id category name description xref provided_by synonym 0000233 0000424 0000589 0100001 :http://purl.obolibrary.org/obo/chebi/charge :http://purl.obolibrary.org/obo/chebi/formula :http://purl.obolibrary.org/obo/chebi/inchi :http://purl.obolibrary.org/obo/chebi/inchikey :http://purl.obolibrary.org/obo/chebi/mass :http://purl.obolibrary.org/obo/chebi/monoisotopicmass :http://purl.obolibrary.org/obo/chebi/smiles :http://purl.org/spar/cito/citesAsAuthority BFO_CLIF_specification_label BFO_OWL_specification_label Date alternative_term author cl#created_by close_match comment consider contributor created_by creation_date creator curator_note default_namespace definition_source depicted_by deprecated editor_note editor_preferred_term elucidation example_of_usage has_alternative_id has_associated_axiom(fol) has_associated_axiom(nl) has_o_b_o_namespace hsapdv#end_dpf hsapdv#end_mpb hsapdv#end_ypb hsapdv#start_dpf hsapdv#start_mpb hsapdv#start_ypb is_a_defining_property_chain_axiom is_cyclic is_metadata_tag is_transitive knowledge_source license logical_definition_view_relation logical_interpretation note object predicate present_in_taxon relation rights see_also shorthand source subject term_editor type u_b_p_r_o_p_0000001 u_b_p_r_o_p_0000002 u_b_p_r_o_p_0000003 u_b_p_r_o_p_0000004 u_b_p_r_o_p_0000005 u_b_p_r_o_p_0000006 u_b_p_r_o_p_0000007 u_b_p_r_o_p_0000008 u_b_p_r_o_p_0000009 u_b_p_r_o_p_0000010 u_b_p_r_o_p_0000011 u_b_p_r_o_p_0000012 u_b_p_r_o_p_0000013 u_b_p_r_o_p_0000014 u_b_p_r_o_p_0000015 u_b_p_r_o_p_0000103 u_b_p_r_o_p_0000104 u_b_p_r_o_p_0000105 u_b_p_r_o_p_0000106 u_b_p_r_o_p_0000107 u_b_p_r_o_p_0000111 HP:0012673 biolink:NamedThing Aplasia of the upper vagina A failure to develop of the upper vagina. tmpxe7fu0cj_hp_relaxed.owl Absent upper vagina UMLS:C4022788 The female reproductive tract primarily develops from the Mullerian ducts (MD), which form as an invagination of the coelomic epithelium and further develop into the upper two-thirds of the vagina, the uterus and the Fallopian tubes. Complete aplasia of the uterus, cervix, and upper vagina is termed Mullerian aplasia. This term refers to the aplasia of the upper roughly two thirds of the vagina that is characteristic of Mullerian aplasia. peter 2014-02-27T11:00:26Z human_phenotype owl:Class HP:0003250 biolink:NamedThing Aplasia of the vagina Aplasia of the vagina. tmpxe7fu0cj_hp_relaxed.owl Congenital absence of the vagina|Absent vagina SNOMEDCT_US:87380008|UMLS:C1841990|UMLS:C1321884|UMLS:C0220763|SNOMEDCT_US:248871003|MSH:C536523 HP:0008709 human_phenotype owl:Class GO:0050957 biolink:NamedThing equilibrioception tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0007600 biolink:NamedThing sensory perception The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Perception biological_process owl:Class CHEBI:33296 biolink:NamedThing alkali metal molecular entity A molecular entity containing one or more atoms of an alkali metal. tmpxe7fu0cj_hp_relaxed.owl alkali metal molecular entities chebi_ontology owl:Class CHEBI:33674 biolink:NamedThing s-block molecular entity An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element. tmpxe7fu0cj_hp_relaxed.owl s-block compounds|s-block molecular entity|s-block molecular entities chebi_ontology owl:Class UBERON:0004684 biolink:NamedThing raphe nuclei The raphe nuclei are thin plates of cells in and immediately adjacent to the sagittal plane. tmpxe7fu0cj_hp_relaxed.owl nuclei raphes|raphe of mesenchephalon|raphe nuclei|set of raphe nuclei|raphe nucleus|raphe cluster|raphe nuclei set TAO:0001429|Wikipedia:Raphe_nuclei|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2495|MA:0003147|UMLS:C0034671|ZFA:0001429|NCIT:C97335|FMA:84017|EMAPA:35721|MESH:A08.186.211.132.659.632|BAMS:RA|NLXANAT:20090205 we treat NR obscurus, NR magnus etc as parts of the raphe nuclei. This is consistent with treatment in FMA, where the class is 'set of raphe nuclei' http://upload.wikimedia.org/wikipedia/commons/9/94/Gray694.png uberon owl:Class UBERON:0002616 biolink:NamedThing regional part of brain Anatomical divisons of the brain according to one or more criteria, e.g. cytoarchitectural, gross anatomy. Parts may be contiguous in 3D or not, e.g., basal ganglia. tmpxe7fu0cj_hp_relaxed.owl segment of brain|anatomical structure of brain|brain anatomical structure|biological structure of brain|neuraxis segment|neuroanatomical region|brain part|brain biological structure SCTID:384763002|BIRNLEX:1167|NCIT:C13031|UMLS:C0445620|FMA:55676 uberon owl:Class GO:0045666 biolink:NamedThing positive regulation of neuron differentiation Any process that activates or increases the frequency, rate or extent of neuron differentiation. tmpxe7fu0cj_hp_relaxed.owl activation of neuron differentiation|upregulation of neuron differentiation|up-regulation of neuron differentiation|up regulation of neuron differentiation|stimulation of neuron differentiation biological_process owl:Class GO:0045597 biolink:NamedThing positive regulation of cell differentiation Any process that activates or increases the frequency, rate or extent of cell differentiation. tmpxe7fu0cj_hp_relaxed.owl activation of cell differentiation|up-regulation of cell differentiation|stimulation of cell differentiation|up regulation of cell differentiation|upregulation of cell differentiation biological_process owl:Class UBERON:0009536 biolink:NamedThing vascular element of left lung A vascular plexus that is part of a left lung. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000963|EMAPA:17660 uberon owl:Class UBERON:0000102 biolink:NamedThing lung vasculature The lung vasculature is composed of the tubule structures that carry blood or lymph in the lungs[GO]. tmpxe7fu0cj_hp_relaxed.owl pulmonary vasculature|vasculature of lung|vascular network of lung|lung vascular network FMA:73750 uberon owl:Class HP:0011704 biolink:NamedThing Sick sinus syndrome An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress. tmpxe7fu0cj_hp_relaxed.owl Sinoatrial node disease MSH:D012804|UMLS:C0037052|SNOMEDCT_US:36083008 peter 2012-04-10T11:31:17Z human_phenotype owl:Class HP:0011702 biolink:NamedThing Abnormal electrophysiology of sinoatrial node origin An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023222|Fyler:7010 peter 2012-04-10T11:22:43Z human_phenotype owl:Class GO:2000270 biolink:NamedThing negative regulation of fibroblast apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of fibroblast apoptotic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of fibroblast apoptosis jl 2010-11-23T01:07:27Z biological_process owl:Class GO:2000269 biolink:NamedThing regulation of fibroblast apoptotic process Any process that modulates the frequency, rate or extent of fibroblast apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of fibroblast apoptosis jl 2010-11-23T01:07:23Z biological_process owl:Class UBERON:0000976 biolink:NamedThing humerus Paired endochondral long bone that extends between the pectoral girdle and the skeletal parts of the forelimb. [PHENOSCAPE:mah]. tmpxe7fu0cj_hp_relaxed.owl mesomere 1 of pectoral appendage|humeri|proximal metapterygial mesomere of pectoral fin|proximal metapterygial mesomere of pectoral appendage|humerus bone EMAPA:19106|GAID:183|AAO:0000679|MA:0001356|UMLS:C0020164|FMA:13303|NCIT:C12731|VHOG:0001158|galen:Humerus|EFO:0001398|MESH:A02.835.232.087.412|XAO:0003210|CALOHA:TS-2202 http://upload.wikimedia.org/wikipedia/commons/6/67/Illu_upper_extremity.jpg uberon owl:Class Paired, elongate, cylindrical bones of endochondral origin that extend from the pectoral girdle to the elbows.[AAO] Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] humeral UBERON:0002495 biolink:NamedThing long bone A long bone is a bone that has a shaft and 2 ends and is longer than it is wide. Long bones have a thick outside layer of compact bone and an inner medullary cavity containing bone marrow. The ends of a long bone contain spongy bone and an epiphyseal plate or line depending on the stage of development. The epiphyseal plate is a hyaline cartilage, where new bone growth takes place, lengthening the bone prior to adulthood. Bone lengthening ceases when this cartilage is lost, leaving a remnant referred to as an epiphyseal line. tmpxe7fu0cj_hp_relaxed.owl os longum UMLS:C0222647|EMAPA:35503|OpenCyc:Mx4rv6axr5wpEbGdrcN5Y29ycA|NCIT:C33003|BTO:0004256|galen:LongBone|FMA:7474|MA:0002802 Endochondral_ossification is an essential process during the rudimentary formation of long bones, with the exception of the clavicle[Wikipedia:Endochondral_ossification]. The medial and and lateral ends undergo EO, the mid-portion is formed by a process with features of EO & IO (the process is shared by the mandible)[ISBN:9780397517251] uberon owl:Class GO:0010716 biolink:NamedThing negative regulation of extracellular matrix disassembly Any process that decreases the rate, frequency or extent of extracellular matrix disassembly. Extracellular matrix disassembly is a process that results in the breakdown of the extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl down regulation of extracellular matrix disassembly|downregulation of extracellular matrix disassembly|negative regulation of extracellular matrix degradation|negative regulation of extracellular matrix breakdown|inhibition of extracellular matrix disassembly|down-regulation of extracellular matrix disassembly biological_process owl:Class GO:0010715 biolink:NamedThing regulation of extracellular matrix disassembly Any process that modulates the rate, frequency or extent of extracellular matrix disassembly. Extracellular matrix disassembly is a process that results in the breakdown of the extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl regulation of extracellular matrix breakdown|regulation of extracellular matrix degradation biological_process owl:Class UBERON:0003327 biolink:NamedThing mesenchyme of forearm Mesenchyme that is part of a developing lower arm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:17419|EHDAA2:0000555|EHDAA:4176|EHDAA:6222|VHOG:0000504 uberon owl:Class UBERON:0003104 biolink:NamedThing mesenchyme Portion of tissue composed of mesenchymal cells (motile cells that develop from epthelia via an epithelial to mesenchymal transition) and surrounding extracellular material. Mesenchyme has different embryological origins in different metazoan taxa - in many invertebrates it derives in whole or part from ectoderm. In vertebrates it derives largely from mesoderm, and sometimes the terms are used interchangeably, e.g. lateral plate mesoderm/mesenchyme. tmpxe7fu0cj_hp_relaxed.owl mesenchyme tissue|portion of mesenchymal tissue|mesenchyma|mesenchymal tissue|portion of mesenchyme tissue AAO:0010427|BTO:0001393|CALOHA:TS-0620|NCIT:C13301|TAO:0000393|Wikipedia:Mesenchyme|EHDAA2:0003145|XAO:0003046|VHOG:0000170|UMLS:C0162415|AEO:0000145|EV:0100007|ZFA:0000393 http://upload.wikimedia.org/wikipedia/commons/f/f4/Mesenchymal_Stem_Cell.jpg the relationship to mesoderm is weaker than develops_from in order to have classes such as 'head mesenchyme from mesoderm' make sense uberon owl:Class Portion of tissue consisting of loosely organized undifferentiated mesodermal cells that give rise to such structures as connective tissues, blood, lymphatics, bone, and cartilage.[AAO]|A mesh-like cell arrangement, less compact than an epithelium. Kimmel et al, 1995.[TAO] mesenchymal UBERON:0004781 biolink:NamedThing gall bladder lamina propria A lamina propria that is part of a gallbladder [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl gall bladder lamina propria mucosa|lamina propria of gall bladder|biliary lamina propria|gallbladder lamina propria|lamina propria mucosa of gallbladder|gallbladder lamina propria mucosa|lamina propria of gallbladder|lamina propria mucosa of gall bladder EMAPA:35371|MA:0001633|UMLS:C1708175|FMA:278594|NCIT:C49228 uberon owl:Class UBERON:0000030 biolink:NamedThing lamina propria A thin layer of loose connective tissue which lies beneath the epithelium and together with the epithelium constitutes the mucosa[WP]. The lamina propria contains capillaries and a central lacteal (lymph vessel) in the small intestine, as well as lymphoid tissue. Lamina propria also contains glands with the ducts opening on to the mucosal epithelium, that secrete mucus and serous secretions. tmpxe7fu0cj_hp_relaxed.owl tunica propria|lamina propria mucosae|lamina propria mucosa Wikipedia:Lamina_propria|NCIT:C32918|FMA:62517|BTO:0002330|SCTID:298225002|UMLS:C1179187 GI:Organization.svg uberon owl:Class UBERON:0003488 biolink:NamedThing abdominal mammary gland A lactiferous gland that is part of the abdominal region [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lobe of breast of abdomen|lactiferous gland of abdomen|lobe of mammary gland of abdomen|abdomen lobe of breast|abdomen lobe of mammary gland|abdomen lactiferous gland|abdomen mammary gland|mammary gland of abdomen EMAPA:36507|MA:0000787 uberon owl:Class Female mice normally have five pairs of nipples and mammary glands, three in the thoracic and two in the abdominal region. (There is an additional abdominal pair in female rats.) http://www.informatics.jax.org/greenbook/chapters/chapter13.shtml UBERON:0001911 biolink:NamedThing mammary gland A specialized accessory gland of the skin of mammals that secretes milk. The gland is typically only developed in females, and regresses in males. tmpxe7fu0cj_hp_relaxed.owl mamma|Brustdruese|lobe of breast|dug|lobe of mammary gland|lactiferous gland|glandula mammaria|milk patch|mammae MAT:0000073|FMA:286452|EFO:0000854|NCIT:C12367|CALOHA:TS-0595|EMAPA:17759|UMLS:C0929301|EV:0100125|BTO:0000817|MA:0000145|MESH:D008321|OpenCyc:Mx4rvVjVq5wpEbGdrcN5Y29ycA|MIAA:0000073|VHOG:0000398 http://upload.wikimedia.org/wikipedia/commons/6/64/Illu_breast_anatomy.jpg Originally this was classified as a female reproductive structure, as it was in the MP in 2011 uberon owl:Class Any of the milk-producing apocrine glands typically occurring in pairs in female mammals and consisting of lobes containing clusters of alveoli with a system of ducts to convey the milk to an external nipple or teat. [TFD][VHOG] The detailed similarities of mammary glands in living monotremes, marsupials, and eutherians argue for a monophyletic origin of these glands, perhaps by the combination of parts of preexisting sebaceous and sweat glands.[well established][VHOG] mammary The male Dayak fruit bat has lactating mammary glands|A mouse mammary gland contains a single duct or sinus, forming 5-10 secondary ducts|The mammary glands of humans are in the thoracid/breast region. In other mammals they may be located elsewhere on the mammary ridges. The BTO class represents the combination of nipple plus lobe|The MA class represents a composite structure, including the nipple, fat, connective tissue, smooth muscle as parts|The FMA class represents an individule lobe. The nipple is not a part UBERON:2001947 biolink:NamedThing hyomandibular-otic region joint Joint that articulates the hyomandibular cartilage or bone and otic region cartilage or sphenotic bone, and often pterotic bone and prootic bone. Hyomandibular-otic region joint is paired. tmpxe7fu0cj_hp_relaxed.owl ZFA:0005544 teleost_anatomy_curators uberon owl:Class This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon UBERON:0000982 biolink:NamedThing skeletal joint Anatomical cluster that consists of two or more adjacent skeletal structures, which may be interconnected by various types of tissue[VSAO]. tmpxe7fu0cj_hp_relaxed.owl joint|articulation|joints|articular joint EFO:0000948|OpenCyc:Mx4rvVjjdpwpEbGdrcN5Y29ycA|XAO:0000171|galen:Joint|VHOG:0001276|MA:0000319|ZFA:0001596|MIAA:0000188|SCTID:302536002|EMAPA:35456|FMA:7490|CALOHA:TS-2023|BTO:0001686|Wikipedia:Joint|GAID:102|RETIRED_EHDAA2:0003182|AEO:0000182|TAO:0000367|MESH:D007596|NCIT:C13044|VSAO:0000101|UMLS:C0022417|MAT:0000188 uberon owl:Class Anatomical cluster that consists of two or more adjacent bones or cartilages, which may be interconnected by various types of tissue.[VSAO]|Anatomical cluster which consists of two or more adjacent bones or cartilages, which may be interconnected by various types of tissue.[TAO] UBERON:0003469 biolink:NamedThing respiratory system artery An artery that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37569|MA:0001804 uberon owl:Class UBERON:0001637 biolink:NamedThing artery An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]. tmpxe7fu0cj_hp_relaxed.owl arterial tree organ part|arterial system|arterial subtree|arteries|arterial vessel BTO:0000573|MA:0000064|OpenCyc:Mx4rvVjknZwpEbGdrcN5Y29ycA|EHDAA2:0000143|NCIT:C12372|MIAA:0000034|MESH:D001158|VHOG:0001251|UMLS:C0003842|ZFA:0000005|EFO:0000814|Wikipedia:Artery|FMA:50720|galen:Artery|SCTID:362877004|EMAPA:35147|AEO:0000208|TAO:0000005|EHDAA2:0003253|MAT:0000034|CALOHA:TS-0054|AAO:0010211|EV:0100026|XAO:0000114|GAID:468 Note that in FMA an artery is a tree, whereas AEO/JB defines it as a tube; FMA includes a separate class for what it calls the trunk. Classification in this ontology may currently (Jan 2012) represent a mix of both schemes, although we are gradually revising in the direction of the AEO scheme. uberon owl:Class Part of the circulatory system composed of blood vessels which carry oxygenated blood away from the heart to the rest of the body.[AAO] The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] arterial HP:0007469 biolink:NamedThing Palmoplantar cutis gyrata Cutis gyrata of palms and soles. tmpxe7fu0cj_hp_relaxed.owl Cutis gyrata of palms and soles UMLS:C1851797 human_phenotype owl:Class HP:0007477 biolink:NamedThing Abnormal dermatoglyphics An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. tmpxe7fu0cj_hp_relaxed.owl Dermatoglyphic abnormalities|Abnormal fingerprints UMLS:C0432333|SNOMEDCT_US:83145004 HP:0007422 human_phenotype owl:Class HP:0009212 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of the middle bone of the pinkie finger|Speckled calcifications in end part of the middle bone of the little finger|Speckled calcifications in end part of the middle bone of the pinky finger UMLS:C4024528 doelkens 2009-01-05T05:22:18Z human_phenotype owl:Class HP:0010266 biolink:NamedThing Stippling of the epiphyses of the middle phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the middle hand bones UMLS:C4023935 doelkens 2009-07-06T04:24:15Z human_phenotype owl:Class GO:1905953 biolink:NamedThing negative regulation of lipid localization Any process that stops, prevents or reduces the frequency, rate or extent of lipid localization. tmpxe7fu0cj_hp_relaxed.owl down regulation of lipid localization|downregulation of lipid localisation|down-regulation of lipid localization|negative regulation of lipid localisation|inhibition of lipid localization|downregulation of lipid localization|inhibition of lipid localisation|down regulation of lipid localisation|down-regulation of lipid localisation rz 2017-02-21T12:12:41Z biological_process owl:Class GO:0048519 biolink:NamedThing negative regulation of biological process Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. tmpxe7fu0cj_hp_relaxed.owl inhibition of biological process|downregulation of biological process|negative regulation of physiological process|down-regulation of biological process|down regulation of biological process GO:0043118 biological_process owl:Class PR:000001833 biolink:NamedThing SLAM family member 1 A protein that is a translation product of the human SLAMF1 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl SLAM|CDw150|IPO-3|SLAMF1|CD150 PANTHER:PTHR12080:SF1 Category=gene. Requested by=CL. protein owl:Class PR:000000001 biolink:NamedThing protein An amino acid chain that is produced de novo by ribosome-mediated translation of a genetically-encoded mRNA, and any derivatives thereof. tmpxe7fu0cj_hp_relaxed.owl natural protein|native protein The definition above excludes protein complexes, which some also consider a protein. Those who wish to refer to a class representing both senses of the word are directed to CHEBI:36080. Note that the definition allows for experimentally-manipulated genes, and allows for artifically-produced derivatives that mimic those found naturally. Proteins (in the sense defined here) that descended from a common ancestor can be classified into families and superfamilies composed of products of evolutionarily-related genes. The domain architecture of a protein is described by the order of its constituent domains. Proteins with the same domains in the same order are defined as homeomorphic [PRO:WCB]. protein owl:Class UBERON:0011741 biolink:NamedThing cardiac valve leaflet tmpxe7fu0cj_hp_relaxed.owl valve leaflet MA:0003179|EMAPA:35903 uberon owl:Class UBERON:0000064 biolink:NamedThing organ part A multicellular structure that is a part of an organ. tmpxe7fu0cj_hp_relaxed.owl cardinal organ part|regional part of organ AAO:0011124|EFO:0000635|FMA:82472|SCTID:91717005|SCTID:113343008|BIRNLEX:16 currently defined in a very broad sense, may be replaced by more specific classes in the future uberon owl:Class UBERON:0010687 biolink:NamedThing pedal digit metatarsal pre-cartilage condensation tmpxe7fu0cj_hp_relaxed.owl metatarsal pre-cartilage condensation|foot digit metatarsal pre-cartilage condensation|metatarsal bone pre-cartilage condensation|hind limb digit metatarsal pre-cartilage condensation|metatarsus pre-cartilage condensation EMAPA:35568|EMAPA:32956|VHOG:0000948 uberon owl:Class UBERON:0005866 biolink:NamedThing pre-cartilage condensation A delimited region of dense mesenchyme within looser mesenchyme whose cells are committed to become chondroblasts. tmpxe7fu0cj_hp_relaxed.owl prechondrogenic condensation|pre-chondrogenic condensation|precartilage condensation|precartilagenous condensation EHDAA2:0003150|EMAPA:32736|AEO:0000150 uberon owl:Class A closely packed aggregation of mesenchymal cells just prior to their differentiation into embryonic cartilage. CHEBI:62488 biolink:NamedThing signalling molecule A molecular messenger in which the molecule is specifically involved in transmitting information between cells. Such molecules are released from the cell sending the signal, cross over the gap between cells by diffusion, and interact with specific receptors in another cell, triggering a response in that cell by activating a series of enzyme controlled reactions which lead to changes inside the cell. tmpxe7fu0cj_hp_relaxed.owl signal molecules|signal molecule|signaling molecule|signalling molecules|signaling molecules chebi_ontology owl:Class CHEBI:33280 biolink:NamedThing molecular messenger tmpxe7fu0cj_hp_relaxed.owl chemical messenger chebi_ontology owl:Class UBERON:8410015 biolink:NamedThing arteriole of colon An arteriole located in the colon. tmpxe7fu0cj_hp_relaxed.owl http://orcid.org/0000-0002-2825-0621 uberon owl:Class UBERON:0001980 biolink:NamedThing arteriole The smallest division of the artery located between the muscular arteries and the capillaries[GO]. tmpxe7fu0cj_hp_relaxed.owl arteriola MESH:D001160|SCTID:337724002|FMA:63182|VHOG:0001763|UMLS:C0003847|EMAPA:35146|MA:0000063|AAO:0010253|TAO:0002138|Wikipedia:Arteriole|BTO:0001997|NCIT:C12672|ZFA:0005255 Illu:capillary.jpg uberon owl:Class Small, terminal branch of an artery which generally connects to capillaries.[AAO]|Multi-tissue structure part of the blood vasculature, feeds into capillaries. Arterioles carry blood away from the heart.[TAO] HP:0032748 biolink:NamedThing Focal impaired awareness emotional seizure with anger Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032736 biolink:NamedThing Focal emotional seizure with anger Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour. tmpxe7fu0cj_hp_relaxed.owl This seizure type localizes to prefrontal or mesial temporal regions of the brain. peter owl:Class UBERON:0006204 biolink:NamedThing inguinal ligament A band running from the pubic tubercle to the anterior superior iliac spine. Its anatomy is very important for operating on hernia patients. It forms the base of the inguinal canal through which an indirect inguinal hernia may develop. The inguinal ligament runs from the anterior superior iliac spine of the ilium to the pubic tubercle of the pubic bone. It is formed by the external abdominal oblique aponeurosis and is continuous with the fascia lata of the thigh. tmpxe7fu0cj_hp_relaxed.owl Poupart's ligament|fallopian ligament|Vesalius' ligament FMA:19855 uberon owl:Class OBO:CARO_0000000 biolink:NamedThing anatomical entity tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0007255 biolink:NamedThing intervertebral disk of lumbar vertebra An intervertebral disk that is part of a lumbar region of vertebral column. A lumbar intervertebral disk connects at least one lumbar vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a sacral vertebra. tmpxe7fu0cj_hp_relaxed.owl intervertebral disc of lumbar region FMA:13894|EMAPA:19468 uberon owl:Class UBERON:0005173 biolink:NamedThing abdominal segment element An organ or element that is part of the adbominal segment of the organism. This region can be further subdivided into the abdominal cavity and the pelvic region. tmpxe7fu0cj_hp_relaxed.owl abdominal segment organ EMAPA:37062|MA:0000529 uberon owl:Class HP:0001645 biolink:NamedThing Sudden cardiac death The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). tmpxe7fu0cj_hp_relaxed.owl Sudden cardiac death|Premature sudden cardiac death SNOMEDCT_US:95281009|UMLS:C0085298|MSH:D016757 HP:0005161 human_phenotype owl:Class HP:0001699 biolink:NamedThing Sudden death Rapid and unexpected death. tmpxe7fu0cj_hp_relaxed.owl MSH:D003645|UMLS:C0011071|SNOMEDCT_US:26636000 owl:Class HP:0001412 biolink:NamedThing Enteroviral hepatitis Inflammation of the liver due to infection with enterovirus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843995 human_phenotype owl:Class HP:0006562 biolink:NamedThing Viral hepatitis Inflammation of the liver due to infection with a virus. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:3738000|UMLS:C0042721 human_phenotype owl:Class UBERON:0003477 biolink:NamedThing vein of upper lip The inferior labial vein is the vein receiving blood from the upper lip. tmpxe7fu0cj_hp_relaxed.owl superior labial vein|vena labialis superior|upper lip vein MA:0002255|EMAPA:37204|FMA:52538 uberon owl:Class UBERON:0013136 biolink:NamedThing vein of lip A vein that drains a lip. tmpxe7fu0cj_hp_relaxed.owl lip vein|labial vein of face|labial vein|vena labialis SCTID:367664002 uberon owl:Class GO:0008284 biolink:NamedThing positive regulation of cell population proliferation Any process that activates or increases the rate or extent of cell proliferation. tmpxe7fu0cj_hp_relaxed.owl stimulation of cell proliferation|up-regulation of cell proliferation|positive regulation of cell proliferation|upregulation of cell proliferation|up regulation of cell proliferation|activation of cell proliferation biological_process owl:Class GO:0042127 biolink:NamedThing regulation of cell population proliferation Any process that modulates the frequency, rate or extent of cell proliferation. tmpxe7fu0cj_hp_relaxed.owl regulation of cell proliferation biological_process owl:Class GO:0033673 biolink:NamedThing negative regulation of kinase activity Any process that stops, prevents, or reduces the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpxe7fu0cj_hp_relaxed.owl down regulation of kinase activity|down-regulation of kinase activity|inhibition of kinase activity|downregulation of kinase activity|kinase inhibitor biological_process owl:Class GO:0051348 biolink:NamedThing negative regulation of transferase activity Any process that stops or reduces the rate of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. tmpxe7fu0cj_hp_relaxed.owl down-regulation of transferase activity|downregulation of transferase activity|inhibition of transferase activity|transferase inhibitor|down regulation of transferase activity This term is useful for grouping, but is too general for manual annotation. Please use a child term instead. biological_process owl:Class GO:0048858 biolink:NamedThing cell projection morphogenesis The process in which the anatomical structures of a cell projection are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0009653 biolink:NamedThing anatomical structure morphogenesis The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. tmpxe7fu0cj_hp_relaxed.owl anatomical structure organization|embryogenesis and morphogenesis|morphogenesis Wikipedia:Morphogenesis biological_process owl:Class HP:0025610 biolink:NamedThing Posterior blepharitis A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia. tmpxe7fu0cj_hp_relaxed.owl Meibomian gland disease|Meibomian gland dysfunction 2018-01-13 22:53:43+00:00 HPO:probinson owl:Class HP:0000498 biolink:NamedThing Blepharitis Inflammation of the eyelids. tmpxe7fu0cj_hp_relaxed.owl Cellulitis of eyelids|Inflammation of eyelids SNOMEDCT_US:231796003|UMLS:C0339063|SNOMEDCT_US:41446000|UMLS:C0005741|MSH:D001762 human_phenotype owl:Class PR:P27352 biolink:NamedThing cobalamin binding intrinsic factor (human) A cobalamin binding intrinsic factor that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl IF (human)|IFMH|CBLIF|GIF|gastric intrinsic factor (human)|hCBLIF|intrinsic factor (human)|INF (human) UniProtKB:P27352 Category=organism-gene. protein owl:Class PR:000007975 biolink:NamedThing cobalamin binding intrinsic factor A protein that is a translation product of the human CBLIF gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl IF|INF|GIF|gastric intrinsic factor|intrinsic factor|IFMH|CBLIF Category=gene. protein owl:Class GO:1901608 biolink:NamedThing regulation of vesicle transport along microtubule Any process that modulates the frequency, rate or extent of vesicle transport along microtubule. tmpxe7fu0cj_hp_relaxed.owl regulation of microtubule-based vesicle localization hjd 2012-11-08T21:49:44Z biological_process owl:Class GO:0065007 biolink:NamedThing biological regulation Any process that modulates a measurable attribute of any biological process, quality or function. tmpxe7fu0cj_hp_relaxed.owl regulation biological_process owl:Class CHEBI:33663 biolink:NamedThing cyclic hydrocarbon tmpxe7fu0cj_hp_relaxed.owl cyclic hydrocarbon|cyclic hydrocarbons chebi_ontology owl:Class CHEBI:24632 biolink:NamedThing hydrocarbon A compound consisting of carbon and hydrogen only. tmpxe7fu0cj_hp_relaxed.owl hydrocarbure|hidrocarburos|Kohlenwasserstoffe|hidrocarburo|hydrocarbons|hydrocarbon|Kohlenwasserstoff chebi_ontology owl:Class HP:0001332 biolink:NamedThing Dystonia An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. tmpxe7fu0cj_hp_relaxed.owl Dystonic disease|Dystonic movements UMLS:C4020871|MSH:D004421|UMLS:C0013421 HP:0002328 human_phenotype owl:Class HP:0100022 biolink:NamedThing Abnormality of movement An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. tmpxe7fu0cj_hp_relaxed.owl Movement disorder|Abnormality of movement|Unusual movement SNOMEDCT_US:60342002|UMLS:C0026650|MSH:D009069 Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy. doelkens 2010-05-28T11:48:50Z HP:0001294 owl:Class UBERON:0004108 biolink:NamedThing clivus of occipital bone Part of the cranium, the clivus is a shallow depression behind the dorsum sellC& that slopes obliquely backward. It forms a gradual sloping process at the anterior most portion of the basilar occipital bone at its junction with the sphenoid bone. On axial planes, it sits just posterior to the sphenoid sinuses. Just lateral to the clivus bilaterally is the foramen lacerum which contains the internal carotid artery, proximal to its anastamosis with the Circle of Willis. Posterior to the clivus is the basilar artery. The clivus supports the upper part of the pons. tmpxe7fu0cj_hp_relaxed.owl occipital bone clivus|clivus ossis occipitalis|clivus|Wackenheim's clivus line NCIT:C12494|UMLS:C0222724|FMA:75747 The clivus is an important landmark for checking for anatomical atlanto-occipital alignment; the clivus, when viewed on a lateral C-spine X-ray, forms a line which, if extended, is known as Wackenheim's clivus line. Wackenheim's clivus line should pass through the dens of the axis or be tangential to it. http://upload.wikimedia.org/wikipedia/commons/c/c5/Clivus.png check relationships. uberon owl:Class UBERON:0005913 biolink:NamedThing zone of bone organ tmpxe7fu0cj_hp_relaxed.owl bone organ zone FMA:10483 uberon owl:Class HP:0009153 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 5th finger Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. tmpxe7fu0cj_hp_relaxed.owl Abnormality of end part of the innermost bone of pinkie finger|Abnormality of end part of the innermost bone of little finger|Abnormality of end part of the innermost bone of pinky finger UMLS:C4024568 peter 2008-12-22T05:47:42Z human_phenotype owl:Class HP:0009150 biolink:NamedThing Abnormality of the proximal phalanx of the 5th finger Abnormality of the proximal phalanx of the little (5th) finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the innermost bone pinky finger|Abnormality of the innermost bone little finger|Abnormality of the innermost bone pinkie finger UMLS:C4024570 peter 2008-12-22T02:00:20Z human_phenotype owl:Class GO:1901963 biolink:NamedThing regulation of cell proliferation involved in outflow tract morphogenesis Any process that modulates the frequency, rate or extent of cell proliferation involved in outflow tract morphogenesis. tmpxe7fu0cj_hp_relaxed.owl dph 2013-02-20T20:30:26Z biological_process owl:Class GO:2000136 biolink:NamedThing regulation of cell proliferation involved in heart morphogenesis Any process that modulates the frequency, rate or extent of cell proliferation involved in heart morphogenesis. tmpxe7fu0cj_hp_relaxed.owl dph 2010-09-29T12:43:53Z biological_process owl:Class GO:0060349 biolink:NamedThing bone morphogenesis The process in which bones are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0009887 biolink:NamedThing animal organ morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. tmpxe7fu0cj_hp_relaxed.owl histogenesis and organogenesis biological_process owl:Class HP:0011451 biolink:NamedThing Primary microcephaly Head circumference below 2 standard deviations below the mean for age and gender at birth. tmpxe7fu0cj_hp_relaxed.owl Congenital small head circumference|Congenital microcephaly|Congenital small head|Head circumference small for gestational age|Small cranium present at birth|Congenital decreased head circumference|Decreased head circumference present at birth|Congenital small skull|Microcephaly present at birth|Small head present at birth|Small skull present at birth|Small head circumference present at birth UMLS:C2677180|UMLS:C4020749 peter 2012-03-18T06:50:36Z owl:Class HP:0000252 biolink:NamedThing Microcephaly Head circumference below 2 standard deviations below the mean for age and gender. tmpxe7fu0cj_hp_relaxed.owl small calvarium|Decreased size of head|Decreased size of cranium|Small head|Reduced head circumference|small cranium|Small skull|Abnormally small skull|Small head circumference|Decreased size of skull|Decreased circumference of cranium|Abnormally small cranium|Abnormally small head UMLS:C4551563|Fyler:4310|SNOMEDCT_US:271611007 Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition HP:0005497|HP:0005489|HP:0001366|HP:0005485 owl:Class HP:3000019 biolink:NamedThing Abnormality of buccal mucosa An abnormality of a buccal mucosa. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cheek mucosa|Abnormality of inside lining of cheek UMLS:C4073228 vasilevs 2015-08-07T00:13:17Z human_phenotype owl:Class HP:0004426 biolink:NamedThing Abnormality of the cheek An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface tmpxe7fu0cj_hp_relaxed.owl Anomaly of the cheeks|Abnormality of the cheeks|Malformation of the cheeks|Abnormality of the cheek|Deformity of the cheeks UMLS:C4025324 peter 2008-03-18T09:42:00Z human_phenotype owl:Class GO:0007165 biolink:NamedThing signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. tmpxe7fu0cj_hp_relaxed.owl signaling pathway|signal transduction by trans-phosphorylation|signalling pathway|signal transduction by cis-phosphorylation|signalling cascade|signaling cascade|signal transduction by conformational transition|signal transduction by protein phosphorylation Wikipedia:Signal_transduction Note that signal transduction is defined broadly to include a ligand interacting with a receptor, downstream signaling steps and a response being triggered. A change in form of the signal in every step is not necessary. Note that in many cases the end of this process is regulation of the initiation of transcription. Note that specific transcription factors may be annotated to this term, but core/general transcription machinery such as RNA polymerase should not. GO:0023045|GO:0023033|GO:0023014|GO:0023015|GO:0023016 biological_process owl:Class GO:0050794 biolink:NamedThing regulation of cellular process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpxe7fu0cj_hp_relaxed.owl regulation of cellular physiological process GO:0051244 biological_process owl:Class UBERON:0001808 biolink:NamedThing parasympathetic ganglion Ganglion containing neurons that receive innervation from parasympathetic neurons in the central nervous system and subserves parasympathetic functions through innervation of smooth muscle, cardiac muscle and glands. tmpxe7fu0cj_hp_relaxed.owl ganglion parasympathicum MA:0002469|EMAPA:32813|NCIT:C52557|SCTID:279284004|Wikipedia:Parasympathetic_ganglion|BTO:0001256|EHDAA2:0001400|NLXANAT:100303|FMA:5894|UMLS:C0017069 http://upload.wikimedia.org/wikipedia/commons/f/f7/Gray839.png uberon owl:Class UBERON:0010313 biolink:NamedThing neural crest-derived structure An anatomical structure that develops from the neural crest. tmpxe7fu0cj_hp_relaxed.owl Grouping term for query purposes uberon owl:Class HP:0007716 biolink:NamedThing Uveal melanoma A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid). tmpxe7fu0cj_hp_relaxed.owl Intraocular melanoma NCIT:C3224|MSH:C536494|UMLS:C0220633 WIth intraocular melanoma, the melanoma originates from melanocytic cells in the uveal layer, comprising the iris, ciliary body, and choroid. human_phenotype owl:Class HP:0002861 biolink:NamedThing Melanoma The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). tmpxe7fu0cj_hp_relaxed.owl Malignant melanoma|Skin cancer (melanoma)|Cancer of skin pigment cells SNOMEDCT_US:372244006|MSH:D008545|NCIT:C3224|UMLS:C0025202|SNOMEDCT_US:2092003 A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis. HP:0007474|HP:0006777|HP:0002887 human_phenotype owl:Class CL:0000408 biolink:NamedThing male gamete tmpxe7fu0cj_hp_relaxed.owl BTO:0001277|CALOHA:TS-0949 cell owl:Class CL:0000015 biolink:NamedThing male germ cell Male germ cell is a germ cell that supports male gamete production. tmpxe7fu0cj_hp_relaxed.owl FMA:72290|MA:0002765|VHOG:0001531|ncithesaurus:Spermatogenic_Cell cell owl:Class HP:0003993 biolink:NamedThing Broad ulna Increased width of the ulna. tmpxe7fu0cj_hp_relaxed.owl Wide ulna UMLS:C4025460|UMLS:C4020692 HP:0200081 human_phenotype owl:Class HP:0040071 biolink:NamedThing Abnormal morphology of ulna tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022453 HPO:skoehler owl:Class GO:0035441 biolink:NamedThing cell migration involved in vasculogenesis The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form de novo blood vessels and tubes. tmpxe7fu0cj_hp_relaxed.owl bf 2010-04-09T03:53:01Z biological_process owl:Class GO:0016477 biolink:NamedThing cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Cell_migration biological_process owl:Class UBERON:0004314 biolink:NamedThing distal phalanx of manual digit 5 A distal phalanx that is part of a hand digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl distal phalanx of fifth finger|distal phalanx of 5th finger|distal phalanx of 5th digit of hand|distal phalanx of little finger|5th digit of hand distal phalanx|distal phalanx of manual digit V|fifth distal phalanx of hand|hand digit 5 distal phalanx|distal phalanx of fifth digit of hand|5th finger distal phalanx|fifth finger distal phalanx FMA:23949 uberon owl:Class UBERON:0014487 biolink:NamedThing distal phalanx of digit 5 A distal phalanx that is part of a digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl distal phalanx of fifth digit|fifth distal phalanx|distal phalanx of little digit|digit V P3|5th digit distal phalanx|distal phalanx of digit V|fifth digit distal phalanx|distal phalanx of 5th digit|digit 5 distal phalanx uberon owl:Class HP:0000911 biolink:NamedThing Flat glenoid fossa Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855177 See PMID:15163819, figure 2, for the arthrographic appearance of a flat glenoid fossa. human_phenotype owl:Class HP:0011912 biolink:NamedThing Abnormality of the glenoid fossa An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023131 peter 2012-06-05T08:51:23Z human_phenotype owl:Class HP:0003832 biolink:NamedThing Abnormality of the tibial plateaux tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025564 human_phenotype owl:Class HP:0002992 biolink:NamedThing Abnormality of tibia morphology Abnormality of the tibia (shinbone). tmpxe7fu0cj_hp_relaxed.owl Abnormality of the shinbone|Abnormality of the shankbone UMLS:C4025663 human_phenotype owl:Class UBERON:0005646 biolink:NamedThing manual digit 3 epithelium An epithelium that is part of a manual digit 3. tmpxe7fu0cj_hp_relaxed.owl hand digit 3 epithelium|fore limb digit 3 epithelium|manual digit III epithelium EMAPA:17436|EHDAA2:0000524 uberon owl:Class UBERON:0000483 biolink:NamedThing epithelium Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. tmpxe7fu0cj_hp_relaxed.owl portion of epithelium|epithelial tissue CARO:0000066|CALOHA:TS-0288|SCTID:31610004|EMAPA:32738|FMA:9639|VHOG:0000387|XAO:0003045|MA:0003060|AAO:0000144|EHDAA2:0003066|NCIT:C12710|BILA:0000066|HAO:0000066|UMLS:C0014609|ZFA:0001486|AAO:0010055|BTO:0000416|TAO:0001486|AEO:0000066|FBbt:00007005|MESH:D004848|Wikipedia:Epithelium|GAID:402 Editor note: surface epithelium may contain non-epithelial cells, such as melanocytes, lymphocytes and dendritic cells, within the sheet of epithelial cells. Do we consider these part of the epithelium, or located-in it? Tkanka:nablonkowa.png uberon owl:Class The two basic types of metazoan tissue are epithelial and connective. The simplest metazoans, and developmental stages of many primitive invertebrates, consist solely of these two layers. Thus, epithelial and connective tissues may be the primary (original) tissues of metazoans, and both are important in the functional organization of animals.[well established][VHOG] epithelial HP:0032978 biolink:NamedThing Lipid-laden macrophages in bronchoalveolar fluid Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032984 biolink:NamedThing Abnormal alveolar macrophage morphology Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0006514 biolink:NamedThing pallidum Part of what are called the basal ganglia of the brain which consist of the globus pallidus and the ventral pallidum. tmpxe7fu0cj_hp_relaxed.owl pallidum of neuraxis|neuraxis pallidum FMA:83684|MBA:803|MA:0000889|EMAPA:32780|BAMS:PAL uberon owl:Class UBERON:0003528 biolink:NamedThing brain gray matter A gray matter that is part of a brain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl gray matter of brain|grey substance of brain|grey matter of brain|brain grey substance|brain grey matter NCIT:C49333|EMAPA:35184|MA:0000810|UMLS:C1707348 uberon owl:Class GO:0032642 biolink:NamedThing regulation of chemokine production Any process that modulates the frequency, rate, or extent of chemokine production. tmpxe7fu0cj_hp_relaxed.owl regulation of chemokine secretion|regulation of chemokine biosynthetic process 2009-12-18T11:28:00Z GO:0090196|GO:0045073 biological_process owl:Class GO:0001817 biolink:NamedThing regulation of cytokine production Any process that modulates the frequency, rate, or extent of production of a cytokine. tmpxe7fu0cj_hp_relaxed.owl regulation of cytokine biosynthetic process|regulation of cytokine synthesis|regulation of cytokine formation|regulation of cytokine biosynthesis|regulation of cytokine anabolism|regulation of cytokine secretion GO:0042035|GO:0050707 biological_process owl:Class HP:0030501 biolink:NamedThing Macular crystals Crystalline deposits in the macula. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072988 owl:Class HP:0030500 biolink:NamedThing Yellow/white lesions of the macula tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072987 owl:Class UBERON:0001532 biolink:NamedThing internal carotid artery A terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes[MP]. tmpxe7fu0cj_hp_relaxed.owl ICA|cranial carotid artery|internal carotid|arteria carotis interna MA:0001930|MESH:D002343|BTO:0004697|XAO:0000366|AAO:0011054|EFO:0001952|FMA:3947|EHDAA:6389|EHDAA:408|GAID:481|VHOG:0000267|TAO:0005081|SCTID:362045001|UMLS:C0007276|Wikipedia:Internal_carotid_artery|ZFA:0005081|EHDAA2:0000873|OpenCyc:Mx4rvYx8KZwpEbGdrcN5Y29ycA|AAO:0010219|EMAPA:16328|NCIT:C32836 http://upload.wikimedia.org/wikipedia/commons/9/9c/Gray513.png uberon owl:Class Each of two arteries starting at the bifurcation of the common carotid arteries through which blood circulates to many structures and organs in the head. [TFD][VHOG]|One of the major arteries of the head, it is the as the cranial continuation of the aortic arches and the dorsal aorta. It curves ventrally before resuming a dorsal course as it enters the head proper, and it lies ventral to the internal jugular vein. The internal carotid artery gives off palatine, ophthalmic, and cerebral branches by stage NF stage 41.[AAO] UBERON:0005396 biolink:NamedThing carotid artery segment One of: the common carotid artery, or its branches, the external and internal carotid arteries. tmpxe7fu0cj_hp_relaxed.owl carotid artery|subdivision of common carotid artery|carotid|common carotid arterial subdivision galen:CarotidArtery|MESH:D002339|BTO:0000168|EMAPA:18609|SCTID:69105007|OpenCyc:Mx4rvg7rcJwpEbGdrcN5Y29ycA|EV:0100379|EHDAA:6385|AAO:0010217|GAID:478|CALOHA:TS-0116|MA:0001925|Wikipedia:Carotid_artery|VHOG:0000266|EFO:0000818|FMA:70504|NCIT:C12687|ZFA:0000097|SCTID:362040006|MAT:0000501|UMLS:C0007272|TAO:0000097 This is a generic grouping class that is the superclass of the trunks/branches of the common carotid artery. Note that AOs vary widely in how they divide up and generalize arteries uberon owl:Class Artery originating at the junction of the first two aortic arches and supplying the anterior brain. Kimmel et al, 1995.[TAO] UBERON:0010075 biolink:NamedThing sacral neural crest One of the 5 distinct and partially overlapping functional domains of the premigratory neural crest. The vagal and sacral neural crest cells develop into the ganglia of the enteric nervous system, also known as the parasympathetic ganglia. tmpxe7fu0cj_hp_relaxed.owl XAO:0004192 uberon owl:Class UBERON:0004121 biolink:NamedThing ectoderm-derived structure An anatomical structure that develops (entirely or partially) from the ectoderm. tmpxe7fu0cj_hp_relaxed.owl ectodermal deriviative FBbt:00025990 Grouping term for query purposes uberon owl:Class UBERON:0003555 biolink:NamedThing spinal cord pia mater A pia mater that is part of a spinal cord [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pia mater of neuraxis of spinal cord|pia mater of spinal cord|spinal cord pia mater of neuraxis VHOG:0000468|NCIT:C49800|EMAPA:17807|MA:0001133|UMLS:C1710148|EHDAA2:0001896 uberon owl:Class The innermost of the three mammalian meninges covering the brain and spinal cord. [TFD][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] UBERON:0002361 biolink:NamedThing pia mater The innermost layer of the leptomeninges, consisting of a delicate membrane closely covering the surface of the brain and spinal cord,and lying under the arachnoid membrane. The pia, unlike the arachnoid, extends into the sulci in gyrencephalic animals. tmpxe7fu0cj_hp_relaxed.owl pial membrane|pia mater of neuraxis|pia EHDAA:2685|EHDAA:2833|EHDAA:1367|EHDAA:2867|BTO:0001635|GAID:693|EHDAA:1961|NCIT:C33321|EHDAA:3710|EHDAA:2099|UMLS:C0031869|EMAPA:32663|EHDAA:3692|EHDAA:2001|EHDAA:6566|OpenCyc:Mx4rvtesBZwpEbGdrcN5Y29ycA|RETIRED_EHDAA2:0001464|MESH:D010841|EV:0100315|NLXANAT:090209|MA:0001116|EHDAA2:0004318|EHDAA:6583|FMA:9590 http://upload.wikimedia.org/wikipedia/commons/3/31/Gray770-en.svg|http://upload.wikimedia.org/wikipedia/commons/6/65/Gray770.png consider adding adjacency relationship to neuraxis (brain+spinal cord); however note that at this time the meninges may be considered part of the nervous system uberon owl:Class delicate innermost layer of the meninges-the membranes surrounding the brain and spinal cord. The thin, mesh-like pia mater closely envelops the entire surface of the brain, running down into the fissures of the cortex. It joins with the ependyma which lines the ventricles to form choroid plexuses that produce cerebrospinal fluid. In the spinal cord, the pia mater attaches to the dura mater by the denticular ligaments through the arachnoid membrane. The pia mater is a neural crest derivative[Wikipedia:Pia_mater]. HP:0000271 biolink:NamedThing Abnormality of the face An abnormality of the face. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the visage|Anomaly of the face|Abnormal face|Disorder of the face|Facial abnormality|Abnormality of the physiognomy|Abnormality of the countenance|Facial anomaly|Anomaly of face|Abnormality of the face|Disorder of face SNOMEDCT_US:118930001|SNOMEDCT_US:398302004|UMLS:C4025871|UMLS:C1290857|SNOMEDCT_US:398206004|UMLS:C0266617|SNOMEDCT_US:32003007 human_phenotype owl:Class HP:0000234 biolink:NamedThing Abnormality of the head An abnormality of the head. tmpxe7fu0cj_hp_relaxed.owl Abnormal head|Head abnormality|Abnormality of the head UMLS:C4021812 human_phenotype owl:Class PATO:0000427 biolink:NamedThing recurrent A quality of a single process inhering in a bearer by virtue of the bearer's occurring or appearing again or repeatedly. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0000057 biolink:NamedThing occurrence A quality of a single process inhering in a bearer by virtue of the bearer's occurrence. tmpxe7fu0cj_hp_relaxed.owl incidence|temporal PATO:0000158|PATO:0000156 quality owl:Class PR:P13379 biolink:NamedThing T-cell surface glycoprotein CD5 (mouse) A T-cell surface glycoprotein CD5 that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl Cd5|CD5 (mouse)|Ly-1|mCD5|Lyt-1 (mouse)|lymphocyte antigen 1 (mouse) UniProtKB:P13379 Category=organism-gene. protein owl:Class PR:000001839 biolink:NamedThing T-cell surface glycoprotein CD5 A protein that is a translation product of the human CD5 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl ly-1|Lyt-1|lymphocyte antigen T1/Leu-1|lymphocyte antigen 1|CD5|LEU1 PANTHER:PTHR19331:SF6 Category=gene. Requested by=CL. protein owl:Class GO:0045936 biolink:NamedThing negative regulation of phosphate metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving phosphates. tmpxe7fu0cj_hp_relaxed.owl downregulation of phosphate metabolic process|down-regulation of phosphate metabolic process|inhibition of phosphate metabolic process|down regulation of phosphate metabolic process|negative regulation of phosphate metabolism biological_process owl:Class GO:0010563 biolink:NamedThing negative regulation of phosphorus metabolic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0005136 biolink:NamedThing metanephric glomerular endothelium The metanephric glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus of the metanephros[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0004189 biolink:NamedThing glomerular endothelium The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus. tmpxe7fu0cj_hp_relaxed.owl endothelium of renal glomerulus|renal glomerulus endothelium BTO:0004631 uberon owl:Class UBERON:0019222 biolink:NamedThing digit 2, 3 or 4 Any of the three medial digits in a five-digit autopod, or their phylogenetic equivalent. tmpxe7fu0cj_hp_relaxed.owl mesoaxial digit|medial digit uberon https://github.com/obophenotype/uberon/issues/592 owl:Class UBERON:0002544 biolink:NamedThing digit A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans). tmpxe7fu0cj_hp_relaxed.owl limb digit|acropodial unit|digit (phalangeal portion) plus soft tissue AAO:0011126|MAT:0000285|EMAPA:32725|FMA:85518|MA:0000690|VHOG:0000944|MIAA:0000285|NCIT:C40186|XAO:0003032|EFO:0000881|OpenCyc:Mx4rvzLD_ZwpEbGdrcN5Y29ycA|galen:Digit|UMLS:C0582802 this class represents the entire organism subdivision encompassing soft tissue as well as the underlying skeletal framework. The class represents the phalangeal part only - historically the term 'digit' has also been used to represent the unit consisting of a series of phalanges together with a metapodial bone. We may in future relabel this class to avoid confusion with this concept, but the class will continue to represent the phalangeal portion uberon owl:Class Our reinterpretation of the distal fin endoskeleton of Panderichthys removes the final piece of evidence supporting the formerly popular hypothesis that tetrapod digits are wholly new structures without homologues in sarcopterygian fish fins. This hypothesis, which was based partly on the complete absence of plausible digit homologues in Panderichthys (then the closest known relative of tetrapods), has already been called into question by the discovery of digit-like radials in Tiktaalik and the fact that Hox gene expression patterns closely resembling those associated with digit formation in tetrapods occur in the distal fin skeletons of paddlefish and Australian lungfish. Our new data show that Panderichthys is not an anomaly: like Tiktaalik and other fish members of the Tetrapodomorpha, it has distal radials that can be interpreted as digit homologues.[well established][VHOG] digital CHEBI:16180 biolink:NamedThing N-acylglycine An N-acyl-amino acid in which amino acid specified is glycine. tmpxe7fu0cj_hp_relaxed.owl N-Acylglycine 0 C3H4NO3R 102.06880 102.01912 OC(=O)CNC([*])=O KEGG:C02055|MetaCyc:CPD-426 CHEBI:21660|CHEBI:7238|CHEBI:12484 chebi_ontology owl:Class CHEBI:51569 biolink:NamedThing N-acyl-amino acid A carboxamide resulting from the formal condensation of a carboxylic acid with the amino group of an amino acid. tmpxe7fu0cj_hp_relaxed.owl acyl-amino-acid|N-acyl amino acid|N-acylamino acids|N-acyl-amino-acid|N-acylamino acid|N-acyl-amino-acids|acylamino acids|N-acyl amino acids|acyl-amino-acids CHEBI:21653|CHEBI:22226 chebi_ontology owl:Class UBERON:0006256 biolink:NamedThing knee joint primordium tmpxe7fu0cj_hp_relaxed.owl EHDAA:8467|EHDAA2:0000897|EMAPA:17740 uberon owl:Class UBERON:0001048 biolink:NamedThing primordium Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt, Hartenstein, V. (2004)]. tmpxe7fu0cj_hp_relaxed.owl future organ|rudiment|primordia|bud|placode MAT:0000482|FBbt:00005495|FMA:86589|BTO:0001886|Wikipedia:Primordium|XAO:0003043|EFO:0001652|NCIT:C34275|AEO:0000171|EHDAA2:0003171|UMLS:C0678727 uberon owl:Class HP:0010960 biolink:NamedThing Bronchopulmonary sequestration The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0006288|SNOMEDCT_US:18620009|MSH:D001998 Typically, the lung tissue in BPS receives all or most of its blood supply from an anomalous systemic artery, with the origin of this artery being variable. peter 2011-01-18T12:28:51Z human_phenotype owl:Class HP:4000059 biolink:NamedThing Abnormal lung development A structural defect associated with abnormal development of the lung. tmpxe7fu0cj_hp_relaxed.owl Developmental pulmonary anomaly 2021-06-09 12:13:11+00:00 robinp owl:Class GO:1902256 biolink:NamedThing regulation of apoptotic process involved in outflow tract morphogenesis Any process that modulates the frequency, rate or extent of apoptotic process involved in outflow tract morphogenesis. tmpxe7fu0cj_hp_relaxed.owl regulation of apoptosis involved in outflow tract morphogenesis dph 2013-06-24T19:12:24Z biological_process owl:Class GO:1902337 biolink:NamedThing regulation of apoptotic process involved in morphogenesis Any process that modulates the frequency, rate or extent of apoptotic process involved in morphogenesis. tmpxe7fu0cj_hp_relaxed.owl regulation of apoptosis involved in development|regulation of morphogenetic apoptosis|regulation of apoptosis involved in morphogenesis sart 2013-07-29T15:03:16Z biological_process owl:Class GO:0045657 biolink:NamedThing positive regulation of monocyte differentiation Any process that activates or increases the frequency, rate or extent of monocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl stimulation of monocyte differentiation|activation of monocyte differentiation|upregulation of monocyte differentiation|up regulation of monocyte differentiation|up-regulation of monocyte differentiation biological_process owl:Class HP:0000602 biolink:NamedThing Ophthalmoplegia Paralysis of one or more extraocular muscles that are responsible for eye movements. tmpxe7fu0cj_hp_relaxed.owl Eye muscle paralysis|Paralysis of extraocular eye movement UMLS:C0029089|SNOMEDCT_US:16110005|MSH:D009886 human_phenotype owl:Class HP:0000597 biolink:NamedThing Ophthalmoparesis Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. tmpxe7fu0cj_hp_relaxed.owl Extraocular muscle paralysis|Weakness of extraocular eye movement|Weakness of muscles controlling eye movement|Extraocular muscle palsy MSH:D009886|UMLS:C0751401 HP:0008044|HP:0007701 owl:Class HP:0001947 biolink:NamedThing Renal tubular acidosis Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. tmpxe7fu0cj_hp_relaxed.owl Accumulation of acid in body due to kidney problem SNOMEDCT_US:1776003|MSH:D000141|UMLS:C0001126 human_phenotype owl:Class HP:0000124 biolink:NamedThing Renal tubular dysfunction Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. tmpxe7fu0cj_hp_relaxed.owl Renal tubular disease|Renal tubular defect|Abnormal function of filtrating structures in kidney SNOMEDCT_US:95568003|UMLS:C0151747 human_phenotype owl:Class HP:0100933 biolink:NamedThing Sclerosis of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the innermost bone of the 4th toe UMLS:C4021925 human_phenotype owl:Class HP:0100946 biolink:NamedThing Sclerosis of proximal toe phalanx An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Sclerosis of the proximal phalanges of the toes|Increased bone density in innermost toe bone UMLS:C4020925 owl:Class PATO:0000892 biolink:NamedThing female sterile A female fertility quality inhering in a female by virtue of the bearer's being incapable of initiating, sustaining, or supporting reproduction. tmpxe7fu0cj_hp_relaxed.owl female infertile quality owl:Class PATO:0000956 biolink:NamedThing sterile A fertility quality inhering in a bearer by virtue of the bearer's being incapable of initiating, sustaining, or supporting reproduction. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0003139 biolink:NamedThing Panhypogammaglobulinemia A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. tmpxe7fu0cj_hp_relaxed.owl Panypogammaglobulinemia UMLS:C1328587 human_phenotype owl:Class HP:0004313 biolink:NamedThing Decreased circulating antibody level An abnormally decreased level of immunoglobulin in blood. tmpxe7fu0cj_hp_relaxed.owl Reduced immunoglobulin levels|Decreased antibody level in blood|Hypogammaglobulinemia|Decreased immunoglobulin level|Decreased serum immunoglobulin|Immunoglobulin deficiency UMLS:C0086438|SNOMEDCT_US:119250001|MSH:D000361|UMLS:C4048270 In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. peter 2008-02-20T03:34:00Z HP:0010703 human_phenotype owl:Class CL:0002293 biolink:NamedThing epithelial cell of thymus An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies. tmpxe7fu0cj_hp_relaxed.owl epithelial reticular cell of thymus|epithelial reticular cell|thymic epithelial cell|epithelial cell of thymus gland FMA:72208|CALOHA:TS-1040 tmeehan 2010-09-13T02:34:22Z CL:1000459 cell owl:Class CL:0002076 biolink:NamedThing endo-epithelial cell An epithelial cell derived from endoderm. tmpxe7fu0cj_hp_relaxed.owl FMA:69075 tmeehan 2010-06-29T03:38:14Z cell owl:Class UBERON:0004348 biolink:NamedThing optic eminence The embryonic structure that gives rise to the corneal ectoderm. tmpxe7fu0cj_hp_relaxed.owl EHDAA:938|VHOG:0001296|RETIRED_EHDAA2:0001308|EMAPA:16322 uberon owl:Class UBERON:0006598 biolink:NamedThing presumptive structure Portion of embryonic tissue determined by fate mapping to become a structure. tmpxe7fu0cj_hp_relaxed.owl future structure|presumptive structures ZFA:0001116|AAO:0000479|TAO:0001116 Consider merging with anlage uberon owl:Class HP:0006723 biolink:NamedThing Intestinal carcinoid tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024988 human_phenotype owl:Class HP:0100570 biolink:NamedThing Carcinoid tumor A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. tmpxe7fu0cj_hp_relaxed.owl Carcinoid tumors|Carcinoid|Carcinoid tumour|Carcinoid tumours SNOMEDCT_US:443492008|SNOMEDCT_US:189607006|UMLS:C0007095|MSH:D002276 doelkens 2010-12-21T04:57:15Z human_phenotype owl:Class HP:0010434 biolink:NamedThing Aplasia of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Absent middle bone of 2nd toe UMLS:C4023828 doelkens 2009-07-16T04:28:48Z human_phenotype owl:Class HP:0100388 biolink:NamedThing Aplasia of the proximal phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Absent innermost toe bones UMLS:C4022106 doelkens 2010-11-11T04:55:30Z human_phenotype owl:Class UBERON:0003331 biolink:NamedThing submucosa of colon A submucosa that is part of a colon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl submucosa of large bowel|colon submucosa|large bowel submucosa|colonic submucosa MA:0003200|FMA:14985|EMAPA:27379 uberon owl:Class UBERON:0001208 biolink:NamedThing submucosa of large intestine A submucosa that is part of a large intestine [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl large intestinal submucosa|large intestine submucosa|submucous layer of large intestine|tela submucosa intestini crassi UMLS:C0734204|FMA:14970|BTO:0002111|NCIT:C32930|MA:0002690|EMAPA:37560 uberon owl:Class HP:0011595 biolink:NamedThing Left aortic arch with retroesophageal right subclavian artery Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023278 peter 2012-04-08T02:09:39Z human_phenotype owl:Class HP:0031055 biolink:NamedThing Abnormal branching pattern of left aortic arch A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch). tmpxe7fu0cj_hp_relaxed.owl 2017-05-27 17:24:29+00:00 peter owl:Class UBERON:0011241 biolink:NamedThing ethmoid region The most anterior region of the braincase. Provides structural support for peripheral olfactory organ. tmpxe7fu0cj_hp_relaxed.owl AAO:0000986 currently this is not restricted to skeletal elements, unlike UBERONREF:0000007 uberon owl:Class HP:0007618 biolink:NamedThing Subcutaneous calcification Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). tmpxe7fu0cj_hp_relaxed.owl Skin calcification UMLS:C0263625|SNOMEDCT_US:17141001 owl:Class HP:0010766 biolink:NamedThing Ectopic calcification Deposition of calcium salts in a tissue or location in which calcification does not normally occur. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3806226 doelkens 2010-04-27T09:52:59Z human_phenotype owl:Class UBERON:0003516 biolink:NamedThing hindlimb blood vessel A blood vessel that is part of a hindlimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of lower extremity|blood vessel of hind limb|hind limb blood vessel|blood vessel of hindlimb EMAPA:37298|MA:0000659 uberon owl:Class UBERON:0003514 biolink:NamedThing limb blood vessel A blood vessel that is part of a limb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of limb EMAPA:36598|MA:0000687 uberon owl:Class GO:0002534 biolink:NamedThing cytokine production involved in inflammatory response The synthesis or release of a cytokine following a inflammatory stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. tmpxe7fu0cj_hp_relaxed.owl cytokine production involved in acute inflammatory response biological_process owl:Class GO:0001816 biolink:NamedThing cytokine production The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. tmpxe7fu0cj_hp_relaxed.owl interleukin secretion|interleukin production|cytokine secretion|interferon secretion|cytokine metabolic process|cytokine biosynthetic process|interferon production https://github.com/geneontology/go-ontology/issues/19116 Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select one of the 'regulation' children terms. GO:0050663|GO:0042089|GO:0042107|GO:0042032 biological_process owl:Class GO:1903708 biolink:NamedThing positive regulation of hemopoiesis Any process that activates or increases the frequency, rate or extent of hemopoiesis. tmpxe7fu0cj_hp_relaxed.owl upregulation of haemopoiesis|upregulation of hematopoiesis|activation of hematopoiesis|activation of hemopoiesis|upregulation of blood cell biosynthesis|activation of blood cell formation|up-regulation of haemopoiesis|up-regulation of hematopoiesis|activation of haemopoiesis|positive regulation of blood cell biosynthesis|upregulation of hemopoiesis|positive regulation of hematopoiesis|activation of blood cell biosynthesis|up regulation of blood cell biosynthesis|up-regulation of blood cell formation|positive regulation of blood cell formation|up-regulation of blood cell biosynthesis|up regulation of blood cell formation|up regulation of hematopoiesis|positive regulation of haemopoiesis|up regulation of hemopoiesis|upregulation of blood cell formation|up-regulation of hemopoiesis|up regulation of haemopoiesis An example of this is Atg7 in mouse (UniProt symbol, Q9D906) in PMID:20080761, inferred from mutant phenotype. pad 2014-12-04T15:34:30Z biological_process owl:Class GO:0002684 biolink:NamedThing positive regulation of immune system process Any process that activates or increases the frequency, rate, or extent of an immune system process. tmpxe7fu0cj_hp_relaxed.owl upregulation of immune system process|activation of immune system process|up-regulation of immune system process|stimulation of immune system process|up regulation of immune system process biological_process owl:Class UBERON:0014453 biolink:NamedThing gustatory epithelium of palate A gustatory epithelium that is part of a roof of mouth. tmpxe7fu0cj_hp_relaxed.owl palatal gustatory epithelium uberon owl:Class UBERON:0002424 biolink:NamedThing oral epithelium An epithelium that is part of the mouth and lines the oral cavity, typically stratified squamous, and may be para-, ortho- or non- keratinized. Primary barrier between oral environment and deeper tissues. tmpxe7fu0cj_hp_relaxed.owl epithelium of mucosa of mouth|epithelium of oral mucosa EMAPA:16839|VHOG:0000187|CALOHA:TS-0715|BTO:0001775|NCIT:C49595|UMLS:C1709332|XAO:0003201|MA:0000344|EMAPA:26942|ZFA:0000816|EHDAA:2187|EHDAA2:0001325|AAO:0010357|TAO:0000816|FMA:265152 consider including separate class for developmental structure (adult human is stratified; in EHDAA2 is unilaminar) uberon owl:Class The epithelium that lines the oral cavity. The oral epithelium epithelial cells with many short microvilli as well as mucous cells, rodlet cells and taste buds[ZFIN:ZDB-PUB-060921-12, ZFIN:ZDB-PUB-091204-24]. the avian oral epithelium has the developmental capacity to initiate tooth developmental programs with underlying grafts of non-avian oral ectomesenchyme HP:0041213 biolink:NamedThing Fractured proximal phalanx of digit 4 A partial or complete breakage of the proximal phalanx of digit 4. tmpxe7fu0cj_hp_relaxed.owl bone proximal phalanx of digit 4 owl:Class HP:0041083 biolink:NamedThing Fractured phalanx A partial or complete breakage of the phalanx. tmpxe7fu0cj_hp_relaxed.owl bone phalanx owl:Class HP:0100520 biolink:NamedThing Oliguria Low output of urine, clinically classified as an output below 300-500ml/day. tmpxe7fu0cj_hp_relaxed.owl MSH:D009846|SNOMEDCT_US:83128009|SNOMEDCT_US:718403007|UMLS:C0028961 The decreased output of urine may be a sign of dehydration, renal failure, hypovolemic shock, multiple organ dysfunction syndrome, or urinary obstruction/urinary retention. doelkens 2010-12-20T10:42:40Z human_phenotype owl:Class HP:0011037 biolink:NamedThing Decreased urine output A decreased rate of urine production. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3887784 A reduction in the overall amount of urine output. peter 2011-03-06T12:33:12Z human_phenotype owl:Class UBERON:0001449 biolink:NamedThing phalanx of pes A phalanx that is part of a hindlimb autopod[Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl phalanx of digitus pedis|phalanx of digit of foot|digital bone of pes|digitus pedis phalanx|phalanx of pes|bone of toe|phalanx of foot digit|toe phalanx|pedal phalanx|foot phalanx|phalanges of hind digit|phalanx of toe|foot digit phalanx|phalanx of hind digit EMAPA:32941|NCIT:C52772|AAO:0000930|UMLS:C0584876|ncithesaurus:Phalanx_of_the_Foot|FMA:24493|MA:0000305 UBERON:0004272 uberon owl:Class Dumb-bell shaped bones of endochondral origin with cartilaginous epiphyses that make the five digits of the pes. The terminal phalanges are much smaller than the proximal and penultimate phalanges. The typical phalangeal formula of the pes, in a medial to lateral sequence, is 2(1)-2-3-4(3)-3(2).[AAO] UBERON:0003608 biolink:NamedThing hindlimb long bone A long bone that is part of a hindlimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl long bone of inferior member|lower extremity long bone|hind limb long bone|inferior member long bone|long bone of hindlimb|long bone of lower extremity|long bone of hind limb EMAPA:35403|MA:0000300 uberon owl:Class HP:0012345 biolink:NamedThing Abnormal glycosylation An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022946 peter 2013-09-15T09:06:16Z human_phenotype owl:Class HP:0032245 biolink:NamedThing Abnormal metabolism An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 12:48:52+00:00 peter owl:Class HP:0008509 biolink:NamedThing Aged leonine appearance tmpxe7fu0cj_hp_relaxed.owl UMLS:C3550331 human_phenotype owl:Class HP:0007495 biolink:NamedThing Prematurely aged appearance tmpxe7fu0cj_hp_relaxed.owl Precociously senile appearance|Prematurely aged appearance UMLS:C1857656 HP:0001599 owl:Class UBERON:0012240 biolink:NamedThing urethral meatus External opening or orifice of the urethra through which urine and seminal fluid (in males only) leave the body; in males the meatus presents as a vertical slit normally positioned at the tip of glans penis; in females the meatus is located between the clitoris and the vagina in the vulvular vestibule of the female genitalia[MP]. tmpxe7fu0cj_hp_relaxed.owl urinary meatus|urethral meatus|orificium urethræ externum|external urethral orifice|external meatus of urethra|external urethral ostium|meatus urinarius|orificium urethrae externum|external urinary meatus EMAPA:37977|FMA:19650 uberon owl:Class UBERON:0010418 biolink:NamedThing urethral opening An orifice that is part of a lower urinary tract. tmpxe7fu0cj_hp_relaxed.owl urethral orifice MA:0002867|EMAPA:35965 uberon owl:Class PATO:0001409 biolink:NamedThing spindle-shaped A shape quality inhering in a bearer by virtue of the bearer's resembling a long tapered rod. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0002007 biolink:NamedThing convex 3-D shape A complete three dimensional shape in which for every line connecting pair of points on the object is within the object. Or: a shape lacking cavities. Contrast: concave. tmpxe7fu0cj_hp_relaxed.owl Image:http://upload.wikimedia.org/wikipedia/commons/0/06/Convex_polygon_illustration1.png Use this term or an is_a child of this term when the entire shape of the object is known. quality owl:Class UBERON:0003050 biolink:NamedThing olfactory placode A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity. tmpxe7fu0cj_hp_relaxed.owl placoda olfactoria|nasal placode|olfactory placodes|nasal I placode|placoda nasalis EFO:0003420|EHDAA2:0001232|FMA:293971|AAO:0011076|EMAPA:16543|ZFA:0000048|EHDAA:1504|TAO:0000048|VHOG:0000186|XAO:0000005 Olfactory placodes are the only ectodermal placodes to produce glia, a cell type typically derived from neural crest // Note that NBK53171 classifies this as non-neurogenic uberon owl:Class We conclude this section by listing some of the many synapomorphies of craniates, including (...) (2) neurogenic placodes (...).[well established][VHOG] UBERON:0009955 biolink:NamedThing neurogenic placode Cranial ectodermal placode with potential to develop into a component of the nervous system, such as nerves or ganglia. tmpxe7fu0cj_hp_relaxed.owl neurogenic placodes|placodae neurogenicae ZFA:0001309|Wikipedia:Neurogenic_placodes|EFO:0003460|TAO:0001309|XAO:0004620 Includes: trigeminal, otic, lateral line and epibranchial placodes. uberon owl:Class While some sensory placodes (otic and olfactory) may have homologues in basal chordates (Wada et al., 1998), the so-called neurogenenic placodes (trigeminal, otic, lateral line and epibranchial placodes) appear to have emerged at a later time (Shimeld and Holland, 2000) HP:0040268 biolink:NamedThing Recurrent infections of the middle ear Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections tmpxe7fu0cj_hp_relaxed.owl UMLS:C0747085 owl:Class HP:0000370 biolink:NamedThing Abnormality of the middle ear An abnormality of the middle ear. tmpxe7fu0cj_hp_relaxed.owl Middle ear abnormalities|Middle ear abnormality UMLS:C1861141 human_phenotype owl:Class HP:0009970 biolink:NamedThing Partial duplication of the proximal phalanx of the 3rd finger Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the proximal bone of the middle finger UMLS:C4024137 doelkens 2009-05-26T12:49:59Z human_phenotype owl:Class HP:0009961 biolink:NamedThing Partial duplication of the phalanges of the 3rd finger A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of middle finger bones UMLS:C4024142 doelkens 2009-05-26T12:46:36Z human_phenotype owl:Class HP:0100781 biolink:NamedThing Abnormal sacroiliac joint morphology An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone). tmpxe7fu0cj_hp_relaxed.owl Abnormality of the sacroiliac joint UMLS:C0262621 The sacroiliac joint (SIJ) is a true diarthrodial joint: matching articular surfaces separated by a joint space containing synovial fluid and enveloped by a fibrous capsule. It does, however, have unique characteristics not typically found in other diarthrodial joints. The SIJ has fibrocartilage in addition to hyaline cartilage. There is discontinuity of the posterior capsule. Rather than being smooth, the articular surfaces have many ridges and depressions that minimize movement and enhance stability. Primary stability, however, is attributed to the many adjacent ligaments. doelkens 2011-06-07T05:52:24Z owl:Class HP:0005107 biolink:NamedThing Abnormal sacrum morphology An abnormality of the sacral bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the sacrum UMLS:C4025250 The sacrum is the large, roughly triangular bone at the base of the verterbal column that is formed by fusion of the five sacral vertebrae S1 to S5. peter 2008-03-25T06:03:00Z human_phenotype owl:Class GO:0009892 biolink:NamedThing negative regulation of metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. tmpxe7fu0cj_hp_relaxed.owl inhibition of metabolic process|downregulation of metabolic process|down-regulation of metabolic process|inhibition of organismal metabolic process|negative regulation of metabolism|down regulation of metabolic process|negative regulation of multicellular organismal metabolic process|negative regulation of organismal metabolism GO:0044252 biological_process owl:Class UBERON:0004324 biolink:NamedThing middle phalanx of pedal digit 2 A middle phalanx that is part of a foot digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl intermediate phalanx of 2nd toe|middle phalanx of pedal digit II|2nd toe middle phalanx|foot digit 2 middle phalanx|middle phalanx of second digit of foot|intermediate phalanx of foot digit 2|foot digit 2 intermediate phalanx|middle phalanx of the 2nd toe|second middle phalanx of foot|middle phalanx of foot digit 2|2nd toe intermediate phalanx|middle phalanx of 2nd toe|middle phalanx of second toe FMA:32623 uberon owl:Class UBERON:0004301 biolink:NamedThing middle phalanx A phalanx located between proximal and distal phalanges. tmpxe7fu0cj_hp_relaxed.owl penultimate phalanx|phalanx 2|intermediate phalanx|phalanx II|medial phalanx AAO:0010677|EMAPA:35572|MA:0002915 consider using numbering system, and axioms to the effect that there is a single middle phalanx per finger in humans. This should perhaps be renamed 'intermediate phalanx', leaving the term middle phalanx open for the specific intermediate phalanx of a 3-phalanx digit uberon owl:Class in some groups such as whales, there are multiple intermediate phalanges|Intermediate phalanges are bones found in the limbs of most vertebrates. In humans, they are the bones of the finger and toe which lie in the middle, between the two wrinkly joints. The thumb and big toe do not have intermediate phalanges. In most other vertebrates, they have a corresponding place in their limbs, whether they be paw, wing, hoof or fin GO:0035240 biolink:NamedThing dopamine binding Binding to dopamine, a catecholamine neurotransmitter formed by aromatic-L-amino-acid decarboxylase from 3,4-dihydroxy-L-phenylalanine. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class GO:0005488 biolink:NamedThing binding The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. tmpxe7fu0cj_hp_relaxed.owl ligand Wikipedia:Binding_(molecular) Note that this term is in the subset of terms that should not be used for direct, manual gene product annotation. Please choose a more specific child term, or request a new one if no suitable term is available. For ligands that bind to signal transducing receptors, consider the molecular function term 'receptor binding ; GO:0005102' and its children. molecular_function owl:Class HP:0001059 biolink:NamedThing Pterygium Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. tmpxe7fu0cj_hp_relaxed.owl Surfer's eye|Pterygia SNOMEDCT_US:77489003|MSH:D011625|UMLS:C0033999 human_phenotype owl:Class HP:0001367 biolink:NamedThing Abnormal joint morphology An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. tmpxe7fu0cj_hp_relaxed.owl Joint disease|Abnormality of the joints|Abnormal shape of joints|Anomaly of the joints MSH:D007592|SNOMEDCT_US:399269003|UMLS:C0240083|UMLS:C0022408 owl:Class HP:0005505 biolink:NamedThing Refractory anemia tmpxe7fu0cj_hp_relaxed.owl Refractory anaemia MSH:D000753|SNOMEDCT_US:128845005|UMLS:C0002893 human_phenotype owl:Class HP:0001903 biolink:NamedThing Anemia A reduction in erythrocytes volume or hemoglobin concentration. tmpxe7fu0cj_hp_relaxed.owl Low number of red blood cells or hemoglobin|Decreased haemoglobin|Anaemia|Low number of red blood cells or haemoglobin|Decreased hemoglobin UMLS:C0002871|UMLS:C0162119|MSH:D000740|SNOMEDCT_US:271737000|SNOMEDCT_US:165397008 Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias. HP:0001926|HP:0003136|HP:0005509 human_phenotype owl:Class HP:0045046 biolink:NamedThing Reduced insulin like growth factor binding protein acid labile subunit level Blood concentration of insulin like growth factor binding protein acid labile subunit level below normal limits. tmpxe7fu0cj_hp_relaxed.owl Decreased levels of acid labile subunit|Acid-labile subunit deficiency UMLS:C3900122 Insulin-like growth factor binding protein, acid labile subunit, also known as IGFALS, is a protein which in humans is encoded by the IGFALS gene. owl:Class HP:0031034 biolink:NamedThing Abnormal insulin like growth factor binding protein acid labile subunit level A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier. tmpxe7fu0cj_hp_relaxed.owl 2017-05-27 11:20:49+00:00 Plasma IGFALS is positively associated with prostate cancer risk. peter owl:Class HP:0000840 biolink:NamedThing Adrenogenital syndrome Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:237751000|UMLS:C0302280|MSH:D047808|SNOMEDCT_US:271077003|SNOMEDCT_US:267395000 HP:0001921 human_phenotype owl:Class HP:0008373 biolink:NamedThing Puberty and gonadal disorders tmpxe7fu0cj_hp_relaxed.owl Puberty and gonadal disorders UMLS:C4024685 peter 2008-04-04T12:35:00Z HP:0000827 human_phenotype owl:Class HP:0005240 biolink:NamedThing Esophageal obstruction tmpxe7fu0cj_hp_relaxed.owl UMLS:C0239296|SNOMEDCT_US:405247003 human_phenotype owl:Class HP:0002031 biolink:NamedThing Abnormal esophagus morphology A structural abnormality of the esophagus. tmpxe7fu0cj_hp_relaxed.owl Abnormality of esophagus structure|Abnormal oesophagus morphology|Anomaly of the esophagus|Anomaly of the oesophagus|Abnormality of oesophagus structure UMLS:C0266126|SNOMEDCT_US:69771008 owl:Class HP:0200123 biolink:NamedThing Chronic hepatitis Hepatitis that lasts for more than six months. tmpxe7fu0cj_hp_relaxed.owl Chronic liver inflammation UMLS:C0019189|MSH:D006521|SNOMEDCT_US:76783007 sebastiankohler 2013-06-11T11:20:53Z human_phenotype owl:Class HP:0012115 biolink:NamedThing Hepatitis Inflammation of the liver. tmpxe7fu0cj_hp_relaxed.owl Liver inflammation UMLS:C0019158|SNOMEDCT_US:128241005|MSH:D006505 hecht 2012-09-16T05:03:29Z human_phenotype owl:Class GO:1904027 biolink:NamedThing negative regulation of collagen fibril organization Any process that stops, prevents or reduces the frequency, rate or extent of collagen fibril organization. tmpxe7fu0cj_hp_relaxed.owl down-regulation of collagen fibril organisation|inhibition of fibrillar collagen organization|negative regulation of fibrillar collagen organization|downregulation of collagen fibril organization|down regulation of collagen fibril organisation|down-regulation of collagen fibril organization|down regulation of fibrillar collagen organization|down regulation of collagen fibril organization|downregulation of collagen fibril organisation|downregulation of fibrillar collagen organization|inhibition of collagen fibril organisation|inhibition of collagen fibril organization|down-regulation of fibrillar collagen organization|negative regulation of collagen fibril organisation ae 2015-03-12T12:36:59Z biological_process owl:Class CHEBI:23690 biolink:NamedThing dicarboxylic acid amide tmpxe7fu0cj_hp_relaxed.owl dicarboxylic acid amides chebi_ontology owl:Class CHEBI:37622 biolink:NamedThing carboxamide An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom. tmpxe7fu0cj_hp_relaxed.owl carboxamides|primary carboxamide 0 CNOR3 42.01680 41.99799 [*]C(=O)N([*])[*] CHEBI:35354|CHEBI:35355 chebi_ontology owl:Class HP:0003905 biolink:NamedThing Abnormality of the humeral epiphyseal plate tmpxe7fu0cj_hp_relaxed.owl Abnormality of arm long bone growth plate UMLS:C4025518|UMLS:C4280541 human_phenotype owl:Class HP:0003891 biolink:NamedThing Abnormality of the humeral epiphysis An anomaly of the humeral epiphysis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the humeral epiphyses|Abnormality of end part of the long bone of the upper arm UMLS:C4021714 human_phenotype owl:Class GO:0042465 biolink:NamedThing kinesis The movement of a cell or organism in response to a stimulus in which the rate of movement depends on the intensity (rather than the direction) of the stimulus. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Kinesis biological_process owl:Class GO:0009605 biolink:NamedThing response to external stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. tmpxe7fu0cj_hp_relaxed.owl response to environmental stimulus Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class HP:0009213 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 5th finger A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. tmpxe7fu0cj_hp_relaxed.owl Delta-shaped epiphysis of the middle phalanx of the 5th finger|Triangular end part of the middle bone of the pinky finger|Triangular end part of the middle bone of the pinkie finger|Triangular end part of the middle bone of the little finger UMLS:C4021511 doelkens 2009-01-05T05:22:18Z human_phenotype owl:Class HP:0004224 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 5th finger Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of middle little finger bone|Abnormality of the end part of middle pinky finger bone|Abnormality of the end part of middle pinkie finger bone UMLS:C4025405 human_phenotype owl:Class HP:0410223 biolink:NamedThing Increased anti-dust mite IgE antibody level Increased level of IgE antibody against dust mites, such as house dust mites. tmpxe7fu0cj_hp_relaxed.owl Increased level of anti-dust mite IgE antibody 2018-10-03 16:52:07+00:00 owl:Class HP:0032336 biolink:NamedThing Increased circulating specific IgE antibody tmpxe7fu0cj_hp_relaxed.owl 2019-02-18 14:13:53+00:00 peter owl:Class UBERON:0035881 biolink:NamedThing ethmoidomaxillary suture A suture between the orbital surface of the body of the maxilla with the orbital plate of the ethmoid bone. tmpxe7fu0cj_hp_relaxed.owl ethmoidomaxillary suture of skull|sutura ethmoidomaxillaris FMA:52954 uberon owl:Class UBERON:0003685 biolink:NamedThing cranial suture Fibrous joint in which the articulating bones or cartilages of the skull are connected by sutural ligaments (scant amount of collagenous dense connective tissue). Examples: sagittal suture, frontal suture. tmpxe7fu0cj_hp_relaxed.owl suture of cranium|suture joint of skull|cranium suture|suture|sutura GAID:211|EMAPA:35263|FMA:7493|SCTID:244509003|MESH:D003393|MA:0001475|Wikipedia:Suture_(joint) uberon owl:Class GO:0097272 biolink:NamedThing ammonium homeostasis Any biological process involved in the maintenance of an internal steady state of ammonium. tmpxe7fu0cj_hp_relaxed.owl ammonia homeostasis pr 2012-03-22T02:51:22Z biological_process owl:Class GO:0048878 biolink:NamedThing chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0002136 biolink:NamedThing Broad-based gait An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. tmpxe7fu0cj_hp_relaxed.owl Wide based gait|Wide-based gait|Broad based gait|Wide based walk UMLS:C0856863 human_phenotype owl:Class HP:0001288 biolink:NamedThing Gait disturbance The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. tmpxe7fu0cj_hp_relaxed.owl Impaired gait|Gait difficulties|Gait abnormalities|Gait disturbances|Abnormal walk|Abnormal gait SNOMEDCT_US:22325002|UMLS:C0575081 If possible, this term should not be used for new annotations. Rather, a more specific term should be sought. HP:0006953 human_phenotype owl:Class HP:0100249 biolink:NamedThing Calcification of muscles Deposition of calcium salts in muscle tissue. tmpxe7fu0cj_hp_relaxed.owl Skeletal muscle calcinosis SNOMEDCT_US:446993003|UMLS:C2960760 doelkens 2010-07-09T12:32:25Z human_phenotype owl:Class HP:0011805 biolink:NamedThing Abnormal skeletal muscle morphology A structural abnormality of a skeletal muscle. tmpxe7fu0cj_hp_relaxed.owl Issue with muscle structure|Abnormally shaped muscle|Abnormality of muscle morphology|Abnormal muscle morphology UMLS:C4023181 peter 2012-04-25T02:00:34Z HP:0003735 human_phenotype owl:Class HP:0030972 biolink:NamedThing Abnormal systemic blood pressure A chronic deviation from normal pressure in the systemic arterial system. tmpxe7fu0cj_hp_relaxed.owl Abnormal systemic BP 2017-04-18 13:55:40+00:00 robinp owl:Class HP:0011025 biolink:NamedThing Abnormal cardiovascular system physiology Abnormal functionality of the cardiovascular system. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cardiovascular system physiology UMLS:C4023587 peter 2011-03-03T10:23:19Z owl:Class UBERON:0005837 biolink:NamedThing fasciculus of spinal cord A fascicle that is part of a spinal cord. tmpxe7fu0cj_hp_relaxed.owl spinal cord fasciculus FMA:75799 uberon owl:Class UBERON:0011215 biolink:NamedThing central nervous system cell part cluster A multi cell part structure that is part of a central nervous system. tmpxe7fu0cj_hp_relaxed.owl cell part cluster of neuraxis|neuraxis layer FMA:83143 uberon owl:Class HP:0031412 biolink:NamedThing Abnormal telomere morphology tmpxe7fu0cj_hp_relaxed.owl 2017-09-04 15:24:23+00:00 peter owl:Class HP:0031411 biolink:NamedThing Abnormal chromosome morphology Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order. tmpxe7fu0cj_hp_relaxed.owl 2017-09-04 15:22:36+00:00 Fyler:4013 peter owl:Class HP:0100164 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 3rd toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022257 doelkens 2010-06-24T10:24:45Z owl:Class HP:0100093 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the innermost bone of the 3rd toe UMLS:C4022328 doelkens 2010-06-24T10:02:07Z human_phenotype owl:Class GO:0070831 biolink:NamedThing basement membrane assembly The aggregation, arrangement and bonding together of a set of components to form a basement membrane, a part of the extracellular region that consists of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. tmpxe7fu0cj_hp_relaxed.owl Note that this term has no relationship to 'membrane assembly ; GO:0071709' because the basement membrane is not a lipid bilayer. mah 2009-07-23T05:01:51Z biological_process owl:Class GO:0022607 biolink:NamedThing cellular component assembly The aggregation, arrangement and bonding together of a cellular component. tmpxe7fu0cj_hp_relaxed.owl cell structure assembly|cellular component assembly at cellular level GO:0071844 biological_process owl:Class HP:0031479 biolink:NamedThing Dilatation of the mitral annulus An increase in the diameter of the ring (annulus) of the mitral valve. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 22:28:40+00:00 peter owl:Class HP:0001633 biolink:NamedThing Abnormal mitral valve morphology Any structural anomaly of the mitral valve. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the mitral valve UMLS:C4025759 HP:0031477 human_phenotype owl:Class HP:0032777 biolink:NamedThing Focal impaired awareness autonomic seizure with pallor/flushing A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032762 biolink:NamedThing Focal autonomic seizure with pallor/flushing A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032711 biolink:NamedThing Focal aware clonic seizure A type of focal clonic seizure during which awareness is fully retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0002266 biolink:NamedThing Focal clonic seizure A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. tmpxe7fu0cj_hp_relaxed.owl Localized clonic seizure|Partial clonic seizure|Focal clonic seizures|Localised clonic seizure|Segmental clonic seizure UMLS:C0752323|MSH:D020938 The movement involves sustained rhythmic jerking, this may involve a limb, half the face or one side of the body, and may spread according to a Jacksonian march: The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus). human_phenotype owl:Class UBERON:0010935 biolink:NamedThing tensor tympani pre-muscle condensation tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0002002 uberon owl:Class UBERON:0005865 biolink:NamedThing pre-muscle condensation tmpxe7fu0cj_hp_relaxed.owl premuscle mass|pre muscle mass AEO:0000149|EHDAA2_RETIRED:0003149 UBERON:0008714 uberon owl:Class GO:1901495 biolink:NamedThing negative regulation of cysteine metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of cysteine metabolic process. tmpxe7fu0cj_hp_relaxed.owl down-regulation of cysteine metabolism|down-regulation of cysteine metabolic process|inhibition of cysteine metabolism|downregulation of cysteine metabolism|negative regulation of cysteine metabolism|inhibition of cysteine metabolic process|downregulation of cysteine metabolic process|down regulation of cysteine metabolic process|down regulation of cysteine metabolism vw 2012-10-16T14:28:47Z biological_process owl:Class GO:0008150 biolink:NamedThing biological_process A biological process represents a specific objective that the organism is genetically programmed to achieve. Biological processes are often described by their outcome or ending state, e.g., the biological process of cell division results in the creation of two daughter cells (a divided cell) from a single parent cell. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence. tmpxe7fu0cj_hp_relaxed.owl single-organism process|biological process|single organism process|physiological process Wikipedia:Biological_process Note that, in addition to forming the root of the biological process ontology, this term is recommended for use for the annotation of gene products whose biological process is unknown. When this term is used for annotation, it indicates that no information was available about the biological process of the gene product annotated as of the date the annotation was made; the evidence code 'no data' (ND), is used to indicate this. jl 2012-09-19T15:05:24Z GO:0044699|GO:0007582|GO:0000004 biological_process owl:Class PATO:0001510 biolink:NamedThing functional A functionality quality held by the bearer when the latter is able to perform a regular function(s). tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0001509 biolink:NamedThing functionality A quality of a single physical entity that arises by virtue of whether the bearer exhibits the ability to perform a regular function(s). tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0009850 biolink:NamedThing Triangular shaped middle phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Triangular shaped middle finger bones of the hand UMLS:C4024183 doelkens 2009-03-11T12:15:55Z HP:0009876 human_phenotype owl:Class HP:0009774 biolink:NamedThing Triangular shaped phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Delta phalanx/delta-like phalanx|Triangular shaped hand bones UMLS:C2673397 doelkens 2009-02-02T11:38:04Z HP:0006085|HP:0009874 human_phenotype owl:Class HP:0032146 biolink:NamedThing HbC hemoglobin Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis. tmpxe7fu0cj_hp_relaxed.owl Haemoglobin C|HbC haemoglobin|Hemoglobin C 2018-11-22 16:41:53+00:00 peter owl:Class HP:0011902 biolink:NamedThing Abnormal hemoglobin Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. tmpxe7fu0cj_hp_relaxed.owl Abnormal Hb|Abnormal haemoglobin UMLS:C0349705 peter 2012-06-03T03:53:23Z human_phenotype owl:Class HP:0030853 biolink:NamedThing Heterotaxy An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. tmpxe7fu0cj_hp_relaxed.owl Heterotaxia SNOMEDCT_US:14821001|SNOMEDCT_US:24614000|Fyler:0190|Fyler:190|MSH:D059446|UMLS:C0266642 In the normal body, the internal organs are arranged in different patterns on the right and left sides, and are not mirror images of each other. Hence, if asymmetry of the thoracic and abdominal organs is the usual or normal situation, the syndrome of visceral heterotaxy includes patients with an unusual degree of symmetry of some of the thoracic and abdominal organs, and the atrial appendages within the heart. owl:Class HP:0001507 biolink:NamedThing Growth abnormality tmpxe7fu0cj_hp_relaxed.owl Abnormal growth|Growth issue|Growth abnormality UMLS:C0262361 HP:0008904 owl:Class UBERON:0001971 biolink:NamedThing gastric juice . tmpxe7fu0cj_hp_relaxed.owl succus gastricus|stomach secretion FMA:62972|NCIT:C32661|GAID:1160|galen:GastricJuice|MA:0002519|Wikipedia:Gastric_juice|BTO:0000501|MESH:D005750|UMLS:C0017133 uberon owl:Class UBERON:0000456 biolink:NamedThing secretion of exocrine gland A portion of organism substance that is produced by exocrine glands. tmpxe7fu0cj_hp_relaxed.owl exocrine gland secretion|secreted substance|exocrine gland fluid|external secretion|bodily secretion|exocrine gland fluid/secretion|exocrine gland fluid or secretion|secretion EMAPA:36535|galen:Secretion|BTO:0002977|MA:0002504|AEO:0001005|NCIT:C34062|UMLS:C1516992|MESH:D012634|FMA:9675|BTO:0002979 UBERON:0006540 uberon owl:Class BTO has two distunct classes, with exocrine glandular secretion a subtype of secretion - however, all examples in BTO directly under secretion appear to be exocrine gland secretions GO:0048644 biolink:NamedThing muscle organ morphogenesis The process in which the anatomical structures of muscle are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1905806 biolink:NamedThing regulation of synapse pruning Any process that modulates the frequency, rate or extent of synapse pruning. tmpxe7fu0cj_hp_relaxed.owl regulation of synapse clearance|regulation of synapse elimination|regulation of synapse disassembly|regulation of synapse removal tb 2017-01-11T22:03:15Z biological_process owl:Class HP:0032856 biolink:NamedThing Focal aware bilateral motor seizure A type of focal bilateral motor seizure during which awareness is fully retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0020217 biolink:NamedThing Focal aware motor seizure A type of focal motor seizure in which awareness is retained throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal motor aware seizure robinp 2020-02-24 14:10:19+00:00 owl:Class PATO:0002519 biolink:NamedThing cancellous tmpxe7fu0cj_hp_relaxed.owl owl:Class PATO:0000141 biolink:NamedThing structure A morphology quality inhering in a bearer by virtue of the bearer's relative position, shape, arrangements and connectivity of an organism's various parts; the pattern underlying its form. tmpxe7fu0cj_hp_relaxed.owl relational structural quality|conformation PATO:0001452 quality owl:Class PATO:0000547 biolink:NamedThing photosensitive A photosensitivity quality inhering in a bearer by virtue of the bearer's exhibiting photosensitivity. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0000927 biolink:NamedThing photosensitivity A quality inhering in a bearer by virtue of the bearer's disposition to being sensitivity to the action of radiant energy. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0012663 biolink:NamedThing Mildly reduced ejection fraction A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022793 peter 2014-02-15T01:06:28Z human_phenotype owl:Class HP:0012664 biolink:NamedThing Reduced ejection fraction A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022792 The normal range is at least 55 percent. peter 2014-02-15T01:03:37Z human_phenotype owl:Class HP:0031654 biolink:NamedThing Abnormal pulmonary valve physiology Any functional anomaly of the pumonary valve. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 15:24:28+00:00 peter owl:Class HP:0031653 biolink:NamedThing Abnormal heart valve physiology Any functional abnormality of a cardiac valve. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 15:21:49+00:00 peter owl:Class UBERON:0000975 biolink:NamedThing sternum A midventral endochondral skeletal element which represents the origin site of the pectoral muscles[PHENOSCAPE:ad]. tmpxe7fu0cj_hp_relaxed.owl vertebrate sternum|breastbone galen:Sternum|OpenCyc:Mx4rvVjO6JwpEbGdrcN5Y29ycA|FMA:7485|EMAPA:18344|MA:0001331|NCIT:C12793|UMLS:C0038293|GAID:246|CALOHA:TS-0972|EHDAA2:0001914|VHOG:0000856|BTO:0001302|MESH:D013249|AAO:0000765|EHDAA:9561 http://upload.wikimedia.org/wikipedia/commons/1/12/Illu_thoracic_cage.jpg in EMAPA and EHDAA2 this is part of the skeleton of pectoral girdle; the classic def of pectoral girdle (see WP) excludes the rib cage and sternum uberon owl:Class Single element that constitutes the postzonal area of the pectoral girdle.[AAO] relationship loss: part_of postzonal element (AAO:0000938)[AAO] Fishes lack a sternum. (...) A sternum is absent in the first fossil tetrapods, but it is present in modern amphibians. (...) Thus, a sternum occurs in some modern amphibians, birds, mammals and archosaurs. However, its absence in the common ancestors to these groups means that it has arisen independently several times within the field of the midventral connective tissue.[well established][VHOG] sternal It probably first evolved in early tetrapods as an extension of the pectoral girdle; it is not found in fish. In amphibians and reptiles it is typically a shield-shaped structure, often composed entirely of cartilage. It is absent in both turtles and snakes. In birds it is a relatively large bone and typically bears an enormous projecting keel to which the flight muscles are attached. Only in mammals does the sternum take on the elongated, segmented form seen in humans. In some mammals, such as opossums, the individual segments never fuse and remain separated by cartilagenous plates throughout life|in birds, either ratite (no keel or carina) or carinate (keel and carina present) While its developmental origins are similar to the ribs (from the myospetum and septum of the trunk region), it is often associated with the pectoral skeleton, due to both function and physical connections (i.e. the coracoid of archosaurs). It may be a single element or a series of smaller structure (sternebrae). Based on Kardong 2012. [PHENOSCAPE:ad]. UBERON:0005181 biolink:NamedThing thoracic segment organ An organ that part of the thoracic segment region. This region can be further subdividied chest and thoracic cavity regions. tmpxe7fu0cj_hp_relaxed.owl upper body organ EMAPA:37271|MA:0000563 uberon owl:Class GO:0090290 biolink:NamedThing positive regulation of osteoclast proliferation Any process that increases the rate, frequency, or extent of the multiplication or reproduction of osteoclasts, resulting in the expansion of an osteoclast cell population. tmpxe7fu0cj_hp_relaxed.owl tb 2010-02-18T03:11:03Z biological_process owl:Class UBERON:0003420 biolink:NamedThing mesenchyme of sublingual gland Mesenchyme that is part of a developing sublingual gland [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl ductus sublingualis mesenchyme|mesenchyme of Rivinus'gland|Rivinus'gland mesenchyme|sublingual gland mesenchyme|mesenchyme of ductus sublingualis EMAPA:18811|VHOG:0001106 uberon owl:Class UBERON:0005253 biolink:NamedThing head mesenchyme Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells. tmpxe7fu0cj_hp_relaxed.owl cephalic mesenchyme|desmocranium|cranial mesenchyme EMAPA:16098|VHOG:0000332|EFO:0003492|ZFA:0000113|EMAPA_RETIRED:16269|TAO:0000113|EHDAA2:0000732|EHDAA:179|FMA:76622 uberon owl:Class Mesoderm that will give rise, along with cranial neural crest cells, to connective tissue, bone and musculature in the head. (Source: BioGlossary, www.Biology-Text.com)[TAO] HP:0040330 biolink:NamedThing Confluent hyperintensity of cerebral white matter on MRI Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together. tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-5316-1399 owl:Class HP:0007204 biolink:NamedThing Diffuse white matter abnormalities tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024923 This finding is demonstrated by cerebral computer tomography or magnetic resonance imaging. ORCID:0000-0002-5316-1399 owl:Class UBERON:0016408 biolink:NamedThing corona of glans penis The circumference of the base of the glans forms a rounded projecting border, the corona of the glans penis, overhanging a deep retroglandular sulcus, behind which is the neck of the penis. tmpxe7fu0cj_hp_relaxed.owl glans corona|corona of penis|corona glandis FMA:19627 uberon owl:Class UBERON:0005156 biolink:NamedThing reproductive structure Any anatomical structure that is part of the reproductive system. tmpxe7fu0cj_hp_relaxed.owl reproductive system structure|reproductive system element uberon owl:Class CL:0002371 biolink:NamedThing somatic cell A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell). tmpxe7fu0cj_hp_relaxed.owl FMA:72300|WBbt:0008378|BTO:0001268 tmeehan 2010-09-24T09:44:42Z cell owl:Class CL:0000779 biolink:NamedThing multinuclear osteoclast A specialized multinuclear osteoclast associated with the absorption and removal of bone. tmpxe7fu0cj_hp_relaxed.owl multinucleated osteoclast Morphology: multinucleated, highly vesicular. cell owl:Class CL:0000092 biolink:NamedThing osteoclast A specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, which typically differentiates from monocytes. This cell has the following markers: tartrate-resistant acid phosphatase type 5-positive, PU.1-positive, c-fos-positive, nuclear factor NF-kappa-B p100 subunit-positive, tumor necrosis factor receptor superfamily member 11A-positive and macrophage colony-stimulating factor 1 receptor-positive. tmpxe7fu0cj_hp_relaxed.owl chondroclast FMA:66781|BTO:0000968|CALOHA:TS-0721 Morphology: Highly vesicular; markers: Surface: RANK, cFMS (MCSF receptor); Secreted: cathepsin K and TRAP (tartate resistant acid phosphatase); transcription factors: PU.1, cFOS, MITF, NFkB (p52); role or process: tissue remodelling: bone resorption; lineage: hematopoietic, myeloid. cell owl:Class PATO:0001796 biolink:NamedThing decreased coiling A coiling which is relatively low. tmpxe7fu0cj_hp_relaxed.owl low coiling quality owl:Class PATO:0002303 biolink:NamedThing decreased object quality A quality of an object that has a value that is decreased compared to normal or average. tmpxe7fu0cj_hp_relaxed.owl 2011-06-16T06:51:54Z quality owl:Class HP:0007082 biolink:NamedThing Dilated third ventricle An increase in size of the third ventricle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024941 The thrid ventricle is midline between the two lateral ventricles, and it communicates between them and the fourth ventricle. owl:Class HP:0010951 biolink:NamedThing Abnormal third ventricle morphology An abnormality of the third ventricle. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the third ventricle UMLS:C4023629 The third ventricle is the cerebral ventricle that is located in the midline between the left and right lateral ventricles. peter 2011-01-17T01:00:31Z owl:Class GO:0006704 biolink:NamedThing glucocorticoid biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0006694 biolink:NamedThing steroid biosynthetic process The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. tmpxe7fu0cj_hp_relaxed.owl steroid anabolism|steroid formation|steroid synthesis|steroid biosynthesis|steroidogenesis Wikipedia:Steroid_metabolisms#Steroid_biosynthesis biological_process owl:Class UBERON:0001529 biolink:NamedThing brachiocephalic artery The short first aortic arch branch and divides into the right subclavian artery and the right common carotid artery. tmpxe7fu0cj_hp_relaxed.owl truncus brachiocephalicus|innominate|innominate artery|brachiocephalic trunk MESH:D016122|galen:BrachioCephalicArtery|MA:0001922|SCTID:244244002|UMLS:C0006094|EMAPA:17615|OpenCyc:Mx4rv9mMTpwpEbGdrcN5Y29ycA|EHDAA2:0000835|Wikipedia:Brachiocephalic_artery|NCIT:C32814|FMA:3932|GAID:476|EFO:0002550 http://upload.wikimedia.org/wikipedia/commons/e/e6/Gray506.svg uberon owl:Class UBERON:0004573 biolink:NamedThing systemic artery An artery of the systemic circulation, which is the part of the cardiovascular system which carries oxygenated blood away from the heart, to the body, and returns deoxygenated blood back to the heart. tmpxe7fu0cj_hp_relaxed.owl systemic arterial subtree FMA:66464|EMAPA:37126|Wikipedia:Artery#Systemic_arteries uberon owl:Class UBERON:0036247 biolink:NamedThing incudomallear joint The saddle-shaped synovial joint connecting the incus and the malleus. tmpxe7fu0cj_hp_relaxed.owl incudomalleolar joint|articulatio incudomallearis|incudomallear articulation FMA:60064 uberon owl:Class UBERON:0036248 biolink:NamedThing joint of auditory ossicle Any synovial joint that connects auditory ossicles. tmpxe7fu0cj_hp_relaxed.owl joint of auditory ossicles|auditory ossicles joint|auditory ossicle joint FMA:60063 uberon owl:Class GO:1902019 biolink:NamedThing regulation of cilium-dependent cell motility Any process that modulates the frequency, rate or extent of cilium-dependent cell motility. tmpxe7fu0cj_hp_relaxed.owl regulation of cilium cell motility|regulation of ciliary cell motility jl 2013-03-27T14:42:38Z biological_process owl:Class HP:0007374 biolink:NamedThing Atrophy/Degeneration involving the caudate nucleus tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024895 peter 2008-04-01T10:47:00Z human_phenotype owl:Class HP:0002339 biolink:NamedThing Abnormal caudate nucleus morphology Any structural abnormality of the caudate nucleus. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the caudate nucleus UMLS:C4025711 The caudate nucleus is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent. human_phenotype owl:Class GO:0045787 biolink:NamedThing positive regulation of cell cycle Any process that activates or increases the rate or extent of progression through the cell cycle. tmpxe7fu0cj_hp_relaxed.owl upregulation of progression through cell cycle|positive regulation of progression through cell cycle|activation of progression through cell cycle|stimulation of progression through cell cycle|up regulation of progression through cell cycle|positive regulation of cell cycle progression|up-regulation of progression through cell cycle biological_process owl:Class GO:0051726 biolink:NamedThing regulation of cell cycle Any process that modulates the rate or extent of progression through the cell cycle. tmpxe7fu0cj_hp_relaxed.owl cell cycle regulation|regulation of cell cycle progression|positive regulation of cell cycle arrest|mitotic cell cycle arrest|control of cell cycle progression|cell cycle arrest|cell cycle modulation|negative regulation of cell cycle arrest|modulation of cell cycle progression|cell cycle regulator|regulation of progression through cell cycle|regulation of cell cycle arrest|tumor suppressor|arrest of mitotic cell cycle progression GO:0000074|GO:0071157|GO:0071850|GO:0071158|GO:0071156|GO:0007050 biological_process owl:Class HP:0041093 biolink:NamedThing Beau's lines A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease. tmpxe7fu0cj_hp_relaxed.owl Ladder nail sign|Ladder nail|Beau lines owl:Class HP:0008404 biolink:NamedThing Nail dystrophy Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. tmpxe7fu0cj_hp_relaxed.owl Onychodystrophy|Poor nail formation|Dystrophic nails UMLS:C0221260|SNOMEDCT_US:87065009|MEDDRA:10028698 Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use. HP:0008382|HP:0008408|HP:0008397 owl:Class UBERON:0003091 biolink:NamedThing thyroid primordium The initial thyroid precursor, the thyroid primordium, starts as a simple midline thickening and develops to form the thyroid diverticulum. This structure is initially hollow, although it later solidifies and becomes bilobed. The 2 lobes are located on either side of the midline and are connected via an isthmus. tmpxe7fu0cj_hp_relaxed.owl thyroid primordia EHDAA2:0002033|BTO:0004709|EHDAA:952|TAO:0001081|EMAPA:16361|XAO:0000444|ZFA:0001081|NCIT:C34312|UMLS:C1519512|AAO:0011106 uberon owl:Class Portion of tissue part of the pharyngeal endoderm that is fated to become thyroid follicle[ZFIN:curator]. In all vertebrates the thyroid arises from the ventral aspect of the second pouch Note that we follow EHDAA2 in dividing this into endoderm and mesenchyme. In this ontology we place the broad developmental relationship at this level, and include specific relationships to the pharyngeal endoderm at the level of the endoderm HP:0011024 biolink:NamedThing Abnormality of the gastrointestinal tract An abnormality of the gastrointestinal tract. tmpxe7fu0cj_hp_relaxed.owl Digestive system disease|Gastrointestinal disease|Abnormality of the GI tract|Abnormality of the gastrointestinal tract SNOMEDCT_US:25374005|SNOMEDCT_US:119292006|UMLS:C0017178|MSH:D005767|SNOMEDCT_US:53619000|UMLS:C0012242|UMLS:C4023588|MSH:D004066 peter 2011-03-01T07:52:06Z human_phenotype owl:Class HP:0025031 biolink:NamedThing Abnormality of the digestive system tmpxe7fu0cj_hp_relaxed.owl 2016-08-27 13:44:32+00:00 Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus. HPO:probinson owl:Class UBERON:0004209 biolink:NamedThing renal vesicle The renal vesicle is the primordial structure of the nephron epithelium, and is formed by the condensation of mesenchymal cells. tmpxe7fu0cj_hp_relaxed.owl stage I nephron note that this class includes both metanephric and mesonephric vesicles - ZFA and EHDAA2 associations are placed with these classes. TODO - make a more specific develops_from relationship - see UBERON:0005107 ! metanephric cap uberon owl:Class UBERON:0007503 biolink:NamedThing epithelial vesicle A closed epithelium with a lumen. tmpxe7fu0cj_hp_relaxed.owl AEO:0000119|EHDAA2:0003119 EHDAA2:0003119 uberon owl:Class HP:0025254 biolink:NamedThing Ameliorated by An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable tmpxe7fu0cj_hp_relaxed.owl Improved by 2016-12-17 14:17:46+00:00 HPO:probinson owl:Class HP:0012823 biolink:NamedThing Clinical modifier This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. tmpxe7fu0cj_hp_relaxed.owl Phenotypic modifier UMLS:C4021064 Note that some of the terms, such as Intellectual disability, have children terms such as Severe intellectual disability that represent precomposed combinations of modifiers and phenotypic abnormality terms. This done where the medical community commonly uses these terms with a fixed meaning (for instance, the Intellectual disability terms are used with specific IQ ranges). For computational reasoning, the semantics are intended to be the same as if there was a combination of the phenotype term and the clinical modifier term. peter 2014-06-06T06:34:24Z HP:0000004 human_phenotype owl:Class HP:0003354 biolink:NamedThing Hyperthreoninemia An increased concentration of threonine in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood threonine levels|Elevated circulating threonine UMLS:C1848861 human_phenotype owl:Class HP:0010900 biolink:NamedThing Abnormal circulating threonine concentration Any deviation from the normal concentration of threonine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of threonine metabolism UMLS:C4023666 peter 2010-12-02T04:42:19Z human_phenotype owl:Class GO:0090023 biolink:NamedThing positive regulation of neutrophil chemotaxis Any process that increases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. tmpxe7fu0cj_hp_relaxed.owl tb 2009-08-03T10:12:23Z biological_process owl:Class MPATH:342 biolink:NamedThing myeloid leukaemia Leukaemias of the myeloid lineage. tmpxe7fu0cj_hp_relaxed.owl granulocytic leukaemia URL:http://www.bloodjournal.org/cgi/content/full/100/1/238/DC1/2 mouse_pathology.ontology owl:Class MPATH:496 biolink:NamedThing Non-Lymphoid leukaemias Neoplasms of non-lymphoid haematopoietic lineage. Must have at least 20% blast cells to meet this definition. tmpxe7fu0cj_hp_relaxed.owl URL:http://www.bloodjournal.org/cgi/content/full/100/1/238/DC1/2 mouse_pathology.ontology owl:Class HP:0012125 biolink:NamedThing Prostate cancer A cancer of the prostate. tmpxe7fu0cj_hp_relaxed.owl Prostatic cancer UMLS:C0376358|MSH:D011471|SNOMEDCT_US:399068003 hecht 2012-09-16T06:33:32Z human_phenotype owl:Class HP:0100787 biolink:NamedThing Prostate neoplasm tmpxe7fu0cj_hp_relaxed.owl MSH:D011471|SNOMEDCT_US:126906006|UMLS:C0033578 doelkens 2011-06-07T06:29:49Z human_phenotype owl:Class UBERON:0014400 biolink:NamedThing hepatic sinusoidal space A sinusoidal space that is part of a hepatic sinusoid. tmpxe7fu0cj_hp_relaxed.owl lumen of hepatic sinusoid FMA:262090 uberon owl:Class UBERON:0014399 biolink:NamedThing sinusoidal space An anatomical space that is enclosed by a sinusoid. tmpxe7fu0cj_hp_relaxed.owl lumen of sinusoid|sinusoid lumen FMA:63133 uberon owl:Class HP:0009825 biolink:NamedThing Aplasia involving bones of the extremities tmpxe7fu0cj_hp_relaxed.owl Absent bones of the extremities UMLS:C4024193 doelkens 2009-02-23T05:16:44Z human_phenotype owl:Class HP:0045060 biolink:NamedThing Aplasia/hypoplasia involving bones of the extremities tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073181 owl:Class HP:0033342 biolink:NamedThing Anti-aquaporin 4 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4. tmpxe7fu0cj_hp_relaxed.owl Anti-AQP4 antibody positivity 2020-11-30 12:48:39+00:00 peter owl:Class HP:0030057 biolink:NamedThing Autoimmune antibody positivity The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022660 owl:Class HP:0025313 biolink:NamedThing Exophoria A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia. tmpxe7fu0cj_hp_relaxed.owl 2016-12-21 01:46:52+00:00 HPO:probinson owl:Class HP:0020049 biolink:NamedThing Exodeviation A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally. tmpxe7fu0cj_hp_relaxed.owl Divergent strabismus 2017-12-22 15:01:01+00:00 robinp owl:Class UBERON:0002370 biolink:NamedThing thymus Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop. tmpxe7fu0cj_hp_relaxed.owl thymus gland|thymus organ EMAPA:18768|BTO:0001374|MESH:A06.407.850|OpenCyc:Mx4rvpIympwpEbGdrcN5Y29ycA|MAT:0000080|AAO:0010548|VHOG:0000253|FMA:9607|EHDAA2:0002017|EFO:0000860|EHDAA:9119|MIAA:0000080|XAO:0000163|CALOHA:TS-1043|TAO:0001078|GAID:464|NCIT:C12433|EV:0100138|ZFA:0001078|UMLS:C0040113|MA:0000142 Illu:thymus.jpg check - a subtype of gland? not in GO. NCIT has thymus and thymus gland. EHDAA2 has ductless gland. uberon owl:Class Anatomical structure which originates as several paired thickenings on the dorsal side of the pharyngeal pouches and secretes thymosin.[AAO] A thymus develops in all vertebrates from the endodermal epithelium of certain pharyngeal pouches and from the adjacent ectodermal epithelium. In fishes, all the pouches, or the first four, contribute to thymus formation, but in tetrapods, the number is more restricted. In mammals, only the third and fourth are involved, and the contribution of the third is by far the greater.[well established][VHOG] thymic UBERON:0002368 biolink:NamedThing endocrine gland Endocrine glands are glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct.[WP, modified]. tmpxe7fu0cj_hp_relaxed.owl ductless gland|glandulae endocrinae|glandula endocrina OpenCyc:Mx4rvbkiRZwpEbGdrcN5Y29ycA|BTO:0001488|EMAPA:35999|SCTID:40818001|EHDAA2:0003098|AEO:0000098|NCIT:C12704|CALOHA:TS-1300|MESH:D004702|MA:0002563|Wikipedia:Endocrine_gland|UMLS:C0014133|GAID:335|FMA:9602 http://upload.wikimedia.org/wikipedia/commons/d/da/Illu_endocrine_system.png uberon owl:Class CL:0000064 biolink:NamedThing ciliated cell A cell that has a filiform extrusion of the cell surface. tmpxe7fu0cj_hp_relaxed.owl VHOG:0001532|XAO:0000031 cell owl:Class CL:0000003 biolink:NamedThing native cell A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment). tmpxe7fu0cj_hp_relaxed.owl cell in vivo CARO:0000013 To accommodate unicellular organisms better, 'cell in vivo' has been re-labeled 'native cell' to better represent its intended meaning - that is, that it is a cell in the context of a multicellular organism or in a natural environment. 'Native' is intended to contrast with 'in vitro', which refers to cells or other biological entities that have been intentionally placed in a controlled, non-natural setting for the purpose of study or manipulation. (MAH 1.12.12). cell owl:Class HP:0004311 biolink:NamedThing Abnormal macrophage morphology An abnormality of macrophages. tmpxe7fu0cj_hp_relaxed.owl Abnormality of histiocytes|Abnormality of macrophages UMLS:C4021661 peter 2008-02-20T03:14:00Z HP:0004310 human_phenotype owl:Class HP:0010974 biolink:NamedThing Abnormal myeloid leukocyte morphology An abnormality of myeloid leukocytes. tmpxe7fu0cj_hp_relaxed.owl Abnormality of myeloid leukocytes UMLS:C4023618 A myeloid leukocyte refers to a cell of the monocyte, granulocyte, or mast cell lineage. peter 2011-02-06T09:24:46Z human_phenotype owl:Class GO:1904348 biolink:NamedThing negative regulation of small intestine smooth muscle contraction Any process that stops, prevents or reduces the frequency, rate or extent of small intestine smooth muscle contraction. tmpxe7fu0cj_hp_relaxed.owl inhibition of small intestine smooth muscle contraction|down regulation of small intestine smooth muscle contraction|downregulation of small intestine smooth muscle contraction|down-regulation of small intestine smooth muscle contraction sl 2015-06-11T21:37:40Z biological_process owl:Class GO:1904347 biolink:NamedThing regulation of small intestine smooth muscle contraction Any process that modulates the frequency, rate or extent of small intestine smooth muscle contraction. tmpxe7fu0cj_hp_relaxed.owl sl 2015-06-11T21:37:34Z biological_process owl:Class CHEBI:30776 biolink:NamedThing hexanoic acid A C6, straight-chain saturated fatty acid. tmpxe7fu0cj_hp_relaxed.owl n-hexanoic acid|butylacetic acid|pentiformic acid|n-hexoic acid|hexanoic acid|C6:0|pentylformic acid|Hexanoate|Hexanoic acid|Pentanecarboxylic acid|1-hexanoic acid|CH3-[CH2]4-COOH|1-pentanecarboxylic acid|Hexylic acid|capronic acid|6:0|n-Caproic acid|hexoic acid|n-hexylic acid|HEXANOIC ACID|caproic acid 0 C6H12O2 InChI=1S/C6H12O2/c1-2-3-4-5-6(7)8/h2-5H2,1H3,(H,7,8) FUZZWVXGSFPDMH-UHFFFAOYSA-N 116.15830 116.08373 CCCCCC(O)=O LIPID_MAPS_instance:LMFA01010006|PDBeChem:6NA|Reaxys:773837|PMID:24357269|KNApSAcK:C00001218|PMID:1556177|PMID:10685018|MetaCyc:HEXANOATE|HMDB:HMDB0000535|Wikipedia:Hexanoic_acid|Gmelin:185066|KEGG:C01585|PMID:24924750|ECMDB:ECMDB21229|Beilstein:773837|YMDB:YMDB01424|CAS:142-62-1 CHEBI:40213|CHEBI:24571|CHEBI:5702 chebi_ontology owl:Class CHEBI:39418 biolink:NamedThing straight-chain saturated fatty acid Any saturated fatty acid lacking a side-chain. tmpxe7fu0cj_hp_relaxed.owl straight-chain saturated fatty acid|straight-chain saturated fatty acids PMID:15644336 chebi_ontology owl:Class UBERON:0002050 biolink:NamedThing embryonic structure Anatomical structure that is part of an embryo. tmpxe7fu0cj_hp_relaxed.owl embryonic structures|developing structure|embryonale Struktur|developing embryonic structure|embryonic anatomical structure GAID:407|SCTID:667009|AAO:0000138|CALOHA:TS-2110|TAO:0001105|ZFA:0001105|FMA:69067|NCIT:C13229|XAO:0003042|BILA:0000034|FBbt:00004208|UMLS:C0013948|VSAO:0000178|EFO:0000461|MESH:D004628|BTO:0000174|RETIRED_EHDAA2:0003169 uberon owl:Class Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[AAO]|Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[TAO]|Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[VSAO] in FMA embryo is_a embryonic structure CHEBI:38560 biolink:NamedThing simple protein tmpxe7fu0cj_hp_relaxed.owl simple proteins chebi_ontology owl:Class CHEBI:36080 biolink:NamedThing protein A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome. tmpxe7fu0cj_hp_relaxed.owl proteins CHEBI:13677|CHEBI:14911 chebi_ontology owl:Class HP:0007023 biolink:NamedThing Antenatal intracerebral hemorrhage Cerebral hemorrhage that occurs before birth. tmpxe7fu0cj_hp_relaxed.owl Antenatal intracerebral haemorrhage UMLS:C1837247 human_phenotype owl:Class HP:0001342 biolink:NamedThing Cerebral hemorrhage Hemorrhage into the parenchyma of the brain. tmpxe7fu0cj_hp_relaxed.owl Cerebral haemorrhage|Intracerebral haemorrhage|Intracerebral hemorrhage|Hemorrhagic stroke|Bleeding in brain MSH:D020300|MSH:D002543|UMLS:C0553692|SNOMEDCT_US:230706003|UMLS:C2937358|SNOMEDCT_US:274100004 A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself. HP:0002137 human_phenotype owl:Class HP:0010099 biolink:NamedThing Partial duplication of the 1st metatarsal A developmental defect consisting in the duplication of part of the first metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the 1st long bone of foot UMLS:C4024049 doelkens 2009-05-29T12:20:12Z human_phenotype owl:Class HP:0010101 biolink:NamedThing Partial duplication of the phalanges of the hallux tmpxe7fu0cj_hp_relaxed.owl Partial duplication of big toe|partial duplication of hallux UMLS:C1855005 doelkens 2009-05-29T12:22:12Z HP:0004678 human_phenotype owl:Class GO:0002407 biolink:NamedThing dendritic cell chemotaxis The movement of a dendritic cell in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0036336 biolink:NamedThing dendritic cell migration The movement of a dendritic cell within or between different tissues and organs of the body. tmpxe7fu0cj_hp_relaxed.owl bf 2012-09-05T10:24:46Z biological_process owl:Class HP:0032006 biolink:NamedThing Lip tremor An unintentional, oscillating to-and-fro muscle movement affecting the lip. tmpxe7fu0cj_hp_relaxed.owl 2018-07-17 13:06:59+00:00 peter owl:Class HP:0030188 biolink:NamedThing Tremor by anatomical site Tremor classified by the affected body part. tmpxe7fu0cj_hp_relaxed.owl Tremor of a body part UMLS:C4022593 owl:Class UBERON:0012466 biolink:NamedThing extraembryonic cavity tmpxe7fu0cj_hp_relaxed.owl extraembryonic cavities VHOG:0000767|EHDAA2:0000472|EMAPA:16054 uberon owl:Class UBERON:0035118 biolink:NamedThing material entity in digestive tract Any material entity that is located in the digestive tract. This includes undigested food and liquid as well as unexcreted waste products. It also includes other entities such as ingested stones used to aid digestion. Any microbial cells or cell populations are also included. tmpxe7fu0cj_hp_relaxed.owl digestive tract contents|ingested material entity Note that we treat any material entity that is ingested as an anatomical structure by defintion, although this may be expanding the CARO usage somewhat uberon owl:Class UBERON:0000061 biolink:NamedThing anatomical structure Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. tmpxe7fu0cj_hp_relaxed.owl biological structure|connected biological structure http://dbpedia.org/ontology/AnatomicalStructure|TAO:0000037|FMA:67135|MESH:D000825|MA:0003000|BILA:0000003|TGMA:0001823|SCTID:362889002|ZFA:0000037|CARO:0000003|EHDAA2:0003003|FBbt:00007001|XAO:0003000|GAID:781|AEO:0000003|HAO:0000003|EMAPA:0|AAO:0010825|FMA:305751|VHOG:0001759 uberon owl:Class GO:0001754 biolink:NamedThing eye photoreceptor cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a photoreceptor cell, as found in the eye, the primary visual organ of most organisms. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0030154 biolink:NamedThing cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Cellular_differentiation biological_process owl:Class UBERON:0035606 biolink:NamedThing cartilage of external acoustic meatus tmpxe7fu0cj_hp_relaxed.owl cartilage of acoustic meatus|cartilago meatus acustici|cartilage of auditory canal|external acoustic meatus cartilage FMA:61298 uberon owl:Class UBERON:0002427 biolink:NamedThing arm skin A zone of skin that is part of an arm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl skin of arm|brachial region skin MA:0000596|EMAPA:37350|UMLS:C0222204|NCIT:C52754 uberon owl:Class UBERON:0003531 biolink:NamedThing forelimb skin A zone of skin that is part of a forelimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl upper limb skin|skin of fore limb|anteriormost limb skin|fore limb skin|skin of upper limb|skin of forelimb|wing skin EMAPA:32612|NCIT:C12296|MA:0000617|FMA:23101|UMLS:C0222212 TODO - check free limb vs pectoral complex uberon owl:Class HP:0010420 biolink:NamedThing Triangular shaped distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Triangular shaped outermost 2nd toe bone UMLS:C4023836 doelkens 2009-07-16T12:44:41Z human_phenotype owl:Class HP:0010354 biolink:NamedThing Triangular shaped phalanges of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Triangular shaped bone of second toe|Triangular shaped bone of 2nd toe UMLS:C4023886 doelkens 2009-07-16T11:45:34Z human_phenotype owl:Class UBERON:0010417 biolink:NamedThing lymph node T cell domain The paracortex and interfollicular cortex of the lymph node in which T lymphocytes home to survey dendritic cells. tmpxe7fu0cj_hp_relaxed.owl lymph node deep cortex|lymph node T zone|T cell zone of lymph node|lymph node T-cell domain|T zone of lymph node|lymph node T cell dependent paracortex MA:0002852|EMAPA:37663 uberon owl:Class UBERON:0010393 biolink:NamedThing T cell domain tmpxe7fu0cj_hp_relaxed.owl TODO - check uberon owl:Class GO:1901890 biolink:NamedThing positive regulation of cell junction assembly Any process that activates or increases the frequency, rate or extent of cell junction assembly. tmpxe7fu0cj_hp_relaxed.owl up-regulation of cell junction assembly|activation of cell junction assembly|up regulation of cell junction assembly|upregulation of cell junction assembly tb 2013-02-06T19:40:46Z biological_process owl:Class GO:0044089 biolink:NamedThing positive regulation of cellular component biogenesis Any process that activates or increases the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0010276 biolink:NamedThing space in vertebral column Any anatomical space that is part of a vertebral column. tmpxe7fu0cj_hp_relaxed.owl vertebral column opening|vertebral conduit AAO:0000700 uberon owl:Class HP:0011297 biolink:NamedThing Abnormal digit morphology A morphological abnormality of a digit, i.e., of a finger or toe. tmpxe7fu0cj_hp_relaxed.owl Digital anomalies|Abnormality of digit|Abnormality of fingers or toes UMLS:C3550704 peter 2012-02-11T07:16:22Z human_phenotype owl:Class HP:0009462 biolink:NamedThing Radial deviation of the 3rd finger Displacement of the 3rd finger towards the radial side (i.e., towards the thumb). tmpxe7fu0cj_hp_relaxed.owl Inward turned middle finger UMLS:C4024345 doelkens 2009-01-15T09:35:10Z human_phenotype owl:Class HP:0009466 biolink:NamedThing Radial deviation of finger Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. tmpxe7fu0cj_hp_relaxed.owl Radially deviated fingers|Radially deviated phalanges UMLS:C1836189 doelkens 2009-01-15T09:40:27Z HP:0001157|HP:0001213|HP:0001503 human_phenotype owl:Class HP:0025134 biolink:NamedThing Increased serum estradiol An elevation above normal limits of the concentration of estradiol in the circulation. tmpxe7fu0cj_hp_relaxed.owl Increased estradiol level|Increased serum oestradiol 2016-11-27 14:09:28+00:00 HPO:probinson owl:Class HP:0025133 biolink:NamedThing Abnormal serum estradiol A deviation from normal concentrations of estradiol in the circulation. tmpxe7fu0cj_hp_relaxed.owl 2016-11-27 13:52:20+00:00 Estradiol is the most biologically prevalent and active compound of a class of steroids called estrogens HPO:probinson owl:Class GO:0120034 biolink:NamedThing positive regulation of plasma membrane bounded cell projection assembly Any process that activates or increases the frequency, rate or extent of plasma membrane bounded cell projection assembly. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/13298 krc 2017-04-26T04:34:45Z biological_process owl:Class GO:0120032 biolink:NamedThing regulation of plasma membrane bounded cell projection assembly Any process that modulates the rate, frequency, or extent of plasma membrane bounded cell projection assembly. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/13298 krc 2017-04-26T04:27:04Z biological_process owl:Class UBERON:0023879 biolink:NamedThing neural system A set of neural structures that subserve a specific function, e.g., visual system. tmpxe7fu0cj_hp_relaxed.owl neural system NLXANAT:090802 this class was inherited from NIFSTD as part of the replacement of NIFSTD with Uberon. It may be obsoleted in the future uberon owl:Class UBERON:0006234 biolink:NamedThing femur pre-cartilage condensation A femur endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl femoral pre-cartilage condensation VHOG:0000951|EHDAA2:0000508|EMAPA:17502 uberon owl:Class UBERON:0000095 biolink:NamedThing cardiac neural crest Portion of neural crest that develops from the dorsal neural tube. It overlaps the vagal neural crest and migrates to populate the pharyngeal arches 3, 4 and 6 (producing structures in the head) and to the heart, forming connective tissue that separates the great vessels of the heart. [Wikipedia]. tmpxe7fu0cj_hp_relaxed.owl cardiac neural crest complex|complexus cristae neuralis cardiacus XAO:0004190|ZFA:0001648|Wikipedia:Cardiac_neural_crest|TAO:0002173 cjm 2009-07-30T07:57:38Z uberon owl:Class A subpopulation of the cephalic neural crest that emerges from the otic level to the anterior limit of somite 4. It migrates to the heart and is essential for the septation of the outflow track[DOI:10.1242/dev.091751]. ZFA treats this as a subtype of NC. UBERON:0005291 biolink:NamedThing embryonic tissue A portion of tissue that is part of an embryo. tmpxe7fu0cj_hp_relaxed.owl portion of embryonic tissue|developing tissue CALOHA:TS-2100 uberon owl:Class HP:0004442 biolink:NamedThing Sagittal craniosynostosis A kind of craniosynostosis affecting the sagittal suture. tmpxe7fu0cj_hp_relaxed.owl Midline skull joint closes early|Early closure of midline skull joint|Sagittal suture synostosis|Craniosynostosis, sagittal|Craniosynostosis, sagittal suture UMLS:C0432123|SNOMEDCT_US:109418001 peter 2008-03-18T10:01:00Z owl:Class HP:0001363 biolink:NamedThing Craniosynostosis Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. tmpxe7fu0cj_hp_relaxed.owl Early fusion of cranial sutures|Premature fontanel closure|Cranial suture synostosis|Premature suture closure|Deformity of the skull|Craniosyostosis|Premature closure of cranial sutures|Craniostenosis UMLS:C0010278|MSH:D003398|UMLS:C0235942|SNOMEDCT_US:57219006|Fyler:4336 Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth. HP:0005457|HP:0008492|HP:0001365|HP:0005467|HP:0004494|HP:0005448 human_phenotype owl:Class HP:0010363 biolink:NamedThing Osteolytic defects of the phalanges of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021825 doelkens 2009-07-16T11:51:17Z human_phenotype owl:Class HP:0010177 biolink:NamedThing Osteolytic defects of the phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023985 doelkens 2009-05-29T01:39:26Z human_phenotype owl:Class UBERON:0010885 biolink:NamedThing hindlimb cartilage element A cartilaginous condensation that has the potential to develop into a hindlimb bone. tmpxe7fu0cj_hp_relaxed.owl hindlimb cartilage condensation EMAPA:32632 uberon owl:Class UBERON:0010881 biolink:NamedThing limb cartilage element A skeletal element that is part of a limb and composed of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0011772 biolink:NamedThing lower jaw opening An anatomical space that is part of a bone of lower jaw. tmpxe7fu0cj_hp_relaxed.owl AAO:0000273 uberon owl:Class UBERON:0000464 biolink:NamedThing anatomical space Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures. tmpxe7fu0cj_hp_relaxed.owl space|lumen|anatomical spaces|lumen space ZFA:0001643|VHOG:0001728|XAO:0003190|UMLS:C0524461|HAO:0000005|EHDAA2:0003005|FBbt:00007017|TGMA:0001825|BILA:0000005|TAO:0001668|AEO:0000005|NCIT:C94478|AAO:0010110|FMA:5897|CARO:0000005 uberon owl:Class CHEBI:22314 biolink:NamedThing alkali metal atom tmpxe7fu0cj_hp_relaxed.owl metaux alcalins|alkali metal|metal alcalino|metal alcalin|metales alcalinos|Alkalimetall|alkali metals|Alkalimetalle chebi_ontology owl:Class CHEBI:33318 biolink:NamedThing main group element atom An atom belonging to one of the main groups (found in the s- and p- blocks) of the periodic table. tmpxe7fu0cj_hp_relaxed.owl main group elements|Hauptgruppenelemente|main group element|Hauptgruppenelement chebi_ontology owl:Class HP:0002066 biolink:NamedThing Gait ataxia A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. tmpxe7fu0cj_hp_relaxed.owl Inability to coordinate movements when walking|Ataxic gait|Ataxia of gait MSH:D020234|SNOMEDCT_US:25136009|UMLS:C0751837 HP:0002379 owl:Class HP:0001251 biolink:NamedThing Ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). tmpxe7fu0cj_hp_relaxed.owl Cerebellar ataxia UMLS:C0007758|MSH:D002524|SNOMEDCT_US:85102008 Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. HP:0007050|HP:0007157|HP:0002513|HP:0001253 owl:Class HP:0006595 biolink:NamedThing Scapulohumeral synostosis Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint. tmpxe7fu0cj_hp_relaxed.owl Synostosis of shoulder joint|Humero-scapulo synostosis|Humeroscapular synostosis|Fusion of shoulder blade to long bone in upper arm UMLS:C1865362 HP:0010792 human_phenotype owl:Class HP:0003063 biolink:NamedThing Abnormality of the humerus An abnormality of the humerus (i.e., upper arm bone). tmpxe7fu0cj_hp_relaxed.owl Abnormality of the humeri UMLS:C4021742 HP:0002988 human_phenotype owl:Class HP:0410052 biolink:NamedThing Increased level of allantoin in serum An increase in the level of allantoin in the serum. tmpxe7fu0cj_hp_relaxed.owl 2018-01-27 01:42:36+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0004364 biolink:NamedThing Abnormal circulating nitrogen compound concentration Any deviation from the normal concentration of a nitrogen compound in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025336 Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine. peter 2008-03-17T04:51:00Z human_phenotype owl:Class UBERON:0000045 biolink:NamedThing ganglion A biological tissue mass, most commonly a mass of nerve cell bodies. tmpxe7fu0cj_hp_relaxed.owl neural ganglion|ganglia EHDAA2:0003135|EHDAA:2897|AAO:0010426|TAO:0000190|MAT:0000343|FBbt:00005137|EV:0100372|NCIT:C12719|XAO:0000209|ZFA:0000190|CALOHA:TS-0397|NLXANAT:100302|MIAA:0000207|AEO:0000135|BTO:0000497|TGMA:0001016|EHDAA:4662|EHDAA:5621|MAT:0000207|EMAPA:32846|BAMS:G|UMLS:C0017067|MIAA:0000343|EFO:0000899|MESH:D005724|EHDAA:918|VHOG:0000156|FMA:5884|WBbt:0005189|MA:0002406|Wikipedia:Ganglion TODO - check vert vs invert. Other species: Any of a number of aggregations of neurons, glial cells and their processes, surrounded by a glial cell and connective tissue sheath (plural: ganglia). // Subdivision of neural tree (organ) which primarily consists of cell bodies of neurons located outside the neuraxis (brain and spinal cord); together with a nucleus and its associated nerve, it constitutes a neural tree (organ). Examples: spinal ganglion, trigeminal ganglion, superior cervical ganglion, celiac ganglion, inferior hypogastric (pelvic) ganglion. // a cluster of nerve cells and associated glial cells (nuclear location) // Portion of tissue that contains cell bodies of neurons and is located outside the central nervous system. uberon owl:Class A ganglion is a cluster of neurons. It is part of a nervous system. It may include glial cells. The neurons are arranged in a specific constellation: neuronal somata are concentrated at the surface, thus forming a cell cortex, and neurites are concentrated in the centre of the ganglion to form the neuropil. A ganglion is a distinct unit but several ganglia may be anterio-posteriorly joined by connectives or transversally by commissures|Portion of tissue that contains cell bodies of neurons and is located outside the central nervous system.[AAO]|Subdivision of nervous system which primarily consists of cell bodies of neurons located outside the neuraxis (brain and spinal cord. Examples: spinal ganglion, trigeminal ganglion, superior cervical ganglion, celiac ganglion, inferior hypogastric (pelvic) ganglion (adapted from Foundational Model of Anatomy)[NLXANAT:100302].|Structures containing a collection of nerve cell bodies. (Source: BioGlossary, www.Biology-Text.com)[TAO] Cranial sensory placodes are focused areas of the head ectoderm of vertebrates that contribute to the development of the cranial sense organs and their associated ganglia. Placodes have long been considered a key character of vertebrates, and their evolution is proposed to have been essential for the evolution of an active predatory lifestyle by early vertebrates.[well established][VHOG] ganglionic UBERON:0010001 biolink:NamedThing cell cluster organ A small cluster of cells of various types which form a discrete structure, largely delimited by a morphological boundary and whose components work together to make the whole structure capable of a specific function. tmpxe7fu0cj_hp_relaxed.owl CARO:0010001|FBbt:00007229 Examples include arthropod sensilla. uberon owl:Class MAXO:0010208 biolink:NamedThing neck ultrasonography The use of ultrasound to produce images of structures in the neck. tmpxe7fu0cj_hp_relaxed.owl neck medical ultrasound|neck sonography|sonography of neck|neck diagnostic sonography|neck ultrasound procedure|ultrasonography of neck|neck ultrasound imaging procedure|neck ultrasound examination 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-2979 owl:Class MAXO:0000072 biolink:NamedThing ultrasonography procedure The use of ultrasound to produce images of structures in the human body. tmpxe7fu0cj_hp_relaxed.owl medical sonography|sonography|ultrasound procedure|diagnostic ultrasound 2019-01-15 19:32:35+00:00 ERO:0001325|NCIT:C17230 owl:Class PR:000050184 biolink:NamedThing Ig kappa light chain protein (human) An Ig kappa light chain protein that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl hIgKappa Category=organism-gene. Note: The kappa light chain locus is described by https://www.genenames.org/cgi-bin/genefamilies/set/351. protein owl:Class PR:000029067 biolink:NamedThing Homo sapiens protein A protein that is encoded in the genome of Homo sapiens. tmpxe7fu0cj_hp_relaxed.owl human protein protein owl:Class CL:0000815 biolink:NamedThing regulatory T cell A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release. tmpxe7fu0cj_hp_relaxed.owl suppressor T-cell|regulatory T lymphocyte|suppressor T lymphocyte|suppressor T cell|regulatory T-lymphocyte|Treg|regulatory T-cell|suppressor T-lymphocyte FMA:84070|BTO:0004520 This cell type may express FoxP3 and CD25 and secretes IL-10 and TGF-beta. cell owl:Class CL:0002419 biolink:NamedThing mature T cell A T cell that expresses a T cell receptor complex and has completed T cell selection. tmpxe7fu0cj_hp_relaxed.owl CD3e-positive T cell|CD3epsilon T cell|mature T-cell tmeehan 2010-10-12T01:56:15Z cell owl:Class GO:0007565 biolink:NamedThing female pregnancy The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. tmpxe7fu0cj_hp_relaxed.owl carrying of young|gestation Wikipedia:Gestation biological_process owl:Class GO:0044703 biolink:NamedThing multi-organism reproductive process A biological process that directly contributes to the process of producing new individuals, involving another organism. tmpxe7fu0cj_hp_relaxed.owl jl 2012-09-19T15:56:30Z biological_process owl:Class CHEBI:24836 biolink:NamedThing inorganic oxide tmpxe7fu0cj_hp_relaxed.owl inorganic oxides chebi_ontology owl:Class CHEBI:25741 biolink:NamedThing oxide An oxide is a chemical compound of oxygen with other chemical elements. tmpxe7fu0cj_hp_relaxed.owl oxides|oxide chebi_ontology owl:Class GO:0006073 biolink:NamedThing cellular glucan metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0044042 biolink:NamedThing glucan metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0002401 biolink:NamedThing visceral pleura The inner serous membrane of the pulmonary pleural. The visceral pleura lines the lungs. tmpxe7fu0cj_hp_relaxed.owl lung pleura|pulmonary visceral pleura|pulmonary pleura|pleura visceralis|pleura pulmonalis|pleura visceralis (pulmonalis)|lung mesothelium MA:0002489|UMLS:C0225776|OpenCyc:Mx4rwNFqppwpEbGdrcN5Y29ycA|EMAPA:16777|EHDAA2:0002205|NCIT:C33881|VHOG:0001496|FMA:9734|SCTID:361997008 uberon owl:Class Each lung is invested by an exceedingly delicate serous membrane, the pleura, which is arranged in the form of a closed invaginated sac. A portion of the serous membrane covers the surface of the lung and dips into the fissures between its lobes; it is called the pulmonary pleura (or visceral pleura). The visceral pleura is attached directly to the lungs[Wikipedia:Visceral_pleura]. FMA treats this as part of the lungs UBERON:0000077 biolink:NamedThing mixed endoderm/mesoderm-derived structure An anatomical structure that develops from the endoderm and the mesoderm. tmpxe7fu0cj_hp_relaxed.owl Grouping term for query purposes. Notes that the developmental relationships are being refined such that most structures should develop in whole from at most one layer, but may have contributions from multiple uberon owl:Class GO:0051354 biolink:NamedThing negative regulation of oxidoreductase activity Any process that stops or reduces the rate of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. tmpxe7fu0cj_hp_relaxed.owl down-regulation of oxidoreductase activity|down regulation of oxidoreductase activity|downregulation of oxidoreductase activity|oxidoreductase inhibitor|inhibition of oxidoreductase activity biological_process owl:Class GO:0051341 biolink:NamedThing regulation of oxidoreductase activity Any process that modulates the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. tmpxe7fu0cj_hp_relaxed.owl oxidoreductase regulator biological_process owl:Class HP:0030517 biolink:NamedThing Heteronymous hemianopia tmpxe7fu0cj_hp_relaxed.owl Heteronymous hemianopsia SNOMEDCT_US:344104004|SNOMEDCT_US:345121001|UMLS:C0271207 owl:Class HP:0012377 biolink:NamedThing Hemianopia Partial or complete loss of vision in one half of the visual field of one or both eyes. tmpxe7fu0cj_hp_relaxed.owl Hemianopsia SNOMEDCT_US:77674003|UMLS:C0018979|MSH:D006423 peter 2013-10-13T07:55:21Z human_phenotype owl:Class HP:0003738 biolink:NamedThing Exercise-induced myalgia The occurrence of an unusually high amount of muscle pain following exercise. tmpxe7fu0cj_hp_relaxed.owl Muscle pain with exercise|Muscle pain, exercise-induced|Muscle pain on exercise|Exercise-induced muscle pain UMLS:C1850830 human_phenotype owl:Class HP:0003326 biolink:NamedThing Myalgia Pain in muscle. tmpxe7fu0cj_hp_relaxed.owl Muscle pain|Myalgias|Muscle ache UMLS:C0231528|SNOMEDCT_US:68962001|MSH:D063806 HP:0003718 human_phenotype owl:Class HP:0004331 biolink:NamedThing Decreased skull ossification A reduction in the magnitude or amount of ossification of the skull. tmpxe7fu0cj_hp_relaxed.owl Poorly ossified skull|Deficient skull ossification|Decreased calcification of skull|Decreased bone formation of skull|Poorly ossified skull bones|Decreased mineralization of skull|Hypoossification of skull|Poorly mineralized skull|Ossification defect of skull UMLS:C0432073|SNOMEDCT_US:253980008|UMLS:C4280533 peter 2008-02-28T11:54:00Z HP:0003780 human_phenotype owl:Class HP:0002703 biolink:NamedThing Abnormality of skull ossification An abnormality of the process of ossification of the skull. tmpxe7fu0cj_hp_relaxed.owl Abnormality of bone mineralization of skull|Abnormality of bone formation of calvarium|Abnormality of skull bone formation|Abnormality of ossification of cranium|Abnormality of bone mineralization of calvarium|Abnormality of bone calcification of calvarium|Abnormality of ossification of calvarium|Abnormality of bone mineralization of cranium|Abnormality of bone calcification of cranium|Abnormality of bone calcification of skull|Abnormality of bone formation of cranium UMLS:C4280550|UMLS:C4025686|UMLS:C4280552|UMLS:C4280553|UMLS:C4280551 The bones of the skull derive directly from mesenchyme cells by intramembranous ossification. peter 2008-02-28T11:53:00Z human_phenotype owl:Class GO:0071670 biolink:NamedThing smooth muscle cell chemotaxis The directed movement of a smooth muscle cell in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl mah 2010-02-16T01:32:59Z biological_process owl:Class GO:0014909 biolink:NamedThing smooth muscle cell migration The orderly movement of a smooth muscle cell from one site to another, often during the development of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:35284 biolink:NamedThing ammonium betaine Any neutral molecule having charge-separated forms with a quaternary ammonium atom which bears no hydrogen atoms and that is not adjacent to the anionic atom. tmpxe7fu0cj_hp_relaxed.owl ammonium betaines chebi_ontology owl:Class CHEBI:35281 biolink:NamedThing onium betaine Neutral molecules having charge-separated forms with an onium atom which bears no hydrogen atoms and that is not adjacent to the anionic atom. tmpxe7fu0cj_hp_relaxed.owl betaines|onium betaines chebi_ontology owl:Class GO:0002709 biolink:NamedThing regulation of T cell mediated immunity Any process that modulates the frequency, rate, or extent of T cell mediated immunity. tmpxe7fu0cj_hp_relaxed.owl regulation of T lymphocyte mediated immunity|regulation of T-cell mediated immunity|regulation of T-lymphocyte mediated immunity biological_process owl:Class GO:0002706 biolink:NamedThing regulation of lymphocyte mediated immunity Any process that modulates the frequency, rate, or extent of lymphocyte mediated immunity. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0000989 biolink:NamedThing Pruritus Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. tmpxe7fu0cj_hp_relaxed.owl Itching|Itchy skin|Skin itching UMLS:C0033774|SNOMEDCT_US:424492005|SNOMEDCT_US:418363000|MSH:D011537|SNOMEDCT_US:279333002|SNOMEDCT_US:418290006 owl:Class HP:0011122 biolink:NamedThing Abnormality of skin physiology Any abnormality of the physiological function of the skin. tmpxe7fu0cj_hp_relaxed.owl Abnormality of skin physiology UMLS:C4023527 peter 2011-06-12T10:05:14Z human_phenotype owl:Class HP:0001301 biolink:NamedThing Chronic sensorineural polyneuropathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025794 human_phenotype owl:Class HP:0009830 biolink:NamedThing Peripheral neuropathy Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. tmpxe7fu0cj_hp_relaxed.owl Peripheral neuritis|Neuropathy|Peripheral nerve damage SNOMEDCT_US:42658009|MSH:D010523|SNOMEDCT_US:386033004|UMLS:C0031117|UMLS:C0442874|SNOMEDCT_US:302226006 Terms from this subhierarchy should be used to describe morphological abnormalities seen in peripheral neuropathy. Functional deficits should be coded separately. peter 2009-03-01T07:49:18Z HP:0007355|HP:0007088|HP:0003407|HP:0007235|HP:0003157 owl:Class HP:0410217 biolink:NamedThing Reduced blood 5-methyltetrahydrofolate level A decreased concentration of 5-methyltetrahydrofolate in the blood. tmpxe7fu0cj_hp_relaxed.owl Reduced serum methylfolate Level 2018-09-12 00:51:49+00:00 owl:Class HP:0410216 biolink:NamedThing Abnormal blood 5-methyltetrahydrofolate level An abnormal concentration of 5-methyltetrahydrofolate in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal serum methylfolate Level 2018-09-12 00:50:35+00:00 owl:Class UBERON:0014703 biolink:NamedThing anal membrane ectodermal component A unilaminar epithelium that develops_from a ectoderm and is part of a anal region. tmpxe7fu0cj_hp_relaxed.owl EMAPA:25040|EHDAA2:0004019 uberon owl:Class UBERON:0010371 biolink:NamedThing ecto-epithelium Epithelium composed of cells that develops from the ectoderm[FMA,modified]. tmpxe7fu0cj_hp_relaxed.owl ectoderm-derived epithelium FMA:69064 uberon owl:Class HP:0100141 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the outermost bone of the 3rd toe UMLS:C4022280 doelkens 2010-06-24T10:23:44Z human_phenotype owl:Class HP:0100091 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the outermost bone of the 3rd toe UMLS:C4022330 doelkens 2010-06-24T10:02:07Z human_phenotype owl:Class HP:0033466 biolink:NamedThing Weak grip Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:40:44+00:00 peter owl:Class HP:0030237 biolink:NamedThing Hand muscle weakness Reduced strength of the musculature of the hand. tmpxe7fu0cj_hp_relaxed.owl Hand muscle weakness UMLS:C0239831|SNOMEDCT_US:298283006 owl:Class HP:0033377 biolink:NamedThing Increased airway neuroendocrine cells Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs). tmpxe7fu0cj_hp_relaxed.owl 2020-12-23 14:03:04+00:00 The bronchial mucosa also contains a small cluster of neuroendocrine cells, also known as Kulchitsky cells. They have neurosecretory type granules and can secrete several factors. This includes catecholamine and polypeptide hormones, such as serotonin, calcitonin, and gastrin-releasing factors (bombesin). Like brush cells, these neuroendocrine cells make up only a small portion of mucosal epithelium, around 3%. Pulmonary neuroendocrine cells (NECs), which produce bioactive products, including bombesin-like peptide and serotonin, are specialized epithelial cells scattered throughout the conducting airways and as innervated clusters (neuroepithelial bodies [NEBs]). In the fetus, NECs are most abundant in the distal airways where they promote branching morphogenesis, epithelial and mesenchymal cell proliferation, and surfactant secretion. Postnatally, NECs function as oxygen chemosensors and degranulate in response to hypoxia. Although NECs decline rapidly in number after the neonatal period, NEC hyperplasia has been described in a number of conditions or disorders, including bronchopulmonary dysplasia, sudden infant death syndrome, pulmonary hypertension, cystic fibrosis, and mechanical ventilation. peter owl:Class HP:0025426 biolink:NamedThing Abnormal bronchus morphology Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the bronchi 2017-04-23 12:50:43+00:00 HPO:probinson HP:0002109 owl:Class HP:0004689 biolink:NamedThing Short fourth metatarsal Short fourth metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Short fourth metatarsus|Short 4th long bone of foot|Short fourth metatarsals|Bilateral fourth metatarsal shortening UMLS:C1848514 human_phenotype owl:Class HP:0010743 biolink:NamedThing Short metatarsal Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. tmpxe7fu0cj_hp_relaxed.owl Short metatarsals|Short metatarsal bones|Shortened metatarsals|Short long bone of foot|Hypoplastic metatarsals|Hypoplasia of the metatarsal bones|Short metatarsal bone UMLS:C1849020 This is a subjective assessment and one generally compares the position of the MTP joint to that of the contralateral digit or the putatively shortened ray in proportion to the other rays. The affected digits should be specified. doelkens 2010-04-22T04:30:18Z HP:0005754|HP:0001865|HP:0004706|HP:0001779|HP:0003092 human_phenotype owl:Class GO:0045598 biolink:NamedThing regulation of fat cell differentiation Any process that modulates the frequency, rate or extent of adipocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of adipocyte cell differentiation|regulation of adipocyte differentiation biological_process owl:Class HP:0000720 biolink:NamedThing Mood swings An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels. tmpxe7fu0cj_hp_relaxed.owl Mood swings UMLS:C0085633|SNOMEDCT_US:18963009 human_phenotype owl:Class HP:0100851 biolink:NamedThing Abnormal emotion/affect behavior An abnormality of emotional behaviour. tmpxe7fu0cj_hp_relaxed.owl Abnormal emotion/affect behaviour UMLS:C4020949 doelkens 2011-06-23T11:07:13Z owl:Class HP:0002575 biolink:NamedThing Tracheoesophageal fistula An abnormal connection (fistula) between the esophagus and the trachea. tmpxe7fu0cj_hp_relaxed.owl Abnormal connection between trachea and oesophagus|Abnormal connection between trachea and esophagus UMLS:C0040588|MEDDRA:10044310|MSH:D014138|Fyler:4202|SNOMEDCT_US:95435007 human_phenotype owl:Class HP:0002778 biolink:NamedThing Abnormal tracheal morphology A structural anomaly of the trachea. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the trachea|Tracheal disease|Abnormal trachea morphology UMLS:C4025678|MSH:D014133|UMLS:C0040580|SNOMEDCT_US:47125007 owl:Class HP:0500088 biolink:NamedThing Foveal depigmentation Loss of pigment in the fovea centralis. tmpxe7fu0cj_hp_relaxed.owl 2018-03-20 20:30:24+00:00 owl:Class HP:0012643 biolink:NamedThing Foveal hypopigmentation Decreased amount of pigmentation in the fovea centralis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022807 peter 2014-01-22T09:25:34Z human_phenotype owl:Class HP:0001773 biolink:NamedThing Short foot A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). tmpxe7fu0cj_hp_relaxed.owl Short foot|Small feet|Hypoplastic feet|Short feet UMLS:C1848673 HP:0001764|HP:0001778|HP:0001766|HP:0008135 human_phenotype owl:Class HP:0006494 biolink:NamedThing Aplasia/Hypoplasia involving bones of the feet tmpxe7fu0cj_hp_relaxed.owl Absent/small foot bones|Absent/underdeveloped foot bones UMLS:C4025036 peter 2008-03-28T06:08:00Z human_phenotype owl:Class GO:2000145 biolink:NamedThing regulation of cell motility Any process that modulates the frequency, rate or extent of cell motility. tmpxe7fu0cj_hp_relaxed.owl regulation of movement of a cell|regulation of cell locomotion|regulation of cell movement mah 2010-10-01T09:41:21Z biological_process owl:Class GO:0040012 biolink:NamedThing regulation of locomotion Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0003865 biolink:NamedThing Bowed humerus A bending or abnormal curvature of the humerus. tmpxe7fu0cj_hp_relaxed.owl Humeral bowing|Bowed long bone in upper arm|Bowing of the humerus UMLS:C1859460 human_phenotype owl:Class HP:0006488 biolink:NamedThing Bowing of the arm A bending or abnormal curvature affecting a long bone of the arm. tmpxe7fu0cj_hp_relaxed.owl Bowing of the arm|Bending of the arm UMLS:C0426863 peter 2008-03-28T05:57:00Z human_phenotype owl:Class HP:0002678 biolink:NamedThing Skull asymmetry tmpxe7fu0cj_hp_relaxed.owl Skull asymmetry|Asymmetry of skull|Unequal skull shape|Uneven skull shape|Malformation of skull shape|Abnormality of skull shape UMLS:C4280563|UMLS:C0424690|SNOMEDCT_US:248372000|UMLS:C4280562 owl:Class HP:0002648 biolink:NamedThing Abnormality of calvarial morphology The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. tmpxe7fu0cj_hp_relaxed.owl Abnormality of skull bone morphology|Abnormally shaped skull|Abnormality of the shape of cranium|Abnormality of cranial bone morphology|Abnormality of the shape of skull bones|Abnormality of the shape of calvarium|Abnormal cranium morphology UMLS:C4025692|UMLS:C4280260 human_phenotype owl:Class HP:0010375 biolink:NamedThing Osteolytic defects of the phalanges of the 4th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023873 doelkens 2009-07-16T11:51:46Z human_phenotype owl:Class HP:0100648 biolink:NamedThing Neoplasm of the tongue A tumor (abnormal growth of tissue) of the tongue. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:126778001|NCIT:C3262|UMLS:C0040411|MSH:D014062 doelkens 2010-12-29T06:14:32Z human_phenotype owl:Class HP:0000157 biolink:NamedThing Abnormality of the tongue Any abnormality of the tongue. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the tongue|Lingual abnormality|Tongue abnormality|Glossal abnormality|Abnormal tongue UMLS:C0878638 human_phenotype owl:Class HP:0008507 biolink:NamedThing Static ophthalmoparesis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024663 human_phenotype owl:Class GO:0035306 biolink:NamedThing positive regulation of dephosphorylation Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a molecule. tmpxe7fu0cj_hp_relaxed.owl up-regulation of dephosphorylation|activation of dephosphorylation|up regulation of dephosphorylation|upregulation of dephosphorylation|stimulation of dephosphorylation biological_process owl:Class GO:0035303 biolink:NamedThing regulation of dephosphorylation Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0008436 biolink:NamedThing Absent/hypoplastic coccyx tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped tailbone|Absent/small tailbone UMLS:C1856644 human_phenotype owl:Class HP:0008517 biolink:NamedThing Aplasia/Hypoplasia of the sacrum Aplasia or developmental hypoplasia of the sacral bone. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped sacrum|Absent/small sacrum UMLS:C4024660 peter 2008-04-04T02:32:00Z human_phenotype owl:Class HP:0040284 biolink:NamedThing Very rare Present in 1% to 4% of the cases. tmpxe7fu0cj_hp_relaxed.owl Very rare (<4-1%)|Very rare (<4-1%) ORPHA:453314 ORCID:0000-0002-5316-1399 owl:Class HP:0040279 biolink:NamedThing Frequency Class to represent frequency of phenotypic abnormalities within a patient cohort. tmpxe7fu0cj_hp_relaxed.owl Aligned with Orphanet ORCID:0000-0002-5316-1399 owl:Class CHEBI:76967 biolink:NamedThing human xenobiotic metabolite Any human metabolite produced by metabolism of a xenobiotic compound in humans. tmpxe7fu0cj_hp_relaxed.owl human xenobiotic metabolites chebi_ontology owl:Class CHEBI:77746 biolink:NamedThing human metabolite Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens). tmpxe7fu0cj_hp_relaxed.owl Homo sapiens metabolite|H. sapiens metabolite|H. sapiens metabolites|Homo sapiens metabolites CHEBI:77123|CHEBI:75770 chebi_ontology owl:Class GO:1903565 biolink:NamedThing negative regulation of protein localization to cilium Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cilium. tmpxe7fu0cj_hp_relaxed.owl down-regulation of protein localization to cilium|down regulation of protein localization to cilium|inhibition of protein localization to cilium|downregulation of protein localization to cilium krc 2014-10-24T20:58:20Z biological_process owl:Class GO:1903564 biolink:NamedThing regulation of protein localization to cilium Any process that modulates the frequency, rate or extent of protein localization to cilium. tmpxe7fu0cj_hp_relaxed.owl krc 2014-10-24T20:58:11Z biological_process owl:Class CL:1000412 biolink:NamedThing endothelial cell of arteriole An endothelial cell that is part of the arteriole. tmpxe7fu0cj_hp_relaxed.owl KUPO:0001097|FMA:67760 cell owl:Class CL:0000115 biolink:NamedThing endothelial cell An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm. tmpxe7fu0cj_hp_relaxed.owl endotheliocyte CALOHA:TS-0278|FMA:66772|BTO:0001176 From FMA: 9.07.2001: Endothelial cell has always been classified as a kind of epithelial cell, specifically a squamous cell but that is not true. First, endothelial cell can either be squamous or cuboidal (e.g. high-endothelial cell) and secondly, it has different embryological derivation (mesodermal) than a true epithelial cell (ectodermal and endodermal). The basis for present classification is the fact that it comprises the outermost layer or lining of anatomical structures (location-based) but a better structural basis for the differentia is the cytoskeleton of the cell. Endothelial cell has vimentin filaments while an epithelial cell has keratin filaments. [Onard]. cell owl:Class CL:0000746 biolink:NamedThing cardiac muscle cell Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. In mammals, the contractile fiber resembles those of skeletal muscle but are only one third as large in diameter, are richer in sarcoplasm, and contain centrally located instead of peripheral nuclei. tmpxe7fu0cj_hp_relaxed.owl cardiac myocyte|cardiomyocyte|cardiac muscle fiber|heart muscle cell|cardiocyte CALOHA:TS-0115|BTO:0001539|FMA:14067 This class encompasses the muscle cells responsible for heart* contraction in both vertebrates and arthropods. The ultrastucture of a wide range of arthropod heart cells has been examined including spiders, horseshoe crabs, crustaceans (see Sherman, 1973 and refs therein) and insects (see Lehmacher et al (2012) and refs therein). According to these refs, the cells participating in heart contraction in all cases are transversely striated. Insects hearts additionally contain ostial cells, also transversely striated muscle cells, but which do not participate in heart contraction. FMA:83808 cell owl:Class CL:0000737 biolink:NamedThing striated muscle cell Muscle cell which has as its direct parts myofilaments organized into sarcomeres. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-2157|BTO:0002916|FMA:86936 cell owl:Class GO:2000266 biolink:NamedThing regulation of blood coagulation, intrinsic pathway Any process that modulates the frequency, rate or extent of blood coagulation, intrinsic pathway. tmpxe7fu0cj_hp_relaxed.owl mah 2010-11-23T11:45:40Z biological_process owl:Class GO:0030193 biolink:NamedThing regulation of blood coagulation Any process that modulates the frequency, rate or extent of blood coagulation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0010062 biolink:NamedThing pharyngotympanic tube epithelium tmpxe7fu0cj_hp_relaxed.owl eustachian tube epithelium|auditory tube epithelium EHDAA2:0004117|EMAPA:32801|MA:0003142|FMA:285217 uberon owl:Class UBERON:0010314 biolink:NamedThing structure with developmental contribution from neural crest An anatomical structure that has some part that develops from the neural crest. tmpxe7fu0cj_hp_relaxed.owl Grouping term for query purposes uberon owl:Class HP:0041214 biolink:NamedThing Fractured proximal phalanx of digit 5 A partial or complete breakage of the proximal phalanx of digit 5. tmpxe7fu0cj_hp_relaxed.owl bone proximal phalanx of digit 5 owl:Class GO:0051548 biolink:NamedThing negative regulation of keratinocyte migration Any process that stops, prevents, or reduces the frequency, rate or extent of keratinocyte migration. tmpxe7fu0cj_hp_relaxed.owl down regulation of keratinocyte migration|down-regulation of keratinocyte migration|inhibition of keratinocyte migration|downregulation of keratinocyte migration biological_process owl:Class GO:2001053 biolink:NamedThing regulation of mesenchymal cell apoptotic process Any process that modulates the frequency, rate or extent of mesenchymal cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of mesenchymal cell apoptosis yaf 2011-09-08T02:49:59Z biological_process owl:Class CHEBI:26456 biolink:NamedThing pyrrolidine alkaloid tmpxe7fu0cj_hp_relaxed.owl pyrrolidine alkaloids chebi_ontology owl:Class CHEBI:22315 biolink:NamedThing alkaloid Any of the naturally occurring, basic nitrogen compounds (mostly heterocyclic) occurring mostly in the plant kingdom, but also found in bacteria, fungi, and animals. By extension, certain neutral compounds biogenetically related to basic alkaloids are also classed as alkaloids. Amino acids, peptides, proteins, nucleotides, nucleic acids, amino sugars and antibiotics are not normally regarded as alkaloids. Compounds in which the nitrogen is exocyclic (dopamine, mescaline, serotonin, etc.) are usually classed as amines rather than alkaloids. tmpxe7fu0cj_hp_relaxed.owl alcaloides|Alkaloid|alkaloids|alcaloide|Alkaloide Wikipedia:Alkaloid chebi_ontology owl:Class HP:0009159 biolink:NamedThing Small epiphysis of the proximal phalanx of the 5th finger Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of the innermost bone of pinky finger|Small end part of the innermost bone of pinkie finger|Small end part of the innermost bone of little finger UMLS:C4024565 peter 2008-12-22T05:50:39Z human_phenotype owl:Class HP:0010276 biolink:NamedThing Small epiphyses of the proximal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Small end part of the innermost hand bones UMLS:C4023925 doelkens 2009-07-06T04:25:12Z owl:Class HP:0009646 biolink:NamedThing Patchy sclerosis of the distal phalanx of the thumb An uneven increase in bone density of the distal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the outermost bone of the thumb UMLS:C4024258 doelkens 2009-01-29T05:19:33Z human_phenotype owl:Class HP:0009617 biolink:NamedThing Abnormality of the distal phalanx of the thumb Any anomaly of the distal phalanx of thumb. tmpxe7fu0cj_hp_relaxed.owl Abnormality of terminal thumb phalanx|Abnormality of the outermost bone of the thumb UMLS:C4021422 doelkens 2009-01-29T04:13:47Z HP:0004081 human_phenotype owl:Class CHEBI:32876 biolink:NamedThing tertiary amine A compound formally derived from ammonia by replacing three hydrogen atoms by hydrocarbyl groups. tmpxe7fu0cj_hp_relaxed.owl R3N|tertiaeres Amin|tertiary amines|Tertiary amine 0 NR3 14.00670 14.00307 [*]N([*])[*] KEGG:C02196 CHEBI:9458|CHEBI:26879 chebi_ontology owl:Class CHEBI:32952 biolink:NamedThing amine A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups. tmpxe7fu0cj_hp_relaxed.owl Amine|Amin|Substituted amine|amines KEGG:C00706 CHEBI:13814|CHEBI:2641|CHEBI:22474 chebi_ontology owl:Class HP:0011476 biolink:NamedThing Profound sensorineural hearing impairment Complete loss of hearing related to a sensorineural defect. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023338 peter 2012-03-31T10:21:17Z human_phenotype owl:Class HP:0012715 biolink:NamedThing Profound hearing impairment A profound (essentially complete) form of hearing impairment. tmpxe7fu0cj_hp_relaxed.owl Profound hearing impairment UMLS:C4022756 peter 2014-03-23T12:38:39Z human_phenotype owl:Class UBERON:0011767 biolink:NamedThing right recurrent laryngeal nerve tmpxe7fu0cj_hp_relaxed.owl vagus X nerve right recurrent laryngeal branch|right recurrent laryngeal branch|right recurrent laryngeal nerve SCTID:280299003|EMAPA:17275|FMA:14468|MA:0001108 uberon owl:Class UBERON:0003716 biolink:NamedThing recurrent laryngeal nerve A branch of the vagus nerve that supplies motor function and sensation to the larynx (voice box). It travels within the endoneurium. It is the nerve of the 6th Branchial Arch. tmpxe7fu0cj_hp_relaxed.owl recurrent nerve|nervus laryngeus recurrens|ramus recurrens|recurrent laryngeal nerve from vagus nerve|inferior laryngeal nerve|vagus X nerve recurrent laryngeal branch Wikipedia:Recurrent_laryngeal_nerve|GAID:804|SCTID:24227007|VHOG:0001347|FMA:6246|AAO:0010754|MESH:D012009 uberon owl:Class Branch of the vagus nerve that separates from the vagus well postcranially, then continues anteriorly to innervate the larynx[AAO:0010754]. UBERON:0005095 biolink:NamedThing kidney rudiment tmpxe7fu0cj_hp_relaxed.owl kidney anlage class added for consistency with GO - consider merging with kidney mesenchyme. uberon owl:Class GO:0002703 biolink:NamedThing regulation of leukocyte mediated immunity Any process that modulates the frequency, rate, or extent of leukocyte mediated immunity. tmpxe7fu0cj_hp_relaxed.owl regulation of immune cell mediated immunity|regulation of leucocyte mediated immunity biological_process owl:Class UBERON:0036654 biolink:NamedThing wall of lateral ventricle tmpxe7fu0cj_hp_relaxed.owl FMA:242772 uberon owl:Class UBERON:0000060 biolink:NamedThing anatomical wall Organ component adjacent to an organ cavity and which consists of a maximal aggregate of organ component layers. tmpxe7fu0cj_hp_relaxed.owl organ wall|wall|wall of organ FMA:82482|EMAPA:25036|galen:Wall UBERON:0009915 uberon owl:Class in FMA, serosa is a wall CHEBI:76946 biolink:NamedThing fungal metabolite Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds. tmpxe7fu0cj_hp_relaxed.owl fungal metabolites CHEBI:75765|CHEBI:76947 chebi_ontology owl:Class CHEBI:75763 biolink:NamedThing eukaryotic metabolite Any metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms. tmpxe7fu0cj_hp_relaxed.owl eukaryotic metabolites chebi_ontology owl:Class GO:0050672 biolink:NamedThing negative regulation of lymphocyte proliferation Any process that stops, prevents or reduces the rate or extent of lymphocyte proliferation. tmpxe7fu0cj_hp_relaxed.owl inhibition of lymphocyte proliferation|down regulation of lymphocyte proliferation|down-regulation of lymphocyte proliferation|downregulation of lymphocyte proliferation biological_process owl:Class GO:0006874 biolink:NamedThing cellular calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. tmpxe7fu0cj_hp_relaxed.owl regulation of calcium ion concentration biological_process owl:Class GO:0072503 biolink:NamedThing cellular divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of divalent cations at the level of a cell. tmpxe7fu0cj_hp_relaxed.owl Note that this term was split from 'cellular di-, tri-valent inorganic cation homeostasis ; GO:0030005' (sibling term 'cellular trivalent inorganic cation homeostasis' ; GO:0072504'). mah 2010-12-16T01:25:40Z biological_process owl:Class HP:0030018 biolink:NamedThing Decreased female libido Dminished sexual desire in female. tmpxe7fu0cj_hp_relaxed.owl Decreased female sex drive UMLS:C4022676 owl:Class HP:0046504 biolink:NamedThing Decreased libido Decreased sexual desire. tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0042430 biolink:NamedThing indole-containing compound metabolic process The chemical reactions and pathways involving compounds that contain an indole (2,3-benzopyrrole) skeleton. tmpxe7fu0cj_hp_relaxed.owl ketole metabolism|indole derivative metabolic process|indole and derivative metabolism|ketole metabolic process|indole and derivative metabolic process|indole derivative metabolism|indole-containing compound metabolism GO:0042434 biological_process owl:Class GO:0046483 biolink:NamedThing heterocycle metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). tmpxe7fu0cj_hp_relaxed.owl heterocycle metabolism biological_process owl:Class HP:0033358 biolink:NamedThing Abnormal urine osmolality A deviation from the normal range of concentration of particles in urine. tmpxe7fu0cj_hp_relaxed.owl 2020-12-01 12:44:51+00:00 peter owl:Class HP:0003110 biolink:NamedThing Abnormality of urine homeostasis An abnormality of the composition of urine or the levels of its components. tmpxe7fu0cj_hp_relaxed.owl Pee issues|Urine issues UMLS:C4025655 HP:0011866|HP:0011865 owl:Class UBERON:0011860 biolink:NamedThing collection of collagen fibrils tmpxe7fu0cj_hp_relaxed.owl MESH:D024022|FMA:63212|NIF_Subcellular:sao7547390221|NCIT:C32339 uberon owl:Class the FMA class specifically refers to ureter BFO:0000040 biolink:NamedThing material entity An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time. tmpxe7fu0cj_hp_relaxed.owl bfo owl:Class HP:0004234 biolink:NamedThing Bone-in-a-bone appearance of carpal bones The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones. tmpxe7fu0cj_hp_relaxed.owl Bone-in-a-bone appearance of wrist bones UMLS:C4025403 human_phenotype owl:Class HP:0009164 biolink:NamedThing Abnormal calcification of the carpal bones tmpxe7fu0cj_hp_relaxed.owl Carpal calcifications|Abnormal calcification of the wrist bones UMLS:C1968592 peter 2008-12-22T06:53:39Z HP:0006154 human_phenotype owl:Class CHEBI:84729 biolink:NamedThing hydroxyindoles Any member of the class of indoles carrying at least one hydroxy group. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:33822 biolink:NamedThing organic hydroxy compound An organic compound having at least one hydroxy group attached to a carbon atom. tmpxe7fu0cj_hp_relaxed.owl organic alcohol|organic hydroxy compounds|hydroxy compounds CHEBI:64710 chebi_ontology owl:Class UBERON:5102389 biolink:NamedThing manual digit digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl manual digit|manual digit skeleton this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class UBERON:5102544 biolink:NamedThing individual digit of digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of a single digit plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl digit|digit skeleton this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class GO:0008203 biolink:NamedThing cholesterol metabolic process The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. tmpxe7fu0cj_hp_relaxed.owl cholesterol metabolism biological_process owl:Class GO:1902652 biolink:NamedThing secondary alcohol metabolic process The chemical reactions and pathways involving secondary alcohol. tmpxe7fu0cj_hp_relaxed.owl secondary alcohol metabolism tt 2014-01-22T10:14:52Z biological_process owl:Class GO:0045914 biolink:NamedThing negative regulation of catecholamine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving catecholamine. tmpxe7fu0cj_hp_relaxed.owl inhibition of catecholamine metabolic process|downregulation of catecholamine metabolic process|down-regulation of catecholamine metabolic process|down regulation of catecholamine metabolic process|negative regulation of catecholamine metabolism biological_process owl:Class GO:0042069 biolink:NamedThing regulation of catecholamine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving catecholamines. tmpxe7fu0cj_hp_relaxed.owl regulation of catecholamine metabolism biological_process owl:Class HP:0012391 biolink:NamedThing Hyporeflexia of upper limbs Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1836835 peter 2013-11-07T07:42:49Z human_phenotype owl:Class HP:0001265 biolink:NamedThing Hyporeflexia Reduction of neurologic reflexes such as the knee-jerk reaction. tmpxe7fu0cj_hp_relaxed.owl Decreased reflex response|Decreased reflexes UMLS:C0700078|SNOMEDCT_US:405946002 HP:0002467 human_phenotype owl:Class HP:0000179 biolink:NamedThing Thick lower lip vermilion Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). tmpxe7fu0cj_hp_relaxed.owl Increased height of lower lip vermilion|Prominent lower lip|Prominent lower lip vermilion|Thick lower lip|Thick vermilion border of lower lip|Full lower lip vermilion|Full lower lip|Increased volume of lower lip|Thick red part of the lower lip|Increased volume of lower lip vermilion|Plump lower lip UMLS:C2053437|UMLS:C1839739 Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately. HP:0000170 human_phenotype owl:Class HP:0000178 biolink:NamedThing Abnormality of lower lip An abnormality of the lower lip. tmpxe7fu0cj_hp_relaxed.owl Malformation of the lower lip|Anomaly of the lower lip|Deformity of the lower lip|Abnormality of lower lip UMLS:C4025883 human_phenotype owl:Class HP:0003402 biolink:NamedThing Decreased miniature endplate potentials An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. tmpxe7fu0cj_hp_relaxed.owl Small miniature endplate currents|Small miniature endplate potentials|Decreased MEPP UMLS:C1853952 Miniature end plate potentials are the small (about 0.5mV) depolarisations of the postsynaptic terminal caused by the release of a single vesicle into the synaptic cleft. owl:Class HP:0003398 biolink:NamedThing Abnormal synaptic transmission at the neuromuscular junction Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. tmpxe7fu0cj_hp_relaxed.owl Abnormality of neuromuscular transmission UMLS:C4025618|UMLS:C4020842 human_phenotype owl:Class UBERON:0007589 biolink:NamedThing ciliated columnar oviduct epithelium A ciliated columnar epithelium that is part of a oviduct. tmpxe7fu0cj_hp_relaxed.owl uterine tube epithelium|epithelium of uterine tube FMA:62016|MA:0001719 uberon owl:Class in FMA, epithelium of uterine tube is a subclass of ciliated columnar epithelium. MA introduces subtypes: ciliated columnar and cuboidal. We map the FMA type according to its relationships, not its label UBERON:0004804 biolink:NamedThing oviduct epithelium An epithelium that is part of a oviduct [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelium of fallopian tube|epithelial tissue of oviduct|epithelium of oviduct|columnar epithelium of the fallopian tube|epithelium of uterine tube|fallopian tube epithelium|oviduct epithelial tissue|columnar epithelium of the oviduct MA:0001718|EMAPA:29043|CALOHA:TS-1316|BTO:0002402 uberon owl:Class in FMA, epithelium of uterine tube is a subclass of ciliated columnar epithelium. MA introduces subtypes: ciliated columnar and cuboidal. We map the FMA type according to its relationships, not its label PR:000018263 biolink:NamedThing amino acid chain An organic amino compound that consists of amino acid residues (unmodified amino-acid residues and/or modified amino-acid residues) linked by peptide bonds or derivatives of such bonds. tmpxe7fu0cj_hp_relaxed.owl polypeptide|peptide Category=external. protein owl:Class PR:000002981 biolink:NamedThing lymphocyte antigen 76 (mouse) A protein that is a translation product of the Ly76 gene in mouse. tmpxe7fu0cj_hp_relaxed.owl mLy76|ter-119|ter119 Category=organism-gene. Requested by=CL. protein owl:Class PR:000029032 biolink:NamedThing Mus musculus protein A protein that is encoded in the genome of Mus musculus. tmpxe7fu0cj_hp_relaxed.owl mouse protein protein owl:Class GO:0051250 biolink:NamedThing negative regulation of lymphocyte activation Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte activation. tmpxe7fu0cj_hp_relaxed.owl down regulation of lymphocyte activation|inhibition of lymphocyte activation|downregulation of lymphocyte activation|down-regulation of lymphocyte activation biological_process owl:Class HP:0030648 biolink:NamedThing Midperipheral tmpxe7fu0cj_hp_relaxed.owl Mid-peripheral UMLS:C4073111 owl:Class HP:0012836 biolink:NamedThing Spatial pattern The pattern by which a phenotype affects one or more regions of the body. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022711 peter 2014-06-06T07:25:02Z human_phenotype owl:Class HP:0030710 biolink:NamedThing Lipomeningocele A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:253120005|UMLS:C0431344 owl:Class HP:0002435 biolink:NamedThing Meningocele Protrusion of the meninges through a defect of the skull or vertebral column. tmpxe7fu0cj_hp_relaxed.owl MSH:D008588|UMLS:C0025299|SNOMEDCT_US:171131006 owl:Class GO:0061182 biolink:NamedThing negative regulation of chondrocyte development Any process that decreases the rate, frequency, or extent of the process whose specific outcome is the progression of a chondrocyte over time, from its commitment to its mature state. Chondrocyte development does not include the steps involved in committing a chondroblast to a chondrocyte fate. tmpxe7fu0cj_hp_relaxed.owl dph 2010-07-14T08:33:05Z biological_process owl:Class GO:0010721 biolink:NamedThing negative regulation of cell development Any process that decreases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100045 biolink:NamedThing Bracket epiphyses of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of 2nd toe bone UMLS:C4022376 doelkens 2010-06-24T09:58:18Z human_phenotype owl:Class HP:0010163 biolink:NamedThing Bracket epiphyses of the toes tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the toe bones UMLS:C4023996 doelkens 2009-05-29T01:34:06Z human_phenotype owl:Class GO:0032965 biolink:NamedThing regulation of collagen biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. tmpxe7fu0cj_hp_relaxed.owl regulation of collagen biosynthesis|regulation of collagen formation|regulation of collagen anabolism|regulation of collagen synthesis biological_process owl:Class GO:0010712 biolink:NamedThing regulation of collagen metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the metabolism of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. tmpxe7fu0cj_hp_relaxed.owl regulation of collagen metabolism biological_process owl:Class HP:0003677 biolink:NamedThing Slowly progressive Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. tmpxe7fu0cj_hp_relaxed.owl Slow disease progression|Signs and symptoms worsen slowly with time|Slowly progressive disorder|Slow progression UMLS:C1854494 HP:0003675|HP:0003681 owl:Class HP:0003679 biolink:NamedThing Pace of progression tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025580 human_phenotype owl:Class GO:0002468 biolink:NamedThing dendritic cell antigen processing and presentation The process in which a dendritic cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0019882 biolink:NamedThing antigen processing and presentation The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. tmpxe7fu0cj_hp_relaxed.owl antigen presentation|antigen processing Wikipedia:Antigen_presentation GO:0030333 biological_process owl:Class HP:0100369 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped outermost 3rd toe bone|Absent/small outermost 3rd toe bone UMLS:C4022122 human_phenotype owl:Class HP:0010331 biolink:NamedThing Aplasia/Hypoplasia of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped 3rd toe|Absent/hypoplastic third toe|Absent/small 3rd toe UMLS:C1862698 doelkens 2009-07-16T11:40:52Z HP:0008100 human_phenotype owl:Class HP:0045075 biolink:NamedThing Sparse eyebrow Decreased density/number of eyebrow hairs. tmpxe7fu0cj_hp_relaxed.owl Hypotrichosis of eyebrow|Sparse eyebrow|Sparse eyebrows owl:Class HP:0100840 biolink:NamedThing Aplasia/Hypoplasia of the eyebrow Absence or underdevelopment of the eyebrow. tmpxe7fu0cj_hp_relaxed.owl Hypotrophic eyebrow|Sparse or absent eyebrows|Sparse to absent eyebrows|Agenesis of eyebrow|Sparse/absent eyebrows|Missing eyebrow|Absence of eyebrow|Lack of eyebrow UMLS:C1848765|UMLS:C4021956|UMLS:C3551430|UMLS:C2266639 doelkens 2011-06-09T06:40:51Z owl:Class CHEBI:25806 biolink:NamedThing oxygen molecular entity tmpxe7fu0cj_hp_relaxed.owl oxygen molecular entity|oxygen molecular entities chebi_ontology owl:Class CL:0000365 biolink:NamedThing animal zygote Diploid cell produced by the fusion of sperm cell nucleus and egg cell. tmpxe7fu0cj_hp_relaxed.owl zygote BTO:0000854|FMA:72395|EHDAA2:0004546 cell owl:Class CL:0010017 biolink:NamedThing zygote A zygote in a plant or an animal. tmpxe7fu0cj_hp_relaxed.owl owl:Class PATO:0040030 biolink:NamedThing decreased width and length A width and length quality which is relatively small, where both width and length are decreased. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0000574 biolink:NamedThing decreased length A length quality which is relatively small. tmpxe7fu0cj_hp_relaxed.owl stubby|short|shortened quality owl:Class UBERON:0004236 biolink:NamedThing arteriole smooth muscle A portion of smooth muscle tissue that is part of an arteriole [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl MA:0000706|FMA:312251|EMAPA:36287 uberon owl:Class UBERON:0001135 biolink:NamedThing smooth muscle tissue Muscle tissue which is unstriated, composed primarily of smooth muscle fibers surrounded by a reticulum of collagen and elastic fibers. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length[GO]. tmpxe7fu0cj_hp_relaxed.owl visceral muscle tissue|involuntary muscle|textus muscularis levis; textus muscularis nonstriatus|non-striated muscle|smooth muscle|textus muscularis nonstriatus|visceral muscle EV:0100378|XAO:0000175|MAT:0000303|galen:SmoothMuscle|AAO:0010244|galen:SmoothMuscleTissue|Wikipedia:Smooth_muscle_tissue|EMAPA:32717|WBbt:0005781|MIAA:0000303|VHOG:0001246|GAID:167|FMA:14070|ZFA:0005274|EFO:0000889|CALOHA:TS-0943|AEO:0000141|FBbt:00003525|EHDAA2:0003141|TAO:0005274|MESH:D009130|UMLS:C1267092|MA:0000166|NCIT:C12437|BTO:0001260|OpenCyc:Mx4rvvSS3pwpEbGdrcN5Y29ycA Glatte:Muskelzellen.jpg uberon owl:Class Involuntary muscle tissue consisting of uninucleate spindle-shaped fibers.[AAO]|A non-striated muscle that is composed of spindle-shaped cells. Smooth muscle usually is organized into sheets that line cavitated organs.[TAO] (...) the first bilateral animals possessed only smooth muscles with the molecular repertoire necessary to build a striated muscle. (...) it is more parsimonious to regard striated muscle cells as a sister cell type to the smooth muscle cells. In this scenario, striated and smooth muscles would have arisen in the stem lineage that led to the Nephrozoa (i.e. all Bilateria exclusive the acoelomorphs) (Hejnol et al., 2009), from an 'acoel-like' smooth muscle, by segregation and divergence of functions and through differential recruitment of additional genes[well established][VHOG] GO uses visceral and smooth interchangeably. However visceral can also be used in the sense of the viscera. Many fly annotations to smooth muscle terms. If we want to be inclusive of insects have to have a general definition of tissue that includes cells. UBERON:0005200 biolink:NamedThing thoracic mammary gland A lactiferous gland that is located in the thoracic region/breast. tmpxe7fu0cj_hp_relaxed.owl anterior mammary gland|mammary gland|breast mammary gland|lactiferous gland EHDAA:6524|FMA:62088|MA:0000797|EMAPA:36633|EHDAA2:0001056 uberon owl:Class Most primates have one pair of mammary glands, which are thoracic. UBERON:0005175 biolink:NamedThing chest organ An organ that is part of a chest [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl MA:0000552|EMAPA:37272 uberon owl:Class UBERON:0006596 biolink:NamedThing presumptive blood tmpxe7fu0cj_hp_relaxed.owl future blood TAO:0000568|EFO:0003439|AAO:0000468|ZFA:0000568 uberon owl:Class HP:0009857 biolink:NamedThing Symphalangism affecting the proximal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Fused innermost hand bones UMLS:C4024178 doelkens 2009-03-11T12:16:33Z HP:0009873 human_phenotype owl:Class HP:0009834 biolink:NamedThing Abnormal proximal phalanx morphology of the hand tmpxe7fu0cj_hp_relaxed.owl Abnormality of the proximal phalanges of the hand|Abnormality of the innermost finger bones of the hand UMLS:C4024190 doelkens 2009-03-11T12:01:39Z human_phenotype owl:Class HP:0012535 biolink:NamedThing Abnormal synaptic transmission An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. tmpxe7fu0cj_hp_relaxed.owl Abnormality of neurotransmitter metabolism UMLS:C4021083 peter 2013-12-15T10:12:31Z owl:Class HP:0012638 biolink:NamedThing Abnormal nervous system physiology A functional anomaly of the nervous system. tmpxe7fu0cj_hp_relaxed.owl Abnormality of nervous system physiology UMLS:C4022811 peter 2014-01-19T08:02:46Z human_phenotype owl:Class UBERON:0006219 biolink:NamedThing deltoid pre-muscle mass tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000340|EHDAA:6002|EMAPA:17749 uberon owl:Class HP:0033028 biolink:NamedThing Anti-U1 ribonucleoprotein antibody positivity The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP. tmpxe7fu0cj_hp_relaxed.owl Anti-U3 ribonucleoprotein antibody positivity|Anti-Scl-34 antibody positivity|Anti-RNP-antibodies|Anti-U1-RNP antibody positivity High titers of anti-RNP antibodies are diagnostic of mixed connective tissue disorder (MCTD). Anti-RNP antibodies can also be found in patients with systemic lupus erythematosus. peter owl:Class HP:0033476 biolink:NamedThing Extractable nuclear antigen positivity The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:51:15+00:00 This is a group of autoantibodies against autoantigens that can be extracted from the cell nucleus with saline. The ENAs consist of ribonucleoproteins and non-histone proteins, named by either the name of the donor who provided the prototype serum (Sm, Ro, La, Jo), or the name of the disease setting in which the antibodies were found (SS-A, SS-B, Scl-70). peter owl:Class HP:0005092 biolink:NamedThing Streaky metaphyseal sclerosis The presence of streaks (bands) of abnormally increased density of metaphyseal bone. tmpxe7fu0cj_hp_relaxed.owl Streak increase in bone density in wide portion of wide bone UMLS:C4025253 human_phenotype owl:Class HP:0004979 biolink:NamedThing Metaphyseal sclerosis Abnormally increased density of metaphyseal bone. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in wide portion of long bone|Sclerotic metaphyses UMLS:C3552526 human_phenotype owl:Class HP:0100613 biolink:NamedThing Death in early adulthood Death between the age of 16 and 40 years. tmpxe7fu0cj_hp_relaxed.owl Death in early adulthood UMLS:C4022012 doelkens 2010-12-28T11:12:21Z owl:Class HP:0033763 biolink:NamedThing Death in adulthood Cessation of life at the age of 16 years or later. tmpxe7fu0cj_hp_relaxed.owl 2021-04-30 11:20:03+00:00 peter owl:Class PATO:0000516 biolink:NamedThing sensitive toward A quality inhering in a bearer by virtue of the bearer's having sensitivity toward an external stimulus. tmpxe7fu0cj_hp_relaxed.owl sensitive quality owl:Class PATO:0000085 biolink:NamedThing sensitivity toward A quality inhering in a bearer by virtue of the bearer's disposition to detect or perceive external stimulation. tmpxe7fu0cj_hp_relaxed.owl sensitivity quality owl:Class UBERON:0001855 biolink:NamedThing cochlear duct of membranous labyrinth An endolymph filled cavity inside the cochlea, located in between the scala tympani and the scala vestibuli, separated by the basilar membrane and Reissner's membrane (the vestibular membrane) respectively. Houses the organ of Corti[WP]. tmpxe7fu0cj_hp_relaxed.owl Reissner's canal|scala media|Reissners canal|scala of Loewenberg|cochlea duct|membranous cochlea|scala medias|cochlear aqueduct|ductus cochlearis|cochlear duct VHOG:0000507|EHDAA:4718|CALOHA:TS-0152|FMA:61119|NCIT:C32335|UMLS:C1281166|MESH:D003053|EMAPA:17598|GAID:874|BTO:0001692|BIRNLEX:2562|MA:0000243|UMLS:C1323110|EHDAA2:0000262 http://upload.wikimedia.org/wikipedia/commons/b/bc/Gray928.png TODO - check cochlear duct vs cochlear aqueduct vs scala media uberon owl:Class The coiled portion of the membranous labyrinth located inside the cochlea. It contains endolymph. [TFD][VHOG] In gnathostomes, each membranous labyrinth has three semicircular ducts that connect with a chamber known as the utriculus. (...) In all gnathostomes, the utriculus connects ventrally with a larger sac, called the sacculus (...) In most groups of gnathostomes, the caudoventral evagination of the sacculus forms a small lagena, and in some diapsids and mammals the lagena develops into a longer duct. The lagena becomes greatly elongated in therians and coils to form the cochlear duct.[well established][VHOG] UBERON:0000025 biolink:NamedThing tube Any hollow cylindrical anatomical structure containing a lumen through which substances are transported. tmpxe7fu0cj_hp_relaxed.owl duct|anatomical tube galen:Tube not every anatomical conduit is a tube - for example, a bone foramen is an opening in the bone, and there is no distinct separate tube structure. Tubes may transport large mixed objects (for example, a bolus of food in the digestive tube) or they may transport the secretions of a single gland (for example, gland ducts) uberon owl:Class tubular HP:0041220 biolink:NamedThing Fractured facial bone A partial or complete breakage of the facial bone. tmpxe7fu0cj_hp_relaxed.owl bone facial bone owl:Class HP:0011821 biolink:NamedThing Abnormality of facial skeleton An abnormality of one or more of the set of bones that make up the facial skeleton. tmpxe7fu0cj_hp_relaxed.owl Malformation of facial bones|Anomaly of facial skeleton|Abnormality of facial skeleton|Deformity of facial skeleton|Anomaly of facial bones|Abnormality of facial bones|Malformation of facial skeleton|Deformity of the facial bones SNOMEDCT_US:433096001|UMLS:C2315229 The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer. peter 2012-04-29T04:37:30Z human_phenotype owl:Class HP:0030040 biolink:NamedThing Fused lumbar vertebrae A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022663 owl:Class HP:0002948 biolink:NamedThing Vertebral fusion A developmental defect leading to the union of two adjacent vertebrae. tmpxe7fu0cj_hp_relaxed.owl Spinal fusion|Vertebral body fusion|Fused vertebrae|Fusion of vertebral bodies UMLS:C1835763|UMLS:C1849073|UMLS:C3278509 HP:0008485|HP:0008471|HP:0002807 human_phenotype owl:Class UBERON:0022248 biolink:NamedThing cerebral nerve fasciculus tmpxe7fu0cj_hp_relaxed.owl telencephalic fascicle|telencephalic nerve fascicle|cerebral fasciculus|nerve fascicle of telencephalon|cerebral fascicle FMA:260712 uberon owl:Class UBERON:0001019 biolink:NamedThing nerve fasciculus A slender neuron projection bundle[FBbt]; A bundle of anatomical fibers, as of muscle or nerve (American Heritage Dictionary 4th ed). tmpxe7fu0cj_hp_relaxed.owl fasciculus|nerve fasciculus|neural fasciculus|nerve bundle|fascicle|nerve fiber tract Wikipedia:Nervous_system_fascicle|BIRNLEX:872|NCIT:C32586|TGMA:0000088|FMA:12235|EMAPA:36605|UMLS:C1185741|BTO:0002191 note FBbt class not disjoint from tract. Consider merging with 'neuron projection bundle' uberon owl:Class GO:0035562 biolink:NamedThing negative regulation of chromatin binding Any process that stops or reduces the frequency, rate or extent of chromatin binding. Chromatin binding is the selective interaction with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. tmpxe7fu0cj_hp_relaxed.owl bf 2010-05-19T10:29:06Z biological_process owl:Class GO:1901215 biolink:NamedThing negative regulation of neuron death Any process that stops, prevents or reduces the frequency, rate or extent of neuron death. tmpxe7fu0cj_hp_relaxed.owl downregulation of neuron cell death|downregulation of neuron death|negative regulation of neuron cell death|downregulation of neuronal cell death|down-regulation of neuron cell death|inhibition of neuronal cell death|down-regulation of neuronal cell death|down regulation of neuronal cell death|inhibition of neuron death|negative regulation of neuronal cell death|inhibition of neuron cell death|down regulation of neuron cell death|down regulation of neuron death|down-regulation of neuron death rph 2012-08-02T09:58:07Z biological_process owl:Class GO:1901214 biolink:NamedThing regulation of neuron death Any process that modulates the frequency, rate or extent of neuron death. tmpxe7fu0cj_hp_relaxed.owl regulation of neuron cell death|regulation of neuronal cell death rph 2012-08-02T09:57:41Z biological_process owl:Class CHEBI:23505 biolink:NamedThing cystathionines tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:24610 biolink:NamedThing homocysteines tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class MAXO:0010319 biolink:NamedThing CT angiogram The use of computed tomography to produce images of structures of the blood vasculature. tmpxe7fu0cj_hp_relaxed.owl CT of blood vasculature|blood vasculature CAT scan|blood vasculature CT examination|blood vasculature computerized axial tomography|blood vasculature computed tomography|CAT scan of blood vasculature 2020-04-07T20:39:14Z http://orcid.org/0000-0001-7941-3010 owl:Class MAXO:0000571 biolink:NamedThing computed tomography procedure A method of examining structures within the body by scanning them with X rays and using a computer to construct a series of cross-sectional scans along a single axis. tmpxe7fu0cj_hp_relaxed.owl CT scan|CT|CAT scan|computerized axial tomography 2020-03-30 20:32:28+00:00 NCIT:C17204 owl:Class HP:0011941 biolink:NamedThing Anterior wedging of L2 An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023114 peter 2012-06-10T06:10:08Z human_phenotype owl:Class HP:0008422 biolink:NamedThing Vertebral wedging An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. tmpxe7fu0cj_hp_relaxed.owl Wedged vertebrae|Wedge-shaped vertebrae|anterior wedging UMLS:C1695776 human_phenotype owl:Class HP:0200001 biolink:NamedThing Dysharmonic accelerated bone age A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021907 sebastiankohler 2010-05-31T01:20:58Z human_phenotype owl:Class HP:0005616 biolink:NamedThing Accelerated skeletal maturation An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. tmpxe7fu0cj_hp_relaxed.owl Advanced bone age|Early bone maturation SNOMEDCT_US:123982003|UMLS:C0545053 HP:0002649|HP:0005854 human_phenotype owl:Class HP:0025605 biolink:NamedThing Lid lag on downgaze Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign. tmpxe7fu0cj_hp_relaxed.owl von Graefe sign|Eyelid lag|Lid lag 2018-01-13 22:37:21+00:00 HPO:probinson owl:Class HP:0031785 biolink:NamedThing Abnormal eyelid movement An abnormality in voluntary or involuntary eyelid movements or their control. tmpxe7fu0cj_hp_relaxed.owl 2018-01-28 12:51:02+00:00 peter owl:Class GO:0060170 biolink:NamedThing ciliary membrane The portion of the plasma membrane surrounding a cilium. tmpxe7fu0cj_hp_relaxed.owl flagellum membrane|flagellar membrane|cilial membrane|cilium membrane Note that cilia and eukaryotic flagella are deemed to be equivalent. GO:0020017 cellular_component owl:Class GO:0098588 biolink:NamedThing bounding membrane of organelle The lipid bilayer that forms the outer-most layer of an organelle. tmpxe7fu0cj_hp_relaxed.owl Examples include the outer membranes of double membrane bound organelles such as mitochondria as well as the bounding membranes of single-membrane bound organelles such as lysosomes. dos 2014-02-26T13:41:31Z cellular_component owl:Class NBO:0000747 biolink:NamedThing jaw movement tmpxe7fu0cj_hp_relaxed.owl owl:Class NBO:0000007 biolink:NamedThing mouth movement tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0014807 biolink:NamedThing regulation of somitogenesis Any process that modulates the frequency, rate or extent of somitogenesis. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0022603 biolink:NamedThing regulation of anatomical structure morphogenesis Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. tmpxe7fu0cj_hp_relaxed.owl regulation of morphogenesis biological_process owl:Class GO:0042100 biolink:NamedThing B cell proliferation The expansion of a B cell population by cell division. Follows B cell activation. tmpxe7fu0cj_hp_relaxed.owl B-cell proliferation|B lymphocyte proliferation|B-lymphocyte proliferation GO:0042114 biological_process owl:Class GO:0046651 biolink:NamedThing lymphocyte proliferation The expansion of a lymphocyte population by cell division. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0040133 biolink:NamedThing Abnormal circulating ferritin concentration A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma. tmpxe7fu0cj_hp_relaxed.owl Abnormal serum ferritin|Abnormal plasma ferritin UMLS:C0853228 Ferritin is an iron storage protein present in all cells of the organism. A small amount is found in plasma and serum, which is a reflection of iron stores in healthy individuals. A low serum ferritin concentration is usually regarded as an indicator of iron depletion, although the interpretation of normal or high serum ferritin values is challenging in the presence of acute or chronic inflammatory processes, as ferritin is increased in iron overload states and inflammation. HPO:skoehler owl:Class HP:0010876 biolink:NamedThing Abnormal circulating protein concentration An abnormal level of a circulating protein in the blood. tmpxe7fu0cj_hp_relaxed.owl Serum protein abnormality|Abnormality of circulating protein level|Abnormal circulating protein level|Blood protein disease UMLS:C4020764|UMLS:C4023679|UMLS:C4020763 peter 2010-09-07T01:51:12Z owl:Class HP:0012644 biolink:NamedThing Increased caudate lactate level An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022806 peter 2014-01-28T08:19:22Z human_phenotype owl:Class HP:0025445 biolink:NamedThing Morphological abnormality of the papillary muscles Any structural anomaly of the papillary muscles of the left ventricle. tmpxe7fu0cj_hp_relaxed.owl 2017-04-30 10:43:49+00:00 There are normally two papillary muscles. The antero-lateral papillary muscle is located in the apical third of the ventricular wall, and the postero-medial papillary muscle is located in the middle third of the ventricular wall. The antero-lateral papillary muscle is usually composed of one body or head, and the postero-medial papillary muscle usually with two bodies or heads. Each papillary muscle provides chordae to both leaflets of the mitral valve, with one of the major functions of the papillary muscles being to prevents prolapse of anterior and posterior cusps of mitral valve during systole. HPO:probinson owl:Class HP:0001711 biolink:NamedThing Abnormal left ventricle morphology Any structural abnormality of the left ventricle of the heart. tmpxe7fu0cj_hp_relaxed.owl Abnormal heart left ventricle morphology|Abnormality of the left ventricle|Left ventricular abnormality Fyler:1810|UMLS:C0344905|SNOMEDCT_US:253535002 human_phenotype owl:Class UBERON:0003649 biolink:NamedThing metacarpal bone of digit 5 A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 5. tmpxe7fu0cj_hp_relaxed.owl metacarpal bone digit 5|metacarpal of fifth finger|metacarpal bone of digit V|metacarpal bone of 5 th digit of hand|metacarpal bone of fifth finger|fifth finger metacarpal bone|5 th digit of hand metacarpal bone|5 th finger metacarpal bone|5 th digit of hand metacarpal|fifth finger metacarpal|forelimb digit 5 metacarpus|fifth metacarpal bone|hand digit 5 metacarpal|metacarpal bone of hand digit 5|finger 5 metacarpus|metacarpal of 5 th finger|manual digit 5 metacarpus|5 th finger metacarpal|metacarpal bone of 5 th finger|hand digit 5 metacarpal bone|metacarpal V|metacarpal of 5 th digit of hand|metacarpal 5|metacarpal of hand digit 5 UMLS:C1711224|NCIT:C52792|MA:0001368|FMA:23903|EMAPA:19120|AAO:0000855 uberon owl:Class Dumb-bell shaped bones of endochondral origin with cartilaginous epiphyses that articulates with carpal 5(4) proximally and with the proximal phalanx of digit V(IV) distally.[AAO]|The fifth metacarpal bone (metacarpal bone of the little finger or pinky finger) is the most lateral metacarpal[Wikipedia:Fifth_metacarpal_bone]. FMA also has FMA:36782 ! Bone of fifth metacarpal bone 5 UBERON:0015047 biolink:NamedThing manual digit 5 metacarpus endochondral element A manual digit 5 metacarpus bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl manual digit 5 metacarpus skeletal element|manual digit 5 metacarpus element|manual digit V metacarpus endochondral element uberon owl:Class UBERON:0008874 biolink:NamedThing pulmonary acinus The part of the airway consisting of a respiratory bronchiole and all of its branches. tmpxe7fu0cj_hp_relaxed.owl lobulus pulmonis primarius|respiratory lobule|arbor alveolaris|primary pulmonary lobule|acinus pulmonaris NCIT:C33426|FMA:7313|UMLS:C0225696|EMAPA:37941 uberon owl:Class UBERON:0010368 biolink:NamedThing pulmonary lobule The smallest anatomical unit of the lung, measuring 0.50 to 2.00 cm in diameter. Each lobule is composed of 4-8 terminal bronchioles and their distal alveolar ducts and sacs. The lobules are separated by fibrous interlobular septa. tmpxe7fu0cj_hp_relaxed.owl lobulus pulmonis NCIT:C33428|FMA:75739 uberon owl:Class HP:0032124 biolink:NamedThing Abnormal proportion of unswitched memory B cells A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal proportion of non-class-switched memory B cells 2018-11-22 12:51:44+00:00 peter owl:Class HP:0030373 biolink:NamedThing Abnormal proportion of memory B cells A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072912 Memory B cells can be defined as CD19+/CD27+ or CD20+/CD27+ cells in flow cytometry. owl:Class UBERON:0007265 biolink:NamedThing intervertebral disk of axis An intervertebral disk that connects a vertebral bone 2 and connects a mammalian cervical vertebra 3. tmpxe7fu0cj_hp_relaxed.owl intervertebral disc of second cervical vertebra|intervertebral disk of second cervical vertebra|C2 disk|intervertebral disk of cervical vertebra 2|intervertebral disc of cervical vertebra 2|second cervical intervertebral disk|intervertebral disk, C2-C3|C2 intervertebral disk FMA:25058|EMAPA:19419 uberon owl:Class UBERON:0001066 biolink:NamedThing intervertebral disk A pad of fibrocartilage between the articular surfaces of two successive vertebral centra which has nucleus pulposus at its core. tmpxe7fu0cj_hp_relaxed.owl intervertebral fibrocartilage|discus intervertebralis|spinal disc|intervertebral disc|spinal disk BTO:0003625|MESH:A02.165.410|MA:0000110|EMAPA:32739|EFO:0001370|UMLS:C0021815|OpenCyc:Mx4rv11AcpwpEbGdrcN5Y29ycA|FMA:10446|NCIT:C49571|GAID:105 whose gel-like core is nucleus puloposus, by this definition only in mammals http://upload.wikimedia.org/wikipedia/commons/9/92/Gray301.png uberon owl:Class strictly speaking the term intervertebral disk [applies to intervertebral cartilage] HP:0033958 biolink:NamedThing Cortical radial artery foam cell hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney. tmpxe7fu0cj_hp_relaxed.owl Endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells 2021-06-24 12:31:30+00:00 peter owl:Class HP:0033955 biolink:NamedThing Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). tmpxe7fu0cj_hp_relaxed.owl Endoarterial hypercellularity within interlobular artery consisting of leukocytes 2021-06-24 12:28:14+00:00 peter owl:Class GO:0003723 biolink:NamedThing RNA binding Binding to an RNA molecule or a portion thereof. tmpxe7fu0cj_hp_relaxed.owl poly-A RNA binding|base pairing with RNA|poly(A)-RNA binding|poly(A) RNA binding Reactome:R-HSA-203922 GO:0000498|GO:0044822 molecular_function owl:Class HP:0010165 biolink:NamedThing Enlarged epiphyses of the toes tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the toe bones UMLS:C4023994 doelkens 2009-05-29T01:34:06Z human_phenotype owl:Class HP:0010580 biolink:NamedThing Enlarged epiphyses Increased size of epiphyses. tmpxe7fu0cj_hp_relaxed.owl Large end part of bone|Widened, distorted epiphyses|Large epiphyses UMLS:C1833328 sandra1 2009-10-22T02:53:19Z HP:0003055|HP:0003018|HP:0005082 human_phenotype owl:Class HP:0030997 biolink:NamedThing Atretic vas deferens Abnormal closure or blockage of the vas deferens. tmpxe7fu0cj_hp_relaxed.owl Atresia of the vas deferens|Vas deferens atresia 2017-05-13 14:13:29+00:00 peter owl:Class HP:0012872 biolink:NamedThing Abnormal vas deferens morphology A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022697 hecht 2014-06-09T11:13:37Z human_phenotype owl:Class HP:0100372 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped middle 3rd toe bone|Absent/small middle 3rd toe bone UMLS:C4022119 human_phenotype owl:Class HP:0010359 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Absent/small bones of 3rd toe|Absent/underdeveloped bones of 3rd toe UMLS:C4023882 doelkens 2009-07-16T11:51:17Z human_phenotype owl:Class GO:0051336 biolink:NamedThing regulation of hydrolase activity Any process that modulates the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3. tmpxe7fu0cj_hp_relaxed.owl hydrolase regulator biological_process owl:Class HP:0010280 biolink:NamedThing Stomatitis Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. tmpxe7fu0cj_hp_relaxed.owl Inflammation of the mouth|Gingivostomatitis MSH:D013280|UMLS:C0038362|UMLS:C0149704|SNOMEDCT_US:20607006|SNOMEDCT_US:61170000 peter 2009-07-12T09:48:56Z human_phenotype owl:Class HP:0011830 biolink:NamedThing Abnormal oral mucosa morphology Abnormality of the oral mucosa. tmpxe7fu0cj_hp_relaxed.owl Abnormality of oral mucosa|Abnormality of lining of mouth|Abnormality of mucosa of mouth|Abnormality of oral mucous membrane UMLS:C4023170 peter 2012-05-01T10:43:40Z human_phenotype owl:Class UBERON:0011582 biolink:NamedThing paired limb/fin skeleton The collection of all skeletal elements in an individual limb or fin. tmpxe7fu0cj_hp_relaxed.owl skeleton of limb/fin|skeletal parts of limb/fin|limb/fin skeleton VSAO:0000301 uberon owl:Class Skeletal subdivision that is part of the paired limb/fin.[VSAO] UBERON:0010912 biolink:NamedThing subdivision of skeleton Anatomical cluster consisting of the skeletal elements (i.e. bone elements, cartilage elements, cartilage condensations) that are part of an individual subdivision of the organism. Excludes joints. tmpxe7fu0cj_hp_relaxed.owl subdivision of skeleton (in vivo)|skeletal subdivision VSAO:0000042|FMA:23879|SCTID:129140006 uberon owl:Class Anatomical cluster consisting of the skeletal elements that are part of the skeleton.[VSAO] HP:0100764 biolink:NamedThing Lymphangioma Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0024221|MSH:D008202|SNOMEDCT_US:400178008|SNOMEDCT_US:254836000|NCIT:C8965|SNOMEDCT_US:253057002|SNOMEDCT_US:69044001 doelkens 2011-06-07T10:41:13Z human_phenotype owl:Class HP:0010566 biolink:NamedThing Hamartoma A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. tmpxe7fu0cj_hp_relaxed.owl MSH:D006222|SNOMEDCT_US:51398009|SNOMEDCT_US:400006008|UMLS:C0018552 sandra1 2009-10-16T02:51:16Z human_phenotype owl:Class UBERON:0000361 biolink:NamedThing red bone marrow The red vascular substance consisting of connective tissue and blood vessels, containing primitive blood cells, macrophages, megakaryocytes, and fat cells. Red marrow is found in the cavities of many bones. It manufactures and releases leukocytes and erythrocytes into the bloodstream. tmpxe7fu0cj_hp_relaxed.owl red marrow|parenchymal red marrow|medulla ossium rubra|parenchyma of none marrow marrow SCTID:75330005|FMA:74595|SCTID:328538003|BTO:0001160 uberon owl:Class UBERON:0002371 biolink:NamedThing bone marrow The soft tissue that fills the cavities of bones. tmpxe7fu0cj_hp_relaxed.owl medullary bone|medulla of bone|medulla ossium|medulla ossea EFO:0000868|galen:BoneMarrow|NCIT:C12431|XAO:0000123|MA:0000134|MAT:0000084|MIAA:0000084|CALOHA:TS-0087|EMAPA:32760|MESH:D001853|BTO:0000141|GAID:1287|BTO:0000829|AAO:0011007|EV:0100046|Wikipedia:Bone_marrow|FMA:9608|UMLS:C0005953|SCTID:421320006|OpenCyc:Mx4rvVm-FpwpEbGdrcN5Y29ycA|VHOG:0001218 http://upload.wikimedia.org/wikipedia/commons/7/74/Gray72-en.svg TODO - create superclass for bone marrow / head kidney. both are portions of tissue in the hematopoetic system. also consider adding as subclass of zone of bone organ for consistency with FMA. See also: Leydig and epigonal organs|consider placement of NCIT:C53466 medullary bone uberon owl:Class The bone marrow is the hematopoietic organ in all vertebrates but fishes, in which hematopoiesis occurs in the kidney.[well established][VHOG] In adults, marrow in large bones produces new blood cells[Wikipedia:Bone_marrow] UBERON:0015108 biolink:NamedThing distal tarsal bone 3 endochondral element tmpxe7fu0cj_hp_relaxed.owl distal tarsal 3 uberon owl:Class UBERON:0015099 biolink:NamedThing distal tarsal endochondral element A distal mesopodial endochondral element that is part of a hindlimb. tmpxe7fu0cj_hp_relaxed.owl distal tarsal uberon owl:Class HP:0100028 biolink:NamedThing Ectopic thyroid Mislocalised thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Aberrant thyroid gland|Aberrant thyroid|Ectopic thyroid gland|Abnormal thryoid location|Heteropic thyroid gland MSH:D050033|SNOMEDCT_US:214660000|UMLS:C0266283 An aberrant or ectopic thyroid gland may occur anywhere along the path of initial descent of the thyroid. A total failure to descend contrasts with the incomplete descent of the thyroid, in which case the resulting final resting point of the gland may be high in the neck or just below the hyoid bone. Appart from an abnormal descent, accessory thyroid tissue can also occur, arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract. doelkens 2010-06-10T10:16:37Z human_phenotype owl:Class HP:0008188 biolink:NamedThing Thyroid dysgenesis tmpxe7fu0cj_hp_relaxed.owl Thyroid dysplasia MSH:D050033|UMLS:C1563716 human_phenotype owl:Class HP:0032306 biolink:NamedThing Increased mannose-binding protein level An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 23:29:43+00:00 peter owl:Class HP:0032304 biolink:NamedThing Abnormal mannose-binding protein level Any deviation from the normal concentration of mannose-binding protein in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 23:27:46+00:00 Mannose-binding protein is encoded by the MBL2 gene. It is a calcium-dependent lectin involved in innate immune defense and that binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. peter owl:Class HP:0033633 biolink:NamedThing Decreased alveolar volume An abnormal reduction in alveolar volume. tmpxe7fu0cj_hp_relaxed.owl 2021-02-01 13:16:28+00:00 peter owl:Class HP:0033632 biolink:NamedThing Abnormal alveolar volume Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas. tmpxe7fu0cj_hp_relaxed.owl 2021-02-01 13:14:58+00:00 Only a portion of each tidal volume (Vt) reaches the alveoli and participates in gas exchange. This is referred to as the alveolar volume (Va). The remainder, the so-called dead space volume (Vd), consists of gas that fills the upper and lower airways (anatomic dead space) or reaches nonperfused or relatively poorly perfused alveoli (alveolar dead space). peter owl:Class UBERON:0016478 biolink:NamedThing liver stroma A stroma that is part of a liver. tmpxe7fu0cj_hp_relaxed.owl hepatic stroma|stroma of liver FMA:17553 uberon owl:Class UBERON:0003891 biolink:NamedThing stroma Connective, non-functional supportive framework of a biological cell, tissue, or organ. Contrast with parenchyma. tmpxe7fu0cj_hp_relaxed.owl stromal connective tissue UMLS:C0927195|NCIT:C67387|FMA:81494 uberon owl:Class stromal HP:0002198 biolink:NamedThing Dilated fourth ventricle An abnormal dilatation of the fourth cerebral ventricle. tmpxe7fu0cj_hp_relaxed.owl Enlarged fourth ventricle UMLS:C1847117 HP:0007223 owl:Class HP:0002119 biolink:NamedThing Ventriculomegaly An increase in size of the ventricular system of the brain. tmpxe7fu0cj_hp_relaxed.owl Ventricular dilatation|Enlarged ventricles|Large cerebral ventricles and cisternae|Dilated ventricles|Dilated cerebral ventricle|Enlarged cerebral ventricles|Enlarged ventricular system|Cerebral ventricular dilatation|Dilated cerebral ventricles UMLS:C3278923 HP:0002447|HP:0007071|HP:0005691 owl:Class HP:0004257 biolink:NamedThing Delayed ossification of the trapezoid bone Formation of bone tissue of trapezoid is less than expected for age. tmpxe7fu0cj_hp_relaxed.owl Delayed maturation of the trapezoid bone UMLS:C4021668 human_phenotype owl:Class HP:0045004 biolink:NamedThing Abnormal ossification of the trapezoid bone tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022406 HPO:skoehler owl:Class HP:0009837 biolink:NamedThing Bullet-shaped distal phalanges of the hand Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped outermost finger bone of the hand UMLS:C4024189 doelkens 2009-03-11T12:10:11Z HP:0009860 human_phenotype owl:Class HP:0009832 biolink:NamedThing Abnormal distal phalanx morphology of finger Any anomaly of distal phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the outermost finger bone|Abnormal terminal phalanges of the hand|Abnormality of the distal phalanges of the hand|Abnormality of the distal phalanx of finger UMLS:C4021385 doelkens 2009-03-11T12:01:39Z HP:0005919 human_phenotype owl:Class GO:0061548 biolink:NamedThing ganglion development The process whose specific outcome is the progression of a ganglion over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl gangliogenesis|ganglia development dph 2013-07-10T08:36:12Z biological_process owl:Class GO:0048856 biolink:NamedThing anatomical structure development The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. tmpxe7fu0cj_hp_relaxed.owl development of an anatomical structure biological_process owl:Class UBERON:0004140 biolink:NamedThing primary heart field A specific region of the lateral mesoderm that will form the primary beating heart tube. In mammals the primary heart field gives rise to the left ventricle. tmpxe7fu0cj_hp_relaxed.owl FHF|first heart field|PHF|primary heart field|heart field XAO:0004185 uberon owl:Class this term denotes the primary heart field; GO:0003128 denotes the superclass of primary and secondary: specific region of the lateral mesoderm into the area which will form the primary beating heart tube[GO:0003138] CL:0011019 biolink:NamedThing mesothelial cell of epicardium A mesothelial cell that is part of the epicardium. tmpxe7fu0cj_hp_relaxed.owl owl:Class CL:0000077 biolink:NamedThing mesothelial cell A flattened epithelial cell of mesenchymal origin that lines the serous cavity. tmpxe7fu0cj_hp_relaxed.owl mesotheliocyte FMA:66773 cell owl:Class GO:0050881 biolink:NamedThing musculoskeletal movement The movement of an organism or part of an organism using mechanoreceptors, the nervous system, striated muscle and/or the skeletal system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0050879 biolink:NamedThing multicellular organismal movement Any physiological process involved in changing the position of a multicellular organism or an anatomical part of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009815 biolink:NamedThing Aplasia/hypoplasia of the extremities Absence (due to failure to form) or underdevelopment of the extremities. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped extremities|Short or absent limbs|Absent/small extremities|Shortened limbs UMLS:C0239399 doelkens 2009-02-23T05:06:40Z HP:0006497|HP:0002969 human_phenotype owl:Class HP:0040064 biolink:NamedThing Abnormality of limbs tmpxe7fu0cj_hp_relaxed.owl Abnormality of limbs|Abnormal limbs|Limb anomaly|Dysmelia UMLS:C4073131|SNOMEDCT_US:445144002|UMLS:C0239337 HPO:skoehler owl:Class HP:0032888 biolink:NamedThing Focal impaired awareness cognitive seizure with forced thinking A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032692 biolink:NamedThing Focal cognitive seizure with forced thinking A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl Forced thinking is the presence of intrusive thoughts, ideas or crowding of thoughts. This is a rare seizure type, seen in mesial parietal, posterior parahippocampal and frontal lobe seizures. peter owl:Class HP:0008443 biolink:NamedThing Spinal deformities tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:298380006|UMLS:C0575157 owl:Class HP:0000925 biolink:NamedThing Abnormality of the vertebral column Any abnormality of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the backbone|Abnormality of the vertebral column|Abnormal spine|Abnormal vertebral column|Abnormality of the spine UMLS:C4021789|UMLS:C4020882 owl:Class HP:0007441 biolink:NamedThing Hyperpigmented/hypopigmented macules tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024877 human_phenotype owl:Class HP:0009123 biolink:NamedThing Mixed hypo- and hyperpigmentation of the skin tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024584 peter 2008-04-05T11:36:00Z human_phenotype owl:Class UBERON:0010564 biolink:NamedThing manual digit 1 mesenchyme Mesenchyme that is part of a developing manual digit 1. tmpxe7fu0cj_hp_relaxed.owl fore limb digit 1 mesenchyme|hand digit 1 mesenchyme|manual digit I mesenchyme EHDAA2:0000513|EMAPA:17431 uberon owl:Class UBERON:0005257 biolink:NamedThing manual digit mesenchyme Mesenchyme that is part of a developing finger [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl fore limb digit mesenchyme|anterior limb digital ray mesenchyme|hand digit mesenchyme|finger ray mesenchyme|finger mesenchyme|manual digital ray mesenchyme VHOG:0001416|EMAPA:32645|EHDAA2:0000407 In EHDAA2, the metacarpal cartilage condensation is considered part of the digits - it might be better to call the whole structure digital ray mesenchyme/condensation uberon owl:Class HP:0032321 biolink:NamedThing Unaffected This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 11:48:40+00:00 peter owl:Class HP:0032319 biolink:NamedThing Health status Health status of a family member with respect to the disease being investigated in a proband. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 11:46:18+00:00 peter owl:Class HP:0100939 biolink:NamedThing Sclerosis of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the outermost bone of the 2nd toe UMLS:C4021919 human_phenotype owl:Class HP:0100948 biolink:NamedThing Sclerosis of distal toe phalanx An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the outermost bone of the toes|Sclerosis of the distal phalanges of the toes UMLS:C4020923 human_phenotype owl:Class UBERON:0004636 biolink:NamedThing thoracic vertebra 12 The twelfth thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl twelfth thoracic vertebra|T12 vertebra|twelfth dorsal vertebra FMA:10081|UMLS:C0459957|MA:0001449|NCIT:C33723|EMAPA:19553 elements are to be defined spatially/topologically uberon owl:Class UBERON:0002347 biolink:NamedThing thoracic vertebra A thoracic vertebra endochondral element that is composed primarily of a bone tissue. tmpxe7fu0cj_hp_relaxed.owl vertebra of thorax|dorsal vertebra|thorax vertebra|vertebra thoracica UMLS:C0039987|GAID:244|OpenCyc:Mx4rvdZIBpwpEbGdrcN5Y29ycA|NCIT:C12798|FMA:9139|MA:0000314|MESH:D013904|EMAPA:18011 http://upload.wikimedia.org/wikipedia/commons/d/d2/Gray90.png uberon owl:Class Thoracic vertebrae in all species are defined as those vertebrae which also carry a pair of ribs, and lie caudal to the cervical vertebrae. In humans, they are distinguished by the presence of facets on the sides of the bodies for articulation with the heads of the ribs, and facets on the transverse processes of all, except the eleventh and twelfth, for articulation with the tubercles of the ribs GO:2000263 biolink:NamedThing regulation of blood coagulation, extrinsic pathway Any process that modulates the frequency, rate or extent of blood coagulation, extrinsic pathway. tmpxe7fu0cj_hp_relaxed.owl mah 2010-11-23T11:44:35Z biological_process owl:Class GO:2000257 biolink:NamedThing regulation of protein activation cascade Any process that modulates the frequency, rate or extent of protein activation cascade. tmpxe7fu0cj_hp_relaxed.owl regulation of protein activitory cascade|regulation of protein activation pathway mah 2010-11-23T11:33:46Z biological_process owl:Class GO:0070954 biolink:NamedThing negative regulation of neutrophil mediated cytotoxicity Any process that decreases the frequency, rate or extent of the directed killing of a target cell by a neutrophil. tmpxe7fu0cj_hp_relaxed.owl negative regulation of neutrophil mediated cell killing|down regulation of neutrophil mediated cytotoxicity|down-regulation of neutrophil mediated cytotoxicity|downregulation of neutrophil mediated cytotoxicity|inhibition of neutrophil mediated cytotoxicity mah 2009-10-01T02:20:17Z biological_process owl:Class UBERON:0003496 biolink:NamedThing head blood vessel A blood vessel that is part of a head [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of head|blood vessel of adult head|adult head blood vessel MA:0000575|SCTID:127865000|EMAPA:36610 uberon owl:Class NBO:0000587 biolink:NamedThing tetanic spasm "A sudden, involuntary contraction of a muscle or group of muscles associated with strychnine poisoning and tetanus." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T11:09:10Z George Gkoutos behavior_ontology owl:Class NBO:0000588 biolink:NamedThing spasm "A sudden, involuntary contraction of a muscle or group of muscles." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T11:10:55Z George Gkoutos behavior_ontology owl:Class CHEBI:33566 biolink:NamedThing catechols Any compound containing an o-diphenol component. tmpxe7fu0cj_hp_relaxed.owl 1,2-benzenediols|benzene-1,2-diols|a catechol 0 C6H2O2R4 106.079 106.00548 OC1=C(O)C(*)=C(*)C(*)=C1* KEGG:C15571 CHEBI:134187|CHEBI:18862|CHEBI:13628 chebi_ontology owl:Class CHEBI:33570 biolink:NamedThing benzenediols tmpxe7fu0cj_hp_relaxed.owl CHEBI:22705|CHEBI:22711 chebi_ontology owl:Class UBERON:0009602 biolink:NamedThing left lung associated mesenchyme Mesenchyme that is part of a developing left lung. tmpxe7fu0cj_hp_relaxed.owl left lung mesenchyme EMAPA:17654|EHDAA2:0000944|EMAPA:16730 uberon owl:Class HP:0012253 biolink:NamedThing Abnormal respiratory epithelium morphology Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022991 peter 2013-04-07T09:12:48Z human_phenotype owl:Class HP:0012252 biolink:NamedThing Abnormal respiratory system morphology A structural anomaly of the respiratory system. tmpxe7fu0cj_hp_relaxed.owl Fyler:4235|UMLS:C4022992 peter 2013-04-07T09:11:09Z human_phenotype owl:Class GO:0022035 biolink:NamedThing rhombomere cell migration The movement of a cell within a rhombomere. This process is known to occur as an early step in the generation of anatomical structure from a rhombomere. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0021535 biolink:NamedThing cell migration in hindbrain The orderly movement of a cell that will reside in the hindbrain. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0033482 biolink:NamedThing Limited shoulder flexion A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 23:28:39+00:00 peter owl:Class HP:0006467 biolink:NamedThing Limited shoulder movement A limitation of the range of movement of the shoulder joint. tmpxe7fu0cj_hp_relaxed.owl Limited shoulder movement UMLS:C1851313 owl:Class UBERON:0001826 biolink:NamedThing nasal cavity mucosa The mucous membrane that lines the nasal cavity[MP]. tmpxe7fu0cj_hp_relaxed.owl tunica mucosa nasalis|nasal mucosa|mucous membrane of nose|mucosa of nose|tunica mucosa nasi GAID:302|FMA:59684|CALOHA:TS-0657|BTO:0000912|EMAPA:36026 TODO - check lining vs part of. split olfactory and nasal mucosa? uberon owl:Class HP:0001159 biolink:NamedThing Syndactyly Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". tmpxe7fu0cj_hp_relaxed.owl Webbed fingers or toes Fyler:4174|SNOMEDCT_US:373413006|MSH:D013576|UMLS:C0039075 Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip. HP:0001206|HP:0001236 human_phenotype owl:Class UBERON:0007738 biolink:NamedThing metacarpophalangeal joint of manual digit 2 A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 2. tmpxe7fu0cj_hp_relaxed.owl metacarpophalangeal joint of second finger|metacarpophalangeal joint of manual digit II|metacarpophalangeal joint of index finger|metacarpophalangeal joint of second digit of hand|metacarpo-phalangeal joint of digit 2 of fore-paw|metacarpophalangeal joint of digit 2 EMAPA:25060|FMA:35252 uberon owl:Class UBERON:0003695 biolink:NamedThing metacarpophalangeal joint The metacarpophalangeal joints (MCP) are of the condyloid kind, formed by the reception of the rounded heads of the metacarpal bones into shallow cavities on the proximal ends of the first phalanges, with the exception of that of the thumb, which presents more of the characters of a ginglymoid joint. Arthritis of the MCP is a distinguishing feature of Rheumatoid Arthritis, as opposed to the distal interphalangeal joint in osteoarthritis. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl knuckles|MP joint|articulationes metacarpophalangeae|metacarpo-phalangeal joint|metacarpal joint|metacarpal phalangeal joint|knuckle|carpometacarpophalangeal joint EMAPA:19302|MESH:A02.835.583.345.512|GAID:255|galen:MetacarpoPhalangealJoint|MA:0000453|NCIT:C33106|OpenCyc:Mx4rwNt8wJwpEbGdrcN5Y29ycA|FMA:35246|UMLS:C0025525 http://upload.wikimedia.org/wikipedia/commons/5/53/Gray337.png we follow FMA in making these joints part of digits. We include carpometacarpophalangeal joint as a synonym - these joints connect to the carpometacarpus - this is not necessarily inconsistent with the relationship for this class to metacarpal bone, as the carpometacarpus could be considered to have a metacarpal as part uberon owl:Class GO:0031117 biolink:NamedThing positive regulation of microtubule depolymerization Any process that activates or increases the frequency, rate or extent of microtubule depolymerization. tmpxe7fu0cj_hp_relaxed.owl upregulation of microtubule depolymerization|stimulation of microtubule depolymerization|up regulation of microtubule depolymerization|activation of microtubule depolymerization|positive regulation of microtubule catastrophe|microtubule destabilization|up-regulation of microtubule depolymerization|positive regulation of microtubule disassembly biological_process owl:Class GO:0009967 biolink:NamedThing positive regulation of signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction. tmpxe7fu0cj_hp_relaxed.owl activation of signal transduction|positive regulation of signaling pathway|positive regulation of signalling pathway|up regulation of signal transduction|upregulation of signal transduction|stimulation of signal transduction|up-regulation of signal transduction GO:0035468 biological_process owl:Class GO:0009966 biolink:NamedThing regulation of signal transduction Any process that modulates the frequency, rate or extent of signal transduction. tmpxe7fu0cj_hp_relaxed.owl regulation of signalling pathway|regulation of signaling pathway GO:0035466 biological_process owl:Class GO:2000700 biolink:NamedThing positive regulation of cardiac muscle cell myoblast differentiation Any process that activates or increases the frequency, rate or extent of cardiac muscle cell myoblast differentiation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of cardiac myoblast differentiation|positive regulation of myocardial precursor cell differentiation yaf 2011-05-25T09:08:09Z biological_process owl:Class GO:0045663 biolink:NamedThing positive regulation of myoblast differentiation Any process that activates or increases the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. tmpxe7fu0cj_hp_relaxed.owl up-regulation of myoblast differentiation|upregulation of myoblast differentiation|up regulation of myoblast differentiation|stimulation of myoblast differentiation|activation of myoblast differentiation biological_process owl:Class GO:0046148 biolink:NamedThing pigment biosynthetic process The chemical reactions and pathways resulting in the formation of a pigment, any general or particular coloring matter in living organisms, e.g. melanin. tmpxe7fu0cj_hp_relaxed.owl pigment formation|pigment synthesis|pigment biosynthesis|pigment anabolism biological_process owl:Class GO:0042440 biolink:NamedThing pigment metabolic process The chemical reactions and pathways involving pigment, any general or particular coloring matter in living organisms, e.g. melanin. tmpxe7fu0cj_hp_relaxed.owl pigment metabolism biological_process owl:Class GO:0072676 biolink:NamedThing lymphocyte migration The movement of a lymphocyte within or between different tissues and organs of the body. tmpxe7fu0cj_hp_relaxed.owl mah 2011-02-22T03:38:12Z biological_process owl:Class GO:0048864 biolink:NamedThing stem cell development The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0032502 biolink:NamedThing developmental process A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. tmpxe7fu0cj_hp_relaxed.owl development|single-organism developmental process jl 2012-12-19T12:21:31Z GO:0044767 biological_process owl:Class UBERON:0019241 biolink:NamedThing pedal digit 1 or 5 tmpxe7fu0cj_hp_relaxed.owl lateral pedal digit|lateral toe|outermost pedal digit|outer pedal digit uberon https://github.com/obophenotype/uberon/issues/592 owl:Class UBERON:0019221 biolink:NamedThing digit 1 or 5 Either of the outermost digits in a five-digit autopod, or their phylogenetic equivalent. tmpxe7fu0cj_hp_relaxed.owl outermost digit|outer digit|lateral digit uberon https://github.com/obophenotype/uberon/issues/592 owl:Class UBERON:0003568 biolink:NamedThing neck connective tissue A portion of connective tissue that is part of a neck [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl connective tissue of neck|portion of connective tissue of neck|neck textus connectivus|connective tissue of neck (volume)|textus connectivus of neck|neck (volume) textus connectivus|neck (volume) portion of connective tissue|neck portion of connective tissue|portion of connective tissue of neck (volume)|textus connectivus of neck (volume)|neck (volume) connective tissue EMAPA:37250|MA:0000585 uberon owl:Class UBERON:0002384 biolink:NamedThing connective tissue Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance. tmpxe7fu0cj_hp_relaxed.owl Bindegewebe|portion of connective tissue|textus connectivus ZFA:0001632|MESH:D003238|SCTID:361919005|MAT:0000301|OpenCyc:Mx4rv-aBgZwpEbGdrcN5Y29ycA|XAO:0001017|NCIT:C12374|GAID:100|BTO:0000421|MIAA:0000301|MA:0000011|AAO:0000098|CALOHA:TS-2009|FMA:9640|VSAO:0000017|galen:ConnectiveTissue|UMLS:C0009780|TAO:0001641|EMAPA:35251|EFO:0000952 uberon owl:Class One of the four types of tissue in traditional classifications. It is largely a category of exclusion rather than one with a precise definition, but there are certain characteristics shared by all or most tissues in this category, such as involvement in structure and support, derived from mesoderm, and characterized largely by the traits of non-living tissue.[AAO]|Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance.[VSAO]|Portion of tissue that consists of mesodermally derived cells and intercellular matrix comprised of protein fibers and carbohydrates, which supports, ensheathes and binds together other tissues.[TAO] MA also has set of connective tissues HP:0430011 biolink:NamedThing Defect of palpebral conjunctiva An abnormality of the palpebral conjunctiva. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021868 owl:Class HP:0000502 biolink:NamedThing Abnormal conjunctiva morphology An abnormality of the conjunctiva. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025847 The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva). human_phenotype owl:Class HP:0033408 biolink:NamedThing Elevated circulating acetoacetic acid concentration An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 16:10:08+00:00 peter owl:Class HP:0410175 biolink:NamedThing Hyperketonemia An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating ketone body concentration|Ketonemia|Increased level of ketone bodies in blood 2018-05-21 17:36:23+00:00 ORCID:0000-0001-5208-3432 owl:Class CHEBI:33937 biolink:NamedThing macronutrient Any nutrient required in large quantities by organisms throughout their life in order to orchestrate a range of physiological functions. Macronutrients are usually chemical elements (carbon, hydrogen, nitrogen, oxygen, phosphorus and sulfur) that humans consume in the largest quantities. Calcium, sodium, magnesium and potassium are sometimes included as macronutrients because they are required in relatively large quantities compared with other vitamins and minerals. tmpxe7fu0cj_hp_relaxed.owl macronutrients chebi_ontology owl:Class CHEBI:33284 biolink:NamedThing nutrient A nutrient is a food component that an organism uses to survive and grow. tmpxe7fu0cj_hp_relaxed.owl nutrients chebi_ontology owl:Class HP:0025674 biolink:NamedThing Meconium pseudocyst A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst. tmpxe7fu0cj_hp_relaxed.owl A fetal intraperitoneal cystic mass that shows high T1 and low T2 signals in prenatal magnetic resonance imaging is considered pathognomonic of meconium pseudocyst. See Figure 1 of PMID: 19293041. peterrobinson owl:Class HP:0034058 biolink:NamedThing Abnormal fetal morphology Any structural anomaly of the fetus. tmpxe7fu0cj_hp_relaxed.owl Structural fetal anomaly 2021-11-27 19:03:05+00:00 peter owl:Class HP:0002817 biolink:NamedThing Abnormality of the upper limb An abnormality of the arm. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the arm|Abnormality of the upper limb UMLS:C4020900 HP:0003838 human_phenotype owl:Class HP:0000294 biolink:NamedThing Low anterior hairline Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. tmpxe7fu0cj_hp_relaxed.owl Low frontal hairline|Low-set frontal hairline UMLS:C1842366 This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair. owl:Class HP:0000599 biolink:NamedThing Abnormality of the frontal hairline An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the frontal hairline|Abnormality of hairline at front of head UMLS:C4025839 peter 2008-02-27T05:34:00Z owl:Class CHEBI:35243 biolink:NamedThing serine zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amnio group of serine. tmpxe7fu0cj_hp_relaxed.owl serine zwitterion|2-ammonio-3-hydroxypropanoate 0 C3H7NO3 InChI=1S/C3H7NO3/c4-2(1-5)3(6)7/h2,5H,1,4H2,(H,6,7) MTCFGRXMJLQNBG-UHFFFAOYSA-N 105.09262 105.04259 [NH3+]C(CO)C([O-])=O Beilstein:3935647|Gmelin:2060272 chebi_ontology owl:Class CHEBI:35238 biolink:NamedThing amino acid zwitterion The zwitterionic form of an amino acid having a negatively charged carboxyl group and a positively charged amino group. tmpxe7fu0cj_hp_relaxed.owl amino acid zwitterion chebi_ontology owl:Class HP:0011489 biolink:NamedThing Abnormal migration of corneal endothelium Abnormal migration of corneal endothelium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023331 Can be seen in posterior polymorphous corneal dystrophy. peter 2012-04-02T10:20:17Z human_phenotype owl:Class HP:0011488 biolink:NamedThing Abnormal corneal endothelium morphology Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. tmpxe7fu0cj_hp_relaxed.owl Abnormality of corneal endothelium UMLS:C4023332 peter 2012-04-02T10:18:50Z human_phenotype owl:Class CL:0007002 biolink:NamedThing precementoblast Skeletogenic cell that has the potential to develop into a cementoblast. tmpxe7fu0cj_hp_relaxed.owl haendel 2012-06-15T04:37:13Z cell owl:Class CL:0000055 biolink:NamedThing non-terminally differentiated cell A precursor cell with a limited number of potential fates. tmpxe7fu0cj_hp_relaxed.owl blast cell BTO:0000125|FMA:84782 define using PATO mulit-potent or oligopotent? cell owl:Class CL:0000790 biolink:NamedThing immature alpha-beta T cell An alpha-beta T cell that has an immature phenotype and has not completed T cell selection. tmpxe7fu0cj_hp_relaxed.owl immature alpha-beta T-lymphocyte|immature alpha-beta T-cell|immature alpha-beta T lymphocyte cell owl:Class CL:0000789 biolink:NamedThing alpha-beta T cell A T cell that expresses an alpha-beta T cell receptor complex. tmpxe7fu0cj_hp_relaxed.owl alpha-beta T-lymphocyte|alpha-beta T lymphocyte|alpha-beta T-cell cell owl:Class PR:000017477 biolink:NamedThing xanthine dehydrogenase/oxidase A protein that is a translation product of the human XDH gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl XDH|XDHA IUPHARobj:2646 Category=gene. protein owl:Class HP:0100272 biolink:NamedThing Branchial sinus A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal. tmpxe7fu0cj_hp_relaxed.owl Branchial cleft sinus UMLS:C0266624|SNOMEDCT_US:253259008 Branchial sinuses have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear. doelkens 2010-07-27T10:10:03Z human_phenotype owl:Class HP:0009794 biolink:NamedThing Branchial anomaly Congenital developmental defect arising from the primitive branchial apparatus. tmpxe7fu0cj_hp_relaxed.owl Branchial abnormality|Abnormality of branchial apparatus|Branchial anomalies|Abnormality of branchial arch UMLS:C1862066 During embryonic development the major head and neck structures are formed from the five pharyngeal arches (bands of tissue). Incomplete, failed or persistent embryonic development of these arches results in several anomalies or defects in the neck. peter 2009-02-11T05:16:20Z owl:Class HP:0007595 biolink:NamedThing Redundant skin in infancy tmpxe7fu0cj_hp_relaxed.owl Excess skin in infancy UMLS:C1835587 human_phenotype owl:Class HP:0001582 biolink:NamedThing Redundant skin Loose and sagging skin often associated with loss of skin elasticity. tmpxe7fu0cj_hp_relaxed.owl Sagging, redundant skin|Redundant skin folds|Loose redundant skin SNOMEDCT_US:201093004|UMLS:C0581342 HP:0007391 human_phenotype owl:Class UBERON:0003827 biolink:NamedThing thoracic segment bone A bone that is part of a thorax [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bone organ of thorax|upper body bone|thorax bone|bone of thorax|thorax bone organ EMAPA:37247|SCTID:426649006|MA:0000559 uberon owl:Class UBERON:0006615 biolink:NamedThing venous sinus A large vein or channel for the circulation of venous blood. tmpxe7fu0cj_hp_relaxed.owl blood sinus MA:0000070|ZFA:0007072|UMLS:C0226504|NCIT:C12877 check if it is valid to group ZFA class here. uberon owl:Class UBERON:0003920 biolink:NamedThing venous blood vessel A blood vessel that carries blood from the capillaries toward the heart. tmpxe7fu0cj_hp_relaxed.owl segment of venous tree organ|venous tree organ segment FMA:86188|EMAPA:35932|MA:0000066 Compare to: vein uberon owl:Class GO:1904412 biolink:NamedThing regulation of cardiac ventricle development Any process that modulates the frequency, rate or extent of cardiac ventricle development. tmpxe7fu0cj_hp_relaxed.owl sl 2015-06-25T19:52:15Z biological_process owl:Class GO:0050793 biolink:NamedThing regulation of developmental process Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0048288 biolink:NamedThing nuclear membrane fusion involved in karyogamy The joining of 2 or more lipid bilayer membranes that surround the nucleus during the creation of a single nucleus from multiple nuclei. tmpxe7fu0cj_hp_relaxed.owl nuclear membrane fusion during karyogamy biological_process owl:Class GO:0000740 biolink:NamedThing nuclear membrane fusion The joining of 2 or more lipid bilayer membranes that surround the nucleus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0018408 biolink:NamedThing infra-orbital nerve A branch of the maxillary nerve that enters the infraorbital canal and innervates the lower eyelid, upper lip, the nasal vestibule, the upper incisors, canines, premolars, upper gums, lower eyelid and conjunctiva, and part of the nose. tmpxe7fu0cj_hp_relaxed.owl infra-orbital nerve|infraorbital nerve|infraorbital portion FMA:52978 uberon owl:Class UBERON:0011779 biolink:NamedThing nerve of head region A nerve that is part of a head. tmpxe7fu0cj_hp_relaxed.owl head nerve|cephalic nerve uberon owl:Class HP:0003466 biolink:NamedThing Paradoxical increased cortisol secretion on dexamethasone suppression test tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968855 human_phenotype owl:Class HP:0011731 biolink:NamedThing Abnormality of circulating cortisol level An abnormality of the concentration of cortisol in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023214 peter 2012-04-21T07:59:26Z human_phenotype owl:Class HP:0010056 biolink:NamedThing Abnormality of the epiphyses of the hallux tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the big toe bone UMLS:C4024081 doelkens 2009-05-29T12:00:08Z human_phenotype owl:Class HP:0001844 biolink:NamedThing Abnormality of the hallux This term applies for all abnormalities of the big toe, also called hallux. tmpxe7fu0cj_hp_relaxed.owl Abnormalities of the hallux|Abnormality of the big toe UMLS:C4021773 human_phenotype owl:Class GO:0031453 biolink:NamedThing positive regulation of heterochromatin assembly Any process that activates or increases the frequency, rate or extent of heterochromatin formation. tmpxe7fu0cj_hp_relaxed.owl up regulation of heterochromatin formation|activation of heterochromatin formation|upregulation of heterochromatin formation|stimulation of heterochromatin formation|positive regulation of heterochromatin formation|up-regulation of heterochromatin formation biological_process owl:Class GO:0031445 biolink:NamedThing regulation of heterochromatin assembly Any process that modulates the frequency, rate, extent or location of heterochromatin formation. tmpxe7fu0cj_hp_relaxed.owl regulation of heterochromatin formation biological_process owl:Class HP:0001117 biolink:NamedThing Sudden loss of visual acuity Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy. tmpxe7fu0cj_hp_relaxed.owl Sudden decrease in vision|Sudden central visual loss UMLS:C4072828|UMLS:C4280600|UMLS:C4025803 human_phenotype owl:Class HP:0007663 biolink:NamedThing Reduced visual acuity tmpxe7fu0cj_hp_relaxed.owl Decreased visual acuity|Decreased clarity of vision|Decreased central vision|Poor visual acuity UMLS:C0234632|SNOMEDCT_US:13164000 HP:0007693|HP:0007739|HP:0008008|HP:0001091|HP:0007969 owl:Class GO:1900016 biolink:NamedThing negative regulation of cytokine production involved in inflammatory response Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response. tmpxe7fu0cj_hp_relaxed.owl down regulation of cytokine production involved in inflammatory response|down regulation of cytokine production involved in acute inflammatory response|negative regulation of cytokine production involved in acute inflammatory response rph 2012-01-11T09:34:31Z biological_process owl:Class GO:0001818 biolink:NamedThing negative regulation of cytokine production Any process that stops, prevents, or reduces the rate of production of a cytokine. tmpxe7fu0cj_hp_relaxed.owl negative regulation of cytokine formation|down-regulation of cytokine production|inhibition of cytokine production|downregulation of cytokine biosynthetic process|downregulation of cytokine production|negative regulation of cytokine biosynthetic process|down regulation of cytokine production|negative regulation of cytokine secretion|down regulation of cytokine biosynthetic process|inhibition of cytokine biosynthetic process|negative regulation of cytokine biosynthesis|negative regulation of cytokine synthesis|negative regulation of cytokine anabolism|down-regulation of cytokine biosynthetic process GO:0050710|GO:0042036 biological_process owl:Class GO:0099503 biolink:NamedThing secretory vesicle A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:0031982 biolink:NamedThing vesicle Any small, fluid-filled, spherical organelle enclosed by membrane. tmpxe7fu0cj_hp_relaxed.owl membrane-bounded vesicle|membrane-enclosed vesicle Wikipedia:Vesicle_(biology)|NIF_Subcellular:sao221389602 GO:0031988 cellular_component owl:Class HP:0020084 biolink:NamedThing Carbuncle A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 17:02:42+00:00 robinp owl:Class HP:0025084 biolink:NamedThing Folliculitis Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule. tmpxe7fu0cj_hp_relaxed.owl Follicular pustule 2016-10-15 13:35:26+00:00 In contrast to folliculitis, perifolliculitis refers to inflammatory cells, usually lymphocytes, within the perifollicular tissues with focal extension into the adjacent reticular dermis. Folliculitis and perifolliculitis can occur independently or incombination owing to follicular disruption and irritation. HPO:probinson owl:Class HP:0032747 biolink:NamedThing Focal impaired awareness emotional seizure with pleasure Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032729 biolink:NamedThing Focal emotional seizure with pleasure Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy. tmpxe7fu0cj_hp_relaxed.owl This is a rare seizure type, seen in seizures arising in the anterior insular cortex. peter owl:Class GO:0050806 biolink:NamedThing positive regulation of synaptic transmission Any process that activates or increases the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. tmpxe7fu0cj_hp_relaxed.owl up regulation of synaptic transmission|stimulation of synaptic transmission|upregulation of synaptic transmission|up-regulation of synaptic transmission|activation of synaptic transmission biological_process owl:Class GO:0010647 biolink:NamedThing positive regulation of cell communication Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0005903 biolink:NamedThing duct of seminal vesicle Each seminal vesicle consists of a single tube, coiled upon itself, and giving off several irregular cecal diverticula; the separate coils, as well as the diverticula, are connected together by fibrous tissue. When uncoiled, the tube is about the diameter of a quill, and varies in length from 10 to 15 cm.; it ends posteriorly in a cul-de-sac; its anterior extremity becomes constricted into a narrow straight duct called the excretory duct of seminal gland (or duct of the seminal vesicle), which joins with the corresponding ductus deferens to form the ejaculatory duct[WP]. tmpxe7fu0cj_hp_relaxed.owl ductus excretorius (vesicula seminalis)|ductus excretorius glandulae vesiculosae|seminal vesicle duct|excretory duct of seminal gland FMA:19473|EMAPA:29282 http://upload.wikimedia.org/wikipedia/commons/9/97/Gray1160.png uberon owl:Class UBERON:0005904 biolink:NamedThing duct of male reproductive system Any of the ducts that are part of a male reproductive system. tmpxe7fu0cj_hp_relaxed.owl this class groups the individual ducts in a variety of species uberon owl:Class UBERON:0004328 biolink:NamedThing proximal phalanx of manual digit 2 A proximal phalanx that is part of a hand digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl 2nd finger proximal phalanx|manual phalanx II-1|proximal phalanx of index finger|second proximal phalanx of hand|proximal phalanx of 2nd digit of hand|proximal phalanx of second finger|proximal phalanx of manual digit II|proximal phalanx of second digit of hand|proximal phalanx of 2nd finger|second finger proximal phalanx|2nd digit of hand proximal phalanx|manual digit 2 proximal phalanx|hand digit 2 proximal phalanx FMA:23919 uberon owl:Class UBERON:0014502 biolink:NamedThing proximal phalanx of digit 2 A proximal phalanx that is part of a autopod digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal phalanx of 2nd digit|proximal phalanx of second digit|proximal phalanx of index digit|2nd digit of autopod proximal phalanx|proximal phalanx of digit II|proximal phalanx of 2nd digit of autopod|digit II-1|second digit proximal phalanx|proximal phalanx of second digit of autopod|second proximal phalanx of autopod|digit IU P1|2nd digit proximal phalanx|autopod digit 2 proximal phalanx uberon owl:Class HP:0004255 biolink:NamedThing Small trapezium Underdevelopment of the trapezium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025389 human_phenotype owl:Class HP:0004252 biolink:NamedThing Abnormality of the trapezium An anomaly of trapezium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025390 human_phenotype owl:Class HP:0009966 biolink:NamedThing Complete duplication of the middle phalanx of the 3rd finger Complete duplication of the middle phalanx of middle finger. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the middle bone of the middle finger UMLS:C4024140 doelkens 2009-05-26T12:49:35Z human_phenotype owl:Class HP:0010002 biolink:NamedThing Complete duplication of the middle phalanges of the hand A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the middle bones of the hand UMLS:C4024117 doelkens 2009-05-26T03:55:02Z human_phenotype owl:Class HP:0010161 biolink:NamedThing Abnormality of the phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Abnormality of the long bones of the toes UMLS:C4023998 doelkens 2009-05-29T01:31:17Z human_phenotype owl:Class HP:0034116 biolink:NamedThing Anti-thyrotropin receptor antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thyrotropin receptor antibody. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 15:25:43+00:00 peter owl:Class UBERON:0002294 biolink:NamedThing biliary system Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree). tmpxe7fu0cj_hp_relaxed.owl biliary tract|biliary apparatus GAID:279|FMA:79646|MA:0001273|NCIT:C12678|MESH:D001659 http://upload.wikimedia.org/wikipedia/commons/5/5d/Digestive_system_showing_bile_duct.png uberon owl:Class UBERON:0011216 biolink:NamedThing organ system subdivision A subdivision of an anatomical system. tmpxe7fu0cj_hp_relaxed.owl FMA:67509|FBbt:00007330|SCTID:91690000 uberon owl:Class HP:0033834 biolink:NamedThing Malaise A feeling of general discomfort, weakness, or lack of health. tmpxe7fu0cj_hp_relaxed.owl 2021-05-16 15:40:30+00:00 peter owl:Class HP:0025142 biolink:NamedThing Constitutional symptom A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. tmpxe7fu0cj_hp_relaxed.owl 2016-11-29 11:02:54+00:00 Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting. HPO:probinson owl:Class CHEBI:25362 biolink:NamedThing elemental molecule A molecule all atoms of which have the same atomic number. tmpxe7fu0cj_hp_relaxed.owl homoatomic molecule|homoatomic molecules chebi_ontology owl:Class CHEBI:33259 biolink:NamedThing elemental molecular entity A molecular entity all atoms of which have the same atomic number. tmpxe7fu0cj_hp_relaxed.owl homoatomic molecular entities|homoatomic molecular entity|homoatomic entity chebi_ontology owl:Class GO:0051253 biolink:NamedThing negative regulation of RNA metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving RNA. tmpxe7fu0cj_hp_relaxed.owl negative regulation of RNA metabolism|down-regulation of RNA metabolic process|down regulation of RNA metabolic process|downregulation of RNA metabolic process|inhibition of RNA metabolic process biological_process owl:Class GO:0051252 biolink:NamedThing regulation of RNA metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA. tmpxe7fu0cj_hp_relaxed.owl regulation of RNA metabolism biological_process owl:Class CL:1000492 biolink:NamedThing mesothelial cell of parietal pleura A mesothelial cell that is part of the parietal pleura. tmpxe7fu0cj_hp_relaxed.owl FMA:86738 cell owl:Class CL:1000491 biolink:NamedThing mesothelial cell of pleura A mesothelial cell that is part of the pleura. tmpxe7fu0cj_hp_relaxed.owl pleural mesothelial cell FMA:86737 cell owl:Class HP:0005684 biolink:NamedThing Distal arthrogryposis An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0265213|SNOMEDCT_US:24269006 human_phenotype owl:Class HP:0002803 biolink:NamedThing Congenital contracture One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. tmpxe7fu0cj_hp_relaxed.owl congenital contractures|Congenital joint contractures UMLS:C0332878 human_phenotype owl:Class GO:0008272 biolink:NamedThing sulfate transport The directed movement of sulfate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl sulphate transport GO:0006870 biological_process owl:Class GO:0015698 biolink:NamedThing inorganic anion transport The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001835 biolink:NamedThing lower lip Lip that covers the lower portion of the mouth.[TAO]. tmpxe7fu0cj_hp_relaxed.owl lower jaw lip|labium inferius oris ZFA:0005225|EMAPA:17909|NCIT:C94572|UMLS:C0458583|FMA:59818|MA:0000921|OpenCyc:Mx4rv842UpwpEbGdrcN5Y29ycA|SCTID:245777007|TAO:0002060|EHDAA2:0001020|Wikipedia:Lower_lip http://upload.wikimedia.org/wikipedia/commons/9/99/Mouth.jpg UBERON:0003392 uberon owl:Class Lip that covers the lower portion of the mouth.[TAO] UBERON:0001833 biolink:NamedThing lip One of the two fleshy folds which surround the opening of the mouth. tmpxe7fu0cj_hp_relaxed.owl lips|labia oris FMA:59816|Wikipedia:Lip|GAID:76|ZFA:0007006|BTO:0001647|MA:0000343|SCTID:181221003|galen:Lip|MESH:D008046|CALOHA:TS-0558|TAO:0007006|EMAPA:32839|OpenCyc:Mx4rvVi4U5wpEbGdrcN5Y29ycA|NCIT:C12220|VHOG:0000677|UMLS:C0023759 http://upload.wikimedia.org/wikipedia/commons/9/90/Lips.JPG|http://upload.wikimedia.org/wikipedia/commons/9/99/Mouth.jpg uberon owl:Class Surface structure that is one of the two fleshy folds surrounding the opening of the mouth.[TAO] labial HP:0006628 biolink:NamedThing Absent sternal ossification Lack of formation of mineralized bony tissue of the sternum. tmpxe7fu0cj_hp_relaxed.owl Absent sternal mineralization|Lack of sternal ossification|Absent bone maturation in sternum UMLS:C1857074|UMLS:C4280443 HP:0006666|HP:0006654 human_phenotype owl:Class HP:0006714 biolink:NamedThing Aplasia/Hypoplasia of the sternum tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped sternum|Absent/small sternum UMLS:C4024990 peter 2008-03-29T04:01:00Z human_phenotype owl:Class UBERON:0016879 biolink:NamedThing future central nervous system Primordium that develops into the central nervous system. tmpxe7fu0cj_hp_relaxed.owl presumptive central nervous system|future CNS UBERON:3000469 uberon owl:Class GO:0090278 biolink:NamedThing negative regulation of peptide hormone secretion Any process that decreases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. tmpxe7fu0cj_hp_relaxed.owl tb 2010-02-05T02:56:39Z biological_process owl:Class GO:0002792 biolink:NamedThing negative regulation of peptide secretion Any process that stops, prevents, or reduces the frequency, rate, or extent of peptide secretion. tmpxe7fu0cj_hp_relaxed.owl down-regulation of peptide secretion|downregulation of peptide secretion|inhibition of peptide secretion|down regulation of peptide secretion biological_process owl:Class HP:0010376 biolink:NamedThing Patchy sclerosis of 4th toe phalanx Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Patchy sclerosis of the phalanges of the 4th toe|Uneven increase in bone density in 4th toe bone UMLS:C4021279 doelkens 2009-07-16T11:51:46Z human_phenotype owl:Class HP:0100928 biolink:NamedThing Sclerosis of 4th toe phalanx An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in 4th toe bone|Sclerosis of the phalanges of the 4th toe UMLS:C4020928 human_phenotype owl:Class GO:1901509 biolink:NamedThing regulation of endothelial tube morphogenesis Any process that modulates the frequency, rate or extent of endothelial tube morphogenesis. tmpxe7fu0cj_hp_relaxed.owl dph 2012-10-17T14:30:40Z biological_process owl:Class GO:1905330 biolink:NamedThing regulation of morphogenesis of an epithelium Any process that modulates the frequency, rate or extent of morphogenesis of an epithelium. tmpxe7fu0cj_hp_relaxed.owl regulation of epithelium morphogenesis An example of this is MMRN2 in human (Q9H8L6) in PMID:25745997 (inferred from direct assay). bhm 2016-07-22T07:13:49Z biological_process owl:Class UBERON:0011594 biolink:NamedThing dentary tooth Tooth that is attached to a dentary/mandible[TAO,modified]. tmpxe7fu0cj_hp_relaxed.owl mandibular tooth|mandibular teeth|tooth of dentary FMA:321647|AAO:0000125|AAO:0000641|TAO:0001628 Note that we treat dentary tooth and mandibular tooth as equivalent uberon owl:Class Tooth that is attached to the dentary.[TAO] relationship loss: part_of dentary tooth row (TAO:0001952)[TAO] UBERON:0003268 biolink:NamedThing tooth of lower jaw A calcareous tooth that is part of the lower jaw region. In mammals, the lower jaw teeth are attached to the mandible (dentary). tmpxe7fu0cj_hp_relaxed.owl calcareous tooth of lower jaw|lower jaw calcareous tooth|mandibular tooth|lower jaw tooth|lower jaw vertebrate tooth|lower jaw dentine containing tooth EMAPA:17917|NCIT:C49582|EHDAA2:0001029|EHDAA:8009|FMA:321647|UMLS:C1708757|MA:0001907 uberon owl:Class HP:0009518 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the middle long bone of the index finger UMLS:C4024315 doelkens 2009-01-16T01:12:17Z human_phenotype owl:Class HP:0009500 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Epiphyseal abnormality of middle phalanx of the 2nd finger|Abnormality of end part of the middle bone of the index finger UMLS:C4021463 doelkens 2009-01-16T01:08:35Z HP:0004135 human_phenotype owl:Class GO:0110125 biolink:NamedThing negative regulation of myotube cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of myotube cell migration. tmpxe7fu0cj_hp_relaxed.owl kmv 2018-08-22T21:12:47Z biological_process owl:Class GO:0110123 biolink:NamedThing regulation of myotube cell migration Any process that modulates the frequency, rate or extent of myotube cell migration. tmpxe7fu0cj_hp_relaxed.owl kmv 2018-08-22T21:06:53Z biological_process owl:Class UBERON:0001000 biolink:NamedThing vas deferens A secretory duct that transports sperm from the testis. In mammals this is a continuation of the epididymis and ends in the prostatic urethra where it terminates to form ejaculatory duct. tmpxe7fu0cj_hp_relaxed.owl vas deferen|deferent duct|ductus deferens|sperm duct|vasa deferentia FMA:19234|EMAPA:18681|MA:0000413|BTO:0001427|NCIT:C12813|EFO:0000981|MESH:D014649|EV:0100105|galen:VasDeferens|OpenCyc:Mx4rvjv7bpwpEbGdrcN5Y29ycA|MIAA:0000129|GAID:404|VHOG:0001135|UMLS:C0042360|CALOHA:TS-1105 http://upload.wikimedia.org/wikipedia/commons/d/d1/Male_anatomy_en.svg uberon owl:Class The continuation of the archinephric duct, now called the deferent duct, extends caudally to the cloaca or to the part of the mammalian urethra that is derived from the cloaca.[well established][VHOG] Most vertebrates have some form of duct to transfer the sperm from the testes to the urethra. In cartilaginous fish and amphibians, sperm is carried through the archinephric duct, which also partially helps to transport urine from the kidneys. In teleosts, there is a distinct sperm duct, separate from the ureters, and often called the vas deferens, although probably not truly homologous with that in humans. In cartilaginous fishes, the part of the archinephric duct closest to the testis is coiled up to form an epididymis. Below this are a number of small glands secreting components of the seminal fluid. The final portion of the duct also receives ducts from the kidneys in most species. In amniotes, however, the archinephric duct has become a true vas deferens, and is used only for conducting sperm, never urine. As in cartilaginous fish, the upper part of the duct forms the epididymis. In many species, the vas deferens ends in a small sac for storing sperm. The only vertebrates to lack any structure resembling a vas deferens are the primitive jawless fishes, which release sperm directly into the body cavity, and then into the surrounding water through a simple opening in the body wall. HP:0040164 biolink:NamedThing Lipomas of eyelids Fatty tumors on the eyelids. tmpxe7fu0cj_hp_relaxed.owl Fatty tumors on the eyelids|Fatty tumours on the eyelids UMLS:C4073133 Eyelid lipomas owl:Class HP:0012032 biolink:NamedThing Lipoma Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous. tmpxe7fu0cj_hp_relaxed.owl Fatty lump|Noncancerous fatty lump MSH:D008067|UMLS:C0023798|MEDDRA:10024612|MPATH:417|SNOMEDCT_US:93163002|SNOMEDCT_US:46720004 peter 2012-07-27T01:33:13Z owl:Class UBERON:0003510 biolink:NamedThing eyelid blood vessel A blood vessel that is part of a eyelid [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of blepharon|blepharon blood vessel|blood vessel of eyelid EMAPA:37388|MA:0001250 uberon owl:Class HP:0040320 biolink:NamedThing Red-brown urine An abnormal red-brown color of the urine. tmpxe7fu0cj_hp_relaxed.owl red brown urine http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean ORCID:0000-0002-5316-1399 owl:Class HP:0012086 biolink:NamedThing Abnormal urinary color An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color. tmpxe7fu0cj_hp_relaxed.owl Abnormal urine color|Abnormal urinary color|Abnormal urine colour|Abnormal urinary colour SNOMEDCT_US:167239007|UMLS:C0522153|SNOMEDCT_US:102867009 peter 2012-08-20T09:12:30Z human_phenotype owl:Class HP:0008656 biolink:NamedThing Incomplete male pseudohermaphroditism tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024645 human_phenotype owl:Class HP:0000037 biolink:NamedThing Male pseudohermaphroditism Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. tmpxe7fu0cj_hp_relaxed.owl MSH:D058490|SNOMEDCT_US:111332007|UMLS:C0238395 human_phenotype owl:Class UBERON:0004338 biolink:NamedThing proximal phalanx of manual digit 1 A proximal phalanx that is part of a hand digit 1 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl manual digit 1 proximal phalanx|manual phalanx I-1|proximal phalanx of thumb|thumb proximal|proximal phalanx of manual digit I|proximal phalanx of first digit of hand|first proximal phalanx of hand FMA:23918 uberon owl:Class UBERON:0014501 biolink:NamedThing proximal phalanx of digit 1 A proximal phalanx that is part of a autopod digit 1 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal phalanx of first digit of autopod|first proximal phalanx of autopod|proximal phalanx of digit I|digit I P1|digit I-1 uberon owl:Class GO:0048146 biolink:NamedThing positive regulation of fibroblast proliferation Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells. tmpxe7fu0cj_hp_relaxed.owl up regulation of fibroblast proliferation|activation of fibroblast proliferation|upregulation of fibroblast proliferation|up-regulation of fibroblast proliferation|stimulation of fibroblast proliferation biological_process owl:Class HP:0010286 biolink:NamedThing Abnormal salivary gland morphology Any abnormality of the salivary glands, the exocrine glands that produce saliva. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the salivary glands|Salivary gland disease MSH:D012466|SNOMEDCT_US:10890000|UMLS:C0036093|UMLS:C0149772 peter 2009-07-12T10:38:51Z human_phenotype owl:Class HP:0000163 biolink:NamedThing Abnormal oral cavity morphology Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the oral cavity UMLS:C4025887 human_phenotype owl:Class UBERON:0003063 biolink:NamedThing prechordal plate A horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue. tmpxe7fu0cj_hp_relaxed.owl head mesenchyme|head mesoderm VHOG:0000086|XAO:0000079|TAO:0000060|ZFA:0000060|EHDAA2:0001493|FMA:295532|Wikipedia:Prechordal_plate|AAO:0011085|EHDAA:181 TODO - check; developmental relationship to anterior hypoblast in ZFA? UBERON:0004881 uberon owl:Class Axial mesoderm that lies anterior to the notochord and that underlies the forebrain. [Amphioxus_goosecoid_and_the_evolution_of_the_head_organizer_and_prechordal_plate._Evolution_and_Development_(2008)_2(6):303-310, Neidert_AH, Panopoulou_G_and_Langeland_JA][VHOG]|Axial hypoblast located anterior to the chorda mesoderm; the polster is its most anterior region. Kimmel et al, 1995.[TAO] There are two opposing models that can potentially explain the differences in gsc (goosecoid) expression between amphioxus and vertebrates. In one model, the vertebrate gsc expression pattern more closely resembles the common ancestral state and the amphioxus gsc expression pattern is a derivation associated with its unique morphology. (...) In an alternate model, the amphioxus gsc expression pattern most closely represents the common ancestral state and the vertebrate pattern is derived. This model suggests that the evolution of vertebrates was accompanied by the segregation of gsc expression, from a more general domain underlying the entire brain anlage to a distinct forebrain organizer domain and subsequent prechordal plate. We feel this second model is more parsimonious than the first model in that what would be novel anterior gsc expression in vertebrates directly correlates with a novel vertebrate anterior structure, the prechordal plate.[well established][VHOG] HP:0009395 biolink:NamedThing Cone-shaped epiphyses of the 4th finger A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the ring finger bones UMLS:C4024395 doelkens 2009-01-13T01:59:12Z human_phenotype owl:Class HP:0010230 biolink:NamedThing Cone-shaped epiphyses of the phalanges of the hand A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of finger bones|Cone-shaped epiphyses of phalanges|Cone-shaped phalangeal epiphyses|Coned epiphyses|Cone-shaped epiphyses of hand|Conical phalangeal epiphyses|Cone-shaped epiphyses of the fingers|Coned epiphyses of hands|Phalangeal cone-shaped epiphyses UMLS:C1859480 doelkens 2009-07-06T03:31:52Z HP:0003766|HP:0001242|HP:0005803|HP:0001207|HP:0009361|HP:0001175 human_phenotype owl:Class HP:0004240 biolink:NamedThing Sclerotic foci within carpal bones tmpxe7fu0cj_hp_relaxed.owl Stiffened spots within wrist bones|Hardened spots within wrist bones UMLS:C4025398|UMLS:C4280535 human_phenotype owl:Class UBERON:0001094 biolink:NamedThing sacral vertebra A vertebra bone that is part of the sacral region of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl segment of sacrum|sacral segment MA:0000313|galen:SacralVertebra|NCIT:C12853|XAO:0003078|UMLS:C1261045|AAO:0000552|OpenCyc:Mx4rv-ZsXpwpEbGdrcN5Y29ycA|FMA:12526|EMAPA:18336 todo - AAO placement to be confirmed by AAO curators (the AAO class may also include modified ribs) uberon owl:Class Enlarged vertebra with transverse processes (diapophyses), and ocassionally ribs, that are modified and elaborated for support of the pelvic girdle.[AAO] UBERON:0002412 biolink:NamedThing vertebra The ossified form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl vertebrae|vertebra bone TAO:0001189|CALOHA:TS-2352|ZFA:0001189|AAO:0000691|XAO:0004019|EFO:0001371|UMLS:C0549207|OpenCyc:Mx4rvt2Dh5wpEbGdrcN5Y29ycA|FMA:9914|NCIT:C12933|galen:Vertebra|MA:0000309|EMAPA:32740 we follow FMA in making this an irregular bone - however vertebra have 'epiphyses' which are currently classified as belonging to long bones|Consider changing name to make distinction from inferred superclass 'vertebral element' clear uberon owl:Class Endochondral bone that forms around the notochord and is part of the vertebral column.[TAO]|Main component of the vertebral column. It consists of two essential parts, a dorsal neural arch and a ventral centrum.[AAO] HP:0025190 biolink:NamedThing Bilateral tonic-clonic seizure with generalized onset A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. tmpxe7fu0cj_hp_relaxed.owl Generalised-onset tonic-clonic seizure|Bilateral tonic-clonic seizure with generalised onset|Generalized-onset tonic-clonic seizure|Generalised tonic-clonic seizure without focal onset|Primary generalized tonic-clonic seizure|Primarily generalised tonic-clonic seizures|Generalized tonic-clonic seizure without partial onset|Primary generalised tonic-clonic seizures|Generalized tonic-clonic seizure without focal onset|Generalised tonic-clonic seizure without partial onset|Generalised tonic-clonic seizures without focal onset|Primarily generalized tonic-clonic seizures|Primary generalised tonic-clonic seizure|Primary generalized tonic-clonic seizures|Generalized tonic-clonic seizures without focal onset 2016-12-04 22:50:21+00:00 HPO:probinson owl:Class HP:0032677 biolink:NamedThing Generalized-onset motor seizure A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. tmpxe7fu0cj_hp_relaxed.owl Generalized onset motor seizure|Generalised-onset motor seizure|Generalised onset motor seizure peter owl:Class HP:0012809 biolink:NamedThing Narrow nasal base Decreased distance between the attachments of the alae nasi to the face. tmpxe7fu0cj_hp_relaxed.owl Decreased width of base of nose|Thin nasal base|Narrow base of nose|Narrow nasal base|Decreased width of nasal base|Thin base of nose UMLS:C4022717 There is a marked difference in width of the nasal base depending on ethnic background. hecht 2014-05-25T05:58:16Z human_phenotype owl:Class HP:0012808 biolink:NamedThing Abnormal nasal base An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face. tmpxe7fu0cj_hp_relaxed.owl Anomaly of base of nose|Deformity of base of nose|Abnormal nasal base|Malformation of nasal base|Abnormality of base of nose|Anomaly of nasal base|Malformation of base of nose|Deformity of nasal base UMLS:C4022718 hecht 2014-05-25T05:56:47Z human_phenotype owl:Class PR:P10696 biolink:NamedThing alkaline phosphatase, germ cell type (human) An alkaline phosphatase, germ cell type that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl GCAP (human)|PLAP-like (human)|placental alkaline phosphatase-like (human)|alkaline phosphatase, placental-like (human)|germ cell alkaline phosphatase (human)|hALPG|ALP-1 (human)|ALPPL2|ALPG|ALPPL|alkaline phosphatase Nagao isozyme (human) UniProtKB:P10696 Category=organism-gene. protein owl:Class PR:000003970 biolink:NamedThing alkaline phosphatase, germ cell type A protein that is a translation product of the human ALPG gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl PLAP-like|alkaline phosphatase, placental-like|ALPG|germ cell alkaline phosphatase|placental alkaline phosphatase-like|ALPPL2|ALP-1|ALPPL|GCAP|alkaline phosphatase Nagao isozyme Category=gene. protein owl:Class HP:0009878 biolink:NamedThing Cerebellar ataxia associated with quadrupedal gait The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024175 2009-03-28T05:22:45Z human_phenotype owl:Class HP:0031150 biolink:NamedThing Vitreomacular adhesion Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions. tmpxe7fu0cj_hp_relaxed.owl VMA 2017-06-18 13:09:52+00:00 peter owl:Class HP:0001103 biolink:NamedThing Abnormal macular morphology A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the macula|Macula abnormality|Macular abnormality SNOMEDCT_US:312999006|UMLS:C0730362 The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light. human_phenotype owl:Class GO:0030003 biolink:NamedThing cellular cation homeostasis Any process involved in the maintenance of an internal steady state of cations at the level of a cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0006873 biolink:NamedThing cellular ion homeostasis Any process involved in the maintenance of an internal steady state of ions at the level of a cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0031382 biolink:NamedThing Decreased lymphocyte proliferation in response to anti-CD3 A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3. tmpxe7fu0cj_hp_relaxed.owl Defective lymphocyte proliferation to anti-CD3|Defective proliferation of lymphocytes following anti-CD3 stimulation 2017-09-02 15:57:46+00:00 peter owl:Class HP:0031381 biolink:NamedThing Decreased lymphocyte proliferation in response to mitogen A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA). tmpxe7fu0cj_hp_relaxed.owl Reduced lymphocyte proliferation to mitogen 2017-09-02 15:57:05+00:00 peter owl:Class HP:0033144 biolink:NamedThing Abnormal circulating ceruloplasmin concentration Any deviation of the concentration of ceruloplasmin in the blood from the normal range. tmpxe7fu0cj_hp_relaxed.owl 2020-09-15 11:10:40+00:00 Ceruloplasmin is a serum ferroxidase responsible for 90 percent of copper transport. Also, ceruloplasmin is a positive acute-phase reactant, meaning its levels will increase in inflammatory conditions or cell injury. peter owl:Class HP:0006858 biolink:NamedThing Impaired distal proprioception A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints. tmpxe7fu0cj_hp_relaxed.owl Distal sensory loss of proprioception UMLS:C4021585 HP:0007148|HP:0007056 owl:Class HP:0010831 biolink:NamedThing Impaired proprioception A loss or impairment of the sensation of the relative position of parts of the body and joint position. tmpxe7fu0cj_hp_relaxed.owl Abnormality of proprioception UMLS:C1856691 peter 2010-07-10T07:12:53Z HP:0010870 human_phenotype owl:Class HP:0025339 biolink:NamedThing Superficial episcleral hyperemia Prominence of blood vessels of the superficial episcleral tissues. tmpxe7fu0cj_hp_relaxed.owl Superficial episcleral hypaeremia 2017-02-12 12:45:32+00:00 The episclera is a fibroelastic structure with two loosely joined layers. The superficial layer contains vessels of the superficial episcleral capillary plexus that appear straight and are arranged in a radial fashion. The deeper layer contains a highly anastomotic network of blood vessels. The episclera and sclera have a separate blood supply from that of the conjunctiva. Conjunctival hyperemia can be distinguished from episceral hyperemia because conjunctival hyperemia is characterized by finer, less tortuous vessels but deeper episcleral hyperemia maybe violaceous. The conjunctival vessels but not the deeper vessels can be moved by massaging with a cotton swab. HPO:probinson owl:Class HP:0025337 biolink:NamedThing Red eye A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera. tmpxe7fu0cj_hp_relaxed.owl Red eye|Red eyes 2017-02-12 12:27:39+00:00 HPO:probinson owl:Class HP:0009971 biolink:NamedThing Polydactyly affecting the 4th finger tmpxe7fu0cj_hp_relaxed.owl Extra ring finger UMLS:C4024136 doelkens 2009-05-26T02:19:06Z human_phenotype owl:Class HP:0006159 biolink:NamedThing Mesoaxial hand polydactyly The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly. tmpxe7fu0cj_hp_relaxed.owl Central hand polydactyly|Interdigital finger polydactyly UMLS:C4021606 HP:0004056|HP:0001496 human_phenotype owl:Class HP:0030970 biolink:NamedThing Abnormal vena cava physiology An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. tmpxe7fu0cj_hp_relaxed.owl 2017-04-18 13:41:37+00:00 robinp owl:Class HP:0030846 biolink:NamedThing Abnormality of venous physiology An anomaly of venous function. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280744 owl:Class HP:0006487 biolink:NamedThing Bowing of the long bones A bending or abnormal curvature of a long bone. tmpxe7fu0cj_hp_relaxed.owl Bowing of the long bones|Camptomelia|Diaphyseal bowing of long bones|Bowing of long bones|Bowed long bones|Diaphyseal bowing UMLS:C1855340 Curvatures of a long bone such as femur, tibia, or fibula. peter 2008-03-28T05:56:00Z HP:0005087|HP:0006452|HP:0005908|HP:0006404|HP:0002976|HP:0006451 human_phenotype owl:Class HP:0000940 biolink:NamedThing Abnormal diaphysis morphology An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the diaphyses|Anomaly of the limb diaphyses|Anomaly of the limb diaphyses morphology|Abnormality of shaft of long bone of the limbs|Abnormality involving the diaphyses of the limbs|Abnormal shape of shaft of long bone UMLS:C4021787 HP:0006504 human_phenotype owl:Class UBERON:0003553 biolink:NamedThing diencephalon pia mater A pia mater that is part of a diencephalon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl interbrain pia mater of neuraxis|pia mater of diencephalon|pia mater of mature diencephalon|between brain pia mater|mature diencephalon pia mater of neuraxis|pia mater of neuraxis of between brain|pia mater of between brain|pia mater of neuraxis of mature diencephalon|diencephalon pia mater of neuraxis|interbrain pia mater|pia mater of neuraxis of diencephalon|pia mater of neuraxis of interbrain|pia mater of interbrain|between brain pia mater of neuraxis|mature diencephalon pia mater EMAPA:17767|EHDAA2:0000400|VHOG:0000475|MA:0000829 uberon owl:Class Pia mater that is part of the diencephalon. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] UBERON:0003290 biolink:NamedThing meninx of diencephalon A meninx that is part of a diencephalon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl diencephalon meninx|between brain meninx|meninges of diencephalon|meninges of between brain|between brain meninges|meninges of mature diencephalon|mature diencephalon meninges|meninx of mature diencephalon|meninges of interbrain|meninx of between brain|interbrain meninges|meninx of interbrain|interbrain meninx|mature diencephalon meninx|diencephalon meninges MA:0000826|EMAPA:17764|VHOG:0000009|EHDAA:5458|EHDAA2:0000399 consider changing genus to subdivision of meninx uberon owl:Class Meninges that are part of the diencephalon. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] HP:0011027 biolink:NamedThing Abnormal fallopian tube morphology An abnormality of the fallopian tube. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the fallopian tube UMLS:C0281842 The Fallopian tubes (also known as oviducts, uterine tubes, and salpinges) are ducts that lead from the ovaries into the uterus. peter 2011-03-02T06:36:01Z human_phenotype owl:Class HP:0000008 biolink:NamedThing Abnormal morphology of female internal genitalia An abnormality of the female internal genitalia. tmpxe7fu0cj_hp_relaxed.owl Abnormality of female internal genitalia UMLS:C4025900 human_phenotype owl:Class GO:1905304 biolink:NamedThing regulation of cardiac myofibril assembly Any process that modulates the frequency, rate or extent of cardiac myofibril assembly. tmpxe7fu0cj_hp_relaxed.owl regulation of cardiac myofibril development|regulation of cardiac myofibril morphogenesis|regulation of heart myofibril assembly rl 2016-07-06T10:01:49Z biological_process owl:Class GO:0060284 biolink:NamedThing regulation of cell development Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009992 biolink:NamedThing Complete duplication of the middle phalanx of the 5th finger Complete duplication of the fifth middle phalanx of hand. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the middle little finger bone|Complete duplication of the middle pinky finger bone|Complete duplication of the middle pinkie finger bone UMLS:C4024125 doelkens 2009-05-26T02:24:33Z human_phenotype owl:Class GO:0120263 biolink:NamedThing positive regulation of heterochromatin organization Any process that activates or increases the frequency, rate or extent of heterochromatin organization. tmpxe7fu0cj_hp_relaxed.owl upregulation of heterochromatin organization|up-regulation of heterochromatin organization|stimulation of heterochromatin organization|up regulation of heterochromatin organization|activation of heterochromatin organization https://github.com/geneontology/go-ontology/issues/20020 krc 2020-09-29T20:19:19Z biological_process owl:Class GO:0120261 biolink:NamedThing regulation of heterochromatin organization Any process that modulates the frequency, rate, extent or location of heterochromatin organization. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/20020 krc 2020-09-29T20:00:04Z biological_process owl:Class HP:0012478 biolink:NamedThing Temporomandibular joint ankylosis Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. tmpxe7fu0cj_hp_relaxed.owl Adhesion of the temporomandibular joint|Freezing of jaw joint|Freezing of the temporomandibular joint|Rigidity of the temporomandibular joint|Temporomandibular joint fusion|Ankylosis of temporomandibular joint UMLS:C0575010|SNOMEDCT_US:50603008|UMLS:C0685924|SNOMEDCT_US:91866004|MSH:C536957|UMLS:C2931375|SNOMEDCT_US:298231004 peter 2013-11-28T07:24:24Z human_phenotype owl:Class HP:0010754 biolink:NamedThing Abnormality of the temporomandibular joint An anomaly of the temporomandibular joint. tmpxe7fu0cj_hp_relaxed.owl Anomaly of the temporomandibular joint|Deformity of the temporomandibular joint|Malformation of jaw joint|Derangement of the temporomandibular joint|Deformity of the jaw joint|Malformation of the temporomandibular joint|Abnormality of the jaw joint UMLS:C0266941|UMLS:C0424721|UMLS:C4280366|SNOMEDCT_US:75630004|SNOMEDCT_US:248401009|UMLS:C1865318 sdoelken 2010-04-23T10:36:28Z human_phenotype owl:Class GO:0098904 biolink:NamedThing regulation of AV node cell action potential Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in an atrioventricular node myocyte. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpxe7fu0cj_hp_relaxed.owl regulation of AV node cardiac muscle cell action potential|regulation of atrioventricular node cardiac muscle cell action potential tb 2011-11-10T08:58:56Z biological_process owl:Class GO:0098901 biolink:NamedThing regulation of cardiac muscle cell action potential Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in a cardiac muscle cell. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0410281 biolink:NamedThing Dyspepsia A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur. tmpxe7fu0cj_hp_relaxed.owl Indigestion 2018-11-06 23:08:26+00:00 owl:Class HP:0002027 biolink:NamedThing Abdominal pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. tmpxe7fu0cj_hp_relaxed.owl Stomach pain|Upset stomach|Abdominal pain|Abdominal discomfort|Gastro pain|Pain in stomach|Gastrointestinal pain SNOMEDCT_US:21522001|UMLS:C0000737|MSH:D015746|MEDDRA:10000081 Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. human_phenotype owl:Class HP:0030116 biolink:NamedThing Abnormal muscle fiber emerin A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre emerin UMLS:C4022629 owl:Class HP:0030089 biolink:NamedThing Abnormal muscle fiber protein expression An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre protein expression UMLS:C4022653 owl:Class HP:0100828 biolink:NamedThing Increased T cell count An abnormal increase in the total number of T cells detected in the blood. tmpxe7fu0cj_hp_relaxed.owl Increase in T cell count|Increase in T cell number UMLS:C4021960 doelkens 2011-06-09T05:34:46Z human_phenotype owl:Class HP:0100827 biolink:NamedThing Lymphocytosis Increase in the number or proportion of lymphocytes in the blood. tmpxe7fu0cj_hp_relaxed.owl High lymphocyte count UMLS:C0024282|MSH:D008218|SNOMEDCT_US:67023009 doelkens 2011-06-09T05:32:57Z HP:0012141 human_phenotype owl:Class UBERON:0002137 biolink:NamedThing aortic valve Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA]. tmpxe7fu0cj_hp_relaxed.owl valva aortae UMLS:C0003501|EHDAA:4410|VHOG:0000815|OpenCyc:Mx4rv5914JwpEbGdrcN5Y29ycA|NCIT:C12670|MESH:D001021|BTO:0004628|MA:0000087|GAID:563|EFO:0003879|FMA:7236|galen:AorticValve|EMAPA:17870|EHDAA2:0000134 Human variation: It is normally tricuspid (with three leaflets), although in 1% of the population it is found to be congenitally bicuspid (two leaflets) http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg uberon owl:Class The valve between the left ventricle of the heart and the ascending aorta, consisting of three semilunar cusps. [TFD][VHOG] UBERON:0005623 biolink:NamedThing semi-lunar valve The valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk. tmpxe7fu0cj_hp_relaxed.owl semilunar valves|semilunar valve EMAPA:35760|MA:0002790|EHDAA2:0001823|EHDAA:4408|VHOG:0001393 uberon owl:Class Extensive conservation of valve developmental mechanisms also has been observed among vertebrate species including chicken, mouse, and human.[well established][VHOG] Lacks chordae tendinae UBERON:0002209 biolink:NamedThing fibrous joint Nonsynovial joint in which the articulating bones or cartilages are connected by ligaments. Examples: sagittal suture, inferior tibiofibular syndesmosis, gomphosis.[FMA]. tmpxe7fu0cj_hp_relaxed.owl articulatio fibrosa|junctura fibrosa MA:0000321|EMAPA:35344|AEO:0000178|Wikipedia:Fibrous_joint|ZFA:0005156|TAO:0005156|SCTID:37772004|EHDAA2:0003178|FMA:7492 uberon owl:Class A joint where fibrous tissue such as ligament connects two calcified tissues.[TAO] UBERON:0011134 biolink:NamedThing nonsynovial joint Joint in which the articulating bones or cartilages are connected by ligaments or fibrocartilage without an intervening synovial cavity. Examples: sagittal suture, inferior tibiofibular syndesmosis, costochondral joint, pubic symphysis. tmpxe7fu0cj_hp_relaxed.owl solid joint FMA:7491 uberon owl:Class CHEBI:28260 biolink:NamedThing galactose An aldohexose that is the C-4 epimer of glucose. tmpxe7fu0cj_hp_relaxed.owl Galaktose|galacto-hexose|Galactose|galactose|Gal 0 C6H12O6 180.156 180.06339 Wikipedia:Galactose|CAS:26566-61-0|KEGG:C01582 CHEBI:24162|CHEBI:33933|CHEBI:5256 chebi_ontology owl:Class CHEBI:33917 biolink:NamedThing aldohexose A hexose with a (potential) aldehyde group at one end. tmpxe7fu0cj_hp_relaxed.owl aldohexose|aldohexoses CHEBI:2558 chebi_ontology owl:Class CHEBI:18139 biolink:NamedThing trimethylamine A tertiary amine that is ammonia in which each hydrogen atom is substituted by an methyl group. tmpxe7fu0cj_hp_relaxed.owl tridimethylaminomethane|TMA|N,N-Dimethylmethanamine|N,N,N-trimethylamine|N(CH3)3|N,N-dimethylmethanamine|Trimethylamin|(CH3)3N|Trimethylamine|NMe3 0 C3H9N InChI=1S/C3H9N/c1-4(2)3/h1-3H3 GETQZCLCWQTVFV-UHFFFAOYSA-N 59.11030 59.07350 CN(C)C PDBeChem:KEN|Beilstein:956566|KNApSAcK:C00001433|PMID:1801314|HMDB:HMDB0000906|PMID:14047118|KEGG:C00565|PMID:15304308|Wikipedia:Trimethylamine|CAS:75-50-3|PMID:24591617|Gmelin:1309|PMID:2501587|Reaxys:956566|PMID:5161463|MetaCyc:TRIMETHYLAMINE|PMID:17190852|PMID:15752091 CHEBI:15261|CHEBI:27127|CHEBI:9732|CHEBI:27125 chebi_ontology owl:Class CHEBI:25274 biolink:NamedThing methylamines tmpxe7fu0cj_hp_relaxed.owl methylated amines chebi_ontology owl:Class HP:0011125 biolink:NamedThing Abnormality of dermal melanosomes An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023525 peter 2011-06-12T10:19:27Z human_phenotype owl:Class HP:0001000 biolink:NamedThing Abnormality of skin pigmentation An abnormality of the pigmentation of the skin. tmpxe7fu0cj_hp_relaxed.owl Pigmentary skin changes|Pigmentation anomaly|Abnormal skin colour|Pigmentary changes|Abnormal skin pigmentation|Abnormality of skin pigmentation|Abnormality of pigmentation|Abnormal pigmentation|Abnormal skin color UMLS:C1260926 HP:0007582|HP:0200045 human_phenotype owl:Class HP:0025020 biolink:NamedThing Elevated prostate-specific antigen level An increased concentration of prostate specific antigen (PSA) in the circulation. tmpxe7fu0cj_hp_relaxed.owl 2016-08-12 12:13:13+00:00 Prostate-specific antigen (PSA) screening for prostate cancer has been common practice although the utility of general PSA screening has been called into question. HPO:probinson owl:Class UBERON:0005343 biolink:NamedThing cortical plate The outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers[MP]. tmpxe7fu0cj_hp_relaxed.owl future cortical layers II-VI|future neocortex|neocortex cortical plate|cerebral cortex cortical plate|CP|CxP EMAPA:32711|MBA:695|DHBA:10515|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2702|PBA:294021914|BAMS:CTXpl uberon owl:Class A single stem cell in the ventricular layer can give rise to neurons (and glial cells) in any of the cortical layers (Walsh and Cepko 1988)[NCBIBook:NBK10047]|in humans develops into cortical layers II-VI UBERON:0014950 biolink:NamedThing layer of developing cerebral cortex tmpxe7fu0cj_hp_relaxed.owl these layers primarily refer to the mammalian future neocortex uberon owl:Class PR:000050186 biolink:NamedThing IgD heavy chain protein An immunoglobulin heavy chain protein in which the constant region is encoded by the IgD gene segment. tmpxe7fu0cj_hp_relaxed.owl IgHD|immunoglobulin D heavy chain|immunoglobulin delta heavy chain|immunoglobulin heavy chain delta Category=gene. Requested by=IEDB. protein owl:Class PR:000050174 biolink:NamedThing immunoglobulin heavy chain protein A protein that is a translation product of some mRNA produced by a somatically recombined immunoglobulin heavy chain locus. tmpxe7fu0cj_hp_relaxed.owl IgH Category=family. Requested by=IEDB. Note: In human, the IgH locus is described by https://www.genenames.org/cgi-bin/genefamilies/set/349. In mouse, the locus is described by MGI:96442. protein owl:Class HP:0007874 biolink:NamedThing Almond-shaped palpebral fissure A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point. tmpxe7fu0cj_hp_relaxed.owl Almond shaped eyes|Almond-shaped opening between the eyelids UMLS:C4024780 The almond configuration tends to dissipate with time, as the surrounding tissues (e.g., eyelid, nasal bridge) grow. human_phenotype owl:Class HP:0200005 biolink:NamedThing Abnormal shape of the palpebral fissure The presence of an abnormal shape of the palpebral fissure. tmpxe7fu0cj_hp_relaxed.owl Abnormal morphology of the palpebral fissure|Abnormal shape of the opening between the eyelids UMLS:C4021905 sebastiankohler 2010-06-09T07:56:37Z human_phenotype owl:Class UBERON:0010259 biolink:NamedThing 1st arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 1st arch mesenchyme. tmpxe7fu0cj_hp_relaxed.owl mesenchyme derived from neural crest of mesenchyme of 1st arch|branchial arch 1 mesenchyme from neural crest|neural crest derived arch 1 mesenchyme|pharyngeal arch 1 mesenchyme from neural crest EMAPA:16129 uberon owl:Class HP:0010844 biolink:NamedThing EEG with multifocal slow activity Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023687 peter 2010-07-10T08:13:54Z human_phenotype owl:Class HP:0011203 biolink:NamedThing EEG with abnormally slow frequencies EEG with abnormally slow frequencies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023471 hecht 2011-11-19T11:26:47Z human_phenotype owl:Class GO:0061117 biolink:NamedThing negative regulation of heart growth Any process that decreases the rate or extent of heart growth. Heart growth is the increase in size or mass of the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2010-05-17T07:31:28Z biological_process owl:Class GO:0060420 biolink:NamedThing regulation of heart growth Any process that modulates the rate or extent of heart growth. Heart growth is the increase in size or mass of the heart. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0002573 biolink:NamedThing myeloid leukocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. tmpxe7fu0cj_hp_relaxed.owl myeloid leucocyte differentiation biological_process owl:Class GO:0030099 biolink:NamedThing myeloid cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0016910 biolink:NamedThing frenulum of lip tmpxe7fu0cj_hp_relaxed.owl frenulum labii|labial frenulum|medial labial frenulum|lip frenulum FMA:59820 uberon owl:Class UBERON:0036294 biolink:NamedThing mucosa of lip A mucosa that is part of a lip region [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl labial mucosa NCIT:C12226 uberon owl:Class HP:0010022 biolink:NamedThing Pseudoepiphysis of the 1st metacarpal The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024101 This feature can be seen for example in Holt-Oram Syndrome. doelkens 2009-05-27T04:02:50Z owl:Class HP:0009193 biolink:NamedThing Pseudoepiphyses of the metacarpals A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Accessory proximal metacarpal ossification centers|Metacarpal pseudoepiphyses|Accessory proximal metacarpal ossification centres UMLS:C1860253 doelkens 2008-12-30T02:03:34Z HP:0006091|HP:0006164 human_phenotype owl:Class GO:1900544 biolink:NamedThing positive regulation of purine nucleotide metabolic process Any process that activates or increases the frequency, rate or extent of purine nucleotide metabolic process. tmpxe7fu0cj_hp_relaxed.owl up-regulation of purine nucleotide metabolic process|upregulation of purine nucleotide metabolic process|activation of purine nucleotide metabolism|up regulation of purine metabolism|up regulation of purine metabolic process|positive regulation of purine metabolism|upregulation of purine metabolism|activation of purine metabolic process|up regulation of purine nucleotide metabolism|up-regulation of purine nucleotide metabolism|upregulation of purine metabolic process|positive regulation of purine metabolic process|up-regulation of purine metabolic process|up regulation of purine nucleotide metabolic process|upregulation of purine nucleotide metabolism|activation of purine metabolism|up-regulation of purine metabolism|positive regulation of purine nucleotide metabolism|activation of purine nucleotide metabolic process krc 2012-05-11T05:44:43Z biological_process owl:Class GO:1900542 biolink:NamedThing regulation of purine nucleotide metabolic process Any process that modulates the frequency, rate or extent of purine nucleotide metabolic process. tmpxe7fu0cj_hp_relaxed.owl regulation of purine metabolic process|regulation of purine nucleotide metabolism|regulation of purine metabolism krc 2012-05-11T05:43:15Z biological_process owl:Class GO:0051784 biolink:NamedThing negative regulation of nuclear division Any process that stops, prevents, or reduces the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. tmpxe7fu0cj_hp_relaxed.owl downregulation of nuclear division|down-regulation of nuclear division|down regulation of nuclear division|inhibition of nuclear division biological_process owl:Class GO:0051783 biolink:NamedThing regulation of nuclear division Any process that modulates the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025017 biolink:NamedThing Capillary fragility Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises). tmpxe7fu0cj_hp_relaxed.owl 2016-08-12 11:50:33+00:00 The formation of petechiae distal to a tourniquet or sphygmomanometer on release of pressure is known as the Rumpel-Leede sign. This sign was reported in 1909 by Theodor Rumpel, and again independently in 1911 by Carl Stockbridge Leede. Historically, the tourniquet test (or Rumpel-Leede Capillary-Fragility Test) was used to assess patients for thrombocytopenia and capillary fragility. Today, the Rumpel-Leede sign may be observed iatrogenically in the context of continuous blood-pressure monitoring [PMID:24382085]. HPO:probinson owl:Class HP:0025018 biolink:NamedThing Abnormal capillary physiology A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. tmpxe7fu0cj_hp_relaxed.owl 2016-08-12 11:56:48+00:00 HPO:probinson owl:Class PR:000002062 biolink:NamedThing macrophage colony-stimulating factor 1 receptor A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human CSF1R gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl CSF-1 receptor|M-CSF-R|CSF1R|CSF-1R|FMS|CSF-1-R|Csfmr|CD115|proto-oncogene c-Fms IUPHARobj:1806|PIRSF:PIRSF500947 Category=gene. Requested by=CL. protein owl:Class PR:000001810 biolink:NamedThing CSF-1/PDGF receptor-type tyrosine-protein kinase A protein with core architecture consisting of asignal sequence, 5 Ig-like domains, followed by a transmembrane sequence, followed by a Protein tyrosine kinase domain (Pfam:PF07714). However, only 1-3 of the Ig domains are detected by the Pfam HMMs in most of the sequences. Pfam:PF00047 is most common, but other members of the Ig domain clan, Pfam:PF07679 and Pfam:PF07686 can be identified instead. The fourth Ig domain lacks the disulfide-bonded cysteines. tmpxe7fu0cj_hp_relaxed.owl PIRSF:PIRSF000615 Category=family. protein owl:Class UBERON:0001754 biolink:NamedThing dental pulp The part in the center of a tooth made up of living soft tissue and cells called odontoblasts[WP]. tmpxe7fu0cj_hp_relaxed.owl dental pulp cell|pulp of tooth|tooth pulp TAO:0005141|NCIT:C32451|ZFA:0005141|GAID:1270|CALOHA:TS-0195|MESH:A14.254.900.260|VHOG:0001469|FMA:55631|EMAPA:35274|BTO:0000339|MA:0001599|UMLS:C0011399 Tooth:Section.svg uberon owl:Class Material in the center of the dentine of the mature tooth. In secondary teeth the pulp contains blood vessels and odontoblast.[TAO] The oral cavity of vertebrates is generally thought to arise as an ectodermal invagination. Consistent with this, oral teeth are proposed to arise exclusively from ectoderm, contributing to tooth enamel epithelium, and from neural crest derived mesenchyme, contributing to dentin and pulp (reference 1); Teeth and tooth-like structures, together named odontodes, are repeated organs thought to share a common evolutionary origin. These structures can be found in gnathostomes at different locations along the body: oral teeth in the jaws, teeth and denticles in the oral-pharyngeal cavity, and dermal denticles on elasmobranch skin (reference 2).[uncertain][VHOG] UBERON:0012242 biolink:NamedThing internal urethral orifice The usually crescent-shaped opening of the urinary bladder into the urethra, placed at the anteroinferior angle (apex) of the urinary bladder trigone. tmpxe7fu0cj_hp_relaxed.owl internal urethral orifice of urinary bladder|vesicourethral orifice|internal urinary meatus|ostium urethrae internum|internal meatus of urethra|orificium urethrae internum|internal urethral ostium|ostium orificium internum FMA:85263 uberon owl:Class UBERON:0004120 biolink:NamedThing mesoderm-derived structure An anatomical structure that develops (entirely or partially) from the mesoderm. tmpxe7fu0cj_hp_relaxed.owl mesodermal derivative FBbt:00025998 Grouping term for query purposes uberon owl:Class CHEBI:64600 biolink:NamedThing C21-steroid hormone A steroid compound with a structure based on a 21-carbon (pregnane) skeleton that acts as a hormone. tmpxe7fu0cj_hp_relaxed.owl C21-steroid hormones chebi_ontology owl:Class CHEBI:26764 biolink:NamedThing steroid hormone Any steroid that acts as hormone. tmpxe7fu0cj_hp_relaxed.owl Steroidhormon|steroid hormones|Steroidhormone|hormones steroides|hormonas esteroideas|hormone steroide|hormona esteroide chebi_ontology owl:Class UBERON:0011156 biolink:NamedThing facial skeleton Subdivision of skull that consists of the facial bones. tmpxe7fu0cj_hp_relaxed.owl facial skeleton|ossa faciei|ossa facialia|facial bone|viscerocranium FMA:53673|EHDAA2:0002206|Wikipedia:Facial_skeleton|EHDAA:8361|EMAPA:18022|MA:0000318 http://upload.wikimedia.org/wikipedia/commons/7/77/Illu_facial_bones.jpg uberon owl:Class CL:0000680 biolink:NamedThing muscle precursor cell A non-terminally differentiated cell that is capable of developing into a muscle cell. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class GO:0014059 biolink:NamedThing regulation of dopamine secretion Any process that modulates the frequency, rate or extent of the regulated release of dopamine. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0043269 biolink:NamedThing regulation of ion transport Any process that modulates the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009311 biolink:NamedThing Bullet-shaped proximal phalanx of the 4th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped innermost ring finger bone UMLS:C4024451 doelkens 2009-01-08T05:11:48Z human_phenotype owl:Class HP:0009284 biolink:NamedThing Abnormality of the proximal phalanx of the 4th finger tmpxe7fu0cj_hp_relaxed.owl Abnormality of the proximal phalanx of the ring finger|Abnormal innermost bone of ring finger UMLS:C4021500 doelkens 2009-01-07T04:42:40Z HP:0004199 human_phenotype owl:Class UBERON:0001723 biolink:NamedThing tongue A muscular organ in the floor of the mouth. tmpxe7fu0cj_hp_relaxed.owl glossus ZFA:0005333|NCIT:C12422|EV:0100058|Wikipedia:Tongue|XAO:0000446|MESH:D014059|EFO:0000833|TAO:0005333|MIAA:0000040|OpenCyc:Mx4rvVjmJ5wpEbGdrcN5Y29ycA_53KXLq9EdqAAAACs6hnmQ|GAID:816|EHDAA:9144|BTO:0001385|EMAPA:17185|MA:0000347|MAT:0000040|EHDAA2:0002062|FMA:54640|SCTID:181226008|VHOG:0000419|AAO:0010360|CALOHA:TS-1050|UMLS:C0040408 http://upload.wikimedia.org/wikipedia/commons/a/a6/Tongue.agr.jpg in MA the tongue is part of the oral region, which in uberon is treated as the oral opening. consider revising oral opening - oral region equivalence. uberon owl:Class Muscular organ in the floor of the mouth.[FEED]|The tongue is the movable, muscular organ on the floor of the mouth of most vertebrates, in many other mammals is the principal organ of taste, aids in the prehension of food, in swallowing, and in modifying the voice as in speech[GO][GO:0043586].|A mobile mass of muscular tissue that is covered with mucous membrane, occupies much of the cavity of the mouth, forms part of its floor, bears the organ of taste, and assists in chewing and swallowing. [TFD][VHOG] Most adult amphibians have a tongue, as do all known reptiles, birds and mammals. Thus it is likely that the tongue appeared with the establishment of tetrapods and this structure seems to be related, to some extant, to the terrestrial lifestyle.[well established][VHOG] glossal|lingual Many species of fish have small folds at the base of their mouths that might informally be called tongues, but they lack a muscular structure like the true tongues found in most tetrapods The tongue has contributions from all pharyngeal arches which changes with time. The tongue initially begins as swelling rostral to foramen cecum, the median tongue bud.. tongue muscles derive from the somites - http://php.med.unsw.edu.au/embryology/index.php?title=Tongue_Development#Pharyngeal_Arch_Contributions NCBITaxon:2 biolink:NamedThing Bacteria tmpxe7fu0cj_hp_relaxed.owl prokaryote|prokaryotes|Prokaryota|eubacteria|Prokaryotae|bacteria|Procaryotae|Monera PMID:8186100|PMID:11540071|PMID:10939651|PMID:10939677|PMID:11760965|PMID:7520741|PMID:9103655|PMID:12054223|PMID:10425795|PMID:10939673|PMID:11542087|PMID:2112744|PMID:10490293|PMID:11211268|PMID:10843050|PMID:10425797|PMID:11542017|PMID:8590690|PMID:9336922|PMID:11321083|GC_ID:11|PMID:11411719|PMID:8123559|PMID:11321113|PMID:270744|PMID:10425796 ncbi_taxonomy owl:Class OBI:0100026 biolink:NamedThing organism tmpxe7fu0cj_hp_relaxed.owl Category=external. obi owl:Class GO:1904028 biolink:NamedThing positive regulation of collagen fibril organization Any process that activates or increases the frequency, rate or extent of collagen fibril organization. tmpxe7fu0cj_hp_relaxed.owl up-regulation of collagen fibril organisation|up-regulation of collagen fibril organization|upregulation of fibrillar collagen organization|upregulation of collagen fibril organization|positive regulation of collagen fibril organisation|up regulation of collagen fibril organisation|up regulation of collagen fibril organization|up-regulation of fibrillar collagen organization|up regulation of fibrillar collagen organization|activation of collagen fibril organization|positive regulation of fibrillar collagen organization|upregulation of collagen fibril organisation|activation of collagen fibril organisation|activation of fibrillar collagen organization ae 2015-03-12T12:37:06Z biological_process owl:Class GO:1903055 biolink:NamedThing positive regulation of extracellular matrix organization Any process that activates or increases the frequency, rate or extent of extracellular matrix organization. tmpxe7fu0cj_hp_relaxed.owl positive regulation of extracellular matrix organization and biogenesis|up regulation of extracellular matrix organisation|positive regulation of extracellular matrix organisation|activation of extracellular matrix organization and biogenesis|activation of extracellular matrix organization|upregulation of extracellular matrix organization|upregulation of extracellular matrix organization and biogenesis|up regulation of extracellular matrix organization and biogenesis|up-regulation of extracellular matrix organization|up-regulation of extracellular matrix organization and biogenesis|upregulation of extracellular matrix organisation|up-regulation of extracellular matrix organisation|activation of extracellular matrix organisation|up regulation of extracellular matrix organization rl 2014-05-23T17:15:53Z biological_process owl:Class HP:0011557 biolink:NamedThing Double inlet to single ventricle of indeterminate morphology The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023301 peter 2012-04-07T12:00:21Z human_phenotype owl:Class HP:0001750 biolink:NamedThing Single ventricle The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle. tmpxe7fu0cj_hp_relaxed.owl Common ventricle SNOMEDCT_US:45503006|Fyler:0200|UMLS:C0152424|Fyler:200 human_phenotype owl:Class NBO:0000008 biolink:NamedThing rhythmic behavior GO:0007622 tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T01:03:39Z George Gkoutos behavior_ontology owl:Class NBO:0000313 biolink:NamedThing behavior process "The action, reaction, or performance of an organism in response to external or internal stimuli." [GO:GO\:0007610] GO:0007610 tmpxe7fu0cj_hp_relaxed.owl behaviour|behavior 2011-04-05T09:53:10Z George Gkoutos NBO:0000000 behavior_ontology owl:Class HP:0000710 biolink:NamedThing Hyperorality A tendency or compulsion to examine objects by mouth. tmpxe7fu0cj_hp_relaxed.owl Hyperoralia UMLS:C1838320 human_phenotype owl:Class HP:0000708 biolink:NamedThing Behavioral abnormality An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. tmpxe7fu0cj_hp_relaxed.owl Behavioral disturbances|Behavioral changes|Behavioral symptoms|Psychiatric disorders|Behavioural abnormality|Behavioral abnormality|Behavioral disorders|Behavioral/psychiatric abnormalities|Psychiatric disturbances|Behavioural/Psychiatric abnormality|Behavioural changes|Behavioural problems|Behavioural disorders|Behavioural symptoms|Behavioural disturbances|Behavioral problems MSH:D000066553|SNOMEDCT_US:277843001|UMLS:C0233514|SNOMEDCT_US:25786006|UMLS:C0004941|MSH:D001526 HP:0002456|HP:0000715|HP:0002368 human_phenotype owl:Class HP:0041152 biolink:NamedThing Fractured sternoclavicular joint A partial or complete breakage of the sternoclavicular joint. tmpxe7fu0cj_hp_relaxed.owl bone sternoclavicular joint owl:Class HP:0009810 biolink:NamedThing Abnormality of upper limb joint tmpxe7fu0cj_hp_relaxed.owl Abnormality of the joints of the upper limbs|Abnormality of upper limb joint UMLS:C4021387 doelkens 2009-02-23T04:57:56Z human_phenotype owl:Class HP:0005407 biolink:NamedThing Decreased proportion of CD4-positive helper T cells A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count. tmpxe7fu0cj_hp_relaxed.owl CD4+ T-cell lymphopenia|CD4 T cell lymphopenia|Abnormality of CD4+ T cells UMLS:C1839304 HP:0005480 human_phenotype owl:Class HP:0500267 biolink:NamedThing Abnormal proportion of CD4-positive helper T cells An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count. tmpxe7fu0cj_hp_relaxed.owl 2020-05-15 20:12:03+00:00 owl:Class GO:0010549 biolink:NamedThing regulation of membrane disassembly Any process that modulates the frequency, rate or extent of membrane disassembly. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0051128 biolink:NamedThing regulation of cellular component organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpxe7fu0cj_hp_relaxed.owl regulation of cell organisation|regulation of cell organization|regulation of cellular component organisation|regulation of cellular component organization and biogenesis biological_process owl:Class HP:0004223 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 5th finger Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the outermost pinky finger bone|Ivory epiphysis of the distal phalanx of the little finger|Ivory epiphysis of the terminal phalanx of the little finger|Increased bone density of end part of the outermost pinkie finger bone|Increased bone density of end part of the outermost little finger bone UMLS:C4021674 HP:0004229 human_phenotype owl:Class HP:0009388 biolink:NamedThing Ivory epiphyses of the 5th finger Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the little finger|Increased bone density of end part of the pinky finger|Increased bone density of end part of the pinkie finger UMLS:C4024401 doelkens 2009-01-13T01:19:03Z human_phenotype owl:Class UBERON:0019294 biolink:NamedThing commissure of telencephalon tmpxe7fu0cj_hp_relaxed.owl telencephalic commissures HBA:9220 uberon owl:Class UBERON:0001020 biolink:NamedThing nervous system commissure Axon tract that crosses the midline of the central nervous system[NIF, modified]. In the context of Drosophila refers to a broad band of axons connecting equivalent neuropils each side of the brain[FBbt]. tmpxe7fu0cj_hp_relaxed.owl commissure|commissure of neuraxis|neuraxis commissure|white matter commissure UMLS:C1185742|FMA:83906|NLX:110|TADS:0000201|OpenCyc:Mx4rdBrmE6gOEdudWQACs5b6Bw|NCIT:C32349|FBbt:00005103|NLXANAT:20090513 *not* the same as FMA:76741 Commissure uberon owl:Class White matter fiber bundle that crosses the midline of the brain or spinal cord, that connects similar structures on both sides. (CUMBO; Heimer, L. The Human Brain, 2nd ed., 1995, pg 6) commissural GO:0060049 biolink:NamedThing regulation of protein glycosylation Any process that modulates the frequency, rate or extent of protein glycosylation. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpxe7fu0cj_hp_relaxed.owl regulation of protein amino acid glycosylation biological_process owl:Class GO:0031399 biolink:NamedThing regulation of protein modification process Any process that modulates the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0004429 biolink:NamedThing proximal epiphysis of third metatarsal bone A proximal epiphysis that is part of a metatarsal bone of digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal end of third metatarsal bone|proximal epiphysis of metatarsal 3|base of third metatarsal bone FMA:42965 uberon owl:Class UBERON:0004380 biolink:NamedThing proximal epiphysis An epiphysis that is on the proximal side of the bone. tmpxe7fu0cj_hp_relaxed.owl proximal end of long bone FMA:32821 uberon owl:Class HP:0003791 biolink:NamedThing Deposits immunoreactive to beta-amyloid protein tmpxe7fu0cj_hp_relaxed.owl UMLS:C1853934 owl:Class HP:0004303 biolink:NamedThing Abnormal muscle fiber morphology Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre morphology|Abnormal skeletal muscle fibre morphology|Abnormality of muscle fibers|Abnormality of muscle fibres|Abnormal skeletal muscle fiber morphology UMLS:C4021663 Normal human muscle is composed of many individual muscle fibers bundled together by layers of connective tissue that are arranged in a nesting-doll like fashion. The inner most structure, the single muscle fiber, is covered by a thin layer of primarily reticular fibers called the endomysium. The endomysium is quite inconspicuous and muscle fibers appear to be in direct contact with each other. The finest capillaries, nerve twigs and lymphatic capillaries are found within the endomysium. Groups of muscle fibers are bound together by the thicker perimysium, forming structures called fascicles. Capillaries, nerve fibers and lymphatic vessels also track in the perimyseum. Bundles of fascicles are encased within the dense irregular connective tissue of the epimysium. These connective tissue layers provide mechanical protection for the muscle fibers and increase the tensile strength of the muscle. The layers are continuous with the tendon, which provides attachment to bone. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. Each nucleus provides a segment of the cell with needed translated protein products. peter 2008-02-20T12:04:00Z HP:0011806|HP:0003706 owl:Class HP:0002438 biolink:NamedThing Cerebellar malformation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025708 owl:Class HP:0001317 biolink:NamedThing Abnormal cerebellum morphology Any structural abnormality of the cerebellum. tmpxe7fu0cj_hp_relaxed.owl Cerebellar signs|Cerebellar abnormality|Abnormality of the cerebellum|Cerebellar anomaly|Cerebellar abnormalities UMLS:C1866129|UMLS:C0742038 A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors. owl:Class UBERON:0005805 biolink:NamedThing dorsal aorta The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. tmpxe7fu0cj_hp_relaxed.owl aortae dorsales|aorta dorsalis|DA|dorsal aortae|dorsal aortæ|dorsal aortic root|dorsal aorta root AAO:0011029|EMAPA:18606|Wikipedia:Dorsal_aorta|XAO:0000051|TAO:0000014|BTO:0004673|ZFA:0000014|EHDAA:402|SCTID:338637006|VHOG:0000264 http://upload.wikimedia.org/wikipedia/commons/f/fb/Gray459.png uberon owl:Class The artery in vertebrate embryos that transports blood from the aortic arches to the trunk and limbs. In adult fish it is a major artery that carries oxygenated blood from the efferent branchial arteries to branches that supply the body organ. In adult tetrapods it arises from the systemic arch|Each primitive aorta receives anteriorly a vein 'the vitelline vein' from the yolk-sac, and is prolonged backward on the lateral aspect of the notochord under the name of the dorsal aorta. The dorsal aortae give branches to the yolk-sac, and are continued backward through the body-stalk as the umbilical arteries to the villi of the chorion. The two dorsal aortae combine to become the descending aorta in later development[WP].|Principal unpaired, median artery of the trunk, leading from the paired roots (radices) of the dorsal aorta to the caudal artery. Kimmel et al, 1995.[TAO] relationship loss: part_of axial vasculature (TAO:0001073)[TAO] When vertebrates first appeared, they must have possessed a ventral and dorsal aorta with aortic arches between them.[well established][VHOG] UBERON:0000947 biolink:NamedThing aorta The main trunk of the systemic arterial system that carries blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation. tmpxe7fu0cj_hp_relaxed.owl trunk of aortic tree|trunk of systemic arterial tree|dorsal aorta|arteria maxima OpenCyc:Mx4rvVjvTpwpEbGdrcN5Y29ycA|MESH:D001011|VHOG:0001523|FMA:3734|MA:0000062|MAT:0000035|BTO:0000135|NCIT:C12669|AAO:0010213|EMAPA:18601|galen:Aorta|Wikipedia:Aorta|MIAA:0000035|GAID:469|UMLS:C0003483|EFO:0000265|CALOHA:TS-0046|EV:0100027|XAO:0003010|SCTID:181298001 Aorta:scheme.jpg This class is currently a mixed bag, encompassing (1) the entirety of the mammalian aorta together with (2) the developmental and phylogenetic homologs of its segments: the ventral aorta and dorsal aortae. uberon owl:Class The main artery of the circulatory system which carries oxygenated blood from the heart to all the arteries of the body except those of the lungs.[AAO] When vertebrates first appeared, they must have possessed a ventral and dorsal aorta with aortic arches between them.[well established][VHOG] aortic All amniotes have a broadly similar arrangement to that of humans, albeit with a number of individual variations. In fish, however, there are two separate vessels referred to as aortas. The ventral aorta carries de-oxygenated blood from the heart to the gills; part of this vessel forms the ascending aorta in tetrapods (the remainder forms the pulmonary artery). A second, dorsal aorta carries oxygenated blood from the gills to the rest of the body, and is homologous with the descending aorta of tetrapods. The two aortas are connected by a number of vessels, one passing through each of the gills. Amphibians also retain the fifth connecting vessel, so that the aorta has two parallel arches HP:0032738 biolink:NamedThing Focal aware emotional seizure with fear/anxiety/panic Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032739 biolink:NamedThing Focal emotional seizure with fear/anxiety/panic Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. tmpxe7fu0cj_hp_relaxed.owl These seizures arise in mesial temporal networks, especially the amygdala. They can be distinguished from panic attacks, by the presence of impaired awareness, automatisms and other features of an epileptic seizure appearing in a stereotyped manner. They are also distinguished from a focal autonomic seizure with epigastric sensation, where the onset seizure feature is an autonomic epigastric sensation, and fear may be present as a secondary feature. peter owl:Class HP:0040119 biolink:NamedThing Unilateral conductive hearing impairment tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022428 HPO:skoehler owl:Class HP:0000405 biolink:NamedThing Conductive hearing impairment An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. tmpxe7fu0cj_hp_relaxed.owl Conduction deafness|Conductive deafness|Hearing loss, conductive|Conductive hearing loss UMLS:C0018777|MSH:D006314|SNOMEDCT_US:44057004 A conductive hearing impariment with greater than 90 dB loss. HP:0000367|HP:0008581 human_phenotype owl:Class UBERON:0009653 biolink:NamedThing trachea basement membrane A basement membrane that is part of a trachea. tmpxe7fu0cj_hp_relaxed.owl NCIT:C49302|MA:0001854|UMLS:C1710455|EMAPA:37552 uberon owl:Class UBERON:0005769 biolink:NamedThing basement membrane of epithelium An acellular membrane that is part of the epithelium, lies adjacent to the epithelial cells, and is the fusion of the the basal lamina and the reticular lamina. tmpxe7fu0cj_hp_relaxed.owl basement membrane of connective tissue|basement membrane|membrana basalis Wikipedia:Basement_membrane|FMA:63872|SCTID:68989006|GAID:915|UMLS:C0004799|AAO:0010596|NCIT:C13191 this class represents a continuous sheet of basement membrane which can underlie multiple epithelial cells over large regions. In contrast, the GO class 'basal membrane' represents a portion of substance on the scale of a single cell. uberon owl:Class HP:0012890 biolink:NamedThing Posteriorly placed anus Posterior malposition of the anus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022693 peter 2014-06-23T10:55:41Z human_phenotype owl:Class HP:0004397 biolink:NamedThing Ectopic anus Abnormal displacement or malposition of the anus. tmpxe7fu0cj_hp_relaxed.owl Abnormal anus position|Anus malposition SNOMEDCT_US:5153001|UMLS:C0266231 peter 2008-03-18T09:13:00Z human_phenotype owl:Class UBERON:0005753 biolink:NamedThing caudal part of nephrogenic cord The metanephros develops from the most caudal part of the nephrogenic cord that is itself derived from the intermediate plate mesoderm. tmpxe7fu0cj_hp_relaxed.owl rear portion of nephrogenic cord|caudal region of nephrogenic cord|rear part of nephrogenic cord|caudal portion of nephrogenic cord uberon owl:Class UBERON:0004252 biolink:NamedThing hindlimb stylopod muscle Any muscle organ that is part of a hindlimb stylopod (upper leg)[Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl upper leg muscle|muscle of thigh|thigh muscle FMA:22470|BTO:0001367|EMAPA:19144|MA:0000684 UBERON:0000374 uberon owl:Class UBERON:0014892 biolink:NamedThing skeletal muscle organ A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles). tmpxe7fu0cj_hp_relaxed.owl skeletal muscle CALOHA:TS-0933|EMAPA:35988|EV:0100377|AAO:0011099|VHOG:0000319|EFO:0000888|MESH:D018482|EHDAA:5978|ZFA:0005277|EHDAA:5984|EHDAA:5035|BTO:0001103|MAT:0000302|MA:0003148|TAO:0005277|EHDAA:5043|GAID:141|XAO:0000174|OpenCyc:Mx4rv2kf-5wpEbGdrcN5Y29ycA|MIAA:0000302 uberon owl:Class GO:1905628 biolink:NamedThing negative regulation of serotonin biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of serotonin biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl down-regulation of serotonin biosynthetic process|down regulation of serotonin formation|inhibition of serotonin synthesis|inhibition of serotonin anabolism|down-regulation of serotonin formation|down regulation of serotonin biosynthesis|downregulation of serotonin biosynthesis|inhibition of serotonin biosynthesis|down regulation of serotonin anabolism|inhibition of serotonin biosynthetic process|negative regulation of serotonin biosynthesis|negative regulation of serotonin formation|downregulation of serotonin formation|downregulation of serotonin synthesis|down regulation of serotonin biosynthetic process|downregulation of serotonin biosynthetic process|negative regulation of serotonin synthesis|down-regulation of serotonin biosynthesis|inhibition of serotonin formation|downregulation of serotonin anabolism|down-regulation of serotonin synthesis|down-regulation of serotonin anabolism|down regulation of serotonin synthesis|negative regulation of serotonin anabolism pad 2016-10-31T14:26:28Z biological_process owl:Class GO:0051172 biolink:NamedThing negative regulation of nitrogen compound metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. tmpxe7fu0cj_hp_relaxed.owl down regulation of nitrogen metabolic process|inhibition of nitrogen metabolic process|down-regulation of nitrogen metabolic process|downregulation of nitrogen metabolic process|negative regulation of nitrogen metabolism|negative regulation of nitrogen metabolic process biological_process owl:Class HP:0011628 biolink:NamedThing Congenital defect of the pericardium A developmental defect of the pericardium with congenital onset. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023261 peter 2012-04-08T10:05:20Z owl:Class HP:0001697 biolink:NamedThing Abnormal pericardium morphology An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the pericardium Fyler:1900|UMLS:C4025754 owl:Class UBERON:0004115 biolink:NamedThing blood vessel of tympanic cavity A blood vessel that is part of a tympanic cavity [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl middle ear cavity blood vessel|tympanic cavity blood vessel|middle ear anatomical cavity blood vessel|middle ear blood vessel|anatomical cavity of middle ear blood vessel|blood vessel of middle ear cavity|blood vessel of anatomical cavity of middle ear|cavity of middle ear blood vessel|blood vessel of middle ear anatomical cavity|blood vessel of cavity of middle ear EMAPA:37775|MA:0001219 uberon owl:Class UBERON:0001981 biolink:NamedThing blood vessel A vessel through which blood circulates in the body. tmpxe7fu0cj_hp_relaxed.owl region of vascular tree organ|vascular element|vascular tree organ region|vas sanguineum SCTID:361097006|TAO:0002137|EHDAA2:0003252|EMAPA:32743|EMAPA:35993|VHOG:0001250|FMA:63183|XAO:0001011|MESH:D001808|MAT:0000393|NLXANAT:090901|MA:0000060|ZFA:0005314|GAID:169|AAO:0011004|BTO:0001102|OpenCyc:Mx4rvVjxlpwpEbGdrcN5Y29ycA|AEO:0000207|FMA:50722|Wikipedia:Blood_vessel|NCIT:C12679|EHDAA:240|CALOHA:TS-0080|UMLS:C0005847|EFO:0000817 http://upload.wikimedia.org/wikipedia/commons/2/29/Circulatory_System_en.svg consider adopting the EMAPA superclass 'vascular element', which includes microvasculature (e.g. capillaries), vascular plexus uberon owl:Class Any of the vessels through which blood circulates in the body. [XAO:0001011_][VHOG]|Any of the vessels through which blood circulates in the body.[AAO] The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] annelids have blood vessels, but this class is not applicable to annelids. FMA:63183 Blood vessel is categorized as 'general anatomical term'. Suggestion to map to region of vascular tree from Terry H at JAX GO:0048608 biolink:NamedThing reproductive structure development The reproductive developmental process whose specific outcome is the progression of somatic structures that will be used in the process of creating new individuals from one or more parents, from their formation to the mature structures. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009773 biolink:NamedThing Symphalangism affecting the phalanges of the hand Fusion of two or more phalangeal bones of the hand. tmpxe7fu0cj_hp_relaxed.owl Fused finger bones of the hand|Synostosis involving phalanges of the hand UMLS:C4021390 doelkens 2009-02-02T11:38:04Z HP:0006258 human_phenotype owl:Class HP:0001894 biolink:NamedThing Thrombocytosis Increased numbers of platelets in the peripheral blood. tmpxe7fu0cj_hp_relaxed.owl Thrombocythemia|Increased number of platelets in blood|Thrombocythaemia|Increased platelet count SNOMEDCT_US:6631009|SNOMEDCT_US:415115007|UMLS:C0836924|MSH:D013922|UMLS:C0857460 Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. human_phenotype owl:Class HP:0011873 biolink:NamedThing Abnormal platelet count Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0580317|SNOMEDCT_US:165558001 peter 2012-05-30T08:11:13Z human_phenotype owl:Class HP:0000765 biolink:NamedThing Abnormal thorax morphology Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). tmpxe7fu0cj_hp_relaxed.owl Abnormality of the chest|Structural abnormality of the chest wall|Abnormality of the thorax UMLS:C4021797 HP:0100655 owl:Class HP:0009121 biolink:NamedThing Abnormal axial skeleton morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the axial skeleton UMLS:C4024586|UMLS:C4020785 peter 2008-04-05T11:16:00Z owl:Class HP:0011086 biolink:NamedThing Dentinogenesis imperfecta of primary and permanent teeth Developmental dysplasia of dentin or both the primary dentition and the permanent dentition. tmpxe7fu0cj_hp_relaxed.owl Dentinogenesis imperfecta of adult and baby teeth|Dentinogenesis imperfecta of both sets of teeth UMLS:C4023539 peter 2011-03-11T12:28:37Z owl:Class HP:0000703 biolink:NamedThing Dentinogenesis imperfecta Developmental dysplasia of dentin. tmpxe7fu0cj_hp_relaxed.owl MSH:D003811|SNOMEDCT_US:196286005|UMLS:C0011436 This term is kept for convenience since it is often used to refer to the phenotype of discolored, fragile teeth in the medical literature. Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. owl:Class HP:0011960 biolink:NamedThing Substantia nigra gliosis Focal proliferation of glial cells in the substantia nigra. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1846865 peter 2012-07-16T11:50:42Z human_phenotype owl:Class HP:0002171 biolink:NamedThing Gliosis Gliosis is the focal proliferation of glial cells in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl Cerebral gliosis|Excess astrocytes in brain SNOMEDCT_US:359580009|MSH:D005911|SNOMEDCT_US:81415000|UMLS:C0017639 Gliosis generally occurs as a response to tissue damage. Gliosis appears bright on T2 scans upon magnetic resonance imaging, unlike encephalomalacia which follows CSF signal on all sequences. Glial cells, the non-neuronal component of the central nervous system, are divided into microglia and macroglia. The latter are in turn divided into astrocytes, oligodendrocytes, and ependymal cells. The astrocytes and the microglia are the glial cells predominantly responsible for tissue response to injury. human_phenotype owl:Class CHEBI:422 biolink:NamedThing (S)-lactic acid An optically active form of lactic acid having (S)-configuration. tmpxe7fu0cj_hp_relaxed.owl L-(+)-lactic acid|L-Lactic acid|(+)-lactic acid|(S)-2-hydroxypropanoic acid|L-Milchsaeure|(S)-(+)-lactic acid|(2S)-2-hydroxypropanoic acid|L-(+)-alpha-hydroxypropionic acid|(S)-2-hydroxypropionic acid 0 C3H6O3 InChI=1S/C3H6O3/c1-2(4)3(5)6/h2,4H,1H3,(H,5,6)/t2-/m0/s1 JVTAAEKCZFNVCJ-REOHCLBHSA-N 90.07794 90.03169 C[C@H](O)C(O)=O CAS:79-33-4|Gmelin:362717|PMID:22534372|HMDB:HMDB0000190|PMID:22461545|PMID:22336740|PMID:22424924|KNApSAcK:C00001191|PMID:22538963|Reaxys:1720251|PMID:22443585|Wikipedia:Lactic_Acid|PMID:22578598|KEGG:C00186|PMID:21996028|Beilstein:1720251|PMID:22367529 chebi_ontology owl:Class CHEBI:17375 biolink:NamedThing (2S)-2-hydroxy monocarboxylic acid A 2-hydroxy monocarboxylic acid in which the carbon at position 2 has (S)-configuration. tmpxe7fu0cj_hp_relaxed.owl (S)-2-Hydroxymonocarboxylic acid|(S)-2-Hydroxy acid|(S)-2-Hydroxycarboxylic acid|(S)-2-Hydroxyalkanoic acid|(2S)-2-hydroxy monocarboxylic acids|(S)-2-hydroxy acid 0 C2H3O3R 75.044 75.00822 C([C@@H](O)*)(=O)O CHEBI:378|CHEBI:11031|CHEBI:18737|CHEBI:381 chebi_ontology owl:Class GO:0002605 biolink:NamedThing negative regulation of dendritic cell antigen processing and presentation Any process that stops, prevents, or reduces the frequency, rate, or extent of dendritic cell antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl down regulation of dendritic cell antigen processing and presentation|down-regulation of dendritic cell antigen processing and presentation|downregulation of dendritic cell antigen processing and presentation|inhibition of dendritic cell antigen processing and presentation biological_process owl:Class GO:0002578 biolink:NamedThing negative regulation of antigen processing and presentation Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of antigen processing and presentation|down regulation of antigen processing and presentation|downregulation of antigen processing and presentation|inhibition of antigen processing and presentation biological_process owl:Class GO:0046326 biolink:NamedThing positive regulation of glucose import Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. tmpxe7fu0cj_hp_relaxed.owl stimulation of glucose import|up-regulation of glucose import|upregulation of glucose import|positive regulation of glucose uptake|up regulation of glucose import|activation of glucose import biological_process owl:Class GO:0010828 biolink:NamedThing positive regulation of glucose transmembrane transport Any process that increases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl positive regulation of glucose transport biological_process owl:Class UBERON:0005638 biolink:NamedThing anterior chamber epithelium An epithelium that is part of a anterior chamber of eyeball. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000130 uberon owl:Class UBERON:0015808 biolink:NamedThing eye epithelium An epithelium that is part of a camera-type eye. tmpxe7fu0cj_hp_relaxed.owl MA:0003162|EMAPA:35957 uberon owl:Class HP:0100557 biolink:NamedThing Hemiatrophy of lower limb Unilateral atrophy (reduction in size) of a leg. tmpxe7fu0cj_hp_relaxed.owl Asymmetric lower limb shortening UMLS:C0431934|SNOMEDCT_US:709411004 doelkens 2010-12-21T04:01:28Z human_phenotype owl:Class HP:0100556 biolink:NamedThing Hemiatrophy Undergrowth of the limbs that affects only one side. tmpxe7fu0cj_hp_relaxed.owl Hemiatrophy of the body|Asymmetric limb shortening SNOMEDCT_US:34087007|UMLS:C0333662 doelkens 2010-12-21T04:01:10Z HP:0200051|HP:0005091 human_phenotype owl:Class GO:0050679 biolink:NamedThing positive regulation of epithelial cell proliferation Any process that activates or increases the rate or extent of epithelial cell proliferation. tmpxe7fu0cj_hp_relaxed.owl stimulation of epithelial cell proliferation|up regulation of epithelial cell proliferation|up-regulation of epithelial cell proliferation|upregulation of epithelial cell proliferation|activation of epithelial cell proliferation biological_process owl:Class HP:0032331 biolink:NamedThing Increased urinary 11-deoxytetrahydrocorticosterone level An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-02-18 13:59:35+00:00 Increased urinary 11-deoxytetrahydrocorticosterone is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency. peter owl:Class HP:0012029 biolink:NamedThing Abnormal urine hormone level An abnormal concentration of a hormone in the urine. tmpxe7fu0cj_hp_relaxed.owl Abnormality of urine hormone level UMLS:C4023069 peter 2012-07-27T01:29:51Z human_phenotype owl:Class HP:0011892 biolink:NamedThing Low levels of vitamin K A reduced concentration of vitamin K. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:52675005|UMLS:C0042880|MSH:D014813 peter 2012-06-02T05:21:14Z human_phenotype owl:Class HP:0100831 biolink:NamedThing Abnormality of vitamin K metabolism Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade. tmpxe7fu0cj_hp_relaxed.owl Abnormality of vitamin K metabolism UMLS:C4021958 doelkens 2011-06-09T05:46:50Z human_phenotype owl:Class CHEBI:16070 biolink:NamedThing 1,5-anhydro-D-glucitol An anhydro sugar of D-glucitol. tmpxe7fu0cj_hp_relaxed.owl 1,5-Anhydroglucitol|1,5-Anhydro-D-glucitol|1,5-anhydro-D-glucitol|1,5-ANHYDROSORBITOL|1,5-anhydro-D-sorbitol|(2R,3S,4R,5S)-2-(hydroxymethyl)oxane-3,4,5-triol|1,5-anhydroglucitol|1,5-Anhydro-D-sorbitol 0 C6H12O5 InChI=1S/C6H12O5/c7-1-4-6(10)5(9)3(8)2-11-4/h3-10H,1-2H2/t3-,4+,5+,6+/m0/s1 MPCAJMNYNOGXPB-SLPGGIOYSA-N 164.15648 164.06847 OC[C@H]1OC[C@H](O)[C@@H](O)[C@@H]1O KEGG:C07326|Wikipedia:1,5-Anhydroglucitol|CAS:154-58-5|PDBeChem:ASO|Reaxys:80736|PMID:18492944|PMID:19796288|PMID:15277408|HMDB:HMDB0002712 CHEBI:11176|CHEBI:18943|CHEBI:550|CHEBI:40816 chebi_ontology owl:Class CHEBI:22558 biolink:NamedThing anhydro sugar Intramolecular ethers formally arising by elimination of water from two hydroxy groups of a single molecule of a monosaccharide (aldose or ketose) or monosaccharide derivative. tmpxe7fu0cj_hp_relaxed.owl sugar anhydride|anhydro sugar|anhydrosugars|anhydro sugars|sugar anhydrides chebi_ontology owl:Class HP:0100892 biolink:NamedThing Abnormality of the xiphoid process An abnormality of the xiphoid process of the sternum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021943 doelkens 2011-12-01T05:09:03Z human_phenotype owl:Class HP:0000766 biolink:NamedThing Abnormal sternum morphology An anomaly of the sternum, also known as the breastbone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the sternum|Pectus excavatum/carinatum|Pectus deformities|Pectus excavatum or carinatum|Pectus excavatum or pectus carinatum|Sternal anomalies|Pectus carinatum or pectus excavatum|Pectus deformity UMLS:C1860493 HP:0006605|HP:0000780|HP:0006708|HP:0006594|HP:0006630|HP:0006586 human_phenotype owl:Class CL:0002224 biolink:NamedThing lens epithelial cell A cell of the cuboidal epithelium that covers the lens. The cells of the lens epithelium regulate most of the homeostatic functions of the lens. As ions, nutrients, and liquid enter the lens from the aqueous humor, Na+/K+ ATPase pumps in the lens epithelial cells pump ions out of the lens to maintain appropriate lens osmolarity and volume, with equatorially positioned lens epithelium cells contributing most to this current. The activity of the Na+/K+ ATPases keeps water and current flowing through the lens from the poles and exiting through the equatorial regions. The cells of the lens epithelium also serve as the progenitors for new lens fibers. It constantly lays down fibers in the embryo, fetus, infant, and adult, and continues to lay down fibers for lifelong growth. tmpxe7fu0cj_hp_relaxed.owl FMA:67559 tmeehan 2010-09-07T10:45:47Z cell owl:Class CL:0002222 biolink:NamedThing vertebrate lens cell A cell comprising the transparent, biconvex body separating the posterior chamber and vitreous body, and constituting part of the refracting mechanism of the mammalian eye. tmpxe7fu0cj_hp_relaxed.owl FMA:70950 tmeehan 2010-09-07T10:38:03Z cell owl:Class HP:0011505 biolink:NamedThing Cystoid macular edema Cystoid macular edema (CME) is any type of macular edema that involves cyst formation. tmpxe7fu0cj_hp_relaxed.owl Cystoid macular oedema UMLS:C0024440|MSH:D008269|SNOMEDCT_US:193387007 CME can occur with Irvine-Gass syndrome and other disorders. peter 2012-04-06T09:12:59Z human_phenotype owl:Class HP:0040049 biolink:NamedThing Macular edema Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease. tmpxe7fu0cj_hp_relaxed.owl Macular oedema UMLS:C0271051|SNOMEDCT_US:37231002|MSH:D008269 HPO:skoehler owl:Class HP:0011798 biolink:NamedThing Renal oncocytoma A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:254922006|UMLS:C0346255|MSH:C537750 Renal oncocytoma is seen in Birt-Hogg-Dube syndrome (OMIM 135150). peter 2012-04-22T08:13:36Z human_phenotype owl:Class HP:0009726 biolink:NamedThing Renal neoplasm The presence of a neoplasm of the kidney. tmpxe7fu0cj_hp_relaxed.owl Kidney cancer|Renal tumours|Renal tumors|Neoplasia of the kidneys|Renal neoplasia SNOMEDCT_US:126880001|UMLS:C0022665|NCIT:C3262|MSH:D007680|UMLS:C1378703 peter 2009-01-31T10:41:48Z HP:0005933 human_phenotype owl:Class HP:0004482 biolink:NamedThing Relative macrocephaly A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. tmpxe7fu0cj_hp_relaxed.owl Macrocephaly, relative|Disproportionately large head|Relatively large head SNOMEDCT_US:3961000119101|UMLS:C1849075 HP:0000257|HP:0001364 human_phenotype owl:Class HP:0000256 biolink:NamedThing Macrocephaly Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. tmpxe7fu0cj_hp_relaxed.owl Large head|Big calvaria|Increased size of cranium|Increased size of head|Large cranium|Megacephaly|Large head circumference|Big skull|Big head|Macrocrania|Big cranium|Large calvaria|Increased size of skull|Large skull UMLS:C4280664|Fyler:4335|UMLS:C4255213|UMLS:C4280663|UMLS:C4083076 Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. HP:0005496|HP:0005491|HP:0200135 owl:Class HP:0002974 biolink:NamedThing Radioulnar synostosis An abnormal osseous union (fusion) between the radius and the ulna. tmpxe7fu0cj_hp_relaxed.owl Fused forearm bones MEDDRA:10037798|SNOMEDCT_US:33313004|MSH:C562408|UMLS:C0158761 HP:0003962 human_phenotype owl:Class HP:0002818 biolink:NamedThing Abnormality of the radius An abnormality of the radius. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025675 human_phenotype owl:Class UBERON:0004221 biolink:NamedThing intestine smooth muscle A portion of smooth muscle tissue that is part of a intestine [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bowel smooth muscle tissue|smooth muscle of bowel|intestinal muscularis|bowel non-striated muscle|bowel smooth muscle|non-striated muscle of bowel|intestine smooth muscle tissue|intestinal smooth muscle|smooth muscle of intestine|involuntary muscle of intestine|intestine involuntary muscle|smooth muscle tissue of bowel|non-striated muscle of intestine|involuntary muscle of bowel|smooth muscle tissue of intestine|intestine non-striated muscle|bowel involuntary muscle BTO:0000643|UMLS:C1708547|NCIT:C49243|EMAPA:35441|MA:0001539|EMAPA:35443 uberon owl:Class MA class may specifically mean muscle layer, but we treat as the sum of smooth muscle in both muscle layer and muscularis mucosa UBERON:0008896 biolink:NamedThing post-hyoid pharyngeal arch A pharyngeal arch that is posterior to the hyoid arch. i.e. any pharyngeal arch with a number 3 or higher. tmpxe7fu0cj_hp_relaxed.owl pharyngeal arch 3-7|branchial bars|gill arches 1-5|branchial arch|branchial bar|gill bar|branchial arches|visceral arches 3-7|gill arch ZFA:0001613|BTO:0002152|EFO:0003694|TAO:0001597|AAO:0010362|XAO:0000099|SCTID:308766004 uberon owl:Class Posterior-most stream of cranial neural crest, which sub-divides during migration.[AAO] UBERON:0002539 biolink:NamedThing pharyngeal arch One of a series of paired bulges that develop along the lateral walls of the foregut. The pharyngeal arches have developmental contributions from endoderm, mesoderm, and neural crest cells and are separated by anterior lateral endoderm out-pockets known as pharyngeal pouches. tmpxe7fu0cj_hp_relaxed.owl arcus pharyngei|visceral arch|pharyngeal arches|branchial arch AAO:0010359|SCTID:308766004|MAT:0000242|EMAPA:16117|Wikipedia:Pharyngeal_arch|ZFA:0001306|MIAA:0000242|TAO:0001306|NCIT:C34249|MESH:A16.254.160|XAO:0000096|BTO:0001785|EHDAA:571|GAID:1292|EFO:0000959|UMLS:C0080322|FMA:293015|VHOG:0000155 http://upload.wikimedia.org/wikipedia/commons/8/8b/Gray41.png uberon owl:Class One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of the embryo.[AAO] A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down.[well established][VHOG] Numbered cranial to caudal. different in mammals. branchial arch = ZFA:0001613 pharyngeal arch 3-7. generally gill arch 1 = pharyngeal arch 3. terminology varies as to whether branchial arch follows gill or pharyngeal numbering HP:0005768 biolink:NamedThing 2-4 toe cutaneous syndactyly A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4. tmpxe7fu0cj_hp_relaxed.owl Webbed 2nd, 3rd and 4th toes|Webbed second, third and fourth toes|Soft tissue syndactyly of toes 2, 3, and 4 UMLS:C4021622 owl:Class HP:0010621 biolink:NamedThing Cutaneous syndactyly of toes A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. tmpxe7fu0cj_hp_relaxed.owl Cutaneous syndactyly of feet|Webbed skin of toes|soft tissue syndactyly of toes UMLS:C1834737 doelkens 2009-11-18T10:32:21Z HP:0010555|HP:0004707|HP:0001990 owl:Class CHEBI:84118 biolink:NamedThing ganglioside GM3 A sialodiaosylceramide that is an alpha-N-acetylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-N-acylsphingosine in which the acyl group on nitrogen is (15Z)-tetracos-15-enoyl. tmpxe7fu0cj_hp_relaxed.owl monosialodihexosylganglioside|G(M3) ganglioside|alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-N-cis-tetracos-15-enoylsphingosine|NANA-Gal-Glc-ceramide|alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-N-(15Z)-tetracos-15-enoylsphingosine|monosialoganglioside GM3|(2S,3R,4E)-3-hydroxy-2-[(15Z)-tetracos-15-enoylamino]octadec-4-en-1-yl 5-acetamido-3,5-dideoxy-D-glycero-alpha-D-galacto-non-2-ulopyranonosyl-(2->3)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranoside|GM3 0 C65H118N2O21 InChI=1S/C65H118N2O21/c1-4-6-8-10-12-14-16-18-19-20-21-22-23-24-25-27-29-31-33-35-37-39-52(75)67-46(47(72)38-36-34-32-30-28-26-17-15-13-11-9-7-5-2)44-83-62-57(79)56(78)59(51(43-70)85-62)86-63-58(80)61(55(77)50(42-69)84-63)88-65(64(81)82)40-48(73)53(66-45(3)71)60(87-65)54(76)49(74)41-68/h18-19,36,38,46-51,53-63,68-70,72-74,76-80H,4-17,20-35,37,39-44H2,1-3H3,(H,66,71)(H,67,75)(H,81,82)/b19-18-,38-36+/t46-,47+,48-,49+,50+,51+,53+,54+,55-,56+,57+,58+,59+,60+,61-,62+,63-,65-/m0/s1 PFJKOHUKELZMLE-VEUXDRLPSA-N 1263.63320 1262.82271 CCCCCCCCCCCCC\C=C\[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[C@@H]2O[C@H](CO)[C@H](O)[C@H](O[C@@]3(C[C@H](O)[C@@H](NC(C)=O)[C@@H](O3)[C@H](O)[C@H](O)CO)C(O)=O)[C@H]2O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCC\C=C/CCCCCCCC PMID:24362891 chebi_ontology owl:Class CHEBI:36544 biolink:NamedThing sialodiosylceramide A ganglioside in which the number of residues in the oligosaccharide chain is two. tmpxe7fu0cj_hp_relaxed.owl sialodiosylceramides chebi_ontology owl:Class UBERON:0001304 biolink:NamedThing germinal epithelium of ovary Layer of simple cuboidal cells covering surface of ovary[WP]. tmpxe7fu0cj_hp_relaxed.owl germinal epithelium (female)|ovarian surface epithelium|ovary germinal epithelium|epithelium superficiale (ovarium)|female coelomic epithelium|ovary surface epithelium|surface epithelium of ovary UMLS:C0227875|FMA:18629|RETIRED_EHDAA2:0001361|BTO:0004483|EMAPA:17963|MA:0001711|NCIT:C61518|VHOG:0000630|EHDAA:8126 Controversial - see article. Requires expert input. Also check BTO placement uberon owl:Class UBERON:0004911 biolink:NamedThing epithelium of female gonad An epithelium surrounding an ovary. tmpxe7fu0cj_hp_relaxed.owl ovary epithelium|ovarian epithelium|ovarian sheath FBbt:00004896|BTO:0003661 after reasoning this should subsume the more specific germinal epithelium classes. We include the fly structure here although it is not clear if the sheath is an epithelium or a multi-tissue structure that includes epithelium as parts uberon owl:Class ENVO:00000428 biolink:NamedThing biome tmpxe7fu0cj_hp_relaxed.owl owl:Class ENVO:01001110 biolink:NamedThing ecosystem tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0007207 biolink:NamedThing Photosensitive tonic-clonic seizure Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light. tmpxe7fu0cj_hp_relaxed.owl Seizures, tonic-clonic, photosensitive|Photically induced tonic-clonic seizure|Photosensitive tonic-clonic seizures UMLS:C1846131 owl:Class HP:0020216 biolink:NamedThing Visually-induced seizure Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect. tmpxe7fu0cj_hp_relaxed.owl Photosensitive seizure robinp 2020-02-24 13:55:09+00:00 owl:Class UBERON:0003563 biolink:NamedThing telencephalon dura mater A dura mater that is part of a telencephalon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl dura mater of telencephalon|telencephalon dura mater of neuraxis|dura mater of neuraxis of telencephalon MA:0000981|EMAPA:17776 uberon owl:Class UBERON:0003289 biolink:NamedThing meninx of telencephalon A meninx that is part of a telencephalon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl meninges of telencephalon|telencephalon meninx|telencephalon meninges EMAPA:17774|MA:0000979|EHDAA2:0001990|EHDAA:5476|VHOG:0000010 consider changing genus to subdivision of meninx uberon owl:Class Meninges that are part of the telencephalon. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] UBERON:0004315 biolink:NamedThing distal phalanx of pedal digit 1 A distal phalanx that is part of a foot digit 1 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl first distal phalanx of foot|distal phalanx of first digit of foot|distal phalanx of great toe|hallux distal phalanx|distal phalanx of big toe|distal phalanx of pedal digit I|distal phalanx of hallux|foot digit 1 distal phalanx|distal phalanx of foot digit 1 FMA:32627 uberon owl:Class UBERON:0014483 biolink:NamedThing distal phalanx of digit 1 A distal phalanx that is part of a digit 1 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl distal phalanx of first digit|first distal phalanx|digit I P3|digit 1 distal phalanx|distal phalanx of digit I uberon owl:Class PR:000049995 biolink:NamedThing active alpha-amylase isozyme A protein that has alpha-amylase activity. tmpxe7fu0cj_hp_relaxed.owl fam:AMY Category=family. Note: The enzymatic activity corresponds to EC 3.2.1.1. This class refers only to functional enzymes; that is, those with measurable activity. protein owl:Class CL:0000805 biolink:NamedThing immature single positive thymocyte A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive. tmpxe7fu0cj_hp_relaxed.owl ISP|immature single positive T-lymphocyte|immature single positive T lymphocyte|immature single positive T cell|T.ISP.th Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and rearranging the T cell receptor alpha chain and expressing the CD8 coreceptor. This stage comes between the DN4 and DP stages. cell owl:Class CL:0000893 biolink:NamedThing thymocyte An immature T cell located in the thymus. tmpxe7fu0cj_hp_relaxed.owl thymic lymphocyte|immature T-cell|immature T lymphocyte|immature T-lymphocyte|immature T cell FMA:72202|BTO:0001372|CALOHA:TS-1042|XAO:0003159 cell owl:Class GO:0043536 biolink:NamedThing positive regulation of blood vessel endothelial cell migration Any process that activates or increases the frequency, rate or extent of the migration of the endothelial cells of blood vessels. tmpxe7fu0cj_hp_relaxed.owl stimulation of blood vessel endothelial cell migration|up regulation of blood vessel endothelial cell migration|activation of blood vessel endothelial cell migration|up-regulation of blood vessel endothelial cell migration|upregulation of blood vessel endothelial cell migration biological_process owl:Class GO:0043535 biolink:NamedThing regulation of blood vessel endothelial cell migration Any process that modulates the frequency, rate or extent of the migration of the endothelial cells of blood vessels. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0070447 biolink:NamedThing positive regulation of oligodendrocyte progenitor proliferation Any process that activates or increases the rate or extent of oligodendrocyte progenitor proliferation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of oligodendrocyte precursor proliferation biological_process owl:Class GO:0014015 biolink:NamedThing positive regulation of gliogenesis Any process that activates or increases the frequency, rate or extent of gliogenesis, the formation of mature glia. tmpxe7fu0cj_hp_relaxed.owl upregulation of gliogenesis|up regulation of gliogenesis|up-regulation of gliogenesis|activation of gliogenesis|stimulation of gliogenesis biological_process owl:Class CHEBI:37826 biolink:NamedThing sulfuric acid derivative tmpxe7fu0cj_hp_relaxed.owl sulfuric acid derivative|sulfuric acid derivatives chebi_ontology owl:Class CHEBI:33424 biolink:NamedThing sulfur oxoacid derivative tmpxe7fu0cj_hp_relaxed.owl sulfur oxoacid derivatives|sulfur oxoacid derivative chebi_ontology owl:Class GO:1905904 biolink:NamedThing positive regulation of mesoderm formation Any process that activates or increases the frequency, rate or extent of mesoderm formation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of mesoderm formation|up regulation of mesoderm formation|activation of mesoderm formation|upregulation of mesoderm formation rph 2017-02-03T12:28:38Z biological_process owl:Class UBERON:0004333 biolink:NamedThing proximal phalanx of pedal digit 2 A proximal phalanx that is part of a pedal digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl second proximal phalanx of foot|proximal phalanx of pedal digit II|proximal phalanx of the 2nd toe|2nd toe proximal phalanx|predal digit 2 proximal phalanx|foot digit 2 proximal phalanx|proximal phalanx of second toe|proximal phalanx of foot digit 2|proximal phalanx of second digit of foot|pedal phalanx II-1|proximal phalanx of 2nd toe FMA:32618 uberon owl:Class UBERON:0003641 biolink:NamedThing pedal digit 2 phalanx A phalanx that is part of a foot digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl foot digit 2 digit long bone|digit long bone of foot digit 2|foot digit 2 phalanx|phalanx of second toe|long bone of digit of foot digit 2|foot digit 2 long bone of digit|second toe phalanx|pedal digit II phalanx|phalanx of foot digit 2|hind limb digit 2 phalanx NCIT:C52779|FMA:32899|EMAPA:19126|MA:0001382|UMLS:C1708082 uberon owl:Class HP:0031768 biolink:NamedThing Parafoveal fixation Fixation of an object in the area adjacent to the fovea. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:54:21+00:00 peter owl:Class HP:0025549 biolink:NamedThing Eccentric visual fixation A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees. tmpxe7fu0cj_hp_relaxed.owl Eccentric fixation 2017-07-09 12:48:35+00:00 A anomaly in which a part of the retina other than the fovea is used for visual fixation. The fovea usually retains its straight ahead orientation. Eccentric fixation may be present under conditions of viewing with one or both eyes. However, it is more easily diagnosed monocularly (especially if the better eye is covered). HPO:probinson owl:Class GO:0032270 biolink:NamedThing positive regulation of cellular protein metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. tmpxe7fu0cj_hp_relaxed.owl up regulation of cellular protein metabolic process|up-regulation of cellular protein metabolic process|upregulation of cellular protein metabolic process|stimulation of cellular protein metabolic process|positive regulation of cellular protein metabolism|activation of cellular protein metabolic process biological_process owl:Class HP:0040250 biolink:NamedThing Reduced prothrombin antigen Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280698 This term has been requested and created by members of the BRIDGE consortium owl:Class HP:0012200 biolink:NamedThing Abnormality of prothrombin An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023005 peter 2013-03-12T11:48:06Z human_phenotype owl:Class HP:0011954 biolink:NamedThing Nodular regenerative hyperplasia of liver Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. tmpxe7fu0cj_hp_relaxed.owl Nodular transformation of liver|Noncirrhotic nodulation|Partial nodular transformation of liver UMLS:C1318485|SNOMEDCT_US:65860006|SNOMEDCT_US:715140008 peter 2012-06-21T09:06:10Z human_phenotype owl:Class HP:0410042 biolink:NamedThing Abnormal liver morphology Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. tmpxe7fu0cj_hp_relaxed.owl 2017-09-20 00:22:53+00:00 Fyler:4447 ORCID:0000-0001-5208-3432 owl:Class GO:0015721 biolink:NamedThing bile acid and bile salt transport tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0006869 biolink:NamedThing lipid transport The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0010922 biolink:NamedThing positive regulation of phosphatase activity Any process that increases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1905269 biolink:NamedThing positive regulation of chromatin organization Any process that activates or increases the frequency, rate or extent of chromatin organization. tmpxe7fu0cj_hp_relaxed.owl upregulation of chromatin organization|up-regulation of establishment or maintenance of chromatin architecture|up regulation of chromatin organization|up regulation of establishment or maintenance of chromatin architecture|up-regulation of chromatin organisation|activation of chromatin organization|activation of chromatin organisation|positive regulation of chromatin organisation|upregulation of chromatin organisation|positive regulation of establishment or maintenance of chromatin architecture|up-regulation of chromatin organization|activation of establishment or maintenance of chromatin architecture|positive regulation of chromatin modification|upregulation of establishment or maintenance of chromatin architecture|up regulation of chromatin organisation pr 2016-06-15T20:14:56Z GO:1903310 biological_process owl:Class GO:1902275 biolink:NamedThing regulation of chromatin organization Any process that modulates the frequency, rate or extent of chromatin organization. tmpxe7fu0cj_hp_relaxed.owl regulation of establishment or maintenance of chromatin architecture|regulation of chromatin organisation|regulation of chromatin modification bf 2013-07-01T13:21:52Z GO:1903308 biological_process owl:Class HP:0009204 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 5th finger An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the middle bone of the little finger|Bracket shaped end part of the middle bone of the pinky finger|Bracket shaped end part of the middle bone of the pinkie finger UMLS:C4024536 doelkens 2009-01-05T05:22:18Z human_phenotype owl:Class HP:0010258 biolink:NamedThing Bracket epiphyses of the middle phalanges of the hand An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the middle hand bones UMLS:C4023942 doelkens 2009-07-06T04:24:15Z human_phenotype owl:Class HP:0011744 biolink:NamedThing Secondary hypercortisolism Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol. tmpxe7fu0cj_hp_relaxed.owl ACTH-dependent hypercortisolemia UMLS:C4023207|UMLS:C4020741 peter 2012-04-21T11:46:27Z human_phenotype owl:Class HP:0003118 biolink:NamedThing Increased circulating cortisol level Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. tmpxe7fu0cj_hp_relaxed.owl Cushing syndrome|Increased cortisol production|Increased circulating cortisol level|Hypercortisolism SNOMEDCT_US:237735008|MSH:D000308|UMLS:C0001622|UMLS:C0342443|SNOMEDCT_US:47270006|UMLS:C4025651|SNOMEDCT_US:275437005 HP:0000850|HP:0001578|HP:0004316 human_phenotype owl:Class GO:1900127 biolink:NamedThing positive regulation of hyaluronan biosynthetic process Any process that activates or increases the frequency, rate or extent of hyaluronan biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl activation of hyaluronan formation|up-regulation of hyaluronan anabolism|upregulation of hyaluronan biosynthesis|positive regulation of hyaluronan formation|up-regulation of hyaluronan biosynthetic process|positive regulation of hyaluronan biosynthesis|upregulation of hyaluronan formation|up regulation of hyaluronan anabolism|up regulation of hyaluronan formation|upregulation of hyaluronan synthesis|activation of hyaluronan biosynthetic process|activation of hyaluronan biosynthesis|up regulation of hyaluronan synthesis|up regulation of hyaluronan biosynthetic process|up-regulation of hyaluronan formation|up-regulation of hyaluronan biosynthesis|upregulation of hyaluronan biosynthetic process|activation of hyaluronan anabolism|positive regulation of hyaluronan synthesis|activation of hyaluronan synthesis|upregulation of hyaluronan anabolism|positive regulation of hyaluronan anabolism|up regulation of hyaluronan biosynthesis|up-regulation of hyaluronan synthesis yaf 2012-02-23T01:09:33Z biological_process owl:Class GO:0010557 biolink:NamedThing positive regulation of macromolecule biosynthetic process Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0000204 biolink:NamedThing Cleft upper lip A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. tmpxe7fu0cj_hp_relaxed.owl Cheiloschisis of upper lip|Harelip|Cleft upper lip|Cleft of upper lip MSH:D002971|Fyler:4875|SNOMEDCT_US:80281008|UMLS:C0008924 human_phenotype owl:Class HP:0410030 biolink:NamedThing Cleft lip A gap in the lip or lips. tmpxe7fu0cj_hp_relaxed.owl Cleft of the lip|Cleft lip 2017-06-20 22:17:35+00:00 ORCID:0000-0001-5208-3432 owl:Class GO:2000378 biolink:NamedThing negative regulation of reactive oxygen species metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of reactive oxygen species metabolic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of ROS metabolic process|negative regulation of reactive oxygen species metabolism mah 2011-02-11T02:06:49Z biological_process owl:Class GO:2000377 biolink:NamedThing regulation of reactive oxygen species metabolic process Any process that modulates the frequency, rate or extent of reactive oxygen species metabolic process. tmpxe7fu0cj_hp_relaxed.owl regulation of reactive oxygen species metabolism|regulation of ROS metabolic process mah 2011-02-11T02:06:36Z biological_process owl:Class UBERON:0004294 biolink:NamedThing glomerular capillary endothelium An endothelium that is part of a glomerular capillary. tmpxe7fu0cj_hp_relaxed.owl renal glomerulus capillary endothelium UMLS:C0227647|MA:0001658|NCIT:C32522 uberon owl:Class UBERON:0001915 biolink:NamedThing endothelium of capillary An endothelium that is part of a capillary [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl endothelium of blood capillary|endothelium of capillary vessel|capillary endothelium|blood capillary endothelium|capillary vessel endothelium EMAPA:36292|UMLS:C0006904|CALOHA:TS-0112|BTO:0004954|MA:0000711|FMA:62114|NCIT:C49215 uberon owl:Class HP:0008204 biolink:NamedThing Precocious puberty with Sertoli cell tumor tmpxe7fu0cj_hp_relaxed.owl Precocious puberty with Sertoli cell tumour UMLS:C1868007 human_phenotype owl:Class HP:0100619 biolink:NamedThing Sertoli cell neoplasm The presence of a neoplasm of the testis with origin in a Sertoli cell. tmpxe7fu0cj_hp_relaxed.owl Sertoli cell neoplasia UMLS:C4020704|NCIT:C39976 doelkens 2010-12-28T11:42:18Z human_phenotype owl:Class HP:0006779 biolink:NamedThing Alveolar rhabdomyosarcoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C0206655|MSH:D018232|SNOMEDCT_US:63449009|NCIT:C3749|SNOMEDCT_US:404053004 human_phenotype owl:Class HP:0002859 biolink:NamedThing Rhabdomyosarcoma tmpxe7fu0cj_hp_relaxed.owl NCIT:C3359|SNOMEDCT_US:302847003|MSH:D012208|UMLS:C0035412|SNOMEDCT_US:30924005 human_phenotype owl:Class HP:0005305 biolink:NamedThing Cerebral venous thrombosis Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. tmpxe7fu0cj_hp_relaxed.owl Cerebral thrombosis|Cerebral vein thrombosis|Blood clot in cerebral vein UMLS:C0151945|SNOMEDCT_US:95455008 human_phenotype owl:Class HP:0004936 biolink:NamedThing Venous thrombosis Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. tmpxe7fu0cj_hp_relaxed.owl Blood clot in vein SNOMEDCT_US:111293003|UMLS:C0042487|MSH:D020246 human_phenotype owl:Class UBERON:0012332 biolink:NamedThing broad ligament of uterus A broad fold of peritoneum that extends from the side of the uterus to the wall of the pelvis. tmpxe7fu0cj_hp_relaxed.owl ligamentum latum uteri|broad uterine ligament|broad ligament MESH:D001956|UMLS:C0006205|FMA:16516|NCIT:C12318 uberon owl:Class GO:0046670 biolink:NamedThing positive regulation of retinal cell programmed cell death Any process that activates or increases the frequency, rate or extent of programmed cell death that occurs in the retina. tmpxe7fu0cj_hp_relaxed.owl upregulation of retinal programmed cell death|stimulation of retinal programmed cell death|up regulation of retinal programmed cell death|activation of retinal programmed cell death|up-regulation of retinal programmed cell death|positive regulation of retinal programmed cell death biological_process owl:Class GO:0051094 biolink:NamedThing positive regulation of developmental process Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpxe7fu0cj_hp_relaxed.owl stimulation of developmental process|upregulation of developmental process|up-regulation of developmental process|up regulation of developmental process|activation of developmental process biological_process owl:Class HP:0008942 biolink:NamedThing Acute rhabdomyolysis An acute form of rhabdomyolysis. tmpxe7fu0cj_hp_relaxed.owl Rhabdomyolysis, acute UMLS:C3807306 human_phenotype owl:Class HP:0003201 biolink:NamedThing Rhabdomyolysis Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. tmpxe7fu0cj_hp_relaxed.owl Breakdown of skeletal muscle SNOMEDCT_US:89010004|UMLS:C0035410|SNOMEDCT_US:240131006|MSH:D012206 human_phenotype owl:Class UBERON:5103631 biolink:NamedThing pedal digit 1 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 1 plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl pedal digit 1|pedal digit I digitopodial skeleton|pedal digit 1 skeleton this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class UBERON:5106048 biolink:NamedThing digit 1 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of digit 1 plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl digit I digitopodial skeleton|digit 1 skeleton|digit 1 this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class GO:0043067 biolink:NamedThing regulation of programmed cell death Any process that modulates the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. tmpxe7fu0cj_hp_relaxed.owl regulation of non-apoptotic programmed cell death GO:0043070 biological_process owl:Class GO:0010941 biolink:NamedThing regulation of cell death Any process that modulates the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0035662 biolink:NamedThing parotid vein tmpxe7fu0cj_hp_relaxed.owl anterior parotid vein|parotid branch of facial vein FMA:50919 uberon owl:Class UBERON:0009141 biolink:NamedThing craniocervical region vein A vein that is part of a craniocervical region. tmpxe7fu0cj_hp_relaxed.owl craniocervical vein|vein of head and neck|head and neck veins SCTID:32945007|EHDAA2:0004542 uberon owl:Class PATO:0001670 biolink:NamedThing decreased susceptibility toward A susceptibility toward an external stimulus which is lower than normal/average. tmpxe7fu0cj_hp_relaxed.owl low susceptibility toward|decreased susceptibility quality owl:Class UBERON:0004906 biolink:NamedThing ectodermal part of digestive tract A portion of the gut that is derived from ectoderm. tmpxe7fu0cj_hp_relaxed.owl gut ectoderm|ectodermal gut uberon owl:Class GO:0032774 biolink:NamedThing RNA biosynthetic process The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. tmpxe7fu0cj_hp_relaxed.owl RNA formation|RNA anabolism|RNA biosynthesis|RNA synthesis Note that, in some cases, viral RNA replication and viral transcription from RNA actually refer to the same process, but may be called differently depending on the focus of a specific research study. biological_process owl:Class GO:0009059 biolink:NamedThing macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpxe7fu0cj_hp_relaxed.owl macromolecule formation|macromolecule anabolism|macromolecule biosynthesis|biopolymer biosynthetic process|macromolecule synthesis GO:0043284 biological_process owl:Class UBERON:0005389 biolink:NamedThing transparent eye structure A transparent structure that is part of a visual sense organ, the function of which is to direct or focus light onto a photoreceptor array. tmpxe7fu0cj_hp_relaxed.owl lens uberon owl:Class directing or focusing light onto light receptors HP:0033501 biolink:NamedThing Subepithelial glomerular basement membrane electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 14:16:42+00:00 peter owl:Class HP:0033499 biolink:NamedThing Glomerular basement membrane electron dense deposits Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 13:35:30+00:00 See Figure 1 of PMID:33329990 for an example. peter owl:Class HP:0012504 biolink:NamedThing Abnormal size of pituitary gland A deviation from the normal size of the pituitary gland. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022874 peter 2013-11-30T09:36:04Z human_phenotype owl:Class HP:0012503 biolink:NamedThing Abnormality of the pituitary gland An anomaly of the pituitary gland. tmpxe7fu0cj_hp_relaxed.owl disorder of pituitary gland UMLS:C0032002|MSH:D010900|SNOMEDCT_US:399244003 peter 2013-11-30T09:34:21Z human_phenotype owl:Class HP:0032466 biolink:NamedThing Aplasia of the olfactory bulb Lack of formation (congenital absence) of the olfactory bulb. tmpxe7fu0cj_hp_relaxed.owl Olfactory bulb aplasia|Aplastic olfactory bulb 2019-04-04 09:33:50+00:00 Olfactory bulb aplasia causes anosmia, a complete loss of the sense of smell. peter owl:Class HP:0040327 biolink:NamedThing Abnormal morphology of the olfactory bulb An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0010324 biolink:NamedThing Abnormal morphology of phalanx of the 2nd toe An anomaly of a phalanx of second toe. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the 2nd toe bone UMLS:C4023903 doelkens 2009-07-16T11:40:18Z owl:Class HP:0001621 biolink:NamedThing Weak voice Reduced intensity (volume) of speech. tmpxe7fu0cj_hp_relaxed.owl Hypophonia|Soft voice|Weak voice|Quiet voice SNOMEDCT_US:8614008|MSH:D014832|UMLS:C0241700|UMLS:C0521007|SNOMEDCT_US:34527004 Hypophonia refers to an abnormally weak voice due to incoordination of the muscles concerned in vocalization. owl:Class HP:0001608 biolink:NamedThing Abnormality of the voice tmpxe7fu0cj_hp_relaxed.owl Voice abnormality|Abnormality of the voice UMLS:C4021776 This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth. human_phenotype owl:Class HP:0011705 biolink:NamedThing First degree atrioventricular block Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:270492004|UMLS:C0085614 The conduction of the cardiac impulse through the atrioventricular node is manifested in the EKG by the PR interval, which is normally less that 200 milliseconds in adults. Normal values are age-dependent in children, but normal values are less that 160 milliseconds in young children. peter 2012-04-11T07:17:18Z human_phenotype owl:Class HP:0001678 biolink:NamedThing Atrioventricular block Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. tmpxe7fu0cj_hp_relaxed.owl Atrioventricular nodal disease|Interruption of electrical communication between upper and lower chambers of heart UMLS:C0004245|SNOMEDCT_US:233917008|UMLS:C1841659|MSH:D054537 HP:0006672|HP:0005142|HP:0001668 human_phenotype owl:Class HP:0009269 biolink:NamedThing Small epiphysis of the proximal phalanx of the 4th finger Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of the innermost bone of the ring finger UMLS:C4024480 doelkens 2009-01-07T12:12:59Z human_phenotype owl:Class HP:0009401 biolink:NamedThing Small epiphyses of the 4th finger Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of ring finger bone UMLS:C4024389 doelkens 2009-01-13T01:59:12Z human_phenotype owl:Class GO:0001503 biolink:NamedThing ossification The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpxe7fu0cj_hp_relaxed.owl bone biosynthesis|bone formation|osteogenesis Wikipedia:Ossification Note that this term does not have a 'developmental process' parent because ossification isn't necessarily developmental, can also occur as part of bone remodeling. Instead use 'ossification involved in bone maturation ; GO:0043931'. biological_process owl:Class GO:0032501 biolink:NamedThing multicellular organismal process Any biological process, occurring at the level of a multicellular organism, pertinent to its function. tmpxe7fu0cj_hp_relaxed.owl single-multicellular organism process|organismal physiological process jl 2012-09-19T16:07:47Z GO:0044707|GO:0050874 biological_process owl:Class GO:0006790 biolink:NamedThing sulfur compound metabolic process The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. tmpxe7fu0cj_hp_relaxed.owl sulphur metabolic process|sulfur metabolism|sulphur metabolism Wikipedia:Sulfur_metabolism biological_process owl:Class GO:0008152 biolink:NamedThing metabolic process The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. tmpxe7fu0cj_hp_relaxed.owl metabolism resulting in cell growth|metabolism|metabolic process resulting in cell growth|single-organism metabolic process|multicellular organism metabolic process Wikipedia:Metabolism Note that metabolic processes do not include single functions or processes such as protein-protein interactions, protein-nucleic acids, nor receptor-ligand interactions. jl 2012-10-17T15:46:40Z GO:0044710|GO:0044236 biological_process owl:Class HP:0004408 biolink:NamedThing Abnormality of the sense of smell An anomaly in the ability to perceive and distinguish scents (odors). tmpxe7fu0cj_hp_relaxed.owl Abnormality of the sense of smell|Smell defect|Abnormality of olfaction|Abnormal sense of smell UMLS:C4021655 peter 2008-03-18T09:21:00Z HP:0004410 owl:Class HP:0031198 biolink:NamedThing Renal tubular epithelial cell casts A type of cellular urinary cast composed of renal tubular epithelial cells. tmpxe7fu0cj_hp_relaxed.owl 2017-06-27 10:53:27+00:00 Renal tubular epithelial cell casts can be observed in disorders including renal tubular necrosis, cytomegalovirus and other viral infections, kidney transplant rejection. peter owl:Class HP:0031197 biolink:NamedThing Cellular urinary casts A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells). tmpxe7fu0cj_hp_relaxed.owl Cellular casts 2017-06-27 10:50:11+00:00 peter owl:Class UBERON:0007416 biolink:NamedThing cerebellar peduncle Any of the three large paired bundles of nerve fibers that connect the cerebellum to the brain stem. tmpxe7fu0cj_hp_relaxed.owl cerebellum peduncle EMAPA:35213|BAMS:cbp|FMA:272298|NCIT:C88147|MBA:752|MA:0002742|UMLS:C0228515 uberon owl:Class UBERON:0014891 biolink:NamedThing brainstem white matter White matter that is part of a brainstem [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl brainstem tracts|brain stem white matter|brainstem tracts and commissures|brainstem tract/commissure EMAPA:35189|FMA:282112|SCTID:360442003|MA:0002741 uberon owl:Class HP:0025604 biolink:NamedThing Orbital schwannoma A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 22:31:31+00:00 HPO:probinson owl:Class HP:0100012 biolink:NamedThing Neoplasm of the eye A tumor (abnormal growth of tissue) of the eye. tmpxe7fu0cj_hp_relaxed.owl Neoplasia of the eye|Eye tumor|Eye tumour NCIT:C3262|SNOMEDCT_US:371486001|MSH:D005134|UMLS:C0015414 doelkens 2010-05-14T09:43:34Z human_phenotype owl:Class HP:0009222 biolink:NamedThing Small epiphysis of the middle phalanx of the 4th finger Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of the middle bone of the ring finger UMLS:C4024519 doelkens 2009-01-05T05:23:59Z human_phenotype owl:Class HP:0010265 biolink:NamedThing Small epiphyses of the middle phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Small end part of the middle hand bones UMLS:C4023936 doelkens 2009-07-06T04:24:15Z human_phenotype owl:Class UBERON:0003855 biolink:NamedThing gonad mesenchyme Mesenchyme that is part of a developing gonad [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of gonada|mesenchyme of gonad|gonada mesenchyme EHDAA:5012|VHOG:0001090|EMAPA:16858|EMAPA:17385 uberon owl:Class HP:0031615 biolink:NamedThing Hypopyon Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber. tmpxe7fu0cj_hp_relaxed.owl 2017-12-16 13:13:37+00:00 peter owl:Class HP:0000593 biolink:NamedThing Abnormal anterior chamber morphology Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. tmpxe7fu0cj_hp_relaxed.owl Ocular anterior chamber abnormality|Abnormality of the anterior chamber|Anterior chamber anomalies UMLS:C3152182|SNOMEDCT_US:204142009 human_phenotype owl:Class UBERON:0006657 biolink:NamedThing glenoid fossa Anatomical cavity for the proximal articular surface of the proximal limb or fin element with the scapulocoracoid or equivalent structure. tmpxe7fu0cj_hp_relaxed.owl glenoid cavity|cavitas glenoidalis scapulae|cavitus glenoidalis|glenoid cavity of scapula|cavitas glenoidalis|glenoid facet EMAPA:25122|AAO:0000749|FMA:23275|NCIT:C32682|UMLS:C1261046 http://upload.wikimedia.org/wikipedia/commons/e/ec/Gray328.png uberon owl:Class Cavity for the articulation of the forelimb formed by the scapula, coracoid, and clavicle.[AAO] relationship loss: part_of scapular area (AAO:0000935)[AAO] The glenoid fossa can be associated with the metapterygium in sarcopterygians, or either the meso- or propterygium in basal gnathostomes such as Chondrichthyans FMA also has classes for the bony parts around the cavity - these may be more useful than the cavity term itself UBERON:0004704 biolink:NamedThing bone fossa A depression or hollow in a bone[WP]. tmpxe7fu0cj_hp_relaxed.owl groove|depressions|concavity|concavities|fossa|fossae|depression TAO:0001743|FMA:45791|UMLS:C0836913|ZFA:0005388|AAO:0010439|VSAO:0005069 uberon owl:Class Anatomical space that is a concavity, shallow depression, or groove on a bone.[TAO] General Anatomical term in FMA; not restricted to bone in ncit; surface feature in VSAO; note that entities named 'fossa' are cavities in FMA, hence placement here GO:1905477 biolink:NamedThing positive regulation of protein localization to membrane Any process that activates or increases the frequency, rate or extent of protein localization to membrane. tmpxe7fu0cj_hp_relaxed.owl up-regulation of protein localization in membrane|up regulation of protein localization in membrane|up-regulation of protein localisation in membrane|upregulation of protein localization to membrane|activation of protein localisation in membrane|up regulation of protein localization to membrane|up-regulation of protein localization to membrane|activation of protein localization in membrane|activation of protein localization to membrane|upregulation of protein localization in membrane|positive regulation of protein localization in membrane|up regulation of protein localisation in membrane|positive regulation of protein localisation in membrane|upregulation of protein localisation in membrane bc 2016-09-21T16:20:18Z biological_process owl:Class GO:1903829 biolink:NamedThing positive regulation of protein localization Any process that activates or increases the frequency, rate or extent of a protein localization. tmpxe7fu0cj_hp_relaxed.owl up-regulation of cellular protein localization|up regulation of cellular protein localization|up regulation of cellular protein localisation|up-regulation of cellular protein localisation|upregulation of cellular protein localisation|upregulation of cellular protein localization|positive regulation of cellular protein localization|positive regulation of cellular protein localisation https://github.com/geneontology/go-ontology/issues/22021 jl 2015-01-20T14:32:33Z biological_process owl:Class HP:0011533 biolink:NamedThing Snowflake vitreoretinal degeneration The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous. tmpxe7fu0cj_hp_relaxed.owl Snowflake retinal degeneration UMLS:C1860405|MSH:C536677 peter 2012-04-07T09:52:37Z human_phenotype owl:Class HP:0007769 biolink:NamedThing Peripheral retinal degeneration tmpxe7fu0cj_hp_relaxed.owl UMLS:C1320640|SNOMEDCT_US:405721006|SNOMEDCT_US:61536007 HP:0007782|HP:0007805 human_phenotype owl:Class UBERON:0000333 biolink:NamedThing intestinal gland A gland that is part of the intestinal mucosa. Examples include the intestinal crypts, duodenal gland[cjm]. tmpxe7fu0cj_hp_relaxed.owl gland of bowel mucous membrane|gland of mucosa of bowel|organ mucosa of intestine gland|mucosa of organ of bowel gland|gland of bowel mucosa|bowel mucous membrane gland|gland of organ mucosa of intestine|bowel organ mucosa gland|intestine organ mucosa gland|mucosa of organ of intestine gland|glandula intestinalis|bowel mucosa of organ gland|intestine mucous membrane gland|gland of mucosa of organ of bowel|mucosa of bowel gland|gland of intestine mucosa|gland of intestine mucous membrane|gland of mucosa of organ of intestine|gland of intestine organ mucosa|mucous membrane of intestine gland|gland of intestinal mucosa|gland of mucous membrane of intestine|gland of mucous membrane of bowel|gland of bowel mucosa of organ|intestinal mucosa gland|intestine mucosa gland|glandulae intestinales|intestine mucosa of organ gland|organ mucosa of bowel gland|gland of mucosa of intestine|gland of organ mucosa of bowel|mucosa of intestine gland|mucous membrane of bowel gland|gland of bowel organ mucosa|gland of intestine mucosa of organ|bowel mucosa gland BTO:0000640|FMA:15052 uberon owl:Class Note that some sources treat 'intestinal gland' as synonymous with crypts UBERON:0002530 biolink:NamedThing gland An organ that functions as a secretory or excretory organ. tmpxe7fu0cj_hp_relaxed.owl Druese|glandular organ|glandula AAO:0000212|galen:Gland|WikipediaCategory:Glands|HAO:0000375|EHDAA:4475|SCTID:134358001|BTO:0000522|Wikipedia:Gland|MIAA:0000021|EMAPA:18425|EFO:0000797|AEO:0000096|FMA:86294|FBbt:00100317|EHDAA:2161|NCIT:C13319|EHDAA:6522|UMLS:C1285092|MAT:0000021|FMA:7146|EHDAA2:0003096|OpenCyc:Mx4rwP3vyJwpEbGdrcN5Y29ycA|MA:0003038 http://upload.wikimedia.org/wikipedia/commons/a/a1/Gray1026.png UBERON:MIAA_0000021 uberon owl:Class glandular HP:0031723 biolink:NamedThing Secondary esotropia Convergent squint which follows loss or impairment of vision. tmpxe7fu0cj_hp_relaxed.owl Sensory esotropia 2018-01-13 14:08:58+00:00 peter owl:Class HP:0000565 biolink:NamedThing Esotropia A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. tmpxe7fu0cj_hp_relaxed.owl Inward turning cross eyed SNOMEDCT_US:16596007|UMLS:C0014877|MSH:D004948 Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria. human_phenotype owl:Class GO:0045223 biolink:NamedThing regulation of CD4 production Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of CD4. tmpxe7fu0cj_hp_relaxed.owl regulation of CD4 biosynthetic process|regulation of CD4 biosynthesis|regulation of CD4 synthesis|regulation of CD4 formation|regulation of CD4 anabolism biological_process owl:Class HP:0005547 biolink:NamedThing Myeloproliferative disorder Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0027022|MSH:D009196|SNOMEDCT_US:414794006|SNOMEDCT_US:425333006 There are four main myeloproliferative disroders, 1) chronic myelogenous leukemia (CML); 2) Polycythemia vera; 3) Essential thrombocytosis; and 4) Myelofibrosis. human_phenotype owl:Class HP:0001909 biolink:NamedThing Leukemia A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. tmpxe7fu0cj_hp_relaxed.owl Leukaemia|Blood cancer SNOMEDCT_US:87163000|SNOMEDCT_US:129154003|MSH:D007938|UMLS:C0023418|MSH:D019337|SNOMEDCT_US:269475001|UMLS:C0376545|SNOMEDCT_US:93143009 HP:0005519|HP:0006726 human_phenotype owl:Class UBERON:0002663 biolink:NamedThing septal nuclear complex Collection of nerve cells in the medial forebrain lying generally in front of the anterior commissure (Maryann Martone). tmpxe7fu0cj_hp_relaxed.owl parolfactory nuclei|septal nucleus|nuclei septales|septal nuclei HBA:13002|FMA:61845|GAID:637|BIRNLEX:1313|MESH:A08.186.211.577.750.800|DHBA:10350|EMAPA:35763|MA:0002978|EHDAA2:0004709|UMLS:C0036687|BAMS:SptN uberon owl:Class The septal nuclei are structures in the middle anteroventral cerebrum that are composed of medium-size neurons grouped into medial, lateral, and posterior groups. The septal nuclei receive reciprocal connections from the olfactory bulb, hippocampus, amygdala, hypothalamus, midbrain, habenula, cingulate gyrus, and thalamus. The septal nuclei play a role in reward and reinforcement along with the nucleus accumbens. In the 1950s, Olds & Milner showed that rats with electrodes implanted in this area will self-stimulate repeatedly in order to experience a euphoric feeling (i.e. press a bar to receive electrical current that will stimulate the neurons). [WP,unvetted][Wikipedia:Septal_nuclei].|Any of the groups of neural nuclei situated in the septal region which have afferent and cholinergic efferent connections with a variety of forebrain and brainstem areas including the hippocampus, the lateral hypothalamus, the tegmentum, and the amygdala. in NIFSTD this is the mereological sum of the individual complexes - in MA it is the superclass UBERON:0007245 biolink:NamedThing nuclear complex of neuraxis Gray matter of the central nervous system which is a collection of clustered nuclei. tmpxe7fu0cj_hp_relaxed.owl nuclear complex|cluster of neural nuclei|neural nuclei FMA:84059|FMA:256381 uberon owl:Class PR:000036194 biolink:NamedThing eukaryotic protein A protein that is encoded in the genome of some Eukaryota. tmpxe7fu0cj_hp_relaxed.owl Eukaryota protein protein owl:Class HP:3000067 biolink:NamedThing Abnormal lateral cricoarytenoid muscle morphology Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway. tmpxe7fu0cj_hp_relaxed.owl Abnormal anterior cricoarytenoid muscle morphology|Abnormality of lateral cricoarytenoid muscle|Abnormality of lateral crico-arytenoid UMLS:C4073274 vasilevs 2015-08-07T03:38:35Z human_phenotype owl:Class UBERON:0003889 biolink:NamedThing fallopian tube Initial section of the oviduct through which the ova pass from the ovary to the uterus. tmpxe7fu0cj_hp_relaxed.owl tuba uterina|fallopian tubes|paramesonephric duct of female|salpinx|salpinges|female paramesonephric duct|mammalian oviduct|uterine tube (sensu Mammalia) FMA:18245|EV:0100112|NCIT:C12403|MESH:D005187|UMLS:C0015560|GAID:365|CALOHA:TS-0732|EMAPA:18984|EMAPA:35660|EHDAA2:0000504|MA:0000385|OpenCyc:Mx4rvViVeZwpEbGdrcN5Y29ycA|galen:FallopianTube http://upload.wikimedia.org/wikipedia/commons/6/68/Scheme_female_reproductive_system-en.svg uberon owl:Class Homologous to appendix testis UBERON:0015212 biolink:NamedThing lateral structure Any structure that is placed on one side of the left-right axis of a bilaterian. tmpxe7fu0cj_hp_relaxed.owl This class is primarily to implement taxon constraints. It may be removed in the future. uberon owl:Class UBERON:0003566 biolink:NamedThing head connective tissue A portion of connective tissue that is part of a head [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl portion of connective tissue of adult head|textus connectivus of head|adult head textus connectivus|head portion of connective tissue|adult head connective tissue|connective tissue of head|head textus connectivus|adult head portion of connective tissue|portion of connective tissue of head|connective tissue of adult head|textus connectivus of adult head EMAPA:16098|MA:0000577 uberon owl:Class GO:0071868 biolink:NamedThing cellular response to monoamine stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monoamine stimulus. A monoamine is any of a group of molecular messengers that contain one amino group that is connected to an aromatic ring by ethylene group (-CH2-CH2-). Monoamines are derived from the aromatic amino acids phenylalanine, tyrosine, histidine and tryptophan. tmpxe7fu0cj_hp_relaxed.owl mah 2010-09-13T02:38:52Z biological_process owl:Class GO:0070887 biolink:NamedThing cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. tmpxe7fu0cj_hp_relaxed.owl Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. mah 2009-08-27T04:41:45Z biological_process owl:Class HP:0009675 biolink:NamedThing Absent epiphysis of the distal phalanx of the thumb Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Absent end part of thumb outermost long bone UMLS:C4024242 doelkens 2009-01-30T09:18:09Z human_phenotype owl:Class HP:0010246 biolink:NamedThing Absent epiphyses of the distal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Absent end part of the outermost hand bones UMLS:C4023953 doelkens 2009-07-06T04:23:06Z human_phenotype owl:Class GO:0007000 biolink:NamedThing nucleolus organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nucleolus. tmpxe7fu0cj_hp_relaxed.owl nucleolus organisation|nucleolus organization and biogenesis biological_process owl:Class GO:0006997 biolink:NamedThing nucleus organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nucleus. tmpxe7fu0cj_hp_relaxed.owl nucleus organization and biogenesis|nuclear organization and biogenesis|nuclear morphology|nuclear organisation|nuclear organization GO:0048287 biological_process owl:Class HP:0011706 biolink:NamedThing Second degree atrioventricular block An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0264906|SNOMEDCT_US:195042002 peter 2012-04-11T07:22:35Z human_phenotype owl:Class HP:0100532 biolink:NamedThing Scleritis Inflammation of the sclera. tmpxe7fu0cj_hp_relaxed.owl Inflammation of the outer white part of the eye SNOMEDCT_US:78370002|MSH:D015423|UMLS:C0036416 Scleritis may be accompanied by blurred vision, eye pain, redness of the (normally white) sclera, photophobia, and tearing. doelkens 2010-12-20T03:50:04Z human_phenotype owl:Class HP:0100533 biolink:NamedThing Inflammatory abnormality of the eye Inflammation of the eye, parts of the eye or the periorbital region. tmpxe7fu0cj_hp_relaxed.owl Ocular inflammation|Inflammatory abnormality of the eye UMLS:C4020969 doelkens 2010-12-20T03:53:42Z HP:0007891 human_phenotype owl:Class UBERON:0004423 biolink:NamedThing proximal epiphysis of second metacarpal bone A proximal epiphysis that is part of a metacarpal bone of digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl second metacarpal bone base|proximal epiphysis of metacarpal 2|base of second metacarpal bone|proximal end of second metacarpal bone FMA:42791 uberon owl:Class UBERON:0004392 biolink:NamedThing epiphysis of second metacarpal bone An epiphysis that is part of a metacarpal bone of digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl metacarpal 2 epiphysis|second metacarpal bone epiphysis FMA:33794 uberon owl:Class UBERON:0011817 biolink:NamedThing skin appendage placode An ectodermal placode that gives rise to any of the cutaneous appendages that protrude from the skin epidermis (heair, feathers, epidermal scales). tmpxe7fu0cj_hp_relaxed.owl skin follicle placode|cutaneous appendage follicle placode uberon owl:Class GO:0048869 biolink:NamedThing cellular developmental process A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0009987 biolink:NamedThing cellular process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpxe7fu0cj_hp_relaxed.owl cell growth and/or maintenance|cellular physiological process|cell physiology|single-organism cellular process jl 2012-12-11T16:56:55Z GO:0008151|GO:0044763|GO:0050875 biological_process owl:Class GO:0070961 biolink:NamedThing positive regulation of neutrophil mediated killing of symbiont cell Any process that increases the frequency, rate or extent of the directed killing of a symbiont target cell by a neutrophil. tmpxe7fu0cj_hp_relaxed.owl up-regulation of neutrophil mediated killing of symbiont cell|stimulation of neutrophil mediated killing of symbiont cell|upregulation of neutrophil mediated killing of symbiont cell|up regulation of neutrophil mediated killing of symbiont cell|activation of neutrophil mediated killing of symbiont cell mah 2009-10-01T02:28:49Z biological_process owl:Class GO:0032103 biolink:NamedThing positive regulation of response to external stimulus Any process that activates, maintains or increases the rate of a response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl stimulation of response to external stimulus|up regulation of response to external stimulus|activation of response to external stimulus|upregulation of response to external stimulus|up-regulation of response to external stimulus Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class CHEBI:16199 biolink:NamedThing urea A carbonyl group with two C-bound amine groups. The commercially available fertilizer has an analysis of 46-0-0 (N-P2O5-K2O). tmpxe7fu0cj_hp_relaxed.owl Carbamide|carbamide|E927b|H2NC(O)NH2|carbonyldiamide|Karbamid|UREA|Harnstoff|urea|Urea|1728|uree|ur 0 CH4N2O InChI=1S/CH4N2O/c2-1(3)4/h(H4,2,3,4) XSQUKJJJFZCRTK-UHFFFAOYSA-N 60.05534 60.03236 NC(N)=O CAS:57-13-6|Drug_Central:4264|KEGG:C00086|Gmelin:1378|HMDB:HMDB0000294|KNApSAcK:C00007314|PPDB:1728|PMID:18037357|PDBeChem:URE|UM-BBD_compID:c0165|Wikipedia:Urea|DrugBank:DB03904|YMDB:YMDB00003|MetaCyc:UREA|Reaxys:635724|ECMDB:ECMDB04172|PMID:22770225|Beilstein:635724|KEGG:D00023 CHEBI:9888|CHEBI:27218|CHEBI:46379|CHEBI:15292 chebi_ontology owl:Class CHEBI:64708 biolink:NamedThing one-carbon compound An organic molecular entity containing a single carbon atom (C1). tmpxe7fu0cj_hp_relaxed.owl one-carbon compounds chebi_ontology owl:Class HP:0003330 biolink:NamedThing Abnormal bone structure Any anomaly in the composite material or the layered arrangement of the bony skeleton. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025630 owl:Class HP:0011842 biolink:NamedThing Abnormal skeletal morphology An abnormality of the form, structure, or size of the skeletal system. tmpxe7fu0cj_hp_relaxed.owl Abnormality of skeletal morphology|Abnormally shaped skeletal UMLS:C4023165 peter 2012-05-07T08:08:37Z owl:Class HP:0100078 biolink:NamedThing Bracket epiphyses of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of pinky toe bone|Bracket shaped end part of little toe bone|Bracket shaped end part of pinkie toe bone UMLS:C4022343 doelkens 2010-06-24T10:00:02Z human_phenotype owl:Class HP:0000474 biolink:NamedThing Thickened nuchal skin fold A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. tmpxe7fu0cj_hp_relaxed.owl Increased nuchal fold|Increased nuchal fold thickness|Thickened skin folds of neck|Thickened skin over the neck|Excess nuchal skin|Thick nuchal fold|Thickened nuchal skin UMLS:C1836940 The measurement of nuchal fold (NF) thickness during the second trimester is considered to be one of the most sensitive and specific isolated ultrasound marker for the identification of suspected cases of trisomy 21. Thick NF may also be seen in other aneuploidies as well as Turner's syndrome, Noonan's syndrome, Roberts syndrome, Zellweger syndrome and with congenital heart disease and with pathogenic CNVs. A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org). HP:0000477 owl:Class HP:0011425 biolink:NamedThing Fetal ultrasound soft marker An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. tmpxe7fu0cj_hp_relaxed.owl Foetal ultrasound soft marker UMLS:C4023366 The screening ultrasound at 16 to 20 weeks should evaluate 8 markers, 5 of which (thickened nuchal fold, echogenic bowel, mild ventriculomegaly, echogenic focus in the heart, and choroid plexus cyst) are associated with an increased risk of fetal aneuploidy, and in some cases with nonchromosomal problems, while 3 (single umbilical artery, enlarged cisterna magna, and pyelectasis) are only associated with an increased risk of nonchromosomal abnormalities when seen in isolation (PMID:16100637). peter 2012-03-17T04:26:01Z owl:Class GO:2000282 biolink:NamedThing regulation of cellular amino acid biosynthetic process Any process that modulates the frequency, rate or extent of cellular amino acid biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl regulation of cellular amino acid formation|regulation of amino acid biosynthetic process|regulation of cellular amino acid synthesis|regulation of cellular amino acid biosynthesis|regulation of cellular amino acid anabolism vw 2010-12-10T11:54:19Z biological_process owl:Class HP:0033455 biolink:NamedThing Elevated urinary dicarboxylic acid level Increased amount of a dicarboxylic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:03:15+00:00 A dicarboxylic acid is an oxoacid containing two carboxy groups. peter owl:Class HP:0040156 biolink:NamedThing Elevated urinary carboxylic acid An increased amount of carboxylic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022413 HPO:skoehler owl:Class HP:0008591 biolink:NamedThing Congenital conductive hearing impairment A type of conductive deafness with congenital onset. tmpxe7fu0cj_hp_relaxed.owl Congenital conductive deafness|Congenital conductive hearing loss UMLS:C4021537 HP:0008525 human_phenotype owl:Class PATO:0002041 biolink:NamedThing anterior-posterior diameter A diameter that is along the anterior-posterior axis. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0001334 biolink:NamedThing diameter A length quality which is equal to the length of any straight line segment that passes through the center of a circle and whose endpoints are on the circular boundary. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0005462 biolink:NamedThing Calcification of falx cerebri The presence of calcium deposition in the falx cerebri. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1397139 human_phenotype owl:Class HP:0010653 biolink:NamedThing Abnormality of the falx cerebri An abnormality of the Falx cerebri. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the cerebral falx UMLS:C4021247 The falx cerebri refers to the fold of dura mater which descends vertically in the longitudinal fissure between the cerebral hemispheres. peter 2010-02-25T10:32:52Z human_phenotype owl:Class UBERON:0003338 biolink:NamedThing ganglion of peripheral nervous system A spatially aggregated collection of nerve cell bodies in the PNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections. (CUMBO). tmpxe7fu0cj_hp_relaxed.owl peripheral nervous system ganglion BTO:0001123|BIRNLEX:2548|EMAPA:32814|MA:0001161 uberon owl:Class we follow MA in including separate classes for ganglion and peripheral nervous system, even though for vertebrates gangia are always in the PNS UBERON:0003647 biolink:NamedThing metacarpal bone of digit 3 A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 3[Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hand digit 3 metacarpal bone|metacarpal bone of digit III|metacarpal bone of third finger|finger 3 metacarpus|third metacarpal bone|metacarpal bone of 3 rd finger|third finger metacarpal|metacarpal bone of 3 rd digit of hand|third finger metacarpal bone|forelimb cannon bone|3 rd finger metacarpal bone|metacarpal bone of hand digit 3|3 rd digit of hand metacarpal bone|metacarpal of hand digit 3|metacarpal III|hand digit 3 metacarpal|3 rd finger metacarpal|metacarpal bone digit 3|metacarpal of 3 rd digit of hand|forelimb digit 3 metacarpus|3 rd digit of hand metacarpal|metacarpal 3|metacarpal of third finger|manual digit 3 metacarpus|metacarpal of 3 rd finger MA:0001366|AAO:0000854|UMLS:C1708989|NCIT:C52794|EMAPA:19116|FMA:23901 uberon owl:Class Dumb-bell-shaped bone of endochondral origin with cartilaginous epiphyses that articulates with carpal 3(2) proximally and with the proximal phalanx of digit III(II) distally.[AAO]|The third metacarpal bone (metacarpal bone of the middle finger) is a little smaller than the second. The dorsal aspect of its base presents on its radial side a pyramidal eminence, the styloid process, which extends upward behind the capitate; immediately distal to this is a rough surface for the attachment of the extensor carpi radialis brevis muscle. The carpal articular facet is concave behind, flat in front, and articulates with the capitate. On the radial side is a smooth, concave facet for articulation with the second metacarpal, and on the ulnar side two small oval facets for the fourth metacarpal[Wikipedia:Third_metacarpal_bone]. 3 UBERON:0013583 biolink:NamedThing metapodium bone 3 A metapodial bone that is associated with digit III. tmpxe7fu0cj_hp_relaxed.owl metapodium III|metapodial bone III|cannon bone|metapodium 3|3rd metapodium bone uberon owl:Class GO:0070229 biolink:NamedThing negative regulation of lymphocyte apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte death by apoptotic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of lymphocyte apoptosis|downregulation of lymphocyte apoptosis|down regulation of lymphocyte apoptosis|inhibition of lymphocyte apoptosis|down-regulation of lymphocyte apoptosis Note that a lymphocyte is a cell of the B cell, T cell, or natural killer cell lineage (CL:0000542). biological_process owl:Class GO:0006820 biolink:NamedThing anion transport The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl GO:0006822 biological_process owl:Class HP:0033415 biolink:NamedThing Cardiac tamponade The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 16:39:14+00:00 The diagnosis of cardiac tamponade is a clinical diagnosis that requires prompt recognition and treatment to prevent cardiovascular collapse and cardiac arrest. peter owl:Class UBERON:0019306 biolink:NamedThing nose epithelium tmpxe7fu0cj_hp_relaxed.owl EMAPA:35958|MA:0003171 uberon owl:Class UBERON:0019304 biolink:NamedThing sensory organ epithelium tmpxe7fu0cj_hp_relaxed.owl MA:0003174|EMAPA:35952 uberon owl:Class CHEBI:16080 biolink:NamedThing gamma-amino-beta-hydroxybutyric acid A gamma-amino acid comprising 4-aminobutyric acid having a 2-hydroxy substituent. tmpxe7fu0cj_hp_relaxed.owl 3-hydroxy-GABA|4-amino-3-hydroxybutanoic acid|4-amino-3-hydroxybutyric acid|4-Amino-3-hydroxybutanoic acid|GABOB|gamma-Amino-beta-hydroxybutyric acid 0 C4H9NO3 InChI=1S/C4H9NO3/c5-2-3(6)1-4(7)8/h3,6H,1-2,5H2,(H,7,8) YQGDEPYYFWUPGO-UHFFFAOYSA-N 119.11920 119.05824 NCC(O)CC(O)=O KEGG:C03678|KEGG:D00174|Drug_Central:1263|Beilstein:1752568|CAS:352-21-6|Beilstein:1721708 CHEBI:1780|CHEBI:20311 chebi_ontology owl:Class CHEBI:33707 biolink:NamedThing gamma-amino acid A non-proteinogenic amino-acid in which the amino group is located on the carbon atom at the position gamma to the carboxy group. tmpxe7fu0cj_hp_relaxed.owl gamma-amino acid|gamma-amino acids chebi_ontology owl:Class HP:0000040 biolink:NamedThing Long penis Penile length more than 2 SD above the mean for age. tmpxe7fu0cj_hp_relaxed.owl Long penis|Enlarged penis UMLS:C0269011|SNOMEDCT_US:88673001 Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. human_phenotype owl:Class HP:0000036 biolink:NamedThing Abnormal penis morphology Abnormality of the male external sex organ. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the penis UMLS:C4025896 owl:Class CHEBI:26932 biolink:NamedThing tetrapyrrole A natural pigment containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. tmpxe7fu0cj_hp_relaxed.owl a tetrapyrrole|tetrapyrroles|tetrapyrrole chebi_ontology owl:Class CHEBI:38077 biolink:NamedThing polypyrrole A compound composed of two or more pyrrole units. tmpxe7fu0cj_hp_relaxed.owl PPys|polypyrroles|poly(pyrrole)s Beilstein:8538310 chebi_ontology owl:Class GO:0030098 biolink:NamedThing lymphocyte differentiation The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. tmpxe7fu0cj_hp_relaxed.owl lymphocyte cell differentiation|lymphocyte development|lymphocytic blood cell differentiation Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. GO:0046650 biological_process owl:Class GO:0046649 biolink:NamedThing lymphocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0011627 biolink:NamedThing Aorto-ventricular tunnel Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023262 peter 2012-04-09T08:29:49Z human_phenotype owl:Class HP:0001679 biolink:NamedThing Abnormal aortic morphology An abnormality of the aorta. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the aorta|Abnormal aorta morphology Fyler:1453|UMLS:C4025756 HP:0030963 owl:Class CL:0005022 biolink:NamedThing vascular lymphangioblast Lymphatic progenitor cells, derived from the veins, that give rise to lymphatic endothelial cells. tmpxe7fu0cj_hp_relaxed.owl parachordal lymphangioblast Ceri 2012-01-12T05:21:09Z cell owl:Class CL:0005020 biolink:NamedThing lymphangioblast Lymphatic progenitor cells. tmpxe7fu0cj_hp_relaxed.owl Usually express Prox1, or prox1b. Ceri 2012-01-12T04:44:34Z cell owl:Class HP:0010962 biolink:NamedThing Extralobar sequestration A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023626 Extralobar sequestration (ELS) may be asymptomatic. Infants with symptomatic lesions may present with respiratory distress, pneumonia, feeding difficulties, hemorrhage, or even congestive heart failure. The sequestered lobe may cause substantial arteriovenous shunting, leading to high-output cardiac failure. peter 2011-01-18T12:36:55Z human_phenotype owl:Class PATO:0000122 biolink:NamedThing length A 1-D extent quality which is equal to the distance between two points. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0001708 biolink:NamedThing 1-D extent A size quality inhering in an bearer by virtue of the bearer's extension in one dimension. tmpxe7fu0cj_hp_relaxed.owl 1-D size quality owl:Class GO:0008406 biolink:NamedThing gonad development The process whose specific outcome is the progression of the gonad over time, from its formation to the mature structure. The gonad is an animal organ that produces gametes; in some species it also produces hormones. tmpxe7fu0cj_hp_relaxed.owl gonadogenesis biological_process owl:Class GO:0048513 biolink:NamedThing animal organ development Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. tmpxe7fu0cj_hp_relaxed.owl organogenesis|development of an organ Wikipedia:Organogenesis biological_process owl:Class HP:0033640 biolink:NamedThing Acetabular erosions Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint. tmpxe7fu0cj_hp_relaxed.owl 2021-02-24 12:37:00+00:00 peter owl:Class HP:0003170 biolink:NamedThing Abnormal acetabulum morphology An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the hipbone socket|Acetabular abnormality|Abnormality of the acetabulum UMLS:C4021739 owl:Class UBERON:0015113 biolink:NamedThing distal tarsal bone 4 pre-cartilage condensation A distal tarsal bone 4 endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0015111 biolink:NamedThing distal tarsal bone 4 endochondral element tmpxe7fu0cj_hp_relaxed.owl distal tarsal 4 uberon owl:Class HP:0006913 biolink:NamedThing Frontal cortical atrophy Atrophy of the frontal cortex. tmpxe7fu0cj_hp_relaxed.owl Frontal cortex degeneration UMLS:C4024965 human_phenotype owl:Class HP:0002120 biolink:NamedThing Cerebral cortical atrophy Atrophy of the cortex of the cerebrum. tmpxe7fu0cj_hp_relaxed.owl Decrease in size of the outer layer of the brain due to loss of brain cells|Cortical atrophy|Cerebral cortex atrophy SNOMEDCT_US:278849000|UMLS:C0235946 Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging. HP:0006823|HP:0006835 owl:Class HP:0005576 biolink:NamedThing Tubulointerstitial fibrosis A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy. tmpxe7fu0cj_hp_relaxed.owl Tubulointerstitial scarring|Tubulointerstitial renal fibrosis UMLS:C1969372 This finding is usually shown by renal biopsy. Fibrosis involves an excess accumulation of extracellular matrix and usually results in loss of function when normal tissue is replaced with scar tissue. Tubulointerstitial renal fibrosis, characterized as a progressive detrimental connective tissue deposition on the kidney parenchyma, appears to be a harmful process leading inevitably to renal function deterioration, independently of the primary renal disease which causes the original kidney injury. Epithelial to Mesenchymal Transition (EMT) of tubular epithelial cells which are transformed to mesenchymal fibroblasts migrating to adjacent interstitial parenchyma constitutes the principal mechanism of renal fibrosis along with local and circulating cells. (PMID:20011086) HP:0004714|HP:0008171|HP:0000129 human_phenotype owl:Class HP:0030760 biolink:NamedThing Renal fibrosis Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. tmpxe7fu0cj_hp_relaxed.owl Kidney fibrosis SNOMEDCT_US:197660000|UMLS:C0151650 owl:Class HP:0100277 biolink:NamedThing Periauricular skin pits Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. tmpxe7fu0cj_hp_relaxed.owl Periauricular sinus|Periauricular pits|Periauricular fistulas|Periauricular earpits|Pits around the ear UMLS:C4022171 doelkens 2010-08-05T10:54:32Z human_phenotype owl:Class HP:0100276 biolink:NamedThing Skin pit A small, skin-lined tract that leads from the surface to deep within the tissues. tmpxe7fu0cj_hp_relaxed.owl Skin pit|Skin pits UMLS:C4020712|UMLS:C4022172 doelkens 2010-08-05T10:51:32Z human_phenotype owl:Class HP:0032859 biolink:NamedThing Focal impaired awareness motor seizure with paresis/paralysis A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal motor impaired awareness seizure with paresis/paralysis peter owl:Class HP:0032721 biolink:NamedThing Focal motor seizure with paresis/paralysis A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0004633 biolink:NamedThing thoracic vertebra 9 The ninth thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl ninth thoracic vertebra|Ninth dorsal vertebra|T9 vertebra EMAPA:19550|MA:0001446|NCIT:C33731|FMA:10014|UMLS:C0459954 elements are to be defined spatially/topologically uberon owl:Class HP:0010412 biolink:NamedThing Duplication of the middle phalanx of the 2nd toe Partial or complete duplication of middle phalanx of second toe. tmpxe7fu0cj_hp_relaxed.owl Duplication of middle bone of 2nd toe|Partial/complete duplication of the middle phalanx of the 2nd toe UMLS:C4021273 doelkens 2009-07-16T12:43:52Z human_phenotype owl:Class HP:0010355 biolink:NamedThing Duplication of the phalanges of the 2nd toe Partial or complete duplication of a phalanx of second toe. tmpxe7fu0cj_hp_relaxed.owl Duplication of the bones of the 2nd toe|Partial/complete duplication of the phalanges of the 2nd toe UMLS:C4021286 doelkens 2009-07-16T11:45:34Z human_phenotype owl:Class HP:0011226 biolink:NamedThing Aplasia/Hypoplasia of the eyelid Absence or underdevelopment of the eyelid. tmpxe7fu0cj_hp_relaxed.owl Hypotrophic eyelid|Failure of development of eyelid UMLS:C4023453 peter 2011-12-13T08:38:23Z human_phenotype owl:Class HP:0000492 biolink:NamedThing Abnormal eyelid morphology An abnormality of the eyelids. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the eyelids|Abnormality of the eyelid UMLS:C4021803 HP:0000285 owl:Class HP:0009532 biolink:NamedThing Small epiphysis of the proximal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Small end part of proximal long bond of index finger UMLS:C4024304 doelkens 2009-01-16T01:12:34Z human_phenotype owl:Class HP:0009496 biolink:NamedThing Small epiphyses of the 2nd finger Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of the index finger UMLS:C4024330 doelkens 2009-01-16T01:07:16Z human_phenotype owl:Class UBERON:0010214 biolink:NamedThing cricoid pre-cartilage condensation tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000327 uberon owl:Class UBERON:0010213 biolink:NamedThing laryngeal pre-cartilage condensation tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0034042 biolink:NamedThing Dorsal hirsutism Abnormally increased hair growth in the lskin of the back. tmpxe7fu0cj_hp_relaxed.owl 2021-10-02 12:18:04+00:00 peter owl:Class HP:0009889 biolink:NamedThing Localized hirsutism Abnormally increased hair growth with a localized distribution. tmpxe7fu0cj_hp_relaxed.owl Localized abnormal hair growth|Localised abnormal hair growth|Localised hirsutism UMLS:C4024170 peter 2009-04-30T06:29:20Z owl:Class HP:0007110 biolink:NamedThing Central hypoventilation tmpxe7fu0cj_hp_relaxed.owl UMLS:C3805839 owl:Class HP:0002791 biolink:NamedThing Hypoventilation A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). tmpxe7fu0cj_hp_relaxed.owl Under breathing|Slow breathing|Respiratory depression|Alveolar hypoventilation UMLS:C0235063|UMLS:C3203358|SNOMEDCT_US:15993004|MSH:D012131|SNOMEDCT_US:80954004|SNOMEDCT_US:31515003|MSH:D007040 Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal. HP:0004892 owl:Class HP:0012223 biolink:NamedThing Splenic rupture A breach of the capsule of the spleen. tmpxe7fu0cj_hp_relaxed.owl Splenic rupture|Ruptured spleen SNOMEDCT_US:234506007|UMLS:C0038000|MSH:D013161 peter 2013-03-30T07:23:49Z human_phenotype owl:Class HP:0025408 biolink:NamedThing Abnormal spleen morphology Any anomaly of the structure of the spleen. tmpxe7fu0cj_hp_relaxed.owl Splenic lesion 2017-04-23 10:55:52+00:00 HPO:probinson owl:Class HP:0032750 biolink:NamedThing Focal impaired awareness emotional seizure with laughing Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0010821 biolink:NamedThing Focal emotional seizure with laughing Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'. tmpxe7fu0cj_hp_relaxed.owl Gelastic seizure|Gelastic seizures SNOMEDCT_US:89525009|MSH:D004828|UMLS:C0270820 This seizure type is characteristic of seizures arising in the hypothalamus (see hypothalamic hamartoma), but can occur in seizures arising in the frontal or temporal lobes. peter 2010-07-10T03:27:12Z human_phenotype owl:Class UBERON:0014791 biolink:NamedThing musculature of forelimb stylopod Any collection of muscles that is part of the forelimb stylopod region [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscle group of arm|musculature of arm|arm musculature|set of muscles of arm FMA:50202 uberon owl:Class UBERON:0004474 biolink:NamedThing musculature of arm Any collection of muscles that is part of an arm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscle group of arm|set of muscles of arm|arm muscle system|arm musculature EHDAA2:0000141 uberon owl:Class PR:P26952 biolink:NamedThing interleukin-3 receptor subunit alpha (mouse) An interleukin-3 receptor class 2 alpha chain that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl IL-3 receptor subunit alpha (mouse)|Sut-1|Il3ra|mIL3RA|IL-3R-alpha (mouse)|CD123 (mouse)|interleukin-3 receptor class II alpha chain (mouse)|IL-3RA (mouse)|IL-3R subunit alpha (mouse) UniProtKB:P26952 Category=organism-gene. protein owl:Class CL:0000798 biolink:NamedThing gamma-delta T cell A T cell that expresses a gamma-delta T cell receptor complex. tmpxe7fu0cj_hp_relaxed.owl gamma-delta T-cell|gamma-delta T-lymphocyte|gamma-delta T lymphocyte|gammadelta T cell|gd T cell Note that gamma-delta T cells have both thymic and extrathymic differentiation pathways. cell owl:Class CL:0000084 biolink:NamedThing T cell A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. tmpxe7fu0cj_hp_relaxed.owl mature T cell|immature T cell|T lymphocyte|T-lymphocyte|T-cell CALOHA:TS-1001|VHOG:0001479|FMA:62870|BTO:0000782 CL:0000812|CL:0000804 cell owl:Class GO:0002440 biolink:NamedThing production of molecular mediator of immune response The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels. tmpxe7fu0cj_hp_relaxed.owl production of cellular mediator of immune response Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select one of the 'regulation' children terms. biological_process owl:Class GO:0010467 biolink:NamedThing gene expression The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/22557 Wikipedia:Gene_expression biological_process owl:Class HP:0002947 biolink:NamedThing Cervical kyphosis Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. tmpxe7fu0cj_hp_relaxed.owl Rounded neck SNOMEDCT_US:298393001|UMLS:C0575170 human_phenotype owl:Class HP:0002808 biolink:NamedThing Kyphosis Exaggerated anterior convexity of the thoracic vertebral column. tmpxe7fu0cj_hp_relaxed.owl Hunched back|Gibbus deformity|Hyperkyphosis|Round back UMLS:C0022821|MSH:D007738|UMLS:C1845112|SNOMEDCT_US:414564002 HP:0002769|HP:0003314 human_phenotype owl:Class NCBITaxon:33511 biolink:NamedThing Deuterostomia tmpxe7fu0cj_hp_relaxed.owl deuterostomes GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33213 biolink:NamedThing Bilateria tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0040195 biolink:NamedThing Decreased head circumference An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. tmpxe7fu0cj_hp_relaxed.owl Decreased head circumference SNOMEDCT_US:271611007|UMLS:C0424688 Although HC measures skull size, it typically also reflects overall brain volume and has been described as a widely used proxy of neural growth and brain size. Brain size outside of normal values is an important risk factor for cognitive and motor delay. Microcephaly at birth has been termed primary microcephaly and that acquired after birth is secondary microcephaly. owl:Class HP:0000240 biolink:NamedThing Abnormality of skull size Any abnormality of the size of the skull. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cranium size|Abnormality of head size|Abnormality of skull size UMLS:C4025874 human_phenotype owl:Class UBERON:0011119 biolink:NamedThing carpometacarpal joint The carpometacarpal joints (CMC) are joints in the wrist that articulates the distal row of carpal bones and the proximal bases of the metacarpal bones. tmpxe7fu0cj_hp_relaxed.owl articulationes carpometacarpeæ|carpometacarpal articulation|carpometacarpal|CMJ NCIT:C32265|UMLS:C0224620|FMA:35287 http://upload.wikimedia.org/wikipedia/commons/7/7c/Gray335.png uberon owl:Class HP:0040171 biolink:NamedThing Decreased serum testosterone concentration tmpxe7fu0cj_hp_relaxed.owl Decreased serum testosterone level|Decreased testosterone|Low serum testosterone levels|Low serum testosterone level|Decreased serum testosterone levels SNOMEDCT_US:131078003|UMLS:C4073137|UMLS:C1295654 HPO:skoehler HP:0008230 owl:Class HP:0030349 biolink:NamedThing Decreased circulating androgen concentration A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. tmpxe7fu0cj_hp_relaxed.owl Decreased circulating androgen level UMLS:C4072894 owl:Class HP:0033457 biolink:NamedThing Elevated urine 3-methyl-2-oxovaleric acid level Increased amount of 3-methyl-2-oxovaleric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:07:04+00:00 peter owl:Class HP:0033456 biolink:NamedThing Elevated urine keto acid level Increased amount of a keta acid in the urine. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:05:22+00:00 A keta acid is a compound whose molecule contains both a carboxyl group (-COOH) and a ketone group (-CO-). peter owl:Class GO:0030852 biolink:NamedThing regulation of granulocyte differentiation Any process that modulates the frequency, rate or extent of granulocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0002761 biolink:NamedThing regulation of myeloid leukocyte differentiation Any process that modulates the frequency, rate, or extent of myeloid leukocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0031090 biolink:NamedThing organelle membrane A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. tmpxe7fu0cj_hp_relaxed.owl intracellular membrane NIF_Subcellular:sao830981606 cellular_component owl:Class GO:0016020 biolink:NamedThing membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. tmpxe7fu0cj_hp_relaxed.owl whole membrane|membrane region|region of membrane Wikipedia:Biological_membrane 2014-03-06T11:37:54Z GO:0098805|GO:0098589 cellular_component owl:Class GO:0021534 biolink:NamedThing cell proliferation in hindbrain The multiplication or reproduction of cells, resulting in the expansion of a cell population in the hindbrain. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0061351 biolink:NamedThing neural precursor cell proliferation The multiplication or reproduction of neural precursor cells, resulting in the expansion of a cell population. A neural precursor cell is either a nervous system stem cell or a nervous system progenitor cell. tmpxe7fu0cj_hp_relaxed.owl dph 2010-10-01T11:06:04Z biological_process owl:Class HP:0000643 biolink:NamedThing Blepharospasm A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids. tmpxe7fu0cj_hp_relaxed.owl Eyelid twitching|Spontaneous closure of eyelid|Eyelid spasm|Involuntary closure of eyelid UMLS:C0005747|MSH:D001764|SNOMEDCT_US:59026006 HP:0007907 human_phenotype owl:Class HP:0012179 biolink:NamedThing Craniofacial dystonia A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. tmpxe7fu0cj_hp_relaxed.owl Facial Dystonia|Abnormal craniofacial muscle tone|Distorted craniofacial posture|Abnormal facial muscle tone|Abnormal craniofacial posture UMLS:C1851915|UMLS:C4023011|UMLS:C4072883 peter 2013-02-23T10:10:32Z human_phenotype owl:Class HP:0000244 biolink:NamedThing Brachyturricephaly Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region. tmpxe7fu0cj_hp_relaxed.owl Brachy-turricephaly|Turribrachycephaly|High, prominent forehead UMLS:C1857484 human_phenotype owl:Class HP:0000248 biolink:NamedThing Brachycephaly An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. tmpxe7fu0cj_hp_relaxed.owl Wide cranium shape|Broad cranium shape|Broad head shape|Short and broad skull|Broad skull shape|Wide skull shape|Wide head shape SNOMEDCT_US:13649004|UMLS:C0221356|UMLS:C4072823|UMLS:C4072824|MSH:D003398 Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately. HP:0008512|HP:0002258|HP:0004479 human_phenotype owl:Class CHEBI:52254 biolink:NamedThing apatite tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:46723 biolink:NamedThing phosphate mineral tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0005724 biolink:NamedThing roof plate spinal cord region A tissue that is part of a spinal cord and is part of a roof plate. tmpxe7fu0cj_hp_relaxed.owl spinal cord roof|roofplate spinal cord|roof plate spinal cord XAO:0000022|EMAPA:17586|VHOG:0000777|ZFA:0001177|TAO:0001177 UBERON:0005246 uberon owl:Class Roof plate that is part of the spinal cord. [Bgee_curator][VHOG] UBERON:0003527 biolink:NamedThing kidney capillary A capillary that is part of a kidney [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood capillary of kidney|kidney capillary vessel|capillary vessel of kidney|capillary of kidney|renal capillary|kidney blood capillary EMAPA:31443|MA:0002586 uberon owl:Class UBERON:0003517 biolink:NamedThing kidney blood vessel A blood vessel that is part of a kidney [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl renal blood vessel|blood vessel of kidney TAO:0005306|EMAPA:28457|ZFA:0005306|MA:0001682 uberon owl:Class UBERON:0004830 biolink:NamedThing respiratory system skeletal muscle A portion of skeletal muscle tissue that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl skeletal muscle of respiratory system|skeletal muscle of apparatus respiratorius|skeletal muscle tissue of apparatus respiratorius|respiratory system skeletal muscle tissue|skeletal muscle tissue of respiratory system EMAPA:37583|MA:0001829 uberon owl:Class UBERON:0001134 biolink:NamedThing skeletal muscle tissue Muscle tissue that consists primarily of skeletal muscle fibers. tmpxe7fu0cj_hp_relaxed.owl somatic muscle|skeletal muscle system|skeletal muscle FMA:14069|UMLS:C0242692|MA:0002439|EMAPA:32716|NCIT:C13050|SCTID:426215008|Wikipedia:Skeletal_striated_muscle Skeletal:muscle.jpg TODO - add skeletal muscle organ? See GO:0060538 skeletal muscle organ development. Todo - group FBbt:00005073 - somatic muscle. uberon owl:Class Muscle, composed of long cylindrical, multinucleated cells that attaches to the skeleton via tendons.[TAO]|Tissue which consists of skeletal muscle fibers surrounded by endomysium. Examples: Skeletal muscle tissue of biceps, Skeletal muscle tissue of diaphragm[FMA] This result implies the following views in terms of evolutionary differentiation: (1) Arthropod striated muscle and vertebrate skeletal and cardiac muscles share a common ancestor. In other words, they did not evolve independently (...) (5) The divergence of vertebrate skeletal and cardiac muscles/vertebrate smooth muscle and nonmuscle is at least before that of vertebrates/arthropods. In other words, emergence of skeletal and cardiac musle type tissues preceded the vertebrate/arthropod divergence (ca. 700 MYA).[well established][VHOG] GO:0010628 biolink:NamedThing positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/22557 biological_process owl:Class GO:0010604 biolink:NamedThing positive regulation of macromolecule metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0007576 biolink:NamedThing Palmar neurofibromas tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024841 human_phenotype owl:Class HP:0045010 biolink:NamedThing Abnormality of peripheral nerves tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022400 HPO:skoehler owl:Class HP:0012620 biolink:NamedThing Cloacal abnormality A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022816 peter 2014-01-17T12:27:06Z human_phenotype owl:Class HP:0010866 biolink:NamedThing Abdominal wall defect An incomplete closure of the abdominal wall. tmpxe7fu0cj_hp_relaxed.owl Congenital anterior abdominal wall defect|Abdominal wall defect UMLS:C0238577 peter 2010-08-03T09:55:15Z human_phenotype owl:Class HP:0033558 biolink:NamedThing Anti-histone antibody positivity The presence of autoantibodies in the blood circulation that react against histone antigens. tmpxe7fu0cj_hp_relaxed.owl 2021-01-23 12:10:03+00:00 Anti-histone antibodies are found in the serum of up to 75-95% of people with drug-induced lupus and 75% of idiopathic SLE and less frequently in scleroderma, rheumatoid arthritis and undifferentiated connective tissue disease. peter owl:Class HP:0003493 biolink:NamedThing Antinuclear antibody positivity The presence of autoantibodies in the serum that react against nuclei or nuclear components. tmpxe7fu0cj_hp_relaxed.owl Serum antinuclear antibody|Antinuclear antibodies|Antinuclear antibody positive|Elevated antinuclear antibody UMLS:C0151480|SNOMEDCT_US:165850001 Antinuclear antibodies (ANAs) are found in patients with a number of different autoimmune diseases, such as systemic lupus erythematosus, Sjogren's syndrome, rheumatoid arthritis, polymyositis, scleroderma, Hashimoto's thyroiditis, juvenile diabetes mellitus, Addison disease, vitiligo, pernicious anemia, glomerulonephritis, and pulmonary fibrosis. ANAs can display various staining patterns such as homogeneous or diffuse; speckled; nucleolar; and peripheral or rim. owl:Class HP:0007450 biolink:NamedThing Increased groin pigmentation with raindrop depigmentation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024875 human_phenotype owl:Class HP:0007400 biolink:NamedThing Irregular hyperpigmentation tmpxe7fu0cj_hp_relaxed.owl UMLS:C1860236 human_phenotype owl:Class HP:0012720 biolink:NamedThing Neoplasm of the nose Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity. tmpxe7fu0cj_hp_relaxed.owl Neoplasia of the nose|Tumour of the nose|Tumor of the nose|Nasal tumor|Nose cancer|Nasal tumour|Nasal neoplasm SNOMEDCT_US:126669004|MSH:D009669|NCIT:C3262|UMLS:C0028433|UMLS:C0751394 peter 2014-03-23T01:16:06Z HP:0100637 human_phenotype owl:Class HP:0100630 biolink:NamedThing Neoplasia of the nasopharynx tmpxe7fu0cj_hp_relaxed.owl Tumour of the nasopharynx|Tumor of the nasopharynx|Nasopharyngeal neoplasm|Neoplasm of the nasopharynx NCIT:C3262|UMLS:C0027439|SNOMEDCT_US:126680004|MSH:D009303 doelkens 2010-12-29T02:23:48Z human_phenotype owl:Class UBERON:0005194 biolink:NamedThing thoracic vein A vein that is part of a thorax [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl NCIT:C53142|SCTID:281472008|MA:0002235|UMLS:C0226629|EMAPA:37197 uberon owl:Class UBERON:0003834 biolink:NamedThing thoracic segment blood vessel A blood vessel that is part of a thorax [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl thorax blood vessel|blood vessel of thorax|upper body blood vessel MA:0000558|EMAPA:37238 uberon owl:Class CHEBI:32656 biolink:NamedThing D-asparaginate tmpxe7fu0cj_hp_relaxed.owl D-asparaginate|(2R)-2,4-diamino-4-oxobutanoate|D-asparagine anion -1 C4H7N2O3 InChI=1S/C4H8N2O3/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H2,6,7)(H,8,9)/p-1/t2-/m1/s1 DCXYFEDJOCDNAF-UWTATZPHSA-M 131.11006 131.04622 N[C@H](CC(N)=O)C([O-])=O Gmelin:533547 chebi_ontology owl:Class CHEBI:32660 biolink:NamedThing asparaginate An alpha-amino-acid anion that is the conjugate base of asparagine, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl 2,4-diamino-4-oxobutanoate|asp(-)|asparaginate|asparagine anion -1 C4H7N2O3 InChI=1S/C4H8N2O3/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H2,6,7)(H,8,9)/p-1 DCXYFEDJOCDNAF-UHFFFAOYSA-M 131.11006 131.04622 NC(CC(N)=O)C([O-])=O Gmelin:327370 chebi_ontology owl:Class GO:0046914 biolink:NamedThing transition metal ion binding Binding to a transition metal ions; a transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class GO:0046872 biolink:NamedThing metal ion binding Binding to a metal ion. tmpxe7fu0cj_hp_relaxed.owl metal binding|heavy metal binding molecular_function owl:Class HP:0008181 biolink:NamedThing Abetalipoproteinemia An absence of low-density lipoprotein cholesterol in the blood. tmpxe7fu0cj_hp_relaxed.owl MSH:D000012|SNOMEDCT_US:190787008|UMLS:C0000744 Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. human_phenotype owl:Class HP:0003563 biolink:NamedThing Decreased LDL cholesterol concentration An decreased concentration of low-density lipoprotein cholesterol in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased LDL|Decreased circulating low-density lipoprotein levels|Hypobetalipoproteinemia|Decreased LDLc concentration UMLS:C0853085|UMLS:C0020597|SNOMEDCT_US:190786004|MSH:D006995 Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. human_phenotype owl:Class HP:0011511 biolink:NamedThing Macular schisis Splitting of the retina in the macular region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023321 This abnormality can be seen in X-linked retinoschisis. peter 2012-04-06T09:55:43Z human_phenotype owl:Class HP:0030498 biolink:NamedThing Macular thickening Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072986 owl:Class GO:0002253 biolink:NamedThing activation of immune response Any process that initiates an immune response. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0050778 biolink:NamedThing positive regulation of immune response Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. tmpxe7fu0cj_hp_relaxed.owl up regulation of immune response|upregulation of immune response|up-regulation of immune response|stimulation of immune response biological_process owl:Class GO:0031325 biolink:NamedThing positive regulation of cellular metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. tmpxe7fu0cj_hp_relaxed.owl up regulation of cellular metabolic process|positive regulation of cellular metabolism|up-regulation of cellular metabolic process|upregulation of cellular metabolic process|stimulation of cellular metabolic process|activation of cellular metabolic process biological_process owl:Class CHEBI:13941 biolink:NamedThing carbamate tmpxe7fu0cj_hp_relaxed.owl carbamate|Karbamat|Carbamat|carbamate ion|carbamic acid, ion(1-) -1 CH2NO2 InChI=1S/CH3NO2/c2-1(3)4/h2H2,(H,3,4)/p-1 KXDHJXZQYSOELW-UHFFFAOYSA-M 60.03212 60.00910 NC([O-])=O Gmelin:239604|Beilstein:3903503|CAS:302-11-4 chebi_ontology owl:Class CHEBI:37022 biolink:NamedThing amino-acid anion tmpxe7fu0cj_hp_relaxed.owl amino acid anions|amino-acid anions|amino-acid anion chebi_ontology owl:Class GO:0002283 biolink:NamedThing neutrophil activation involved in immune response The change in morphology and behavior of a neutrophil resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpxe7fu0cj_hp_relaxed.owl neutrophil activation during immune response biological_process owl:Class GO:0042119 biolink:NamedThing neutrophil activation The change in morphology and behavior of a neutrophil resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0030845 biolink:NamedThing Heliotrope rash of eyelid Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280745 Purple eyelids, which are described as heliotrope, as they resemble the heliotrope flower, e.g., Heliotropium peruvianum, which has small purple petals. Heliotrope rash is one of the characteristic skin manifestations of juvenile dermatomyositis. It is a reddish-purple rash on the upper eyelids that is usually bilateral. owl:Class HP:0040324 biolink:NamedThing Heliotrope rash In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower. tmpxe7fu0cj_hp_relaxed.owl Heliotrope erythema Heliotrope rash occurs during the initial phase of the idiopathic inflammatory myositis (particularly dermatomyositis). Heliotrope rash is a characteristic symptom of Dermatomyositis. ORCID:0000-0002-5316-1399 owl:Class UBERON:0000345 biolink:NamedThing myelin A dielectric (electrically insulating) material consisting of protein and fat that forms a layer, the myelin sheath, usually around only the axon of a neuron. Myelin is about 40 % water; the dry mass of myelin is about 70 - 85 % lipids and about 15 - 30 % proteins. Some of the proteins that make up myelin are myelin basic protein (MBP), myelin oligodendrocyte glycoprotein (MOG), and proteolipid protein (PLP). The primary lipid of myelin is a glycolipid called galactocerebroside (GalC). The intertwining hydrocarbon chains of sphingomyelin serve to strengthen the myelin sheath. tmpxe7fu0cj_hp_relaxed.owl BTO:0000894|ncithesaurus:Myelin|FMA:62977 cede to other ontology. Retired in ncit uberon owl:Class UBERON:0035539 biolink:NamedThing esophageal artery Any of several arteries that arise from the aorta and supply blood to the esophagus. tmpxe7fu0cj_hp_relaxed.owl aortic esophageal artery|oesophageal artery SCTID:56548006|NCIT:C32535|UMLS:C0226294|FMA:4149 uberon owl:Class HP:0006366 biolink:NamedThing Adductor longus contractures tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859524 human_phenotype owl:Class HP:0005750 biolink:NamedThing Contractures of the joints of the lower limbs tmpxe7fu0cj_hp_relaxed.owl Contractures, lower limbs UMLS:C1859523 owl:Class HP:0011218 biolink:NamedThing Abnormal shape of the frontal region An abnormal shape of the frontal part of the head. tmpxe7fu0cj_hp_relaxed.owl Abnormal morphology of the frontal region|Dysmorphic forehead|Abnormal shape of the forehead|Dysmorphic frontal region UMLS:C4023458 peter 2011-12-03T10:26:03Z human_phenotype owl:Class HP:0011450 biolink:NamedThing Unusual CNS infection A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection. tmpxe7fu0cj_hp_relaxed.owl Central nervous system infection UMLS:C0007684|MSH:D002494|SNOMEDCT_US:128117002 peter 2012-03-18T05:57:29Z human_phenotype owl:Class HP:0002011 biolink:NamedThing Morphological central nervous system abnormality A structural abnormality of the central nervous system. tmpxe7fu0cj_hp_relaxed.owl Central nervous system disease|Morphological abnormality of the central nervous system|Morphological abnormality of the CNS|Abnormality of the central nervous system UMLS:C0007682|MSH:D002493|UMLS:C4021765|SNOMEDCT_US:23853001 HP:0002413|HP:0002405|HP:0007319|HP:0002481 owl:Class HP:0031810 biolink:NamedThing Anti-ganglioside antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides. tmpxe7fu0cj_hp_relaxed.owl 2018-04-28 14:42:59+00:00 peter owl:Class HP:0011453 biolink:NamedThing Abnormality of the incus An abnormality of the incus, an ossicle in the middle ear. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023350 peter 2012-03-19T09:38:20Z human_phenotype owl:Class HP:0004452 biolink:NamedThing Abnormality of the middle ear ossicles An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). tmpxe7fu0cj_hp_relaxed.owl Malformed ossicles|Ossicular malformation UMLS:C1836678 HP:0001759 human_phenotype owl:Class HP:0010057 biolink:NamedThing Abnormal hallux phalanx morphology tmpxe7fu0cj_hp_relaxed.owl Abnormal big toe bones|Abnormality of the phalanges of the hallux UMLS:C4024080 doelkens 2009-05-29T12:00:08Z owl:Class HP:0030839 biolink:NamedThing Knee pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. tmpxe7fu0cj_hp_relaxed.owl Knee pain|Pain under knee cap UMLS:C0231749|SNOMEDCT_US:30989003 owl:Class HP:0012514 biolink:NamedThing Lower limb pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. tmpxe7fu0cj_hp_relaxed.owl Leg pain|Lower limb pain SNOMEDCT_US:10601006|UMLS:C0023222 peter 2013-12-08T09:10:29Z human_phenotype owl:Class HP:0033806 biolink:NamedThing Abnormal epidermis stratum granulosum morphology An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum. tmpxe7fu0cj_hp_relaxed.owl 2021-05-08 15:13:03+00:00 peter owl:Class HP:0011124 biolink:NamedThing Abnormal epidermal morphology An abnormality of the morphology of the epidermis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of epidermal morphology UMLS:C4023526 peter 2011-06-12T10:11:28Z owl:Class GO:2001028 biolink:NamedThing positive regulation of endothelial cell chemotaxis Any process that activates or increases the frequency, rate or extent of endothelial cell chemotaxis. tmpxe7fu0cj_hp_relaxed.owl rl 2011-08-22T01:07:34Z biological_process owl:Class GO:0010595 biolink:NamedThing positive regulation of endothelial cell migration Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0030052 biolink:NamedThing Inguinal freckling The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. tmpxe7fu0cj_hp_relaxed.owl Freckles in groin region UMLS:C1834297 owl:Class HP:0001480 biolink:NamedThing Freckling The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. tmpxe7fu0cj_hp_relaxed.owl Freckling UMLS:C0016689|SNOMEDCT_US:403536009|SNOMEDCT_US:699225003|MSH:D008548 human_phenotype owl:Class HP:0025714 biolink:NamedThing Cerebral cortical microinfarct An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions. tmpxe7fu0cj_hp_relaxed.owl See figure 1 of PMID:10867785. peterrobinson owl:Class HP:0002538 biolink:NamedThing Abnormal cerebral cortex morphology Any structural abnormality of the cerebral cortex. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the cerebral cortex UMLS:C4025701 The cerebral cortex constitutes more than half the volume of the human brain and is presumed to be responsible for the neuronal computations underlying complex phenomena, such as perception, thought, language, attention, episodic memory and voluntary movement. owl:Class UBERON:0000054 biolink:NamedThing macula Thickened areas of the saccule or utricle where the termination of the vestibular nerve occurs[MESH,modified]. tmpxe7fu0cj_hp_relaxed.owl macula|acoustic maculae|sensory patch|maculae|sensory macula|acoustic macula MESH:D008267|GAID:777|ZFA:0000386|TAO:0000386 this refers to the inner ear structure, not the macula of the retina. We follow ZFA in including a grouping class for the macula of utricle and sacule uberon owl:Class Patches of thickened, pseudostratified epithelium of the inner ear, consisting of regular arrays of sensory hair cells interspersed with supporting cells. Each patch has its own charcteristic shape and polarity pattern. (See Anatomical Atlas entry for sensory patches of the ear by T. Whitfield.)[TAO] macular HP:0012797 biolink:NamedThing Lymphatic vessel neoplasm A benign or malignant neoplasm arising from the lymphatic vessels. tmpxe7fu0cj_hp_relaxed.owl Lymphatic vessel tumour|Lymphatic vessel tumor UMLS:C0206619|SNOMEDCT_US:115236002|MSH:D018190|NCIT:C3262 peter 2014-05-24T05:00:34Z human_phenotype owl:Class HP:0100766 biolink:NamedThing Abnormal lymphatic vessel morphology A structural anomaly of the vessel that contains or conveys lymph fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the lymphatic vessels UMLS:C4021974 doelkens 2011-06-07T10:44:54Z owl:Class UBERON:0002416 biolink:NamedThing integumental system Connected anatomical system that forms a barrier between an animal and its environment. In vertebrates, the integumental system consists of the epidermis, dermis plus associated glands and adnexa such as hair and scales. In invertebrates, the integumental system may include cuticle. tmpxe7fu0cj_hp_relaxed.owl body surface|external covering of organism|integumentum commune|organism surface|surface|dermal system|integumentary system XAO:0000176|EHDAA:6520|EV:0100151|galen:Surface|EHDAA2:0000836|MAT:0000033|EFO:0000807|NCIT:C12907|SCTID:361692004|MA:0000014|MIAA:0000033|BILA:0000118|HAO:0000421|AEO:0000154|MESH:D034582|FBbt:00004969|EMAPA:17524|CALOHA:TS-1299|FMA:72979|Wikipedia:Integumentary_system|VHOG:0000403|CARO:0002001|EHDAA2_RETIRED:0003154|TADS:0000108|UMLS:C0037267 UBERON:0007029 uberon owl:Class (...) the integument of many tetrapods is reinforced by a morphologically and structurally diverse assemblage of skeletal elements. These elements are widely understood to be derivatives of the once all-encompassing dermal skeleton of stem-gnathostomes (...).[well established][VHOG] GO:2000668 biolink:NamedThing regulation of dendritic cell apoptotic process Any process that modulates the frequency, rate or extent of dendritic cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of dendritic cell apoptosis pr 2011-05-09T07:34:16Z biological_process owl:Class HP:0006495 biolink:NamedThing Aplasia/Hypoplasia of the ulna Absence or underdevelopment of the ulna. tmpxe7fu0cj_hp_relaxed.owl Absent/small ulna|Hypoplasia or unilateral/bilateral absence of ulna|ulnar hypoplasia/aplasia|Absence/underdevelopment of inner forearm bone|Absent-hypoplastic ulnae UMLS:C1865571 peter 2008-03-28T06:15:00Z HP:0006410|HP:0005097|HP:0006372 human_phenotype owl:Class HP:0002997 biolink:NamedThing Abnormality of the ulna An abnormality of the ulna bone of the forearm. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025662 human_phenotype owl:Class HP:0030543 biolink:NamedThing Unaided visual acuity 0.8 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073017 owl:Class HP:0030533 biolink:NamedThing Abnormal unaided visual acuity test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073007 owl:Class UBERON:0003839 biolink:NamedThing forelimb joint A limb joint that is part of a forelimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl forelimb joint of limb|anteriormost limb limb joint|fore limb joint of limb|superior member joint of limb|superior member limb joint|joint of limb of superior member|joint of limb of forelimb|limb joint of anteriormost limb|fore limb limb joint|joint of limb of upper extremity|wing joint|limb joint of superior member|joint of free upper limb|limb joint of fore limb|forelimb limb joint|limb joint of upper extremity|upper extremity limb joint|joint of limb of fore limb|anteriormost limb joint of limb|joint of limb of anteriormost limb|limb joint of forelimb|upper extremity joint of limb EMAPA:19204|MA:0000614 uberon owl:Class UBERON:0003657 biolink:NamedThing limb joint Any joint that is part of a (free) limb. tmpxe7fu0cj_hp_relaxed.owl joint of limb skeletal system|skeletal limb joint|joint of limb galen:LimbJoint|FMA:321558|EMAPA:36501|MA:0000691 Most limb joints are synovial, but a few such as the tibiofibular joints are syndesmoses uberon owl:Class HP:0010364 biolink:NamedThing Patchy sclerosis of 3rd toe phalanx Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Patchy sclerosis of the phalanges of the 3rd toe|Uneven increase in bone density in 3rd toe bone UMLS:C4021283 doelkens 2009-07-16T11:51:17Z human_phenotype owl:Class HP:0010178 biolink:NamedThing Patchy sclerosis of toe phalanx Uneven (irregular) increase in bone density of one or more of the phalanges of the foot. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in toe bone|Patchy sclerosis of the phalanges of the toes UMLS:C4021329 doelkens 2009-05-29T01:39:26Z human_phenotype owl:Class GO:2000175 biolink:NamedThing negative regulation of pro-T cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of pro-T cell differentiation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of pro-T lymphocyte differentiation mah 2010-10-11T10:24:33Z biological_process owl:Class GO:0045581 biolink:NamedThing negative regulation of T cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of T-lymphocyte differentiation|downregulation of T cell differentiation|negative regulation of T cell development|down regulation of T cell differentiation|negative regulation of T lymphocyte differentiation|negative regulation of T-cell differentiation|down-regulation of T cell differentiation|inhibition of T cell differentiation Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. biological_process owl:Class UBERON:0001600 biolink:NamedThing tensor tympani The larger of the two muscles of the tympanic cavity, is contained in the bony canal above the osseous portion of the auditory tube. Its role is to dampen sounds produced from chewing. It arises from the cartilaginous portion of the auditory tube and the adjoining part of the great wing of the sphenoid, as well as from the osseous canal in which it is contained. Passing backward through the canal, it ends in a slender tendon which enters the tympanic cavity, makes a sharp bend around the extremity of the septum, known as the processus cochleariformis[1], and is inserted into the manubrium of the malleus, near its root[WP]. tmpxe7fu0cj_hp_relaxed.owl M. tensor tympani|tensor tympani muscle|eustachian muscle|musculus tensor tympani|tympanic muscle EMAPA:18587|NCIT:C33748|EHDAA2:0002002|EHDAA:10167|GAID:166|MESH:D013719|VHOG:0000698|EHDAA:10191|UMLS:C0039529|FMA:49028|MA:0001221 http://upload.wikimedia.org/wikipedia/commons/8/82/Gray912.png UBERON:0005238 uberon owl:Class The division of the adductor mandibulae in the various lines of tetrapod evolution correlates with divergences in their methods of feeding. (...) As the jaws become stronger and their movements more complex in the line of evolution toward mammals, the adductor complex becomes divided into several distinct muscles (temporalis, masseter, pterygoideus, tensor tympani, tensor veli palati).[well established][VHOG] UBERON:0018544 biolink:NamedThing trigeminal nerve muscle Muscle innervated by the trigeminal nerve (Cranial Nerve V). tmpxe7fu0cj_hp_relaxed.owl muscle innervated by the trigeminal nerve|muscles innervated by the trigeminal nerve MFMO:0000072 uberon owl:Class GO:0098528 biolink:NamedThing skeletal muscle fiber differentiation The process in which a relatively unspecialized cell acquires specialized features of a skeletal muscle fiber cell. Skeletal muscle fiber differentiation starts with myoblast fusion and the appearance of specific cell markers (this is the cell development step). Then individual skeletal muscle fibers fuse to form bigger myotubes and start to contract. tmpxe7fu0cj_hp_relaxed.owl dos 2013-10-15T14:00:34Z biological_process owl:Class GO:0014902 biolink:NamedThing myotube differentiation The process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotube differentiation starts with myoblast fusion and the appearance of specific cell markers (this is the cell development step). Then individual myotubes can fuse to form bigger myotubes and start to contract. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0000109 biolink:NamedThing gastrula stage A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. tmpxe7fu0cj_hp_relaxed.owl trilaminar blastoderm stage|trilaminar disk stage|blastocystis trilaminaris stage|trilaminar germ stage|trilaminar stage|trilaminar blastocyst stage WBls:0000010|HsapDv:0000010|OGES:000004|XAO:1000005|BILS:0000109|EFO:0001296|ZFS:0000047|FBdv:00005317|OGES:000019|BilaDO:0000008|MmusDv:0000013 uberon owl:Class BFO:0000003 biolink:NamedThing occurrent An entity that has temporal parts and that happens, unfolds or develops through time. tmpxe7fu0cj_hp_relaxed.owl owl:Class CL:1001568 biolink:NamedThing pulmonary artery endothelial cell tmpxe7fu0cj_hp_relaxed.owl PAEC cell BTO:0001141 cl owl:Class CL:1000413 biolink:NamedThing endothelial cell of artery A blood vessel endothelial cell that is part of an arterial endothelium. tmpxe7fu0cj_hp_relaxed.owl arterial endothelial cell KUPO:0001095|FMA:67761|BTO:0004758 CL:0002542 cell owl:Class HP:0025562 biolink:NamedThing Anterior chamber cells grade 0.5+ Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. tmpxe7fu0cj_hp_relaxed.owl 2017-12-14 13:17:41+00:00 HPO:probinson owl:Class HP:0025560 biolink:NamedThing Anterior chamber cells Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. tmpxe7fu0cj_hp_relaxed.owl 2017-12-14 13:00:02+00:00 HPO:probinson owl:Class HP:0000614 biolink:NamedThing Abnormal nasolacrimal system morphology An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the nasolacrimal system UMLS:C4025835 The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct. owl:Class HP:0030669 biolink:NamedThing Abnormal ocular adnexa morphology A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073120 owl:Class HP:0010377 biolink:NamedThing Symphalangism affecting the phalanges of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Fused bones of 4th toe UMLS:C4023872 doelkens 2009-07-16T11:51:46Z human_phenotype owl:Class HP:0100235 biolink:NamedThing Synostosis involving bones of the toes tmpxe7fu0cj_hp_relaxed.owl Fusion involving bones of the toes UMLS:C4022186 doelkens 2010-06-24T05:26:38Z human_phenotype owl:Class GO:0045602 biolink:NamedThing negative regulation of endothelial cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of endothelial cell differentiation. tmpxe7fu0cj_hp_relaxed.owl inhibition of endothelial cell differentiation|down regulation of endothelial cell differentiation|down-regulation of endothelial cell differentiation|downregulation of endothelial cell differentiation biological_process owl:Class GO:0021522 biolink:NamedThing spinal cord motor neuron differentiation The process in which neuroepithelial cells in the ventral neural tube acquire specialized structural and/or functional features of motor neurons. Motor neurons innervate an effector (muscle or glandular) tissue and are responsible for transmission of motor impulses from the brain to the periphery. Differentiation includes the processes involved in commitment of a cell to a specific fate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0021515 biolink:NamedThing cell differentiation in spinal cord The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells of the spinal cord. Differentiation includes the processes involved in commitment of a cell to a specific fate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0002349 biolink:NamedThing Focal aware seizure A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. tmpxe7fu0cj_hp_relaxed.owl Partial seizure with retained awareness|Focal seizure with retained awareness|Simple partial seizure|Simple partial seizures|Focal seizure without impairment of consciousness or awareness|Focal aware seizures|Focal seizure without impairment of awareness|Partial seizure without impairment of awareness|Focal seizures without impairment of consciousness or awareness SNOMEDCT_US:117891000119100|MSH:D004828|SNOMEDCT_US:79348005|UMLS:C0234974 In the previous (1981) ILAE classification of seizure types, the term 'simple partial seizure' was used to denote a focal aware seizure. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is preserved throughout, then the seizure is a focal aware seizure. Previously the terms simple partial was used to describe focal aware seizures. owl:Class HP:0025599 biolink:NamedThing Inferior oblique muscle overaction A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 21:25:58+00:00 HPO:probinson owl:Class HP:0025596 biolink:NamedThing Abnormal inferior oblique muscle physiology A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 20:54:37+00:00 The major functions of the inferior oblique muscle are extorsion (external rotation), elevation, and abduction. HPO:probinson owl:Class HP:0100203 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the outermost bone of the little toe|Bracket shaped end part of the outermost bone of the pinkie toe|Bracket shaped end part of the outermost bone of the pinky toe UMLS:C4022218 doelkens 2010-06-24T05:03:31Z human_phenotype owl:Class HP:0001351 biolink:NamedThing Jerk-locked premyoclonus spikes Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3552825 human_phenotype owl:Class HP:0030178 biolink:NamedThing Abnormality of central nervous system electrophysiology tmpxe7fu0cj_hp_relaxed.owl Abnormality of CNS electrophysiology UMLS:C4022597 owl:Class HP:0031707 biolink:NamedThing Compensatory face turn to the right A tendency to turn the face to the right to compensate for a limitation of eye movement. tmpxe7fu0cj_hp_relaxed.owl 2017-12-18 00:27:59+00:00 With a sixth cranial nerve palsy there is a weakened lateral rectus muscule and the affected patient will often turn the head towards the affected eye. peter owl:Class HP:0031705 biolink:NamedThing Compensatory head posture A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem. tmpxe7fu0cj_hp_relaxed.owl 2017-12-18 00:24:15+00:00 An abnormal position of the head can be due to an ocular or a non-ocular problem. We reserve this term for abnormal head positions that are compensatory for an ocular problem. peter owl:Class UBERON:0018553 biolink:NamedThing primary central incisor tooth tmpxe7fu0cj_hp_relaxed.owl primary central incisor uberon owl:Class UBERON:0018551 biolink:NamedThing central incisor tooth tmpxe7fu0cj_hp_relaxed.owl central incisor uberon owl:Class CHEBI:24621 biolink:NamedThing hormone Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds. tmpxe7fu0cj_hp_relaxed.owl endocrine|hormones chebi_ontology owl:Class CHEBI:17553 biolink:NamedThing O-phosphoethanolamine The ethanolamine mono-ester of phosphoric acid, and a metabolite of phospholipid metabolism. This phosphomonoester shows strong structural similarity to the inhibitory neurotransmitter GABA, and is decreased in post-mortem Alzheimer's disease brain. tmpxe7fu0cj_hp_relaxed.owl colaminphosphoric acid|ethanolamine O-phosphate|PETN|colamine phosphoric acid|2-amino-ethanol phosphate|2-amino-ethanol dihydrogen phosphate|phosphoric acid 2-aminoethyl phenyl ester|O-Phosphoethanolamine|OPE|EAP|Ethanolamine phosphate|2-aminoethyl dihydrogen phosphate|pEtN|PEA|Phosphoethanolamine|PE|colamine phosphate|O-Phosphorylethanolamine|monoaminoethyl phosphate|phosphoryl-ethanolamine|mono(2-aminoethyl) phosphate|ethanolamine acid phosphate|O-phosphocolamine 0 C2H8NO4P InChI=1S/C2H8NO4P/c3-1-2-7-8(4,5)6/h1-3H2,(H2,4,5,6) SUHOOTKUPISOBE-UHFFFAOYSA-N 141.06302 141.01909 NCCOP(O)(O)=O Beilstein:1758916|KEGG:C00346|Gmelin:663022|PMID:7791524|MetaCyc:PHOSPHORYL-ETHANOLAMINE|DrugBank:DB01738|CAS:1071-23-4|PDBeChem:OPE|PMID:1112054|Reaxys:1758916 CHEBI:23980|CHEBI:14224|CHEBI:44681|CHEBI:4881|CHEBI:12694|CHEBI:14814 chebi_ontology owl:Class CHEBI:50994 biolink:NamedThing primary amino compound A compound formally derived from ammonia by replacing one hydrogen atom by an organyl group. tmpxe7fu0cj_hp_relaxed.owl primary amino compounds chebi_ontology owl:Class HP:0030664 biolink:NamedThing Beevor's sign Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0231616|SNOMEDCT_US:61282003 Beevor's sign is said to be characteristic of a spinal cord lesion at the T10 level, but is also described inter alia in amyotrophic lateral sclerosis and in facioscapulohumeral muscular dystrophy. HPO:probinson owl:Class HP:0009023 biolink:NamedThing Abdominal wall muscle weakness Decreased strength of the abdominal musculature. tmpxe7fu0cj_hp_relaxed.owl Lax abdominal musculature UMLS:C4021527 This may be associated with protuberance of the abdomen. HP:0001546|HP:0004873 human_phenotype owl:Class HP:0010658 biolink:NamedThing Patchy changes of bone mineral density Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023754 doelkens 2010-02-25T10:42:39Z human_phenotype owl:Class HP:0004348 biolink:NamedThing Abnormality of bone mineral density This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. tmpxe7fu0cj_hp_relaxed.owl Abnormality of bone mineralisation and ossification UMLS:C4021657 peter 2008-03-11T08:10:00Z human_phenotype owl:Class GO:1901863 biolink:NamedThing positive regulation of muscle tissue development Any process that activates or increases the frequency, rate or extent of muscle tissue development. tmpxe7fu0cj_hp_relaxed.owl activation of muscle tissue development|up-regulation of muscle tissue development|up regulation of muscle tissue development|upregulation of muscle tissue development yaf 2013-02-01T10:30:57Z biological_process owl:Class GO:1901861 biolink:NamedThing regulation of muscle tissue development Any process that modulates the frequency, rate or extent of muscle tissue development. tmpxe7fu0cj_hp_relaxed.owl yaf 2013-02-01T10:30:47Z biological_process owl:Class HP:0002546 biolink:NamedThing Incomprehensible speech tmpxe7fu0cj_hp_relaxed.owl Incomprehensible speech UMLS:C1838027 owl:Class HP:0002167 biolink:NamedThing Neurological speech impairment tmpxe7fu0cj_hp_relaxed.owl Speech impediment|Speech disorder|Speech impairment UMLS:C0037822|MSH:D013064 human_phenotype owl:Class PATO:0001788 biolink:NamedThing increased mass density A density which is higher relative to the normal or average. tmpxe7fu0cj_hp_relaxed.owl high density quality owl:Class PATO:0002305 biolink:NamedThing increased object quality A quality of an object that has a value that is increased compared to normal or average. tmpxe7fu0cj_hp_relaxed.owl 2011-06-16T06:54:01Z quality owl:Class UBERON:0005647 biolink:NamedThing manual digit 4 epithelium An epithelium that is part of a manual digit 4. tmpxe7fu0cj_hp_relaxed.owl hand digit 4 epithelium|manual digit IV epithelium|fore limb digit 4 epithelium EMAPA:17439|EHDAA2:0000530 uberon owl:Class UBERON:0005227 biolink:NamedThing manual digit epithelium An epithelium that is part of a finger [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl finger epithelium|fore limb digit epithelium|hand digit epithelium EMAPA:32647|VHOG:0001032|EHDAA2:0000406 uberon owl:Class CL:0000766 biolink:NamedThing myeloid leukocyte A cell of the monocyte, granulocyte, or mast cell lineage. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class CL:0000738 biolink:NamedThing leukocyte An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. tmpxe7fu0cj_hp_relaxed.owl white blood cell|leucocyte|immune cell CALOHA:TS-0549|BTO:0000751|FMA:62852 cell owl:Class HP:0009260 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 4th finger A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the outermost bone of ring finger|Delta-shaped epiphysis of the distal phalanx of the 4th finger UMLS:C4021507 doelkens 2009-01-07T12:07:34Z human_phenotype owl:Class HP:0009403 biolink:NamedThing Triangular epiphyses of the 4th finger A triangular appearance of the epiphyses of the 4th finger of the hand. tmpxe7fu0cj_hp_relaxed.owl Delta-shaped epiphyses of the 4th finger|Triangular end part of ring finger bone UMLS:C4021482 doelkens 2009-01-13T01:59:12Z human_phenotype owl:Class HP:0030504 biolink:NamedThing Grouped congenital hypertrophy of retinal pigment epithelium tmpxe7fu0cj_hp_relaxed.owl Bear track congenital hypertrophy of retinal pigment epithelium UMLS:C4072989 owl:Class HP:0007649 biolink:NamedThing Congenital hypertrophy of retinal pigment epithelium Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:232074003|UMLS:C0339555 This feature is found in around 3-5% of the population and is of no functional significance. human_phenotype owl:Class UBERON:0011977 biolink:NamedThing epiphysis of proximal phalanx of manus An epiphysis that is part of a proximal phalanx of manus. tmpxe7fu0cj_hp_relaxed.owl epiphysis of proximal phalanx of finger uberon owl:Class UBERON:0001437 biolink:NamedThing epiphysis The head of a long bone that articulates with a neighboring skeletal element and is separated from the shaft by the epiphyseal plate until bone growth stops. At that time, the plate disappears and the head and shaft are united[MESH,modified]. tmpxe7fu0cj_hp_relaxed.owl end of long bone|bone epiphysis|long bone epiphysis|epiphyses UMLS:C1708734|AAO:0000742|FMA:24012|NCIT:C52722|NCIT:C32529|EMAPA:35508|MESH:D004838|BTO:0000413|MA:0001362 http://upload.wikimedia.org/wikipedia/commons/9/94/Illu_long_bone.jpg uberon owl:Class Subdivision of long bone which forms its expanded proximal or distal articular end; together with other the subdivisions of long bone, it constitutes the long bone. Examples: proximal epiphysis of humerus, distal epiphysis of femur.|Cartilaginous expansion at the distal end of an anterior rib or transverse process that serves for the attachment of muscles suspending the pectoral girdle to the vertebral column.[AAO] epiphysial|epiphyseal GO:1902531 biolink:NamedThing regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of intracellular signal transduction. tmpxe7fu0cj_hp_relaxed.owl regulation of intracellular protein kinase cascade|regulation of intracellular signaling cascade|regulation of signal transduction via intracellular signaling cascade|regulation of signal transmission via intracellular cascade|regulation of intracellular signaling pathway|regulation of intracellular signal transduction pathway|regulation of intracellular signaling chain bf 2013-12-02T11:32:52Z GO:0010627 biological_process owl:Class UBERON:0004402 biolink:NamedThing bone tissue of proximal epiphysis A portion of bone tissue that is part of a proximal epiphysis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:241372 uberon owl:Class UBERON:0002481 biolink:NamedThing bone tissue Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts. tmpxe7fu0cj_hp_relaxed.owl osteogenic tissue|mineralized bone tissue|osseous tissue|bone|portion of bone tissue|calcium tissue CALOHA:TS-2011|ZFA:0005621|FMA:224804|VSAO:0000047|MA:0002780|XAO:0004040|EMAPA:35179|NCIT:C13076|galen:BoneTissue|UMLS:C0391978|MESH:D001842|Wikipedia:Bone_tissue see https://github.com/obophenotype/uberon/issues/27 uberon owl:Class Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts.[VSAO] UBERON:0006844 biolink:NamedThing cusp of tooth A raised area of the biting surface of a tooth. tmpxe7fu0cj_hp_relaxed.owl tooth cone|cusp|tooth cusp UMLS:C0226994|TAO:0001973|FMA:56481|ZFA:0005434|NCIT:C94568 this class may be obsoleted and split - the TAO class is generic, the mammalian class refers specifically to a molariform tooth uberon owl:Class the elevated, somewhat pointed portions of the chewing surfaces on premolar and molar teeth|Anatomical structure that is a natural outgrowth, prominence, or point that is part of the surface of a tooth.[TAO] GO:0014734 biolink:NamedThing skeletal muscle hypertrophy The enlargement or overgrowth of all or part of an organ due to an increase in size (not length) of individual muscle fibers without cell division. In the case of skeletal muscle cells this happens due to the additional synthesis of sarcomeric proteins and assembly of myofibrils. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0014897 biolink:NamedThing striated muscle hypertrophy The enlargement or overgrowth of all or part of an organ due to an increase in size of muscle cells without cell division. In the case of striated muscle, this happens due to the additional synthesis of sarcomeric proteins and assembly of myofibrils. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0004417 biolink:NamedThing Intermittent claudication Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0021775|SNOMEDCT_US:63491006|MSH:D007383 Vascular intermittent claudication caused by peripheral arterial disease most often related to severe atherosclerosis. peter 2008-03-18T09:29:00Z human_phenotype owl:Class HP:0025323 biolink:NamedThing Abnormal arterial physiology An anomaly of arterial function. tmpxe7fu0cj_hp_relaxed.owl 2017-02-03 12:08:38+00:00 HPO:probinson owl:Class PATO:0001551 biolink:NamedThing increased sensitivity of a process A sensitivity of a process which is higher than normal or average. tmpxe7fu0cj_hp_relaxed.owl high sensitivity of occurrent|increased sensitivity of occurrent quality owl:Class PATO:0002304 biolink:NamedThing increased process quality A quality of a process that has a value that is increased compared to normal or average. tmpxe7fu0cj_hp_relaxed.owl 2011-06-16T06:53:08Z quality owl:Class GO:0061184 biolink:NamedThing positive regulation of dermatome development Any process that increases the rate, frequency, or extent of the progression of the dermatome over time, from its initial formation to the mature structure. The dermatome is the portion of a somite that will form skin. tmpxe7fu0cj_hp_relaxed.owl dph 2010-07-14T08:42:03Z biological_process owl:Class CL:1000298 biolink:NamedThing mesothelial cell of dura mater A mesothelial cell that is part of the dura mater. tmpxe7fu0cj_hp_relaxed.owl squamous mesothelial cell of dura mater FMA:256516 cell owl:Class HP:0033381 biolink:NamedThing Elevated circulating stearoylcarnitine concentration Abnormally increased concentration of O-stearoylcarnitine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-12-23 14:47:06+00:00 Stearoylcarnitine (CHEBI:73074) is known by several names including O-stearoylcarnitine and stearoylcarnitine (C18). peter owl:Class HP:0012071 biolink:NamedThing Abnormal circulating acetylcarnitine concentration Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating esterified carnitine concentration|Abnormal acetylcarnitine profile UMLS:C4023058|UMLS:C4020733 Carnitine fundergoes reversible esterification of its 3-hydroxyl group producing acylcarnitine, which can enter the mitochondria with the assistance of specific translocases. hecht 2012-08-11T09:03:41Z owl:Class HP:0010206 biolink:NamedThing Curved proximal toe phalanx A deviation from the normal straight shape of a proximal phalanx of one or more toes. tmpxe7fu0cj_hp_relaxed.owl Curved innermost toe bones|Curved proximal phalanges of the toes UMLS:C4021315 doelkens 2009-05-29T01:54:18Z owl:Class HP:0010176 biolink:NamedThing Curved toe phalanx A deviation from the normal straight form of one or more toe phalanges. tmpxe7fu0cj_hp_relaxed.owl Curved toe bone|Curved phalanges of the toes UMLS:C4021330 doelkens 2009-05-29T01:39:26Z human_phenotype owl:Class CHEBI:16831 biolink:NamedThing 3-hydroxy-3-methylglutaric acid A dicarboxylic acid that is glutaric acid in which one of the two hydrogens at position 3 is substituted by a hydroxy group, while the other is substituted by a methyl group. It has been found to accumulate in urine of patients suffering from HMG-CoA lyase (3-hydroxy-3-methylglutaryl-CoA lyase, EC 4.1.3.4) deficiency. It occurs as a plant metabolite in Crotalaria dura. tmpxe7fu0cj_hp_relaxed.owl 3-Hydroxy-3-methylpentanedioic acid|beta-Hydroxy-beta-methylglutaric acid|Dicrotalic acid|(S)-3-Hydroxy-3-methylglutaric acid|(S)-Meglutol|meglutolum|3-HYDROXY-3-METHYL-GLUTARIC ACID|meglutol|beta-hydroxy-beta-methylglutaric acid|3-hydroxy-3-methylpentanedioic acid 0 C6H10O5 InChI=1S/C6H10O5/c1-6(11,2-4(7)8)3-5(9)10/h11H,2-3H2,1H3,(H,7,8)(H,9,10) NPOAOTPXWNWTSH-UHFFFAOYSA-N 162.14060 162.05282 CC(O)(CC(O)=O)CC(O)=O Reaxys:1769194|HMDB:HMDB0000355|PMID:6083597|PMID:9658458|PMID:4717513|KEGG:C03761|Beilstein:1769194|Drug_Central:1670|CAS:503-49-1|PMID:10916782|PMID:17941049|KEGG:D04897|PDBeChem:MAH|PMID:3063529|DrugBank:DB04377|MetaCyc:CPD-547|KNApSAcK:C00001187 CHEBI:43804|CHEBI:11044|CHEBI:20043|CHEBI:18746|CHEBI:391|CHEBI:1524 chebi_ontology owl:Class CHEBI:26878 biolink:NamedThing tertiary alcohol A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it. tmpxe7fu0cj_hp_relaxed.owl tertiary alcohols|tertiary alcohol 0 C4H7OR3 71.09780 71.04969 OC(C[*])(C[*])C[*] chebi_ontology owl:Class HP:0041191 biolink:NamedThing Fractured epiphysis of third metacarpal bone A partial or complete breakage of the epiphysis of third metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl bone epiphysis of third metacarpal bone owl:Class HP:0010222 biolink:NamedThing Abnormality of the epiphysis of the 3rd metacarpal Any abnormality of the epiphysis of the third metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the 3rd long bone of hand UMLS:C4023962 doelkens 2009-07-02T04:10:28Z human_phenotype owl:Class UBERON:0002329 biolink:NamedThing somite Somites are spheres of epithelial cells that form sequentially along the anterior-posterior axis of the embryo through mesenchymal to epithelial transition of the presomitic mesoderm. tmpxe7fu0cj_hp_relaxed.owl epithelial somite|epimere mesoderm|somitus|somites|somitic mesoderm|mesodermal cluster|epimere MESH:A16.254.425.660.750|EHDAA2:0003436|AAO:0010569|GAID:1306|FMA:85522|TAO:0000155|ZFA:0000155|VHOG:0000191|EHDAA:366|MIAA:0000068|BTO:0001558|EHDAA:699|XAO:0000058|AEO:0001015|UMLS:C0376449|Wikipedia:Somite|MAT:0000068|NCIT:C34302|EMAPA:31169 When the somite becomes segmented from the segmental plate, it is composed of an epithelial sac enclosing mesenchymal somitocoel cells. Thereafter the somite differentiates into two parts, the ventro-medial mesenchymal sclerotome and the dorso-lateral epithelial dermomyotome. This change in the epithelial somite depends on surrounding tissue [PMID:15906248] http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png currently classified as an epithelial vesicle, consistent with EHDAA2 and https://github.com/obophenotype/uberon/wiki/The-neural-crest. Consider making 'somitic mesoderm' a separate term and correlate with regionalization processes. Consider moving ZFA term to 'trunk somite' as it is part of the trunk uberon owl:Class Undifferentiated mesodermal components of early trunk or tail segments or metameres, derived from paraxial mesoderm; forms myotomes, sclerotomes and perhaps dermatomes. Kimmel et al, 1995.[TAO]|Post-cranial axial segments which form sclerotome and dermomyotome.[AAO] relationship loss: develops_from paraxial mesenchyme (TAO:0000942)[TAO]|relationship type change: part_of paraxial mesoderm (AAO:0010568) CHANGED TO: develops_from paraxial mesoderm (UBERON:0003077)[AAO]|relationship type change: OBO_REL:part_of trunk (TAO:0001115) CHANGED TO: develops_from trunk (UBERON:0002100)[TAO] (...) cephalocordates and craniates belong to a group known as Somitichordata. Somitichordate synapomorphies include (1) somites (...) (reference 1); The idea that the last common ancestor of bilaterian animals (Urbilateria) was segmented has been raised recently on evidence coming from comparative molecular embryology (reference 2).[well established][VHOG] somitic UBERON:0005423 biolink:NamedThing developing anatomical structure tmpxe7fu0cj_hp_relaxed.owl developmental tissue|developmental structure|developing structure MIAA:0000019|AEO:0000125|FBbt:00007006|EHDAA2:0003125|FMA:292313|CALOHA:TS-2122 uberon owl:Class HP:0007634 biolink:NamedThing Nonarteritic anterior ischemic optic neuropathy An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. tmpxe7fu0cj_hp_relaxed.owl Nonarteritic anterior ischaemic optic neuropathy UMLS:C1852242 Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased colour vision, a relative afferent pupillary defect, and optic disc swelling. human_phenotype owl:Class HP:0001138 biolink:NamedThing Optic neuropathy tmpxe7fu0cj_hp_relaxed.owl Damaged optic nerve SNOMEDCT_US:82108004|UMLS:C3887709 HP:0007806 human_phenotype owl:Class HP:0025406 biolink:NamedThing Asthenia A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. tmpxe7fu0cj_hp_relaxed.owl Prostration|Lack of energy and strength|Weakness 2017-04-22 14:48:03+00:00 Asthenia is to be distinguished from fatigue, because asthenia refers to a sensation of exhaustion which occurs before any effort. Asthenia is to be distinguished from myasthenia, which means a specific weakness of one or more muscles. Asthenia and fatigue can coexist. HPO:probinson owl:Class HP:0007542 biolink:NamedThing Absent pigmentation of the ventral chest Lack of skin pigmentation (coloring) of the anterior chest. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024848 human_phenotype owl:Class HP:0040007 biolink:NamedThing Absent pigmentation of chest Lack of skin pigmentation (coloring) of the chest. tmpxe7fu0cj_hp_relaxed.owl Lack of skin coloring on chest|Lack of skin colouring on chest UMLS:C4022498 HPO:skoehler human_phenotype owl:Class HP:0001618 biolink:NamedThing Dysphonia An impairment in the ability to produce voice sounds. tmpxe7fu0cj_hp_relaxed.owl Voice change|Inability to produce voice sounds SNOMEDCT_US:47004009|UMLS:C1527344|MSH:D055154 owl:Class UBERON:0005809 biolink:NamedThing cortex of manus bone The outer or sperficial part of a bone of the manus. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0003598 biolink:NamedThing manus connective tissue A portion of connective tissue that is part of a hand [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hand connective tissue|connective tissue of hand|connective tissue of terminal segment of free upper limb EMAPA:35392|MA:0000620 uberon owl:Class CHEBI:75772 biolink:NamedThing Saccharomyces cerevisiae metabolite Any fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae). tmpxe7fu0cj_hp_relaxed.owl baker's yeast metabolites|S. cerevisiae metabolite|baker's yeast secondary metabolite|S. cerevisiae secondary metabolites|S. cerevisiae metabolites|baker's yeast metabolite|Saccharomyces cerevisiae metabolites|S. cerevisiae secondary metabolite|baker's yeast secondary metabolites|Saccharomyces cerevisiae secondary metabolites CHEBI:76951|CHEBI:76949 chebi_ontology owl:Class HP:0041162 biolink:NamedThing Fractured foot bone A partial or complete breakage of the foot bone, such as the metatarsal or toe. tmpxe7fu0cj_hp_relaxed.owl bone pes|Metatarsal fracture|Broken foot|Fractured pes owl:Class HP:0041117 biolink:NamedThing Fractured lower limb segment A partial or complete breakage of the lower limb segment. tmpxe7fu0cj_hp_relaxed.owl bone lower limb segment owl:Class PATO:0002166 biolink:NamedThing premature closure A duration quality of a process inhering in a bearer by virtue of the bearer's premature completion of the closure of the opening of an anatomical entity. tmpxe7fu0cj_hp_relaxed.owl 2009-12-02T04:10:10Z quality owl:Class PATO:0000694 biolink:NamedThing premature A quality of a process which starts earlier than the natural start time or the reference process. tmpxe7fu0cj_hp_relaxed.owl early|precocious|advanced PATO:0000691|PATO:0002086 quality owl:Class UBERON:0001325 biolink:NamedThing muscle of pelvis Muscle (organ) which is a part of the pelvis. Examples: levator ani,. tmpxe7fu0cj_hp_relaxed.owl pelvis muscle|muscle organ of pelvis|pelvic muscle|pelvis muscle organ EMAPA:37481|EMAPA:18184|MA:0000534|FMA:19086 uberon owl:Class UBERON:0005179 biolink:NamedThing pelvic region element An organ or element that is part of the pelvic region. Examples: reproductive organs (in some organisms), urinary bladder, bones of the pelvis. tmpxe7fu0cj_hp_relaxed.owl pelvic element|pelvis organ|pelvis region organ MA:0000543|EMAPA:37275 uberon owl:Class CHEBI:18248 biolink:NamedThing iron atom An iron group element atom that has atomic number 26. tmpxe7fu0cj_hp_relaxed.owl Iron|26Fe|Eisen|Fe|ferrum|iron|fer|hierro 0 Fe InChI=1S/Fe XEEYBQQBJWHFJM-UHFFFAOYSA-N 55.84500 55.93494 [Fe] Reaxys:4122945|WebElements:Fe|CAS:7439-89-6|DrugBank:DB01592|HMDB:HMDB0015531|KEGG:C00023 CHEBI:24872|CHEBI:13322|CHEBI:5974 chebi_ontology owl:Class CHEBI:33356 biolink:NamedThing iron group element atom tmpxe7fu0cj_hp_relaxed.owl iron group elements|iron group element|group 8 elements chebi_ontology owl:Class UBERON:0003830 biolink:NamedThing thoracic segment muscle Any muscle organ that is part of a thorax [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl upper body muscle|thorax muscle organ|muscle organ of thorax MA:0000561 uberon owl:Class UBERON:0001774 biolink:NamedThing skeletal muscle of trunk A skeletal muscle organ that is part of the trunk region. tmpxe7fu0cj_hp_relaxed.owl trunk muscle organ|muscle organ of trunk|muscle organ of torso|body musculature|torso muscle organ|trunk musculature|trunk muscle|muscle of trunk FMA:58274|EMAPA:35888|TAO:0000473|MA:0000514|ZFA:0000473|XAO:0003230|AAO:0000611 Note that this class excludes smooth muscle elements in the trunk region, such as the internal anal sphincter. This appears to be consistent with other ontologies such as FMA and ZFA which appear to only include skeletal muscles here. In fact the MA class 'trunk muscle' is classified as a 'set of skeletal muscles'. uberon owl:Class Many ontologies do not appear to have a coherent distinction between an individual muscle and the musculature (i.e. the set of muscles in a region), so we group all together here. UBERON:0001114 biolink:NamedThing right lobe of liver The right lobe is much larger than the left; the proportion between them being as six to one. It occupies the right hypochondrium, and is separated from the left lobe on its upper surface by the falciform ligament; on its under and posterior surfaces by the left sagittal fossa; and in front by the umbilical notch. It is of a somewhat quadrilateral form, its under and posterior surfaces being marked by three fossæ: the porta and the fossæ for the gall-bladder and inferior vena cava, which separate its left part into two smaller lobes; the quadrate and caudate lobes. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl lobus hepaticus dexter|second lobe|gall bladder lobe|lobus hepatis dexter|2nd lobe|liver right lobe|right hepatic lobe|right liver lobe FMA:13362|UMLS:C0227481|EMAPA:18311|NCIT:C33481|EHDAA:4001|ZFA:0005173|TAO:0005173|VHOG:0001424|MA:0000363|EHDAA2:0001008 http://upload.wikimedia.org/wikipedia/commons/a/a3/Gray1087-liver.png uberon owl:Class Portion of the liver which develops on the fish's right side adjacent to the gall bladder.[TAO] UBERON:0001113 biolink:NamedThing lobe of liver Traditional gross anatomy divided the liver into four lobes based on surface features. The falciform ligament is visible on the front (anterior side) of the liver. This divides the liver into a left anatomical lobe, and a right anatomical lobe. tmpxe7fu0cj_hp_relaxed.owl liver lobe|lobus hepatis|hepatic lobe FMA:13361|NCIT:C49579|UMLS:C0447541|MA:0000360|EMAPA:18306 some work needs to be done to ensure the child terms of this class have correct isa/partof placement. in MA they are subclasses, in FMA they are parts uberon owl:Class UBERON:0003666 biolink:NamedThing upper jaw molar A molar tooth that is part of a upper jaw [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl upper permanent molar tooth|upper molar|upper secondary molar tooth|upper molar tooth|molar tooth of upper jaw|upper jaw molar tooth|maxillary secondary molar tooth EMAPA:17942|EHDAA2:0002125|MA:0001603|UMLS:C1710580|EHDAA:8053|NCIT:C49795|FMA:55720 uberon owl:Class UBERON:0011593 biolink:NamedThing maxillary tooth A tooth that is attached to a maxilla[TAO,modified]. tmpxe7fu0cj_hp_relaxed.owl maxillary teeth TAO:0001627|AAO:0000287|FMA:321646 this ontology also contains a class for 'tooth of upper jaw'. This is not equivalent to 'maxillary tooth' in a multi-species context, because many vertebrates have other tooth-bearing bones in the upper jaw[http://orcid.org/0000-0002-6601-2165] uberon owl:Class Tooth that is attached to the maxilla.[TAO] CHEBI:37164 biolink:NamedThing homopolysaccharide Glycans composed of a single type of monosaccharide residue. They are named by replacing the ending '-ose' of the sugar by '-an'. tmpxe7fu0cj_hp_relaxed.owl homopolysaccharides|homoglycan|homopolysaccharide chebi_ontology owl:Class CHEBI:18154 biolink:NamedThing polysaccharide A biomacromolecule consisting of large numbers of monosaccharide residues linked glycosidically. This term is commonly used only for those containing more than ten monosaccharide residues. tmpxe7fu0cj_hp_relaxed.owl Glycane|Glykan|Glykane|polisacaridos|Polysaccharide|polisacarido|Glycan|polysaccharides|glycans KEGG:C00420 CHEBI:8322|CHEBI:26205|CHEBI:14864 chebi_ontology owl:Class HP:0100424 biolink:NamedThing Partial duplication of the proximal phalanx of the 5th toe Partial duplication of the proximal phalanx of fifth toe. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the innermost bone of the pinkie toe|Partial duplication of the innermost bone of the little toe|Partial duplication of the proximal phalanx of the fifth toe|Partial duplication of the innermost bone of the pinky toe UMLS:C4020976 human_phenotype owl:Class HP:0100406 biolink:NamedThing Duplication of the proximal phalanx of the 5th toe Partial or complete duplication of the proximal phalanx of fifth toe. tmpxe7fu0cj_hp_relaxed.owl Duplication of the innermost bone of the little toe|Duplication of the proximal phalanx of the fifth toe|Duplication of the innermost bone of the pinkie toe|Duplication of the innermost bone of the pinky toe|Partial/complete duplication of the proximal phalanx of the 5th toe UMLS:C4020991 human_phenotype owl:Class GO:0070256 biolink:NamedThing negative regulation of mucus secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0051048 biolink:NamedThing negative regulation of secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. tmpxe7fu0cj_hp_relaxed.owl down-regulation of secretion|inhibition of secretion|down regulation of secretion|downregulation of secretion biological_process owl:Class HP:0010149 biolink:NamedThing Absent epiphysis of the 1st metatarsal Failure to form (agenesis) of the epiphysis of the 1st metatarsal. tmpxe7fu0cj_hp_relaxed.owl Absent end part of the 1st long bone of foot UMLS:C4024010 doelkens 2009-05-29T01:24:17Z human_phenotype owl:Class HP:0010125 biolink:NamedThing Abnormality of the epiphysis of the 1st metatarsal In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the 1st long bone of foot UMLS:C4024034 doelkens 2009-05-29T01:17:54Z human_phenotype owl:Class GO:0061154 biolink:NamedThing endothelial tube morphogenesis The process in which the anatomical structures of a tube are generated and organized from an endothelium. Endothelium refers to the layer of cells lining blood vessels, lymphatics, the heart, and serous cavities, and is derived from bone marrow or mesoderm. Corneal endothelium is a special case, derived from neural crest cells. tmpxe7fu0cj_hp_relaxed.owl dph 2010-06-15T09:05:00Z biological_process owl:Class GO:0003159 biolink:NamedThing morphogenesis of an endothelium The process in which the anatomical structure of an endothelium is generated and organized. Endothelium refers to the layer of cells lining blood vessels, lymphatics, the heart, and serous cavities, and is derived from bone marrow or mesoderm. Corneal endothelium is a special case, derived from neural crest cells. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-01T01:34:06Z biological_process owl:Class GO:0030449 biolink:NamedThing regulation of complement activation Any process that modulates the frequency, rate or extent of complement activation. tmpxe7fu0cj_hp_relaxed.owl regulation of complement cascade biological_process owl:Class HP:0031286 biolink:NamedThing Perifollicular erythema Redness surrounding the hair follicles. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 20:27:06+00:00 peter owl:Class HP:0031285 biolink:NamedThing Abnormal perifollicular morphology Any structural anomaly in the areas surrounding the hair follicles. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 20:25:47+00:00 peter owl:Class GO:0140640 biolink:NamedThing catalytic activity, acting on a nucleic acid Catalytic activity that acts to modify a nucleic acid. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/21402 pg 2021-05-11T06:31:07Z molecular_function owl:Class GO:0003824 biolink:NamedThing catalytic activity Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. tmpxe7fu0cj_hp_relaxed.owl enzyme activity Wikipedia:Enzyme molecular_function owl:Class GO:0035779 biolink:NamedThing angioblast cell differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of an angioblast cell. Angioblasts are one of the two products formed from hemangioblast cells (the other being pluripotent hemopoietic stem cells). tmpxe7fu0cj_hp_relaxed.owl angioblastic mesenchymal cell differentiation bf 2011-04-04T11:10:38Z biological_process owl:Class HP:0010390 biolink:NamedThing Triangular shaped phalanges of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Triangular shaped pinkie toe bone|Triangular shaped pinky toe bone|Triangular shaped little toe bone UMLS:C4023863 doelkens 2009-07-16T11:52:18Z human_phenotype owl:Class HP:0010342 biolink:NamedThing Abnormality of the phalanges of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the pinkie toe bones|Abnormality of the pinky toe bones|Abnormality of the little toe bones UMLS:C4023892 doelkens 2009-07-16T11:41:49Z owl:Class HP:0010159 biolink:NamedThing Triangular epiphysis of the 1st metatarsal tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the 1st long bone of foot UMLS:C4024000 doelkens 2009-05-29T01:24:17Z human_phenotype owl:Class HP:0030616 biolink:NamedThing Foveal retinal pigment epithelial loss on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073086 owl:Class HP:0030613 biolink:NamedThing Abnormal foveal morphology on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073083 owl:Class GO:0019693 biolink:NamedThing ribose phosphate metabolic process The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. tmpxe7fu0cj_hp_relaxed.owl ribose phosphate metabolism biological_process owl:Class GO:1901135 biolink:NamedThing carbohydrate derivative metabolic process The chemical reactions and pathways involving carbohydrate derivative. tmpxe7fu0cj_hp_relaxed.owl carbohydrate derivative metabolism bf 2012-07-12T04:05:09Z biological_process owl:Class UBERON:0010581 biolink:NamedThing pedal digit 2 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a pedal digit 2 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl foot digit 2 phalanx pre-cartilage condensation|pedal digit II phalanx pre-cartilage condensation|hind limb digit 2 phalanx pre-cartilage condensation EHDAA2:0002046|EMAPA:17728 uberon owl:Class UBERON:0015032 biolink:NamedThing pedal digit 2 phalanx endochondral element A pedal digit 2 phalanx bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl pedal digit 2 phalanx element|pedal digit 2 phalanx skeletal element|pedal digit II phalanx endochondral element uberon owl:Class HP:0002932 biolink:NamedThing Aldehyde oxidase deficiency A reduction in aldehyde oxidase level. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:124161002|UMLS:C1291266 Aldehyde oxidase generates carboxylic acids from aldehydes. human_phenotype owl:Class HP:0012379 biolink:NamedThing Abnormal enzyme/coenzyme activity An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022922 peter 2013-10-15T08:58:55Z owl:Class CL:0000121 biolink:NamedThing Purkinje cell The output neuron of the cerebellar cortex. tmpxe7fu0cj_hp_relaxed.owl cerebellar Purkinje cell|cerebellum Purkinje cell|Purkinje neuron|Purkinje's cell FMA:67969|BTO:0001011|CALOHA:TS-0845 cell owl:Class CL:0000527 biolink:NamedThing efferent neuron A neuron which sends impulses peripherally to activate muscles or secretory cells. tmpxe7fu0cj_hp_relaxed.owl output neuron cell owl:Class UBERON:0009715 biolink:NamedThing stomodeal lumen An anatomical cavity that surrounded_by a stomodeum. tmpxe7fu0cj_hp_relaxed.owl lumen of stomatodaeum|lumen of stomodeum|stomatodeal cavity uberon owl:Class BFO:0000141 biolink:NamedThing immaterial entity tmpxe7fu0cj_hp_relaxed.owl ImmaterialEntity immaterial BFO 2 Reference: Immaterial entities are divided into two subgroups:boundaries and sites, which bound, or are demarcated in relation, to material entities, and which can thus change location, shape and size and as their material hosts move or change shape or size (for example: your nasal passage; the hold of a ship; the boundary of Wales (which moves with the rotation of the Earth) [38, 7, 10 owl:Class HP:0003297 biolink:NamedThing Hyperlysinuria An increased concentration of lysine in the urine. tmpxe7fu0cj_hp_relaxed.owl Lysinuria|High urine lysine levels UMLS:C4021733 Normal urinary lysine total (free and combined form) excretion is around 80 mg per 24 hours. HP:0002158 human_phenotype owl:Class HP:0033096 biolink:NamedThing Increased aspartate family amino acid level in urine An elevated level of an aspartate family amino acid in the urine. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0001630 biolink:NamedThing muscle organ Organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work[GO]. tmpxe7fu0cj_hp_relaxed.owl muscle MA:0000015|FMA:5022|SCTID:71616004|galen:Muscle|EV:0100146|AAO:0011066|OpenCyc:Mx4rv2kf-5wpEbGdrcN5Y29ycA|EMAPA:32715|XAO:0000172|GAID:131|ZFA:0005145|VHOG:0001245|TAO:0005145|EMAPA:37474 uberon owl:Class Portion of tissue composed of contractile fibers.[TAO] It seems clear that the metazoan ancestor inherited from its unicellular descendants an actin cytoskeleton and motor-proteins of the myosin superfamily. Within metazoans, these two molecules were arranged into effective contractile units, the muscles. The basic trends for muscle evolution are already expressed in the diploblastic taxa.[well established][VHOG] muscular HP:0550003 biolink:NamedThing Proximal scleroderma Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk. tmpxe7fu0cj_hp_relaxed.owl 2017-08-02 22:02:40+00:00 owl:Class HP:0100324 biolink:NamedThing Scleroderma A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. tmpxe7fu0cj_hp_relaxed.owl Pseudoscleroderma|Progressive systemic scleroderma SNOMEDCT_US:403524003|MSH:D012594|UMLS:C0011644|SNOMEDCT_US:89155008|UMLS:C1274865 A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies. Sclerosis of the skin occurs in association with disorders as diverse as dermatomyositis, Werner's syndrome, porphyria, muscle glycogenesis, primary systemic amyloidosis, melorheostosis, and malignancy including the carcinoid syndrome. This term is intended to represent the phenotypic feature scleroderma rather than a particular disease. doelkens 2010-08-10T04:14:42Z HP:0001594|HP:0007426 human_phenotype owl:Class GO:1904707 biolink:NamedThing positive regulation of vascular associated smooth muscle cell proliferation Any process that activates or increases the frequency, rate or extent of vascular smooth muscle cell proliferation. tmpxe7fu0cj_hp_relaxed.owl up regulation of VSMC proliferation|positive regulation of VSMC proliferation|upregulation of VSMC proliferation|upregulation of vascular smooth muscle cell proliferation|up-regulation of vascular smooth muscle cell proliferation|up-regulation of VSMC proliferation|positive regulation of vascular smooth muscle cell proliferation|up regulation of vascular smooth muscle cell proliferation|activation of VSMC proliferation|activation of vascular smooth muscle cell proliferation sl 2015-10-01T16:05:32Z biological_process owl:Class GO:0048661 biolink:NamedThing positive regulation of smooth muscle cell proliferation Any process that activates or increases the rate or extent of smooth muscle cell proliferation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of SMC proliferation|up-regulation of smooth muscle cell proliferation|stimulation of smooth muscle cell proliferation|activation of smooth muscle cell proliferation|up regulation of smooth muscle cell proliferation|upregulation of smooth muscle cell proliferation biological_process owl:Class UBERON:0004454 biolink:NamedThing tarsal region Mesopodial segment of the pes, including the tarsal skeleton and associated tissues. tmpxe7fu0cj_hp_relaxed.owl hind basipodium|hind mesopodium|hock|ankle region|ankle|articulatio talocruralis|tarsal limb segment OpenCyc:Mx4rvVi-R5wpEbGdrcN5Y29ycA|EFO:0001409|GAID:41|MA:0000043|CALOHA:TS-2219|galen:Ankle|EMAPA:32783|FMA:9665|MESH:A13.473.821|MESH:A01.378.610.250.149 this term refers to the limb segment. See also: tarsal bones and tarsal skeleton Ankle:en.svg UBERON:0002388 uberon owl:Class MA has both tarsus (part of foot, has tarsal bone) and ankle (part of hindlimb, has joint, nerve, skin). UBERON:0006716 biolink:NamedThing mesopodium region The third segment of the limb, including either the wrist segment (carpus) or the ankle segment (tarsus). tmpxe7fu0cj_hp_relaxed.owl mesopod|mesopodial limb segment|mesopodial segment|carpus/tarsus uberon owl:Class Naming conventions for pod terms under discussion within phenoscape group HP:0006599 biolink:NamedThing Medial widening of clavicles tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866729 owl:Class HP:0000889 biolink:NamedThing Abnormal clavicle morphology Any abnormality of the clavicles (collar bones). tmpxe7fu0cj_hp_relaxed.owl Abnormality of the clavicle|Abnormal collarbone|Abnormal clavicles UMLS:C4021792 owl:Class HP:0009118 biolink:NamedThing Aplasia/Hypoplasia of the mandible Absence or underdevelopment of the mandible. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280261|MSH:D063173|UMLS:C4024589|UMLS:C4280401|UMLS:C3494426|UMLS:C4021371 2008-04-05T10:57:00Z human_phenotype owl:Class HP:0000277 biolink:NamedThing Abnormal mandible morphology Any abnormality of the mandible, the bone of the lower jaw. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the mandible|Deformity of the mandible|Deformity of the lower jaw bone|Anomaly of the mandible|Malformation of the lower jaw bone|Malformation of the mandible|Abnormality of the lower jaw bone UMLS:C4025870 HP:0000209 owl:Class PR:000001332 biolink:NamedThing carcinoembryonic antigen-related cell adhesion molecule 8 A protein that is a translation product of the human CEACAM8 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl CEACAM8|CD67 antigen|non-specific cross-reacting antigen NCA-95|CGM6|CD66b|carcinoembryonic antigen CGM6 Category=gene. Requested by=CL. protein owl:Class HP:0010560 biolink:NamedThing Undulate clavicles An abnormally wavy surface or edge of the clavicles. tmpxe7fu0cj_hp_relaxed.owl Wavy clavicles|Wavy collarbone UMLS:C4021253 peter 2009-10-14T09:52:46Z owl:Class UBERON:0034769 biolink:NamedThing lymphomyeloid tissue tmpxe7fu0cj_hp_relaxed.owl FMA:79770|NCIT:C41168 uberon owl:Class UBERON:0015757 biolink:NamedThing heterogeneous tissue tmpxe7fu0cj_hp_relaxed.owl portion of heterogeneous tissue FMA:62798 uberon owl:Class UBERON:0007390 biolink:NamedThing pectoral appendage cartilage tissue A cartilage tissue that is part of a pectoral appendage. tmpxe7fu0cj_hp_relaxed.owl pectoral fin cartilage TAO:0000257|ZFA:0000257 uberon owl:Class Cartilage which is part of the pectoral fin.[TAO] UBERON:0007389 biolink:NamedThing paired limb/fin cartilage A cartilage tissue that is part of a paired limb or fin. tmpxe7fu0cj_hp_relaxed.owl ZFA:0001543|TAO:0001543 uberon owl:Class Cartilage which is part of one of the paired fins.[TAO] GO:0001910 biolink:NamedThing regulation of leukocyte mediated cytotoxicity Any process that modulates the frequency, rate, or extent of leukocyte mediated cytotoxicity. tmpxe7fu0cj_hp_relaxed.owl regulation of immune cell mediated cell killing|regulation of immune cell mediated cell death|regulation of leucocyte mediated cytotoxicity|regulation of immune cell mediated cytotoxicity biological_process owl:Class HP:0010590 biolink:NamedThing Abnormality of the distal femoral epiphysis Any abnormality of the distal epiphysis of the femur. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the outermost thighbone UMLS:C4023783 sandra1 2009-10-22T03:00:23Z human_phenotype owl:Class HP:0006499 biolink:NamedThing Abnormality of femoral epiphysis An anomaly of a growth plate of a femur. tmpxe7fu0cj_hp_relaxed.owl Abnormality of thighbone end part UMLS:C4025034 peter 2008-03-28T06:28:00Z HP:0008811|HP:0006412 owl:Class UBERON:0013695 biolink:NamedThing colon endothelium Vascular endothelium found in colon blood vessels. tmpxe7fu0cj_hp_relaxed.owl colonic endothelial cell|colon endothelial cell|colonic endothelium|colorectal endothelium|colorectal endothelial cell|colon endothelial cells CALOHA:TS-0162 uberon owl:Class UBERON:0001986 biolink:NamedThing endothelium A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]. tmpxe7fu0cj_hp_relaxed.owl BTO:0000393|UMLS:C0014257|GAID:520|galen:Endothelium|FMA:63916|EFO:0002548|CALOHA:TS-0278|NCIT:C12481|MESH:D004727|SCTID:27168002 The term 'endothelium' has been either restricted to the continuous cell layer of the vertebrates, as we are assuming here, or applied to all the cells able to adhere to the luminal surface of the vascular basement membrane (Casley-Smith 1980) uberon owl:Class endothelial GO:0040018 biolink:NamedThing positive regulation of multicellular organism growth Any process that activates or increases the frequency, rate or extent of growth of an organism to reach its usual body size. tmpxe7fu0cj_hp_relaxed.owl positive regulation of body size|positive regulation of body growth biological_process owl:Class UBERON:0006920 biolink:NamedThing esophagus squamous epithelium A squamous epithelium that is part of a esophagus. tmpxe7fu0cj_hp_relaxed.owl squamous oesophageal epithelium|squamous epithelium of esophagus|esophageal squamous epithelium MA:0001567|CALOHA:TS-1250|EMAPA:35324|NCIT:C49222|BTO:0003635|UMLS:C1707950 uberon owl:Class MA introduces basal and squamous subtypes of esophagus epithelium; consider adding the FMA class 'epithelium of esophagus' here, because it is classified as squamous. BTO also has a singleton subclass UBERON:0006914 biolink:NamedThing squamous epithelium An epithelium characterised by its most superficial layer consisting of squamous epithelial cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0221909|SCTID:40118003|Wikipedia:Squamous_epithelium|BTO:0002072|NCIT:C12848 uberon owl:Class FBbt:00007028 (squamous epithelium) A type of epithelium that is made up of flattened cells which are arranged with their long axes in the plane of the epithelium UBERON:0004000 biolink:NamedThing tarsal gland acinus A sac-like structure comprising a sebaceous gland. tmpxe7fu0cj_hp_relaxed.owl acinus of tarsal gland|Meibomian gland acinus|palpebral gland acinus EMAPA:37972 uberon owl:Class UBERON:0005366 biolink:NamedThing olfactory lobe The lobe at the anterior part of each cerebral hemisphere, responsible for olfactory functions. tmpxe7fu0cj_hp_relaxed.owl MIAA:0000116|EHDAA:5480|BTO:0001362|MA:0002413|EHDAA2_RETIRED:0001294|EMAPA:17778|VHOG:0000833|NCIT:C33204|EFO:0000108|UMLS:C0178780 uberon owl:Class Part of the telencephalon, comprised of paired anterior outgrowths of either of the cerebral hemispheres in which the olfactory nerve exits. In Xenopus,the olfactory bulbs begin to fuse at NF stage 50, fusion is complete around NF stage 58. The cerebral vein loops around the olfactory bulb by NF stage 43[XAO:0004180]. (In mammals) Odorant detection is mediated by millions of olfactory sensory neurons located in the olfactory epithelium lining the nasal cavity. These neurons transmit sensory signals to the olfactory bulb of the brain, which in turn sends signals to the olfactory cortex.[well established][VHOG] UBERON:0016526 biolink:NamedThing lobe of cerebral hemisphere Subdivision of telencephalon which is one of a number of subdivisions of each hemisphere separated by both real landmarks (sulci and fissures) and arbitrary boundaries[FMA,modified]. tmpxe7fu0cj_hp_relaxed.owl cerebral lobe|lobe of cerebral cortex|regional organ part of cerebral cortex|lobi cerebri|lobe parts of cerebral cortex|cerebral cortical segment|lobes of the brain|segment of cerebral cortex|cerebral hemisphere lobe BIRNLEX:922|FMA:61823|BTO:0000445 We use the term lobe broadly as a rough regional area, encompassing homologous regions in smooth-brained mammals. We subdivide the lobes into white matter and neocortical parts. UBERON:0000322 uberon owl:Class CHEBI:75604 biolink:NamedThing EC 6.4.* (C-C bond-forming ligase) inhibitor A ligase inhibitor that interferes with the action of a C-C bond-forming ligase (EC 6.4.*.*). tmpxe7fu0cj_hp_relaxed.owl EC 6.4.*.* inhibitor|EC 6.4.* inhibitor|C--C bond-forming ligase inhibitors|EC 6.4.* inhibitors|C-C bond-forming ligase (EC 6.4.*) inhibitorS|EC 6.4.*.* inhibitors|C-C bond-forming ligase (EC 6.4.*) inhibitor|C-C bond-forming ligase inhibitor|EC 6.4.* (C-C bond-forming ligase) inhibitorS|C-C bond-forming ligase inhibitors|C--C bond-forming ligase inhibitor chebi_ontology owl:Class CHEBI:75603 biolink:NamedThing EC 6.* (ligase) inhibitor Any enzyme inhibitor that interferes with the action of a ligase (EC 6.*.*.*). Ligases are enzymes that catalyse the joining of two molecules with concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpxe7fu0cj_hp_relaxed.owl EC 6.*.*.* inhibitor|EC 6.* (ligase) inhibitors|ligase inhibitors|ligase inhibitor|EC 6.* inhibitor|EC 6.*.*.* inhibitors|EC 6.* inhibitors Wikipedia:Ligase chebi_ontology owl:Class HP:0000016 biolink:NamedThing Urinary retention Inability to completely empty the urinary bladder during the process of urination. tmpxe7fu0cj_hp_relaxed.owl Increased post-void residual urine volume SNOMEDCT_US:267064002|SNOMEDCT_US:130951007|MSH:D016055|SNOMEDCT_US:449491000124101|UMLS:C0080274 Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic. human_phenotype owl:Class HP:0000009 biolink:NamedThing Functional abnormality of the bladder Dysfunction of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl Poor bladder function UMLS:C3806583 HP:0004424|HP:0008731 human_phenotype owl:Class UBERON:0009778 biolink:NamedThing pleural sac A serous sac that has the pleura and the pleural cavity as parts. tmpxe7fu0cj_hp_relaxed.owl FMA:9690|SCTID:361996004|EHDAA2:0004737 uberon owl:Class despite its name the class EHDAA2:0004737 is not a true cavity, it corresponds to what we call the sac UBERON:0004119 biolink:NamedThing endoderm-derived structure An anatomical structure that develops (entirely or partially) from the endoderm. tmpxe7fu0cj_hp_relaxed.owl Grouping term for query purposes uberon owl:Class HP:0100390 biolink:NamedThing Short distal phalanx of the 4th toe Developmental hypoplasia of the distal phalanx of fourth toe. tmpxe7fu0cj_hp_relaxed.owl Short distal phalanx of the fourth toe|Short outermost bone of the 4th toe|Hypoplastic/small distal phalanx of the 4th toe UMLS:C4021007 human_phenotype owl:Class HP:0100367 biolink:NamedThing Short phalanx of the 4th toe Developmental hypoplasia of one or more phalanx of fourth toe. tmpxe7fu0cj_hp_relaxed.owl Short 4th toe bone|Hypoplastic/small phalanges of the 4th toe|Short phalanx of the fourth toe UMLS:C4021013 human_phenotype owl:Class HP:0008497 biolink:NamedThing Congenital craniofacial dysostosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024667 human_phenotype owl:Class HP:0004439 biolink:NamedThing Craniofacial dysostosis A characteristic appearance resulting from defective ossification of craniofacial bones. tmpxe7fu0cj_hp_relaxed.owl Crouzon syndrome UMLS:C0010273|MSH:D003394|SNOMEDCT_US:28861008 Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future. peter 2008-03-18T09:58:00Z human_phenotype owl:Class UBERON:0003365 biolink:NamedThing epithelium of left lung An epithelium that is part of a left lung [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl left lung epithelium|epithelial tissue of left lung|left lung epithelial tissue MA:0003131|EMAPA:17655 uberon owl:Class UBERON:0000115 biolink:NamedThing lung epithelium The epithelial layer of the lung. tmpxe7fu0cj_hp_relaxed.owl epithelium of lung|pulmonary epithelium|lung epithelial tissue|epithelial tissue of lung EMAPA:32860|BTO:0001653|MA:0001783 uberon owl:Class A pseudostratified epithelium, containing basal cells, stem cells of the airway, submucosal glands and cartilage rings, is limited to the trachea and large lobar airways in the mouse (Morrisey and Hogan, 2010). This more complex epithelium extends to terminal bronchioles in the human[DOI:10.1242/dev.115469] HP:0032136 biolink:NamedThing Decreased circulating IgG1 level A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased IgG1 level in blood 2018-11-22 14:29:21+00:00 peter owl:Class HP:0032135 biolink:NamedThing Decreased circulating IgG subclass level A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased IgG subclass level in blood 2018-11-22 14:26:10+00:00 IgG subclass deficiency is defined as a reduction in 1 or more subclasses of IgG (IgG1 and IgG2 in particular) by more than 2 SDs below the mean for age-matched controls. Deficiencies in IgG1 or IgG2 are more likely to cause low serum IgG levels because these are the major components. IgG1 levels stabilize by the age of 5 years; however, adult levels of IgG2, IgG3, and IgG4 may not be achieved until adolescence. Thus, the interpretation of subclass levels is additionally problematic because levels of each subclass increase at different rates during development. peter owl:Class UBERON:0006812 biolink:NamedThing mental foramen The mental foramen is one of two holes ('foramina') located on the anterior surface of the mandible. It permits passage of the mental nerve and vessels. The mental foramen descends slightly in edentulous individuals. tmpxe7fu0cj_hp_relaxed.owl foramen mentalis|mental foramina|foramen mentale FMA:53171|AAO:0000298 http://upload.wikimedia.org/wikipedia/commons/6/64/Gray176.png uberon owl:Class UBERON:0013685 biolink:NamedThing foramen of skull Anatomical space that is an opening in a bone of the skull. tmpxe7fu0cj_hp_relaxed.owl cranial foramen|foramen of skull|cranial conduit|foramina of the skull Wikipedia:Foramina_of_the_skull|SCTID:276742007|FMA:53165 uberon owl:Class HP:0011575 biolink:NamedThing Imperforate tricuspid valve A tricuspid valve that has failed to open. tmpxe7fu0cj_hp_relaxed.owl Unopened tricuspid valve UMLS:C4023292 Imperforate valve is distinct from atretic valve. The hallmark of an imperforate valve is that it provides potential communication between an atrium and a ventricle. It exists as fused valve leaflets usually possessing their own hypoplastic tensor apparatus. The presence of an imperforate valve may have important surgical implications. Imperforate valve is in contrast to atretic valve with an absent atrioventricular connection. The cornerstone of the diagnosis of an imperformate valve is the identification of a thin mobile membrane between an atrium and a ventrile and the recognition of the tensor apparatus of the valve. In most cases the tensor apparatusis hypoplastic and it maynot be possible to delineate it by echocardiography. peter 2012-04-08T10:37:55Z human_phenotype owl:Class HP:0011574 biolink:NamedThing Imperforate atrioventricular valve An atrioventricular valve that has failed to open (atretic). tmpxe7fu0cj_hp_relaxed.owl Unopened atrioventricular valve UMLS:C4023293 peter 2012-04-08T10:35:25Z human_phenotype owl:Class HP:0005897 biolink:NamedThing Severe generalized osteoporosis Severe degree of osteoporosis. tmpxe7fu0cj_hp_relaxed.owl Severe generalised osteoporosis|Severe, generalised osteoporosis|Severe, generalized osteoporosis UMLS:C1859443 HP:0005838 human_phenotype owl:Class HP:0040160 biolink:NamedThing Generalized osteoporosis tmpxe7fu0cj_hp_relaxed.owl Generalised osteoporosis|Generalized osteoporosis with pathologic fractures|Generalised osteoporosis with pathologic fractures UMLS:C0029456|MSH:D010024|UMLS:C3805887|SNOMEDCT_US:64859006 HP:0005744 owl:Class HP:0001315 biolink:NamedThing Reduced tendon reflexes Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. tmpxe7fu0cj_hp_relaxed.owl Impaired tendon reflexes|Absent or decreased deep tendon reflexes|Reduced/absent deep tendon reflexes|Decreased tendon reflexes|Decreased deep tendon reflexes|Hypoactive to absent deep tendon reflexes|Diminished or absent tendon reflexes|Decreased/absent deep tendon reflexes|Diminished deep tendon reflexes|Diminished or absent deep tendon reflexes|Weak or absent deep tendon reflexes|Depressed tendon reflexes|Decreased to absent deep tendon reflexes UMLS:C1866934 The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect. HP:0001316 human_phenotype owl:Class GO:2000738 biolink:NamedThing positive regulation of stem cell differentiation Any process that activates or increases the frequency, rate or extent of stem cell differentiation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-06-14T02:05:23Z biological_process owl:Class HP:0011181 biolink:NamedThing Low voltage EEG EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz). tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851759 A low voltage EEG is a rare finding but not generally pathologic. hecht 2011-11-19T10:27:20Z human_phenotype owl:Class HP:0011176 biolink:NamedThing EEG with constitutional variants An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023496 hecht 2011-11-19T10:18:43Z human_phenotype owl:Class HP:0009355 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of innermost long bone of the middle finger UMLS:C4024414 doelkens 2009-01-12T11:19:03Z human_phenotype owl:Class HP:0009419 biolink:NamedThing Stippling of the epiphyses of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of middle finger bone UMLS:C4024375 doelkens 2009-01-14T02:01:59Z human_phenotype owl:Class UBERON:0006756 biolink:NamedThing median lingual swelling During the third week of embryological development there appears, immediately behind the ventral ends of the two halves of the mandibular arch, a rounded swelling named the tuberculum impar, which was described by His as undergoing enlargement to form the buccal part of the tongue. More recent researches, however, show that this part of the tongue is mainly, if not entirely, developed from a pair of lateral swellings which rise from the inner surface of the mandibular arch and meet in the middle line. The site of their meeting remains post-embryonically as the median sulcus of the tongue. The tuberculum impar is said to form the central part of the tongue immediately in front of the foramen cecum, but Hammar insists that it is purely a transitory structure and forms no part of the adult tongue[WP, Gray's]. tmpxe7fu0cj_hp_relaxed.owl tuberculum linguale mediale|median lingual swelling|tuberculum impar|median tongue bud VHOG:0000730|FMA:312476|EHDAA2:0001081|EMAPA:17187|Wikipedia:Tuberculum_impar|SCTID:308821003 The thyroid initially develops caudal to the tuberculum impar . This embryonic swelling arises from the first pharyngeal arch and occurs midline on the floor of the developing pharynx, eventually helping form the tongue as the 2 lateral lingual swellings overgrow it. [http://emedicine.medscape.com/article/845125-overview] http://upload.wikimedia.org/wikipedia/commons/5/5c/Gray979.png uberon owl:Class Most adult amphibians have a tongue, as do all known reptiles, birds and mammals. Thus it is likely that the tongue appeared with the establishment of tetrapods and this structure seems to be related, to some extant, to the terrestrial lifestyle.[well established][VHOG] HP:0001939 biolink:NamedThing Abnormality of metabolism/homeostasis tmpxe7fu0cj_hp_relaxed.owl Laboratory abnormality|Metabolism abnormality UMLS:C4021768 HP:0004367|HP:0002146|HP:0004355 human_phenotype owl:Class GO:0031646 biolink:NamedThing positive regulation of nervous system process Any process that activates or increases the frequency, rate or extent of a neurophysiological process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of neurological process|upregulation of neurological process|positive regulation of neurophysiological process|stimulation of neurological process|up regulation of neurological process|positive regulation of neurological system process|activation of neurological process|up-regulation of neurological process biological_process owl:Class GO:0051240 biolink:NamedThing positive regulation of multicellular organismal process Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. tmpxe7fu0cj_hp_relaxed.owl upregulation of multicellular organismal process|up regulation of multicellular organismal process|activation of multicellular organismal process|up-regulation of multicellular organismal process|stimulation of multicellular organismal process biological_process owl:Class HP:0025500 biolink:NamedThing Class II obesity Obesity with a body mass index of 35 to 39.9 kg per square meter. tmpxe7fu0cj_hp_relaxed.owl Obesity grade 2 2017-05-14 20:08:43+00:00 HPO:probinson owl:Class HP:0001513 biolink:NamedThing Obesity Accumulation of substantial excess body fat. tmpxe7fu0cj_hp_relaxed.owl Obesity|Having too much body fat SNOMEDCT_US:414915002|UMLS:C0028754|SNOMEDCT_US:414916001|MSH:D009765 human_phenotype owl:Class HP:0005542 biolink:NamedThing Prolonged whole-blood clotting time An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot. tmpxe7fu0cj_hp_relaxed.owl Prolonged clotting time UMLS:C0151563 HP:0003229 human_phenotype owl:Class HP:0001928 biolink:NamedThing Abnormality of coagulation An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. tmpxe7fu0cj_hp_relaxed.owl Haemorrhagic disorders|Coagulation abnormalities|Coagulation abnormality|Blood coagulation disorder|Abnormal blood coagulation studies SNOMEDCT_US:362970003|UMLS:C1846821|MSH:D001778|SNOMEDCT_US:64779008|MSH:D006474|UMLS:C0005779|UMLS:C0019087 human_phenotype owl:Class HP:0010188 biolink:NamedThing Curved distal toe phalanx A deviation from the normal straight form of one or more distal toe phalanges. tmpxe7fu0cj_hp_relaxed.owl Curved distal phalanges of the toes|Curved outermost bone of the toe UMLS:C4021324 doelkens 2009-05-29T01:52:41Z human_phenotype owl:Class HP:0009568 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Hypoplastic/aplastic middle phalanx of index finger|Absent/underdeveloped middle index finger bone|Absent/hypoplastic middle phalanx of 2nd finger|Absent/small middle index finger bone UMLS:C1862144 doelkens 2009-01-28T05:10:24Z HP:0006221 human_phenotype owl:Class HP:0009552 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped index finger bone|Absent/small index finger bone UMLS:C4024298 doelkens 2009-01-21T10:20:26Z human_phenotype owl:Class HP:0010911 biolink:NamedThing Hyperleucinemia An increased concentration of leucine in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood leucine concentration SNOMEDCT_US:24013007|UMLS:C0268576 Normal leucine blood levels are around 120-160 micromole per liter. peter 2010-12-08T08:45:56Z human_phenotype owl:Class HP:0004357 biolink:NamedThing Abnormal circulating leucine concentration Any deviation from the normal circulation of leucine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025341 peter 2008-03-17T03:02:00Z human_phenotype owl:Class HP:0100083 biolink:NamedThing Ivory epiphyses of the 5th toe Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the little toe bone|Increased bone density of end part of the pinkie toe bone|Increased bone density of end part of the pinky toe bone UMLS:C4022338 doelkens 2010-06-24T10:00:02Z human_phenotype owl:Class HP:0010168 biolink:NamedThing Ivory epiphyses of the toes tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the toes UMLS:C4023991 doelkens 2009-05-29T01:34:06Z human_phenotype owl:Class HP:0001361 biolink:NamedThing Nystagmus-induced head nodding Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025788 human_phenotype owl:Class HP:0000639 biolink:NamedThing Nystagmus Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. tmpxe7fu0cj_hp_relaxed.owl Involuntary, rapid, rhythmic eye movements UMLS:C0028738|MSH:D009759|SNOMEDCT_US:563001 owl:Class GO:0032880 biolink:NamedThing regulation of protein localization Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. tmpxe7fu0cj_hp_relaxed.owl regulation of cellular protein localisation|regulation of protein localisation|regulation of cellular protein localization https://github.com/geneontology/go-ontology/issues/22021 jl 2015-01-20T14:32:14Z GO:1903827 biological_process owl:Class HP:0031619 biolink:NamedThing Anterior chamber flare grade 2+ Moderate anterior chamber flare (iris and lens details clear). tmpxe7fu0cj_hp_relaxed.owl 2017-12-16 13:29:55+00:00 peter owl:Class HP:0031616 biolink:NamedThing Anterior chamber flare An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber. tmpxe7fu0cj_hp_relaxed.owl 2017-12-16 13:18:34+00:00 Anterior chamber flare grade 0 (i.e., a normal finding) should be coded as the negation of this term. peter owl:Class CL:0002258 biolink:NamedThing thyroid follicular cell A cell type that varies from squamous to columnar, depending on their activity with microvillus directed luminally. This cell produces and secretes thyroid hormones. tmpxe7fu0cj_hp_relaxed.owl principal cell of thyroid gland|thyroid gland follicular cell|follicular cell of thyroid gland CALOHA:TS-1285|BTO:0003736|FMA:68782 tmeehan 2010-09-08T01:50:08Z cell owl:Class CL:0002257 biolink:NamedThing epithelial cell of thyroid gland An epithelial cell of thyroid gland. tmpxe7fu0cj_hp_relaxed.owl FMA:256167 tmeehan 2010-09-08T01:46:51Z CL:1000297 cell owl:Class GO:0048666 biolink:NamedThing neuron development The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0048468 biolink:NamedThing cell development The process whose specific outcome is the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpxe7fu0cj_hp_relaxed.owl terminal differentiation biological_process owl:Class HP:0100489 biolink:NamedThing Proximal/middle symphalangism of 2nd toe Bony fusion of the middle and proximal phalanges of the 2nd toe. tmpxe7fu0cj_hp_relaxed.owl Symphalangism of the middle and proximal phalanges of the 2nd toe|Fused middle and innermost bones of 2nd toe UMLS:C4020972 doelkens 2010-11-18T06:49:16Z HP:0100479 human_phenotype owl:Class HP:0010410 biolink:NamedThing Symphalangism affecting the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Fused middle bone of 2nd toe UMLS:C4023845 doelkens 2009-07-16T12:43:52Z human_phenotype owl:Class HP:0030426 biolink:NamedThing Ossifying fibroma A benign central bone tumor composed of fibrous connective tissue within which bone is formed. tmpxe7fu0cj_hp_relaxed.owl MSH:D018214|UMLS:C0206640|SNOMEDCT_US:25603007|SNOMEDCT_US:302863006|SNOMEDCT_US:80699009|SNOMEDCT_US:302862001 owl:Class HP:0010614 biolink:NamedThing Fibroma Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3041|UMLS:C0016045|SNOMEDCT_US:424568000|MSH:D005350|SNOMEDCT_US:112682009 sandra1 2009-10-28T05:52:39Z human_phenotype owl:Class HP:0009442 biolink:NamedThing Curved phalanges of the 3rd finger Curved appearance of the phalanges of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Curved bones of middle finger UMLS:C4024359 doelkens 2009-01-14T04:09:01Z human_phenotype owl:Class HP:0009770 biolink:NamedThing Curved phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Curved hand bones UMLS:C4024211 doelkens 2009-02-02T11:38:04Z human_phenotype owl:Class UBERON:0018664 biolink:NamedThing neck of bone element The neck region of a bone organ. tmpxe7fu0cj_hp_relaxed.owl bone neck|neck of bone uberon owl:Class HP:0007033 biolink:NamedThing Cerebellar dysplasia Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3278322 Any part of the cerebellum can be dysplastic, from small focal regions within one hemisphere to abnormal foliation throughout the cerebellum. Hypoplastic cerebella are frequently also dysmorphic, as observed in tubulinopathies and cobblestone malformations. HP:0006893 owl:Class GO:0002264 biolink:NamedThing endothelial cell activation involved in immune response A change in the morphology or behavior of an endothelial cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. tmpxe7fu0cj_hp_relaxed.owl endothelial cell activation during immune response biological_process owl:Class GO:0042118 biolink:NamedThing endothelial cell activation The change in morphology and behavior of an endothelial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0004293 biolink:NamedThing Synostosis of second metacarpal-trapezoid Fusion of the second metacarpal-trapezoid. tmpxe7fu0cj_hp_relaxed.owl Fusion of second metacarpal-trapezoid UMLS:C4021665 human_phenotype owl:Class HP:0009705 biolink:NamedThing Synostosis involving the 2nd metacarpal tmpxe7fu0cj_hp_relaxed.owl Fusion involving the 2nd long bone of hand UMLS:C4024228 doelkens 2009-01-30T04:32:03Z human_phenotype owl:Class UBERON:0004200 biolink:NamedThing kidney pyramid Kidney pyramids are the conical arrangements of tubules that constitute the renal medulla in a multi-lobed mammalian kidney; they contain the loops of Henle and the medullary collecting ducts. tmpxe7fu0cj_hp_relaxed.owl pyramid|Malpighian pyramid|medullary pyramid|pyramid of Malphigi|pyramid of Malpighi|renal medullary region|pyramides renales|renal pyramid|pyramis renalis|Malphigian pyramid UMLS:C0227629|UMLS:C1514613|BTO:0003926|NCIT:C33436|NCIT:C12886|MA:0001654|FMA:258870 Kidney:PioM.png UBERON:0002449|UBERON:0005098 uberon owl:Class not the same as FMA:50609 Pyramid (which is a volume / dimensional entity) CHEBI:78574 biolink:NamedThing pyrimidinecarboxylic acid Any pyrimidine that bears one or more carboxylic acid substituents. tmpxe7fu0cj_hp_relaxed.owl pyrimidinecarboxylic acids chebi_ontology owl:Class CHEBI:33575 biolink:NamedThing carboxylic acid A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid. tmpxe7fu0cj_hp_relaxed.owl carboxylic acid|Carbonsaeure|acide carboxylique|RC(=O)OH|acides carboxyliques|Carbonsaeuren|acidos carboxilicos|acido carboxilico|carboxylic acids|Karbonsaeure 0 CHO2R 45.01740 44.99765 OC([*])=O PMID:17147560|PMID:18433345|Wikipedia:Carboxylic_acid CHEBI:13627|CHEBI:23027|CHEBI:13428 chebi_ontology owl:Class UBERON:0035110 biolink:NamedThing lateral plantar nerve A plantar nerve that supplies the lateral side of the plantar part of the foot, including pedal digit 5. tmpxe7fu0cj_hp_relaxed.owl external plantar nerve|nervus plantaris lateralis FMA:44724 uberon owl:Class UBERON:0035109 biolink:NamedThing plantar nerve A nerve that innervates the sole of the foot. Planar nerves arise from the posterior branch of the tibial nerve. tmpxe7fu0cj_hp_relaxed.owl nerve, plantar NCIT:C77674 Divided into medial and plantar based on the location of the foot supplied uberon owl:Class HP:0000534 biolink:NamedThing Abnormal eyebrow morphology An abnormality of the eyebrow. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the eyebrow UMLS:C4011556 owl:Class UBERON:0006924 biolink:NamedThing stomach glandular epithelium A glandular epithelium that lines the stomach. The stomach's glandular epithelium is characterized by the presence of gastric glands. tmpxe7fu0cj_hp_relaxed.owl gastric gland epithelium|epithelium of gastric gland MA:0002784|FMA:63458|EMAPA:35814|EMAPA:17623 we follow Kardong in treating the glandular epithelium as a distinct entity, and thus as an epithelium which has glands; FMA has 'epithelium of gastric gland', which is part of the gastric gland. uberon owl:Class UBERON:0006799 biolink:NamedThing glandular epithelium An epithelium that is composed primarily of secretory cells. tmpxe7fu0cj_hp_relaxed.owl NCIT:C45715|NCIT:C43370|UMLS:C1708242|BTO:0002991|UMLS:C0682578 consider splitting epithelium from epithelial tissue uberon owl:Class CHEBI:35703 biolink:NamedThing xenobiotic A xenobiotic (Greek, xenos "foreign"; bios "life") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means. tmpxe7fu0cj_hp_relaxed.owl Xenobiotic|xenobiotic|xenobiotics|xenobiotic compounds KEGG:C06708|Wikipedia:Xenobiotic CHEBI:27333|CHEBI:10074 chebi_ontology owl:Class CHEBI:24432 biolink:NamedThing biological role A role played by the molecular entity or part thereof within a biological context. tmpxe7fu0cj_hp_relaxed.owl biological function chebi_ontology owl:Class HP:0030104 biolink:NamedThing Abnormal muscle fiber gamma sarcoglycan Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre gamma sarcoglycan UMLS:C4022641 owl:Class HP:0002219 biolink:NamedThing Facial hypertrichosis Excessive, increased hair growth located in the facial region. tmpxe7fu0cj_hp_relaxed.owl Increased facial hair growth UMLS:C1851400|MSH:C565029 human_phenotype owl:Class HP:0000998 biolink:NamedThing Hypertrichosis Hypertrichosis is increased hair growth that is abnormal in quantity or location. tmpxe7fu0cj_hp_relaxed.owl Increased hair growth on body|Excessive hair growth SNOMEDCT_US:29966009|SNOMEDCT_US:271607001|MSH:D006983|UMLS:C0020555 human_phenotype owl:Class UBERON:0004500 biolink:NamedThing skeletal muscle tissue of deltoid A portion of skeletal muscle tissue that is part of a deltoid [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl skeletal muscle tissue of deltoid muscle FMA:261732 uberon owl:Class UBERON:0001125 biolink:NamedThing serratus ventralis The serratus ventralis is a muscle that originates on the surface of the upper eight or nine ribs at the side of the chest and inserts along the entire anterior length of the medial border of the scapula. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl serratus anterior|musculus serratus anterior|serratus anterior muscle|serratus lateralis|serratus ventralis muscle|Boxer's muscle FMA:13397|OpenCyc:Mx4rvWn_D5wpEbGdrcN5Y29ycA|EHDAA2:0001832|EMAPA:18525|MA:0002378|VHOG:0000679|EHDAA:9463|NCIT:C53014|UMLS:C1710059 Serratus:anterior.png uberon owl:Class UBERON:0034908 biolink:NamedThing scapular muscle Any of the muscles that are responsible for moving the scapula. In humans these are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0001620 biolink:NamedThing central retinal artery The central retinal artery (retinal artery) branches off the ophthalmic artery, running inferior to the optic nerve within its dural sheath to the eyeball. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl central artery of the retina|retinal artery|central artery of retina|arteria centralis retinae|Zinn's artery GAID:508|NCIT:C52997|UMLS:C0035301|MESH:D012161|FMA:49879|EMAPA:37113|MA:0002038 Gray514:updated.png uberon owl:Class CHEBI:26833 biolink:NamedThing sulfur atom tmpxe7fu0cj_hp_relaxed.owl soufre|azufre|Schwefel|theion|sulfur|Elemental sulfur|sulphur|S|16S 0 S InChI=1S/S NINIDFKCEFEMDL-UHFFFAOYSA-N 32.06600 31.97207 [S] CAS:7704-34-9|KEGG:C00087|PPDB:605|KEGG:D06527|WebElements:S chebi_ontology owl:Class CHEBI:25585 biolink:NamedThing nonmetal atom tmpxe7fu0cj_hp_relaxed.owl Nichtmetalle|no metal|no metales|non-metaux|nonmetal|nonmetals|Nichtmetall|non-metal chebi_ontology owl:Class CHEBI:25235 biolink:NamedThing monomethoxybenzene Compounds containing a benzene skeleton substituted with one methoxy group. tmpxe7fu0cj_hp_relaxed.owl monomethoxybenzenes chebi_ontology owl:Class CHEBI:51683 biolink:NamedThing methoxybenzenes Any aromatic ether that consists of a benzene skeleton substituted with one or more methoxy groups. tmpxe7fu0cj_hp_relaxed.owl methoxybenzene chebi_ontology owl:Class GO:2000109 biolink:NamedThing regulation of macrophage apoptotic process Any process that modulates the frequency, rate or extent of macrophage apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of AICD|regulation of activation-induced cell death|regulation of macrophage apoptosis mah 2010-09-15T01:44:15Z biological_process owl:Class HP:0010386 biolink:NamedThing Curved 5th toe phalanx A deviation from the normal straight form of one or more phalanges of the fifth toe. tmpxe7fu0cj_hp_relaxed.owl Curved pinky toe bones|Curved phalanges of the 5th toe|Curved pinkie toe bones|Curved little toe bones UMLS:C4021276 doelkens 2009-07-16T11:52:18Z human_phenotype owl:Class GO:0072089 biolink:NamedThing stem cell proliferation The multiplication or reproduction of stem cells, resulting in the expansion of a stem cell population. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. tmpxe7fu0cj_hp_relaxed.owl mah 2010-02-08T02:03:36Z biological_process owl:Class GO:0008283 biolink:NamedThing cell population proliferation The multiplication or reproduction of cells, resulting in the expansion of a cell population. tmpxe7fu0cj_hp_relaxed.owl cell proliferation This term was moved out from being a child of 'cellular process' because it is a cell population-level process, and cellular processes are restricted to those processes that involve individual cells. Also note that this term is intended to be used for the proliferation of cells within a multicellular organism, not for the expansion of a population of single-celled organisms. biological_process owl:Class HP:0000795 biolink:NamedThing Abnormality of the urethra An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. tmpxe7fu0cj_hp_relaxed.owl Urethra issue UMLS:C4025826 human_phenotype owl:Class HP:0000032 biolink:NamedThing Abnormality of male external genitalia An abnormality of male external genitalia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025897 owl:Class HP:0002244 biolink:NamedThing Abnormality of the small intestine An abnormality of the small intestine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025717 owl:Class HP:0002242 biolink:NamedThing Abnormal intestine morphology An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the intestine|Enteropathy UMLS:C0021831|MSH:D007410|SNOMEDCT_US:85919009 HP:0002628 human_phenotype owl:Class GO:1905559 biolink:NamedThing positive regulation of mitotic nuclear envelope disassembly Any process that activates or increases the frequency, rate or extent of mitotic nuclear envelope disassembly. tmpxe7fu0cj_hp_relaxed.owl upregulation of mitotic nuclear envelope breakdown|activation of mitotic nuclear envelope breakdown|activation of mitotic nuclear envelope disassembly|upregulation of mitotic nuclear envelope catabolism|up regulation of mitotic nuclear envelope breakdown|positive regulation of mitotic nuclear envelope catabolism|up regulation of mitotic nuclear envelope degradation|positive regulation of mitotic nuclear envelope degradation|up-regulation of mitotic nuclear envelope degradation|up-regulation of mitotic nuclear envelope breakdown|positive regulation of mitotic nuclear envelope breakdown|activation of mitotic nuclear envelope degradation|up-regulation of mitotic nuclear envelope disassembly|upregulation of mitotic nuclear envelope disassembly|activation of mitotic nuclear envelope catabolism|upregulation of mitotic nuclear envelope degradation|up-regulation of mitotic nuclear envelope catabolism|up regulation of mitotic nuclear envelope disassembly|up regulation of mitotic nuclear envelope catabolism hbye 2016-10-14T13:15:17Z biological_process owl:Class GO:1905557 biolink:NamedThing regulation of mitotic nuclear envelope disassembly Any process that modulates the frequency, rate or extent of mitotic nuclear envelope disassembly. tmpxe7fu0cj_hp_relaxed.owl regulation of mitotic nuclear envelope catabolism|regulation of mitotic nuclear envelope degradation|regulation of mitotic nuclear envelope breakdown hbye 2016-10-14T13:14:57Z biological_process owl:Class HP:0009162 biolink:NamedThing Absent middle phalanx of 5th finger Absence of the middle phalanx of the little (5th) finger. tmpxe7fu0cj_hp_relaxed.owl Absent middle bone of pinky finger|Absent middle bone of pinkie finger|Absent middle bone of little finger|Aplasia of the middle phalanx of the 5th finger UMLS:C3277750 peter 2008-12-22T06:08:40Z HP:0005774 human_phenotype owl:Class HP:0009238 biolink:NamedThing Aplasia of the 5th finger Absent 5th (little) finger. tmpxe7fu0cj_hp_relaxed.owl Absent pinkie finger|Absent pinky finger|Absent little finger UMLS:C4024508 doelkens 2009-01-05T07:02:48Z human_phenotype owl:Class HP:3000007 biolink:NamedThing Abnormality of mentalis muscle An abnormality of a mentalis muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073216 vasilevs 2015-02-26T03:43:12Z human_phenotype owl:Class HP:0430019 biolink:NamedThing Abnormality of muscle of facial expression An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression. tmpxe7fu0cj_hp_relaxed.owl Abnormality of musculature of facial expression|Abnormality of muscle of facial expression UMLS:C4073201 owl:Class HP:0003528 biolink:NamedThing Elevated calcitonin tmpxe7fu0cj_hp_relaxed.owl Elevated calcitonin UMLS:C1868394 Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone. human_phenotype owl:Class HP:0100530 biolink:NamedThing Abnormal calcium-phosphate regulating hormone level Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium. tmpxe7fu0cj_hp_relaxed.owl Abnormal Ca2+ PO4 regulating hormone level|Abnormal Ca-PHOS regulating hormone level UMLS:C4022031 doelkens 2010-12-20T12:00:26Z owl:Class HP:0010039 biolink:NamedThing Aplasia/Hypoplasia of the 3rd metacarpal Aplasia or Hypoplasia affecting the 3rd metacarpal. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped 3rd long bone of hand|Absent/small 3rd long bone of hand UMLS:C4024089 doelkens 2009-05-27T04:35:51Z human_phenotype owl:Class HP:0005914 biolink:NamedThing Aplasia/Hypoplasia involving the metacarpal bones Aplasia or Hypoplasia affecting the metacarpal bones. tmpxe7fu0cj_hp_relaxed.owl Absent/small long bones of hand|Metacarpal aplasia/hypoplasia|Absent/underdeveloped long bones of hand|Hypoplastic metacarpals|Absent or hypoplastic metacarpals|Hypoplastic/absent metacarpal bones|Aplastic/hypoplastic metacarpals|Hypoplastic/absent metacarpals UMLS:C1836192 peter 2008-03-27T02:14:00Z HP:0006007 human_phenotype owl:Class GO:0002606 biolink:NamedThing positive regulation of dendritic cell antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of dendritic cell antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl activation of dendritic cell antigen processing and presentation|up-regulation of dendritic cell antigen processing and presentation|up regulation of dendritic cell antigen processing and presentation|stimulation of dendritic cell antigen processing and presentation|upregulation of dendritic cell antigen processing and presentation biological_process owl:Class GO:0002579 biolink:NamedThing positive regulation of antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl stimulation of antigen processing and presentation|up regulation of antigen processing and presentation|upregulation of antigen processing and presentation|up-regulation of antigen processing and presentation|activation of antigen processing and presentation biological_process owl:Class HP:0011994 biolink:NamedThing Abnormal atrial septum morphology An abnormality of the interatrial septum. tmpxe7fu0cj_hp_relaxed.owl Abnormal interatrial septum morphology|Abnormality of the atrial septum SNOMEDCT_US:253363004|UMLS:C0344722|Fyler:2002 peter 2012-07-19T11:34:27Z human_phenotype owl:Class HP:0001671 biolink:NamedThing Abnormal cardiac septum morphology An anomaly of the intra-atrial or intraventricular septum. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the cardiac septa|Heart septal defect|Septal defects MSH:D006343|UMLS:C0018816|SNOMEDCT_US:59494005|SNOMEDCT_US:396351009|SNOMEDCT_US:253273004 HP:0004760|HP:0001690 owl:Class HP:0025343 biolink:NamedThing Lupus anticoagulant Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. tmpxe7fu0cj_hp_relaxed.owl 2017-02-12 13:19:32+00:00 Most individuals with lupus anticoagulant do not have lupus erythematosus or other systemic autoimmune disorders. One of the tests for lupus anticoagulant is the dilute Russell's viper venom time (dRVVT). HPO:probinson owl:Class UBERON:0007195 biolink:NamedThing stroma of bone marrow The stroma of the bone marrow is all tissue not directly involved in the primary function of hematopoiesis. The yellow bone marrow belongs here, and makes the majority of the bone marrow stroma, in addition to stromal cells located in the red bone marrow. Yellow bone marrow is found in the Medullary cavity. Still, the stroma is indirectly involved in hematopoiesis, since it provides the hematopoietic microenvironment that facilitates hematopoiesis by the parenchymal cells. For instance, they generate colony stimulating factors, affecting hematopoiesis. tmpxe7fu0cj_hp_relaxed.owl bone marrow stroma CALOHA:TS-0085|Wikipedia:Bone_marrow#Stroma|FMA:21426 uberon owl:Class HP:0025130 biolink:NamedThing Decreased small intestinal mucosa lactase level Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges. tmpxe7fu0cj_hp_relaxed.owl Lactase deficiency 2016-11-15 12:01:54+00:00 HPO:probinson owl:Class HP:0025129 biolink:NamedThing Abnormal small intestinal mucosa morphology A structural anomaly of the mucous lining of the small intestine. tmpxe7fu0cj_hp_relaxed.owl 2016-11-15 11:57:47+00:00 HPO:probinson owl:Class HP:0020189 biolink:NamedThing Posterior predominant thick cortex pachygyria Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. tmpxe7fu0cj_hp_relaxed.owl Pachygyria with cortical thickness over 10 mm posterior predominant|Occipital predomimant classic pachygyria robinp 2019-09-03 13:01:16+00:00 owl:Class HP:0020187 biolink:NamedThing Thick pachygyria Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. tmpxe7fu0cj_hp_relaxed.owl Pachygyria with cortical thickness above 10 mm|Pachygyria with cortical thickness > 10 mm robinp 2019-09-03 12:56:36+00:00 owl:Class HP:0012743 biolink:NamedThing Abdominal obesity Excessive fat around the stomach and abdomen. tmpxe7fu0cj_hp_relaxed.owl Abdominal obesity|Central obesity UMLS:C0311277|MSH:D056128|SNOMEDCT_US:248311001 peter 2014-03-23T05:00:05Z human_phenotype owl:Class UBERON:0019197 biolink:NamedThing dorsal nerve of penis The deep terminal division of the pudendal nerve that runs along the dorsum of the penis and innervates the the corpus cavernosum penis, the prepuce and the glans penis. tmpxe7fu0cj_hp_relaxed.owl dorsal nerve of penis|dorsal nerves of the penis|nervus dorsalis penis |nervus dorsalis penis FMA:21869 uberon owl:Class UBERON:0001021 biolink:NamedThing nerve An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures. tmpxe7fu0cj_hp_relaxed.owl nerves|peripheral nerve|neural subtree BTO:0001027|FMA:65132|UMLS:C0027740|SCTID:256864008|TAO:0007009|EV:0100371|NCIT:C12768|NCIT:C12466|UMLS:C0031119|NLX:147826|BTO:0000925|SCTID:244457007|OpenCyc:Mx4rwP3lkpwpEbGdrcN5Y29ycA|GAID:758|XAO:0003047|EHDAA:2851|CALOHA:TS-0772|EMAPA:32815|EHDAA:4657|GAID:747|galen:Nerve|EHDAA:3776|EHDAA2:0003137|BSA:0000098|AEO:0000137|MA:0000217|MA:0000228|Wikipedia:Nervous_system|FBbt:00005105|BAMS:n|BIRNLEX:1615|AAO:0011070|EMAPA:32808|XAO:0000204|FMA:65239|MESH:D010525|VHOG:0000901|ZFA:0007009 uberon owl:Class A portion of tissue which is a fasiculated group of axons.[TAO] nervous PATO:0002181 biolink:NamedThing displaced A positional quality inhering in a bearer by virtue the bearer's being changed in position. tmpxe7fu0cj_hp_relaxed.owl 2010-03-01T02:56:33Z quality owl:Class PATO:0000140 biolink:NamedThing position A spatial quality inhering in a bearer by virtue of the bearer's spatial location relative to other objects in the vicinity. tmpxe7fu0cj_hp_relaxed.owl placement|relational spatial quality|location PATO:0001631|PATO:0001032 quality owl:Class HP:0009955 biolink:NamedThing Partial duplication of the proximal phalanx of the 2nd finger Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the proximal bones of the index finger UMLS:C4024147 doelkens 2009-05-15T02:06:11Z human_phenotype owl:Class HP:0009956 biolink:NamedThing Partial duplication of the phalanges of the 2nd finger A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the bones of the index finger UMLS:C4024146 doelkens 2009-05-15T02:07:41Z human_phenotype owl:Class GO:1902908 biolink:NamedThing regulation of melanosome transport Any process that modulates the frequency, rate or extent of melanosome transport. tmpxe7fu0cj_hp_relaxed.owl als 2014-04-17T11:40:16Z biological_process owl:Class GO:0051049 biolink:NamedThing regulation of transport Any process that modulates the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0004332 biolink:NamedThing proximal phalanx of pedal digit 1 A proximal phalanx that is part of a pedal digit 1 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal phalanx of big toe|proximal phalanx of pedal digit I|hallux proximal phalanx|proximal phalanx of great toe|proximal phalanx of hallux|foot digit 1 proximal phalanx|proximal phalanx of the 1st toe|predal digit 1 proximal phalanx|pedal phalanx I-1|proximal phalanx of foot digit 1 FMA:43252 uberon owl:Class UBERON:0004302 biolink:NamedThing proximal phalanx Proximal-most phalanx within a digit. tmpxe7fu0cj_hp_relaxed.owl phalanx 1|phalanx I|proximal-most phalanx AAO:0010680|MA:0002916|EMAPA:35716 uberon owl:Class Proximal phalanges are bones found in the limbs of most vertebrates. In humans, they are the bones at the base of a toe or finger, the prominent, knobby ends of which are often called the knuckles. In other vertebrates, proximal phalanges have a similar placement in the corresponding limbs, be they paw, wing or fin. In many species, they are the longest and thickest phalanx ('finger' bone) 1 HP:0009209 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 5th finger Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the middle bone of pinky finger|Increased bone density of end part of the middle bone of pinkie finger|Increased bone density of end part of the middle bone of little finger UMLS:C4024531 doelkens 2009-01-05T05:22:18Z human_phenotype owl:Class GO:0060124 biolink:NamedThing positive regulation of growth hormone secretion Any process that increases the frequency, rate or extent of the regulated release of growth hormone from a cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0048520 biolink:NamedThing positive regulation of behavior Any process that activates or increases the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. tmpxe7fu0cj_hp_relaxed.owl upregulation of behavior|stimulation of behavior|up-regulation of behavior|activation of behavior|up regulation of behavior biological_process owl:Class GO:0048518 biolink:NamedThing positive regulation of biological process Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. tmpxe7fu0cj_hp_relaxed.owl positive regulation of physiological process|up regulation of biological process|stimulation of biological process|up-regulation of biological process|activation of biological process|upregulation of biological process GO:0043119 biological_process owl:Class HP:0012027 biolink:NamedThing Laryngeal edema An abnormal accumulation of fluid and swelling in the tissues of the larynx. tmpxe7fu0cj_hp_relaxed.owl Laryngeal oedema UMLS:C0023052|MSH:D007819|SNOMEDCT_US:51599000 peter 2012-07-26T10:51:45Z human_phenotype owl:Class HP:0000969 biolink:NamedThing Edema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. tmpxe7fu0cj_hp_relaxed.owl Oedema|Water retention|Hydrops|Dropsy|Fluid retention UMLS:C0013604|SNOMEDCT_US:20741006|MSH:D004487|SNOMEDCT_US:79654002|SNOMEDCT_US:423666004|SNOMEDCT_US:267038008 Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability. HP:0000990 owl:Class HP:0008820 biolink:NamedThing Absent ossification of capital femoral epiphysis Lack of ossification of the proximal epiphysis of the femur. tmpxe7fu0cj_hp_relaxed.owl Absent ossification of femoral capital epiphyses UMLS:C1968686 The ossification center of the capital femoral epiphysis appears at the end of the first year after birth. human_phenotype owl:Class HP:0005003 biolink:NamedThing Aplasia/Hypoplasia of the capital femoral epiphysis Absence or underdevelopment of the proximal epiphysis of the femur. tmpxe7fu0cj_hp_relaxed.owl Absent/small end part of innermost thighbone|Absent/underdeveloped end part of innermost thighbone UMLS:C4025261 human_phenotype owl:Class CHEBI:35724 biolink:NamedThing carbohydrate sulfate tmpxe7fu0cj_hp_relaxed.owl carbohydrate sulfates|carbohydrate sulphates chebi_ontology owl:Class CHEBI:26819 biolink:NamedThing sulfuric ester An ester of an alcohol and sulfuric acid. tmpxe7fu0cj_hp_relaxed.owl sulfuric acid ester|sulfuric acid esters|sulfate ester 0 O4SR2 96.06300 95.95173 [*]OS(=O)(=O)O[*] chebi_ontology owl:Class HP:0003761 biolink:NamedThing Calcinosis Formation of calcium deposits in any soft tissue. tmpxe7fu0cj_hp_relaxed.owl Calcium buildup in soft tissues of body SNOMEDCT_US:6595006|UMLS:C0006663|MSH:D002114 human_phenotype owl:Class HP:0030657 biolink:NamedThing Umbilical cord hematoma Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels. tmpxe7fu0cj_hp_relaxed.owl Umbilical cord haematoma UMLS:C0269855|SNOMEDCT_US:86256001 UToronto:chum owl:Class HP:0010881 biolink:NamedThing Abnormality of the umbilical cord An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta. tmpxe7fu0cj_hp_relaxed.owl Umbilical cord issue UMLS:C0266785|SNOMEDCT_US:90009001 peter 2010-09-13T08:24:04Z human_phenotype owl:Class PR:O35305 biolink:NamedThing tumor necrosis factor receptor superfamily member 11A (mouse) A tumor necrosis factor receptor superfamily member 11A that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl Tnfrsf11a|mTNFRSF11A|receptor activator of NF-KB (mouse)|ODFR (mouse)|CD265 (mouse)|osteoclast differentiation factor receptor (mouse)|Rank UniProtKB:O35305 Category=organism-gene. protein owl:Class PR:P01831 biolink:NamedThing Thy-1 membrane glycoprotein (mouse) A Thy-1 membrane glycoprotein that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl CD90 (mouse)|mTHY1|Thy1|Thy-1|Thy-1 antigen (mouse) UniProtKB:P01831 Category=organism-gene. protein owl:Class PR:000001843 biolink:NamedThing Thy-1 membrane glycoprotein A protein that is a translation product of the human THY1 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl Thy-1 antigen|THY1|CDw90|CD90|Thy-1 PIRSF:PIRSF038777 Category=gene. Requested by=CL. protein owl:Class UBERON:0007116 biolink:NamedThing primary dentition The set of teeth first in order or time of development that will be replaced by permanent dentition upon their loss. tmpxe7fu0cj_hp_relaxed.owl set of primary teeth|deciduous teeth|baby teeth|set of deciduous teeth|primary teeth|tooth of primary dentition|dentes decidui|milk teeth|deciduous dentition GAID:1252|FMA:75151|MESH:A14.254.245 uberon owl:Class UBERON:0003672 biolink:NamedThing dentition A collection of teeth arranged in some pattern in the mouth or other part of the body. The arrangement may be a simple row, a collection of rows, or a more elaborate structure, such as a toooth whorl. tmpxe7fu0cj_hp_relaxed.owl teeth|collection of teeth|teeth set|set of teeth|dentes GAID:1249|AAO:0000126|FMA:75150|MESH:A14.254|OpenCyc:Mx4rvVi65JwpEbGdrcN5Y29ycA|NCIT:C13072|UMLS:C0011443 uberon owl:Class Dentition refers to set of teeth, especially with regard to their number, kind, and arrangement, in the mouth.[AAO]|The teeth collectively in the dental arch. Dentition ordinarily refers to the natural teeth in position in their alveoli. (MeSH[ncithesaurus:Dentition]) In FMA this is an anatomical set HP:0004028 biolink:NamedThing Spurs of radial diaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025433 human_phenotype owl:Class HP:0004027 biolink:NamedThing Abnormality of radial diaphysis An anomaly of the radial diaphysis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025434 human_phenotype owl:Class GO:0045843 biolink:NamedThing negative regulation of striated muscle tissue development Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle development. tmpxe7fu0cj_hp_relaxed.owl down-regulation of striated muscle development|downregulation of striated muscle development|down regulation of striated muscle development|inhibition of striated muscle development biological_process owl:Class GO:0048635 biolink:NamedThing negative regulation of muscle organ development Any process that stops, prevents, or reduces the frequency, rate or extent of muscle development. tmpxe7fu0cj_hp_relaxed.owl inhibition of muscle development|down regulation of muscle development|down-regulation of muscle development|downregulation of muscle development biological_process owl:Class HP:0000206 biolink:NamedThing Glossitis Inflammation of the tongue. tmpxe7fu0cj_hp_relaxed.owl Inflammation of the tongue|Smooth swollen tongue|Lingual inflammation MSH:D005928|SNOMEDCT_US:45534005|UMLS:C0017675 human_phenotype owl:Class HP:0030809 biolink:NamedThing Abnormal tongue morphology Any structural anomaly of the tongue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280755 owl:Class HP:0002890 biolink:NamedThing Thyroid carcinoma The presence of a carcinoma of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl NCIT:C2916|MSH:D013964|UMLS:C0549473 human_phenotype owl:Class HP:0100031 biolink:NamedThing Neoplasm of the thyroid gland A tumor (abnormal growth of tissue) of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Neoplasia of the thyroid gland NCIT:C3262|UMLS:C0040136|MSH:D013964|SNOMEDCT_US:127018007 doelkens 2010-06-10T10:30:24Z owl:Class UBERON:0005868 biolink:NamedThing maxillary prominence The paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw. tmpxe7fu0cj_hp_relaxed.owl embryonic maxillary process|maxillary process of embryo|prominentia maxilaris|maxillary process UMLS:C1513037|EMAPA:17359|EHDAA2:0001070|EHDAA:5877|NCIT:C34206|FMA:293049 http://upload.wikimedia.org/wikipedia/commons/2/2d/Gray48.png uberon owl:Class UBERON:0022287 biolink:NamedThing tear film An aqueous substance that covers the anterior surface of the eyeball, keeping the cornea wet. tmpxe7fu0cj_hp_relaxed.owl precorneal film uberon owl:Class the thin acellular fluid layer that adheres to the most superficial layer of the corneal epithelium and lubricates and protects the ocular surface; the film is generally composed of three layers: (i) an inner mucous layer, secreted largely by the conjunctival goblet cells with contributions from the lacrimal glands, which coats the cornea, provides a hydrophobic layer, and allows for even distribution of the tear film; (ii) a middle aqueous layer, secreted by the lacrimal glands, which keeps the corneal surface moist, and provides a mechanism for oxygenation and nutrient exchange with the avascular anterior corneal tissue; and (iii) an outer lipid layer, secreted principally by the Meibomian (tarsal) glands although lipid tear elements also are contributed by the Harderian glands; tear film lipids form a monolayer on the tear surface, and function by enhancing the surface tension which supports the integrity of the tear film against collapse due to gravity and also slows down the loss of the tear film by evaporation; in addition , the lipid layer provides a glassy, smooth interface between the air and the transparent cornea maintenance of the avascular transparent corneal epithelium The tear film is structurally complex with three distinct layers: a surface lipid layer, a middle aqueous layer, and an inner mucus layer[http://physiologyonline.physiology.org/content/13/2/97] UBERON:0006314 biolink:NamedThing bodily fluid Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. tmpxe7fu0cj_hp_relaxed.owl fluid|body fluid EMAPA:37441|BIRNLEX:20|GAID:266|FMA:280556|galen:BodyFluid|MESH:D001826|Wikipedia:Body_fluid uberon owl:Class UBERON:0002533 biolink:NamedThing post-anal tail bud The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node. tmpxe7fu0cj_hp_relaxed.owl tail bud mesenchyme|end bud|tailbud|tail bud MIAA:0000070|EFO:0002748|EHDAA:1595|XAO:0000107|AAO:0011104|EHDAA2:0001976|MAT:0000070|BTO:0001445|ZFA:0000077|EMAPA:16580|TAO:0000077|VHOG:0000201 See notes from https://github.com/obophenotype/uberon/wiki/The-neural-crest uberon owl:Class Rapidly proliferating mass of cells at the caudal extremity of the embryo. Its formation is reflected in a caudal carving of the posterior portion of the archenteric canal at NF stage 22. With its further outgrowth, the postanal gut primordium becomes stretched. Its lumen is in broad communication with the hindgut at NF stage 25.[AAO] (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (5) a larva or embryo with a postanal tail.[well established][VHOG] UBERON:0006213 biolink:NamedThing carpus cartilage element A cartilaginous condensation that has the potential to develop into a carpal bone. tmpxe7fu0cj_hp_relaxed.owl carpal cartilage condensation EHDAA2:0000221|VHOG:0001123|EHDAA:8544|EMAPA:18102 uberon owl:Class UBERON:0005863 biolink:NamedThing cartilaginous condensation Cell condensation that is an aggregation of mesenchymal cells that are committed to differentiate into chondroblasts and chondrocytes. tmpxe7fu0cj_hp_relaxed.owl cartilagenous condensation|chondrogenic condensation|cartilage condensation AEO:0000147|XAO:0004022|EMAPA:32731|VSAO:0000092|EHDAA2_RETIRED:0003147 uberon owl:Class isa cell condensation in VSAO; has_part chondroblast in AEO HP:0011006 biolink:NamedThing Abnormal morphology of the musculature of the neck An abnormality of the neck musculature. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cervical musculature|Neck muscle issue|Abnormality of the musculature of the neck UMLS:C4023601 peter 2011-02-19T11:15:01Z human_phenotype owl:Class HP:0025668 biolink:NamedThing Abnormal neck morphology Any structural anomaly of the neck region. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0009132 biolink:NamedThing Abnormal tarsal bone mineral density This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of bone mineral density involving tarsal bones UMLS:C4021522 peter 2008-04-17T02:39:00Z human_phenotype owl:Class HP:0033845 biolink:NamedThing Sense of impending doom A feeling that something life-threatening or tragic is about to occur. tmpxe7fu0cj_hp_relaxed.owl Sense of doom 2021-06-01 16:27:25+00:00 peter owl:Class HP:0100852 biolink:NamedThing Abnormal fear/anxiety-related behavior An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. tmpxe7fu0cj_hp_relaxed.owl Abnormal fear/anxiety-related behaviour UMLS:C4018849 doelkens 2011-06-23T11:13:16Z HP:0001296 owl:Class UBERON:0004265 biolink:NamedThing outflow tract myocardium A myocardium that is part of a outflow tract [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl outflow tract muscle of heart|outflow tract heart muscle|muscle of heart of outflow tract|outflow tract cardiac muscle|myocardium of outflow tract|heart myocardium of outflow tract|outflow tract heart myocardium|heart muscle of outflow tract|cardiac muscle of outflow tract EHDAA2:0001358|EMAPA:35623|MA:0000489|VHOG:0000603 uberon owl:Class (...) (theme) is how the vertebrate cardiovascular system differs from that of the presumptive evolutionary chordate ancestor. (...) At best we can tell there are two essential new ingredients: (1) vertebrates all have a continuous endothelial lining to the heart and vessels and (2) vertebrates have developed a second chamber in the heart, one designed for generating high systemic blood pressure.[uncertain][VHOG] UBERON:0002349 biolink:NamedThing myocardium The middle layer of the heart, comprised mainly of striated cardiac muscle fibers. tmpxe7fu0cj_hp_relaxed.owl heart myocardium|heart muscle|muscle of heart|cardiac muscle FMA:9462|EV:0100022|OpenCyc:Mx4ro36AFrCvEduAAAAOpmP6tw|EFO:0000819|MA:0000164|EHDAA2:0004150|XAO:0000065|EMAPA:32688|Wikipedia:Myocardium|UMLS:C0027061|RETIRED_EHDAA2:0001220|ZFA:0001319|MESH:D009206|SCTID:362012001|MAT:0000453|AAO:0010410|NCIT:C12371|CALOHA:TS-0440|GAID:173|VHOG:0000083|TAO:0001319|BTO:0000901|galen:Myocardium|BSA:0000089 http://upload.wikimedia.org/wikipedia/commons/6/6e/Glanzstreifen.jpg TODO - check 'Myocardum proper' in FMA. We superclass the more generic class for now. FMA has is_a muscle layer - should we add this? ZFA and BTO both have is_a 'cardiac muscle' (tissue?). But in U we also follow FMA and have cardiac muscle tissue of myocardium (there is also Fibrocollagenous connective tissue of myocardium), which would be identical (see issue-10). Note that GO also treats left/right ventricular cardiac muscle tissue synonymous with ventricular myocardium uberon owl:Class The middle layer of the heart, consisting of cardiac muscle.[AAO]|Robust muscular tunic of the heart which forms the basic part of its walls. Its external surface is covered by the pericardium and its internal one by the endocardium. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] myocardial HP:0003116 biolink:NamedThing Abnormal echocardiogram An abnormality detectable by sonography of the heart (echocardiography). tmpxe7fu0cj_hp_relaxed.owl Abnormal echocardiography|Abnormal echocardiogram SNOMEDCT_US:169241000|UMLS:C0476369 Note that while structural heart anomalies can cause abnormal echocardiograpy findings, structural abnormalities are detectable by multiple imaging modalities and should be coded using terms from the hierarchy under 'Abnormality of cardiac morphology' (HP:0001627). human_phenotype owl:Class HP:0003045 biolink:NamedThing Abnormal patella morphology Abnormality of the patella (knee cap). tmpxe7fu0cj_hp_relaxed.owl Patellar abnormality|Abnormality of the patella|Abnormal kneecap UMLS:C4021743 human_phenotype owl:Class HP:0002815 biolink:NamedThing Abnormality of the knee An abnormality of the knee joint or surrounding structures. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the knee UMLS:C4025676 human_phenotype owl:Class UBERON:5106050 biolink:NamedThing digit 3 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of digit 3 plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl digit III digitopodial skeleton|digit 3 skeleton|digit 3 this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class HP:0033405 biolink:NamedThing Abnormal circulating organic amino compound concentration Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 15:46:18+00:00 peter owl:Class HP:0032180 biolink:NamedThing Abnormal circulating metabolite concentration An abnormal level of an analyte measured in the blood. tmpxe7fu0cj_hp_relaxed.owl 2019-01-12 13:45:59+00:00 peter owl:Class HP:0030810 biolink:NamedThing Abnormal tongue physiology Any functional anomaly of the tongue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280754 owl:Class HP:0100468 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 4th toe Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the outermost bone of the 4th toe UMLS:C4022059 human_phenotype owl:Class HP:0010190 biolink:NamedThing Patchy sclerosis of distal toe phalanx Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in outermost toe bone|Patchy sclerosis of the distal phalanges of the toes UMLS:C4021323 doelkens 2009-05-29T01:52:41Z human_phenotype owl:Class PATO:0001908 biolink:NamedThing multinucleate A nucleate quality inhering in a bearer by virtue of the bearer's having more than one nucleus. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0002505 biolink:NamedThing nucleated A nucleate quality inhering in a bearer by virtue of the bearer's having one or more nucleus. tmpxe7fu0cj_hp_relaxed.owl 2013-10-21T05:44:34Z quality owl:Class UBERON:0017163 biolink:NamedThing skin bony tubercle A bony structure embedded in skin, roughly equivalent to osteoderms. tmpxe7fu0cj_hp_relaxed.owl bony tubercle|bony tubercles http://purl.bioontology.org/ontology/provisional/3b77fb04-1e62-43af-a84b-5d5eb7388525|http://purl.bioontology.org/ontology/provisional/bdc28b9d-8fe6-4175-ae67-002f61493279 uberon owl:Class HP:0009330 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of the middle bone of the middle finger UMLS:C4024436 doelkens 2009-01-12T11:15:44Z human_phenotype owl:Class HP:0033981 biolink:NamedThing Vertebral artery tortuosity Abnormal tortuous (i.e., twisted) form of the vertebral arteries. tmpxe7fu0cj_hp_relaxed.owl Tortuous vertebral arteries 2021-07-15 11:39:56+00:00 peter owl:Class HP:0005116 biolink:NamedThing Arterial tortuosity Abnormal tortuous (i.e., twisted) form of arteries. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3279191 peter 2008-03-25T06:39:00Z owl:Class UBERON:0006673 biolink:NamedThing mandibular canal A canal within the mandible that contains the inferior alveolar nerve, inferior alveolar artery, and inferior alveolar vein. It runs obliquely downward and forward in the ramus, and then horizontally forward in the body, where it is placed under the alveoli and communicates with them by small openings. tmpxe7fu0cj_hp_relaxed.owl inferior alveolar canal EMAPA:19161|FMA:59473 http://upload.wikimedia.org/wikipedia/commons/6/6c/Gray1003.png uberon owl:Class TAO has mandibular sensory canal, which is part of the lateral line system UBERON:0005744 biolink:NamedThing bone foramen Anatomical space that is an opening in a bone, usually for passage of blood vessels or nerves. tmpxe7fu0cj_hp_relaxed.owl foramen AAO:0010438|VHOG:0001760|TAO:0001736|ZFA:0005386 http://upload.wikimedia.org/wikipedia/commons/8/81/Gray193.png uberon owl:Class in FMA and ZFA this is a conduit space, not a conduit. Note there may be some additional disambiguation required: foramen is used loosely in the sense of any opening (e.g. foramen primum). FMA appears to use cranial conduit (undefined) in the sense of any foramen of the skull (includes mental foramen, which is not in the cranium proper). UBERON:0010339 biolink:NamedThing 1st arch mandibular mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 1st arch mandibular mesenchyme. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000036 uberon owl:Class UBERON:0009584 biolink:NamedThing 1st arch mandibular mesenchyme Mesenchyme that is part of a 1st arch mandibular component. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of mandibular component|mandibular mesenchyme|mandibular component mesenchyme|mesenchymal region of mandibular component of first pharyngeal arch EMAPA:16385|EHDAA2:0000034 UBERON:0010043 uberon owl:Class UBERON:0001682 biolink:NamedThing palatine bone A paired dermal bone situated in the mid-palate[Palaeos]. tmpxe7fu0cj_hp_relaxed.owl os palatinum|palatum|palatine|dermopalatine|palate bone EMAPA:36619|NCIT:C52745|MA:0001495|FMA:52746|UMLS:C0222734|TAO:0000015 http://upload.wikimedia.org/wikipedia/commons/4/44/Gray996.png uberon owl:Class Dermal bone that forms the antero-lateral region of the palate and is located ventral to the autopalatine. The dermopalatine is bilaterally paired and usually bears teeth.[TAO] In ostariophysans, the dermopalatine is absent.[TAO]|Dermopalatine: same as palatine. The prefix is used by fish people because the palatine is a dermal replacement bone for a section of the autopalatine section of the palatoquadrate. In that context, palatine is potentially ambiguous.[Palaeos] Fusion of dermopalatine+autopalatine. GO:0061007 biolink:NamedThing hepaticobiliary system process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0003008 biolink:NamedThing system process A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. tmpxe7fu0cj_hp_relaxed.owl organ system process biological_process owl:Class HP:0033810 biolink:NamedThing Decreased circulating dihydrotestosterone concentration A reduced concentration of dihydrotestosterone in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 11:44:13+00:00 peter owl:Class GO:0044706 biolink:NamedThing multi-multicellular organism process A multicellular organism process which involves another multicellular organism of the same or different species. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/21459 jl 2012-09-19T16:06:16Z biological_process owl:Class HP:0000579 biolink:NamedThing Nasolacrimal duct obstruction Blockage of the lacrimal duct. tmpxe7fu0cj_hp_relaxed.owl Blocked tear duct|Lacrimal duct obstruction SNOMEDCT_US:416920000|SNOMEDCT_US:314022009|UMLS:C0022906|SNOMEDCT_US:231841004|UMLS:C1281931|SNOMEDCT_US:246865000|MSH:D007767 human_phenotype owl:Class HP:0011481 biolink:NamedThing Abnormal lacrimal duct morphology An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the lacrimal duct|Abnormality of the lacrimal canaliculus UMLS:C1858567 peter 2012-04-01T09:11:55Z human_phenotype owl:Class CHEBI:17578 biolink:NamedThing toluene The simplest member of the class toluenes consisting of a benzene core which bears a single methyl substituent. tmpxe7fu0cj_hp_relaxed.owl methylbenzene|phenylmethane|Toluene|Toluen|toluene|TOLUENE|Toluol 0 C7H8 InChI=1S/C7H8/c1-7-5-3-2-4-6-7/h2-6H,1H3 YXFVVABEGXRONW-UHFFFAOYSA-N 92.13842 92.06260 Cc1ccccc1 PMID:19969016|Reaxys:635760|PMID:11846266|PMID:14559343|PMID:15695158|Gmelin:2456|PMID:11991009|PMID:20347282|PMID:11314682|PMID:11182169|PMID:14605898|PMID:21802510|Beilstein:635760|PMID:20837561|PMID:19928203|PMID:21731073|PMID:19429395|PMID:18397809|PMID:12237258|PMID:21655021|PDBeChem:MBN|PMID:17725881|PMID:17145141|DrugBank:DB01900|Wikipedia:Toluene|PMID:17175136|PMID:17497535|PMID:18832024|PMID:19635754|PMID:15796064|UM-BBD_compID:c0114|PMID:21840036|PMID:15542760|PMID:14512097|PMID:12876426|PMID:19825861|PMID:12784113|PMID:15119846|PMID:16316648|PMID:21430649|CAS:108-88-3|PMID:19384711|PMID:15015825|PMID:15019953|PMID:12213539|PMID:15193425|PMID:16601996|KEGG:C01455|PMID:12062755|PMID:19261054|PMID:15567510|PMID:16348226|PMID:19765629 CHEBI:15248|CHEBI:27022|CHEBI:9624|CHEBI:44023 chebi_ontology owl:Class CHEBI:38975 biolink:NamedThing methylbenzene Any alkylbenzene that is benzene substituted with one or more methyl groups. tmpxe7fu0cj_hp_relaxed.owl methylbenzenes chebi_ontology owl:Class HP:0025023 biolink:NamedThing Rectal atresia A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum. tmpxe7fu0cj_hp_relaxed.owl Atresia of the rectum 2016-08-26 11:13:58+00:00 HPO:probinson owl:Class HP:0002034 biolink:NamedThing Abnormal rectum morphology An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. tmpxe7fu0cj_hp_relaxed.owl Anomaly of the rectum|Abnormality of the rectum UMLS:C0266210|SNOMEDCT_US:86993003 owl:Class GO:0051970 biolink:NamedThing negative regulation of transmission of nerve impulse Any process that stops, prevents, or reduces the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. tmpxe7fu0cj_hp_relaxed.owl downregulation of transmission of nerve impulse|down-regulation of transmission of nerve impulse|negative regulation of conduction of nerve impulse|down regulation of transmission of nerve impulse|inhibition of transmission of nerve impulse biological_process owl:Class HP:0007403 biolink:NamedThing Hypertrophy of skin of soles tmpxe7fu0cj_hp_relaxed.owl Thick skin of soles UMLS:C1867617 human_phenotype owl:Class HP:0100872 biolink:NamedThing Abnormality of the plantar skin of foot An abnormality of the plantar part of foot, that is of the soles of the feet. tmpxe7fu0cj_hp_relaxed.owl Minor feet anomalies UMLS:C4020946 doelkens 2011-11-30T11:23:05Z HP:0010613 human_phenotype owl:Class GO:0042098 biolink:NamedThing T cell proliferation The expansion of a T cell population by cell division. Follows T cell activation. tmpxe7fu0cj_hp_relaxed.owl T lymphocyte proliferation|T-lymphocyte proliferation|T-cell proliferation GO:0042111 biological_process owl:Class GO:0042110 biolink:NamedThing T cell activation The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. tmpxe7fu0cj_hp_relaxed.owl T lymphocyte activation|T-lymphocyte activation|T-cell activation biological_process owl:Class UBERON:0012423 biolink:NamedThing layer of microvilli A layer of microvilli, Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments[GO,modified]. tmpxe7fu0cj_hp_relaxed.owl microvillus|microvilli UMLS:C0026049|MESH:D008871|FMA:67296|NCIT:C33112 uberon owl:Class increases the surface area of a cell lining whilst minimizing increase in volume|a wide variety of physiological and cellular functions including absorption, secretion, cellular adhesion, and mechanotransduction FMA class represents an individual microvillus. UBERON:0005162 biolink:NamedThing multi cell part structure A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part. tmpxe7fu0cj_hp_relaxed.owl multi-cell-component structure|multi-cell-part structure|cell part cluster AAO:0011000|FMA:83115|FBbt:00007060|CARO:0001000 uberon owl:Class we go with the FMA classification rather than the CARO one. FMA def: 'Anatomical cluster which has as direct parts cell parts from two or more cells.' UBERON:0035649 biolink:NamedThing nerve of penis Any nerve that innervates the penis. tmpxe7fu0cj_hp_relaxed.owl penis nerve|penile nerve EMAPA:35057 uberon owl:Class OBO:CARO_0001001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0006174 biolink:NamedThing Metacarpal diaphyseal endosteal sclerosis Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1840419 human_phenotype owl:Class HP:0005916 biolink:NamedThing Abnormal metacarpal morphology Irregularly shaped metacarpal bones of varying degree. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of metacarpal bones|Abnormal shape of long bones of hand UMLS:C4021615 peter 2008-03-27T02:17:00Z HP:0010556 human_phenotype owl:Class CHEBI:33567 biolink:NamedThing catecholamine 4-(2-Aminoethyl)pyrocatechol [4-(2-aminoethyl)benzene-1,2-diol] and derivatives formed by substitution. tmpxe7fu0cj_hp_relaxed.owl catecholamines|Catecholamine 0 C8H9NO2R2 151.163 151.06333 KEGG:C02012 CHEBI:23056|CHEBI:3468 chebi_ontology owl:Class CHEBI:64365 biolink:NamedThing aralkylamino compound An organic amino compound in which an aminoalkyl group is linked to an arene. tmpxe7fu0cj_hp_relaxed.owl aralkylamino compounds chebi_ontology owl:Class UBERON:0003520 biolink:NamedThing pelvis blood vessel A blood vessel that is part of a pelvis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of pelvis MA:0000531|EMAPA:37244 uberon owl:Class UBERON:0003835 biolink:NamedThing abdominal segment blood vessel A blood vessel that is part of an abdominal segment of trunk [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl abdominal segment of trunk blood vessel|blood vessel of abdominal segment of trunk MA:0000524|EMAPA:37057 uberon owl:Class GO:0045917 biolink:NamedThing positive regulation of complement activation Any process that activates or increases the frequency, rate or extent of complement activation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of complement activation|activation of complement activation|up regulation of complement activation|stimulation of complement activation|upregulation of complement activation|positive regulation of complement cascade biological_process owl:Class CHEBI:75325 biolink:NamedThing cathartic Any substance that accelerates defecation. Compare with laxatives, which are substances that ease defecation (usually by softening faeces). A substance can be both a laxative and a cathartic. tmpxe7fu0cj_hp_relaxed.owl cathartics Wikipedia:Cathartic chebi_ontology owl:Class CHEBI:52208 biolink:NamedThing biophysical role tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class UBERON:0003519 biolink:NamedThing thoracic cavity blood vessel A blood vessel that is part of a thoracic cavity [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of pectoral cavity|blood vessel of cavity of thorax|blood vessel of cavity of chest|cavity of thorax blood vessel|blood vessel of thoracic cavity|cavity of chest blood vessel|blood vessel of chest cavity|chest cavity blood vessel|pectoral cavity blood vessel EMAPA:37240|MA:0000554 uberon owl:Class GO:0043931 biolink:NamedThing ossification involved in bone maturation The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in the progression of the skeleton from its formation to its mature state. tmpxe7fu0cj_hp_relaxed.owl ossification involved in bone modeling|ossification involved in skeletal development biological_process owl:Class HP:0012330 biolink:NamedThing Pyelonephritis An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0034186|MSH:D011704|SNOMEDCT_US:45816000 Pyelonephritis may be unilateral or bilateral and is often characterized by abdominal pain, fever, nausea, and vomiting. peter 2013-09-13T07:37:08Z human_phenotype owl:Class HP:0000123 biolink:NamedThing Nephritis The presence of inflammation affecting the kidney. tmpxe7fu0cj_hp_relaxed.owl Kidney inflammation UMLS:C0027697|MSH:D009393|SNOMEDCT_US:52845002 HP:0008634 human_phenotype owl:Class UBERON:0003471 biolink:NamedThing artery of lower lip The inferior labial artery (inferior labial branch of facial artery) arises near the angle of the mouth; it passes upward and forward beneath the Triangularis and, penetrating the Orbicularis oris, runs in a tortuous course along the edge of the lower lip between this muscle and the mucous membrane. It supplies the labial glands, the mucous membrane, and the muscles of the lower lip; and anastomoses with the artery of the opposite side, and with the mental branch of the inferior alveolar artery. tmpxe7fu0cj_hp_relaxed.owl ramus labialis inferior (arteria facialis)|inferior labial artery|ramus labialis inferior arteriae facialis|inferior labial branch of facial artery|arteria labialis inferior SCTID:145036002|MA:0001916|Wikipedia:Inferior_labial_artery|FMA:49567|EMAPA:37429 uberon owl:Class HP:0011379 biolink:NamedThing Dilated vestibule of the inner ear Dilatation of the vestibule of the inner ear. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023387 peter 2012-03-09T07:07:38Z human_phenotype owl:Class HP:0011376 biolink:NamedThing Morphological abnormality of the vestibule of the inner ear A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. tmpxe7fu0cj_hp_relaxed.owl Vestibular abnormality UMLS:C0542259 The vestibular system consists of five distinct components, three semicircular canals that are sensitive to angular acceleration and two otolith organs that are sensitive to linear acceleration. peter 2012-03-07T08:35:08Z human_phenotype owl:Class UBERON:0019263 biolink:NamedThing gray matter of hindbrain tmpxe7fu0cj_hp_relaxed.owl gray matter of the hindbrain DHBA:10654|FMA:268630 uberon owl:Class UBERON:0002020 biolink:NamedThing gray matter A nervous system structure composed primarily of nerve cell bodies (somas). May also include dendrites and the initial unmyelinated portion of axons. tmpxe7fu0cj_hp_relaxed.owl gray mater|grey matter of neuraxis|substantia grisea|gray matter|grey substance|neuronal grey matter|grey matter|grisea|gray matter of neuraxis FMA:67242|EHDAA2:0003136|EHDAA2_RETIRED:0004658|TAO:0002197|OpenCyc:Mx4rwDdKMpwpEbGdrcN5Y29ycA|HBA:4006|VHOG:0001768|ZFA:0001681|UMLS:C0018220|NCIT:C32695|MA:0001112|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2869|Wikipedia:Gray_matter|EMAPA:37596|AEO:0001012 Spinal:nerve.svg uberon owl:Class Multi-tissue comprised of neurons, dendrites, axon terminals, glial cells, and capillaries.[TAO] HP:0100290 biolink:NamedThing Abnormality of peripheral somatosensory evoked potentials tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022164 doelkens 2010-08-10T01:31:37Z human_phenotype owl:Class HP:0007377 biolink:NamedThing Abnormality of somatosensory evoked potentials An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex. tmpxe7fu0cj_hp_relaxed.owl Abnormality of SSEPs UMLS:C4021577 peter 2008-04-01T11:23:00Z human_phenotype owl:Class GO:0110024 biolink:NamedThing positive regulation of cardiac muscle myoblast proliferation Any process that activates or increases the frequency, rate or extent of cardiac muscle myoblast proliferation. tmpxe7fu0cj_hp_relaxed.owl kmv 2017-06-29T15:24:16Z biological_process owl:Class GO:0110022 biolink:NamedThing regulation of cardiac muscle myoblast proliferation Any process that modulates the frequency, rate or extent of cardiac muscle myoblast proliferation. tmpxe7fu0cj_hp_relaxed.owl kmv 2017-06-29T15:11:47Z biological_process owl:Class GO:0120039 biolink:NamedThing plasma membrane bounded cell projection morphogenesis The process in which the anatomical structures of a plasma membrane bounded cell projection are generated and organized. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/13298 krc 2017-04-28T23:39:37Z biological_process owl:Class CHEBI:78116 biolink:NamedThing fatty acid anion 6:0 Any saturated fatty acid anion containing 6 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl fatty acid 6:0 -1 C6H11O2 115.15034 115.07590 [O-]C([*])=O chebi_ontology owl:Class CHEBI:58953 biolink:NamedThing saturated fatty acid anion Any fatty acid anion in which there is no C-C unsaturation. tmpxe7fu0cj_hp_relaxed.owl saturated fatty acid anions chebi_ontology owl:Class HP:0410333 biolink:NamedThing Seafood allergy Hypersensitivity in form of an adverse immune reaction against seafood. tmpxe7fu0cj_hp_relaxed.owl Seafood allergy|IgE-mediated seafood allergy|Immunoglobulin E-mediated seafood allergy|Allergy to seafood owl:Class HP:0500093 biolink:NamedThing Food allergy Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods. tmpxe7fu0cj_hp_relaxed.owl Immunoglobulin E-mediated food allergy|Food allergy|IgE-mediated food allergy 2018-04-27 19:35:00+00:00 owl:Class GO:1905492 biolink:NamedThing positive regulation of branching morphogenesis of a nerve Any process that activates or increases the frequency, rate or extent of branching morphogenesis of a nerve. tmpxe7fu0cj_hp_relaxed.owl up regulation of branching morphogenesis of a nerve|up-regulation of branching morphogenesis of a nerve|upregulation of branching morphogenesis of a nerve|activation of branching morphogenesis of a nerve hbye 2016-09-23T14:11:52Z biological_process owl:Class UBERON:0000428 biolink:NamedThing prostate epithelium The prostate epithelium. tmpxe7fu0cj_hp_relaxed.owl prostatic epithelium|prostate gland epithelial tissue|epithelium of prostate gland|epithelium of prostate|prostatic gland epithelium|epithelial tissue of prostate|epithelial tissue of prostate gland|prostate gland epithelium|epithelium of prostatic gland|prostate epithelial tissue NCIT:C13103|FMA:66812|MA:0001737|UMLS:C1179826|EMAPA:35711|FMA:79643|BTO:0002397|CALOHA:TS-2065 TODO - check 2 FMA IDs UBERON:0002452 uberon owl:Class CHEBI:24867 biolink:NamedThing monoatomic ion tmpxe7fu0cj_hp_relaxed.owl monoatomic ions chebi_ontology owl:Class CHEBI:24870 biolink:NamedThing ion A molecular entity having a net electric charge. tmpxe7fu0cj_hp_relaxed.owl ion|ions|iones|Ion|Ionen chebi_ontology owl:Class HP:0010472 biolink:NamedThing Abnormal circulating porphyrin concentration An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023814 peter 2009-09-15T09:53:11Z owl:Class UBERON:0003558 biolink:NamedThing diencephalon arachnoid mater An arachnoid mater that is part of a diencephalon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl interbrain arachnoid mater|between brain arachnoid mater of neuraxis|arachnoid mater of diencephalon|arachnoid mater of neuraxis of diencephalon|arachnoid mater of neuraxis of between brain|mature diencephalon arachnoid mater of neuraxis|between brain arachnoid|diencephalon arachnoid mater of neuraxis|arachnoid of between brain|mature diencephalon arachnoid mater|arachnoid mater of neuraxis of mature diencephalon|diencephalon arachnoid|between brain arachnoid mater|mature diencephalon arachnoid|arachnoid of diencephalon|arachnoid mater of between brain|arachnoid mater of neuraxis of interbrain|interbrain arachnoid|arachnoid of mature diencephalon|arachnoid of interbrain|arachnoid mater of interbrain|interbrain arachnoid mater of neuraxis|arachnoid mater of mature diencephalon EMAPA:17765|VHOG:0000231|MA:0000827 uberon owl:Class Arachnoid mater that is part of the diencephalon. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] UBERON:0002362 biolink:NamedThing arachnoid mater A think avascular meningeal layer, between the pia mater and the dural mater. It is separated from the pia mater by the subarachnoid space. tmpxe7fu0cj_hp_relaxed.owl arachnoid|arachnoid mater of neuraxis|arachnoidea mater|arachnoid membrane EMAPA:32659|UMLS:C1510935|NCIT:C32136|BTO:0001636|OpenCyc:Mx4rve5HlJwpEbGdrcN5Y29ycA|EV:0100314|CALOHA:TS-0052|MESH:D001099|NLXANAT:090208|FMA:9591|MA:0001114|GAID:688 http://upload.wikimedia.org/wikipedia/commons/a/a0/Gray767.png uberon owl:Class GO:0090087 biolink:NamedThing regulation of peptide transport Any process that modulates the frequency, rate or extent of the directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl tb 2009-10-23T11:21:38Z biological_process owl:Class UBERON:0013767 biolink:NamedThing frontal process of maxilla A plate of bone from the maxilla that that projects upward, medialward, and backward, by the side of the nose, forming part of its lateral boundary[WP,modified]. tmpxe7fu0cj_hp_relaxed.owl frontal process of the maxilla|frontal appendage of maxilla|processus frontalis maxillae|processus frontalis (maxilla)|nasal process of maxilla FMA:52894 uberon owl:Class UBERON:4100000 biolink:NamedThing skeletal element projection Anatomical projection that is composed of bone or cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0002506 biolink:NamedThing Diffuse cerebral atrophy Diffuse unlocalised atrophy affecting the cerebrum. tmpxe7fu0cj_hp_relaxed.owl Cerebral atrophy, diffuse UMLS:C0598275 HP:0006954 human_phenotype owl:Class HP:0002059 biolink:NamedThing Cerebral atrophy Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. tmpxe7fu0cj_hp_relaxed.owl Supratentorial atrophy|Degeneration of cerebrum UMLS:C0154671|UMLS:C4020860|SNOMEDCT_US:278849000|UMLS:C0235946|SNOMEDCT_US:52522001|SNOMEDCT_US:418143002 Atrophy may be progressive over time. HP:0002422|HP:0006890 human_phenotype owl:Class GO:1900143 biolink:NamedThing positive regulation of oligodendrocyte apoptotic process Any process that activates or increases the frequency, rate or extent of oligodendrocyte apoptotic process. tmpxe7fu0cj_hp_relaxed.owl activation of oligodendrocyte apoptosis|up-regulation of oligodendrocyte apoptotic process|up-regulation of oligodendrocyte apoptosis|activation of oligodendrocyte apoptotic process|positive regulation of oligodendrocyte apoptosis|up regulation of oligodendrocyte apoptosis|upregulation of oligodendrocyte apoptosis|upregulation of oligodendrocyte apoptotic process|up regulation of oligodendrocyte apoptotic process yaf 2012-03-06T10:22:54Z biological_process owl:Class HP:0009420 biolink:NamedThing Triangular epiphyses of the 3rd finger A triangular appearance of the epiphyses of the 3rd finger of the hand. tmpxe7fu0cj_hp_relaxed.owl Delta-shaped epiphyses of the 3rd finger|Triangular end part of middle finger bone UMLS:C4021479 doelkens 2009-01-14T02:01:59Z human_phenotype owl:Class HP:0010238 biolink:NamedThing Triangular epiphyses of the phalanges of the hand A triangular appearance of the epiphyses of the phalanges of the fingers of the hand. tmpxe7fu0cj_hp_relaxed.owl Triangular end part of finger bones|Triangular epiphyses of the fingers|Delta-shaped epiphyses of the fingers UMLS:C4021303 doelkens 2009-07-06T03:31:52Z HP:0009369 human_phenotype owl:Class UBERON:0004425 biolink:NamedThing proximal epiphysis of fourth metacarpal bone A proximal epiphysis that is part of a metacarpal bone of digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal epiphysis of metacarpal 4|proximal end of fourth metacarpal bone|base of fourth metacarpal bone|fourth metacarpal bone base FMA:42797 uberon owl:Class HP:0410377 biolink:NamedThing Decreased proportion of naive CD8 T cells An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Reduced proportion of naive CD8 T cells|Reduced proportion of naive thymus-derived CD8-positive, alpha-beta T cells owl:Class HP:0031397 biolink:NamedThing Decreased proportion of naive T cells An abnormally decreased proportion of naive T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Reduced proportion of naive T cells|Decreased proportion of naive thymus-derived, alpha-beta T cells 2017-09-03 12:53:09+00:00 peter owl:Class GO:0048806 biolink:NamedThing genitalia development The process whose specific outcome is the progression of the genitalia over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl genital development biological_process owl:Class UBERON:0004493 biolink:NamedThing cardiac muscle tissue of myocardium A portion of cardiac muscle tissue that is part of a myocardium [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:261726|EMAPA:32688|MA:0002441 Note placement of MA class based on parthood relationship uberon owl:Class UBERON:0001133 biolink:NamedThing cardiac muscle tissue Muscle tissue composed of cardiac muscle cells, forming the muscles of the heart[ZFA,modified]. tmpxe7fu0cj_hp_relaxed.owl textus muscularis of heart muscle|heart myocardium muscle tissue|textus muscularis of myocardium|textus muscularis of heart myocardium|cardiac muscle|cardiac muscle textus muscularis|textus muscularis of cardiac muscle|muscle of heart muscle tissue|muscle tissue of heart myocardium|muscle tissue of heart muscle|heart muscle muscle tissue|heart myocardium textus muscularis|muscle of heart textus muscularis|heart muscle textus muscularis|textus muscularis of muscle of heart|myocardium textus muscularis|myocardium muscle tissue|muscle tissue of muscle of heart|muscle tissue of myocardium|cardiac muscle muscle tissue|cardiac musculature|muscle tissue of cardiac muscle Wikipedia:Cardiac_muscle|EMAPA:32688|ncithesaurus:Heart_Muscle|TAO:0005280|BILA:0000134|AAO:0010245|BTO:0000199|AEO:0000142|FMA:14068|CALOHA:TS-0440|galen:CardiacMuscleTissue|galen:CardiacMuscle|ZFA:0005280|EHDAA2:0003142 check relationship with myocardium. part_of in MA - but we also have a more specific class 'cardiac muscle tissue of myocardium'. Check ncit UBERON:0007096 uberon owl:Class GO:0002819 biolink:NamedThing regulation of adaptive immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100527 biolink:NamedThing Neoplasia of the pleura tmpxe7fu0cj_hp_relaxed.owl NCIT:C3262|UMLS:C4022033 doelkens 2010-12-20T11:47:33Z human_phenotype owl:Class HP:0100606 biolink:NamedThing Neoplasm of the respiratory system A tumor (abnormal growth of tissue) of the respiratory system. tmpxe7fu0cj_hp_relaxed.owl Respiratory system tumor|Respiratory system tumour SNOMEDCT_US:448708002|SNOMEDCT_US:126667002|NCIT:C3262|MSH:D012142|UMLS:C0035244 doelkens 2010-12-27T06:08:41Z human_phenotype owl:Class UBERON:0004796 biolink:NamedThing prostate gland secretion A bodily secretion that is produced by the prostate gland. tmpxe7fu0cj_hp_relaxed.owl prostate fluid|secretion of prostate|prostatic fluid|prostate secretion|secretion of prostate gland EMAPA:36545|UMLS:C1709733|NCIT:C52553|FMA:66884|MA:0002525 UBERON:0010142 uberon owl:Class Prostatic secretions vary among species. They are generally composed of simple sugars and are often slightly alkaline. A secretion of the prostate this is slightly alkaline fluid, milky or white in appearance. Usually constitutes 20-30% of the volume of the semen along with spermatozoa and seminal vesicle fluid [Wikipedia:Prostate#Secretions] GO:0002776 biolink:NamedThing antimicrobial peptide secretion The regulated release of an antimicrobial peptide from a cell or a tissue. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0002790 biolink:NamedThing peptide secretion The controlled release of a peptide from a cell or a tissue. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0002073 biolink:NamedThing hair follicle A tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]. tmpxe7fu0cj_hp_relaxed.owl folliculus pili VHOG:0001268|NCIT:C13317|EFO:0002464|UMLS:C0221971|BTO:0000554|CALOHA:TS-0432|OpenCyc:Mx4rvVjOI5wpEbGdrcN5Y29ycA|EV:0100156|MA:0000154|FMA:70660|MESH:D018859|EMAPA:29741|EMAPA:18771|GAID:934 Development notes:Formation largely takes place during fetal and perinatal skin development. However, after skin wounding de novo hair follicle formation may also occur in adult mouse and rabbit skin[DOI:10.1016/j.cub.2008.12.005]. Hair:follicle-en.svg uberon owl:Class The earliest reliable record of hair is found in a fossil of the Paleocene period, in which the structure of hair cuticles is preserved. Its appearance suggests that the complicated structure of the hair follicle, closely similar to that of present-day mammals, had already appeared at this time.[well established][VHOG] UBERON:0036150 biolink:NamedThing skin appendage follicle An organ subunit in the skin that gives rise to cutaneous appendage. tmpxe7fu0cj_hp_relaxed.owl skin follicle|cutaneous appendage follicle|follicle uberon owl:Class GO:0032268 biolink:NamedThing regulation of cellular protein metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. tmpxe7fu0cj_hp_relaxed.owl regulation of cellular protein metabolism biological_process owl:Class GO:0031323 biolink:NamedThing regulation of cellular metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. tmpxe7fu0cj_hp_relaxed.owl regulation of cellular metabolism biological_process owl:Class UBERON:0001172 biolink:NamedThing hepatic acinus The functional unit of the liver, consisting of a mass of hepatocytes from adjacent liver lobules aligned around the hepatic arterioles and portal venules just as they anastomose into sinusoids. tmpxe7fu0cj_hp_relaxed.owl portal acinus|liver acinus EMAPA:35497|UMLS:C0227519|MA:0002496|NCIT:C32992|FMA:14654 uberon owl:Class UBERON:0011858 biolink:NamedThing acinus of exocrine gland An acinus that is part of a exocrine gland. tmpxe7fu0cj_hp_relaxed.owl exocrine gland acinus uberon owl:Class CHEBI:41941 biolink:NamedThing (3,4-dihydroxyphenyl)acetic acid A dihydroxyphenylacetic acid having the two hydroxy substituents located at the 3- and 4-positions. It is a metabolite of dopamine. tmpxe7fu0cj_hp_relaxed.owl homoprotocatechuic acid|dopacetic acid|2-(3,4-DIHYDROXYPHENYL)ACETIC ACID|(3,4-dihydroxyphenyl)acetic acid|3,4-Dihydroxyphenyl acetic acid|3,4-dihydroxyphenylacetic acid|3,4-Dihydroxyphenylacetic acid 0 C8H8O4 InChI=1S/C8H8O4/c9-6-2-1-5(3-7(6)10)4-8(11)12/h1-3,9-10H,4H2,(H,11,12) CFFZDZCDUFSOFZ-UHFFFAOYSA-N 168.14672 168.04226 OC(=O)Cc1ccc(O)c(O)c1 Beilstein:2211017|PMID:19191673|CAS:102-32-9|Reaxys:2211017|PMID:4420192|DrugBank:DB01702|Wikipedia:DOPAC|KEGG:C01161|PMID:15212971|PMID:11868042|PDBeChem:DHY|HMDB:HMDB0001336|PMID:11251641|Gmelin:874810|PMID:15862791|PMID:18706927|PMID:11681538|PMID:22770225 CHEBI:1386|CHEBI:41936 chebi_ontology owl:Class GO:0043525 biolink:NamedThing positive regulation of neuron apoptotic process Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptotic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of programmed cell death, neurons|activation of neuron apoptosis|stimulation of neuron apoptosis|up regulation of neuron apoptosis|positive regulation of neuron apoptosis|up-regulation of neuron apoptosis|upregulation of neuron apoptosis biological_process owl:Class GO:0043065 biolink:NamedThing positive regulation of apoptotic process Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. tmpxe7fu0cj_hp_relaxed.owl stimulation of apoptosis|upregulation of apoptosis|positive regulation of apoptosis|pro-apoptosis|activation of apoptosis|up-regulation of apoptosis|up regulation of apoptosis This term should only be used when it is not possible to determine which phase or subtype of the apoptotic process is positively regulated by a gene product. Whenever detailed information is available, the more granular children terms should be used. biological_process owl:Class GO:0060431 biolink:NamedThing primary lung bud formation The morphogenetic process in which the foregut region specified to become the lung forms the initial left and right buds. tmpxe7fu0cj_hp_relaxed.owl lung formation biological_process owl:Class GO:0048646 biolink:NamedThing anatomical structure formation involved in morphogenesis The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. tmpxe7fu0cj_hp_relaxed.owl formation of an anatomical structure involved in morphogenesis Note that, for example, the formation of a pseudopod in an amoeba would not be considered formation involved in morphogenesis because it would not be thought of as the formation of an anatomical structure that was part of the shaping of the amoeba during its development. The formation of an axon from a neuron would be considered the formation of an anatomical structure involved in morphogenesis because it contributes to the creation of the form of the neuron in a developmental sense. biological_process owl:Class HP:0011283 biolink:NamedThing Abnormal metencephalon morphology An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the metencephalon UMLS:C4023432 peter 2012-01-01T01:24:14Z owl:Class HP:0011282 biolink:NamedThing Abnormality of hindbrain morphology An abnormality of the hindbrain, also known as the rhombencephalon. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of hindbrain|Abnormality of the hindbrain UMLS:C4021170 The hindbrain consists of two main structures: The pons and the cerebellum. peter 2012-01-01T01:22:36Z human_phenotype owl:Class HP:0003940 biolink:NamedThing Osteoarthritis of the elbow tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:239866002|UMLS:C0409954 human_phenotype owl:Class HP:0002758 biolink:NamedThing Osteoarthritis Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. tmpxe7fu0cj_hp_relaxed.owl Degenerative joint disease MSH:D010003|SNOMEDCT_US:225655006|SNOMEDCT_US:396275006|UMLS:C0029408 HP:0001379|HP:0005762|HP:0002824 human_phenotype owl:Class GO:0031330 biolink:NamedThing negative regulation of cellular catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl downregulation of cellular catabolic process|negative regulation of cellular degradation|negative regulation of cellular catabolism|down-regulation of cellular catabolic process|down regulation of cellular catabolic process|negative regulation of cellular breakdown|inhibition of cellular catabolic process biological_process owl:Class HP:0009255 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 4th finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the outermost bone of the ring finger UMLS:C4024492 doelkens 2009-01-07T12:07:34Z human_phenotype owl:Class HP:0010251 biolink:NamedThing Irregular epiphyses of the distal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the outermost hand bones UMLS:C4023948 doelkens 2009-07-06T04:23:06Z human_phenotype owl:Class GO:1901532 biolink:NamedThing regulation of hematopoietic progenitor cell differentiation Any process that modulates the frequency, rate or extent of hematopoietic progenitor cell differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of hemopoietic progenitor cell differentiation|regulation of haemopoietic progenitor cell differentiation|regulation of haematopoietic progenitor cell differentiation vk 2012-10-24T11:23:01Z biological_process owl:Class GO:0045595 biolink:NamedThing regulation of cell differentiation Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0080135 biolink:NamedThing regulation of cellular response to stress Any process that modulates the frequency, rate or extent of a cellular response to stress. Cellular response to stress is a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpxe7fu0cj_hp_relaxed.owl dhl 2009-05-06T05:02:52Z biological_process owl:Class GO:0061052 biolink:NamedThing negative regulation of cell growth involved in cardiac muscle cell development Any process that decreases the rate, frequency, or extent of the growth of a cardiac muscle cell, where growth contributes to the progression of the cell over time from its initial formation to its mature state. tmpxe7fu0cj_hp_relaxed.owl dph 2010-02-25T01:11:30Z biological_process owl:Class GO:0051154 biolink:NamedThing negative regulation of striated muscle cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl inhibition of striated muscle cell differentiation|downregulation of striated muscle cell differentiation|down-regulation of striated muscle cell differentiation|down regulation of striated muscle cell differentiation biological_process owl:Class GO:0034392 biolink:NamedThing negative regulation of smooth muscle cell apoptotic process Any process that stops, prevents, or reduces the frequency, rate, or extent of smooth muscle cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl down regulation of smooth muscle cell apoptosis|down-regulation of smooth muscle cell apoptosis|negative regulation of smooth muscle cell apoptosis|negative regulation of SMC apoptosis|inhibition of smooth muscle cell apoptosis|downregulation of smooth muscle cell apoptosis biological_process owl:Class GO:0034391 biolink:NamedThing regulation of smooth muscle cell apoptotic process Any process that modulates the frequency, rate, or extent of smooth muscle cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of smooth muscle cell apoptosis|regulation of SMC apoptosis biological_process owl:Class HP:0025117 biolink:NamedThing Rete ridge flattening Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance. tmpxe7fu0cj_hp_relaxed.owl Flattened rete pegs|Flattened rete ridges 2016-11-01 10:52:20+00:00 HPO:probinson owl:Class HP:0011135 biolink:NamedThing Aplasia/Hypoplasia of the sweat glands Absence or developmental hypoplasia of the sweat glands. tmpxe7fu0cj_hp_relaxed.owl Absent/small sweat glands|Absent/underdeveloped sweat glands UMLS:C4023520 peter 2011-06-19T02:01:50Z human_phenotype owl:Class HP:0000971 biolink:NamedThing Abnormal sweat gland morphology Any structural abnormality of the sweat gland. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the sweat gland|Abnormalities of sweating|Sweat gland disease UMLS:C4020881|UMLS:C0038986|SNOMEDCT_US:88232005|UMLS:C0262643|MSH:D013543 human_phenotype owl:Class HP:0009945 biolink:NamedThing Duplication of phalanx of 2nd finger This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of phalanges of the 2nd finger|Duplication of the bones of index finger UMLS:C4021369 doelkens 2009-05-15T01:00:37Z human_phenotype owl:Class HP:0009946 biolink:NamedThing Polydactyly affecting the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Extra index finger UMLS:C4024152 doelkens 2009-05-15T01:01:48Z human_phenotype owl:Class GO:0090301 biolink:NamedThing negative regulation of neural crest formation Any process that decreases the rate, frequency, or extent of neural crest formation. Neural crest formation is the formation of the specialized region of ectoderm between the neural ectoderm (neural plate) and non-neural ectoderm. The neural crest gives rise to the neural crest cells that migrate away from this region as neural tube formation procedes. tmpxe7fu0cj_hp_relaxed.owl tb 2010-03-12T04:08:26Z biological_process owl:Class GO:0010719 biolink:NamedThing negative regulation of epithelial to mesenchymal transition Any process that decreases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0001163 biolink:NamedThing Abnormality of the metacarpal bones An abnormality of the metacarpal bones. tmpxe7fu0cj_hp_relaxed.owl Anomaly of the metacarpal bones|Abnormality of the long bone of hand UMLS:C4021785 human_phenotype owl:Class HP:0001155 biolink:NamedThing Abnormality of the hand An abnormality affecting one or both hands. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the hand|Abnormal hands|Hand deformities|Hand anomalies SNOMEDCT_US:299033004|MSH:D006226|UMLS:C0018564 HP:0005858 human_phenotype owl:Class CHEBI:30794 biolink:NamedThing malonic acid An alpha,omega-dicarboxylic acid in which the two carboxy groups are separated by a single methylene group. tmpxe7fu0cj_hp_relaxed.owl propanedioic acid|MALONIC ACID|H2malo|HOOC-CH2-COOH|Propanedioic acid|Malonic acid 0 C3H4O4 InChI=1S/C3H4O4/c4-2(5)1-3(6)7/h1H2,(H,4,5)(H,6,7) OFOBLEOULBTSOW-UHFFFAOYSA-N 104.06146 104.01096 OC(=O)CC(O)=O PMID:22770225|KNApSAcK:C00001193|Wikipedia:Malonic_acid|Beilstein:1751370|Reaxys:1751370|DrugBank:DB02175|MetaCyc:MALONATE|PDBeChem:MLA|Gmelin:2550|KEGG:C00383|HMDB:HMDB0000691|LIPID_MAPS_instance:LMFA01170041|CAS:141-82-2 CHEBI:6660|CHEBI:44060|CHEBI:25132 chebi_ontology owl:Class CHEBI:28383 biolink:NamedThing alpha,omega-dicarboxylic acid tmpxe7fu0cj_hp_relaxed.owl alpha(omega)-Dicarboxylic acid|alpha,omega-Dicarboxylic acid|alpha,omega-dicarboxylic acids KEGG:C04025 CHEBI:10197|CHEBI:13780|CHEBI:22361 chebi_ontology owl:Class GO:0009101 biolink:NamedThing glycoprotein biosynthetic process The chemical reactions and pathways resulting in the formation of glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpxe7fu0cj_hp_relaxed.owl glycoprotein anabolism|glycoprotein synthesis|glycoprotein biosynthesis|glycoprotein formation biological_process owl:Class GO:1901566 biolink:NamedThing organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. tmpxe7fu0cj_hp_relaxed.owl organonitrogen compound synthesis|organonitrogen compound formation|organonitrogen compound biosynthesis|organonitrogen compound anabolism pr 2012-11-04T15:18:00Z biological_process owl:Class GO:0032331 biolink:NamedThing negative regulation of chondrocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of chondrocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of chondrocyte differentiation|downregulation of chondrocyte differentiation|inhibition of chondrocyte differentiation|down regulation of chondrocyte differentiation biological_process owl:Class GO:0032330 biolink:NamedThing regulation of chondrocyte differentiation Any process that modulates the frequency, rate or extent of chondrocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0410306 biolink:NamedThing Partial absence of specific antibody response to meningococcus vaccine A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 22:04:31+00:00 owl:Class HP:0410302 biolink:NamedThing Decreased specific antibody response to protein-conjugated polysaccharide vaccine A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 22:04:00+00:00 owl:Class HP:0020194 biolink:NamedThing IgA heavy chain paraproteinemia An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. tmpxe7fu0cj_hp_relaxed.owl Alpha heavy chain disease robinp 2019-09-05 14:01:38+00:00 owl:Class HP:0031049 biolink:NamedThing Heavy-chain paraproteinemia An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. tmpxe7fu0cj_hp_relaxed.owl 2017-05-27 14:29:55+00:00 The heavy chain diseases (HCDs) are rare B-cell malignancies that are distinguished by the production of a monoclonal immunoglobulin heavy chain (HC) without an associated light chain by the malignant B-cells. There are three types of HCD defined by the class of immunoglobulin (Ig) HC produced: IgA (alpha-HCD), IgG (gamma-HCD), and IgM (mu-HCD). peter owl:Class HP:0033247 biolink:NamedThing Pulmonary amyloidosis Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. tmpxe7fu0cj_hp_relaxed.owl 2020-11-25 14:09:03+00:00 peter owl:Class HP:0011034 biolink:NamedThing Amyloidosis The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. tmpxe7fu0cj_hp_relaxed.owl Amyloid disease SNOMEDCT_US:17602002|UMLS:C0002726|MSH:D000686 The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarisation microscopy. peter 2011-03-06T10:56:39Z owl:Class UBERON:0012071 biolink:NamedThing palate bone Any bone that is part of a palate. tmpxe7fu0cj_hp_relaxed.owl palatal bone NCIT:C33248|EMAPA:37930|UMLS:C1518857 this is distinct (but not disjoint) from palatine bone uberon owl:Class UBERON:0001474 biolink:NamedThing bone element Skeletal element that is composed of bone tissue. tmpxe7fu0cj_hp_relaxed.owl bone organ|bone|bones CALOHA:TS-0088|MIAA:0000299|MAT:0000299|XAO:0000169|GAID:92|FMA:30317|ENVO:00002039|FMA:5018|EHDAA2:0003082|EFO:0000298|NCIT:C12366|TAO:0001514|EV:0100140|Wikipedia:Bone|ZFA:0001514|BTO:0000140|AAO:0000047|SCTID:90780006|EMAPA:32782|AEO:0000082|galen:Bone|VHOG:0001190|MA:0001459|VSAO:0000057|OpenCyc:Mx4rvVkCG5wpEbGdrcN5Y29ycA|OpenCyc:Mx4rvViDlpwpEbGdrcN5Y29ycA|UMLS:C0262950 uberon owl:Class Portion of tissue which is calcified connective tissue making up the structural elements of the skeletal system.[TAO]|Skeletal element that is composed of bone tissue.[VSAO]|Also called osseous tissue, (Latin: os). Is a type of hard endoskeletal connective tissue found in many vertebrate animals. Bone is the main tissue of body organs that support body structures, protect internal organs, (in conjunction with muscles) facilitate movement; and are involved with cell formation, calcium metabolism, and mineral storage.[AAO] relationship loss: subclass specialized connective tissue (AAO:0000571)[AAO] The 'new animal phylogeny' reveals that many of the groups known to biomineralize sit among close relatives that do not, and it favours an interpretation of convergent or parallel evolution for biomineralization in animals. (...) Whether this 'biomineralization toolkit'of genes reflects a parallel co-option of a common suite of genes or the inheritance of a skeletogenic gene regulatory network from a biomineralizing common ancestor remains an open debate.[debated][VHOG] GO:1904457 biolink:NamedThing positive regulation of neuronal action potential Any process that activates or increases the frequency, rate or extent of neuronal action potential. tmpxe7fu0cj_hp_relaxed.owl up-regulation of neuronal action potential|upregulation of neuronal action potential|activation of neuronal action potential|up-regulation of generation of action potential|activation of generation of action potential|upregulation of generation of action potential|up regulation of neuronal action potential|up regulation of generation of action potential|positive regulation of generation of action potential sl 2015-07-09T18:02:46Z biological_process owl:Class GO:0051971 biolink:NamedThing positive regulation of transmission of nerve impulse Any process that activates, maintains or increases the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. tmpxe7fu0cj_hp_relaxed.owl stimulation of transmission of nerve impulse|activation of transmission of nerve impulse|up regulation of transmission of nerve impulse|positive regulation of conduction of nerve impulse|upregulation of transmission of nerve impulse|up-regulation of transmission of nerve impulse biological_process owl:Class UBERON:0004248 biolink:NamedThing pedal digit bone A bone that is part of a hindlimb digit. Typically phalanges but may include sesamoids. tmpxe7fu0cj_hp_relaxed.owl bone of digit of foot|digitus pedis bone organ|foot digit bone|digital bone of foot|digitus pedis bone|digital bone of pes|toe bone|foot digit bone organ|hind limb digit bone|digit of foot bone|toe bone organ MA:0000646|EMAPA:37309 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Skeleton-partonomy-Design-Pattern UBERON:0004416 biolink:NamedThing proximal epiphysis of metacarpal bone A proximal epiphysis that is part of a metacarpal bone [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl basis ossis metacarpi|base of metacarpal bone|metacarpal bone base|upper end of metacarpal bone|proximal end of metacarpal bone FMA:33795 uberon owl:Class HP:0034121 biolink:NamedThing Anti-GD1a antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:42:15+00:00 peter owl:Class GO:0097529 biolink:NamedThing myeloid leukocyte migration The movement of a myeloid leukocyte within or between different tissues and organs of the body. tmpxe7fu0cj_hp_relaxed.owl pr 2013-11-11T13:59:43Z biological_process owl:Class GO:0086103 biolink:NamedThing G protein-coupled receptor signaling pathway involved in heart process An G protein-coupled receptor signaling pathway which contributes to a circulatory system process carried out by the heart. tmpxe7fu0cj_hp_relaxed.owl G-protein coupled receptor signalling pathway involved in heart process|G-protein coupled receptor signaling pathway involved in heart process|GPCR signaling pathway involved in cardiac process|GPCR signaling pathway involved in heart process bf 2012-03-19T01:28:23Z biological_process owl:Class GO:0007186 biolink:NamedThing G protein-coupled receptor signaling pathway A series of molecular signals that proceeds with an activated receptor promoting the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, or for basal GPCR signaling the pathway begins with the receptor activating its G protein in the absence of an agonist, and ends with regulation of a downstream cellular process, e.g. transcription. The pathway can start from the plasma membrane, Golgi or nuclear membrane. tmpxe7fu0cj_hp_relaxed.owl G-protein coupled receptor protein signal transduction|GPCR signaling pathway|G-protein coupled receptor protein signaling pathway|G-protein-coupled receptor protein signalling pathway|GPCR signalling pathway|G-protein coupled receptor signaling pathway via GPCR dimer|dimeric G-protein coupled receptor signaling pathway|G protein coupled receptor protein signaling pathway|dimeric G-protein coupled receptor signalling pathway|G-protein coupled receptor signalling pathway|G protein coupled receptor protein signalling pathway GO:0038042 biological_process owl:Class HP:0033274 biolink:NamedThing Glomerular endotheliosis Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 16:25:15+00:00 peter owl:Class HP:0033272 biolink:NamedThing Abnormal glomerular endothelial cell morphology An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 16:20:58+00:00 peter owl:Class UBERON:0018232 biolink:NamedThing axillary sweat gland A sweat gland that is part of a axilla. tmpxe7fu0cj_hp_relaxed.owl axillary apocrine sweat gland|sweat gland of axilla uberon owl:Class UBERON:0000382 biolink:NamedThing apocrine sweat gland Apocrine sweat glands are sweat glands composed of a coiled secretory portion located at the junction of the dermis and subcutaneous fat, from which a straight portion inserts and secretes into the infundibular portion of the hair follicle. The ducts of apocrine glands open into the canals of hair follicles. The stimulus for the secretion of apocrine sweat glands is adrenaline, which is a hormone carried in the blood[WP]. tmpxe7fu0cj_hp_relaxed.owl glandula sudorifera apocrina EMAPA:37426|FMA:59155|NCIT:C32132|MESH:D001050|UMLS:C0930083|BTO:0001458 A note of confusion is the difference between apocrine secretion and apocrine sweat gland. Apocrine secretion refers to the apical loss of a cell's membrane to create cell blebs, thus creating a secretory product. Apocrine sweat gland refers to a structure, not a secretion process. Apocrine sweat glands actually use a merocrine type secretion, or that mediated by exocytosis of secretory granules. When 'apocrine gland' is used without the word sweat, it is often referring to the gland which uses merocrine secretion, and not the secretion method. The important difference in apocrine sweat gland structure is its larger lumen, compared to the more narrow lumen of the eccrine sweat gland. uberon owl:Class In humans, apocrine sweat glands are found only in certain locations of the body: the axillae (armpits), the areola of the nipples, and the genitoanal region. HP:0005639 biolink:NamedThing Hyperextensible hand joints The ability of the joints of the hand to move beyond their normal range of motion. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856877 human_phenotype owl:Class HP:0001382 biolink:NamedThing Joint hypermobility The ability of a joint to move beyond its normal range of motion. tmpxe7fu0cj_hp_relaxed.owl Increased mobility of joints|Flexible joints|Double-Jointed|Extensible joints|Hyperextensible joints|Joint hyperextensibility|Increased joint mobility SNOMEDCT_US:298181000|UMLS:C1844820 HP:0005034|HP:0001378 human_phenotype owl:Class UBERON:0002215 biolink:NamedThing synchondrosis Cartilaginous joint in which the articulating bones or cartilages are connected by hyaline cartilage. Examples: spheno-occipital synchondrosis, first sternocostal joint.[FMA]. tmpxe7fu0cj_hp_relaxed.owl primary cartilaginous joint|epiphysial cartilage|cartilago epiphysialis FMA:7497|EMAPA:35846|MA:0001501 http://upload.wikimedia.org/wikipedia/commons/7/76/Gray297.png WP considers epiphyseal plates as subtypes of this|consider adding link to hyaline cartilage uberon owl:Class UBERON:0002213 biolink:NamedThing cartilaginous joint Nonsynovial joint in which the articulating bones or cartilages are connected by cartilage. Examples: Spheno-occipital synchondrosis, first sternocostal joint, pubic symphysis.[FMA]. tmpxe7fu0cj_hp_relaxed.owl junctura cartilaginea|articulatio cartilaginea Wikipedia:Cartilaginous_joint|FMA:7496|SCTID:58442004|EMAPA:36581|TAO:0005155|MA:0000320|ZFA:0005155 uberon owl:Class HP:0012860 biolink:NamedThing Testicular fibrosis Formation of excess connective tissue in the testicle. tmpxe7fu0cj_hp_relaxed.owl Fibrotic testicle|Fibrotic testes UMLS:C4021061 hecht 2014-06-09T09:29:22Z human_phenotype owl:Class HP:0000035 biolink:NamedThing Abnormal testis morphology An anomaly of the testicle (the male gonad). tmpxe7fu0cj_hp_relaxed.owl Anomaly of the testes|Abnormality of the testis SNOMEDCT_US:55631001|UMLS:C0266423 human_phenotype owl:Class UBERON:0009578 biolink:NamedThing myelencephalon sulcus limitans A sulcus limitans of neural tube that is part of a future myelencephalon. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001945 uberon owl:Class GO:1903226 biolink:NamedThing positive regulation of endodermal cell differentiation Any process that activates or increases the frequency, rate or extent of endodermal cell differentiation. tmpxe7fu0cj_hp_relaxed.owl upregulation of endodermal cell differentiation|upregulation of endoderm cell differentiation|up regulation of endoderm cell differentiation|activation of endodermal cell differentiation|positive regulation of endoderm cell differentiation|up regulation of endodermal cell differentiation|activation of endoderm cell differentiation|up-regulation of endoderm cell differentiation|up-regulation of endodermal cell differentiation als 2014-07-29T13:22:47Z biological_process owl:Class HP:0012627 biolink:NamedThing Pseudoexfoliation Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022815 In the eye, pseudoexfoliation syndrome is characterized by the deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. PXM can be observed in vivo during slit lamp examination. It appears as 'dandruff-like' material in the anterior chamber or most characteristically on the anterior lens capsule deposited in a double concentric ring pattern. The rings are separated by a clear zone presumably created because of the movement of the iris on the anterior lens surface. The central ring is located at the area of the iris sphincter, while the peripheral ring is only visible after pupil dilation. PXM is also often observed by slit lamp examination at the pupillary margin, on the lens zonules and on the trabecular meshwork. The site of production of this material which is a complex of various glycoproteins is unclear, but PXM can potentially originate from the iris, lens epithelium, ciliary body, or the trabecular meshwork. peter 2014-01-17T10:50:32Z human_phenotype owl:Class HP:0004328 biolink:NamedThing Abnormal anterior eye segment morphology An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). tmpxe7fu0cj_hp_relaxed.owl Abnormal anterior segment morphology|Abnormality of the anterior segment of the eyeball|Abnormality of the anterior segment of the eye|Abnormality of the anterior segment of the globe UMLS:C4025355 The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. peter 2008-02-27T04:23:00Z human_phenotype owl:Class HP:0002094 biolink:NamedThing Dyspnea Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. tmpxe7fu0cj_hp_relaxed.owl Difficulty breathing|Dyspnoea|Shortness of breath|Panting|Difficult to breathe|Abnormal breathing|Breathing difficulty|Trouble breathing SNOMEDCT_US:230145002|SNOMEDCT_US:267036007|UMLS:C0013404|MSH:D004417 owl:Class HP:0002793 biolink:NamedThing Abnormal pattern of respiration An anomaly of the rhythm or depth of breathing. tmpxe7fu0cj_hp_relaxed.owl Abnormal pattern of respiration|Unusual breathing patterns|Abnormal respiratory patterns UMLS:C1837388 owl:Class CL:1001602 biolink:NamedThing cerebral cortex endothelial cell Endothelial cells forming the walls of the capillaries within the cerebral cortex. tmpxe7fu0cj_hp_relaxed.owl endothelial cells of cerebral cortex|cerebral cortex endothelial cells CALOHA:TS-2372 owl:Class UBERON:0004190 biolink:NamedThing renal glomerulus vasculature The glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the glomerulus. tmpxe7fu0cj_hp_relaxed.owl vascular network of renal glomerulus|glomerulus vasculature|vasculature of renal glomerulus|renal glomerulus vascular network|renal glomerulus vasculature uberon owl:Class UBERON:0002049 biolink:NamedThing vasculature An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face. tmpxe7fu0cj_hp_relaxed.owl vascular network BTO:0003718|TAO:0005249|ZFA:0005249|FMA:69050 http://upload.wikimedia.org/wikipedia/commons/2/29/Circulatory_System_en.svg see also: vascular system. Consider merging? uberon owl:Class vascular UBERON:0000332 biolink:NamedThing yellow bone marrow Bone marrow in which the fat cells predominate in the meshes of the reticular network. tmpxe7fu0cj_hp_relaxed.owl medulla ossium flava|yellow marrow|fat marrow SCTID:328639002|FMA:74596|SCTID:5023006|BTO:0000635 uberon owl:Class UBERON:0035471 biolink:NamedThing posterior surface of kidney tmpxe7fu0cj_hp_relaxed.owl facies posterior renis|facies posterior (Ren) NCIT:C32895|FMA:15590 uberon owl:Class UBERON:0036215 biolink:NamedThing anatomical surface region Material anatomical entity that forms the outermost boundary of an anatomical structure. tmpxe7fu0cj_hp_relaxed.owl AAO:0010270|ZFA:0005594|AEO:0000154 uberon owl:Class GO:0018958 biolink:NamedThing phenol-containing compound metabolic process The chemical reactions and pathways involving a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring. tmpxe7fu0cj_hp_relaxed.owl carbolic acid metabolism|hydroxybenzene metabolism|carbolic acid metabolic process|phenol-containing compound metabolism|hydroxybenzene metabolic process UM-BBD_pathwayID:phe Note that phenol metabolism is not included as a child of 'xenobiotic metabolism' because although it is synthesized industrially, phenol is also found naturally in animal wastes and other organic materials. It is often formed by the activity of microorganisms, which can chemically modify a variety of xenobiotic and naturally occurring phenolic compounds. biological_process owl:Class GO:0006725 biolink:NamedThing cellular aromatic compound metabolic process The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl aromatic hydrocarbon metabolism|aromatic compound metabolism|aromatic hydrocarbon metabolic process biological_process owl:Class GO:2001234 biolink:NamedThing negative regulation of apoptotic signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway. tmpxe7fu0cj_hp_relaxed.owl negative regulation of apoptotic signalling pathway pr 2011-11-24T01:20:54Z biological_process owl:Class GO:0009968 biolink:NamedThing negative regulation of signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. tmpxe7fu0cj_hp_relaxed.owl inhibition of signal transduction|negative regulation of signaling pathway|downregulation of signal transduction|down regulation of signal transduction|negative regulation of signalling pathway|down-regulation of signal transduction GO:0035467 biological_process owl:Class UBERON:0004733 biolink:NamedThing segmental subdivision of hindbrain An organ subunit that is part of a hindbrain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hindbrain segment|segment of hindbrain FMA:61998 uberon owl:Class GO:0051099 biolink:NamedThing positive regulation of binding Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. tmpxe7fu0cj_hp_relaxed.owl stimulation of binding|upregulation of binding|up regulation of binding|activation of binding|up-regulation of binding biological_process owl:Class HP:0031004 biolink:NamedThing Hemiareflexia Areflexia that is limited to one side of the body. tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 20:18:36+00:00 peter owl:Class HP:0001284 biolink:NamedThing Areflexia Absence of neurologic reflexes such as the knee-jerk reaction. tmpxe7fu0cj_hp_relaxed.owl Deep tendon reflexes absent|Absent tendon reflexes|Absent reflexes|Absent deep tendon reflexes|Loss of deep tendon reflexes UMLS:C0234146|SNOMEDCT_US:37280007|UMLS:C0241772|MSH:D012021|UMLS:C0278124|SNOMEDCT_US:349006 The strectch reflexes (also called deep tendon relfexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex). HP:0001314 human_phenotype owl:Class HP:0100804 biolink:NamedThing Ungual fibroma Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate). tmpxe7fu0cj_hp_relaxed.owl Koenen's tumor|Koenen tumor|Periungual fibroma|Koenen tumour|Koenen's tumour|Parungual fibromas SNOMEDCT_US:264561009|UMLS:C0442880 Ungual fibromas are characteristic of tuberous sclerosis. doelkens 2011-06-09T11:59:55Z human_phenotype owl:Class HP:0100803 biolink:NamedThing Abnormality of the periungual region An abnormality of the region around the nails of the fingers or toes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021966 doelkens 2011-06-09T11:59:15Z owl:Class UBERON:0009126 biolink:NamedThing nodosal placode Caudalmost epibranchial placode. Associated with 3rd branchial cleft. tmpxe7fu0cj_hp_relaxed.owl nodose placodes|epibranchial placode 3|vagal placode|vagal epibranchial placode|nodose placode|vagal X placode|vagal epibranchial placodes XAO:0004213|EHDAA2:0004208 Taxonomic equivalence to EHDAA2 class made on basis of shared development: Gives rise to inferior vagus ganglion. Note that ZFA has 4 vagal placodes uberon owl:Class UBERON:0003078 biolink:NamedThing epibranchial placode Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia. tmpxe7fu0cj_hp_relaxed.owl epibranchial placodes|ventrolateral placode AAO:0011036|FMA:293968|EFO:0003455|ZFA:0001294|TAO:0001294|VHOG:0000117|XAO:0000284 uberon owl:Class Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia. [Graham_A, The_development_and_evolution_of_the_pharyngeal_arches._J_Anat_(2001)_199:_133-141][VHOG] These (the epibranchial placodes) are focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches in all vertebrates, and they produce the neuroblasts which migrate and condense to form the distal cranial ganglia: the geniculate, petrosal and nodose ganglia. (...) The one substantial difference between the vertebrate pharyngeal arches and those of the protochordates is the presence of the epibranchial placodes but the evolution of these structures was undoubtedly driven by the endoderm.[well established][VHOG] Epibranchial placodes-derived neurons innervate internal organs to transmit information such as heart rate, blood pressure, and visceral distension from the periphery to the central nervous system (Baker and Bronner-Fraser, 2001). From rostral to caudal the epibranchial placodes comprise the geniculate, petrosal, and nodose placodes, each associated in sequence with the first, second and third branchial clefts. Each placode contributes sensory neurons to cranial nerves VII (facial nerve), IX (glossopharyngeal nerve), and X (vagal nerve), respectively in XAO this develops_from dorsolateral placode, but in NBK53175, this is a separate group CL:0002420 biolink:NamedThing immature T cell A T cell that has not completed T cell selection. tmpxe7fu0cj_hp_relaxed.owl immature T-cell BTO:0001372|CALOHA:TS-1042 tmeehan 2010-10-12T01:56:17Z cell owl:Class HP:0003886 biolink:NamedThing Wide humerus tmpxe7fu0cj_hp_relaxed.owl Wide long bone of upper arm|Broad humerus UMLS:C4021715 owl:Class HP:0005622 biolink:NamedThing Broad long bones Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. tmpxe7fu0cj_hp_relaxed.owl Widened long bones|Wide long bones|Broad long bones UMLS:C4021630 human_phenotype owl:Class HP:0030899 biolink:NamedThing Pruritis on hand Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand. tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0015716 biolink:NamedThing anal canal epithelium An epithelium that is part of a anal canal. tmpxe7fu0cj_hp_relaxed.owl epithelium of anal canal|anal canal epithelium EMAPA:18835|FMA:17511 uberon owl:Class UBERON:0001278 biolink:NamedThing epithelium of large intestine An epithelium that is part of a large intestine [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl large intestinal epithelium|large intestine epithelium|epithelial tissue of large intestine|large intestine epithelial tissue CALOHA:TS-2105|EMAPA:35466|FMA:17301|MA:0001545 uberon owl:Class HP:0030526 biolink:NamedThing Severe constriction of peripheral visual field Peripheral visual field constriction with 10-19 degrees central field preserved. tmpxe7fu0cj_hp_relaxed.owl Severe peripheral visual field loss UMLS:C4073003 owl:Class HP:0001133 biolink:NamedThing Constriction of peripheral visual field An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. tmpxe7fu0cj_hp_relaxed.owl Concentric narrowing of visual field|Visual field constriction|Limited peripheral vision|Constricted visual field|Reduced peripheral vision|Constricted visual fields SNOMEDCT_US:267628004|UMLS:C0235095|SNOMEDCT_US:1151008 HP:0007981|HP:0007887 owl:Class GO:0010764 biolink:NamedThing negative regulation of fibroblast migration Any process that decreases the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium. tmpxe7fu0cj_hp_relaxed.owl negative regulation of fibroblast cell migration biological_process owl:Class GO:0010762 biolink:NamedThing regulation of fibroblast migration Any process that modulates the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium. tmpxe7fu0cj_hp_relaxed.owl regulation of fibroblast cell migration biological_process owl:Class GO:1902876 biolink:NamedThing negative regulation of embryonic pattern specification Any process that stops, prevents or reduces the frequency, rate or extent of embryonic pattern specification. tmpxe7fu0cj_hp_relaxed.owl inhibition of ventral/lateral system|downregulation of embryonic pattern specification|negative regulation of ventral/lateral system|downregulation of ventral/lateral system|inhibition of embryonic pattern specification|down regulation of ventral/lateral system|down regulation of embryonic pattern specification|down-regulation of ventral/lateral system|down-regulation of embryonic pattern specification mr 2014-04-03T15:25:20Z biological_process owl:Class HP:0005830 biolink:NamedThing Flexion contracture of toe One or more bent (flexed) toe joints that cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl Toe contractures|Contractures involving the toes|Contractures of the toes UMLS:C1406835 HP:0008128|HP:0200027|HP:0008367|HP:0001860 human_phenotype owl:Class HP:0030044 biolink:NamedThing Flexion contracture of digit A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839864 owl:Class GO:1904456 biolink:NamedThing negative regulation of neuronal action potential Any process that stops, prevents or reduces the frequency, rate or extent of neuronal action potential. tmpxe7fu0cj_hp_relaxed.owl down-regulation of neuronal action potential|negative regulation of generation of action potential|inhibition of generation of action potential|inhibition of neuronal action potential|downregulation of neuronal action potential|downregulation of generation of action potential|down regulation of generation of action potential|down regulation of neuronal action potential|down-regulation of generation of action potential sl 2015-07-09T18:02:40Z biological_process owl:Class GO:0098908 biolink:NamedThing regulation of neuronal action potential Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in a neuron. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpxe7fu0cj_hp_relaxed.owl generation of action potential biological_process owl:Class HP:0100013 biolink:NamedThing Neoplasm of the breast A tumor (abnormal growth of tissue) of the breast. tmpxe7fu0cj_hp_relaxed.owl Neoplasia of the breast|Breast tumour|Breast tumor|Tumours of the breast MSH:D001943|SNOMEDCT_US:126926005|UMLS:C1458155|NCIT:C3262 doelkens 2010-05-14T09:45:09Z HP:0010623 human_phenotype owl:Class HP:0011793 biolink:NamedThing Neoplasm by anatomical site Neoplasm categorized according to the anatomical site of origin of the neoplasm. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023185 peter 2012-04-22T07:00:13Z owl:Class GO:0051051 biolink:NamedThing negative regulation of transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl down-regulation of transport|down regulation of transport|downregulation of transport|inhibition of transport biological_process owl:Class UBERON:0000211 biolink:NamedThing ligament Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ. tmpxe7fu0cj_hp_relaxed.owl ligament organ XAO:0004031|CALOHA:TS-2145|MESH:D008022|EMAPA:35493|galen:Ligament|VHOG:0001272|TAO:0001682|EFO:0001966|OpenCyc:Mx4rvVjqpZwpEbGdrcN5Y29ycA|NCIT:C13046|FMA:21496|MA:0000113|ZFA:0001675|FMA:30319|UMLS:C0023685 Knee:diagram.svg uberon owl:Class Nonparenchymatous organ that primarily consists of dense connective tissue aggregated into fasciculi by connective tissue. Examples: sutural ligament, radiate sternocostal ligament, ligament of liver, ovarian ligament[FMA][FMA:21496].|Portion of connective tissue that connects bone or cartilage.[TAO] Compared with their Ediacarian predecessor, Cambrian animals in general were characterized by their much stouter bodies. The stoutness of the body is likely due to the formation of ligaments and tendons, which in turn requires the crosslinking of collagen triple helices.[well established][VHOG] this groups both skeletal and non-skeletal ligaments. What is called a 'ligament' in many AOs is actually a skeletal ligament UBERON:0001049 biolink:NamedThing neural tube In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or neural canal (which strictly speaking is the center of the neural tube), the ectodermal wall of which forms the rudiment of the nervous system. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl presumptive central nervous system|neural primordium|tubus neuralis EHDAA:908|UMLS:C0231024|BTO:0001057|TAO:0001135|Wikipedia:Neural_tube|SCTID:362852000|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1365|EMAPA:16164|EMAPA:16757|FMA:293882|MIAA:0000069|AAO:0010617|VHOG:0000307|NCIT:C34226|DHBA:10154|ZFA:0001135|EHDAA2:0001254|EHDAA:2869|CALOHA:TS-2371|MAT:0000069|XAO:0003204 http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png uberon owl:Class Hollow epithelial tube on dorsal side of the embryo that develops into the central nervous system.[AAO]|The dorsal tubular structure in the vertebrate embryo that develops into the brain and spinal cord. [TFD][VHOG] (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...).[well established][VHOG] The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium HP:0011512 biolink:NamedThing Hyperpigmentation of the fundus Increased pigmentation of the fundus tmpxe7fu0cj_hp_relaxed.owl Hyperpigmented fundus|Hyperpigmented fundi UMLS:C4021146 peter 2012-04-06T10:34:11Z human_phenotype owl:Class GO:0010562 biolink:NamedThing positive regulation of phosphorus metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0035767 biolink:NamedThing intrapulmonary bronchus tmpxe7fu0cj_hp_relaxed.owl FMA:223208|NCIT:C12930 uberon owl:Class UBERON:0002185 biolink:NamedThing bronchus The upper conducting airways of the lung; these airways arise from the terminus of the trachea. tmpxe7fu0cj_hp_relaxed.owl bronchi|bronchial tissue|bronchial trunk GAID:346|BTO:0001340|XAO:0000121|FMA:7409|VHOG:0000262|MIAA:0000133|EFO:0000932|NCIT:C12683|UMLS:C0006255|MAT:0000133|EV:0100041|CALOHA:TS-1229|EMAPA:32689|MESH:D001980|MA:0000436 http://upload.wikimedia.org/wikipedia/commons/1/18/Respiratory_system_complete_numbered.svg uberon owl:Class Each of the two primary divisions of the trachea leading respectively into the right and the left lung. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] bronchial In humans, the main bronchus is histologically identical to trachea; 2ary and 3ary bronchi are not; epithelium becomes simple columnar, goblet cell number decreases, elastic fibers in lamina propria increases, distribution more uniform. Muscular layer between mucosa and submucosa appears. cartilage rings become discontinuous plates connected by fibrous connective tissue HP:0010957 biolink:NamedThing Congenital posterior urethral valve A developmental defect resulting in an obstructing membrane in the posterior male urethra. tmpxe7fu0cj_hp_relaxed.owl Posterior urethral valve|Posterior urethral valves UMLS:C0238506|SNOMEDCT_US:253900005 Congenital posterior urethral valve is a cause of bladder outlet obstruction in male newborns. It results from a failure of resorption of the caudal end of the Wolffian duct into the primitive cloaca at the site of the future verumontanum in the posterior urethra (Following normal resorption of the posterior urethral valve there remain the posterior urethral folds, also called plicae colliculi). peter 2011-01-18T10:51:22Z human_phenotype owl:Class HP:0010481 biolink:NamedThing Urethral valve The presence of an abnormal membrane obstructing the urethra. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:297163001|UMLS:C0266345 peter 2009-09-15T10:38:46Z human_phenotype owl:Class CHEBI:26469 biolink:NamedThing quaternary nitrogen compound A nitrogen molecular entity that is electronically neutral but which contains a quaternary nitrogen. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0001771 biolink:NamedThing Achilles tendon contracture A contracture of the Achilles tendon. tmpxe7fu0cj_hp_relaxed.owl Tight achilles tendon|Shortening of the achilles tendon|Contractures of the Achilles tendon|Achilles tendon contractures UMLS:C0410264|SNOMEDCT_US:203076007 HP:0006430|HP:0004711|HP:0005031 human_phenotype owl:Class HP:0005109 biolink:NamedThing Abnormality of the Achilles tendon An abnormality of the Achilles tendon. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the calcaneal tendon|Abnormality of the Achilles tendon UMLS:C4021642 peter 2008-03-25T06:21:00Z human_phenotype owl:Class GO:0051347 biolink:NamedThing positive regulation of transferase activity Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. tmpxe7fu0cj_hp_relaxed.owl activation of transferase activity|up regulation of transferase activity|stimulation of transferase activity|up-regulation of transferase activity|transferase activator|upregulation of transferase activity This term is useful for grouping, but is too general for manual annotation. Please use a child term instead. biological_process owl:Class GO:0051338 biolink:NamedThing regulation of transferase activity Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. tmpxe7fu0cj_hp_relaxed.owl transferase regulator This term is useful for grouping, but is too general for manual annotation. Please use a child term instead. biological_process owl:Class CHEBI:37578 biolink:NamedThing halide Any heteroatomic molecular entity that is a chemical compound of halogen with other chemical elements. tmpxe7fu0cj_hp_relaxed.owl halides Wikipedia:Halide chebi_ontology owl:Class CHEBI:24471 biolink:NamedThing halogen molecular entity tmpxe7fu0cj_hp_relaxed.owl halogen molecular entities|halogen compounds|halogen molecular entity chebi_ontology owl:Class HP:0100838 biolink:NamedThing Recurrent cutaneous abscess formation An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021957 doelkens 2011-06-09T06:35:07Z human_phenotype owl:Class HP:0002722 biolink:NamedThing Recurrent abscess formation An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025684 human_phenotype owl:Class CHEBI:37257 biolink:NamedThing phytanate A branched-chain saturated fatty acid anion that is the conjugate base of phytanic acid, arising from deprotonation of the carboxylic acid group. tmpxe7fu0cj_hp_relaxed.owl 3,7,11,15-tetramethylhexadecanoate|3,7,11,15-tetramethylpalmitate|phytanate anion -1 C20H39O2 InChI=1S/C20H40O2/c1-16(2)9-6-10-17(3)11-7-12-18(4)13-8-14-19(5)15-20(21)22/h16-19H,6-15H2,1-5H3,(H,21,22)/p-1 RLCKHJSFHOZMDR-UHFFFAOYSA-M 311.52246 311.29555 CC(C)CCCC(C)CCCC(C)CCCC(C)CC([O-])=O KEGG:C01607|Reaxys:3669982|PMID:5130448|Beilstein:3669982 CHEBI:14834|CHEBI:26109 chebi_ontology owl:Class CHEBI:58956 biolink:NamedThing branched-chain saturated fatty acid anion Any saturated fatty acid anion with a carbon side-chain or isopropyl termination. tmpxe7fu0cj_hp_relaxed.owl branched-chain saturated fatty acid anions chebi_ontology owl:Class HP:0000525 biolink:NamedThing Abnormality iris morphology An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the iris UMLS:C4025845 human_phenotype owl:Class UBERON:0001918 biolink:NamedThing endothelium of venule An endothelium that is part of a venule [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl venule endothelium UMLS:C1179026|NCIT:C49319|EMAPA:36290|MA:0000716|FMA:62117 uberon owl:Class UBERON:0004701 biolink:NamedThing venous system endothelium An endothelium that is part of a venous system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1710626|EMAPA:35907|MA:0000714|NCIT:C49320 uberon owl:Class HP:0002779 biolink:NamedThing Tracheomalacia tmpxe7fu0cj_hp_relaxed.owl Floppy windpipe MSH:D055090|SNOMEDCT_US:95434006|UMLS:C0948187 human_phenotype owl:Class UBERON:0005025 biolink:NamedThing mucosa of uvula A mucosa that is part of a uvula [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl uvula mucosa FMA:60030 uberon owl:Class UBERON:0005024 biolink:NamedThing mucosa of soft palate A mucosa that is part of a soft palate [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucous membrane of soft palate|soft palate mucosa|organ mucosa of soft palate|soft palate mucosa of organ|soft palate organ mucosa|mucosa of organ of soft palate|soft palate mucous membrane FMA:59784 uberon owl:Class HP:0100428 biolink:NamedThing Broad proximal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Wide innermost bone of 3rd toe UMLS:C4022099 human_phenotype owl:Class HP:0010370 biolink:NamedThing Abnormal morphology of the proximal phalanx of the 3rd toe An anomaly of the proximal phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the innermost bone of 3rd toe UMLS:C4023876 doelkens 2009-07-16T11:51:17Z owl:Class CL:1001576 biolink:NamedThing oral mucosa squamous cell Squamous cell of oral epithelium. tmpxe7fu0cj_hp_relaxed.owl oral cavity mucosa squamous epithelial cell|oral mucosa squamous epithelial cell|oral cavity mucosa squamous cell|oral mucosa squamous epithelial cells CALOHA:TS-1252 owl:Class CL:0002251 biolink:NamedThing epithelial cell of alimentary canal An epithelial cell of the musculomembranous digestive tube extending from the mouth to the anus. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2010-09-08T09:26:53Z cell owl:Class GO:0110111 biolink:NamedThing negative regulation of animal organ morphogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of animal organ morphogenesis. tmpxe7fu0cj_hp_relaxed.owl kmv 2018-07-05T14:25:21Z biological_process owl:Class GO:0051241 biolink:NamedThing negative regulation of multicellular organismal process Any process that stops, prevents, or reduces the frequency, rate or extent of an organismal process, the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. tmpxe7fu0cj_hp_relaxed.owl down-regulation of multicellular organismal process|inhibition of multicellular organismal process|downregulation of multicellular organismal process|down regulation of multicellular organismal process biological_process owl:Class HP:0100916 biolink:NamedThing Sclerosis of middle finger phalanx An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in middle finger bone of hand|Sclerosis of the middle phalanges of the hand UMLS:C4020939 human_phenotype owl:Class HP:0009833 biolink:NamedThing Abnormal middle phalanx morphology of the hand An anomaly of middle phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the middle phalanges of the hand|Abnormality of the middle finger bones of the hand UMLS:C4024191 doelkens 2009-03-11T12:01:39Z human_phenotype owl:Class HP:0009013 biolink:NamedThing Congenital absence of gluteal muscles tmpxe7fu0cj_hp_relaxed.owl MSH:C535561|UMLS:C2930932 human_phenotype owl:Class HP:0001471 biolink:NamedThing Aplasia/Hypoplasia of the musculature of the pelvis tmpxe7fu0cj_hp_relaxed.owl Absent/small pelvis muscles|Absent/underdeveloped pelvis muscles UMLS:C4025766 peter 2008-04-07T10:56:00Z human_phenotype owl:Class HP:0033124 biolink:NamedThing Increased serum sorbitol concentration An increased level of sorbitol in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-09-05 13:02:12+00:00 peter owl:Class HP:0011013 biolink:NamedThing Abnormal circulating carbohydrate concentration A deviation from the normal concentration of a carbohydrate in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023599 An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them. peter 2011-02-21T09:47:27Z human_phenotype owl:Class HP:0031961 biolink:NamedThing Abnormal serum anion gap Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration. tmpxe7fu0cj_hp_relaxed.owl 2018-07-07 14:27:01+00:00 The determination of the anion gap is used in the detection and analysis of acid-base disorders, assessment of quality control in the chemical laboratory, and detection of such disorders as multiple myeloma, bromide intoxication, and lithium intoxication. The normal value can vary widely, reflecting both differences in the methods that are used to measure its constituents and substantial interindividual variability. peter owl:Class HP:0004360 biolink:NamedThing Abnormality of acid-base homeostasis An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. tmpxe7fu0cj_hp_relaxed.owl Acid base imbalance MSH:D000137|UMLS:C0001118 peter 2008-03-17T03:35:00Z human_phenotype owl:Class GO:1902809 biolink:NamedThing regulation of skeletal muscle fiber differentiation Any process that modulates the frequency, rate or extent of skeletal muscle fiber differentiation. tmpxe7fu0cj_hp_relaxed.owl mr 2014-03-26T21:18:26Z biological_process owl:Class GO:0010830 biolink:NamedThing regulation of myotube differentiation Any process that modulates the frequency, rate or extent of myotube differentiation. Myotube differentiation is the process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:50047 biolink:NamedThing organic amino compound A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. tmpxe7fu0cj_hp_relaxed.owl organic amino compounds chebi_ontology owl:Class HP:0006465 biolink:NamedThing Periosteal thickening of long tubular bones Thickening of the periosteum of long bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1834345 human_phenotype owl:Class HP:0011314 biolink:NamedThing Abnormality of long bone morphology An abnormality of size or shape of the long bones. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of long bone|Abnormality of the tubular bones UMLS:C4021165 hecht 2012-02-12T02:31:03Z HP:0100714|HP:0100713|HP:0100715 human_phenotype owl:Class UBERON:0011591 biolink:NamedThing tract of diencephalon An axon tract that is part of a diencephalon. tmpxe7fu0cj_hp_relaxed.owl diencephalon tract FMA:62447 uberon owl:Class UBERON:0001018 biolink:NamedThing axon tract A group of axons linking two or more neuropils and having a common origin, termination[FBbt]. tmpxe7fu0cj_hp_relaxed.owl neuraxis tract|axonal tract|nerve tract|tract|tract of neuraxis BIRNLEX:1649|EV:0100304|FBbt:00005100|NLX:147822|FMA:83847 WP says this is the analog of peripheral nerves in CNS. uberon owl:Class White matter structure of CNS that contains axons that arise predominantly in one central nervous system part and terminate in another. Tracts are generally named by their region or origin followed by their region of primary termination, e.g., mammillothalamic tract contains axons that arise from neurons in the mammillary bodies and terminate in the thalamus. (CUMBO) NBO:0000130 biolink:NamedThing liquid consumption "A behavior associated with the intake of liquid." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-03-31T12:40:37Z George Gkoutos behavior_ontology owl:Class NBO:0000079 biolink:NamedThing feeding behavior The act of bringing an object or substance into the body by swallowing, surrounding or absorbing it [NBO:SMAC] GO:0007631 tmpxe7fu0cj_hp_relaxed.owl feeding behaviour 2011-04-14T01:20:02Z George Gkoutos behavior_ontology owl:Class GO:0045921 biolink:NamedThing positive regulation of exocytosis Any process that activates or increases the frequency, rate or extent of exocytosis. tmpxe7fu0cj_hp_relaxed.owl up regulation of exocytosis|activation of exocytosis|up-regulation of exocytosis|stimulation of exocytosis|upregulation of exocytosis biological_process owl:Class GO:0017157 biolink:NamedThing regulation of exocytosis Any process that modulates the frequency, rate or extent of exocytosis. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0002594 biolink:NamedThing Pancreatic hypoplasia Hypoplasia of the pancreas. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic pancreas|Underdeveloped pancreas SNOMEDCT_US:68591005|UMLS:C0266267 Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size. HP:0005221 human_phenotype owl:Class HP:0100800 biolink:NamedThing Aplasia/Hypoplasia of the pancreas A congenital underdevelopment (aplasia or hypoplasia) of the pancreas. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped pancreas|Absent/small pancreas UMLS:C4021968 doelkens 2011-06-09T11:45:58Z human_phenotype owl:Class UBERON:0007826 biolink:NamedThing peritoneal mesentery Mesentery that is located in the peritoneum. tmpxe7fu0cj_hp_relaxed.owl XAO:0000138|FMA:20570|TAO:0005129|ZFA:0005129 uberon owl:Class UBERON:0002095 biolink:NamedThing mesentery Anatomical organ component composed of a double layer of serous membrane that suspends a viscus from the body wall or connects adjacent viscera and in doing so conveys blood vessels, lymphatics and nerves to and from the viscera. Examples: greater omentum, broad ligament of uterus, sigmoid mesocolon. tmpxe7fu0cj_hp_relaxed.owl mesentery (generic)|generic mesentery AAO:0011061|MESH:A01.047.025.600.451|EV:0100083|BTO:0001380|UMLS:C0025474|GAID:21|NCIT:C33103|galen:Mesentery|FMA:7144 http://upload.wikimedia.org/wikipedia/commons/1/19/Gray1038.png uberon owl:Class mesenteric in Uberon, this term is used in the generic sense, not necessarily restricted to the peritoneum, consistent with FMA. WP: 'In anatomy, the mesentery is the double layer of peritoneum that suspends the jejunum and ileum from the posterior wall of the abdomen. Its meaning, however, is frequently extended to include double layers of peritoneum connecting various components of the abdominal cavity.'. TODO - check. Consider FMA:259286 - Region of mesentery. GO:0061025 biolink:NamedThing membrane fusion The membrane organization process that joins two lipid bilayers to form a single membrane. tmpxe7fu0cj_hp_relaxed.owl cellular membrane fusion|single-organism membrane fusion Wikipedia:Lipid_bilayer_fusion jl 2010-02-08T02:48:06Z GO:0006944|GO:0044801 biological_process owl:Class UBERON:0000171 biolink:NamedThing respiration organ Organ that functions in gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. tmpxe7fu0cj_hp_relaxed.owl respiratory system organ|gas exchange organ|organ of respiratory system|respiratory organ|organ of apparatus respiratorius|breathing organ|apparatus respiratorius organ SCTID:272626006|TGMA:0001247|SPD:0000428|EMAPA:17607 uberon owl:Class UBERON:0000062 biolink:NamedThing organ Anatomical structure that performs a specific function or group of functions [WP]. tmpxe7fu0cj_hp_relaxed.owl anatomical unit|body organ|element OpenCyc:Mx4rv5XMb5wpEbGdrcN5Y29ycA|Wikipedia:Organ_(anatomy)|FMA:67498|MA:0003001|CARO:0020004|SCTID:272625005|UMLS:C0178784|WBbt:0003760|EMAPA:35949|BIRNLEX:4|NCIT:C13018|EFO:0000634|ENVO:01000162|OpenCyc:Mx4rwP3iWpwpEbGdrcN5Y29ycA uberon owl:Class Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. CARO v1 does not include a generic 'organ' class, only simple and compound organ. CARO v2 may include organ, see https://github.com/obophenotype/caro/issues/4 HP:0031684 biolink:NamedThing Renal artery atherosclerosis An atherosclerotic lesion located in the renal artery. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 18:25:00+00:00 peter owl:Class HP:0008776 biolink:NamedThing Abnormal renal artery morphology Any structural abnormality of the renal artery. tmpxe7fu0cj_hp_relaxed.owl Abnormal kidney artery|Abnormality of the renal artery UMLS:C4024624 peter 2008-04-04T06:13:00Z human_phenotype owl:Class UBERON:0012150 biolink:NamedThing skeleton of digitopodium A subdivision of the autopod skeleton consisting of both acropodial skeleon and metapodial skeleton, but excluding the mesopodial/basopodial skeleton. tmpxe7fu0cj_hp_relaxed.owl skeleton of digits|digitopodium uberon https://github.com/obophenotype/uberon/wiki/Subdivisions-of-the-autopod owl:Class some sources call this the acropodium. see https://github.com/obophenotype/uberon/wiki/Subdivisions-of-the-autopod UBERON:0010712 biolink:NamedThing limb skeleton subdivision Skeletal subdivision that is a segment of the limb skeleton. tmpxe7fu0cj_hp_relaxed.owl VSAO:0005018 note the distinction between this and skeleton of limb uberon owl:Class GO:0006837 biolink:NamedThing serotonin transport The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0006812 biolink:NamedThing cation transport The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl trivalent inorganic cation transport|di-, tri-valent inorganic cation transport GO:0015674|GO:0072512|GO:0006819 biological_process owl:Class HP:0012722 biolink:NamedThing Heart block Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. tmpxe7fu0cj_hp_relaxed.owl MSH:D006327|UMLS:C0018794|SNOMEDCT_US:233916004 peter 2014-03-23T01:32:14Z human_phenotype owl:Class HP:0031546 biolink:NamedThing Cardiac conduction abnormality Any anomaly of the progression of electrical impulses through the heart. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cardiac conduction system|Abnormality of cardiac conduction|Cardiac conduction defects|Heart conduction disorder|Cardiac conduction abnormalities 2017-09-24 22:36:44+00:00 The conduction system of the heart initiates and coordinates the electric signal that causes the rhythmic and synchronized contractions of the atria and ventricles. In higher vertebrates, this system comprises the sinuatrial (SAN) and atrioventricular nodes (AVN) and the wiring of the ventricles. The latter comprises the atrioventricular bundle (AVB), the left and right bundle branches (BBs), and the peripheral ventricular conduction system (PVCS). peter owl:Class UBERON:0011597 biolink:NamedThing bone of upper jaw Any bone that is part of the upper jaw skeleton. This includes (when present): the maxilla, the quadrate (in some species). tmpxe7fu0cj_hp_relaxed.owl upper jaw bone Do not manually classify under here - bones are automatically classified uberon owl:Class CL:0000242 biolink:NamedThing Merkel cell A modified epidermal cell located in the stratum basale. They are found mostly in areas where sensory perception is acute. Merkel cells are closely associated with an expanded terminal bulb of an afferent myelinated nerve fiber. tmpxe7fu0cj_hp_relaxed.owl Merkel's cell FMA:70548 cell owl:Class CL:0000710 biolink:NamedThing neurecto-epithelial cell Epithelial cells derived from neural plate and neural crest. tmpxe7fu0cj_hp_relaxed.owl neuroepithelial cell BTO:0004301|FMA:70557 The term "neuroepithelial cell" is used to describe both this cell type and sensory epithelial cell (CL:0000098). cell owl:Class UBERON:0001823 biolink:NamedThing nasal cartilage One of the cartilage structures in the nose that provide form and support[WP]. tmpxe7fu0cj_hp_relaxed.owl cartilage of nose UMLS:C0225415|MA:0001883|FMA:59502|EMAPA:37681|NCIT:C49593|CALOHA:TS-0655 http://upload.wikimedia.org/wikipedia/commons/e/e1/Gray852.png uberon owl:Class UBERON:0007844 biolink:NamedThing cartilage element Skeletal element that is composed of cartilage tissue and may be permanent or transient. tmpxe7fu0cj_hp_relaxed.owl chondrogenic element|cartilaginous element|cartilage|cartilage organ AAO:0011130|EMAPA:32730|FMA:55107|ZFA:0001501|XAO:0004013|VSAO:0000000|CALOHA:TS-0118 uberon owl:Class TAO still mixes tissue and element UBERON:0007143 biolink:NamedThing right internal carotid artery An internal carotid artery that branching_part_of a right common carotid artery plus branches. tmpxe7fu0cj_hp_relaxed.owl arteria carotis interna dextra SCTID:161251001|EMAPA:16330|FMA:3949 uberon owl:Class CHEBI:32796 biolink:NamedThing (R)-2-hydroxyglutaric acid The (R)-enantiomer of 2-hydroxyglutaric acid. tmpxe7fu0cj_hp_relaxed.owl (R)-2-Hydroxyglutarate|(R)-Hydroxyglutarate|(2R)-2-hydroxypentanedioic acid 0 C5H8O5 InChI=1S/C5H8O5/c6-3(5(9)10)1-2-4(7)8/h3,6H,1-2H2,(H,7,8)(H,9,10)/t3-/m1/s1 HWXBTNAVRSUOJR-GSVOUGTGSA-N 148.11402 148.03717 O[C@H](CCC(O)=O)C(O)=O KEGG:C02911|MetaCyc:R-2-HYDROXYGLUTARATE|KEGG:C01087|Beilstein:1723806|Reaxys:1723806 CHEBI:310|CHEBI:339|CHEBI:18651 chebi_ontology owl:Class CHEBI:17084 biolink:NamedThing 2-hydroxyglutaric acid A 2-hydroxydicarboxylic acid that is glutaric acid in which one hydrogen alpha- to a carboxylic acid group is substituted by a hydroxy group. tmpxe7fu0cj_hp_relaxed.owl alpha-hydroxyglutaric acid|2-hydroxypentanedioic acid|2-hydroxyglutaric acid 0 C5H8O5 InChI=1S/C5H8O5/c6-3(5(9)10)1-2-4(7)8/h3,6H,1-2H2,(H,7,8)(H,9,10) HWXBTNAVRSUOJR-UHFFFAOYSA-N 148.11402 148.03717 OC(CCC(O)=O)C(O)=O Reaxys:1723805|Wikipedia:Alpha-Hydroxyglutaric_acid|Beilstein:1723805|MetaCyc:2-HYDROXYGLUTARIC_ACID|PMID:17439666|CAS:2889-31-8|KEGG:C02630 CHEBI:1160 chebi_ontology owl:Class GO:2000528 biolink:NamedThing negative regulation of myeloid dendritic cell chemotaxis Any process that stops, prevents or reduces the frequency, rate or extent of myeloid dendritic cell chemotaxis. tmpxe7fu0cj_hp_relaxed.owl ebc 2011-03-23T12:18:39Z biological_process owl:Class GO:2000527 biolink:NamedThing regulation of myeloid dendritic cell chemotaxis Any process that modulates the frequency, rate or extent of myeloid dendritic cell chemotaxis. tmpxe7fu0cj_hp_relaxed.owl ebc 2011-03-23T12:18:32Z biological_process owl:Class UBERON:0015063 biolink:NamedThing autopod endochondral element An endochondral element that is part of a autopod region. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0010363 biolink:NamedThing endochondral element A skeletal element that has the potential to participate in endochondral ossification, and may participate in intramembranous ossification. tmpxe7fu0cj_hp_relaxed.owl endochondral replacement element ZFA:0005620|VSAO:0000139|XAO:0004017 uberon https://github.com/obophenotype/uberon/wiki/Modeling-endochondral-elements-Design-Pattern owl:Class UBERON:0003321 biolink:NamedThing mesenchyme of knee Mesenchyme that is part of a developing knee [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl knee mesenchyme VHOG:0001070|EMAPA:17495|EHDAA2:0000898|EHDAA:5163|EHDAA:6188 uberon owl:Class HP:0001983 biolink:NamedThing Reduced lymphocyte surface expression of CD43 A reduction in the expression of CD43 on the cell surface of lymphocytes. tmpxe7fu0cj_hp_relaxed.owl Cd43 defectively expressed on surface of blood cells|Reduced lymphocyte surface expression of sialophorin UMLS:C4021766 CD43 is a cell-surface sialoglycoprotein that is expressed, typically at high levels, on all leukocytes except most resting B lymphocytes. human_phenotype owl:Class HP:0031383 biolink:NamedThing Abnormal lymphocyte surface marker expression Abnormal amount of a protein that is normally present on the cell surface of lymphocytes. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 16:14:13+00:00 peter owl:Class GO:1903523 biolink:NamedThing negative regulation of blood circulation Any process that stops, prevents or reduces the frequency, rate or extent of blood circulation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of hemolymph circulation|down regulation of hemolymph circulation|inhibition of hemolymph circulation|downregulation of blood circulation|downregulation of hemolymph circulation|down regulation of blood circulation|down-regulation of blood circulation|inhibition of blood circulation|down-regulation of hemolymph circulation mr 2014-10-06T18:39:05Z biological_process owl:Class GO:1903522 biolink:NamedThing regulation of blood circulation Any process that modulates the frequency, rate or extent of blood circulation. tmpxe7fu0cj_hp_relaxed.owl regulation of hemolymph circulation mr 2014-10-06T18:38:56Z biological_process owl:Class GO:2000214 biolink:NamedThing regulation of proline metabolic process Any process that modulates the frequency, rate or extent of proline metabolic process. tmpxe7fu0cj_hp_relaxed.owl regulation of proline metabolism mah 2010-11-03T02:45:20Z biological_process owl:Class UBERON:0035809 biolink:NamedThing serous cavity tmpxe7fu0cj_hp_relaxed.owl FMA:12241|SCTID:304404008 uberon owl:Class GO:0006110 biolink:NamedThing regulation of glycolytic process Any process that modulates the frequency, rate or extent of glycolysis. tmpxe7fu0cj_hp_relaxed.owl regulation of glycolysis involved in cellular glucose homeostasis GO:0090525 biological_process owl:Class GO:0042325 biolink:NamedThing regulation of phosphorylation Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009410 biolink:NamedThing Absent epiphyses of the 3rd finger Absence of the epiphyses of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Absent end part of middle finger bone UMLS:C4024383 doelkens 2009-01-14T02:01:59Z human_phenotype owl:Class HP:0010228 biolink:NamedThing Absent epiphyses of the phalanges of the hand Absence of one or more epiphyses of the phalanges of the fingers. tmpxe7fu0cj_hp_relaxed.owl Absent end part of fingers|Absent epiphyses of the fingers UMLS:C4021310 doelkens 2009-07-06T03:31:52Z HP:0009359 human_phenotype owl:Class GO:0051547 biolink:NamedThing regulation of keratinocyte migration Any process that modulates the frequency, rate or extent of keratinocyte migration. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0010632 biolink:NamedThing regulation of epithelial cell migration Any process that modulates the frequency, rate or extent of epithelial cell migration. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0006263 biolink:NamedThing Meckel's cartilage pre-cartilage condensation tmpxe7fu0cj_hp_relaxed.owl EMAPA:17358|VHOG:0001121|EHDAA2:0001074 uberon owl:Class NC contributes in EHDAA2. editor note: TODO use EHDAA2 structure UBERON:0001300 biolink:NamedThing scrotum The external sac of skin that encloses the testes. It is an extension of the abdomen, and in placentals is located between the penis and anus. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-2341|MESH:D012611|FMA:18252|galen:Scrotum|GAID:393|NCIT:C12785|UMLS:C0036471|MA:0000409|OpenCyc:Mx4rwUC_upwpEbGdrcN5Y29ycA|BTO:0003098|EMAPA:19296 http://upload.wikimedia.org/wikipedia/commons/a/a6/Scrotum_warm_and_cold.jpg|http://upload.wikimedia.org/wikipedia/en/thumb/3/3e/HairedHumanScrotum.png/200px-HairedHumanScrotum.png uberon owl:Class scrotal In humans and some other mammals, the base of the scrotum becomes covered with pubic hair at puberty|In elephants the testes remain in the abdomen|In hedgehogs the testes remain in the inguinal canal|In marsupials, the scrotum is not homologous to the eutherian scrotum, and development is under the control of X-linked genes, not androgens|The scrotum of marsupials is not homologous with the scrotum of mammals[ISBN:113945742X]|In marsupials, the scrotum is positioned in the caudal area of the abdomen, in the same position as the pouch in females. It has been suggested that the pouch and marsupial scrotum are sexual homologs, but it is more likely they arise from different primordia in the same morphogenetic field CL:0002077 biolink:NamedThing ecto-epithelial cell An epithelial cell derived from ectoderm. tmpxe7fu0cj_hp_relaxed.owl FMA:69074 tmeehan 2010-06-29T03:38:22Z cell owl:Class CL:0000066 biolink:NamedThing epithelial cell A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina. tmpxe7fu0cj_hp_relaxed.owl epitheliocyte CARO:0000077|FBbt:00000124|CALOHA:TS-2026|BTO:0000414|FMA:66768|WBbt:0003672 cell owl:Class HP:0001913 biolink:NamedThing Granulocytopenia An abnormally reduced number of granulocytes in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0001824|MSH:D000380|SNOMEDCT_US:417672002|SNOMEDCT_US:17182001 human_phenotype owl:Class HP:0032309 biolink:NamedThing Abnormal granulocyte count Any deviation from the normal cell count per volume of granulocytes in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 10:54:57+00:00 Granulocytes belong to the innate immune system and make up the largest proportion of white blood cells. They are myeloid cells and can be classified as neutrophil granulocytes (neutrophils), eosinophils, basophils, monocytes, and mast cells. peter owl:Class GO:0055123 biolink:NamedThing digestive system development The process whose specific outcome is the progression of the digestive system over time, from its formation to the mature structure. The digestive system is the entire structure in which digestion takes place. Digestion is all of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0048731 biolink:NamedThing system development The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025532 biolink:NamedThing Positive pathergy test With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result. tmpxe7fu0cj_hp_relaxed.owl 2017-05-18 00:41:57+00:00 A positive pathergy test indicates the immune system is overreacting to a minor injury. A positive test result can be seen in Behcet disease and other conditions. HPO:probinson owl:Class UBERON:0011862 biolink:NamedThing pulmonary collagen fibril The connective tissue bundles in the extracellular matrix of pulmonary tissue that are composed of collagen, and play a role in tissue strength and elasticity. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0001144 biolink:NamedThing testicular vein A vein that carries deoxygenated blood from a single male gonad. It is the male equivalent of the ovarian vein, and is the venous counterpart of the testicular artery. It is a paired vein, with one supplying each testis. tmpxe7fu0cj_hp_relaxed.owl vena tesicularis|testicular venous tree|spermatic vein|male gonadal vein|vena testicularis dextra|vein of testicle|testicle vein|venae spermaticae|vena testicularis sinistra UMLS:C0226718|FMA:14344|NCIT:C53050|MA:0002218|OpenCyc:Mx4rv1WIHpwpEbGdrcN5Y29ycA|EMAPA:18647|MA:0002234|BTO:0002678 http://upload.wikimedia.org/wikipedia/commons/1/1b/Gray590.png TODO - check testicular vs spermatic vein (MA:0002218) uberon owl:Class In humans, the right testicular vein generally joins the inferior vena cava; the left testicular vein, unlike the right, often joins the left renal vein instead of the inferior vena cava. The veins emerge from the back of the testis, and receive tributaries from the epididymis; they unite and form a convoluted plexus, called the pampiniform plexus, which constitutes the greater mass of the spermatic cord; the vessels composing this plexus are very numerous, and ascend along the cord, in front of the ductus deferens. Below the subcutaneous inguinal ring, they unite to form three or four veins, which pass along the inguinal canal, and, entering the abdomen through the abdominal inguinal ring, coalesce to form two veins, which ascend on the Psoas major, behind the peritoneum, lying one on either side of the internal spermatic artery. These unite to form a single vein, which opens, on the right side, into the inferior vena cava (at an acute angle), on the left side into the left renal vein (at a right angle). The spermatic veins are provided with valves. The left spermatic vein passes behind the iliac colon and is thus exposed to pressure from the contents of that part of the bowel HP:0030784 biolink:NamedThing Anomic aphasia An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. tmpxe7fu0cj_hp_relaxed.owl Nominal aphasia|Amnesic aphasia|Anomia|Word-finding difficulty|Amnestic aphasia UMLS:C0003113|SNOMEDCT_US:10325006|MSH:D000849 owl:Class HP:0002381 biolink:NamedThing Aphasia An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. tmpxe7fu0cj_hp_relaxed.owl Losing words|Difficulty finding words|Loss of words MSH:D001037|UMLS:C0003537|SNOMEDCT_US:87486003 Aphasia is caused by brain injury. The most common cause is stroke, but aphasia can also be caused by other factors such as head trauma, brain tumors, or infections. owl:Class HP:5000002 biolink:NamedThing Anti-Amphiphysin antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin. tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-3387-1836 owl:Class UBERON:0017732 biolink:NamedThing raphe of scrotum A ridge of tissue that extends along the midline of the scrotum. tmpxe7fu0cj_hp_relaxed.owl scrotal raphe FMA:75130 uberon owl:Class The scrotal raphe is formed when the embryonic, urethral groove closes (week 12 in humans) GO:0045939 biolink:NamedThing negative regulation of steroid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving steroids. tmpxe7fu0cj_hp_relaxed.owl negative regulation of steroid metabolism|down-regulation of steroid metabolic process|down regulation of steroid metabolic process|downregulation of steroid metabolic process|inhibition of steroid metabolic process biological_process owl:Class GO:0019218 biolink:NamedThing regulation of steroid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving steroids. tmpxe7fu0cj_hp_relaxed.owl regulation of steroid metabolism biological_process owl:Class HP:0004002 biolink:NamedThing Flattened radial epiphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025455 human_phenotype owl:Class HP:0003071 biolink:NamedThing Flattened epiphysis Abnormal flatness (decreased height) of epiphyses. tmpxe7fu0cj_hp_relaxed.owl Flat end part of bone|Flat epiphyses UMLS:C1857527 HP:0004982|HP:0005080|HP:0005076|HP:0005051 human_phenotype owl:Class HP:0010574 biolink:NamedThing Abnormality of the epiphysis of the femoral head Any abnormality of the proximal epiphysis of the femur. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the proximal femoral epiphysis|Abnormality of the end part of the innermost thighbone UMLS:C4021252 Note that the proximal epiphysis of the femur is often referred to as the capital femoral epiphysis from the Latin word caput for head. sandra1 2009-10-21T01:28:23Z HP:0010589 human_phenotype owl:Class HP:0030561 biolink:NamedThing Best corrected visual acuity 0.8 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073034 owl:Class HP:0030534 biolink:NamedThing Abnormal best corrected visual acuity test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073008 owl:Class HP:0001442 biolink:NamedThing Somatic mosaicism The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866227 human_phenotype owl:Class HP:0001428 biolink:NamedThing Somatic mutation A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:124975008|UMLS:C0544886 This term applies to a disease whose etiology is related to an alteration in DNA that occurs after conception. Somatic mutations occur in all body tissues throughout life and are not present in the germline from which the individual developed (The Greek word soma means body.) The majority of somatic mutations have no phenotypic effect. However, occasionally they may have functional consequences that confer a selective advantage on the cell owing to preferential growth or survival. These so-called driver mutations may ultimately lead to cancer or other diseases. human_phenotype owl:Class HP:0006772 biolink:NamedThing Renal angiomyolipoma A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. tmpxe7fu0cj_hp_relaxed.owl Kidney angiomyolipoma|Angiomyolipoma SNOMEDCT_US:254921004|UMLS:C0241961|NCIT:C3734 Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements. HP:0100873 human_phenotype owl:Class HP:0008696 biolink:NamedThing Renal hamartoma A disordered proliferation of mature tissues that are native to the kidneys. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1840396 human_phenotype owl:Class HP:0010143 biolink:NamedThing Irregular epiphysis of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the outermost bone of the big toe UMLS:C4024016 doelkens 2009-05-29T01:22:47Z human_phenotype owl:Class HP:0010124 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the outermost bone of the big toe bone UMLS:C4024035 doelkens 2009-05-29T01:17:54Z human_phenotype owl:Class UBERON:0003408 biolink:NamedThing gland of digestive tract A gland that is part of a digestive tract [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl gut gland|digestive tract gland|gland of digestive tract|lower gastrointestinal tract gland|gland of lower gastrointestinal tract MA:0003202|EMAPA:18815 uberon owl:Class UBERON:0013765 biolink:NamedThing digestive system element Any of the organs or elements that are part of the digestive system. Examples: tongue, esophagus, spleen, crop, lunge feeding organ, tooth elements. tmpxe7fu0cj_hp_relaxed.owl digestive system organ|digestive organ SCTID:272627002|EMAPA:37843 uberon owl:Class UBERON:0004801 biolink:NamedThing cervix epithelium An epithelium that is part of a uterine cervix [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl cervical epithelium|cervical canal epithelium|cervical canal epithelial tissue|cervix epithelial tissue|epithelium of cervix EMAPA:29929|NCIT:C49218|MA:0001724|BTO:0000241|EFO:0001913|UMLS:C1711358|CALOHA:TS-0137 uberon owl:Class The epithelium of the cervix is varied. The ectocervix (more distal, by the vagina) is composed of nonkeratinized stratified squamous epithelium. The endocervix (more proximal, within the uterus) is composed of simple columnar epithelium HP:0010137 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the innermost bone of the big toe UMLS:C4024022 doelkens 2009-05-29T01:22:23Z human_phenotype owl:Class HP:0010123 biolink:NamedThing Triangular epiphyses of the hallux tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the big toe bone UMLS:C4024036 doelkens 2009-05-29T01:16:38Z owl:Class GO:0035563 biolink:NamedThing positive regulation of chromatin binding Any process that increases the frequency, rate or extent of chromatin binding. Chromatin binding is the selective interaction with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. tmpxe7fu0cj_hp_relaxed.owl bf 2010-05-19T10:29:41Z biological_process owl:Class GO:0032092 biolink:NamedThing positive regulation of protein binding Any process that activates or increases the frequency, rate or extent of protein binding. tmpxe7fu0cj_hp_relaxed.owl stimulation of protein binding|up regulation of protein binding|upregulation of protein binding|activation of protein binding|up-regulation of protein binding biological_process owl:Class HP:0009584 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 2nd finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Lytic defects of proximal index finger phalanx UMLS:C4021433 doelkens 2009-01-28T05:26:39Z HP:0004123 human_phenotype owl:Class HP:0009544 biolink:NamedThing Abnormality of the proximal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Abnormal innermost index finger bone|Abnormality of the proximal 2nd finger phalanx UMLS:C4021447 doelkens 2009-01-21T10:17:15Z HP:0004119 human_phenotype owl:Class HP:0010404 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped middle bone of 2nd toe|Absent/small middle bone of 2nd toe UMLS:C4023851 doelkens 2009-07-16T12:43:52Z human_phenotype owl:Class HP:0010357 biolink:NamedThing Abnormality of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the middle bone of the 2nd toe UMLS:C4023884 doelkens 2009-07-16T11:45:34Z owl:Class CHEBI:25703 biolink:NamedThing organic phosphate tmpxe7fu0cj_hp_relaxed.owl organic phosphate ester|organophosphate ester|organophosphate esters|organic phosphates|organic phosphate esters|organic phosphate Wikipedia:Organophosphate chebi_ontology owl:Class CHEBI:25710 biolink:NamedThing organophosphorus compound An organophosphorus compound is formally a compound containing at least one carbon-phosphorus bond, but the term is often extended to include esters and thioesters. tmpxe7fu0cj_hp_relaxed.owl organophosphorus compounds|organophosphorus compound Wikipedia:Organophosphorus_compound chebi_ontology owl:Class HP:0009674 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the thumb A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Triangular end part of thumb innermost long bone UMLS:C4024243 doelkens 2009-01-30T09:17:13Z human_phenotype owl:Class HP:0010267 biolink:NamedThing Triangular epiphyses of the middle phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the middle hand bones UMLS:C4023934 doelkens 2009-07-06T04:24:15Z human_phenotype owl:Class MAXO:0010210 biolink:NamedThing rectal ultrasonography The use of ultrasound to produce images of structures in the rectum. tmpxe7fu0cj_hp_relaxed.owl sonography of rectum|rectum ultrasound procedure|rectum diagnostic sonography|rectum sonography|rectum medical ultrasound|rectum ultrasound imaging procedure|rectum ultrasound examination|ultrasonography of rectum 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-2987 owl:Class GO:0003404 biolink:NamedThing optic vesicle morphogenesis The developmental process pertaining to the formation and shaping of the optic vesicle. This process begins with the specific processes that contribute to the appearance of the vesicle and ends when the vesicle has evaginated. The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup. tmpxe7fu0cj_hp_relaxed.owl dph 2009-12-21T01:54:34Z biological_process owl:Class GO:0048729 biolink:NamedThing tissue morphogenesis The process in which the anatomical structures of a tissue are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0011354 biolink:NamedThing Generalized abnormality of skin An abnormality of the skin that is not localized to any one particular region. tmpxe7fu0cj_hp_relaxed.owl Generalised abnormality of skin|Generalized abnormality of skin UMLS:C4021157 peter 2012-03-01T01:55:07Z owl:Class UBERON:0003434 biolink:NamedThing wrist nerve A nerve that is part of a wrist [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nerve of wrist|carpal region nerve|nerve of carpal region MA:0000637|EMAPA:37339 uberon owl:Class HP:0100801 biolink:NamedThing Pancreatic aplasia Aplasia of the pancreas. tmpxe7fu0cj_hp_relaxed.owl Absent pancreas UMLS:C4021967 doelkens 2011-06-09T11:46:59Z human_phenotype owl:Class HP:0005164 biolink:NamedThing Dysplastic pulmonary valve A congenital malformation of the pulmonary valve characterized by leaflet deformation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866206 human_phenotype owl:Class HP:0001641 biolink:NamedThing Abnormal pulmonary valve morphology Any structural abnormality of the pulmonary valve. tmpxe7fu0cj_hp_relaxed.owl Anomaly of the pulmonary valve|Abnormality of the pulmonary valve SNOMEDCT_US:448643005|Fyler:1602|UMLS:C3164374|Fyler:1600 human_phenotype owl:Class HP:0011923 biolink:NamedThing Decreased activity of mitochondrial complex I A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. tmpxe7fu0cj_hp_relaxed.owl Respiratory complex I deficiency UMLS:C4020739|UMLS:C2677650 peter 2012-06-08T09:02:29Z human_phenotype owl:Class HP:0008972 biolink:NamedThing Decreased activity of mitochondrial respiratory chain Decreased activity of the mitochondrial respiratory chain. tmpxe7fu0cj_hp_relaxed.owl Decreased activity of mitochondrial respiratory complexes|Decreased activities of mitochondrial-encoded respiratory chain complexes UMLS:C3276441|UMLS:C4024609|UMLS:C1835995 human_phenotype owl:Class HP:0032525 biolink:NamedThing Aggravated by acetylcholinesterase inhibitor Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon). tmpxe7fu0cj_hp_relaxed.owl 2019-05-26 11:44:24+00:00 peter owl:Class HP:0025285 biolink:NamedThing Aggravated by An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe. tmpxe7fu0cj_hp_relaxed.owl Exacerbated by 2016-12-18 15:29:42+00:00 HPO:probinson owl:Class GO:0042078 biolink:NamedThing germ-line stem cell division The self-renewing division of a germline stem cell to produce a daughter stem cell and a daughter germ cell, which will divide to form the gametes. tmpxe7fu0cj_hp_relaxed.owl germ-line stem cell renewal GO:0048131 biological_process owl:Class GO:0017145 biolink:NamedThing stem cell division The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. tmpxe7fu0cj_hp_relaxed.owl stem cell renewal biological_process owl:Class GO:0070858 biolink:NamedThing negative regulation of bile acid biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:1904252 biolink:NamedThing negative regulation of bile acid metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0004251 biolink:NamedThing hindlimb zeugopod bone A bone that is part of a lower leg [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bone organ of lower extremity zeugopod|hindlimb zeugopod bone|inferior member middle limb segment bone|zeugopod of hindlimb bone organ|bone of lower leg|zeugopod of leg bone|zeugopod of inferior member bone|bone organ of hind limb zeugopod|lower extremity zeugopod bone organ|intermediate segment of free lower limb bone organ|zeugopod of lower extremity bone organ|bone of lower extremity middle limb segment|bone of zeugopod of hind limb|bone organ of middle limb segment of hindlimb|bone organ of inferior member zeugopod|zeugopod of leg bone organ|bone of middle limb segment of inferior member|zeugopod of hind limb bone|hindlimb zeugopod bone organ|bone of inferior member zeugopod|bone organ of zeugopod of inferior member|bone of zeugopod of hindlimb|middle limb segment of lower extremity bone organ|zeugopod of hind limb bone organ|lower leg bone|bone of inferior member middle limb segment|bone organ of hind limb middle limb segment|bone organ of zeugopod of lower extremity|middle limb segment of inferior member bone|intermediate segment of free lower limb bone|bone organ of zeugopod of hindlimb|middle limb segment of hind limb bone|lower extremity middle limb segment bone organ|bone of zeugopod of leg|inferior member zeugopod bone|bone organ of middle limb segment of hind limb|bone organ of intermediate segment of free lower limb|bone organ of lower leg|bone organ of inferior member middle limb segment|bone organ of zeugopod of hind limb|bone organ of middle limb segment of inferior member|zeugopod of inferior member bone organ|bone of lower extremity zeugopod|bone of middle limb segment of lower extremity|middle limb segment of inferior member bone organ|hindlimb middle limb segment bone|bone of zeugopod of lower extremity|zeugopod of lower extremity bone|bone of intermediate segment of free lower limb|lower extremity middle limb segment bone|zeugopod of hindlimb bone|bone of zeugopod of inferior member|hindlimb middle limb segment bone organ|bone of middle limb segment of hindlimb|hind limb middle limb segment bone organ|bone of hind limb middle limb segment|inferior member middle limb segment bone organ|bone of hindlimb middle limb segment|bone organ of middle limb segment of lower extremity|middle limb segment of lower extremity bone|bone organ of zeugopod of leg|bone of hindlimb zeugopod|hind limb zeugopod bone organ|inferior member zeugopod bone organ|hind limb zeugopod bone|bone of hind limb zeugopod|bone organ of lower extremity middle limb segment|middle limb segment of hind limb bone organ|bone of middle limb segment of hind limb|bone organ of hindlimb zeugopod|middle limb segment of hindlimb bone|lower extremity zeugopod bone|hind limb middle limb segment bone|bone organ of hindlimb middle limb segment|middle limb segment of hindlimb bone organ MA:0000676|EMAPA:35519 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Skeleton-partonomy-Design-Pattern UBERON:0005893 biolink:NamedThing leg bone A bone that is part of the region of the hindlimb that includes the zeugopod and stylopod. Examples: patella, femur, tibia. Counter-examples: any pes phalanx. tmpxe7fu0cj_hp_relaxed.owl MESH:A02.835.232.500|MA:0000670|EMAPA:37304 uberon owl:Class GO:0002705 biolink:NamedThing positive regulation of leukocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of leukocyte mediated immunity. tmpxe7fu0cj_hp_relaxed.owl up regulation of leukocyte mediated immunity|positive regulation of leucocyte mediated immunity|activation of leukocyte mediated immunity|upregulation of leukocyte mediated immunity|positive regulation of immune cell mediated immunity|stimulation of leukocyte mediated immunity|up-regulation of leukocyte mediated immunity biological_process owl:Class GO:1905457 biolink:NamedThing negative regulation of lymphoid progenitor cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of lymphoid progenitor cell differentiation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of lymphoid progenitor cell differentiation|downregulation of lymphoid progenitor cell differentiation|inhibition of lymphoid progenitor cell differentiation|down regulation of lymphoid progenitor cell differentiation rz 2016-09-16T12:32:48Z biological_process owl:Class HP:0002645 biolink:NamedThing Wormian bones The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. tmpxe7fu0cj_hp_relaxed.owl Intrasutural bones|Islands of bone within cranial sutures|Extra bones within cranial sutures|Intra sutural bones SNOMEDCT_US:113194005|UMLS:C0222716 Irregular, solated bones in the lambdoidal suture or at the fontanelles. human_phenotype owl:Class HP:0011329 biolink:NamedThing Abnormality of cranial sutures Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cranial sutures|Abnormality of the cranial sutures|Abnormality of the calvarium sutures|Abnormality of the bregma sutures|Abnormality of the skull suture UMLS:C4023412 peter 2012-02-25T03:33:56Z human_phenotype owl:Class UBERON:0007023 biolink:NamedThing adult organism A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage. tmpxe7fu0cj_hp_relaxed.owl adults|adult galen:Adult|TAO:0002046|FBbt:00003004|BILA:0000078|NCIT:C17600|HAO:0000087|UMLS:C0001675 uberon owl:Class Whole organism that is fully grown or sexually mature.[TAO] UBERON:0000468 biolink:NamedThing multicellular organism Anatomical structure that is an individual member of a species and consists of more than one cell. tmpxe7fu0cj_hp_relaxed.owl Koerper|whole organism|body|animal|multi-cellular organism|organism|whole body EMAPA:25765|XAO:0003004|Wikipedia:Multi-cellular_organism|SCTID:243928005|FMA:256135|BIRNLEX:18|AAO:0010026|EV:0100016|EHDAA:1|FBbt:00000001|TGMA:0001832|NCIT:C13041|VHOG:0000671|BTO:0000042|WBbt:0007833|EHDAA2:0003103|CARO:0000012|EHDAA2:0003191|AEO:0000191|ZFA:0001094|TADS:0000001|TAO:0001094|ncithesaurus:Whole_Organism|BSA:0000038|galen:Organism|EFO:0002906|HAO:0000012|BILA:0000012 TODO - split body and mc organism? body continues after death stage uberon owl:Class organismal GO:0002408 biolink:NamedThing myeloid dendritic cell chemotaxis The movement of a myeloid dendritic cell in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0006333 biolink:NamedThing chromatin assembly or disassembly The formation or destruction of chromatin structures. tmpxe7fu0cj_hp_relaxed.owl chromatin assembly/disassembly biological_process owl:Class GO:0006325 biolink:NamedThing chromatin organization Any process that results in the specification, formation or maintenance of the physical structure of eukaryotic chromatin. tmpxe7fu0cj_hp_relaxed.owl establishment or maintenance of chromatin architecture|chromatin organisation|chromatin modification GO:0016568 biological_process owl:Class UBERON:0013647 biolink:NamedThing lateral pterygoid nerve A nerve that innervates the lateral pterygoid muscle. tmpxe7fu0cj_hp_relaxed.owl external pterygoid nerve|branch of buccal nerve to lateral pterygoid|nervus pterygoideus lateralis|nerve to lateral pterygoid FMA:53107 uberon owl:Class The nerve to the Pterygoideus externus frequently arises in conjunction with the buccinator nerve, but it may be given off separately from the anterior division of the mandibular nerve. It enters the deep surface of the muscle. GO:0071383 biolink:NamedThing cellular response to steroid hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. tmpxe7fu0cj_hp_relaxed.owl mah 2009-12-11T03:49:02Z biological_process owl:Class GO:0048545 biolink:NamedThing response to steroid hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. tmpxe7fu0cj_hp_relaxed.owl response to steroid hormone stimulus biological_process owl:Class UBERON:0008885 biolink:NamedThing right putamen A putamen that is part of a right cerebral hemisphere. tmpxe7fu0cj_hp_relaxed.owl HBA:4289|FMA:72828 uberon owl:Class UBERON:0001874 biolink:NamedThing putamen Subcortical nucleus of telencephalic , which together with the caudate nucleus, forms the striatum. The putamen lies lateral to the internal capsule and medial to the external medullary lamina, and is separated from the caudate nucleus by the fibers of the internal capsule for most of its length, except at its anterior portion. tmpxe7fu0cj_hp_relaxed.owl nucleus putamen FMA:61834|DHBA:10338|MA:0000895|EMAPA:35719|BAMS:PU|EV:0100187|UMLS:C0034169|DMBA:15857|PBA:10086|HBA:4287|NCIT:C12452|BM:Tel-Pu|CALOHA:TS-2041|VHOG:0001456|BAMS:Pu|GAID:671|BIRNLEX:809|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=230|MESH:A08.186.211.730.885.105.487.550.784 http://upload.wikimedia.org/wikipedia/commons/3/33/BrainCaudatePutamen.svg check - rodents. The caudate nucleus and putamen are separated by a clear white matter bundle in most species but not in rodents (MM) uberon owl:Class Nucleus of brain which lies ventral to the caudate nucleus and internal capsule and medial to the external capsule. The putamen and caudate nucleus together form the dorsal striatum. It is also one of the structures that comprises the basal ganglia. Through various pathways, the putamen is connected to the substantia nigra and globus pallidus. The main function of the putamen is to regulate movements and influence various types of learning. It employs dopamine to perform its functions. The putamen also plays a role in degenerative neurological disorders, such as Parkinson's disease[Wikipedia:Putamen]. All nuclei of the mammalian basal ganglia are also present in the oldest vertebrates.[well established][VHOG] UBERON:0018575 biolink:NamedThing upper first secondary molar tooth tmpxe7fu0cj_hp_relaxed.owl upper first permanent molar tooth|maxillary first secondary molar tooth FMA:55811 TODO - tooth numbering nomeculature to be aligned across species uberon owl:Class UBERON:0013619 biolink:NamedThing upper secondary molar tooth A secondary molar tooth that is part of a upper jaw region. tmpxe7fu0cj_hp_relaxed.owl upper permanent molar tooth|maxillary secondary molar tooth|upper secondary molar tooth FMA:55720 uberon owl:Class UBERON:0001457 biolink:NamedThing skin of eyelid A zone of skin that is part of a eyelid [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl zone of skin of eyelid|blepharon zone of skin|eyelid zone of skin|eyelid skin|zone of skin of blepharon UMLS:C0222088|MA:0001256|FMA:24760|EMAPA:37536|NCIT:C52718 uberon owl:Class UBERON:0000014 biolink:NamedThing zone of skin Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis. tmpxe7fu0cj_hp_relaxed.owl portion of skin|skin|skin region|region of skin|skin zone MIAA:0000284|Wikipedia:Skin|EMAPA:17525|MAT:0000284|GAID:933|FMA:86166|EHDAA:6530|OpenCyc:Mx4rvVjX3ZwpEbGdrcN5Y29ycA|MA:0000151|MESH:D012867|EHDAA2:0001844|EV:0100152|VHOG:0000860|SCTID:20795001 Note the distinction between the entire skin of the body, of which there is only 1 in an organism, and zones of skin, of which there can be many. Examples: skin of knee http://upload.wikimedia.org/wikipedia/commons/e/e8/HumanSkinDiagram.jpg|http://upload.wikimedia.org/wikipedia/commons/6/6d/Skin.svg uberon owl:Class (...) it is well-established that neural crest cells contribute to both the dermal skeleton (craniofacial bone, teeth, and the caudal fin rays of teleosts) and the integument, including craniofacial dermis and all pigment cells outside the retina (...).[well established][VHOG] we assume that mouse, HOG and GAID all mean zone of skin when they say skin. We also choose skin as an exact synonym, as it is more intuitive HP:0100340 biolink:NamedThing Fibular deviation of the 4th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022140 doelkens 2010-11-11T03:41:54Z human_phenotype owl:Class HP:0010338 biolink:NamedThing Deviation of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Displacement of the 4th toe UMLS:C4021293 doelkens 2009-07-16T11:41:21Z human_phenotype owl:Class UBERON:0011677 biolink:NamedThing trunk vertebra A vertebra in the trunk region. For tetrapods, includes lumbar and thoracic vertebrae. Excludes caudal/coccygeal vertebra, which are located posteriorly. In tetrapods this includes thoracic, lumbar and sacral vertebrae, and excludes the cervical vertebrae, which are located anteriorly. tmpxe7fu0cj_hp_relaxed.owl presacral vertebra|thoracolumbar vertebra uberon owl:Class UBERON:0018111 biolink:NamedThing muscle layer of rectum A muscle layer that is part of the rectum. tmpxe7fu0cj_hp_relaxed.owl rectal muscularis propria|muscularis externa of rectum|tunica muscularis (rectum)|muscular coat of rectum|tunica muscularis recti FMA:15035 uberon owl:Class UBERON:0011198 biolink:NamedThing muscle layer of large intestine A muscle layer that is part of a large intestine. tmpxe7fu0cj_hp_relaxed.owl tunica muscularis intestini crassi|muscular layer of large intestine|muscular coat of large intestine|muscularis externa of large intestine NCIT:C32927|FMA:14971|UMLS:C0734205 uberon owl:Class UBERON:0009695 biolink:NamedThing epithelium of laryngopharynx An epithelium that is part of a hypopharynx. tmpxe7fu0cj_hp_relaxed.owl epithelium of laryngeal pharynx|laryngopharynx epithelium FMA:62454|EHDAA2:0004575 uberon owl:Class HP:0001541 biolink:NamedThing Ascites Accumulation of fluid in the peritoneal cavity. tmpxe7fu0cj_hp_relaxed.owl Accumulation of fluid in the abdomen MSH:D001201|SNOMEDCT_US:389026000|UMLS:C0003962 Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. owl:Class HP:0001438 biolink:NamedThing Abnormal abdomen morphology A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. tmpxe7fu0cj_hp_relaxed.owl Abdomen abnormality|Abnormality of the abdomen|Abnormality of abdomen structure|Abnormality of abdomen morphology UMLS:C4020869 human_phenotype owl:Class HP:0000996 biolink:NamedThing Facial capillary hemangioma Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1858545 human_phenotype owl:Class HP:0000329 biolink:NamedThing Facial hemangioma Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face. tmpxe7fu0cj_hp_relaxed.owl Facial hemangiomata UMLS:C1861443 human_phenotype owl:Class GO:0098635 biolink:NamedThing protein complex involved in cell-cell adhesion Any protein complex that is capable of carrying out some part of the process of cell-cell adhesion. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:0098636 biolink:NamedThing protein complex involved in cell adhesion Any protein complex that is capable of carrying out some part of the process of cell adhesion to the cell matrix or to another cell. tmpxe7fu0cj_hp_relaxed.owl cell adhesion complex GO:1990307 cellular_component owl:Class HP:0011939 biolink:NamedThing 3-4 finger cutaneous syndactyly A soft tissue continuity in the A/P axis between fingers 3 and 4. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023115 peter 2012-06-10T05:13:51Z owl:Class HP:0010554 biolink:NamedThing Cutaneous finger syndactyly A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. tmpxe7fu0cj_hp_relaxed.owl Cutaneous syndactyly of hands|Webbed skin of fingers|Webbed fingers|Cutaneous syndactyly of fingers UMLS:C4021254 We have set an arguably arbitrary threshold to distinguish the object form the subjective finding. While severe degrees of cutaneous syndactyly are clearly objective, more subtle degrees are subjective. We set this threshold to distinguish these two situations. The digits (or parts of) are joined together by tissue that is not normally present between the digits at that point in the P/D axis. A modifier of "complete" may be used if the cutaneous syndactyly extends to the distal end of the nail bed of the digits. The affected digits should be specified. Note that the unqualified term "syndactyly" is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly. sandra1 2009-10-07T10:59:57Z HP:0006220|HP:0001214|HP:0006054|HP:0005637 owl:Class HP:0100115 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the middle bone of the 2nd toe UMLS:C4022306 doelkens 2010-06-24T10:05:37Z human_phenotype owl:Class HP:0100089 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the middle bone of the 2nd toe UMLS:C4022332 doelkens 2010-06-24T10:01:42Z human_phenotype owl:Class GO:1900158 biolink:NamedThing negative regulation of bone mineralization involved in bone maturation Any process that stops, prevents or reduces the frequency, rate or extent of bone mineralization involved in bone maturation. tmpxe7fu0cj_hp_relaxed.owl downregulation of bone mineralization involved in bone maturation|inhibition of bone mineralization involved in bone maturation|down regulation of bone mineralization involved in bone maturation|down-regulation of bone mineralization involved in bone maturation vk 2012-03-07T08:55:12Z biological_process owl:Class GO:0032101 biolink:NamedThing regulation of response to external stimulus Any process that modulates the frequency, rate or extent of a response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class GO:0048583 biolink:NamedThing regulation of response to stimulus Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. tmpxe7fu0cj_hp_relaxed.owl Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class GO:0032108 biolink:NamedThing negative regulation of response to nutrient levels Any process that stops, prevents, or reduces the frequency, rate or extent of a response to nutrient levels. tmpxe7fu0cj_hp_relaxed.owl down regulation of response to nutrient levels|down-regulation of response to nutrient levels|downregulation of response to nutrient levels|inhibition of response to nutrient levels biological_process owl:Class HP:0040080 biolink:NamedThing Anteverted ears tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857055 HPO:skoehler owl:Class HP:0000357 biolink:NamedThing Abnormal location of ears Abnormal location of the ear. tmpxe7fu0cj_hp_relaxed.owl External ear position defect|Abnormal location of ears UMLS:C4021810 human_phenotype owl:Class HP:0100921 biolink:NamedThing Sclerosis of 5th finger phalanx An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in pinkie finger bone|Sclerosis of the phalanges of the 5th finger|Increased bone density in little finger bone|Increased bone density in pinky finger bone UMLS:C4020934 human_phenotype owl:Class HP:0004213 biolink:NamedThing Abnormal 5th finger phalanx morphology Abnormality of the phalanges of the 5th (little) finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the little finger bone|Abnormality of the pinky finger bone|Abnormality of the phalanges of the 5th finger|Abnormality of the pinkie finger bone UMLS:C4025408 human_phenotype owl:Class GO:0046890 biolink:NamedThing regulation of lipid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. tmpxe7fu0cj_hp_relaxed.owl regulation of lipid formation|regulation of lipid synthesis|regulation of lipid anabolism|regulation of lipid biosynthesis|regulation of lipogenesis biological_process owl:Class HP:0001950 biolink:NamedThing Respiratory alkalosis Alkalosis due to excess loss of carbon dioxide from the body. tmpxe7fu0cj_hp_relaxed.owl MSH:D000472|SNOMEDCT_US:111378004|UMLS:C0002064 human_phenotype owl:Class HP:0001948 biolink:NamedThing Alkalosis Depletion of acid or accumulation base in the body fluids. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0002063|MSH:D000471|SNOMEDCT_US:21420006 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. human_phenotype owl:Class HP:0030862 biolink:NamedThing Elevated CSF amyloid level Increased concentration of amyloid in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280738 owl:Class HP:0030860 biolink:NamedThing Abnormal CSF amyloid level Abnormal concentration of amyloid in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl Abnormal CSF A[beta]42 level UMLS:C4280740 In Alzheimer disease, histopathology typically reveals extracellular accumulations of amyloid beta (Abeta) in senile plaques and intracellular neurofibrillary tangles of hyperphosphorylated tau (P-tau). A[beta]42 is the 42 amino acid isoform of amyloid beta. Using positron emission tomography several studies found an inverse correlation between brain amyloid load and CSF A[beta]42. owl:Class UBERON:0005215 biolink:NamedThing kidney interstitium The interstitial compartment of the kidney, comprising the extravascular intertubular spaces of the renal parenchyma, with their attendant cellular elements and extracellular substances, bounded on all sides by epithelial and vascular basement membranes. tmpxe7fu0cj_hp_relaxed.owl renal stroma|interstitial tissue of kidney|kidney interstitium group|renal interstitial tissue|stroma of kidney|renal interstitium MA:0002616|NCIT:C33459|FMA:70983|EMAPA:28518 See https://sourceforge.net/p/geneontology/ontology-requests/10941/ uberon owl:Class The interstitium is necessarily involved in all intrarenal exchange processes since the reabsorption and secretion of fluid and solutes implicates a transit across the interstitial compartment. The fibroblasts in the interstitium provide the 'skeleton' of the tissue and maintain the three-dimensional architecture of the tissue. UBERON:0005010 biolink:NamedThing mucosa of neck of urinary bladder A mucosa that is part of a neck of urinary bladder [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bladder neck mucosa of organ|mucosa of neck of bladder|organ mucosa of vesical neck|mucosa of organ of urinary bladder neck|mucous membrane of neck of bladder|organ mucosa of neck of urinary bladder|bladder neck mucous membrane|mucous membrane of bladder neck|mucosa of organ of neck of urinary bladder|vesical neck mucosa of organ|neck of urinary bladder mucous membrane|neck of bladder mucous membrane|organ mucosa of urinary bladder neck|urinary bladder neck mucosa|mucosa of vesical neck|mucosa of organ of bladder neck|bladder neck organ mucosa|organ mucosa of neck of bladder|urinary bladder neck mucous membrane|bladder neck mucosa|vesical neck mucous membrane|vesical neck mucosa|mucosa of bladder neck|mucous membrane of vesical neck|vesical neck organ mucosa|mucosa of urinary bladder neck|neck of bladder mucosa|mucous membrane of urinary bladder neck|organ mucosa of bladder neck|neck of urinary bladder mucosa|neck of urinary bladder organ mucosa|neck of urinary bladder mucosa of organ|mucosa of organ of neck of bladder|neck of bladder organ mucosa|mucosa of organ of vesical neck|neck of bladder mucosa of organ|mucous membrane of neck of urinary bladder|urinary bladder neck mucosa of organ FMA:17846 uberon owl:Class UBERON:0000344 biolink:NamedThing mucosa A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP]. tmpxe7fu0cj_hp_relaxed.owl mucosal region|tunica mucosa|region of mucosa|organ mucosa|mucosa of organ part|mucous membrane|mucosa of organ galen:Mucosa|NCIT:C13166|AEO:0000199|FMA:85355|SCTID:361693009|MESH:D009092|EHDAA2_RETIRED:0003234|EV:0100382|BTO:0000886|FMA:85358|UMLS:C0026724|Wikipedia:Mucous_membrane|GAID:297|OpenCyc:Mx4rvmKNOpwpEbGdrcN5Y29ycA|CALOHA:TS-2031 http://upload.wikimedia.org/wikipedia/en/thumb/4/4e/Ens.png/200px-Ens.png|http://upload.wikimedia.org/wikipedia/commons/4/4e/Ens.png uberon owl:Class mucosal FMA has mucosa vs region of mucosa; these are subtypes of Mucosa: Mucosa of gallbladder, tongue, .... The following are subtypes of Region of mucosa: Mucosa of zone of stomach, trachea, bronchus, dorsum of tongue.... Depends on whether the covered area is an organ or organ component. Uberon does not regard organ vs organ component as crucial distinction and thus collapses these into a single class deliberately GO:0002685 biolink:NamedThing regulation of leukocyte migration Any process that modulates the frequency, rate, or extent of leukocyte migration. tmpxe7fu0cj_hp_relaxed.owl regulation of leucocyte migration|regulation of immune cell migration biological_process owl:Class GO:0002682 biolink:NamedThing regulation of immune system process Any process that modulates the frequency, rate, or extent of an immune system process. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0008061 biolink:NamedThing Aplasia/Hypoplasia of the retina tmpxe7fu0cj_hp_relaxed.owl Absent/small retina|Absent/underdeveloped retina UMLS:C4024740 peter 2008-04-02T03:30:00Z human_phenotype owl:Class HP:0008057 biolink:NamedThing Aplasia/Hypoplasia affecting the fundus tmpxe7fu0cj_hp_relaxed.owl Absent/small fundus UMLS:C4024744 peter 2008-04-02T03:27:00Z human_phenotype owl:Class UBERON:0001611 biolink:NamedThing sublingual artery A branch of the lingual artery that supplies the sublingual gland. tmpxe7fu0cj_hp_relaxed.owl sublingual branch of lingual artery|arteria sublingualis AAO:0010491|MA:0002049|EMAPA:37115|FMA:49543|UMLS:C0226106|NCIT:C53002 http://upload.wikimedia.org/wikipedia/commons/7/7a/Gray559.png Check grouping with amphibian structure of the same name uberon owl:Class Part of the external carotid which supplies blood to the tip of the snout where branches go to the tongue and the m. geniohyoideus.[AAO] relationship loss: part_of external carotid (AAO:0010218)[AAO] UBERON:0004393 biolink:NamedThing epiphysis of third metacarpal bone An epiphysis that is part of a metacarpal bone of digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl third metacarpal bone epiphysis|metacarpal 3 epiphysis FMA:86328 uberon owl:Class UBERON:0004390 biolink:NamedThing epiphysis of metacarpal bone An epiphysis that is part of a metacarpal bone [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epiphysis of metacarpal|metacarpal epiphysis|metacarpal bone epiphysis FMA:33792 uberon owl:Class UBERON:0035763 biolink:NamedThing cavity of cardiac chamber tmpxe7fu0cj_hp_relaxed.owl cardiac chamber cavity|heart cavity|heart lumen FMA:9464|EHDAA2:0004181 uberon owl:Class UBERON:0004805 biolink:NamedThing seminal vesicle epithelium An epithelium that is part of a seminal vesicle [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl seminal vesicle epithelial tissue|epithelial tissue of seminal gland|seminal gland epithelial tissue|epithelium of seminal vesicle|epithelial tissue of seminal vesicle|seminal gland epithelium|epithelium of seminal gland NCIT:C49295|MA:0001745|EMAPA:29771|CALOHA:TS-2069|UMLS:C1710049 uberon owl:Class UBERON:0012275 biolink:NamedThing meso-epithelium Epithelium that derives from the mesoderm. [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mesoderm-derived epithelium|mesoepithelium FMA:86452 uberon owl:Class HP:0004878 biolink:NamedThing Intercostal muscle weakness Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall. tmpxe7fu0cj_hp_relaxed.owl Dependence on diaphragmatic breathing|Muscle weakness between ribs UMLS:C0240017 owl:Class HP:0001324 biolink:NamedThing Muscle weakness Reduced strength of muscles. tmpxe7fu0cj_hp_relaxed.owl Muscular weakness|Muscle weakness UMLS:C0151786|MSH:D018908|SNOMEDCT_US:26544005 It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. HP:0009061|HP:0008979|HP:0002309|HP:0009012 human_phenotype owl:Class HP:0012160 biolink:NamedThing Intracranial internal carotid artery dissection A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023017 peter 2013-02-16T07:31:51Z human_phenotype owl:Class HP:0012159 biolink:NamedThing Internal carotid artery dissection A separation (dissection) of the layers of the internal carotid artery wall. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0751815|MSH:D020215|SNOMEDCT_US:705066004 The internal carotid begins at the bifurcation of the common carotid, opposite the upper border of the thyroid cartilage, and runs perpendicularly upward. It supplies the anterior part of the brain, the eye and its appendages, and sends branches to the forehead and nose. Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation. peter 2013-02-16T07:22:28Z human_phenotype owl:Class HP:0011460 biolink:NamedThing Embryonal onset Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023348 The time interval of a gestation is called the gestation period. In human obstetrics, gestational age refers to the fertilization age plus two weeks. This is approximately the duration since the woman's last menstrual period began. peter 2012-03-25T06:57:48Z owl:Class HP:0003674 biolink:NamedThing Onset The age group in which disease manifestations appear. tmpxe7fu0cj_hp_relaxed.owl Age of onset|Age symptoms begin MSH:D017668|UMLS:C0206132 Adolescent is defined by WHO as a person between 10-19 years of age. HP:0003597|HP:0003668|HP:0003664|HP:0003630|HP:0003590|HP:0003626|HP:0003618|HP:0003628|HP:0003663|HP:0003603|HP:0003602|HP:0003588|HP:0011007 human_phenotype owl:Class GO:0014064 biolink:NamedThing positive regulation of serotonin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of serotonin. tmpxe7fu0cj_hp_relaxed.owl up-regulation of serotonin secretion|up regulation of serotonin secretion|activation of serotonin secretion|upregulation of serotonin secretion|positive regulation of serotonin release|stimulation of serotonin secretion biological_process owl:Class UBERON:0011298 biolink:NamedThing submucosa of uterine tube The submucous layer of the wall of the uterine tube. tmpxe7fu0cj_hp_relaxed.owl submucosa of fallopian tube|submucous layer of uterine tube|uterine submucosa|tela submucosa tubae uterinae BTO:0002116 uberon owl:Class UBERON:0000009 biolink:NamedThing submucosa A layer of dense irregular connective tissue that lines organs and supports the mucosa, as well as joins the mucosa to the bulk of underlying smooth muscle. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl tunica submucosa|tela submucosa|submucous layer|organ submucosa|region of submucosa|submucosa of region of organ|submucosa of organ BTO:0002107|FMA:85392|Wikipedia:Submucosa|SCTID:68439008|FMA:85391|NCIT:C13167|UMLS:C0225344 http://upload.wikimedia.org/wikipedia/en/thumb/4/4e/Ens.png/200px-Ens.png|http://upload.wikimedia.org/wikipedia/commons/4/4e/Ens.png uberon owl:Class submucosal HP:0200106 biolink:NamedThing Absent/shortened dynein arms tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021891 sebastiankohler 2013-06-05T12:14:18Z human_phenotype owl:Class HP:0012255 biolink:NamedThing Dynein arm defect of respiratory motile cilia An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022990 The peripheral microtubules in the canonical 9 + 2 microtubular pattern of motile cilia are studded with dynein arms that contain adenosine triphosphatases and act as molecular motors to effect the sliding of the peripheral microtubular pairs relative to one another. peter 2013-04-07T09:20:03Z human_phenotype owl:Class UBERON:0003459 biolink:NamedThing chest bone A bone that is part of a chest [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bone organ of front of thorax|anterolateral part of thorax bone organ|front of thorax bone organ|chest bone organ|bone organ of anterior thoracic region|bone organ of chest|bone of chest|bone of anterior thoracic region|bone of anterolateral part of thorax|anterior thoracic region bone organ|anterior thoracic region bone|front of thorax bone|bone organ of anterolateral part of thorax|anterolateral part of thorax bone|bone of front of thorax MA:0000547|EMAPA:18025 uberon owl:Class GO:0010544 biolink:NamedThing negative regulation of platelet activation Any process that decreases the rate or frequency of platelet activation. Platelet activation is a series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0050866 biolink:NamedThing negative regulation of cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of cell activation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of cell activation|inhibition of cell activation|downregulation of cell activation|down regulation of cell activation biological_process owl:Class HP:0034147 biolink:NamedThing Anti-aminoacyl-tRNA synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 13:56:59+00:00 Antibodies reactive with aminoacyl-tRNA synthetases (ARS) can be detected in patients with polymyositis and dermatomyositis. Eight anti-ARS Abs have been described: anti-histidyl (anti-Jo-1), anti-threonyl (anti-PL-7), anti-alanyl (anti-PL-12), anti-glycyl (anti-EJ), anti-isoleucyl (anti-OJ), anti-asparaginyl (anti-KS), anti-phenylalanyl (anti-Zo), and anti-tyrosyl (anti-Ha) tRNAs. peter owl:Class UBERON:0002385 biolink:NamedThing muscle tissue Muscle tissue is a contractile tissue made up of actin and myosin fibers[GO]. tmpxe7fu0cj_hp_relaxed.owl textus muscularis|muscular tissue|portion of muscle tissue MESH:D009132|Wikipedia:Muscle_tissue|AEO:0000122|EMAPA:32715|galen:MuscleTissue|EHDAA2:0003122|FMA:9641|SCTID:91727004|CALOHA:TS-0642|UMLS:C2328219|AAO:0000306|MA:0002437|NCIT:C12435 Vertebrate muscle is categorized into three major muscle types defined by their structural and functional properties: skeletal, cardiac and smooth. In Dmel the counterparts are somatic, heart/cardiac and visceral. Here we take a cell type based approach. uberon owl:Class One of the four types of tissue in traditional classifications. Tissue that contains cells with contractile filaments that move past each other and change the size of the cell. Muscle tissue also is separated into three distinct categories.[AAO] UBERON:0001894 biolink:NamedThing diencephalon The division of the forebrain that develops from the foremost primary cerebral vesicle. tmpxe7fu0cj_hp_relaxed.owl DiE|thalamencephalon|interbrain|mature diencephalon|between brain|betweenbrain|diencephalon ZFA:0000101|TAO:0000101|SCTID:279328001|BAMS:Di|CALOHA:TS-0199|EHDAA:2645|MESH:A08.186.211.730.385|XAO:0000013|MAT:0000420|EHDAA2:0000385|EHDAA:1969|HBA:4391|MA:0000171|BAMS:Zh.|EMAPA:16896|EFO:0000911|EHDAA:3472|FMA:62001|EV:0100194|Wikipedia:Diencephalon|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=288|PBA:128013010|BTO:0000342|BM:Die|UMLS:C0012144|NCIT:C12456|BAMS:DI|DHBA:10389|AAO:0010481|VHOG:0000318|DMBA:16308|OpenCyc:Mx4rwC-V0JwpEbGdrcN5Y29ycA|MIAA:0000420|MBA:1129|GAID:618|BIRNLEX:1503|BAMS:DiE|BAMS:IB http://upload.wikimedia.org/wikipedia/commons/5/54/EmbryonicBrain.svg uberon owl:Class Unpaired part of the forebrain comprised of three major parts; the epithalamus, thalamus, and hypothalamus.[AAO]|The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). Kimmel et al, 1995.[TAO] Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG] diencephalic in ABA, this is part of the brain stem HP:0030353 biolink:NamedThing Decreased serum insulin-like growth factor 1 A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072897 owl:Class HP:0030352 biolink:NamedThing Abnormal serum insulin-like growth factor 1 level An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072896 owl:Class CHEBI:38179 biolink:NamedThing monocyclic heteroarene tmpxe7fu0cj_hp_relaxed.owl monocyclic heteroarenes chebi_ontology owl:Class CHEBI:33833 biolink:NamedThing heteroarene A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2). tmpxe7fu0cj_hp_relaxed.owl heteroarenes|hetarenes chebi_ontology owl:Class HP:0030424 biolink:NamedThing Epididymal cyst A smooth, extratesticular, spherical cyst in the head of the epididymis. tmpxe7fu0cj_hp_relaxed.owl Epididymal cysts MSH:D013088|SNOMEDCT_US:43077002|UMLS:C0037859|SNOMEDCT_US:49263001 Diagnosis of epididymal cyst can be confirmed by scrotal ultrasound. Patients can present with scrotal mass or pain. Epididymal cysts are usually between 3-30 mm in diameter. In some cases they can resolve spontaneously. owl:Class HP:0009714 biolink:NamedThing Abnormality of the epididymis An abnormality of the epididymis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024222 The epididymis is the structure that connects efferent ductules to vas deferens. peter 2009-01-30T11:44:43Z human_phenotype owl:Class HP:0025324 biolink:NamedThing Arterial occlusion Blockage of blood flow through an artery. tmpxe7fu0cj_hp_relaxed.owl 2017-02-03 12:09:18+00:00 HPO:probinson owl:Class UBERON:0001091 biolink:NamedThing calcareous tooth Skeletal element within the mouth (or in some species, upper part of the digestive tract) that is composed of dentine and is used in procuring or masticating food. tmpxe7fu0cj_hp_relaxed.owl vertebrate tooth|tooth|dental element|dentine containing tooth OpenCyc:Mx4rvVjUEZwpEbGdrcN5Y29ycA|VHOG:0001733|GAID:1260|AEO:0000220|XAO:0000431|MESH:A14.254.860|EMAPA:32906|ZFA:0000694|MAT:0000041|BTO:0000397|MIAA:0000041|NCIT:C12506|MA:0000348|CALOHA:TS-1055|EFO:0000839|TAO:0001625|EHDAA2:0004605|EV:0100063|UMLS:C0040426|FMA:12516 http://upload.wikimedia.org/wikipedia/commons/1/14/Teeth_by_David_Shankbone.jpg we place ZFA ctb 5 tooth here for now. Consider changing name from calcaeeous tooth. Note that sea cucumbers develop calcareous tooth-like structures uberon owl:Class The ancestor of recent vertebrate teeth was a tooth-like structure on the outer body surface of jawless fishes.[well established][VHOG] dental absent in living platypus, present in toothed Miocene platypus Obduron dicksoni UBERON:0003913 biolink:NamedThing tooth-like structure Hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. tmpxe7fu0cj_hp_relaxed.owl tooth-like organ HAO:0001019 see dermal denticle uberon owl:Class HP:0032240 biolink:NamedThing Elevated circulating E selectin level An increased concentration of E selectin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-01-26 19:35:17+00:00 peter owl:Class HP:0012008 biolink:NamedThing Focal cognitive seizure with illusion A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl Illusory auras|Illusory aura UMLS:C4023083 hecht 2012-07-20T11:57:32Z HP:0032695 owl:Class HP:0032680 biolink:NamedThing Focal cognitive seizure A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure. tmpxe7fu0cj_hp_relaxed.owl Cognitive aura|Cognitive seizure|Partial cognitive seizure In order to characterize focal cognitive seizures, specific testing may be required early during the seizure. peter HP:0011162 owl:Class UBERON:0014702 biolink:NamedThing frontonasal process epithelium An epithelium that is part of a frontonasal prominence. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004108|EMAPA:32918 uberon owl:Class PR:000002112 biolink:NamedThing vascular endothelial growth factor receptor 2 A vascular endothelial growth factor receptor that is a translation product of the human KDR gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl protein-tyrosine kinase receptor flk-1|KDR|kinase NYK|fetal liver kinase 1|VEGFR-2|FLK1|FLK-1|kinase insert domain receptor|VEGFR2|CD309 IUPHARobj:1813 Category=gene. Requested by=CL. protein owl:Class PR:000001971 biolink:NamedThing vascular endothelial growth factor receptor A protein with core architecture consisting of a signal sequence, followed by 7 Ig-like domains (Pfam:PF00047, Pfam:PF07679, or Pfam:PF07686), a transmembrane region, and a cytoplasmic Protein tyrosine kinase domain. tmpxe7fu0cj_hp_relaxed.owl PIRSF:PIRSF038502 Category=family. protein owl:Class HP:0033150 biolink:NamedThing Anorectal abscess An abscess located at the junction of the anal canal and the rectum. tmpxe7fu0cj_hp_relaxed.owl 2020-09-20 11:07:40+00:00 peter owl:Class CHEBI:59869 biolink:NamedThing L-alpha-amino acid zwitterion Zwitterionic form of an L-alpha-amino acid having an anionic carboxy group and a protonated amino group. tmpxe7fu0cj_hp_relaxed.owl an L-alpha-amino acid|L-alpha-amino acid zwitterions 0 C2H4NO2R 74.059 74.02420 [NH3+][C@@H]([*])C([O-])=O chebi_ontology owl:Class CHEBI:78608 biolink:NamedThing alpha-amino acid zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any alpha-amino acid; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl an alpha-amino acid 0 C2H4NO2R 74.059 74.02420 [NH3+]C([*])C([O-])=O MetaCyc:Alpha-Amino-Acids CHEBI:83409 chebi_ontology owl:Class GO:0001756 biolink:NamedThing somitogenesis The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo. tmpxe7fu0cj_hp_relaxed.owl formation of mesodermal clusters Wikipedia:Somitogenesis biological_process owl:Class GO:0009952 biolink:NamedThing anterior/posterior pattern specification The regionalization process in which specific areas of cell differentiation are determined along the anterior-posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism. tmpxe7fu0cj_hp_relaxed.owl anterior/posterior pattern formation biological_process owl:Class HP:0010981 biolink:NamedThing Hypolipoproteinemia An abnormal decrease in the level of lipoprotein cholesterol in the blood. tmpxe7fu0cj_hp_relaxed.owl Lack of fat in blood SNOMEDCT_US:267436001|MSH:D007009|SNOMEDCT_US:363140000|UMLS:C0020623 peter 2011-02-07T11:01:50Z human_phenotype owl:Class HP:0010533 biolink:NamedThing Spasmus nutans The combination of pendular nystagmus, head nodding, and torticollis. tmpxe7fu0cj_hp_relaxed.owl MSH:D013036|UMLS:C0546878|SNOMEDCT_US:18191000 peter 2009-09-20T09:19:57Z human_phenotype owl:Class HP:0012043 biolink:NamedThing Pendular nystagmus Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. tmpxe7fu0cj_hp_relaxed.owl Nystagmus, continuous pendular|Nystagmus, pendular SNOMEDCT_US:35743001|MSH:D009759|UMLS:C0271388|UMLS:C4020734 peter 2012-08-01T12:04:00Z human_phenotype owl:Class UBERON:0005033 biolink:NamedThing mucosa of gallbladder A mucosa that is part of a gallbladder [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl gall bladder mucosa|mucous membrane of gall bladder|organ mucosa of gall bladder|gall bladder mucosa of organ|mucosa of gall bladder|organ mucosa of gallbladder|mucosa of organ of gallbladder|gallbladder mucosa|gallbladder mucosa of organ|mucosa of organ of gall bladder|mucous membrane of gallbladder|tunica mucosa vesicae biliaris|tunica mucosa (vesica biliaris)|gallbladder organ mucosa|gall bladder organ mucosa|gall bladder mucous membrane|gallbladder mucous membrane FMA:14662 uberon owl:Class UBERON:0008572 biolink:NamedThing posterior crico-arytenoid The posterior cricoarytenoid muscles are extremely small, paired muscles that extend from the posterior cricoid cartilage to the arytenoid cartilages in the larynx. By rotating the arytenoid cartilages laterally, these muscles abduct the vocal cords and thereby open the rima glottidis. Their action opposes the lateral cricoarytenoid muscles. The posterior cricoarytenoid muscles receive innervation from the recurrent laryngeal branch of the vagus nerve (CN X). Paralysis of the posterior cricoarytenoid muscles may lead to asphyxiation as they are the only laryngeal muscles to open the true vocal folds, allowing inspiration and expiration. tmpxe7fu0cj_hp_relaxed.owl cricoarytaenoideus posterior|posterior cricoarytenoid|posterior cricoarytenoideus|musculus cricoarytenoideus posterior|cricoarytænoideus posterior|posterior cricoarytenoid muscle FMA:46576 http://upload.wikimedia.org/wikipedia/commons/9/9d/Musculuscricoarytenoideusposterior.png uberon owl:Class UBERON:0010932 biolink:NamedThing crico-arytenoid muscle Cricoarytenoid muscles are muscles that connect the cricoid cartilage and arytenoid cartilage. More specifically, it can refer to: Posterior cricoarytenoid muscle Lateral cricoarytenoid muscle. tmpxe7fu0cj_hp_relaxed.owl cricoarytenoid|crico-arytenoid|cricoarytenoideus|cricoarytenoid muscle MA:0002283|UMLS:C0448336|NCIT:C32398|EMAPA:37498 http://upload.wikimedia.org/wikipedia/commons/9/96/Gray959.png candidate for obsoletion. See https://github.com/obophenotype/uberon/issues/530 uberon https://github.com/obophenotype/uberon/issues/530 owl:Class GO:0060265 biolink:NamedThing positive regulation of respiratory burst involved in inflammatory response Any process that increases the rate, frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases made as a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. tmpxe7fu0cj_hp_relaxed.owl positive regulation of respiratory burst involved in acute inflammatory response biological_process owl:Class HP:5000038 biolink:NamedThing Anti-titin antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin. tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-3387-1836 owl:Class HP:0002335 biolink:NamedThing Agenesis of cerebellar vermis Congenital absence of the vermis of cerebellum. tmpxe7fu0cj_hp_relaxed.owl Vermian agenesis|Cerebellar vermis aplasia UMLS:C0431399|SNOMEDCT_US:716997004|SNOMEDCT_US:253175003|MSH:C536293 HP:0007125 human_phenotype owl:Class HP:0006817 biolink:NamedThing Aplasia/Hypoplasia of the cerebellar vermis Absence or underdevelopment of the vermis of cerebellum. tmpxe7fu0cj_hp_relaxed.owl Cerebellar vermis aplasia or hypoplasia|Hypo/aplastic vermis|Cerebellar vermis aplasia/hypoplasia UMLS:C3280770|UMLS:C1855676 HP:0007080|HP:0005690 owl:Class HP:0030712 biolink:NamedThing Uterine synechiae Adhesions or scar tissue that form inside the cavity of the uterus. tmpxe7fu0cj_hp_relaxed.owl Asherman syndrome UMLS:C0156372|MSH:D006175|SNOMEDCT_US:48236007 Asherman syndrome is a condition characterized by formation of intrauterine adhesions and results from injury to the endometrium. Asherman syndrome is often associated with infertility. owl:Class HP:0031105 biolink:NamedThing Abnormal uterus morphology Any anomaly of the structure of the uterus tmpxe7fu0cj_hp_relaxed.owl 2017-05-30 02:52:38+00:00 peter owl:Class HP:0033399 biolink:NamedThing Persistent fever Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 14:45:19+00:00 In most patients with fever lasting 1 to 2 weeks, the etiology will be found or the fever will disappear. If fever persists beyond this point, a patient is said to have a said to have fever of undetermined origin. The distinction between 'fever of unknown origin' (FUO) and 'Persistent fever' is that FUO refers to a febrile disease whose cause is yet unknown, and persistent fever is a clinical manifestation of an FUO or of a disease of known etiology that is characterized by fever that last longer than 2-3 weeks. peter owl:Class HP:0001945 biolink:NamedThing Fever Body temperature elevated above the normal range. tmpxe7fu0cj_hp_relaxed.owl Fever|Hyperthermia|Pyrexia SNOMEDCT_US:50177009|MSH:D005334|SNOMEDCT_US:386661006|UMLS:C0015967 Fever has been defined as a state of elevated core temperature, which is often, but not necessarily, part of the defensive responses of multicellular organisms (host) to the invasion of live (microorganisms) or inanimate matter recognized as pathogenic or alien by the host. The febrile response (of which fever is a component) is a complex physiologic reaction to disease, involving a cytokine-mediated rise in core temperature, generation of acute phase reactants, and activation of numerous physiologic, endocrinologic, and immunologic systems. The rise in temperature during fever is to be distinguished from that occurring during episodes of hyperthermia. Unlike fever, hyperthermia involves an unregulated rise in body temperature in which pyrogenic cytokines are not directly involved and against which standard antipyretics are ineffective. It represents a failure of thermoregulatory homeostasis, in which there is uncontrolled heat production, inadequate heat dissipation, or defective hypothalamic thermoregulation. owl:Class GO:1900147 biolink:NamedThing regulation of Schwann cell migration Any process that modulates the frequency, rate or extent of Schwann cell migration. tmpxe7fu0cj_hp_relaxed.owl bf 2012-03-06T04:14:50Z biological_process owl:Class HP:0041236 biolink:NamedThing Fractured middle phalanx of manus A partial or complete breakage of the middle phalanx of manus. tmpxe7fu0cj_hp_relaxed.owl bone middle phalanx of manus owl:Class HP:0041241 biolink:NamedThing Fractured phalanx of manus A partial or complete breakage of the phalanx of manus. tmpxe7fu0cj_hp_relaxed.owl bone phalanx of manus owl:Class CHEBI:17120 biolink:NamedThing hexanoate A short-chain fatty acid anion that is the conjugate base of hexanoic acid (also known as caproic acid). tmpxe7fu0cj_hp_relaxed.owl butylacetate|1-hexanoate|capronate|nPnCO2 anion|CH3-[CH2]4-COO(-)|hexoate|n-caproate|1-pentanecarboxylate|n-hexanoate|caproate|1-pentacarboxylate|hexanoate|pentanecarboxylate|pentylformate|n-hexylate|hexylate|n-hexoate -1 C6H11O2 InChI=1S/C6H12O2/c1-2-3-4-5-6(7)8/h2-5H2,1H3,(H,7,8)/p-1 FUZZWVXGSFPDMH-UHFFFAOYSA-M 115.15034 115.07645 CCCCCC([O-])=O Gmelin:326340|Beilstein:3601453|MetaCyc:HEXANOATE|KEGG:C01585|ECMDB:ECMDB21229|CAS:151-33-7 CHEBI:24569|CHEBI:14398 chebi_ontology owl:Class GO:2000859 biolink:NamedThing negative regulation of aldosterone secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:2000856 biolink:NamedThing negative regulation of mineralocorticoid secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0009659 biolink:NamedThing Partial absence of thumb The absence of a phalangeal segment of a thumb. tmpxe7fu0cj_hp_relaxed.owl Partial absence of thumb|Aplasia of the phalanges of the thumb UMLS:C4020780|UMLS:C4024255 doelkens 2009-01-29T05:35:50Z HP:0004065 human_phenotype owl:Class HP:0009658 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the thumb tmpxe7fu0cj_hp_relaxed.owl Absent/small thumb bones|Absent/underdeveloped thumb bones UMLS:C4024256 doelkens 2009-01-29T05:29:26Z HP:0005834 human_phenotype owl:Class HP:0004263 biolink:NamedThing Large capitate bone tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025383 human_phenotype owl:Class HP:0004262 biolink:NamedThing Abnormality of the capitate bone tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025384 human_phenotype owl:Class UBERON:0002051 biolink:NamedThing epithelium of bronchiole An epithelium that is part of a bronchiole [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lobular bronchiole epithelium|lobular bronchiole epithelial tissue|epithelial tissue of lobular bronchiole|bronchiolar epithelium|epithelium of lobular bronchiole|bronchiole epithelium|bronchiole epithelial tissue|epithelial tissue of bronchiole FMA:62497|UMLS:C1181296|FMA:69077|MA:0001772|BTO:0001866|NCIT:C48942|CALOHA:TS-0570|EMAPA:32693 uberon owl:Class in FMA2 and FMA3, lobular bronchiole is an exact synonym of bronchiole; however there are two distinct terms for the corresponding epithelium. UBERON:0004802 biolink:NamedThing respiratory tract epithelium The pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of respiratory tract|epithelium of respiratory tract|respiratory tract epithelial tissue|respiratory epithelium|airway epithelium BTO:0000419|EMAPA:32827|MA:0001480|VHOG:0000981|SCTID:321764001|CALOHA:TS-0023 uberon owl:Class HP:0008213 biolink:NamedThing Gonadotropin deficiency A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). tmpxe7fu0cj_hp_relaxed.owl Pituitary gonadotropin deficiency SNOMEDCT_US:33927004|MSH:D007006|UMLS:C0271623 HP:0008192 human_phenotype owl:Class HP:0000830 biolink:NamedThing Anterior hypopituitarism A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025821 human_phenotype owl:Class HP:0011227 biolink:NamedThing Elevated circulating C-reactive protein concentration An abnormal elevation of the C-reactive protein level in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated C-reactive protein level|Elevated CRP UMLS:C0742906|UMLS:C4023452 C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation. peter 2011-12-13T11:04:10Z owl:Class HP:0033331 biolink:NamedThing Acute phase response Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 16:35:16+00:00 peter owl:Class GO:0048823 biolink:NamedThing nucleate erythrocyte development The process aimed at the progression of a nucleate erythrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. tmpxe7fu0cj_hp_relaxed.owl nucleate red blood cell development|nucleate RBC development biological_process owl:Class HP:0011968 biolink:NamedThing Feeding difficulties Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. tmpxe7fu0cj_hp_relaxed.owl Poor feeding|Feeding problems|Feeding difficulties SNOMEDCT_US:78164000|UMLS:C0232466 peter 2012-07-18T10:25:05Z owl:Class HP:0011458 biolink:NamedThing Abdominal symptom A subjective manifestation of disease localized to the abdomen. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0740651 peter 2012-03-25T05:35:45Z owl:Class UBERON:0007282 biolink:NamedThing presumptive segmental plate A presumptive structure that has the potential to develop into a presomitic mesoderm. tmpxe7fu0cj_hp_relaxed.owl presumptive segmental plates TAO:0000053|EFO:0003421|ZFA:0000053 uberon owl:Class UBERON:0010955 biolink:NamedThing trapezius pre-muscle mass tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0002079 uberon owl:Class UBERON:0010258 biolink:NamedThing mesenchyme from rhombencephalic neural crest Mesenchyme that develops_from a rhombencephalon neural crest. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004423 uberon owl:Class GO:1905807 biolink:NamedThing negative regulation of synapse pruning Any process that stops, prevents or reduces the frequency, rate or extent of synapse pruning. tmpxe7fu0cj_hp_relaxed.owl inhibition of synapse disassembly|regulation of synapse disassembly|down regulation of synapse disassembly|regulation of synapse removal|regulation of synapse clearance|downregulation of synapse disassembly|regulation of synapse elimination|down-regulation of synapse disassembly tb 2017-01-11T22:03:24Z biological_process owl:Class HP:0032707 biolink:NamedThing Focal aware cognitive seizure with dyslexia/alexia A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032694 biolink:NamedThing Focal cognitive seizure with dyslexia/alexia A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl Dyslexia / alexia is the inability to read due to an impairment in understanding written words rather than visual impairment. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. peter owl:Class GO:0120035 biolink:NamedThing regulation of plasma membrane bounded cell projection organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of plasma membrane bounded cell projections. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/13298 krc 2017-04-26T16:02:06Z biological_process owl:Class GO:0031344 biolink:NamedThing regulation of cell projection organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. tmpxe7fu0cj_hp_relaxed.owl regulation of cell projection organization and biogenesis|regulation of cell projection organisation biological_process owl:Class UBERON:0001800 biolink:NamedThing sensory ganglion The clusters of neurons in the somatic peripheral nervous system which contain the cell bodies of sensory nerve axons, interneurons and non-neuronal supporting cells. tmpxe7fu0cj_hp_relaxed.owl ganglion sensorium EMAPA:36596|MESH:D017950|BTO:0005630|FMA:5885|NCIT:C13060|AEO:0001000|UMLS:C0206429|MA:0002566 uberon owl:Class HP:0032643 biolink:NamedThing Renal interstitial non-necrotizing granulomas Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. tmpxe7fu0cj_hp_relaxed.owl Renal interstitial non-necrotizing granulomata peter owl:Class HP:0032641 biolink:NamedThing Renal interstitial granulomas Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. tmpxe7fu0cj_hp_relaxed.owl Renal interstitial granulomata peter owl:Class HP:0500191 biolink:NamedThing Increased CSF leucine concentration Abnormally increased levels of leucine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High leucine levels in cerebrospinal fluid 2019-02-25 15:53:12+00:00 owl:Class HP:0500189 biolink:NamedThing Abnormal CSF leucine concentration Any deviation from the normal concentration of leucine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal leucine levels in cerebrospinal fluid 2019-02-25 15:52:19+00:00 owl:Class HP:0009385 biolink:NamedThing Enlarged epiphyses of the 5th finger Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the pinkie finger bones|Enlarged end part of the little finger bones|Enlarged end part of the pinky finger bones UMLS:C4024404 doelkens 2009-01-13T01:19:03Z human_phenotype owl:Class HP:0010231 biolink:NamedThing Enlarged epiphyses of the phalanges of the hand Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of finger bones|Enlarged phalangeal epiphyses|Enlarged epiphyses of the fingers UMLS:C1865036 doelkens 2009-07-06T03:31:52Z HP:0009362|HP:0006023 human_phenotype owl:Class GO:0010662 biolink:NamedThing regulation of striated muscle cell apoptotic process Any process that modulates the rate or extent of striated muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a striated muscle cell and result in its death. tmpxe7fu0cj_hp_relaxed.owl regulation of striated muscle cell apoptosis biological_process owl:Class GO:0010660 biolink:NamedThing regulation of muscle cell apoptotic process Any process that modulates the rate or frequency of muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a muscle cell and result in its death. tmpxe7fu0cj_hp_relaxed.owl regulation of muscle cell apoptosis biological_process owl:Class GO:0061080 biolink:NamedThing right horn of sinus venosus development The progression of the right horn of the sinus venosus from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl dph 2010-04-08T02:45:10Z biological_process owl:Class HP:0012408 biolink:NamedThing Medullary nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:236447005|UMLS:C0403477 peter 2013-11-10T10:45:27Z human_phenotype owl:Class HP:0000121 biolink:NamedThing Nephrocalcinosis Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. tmpxe7fu0cj_hp_relaxed.owl Increased calcium level in kidney|Too much calcium deposited in kidneys UMLS:C4280679|SNOMEDCT_US:48638002|MSH:D009397|UMLS:C0027709 Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content. human_phenotype owl:Class UBERON:0000059 biolink:NamedThing large intestine A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]. tmpxe7fu0cj_hp_relaxed.owl intestinum crassum VHOG:0000054|MIAA:0000046|XAO:0000131|EMAPA:19252|CALOHA:TS-1306|FMA:7201|galen:LargeIntestine|NCIT:C12379|MA:0000333|GAID:306|EFO:0000840|MESH:A03.492.411.495|BTO:0000706|AAO:0010396|OpenCyc:Mx4rvVkF5pwpEbGdrcN5Y29ycA|EV:0100077|UMLS:C0021851 uberon owl:Class Intestinal surface area also is increased in amphibians and reptiles by internal folds and occasionally by a few villi. The intestine can be divided into a small intestine and a slightly wider large intestine.[well established][VHOG] HP:0009375 biolink:NamedThing Bullet-shaped phalanges of the 5th finger A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped pinky finger bones|Bullet-shaped little finger bones|Bullet-shaped pinkie finger bones UMLS:C4024411 doelkens 2009-01-13T10:58:05Z human_phenotype owl:Class HP:0003141 biolink:NamedThing Increased LDL cholesterol concentration An elevated concentration of low-density lipoprotein cholesterol in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased plasma LDL levels|Hyperbetalipoproteinemia|Increased circulating low-density lipoprotein cholesterol|Increased LDL cholesterol|Increased circulating low-density lipoprotein levels|Increased beta-lipoproteins|Increased circulating LDL level|Increased LDLc concentration UMLS:C0549399|MSH:D006938|UMLS:C0020445|SNOMEDCT_US:398036000|SNOMEDCT_US:190773008 HP:0008343 human_phenotype owl:Class HP:0010980 biolink:NamedThing Hyperlipoproteinemia An abnormal increase in the level of lipoprotein cholesterol in the blood. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:3744001|UMLS:C0020476|MSH:D006951 peter 2011-02-07T10:56:30Z human_phenotype owl:Class HP:0100634 biolink:NamedThing Neuroendocrine neoplasm A tumor that originates from a neuroendocrine cell. tmpxe7fu0cj_hp_relaxed.owl Neuroendocrine neoplasia MSH:D018358|UMLS:C0206754|SNOMEDCT_US:255046005|SNOMEDCT_US:128928004 Neuroendocrine tumors are often diagnosed incidentally or when patients present with symptoms related to hormone production and/or tumor burden. doelkens 2010-12-29T05:12:37Z owl:Class HP:0100568 biolink:NamedThing Neoplasm of the endocrine system A tumor (abnormal growth of tissue) of the endocrine system. tmpxe7fu0cj_hp_relaxed.owl Endocrine neoplasia NCIT:C3262|SNOMEDCT_US:387922007|MSH:D004701|UMLS:C0014132|SNOMEDCT_US:387927001 doelkens 2010-12-21T04:55:15Z owl:Class UBERON:0034726 biolink:NamedThing trunk taste bud A taste bud that is located on the skin of the trunk. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0034717 biolink:NamedThing integumental taste bud A taste bud that is located external to the digestive tube, on the head or body, as found in species such as goldfish. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0005687 biolink:NamedThing orbitosphenoid cartilage element An orbitosphenoid endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl sphenoid lesser wing cartilage element EHDAA2:0001329|EHDAA:9554 uberon owl:Class UBERON:0009891 biolink:NamedThing facial mesenchyme Mesenchyme that is part of a developing face. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of face|face mesenchyme EMAPA:35337|FMA:302884 uberon owl:Class UBERON:0005742 biolink:NamedThing adventitia An outermost connective tissue covering of an organ, vessel, or other structure[WP]. tmpxe7fu0cj_hp_relaxed.owl tunica externa|tunica advetitia SCTID:30180000|FMA:45635|Wikipedia:Adventitia|BTO:0002010 http://upload.wikimedia.org/wikipedia/commons/e/e8/Illu_esophageal_layers.jpg uberon owl:Class UBERON:0004923 biolink:NamedThing organ component layer A part of a wall of an organ that forms a layer. tmpxe7fu0cj_hp_relaxed.owl FMA:82485 uberon owl:Class CHEBI:52395 biolink:NamedThing oxyketone A compound with the general formula R2C=O (R=/=H) where one or more of the R groups contains an oxy (-O-) group. tmpxe7fu0cj_hp_relaxed.owl oxyketones chebi_ontology owl:Class CHEBI:17087 biolink:NamedThing ketone A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H). tmpxe7fu0cj_hp_relaxed.owl Keton|a ketone|ketones|cetone|Ketone|R-CO-R' 0 COR2 28.010 27.99491 [*]C([*])=O Wikipedia:Ketone|KEGG:C01450 CHEBI:13427|CHEBI:24974|CHEBI:6127|CHEBI:8742|CHEBI:13646 chebi_ontology owl:Class HP:0031157 biolink:NamedThing Carotid cavernous fistula An abnormal connection between a carotid artery and the cavernous sinus. tmpxe7fu0cj_hp_relaxed.owl Caroticocavernous fistula 2017-06-18 13:31:58+00:00 The cavernous sinus is a dural venous sinus in the skull that is adjacent to the temporal bone and the sphenoid bone. The carotid cavernous fistula is a type of arteriovenous fistula that causes arterial blood to enter the cavernous sinus. Clinical findings include head, ocular, and facial pain, pulsatile proptosis, chemosis, periorbital edema, conjunctival injection, double vision, glaucoma and, visual loss. peter owl:Class HP:0005344 biolink:NamedThing Abnormal carotid artery morphology Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the carotid arteries UMLS:C4025211 peter 2008-03-26T06:37:00Z owl:Class UBERON:0001182 biolink:NamedThing superior mesenteric artery Mesenteric artery that supplies the whole length of the small intestine except the superior part of the duodenum. It also supplies the cecum and the ascending part of the colon and about half the transverse part of the colon. It arises from the anterior surface of the aorta below the celiac artery at the level of the first lumbar vertebra. tmpxe7fu0cj_hp_relaxed.owl superior mesenteric arterial tree|arteria mesenterica superior UMLS:C0162861|galen:SuperiorMesentericArtery|BTO:0002303|GAID:502|EMAPA:18619|EHDAA:3358|EHDAA2:0001949|MESH:D017538|VHOG:0000754|MA:0002005|EHDAA:5313|OpenCyc:Mx4rwE5KipwpEbGdrcN5Y29ycA|FMA:14749|NCIT:C33685 http://upload.wikimedia.org/wikipedia/commons/c/c0/Superior_mesenteric_a.gif|http://upload.wikimedia.org/wikipedia/commons/6/68/Gray1099.png uberon owl:Class Origin: abdominal aorta; branches, inferior pancreaticoduodenal, jejunal, ileal, ileocolic, right colic, and middle colic arteries; distribution: small intestine, proximal half of colon UBERON:0005616 biolink:NamedThing mesenteric artery Arteries which arise from the abdominal aorta and distribute to most of the intestines. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0025465|MESH:D008638|EMAPA:17312|NCIT:C52975|EHDAA:4343|BTO:0000779|EHDAA2:0001123|XAO:0000370|MA:0002003|VHOG:0001117 includes posterior and anterior mesenteric arteries, which branch from the dorsal aorta (see Kardong), and superior and inferior mesenteric arteries uberon owl:Class UBERON:0013501 biolink:NamedThing cloacal sphincter A sphincter muscle that is part of a cloaca. tmpxe7fu0cj_hp_relaxed.owl sphincter cloacae UMLS:C1516658|NCIT:C34129 the muscles of the cloacal sphincter specialise into the perineal muscles in mammals (Gegenbaur, 1883; Popowsky, 1899; Nishi, 1938). uberon owl:Class UBERON:0004590 biolink:NamedThing sphincter muscle A structure, usually a circular muscle, that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning. tmpxe7fu0cj_hp_relaxed.owl sphincter|circular muscle UMLS:C1409894|NCIT:C28381|FMA:75004 uberon owl:Class FMA class is not a subtype of muscle UBERON:0015839 biolink:NamedThing molar epithelium tmpxe7fu0cj_hp_relaxed.owl epithelium of molar|epithelium of molar tooth MA:0003224|EMAPA:32878 uberon owl:Class UBERON:0003843 biolink:NamedThing dental epithelium Epithelium that is part of a developing tooth or dental organ. tmpxe7fu0cj_hp_relaxed.owl tooth epithelium|reduced enamel epithelium|dental epithelia|dental epithelium|odontogenic epithelium MA:0003151|EMAPA:32903|BTO:0001723|VHOG:0001443|AAO:0011027|NCIT:C54296|ZFA:0005134|UMLS:C1709309|XAO:0003203|TAO:0005134 todo - full developmental relationships|see comments for dental organ. uberon owl:Class In the developing molar dentition of the mouse, tooth inductive po- tential resides in the dental epithelium until embryonic day (E)12.5 (3). Thereafter, tooth inductive potential shifts to neural crest-derived dental mesenchyme, which acquires the ability to direct tooth formation in nonodontogenic tissues (3, 4) HP:0011698 biolink:NamedThing Supraventricular tachycardia with a manifest accessory pathway on the septum tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023224 peter 2012-04-10T10:59:45Z human_phenotype owl:Class HP:0011694 biolink:NamedThing Supraventricular tachycardia with a manifest accessory pathway tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023227 peter 2012-04-10T10:38:53Z human_phenotype owl:Class HP:0040172 biolink:NamedThing Abnormality of occipitofrontalis muscle tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073138 HPO:skoehler owl:Class HP:0003011 biolink:NamedThing Abnormality of the musculature Abnormality originating in one or more muscles, i.e., of the set of muscles of body. tmpxe7fu0cj_hp_relaxed.owl Muscular abnormality UMLS:C4021745 HP:0003197|HP:0040290|HP:0003708 human_phenotype owl:Class UBERON:0003329 biolink:NamedThing submucosa of anal canal A submucosa that is part of an anal canal [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl submucosa of anal region|anal canal viewed anatomically submucosa|submucosa of anatomical anal canal|anatomical anal canal submucosa|anal region submucosa|submucosa of anal canal viewed anatomically|anal canal submucosa EMAPA:27227|EMAPA:27535|FMA:85399|EMAPA:27217 uberon owl:Class UBERON:0005427 biolink:NamedThing corneal primordium Portion of tissue that is part of the eye and gives rise to the mature, fully layered cornea. tmpxe7fu0cj_hp_relaxed.owl TAO:0002188|ZFA:0001688 uberon owl:Class UBERON:0013727 biolink:NamedThing notochordal fluid Fluid contained within the notochordal canal. tmpxe7fu0cj_hp_relaxed.owl notochord fluid|portion of notochordal fluid Distinct feature of coelocanths uberon owl:Class HP:0001034 biolink:NamedThing Hypermelanotic macule A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. tmpxe7fu0cj_hp_relaxed.owl Hyperpigmented skin patches|Hyperpigmented macules|Hyperpigmented spots UMLS:C1842774 HP:0007442|HP:0200033|HP:0200031|HP:0100815|HP:0007492|HP:0007491 human_phenotype owl:Class HP:0012733 biolink:NamedThing Macule A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. tmpxe7fu0cj_hp_relaxed.owl Flat, discolored area of skin|Flat, discoloured area of skin UMLS:C0332573|SNOMEDCT_US:112629002 peter 2014-03-23T02:54:25Z human_phenotype owl:Class HP:0009653 biolink:NamedThing Curved thumb phalanx A deviation from the normal straight shape of a thumb phalanx. tmpxe7fu0cj_hp_relaxed.owl Curved thumb bone|Curved phalanges of the thumb UMLS:C4021414 doelkens 2009-01-29T05:29:26Z human_phenotype owl:Class HP:0004095 biolink:NamedThing Curved fingers tmpxe7fu0cj_hp_relaxed.owl Curved fingers UMLS:C4025413 human_phenotype owl:Class UBERON:0004385 biolink:NamedThing epiphysis of radius An epiphysis that is part of a radius [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl radial epiphysis FMA:33770 uberon owl:Class HP:0100297 biolink:NamedThing Increased endomysial connective tissue An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium. tmpxe7fu0cj_hp_relaxed.owl Endomysial fibrosis UMLS:C4022161 doelkens 2010-08-10T02:06:32Z owl:Class HP:0032681 biolink:NamedThing Focal aware cognitive seizure A focal aware cognitive seizure during which awareness is retained throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter HP:0032683|HP:0032881 owl:Class HP:0032682 biolink:NamedThing Focal aware non-motor seizure A focal non-motor seizure in which awareness is retained throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal non-motor aware seizure peter owl:Class UBERON:0004405 biolink:NamedThing distal epiphysis of tibia A distal epiphysis that is part of a tibia [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lower end of tibia|distal end of tibia FMA:33116 uberon owl:Class UBERON:0004383 biolink:NamedThing epiphysis of tibia An epiphysis that is part of a tibia [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl tibial epiphysis EMAPA:37771|MA:0003113|FMA:33112 uberon owl:Class GO:0006705 biolink:NamedThing mineralocorticoid biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0008212 biolink:NamedThing mineralocorticoid metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0011435 biolink:NamedThing Low maternal serum PAPP-A An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023360 Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. peter 2012-03-17T07:51:25Z human_phenotype owl:Class HP:0011436 biolink:NamedThing Abnormal maternal serum screening An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023359 peter 2012-03-17T07:52:25Z human_phenotype owl:Class HP:0031726 biolink:NamedThing Incyclotropia A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other. tmpxe7fu0cj_hp_relaxed.owl 2018-01-14 15:35:57+00:00 peter owl:Class HP:0031776 biolink:NamedThing Cyclotropia A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia). tmpxe7fu0cj_hp_relaxed.owl 2018-01-27 11:38:31+00:00 peter owl:Class HP:0010622 biolink:NamedThing Neoplasm of the skeletal system A tumor (abnormal growth of tissue) of the skeleton. tmpxe7fu0cj_hp_relaxed.owl Neoplasia of the skeletal system|Skeletal tumour|Bone neoplasm|Skeletal tumor UMLS:C4020771|SNOMEDCT_US:442868003|UMLS:C2732838|NCIT:C3262 peter 2010-06-25T08:54:46Z human_phenotype owl:Class UBERON:0013229 biolink:NamedThing eyelid gland Any gland that is part of an eyelid. This includes sebaceous glands (Zeis gland, tarsal gland) and sweat glands (Moll's gland). tmpxe7fu0cj_hp_relaxed.owl gland of eyelid uberon owl:Class UBERON:0004859 biolink:NamedThing eye gland A gland that is part of a eye. The eye is a compound unit which depending on the species may consist of an eyeballs plus associated ducts and integumentary structures. Eye glands therefore include the various types of lacrimal gland, the various types of apocrine and sebaceous glands associated with the eyelid. tmpxe7fu0cj_hp_relaxed.owl eye-associated gland|gland of eye EMAPA:35334|MA:0000267 Examples: harderian gland, accessory lacrimal gland, gland of Moll, gland of Zeis, nictitating membrane glands uberon owl:Class HP:0009947 biolink:NamedThing Duplication of the proximal phalanx of the 2nd finger Partial or complete duplication of the second proximal phalanx of hand. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the proximal phalanx of the 2nd finger|Duplication of the proximal bones of the index finger UMLS:C4021368 doelkens 2009-05-15T01:58:58Z human_phenotype owl:Class GO:0060548 biolink:NamedThing negative regulation of cell death Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. tmpxe7fu0cj_hp_relaxed.owl dph 2009-04-13T01:56:10Z biological_process owl:Class UBERON:0013696 biolink:NamedThing tonsil epithelium The epithelium that forms the surface of the tonsil dips into the underlying connective tissue in numerous places, forming crypts kown as tonsillar crypts. Stratified squamous epithelium, that may be heavily infiltrated by lymphocytes. Epithelial cells are present in the germinal as well as in the periphery of the nodule. tmpxe7fu0cj_hp_relaxed.owl epithelium of tonsil|tonsil epithelial cell CALOHA:TS-2070 uberon owl:Class UBERON:0014477 biolink:NamedThing thoracic skeleton Subdivision of skeletal system that consists of all skeletal elements in the thoracic region of the trunk. In most vertebrates this is the rib cage and sternum. tmpxe7fu0cj_hp_relaxed.owl skeleton of thorax|thoracic skeleton|thoracic part of axial skeleton EHDAA2:0002013|FMA:77169|Wikipedia:Thoracic_skeleton uberon owl:Class HP:0040186 biolink:NamedThing Maculopapular exanthema A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:47725002|SNOMEDCT_US:247471006|UMLS:C0423791 ORCID:0000-0002-5316-1399 owl:Class HP:4000054 biolink:NamedThing Exanthem A widespread rash. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 21:41:36+00:00 An exanthem may be caused by an infection or represent a reaction to a toxin or an immune response and may be accompanied by symptoms such as fever, malaise and headache. robinp owl:Class UBERON:0011222 biolink:NamedThing intra-ocular muscle tmpxe7fu0cj_hp_relaxed.owl intrinsic ocular muscle|intrinsic muscle of eyeball AAO:0010038|EMAPA:18808|FMA:49150 uberon owl:Class Muscles within the eye (bulbus oculi).[AAO] UBERON:0004277 biolink:NamedThing eye muscle A muscle that is part of the eye region. tmpxe7fu0cj_hp_relaxed.owl MA:0000271|AAO:0000156|OpenCyc:Mx8Ngx4rwKSh9pwpEbGdrcN5Y29ycB4rvViTvpwpEbGdrcN5Y29ycB4rvYA8cJwpEbGdrcN5Y29ycA|EMAPA:35335 uberon owl:Class CL:0000818 biolink:NamedThing transitional stage B cell An immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage with the phenotype surface IgM-positive and CD19-positive, and are subject to the process of B cell selection. A transitional B cell migrates from the bone marrow into the peripheral circulation, and then to the spleen. tmpxe7fu0cj_hp_relaxed.owl transitional stage B-lymphocyte|transitional B cell|T1 B cell|transitional stage B lymphocyte|T3 B cell|transitional stage B-cell|T2 B cell This cell type is compatible with the HIPC Lyoplate markers for 'transitional B cell'. cell owl:Class CL:0001201 biolink:NamedThing B cell, CD19-positive A B cell that is CD19-positive. tmpxe7fu0cj_hp_relaxed.owl B-lymphocyte, CD19-positive|B lymphocyte, CD19-positive|B-cell, CD19-positive|CD19+ B cell|CD19-positive B cell https://orcid.org/0000-0001-9990-8331 cell owl:Class HP:0009320 biolink:NamedThing Abnormality of the epiphyses of the 3rd finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of end part of the middle bone of the middle finger UMLS:C4024445 doelkens 2009-01-12T11:07:00Z human_phenotype owl:Class UBERON:0015477 biolink:NamedThing axillary fat pad A fat pad that is part of a axilla. tmpxe7fu0cj_hp_relaxed.owl MA:0003091 uberon owl:Class UBERON:0003916 biolink:NamedThing fat pad A mass of closely packed fat cells (adipose tissue) surrounded by fibrous tissue septa[TMD]. tmpxe7fu0cj_hp_relaxed.owl fat body BTO:0000444|FMA:58616|EMAPA:35340|MA:0002481 uberon owl:Class An accumulation of adipose tissue (fat cells) enclosed in fibrous tissue[BTO]. FMA says isa fascia organ. Note that XAO and AAO have structures called fat pad/body, but these are gonad-associated, so we place them with the gonad-specific subclass HP:0004260 biolink:NamedThing Large hamate bone tmpxe7fu0cj_hp_relaxed.owl Large unciform bone UMLS:C4025385 human_phenotype owl:Class HP:0004259 biolink:NamedThing Abnormality of the hamate bone tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025386 human_phenotype owl:Class UBERON:0001513 biolink:NamedThing skin of pes A zone of skin that is part of a pes [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl skin of foot|skin of hind-paw|foot skin FMA:37834|NCIT:C52750|EMAPA:18504|UMLS:C0222289|MA:0000654 uberon owl:Class CHEBI:29337 biolink:NamedThing azanide tmpxe7fu0cj_hp_relaxed.owl amide|dihydridonitrate(1-)|NH2(-)|azanide -1 H2N InChI=1S/H2N/h1H2/q-1 HYGWNUKOUCZBND-UHFFFAOYSA-N 16.02262 16.01927 [H][N-][H] chebi_ontology owl:Class CHEBI:35106 biolink:NamedThing nitrogen hydride tmpxe7fu0cj_hp_relaxed.owl nitrogen hydrides chebi_ontology owl:Class HP:0025673 biolink:NamedThing Loculated ascites A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection. tmpxe7fu0cj_hp_relaxed.owl Septated ascites peterrobinson owl:Class HP:0001849 biolink:NamedThing Foot oligodactyly A developmental defect resulting in the presence of fewer than the normal number of toes. tmpxe7fu0cj_hp_relaxed.owl Missing toes|Oligodactyly of feet SNOMEDCT_US:249820005|UMLS:C0426934 HP:0001777 human_phenotype owl:Class HP:0012165 biolink:NamedThing Oligodactyly A developmental defect resulting in the presence of fewer than the normal number of digits. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3887496 peter 2013-02-16T10:44:40Z human_phenotype owl:Class UBERON:0007735 biolink:NamedThing metacarpophalangeal joint of manual digit 1 A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 1. tmpxe7fu0cj_hp_relaxed.owl metacarpophalangeal joint of manual digit I|metacarpo-phalangeal joint of digit 1 of fore-paw|metacarpophalangeal joint of digit 1|metacarpophalangeal joint of thumb|metacarpophalangeal joint of first digit of hand FMA:35249|EMAPA:25057 uberon owl:Class UBERON:0005358 biolink:NamedThing ventricle of nervous system A layer in the central nervous system that lines system of communicating cavities in the brain and spinal cord. tmpxe7fu0cj_hp_relaxed.owl ventricular layer|region of wall of ventricular system of neuraxis FMA:242770|EMAPA:35209 uberon owl:Class GO:0060324 biolink:NamedThing face development The biological process whose specific outcome is the progression of a face from an initial condition to its mature state. The face is the ventral division of the head. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009662 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the thumb Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx. tmpxe7fu0cj_hp_relaxed.owl Abnormality of terminal thumb epiphysis|Abnormality of the end part of the outermost bone of the thumb UMLS:C4021410 doelkens 2009-01-29T05:49:31Z HP:0004089 human_phenotype owl:Class HP:0012902 biolink:NamedThing Myotonia of the lower limb Slowed relaxation of muscles in the leg. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022684 peter 2014-06-23T11:18:59Z human_phenotype owl:Class HP:0002486 biolink:NamedThing Myotonia An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. tmpxe7fu0cj_hp_relaxed.owl Delayed relaxation of muscle fibers after contraction|Delayed relaxation of muscle fibres after contraction SNOMEDCT_US:3434004|UMLS:C0027125|MSH:D009222 Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers. HP:0003754|HP:0003632|HP:0003792 human_phenotype owl:Class HP:0020104 biolink:NamedThing Unusual protozoan infection An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 19:21:25+00:00 robinp owl:Class HP:0032101 biolink:NamedThing Unusual infection A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. tmpxe7fu0cj_hp_relaxed.owl 2018-11-04 22:23:03+00:00 peter owl:Class HP:0100590 biolink:NamedThing Rectal fistula The presence of a fistula affecting the rectum. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:80736008|UMLS:C0034884|MSH:D012003 doelkens 2010-12-27T04:11:26Z owl:Class HP:0100589 biolink:NamedThing Urogenital fistula The presence of a fistula affecting the genitourinary system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0853877 doelkens 2010-12-27T04:09:23Z human_phenotype owl:Class HP:0009264 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 4th finger Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the innermost bone of the ring finger UMLS:C4024485 doelkens 2009-01-07T12:12:59Z human_phenotype owl:Class HP:0009396 biolink:NamedThing Enlarged epiphyses of the 4th finger Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the ring finger bones UMLS:C4024394 doelkens 2009-01-13T01:59:12Z human_phenotype owl:Class HP:0100174 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the outermost bone of the 4th toe UMLS:C4022247 doelkens 2010-06-24T04:53:36Z human_phenotype owl:Class HP:0100071 biolink:NamedThing Irregular epiphyses of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the 4th toe bone UMLS:C4022350 doelkens 2010-06-24T09:59:30Z human_phenotype owl:Class GO:0050870 biolink:NamedThing positive regulation of T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of T-lymphocyte activation|up regulation of T cell activation|upregulation of T cell activation|positive regulation of T lymphocyte activation|activation of T cell activation|positive regulation of T-cell activation|up-regulation of T cell activation|stimulation of T cell activation biological_process owl:Class GO:0050863 biolink:NamedThing regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell activation. tmpxe7fu0cj_hp_relaxed.owl regulation of T lymphocyte activation|regulation of T-lymphocyte activation|regulation of T-cell activation biological_process owl:Class HP:0033368 biolink:NamedThing Platypnea A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position. tmpxe7fu0cj_hp_relaxed.owl 2020-12-16 11:55:39+00:00 peter owl:Class UBERON:0000379 biolink:NamedThing tracheal mucosa A mucosa that is part of a respiratory airway. tmpxe7fu0cj_hp_relaxed.owl mucosa of organ of windpipe|trachea mucous membrane|tunica mucosa tracheae|tracheal mucous membrane|tunica mucosa (tracheae)|trachea mucosa of organ|windpipe mucosa of organ|mucosa of trachea|windpipe mucosa|mucous membrane of trachea|mucosa of organ of trachea|mucosa of windpipe|mucous membrane of windpipe|trachea mucosa|windpipe organ mucosa|trachea organ mucosa|windpipe mucous membrane|organ mucosa of trachea|organ mucosa of windpipe SCTID:660006|FMA:7471|BTO:0001390 uberon owl:Class HP:0100444 biolink:NamedThing Curved middle phalanx of the 4th toe A deviation from the normal straight form of the middle phalanx of the fourth toe. tmpxe7fu0cj_hp_relaxed.owl Curved middle bone of 4th toe UMLS:C4022083 human_phenotype owl:Class HP:0010374 biolink:NamedThing Curved 4th toe phalanx A deviation from the normal straight form of one or more phalanges of the fourth toe. tmpxe7fu0cj_hp_relaxed.owl Curved bones of 4th toe|Curved phalanges of the 4th toe UMLS:C4021280 doelkens 2009-07-16T11:51:46Z human_phenotype owl:Class HP:0010628 biolink:NamedThing Facial palsy Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. tmpxe7fu0cj_hp_relaxed.owl Cranial nerve VII palsy|Facial palsy, unilateral or bilateral|Bell's palsy|Facial nerve palsy|VII th cranial nerve palsy|Facial nerve paralysis|Facial muscle weakness of muscles innervated by CN VII|Seventh cranial nerve palsy UMLS:C0376175|MSH:D005158|SNOMEDCT_US:95666008|UMLS:C1858719|SNOMEDCT_US:193093009|MSH:D020330|UMLS:C0427055 Several conditions can cause a facial paralysis, e.g. brain tumor, stroke, and Lyme disease. However, if no specific cause can be identified, the condition is known as Bell's palsy. Named after Scottish anatomist Charles Bell, who first described it. Bell's palsy is the most common acute mononeuropathy (disease involving only one nerve) and is the most common cause of acute facial nerve paralysis. peter 2009-12-06T05:08:30Z HP:0000344|HP:0007212|HP:0002008|HP:0000353|HP:0000296|HP:0200004|HP:0000302|HP:0004670|HP:0002259|HP:0002517 human_phenotype owl:Class HP:0006824 biolink:NamedThing Cranial nerve paralysis tmpxe7fu0cj_hp_relaxed.owl Cranial nerve palsy|Cranial nerve paresis|Cranial nerve palsies SNOMEDCT_US:73013002|MSH:D003389|UMLS:C0151311|UMLS:C4025709 HP:0002377|HP:0001353 human_phenotype owl:Class HP:0031912 biolink:NamedThing Trigeminal anesthesia Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth. tmpxe7fu0cj_hp_relaxed.owl Trigeminal anaesthesia 2018-06-23 13:56:37+00:00 peter owl:Class HP:0031911 biolink:NamedThing Abnormal fifth cranial nerve physiology tmpxe7fu0cj_hp_relaxed.owl 2018-06-23 13:55:25+00:00 peter owl:Class UBERON:0005145 biolink:NamedThing metanephric comma-shaped body The metanephric comma-shaped body is the precursor structure to the metanephric S-shaped body that contributes to the morphogenesis of a nephron in the metanephros[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0004198 biolink:NamedThing comma-shaped body The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron. tmpxe7fu0cj_hp_relaxed.owl CSB ZFA:0005588|EMAPA:27681 uberon owl:Class GO:0050708 biolink:NamedThing regulation of protein secretion Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1903530 biolink:NamedThing regulation of secretion by cell Any process that modulates the frequency, rate or extent of secretion by cell. tmpxe7fu0cj_hp_relaxed.owl regulation of cellular secretion pm 2014-10-08T13:24:59Z biological_process owl:Class HP:0010496 biolink:NamedThing Hypertrophy of the lower limb Abnormal increase in size of the lower limbs (due to an increase of the size of cells). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023803 peter 2009-09-17T11:08:38Z human_phenotype owl:Class HP:0002814 biolink:NamedThing Abnormality of the lower limb An abnormality of the leg. tmpxe7fu0cj_hp_relaxed.owl Lower limb deformities|Abnormality of the lower limb|Abnormality of the leg UMLS:C1096086|SNOMEDCT_US:449715001 human_phenotype owl:Class HP:0001812 biolink:NamedThing Hyperconvex fingernails When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. tmpxe7fu0cj_hp_relaxed.owl Tubular fingernails UMLS:C1844825 HP:0008380 human_phenotype owl:Class HP:0001795 biolink:NamedThing Hyperconvex nail When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity. tmpxe7fu0cj_hp_relaxed.owl Nail overcurvature|Increased nail curvature SNOMEDCT_US:247487009|UMLS:C0423807 No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified. HP:0008413 human_phenotype owl:Class HP:0030218 biolink:NamedThing Punding Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1963933 owl:Class HP:0000733 biolink:NamedThing Stereotypy A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral. tmpxe7fu0cj_hp_relaxed.owl Stereotyped behavior|Stereotypical motor behaviours|Stereotyped, repetitive behavior|Stereotypic behaviors|Stereotyped behaviour|Stereotypic behaviours|Repetitive movements|Stereotypical motor behavior|Stereotyped, repetitive behaviour|Stereotypic behavior|Stereotyped behaviors|Repetitive or self-injurious behavior|Stereotypic behaviour|Stereotyped behaviours|Repetitive or self-injurious behaviour|Stereotypical motor behaviors MSH:D013239|UMLS:C0038273|MSH:D019956|SNOMEDCT_US:5507002|UMLS:C0038271|SNOMEDCT_US:84328007 An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. The behaviour does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps. HP:0008758|HP:0008759 owl:Class HP:0032706 biolink:NamedThing Focal aware cognitive seizure with left-right confusion A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032700 biolink:NamedThing Focal cognitive seizure with left-right confusion A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl Left-right confusion is the inability to distinguish right from left. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. peter owl:Class HP:0001070 biolink:NamedThing Mottled pigmentation Patchy and irregular skin pigmentation. tmpxe7fu0cj_hp_relaxed.owl Stippled pigmentation|Mottled skin coloring|Mottled skin colouring UMLS:C4020879|UMLS:C0860439 HP:0007584 human_phenotype owl:Class UBERON:0003729 biolink:NamedThing mouth mucosa A mucous membrane that lines the mouth. tmpxe7fu0cj_hp_relaxed.owl tunica mucosa oris|oral part of viscerocranial mucosa|mucous membrane of mouth|mouth organ mucosa|oral mucous membrane|mucosa of mouth|mouth mucosa|oral mucosa|mouth mucous membrane|buccal mucosa|mucosal lining of mouth FMA:59660|MESH:D009061|UMLS:C0026639|NCIT:C77637|CALOHA:TS-0716|MA:0002794|BTO:0002860|EMAPA:26937|Wikipedia:Oral_mucosa|GAID:951 this is defined as any mucous membrane of the mouth - including palate, lips, uvula, etc. ncit split mouth/oral mucosa into lip and buccal. In future we may split into masticatory/keratinized (gingiva + hard palate) vs lining/non-keratinized (lips, cheeks, floor of mouth, soft palate). FMA distinguishes between mucosa of mouth and region of mouth (the latter including the buccal mucosa) uberon owl:Class the mucous membrane epithelium of the mouth. It can be divided into three categories: masticatory, lining, and specialized[Wikipedia:Oral_mucosa]. GO:0021576 biolink:NamedThing hindbrain formation The process that gives rise to the hindbrain. This process pertains to the initial formation of a structure from unspecified parts. The hindbrain is the region consisting of the medulla, pons and cerebellum. Areas of the hindbrain control motor and autonomic functions. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:33405 biolink:NamedThing hydracid A hydracid is a compound which contains hydrogen that is not bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). tmpxe7fu0cj_hp_relaxed.owl hydracids|hydracid chebi_ontology owl:Class CHEBI:33608 biolink:NamedThing hydrogen molecular entity tmpxe7fu0cj_hp_relaxed.owl hydrogen molecular entities|hydrogen compounds chebi_ontology owl:Class CHEBI:16811 biolink:NamedThing methionine A sulfur-containing amino acid that is butyric acid bearing an amino substituent at position 2 and a methylthio substituent at position 4. tmpxe7fu0cj_hp_relaxed.owl Methionine|2-amino-4-(methylthio)butanoic acid|Methionin|2-amino-4-(methylsulfanyl)butanoic acid|methionine|2-Amino-4-(methylthio)butyric acid|Racemethionine|alpha-amino-gamma-methylmercaptobutyric acid|metionina|Met|M|Hmet|DL-Methionine 0 C5H11NO2S InChI=1S/C5H11NO2S/c1-9-3-2-4(6)5(7)8/h4H,2-3,6H2,1H3,(H,7,8) FFEARJCKVFRZRR-UHFFFAOYSA-N 149.21238 149.05105 CSCCC(N)C(O)=O KEGG:C01733|UM-BBD_compID:c0094|Gmelin:3117|Wikipedia:Methionine|PMID:22264337|Beilstein:636185|CAS:59-51-8|PMID:16702333|KEGG:D04983|Reaxys:636185|PMID:2543976 CHEBI:6829|CHEBI:14590|CHEBI:25229 chebi_ontology owl:Class CHEBI:33704 biolink:NamedThing alpha-amino acid An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group. tmpxe7fu0cj_hp_relaxed.owl alpha-amino carboxylic acids|Amino acids|Amino acid|alpha-amino acid|alpha-amino acids 0 C2H4NO2R 74.05870 74.02420 NC([*])C(O)=O KEGG:C05167|KEGG:C00045 CHEBI:2642|CHEBI:13779|CHEBI:10208|CHEBI:22442 chebi_ontology owl:Class GO:0032091 biolink:NamedThing negative regulation of protein binding Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. tmpxe7fu0cj_hp_relaxed.owl downregulation of protein binding|down regulation of protein binding|down-regulation of protein binding|inhibition of protein binding biological_process owl:Class CHEBI:36238 biolink:NamedThing 5beta-cholanic acid tmpxe7fu0cj_hp_relaxed.owl (5beta,17beta)-gamma-methylandrostane-17-butanoic acid|ursocholanic acid|5beta-cholan-24-oic acid|(5beta)-cholan-24-oic acid|5beta-cholanoic acid|5beta-cholanic acid 0 C24H40O2 InChI=1S/C24H40O2/c1-16(7-12-22(25)26)19-10-11-20-18-9-8-17-6-4-5-14-23(17,2)21(18)13-15-24(19,20)3/h16-21H,4-15H2,1-3H3,(H,25,26)/t16-,17+,18+,19-,20+,21+,23+,24-/m1/s1 RPKLZQLYODPWTM-LVVAJZGHSA-N 360.57320 360.30283 [H][C@@]12CCCC[C@]1(C)[C@@]1([H])CC[C@]3(C)[C@]([H])(CC[C@@]3([H])[C@]1([H])CC2)[C@H](C)CCC(O)=O Beilstein:3214794|CAS:546-18-9|LIPID_MAPS_instance:LMST04010441 chebi_ontology owl:Class CHEBI:36248 biolink:NamedThing 5beta-cholanic acids Members of the class of cholanic acids based on a 5beta-cholane skeleton. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class UBERON:0005283 biolink:NamedThing tela choroidea A structure found in the walls of the ventricles of the brain, consisting of part of the meninges (pia mater in mammals) plus ependyma[cjm]. tmpxe7fu0cj_hp_relaxed.owl tela chorioidea FMA:242849|TAO:0000447|ZFA:0000447 uberon owl:Class Portion of tissue that is part of the primitive meninx which forms a fold, roofing a ventricle of the brain and supporting the choroid plexus[ZFA:0000447]. Vascularized tela choroidea is choroid plexus. Note that the structure in ZFA may be different HP:0031675 biolink:NamedThing Fascicular left ventricular tachycardia A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG). tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 17:01:47+00:00 Fascicular left ventricular tachycardia occurs predominantly in young males (15-40 years old) without structural heart disease (idiopathic). peter owl:Class HP:0004756 biolink:NamedThing Ventricular tachycardia A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). tmpxe7fu0cj_hp_relaxed.owl Fyler:7160|MSH:D017180|UMLS:C0042514|SNOMEDCT_US:25569003 Ventricular tachycardia (VT) is a potentially life-threatening ventricular arrhythmia that presents as a wide QRS complex tachycardia, and is defined as three or more consecutive QRS complexes with a duration longer than 120 milliseconds (ms) and a rate of 100 beats per minute or more, whereby the complexes have a ventricular origin. VT can be subdivided as follows: (i) sustained VT persists for 30 seconds or more; (ii) non-sustained VT lasts less than 30 seconds; (iii) monomorphic VT displays a uniform QRS morphology; and (iv) polymorphic VT displays QRS morphologies that variy from beat to beat. VT is observed most commonly in individuals with structural heart disease or acute myocardial infarction (MI). VT may also be observed in in the setting of drug toxicity or electrolyte abnormalities or in individuals with Mendelian disease. owl:Class HP:0010154 biolink:NamedThing Irregular epiphysis of the 1st metatarsal tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the 1st long bone of foot UMLS:C4024005 doelkens 2009-05-29T01:24:17Z human_phenotype owl:Class HP:0010118 biolink:NamedThing Irregular epiphyses of the hallux tmpxe7fu0cj_hp_relaxed.owl Irregular end part of big toe bone UMLS:C4024041 doelkens 2009-05-29T01:16:38Z owl:Class GO:0071697 biolink:NamedThing ectodermal placode morphogenesis The process in which the anatomical structures of an ectodermal placode are generated and organized. An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm. tmpxe7fu0cj_hp_relaxed.owl mah 2010-03-02T11:49:51Z biological_process owl:Class GO:0001959 biolink:NamedThing regulation of cytokine-mediated signaling pathway Any process that modulates the frequency, rate or extent of the cytokine mediated signaling pathway. tmpxe7fu0cj_hp_relaxed.owl regulation of cytokine mediated signaling pathway|regulation of cytokine mediated signalling pathway|regulation of cytokine and chemokine mediated signaling pathway biological_process owl:Class GO:0031252 biolink:NamedThing cell leading edge The area of a motile cell closest to the direction of movement. tmpxe7fu0cj_hp_relaxed.owl front of cell|leading edge of cell cellular_component owl:Class GO:0110165 biolink:NamedThing cellular anatomical entity A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. tmpxe7fu0cj_hp_relaxed.owl kmv 2019-08-12T18:01:37Z cellular_component owl:Class UBERON:0010983 biolink:NamedThing levator scapulae pre-muscle mass tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000993 uberon owl:Class HP:0006961 biolink:NamedThing Jerky head movements tmpxe7fu0cj_hp_relaxed.owl Head jerking|Jerking head movements UMLS:C1855568 human_phenotype owl:Class HP:0002457 biolink:NamedThing Abnormal head movements tmpxe7fu0cj_hp_relaxed.owl Abnormal head movements UMLS:C0476217|SNOMEDCT_US:271799000 human_phenotype owl:Class HP:0033610 biolink:NamedThing Subsolid pulmonary nodule Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 22:17:33+00:00 peter owl:Class HP:0033608 biolink:NamedThing Pulmonary nodule Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging. tmpxe7fu0cj_hp_relaxed.owl Spot on the lung 2021-01-30 22:05:25+00:00 peter owl:Class UBERON:0002326 biolink:NamedThing lamina propria of urethra A lamina propria that is part of a urethra [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl urethra lamina propria|lamina propria mucosa of urethra|urethra lamina propria mucosa|lamina propria mucosae of urethra|urethral lamina propria|urethra lamina propria mucosae FMA:85276|EMAPA:37785|MA:0001689 uberon owl:Class UBERON:0003663 biolink:NamedThing hindlimb muscle Any muscle organ that is part of a hindlimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl free lower limb muscle|hind limb muscle organ|muscle organ of hindlimb|muscle of free lower limb|lower limb skeletal muscle|muscle of posterior limb|muscle organ of hind limb|hindlimb muscle organ|muscle organ of inferior member|lower extremity muscle organ|inferior member muscle organ|muscle organ of lower extremity EFO:0001928|AAO:0000222|FMA:37368 uberon owl:Class UBERON:0003661 biolink:NamedThing limb muscle Any muscle organ that is part of a limb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl limb skeletal muscle|limb muscle organ|muscle organ of limb MA:0000692|EMAPA:32700 uberon owl:Class HP:0005156 biolink:NamedThing Hypoplastic left atrium Underdeveloped, small left heart atrium tmpxe7fu0cj_hp_relaxed.owl Left atrium hypoplasia|Underdeveloped left heart atrium UMLS:C1970625|Fyler:3040 human_phenotype owl:Class HP:0025579 biolink:NamedThing Abnormal left atrium morphology Any structural abnormality of the left atrium. tmpxe7fu0cj_hp_relaxed.owl 2017-12-15 23:54:09+00:00 Fyler:3010 HPO:probinson owl:Class HP:0002730 biolink:NamedThing Chronic noninfectious lymphadenopathy A chronic form of lymphadenopathy that is not related to infection. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1858970 human_phenotype owl:Class HP:0002716 biolink:NamedThing Lymphadenopathy Enlargment (swelling) of a lymph node. tmpxe7fu0cj_hp_relaxed.owl Swollen lymph nodes|Lymph node hyperplasia SNOMEDCT_US:30746006|UMLS:C0497156|MSH:D000072281 HP:0002735 owl:Class UBERON:0005432 biolink:NamedThing aortic sac The dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates. tmpxe7fu0cj_hp_relaxed.owl saccus aorticus EHDAA2:0004145|SCTID:361527005|RETIRED_EHDAA2:0000133|EMAPA:36461|FMA:71008|EHDAA:9826 uberon owl:Class the merged ventral aortae of the embryo which supplies blood to the aortic arches[TMD][http://medical-dictionary.thefreedictionary.com/aortic+sac]. GO:0007166 biolink:NamedThing cell surface receptor signaling pathway A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. tmpxe7fu0cj_hp_relaxed.owl cell surface receptor linked signaling pathway|cell surface receptor linked signal transduction|cell surface receptor linked signalling pathway biological_process owl:Class GO:0044283 biolink:NamedThing small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. tmpxe7fu0cj_hp_relaxed.owl small molecule biosynthesis Small molecules in GO include monosaccharides but exclude disaccharides and polysaccharides. jl 2010-01-26T12:06:49Z biological_process owl:Class GO:0009058 biolink:NamedThing biosynthetic process The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. tmpxe7fu0cj_hp_relaxed.owl multicellular organismal biosynthetic process|biosynthesis|single-organism biosynthetic process|formation|synthesis|anabolism Wikipedia:Anabolism jl 2012-10-17T15:52:18Z GO:0044274|GO:0044711 biological_process owl:Class UBERON:0006059 biolink:NamedThing falx cerebri The falx cerebri, also known as the cerebral falx, so named from its sickle-like form, is a strong, arched fold of dura mater which descends vertically in the longitudinal fissure between the cerebral hemispheres. It is narrow in front, where it is attached to the crista galli of the ethmoid; and broad behind, where it is connected with the upper surface of the tentorium cerebelli. Its upper margin is convex, and attached to the inner surface of the skull in the middle line, as far back as the internal occipital protuberance; it contains the superior sagittal sinus. Its lower margin is free and concave, and contains the inferior sagittal sinus. The falx cerebri is known to calcify with age. tmpxe7fu0cj_hp_relaxed.owl cerebral falx EMAPA:18551|FMA:83967|NCIT:C12890|UMLS:C0228120 http://upload.wikimedia.org/wikipedia/commons/f/ff/Falxcerebri.jpg uberon owl:Class HP:0100564 biolink:NamedThing Triplomyelia Triplication of the spinal cord - extremely rare. tmpxe7fu0cj_hp_relaxed.owl Triplication of spinal cord UMLS:C4022022 doelkens 2010-12-21T04:35:22Z human_phenotype owl:Class HP:0100561 biolink:NamedThing Spinal cord lesion tmpxe7fu0cj_hp_relaxed.owl UMLS:C0241224 doelkens 2010-12-21T04:34:03Z human_phenotype owl:Class HP:0003879 biolink:NamedThing Humeral pseudarthrosis tmpxe7fu0cj_hp_relaxed.owl False joint (long bone in upper arm) UMLS:C4025532 human_phenotype owl:Class HP:0031095 biolink:NamedThing Abnormal humerus morphology Any anomaly of the structure of the humerus. tmpxe7fu0cj_hp_relaxed.owl 2017-05-30 01:22:39+00:00 peter owl:Class HP:0100516 biolink:NamedThing Neoplasm of the ureter The presence of a neoplasm of the ureter. tmpxe7fu0cj_hp_relaxed.owl Neoplasia of the ureters|ureter, cancer of MSH:D014516|UMLS:C0041955|UMLS:C0153619|SNOMEDCT_US:363458004|NCIT:C3262|SNOMEDCT_US:126882009 doelkens 2010-12-20T10:35:11Z human_phenotype owl:Class HP:0000069 biolink:NamedThing Abnormality of the ureter An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. tmpxe7fu0cj_hp_relaxed.owl Ureter issue|Ureteral anomalies|Abnormality of the ureters UMLS:C1840382 HP:0006001 human_phenotype owl:Class GO:2001152 biolink:NamedThing negative regulation of renal water transport tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0003073 biolink:NamedThing regulation of systemic arterial blood pressure tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0008217 biolink:NamedThing regulation of blood pressure tmpxe7fu0cj_hp_relaxed.owl owl:Class PATO:0001241 biolink:NamedThing physical object quality A quality which inheres in a continuant. tmpxe7fu0cj_hp_relaxed.owl quality of continuant|monadic quality of an object|monadic quality of a continuant|quality of an object|monadic quality of continuant|quality of a continuant|multiply inhering quality of a physical entity|quality of a single physical entity snap:Quality Relational qualities are qualities that hold between multiple entities. Normal (monadic) qualities such as the shape of a eyeball exist purely as a quality of that eyeball. A relational quality such as sensitivity to light is a quality of that eyeball (and connecting nervous system) as it relates to incoming light waves/particles. PATO:0001238|PATO:0001237 quality owl:Class GO:0090069 biolink:NamedThing regulation of ribosome biogenesis Any process that modulates the rate, frequency or extent of ribosome biogenesis. Ribosome biogenesis is the cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits. tmpxe7fu0cj_hp_relaxed.owl tb 2009-09-11T10:32:17Z biological_process owl:Class HP:0031488 biolink:NamedThing Arteriovenous malformation of the lip A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus. tmpxe7fu0cj_hp_relaxed.owl Atypical connection between arteries and veins 2017-09-18 00:24:29+00:00 peter owl:Class HP:0031486 biolink:NamedThing Vascular malformation of the lip An anomaly of blood vessels located in the lip. tmpxe7fu0cj_hp_relaxed.owl 2017-09-18 00:21:32+00:00 peter owl:Class HP:0410062 biolink:NamedThing Increased level of galactitol in urine An increase in the level of galactitol in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-01-29 22:38:29+00:00 Galactitol is the reduction product of galactose. ORCID:0000-0001-5208-3432 owl:Class HP:0031979 biolink:NamedThing Abnormal urine carbohydrate level Any deviation from the normal concentration of a carbohydrate in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-07-08 12:53:24+00:00 Carbohydrates, also known as saccharides, comprise mono-, d-, and oligosaccharides (substances from endogenous metabolism or from exogenous sources such as diet). Most saccharides except glucose are readily excreted in the urine, reflecting dieteray consuption. Increased sacchardie levels may indicate an enzyme defect or other disease if a certain type of saccharide or a certain profile is found. peter owl:Class UBERON:0004794 biolink:NamedThing esophagus secretion A secretion that is part of a esophagus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl secretion of oesophagus|esophageal secretion|gullet secretion|oesophagus secretion|secretion of esophagus|secretion of gullet NCIT:C52555|MA:0002514|FMA:79662|UMLS:C0227179 uberon owl:Class UBERON:0004638 biolink:NamedThing blood vessel endothelium An endothelium that lines the blood vasculature. Other endothelia may line lymph vessels, the heart. tmpxe7fu0cj_hp_relaxed.owl BTO:0000766|EMAPA:35176|UMLS:C1706972|TAO:0005257|CALOHA:TS-2155|ZFA:0005257|NCIT:C53395|MA:0000709 uberon owl:Class UBERON:0004178 biolink:NamedThing aorta smooth muscle tissue The nonstriated, involuntary muscle tissue located in the wall of the aorta. tmpxe7fu0cj_hp_relaxed.owl aortic smooth muscle|aorta smooth muscle|aorta non-striated muscle CALOHA:TS-0048|UMLS:C1706825|EMAPA:35135|NCIT:C49191|EFO:0002775|MA:0000702|BTO:0001685 uberon owl:Class UBERON:0004237 biolink:NamedThing blood vessel smooth muscle Smooth muscle found within, and composing the majority of the wall of blood vessels. tmpxe7fu0cj_hp_relaxed.owl vascular smooth muscle|blood vessel non-striated muscle|non-striated muscle of blood vessel|vascular smooth muscle tissue|smooth muscle of blood vessel|smooth muscle tissue of blood vessel|blood vessel smooth muscle tissue|blood vessel involuntary muscle|involuntary muscle of blood vessel MA:0000710|Wikipedia:Vascular_smooth_muscle|UMLS:C1519956|TAO:0005321|BTO:0001431|EMAPA:35177|CALOHA:TS-1107|MESH:D009131|NCIT:C33853|ZFA:0005321 UBERON:0010508 uberon owl:Class Vascular smooth muscle contracts or relaxes to both change the volume of blood vessels and the local blood pressure, a mechanism that is responsible for the redistribution of the blood within the body to areas where it is needed (i.e. areas with temporarily enhanced oxygen consumption). Thus the main function of vascular smooth muscle tonus is to regulate the caliber of the blood vessels in the body. Excessive vasoconstriction leads to hypertension, while excessive vasodilation as in shock leads to hypotension. UBERON:0005362 biolink:NamedThing vagus X ganglion The group of sensory neuron cell bodies associated with the vagus nerve. tmpxe7fu0cj_hp_relaxed.owl right glossopharyngeal ganglion|ganglion of vagus nerve|vagal ganglion|vagus neural ganglion|gX|vagus ganglion|vagus X EMAPA:16798|VHOG:0000684|ZFA:0007067|TAO:0007067|FMA:53472|MA:0001081|SCTID:244452001|Wikipedia:Vagus_ganglion uberon owl:Class UBERON:0002956 biolink:NamedThing granular layer of cerebellar cortex The granular layer is the innermost layer of the cerebellar cortex. This layer contains densely packed small neurons, mostly granule cells. Some Golgi cells are found at the outer border. Granule neurons send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites. Mossy fibers from the pontine nuclei in the white matter synapse with granule cell axons, Golgi cell axons and unipolar brush interneuron axons at cerebellar glomeruli in the granule cell layer. tmpxe7fu0cj_hp_relaxed.owl cerebellum granule layer|granule cell layer of cerebellar cortex|stratum granulosum corticis cerebelli|stratum granulosum cerebelli|cerebellar granule cell layer|granular layer of cerebellum|cerebellar granular layer|cerebellar granule layer|cerebellum granule cell layer http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=363|EMAPA:35217|FMA:83140|BTO:0004425|BIRNLEX:779|UMLS:C1708253|CALOHA:TS-1247|NCIT:C49138|MBA:1143|MA:0000993 uberon owl:Class UBERON:0004130 biolink:NamedThing cerebellar layer A cortical cell layer of the cerebellum. Examples: the granular (inner+outer) layer, molecular layer, Purkinje cell layer, and the ventricular layer of the embryo. tmpxe7fu0cj_hp_relaxed.owl gray matter layer of cerebellum|layer of cerebellar cortex|layer of cerebellum|cytoarchitectural part of the cerebellar cortex|cell layer of cerebellar cortex MA:0000201|BIRNLEX:880|NCIT:C49137|EMAPA:35212|FMA:83141|UMLS:C1707522 uberon owl:Class UBERON:0004218 biolink:NamedThing lower leg nerve A nerve that is part of a lower leg [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl MA:0000679|EMAPA:37345 uberon owl:Class UBERON:0003431 biolink:NamedThing leg nerve A nerve that is part of a leg [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nerve of leg EMAPA:37343|MA:0000673 uberon owl:Class GO:0043270 biolink:NamedThing positive regulation of ion transport Any process that activates or increases the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl activation of ion transport|upregulation of ion transport|stimulation of ion transport|up-regulation of ion transport|up regulation of ion transport biological_process owl:Class GO:0005978 biolink:NamedThing glycogen biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0005977 biolink:NamedThing glycogen metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0046136 biolink:NamedThing positive regulation of vitamin metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpxe7fu0cj_hp_relaxed.owl up regulation of vitamin metabolic process|positive regulation of vitamin metabolism|activation of vitamin metabolic process|stimulation of vitamin metabolic process|upregulation of vitamin metabolic process|up-regulation of vitamin metabolic process biological_process owl:Class HP:0005209 biolink:NamedThing Intrahepatic bile duct cysts The presence of cyst of the intrahepatic bile duct. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:235925007|UMLS:C0400991 human_phenotype owl:Class HP:0011040 biolink:NamedThing Abnormality of the intrahepatic bile duct An abnormality of the intrahepatic bile duct. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023577 peter 2011-03-07T07:54:11Z human_phenotype owl:Class CHEBI:38700 biolink:NamedThing organic sodium salt tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:26714 biolink:NamedThing sodium salt tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:1904830 biolink:NamedThing negative regulation of aortic smooth muscle cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of aortic smooth muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl inhibition of aortic smooth muscle cell differentiation|down regulation of aortic smooth muscle cell differentiation|down-regulation of aortic smooth muscle cell differentiation|downregulation of aortic smooth muscle cell differentiation rph 2015-11-24T10:20:47Z biological_process owl:Class GO:1904829 biolink:NamedThing regulation of aortic smooth muscle cell differentiation Any process that modulates the frequency, rate or extent of aortic smooth muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl rph 2015-11-24T10:20:40Z biological_process owl:Class CHEBI:17859 biolink:NamedThing glutaric acid An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid. tmpxe7fu0cj_hp_relaxed.owl 1,3-Propanedicarboxylic acid|pentanedioic acid|Glutarsaeure|Pentanedioic acid|GLUTARIC ACID|Glutaric acid|1,5-pentanedioic acid 0 C5H8O4 InChI=1S/C5H8O4/c6-4(7)2-1-3-5(8)9/h1-3H2,(H,6,7)(H,8,9) JFCQEDHGNNZCLN-UHFFFAOYSA-N 132.11462 132.04226 OC(=O)CCCC(O)=O Reaxys:1209725|LIPID_MAPS_instance:LMFA01170046|PMID:24587932|PMID:24900967|HMDB:HMDB0000661|KEGG:C00489|PDBeChem:GUA|KNApSAcK:C00001184|Beilstein:1209725|Gmelin:26809|Wikipedia:Glutaric_acid|DrugBank:DB03553|PMID:24297153|CAS:110-94-1 CHEBI:24330|CHEBI:43097|CHEBI:5434 chebi_ontology owl:Class HP:0002478 biolink:NamedThing Progressive spastic quadriplegia tmpxe7fu0cj_hp_relaxed.owl Progressive spastic quadriparesis UMLS:C1859736 human_phenotype owl:Class HP:0002191 biolink:NamedThing Progressive spasticity Spasticity that increases in degree with time. tmpxe7fu0cj_hp_relaxed.owl Spasticity, progressive UMLS:C1859520 human_phenotype owl:Class HP:0010858 biolink:NamedThing EEG with hyperventilation-induced epileptiform discharges Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023682 Hyperventilation (overbreathing) is widely used as a diagnostic procedure to activate epileptiform EEG discharges. peter 2010-07-11T08:44:38Z human_phenotype owl:Class HP:0011182 biolink:NamedThing Interictal epileptiform activity Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. tmpxe7fu0cj_hp_relaxed.owl Epileptiform EEG discharges UMLS:C4023491 Epileptiform EEG discharges include small sharp spikes (SSSs), wicket spikes, 14- and 6-Hz positive spikes, phantom spike and waves, psychomotor variant, subclinical rhythmic EEG discharges of adults (SREDA), and midline theta rhythm. hecht 2011-11-19T10:32:25Z human_phenotype owl:Class HP:0009119 biolink:NamedThing Aplasia/Hypoplasia of the frontal sinuses Absence or underdevelopment of frontal sinus. tmpxe7fu0cj_hp_relaxed.owl Abnormally small frontal sinus UMLS:C4024588 peter 2008-04-05T11:00:00Z human_phenotype owl:Class HP:0002687 biolink:NamedThing Abnormality of frontal sinus An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of sinus frontalis|Abnormality of the forehead sinus UMLS:C4025689 human_phenotype owl:Class GO:1902174 biolink:NamedThing positive regulation of keratinocyte apoptotic process Any process that activates or increases the frequency, rate or extent of keratinocyte apoptotic process. tmpxe7fu0cj_hp_relaxed.owl activation of keratinocyte apoptosis|upregulation of keratinocyte apoptosis|activation of keratinocyte apoptotic process|positive regulation of keratinocyte apoptosis|up regulation of keratinocyte apoptosis|up regulation of keratinocyte apoptotic process|up-regulation of keratinocyte apoptosis|up-regulation of keratinocyte apoptotic process|upregulation of keratinocyte apoptotic process rl 2013-05-29T14:36:21Z biological_process owl:Class GO:1902172 biolink:NamedThing regulation of keratinocyte apoptotic process Any process that modulates the frequency, rate or extent of keratinocyte apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of keratinocyte apoptosis rl 2013-05-29T14:36:11Z biological_process owl:Class UBERON:0000328 biolink:NamedThing gut wall The wall of the digestive tract. This encompasses all parts of the digestive tract with the exception of the lumen (cavity). tmpxe7fu0cj_hp_relaxed.owl wall of digestive tract|wall of alimentary tract|wall of gut|digestive tract wall BTO:0000547|FMA:45653 We model the digestive tract as consisting of two parts: the wall and the lumen. uberon owl:Class UBERON:0005250 biolink:NamedThing stomatodeum gland A gland that is part of a stomodeum. tmpxe7fu0cj_hp_relaxed.owl stomatodaeum gland VHOG:0000658 check this uberon owl:Class UBERON:0034907 biolink:NamedThing pineal parenchyma Parenchymal tissue that forms the pineal gland. tmpxe7fu0cj_hp_relaxed.owl NCIT:C41834 uberon owl:Class UBERON:0005158 biolink:NamedThing parenchyma of central nervous system The functional tissue of the central nervous system consisting of neurons and glial cells. tmpxe7fu0cj_hp_relaxed.owl CNS parenchyma|central nervous system parenchyma|parenchyma of CNS|parenchyma of central nervous system uberon owl:Class GO:0033674 biolink:NamedThing positive regulation of kinase activity Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpxe7fu0cj_hp_relaxed.owl up regulation of kinase activity|kinase activator|upregulation of kinase activity|stimulation of kinase activity|up-regulation of kinase activity biological_process owl:Class GO:0051271 biolink:NamedThing negative regulation of cellular component movement Any process that stops, prevents, or reduces the frequency, rate or extent of the movement of a cellular component. tmpxe7fu0cj_hp_relaxed.owl negative regulation of cellular component motion biological_process owl:Class GO:0051270 biolink:NamedThing regulation of cellular component movement Any process that modulates the frequency, rate or extent of the movement of a cellular component. tmpxe7fu0cj_hp_relaxed.owl regulation of cell movement|regulation of cellular component motion biological_process owl:Class HP:0032158 biolink:NamedThing Unusual infection by anatomical site An unusual infection classified by the affected body part. tmpxe7fu0cj_hp_relaxed.owl 2018-12-09 12:17:59+00:00 peter owl:Class GO:0050671 biolink:NamedThing positive regulation of lymphocyte proliferation Any process that activates or increases the rate or extent of lymphocyte proliferation. tmpxe7fu0cj_hp_relaxed.owl activation of lymphocyte proliferation|upregulation of lymphocyte proliferation|up-regulation of lymphocyte proliferation|up regulation of lymphocyte proliferation|stimulation of lymphocyte proliferation biological_process owl:Class GO:0050670 biolink:NamedThing regulation of lymphocyte proliferation Any process that modulates the frequency, rate or extent of lymphocyte proliferation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010773 biolink:NamedThing Partial anomalous pulmonary venous return A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung. tmpxe7fu0cj_hp_relaxed.owl Partial anomalous pulmonary venous connection Fyler:2030|SNOMEDCT_US:68237008|UMLS:C0158634 sdoelken 2010-04-29T10:03:02Z human_phenotype owl:Class HP:0010772 biolink:NamedThing Anomalous pulmonary venous return A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:111323005|UMLS:C0036400|MSH:D012587|SNOMEDCT_US:39905002 sdoelken 2010-04-29T10:02:26Z human_phenotype owl:Class HP:0031527 biolink:NamedThing Intraretinal fluid Edema/fluid accumulating within the retinal layers. tmpxe7fu0cj_hp_relaxed.owl Intra-retinal fluid 2017-09-24 00:47:48+00:00 peter owl:Class HP:0000479 biolink:NamedThing Abnormal retinal morphology A structural abnormality of the retina. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the retina|Retina issue|Retinal disease|Anomaly of the retina|Abnormal retina SNOMEDCT_US:29555009|UMLS:C0035309|UMLS:C0035300|MSH:D012164 HP:0007938 human_phenotype owl:Class HP:0032974 biolink:NamedThing Abnormal cellular composition of bronchoalveolar fluid Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. tmpxe7fu0cj_hp_relaxed.owl Abnormal cell differential of broncho-alveolar fluid peter owl:Class HP:0032973 biolink:NamedThing Abnormal bronchoalveolar lavage fluid morphology Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions. tmpxe7fu0cj_hp_relaxed.owl Red blood cells in the BAL fluid are noted (e.g. present in pulmonary hemorrhage syndromes), but not counted, Similarly epithelial cells are only noted, not included numerically into cell differential. peter owl:Class HP:0008734 biolink:NamedThing Decreased testicular size Reduced volume of the testicle (the male gonad). tmpxe7fu0cj_hp_relaxed.owl Hypoplastic testes|Small testis|Decreased testicular size|Small testes|Testicular hypoplasia UMLS:C0241355|SNOMEDCT_US:276411001 HP:0000043 owl:Class HP:0000050 biolink:NamedThing Hypoplastic male external genitalia Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). tmpxe7fu0cj_hp_relaxed.owl Small male external genitalia|Underdeveloped male genitalia|Hypoplastic male genitalia UMLS:C1852534 HP:0008721|HP:0008710 owl:Class GO:0070942 biolink:NamedThing neutrophil mediated cytotoxicity The directed killing of a target cell by a neutrophil. tmpxe7fu0cj_hp_relaxed.owl neutrophil mediated cell killing mah 2009-10-01T01:49:30Z biological_process owl:Class GO:0002446 biolink:NamedThing neutrophil mediated immunity Any process involved in the carrying out of an immune response by a neutrophil. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CL:0009001 biolink:NamedThing compound eye retinal cell Any cell in the compound eye, a light sensing organ composed of ommatidia. tmpxe7fu0cj_hp_relaxed.owl PMID:12021768|GOC:pr owl:Class BFO:0000004 biolink:NamedThing independent continuant A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything.|b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002]) tmpxe7fu0cj_hp_relaxed.owl IndependentContinuant ic a leg|the bottom right portion of a human torso|a spatial region|an orchestra.|a chair|the interior of your mouth|an organism|a molecule|an atom|a heart (forall (x t) (if (IndependentContinuant x) (exists (r) (and (SpatialRegion r) (locatedInAt x r t))))) // axiom label in BFO2 CLIF: [134-001] |(forall (x t) (if (and (IndependentContinuant x) (existsAt x t)) (exists (y) (and (Entity y) (specificallyDependsOnAt y x t))))) // axiom label in BFO2 CLIF: [018-002] |(iff (IndependentContinuant a) (and (Continuant a) (not (exists (b t) (specificallyDependsOnAt a b t))))) // axiom label in BFO2 CLIF: [017-002] For any independent continuant b and any time t there is some spatial region r such that b is located_in r at t. (axiom label in BFO2 Reference: [134-001])|For every independent continuant b and time t during the region of time spanned by its life, there are entities which s-depends_on b during t. (axiom label in BFO2 Reference: [018-002]) owl:Class CHEBI:33273 biolink:NamedThing polyatomic anion An anion consisting of more than one atom. tmpxe7fu0cj_hp_relaxed.owl polyatomic anions chebi_ontology owl:Class CHEBI:22563 biolink:NamedThing anion A monoatomic or polyatomic species having one or more elementary charges of the electron. tmpxe7fu0cj_hp_relaxed.owl aniones|anions|Anion|anion|Anionen chebi_ontology owl:Class CHEBI:26981 biolink:NamedThing threitol tmpxe7fu0cj_hp_relaxed.owl threo-tetritol|(R*,R*)-1,2,3,4-butanetetrol|rel-(2R,3R)-butane-1,2,3,4-tetrol 0 C4H10O4 122.120 122.05791 PMID:20717558|CAS:7493-90-5|Gmelin:82500 chebi_ontology owl:Class CHEBI:48299 biolink:NamedThing butane-1,2,3,4-tetrol A tetritol that is butane substituted by hydroxy groups at positions 1, 2, 3 and 4. tmpxe7fu0cj_hp_relaxed.owl butane-1,2,3,4-tetrol|Phycitol|1,2,3,4-tetrahydroxybutane|Erythrite|Erythrol|Phycite 0 C4H10O4 InChI=1S/C4H10O4/c5-1-3(7)4(8)2-6/h3-8H,1-2H2 UNXHWFMMPAWVPI-UHFFFAOYSA-N 122.11980 122.05791 OCC(O)C(O)CO CAS:149-32-6|Beilstein:1735878|KEGG:C00503|Reaxys:1735878|CAS:7541-59-5|KEGG:D08915|KNApSAcK:C00001161 chebi_ontology owl:Class GO:2001206 biolink:NamedThing positive regulation of osteoclast development Any process that activates or increases the frequency, rate or extent of osteoclast development. tmpxe7fu0cj_hp_relaxed.owl positive regulation of osteoclast cell development yaf 2011-11-10T10:59:12Z biological_process owl:Class GO:0045672 biolink:NamedThing positive regulation of osteoclast differentiation Any process that activates or increases the frequency, rate or extent of osteoclast differentiation. tmpxe7fu0cj_hp_relaxed.owl up regulation of osteoclast differentiation|stimulation of osteoclast differentiation|up-regulation of osteoclast differentiation|activation of osteoclast differentiation|upregulation of osteoclast differentiation biological_process owl:Class GO:0033603 biolink:NamedThing positive regulation of dopamine secretion Any process that activates or increases the frequency, rate or extent of the regulated release of dopamine. tmpxe7fu0cj_hp_relaxed.owl activation of dopamine secretion|stimulation of dopamine secretion|upregulation of dopamine secretion|up regulation of dopamine secretion|up-regulation of dopamine secretion biological_process owl:Class GO:1903532 biolink:NamedThing positive regulation of secretion by cell Any process that activates or increases the frequency, rate or extent of secretion by cell. tmpxe7fu0cj_hp_relaxed.owl activation of secretion by cell|up regulation of cellular secretion|positive regulation of cellular secretion|up-regulation of secretion by cell|upregulation of cellular secretion|up regulation of secretion by cell|activation of cellular secretion|up-regulation of cellular secretion|upregulation of secretion by cell pm 2014-10-08T13:25:17Z biological_process owl:Class HP:0032393 biolink:NamedThing Diffuse ribbon-like subcortical heterotopia Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 16:06:38+00:00 peter owl:Class HP:0032391 biolink:NamedThing Subcortical heterotopia A form of heterotopia were the mislocalized gray matter is located deep within the white matter. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 16:03:34+00:00 peter owl:Class HP:0003403 biolink:NamedThing EMG: decremental response of compound muscle action potential to repetitive nerve stimulation A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation. tmpxe7fu0cj_hp_relaxed.owl EMG: decrement at repetitive stimulation|EMG: decremental response of CMAP to repetitive nerve stimulation UMLS:C4020841|UMLS:C4021728 The result of this test is abnormal if progressively fewer muscle fibers respond to nerve stimulation during a train of stimuli, thereby yielding a decrementing pattern in the CMAP. HP:0003478|HP:0003430 owl:Class HP:0100285 biolink:NamedThing EMG: impaired neuromuscular transmission An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022168 doelkens 2010-08-10T01:02:59Z owl:Class HP:0009108 biolink:NamedThing Aplasia/Hypoplasia involving the femoral head and neck tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped head and neck of thighbone|Absent/small head and neck of thighbone UMLS:C4024594 peter 2008-04-04T08:44:00Z human_phenotype owl:Class HP:0009103 biolink:NamedThing Aplasia/Hypoplasia involving the pelvis tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped pelvis|Absent/small pelvis UMLS:C4024597 peter 2008-04-04T08:40:00Z human_phenotype owl:Class CHEBI:39417 biolink:NamedThing branched-chain saturated fatty acid Any saturated fatty acid with a carbon side-chain or isopropyl termination. tmpxe7fu0cj_hp_relaxed.owl branched saturated fatty acid|branched saturated fatty acids|branched-chain saturated fatty acids|branched-chain saturated fatty acid chebi_ontology owl:Class CHEBI:35819 biolink:NamedThing branched-chain fatty acid Any fatty acid in which the parent hydrocarbon chain has one or more alkyl substituents; a common component in animal and bacterial lipids. The fatty acyl chain is usually saturated and the substituent a methyl group; however, unsaturated BCFAs are found in marine animals, and branches other than methyl are found in microbial lipids. tmpxe7fu0cj_hp_relaxed.owl branched-chain fatty acids|branched fatty acids|Branched chain fatty acid|branched fatty acid|BCFA|BCFAs KEGG:C05996|PMID:18318842 CHEBI:22919|CHEBI:3166 chebi_ontology owl:Class UBERON:0000992 biolink:NamedThing ovary The gonad of a female organism which contains germ cells. tmpxe7fu0cj_hp_relaxed.owl gonada of female reproductive system|ovum-producing ovary|female organism genitalia gonada|female organism reproductive system gonada|gonada of female organism reproductive system|reproductive system of female organism gonad|gonad of reproductive system of female organism|gonad of genitalia of female organism|ovaries|genitalia of female organism gonad|female organism reproductive system gonad|gonad of female organism reproductive system|gonada of reproductive system of female organism|female reproductive system gonada|animal ovary|female reproductive system gonad|gonada of female organism genitalia|gonada of genitalia of female organism|gonad of female organism genitalia|genitalia of female organism gonada|ovarium|female gonad|reproductive system of female organism gonada|female organism genitalia gonad|gonad of female reproductive system MIAA:0000125|MESH:D010053|EMAPA:17962|EFO:0000973|SCTID:181464007|VHOG:0000251|MA:0000384|AAO:0000371|UMLS:C0029939|ZFA:0000403|FBbt:00004865|BILA:0000125|GAID:367|EHDAA:8124|EV:0100111|TAO:0000403|CALOHA:TS-0730|BSA:0000080|FMA:7209|EHDAA2:0001360|OpenCyc:Mx4rvVi9QJwpEbGdrcN5Y29ycA|Wikipedia:Ovary|NCIT:C12404|XAO:0000258|BTO:0000975 Female:anatomy.png|http://upload.wikimedia.org/wikipedia/commons/d/d4/Gray589.png uberon owl:Class Either of paired female reproductive organs involved in production of ova and female sex hormones.[AAO]|Female reproductive organ.[TAO] (...) while it is likely that Urbilateria lacked a complex somatic reproductive system, it is at present impossible to speculate on whether or not it possessed a true gonad, let alone any other somatic adaptations for reproduction (reference 1); Examination of different vertebrate species shows that the adult gonad is remarkably similar in its morphology across different phylogenetic classes. Surprisingly, however, the cellular and molecular programs employed to create similar organs are not evolutionarily conserved (reference 2).[uncertain][VHOG] ovarian Ovaries of some kind are found in the female reproductive system of many animals that employ sexual reproduction, including invertebrates. However, they develop in a very different way in most invertebrates than they do in vertebrates, and are not truly homologous. Many of the features found in human ovaries are common to all vertebrates, including the presence of follicular cells, tunica albuginea, and so on. However, many species produce a far greater number of eggs during their lifetime than do humans, so that, in fish and amphibians, there may be hundreds, or even millions of fertile eggs present in the ovary at any given time. In these species, fresh eggs may be developing from the germinal epithelium throughout life. Corpora lutea are found only in mammals, and in some elasmobranch fish; in other species, the remnants of the follicle are quickly resorbed by the ovary. In birds, reptiles, and monotremes, the egg is relatively large, filling the follicle, and distorting the shape of the ovary at maturity. Amphibians and reptiles have no ovarian medulla; the central part of the ovary is a hollow, lymph-filled space. The ovary of teleosts is also often hollow, but in this case, the eggs are shed into the cavity, which opens into the oviduct. Although most normal female vertebrates have two ovaries, this is not the case in all species. In birds and platypuses, the right ovary never matures, so that only the left is functional. In some elasmobranchs, the reverse is true, with only the right ovary fully developing. In the primitive jawless fish, and some teleosts, there is only one ovary, formed by the fusion of the paired organs in the embryo UBERON:0003134 biolink:NamedThing female reproductive organ A female organ involved in reproduction. tmpxe7fu0cj_hp_relaxed.owl reproductive structure of female organism|reproductive system organ of female organism|sex organ of female organism|female organism reproductive organ|female organism reproductive structure|reproductive organ of female organism|female reproductive system organ|female organism sex organ|female sex organ|female reproductive gland/organ|female organism reproductive system organ MA:0000544|EMAPA:28540 uberon owl:Class UBERON:0003352 biolink:NamedThing epithelium of midgut An epithelium that is part of a midgut. tmpxe7fu0cj_hp_relaxed.owl midgut epithelium|midgut epithelial tissue|epithelial tissue of midgut BTO:0005053|EMAPA:16569|EHDAA2:0001195|MA:0003205 uberon owl:Class UBERON:0003929 biolink:NamedThing digestive tract epithelium An epithelium that lines the lumen of the digestive tract. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of gut|alimentary tract epithelium|gastrodermis|gut epithelial tissue|digestive tract epithelial tissue|gut epithelium|epithelium of gut|epithelium of digestive tract|epithelial tissue of digestive tract BTO:0000956|EHDAA2:0004567|XAO:0003200|EMAPA:32928|MA:0003201|UMLS:C0836205|NCIT:C12963|TAO:0005123|ZFA:0005123 uberon owl:Class Epithelium lining the lumen of the gut.[TAO] UBERON:0005193 biolink:NamedThing ethmoidal artery One of: anterior or posterior ethmoidal arteries. tmpxe7fu0cj_hp_relaxed.owl ethmoid artery NCIT:C52855|MA:0001949|UMLS:C0226184|EMAPA:37081 uberon owl:Class GO:0045599 biolink:NamedThing negative regulation of fat cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl down regulation of fat cell differentiation|down-regulation of fat cell differentiation|downregulation of fat cell differentiation|inhibition of fat cell differentiation|negative regulation of adipocyte cell differentiation|negative regulation of adipocyte differentiation biological_process owl:Class GO:0050673 biolink:NamedThing epithelial cell proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0015238 biolink:NamedThing pineal complex A cluster in the epithalamus that consists of the pineal body and any associated structures, such as the parapineal gland or the parietal organ. The complex is poorly developed in mammals. tmpxe7fu0cj_hp_relaxed.owl TAO:0001359|ZFA:0001359 uberon owl:Class UBERON:0003862 biolink:NamedThing pedal digit 4 phalanx A phalanx that is part of a foot digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl phalanx of fourth toe|foot digit 4 phalanx|hind limb digit 4 phalanx|foot digit 4 digit long bone|foot digit 4 long bone of digit|fourth toe phalanx|pedal digit IV phalanx|phalanx of foot digit 4|long bone of digit of foot digit 4|digit long bone of foot digit 4 MA:0001384|UMLS:C1708086|NCIT:C52781|EMAPA:19130|FMA:32901 uberon owl:Class UBERON:0015034 biolink:NamedThing pedal digit 4 phalanx endochondral element A pedal digit 4 phalanx bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl pedal digit 4 phalanx element|pedal digit 4 phalanx skeletal element|pedal digit IV phalanx endochondral element uberon owl:Class PATO:0001474 biolink:NamedThing anteverted An oriented quality inhering in a bearer by virtue of the bearer's axis being positioned forward. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0000614 biolink:NamedThing oriented A pattern where all the repeated elements are oriented in the same direction. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0003025 biolink:NamedThing Metaphyseal irregularity Irregularity of the normally smooth surface of the metaphyses. tmpxe7fu0cj_hp_relaxed.owl Irregular wide portion of a long bone|Metaphyseal fraying|Frayed, irregular metaphyses|Irregular metaphyses|Metaphyseal irregularities|Frayed, irregular, metaphyses UMLS:C1838662 HP:0005062|HP:0005058|HP:0005038|HP:0003017|HP:0005032|HP:0005078|HP:0005896|HP:0005065|HP:0004995|HP:0005016 human_phenotype owl:Class HP:0000944 biolink:NamedThing Abnormality of the metaphysis An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the wide portion of a long bone UMLS:C4025814 HP:0006506 owl:Class CHEBI:38337 biolink:NamedThing pyrimidone A pyrimidine carrying one or more oxo substituents. tmpxe7fu0cj_hp_relaxed.owl pyrimidones chebi_ontology owl:Class CHEBI:39447 biolink:NamedThing pyrimidines Any compound having a pyrimidine as part of its structure. tmpxe7fu0cj_hp_relaxed.owl CHEBI:13681|CHEBI:26448 chebi_ontology owl:Class CL:0002009 biolink:NamedThing macrophage dendritic cell progenitor A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages. tmpxe7fu0cj_hp_relaxed.owl MDP tmeehan 2010-01-19T02:51:58Z cell owl:Class CL:0002032 biolink:NamedThing hematopoietic oligopotent progenitor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. tmpxe7fu0cj_hp_relaxed.owl This cell type is intended to be compatible with any vertebrate hematopoietic oligopotent progenitor cell. For mammalian hematopoietic oligopotent progenitor cells known to be lineage-negative, please use the term 'hematopoietic oligopotent progenitor cell' (CL_0001060). tmeehan 2010-01-06T03:43:27Z cell owl:Class UBERON:0003724 biolink:NamedThing musculocutaneous nerve A large branch of the brachial plexus supplying various parts of the upper arm (as flexor muscles) and forearm (as the skin). tmpxe7fu0cj_hp_relaxed.owl casserio's nerve|nervus musculocutaneus FMA:37064|OpenCyc:Mx4rvzp0l5wpEbGdrcN5Y29ycA|GAID:844|MESH:D009138 http://upload.wikimedia.org/wikipedia/commons/a/a7/Nerves_of_the_left_upper_extremity.gif uberon owl:Class GO:1900074 biolink:NamedThing negative regulation of neuromuscular synaptic transmission Any process that stops, prevents or reduces the frequency, rate or extent of neuromuscular synaptic transmission. tmpxe7fu0cj_hp_relaxed.owl inhibition of neuromuscular synaptic transmission|down-regulation of neuromuscular synaptic transmission|downregulation of neuromuscular synaptic transmission|down regulation of neuromuscular synaptic transmission kmv 2012-01-26T10:14:18Z biological_process owl:Class GO:1903441 biolink:NamedThing protein localization to ciliary membrane A process in which a protein is transported to, or maintained in, a location within a ciliary membrane. tmpxe7fu0cj_hp_relaxed.owl protein localisation in ciliary membrane|protein localization in ciliary membrane|protein localisation to ciliary membrane pr 2014-09-16T15:15:39Z biological_process owl:Class GO:0072657 biolink:NamedThing protein localization to membrane A process in which a protein is transported to, or maintained in, a specific location in a membrane. tmpxe7fu0cj_hp_relaxed.owl protein localisation in membrane|protein localization in membrane mah 2011-02-14T02:35:18Z biological_process owl:Class UBERON:0008989 biolink:NamedThing submucosal esophageal gland One of the racemose glands in the walls of the esophagus that in humans are small and serve principally to lubricate the food but in some birds secrete a milky fluid on which the young are fed. tmpxe7fu0cj_hp_relaxed.owl mucous gland of submucosa of esophagus|submocosal esophageal gland|esophageal gland|glandulae oesophageae BTO:0003634|UMLS:C0227178|NCIT:C32536|FMA:9404 http://upload.wikimedia.org/wikipedia/commons/e/e8/Illu_esophageal_layers.jpg uberon owl:Class HP:0041222 biolink:NamedThing Fractured fibula A partial or complete breakage of the fibula. tmpxe7fu0cj_hp_relaxed.owl bone fibula|Broken fibula|Fracture of the fibula|Fibula fracture owl:Class HP:0041235 biolink:NamedThing Fractured hindlimb bone A partial or complete breakage of the hindlimb bone. tmpxe7fu0cj_hp_relaxed.owl bone hindlimb bone owl:Class UBERON:0001604 biolink:NamedThing levator palpebrae superioris The levator palpebrae superioris (or levator muscle of upper eyelid) is the muscle in the orbit that elevates the superior (upper) eyelid. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0224134|FMA:49041|EMAPA:36652|MA:0001272|NCIT:C52802 http://upload.wikimedia.org/wikipedia/commons/e/e8/Eyemuscles.png uberon owl:Class OBO:CARO_0000003 biolink:NamedThing connected anatomical structure tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0002586 biolink:NamedThing Peritonitis Inflammation of the peritoneum. tmpxe7fu0cj_hp_relaxed.owl Inflammation of the peritoneum MSH:D010538|SNOMEDCT_US:48661000|UMLS:C0031154 HP:0100591 human_phenotype owl:Class HP:0045073 biolink:NamedThing Serositis Inflammation in any serous cavity. tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:2000510 biolink:NamedThing positive regulation of dendritic cell chemotaxis Any process that activates or increases the frequency, rate or extent of dendritic cell chemotaxis. tmpxe7fu0cj_hp_relaxed.owl ebc 2011-03-22T10:21:49Z biological_process owl:Class GO:1901655 biolink:NamedThing cellular response to ketone Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ketone stimulus. tmpxe7fu0cj_hp_relaxed.owl pr 2012-11-20T10:55:51Z biological_process owl:Class GO:1901654 biolink:NamedThing response to ketone A response that results in a state of tolerance to ketone. tmpxe7fu0cj_hp_relaxed.owl process resulting in tolerance to ketone pr 2012-11-20T10:55:47Z GO:1990369 biological_process owl:Class GO:1904177 biolink:NamedThing regulation of adipose tissue development Any process that modulates the frequency, rate or extent of adipose tissue development. tmpxe7fu0cj_hp_relaxed.owl regulation of adipogenesis sl 2015-04-29T20:01:01Z biological_process owl:Class CL:0000988 biolink:NamedThing hematopoietic cell A cell of a hematopoietic lineage. tmpxe7fu0cj_hp_relaxed.owl haemopoietic cell|haematopoietic cell|hemopoietic cell FMA:83598|BTO:0000574|FMA:70366|CALOHA:TS-2017 cell owl:Class HP:0025245 biolink:NamedThing Cutaneous cyst A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material. tmpxe7fu0cj_hp_relaxed.owl 2016-12-17 13:11:37+00:00 In contrast to cysts, vesicles, pustules and bullae do not have a complete epithelial lining and are therefore less well demarcated. HPO:probinson owl:Class HP:0011355 biolink:NamedThing Localized skin lesion A lesion of the skin that is located in a specific region rather than being generalized. tmpxe7fu0cj_hp_relaxed.owl Localised skin lesion|Localized skin lesion UMLS:C0850826 peter 2012-03-01T02:37:43Z owl:Class GO:0045932 biolink:NamedThing negative regulation of muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of muscle contraction. tmpxe7fu0cj_hp_relaxed.owl down regulation of muscle contraction|inhibition of muscle contraction|downregulation of muscle contraction|down-regulation of muscle contraction biological_process owl:Class HP:0031166 biolink:NamedThing Eyelid myokymia Involuntary, fine, continuous, undulating contractions of the eyelid. tmpxe7fu0cj_hp_relaxed.owl Orbicularis myokymia|Myokymia orbicularis 2017-06-18 19:03:22+00:00 peter owl:Class HP:0002411 biolink:NamedThing Myokymia Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0684219|MSH:D020385|SNOMEDCT_US:27678003 Myokymia is characterized electrophysiologically by rhythmic or semi-rhythmic bursts of a single motor unit discharging several times a second at a rate of 3-8 Hz. These myokymic discharges are nonsynchronous in different muscles or even in the same muscle, with intervals of 100-200 milliseconds separating individual bursts. The spontaneous discharges are not initiated by voluntary movement, although they may increase with such activity. human_phenotype owl:Class UBERON:0003511 biolink:NamedThing iris blood vessel A blood vessel that is part of a iris [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of iris EMAPA:37387|ZFA:0005568|MA:0001290 uberon owl:Class HP:0003212 biolink:NamedThing Increased circulating IgE level An abnormally increased overall level of immunoglobulin E in blood. tmpxe7fu0cj_hp_relaxed.owl Elevated serum IgE|High immunoglobulin E|Elevated immunoglobulin E UMLS:C0236175 HP:0005433|HP:0005418|HP:0005382 human_phenotype owl:Class HP:0410241 biolink:NamedThing Abnormal circulating IgE level An abnormal deviation from normal levels of IgE immunoglobulin in blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal IgE level in blood 2018-10-12 20:32:27+00:00 owl:Class HP:0002215 biolink:NamedThing Sparse axillary hair Reduced number or density of axillary hair. tmpxe7fu0cj_hp_relaxed.owl Sparse axillary and pubic hair|Limited armpit hair|Sparse scalp, axillary, and pubic hair|Little underarm hair|sparse to absent axillary hair UMLS:C1858574 HP:0004518|HP:0004545|HP:0004514 human_phenotype owl:Class HP:0008070 biolink:NamedThing Sparse hair Reduced density of hairs. tmpxe7fu0cj_hp_relaxed.owl Marked hypotrichosis|Sparse hair|Hypotrichosis|Sparse hair since birth|Decreased hair growth on body|Thin, sparse hair|Decreased hair growth UMLS:C0020678|UMLS:C1837770|MSH:D007039|SNOMEDCT_US:53602002|UMLS:C1860844|MEDDRA:10021126|SNOMEDCT_US:56558005 This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter. peter 2008-04-02T04:11:00Z HP:0004522|HP:0004874|HP:0002551|HP:0001006|HP:0002291|HP:0002237|HP:0004538|HP:0004525 human_phenotype owl:Class HP:0004268 biolink:NamedThing Osteoarthritis of the small joints of the hand tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025381 human_phenotype owl:Class HP:0011794 biolink:NamedThing Embryonal renal neoplasm The presence of an embryonal neoplasm of the kidney that primarily affects children. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023184 peter 2012-04-22T07:44:34Z human_phenotype owl:Class UBERON:0000931 biolink:NamedThing proctodeum Inward fold on the surface of the embryonic ectoderm that develops into an ectodermal terminal part of the digestive tract. tmpxe7fu0cj_hp_relaxed.owl anus porus|embryonic proctodaeum|anal pit|amnioproctodeal invagination|proctodaeum ZFA:0000066|EMAPA:25038|XAO:0001019|FBbt:00000123|VHOG:0000139|AAO:0011087|TAO:0000066|EHDAA2:0000121|NCIT:C34278|UMLS:C0231054 removed WBbt:0006795 'proctodeum' - junction between the alimentary and genital tracts in the male. uberon https://github.com/obophenotype/uberon/issues/685 owl:Class An inward fold on the surface of the embryonic ectoderm that develops into part of the anal passage.[TAO]|Inward fold on the surface of the embryonic ectoderm that develops into part of the anal passage.[AAO] proctodeal UBERON:0016566 biolink:NamedThing pit An roughly circular indentation in a surface. tmpxe7fu0cj_hp_relaxed.owl AEO:0000204 uberon owl:Class HP:0007760 biolink:NamedThing Crystalline corneal dystrophy tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:419395007|SNOMEDCT_US:39662004|UMLS:C0271287|MSH:C535475 human_phenotype owl:Class HP:0007856 biolink:NamedThing Punctate opacification of the cornea Punctate opacification (reduced transparency) of the corneal stroma. tmpxe7fu0cj_hp_relaxed.owl Punctate corneal opacities UMLS:C4021565 HP:0008004 human_phenotype owl:Class HP:0001139 biolink:NamedThing Choroideremia tmpxe7fu0cj_hp_relaxed.owl UMLS:C0008525|SNOMEDCT_US:75241009|MSH:D015794 human_phenotype owl:Class HP:0000610 biolink:NamedThing Abnormal choroid morphology Any structural abnormality of the choroid. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the choroid|Choroid disease MSH:D015862|UMLS:C0008521|UMLS:C4025836 HP:0001122 human_phenotype owl:Class HP:0007363 biolink:NamedThing Aplasia/Hypoplasia of the pyramidal tract tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024903 peter 2008-03-31T05:41:00Z owl:Class HP:0002977 biolink:NamedThing Aplasia/Hypoplasia involving the central nervous system Absence or underdevelopment of tissue in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped central nervous system tissue|Aplasia/Hypoplasia involving the CNS UMLS:C4025665 peter 2008-03-31T05:13:00Z HP:0001323 owl:Class HP:0006584 biolink:NamedThing Small abnormally formed scapulae tmpxe7fu0cj_hp_relaxed.owl Small abnormally formed shoulder blade|Small abnormally formed scapula UMLS:C1861226 HP:0006629 human_phenotype owl:Class HP:0000882 biolink:NamedThing Hypoplastic scapulae Underdeveloped scapula. tmpxe7fu0cj_hp_relaxed.owl Small shoulder blade|Hypoplastic scapula|Small scapula|Small scapulae|Scapular hypoplasia|Short scapulae UMLS:C1846434 HP:0006616|HP:0000906 human_phenotype owl:Class HP:0000183 biolink:NamedThing Difficulty in tongue movements tmpxe7fu0cj_hp_relaxed.owl Difficulty in tongue movements|Hypokinesia of the tongue|Lingual hypokinesia|Difficulty in lingual movements UMLS:C1853406|UMLS:C4280676 human_phenotype owl:Class HP:0000182 biolink:NamedThing Movement abnormality of the tongue tmpxe7fu0cj_hp_relaxed.owl Movement abnormality of the tongue|Abnormality of lingual movement UMLS:C4025882 human_phenotype owl:Class GO:0061138 biolink:NamedThing morphogenesis of a branching epithelium The process in which the anatomical structures of a branched epithelium are generated and organized. tmpxe7fu0cj_hp_relaxed.owl dph 2010-05-25T09:05:34Z biological_process owl:Class GO:0001763 biolink:NamedThing morphogenesis of a branching structure The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes. tmpxe7fu0cj_hp_relaxed.owl branching morphogenesis biological_process owl:Class GO:2000291 biolink:NamedThing regulation of myoblast proliferation Any process that modulates the frequency, rate or extent of myoblast proliferation. tmpxe7fu0cj_hp_relaxed.owl mah 2010-12-20T10:34:26Z biological_process owl:Class HP:0030688 biolink:NamedThing Increased glucagon level An elevated concentration of glucagon in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:131106002|UMLS:C1295677 owl:Class HP:0030687 biolink:NamedThing Abnormal glucagon level A deviation from the normal concentration of glucagon in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073129 Glucagon is a 29-amino acid polypeptide that is manufactured by the alpha cells of the pancreatic islets. It plays a key role in glucose counterregulation in response to hypoglycemia. Hypoglycemia is normally a powerful stimulator of glucagon secretion. owl:Class HP:0007657 biolink:NamedThing Diffuse nuclear cataract Opacity of the entire lens nucleus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024821 human_phenotype owl:Class HP:0100018 biolink:NamedThing Nuclear cataract A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. tmpxe7fu0cj_hp_relaxed.owl Yellowish cloudy center of lens|Yellowish cloudy centre of lens UMLS:C0392557|SNOMEDCT_US:53889007 doelkens 2010-05-28T11:34:45Z HP:0007672|HP:0008024|HP:0007781 human_phenotype owl:Class UBERON:0010360 biolink:NamedThing pharyngeal arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a entire pharyngeal arch associated mesenchyme. tmpxe7fu0cj_hp_relaxed.owl arch mesenchyme from head mesenchyme|branchial arch mesenchyme from head mesenchyme|head mesenchyme derived arch mesenchyme Partially implements https://github.com/obophenotype/uberon/wiki/The-neural-crest NC meeting scheme uberon owl:Class HP:0002813 biolink:NamedThing Abnormality of limb bone morphology Any abnormality of bones of the arms or legs. tmpxe7fu0cj_hp_relaxed.owl Arm and/or leg bone differences|Abnormal shape of limb bone|Limb abnormality UMLS:C4082761 human_phenotype owl:Class HP:0032924 biolink:NamedThing Focal impaired awareness verbal automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032909 biolink:NamedThing Focal impaired awareness automatism seizure A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0001704 biolink:NamedThing Tricuspid valve prolapse One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle. tmpxe7fu0cj_hp_relaxed.owl Fyler:1733|MSH:D014263|SNOMEDCT_US:253383003|UMLS:C0040962 human_phenotype owl:Class HP:0001702 biolink:NamedThing Abnormal tricuspid valve morphology Any structural anomaly of the tricuspid valve. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the tricuspid valve UMLS:C4025753|EPCC:06.01.00 HP:0031440 human_phenotype owl:Class HP:0032941 biolink:NamedThing Intense psychological distress to cues Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032936 biolink:NamedThing Intrusion symptom Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context. tmpxe7fu0cj_hp_relaxed.owl Re-experiencing symptom Vivid intrusive memories, flashbacks, or nightmares, typically accompanied by strong and overwhelming emotions such as fear or horror, and strong physical sensations. peter owl:Class HP:0031661 biolink:NamedThing Abnormal second heart sound Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 16:06:41+00:00 peter owl:Class HP:0031657 biolink:NamedThing Abnormal heart sound Any abnormal noise generated by the beating heart. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 15:56:24+00:00 The first two heart sounds, S1 and S2, define ventricular systole. S1 comprises the closure of the mitral and tricuspid valves. S2 is produced by aortic and pulmonic valve closure. peter owl:Class GO:0071248 biolink:NamedThing cellular response to metal ion Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metal ion stimulus. tmpxe7fu0cj_hp_relaxed.owl cellular response to metal|cellular response to heavy metal mah 2009-12-03T02:46:31Z biological_process owl:Class GO:0071241 biolink:NamedThing cellular response to inorganic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an inorganic substance stimulus. tmpxe7fu0cj_hp_relaxed.owl mah 2009-12-03T02:35:49Z biological_process owl:Class UBERON:0004099 biolink:NamedThing joint space of elbow Joint cavity shared by all the joints of the elbow. The elbow joint is a compound joint that actually comprises three separate joints: the joints connecting the upper and lower arm: 1) Articulatio humero-ulnaris and 2) Articulatio humero-radialis as well as the proximal joint connecting the forarm bones: 3) Articulatio radio-ulnaris proximalis. All three share a joint cavity which is highly sinuated/scalloped/coved. Joint spaces of the elbow summarizes the joint cavity shared by all three adjoining joints of the elbow joint. tmpxe7fu0cj_hp_relaxed.owl synovial cavity of elbow joint FMA:38911 uberon owl:Class HP:0004845 biolink:NamedThing Acute monocytic leukemia The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation. tmpxe7fu0cj_hp_relaxed.owl Acute monoblastic leukaemia|Acute monocytic leukaemia|Acute monoblastic leukemia|AMoL|AML-M5 SNOMEDCT_US:22331004|UMLS:C0023465|MSH:D007948|SNOMEDCT_US:413441006 HP:0004833 human_phenotype owl:Class HP:0002488 biolink:NamedThing Acute leukemia A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). tmpxe7fu0cj_hp_relaxed.owl Acute leukaemia|Acute blood cancer|Acute leukemias SNOMEDCT_US:91855006|UMLS:C4280572|SNOMEDCT_US:24072005|UMLS:C0085669 peter 2008-03-27T10:32:00Z human_phenotype owl:Class UBERON:0001440 biolink:NamedThing forelimb skeleton The collection of all skeletal elements in a free forelimb region. Excludes the pectoral girdle. tmpxe7fu0cj_hp_relaxed.owl skeleton of pectoral limb|forelimb skeleton|skeleton of upper limb|bones of upper limb|upper limb skeleton|set of bones of upper limb|ossa membri superioris|wing skeleton|skeleton of free upper limb|pectoral limb skeleton|free upper limb skeleton|skeleton of forelimb|fore limb skeleton VHOG:0001256|EMAPA:32623|EHDAA2:0002222|AAO:0000202|VSAO:0000151|FMA:24142|XAO:0003061 TODO - find a home for: FMA:24139 ! skeleton of upper limb uberon owl:Class Skeletal structure of the paired, anterior appendages.[AAO] relationship type change: differentiates_from lateral plate mesoderm (AAO:0010574) CHANGED TO: develops_from lateral plate mesoderm (UBERON:0003081)[AAO] Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] UBERON:0004381 biolink:NamedThing skeleton of limb The collection of all skeletal elements in an individual limb. tmpxe7fu0cj_hp_relaxed.owl set of bones of limb|free limb skeleton|limb skeleton EHDAA2:0002221|EMAPA:32702|VSAO:0000300 uberon owl:Class Skeletal subdivision that is part of the limb.[VSAO] EHDAA2 considers hip and shoulder joints part of limb skeleton. UBERON:0000163 biolink:NamedThing embryonic cloaca Endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm[MP]. tmpxe7fu0cj_hp_relaxed.owl cloaca EHDAA2:0000256|EMAPA:27573|EHDAA:4895 this class represents the embryonic form of the cloaca, as found in both mammals and non-mammals. uberon owl:Class UBERON:0000162 biolink:NamedThing cloaca Common chamber into which the intestines and excretory system opens. Arises during development in all vertebrates, but in many it becomes subdivided, lost or incorporated into other structures. tmpxe7fu0cj_hp_relaxed.owl vent|cloacal chamber VHOG:0001186|XAO:0000244|GAID:1206|NCIT:C34127|UMLS:C0008987|AAO:0000095|ZFA:0005781|MESH:D002988 adding df link to embryonic cloaca leads to a cycle in uberon-simple, as cloaca is a suberclass of embryonic cloaca uberon owl:Class Anatomical structure which is the common receptacle for the alimentary canal, Wolffian ducts, oviducts, and the bladder.[AAO]|A common passage for fecal, urinary, and reproductive discharge in most lower vertebrates as well as the terminal end of the hindgut before division into rectum, bladder, and genital primordia in mammalian embryos. [TFD][VHOG] A cloaca is apparently a primitive vertebrate feature because it occurs in most primitive gnathostomes and persists in the embryos of almost all vertebrates.[well established][VHOG] cloacal Human beings only have an embryonic cloaca, which is split up into separate tracts during the development of the urinary and reproductive organs hindgut endoderm and proctodeal ectoderm. HP:3000008 biolink:NamedThing Abnormality of mylohyoid muscle An abnormality of a mylohyoid muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073217 vasilevs 2015-02-26T03:43:17Z human_phenotype owl:Class HP:0000301 biolink:NamedThing Abnormality of facial musculature An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). tmpxe7fu0cj_hp_relaxed.owl Facial muscle issue|Abnormality of facial muscles UMLS:C4025865 Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure. human_phenotype owl:Class UBERON:0001087 biolink:NamedThing pleural fluid Transudate contained in the pleural cavity. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Pleural_fluid|BTO:0003080|FMA:12273|ncithesaurus:Pleural_Fluid|MAT:0000500|MA:0002532 uberon owl:Class UBERON:0036244 biolink:NamedThing secretion of serous membrane A transudate found in the serous sac. tmpxe7fu0cj_hp_relaxed.owl serous sac fluid|serous fluid FMA:20932 uberon owl:Class UBERON:0004456 biolink:NamedThing entire sense organ system Sum of all sensory systems in an organism. tmpxe7fu0cj_hp_relaxed.owl sense organ system FMA:78499 uberon owl:Class note the distinct between entire sensory system and individual system. this reconciles is_a and part_of distinctions between ssAOs UBERON:0000467 biolink:NamedThing anatomical system Multicellular, connected anatomical structure that has multiple organs as parts and whose parts work together to achieve some shared function. tmpxe7fu0cj_hp_relaxed.owl body system|anatomical systems|connected anatomical system|system|organ system WBbt:0005746|NCIT:C12919|MA:0000003|SCTID:278195005|AEO:0000011|HAO:0000011|EMAPA:16103|FMA:7149|VHOG:0001725|AAO:0000007|FBbt:00004856|OpenCyc:Mx4rCWM0QCtDEdyAAADggVbxzQ|XAO:0003002|TGMA:0001831|CALOHA:TS-2088|EV:0100000|WBbt:0005763|UMLS:C0460002|EHDAA2:0003011|BIRNLEX:14|BILA:0000011|CARO:0000011|BSA:0000049|TAO:0001439|ZFA:0001439|EHDAA:392|galen:AnatomicalSystem|Wikipedia:Organ_system uberon owl:Class HP:0033541 biolink:NamedThing Irreversible airflow obstruction Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL. tmpxe7fu0cj_hp_relaxed.owl Irreversible pulmonary obstruction 2021-01-20 14:56:25+00:00 peter owl:Class HP:0006536 biolink:NamedThing Airway obstruction Obstruction of conducting airways of the lung. tmpxe7fu0cj_hp_relaxed.owl Obstructive lung disease|Pulmonary obstruction UMLS:C0600260|MSH:D008173 HP:0006512 owl:Class GO:0046852 biolink:NamedThing positive regulation of bone remodeling Any process that activates or increases the frequency, rate or extent of bone remodeling. tmpxe7fu0cj_hp_relaxed.owl up regulation of bone remodeling|stimulation of bone remodeling|up-regulation of bone remodeling|upregulation of bone remodeling|activation of bone remodeling biological_process owl:Class GO:0034105 biolink:NamedThing positive regulation of tissue remodeling Any process that activates or increases the frequency, rate, or extent of tissue remodeling. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0097014 biolink:NamedThing ciliary plasm All of the contents of a cilium, excluding the plasma membrane surrounding the cilium. tmpxe7fu0cj_hp_relaxed.owl microtubule-based flagellar matrix|microtubule-based flagellar cytoplasm|cilium plasm|cilium cytoplasm|microtubule-based flagellum cytoplasm|microtubule-based flagellum matrix|cilial cytoplasm|ciliary cytoplasm Note that we deem cilium and microtubule-based flagellum to be equivalent. Also, researchers consider the composition of both the plasm and the membrane of the cilium to be detectably different from that in the non-ciliary cytosol and plasma membrane (e.g. in terms of calcium ion concentration, membrane lipid composition, and more). For this reason, the term "ciliary plasm" is not linked to "cytoplasm". pr 2011-03-23T01:52:31Z cellular_component owl:Class GO:0032838 biolink:NamedThing plasma membrane bounded cell projection cytoplasm All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0006802 biolink:NamedThing Abnormal anterior horn cell morphology Any anomaly of the anterior horn cell. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the anterior horn cells|Abnormality of the anterior horn cell|Anterior horn cell disease|Anomaly of the anterior horn cells MSH:D016472|UMLS:C0154681|UMLS:C4020812|SNOMEDCT_US:85672005 Anterior horn cells are efferent neurons that passes from the central nervous system or a ganglion toward or to a muscle. They conduct nerve impulses that lead to movement of muscles. human_phenotype owl:Class HP:0000759 biolink:NamedThing Abnormal peripheral nervous system morphology A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). tmpxe7fu0cj_hp_relaxed.owl Peripheral nervous system disease|Abnormal peripheral nervous system structure MSH:D010523|UMLS:C4025831|UMLS:C0031117|SNOMEDCT_US:302226006|SNOMEDCT_US:42658009 The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves. HP:0003483 owl:Class HP:0007249 biolink:NamedThing Decreased number of small peripheral myelinated nerve fibers tmpxe7fu0cj_hp_relaxed.owl Decreased number of small peripheral myelinated nerve fibres UMLS:C4024916 human_phenotype owl:Class HP:0003380 biolink:NamedThing Decreased number of peripheral myelinated nerve fibers A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). tmpxe7fu0cj_hp_relaxed.owl Loss of myelinated fibers|Decreased number of peripheral myelinated nerve fibres|Decreased number of large and small myelinated fibers|Loss of myelinated fibres|Decreased number of large and small myelinated fibres UMLS:C1858285 This finding can be demonstrated by nerve biopsy. HP:0007320|HP:0003386|HP:0007093|HP:0007322|HP:0007135|HP:0007177|HP:0003385 human_phenotype owl:Class HP:0001677 biolink:NamedThing Coronary artery atherosclerosis Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. tmpxe7fu0cj_hp_relaxed.owl Coronary atherosclerosis|Plaque build-up in arteries supplying blood to heart|Coronary disease SNOMEDCT_US:414024009|MSH:D003324|SNOMEDCT_US:53741008|UMLS:C1956346 Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction. HP:0004929|HP:0005138 human_phenotype owl:Class HP:0002621 biolink:NamedThing Atherosclerosis A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. tmpxe7fu0cj_hp_relaxed.owl Plaque build-up in arteries|Atherosclerotic cardiovascular disease|Narrowing and hardening of arteries UMLS:C4280569|UMLS:C0004153|MSH:D050197|SNOMEDCT_US:38716007 Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon. human_phenotype owl:Class HP:0003308 biolink:NamedThing Cervical subluxation A partial dislocation of one or more intervertebral joints in the cervical vertebral column. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1846798 owl:Class HP:0003319 biolink:NamedThing Abnormality of the cervical spine Any abnormality of the cervical vertebral column. tmpxe7fu0cj_hp_relaxed.owl Cervical spine abnormalities|Abnormal cervical spine|Cervical vertebral anomalies|Disorder of cervical vertebra|Cervical vertebral abnormalities|Abnormality of the cervical vertebrae|Abnormality of cervical vertebra UMLS:C1852464 HP:0004587 owl:Class GO:0002704 biolink:NamedThing negative regulation of leukocyte mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte mediated immunity. tmpxe7fu0cj_hp_relaxed.owl downregulation of leukocyte mediated immunity|down regulation of leukocyte mediated immunity|down-regulation of leukocyte mediated immunity|negative regulation of leucocyte mediated immunity|negative regulation of immune cell mediated immunity|inhibition of leukocyte mediated immunity biological_process owl:Class HP:0100674 biolink:NamedThing Vaginal hematocele tmpxe7fu0cj_hp_relaxed.owl UMLS:C1456401 "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. doelkens 2010-12-30T01:36:39Z human_phenotype owl:Class HP:0000045 biolink:NamedThing Abnormality of the scrotum tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025895 human_phenotype owl:Class GO:1905306 biolink:NamedThing positive regulation of cardiac myofibril assembly Any process that activates or increases the frequency, rate or extent of cardiac myofibril assembly. tmpxe7fu0cj_hp_relaxed.owl up regulation of cardiac myofibril morphogenesis|activation of cardiac myofibril development|up-regulation of heart myofibril assembly|up-regulation of cardiac myofibril morphogenesis|activation of cardiac myofibril morphogenesis|activation of cardiac myofibril assembly|up regulation of cardiac myofibril development|upregulation of cardiac myofibril morphogenesis|positive regulation of cardiac myofibril morphogenesis|upregulation of cardiac myofibril development|upregulation of heart myofibril assembly|up regulation of cardiac myofibril assembly|upregulation of cardiac myofibril assembly|positive regulation of cardiac myofibril development|up-regulation of cardiac myofibril assembly|positive regulation of heart myofibril assembly|up regulation of heart myofibril assembly|up-regulation of cardiac myofibril development|activation of heart myofibril assembly rl 2016-07-06T10:02:07Z biological_process owl:Class UBERON:0010582 biolink:NamedThing pedal digit 3 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a pedal digit 3 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl pedal digit III phalanx pre-cartilage condensation|foot digit 3 phalanx pre-cartilage condensation|hind limb digit 3 phalanx pre-cartilage condensation EHDAA2:0002051|EMAPA:17730 uberon owl:Class UBERON:0015033 biolink:NamedThing pedal digit 3 phalanx endochondral element A pedal digit 3 phalanx bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl pedal digit 3 phalanx skeletal element|pedal digit 3 phalanx element|pedal digit III phalanx endochondral element uberon owl:Class HP:0012263 biolink:NamedThing Immotile cilia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855672 peter 2013-04-07T10:11:17Z human_phenotype owl:Class HP:0012262 biolink:NamedThing Abnormal ciliary motility Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022983 Ciliated epithelial cells bear approximately 200 motile (9 + 2) cilia that move with both intracellular and intercellular synchrony. The pattern of beat in 9 + 2 motile cilia occurs in a waveform having a forward effective stroke followed by a return stroke. The direction of stroke is a function of the directional orientation of the central microtubules. In addition to moving in synchrony, individual cilia in normal cells are very plastic and move fluidly, sometimes deforming briefly upon encountering resistance and/or particles being transported over the mucosal surface. Cilia are embedded in a watery periciliary fluid of low viscosity, which facilitates the rapid beat cycle to move the more viscous overlying layer of mucus. Ciliary beat frequency ranges from approximately 8-20 Hz under normal conditions but may be accelerated by exposure to irritants such as tobacco smoke. peter 2013-04-07T10:10:35Z human_phenotype owl:Class GO:2001153 biolink:NamedThing positive regulation of renal water transport tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0030874 biolink:NamedThing Oxygen desaturation on exertion Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa. tmpxe7fu0cj_hp_relaxed.owl O2 desaturation on exertion UMLS:C4280731 owl:Class HP:0012418 biolink:NamedThing Hypoxemia An abnormally low level of blood oxygen. tmpxe7fu0cj_hp_relaxed.owl Low blood oxygen level|Hypoxia UMLS:C0700292|MSH:D000860|SNOMEDCT_US:389087006 Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value. peter 2013-11-10T05:07:07Z owl:Class HP:0012294 biolink:NamedThing Abnormal occipital bone morphology Abnormality of the occipital bone of the skull. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the occipital bone UMLS:C4022964 peter 2013-04-11T06:21:12Z owl:Class HP:0000929 biolink:NamedThing Abnormal skull morphology An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the skull|Abnormality of the skull bones UMLS:C0235942 human_phenotype owl:Class HP:0025571 biolink:NamedThing Christmas tree cataract A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. tmpxe7fu0cj_hp_relaxed.owl 2017-12-14 13:58:00+00:00 HPO:probinson owl:Class HP:0000518 biolink:NamedThing Cataract A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. tmpxe7fu0cj_hp_relaxed.owl Clouding of the lens of the eye|Lens opacities|Cloudy lens|Lens opacity|Cataracts SNOMEDCT_US:193570009|SNOMEDCT_US:128306009|MSH:D002386|SNOMEDCT_US:247053007|Fyler:4865|UMLS:C0086543|UMLS:C1510497 Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). HP:0007825|HP:0010700|HP:0001113 human_phenotype owl:Class UBERON:0006508 biolink:NamedThing interosseous muscle of autopod Any of the muscles of the autopod region that lie between metacarpal or metatarsal bones. tmpxe7fu0cj_hp_relaxed.owl m. interosseous|interosseous|interossei|interosseus muscle uberon owl:Class HP:0025353 biolink:NamedThing Anti-multiple nuclear dots antibody positivity A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells. tmpxe7fu0cj_hp_relaxed.owl Anti-MND antibodies 2017-02-13 00:25:10+00:00 Sp100 is the main antigenic target of MND reactivity. Anti-MND activity can be seen in primary biliary cirrhosis and in other conditions. Anti-sp100 antibodies are directed against sp100 antigen found within nuclear bodies; large protein complexes in the nucleus that may have a role in cell growth and differentiation. Anti-sp100 antibodies are found in approximately 20-30% of patients diagnosed with primary biliary cirrhosis (PBC). HPO:probinson owl:Class HP:0032147 biolink:NamedThing Erythromelalgia Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet. tmpxe7fu0cj_hp_relaxed.owl 2018-12-02 12:02:08+00:00 Warmth, ambulation, physical exercise, sitting, leg dependence and wearing shoes or gloves can provoke and aggravate symptoms while immersion in ice/cold water, uncovering affected areas, ventilation and elevation can ameliorate these symptoms. Pain attacks usually start with an itchy-like feeling and then progress to a severe burning sensation as was reported by most patients, with the durations of which ranging from several minutes to hours and even days. Erythromelalgia can be a Mendelian trait or can be triggered by polycythemia vera, lymphoproliferative disorders, hypertension, and hyperviscosity. peter owl:Class HP:0012531 biolink:NamedThing Pain An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. tmpxe7fu0cj_hp_relaxed.owl Pain SNOMEDCT_US:22253000|MSH:D010146|UMLS:C0030193 peter 2013-12-15T09:38:08Z owl:Class GO:0002608 biolink:NamedThing negative regulation of myeloid dendritic cell antigen processing and presentation Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid dendritic cell antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl inhibition of myeloid dendritic cell antigen processing and presentation|down regulation of myeloid dendritic cell antigen processing and presentation|down-regulation of myeloid dendritic cell antigen processing and presentation|downregulation of myeloid dendritic cell antigen processing and presentation biological_process owl:Class GO:0032402 biolink:NamedThing melanosome transport The directed movement of melanosomes into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0032401 biolink:NamedThing establishment of melanosome localization The directed movement of a melanosome to a specific location. tmpxe7fu0cj_hp_relaxed.owl establishment of melanosome localisation biological_process owl:Class CHEBI:32628 biolink:NamedThing leucinium An alpha-amino-acid cation that is the conjugate acid of leucine, arising from protonation of the amino group. tmpxe7fu0cj_hp_relaxed.owl leucinium|1-carboxy-3-methylbutan-1-aminium|leucine cation|H2leu(+) +1 C6H14NO2 InChI=1S/C6H13NO2/c1-4(2)3-5(7)6(8)9/h4-5H,3,7H2,1-2H3,(H,8,9)/p+1 ROHFNLRQFUQHCH-UHFFFAOYSA-O 132.18090 132.10191 CC(C)CC([NH3+])C(O)=O Gmelin:1651836 chebi_ontology owl:Class CHEBI:33719 biolink:NamedThing alpha-amino-acid cation tmpxe7fu0cj_hp_relaxed.owl alpha-amino-acid cation|alpha-amino acid cations|alpha-amino-acid cations chebi_ontology owl:Class GO:0050942 biolink:NamedThing positive regulation of pigment cell differentiation Any process that activates or increases the frequency, rate or extent of pigment cell differentiation. tmpxe7fu0cj_hp_relaxed.owl upregulation of pigment cell differentiation|activation of pigment cell differentiation|stimulation of pigment cell differentiation|up regulation of pigment cell differentiation|up-regulation of pigment cell differentiation biological_process owl:Class HP:0004277 biolink:NamedThing Fractured hand bones tmpxe7fu0cj_hp_relaxed.owl Broken hand bones|Fractured hand bones SNOMEDCT_US:20511007|UMLS:C0435632 human_phenotype owl:Class GO:0006767 biolink:NamedThing water-soluble vitamin metabolic process The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water. tmpxe7fu0cj_hp_relaxed.owl water-soluble vitamin metabolism biological_process owl:Class GO:0006766 biolink:NamedThing vitamin metabolic process The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems. tmpxe7fu0cj_hp_relaxed.owl vitamin metabolism biological_process owl:Class GO:0060537 biolink:NamedThing muscle tissue development The progression of muscle tissue over time, from its initial formation to its mature state. Muscle tissue is a contractile tissue made up of actin and myosin fibers. tmpxe7fu0cj_hp_relaxed.owl dph 2009-04-10T08:05:37Z biological_process owl:Class HP:0012278 biolink:NamedThing Abnormal circulating serine concentration Any deviation from the normal concentration of serine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022972 peter 2013-04-07T03:57:10Z human_phenotype owl:Class HP:0010894 biolink:NamedThing Abnormal circulating serine family amino acid concentration Any deviation from the normal concentration of a serine family amino acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of serine family amino acid metabolism UMLS:C4023671 peter 2010-11-30T05:21:41Z human_phenotype owl:Class GO:0040020 biolink:NamedThing regulation of meiotic nuclear division tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0051445 biolink:NamedThing regulation of meiotic cell cycle tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0071396 biolink:NamedThing cellular response to lipid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. tmpxe7fu0cj_hp_relaxed.owl mah 2009-12-11T04:37:10Z biological_process owl:Class UBERON:0001476 biolink:NamedThing deltoid A muscle of shoulder which attaches to the scapula, clavicle and humerus.[FMA,generalized]. tmpxe7fu0cj_hp_relaxed.owl deltoid muscle|deltoideus|deltoideus muscle|common shoulder muscle|musculus deltoideus|m. deltoideus EMAPA:18177|AAO:0010716|MA:0002286|FMA:32521|EHDAA2:0000339|VHOG:0000846|EFO:0001412|UMLS:C0224234|NCIT:C32446|OpenCyc:Mx4rvVjdc5wpEbGdrcN5Y29ycA We use a generic definition that includes the deltoideus as represented in AAO: 'Muscle which originates as three heads, the pars externalis, pars clavicularis, and pars scapularis. The pars externalis originates from the lateral border of the omosternum and inserts on the distal portion of the humerus. The pars clavicularis originates from the ventro-lateral surface of the clavicle and inserts on the deltoid crest of the humerus. The pars scapularis originates from the lateral surface of the clavicle and inserts on the deltoid crest of the humerus'. Kardong: Dorsal group http://upload.wikimedia.org/wikipedia/commons/9/93/Deltoideus.png uberon owl:Class Muscle which originates as three heads, the pars externalis, pars clavicularis, and pars scapularis. The pars externalis originates from the lateral border of the omosternum and inserts on the distal portion of the humerus. The pars clavicularis originates from the ventro-lateral surface of the clavicle and inserts on the deltoid crest of the humerus. The pars scapularis originates from the lateral surface of the clavicle and inserts on the deltoid crest of the humerus.[AAO] UBERON:0004199 biolink:NamedThing S-shaped body The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron. tmpxe7fu0cj_hp_relaxed.owl SSB|stage II nephron ZFA:0005589|EMAPA:27756 TODO uberon owl:Class HP:0008873 biolink:NamedThing Disproportionate short-limb short stature A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. tmpxe7fu0cj_hp_relaxed.owl Disproportionate short limb dwarfism|Brachymelic dwarfism|Short-limbed dwarfism|Short stature, disproportionate short-limb|Short limb dwarfism|Short stature, disproportionate short limb|Dwarfism, short-limbed|Micromelic dwarfism|Short limb dwarfism, disproportionate|Short-limb dwarfism UMLS:C1849937 A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionatley affected. Note that brachymelia is a general term refering to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs). HP:0008869|HP:0008881|HP:0008914|HP:0008912|HP:0001523|HP:0008858|HP:0003509|HP:0008889|HP:0008880|HP:0003505|HP:0008928|HP:0008875 human_phenotype owl:Class HP:0003498 biolink:NamedThing Disproportionate short stature A kind of short stature in which different regions of the body are shortened to differing extents. tmpxe7fu0cj_hp_relaxed.owl Short stature, disproportionate|Short stature, severe disproportionate UMLS:C0878659|UMLS:C1846797 HP:0008900|HP:0008895 human_phenotype owl:Class GO:0030856 biolink:NamedThing regulation of epithelial cell differentiation Any process that modulates the frequency, rate or extent of epithelial cell differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:2000026 biolink:NamedThing regulation of multicellular organismal development Any process that modulates the frequency, rate or extent of multicellular organismal development. tmpxe7fu0cj_hp_relaxed.owl tb 2010-08-05T11:25:59Z biological_process owl:Class HP:0009735 biolink:NamedThing Spinal neurofibromas Neurofibromas originating in the spine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024217 Spinal neurofibromas can affect the spinal cord or the spinal nerve roots. Spinal neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels. peter 2009-01-31T11:19:24Z HP:0007077 human_phenotype owl:Class HP:0001067 biolink:NamedThing Neurofibromas The presence of multiple cutaneous neurofibromas. tmpxe7fu0cj_hp_relaxed.owl multiple neurofibromas|Neurofibromata|Neurofibromatosis NCIT:C3272|MSH:D017253|UMLS:C0162678|SNOMEDCT_US:81669005|SNOMEDCT_US:19133005 HP:0007612|HP:0007386|HP:0006746 human_phenotype owl:Class GO:0061299 biolink:NamedThing retina vasculature morphogenesis in camera-type eye The process in which the vasculature of the retina is generated and organized. tmpxe7fu0cj_hp_relaxed.owl retinal vasculature morphogenesis dph 2010-09-06T03:28:25Z biological_process owl:Class HP:0002836 biolink:NamedThing Bladder exstrophy Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall. tmpxe7fu0cj_hp_relaxed.owl Ectopia vesicae UMLS:C0005689|MSH:D001746|SNOMEDCT_US:61758007 Exstrophy of the bladder can be associated with epispadias and bifid penis or in females with bifid clitoris, a bifid uterus, and a septated vagina, each of which should be coded separately. human_phenotype owl:Class HP:0025487 biolink:NamedThing Abnormality of bladder morphology Any structural anomaly of the bladder. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 17:07:03+00:00 HPO:probinson owl:Class UBERON:7500094 biolink:NamedThing tubercle of calcaneus A raised projection on the calcaneus. tmpxe7fu0cj_hp_relaxed.owl calcaneal tubercle|trochlear process of calcaneus 2021-08-04 00:25:01+00:00 uberon owl:Class HP:0020204 biolink:NamedThing Tubulointerstitial bacterial infiltration Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. tmpxe7fu0cj_hp_relaxed.owl Renal tubulointerstitial bacterial organisms Tubulointerstitial bacteria can be ascending or vascuolcentric/blood-born. This finding can be associated with neutrophil rich infiltrates. robinp 2019-12-23 16:29:36+00:00 owl:Class HP:0032635 biolink:NamedThing Tubulointerstitial microganismal infiltration Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0002937 biolink:NamedThing Hemivertebrae Absence of one half of the vertebral body. tmpxe7fu0cj_hp_relaxed.owl Hemi-vertebrae|Hemivertebra|Missing part of vertebrae UMLS:C0265677|SNOMEDCT_US:68359008 Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect. human_phenotype owl:Class HP:0003422 biolink:NamedThing Vertebral segmentation defect An abnormality related to a defect of vertebral separation during development. tmpxe7fu0cj_hp_relaxed.owl Abnormal spinal segmentation UMLS:C0432163|SNOMEDCT_US:205455005 The vertebral column derives from somites, transient paired segments of mesoderm that surround the neural tube in the early embryo. The formation of the vertebrar involves many processes including resegmentation of the rostral and caudal regions of adjacent somites that then fuse to form vertebral elements. Disruption of these processes can a cause of severe segmentation defects of the vetebrae. The frequency of segmentation defects of the vetebra has been estimated at 0.5 of 1000 births. The range of segmentation defects includes left-right uneven formation of somites that results in hemivertebrae or wedge vertebrae. Incomplete segmentation can result in fused segments such as block vertebrae. A failure of the process of resegmentation and migration of the sclerotomal compartment can result in a failure of midline fusion, such as butterlfy vertebrae. HP:0005705 human_phenotype owl:Class NCBITaxon:7898 biolink:NamedThing Actinopterygii tmpxe7fu0cj_hp_relaxed.owl Osteichthyes|ray-finned fishes|bony fishes|fish|Actinopterygi|fishes GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:117571 biolink:NamedThing Euteleostomi tmpxe7fu0cj_hp_relaxed.owl bony vertebrates GC_ID:1 NCBITaxon:40673 ncbi_taxonomy owl:Class HP:0007731 biolink:NamedThing Chorioretinal dysplasia Abnormal development of the choroid and retina. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024809 human_phenotype owl:Class HP:0000532 biolink:NamedThing Abnormal chorioretinal morphology An abnormality of the choroid and retina. tmpxe7fu0cj_hp_relaxed.owl Chorioretinal abnormality UMLS:C4025844 The choroid is the vascular layer of the eye, located between the retina and the sclera. HP:0007888|HP:0001145 human_phenotype owl:Class HP:0010259 biolink:NamedThing Cone-shaped epiphyses of the middle phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Cone-shaped epiphyses of middle phalanges|Cone-shaped end part of the middle hand bones UMLS:C1860828 doelkens 2009-07-06T04:24:15Z HP:0006033|HP:0006058 human_phenotype owl:Class HP:0010244 biolink:NamedThing Abnormality of the epiphyses of the middle phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the middle hand bones UMLS:C4023955 doelkens 2009-07-06T04:21:32Z human_phenotype owl:Class UBERON:0004215 biolink:NamedThing back nerve A nerve that is part of a back [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nerve of back EMAPA:37268|MA:0000497 uberon owl:Class UBERON:0006056 biolink:NamedThing posterior surface of head tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class MAXO:0000727 biolink:NamedThing intravascular ultrasonography An invasive procedure in which sound waves (called ultrasound) are bounced off of vascular tissues from within the vessel and the echoes produce a picture (sonogram). tmpxe7fu0cj_hp_relaxed.owl diagnostic intravascular ultrasound|IVUS|intravascular sonography|medical intravascular ultrasonography|intravascular ultrasound 2020-07-16 14:31:24+00:00 NCIT:C99535 owl:Class HP:0010005 biolink:NamedThing Partial duplication of the middle phalanges of the hand A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the middle bones of hand UMLS:C4024115 doelkens 2009-05-26T03:55:29Z human_phenotype owl:Class HP:0009999 biolink:NamedThing Partial duplication of the phalanx of hand A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of hand bones UMLS:C4024120 doelkens 2009-05-26T02:30:35Z human_phenotype owl:Class HP:0030439 biolink:NamedThing Anal canal adenocarcinoma An adenoma carcinoma that originates in the anal canal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1332259|NCIT:C2852 Differentiating true anal canal adenocarcinoma from low rectal adenocarcinoma can be challenging. Most anal canal adenocarcinomas originate from anal glands, but cases developing in chronic tracts from fistula in ano are described. Multiple factors, including infection with HPV and HIV, history of receptive anal intercourse, smoking, and immunosuppression have been identified as risk factors. Clinical features include anal pain, induration of the anal canal, or abscess formation and a palpable lump. owl:Class HP:0040275 biolink:NamedThing Adenocarcinoma of the large intestine A malignant epithelial tumor with a glandular organization that originates in the large intestine. tmpxe7fu0cj_hp_relaxed.owl NCIT:C2852|SNOMEDCT_US:408645001|UMLS:C1319315 ORCID:0000-0002-5316-1399 owl:Class HP:0031640 biolink:NamedThing Abnormal radial artery morphology Any structural anomaly of the radial artery. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 13:30:31+00:00 peter owl:Class HP:0011004 biolink:NamedThing Abnormal systemic arterial morphology An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. tmpxe7fu0cj_hp_relaxed.owl Systemic artery abnormality|Abnormal systemic artery morphology|Abnormality of the systemic arterial tree|Arterial abnormalities Fyler:2600|SNOMEDCT_US:234119001|UMLS:C0151489|UMLS:C4021205 peter 2011-02-16T08:46:49Z HP:0005114|HP:0002620 human_phenotype owl:Class CHEBI:26447 biolink:NamedThing pyrimidinemonocarboxylic acid tmpxe7fu0cj_hp_relaxed.owl pyrimidinemonocarboxylic acids chebi_ontology owl:Class UBERON:0010379 biolink:NamedThing superior tarsal muscle The superior tarsal muscle is a smooth muscle adjoining the levator palpebrae superioris muscle that helps to raise the upper eyelid. tmpxe7fu0cj_hp_relaxed.owl the superior tarsal muscle|Mueller's muscle|musculus tarsalis superior|Muller's muscle|Müller's muscle|mueller muscle FMA:49058 http://upload.wikimedia.org/wikipedia/commons/6/6f/Gray894.png declaring this to be both smooth muscle and part of the LPS leads to a disjointness violation (smooth muscle and striated muscle) uberon owl:Class HP:0009535 biolink:NamedThing Aplasia of the 2nd finger Absent 2nd (index) finger. tmpxe7fu0cj_hp_relaxed.owl Absent index finger|Aplasia of the index finger|Absent index finger phalanges UMLS:C4021453 doelkens 2009-01-19T04:18:22Z HP:0004106 human_phenotype owl:Class HP:0009380 biolink:NamedThing Aplasia of the fingers Aplasia of one or more fingers. tmpxe7fu0cj_hp_relaxed.owl Absent fingers SNOMEDCT_US:71358006|UMLS:C0728895 doelkens 2009-01-13T01:05:32Z HP:0004093 human_phenotype owl:Class HP:0025174 biolink:NamedThing Irregular septal thickening on pulmonary HRCT Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture. tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 19:31:03+00:00 HPO:probinson owl:Class HP:0030879 biolink:NamedThing Interlobular septal thickening Presence of thickening of the interlobular septa of the lungs as seen on a CT scan. tmpxe7fu0cj_hp_relaxed.owl Septal thickening (pulmonary CT finding)|Peripheral lines (pulmonary CT finding)|Short lines (pumonary CT finding)|Septal lines (pulmonary CT finding)|Interlobular lines (pulmonary CT finding)|Interlobular septal thickening on pulmonary HRCT UMLS:C4280727 Interlobular septa are 10-20nm long structures at the border of the secondary pulmonary lobules and which are usually perpendicular to the pleura in the periphery of the lung. Interlobular septa are composed of connective tissue and contain pulmonary venules and lymphatics. Diseases that affect one of the components of the interlobular septa may lead to thickening of the septa, which makes the visible on computed tomography (CT) scans. Some of the diseases that may be associated with this phenotypic feature are pulmonary edema, pulmonary lymphangitis carcinomatosis, leukemic or lymphomic involvement of the lung, diffuse alveolar hemorrhage, Nieman-Pick disease, and pneumonia. owl:Class UBERON:0018405 biolink:NamedThing inferior alveolar nerve tmpxe7fu0cj_hp_relaxed.owl inferior dental nerve FMA:53243 uberon owl:Class HP:0410177 biolink:NamedThing Abnormal glucose-6-phosphate dehydrogenase level in blood An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal G6PD level in blood 2018-05-21 17:54:53+00:00 owl:Class HP:0410176 biolink:NamedThing Abnormal glucose-6-phosphate dehydrogenase level An anomaly in the level of glucose-6-phosphate dehydrogenase. tmpxe7fu0cj_hp_relaxed.owl Abnormal G6PD level 2018-05-21 17:49:08+00:00 owl:Class NBO:0002169 biolink:NamedThing regulation of consumption behavior "Any process that modulates the frequency, rate or extent of consumption behavior, the specific actions or reactions of an organism in response to external or internal stimuli." [NBOC:GVG] tmpxe7fu0cj_hp_relaxed.owl George Gkoutos owl:Class NBO:0001786 biolink:NamedThing regulation of behavior "Any process that modulates the frequency, rate or extent of behavior, the specific actions or reactions of an organism in response to external or internal stimuli." [GO:0050795] GO:0050795 tmpxe7fu0cj_hp_relaxed.owl George Gkoutos owl:Class HP:0100073 biolink:NamedThing Pseudoepiphyses of the 4th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022348 doelkens 2010-06-24T09:59:30Z human_phenotype owl:Class HP:0010335 biolink:NamedThing Abnormality of the epiphyses of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the 4th toe bone UMLS:C4023897 doelkens 2009-07-16T11:41:21Z human_phenotype owl:Class HP:0033416 biolink:NamedThing Hip adductor weakness Reduced ability to bring the leg toward the midline of the body. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 16:43:25+00:00 peter owl:Class HP:0003749 biolink:NamedThing Pelvic girdle muscle weakness Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. tmpxe7fu0cj_hp_relaxed.owl Hip girdle muscle weakness|Hip girdle weakness|Pelvic girdle weakness|Hip-girdle muscle weakness UMLS:C0427064|SNOMEDCT_US:249941003 HP:0008999|HP:0009036|HP:0003692 human_phenotype owl:Class HP:0010729 biolink:NamedThing Cherry red spot of the macula Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula. tmpxe7fu0cj_hp_relaxed.owl Macular cherry red spot UMLS:C2216370 sdoelken 2010-04-20T11:14:11Z human_phenotype owl:Class HP:0000630 biolink:NamedThing Abnormal retinal artery morphology tmpxe7fu0cj_hp_relaxed.owl Abnormality of retinal arteries|Retinal arterial abnormality UMLS:C4021802 human_phenotype owl:Class HP:0031570 biolink:NamedThing Tessier number 0 facial cleft A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension. tmpxe7fu0cj_hp_relaxed.owl Tessier facial cleft number 0 2017-10-14 12:22:09+00:00 peter owl:Class HP:0100629 biolink:NamedThing Midline facial cleft A congenital malformation with a cleft (gap or opening) in the midline of the face. tmpxe7fu0cj_hp_relaxed.owl Midline facial cleft UMLS:C4022007 Midline facial clefts correspond to Tessier number 0,14, and 30. doelkens 2010-12-29T02:23:01Z human_phenotype owl:Class HP:0020117 biolink:NamedThing Hypoplastic dermoepidermal hemidesmosomes Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. tmpxe7fu0cj_hp_relaxed.owl With this feature, the intracellular attachment plates may be thinner than usualler or separated into small, triangular segments. The thickness of the hemidesmosomes may be less than usual. robinp 2019-07-02 14:49:12+00:00 owl:Class HP:0032449 biolink:NamedThing Abnormal dermoepidermal hemidesmosome morphology An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane. tmpxe7fu0cj_hp_relaxed.owl 2019-03-03 18:24:45+00:00 Hemidesmosomes (HDs) are highly specialized integrin-mediated epithelial attachment structures that make cells firmly adhere to the extracellular matrix by establishing a link between the underlying basement membrane (BM) and the internal mechanical stress-resilient keratin intermediate filament (IF) network. Although HDs are defined by their ultrastructural appearance, two types of HDs, type I and II, can be distinguished on the basis of their protein components. Classical type I HDs, found in stratified and pseudostratified epithelia, for example in the epidermis, consist in five major components, namely integrin alpha6beta4, plectin isoform 1a (P1a), tetraspanin CD151, bullous pemphigoid antigen (BPAG)1 isoform e (BPAG1e, also called BP230) and BPAG2 (also called BP180 or type XVII collagen). Type II HDs, found in simple epithelia such as that of the intestine, consist of integrin alpha6beta4 and plectin and lack the two BP antigens. peter owl:Class UBERON:0000946 biolink:NamedThing cardial valve A membranous fold of the heart that prevents reflux of fluid. tmpxe7fu0cj_hp_relaxed.owl heart valves|valve of heart|valvule|heart valve|cardiac valve|stomodaeal valve OpenCyc:Mx4rv8oyuJwpEbGdrcN5Y29ycA|MA:0000086|BTO:0000564|GAID:176|ZFA:0005065|VHOG:0000818|EMAPA:17869|NCIT:C12729|MESH:D006351|EV:0100024|UMLS:C0018826|FMA:7110|XAO:0004126|galen:HeartValve|TAO:0005065 uberon owl:Class One of the four structures within the heart that prevent backflow of blood by opening and closing with each heartbeat. The valves include two semilunar valves, the aortic and pulmonary; the mitral or bicuspid valve; and the tricuspid valve. The valves permit blood flow in only one direction. [TFD][VHOG] Extensive conservation of valve developmental mechanisms also has been observed among vertebrate species including chicken, mouse, and human.[well established][VHOG] Rector et al: One might be tempted to define 'heart valve' equivalently to 'valve in the heart', and 'valve' as a 'structure which functions as a valve'. But this combination results in the 'foramen ovale' being classified as a kind of 'heart valve', since it is undoubtedly located in the heart and functions as a valve CHEBI:16235 biolink:NamedThing guanine A 2-aminopurine carrying a 6-oxo substituent. tmpxe7fu0cj_hp_relaxed.owl guanine|GUANINE|2-Amino-6-hydroxypurine|G|2-amino-1,9-dihydro-6H-purin-6-one|2-amino-6-oxopurine|Gua|Guanine 0 C5H5N5O InChI=1S/C5H5N5O/c6-5-9-3-2(4(11)10-5)7-1-8-3/h1H,(H4,6,7,8,9,10,11) UYTPUPDQBNUYGX-UHFFFAOYSA-N 151.126 151.04941 C12=C(N=C(NC1=O)N)NC=N2 PMID:22770225|DrugBank:DB02377|CAS:73-40-5|Beilstein:147911|PDBeChem:GUN|Gmelin:431879|KEGG:C00242|KNApSAcK:C00001501|PMID:8070089|Reaxys:147911|Wikipedia:Guanine|HMDB:HMDB0000132|MetaCyc:GUANINE CHEBI:5563|CHEBI:24443|CHEBI:14371|CHEBI:14372|CHEBI:42948 chebi_ontology owl:Class CHEBI:26386 biolink:NamedThing purine nucleobase A nucleobase whose skeleton is derived from purine. tmpxe7fu0cj_hp_relaxed.owl a purine nucleobase|purine nucleobases|purine bases|purine nucleobase 0 C5H3N4R2 119.104 119.03577 C1(NC(=NC=2NC=NC12)*)=* KEGG:C15587 chebi_ontology owl:Class GO:0051704 biolink:NamedThing multi-organism process tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:17368 biolink:NamedThing hypoxanthine A purine nucleobase that consists of purine bearing an oxo substituent at position 6. tmpxe7fu0cj_hp_relaxed.owl HYPOXANTHINE|Purine-6-ol|9H-purin-6(1H)-one|Hyp|Hypoxanthine|purin-6(1H)-one|hypoxanthine|6-oxopurine|1,7-dihydro-6H-purin-6-one|6(1H)-purinone 0 C5H4N4O InChI=1S/C5H4N4O/c10-5-3-4(7-1-6-3)8-2-9-5/h1-2H,(H2,6,7,8,9,10) FDGQSTZJBFJUBT-UHFFFAOYSA-N 136.11162 136.03851 O=c1[nH]cnc2nc[nH]c12 Gmelin:464558|DrugBank:DB04076|MetaCyc:HYPOXANTHINE|Wikipedia:Hypoxanthine|PMID:14253484|PMID:23670363|KEGG:C00262|PMID:22735334|PMID:8016081|Reaxys:5811|PMID:1557408|HMDB:HMDB0000157|CAS:68-94-0|YMDB:YMDB00555|PDBeChem:HPA|Beilstein:5811|PMID:23400363|KNApSAcK:C00001502|ECMDB:ECMDB00157 CHEBI:5841|CHEBI:43237|CHEBI:14431|CHEBI:24762 chebi_ontology owl:Class CHEBI:25810 biolink:NamedThing oxopurine tmpxe7fu0cj_hp_relaxed.owl oxopurines chebi_ontology owl:Class UBERON:0004637 biolink:NamedThing otic capsule The capsule surrounding the inner ear mechanism. tmpxe7fu0cj_hp_relaxed.owl auditory capsule|periotic capsule|otic capsule endochondral element|otic capsule skeletal element|otic region|periotic|otic capsule element|otic capsule VHOG:0000854|AAO:0010143 developmental relationships need to be checked uberon owl:Class Skeletal elements surrounding the membranous labyrinth of the inner ear. Sensory capsules anterolateral to and confluent with occipital arch.[AAO]|The cartilage capsule surrounding the inner ear mechanism; in the embryos of higher vertebrates, it is cartilaginous at first but later becomes bony. [Biology_online][VHOG] relationship loss: part_of occipito-petrosal (AAO:0010831)[AAO]|relationship loss: part_of otic and occipital (AAO:0000993)[AAO] Otic capsules develop around the parts of the ear that lie within the chondrocranium. This part of the ear, known as the inner ear, is composed of the semicircular ducts and associated sacs that contain the receptive cells for equilibrium and hearing (reference 1); (...) considerations have led to our rethinking issues related to the origin of several aspects of vertebrate hearing, and to the view that many basic auditory functions evolved very early in vertebrate history, and that the functions observed in more `advanced' vertebrates, such as birds and mammals, are frequently modifications of themes first encountered in fishes, and perhaps even more ancestral animals.[well established][VHOG] in elasmobranchs, it remains cartilaginous in the adult; in the embryos of higher vertebrates, it is cartilaginous at first but later becomes bony (at approximately 23 weeks in humans) HP:0100228 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the innermost bone of the little toe|Fragmentation of the end part of the innermost bone of the pinkie toe|Fragmentation of the end part of the innermost bone of the pinky toe UMLS:C4022193 doelkens 2010-06-24T05:04:53Z human_phenotype owl:Class HP:0100099 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the innermost bone of the pinky toe|Abnormality of the end part of the innermost bone of the little toe|Abnormality of the end part of the innermost bone of the pinkie toe UMLS:C4022322 doelkens 2010-06-24T10:02:41Z human_phenotype owl:Class HP:0011569 biolink:NamedThing Cleft anterior mitral valve leaflet Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023295 peter 2012-04-08T08:40:46Z human_phenotype owl:Class HP:0031480 biolink:NamedThing Abnormal mitral valve leaflet morphology Any structural anomaly of the leaflets (also known as cusps) of the mitral valve. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 22:30:47+00:00 peter owl:Class UBERON:0019242 biolink:NamedThing pedal digit 2, 3 or 4 tmpxe7fu0cj_hp_relaxed.owl mesoaxial pedal digit|medial pedal digit|mesoxaxial ftoe uberon https://github.com/obophenotype/uberon/issues/592 owl:Class GO:0006996 biolink:NamedThing organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl organelle organization and biogenesis|single-organism organelle organization|single organism organelle organization|organelle organisation jl 2013-12-19T15:25:51Z GO:1902589 biological_process owl:Class GO:0008594 biolink:NamedThing photoreceptor cell morphogenesis The process in which the structures of a photoreceptor cell are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a photoreceptor cell, a sensory cell that reacts to the presence of light. An example of this is found in Drosophila melanogaster. tmpxe7fu0cj_hp_relaxed.owl photoreceptor development biological_process owl:Class CL:0000440 biolink:NamedThing melanocyte stimulating hormone secreting cell A cell of the intermediate pituitary that produces melanocyte stimulating hormone. tmpxe7fu0cj_hp_relaxed.owl melanotrope|melanotroph BTO:0002277 cell owl:Class CL:0000167 biolink:NamedThing peptide hormone secreting cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0007570 biolink:NamedThing Hyperkeratosis lenticularis perstans Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa. tmpxe7fu0cj_hp_relaxed.owl Flegel disease UMLS:C0263420|MSH:C538377|SNOMEDCT_US:28488007 human_phenotype owl:Class HP:0000962 biolink:NamedThing Hyperkeratosis Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:399955009|UMLS:C0870082|SNOMEDCT_US:26996000|MEDDRA:10020649|SNOMEDCT_US:396228006 HP:0007523 owl:Class UBERON:0004326 biolink:NamedThing middle phalanx of pedal digit 4 A middle phalanx that is part of a pedal digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl middle phalanx of fourth digit of foot|middle phalanx of 4th toe|fourth middle phalanx of foot|middle phalanx of fourth toe|4th toe intermediate phalanx|middle phalanx of pedal digit IV|middle phalanx of foot digit 4|foot digit 4 middle phalanx|foot digit 4 intermediate phalanx|middle phalanx of the 4th toe|intermediate phalanx of foot digit 4|4th toe middle phalanx|intermediate phalanx of 4th toe FMA:32625 uberon owl:Class UBERON:0014490 biolink:NamedThing middle phalanx of digit 4 A middle phalanx that is part of a digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl 4th digit intermediate phalanx|middle phalanx of digit IV|fourth middle phalanx|4th digit of middle phalanx|intermediate phalanx of 4th digit|4th digit middle phalanx|intermediate phalanx of fourth digit|middle phalanx of fourth digit|digit 4 intermediate phalanx|digit IV P2|fourth digit intermediate phalanx|middle phalanx of ring digit|4th digit of intermediate phalanx|intermediate phalanx of digit 4|middle phalanx of 4th digit|fourth digit middle phalanx|digit 4 middle phalanx uberon owl:Class UBERON:0005248 biolink:NamedThing bulbus cordis myocardium A myocardium that is part of a bulbus cordis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bulbus cordis cardiac muscle VHOG:0000609|EMAPA:36488 uberon owl:Class UBERON:0002134 biolink:NamedThing tricuspid valve An atrioventricular valve that is part of the outflow part of the right atrium. tmpxe7fu0cj_hp_relaxed.owl valva atrioventricularis dextra|right atrioventricular valve|valvula tricuspidalis MESH:D014261|galen:TricuspidValve|EMAPA:17873|NCIT:C12805|EHDAA:7427|RETIRED_EHDAA2:0002081|VHOG:0000816|GAID:567|UMLS:C0040960|EHDAA2:0004029|FMA:7234|MA:0000090|OpenCyc:Mx4rvuWAAJwpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg uberon owl:Class The three-segmented valve of the heart that keeps blood in the right ventricle from flowing back into the right atrium. [TFD][VHOG] The mature AV (atrioventricular) valve of the adult zebrafish 2-chambered heart is structurally similar to the mammalian AV valves with stratified ECM (extracellular matrix) and supporting chordae tendineae. Therefore, the major cellular and molecular events of valve development are largely conserved among animals with hearts composed of multiple chambers.[well established][VHOG] FMA part_ofs changed to connects UBERON:0002133 biolink:NamedThing atrioventricular valve A cardial valve in the atrioventricular region that separates the atrium from the ventricle and prevent backflow from the ventricles into the atria during systole. tmpxe7fu0cj_hp_relaxed.owl AV valve|atrio-ventricular valve MA:0002789|VHOG:0001472|EHDAA:7421|galen:AtrioventricularValve|TAO:0005064|EHDAA2:0000153|EMAPA:35154|FMA:7233|OpenCyc:Mx4rfCfdorrpEduAAAACs6hRXg|ZFA:0005064 uberon owl:Class Valve in the heart through which blood flows from the atria to the ventricles. [TFD][VHOG]|The atrioventricular valve has four distinct leaflets oriented anterior, posterior, left, and right of the atrioventricular orifice. Hu et al. 2001.[TAO] The conus arteriosus is the most distal part of the primitive fish heart and forms the connection between the ventricle and the ventral aorta. At the sinoatrial, the atrioventricular, and the ventriculoconal junctions, valves developed to prevent backflow of blood during relaxation of the preceding compartment.[uncertain][VHOG] in ZFA this is part of both atrium and ventricle, but we use a connecting relationship here; see also notes for left and right. MAXO:0010313 biolink:NamedThing liver CT The use of computed tomography to produce images of structures of the liver. tmpxe7fu0cj_hp_relaxed.owl CAT scan of liver|liver CAT scan|CT of liver|liver CT examination|liver computed tomography|liver computerized axial tomography 2020-03-31T20:39:14Z http://orcid.org/0000-0001-7941-2965 owl:Class MAXO:0010311 biolink:NamedThing abdominal CT The use of computed tomography to produce images of structures of the abdomen. tmpxe7fu0cj_hp_relaxed.owl CT of abdomen|abdomen computed tomography|abdomen computerized axial tomography|abdomen CT examination|CAT scan of abdomen|abdomen CAT scan 2020-03-31T20:39:14Z http://orcid.org/0000-0001-7941-2961 owl:Class GO:0033238 biolink:NamedThing regulation of cellular amine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform amines. tmpxe7fu0cj_hp_relaxed.owl regulation of amine metabolism biological_process owl:Class CL:0000168 biolink:NamedThing insulin secreting cell tmpxe7fu0cj_hp_relaxed.owl BTO:0000783 cell owl:Class GO:0032890 biolink:NamedThing regulation of organic acid transport Any process that modulates the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0031066 biolink:NamedThing Abnormal ovarian physiology Any anomaly of ovarian function. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 22:33:50+00:00 peter owl:Class HP:0030012 biolink:NamedThing Abnormal female reproductive system physiology tmpxe7fu0cj_hp_relaxed.owl Abnormal female genital system physiology|Abnormal female reproductive system physiology UMLS:C4022678|UMLS:C4020714 owl:Class HP:0020188 biolink:NamedThing Anterior predominant pachygyria with 5-10 mm cortical thickness Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-09-03 12:58:34+00:00 owl:Class HP:0020192 biolink:NamedThing Pachygyria with 5-10 mm cortical thickness Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-09-03 13:36:14+00:00 owl:Class HP:0009583 biolink:NamedThing Curved proximal phalanx of the 2nd finger Curved appearance of the proximal phalanx of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Curved innermost bone of index finger UMLS:C4024279 doelkens 2009-01-28T05:26:39Z human_phenotype owl:Class HP:0009549 biolink:NamedThing Curved phalanges of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Curved index finger bones UMLS:C4024299 doelkens 2009-01-21T10:20:26Z human_phenotype owl:Class HP:0033974 biolink:NamedThing Interlobular vein intima/media multilamellation Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers. tmpxe7fu0cj_hp_relaxed.owl Multilamellation (onion skinning) within interlobular vein intima/media|Interlobular vein intima/media onion skinning 2021-06-24 14:07:35+00:00 peter owl:Class HP:0033963 biolink:NamedThing Abnormal interlobular vein intima/media morphology Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-24 12:45:15+00:00 peter owl:Class HP:0033327 biolink:NamedThing Nail psoriasis Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 14:25:23+00:00 The prevalence of nail involvement in individuals with psoriasis is approximately 50%, with even higher prevalnce in individuals with psoriatic arthritis. peter owl:Class HP:0001597 biolink:NamedThing Abnormality of the nail Abnormality of the nail. tmpxe7fu0cj_hp_relaxed.owl Nail disease|Abnormality of the nail MSH:D009260|SNOMEDCT_US:17790008|MSH:D009264|UMLS:C0027339|UMLS:C0853087 Abnormality of the fingernails and/or toenails. owl:Class UBERON:0001268 biolink:NamedThing peritoneal fluid Transudate contained in the peritoneal cavity. tmpxe7fu0cj_hp_relaxed.owl BTO:0001031|FMA:16515|EMAPA:35683|Wikipedia:Peritoneal_fluid|MA:0002531|ncithesaurus:Peritoneal_Fluid uberon owl:Class UBERON:0007794 biolink:NamedThing secretion of serous gland Any fluid produced by a serous gland. tmpxe7fu0cj_hp_relaxed.owl serous fluid|serous gland fluid|serosal fluid Wikipedia:Serous_fluid uberon owl:Class HP:0001180 biolink:NamedThing Hand oligodactyly A developmental defect resulting in the presence of fewer than the normal number of fingers. tmpxe7fu0cj_hp_relaxed.owl Hand has less than 5 fingers SNOMEDCT_US:71358006|UMLS:C0728895 human_phenotype owl:Class HP:0009919 biolink:NamedThing Retinoblastoma A tumor of the eye originating from cells of the retina. tmpxe7fu0cj_hp_relaxed.owl Retina tumor|Retina tumour UMLS:C0035335|UMLS:C0524801|SNOMEDCT_US:19906005|MSH:D012175|MSH:D019572|SNOMEDCT_US:370967009|SNOMEDCT_US:127002001|NCIT:C7541 peter 2009-05-02T06:23:25Z human_phenotype owl:Class HP:0030063 biolink:NamedThing Neuroepithelial neoplasm A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0206715|MSH:D018302 owl:Class GO:0014061 biolink:NamedThing regulation of norepinephrine secretion Any process that modulates the frequency, rate or extent of the regulated release of norepinephrine. tmpxe7fu0cj_hp_relaxed.owl regulation of noradrenaline secretion biological_process owl:Class GO:0050433 biolink:NamedThing regulation of catecholamine secretion Any process that modulates the frequency, rate or extent of the regulated release of catecholamines. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100437 biolink:NamedThing Bullet-shaped proximal phalanx of the 3rd toe An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped proximal bone of the 3rd toe UMLS:C4022090 human_phenotype owl:Class HP:0010361 biolink:NamedThing Bullet-shaped 3rd toe phalanx An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped bones of 3rd toe|Bullet-shaped phalanges of the 3rd toe UMLS:C4021285 doelkens 2009-07-16T11:51:17Z human_phenotype owl:Class HP:0009152 biolink:NamedThing Abnormality of the epiphyses of the 5th finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of end part of little finger bone|Abnormality of end part of pinkie finger bone|Abnormality of end part of pinky finger bone UMLS:C4024569 peter 2008-12-22T02:07:27Z human_phenotype owl:Class HP:0009250 biolink:NamedThing Absent epiphysis of the distal phalanx of the 4th finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Absent end part of the outermost bone of the ring finger UMLS:C4024497 doelkens 2009-01-07T12:07:34Z human_phenotype owl:Class HP:0009249 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 4th finger tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the outermost bone of the ring finger UMLS:C4024498 doelkens 2009-01-07T12:04:09Z human_phenotype owl:Class HP:0100043 biolink:NamedThing Broad 5th toe A broad appearance of the fifth toe. tmpxe7fu0cj_hp_relaxed.owl Broad pinkie toe|Broad pinky toe|Broad little toe|Broad 5th toe UMLS:C4022378 doelkens 2010-06-24T09:56:25Z human_phenotype owl:Class HP:0001837 biolink:NamedThing Broad toe Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. tmpxe7fu0cj_hp_relaxed.owl Broad toe|Wide toe UMLS:C1865038 Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient. human_phenotype owl:Class HP:0007313 biolink:NamedThing Cerebral degeneration tmpxe7fu0cj_hp_relaxed.owl Neuroaxonal degeneration in the brain SNOMEDCT_US:52522001|SNOMEDCT_US:418143002|UMLS:C0154671 HP:0006874 human_phenotype owl:Class HP:0007369 biolink:NamedThing Atrophy/Degeneration affecting the cerebrum The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024898 peter 2008-04-01T10:28:00Z owl:Class GO:0006942 biolink:NamedThing regulation of striated muscle contraction Any process that modulates the frequency, rate or extent of striated muscle contraction. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0006937 biolink:NamedThing regulation of muscle contraction Any process that modulates the frequency, rate or extent of muscle contraction. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0017716 biolink:NamedThing thenar eminence A raised fleshy area on the palm of the hand near the base of the thumb. tmpxe7fu0cj_hp_relaxed.owl thenar part of palm FMA:61520 uberon owl:Class UBERON:0034929 biolink:NamedThing external soft tissue zone A region or zone on the surface of an organism that encompasses skin and any adnexa, down through muscles and bounded by underlying skeletal support structures. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0012901 biolink:NamedThing Myotonia of the jaw Slowed relaxation of muscles in the jaw. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022685 peter 2014-06-23T11:18:29Z human_phenotype owl:Class HP:0032118 biolink:NamedThing Retinitis Inflammation of the retina of the eye. tmpxe7fu0cj_hp_relaxed.owl 2018-11-17 14:59:57+00:00 Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina. peter owl:Class HP:0011215 biolink:NamedThing Hemihypsarrhythmia Hypsarrhythmia occurring in one hemisphere. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023460 peter 2011-11-29T07:42:18Z human_phenotype owl:Class HP:0011185 biolink:NamedThing EEG with focal epileptiform discharges EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). tmpxe7fu0cj_hp_relaxed.owl Focal EEG Abnormality UMLS:C4021199 Note that a focal EEG abnormality is not synonymous with "focal epileptiform discharges" because a focal EEG abnormality is not necessarily epileptiform (e.g., it could be a focal slowing). hecht 2011-11-19T10:39:02Z HP:0010840 owl:Class MAXO:0010215 biolink:NamedThing bladder ultrasonography The use of ultrasound to produce images of structures in the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl urinary bladder sonography|sonography of urinary bladder|urinary bladder diagnostic sonography|urinary bladder ultrasound imaging procedure|urinary bladder ultrasound procedure|urinary bladder ultrasound examination|urinary bladder medical ultrasound|ultrasonography of urinary bladder 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-3008 owl:Class CL:0000540 biolink:NamedThing neuron The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. tmpxe7fu0cj_hp_relaxed.owl nerve cell FMA:54527|FBbt:00005106|VHOG:0001483|BTO:0000938|CALOHA:TS-0683|WBbt:0003679 These cells are also reportedly CD4-negative and CD200-positive. They are also capable of producing CD40L and IFN-gamma. cell owl:Class CL:0002319 biolink:NamedThing neural cell A cell that is part of the nervous system. tmpxe7fu0cj_hp_relaxed.owl FMA:70333|CALOHA:TS-2040 tmeehan 2010-09-15T01:34:57Z cell owl:Class HP:0031037 biolink:NamedThing Reduced insulin-like factor 3 level Blood concentration of insulin-like factor 3 (ILF3) is below normal limits. tmpxe7fu0cj_hp_relaxed.owl Reduced plasma INSL3 level 2017-05-27 11:44:58+00:00 Insulin-like factor 3 (INSL3) is a peptide hormone produced in leydig cells of the testes. Its role in the adult male is unknown but INSL3 and its receptor RXFP2 have been linked to bone cell differentiation. It is speculated that low levels of INSL3 could be responsible for low bone mineral density in patients with primary osteoporosis and Klinefelter Syndrome. peter owl:Class HP:0005508 biolink:NamedThing Monoclonal immunoglobulin M proteinemia Presence of a monoclonal immunoglobulin M protein in the serum. tmpxe7fu0cj_hp_relaxed.owl Waldenstrom macroglobulinemia SNOMEDCT_US:190817009|SNOMEDCT_US:35562000|MSH:D008258|SNOMEDCT_US:190818004|UMLS:C0024419 This is a characteristic feature of Waldenstrom macroglobulinemia (WM), which is defined as a B-cell lymphoplasmacytic lymphoma, characterized by monoclonal immunoglobulin M protein in the serum and infiltration of bone marrow with lymphoplasmacytic cells. human_phenotype owl:Class HP:0031047 biolink:NamedThing Paraproteinemia An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. tmpxe7fu0cj_hp_relaxed.owl Monoclonal hypergammaglobulinemia 2017-05-27 14:25:46+00:00 A paraprotein is a monoclonal immunoglobulin or light chain present in the blood or urine; it is produced by a clonal population of mature B cells, most commonly plasma cells. Plasma cell disorders can be considered as a spectrum of conditions ranging from monoclonal gammopathy of undetermined significance (MGUS), through asymptomatic, to symptomatic myeloma. The frequency of paraprotein-associated heavy chains is IgG, IgA, IgM, IgD (in that order). Light chains may be kappa or lambda. Paraproteins are associated with both malignant and nonmalignant conditions and may lead to complications including neuropathy and nephropathy. peter owl:Class HP:0034079 biolink:NamedThing Anti-centromere protein B antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B. tmpxe7fu0cj_hp_relaxed.owl Anti-CENP-B antibody positivity 2021-12-19 02:26:26+00:00 peter owl:Class HP:0010506 biolink:NamedThing Abnormal plantar dermatoglyphics An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot. tmpxe7fu0cj_hp_relaxed.owl Abnormal dermatoglyphics on feet|Abnormal prints on feet UMLS:C4021258 peter 2009-09-19T09:47:44Z human_phenotype owl:Class HP:0032312 biolink:NamedThing Decreased circulating globulin level An abnormally reduced concentration of globulins in the blood. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 11:02:26+00:00 peter owl:Class HP:0032179 biolink:NamedThing Abnormal circulating globulin level An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode. tmpxe7fu0cj_hp_relaxed.owl 2019-01-06 14:01:21+00:00 Any increase or decrease in the globulin fraction should be evaluated by serum electrophoresis. The alpha1 fraction consists mainly of alpha1 antitrypsin, which is an acute phase reactant that goes up in acute inflammation. The alpha1 fraction is reduced in congenital alpha1 antitrypsin deficiency. The alpha2 region consists mainly of alpha2 macroglobulin and haptoglobin. The major beta globulin is transferring. Elevations can occur in severe iron deficiency. peter owl:Class HP:0030680 biolink:NamedThing Abnormality of cardiovascular system morphology Any structural anomaly of the heart and great vessels. tmpxe7fu0cj_hp_relaxed.owl Cardiovascular malformations UMLS:C4049796 HP:0002564|HP:0001632|HP:0002565 owl:Class HP:0001626 biolink:NamedThing Abnormality of the cardiovascular system Any abnormality of the cardiovascular system. tmpxe7fu0cj_hp_relaxed.owl Cardiovascular abnormality|Abnormality of the cardiovascular system|Cardiovascular disease MSH:D018376|UMLS:C0007222|UMLS:C0243050|MSH:D002318|SNOMEDCT_US:49601007 The cardiovascular system consists of the heart, vasculature, and the lymphatic system. owl:Class GO:0033239 biolink:NamedThing negative regulation of cellular amine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amines. tmpxe7fu0cj_hp_relaxed.owl negative regulation of amine metabolism biological_process owl:Class HP:0032011 biolink:NamedThing Heterophoria Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs. tmpxe7fu0cj_hp_relaxed.owl 2018-07-22 15:44:43+00:00 In contrast to heterophoria, heterotropias are manifest deviations. Some individuals may be phoric in one situation (e.g. for distance) and tropic in another (e.g. for near). The distinction between heterotropia and heterophoria is that heterotropia refers to a misalignment of the eyes when the affected individual is looking at an object while the eyes are uncovered whereas heterophoria is a misalignment that is observed only when the two eyes are no longer looking at the same object. The monocular cover-uncover test is the most important test for detecting the presence of manifest strabismus and for differentiating a heterophoria from a heterotropia. peter owl:Class HP:0030441 biolink:NamedThing Anal margin Paget's disease An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1332270 Macroscopically, anal margin Paget's disease presents as an erythematous and eczematous rash similar to benign skin conditions or other perianal diseases such as Bowen's disease, hydradenitis suppurativa, pruritus ani, or Crohn's disease. owl:Class HP:0030440 biolink:NamedThing Anal margin neoplasm A tumor of the anal margin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2064234 The anal canal is defined as the caudal part of the large intestine extending from the anorectal ring to the anal verge and is about 3 to 5 cm in length. Outside of the anal verge lies the anal margin, also referred to as the perianal skin, which commonly encompasses a radius of 5 cm. The anal verge can be identified visually as the part of the anal canal remaining closed when the buttocks are gently retracted. The upper anal canal is lined by columnar tissue that transitions into squamous epithelium at the dentate line. The dentate line, identified by the termination of the anal columns, lies 1 to 2 cm above the anal verge. owl:Class HP:0034015 biolink:NamedThing Cavitating pulmonary nodule Thick-walled abnormal gas-filled interstitial nodule within a lung. tmpxe7fu0cj_hp_relaxed.owl 2021-09-04 14:54:42+00:00 peter owl:Class HP:0033655 biolink:NamedThing Pulmonary cavity A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick. tmpxe7fu0cj_hp_relaxed.owl Pulmonary cavern 2021-02-24 13:46:26+00:00 A pulmonary cavity can be caused by microorganisms (bacteria including mycobacteria, funghi, viruses, parasites), malignant processes or autoimmune disorders. peter owl:Class HP:0001135 biolink:NamedThing Chorioretinal dystrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857627 HP:0007712|HP:0007920 human_phenotype owl:Class HP:0000556 biolink:NamedThing Retinal dystrophy Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. tmpxe7fu0cj_hp_relaxed.owl Breakdown of light-sensitive cells in back of eye UMLS:C0854723|MSH:D058499|SNOMEDCT_US:314407005 HP:0007974|HP:0007982|HP:0007910|HP:0007736 owl:Class HP:0410187 biolink:NamedThing Decreased glucose-6-phosphate dehydrogenase level in tissue A decrease in the level of glucose-6-phosphate dehydrogenase in tissue. tmpxe7fu0cj_hp_relaxed.owl Decreased G6PD level in tissue 2018-05-21 18:03:29+00:00 owl:Class HP:0410185 biolink:NamedThing Abnormal glucose-6-phosphate dehydrogenase level in tissue An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue. tmpxe7fu0cj_hp_relaxed.owl Abnormal G6PD level in tissue 2018-05-21 18:01:15+00:00 owl:Class HP:0011291 biolink:NamedThing EEG with central sharp slow waves EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023425 peter 2012-02-11T12:31:02Z human_phenotype owl:Class HP:0033718 biolink:NamedThing EEG with central epileptiform discharges Focal epileptiform EEG discharges recorded in the central region. tmpxe7fu0cj_hp_relaxed.owl 2021-04-07 12:58:21+00:00 peter owl:Class UBERON:0001713 biolink:NamedThing lower eyelid tmpxe7fu0cj_hp_relaxed.owl palpebra inferior|inferior eyelid EHDAA:9041|AAO:0010349|XAO:0000007|MA:0001263|NCIT:C49580|VHOG:0000388|EMAPA:17831|OpenCyc:Mx4rvW6GtJwpEbGdrcN5Y29ycA|EHDAA2:0001015|UMLS:C0229258|FMA:54442 Eye:makeup.jpg uberon owl:Class A tetrapod's eye usually has one or more eyelids that can move across its surface and protect and cleanse it. The eye of lissamphibians has a stationary upper eyelid but a movable and transparent lower one.[well established][VHOG] UBERON:0001711 biolink:NamedThing eyelid A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane. tmpxe7fu0cj_hp_relaxed.owl blephara|blepharon|palpebra|eye lid|palpebrae EHDAA:9037|MA:0000268|NCIT:C12713|MESH:D005143|BTO:0002241|UMLS:C0015426|EHDAA2:0000487|EV:0100338|GAID:72|VHOG:0000016|OpenCyc:Mx4rvVi4m5wpEbGdrcN5Y29ycA|FMA:54437|EMAPA:17829 Eye:makeup.jpg uberon owl:Class palpebral|blepharic In humans the upper and lower eyelid consists of the following layers, starting anteriorly: (1) skin, (2) a layer of subcutaneous connective tissue, (3) a layer of striated muscle fibres of the orbicularis muscle, (4) a layer of submuscular connective tissue, (5) a fibrous layer, including the tarsal plates, (6) a layer of smooth muscle, (7) the palpebral conjunctiva. FMA divides this into skin, fascia, conjunctiva|Consider adding 'eye surface', like MA HP:0025459 biolink:NamedThing Increased CSF/serum albumin ratio An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. tmpxe7fu0cj_hp_relaxed.owl 2017-05-05 10:50:18+00:00 HPO:probinson owl:Class HP:0030981 biolink:NamedThing Abnormal CSF/serum albumin ratio A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF. tmpxe7fu0cj_hp_relaxed.owl HPO:probinson owl:Class UBERON:0007284 biolink:NamedThing presumptive neural plate A presumptive structure that has the potential to develop into a neural plate. tmpxe7fu0cj_hp_relaxed.owl prospective vegetal ectoderm|prospective neuroectoderm ZFA:0000063|EFO:0003424|TAO:0000063 consider merging uberon owl:Class Region of the gastrula which gives rise to the neural plate.[TAO] UBERON:0001249 biolink:NamedThing spleen lymphoid follicle The area of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur. tmpxe7fu0cj_hp_relaxed.owl Malpighian body|spleen B cell follicle|splenic lymphatic follicle|lymphoid follicle of spleen|splenic B cell follicle|splenic lymphoid follicle|lymphatic follicle of spleen|spleen lymphoid nodule|spleen lymphoid follicle|lymphoid nodule of spleen EMAPA:35804|NCIT:C33602|MA:0002672|UMLS:C1519475 UBERON:0003969 uberon owl:Class UBERON:0003221 biolink:NamedThing phalanx Endochondral bones that are often elongate and arranged in rows of articulating elements, and form the visible part of the digits. tmpxe7fu0cj_hp_relaxed.owl digit long bone|long bone of digit|phalanges|phalange|phalanx bone OpenCyc:Mx4rvolPZpwpEbGdrcN5Y29ycA|VSAO:0000199|MA:0000304|NCIT:C33317|EMAPA:32614|UMLS:C0222682|galen:Phalanx|CALOHA:TS-2211|FMA:321661 uberon owl:Class phalangeal In primates such as humans and monkeys, the thumb and big toe have two phalanges, while the other fingers and toes consist of three UBERON:0003606 biolink:NamedThing limb long bone A long bone that is part of a limb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl long bone of limb EMAPA:35495|MA:0000298 uberon owl:Class CHEBI:36309 biolink:NamedThing cyclic tetrapyrrole tmpxe7fu0cj_hp_relaxed.owl macrocyclic tetrapyrrole|macrocyclic tetrapyrroles|cyclic tetrapyrroles chebi_ontology owl:Class CHEBI:58951 biolink:NamedThing short-chain fatty acid anion Any fatty acid anion obtained by removal of a proton from the carboxy group of a short-chain fatty acid (chain length of less than C6). tmpxe7fu0cj_hp_relaxed.owl short-chain fatty acid anions|a short-chain fatty acid -1 CO2R 44.010 43.98983 [O-]C([*])=O chebi_ontology owl:Class GO:1905651 biolink:NamedThing regulation of artery morphogenesis Any process that modulates the frequency, rate or extent of artery morphogenesis. tmpxe7fu0cj_hp_relaxed.owl regulation of arterial morphogenesis|regulation of arteriogenesis rph 2016-11-09T12:19:37Z biological_process owl:Class UBERON:0005411 biolink:NamedThing bony otic capsule The cartilage or bony capsule surrounding the inner ear mechanism. tmpxe7fu0cj_hp_relaxed.owl otic capsule bone MA:0000252|EMAPA:37466|EMAPA:17596 uberon owl:Class In elasmobranchs, the otic capsule remains cartilaginous in the adult; in the embryos of higher vertebrates, it is cartilaginous at first but later becomes bony (at approximately 23 weeks in humans) UBERON:0002513 biolink:NamedThing endochondral bone Replacement bone that forms within cartilage. tmpxe7fu0cj_hp_relaxed.owl endochondral bones|ossified chondrogenic bone|cartilaginous bone AAO:0010776|AEO:0000083|ZFA:0001591|FMA:24321|VSAO:0000145|BTO:0002157|TAO:0001591|EHDAA2:0003083|XAO:0004018 http://upload.wikimedia.org/wikipedia/commons/e/ee/Hypertrophic_Zone_of_Epiphyseal_Plate.jpg placement in this class to be inferred uberon https://github.com/obophenotype/uberon/wiki/Modeling-endochondral-elements-Design-Pattern owl:Class Replacement bone that forms within cartilage.[VSAO] some structures, e.g. in ZFA are both intramembrane and endochondral HP:0002230 biolink:NamedThing Generalized hirsutism Abnormally increased hair growth over much of the entire body. tmpxe7fu0cj_hp_relaxed.owl Generalised hirsutism|Excessive hairiness over body UMLS:C1849211 human_phenotype owl:Class HP:0001007 biolink:NamedThing Hirsutism Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). tmpxe7fu0cj_hp_relaxed.owl Excessive hairiness SNOMEDCT_US:399939002|UMLS:C0019572|MSH:D006628 owl:Class GO:0030643 biolink:NamedThing cellular phosphate ion homeostasis Any process involved in the maintenance of an internal steady state of phosphate ions at the level of a cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0055062 biolink:NamedThing phosphate ion homeostasis Any process involved in the maintenance of an internal steady state of phosphate ions within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100950 biolink:NamedThing Decreased 3-hydroxyacyl-CoA dehydrogenase level tmpxe7fu0cj_hp_relaxed.owl Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency|Long chain 3 hydroxyacyl coA dehydrogenase deficiency|Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency MSH:C566945|UMLS:C1969443|SNOMEDCT_US:237999008 Previously, 3-alpha-hydroxyacyl-CoA dehydrogenase was referred to as short-chain 3-alpha-hydroxyacyl-CoA dehydrogenase as well as medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase. doelkens 2011-12-02T04:33:23Z human_phenotype owl:Class HP:0012469 biolink:NamedThing Infantile spasms Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy). tmpxe7fu0cj_hp_relaxed.owl UMLS:C3887898 peter 2013-11-26T05:36:45Z human_phenotype owl:Class HP:0011097 biolink:NamedThing Epileptic spasm A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages tmpxe7fu0cj_hp_relaxed.owl Salaam seizures|Epileptic spasms|Salaam seizure|West syndrome|Salaam convulsion|Salaam convulsions UMLS:C0037769|MSH:D013036|UMLS:C1527366|SNOMEDCT_US:28055006 The maximum age of onset is between 3 and 12 months, the peak being at 6 months. However, spasms may start from birth, or appear long after the age of 12 months, including into adulthood. Infantile spasms represent a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and hypsarrhythmia (as demonstrated by electroencephalography). peter 2011-05-04T01:56:31Z human_phenotype owl:Class CL:0000146 biolink:NamedThing simple columnar epithelial cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class CL:0000075 biolink:NamedThing columnar/cuboidal epithelial cell A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0002751 biolink:NamedThing Kyphoscoliosis An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0575158|SNOMEDCT_US:405773007 HP:0003424|HP:0003412|HP:0005728|HP:0004593 human_phenotype owl:Class GO:1905770 biolink:NamedThing regulation of mesodermal cell differentiation Any process that modulates the frequency, rate or extent of mesodermal cell differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of mesoderm cell differentiation rph 2016-12-21T12:44:13Z biological_process owl:Class GO:1904528 biolink:NamedThing positive regulation of microtubule binding Any process that activates or increases the frequency, rate or extent of microtubule binding. tmpxe7fu0cj_hp_relaxed.owl activation of microtubule severing activity|up regulation of microtubule binding|activation of microtubule/chromatin interaction|positive regulation of microtubule/chromatin interaction|positive regulation of microtubule severing activity|up-regulation of microtubule/chromatin interaction|up regulation of microtubule severing activity|up-regulation of microtubule binding|up regulation of microtubule/chromatin interaction|up-regulation of microtubule severing activity|upregulation of microtubule binding|upregulation of microtubule severing activity|upregulation of microtubule/chromatin interaction|activation of microtubule binding als 2015-07-30T10:32:36Z biological_process owl:Class GO:1904526 biolink:NamedThing regulation of microtubule binding Any process that modulates the frequency, rate or extent of microtubule binding. tmpxe7fu0cj_hp_relaxed.owl regulation of microtubule severing activity|regulation of microtubule/chromatin interaction als 2015-07-30T10:32:13Z biological_process owl:Class HP:0008272 biolink:NamedThing Renal tubular lysine transport defect tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024714 human_phenotype owl:Class HP:0006344 biolink:NamedThing Abnormality of primary molar morphology An abnormality of morphology of primary molar. tmpxe7fu0cj_hp_relaxed.owl Abnormality of shape of baby molar|Abnormality of shape of primary molar|Abnormality of deciduous molar morphology UMLS:C4025059 human_phenotype owl:Class HP:0011070 biolink:NamedThing Abnormal molar morphology An abnormality of morphology of molar tooth. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of molar tooth|Abnormality of molar morphology UMLS:C4023553 peter 2011-03-10T03:45:51Z owl:Class UBERON:0004341 biolink:NamedThing primitive streak The primitive streak is a structure that forms during the early stages of avian, reptilian and mammalian embryonic development[WP]. the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm[MP]. tmpxe7fu0cj_hp_relaxed.owl primitive streak - blastopore - germ ring VHOG:0001202|EHDAA:185|UMLS:C0033153|FMA:293110|EHDAA2:0001525|EMAPA:16072|NCIT:C28402 http://upload.wikimedia.org/wikipedia/commons/f/f4/Gray13.png uberon owl:Class (...) the blastopore equivalent of chordates (germ ring in fish, marginal zone/blastopore lip in frog and node/primitive streak in chick and mouse) (...) (reference 1); Indeed, the primitive streak has been considered the homologue of the blastopore since the 1870s (reference 2).[well established][VHOG] VHOG includes a very broad grouping here based on http://www.ncbi.nlm.nih.gov/pubmed/9609826 HP:0032975 biolink:NamedThing Abnormal bronchoalveolar fluid protein level Any deviation from the normal concentration of protein in the bronchoalveolar fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal biochemical composition of broncho-alveolar fluid|Abnormal level of proteins in the broncho-alveolar fluid peter owl:Class HP:0040035 biolink:NamedThing Abnormality of the fourth metatarsal bone tmpxe7fu0cj_hp_relaxed.owl Abnormality of the 4th long bone of foot UMLS:C4022478 HPO:skoehler owl:Class HP:0006903 biolink:NamedThing Congenital peripheral neuropathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024967 human_phenotype owl:Class HP:0003844 biolink:NamedThing Small epiphyses of the upper limbs tmpxe7fu0cj_hp_relaxed.owl Small end part of upper limb bones UMLS:C4025556 human_phenotype owl:Class HP:0010585 biolink:NamedThing Small epiphyses Reduction in the size or volume of epiphyses. tmpxe7fu0cj_hp_relaxed.owl Small end part of bone UMLS:C1846803 sandra1 2009-10-22T02:53:19Z HP:0005730 human_phenotype owl:Class HP:0008744 biolink:NamedThing Abnormal aryepiglottic fold morphology An abnormality of the aryepiglottic fold. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the aryepiglottic fold|Abnormal aryepiglottic folds UMLS:C1849357 The aryepiglottic fold is a fold of mucous membrane extending on each side between the lateral border of the epiglottis and the summit of the arytenoid cartilage. human_phenotype owl:Class HP:0025423 biolink:NamedThing Abnormal larynx morphology Any anomaly of the structure of the larynx. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 12:44:49+00:00 HPO:probinson owl:Class GO:0031114 biolink:NamedThing regulation of microtubule depolymerization Any process that modulates the frequency, rate or extent of microtubule depolymerization. tmpxe7fu0cj_hp_relaxed.owl regulation of microtubule disassembly biological_process owl:Class GO:1901879 biolink:NamedThing regulation of protein depolymerization Any process that modulates the frequency, rate or extent of protein depolymerization. tmpxe7fu0cj_hp_relaxed.owl regulation of protein polymer catabolic process|regulation of protein polymer catabolism|regulation of protein polymer breakdown|regulation of protein polymer degradation rl 2013-02-06T13:57:23Z biological_process owl:Class HP:0003277 biolink:NamedThing Constricted iliac wing tmpxe7fu0cj_hp_relaxed.owl Constricted iliac wings UMLS:C1854785 owl:Class HP:0011867 biolink:NamedThing Abnormal iliac wing morphology An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the wing of the ilium UMLS:C4023156 peter 2012-05-28T07:23:30Z owl:Class GO:0048643 biolink:NamedThing positive regulation of skeletal muscle tissue development Any process that activates, maintains or increases the rate of skeletal muscle tissue development. tmpxe7fu0cj_hp_relaxed.owl up regulation of skeletal muscle development|stimulation of skeletal muscle development|activation of skeletal muscle development|up-regulation of skeletal muscle development|upregulation of skeletal muscle development biological_process owl:Class GO:0045844 biolink:NamedThing positive regulation of striated muscle tissue development Any process that activates or increases the frequency, rate or extent of striated muscle development. tmpxe7fu0cj_hp_relaxed.owl upregulation of striated muscle development|activation of striated muscle development|up-regulation of striated muscle development|up regulation of striated muscle development|stimulation of striated muscle development biological_process owl:Class HP:0033753 biolink:NamedThing Reduced residual volume Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation. tmpxe7fu0cj_hp_relaxed.owl 2021-04-21 16:11:22+00:00 peter owl:Class HP:0033752 biolink:NamedThing Abnormal residual volume Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs). tmpxe7fu0cj_hp_relaxed.owl 2021-04-21 16:09:44+00:00 peter owl:Class PATO:0001590 biolink:NamedThing overlap with A structural quality inhering in a bearer by virtue of the bearer's coinciding spatially, partially or wholly with another entity. tmpxe7fu0cj_hp_relaxed.owl overlap quality owl:Class HP:0031443 biolink:NamedThing Abnormal tricuspid valve leaflet morphology Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 13:42:38+00:00 peter owl:Class HP:0010088 biolink:NamedThing Curved proximal phalanx of the hallux A deviation from the normal straight form of the proximal phalanx of the big toe. tmpxe7fu0cj_hp_relaxed.owl Curved innermost bone of the big toe UMLS:C4024059 doelkens 2009-05-29T12:17:16Z human_phenotype owl:Class HP:0010052 biolink:NamedThing Abnormal morphology of the proximal phalanx of the hallux An abnormal shape or form of the proximal phalanx of the big toe. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the proximal phalanx of the hallux|Abnormal innermost big toe bone UMLS:C4024084 In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the big toe is embryologically equivalent to the middle phalanges of the other digits, whereas the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. doelkens 2009-05-29T11:47:46Z owl:Class HP:0033158 biolink:NamedThing Reduced respiratory ciliary beating frequency An abnormal reduction in the number of beats per unit time of the respiratory cilia. tmpxe7fu0cj_hp_relaxed.owl Dminished respiratory ciliary beat frequency 2020-09-20 13:24:25+00:00 Respiratory cilia beat in a coordinated manner with a specific frequency and pattern, clearing mucus and debris from the airways. In primary ciliary dyskinesia cilia are either stationary or beat in a slow or dyskinetic fashion. Impaired mucociliary clearance in these patients is associated with recurrent chest infections, which may lead to bronchiectasis and sinusitis. The diagnosis of primary ciliary dyskinesia is made on the basis of a supportive clinical history and an abnormal ciliary beat frequency accompanied in most cases by specific abnormalities of the ciliary axoneme on electron microscopy. peter owl:Class HP:0012261 biolink:NamedThing Abnormal respiratory motile cilium physiology Any functional anomaly of the respiratory motile cilia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022984 Abnormal respiratory motile cilium physiology may include alterations in ciliary beating pattern or frequency. peter 2013-04-07T10:05:43Z human_phenotype owl:Class UBERON:0008436 biolink:NamedThing thoracic vertebral arch A neural arch that is part of a thoracic vertebra. tmpxe7fu0cj_hp_relaxed.owl arch of thoracic vertebra FMA:9151 uberon owl:Class UBERON:0003861 biolink:NamedThing neural arch Posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine. tmpxe7fu0cj_hp_relaxed.owl arcus vertebrae|vertebra dorsal arch|arcus vertebra|arcus vertebrae (vertebralis)|dorsal arcocentrum|vertebra neural arch EFO:0003618|ZFA:0001066|UMLS:C0223076|VHOG:0001670|AAO:0000725|FMA:11946|MA:0001453|TAO:0001066|OpenCyc:Mx4rwKYHvZwpEbGdrcN5Y29ycA|NCIT:C32138 http://upload.wikimedia.org/wikipedia/commons/3/30/Gray82.png uberon owl:Class the dorsal bony and/or cartilaginous part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process)|Bony arch perched on the vertebral centrum; successive arches enclose the neural canal that surrounds and protects the spinal cord dorsally.[AAO]|A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone.[TAO] relationship loss: develops_from basidorsal (TAO:0001060)[TAO] (...) certain common components [of vertebral structure] are found in nearly all vertebrate. A representative vertebra has a vertebral arch or neural arch, which extends dorsally around the spinal cord.[well established][VHOG] tiny neural arches present in Hagfish (which lack a true vertebraal column). The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone HP:0007398 biolink:NamedThing Asymmetric, linear skin defects tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024888 human_phenotype owl:Class HP:0008065 biolink:NamedThing Aplasia/Hypoplasia of the skin tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped skin|Absent/small skin UMLS:C4024737 peter 2008-04-02T03:44:00Z human_phenotype owl:Class GO:0042320 biolink:NamedThing regulation of circadian sleep/wake cycle, REM sleep Any process that modulates the frequency, rate or extent of rapid eye movement (REM) sleep. tmpxe7fu0cj_hp_relaxed.owl regulation of REM sleep biological_process owl:Class UBERON:0003512 biolink:NamedThing lung blood vessel A blood vessel that is part of a lung [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pulmonary vascular element|blood vessel of lung MA:0002457|EMAPA:32867 uberon owl:Class HP:0040096 biolink:NamedThing Neoplasm of the inner ear A tumor (abnormal growth of tissue) of the inner ear. tmpxe7fu0cj_hp_relaxed.owl Inner ear tumour|Inner ear tumor UMLS:C1512779|NCIT:C3262 HPO:skoehler owl:Class HP:0012780 biolink:NamedThing Neoplasm of the ear A tumor (abnormal growth of tissue) of the ear. tmpxe7fu0cj_hp_relaxed.owl Ear tumour|Ear tumor NCIT:C3262|UMLS:C0013449|MSH:D004428|SNOMEDCT_US:363228008 peter 2014-04-07T06:11:56Z human_phenotype owl:Class UBERON:0012312 biolink:NamedThing maxillary process ectoderm tmpxe7fu0cj_hp_relaxed.owl EMAPA:17637|EHDAA2:0004599|FMA:312685 uberon owl:Class UBERON:0000490 biolink:NamedThing unilaminar epithelium Epithelium which consists of a single layer of epithelial cells. Examples: endothelium, mesothelium, glandular squamous epithelium.[FMA]. tmpxe7fu0cj_hp_relaxed.owl simple epithelium|unilaminar epithelia BILA:0000073|FMA:45561|TAO:0001495|EHDAA2:0003073|NCIT:C33554|CARO:0000073|AAO:0010062|XAO:0004007|ZFA:0001495|BTO:0002073|UMLS:C0682574|AEO:0000073|HAO:0000073|SCTID:309043004 consider adding disjointness axiom between unilaminar and multilaminar - but note that this will render EHDAA2:0003244 (chorionic trophoblast) unsatisfiable uberon owl:Class Epithelium that consists of a single layer of epithelial cells.[CARO] GO:0051149 biolink:NamedThing positive regulation of muscle cell differentiation Any process that activates or increases the frequency, rate or extent of muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl up regulation of muscle cell differentiation|stimulation of muscle cell differentiation|upregulation of muscle cell differentiation|up-regulation of muscle cell differentiation|activation of muscle cell differentiation biological_process owl:Class GO:0051147 biolink:NamedThing regulation of muscle cell differentiation Any process that modulates the frequency, rate or extent of muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0055064 biolink:NamedThing chloride ion homeostasis Any process involved in the maintenance of an internal steady state of chloride ions within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0055083 biolink:NamedThing monovalent inorganic anion homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic anions within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0070925 biolink:NamedThing organelle assembly The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl mah 2009-09-15T03:00:51Z biological_process owl:Class HP:0000752 biolink:NamedThing Hyperactivity Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate. tmpxe7fu0cj_hp_relaxed.owl Hyperactive behavior|More active than typical|Hyperactive behaviour UMLS:C0424295|MSH:D006948|SNOMEDCT_US:44548000 HP:0008764 owl:Class HP:0032028 biolink:NamedThing Macular dots Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. tmpxe7fu0cj_hp_relaxed.owl 2018-09-01 14:44:49+00:00 peter owl:Class HP:0011096 biolink:NamedThing Peripheral demyelination A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl Demyelination UMLS:C0878575 This feature is generally diagnosed on the basis of a sural nerve biopsy. Demyelination is associated with slowed nerve conduction, increased refractoriness, and conduction block. peter 2011-03-28T09:01:02Z HP:0003381|HP:0007282|HP:0006939 human_phenotype owl:Class HP:0003130 biolink:NamedThing Abnormal peripheral myelination An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025648 This finding may be observed upon biopsy of the sural nerve. Myelination, i.e., the presence of a segmented lipid-rich sheath (myelin), enables faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system (GO:0022011). HP:0003408 human_phenotype owl:Class UBERON:0003534 biolink:NamedThing tail skin A zone of skin that is part of a tail [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl skin of post-vent region|post-vent region skin|skin of tail MA:0000700|EMAPA:36502 uberon owl:Class UBERON:0007158 biolink:NamedThing lumen of anal canal An anatomical cavity that surrounded_by a anal canal. tmpxe7fu0cj_hp_relaxed.owl anal canal lumen EMAPA:18836|FMA:17357 uberon owl:Class GO:0061855 biolink:NamedThing negative regulation of neuroblast migration Any process that stops, prevents, or reduces the frequency, rate or extent of neuroblast migration. tmpxe7fu0cj_hp_relaxed.owl dph 2017-03-08T18:26:21Z biological_process owl:Class UBERON:0004434 biolink:NamedThing proximal epiphysis of distal phalanx of manual digit 4 A proximal epiphysis that is part of a distal phalanx of manual digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl basal epiphysis of distal phalanx of fourth finger|proximal epiphysis of distal phalanx of manual digit IV|base of distal phalanx of ring finger|base of distal phalanx of fourth finger|proximal epiphysis of distal phalanx of ring finger|base of distal phalanx of fourth digit of hand|basal epiphysis of distal phalanx of ring finger FMA:37529 uberon owl:Class UBERON:0004420 biolink:NamedThing proximal epiphysis of phalanx of manual digit 4 A proximal epiphysis that is part of a manual digit 4 phalanx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal epiphysis of phalanx of ring finger|proximal epiphysis of phalanx of manual digit 4|basal epiphysis of phalanx of ring finger|proximal epiphysis of phalanx of manual digit IV|base of phalanx of fourth digit of hand|base of phalanx of ring finger|base of phalanx of fourth finger FMA:37522 uberon owl:Class UBERON:0007238 biolink:NamedThing 1st arch maxillary component tmpxe7fu0cj_hp_relaxed.owl EHDAA:595|EMAPA:16388|VHOG:0000511|EHDAA2:0000038 relationship to palatoquadrate to be added uberon owl:Class Subsequent vertebrate evolution has also involved major alterations to the pharynx; perhaps the most notable occurred with the evolution of the gnathostomes. This involved substantial modifications to the most anterior pharyngeal segments, with the jaw forming from the first, anterior, pharyngeal segment, while the second formed its supporting apparatus, the hyoid.[well established][VHOG] GO:0099172 biolink:NamedThing presynapse organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a presynapse. tmpxe7fu0cj_hp_relaxed.owl presynapse development|presynapse morphogenesis|presynapse organisation|presynapse organization and biogenesis biological_process owl:Class GO:0016043 biolink:NamedThing cellular component organization A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. tmpxe7fu0cj_hp_relaxed.owl cell organisation|cellular component organization in other organism|cellular component organisation in other organism|cellular component organization at cellular level|cellular component organisation at cellular level|cell organization and biogenesis GO:0071842|GO:0044235 biological_process owl:Class GO:1903224 biolink:NamedThing regulation of endodermal cell differentiation Any process that modulates the frequency, rate or extent of endodermal cell differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of endoderm cell differentiation als 2014-07-29T13:22:35Z biological_process owl:Class GO:2001224 biolink:NamedThing positive regulation of neuron migration Any process that activates or increases the frequency, rate or extent of neuron migration. tmpxe7fu0cj_hp_relaxed.owl positive regulation of neuron guidance|positive regulation of neuron chemotaxis|positive regulation of neuronal migration kmv 2011-11-17T10:01:49Z biological_process owl:Class GO:2001222 biolink:NamedThing regulation of neuron migration Any process that modulates the frequency, rate or extent of neuron migration. tmpxe7fu0cj_hp_relaxed.owl regulation of neuronal migration|regulation of neuron guidance|regulation of neuron chemotaxis kmv 2011-11-17T10:01:38Z biological_process owl:Class GO:0032885 biolink:NamedThing regulation of polysaccharide biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of polysaccharides. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0032881 biolink:NamedThing regulation of polysaccharide metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving polysaccharides. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0019825 biolink:NamedThing oxygen binding Binding to oxygen (O2). tmpxe7fu0cj_hp_relaxed.owl cytochrome P450|cytochrome P450 activity molecular_function owl:Class CL:0000617 biolink:NamedThing GABAergic neuron A neuron that uses GABA as a vesicular neurotransmitter tmpxe7fu0cj_hp_relaxed.owl GABA-ergic neuron WBbt:0005190|FMA:84788 cell owl:Class HP:0005415 biolink:NamedThing Decreased proportion of CD8-positive T cells A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells. tmpxe7fu0cj_hp_relaxed.owl CD8+ T-cell lymphopenia|Decreased proportion of CD8+ T cells|Decreased proportion of CD8-positive, alpha-beta T cells UMLS:C1839305 HP:0005481 human_phenotype owl:Class HP:0005403 biolink:NamedThing T lymphocytopenia An abnormally low count of T cells. tmpxe7fu0cj_hp_relaxed.owl Reduced number of T cells|Decrease in T cell count|Low T cell count|Decrease in T cell number|Decreased numbers of circulating T cells UMLS:C2931322|MSH:C536783 HP:0045071|HP:0005412 human_phenotype owl:Class HP:0010596 biolink:NamedThing Abnormality of the proximal radial epiphysis Any abnormality of the proximal epiphysis of the radius. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023777 sandra1 2009-10-22T03:06:29Z human_phenotype owl:Class HP:0003946 biolink:NamedThing Abnormality of the epiphyses of the elbow tmpxe7fu0cj_hp_relaxed.owl Abnormality of end part of the elbow bone UMLS:C4025488 human_phenotype owl:Class UBERON:0006904 biolink:NamedThing head mesenchyme from mesoderm A head mesenchyme that develops_from a mesoderm. tmpxe7fu0cj_hp_relaxed.owl mesenchyme derived from head mesoderm|mesenchyme from head mesoderm|head mesenchyme from mesoderm|head mesoderm|head mesenchyme from head mesoderm|head mesenchyme derived from mesoderm|cranial mesoderm EMAPA_RETIRED:16270|EHDAA2:0001118|TAO:0000998|EFO:0003603|EHDAA:655|EMAPA:16099|VHOG:0000185|XAO:0000053|ZFA:0000998|AAO:0011051|EFO:0003337|FMA:293859 merged in 'head mesoderm' from XAO/AAO and EFO here. Partially implements https://github.com/obophenotype/uberon/wiki/The-neural-crest NC meeting scheme uberon owl:Class GO:0071677 biolink:NamedThing positive regulation of mononuclear cell migration Any process that increases the rate, frequency or extent of mononuclear cell migration. Mononuclear cell migration is the movement of a mononuclear cell within or between different tissues and organs of the body. tmpxe7fu0cj_hp_relaxed.owl upregulation of mononuclear cell migration|up regulation of mononuclear cell migration|up-regulation of mononuclear cell migration|stimulation of mononuclear cell migration|activation of mononuclear cell migration mah 2010-02-16T02:15:29Z biological_process owl:Class HP:0002245 biolink:NamedThing Meckel diverticulum Meckel's diverticulum is a congenital diverticulum located in the distal ileum. tmpxe7fu0cj_hp_relaxed.owl MEDDRA:10027055|SNOMEDCT_US:127962001|SNOMEDCT_US:37373007|UMLS:C0025037|MSH:D008467 human_phenotype owl:Class HP:0001549 biolink:NamedThing Abnormal ileum morphology tmpxe7fu0cj_hp_relaxed.owl Abnormality of the ileum UMLS:C4025762 peter 2008-02-20T11:05:00Z human_phenotype owl:Class HP:0004795 biolink:NamedThing Hamartomatous stomach polyps Polyp-like protrusions which are histologically hamartomas located in the stomach. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1862304 human_phenotype owl:Class HP:0006753 biolink:NamedThing Neoplasm of the stomach A tumor (abnormal growth of tissue) of the stomach. tmpxe7fu0cj_hp_relaxed.owl Neoplasia of the stomach|Stomach tumor|Stomach tumour MSH:D013274|UMLS:C0038356|SNOMEDCT_US:126824007|UMLS:C4020813|NCIT:C3262 human_phenotype owl:Class MPATH:555 biolink:NamedThing mineralisation Deposition of any homogeneous inorganic material. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class MPATH:33 biolink:NamedThing intracellular and extracellular accumulation Accumulation of substances within, on the surface of or between cells. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class NCBITaxon:1437180 biolink:NamedThing Acrogymnospermae tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:58024 biolink:NamedThing Spermatophyta tmpxe7fu0cj_hp_relaxed.owl seed plants GC_ID:1 ncbi_taxonomy owl:Class HP:0003429 biolink:NamedThing CNS hypomyelination Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. tmpxe7fu0cj_hp_relaxed.owl hypomyelination UMLS:C0544820|UMLS:C4025616|SNOMEDCT_US:111007000 human_phenotype owl:Class HP:0011400 biolink:NamedThing Abnormal CNS myelination An abnormality of myelination of nerves in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl Abnormal formation of myelin sheaths UMLS:C4021152 In the CNS, myelin is the product of oligodendrocytes (and not of Schwann cells, as in the PNS). This term refers to an abnormality of the process in which myelin sheaths are formed and maintained around neurons or the result of such an abnormality. peter 2012-03-12T07:24:42Z HP:0004335|HP:0002520 owl:Class HP:0004049 biolink:NamedThing Decreased carpal angles of wrist tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025416 human_phenotype owl:Class HP:0003019 biolink:NamedThing Abnormality of the wrist Abnormality of the wrist, the structure connecting the hand and the forearm. tmpxe7fu0cj_hp_relaxed.owl Abnormalities of the wrists|Abnormality of the wrist UMLS:C4021744 HP:0001224 human_phenotype owl:Class GO:0006066 biolink:NamedThing alcohol metabolic process The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. tmpxe7fu0cj_hp_relaxed.owl alcohol metabolism biological_process owl:Class GO:1901615 biolink:NamedThing organic hydroxy compound metabolic process The chemical reactions and pathways involving organic hydroxy compound. tmpxe7fu0cj_hp_relaxed.owl organic hydroxy compound metabolism pr 2012-11-13T12:54:27Z biological_process owl:Class HP:0009644 biolink:NamedThing Curved distal phalanx of the thumb A deviation from the normal straight shape of the distal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Curved outermost bone of the thumb UMLS:C4024259 doelkens 2009-01-29T05:19:33Z human_phenotype owl:Class HP:0009838 biolink:NamedThing Curved distal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Curved outermost finger bone of the hand UMLS:C4024188 doelkens 2009-03-11T12:10:11Z HP:0009862 human_phenotype owl:Class UBERON:0005733 biolink:NamedThing limb field A ring of cells capable of forming a limb. tmpxe7fu0cj_hp_relaxed.owl limb field of lateral plate mesoderm the central portion of the limb field gives rise to the limb proper. mesenchyme cells proliferate from from the somatic layer of limb field lateral plate mesoderm (limb skeletal precursors) and from the somites (limb muscle precursors) . these mesenchymal cells accumulate under the ectedermal tissue to make a limb bud. // The lateral plate mesoderm in the limb field is also special in that it will induce myoblasts to migrate out from the somites and enter the limb bud. No other region of the lateral plate mesoderm will do that (Hayashi and Ozawa 1995) uberon owl:Class UBERON:0005732 biolink:NamedThing paired limb/fin field A ring of cells capable of forming a limb or paired fin[Gilbert,modified]. tmpxe7fu0cj_hp_relaxed.owl limb/fin field of lateral plate mesoderm|paired limb/fin field we represent the field as being a part of the LPM (consistent with ZFA, Gilbert). As a consequence, the relationship between limb bud (with is ectoderm+mesenchyme) stands in a weaker has_developmental_contribution_from relation to the field - TODO implement this. uberon owl:Class GO:0106016 biolink:NamedThing positive regulation of inflammatory response to wounding Any process that activates or increases the frequency, rate or extent of the inflammatory response to wounding. tmpxe7fu0cj_hp_relaxed.owl hjd 2017-04-28T20:16:31Z biological_process owl:Class GO:1903036 biolink:NamedThing positive regulation of response to wounding Any process that activates or increases the frequency, rate or extent of response to wounding. tmpxe7fu0cj_hp_relaxed.owl up-regulation of response to wounding|activation of response to wounding|up-regulation of physiological response to wounding|upregulation of physiological response to wounding|up regulation of response to wounding|positive regulation of physiological response to wounding|activation of physiological response to wounding|upregulation of response to wounding|up regulation of physiological response to wounding kmv 2014-05-18T01:28:58Z biological_process owl:Class GO:0008104 biolink:NamedThing protein localization Any process in which a protein is transported to, or maintained in, a specific location. tmpxe7fu0cj_hp_relaxed.owl establishment and maintenance of asymmetric protein localization|asymmetric protein localisation|protein localisation|asymmetric protein localization|establishment and maintenance of protein localization GO:0008105 biological_process owl:Class GO:0051179 biolink:NamedThing localization Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. tmpxe7fu0cj_hp_relaxed.owl single organism localization|establishment and maintenance of substrate location|single-organism localization|establishment and maintenance of position|establishment and maintenance of localization|establishment and maintenance of cellular component location|localisation|establishment and maintenance of substance location jl 2013-12-18T13:51:04Z GO:1902578 biological_process owl:Class HP:0010120 biolink:NamedThing Pseudoepiphyses of the hallux tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024039 doelkens 2009-05-29T01:16:38Z owl:Class HP:0012383 biolink:NamedThing Bidirectional shunt Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0428872|SNOMEDCT_US:13352000 peter 2013-10-16T11:54:45Z human_phenotype owl:Class HP:0001693 biolink:NamedThing Cardiac shunt Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0232180|SNOMEDCT_US:442119001 human_phenotype owl:Class HP:0011984 biolink:NamedThing Atretic gallbladder Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia. tmpxe7fu0cj_hp_relaxed.owl Gallbladder atresia UMLS:C3277945 peter 2012-07-19T10:26:35Z human_phenotype owl:Class HP:0011466 biolink:NamedThing Aplasia/Hypoplasia of the gallbladder Absence or underdevelopment of the gallbladder. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped gallbladder|Absent/small gallbladder UMLS:C4023344 peter 2012-03-25T07:40:20Z human_phenotype owl:Class UBERON:0008867 biolink:NamedThing trabecular network of bone The network of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force. tmpxe7fu0cj_hp_relaxed.owl bone trabecula|bone trabeculae UMLS:C2826619|NCIT:C82999 consider revision - we have 3 classes, the tissue itself, the network, and the spaces. uberon owl:Class HP:0011642 biolink:NamedThing Abnormal coronary sinus morphology An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the coronary sinus SNOMEDCT_US:253323000|UMLS:C0344680|Fyler:2840 peter 2012-04-09T09:02:09Z human_phenotype owl:Class HP:0005120 biolink:NamedThing Abnormal cardiac atrium morphology Any structural abnormality of a cardiac atrium. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cardiac atrium morphology|Abnormality of heart atrium UMLS:C4025246 peter 2008-03-26T04:12:00Z owl:Class PR:P01101 biolink:NamedThing proto-oncogene c-Fos (mouse) A proto-oncogene c-Fos that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl Fos|mFOS|cellular oncogene fos (mouse) UniProtKB:P01101 Category=organism-gene. protein owl:Class PR:000007597 biolink:NamedThing proto-oncogene c-Fos A protein that is a translation product of the human FOS gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl proto-oncogene protein c-fos|G0S7|G0/G1 switch regulatory protein 7|FOS|cellular oncogene fos Category=gene. Requested by=CL. protein owl:Class GO:0070446 biolink:NamedThing negative regulation of oligodendrocyte progenitor proliferation Any process that stops or decreases the rate or extent of oligodendrocyte progenitor proliferation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of oligodendrocyte precursor proliferation biological_process owl:Class GO:2000178 biolink:NamedThing negative regulation of neural precursor cell proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of neural precursor cell proliferation. tmpxe7fu0cj_hp_relaxed.owl dph 2010-10-13T12:40:43Z biological_process owl:Class HP:0012565 biolink:NamedThing Premature epimetaphyseal fusion in fibula Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021838 peter 2014-01-04T02:08:23Z human_phenotype owl:Class HP:0010588 biolink:NamedThing Premature epimetaphyseal fusion Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. tmpxe7fu0cj_hp_relaxed.owl Premature closure of epiphyses SNOMEDCT_US:89493005|UMLS:C0151628 The epiphysis is the rounded end of a long bone, at its joint with adjacent bone. sandra1 2009-10-22T02:53:19Z human_phenotype owl:Class UBERON:0002077 biolink:NamedThing cortex of hair A cortex that is part of a hair [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl cortex of coat hair|coat hair cortex|hair cortex|cortex of coat/hair|coat/hair cortex FMA:70934|MA:0000156|EMAPA:35387 uberon owl:Class HP:0031686 biolink:NamedThing Increased stool alpha1-antitrypsin concentration An abnormally elevated amount of alpha1-antitrypsin in the feces. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 21:09:20+00:00 Alpha-1-antitrypsin is resistant to degradation by digestive enzymes and can therefore be used as a marker for the presence of blood proteins in the intestinal tract (e.g., protein-losing enteropathy). peter owl:Class HP:0031685 biolink:NamedThing Abnormal stool composition Abnormal level of metabolite or other abnormal analyte result in a stool test. tmpxe7fu0cj_hp_relaxed.owl Abnormal fecal test result|Abnormal faeces composition|Abnormal feces composition 2017-12-17 21:04:26+00:00 peter HP:0032483 owl:Class UBERON:0000219 biolink:NamedThing vertebral foramen of atlas tmpxe7fu0cj_hp_relaxed.owl vertebral foramen of cervical vertebra 1 FMA:24293 uberon owl:Class UBERON:0004760 biolink:NamedThing gland of anal canal A gland that is part of an anal canal [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl anal gland|gland of anal canal|rectal gland|anal sac|gland of anus FMA:15720|FMA:15724|EMAPA:27233|UMLS:C0162322|EMAPA:27543|EMAPA:27221|NCIT:C32068 uberon owl:Class HP:0041217 biolink:NamedThing Fractured shoulder A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint. tmpxe7fu0cj_hp_relaxed.owl bone shoulder joint owl:Class HP:0020110 biolink:NamedThing Bone fracture A partial or complete breakage of the continuity of a bone. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 20:45:29+00:00 robinp owl:Class HP:0002632 biolink:NamedThing Low-to-normal blood pressure tmpxe7fu0cj_hp_relaxed.owl Low-to-normal BP|Low-to-normal blood pressure UMLS:C1866500 human_phenotype owl:Class HP:0002615 biolink:NamedThing Hypotension Low Blood Pressure, vascular hypotension. tmpxe7fu0cj_hp_relaxed.owl Low blood pressure|Arterial hypotension UMLS:C0020649|MSH:D007022|SNOMEDCT_US:45007003 HP:0006701|HP:0005127 human_phenotype owl:Class GO:0051055 biolink:NamedThing negative regulation of lipid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. tmpxe7fu0cj_hp_relaxed.owl negative regulation of lipid biosynthesis|down regulation of lipid biosynthetic process|down-regulation of lipid biosynthetic process|negative regulation of lipid synthesis|negative regulation of lipogenesis|downregulation of lipid biosynthetic process|negative regulation of lipid anabolism|negative regulation of lipid formation|inhibition of lipid biosynthetic process biological_process owl:Class GO:0009890 biolink:NamedThing negative regulation of biosynthetic process Any process that stops, prevents, or reduces the rate of the chemical reactions and pathways resulting in the formation of substances. tmpxe7fu0cj_hp_relaxed.owl down-regulation of biosynthetic process|negative regulation of formation|downregulation of biosynthetic process|negative regulation of anabolism|negative regulation of biosynthesis|down regulation of biosynthetic process|negative regulation of synthesis|inhibition of biosynthetic process biological_process owl:Class HP:0001177 biolink:NamedThing Preaxial hand polydactyly Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. tmpxe7fu0cj_hp_relaxed.owl thumb polydactyly|Supernumerary thumb|Extra thumb|Polydactyly affecting the thumb|Preaxial polydactyly of hands SNOMEDCT_US:445216006|MSH:C536332|SNOMEDCT_US:205135003|UMLS:C1395852 HP:0006182|HP:0009604|HP:0005629|HP:0005634 human_phenotype owl:Class HP:0001172 biolink:NamedThing Abnormal thumb morphology An abnormal structure of the first digit of the hand. tmpxe7fu0cj_hp_relaxed.owl Thumb deformity|Abnormality of the thumbs|Abnormality of the thumb UMLS:C0575897|SNOMEDCT_US:299130003|MSH:C536903 human_phenotype owl:Class UBERON:0011272 biolink:NamedThing embryonic skin basal layer tmpxe7fu0cj_hp_relaxed.owl outer epithelium of body|basal cell layer of skin EHDAA2:0001845 compare with 'stratum basale of epidermis'. This class is the source for many adult structures - see WP2062. See also: 'enveloping layer of ectoderm' uberon owl:Class GO:0071692 biolink:NamedThing protein localization to extracellular region Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location. tmpxe7fu0cj_hp_relaxed.owl protein localisation in extracellular region|protein localization in extracellular region mah 2010-02-25T04:00:13Z biological_process owl:Class HP:0031139 biolink:NamedThing Frog-leg posture A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 22:38:18+00:00 peter owl:Class HP:0001252 biolink:NamedThing Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. tmpxe7fu0cj_hp_relaxed.owl Low or weak muscle tone|Peripheral hypotonia|Low muscle tone|Central hypotonia|Muscular hypotonia|Muscle hypotonia MSH:D009123|SNOMEDCT_US:398151007|UMLS:C0026827|SNOMEDCT_US:398152000 Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features. HP:0011398 owl:Class UBERON:0004992 biolink:NamedThing mucosa of descending colon A mucosa that is part of a descending colon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl descending colon mucosa|descending colon mucosa of organ|descending colon organ mucosa|mucosa of organ of descending colon|organ mucosa of descending colon|mucous membrane of descending colon|descending colon mucous membrane FMA:15019 uberon owl:Class CHEBI:28689 biolink:NamedThing dehydroepiandrosterone An androstanoid that is androst-5-ene substituted by a beta-hydroxy group at position 3 and an oxo group at position 17. It is a naturally occurring steroid hormone produced by the adrenal glands. tmpxe7fu0cj_hp_relaxed.owl Intrarosa|DHA|3beta-hydroxyandrost-5-en-17-one|Dehydroepiandrosterone|3-BETA-HYDROXY-5-ANDROSTEN-17-ONE|Dehydroisoandrosterone|Prasterone|3beta-Hydroxyandrost-5-en-17-one|DHEA 0 C19H28O2 InChI=1S/C19H28O2/c1-18-9-7-13(20)11-12(18)3-4-14-15-5-6-17(21)19(15,2)10-8-16(14)18/h3,13-16,20H,4-11H2,1-2H3/t13-,14-,15-,16-,18-,19-/m0/s1 FMGSKLZLMKYGDP-USOAJAOKSA-N 288.42440 288.20893 [H][C@@]12CC=C3C[C@@H](O)CC[C@]3(C)[C@@]1([H])CC[C@]1(C)C(=O)CC[C@@]21[H] MetaCyc:3-BETA-HYDROXYANDROST-5-EN-17-ONE|PMID:18634257|KEGG:C01227|DrugBank:DB01708|Wikipedia:Dehydroepiandrosterone|PMID:14662261|Drug_Central:795|CAS:53-43-0|PDBeChem:AND|PMID:24256992|Reaxys:2058110|PMID:24424045|HMDB:HMDB0000077|KEGG:D08409|LIPID_MAPS_instance:LMST02020021 CHEBI:20246|CHEBI:1723|CHEBI:11911|CHEBI:86953|CHEBI:40738 chebi_ontology owl:Class CHEBI:1722 biolink:NamedThing 3beta-hydroxy-Delta(5)-steroid Any 3beta-hydroxy-steroid that contains a double bond between positions 5 and 6. tmpxe7fu0cj_hp_relaxed.owl 3beta-hydroxy Delta(5)-steroids|3beta-hydroxy-Delta(5)-steroids|a 3beta-hydroxy-Delta(5)-steroid 0 C19H29OR 273.434 273.22184 C12C(C3C(C(CC3)*)(C)CC1)CC=C4C2(CC[C@@H](C4)O)C MetaCyc:3b-hydroxy-D5-steroids|KEGG:C03836 CHEBI:20245|CHEBI:136845|CHEBI:13608 chebi_ontology owl:Class HP:0006208 biolink:NamedThing Metaphyseal cupping of proximal phalanges Metaphyseal cupping affecting the proximal phalanges. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1834980 human_phenotype owl:Class HP:0003021 biolink:NamedThing Metaphyseal cupping Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1837082 human_phenotype owl:Class CL:0000839 biolink:NamedThing myeloid lineage restricted progenitor cell A progenitor cell restricted to the myeloid lineage. tmpxe7fu0cj_hp_relaxed.owl myeloid progenitor cell CALOHA:TS-2099|BTO:0004730|FMA:70339 Note that this is a class of cell types, not an identified single cell type. cell owl:Class CL:0011026 biolink:NamedThing progenitor cell A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses. tmpxe7fu0cj_hp_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class HP:0025070 biolink:NamedThing Abnormal U wave An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3. tmpxe7fu0cj_hp_relaxed.owl 2016-09-26 10:36:56+00:00 U waves represent prolonged repolarisation of myocardial M cells. Under normal conditions the M cells are electrically coupled to adjacent cell layers. However, in conditions that produce electrical uncoupling, these M cells have significant effects on repolarisation producing prolonged rounded ST-T waves or U waves. The finding of U wave inversion on an ECG at rest or baseline is a non-specific finding. It is significant when observed post exercise, being originally described in early 1940s. Subsequent studies in the late 1970s, demonstrated a significant correlation of U wave inversion with either left main or LAD disease. HPO:probinson owl:Class HP:0003115 biolink:NamedThing Abnormal EKG Abnormal rhythm of the heart. tmpxe7fu0cj_hp_relaxed.owl EKG abnormality|Abnormal electrocardiogram|Abnormal ECG|Abnormal EKG SNOMEDCT_US:102594003|UMLS:C0522055 human_phenotype owl:Class CL:0000845 biolink:NamedThing marginal zone B cell of spleen A mature B cell that is located in the marginal zone of the spleen with the phenotype CD23-negative and CD21-positive and expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL. This cell type is also described as being CD19-positive, B220-positive, IgM-high, AA4-negative, CD35-high. tmpxe7fu0cj_hp_relaxed.owl marginal zone B-lymphocyte|MZ B lymphocyte|MZ B-cell|MZ B-lymphocyte|marginal zone B-cell|MZ B cell|B cell of marginal zone of spleen|marginal zone of spleen B cell|marginal zone B cell|marginal zone B lymphocyte MZ B cells are reportedly CD1-positive (mice), CD20-positive, CD48-positive, CD84-positive, CD150-positive, CD229-positive, and CD352-positive. cell owl:Class CL:2000074 biolink:NamedThing splenocyte Any leukocyte that is part of a spleen. tmpxe7fu0cj_hp_relaxed.owl Splenocytes is a vague term that refers to any one of the different white blood cell types in the spleen. This name is seen many references as such and is not explained further, necessitating a need for this terminology. TermGenie 2014-11-05T01:26:50Z cell owl:Class UBERON:0014686 biolink:NamedThing angular vein The angular vein formed by the junction of the frontal vein and supraorbital vein, runs obliquely downward, on the side of the root of the nose, to the level of the lower margin of the orbit, where it becomes the anterior facial vein. It receives the external nasal veins of the ala nasi, and communicates with the superior ophthalmic vein through the nasofrontal vein, thus establishing an important anastomosis between the anterior facial vein and the cavernous sinus. tmpxe7fu0cj_hp_relaxed.owl FMA:50893 uberon owl:Class HP:0430018 biolink:NamedThing Abnormality of nasal musculature An abnormality of the muscles of the structure of the nose. tmpxe7fu0cj_hp_relaxed.owl Abnormality of muscle of nose|Abnormality of nasal musculature|Abnormality of musculature of the nose UMLS:C4073200 owl:Class UBERON:0003248 biolink:NamedThing epithelium of footplate An epithelium that is part of a footplate. tmpxe7fu0cj_hp_relaxed.owl foot plate epithelium|footplate epithelium EMAPA:32655|EHDAA:6144|EHDAA2:0000548|EHDAA:5145 uberon owl:Class GO:0035050 biolink:NamedThing embryonic heart tube development The process whose specific outcome is the progression of the embryonic heart tube over time, from its formation to the mature structure. The heart tube forms as the heart rudiment from the heart field. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0060429 biolink:NamedThing epithelium development The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0002711 biolink:NamedThing positive regulation of T cell mediated immunity Any process that activates or increases the frequency, rate, or extent of T cell mediated immunity. tmpxe7fu0cj_hp_relaxed.owl positive regulation of T-lymphocyte mediated immunity|positive regulation of T-cell mediated immunity|upregulation of T cell mediated immunity|up regulation of T cell mediated immunity|up-regulation of T cell mediated immunity|positive regulation of T lymphocyte mediated immunity|activation of T cell mediated immunity|stimulation of T cell mediated immunity biological_process owl:Class GO:0002824 biolink:NamedThing positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0005983 biolink:NamedThing heart layer The laminar structure of the heart. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0004452 biolink:NamedThing carpal region A mesopodium that is part of a manus. Includes as parts the carpal skeleton and associated tissues[cjm]. The anatomical region surrounding the carpus including the distal parts of the bones of the forearm and the proximal parts of the metacarpus or five metacarpal bones and the series of joints between these bones, thus referred to as wrist joints. This region also includes the carpal tunnel, the anatomical snuff box, the flexor retinaculum, and the extensor retinaculum[WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl manus mesopodium|regio carpalis|carpal segment|carpus|wrist region|fore mesopodium|fore basipodium|carpus of fore-paw|carpal limb segment|articulatio radiocarpea|hand mesopodium|wrist EHDAA:5196|EHDAA2:0000218|galen:Wrist|EMAPA:19122|MA:0000039|GAID:59|MESH:D014953|EMAPA:32784|OpenCyc:Mx4rvVjncpwpEbGdrcN5Y29ycA|FMA:24922|NCIT:C111033 Human:wrist.png|Hand:parts.jpg UBERON:0001462 uberon owl:Class UBERON:0008785 biolink:NamedThing upper limb segment A limb segment that is part of a forelimb. tmpxe7fu0cj_hp_relaxed.owl free upper limb segment|free upper limb subdivision|segment of free upper limb|subdivision of free upper limb FMA:24876 uberon owl:Class PR:000009978 biolink:NamedThing lactotransferrin tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0004016 biolink:NamedThing dermatome A transitional population of migrating mesenchymal cells that derive from somites and that will become dermal cells. tmpxe7fu0cj_hp_relaxed.owl mesenchyma dermatomiale|epimere mesoderm|dermatomal mesenchyme|cutis plate EHDAA2_RETIRED:0003428|EHDAA:1737|FMA:295656|AEO:0001017|EHDAA:1725|UMLS:C0180383|NCIT:C61572|AAO:0011028|EHDAA:1731|EHDAA:1719|EMAPA:32838|XAO:0000220|Wikipedia:Dermatome_(embryology) http://upload.wikimedia.org/wikipedia/commons/f/f3/Gray64.png uberon owl:Class Not to be confused with 'dermatome segment of skin'. UBERON:0017650 biolink:NamedThing developing mesenchymal structure A mesenchyme-derived anatomical entity undergoing a transtion to become another structure. tmpxe7fu0cj_hp_relaxed.owl AEO:0001016 uberon owl:Class HP:0009160 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 5th finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Absent end part of the innermost bone of little finger|Absent end part of the innermost bone of pinkie finger|Absent end part of the innermost bone of pinky finger UMLS:C4024564 peter 2008-12-22T05:50:39Z human_phenotype owl:Class CL:0000521 biolink:NamedThing fungal cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class CHEBI:26712 biolink:NamedThing sodium molecular entity tmpxe7fu0cj_hp_relaxed.owl sodium molecular entities|sodium compounds chebi_ontology owl:Class UBERON:0004067 biolink:NamedThing lateral nasal prominence The lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it. tmpxe7fu0cj_hp_relaxed.owl latero-nasal process|lateral nasal process|prominentia nasalis lateralis|lateral nasal swelling EHDAA2:0000916|FMA:295864|EHDAA:4786|EMAPA:16805 http://upload.wikimedia.org/wikipedia/commons/2/2d/Gray48.png uberon owl:Class HP:0012081 biolink:NamedThing Enlarged cerebellum An abnormally increased size of the cerebellum compared to other brain structures. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3278024 peter 2012-08-18T05:29:26Z owl:Class GO:0015671 biolink:NamedThing oxygen transport The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0015669 biolink:NamedThing gas transport The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0060487 biolink:NamedThing lung epithelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell that contributes to the epithelium of the lung. tmpxe7fu0cj_hp_relaxed.owl pulmonary epithelial cell differentiation biological_process owl:Class GO:0030855 biolink:NamedThing epithelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class MAXO:0010320 biolink:NamedThing CT pulmonary angiogram The use of computed tomography to produce images of structures of the pulmonary vascular system. tmpxe7fu0cj_hp_relaxed.owl CT scan for pulmonary embolism|pulmonary vascular system computed tomography|pulmonary vascular system CT examination|CT of pulmonary vascular system|pulmonary vascular system CAT scan|pulmonary vascular system computerized axial tomography|CAT scan of pulmonary vascular system|CT PE 2020-04-07T20:39:14Z http://orcid.org/0000-0001-7941-3010 owl:Class HP:0033631 biolink:NamedThing Spondylitis Inflammation of the vertebrae (vertebral bodies) or spine. tmpxe7fu0cj_hp_relaxed.owl 2021-02-01 13:12:34+00:00 peter owl:Class HP:0100917 biolink:NamedThing Sclerosis of proximal finger phalanx An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in innermost finger bone|Sclerosis of the proximal phalanges of the hand UMLS:C4020938 human_phenotype owl:Class HP:0100600 biolink:NamedThing Penoscrotal transposition A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis. tmpxe7fu0cj_hp_relaxed.owl Prepenile scrotum UMLS:C1868854|MSH:C536650|SNOMEDCT_US:312005008 doelkens 2010-12-27T05:19:57Z owl:Class GO:1903225 biolink:NamedThing negative regulation of endodermal cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of endodermal cell differentiation. tmpxe7fu0cj_hp_relaxed.owl down regulation of endodermal cell differentiation|down-regulation of endoderm cell differentiation|inhibition of endodermal cell differentiation|inhibition of endoderm cell differentiation|downregulation of endoderm cell differentiation|down regulation of endoderm cell differentiation|downregulation of endodermal cell differentiation|negative regulation of endoderm cell differentiation|down-regulation of endodermal cell differentiation als 2014-07-29T13:22:41Z biological_process owl:Class GO:0002285 biolink:NamedThing lymphocyte activation involved in immune response A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpxe7fu0cj_hp_relaxed.owl lymphocyte activation during immune response biological_process owl:Class GO:0002366 biolink:NamedThing leukocyte activation involved in immune response A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpxe7fu0cj_hp_relaxed.owl leukocyte activation during immune response|leucocyte activation during immune response|immune cell activation during immune response biological_process owl:Class GO:0032369 biolink:NamedThing negative regulation of lipid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl inhibition of lipid transport|down regulation of lipid transport|down-regulation of lipid transport|downregulation of lipid transport biological_process owl:Class GO:0032368 biolink:NamedThing regulation of lipid transport Any process that modulates the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0015130 biolink:NamedThing connective tissue of prostate gland A portion of connective tissue that is part of a prostate gland. tmpxe7fu0cj_hp_relaxed.owl connective tissue of prostate FMA:74165 uberon owl:Class UBERON:0003508 biolink:NamedThing pedal digit blood vessel A blood vessel that is part of a toe [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl toe blood vessel|foot digit blood vessel|digit of terminal segment of free lower limb blood vessel|blood vessel of foot digit|terminal segment of free lower limb digit blood vessel|blood vessel of digitus pedis|blood vessel of digit of terminal segment of free lower limb|blood vessel of toe|hind limb digit blood vessel|digit of foot blood vessel|blood vessel of digit of foot|blood vessel of terminal segment of free lower limb digit|digitus pedis blood vessel MA:0000645|EMAPA:37302 uberon owl:Class HP:0005686 biolink:NamedThing Patchy osteosclerosis Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Patchy increase of bone mineral density|Uneven increase in bone density UMLS:C1855845 human_phenotype owl:Class UBERON:0007261 biolink:NamedThing intervertebral disk of fourth cervical vertebra An intervertebral disk that connects a mammalian cervical vertebra 4 and connects a mammalian cervical vertebra 5. tmpxe7fu0cj_hp_relaxed.owl intervertebral disc of fourth cervical vertebra|intervertebral disk, C4-C5 FMA:13897|EMAPA:19425 uberon owl:Class HP:0000677 biolink:NamedThing Oligodontia The absence of six or more teeth from the normal series by a failure to develop. tmpxe7fu0cj_hp_relaxed.owl Failure of development of more than six teeth|Missing more than six teeth|Partial anodontia|Number of teeth decreased by more than six UMLS:C4082304|UMLS:C4280619 The diagnosis of oligodontia requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al, 2001]. HP:0000702 owl:Class HP:0009804 biolink:NamedThing Tooth agenesis The absence of one or more teeth from the normal series by a failure to develop tmpxe7fu0cj_hp_relaxed.owl Teeth, agenesis|Decreased number of teeth|Reduced number of teeth|Fewer teeth than normal|Tooth agenesis|Failure of development of some teeth|Dental agenesis|Decreased tooth count|Missing some teeth UMLS:C4083050|UMLS:C4024202 Teeth agenesis needs to be confirmed by X-rays. Teeth agenesis encompasses hypodontia, oligodontia, and anodontia. The total number and the type of teeth missing should be added to the description. The clinical absence of a tooth due to a disturbed eruption should not be termed teeth agenesis but a missing tooth. 2009-02-14T06:20:53Z owl:Class GO:0090257 biolink:NamedThing regulation of muscle system process Any process that modulates the frequency, rate or extent of a muscle system process, a multicellular organismal process carried out by any of the organs or tissues in a muscle system. tmpxe7fu0cj_hp_relaxed.owl tb 2010-02-03T11:48:13Z biological_process owl:Class GO:0044057 biolink:NamedThing regulation of system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0002372 biolink:NamedThing myeloid dendritic cell cytokine production Any process that contributes to cytokine production by a myeloid dendritic cell. tmpxe7fu0cj_hp_relaxed.owl Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select one of the 'regulation' children terms. biological_process owl:Class GO:0002444 biolink:NamedThing myeloid leukocyte mediated immunity Any process involved in the carrying out of an immune response by a myeloid leukocyte. tmpxe7fu0cj_hp_relaxed.owl myeloid leukocyte immune effector process|myeloid leucocyte mediated immunity|myeloid leucocyte immune effector process biological_process owl:Class CL:0000232 biolink:NamedThing erythrocyte A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen. tmpxe7fu0cj_hp_relaxed.owl red blood cell|RBC FMA:81100|BTO:0000424|CALOHA:TS-0290 cell owl:Class CL:0000081 biolink:NamedThing blood cell A cell found predominately in the blood. tmpxe7fu0cj_hp_relaxed.owl FMA:62844 cell owl:Class UBERON:0007829 biolink:NamedThing pectoral girdle bone A bone that is part of a pectoral girdle region. tmpxe7fu0cj_hp_relaxed.owl bone of pectoral girdle MA:0000292|EMAPA:35669 uberon owl:Class CHEBI:25697 biolink:NamedThing organic cation Any organic ion with a net positive charge. tmpxe7fu0cj_hp_relaxed.owl organic cations chebi_ontology owl:Class CHEBI:36916 biolink:NamedThing cation A monoatomic or polyatomic species having one or more elementary charges of the proton. tmpxe7fu0cj_hp_relaxed.owl Cation|Kationen|cation|cations|cationes|Kation KEGG:C01373 CHEBI:23058|CHEBI:3473 chebi_ontology owl:Class HP:0001083 biolink:NamedThing Ectopia lentis Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of lens position|Lens dislocation MSH:D007906|MSH:D004479|UMLS:C0013581|UMLS:C0023309|SNOMEDCT_US:74969002 HP:0007637|HP:0007882|HP:0000665|HP:0008016 human_phenotype owl:Class HP:0000517 biolink:NamedThing Abnormality of the lens An abnormality of the lens. tmpxe7fu0cj_hp_relaxed.owl Lens issue|Lens disease|Abnormality of the lens MSH:D007905|UMLS:C0023308|UMLS:C0549651|SNOMEDCT_US:10810001 human_phenotype owl:Class GO:0045603 biolink:NamedThing positive regulation of endothelial cell differentiation Any process that activates or increases the frequency, rate or extent of endothelial cell differentiation. tmpxe7fu0cj_hp_relaxed.owl upregulation of endothelial cell differentiation|stimulation of endothelial cell differentiation|up-regulation of endothelial cell differentiation|up regulation of endothelial cell differentiation|activation of endothelial cell differentiation biological_process owl:Class GO:0030858 biolink:NamedThing positive regulation of epithelial cell differentiation Any process that activates or increases the frequency, rate or extent of epithelial cell differentiation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of epithelial cell differentiation|activation of epithelial cell differentiation|up regulation of epithelial cell differentiation|upregulation of epithelial cell differentiation|stimulation of epithelial cell differentiation biological_process owl:Class HP:0010856 biolink:NamedThing EEG with periodic complexes Periodically occurring generalized periodic complexes. tmpxe7fu0cj_hp_relaxed.owl EEG: periodic complexes|Radermecker complexes UMLS:C4021212 peter 2010-07-11T08:38:52Z human_phenotype owl:Class HP:0010857 biolink:NamedThing EEG with periodic abnormalities Periodically recurring abnormalities in the EEG. tmpxe7fu0cj_hp_relaxed.owl EEG: periodic abnormalities UMLS:C4021211 peter 2010-07-11T08:39:39Z human_phenotype owl:Class HP:0010920 biolink:NamedThing Zonular cataract Zonular cataracts are defined to be cataracts that affect specific regions of the lens. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861821|MSH:C535342 Zonular cataracts include specific regions of the lens and include nuclear cataracts, which affect the fetal or embryonic lens nucleus and lamellar cataracts. These tend to affect lens fibers that are formed at the same time, resulting in a shell like opacity. Zonular cataracts can also be characterized as dense or pulverulent (dusty appearing), and can be accompanied by arcuate opacities extending into the lens cortex, called cortical riders. peter 2010-12-12T12:00:37Z HP:0007713 human_phenotype owl:Class CHEBI:29987 biolink:NamedThing glutamate(2-) A dicarboxylic acid dianion that is the conjugate base of glutamate(1-). tmpxe7fu0cj_hp_relaxed.owl 2-aminopentanedioate|glutamate(2-)|glutamic acid dianion|glutamate -2 C5H7NO4 InChI=1S/C5H9NO4/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H,7,8)(H,9,10)/p-2 WHUUTDBJXJRKMK-UHFFFAOYSA-L 145.11342 145.03860 NC(CCC([O-])=O)C([O-])=O Beilstein:4134100|Reaxys:4134100|Gmelin:327903 chebi_ontology owl:Class CHEBI:28965 biolink:NamedThing dicarboxylic acid dianion A carboxylic acid dianion obtained by deprotonation of both carboxy groups of any dicarboxylic acid. tmpxe7fu0cj_hp_relaxed.owl dicarboxylates|dicarboxylic acid dianions|dicarboxylic acid dianion|dicarboxylate|a dicarboxylate -2 C2O4R 88.019 87.97966 [O-]C(=O)[*]C([O-])=O CHEBI:38711|CHEBI:23689|CHEBI:13632|CHEBI:23688 chebi_ontology owl:Class HP:0009638 biolink:NamedThing Short proximal phalanx of thumb Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic/small proximal phalanx of the thumb|Short proximal thumb phalanx|Short proximal thumb bone|Short proximal phalanges of thumb UMLS:C1855091 doelkens 2009-01-29T05:11:02Z HP:0004079|HP:0006073 human_phenotype owl:Class HP:0005819 biolink:NamedThing Short middle phalanx of finger Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of the middle phalanges of the hand|Hypoplastic middle phalanges|Hypoplastic middle phalanx|Brachymesophalangy|Shortened middle finger bones|Short middle phalanges|Short middle bone of finger|Disproportionately short middle phalanges|Midphalangeal hypoplasia UMLS:C1846950 HP:0006068|HP:0010240|HP:0006081|HP:0001208 owl:Class GO:0060952 biolink:NamedThing cardiac glial cell development The process aimed at the progression of a cardiac glial cell over time, from its formation to the fully functional mature cell. tmpxe7fu0cj_hp_relaxed.owl dph 2009-09-29T03:09:24Z biological_process owl:Class GO:0021782 biolink:NamedThing glial cell development The process aimed at the progression of a glial cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025417 biolink:NamedThing Patulous urethra Urethra more open or expanded than normal. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 11:39:39+00:00 HPO:probinson owl:Class HP:0033836 biolink:NamedThing Abnormal intrarenal artery morphology An anomalous structure of an artery located in the kidney. tmpxe7fu0cj_hp_relaxed.owl Abnormal kidney arterial blood vessel morphology 2021-05-16 17:29:18+00:00 peter owl:Class HP:0030164 biolink:NamedThing Jaw claudication Pain in the jaw or ear induced by chewing or otherwise moving the jaw. tmpxe7fu0cj_hp_relaxed.owl Jaw pain while chewing UMLS:C0239064|SNOMEDCT_US:43922008 owl:Class UBERON:0001302 biolink:NamedThing right uterine tube A fallopian tube that is part of a right side of organism [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl right oviduct|right fallopian tube EMAPA:37369|UMLS:C0227900|NCIT:C33475|MA:0001717|FMA:18483 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern non-functional in monotremes[ISBN:978-0226870137] HP:0011547 biolink:NamedThing Absent left sided atrioventricular connection A defect where there is no connection between the left atrium and left ventricle. tmpxe7fu0cj_hp_relaxed.owl Absent left sided atrioventricular connexion UMLS:C0344629|SNOMEDCT_US:253290005 peter 2012-04-07T11:30:16Z human_phenotype owl:Class HP:0011546 biolink:NamedThing Abnormal atrioventricular connection An abnormality of the circulatory connection between atria and ventricles. tmpxe7fu0cj_hp_relaxed.owl Abnormal atrioventricular connexion SNOMEDCT_US:253274005|UMLS:C0344612 peter 2012-04-07T11:27:57Z human_phenotype owl:Class GO:0045719 biolink:NamedThing negative regulation of glycogen biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:2000113 biolink:NamedThing negative regulation of cellular macromolecule biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of cellular macromolecule biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of cellular macromolecule formation|negative regulation of cellular macromolecule synthesis|negative regulation of cellular biopolymer biosynthetic process|negative regulation of cellular macromolecule biosynthesis|negative regulation of cellular macromolecule anabolism tb 2010-09-15T08:55:48Z biological_process owl:Class HP:0000748 biolink:NamedThing Inappropriate laughter tmpxe7fu0cj_hp_relaxed.owl Inappropriate laughter UMLS:C0424304|SNOMEDCT_US:247985007 human_phenotype owl:Class HP:0000719 biolink:NamedThing Inappropriate behavior tmpxe7fu0cj_hp_relaxed.owl Inappropriate behaviour|Inappropriate behavior UMLS:C0233522|SNOMEDCT_US:112082005 owl:Class UBERON:0005088 biolink:NamedThing sebaceous gland placode A sebaceous gland placode is a thickening of the ectoderm that will give rise to the sebaceous gland bud[GO]. tmpxe7fu0cj_hp_relaxed.owl TODO - add bud uberon owl:Class UBERON:0005085 biolink:NamedThing ectodermal placode An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm[GO]. tmpxe7fu0cj_hp_relaxed.owl epithelial placode AEO:0000218 consder adding placodal ectoderm as a distinct class? Also place placodal ectoderm as develops_from ectoderm; need to check taxon-appropriateness uberon owl:Class With the exception of the adenohypophysis, homologues of the nonneurogenic placodes (e.g. placodes giving rise to the teeth, hair follicles and lens), appear to be lacking in invertebrate chordates. in GO, covers optic, otic, olfactory, mammary, hair, tooth, sebaceous - and also insect structures UBERON:0035045 biolink:NamedThing parotid gland intralobular duct Any of the tubular canals of the parotid gland located within the parenchymal (secretory) tissue i.e. within lobules; both intercalated and striated (secretory) ducts are intralobular ducts. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0041243 biolink:NamedThing Fractured proximal phalanx of manus A partial or complete breakage of the proximal phalanx of manus. tmpxe7fu0cj_hp_relaxed.owl bone proximal phalanx of manus owl:Class GO:0070665 biolink:NamedThing positive regulation of leukocyte proliferation Any process that activates or increases the frequency, rate or extent of leukocyte proliferation. tmpxe7fu0cj_hp_relaxed.owl stimulation of leukocyte proliferation|up regulation of leukocyte proliferation|up-regulation of leukocyte proliferation|activation of leukocyte proliferation|upregulation of leukocyte proliferation mah 2009-05-28T05:36:46Z biological_process owl:Class HP:0025523 biolink:NamedThing Abnormal morphology of the chordae tendinae of the mitral valve A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve. tmpxe7fu0cj_hp_relaxed.owl 2017-05-17 23:44:02+00:00 HPO:probinson owl:Class GO:0061036 biolink:NamedThing positive regulation of cartilage development Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpxe7fu0cj_hp_relaxed.owl dph 2010-02-09T03:41:35Z biological_process owl:Class GO:0061035 biolink:NamedThing regulation of cartilage development Any process that modulates the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpxe7fu0cj_hp_relaxed.owl dph 2010-02-09T03:41:35Z biological_process owl:Class HP:0003198 biolink:NamedThing Myopathy A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. tmpxe7fu0cj_hp_relaxed.owl Myopathic changes|Muscle tissue disease UMLS:C0026848|MSH:D009135|SNOMEDCT_US:129565002 The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. HP:0003802|HP:0003569|HP:0003742|HP:0003705 human_phenotype owl:Class HP:0041178 biolink:NamedThing Fractured distal phalanx of manual digit 4 A partial or complete breakage of the distal phalanx of manual digit 4. tmpxe7fu0cj_hp_relaxed.owl bone distal phalanx of manual digit 4 owl:Class HP:0041174 biolink:NamedThing Fractured distal phalanx of manus A partial or complete breakage of the distal phalanx of manus. tmpxe7fu0cj_hp_relaxed.owl bone distal phalanx of manus owl:Class UBERON:0007687 biolink:NamedThing kidney field Region of the embryo into the area in which the kidney rudiment will develop. tmpxe7fu0cj_hp_relaxed.owl kidney anlage uberon owl:Class GO:0003002 biolink:NamedThing regionalization The pattern specification process that results in the subdivision of an axis or axes in space to define an area or volume in which specific patterns of cell differentiation will take place or in which cells interpret a specific environment. tmpxe7fu0cj_hp_relaxed.owl pattern formation biological_process owl:Class GO:0006906 biolink:NamedThing vesicle fusion Fusion of the membrane of a transport vesicle with its target membrane. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0014831 biolink:NamedThing gastro-intestinal system smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the gastro-intestinal system. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The gastro-intestinal system generally refers to the digestive structures stretching from the mouth to anus, but does not include the accessory glandular organs (liver, pancreas and biliary tract). tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0006939 biolink:NamedThing smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length. tmpxe7fu0cj_hp_relaxed.owl visceral muscle contraction biological_process owl:Class PATO:0001957 biolink:NamedThing decreased variability of size A variability of size which is relatively low. tmpxe7fu0cj_hp_relaxed.owl low variability of size quality owl:Class PATO:0002301 biolink:NamedThing decreased quality A quality that has a value that is decreased compared to normal or average. tmpxe7fu0cj_hp_relaxed.owl 2011-06-16T06:40:15Z quality owl:Class GO:0042360 biolink:NamedThing vitamin E metabolic process The chemical reactions and pathways involving vitamin E, tocopherol, which includes a series of eight structurally similar compounds. Alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant. tmpxe7fu0cj_hp_relaxed.owl alpha-tocopherol metabolism|vitamin E metabolism|tocopherol metabolic process|tocopherol metabolism|alpha-tocopherol metabolic process biological_process owl:Class HP:0008936 biolink:NamedThing Muscular hypotonia of the trunk Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. tmpxe7fu0cj_hp_relaxed.owl Axial hypotonia|Truncal hypotonia|Low muscle tone in trunk UMLS:C1853743 HP:0002320 human_phenotype owl:Class GO:0050668 biolink:NamedThing positive regulation of homocysteine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving homocysteine. tmpxe7fu0cj_hp_relaxed.owl up regulation of homocysteine metabolic process|positive regulation of Hcy metabolic process|positive regulation of homocysteine metabolism|positive regulation of Hcy metabolism|activation of homocysteine metabolic process|stimulation of homocysteine metabolic process|up-regulation of homocysteine metabolic process|upregulation of homocysteine metabolic process biological_process owl:Class GO:0050666 biolink:NamedThing regulation of homocysteine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. tmpxe7fu0cj_hp_relaxed.owl regulation of Hcy metabolic process|regulation of homocysteine metabolism|regulation of Hcy metabolism biological_process owl:Class HP:0032789 biolink:NamedThing Focal aware behavior arrest seizure A focal behavior arrest seizure characterised by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal aware behaviour arrest seizure peter owl:Class NCBITaxon:6231 biolink:NamedThing Nematoda tmpxe7fu0cj_hp_relaxed.owl roundworms|Nemata|nematode|roundworm|nematodes GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1206794 biolink:NamedThing Ecdysozoa tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0034502 biolink:NamedThing protein localization to chromosome Any process in which a protein is transported to, or maintained at, a specific location on a chromosome. tmpxe7fu0cj_hp_relaxed.owl condensin localization to chromosome|protein localisation to chromosome biological_process owl:Class GO:0033365 biolink:NamedThing protein localization to organelle A process in which a protein is transported to, or maintained in, a location within an organelle. tmpxe7fu0cj_hp_relaxed.owl protein localisation to organelle|protein localization in organelle biological_process owl:Class GO:0071407 biolink:NamedThing cellular response to organic cyclic compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. tmpxe7fu0cj_hp_relaxed.owl cellular response to organic cyclic substance mah 2009-12-14T02:55:58Z biological_process owl:Class HP:0100147 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the middle bone of 3rd toe UMLS:C4022274 doelkens 2010-06-24T10:24:13Z human_phenotype owl:Class HP:0100056 biolink:NamedThing Bracket epiphyses of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of 3rd toe bone UMLS:C4022365 doelkens 2010-06-24T09:58:55Z human_phenotype owl:Class ENVO:01000254 biolink:NamedThing environmental system tmpxe7fu0cj_hp_relaxed.owl owl:Class RO:0002577 biolink:NamedThing system A material entity consisting of multiple components that are causally integrated. tmpxe7fu0cj_hp_relaxed.owl http://www.jbiomedsem.com/content/4/1/43 May be replaced by a BFO class, as discussed in http://www.jbiomedsem.com/content/4/1/43 Chris Mungall owl:Class UBERON:0013126 biolink:NamedThing vein of abdomen A vein that is part of a abdomen. tmpxe7fu0cj_hp_relaxed.owl abdominal vein SCTID:281473003 this class groups all veins that are in the abdomen. The term 'abdominal vein' may have specific meanings in different contexts. The lateral abdominal veins are present in fishes but usually merged or absent in tetrapods; in amphibians, the L&R abdominal veins merge into the ventral abdominal vein TODO mirror representation of abdominal aorta uberon owl:Class UBERON:0003497 biolink:NamedThing abdomen blood vessel A blood vessel that is part of an abdomen [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of abdomen MA:0000518 uberon UBERON:0012254 owl:Class UBERON:0005090 biolink:NamedThing muscle structure Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms[GO]. tmpxe7fu0cj_hp_relaxed.owl muscle|muscle element|musculus FBbt:00005073|EMAPA:32715|FMA:30316 in some organisms such as drosophila, muscles can be single cells. This class groups together all discrete muscle elements, from multicellular muscle organs in vertebrates, to individual single-cell muscles in drisophila uberon owl:Class GO:0010921 biolink:NamedThing regulation of phosphatase activity Any process that modulates the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1902494 biolink:NamedThing catalytic complex A protein complex which is capable of catalytic activity. tmpxe7fu0cj_hp_relaxed.owl enzyme complex bhm 2013-11-13T16:18:47Z cellular_component owl:Class GO:0032991 biolink:NamedThing protein-containing complex Any macromolecular complex composed of two or more polypeptide subunits, which may or may not be identical. Protein complexes may have other associated non-protein prosthetic groups, such as nucleotides, metal ions or carbohydrate groups.|A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. tmpxe7fu0cj_hp_relaxed.owl protein-protein complex|protein containing complex|macromolecular complex|macromolecule complex|protein complex Note that although at some level almost all cellular components can be thought of as protein complexes, this term is intended to exclude structures composed of the same repeating subunit or subunits, for example microtubules. Protein complexes encompassed by this term are generally not structural, and usually have a defined set of subunits.|A protein complex in this context is meant as a stable set of interacting proteins which can be co-purified by an acceptable method, and where the complex has been shown to exist as an isolated, functional unit in vivo. Acceptable experimental methods include stringent protein purification followed by detection of protein interaction. The following methods should be considered non-acceptable: simple immunoprecipitation, pull-down experiments from cell extracts without further purification, colocalization and 2-hybrid screening. Interactions that should not be captured as protein complexes include: 1) enzyme/substrate, receptor/ligand or any similar transient interactions, unless these are a critical part of the complex assembly or are required e.g. for the receptor to be functional; 2) proteins associated in a pull-down/co-immunoprecipitation assay with no functional link or any evidence that this is a defined biological entity rather than a loose-affinity complex; 3) any complex where the only evidence is based on genetic interaction data; 4) partial complexes, where some subunits (e.g. transmembrane ones) cannot be expressed as recombinant proteins and are excluded from experiments (in this case, independent evidence is necessary to find out the composition of the full complex, if known). Interactions that may be captured as protein complexes include: 1) enzyme/substrate or receptor/ligand if the complex can only assemble and become functional in the presence of both classes of subunits; 2) complexes where one of the members has not been shown to be physically linked to the other(s), but is a homologue of, and has the same functionality as, a protein that has been experimentally demonstrated to form a complex with the other member(s); 3) complexes whose existence is accepted based on localization and pharmacological studies, but for which experimental evidence is not yet available for the complex as a whole. GO:0043234 cellular_component owl:Class UBERON:0000970 biolink:NamedThing eye An organ that detects light. tmpxe7fu0cj_hp_relaxed.owl visual apparatus|light-detecting organ CALOHA:TS-0309|MIAA:0000140|EFO:0000827|MESH:D005123|BTO:0000439|BILA:0000017|OpenCyc:Mx4rvViTvpwpEbGdrcN5Y29ycA|GAID:69|MAT:0000140|FBbt:00005162|Wikipedia:Eye|EV:0100336 This class encompasses a variety of light-detecting structures from different phyla with no implication of homology, from the compound insect eye to the vertebrate camera-type eye (distinct classes are provided for each) uberon owl:Class ocular|optic Note that whilst this is classified as an organ, it is in fact more of a unit composed of different structures: in Drosophila, it includes the interommatidial bristle as a part; we consider here the vertebrate eye to include the eyeball/eye proper as a part, with the eye having as parts (when present): eyelids, conjuctiva, UBERON:0000020 biolink:NamedThing sense organ An organ that is capable of transducing sensory stimulus to the nervous system. tmpxe7fu0cj_hp_relaxed.owl sensory system organ|organ of sensory organ system|sensor|sensory organ|sensory organ system organ|Sinnesorgan|organ of sense organ system|sense organ system organ|organ of sensory system|sensillum BTO:0000202|GAID:63|EHDAA:500|HAO:0000930|SCTID:244485009|MESH:D012679|VHOG:0001407|BSA:0000121|WBbt:0006929|CALOHA:TS-2043|AEO:0000094|UMLS:C0935626|MA:0000017|EHDAA2:0001824|NCIT:C33224|FBbt:00005155|EMAPA:35955 http://upload.wikimedia.org/wikipedia/commons/c/c0/Gray722.png uberon owl:Class GO:0097186 biolink:NamedThing amelogenesis The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage. tmpxe7fu0cj_hp_relaxed.owl enamel development pr 2011-11-21T09:01:24Z biological_process owl:Class GO:0042475 biolink:NamedThing odontogenesis of dentin-containing tooth The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. tmpxe7fu0cj_hp_relaxed.owl odontogenesis of dentine-containing teeth|odontogeny|tooth development|odontosis|odontogenesis of dentine-containing tooth Note that placoid scales found in the cartilaginous fishes presumably develop through the same processes, but are found on the dermis, rather than in the mouth or pharynx. See Wikipedia:Placoid_scale#Placoid_scales. biological_process owl:Class HP:0012211 biolink:NamedThing Abnormal renal physiology An abnormal functionality of the kidney. tmpxe7fu0cj_hp_relaxed.owl Renal functional abnormality|Abnormal kidney function|Abnormality of renal physiology|Abnormal renal function|Kidney function issue UMLS:C0151746|SNOMEDCT_US:39539005 peter 2013-03-14T07:43:34Z HP:0008646|HP:0000087|HP:0000082|HP:0005566 human_phenotype owl:Class HP:0011277 biolink:NamedThing Abnormality of the urinary system physiology tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023437 peter 2011-12-30T02:51:16Z human_phenotype owl:Class UBERON:0018594 biolink:NamedThing upper lateral primary incisor tooth A upper primary canine tooth that is in_the_lateral_side_of a dentition. tmpxe7fu0cj_hp_relaxed.owl upper primary tooth B|upper lateral deciduous incisor tooth FMA:84217 uberon owl:Class UBERON:0018554 biolink:NamedThing primary lateral incisor tooth tmpxe7fu0cj_hp_relaxed.owl primary lateral incisor uberon owl:Class UBERON:0001169 biolink:NamedThing wall of large intestine An anatomical wall that is part of a large intestine [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl anatomical wall of large intestine|large intestine anatomical wall|large intestine wall|large intestinal wall MA:0002695|FMA:14619|EMAPA:35470 uberon owl:Class UBERON:0001262 biolink:NamedThing wall of intestine An anatomical wall that is part of a intestine [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl wall of bowel|anatomical wall of bowel|bowel wall|intestine wall|intestine anatomical wall|bowel anatomical wall|intestinal wall|anatomical wall of intestine MA:0001525|MA:0002693|BTO:0000647|FMA:15949|UMLS:C1708548|EMAPA:35444|NCIT:C49478 we place two MA classes here due to the official ncit2ma mapping to intestinal wall tissue; not clear how bowel and intestine are different uberon owl:Class GO:0050810 biolink:NamedThing regulation of steroid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpxe7fu0cj_hp_relaxed.owl regulation of steroidogenesis|regulation of steroid biosynthesis|regulation of steroid anabolism|regulation of steroid synthesis|regulation of steroid formation biological_process owl:Class GO:0070977 biolink:NamedThing bone maturation A developmental process, independent of morphogenetic (shape) change, that is required for bone to attain its fully functional state. tmpxe7fu0cj_hp_relaxed.owl mah 2009-10-05T04:35:31Z biological_process owl:Class GO:0048799 biolink:NamedThing animal organ maturation A developmental process, independent of morphogenetic (shape) change, that is required for an animal organ to attain its fully functional state. An organ is a tissue or set of tissues that work together to perform a specific function or functions. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0033770 biolink:NamedThing Gastric adenocarcinoma An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia. tmpxe7fu0cj_hp_relaxed.owl 2021-04-30 14:02:59+00:00 Ninety percent of all tumors of the stomach are malignant, and gastric adenocarcinoma comprises 95% of the total number of malignancies. peter owl:Class HP:0030537 biolink:NamedThing Unaided visual acuity 0.2 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073011 owl:Class CHEBI:33842 biolink:NamedThing aromatic annulene tmpxe7fu0cj_hp_relaxed.owl aromatic annulenes chebi_ontology owl:Class CHEBI:33847 biolink:NamedThing monocyclic arene A monocyclic aromatic hydrocarbon. tmpxe7fu0cj_hp_relaxed.owl monocyclic arenes chebi_ontology owl:Class UBERON:0035091 biolink:NamedThing extrinsic post-anal tail muscle A post-anal tail that attaches outside the tail. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0003665 biolink:NamedThing post-anal tail muscle A muscle organ that attaches to a tail vertebra [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscle organ of tail|muscle organ of post-vent region|caudal muscle|post-vent region muscle organ|tail muscle|tail muscle organ AAO:0000081|MA:0000699|BTO:0001905|EMAPA:37759 uberon owl:Class the BTO class may possibly refer to an invertebrate structure GO:2000146 biolink:NamedThing negative regulation of cell motility Any process that stops, prevents, or reduces the frequency, rate or extent of cell motility. tmpxe7fu0cj_hp_relaxed.owl negative regulation of cell movement|negative regulation of movement of a cell|negative regulation of cell locomotion mah 2010-10-01T09:41:26Z biological_process owl:Class GO:0040013 biolink:NamedThing negative regulation of locomotion Any process that stops, prevents, or reduces the frequency, rate or extent of locomotion of a cell or organism. tmpxe7fu0cj_hp_relaxed.owl down regulation of locomotion|inhibition of locomotion|downregulation of locomotion|down-regulation of locomotion biological_process owl:Class HP:0033468 biolink:NamedThing 10-minute APGAR score of 0 tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:45:21+00:00 peter owl:Class HP:0033467 biolink:NamedThing Low 10-minute APGAR score A normal APGAR score can be coded as 'not Low 10-minute APGAR score'. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:45:03+00:00 peter owl:Class GO:0051965 biolink:NamedThing positive regulation of synapse assembly Any process that activates, maintains or increases the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse. tmpxe7fu0cj_hp_relaxed.owl activation of synapse assembly|positive regulation of synapse biogenesis|stimulation of synapse assembly|up-regulation of synapse assembly|positive regulation of synaptogenesis|up regulation of synapse assembly|upregulation of synapse assembly biological_process owl:Class GO:0051963 biolink:NamedThing regulation of synapse assembly Any process that modulates the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse. tmpxe7fu0cj_hp_relaxed.owl regulation of synapse biogenesis|regulation of synaptogenesis biological_process owl:Class HP:0012865 biolink:NamedThing Abnormal sperm head morphology A structural abnormality of the sperm head. tmpxe7fu0cj_hp_relaxed.owl Sperm head anomaly UMLS:C4022702 hecht 2014-06-09T10:48:21Z owl:Class HP:0012864 biolink:NamedThing Abnormal sperm morphology A structural anomaly of sperm. tmpxe7fu0cj_hp_relaxed.owl Teratospermia|Teratozoospermia|Abnormal shape of sperm SNOMEDCT_US:236817003|MSH:D000072660|UMLS:C0403824 hecht 2014-06-09T10:07:03Z human_phenotype owl:Class HP:0008002 biolink:NamedThing Abnormality of macular pigmentation Abnormality of macular or foveal pigmentation. tmpxe7fu0cj_hp_relaxed.owl Macular pigmentary changes UMLS:C4024756|UMLS:C1837087 human_phenotype owl:Class UBERON:0001008 biolink:NamedThing renal system The renal system in an anatomical system that maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products.. tmpxe7fu0cj_hp_relaxed.owl renal/urinary system|systema urinarium|excretory system|renal or urinary system|systema urinaria|renal system|urinary system|urinary tract GAID:391|EHDAA:5901|XAO:0000143|BILA:0000015|VHOG:0000723|MIAA:0000027|EMAPA:17366|TAO:0000163|AAO:0010257|EV:0100095|MESH:D014551|NCIT:C12413|UMLS:C1508753|EFO:0000803|ZFA:0000163|MA:0000325|BTO:0003092|WBbt:0005736|MAT:0000027|FMA:7159|FBbt:00005056|TADS:0000162|galen:UrinaryTract|CALOHA:TS-1323|BTO:0001244|EHDAA2:0001601 In various sources such as Encyclopedia Britannica, the excretory and urinary systems are indeed the same system (see wikipedia talk page); we merge two BTO classes here uberon owl:Class An anatomical system which consists of organs and tissues which produce, store, and excrete urine.[AAO] Evolution of vertebrate renal anatomy appears quite conservative when compared, for example, to evolution of respiratory and cardiovascular systems in vertebrates. Major anatomical changes in vertebrates kidneys separate those of birds and mammals from kidneys of lower vertebrates. General increase in animal size from fish to mammals is reflected by an increase in total number of nephrons per kidney, rather than by constant change in tubular dimensions.[well established][VHOG] This definition is inclusive of the organs of the vertebrate renal system, as well as the Malpighian tubules of insects, and allows for future incorporation of structures such as the antennal glands of crustaceans|In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels GO:0010469 biolink:NamedThing regulation of signaling receptor activity Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity. tmpxe7fu0cj_hp_relaxed.owl regulation of receptor activity|regulation of signalling receptor activity biological_process owl:Class HP:0006691 biolink:NamedThing Pulmonic valve myxoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025002 human_phenotype owl:Class UBERON:0001803 biolink:NamedThing epithelium of lens A layer of epithelial cells that is part of the eye. tmpxe7fu0cj_hp_relaxed.owl epithelium lentis|epithelial tissue of lens|lens epithelial tissue|epithelial tissue of eye lens|eye lens epithelial tissue|lens epithelium|eye lens epithelium|epithelium of eye lens SCTID:362523006|TAO:0001326|CALOHA:TS-0543|ZFA:0001326|MA:0001301|FMA:58871|XAO:0004094|EMAPA:32871|Wikipedia:Lens_(anatomy)#Lens_Epithelium|BTO:0001873 this class is the superclass of the anterior epithelium and equatorial epithlium, although the term 'lens epithelium' may refer specifically to the former uberon owl:Class UBERON:0000484 biolink:NamedThing simple cuboidal epithelium Unilaminar epithelium that consists of a single layer of cuboidal cells. tmpxe7fu0cj_hp_relaxed.owl epithelium simplex cuboideum|simple cuboidal epithelia FMA:45566|XAO:0004009|EHDAA2:0003067|AEO:0000067|CARO:0000067|Wikipedia:Simple_cuboidal_epithelium|BILA:0000067|AAO:0010064|ZFA:0001497|NCIT:C33553|UMLS:C0836134|HAO:0000067|TAO:0001497 http://upload.wikimedia.org/wikipedia/commons/d/d0/Gray1133.png needs to be synchronized with CL - there is no distinct cuboidal cell in CL uberon owl:Class HP:0032782 biolink:NamedThing Focal impaired awareness autonomic seizure with lacrimation A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032755 biolink:NamedThing Focal impaired awareness autonomic seizure A focal autonomic seizure characterised by impaired awareness at some point within the seizure. tmpxe7fu0cj_hp_relaxed.owl Localised autonomic seizure with altered responsiveness|Localized autonomic seizure with altered responsiveness|Partial autonomic seizure with altered responsiveness|Focal autonomic seizure with altered responsiveness peter HP:0011155 owl:Class UBERON:0000125 biolink:NamedThing neural nucleus A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO). tmpxe7fu0cj_hp_relaxed.owl neuronal nucleus|nucleus of neuraxis|neuraxis nucleus|nucleus|nucleus of CNS|nervous system nucleus AEO:0000136|Wikipedia:Nucleus_(neuroanatomy)|NCIT:C13197|FMA:83686|NLX:28443 uberon owl:Class Anatomical structure consisting of a discrete aggregate of neuronal soma[GO][GO_REF:0000021]. Proposed CUMBO def from MM: A subcortical part of the nervous system consisting of a relatively compact group of cells that is distinguishable histologically that share a commonality of cytoarchitecture, chemoarchitecturel and connectivity. (comments: I put in 'subcortical' because I don't think we consider either the cerebellar cortex or cerebral cortex to be nuclei. Some people distinguish between a nucleus and a laminar structure (see Wikipedia definition). However, there are structures identified as nuclei that are laminar, e.g., lateral geniculate nucleus, although they are not laminated in all species. Also, I put in 'relatively compact' and 'distiguishable by histology' because we have groups of cells, e.g., cholinergic cell groups, doparminergic cell groups that are related on the 3 criteria but which we don't tend to consider nuclei because they don't occupy an easily defined territory. But all is open to debate. GO:1904318 biolink:NamedThing regulation of smooth muscle contraction involved in micturition Any process that modulates the frequency, rate or extent of smooth muscle contraction involved in micturition. tmpxe7fu0cj_hp_relaxed.owl regulation of urinary bladder smooth muscle contraction involved in micturition|regulation of smooth muscle contraction involved in urination sl 2015-06-10T18:46:11Z biological_process owl:Class GO:0044062 biolink:NamedThing regulation of excretion Any process that modulates the frequency, rate, or extent of excretion, the elimination by an organism of the waste products that arise as a result of metabolic activity. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009408 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 4th finger tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped ring finger bones|Absent/small ring finger bones UMLS:C4024384 doelkens 2009-01-13T02:37:29Z human_phenotype owl:Class HP:0009172 biolink:NamedThing Abnormal 4th finger phalanx morphology Abnormality of the phalanges of the 4th (ring) finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the phalanges of the ring finger|Abnormal bones of 4th finger UMLS:C4021516 doelkens 2009-01-05T04:18:24Z HP:0004191 human_phenotype owl:Class GO:0061155 biolink:NamedThing pulmonary artery endothelial tube morphogenesis The process in which the anatomical structures of a tube are generated and organized from the pulmonary artery endothelium. An pulmonary artery endothelium is an epithelium that lines the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl dph 2010-06-15T09:09:04Z biological_process owl:Class HP:0010570 biolink:NamedThing Low maternal serum alpha-fetoprotein An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age. tmpxe7fu0cj_hp_relaxed.owl Low maternal serum alpha-fetoprotein UMLS:C4023787 Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. peter 2009-10-20T07:01:24Z human_phenotype owl:Class HP:0030302 biolink:NamedThing Agenesis of the anterior commissure Absence of the anterior commissure. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851087 owl:Class HP:0030301 biolink:NamedThing Abnormality of the anterior commissure An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022525 The human brain commissures comprise the corpus callosum, the anterior commissure, the fornix, and the posterior commissure. owl:Class HP:0033007 biolink:NamedThing Architectural distortion of the lung Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0002088 biolink:NamedThing Abnormal lung morphology Any structural anomaly of the lung. tmpxe7fu0cj_hp_relaxed.owl Lung disease|Abnormality of lung structure|Unusal lung shape|Abnormally shaped lung|Abnormality of the lungs SNOMEDCT_US:19829001|UMLS:C4021760|UMLS:C0024115|MSH:D008171 owl:Class HP:0006386 biolink:NamedThing Hypoplastic distal radial epiphyses Underdevelopment of the distal epiphysis of the radius. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969286 human_phenotype owl:Class HP:0010597 biolink:NamedThing Abnormality of the distal radial epiphysis Any abnormality of the distal epiphysis of the radius. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023776 sandra1 2009-10-22T03:06:29Z human_phenotype owl:Class HP:0032467 biolink:NamedThing Past obstetric history Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies. tmpxe7fu0cj_hp_relaxed.owl Maternal medical history 2019-04-04 09:46:23+00:00 peter owl:Class HP:0032443 biolink:NamedThing Past medical history In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc. tmpxe7fu0cj_hp_relaxed.owl 2019-03-03 16:39:26+00:00 This subontology of the HPO is not intended to provide all needed terms to describe the past medical history, but rather to be combined with other ontologies such as MONDO in order to capture information that is often needed to properly assess phenotypic findings related to a presenting medical problem. peter owl:Class UBERON:0001466 biolink:NamedThing pedal digit A digit that is part of a pes (foot). tmpxe7fu0cj_hp_relaxed.owl digit of terminal segment of lower limb|hind digit|digiti pedis|hind_digit|hindlimb digit|digit of foot|digitus pedis|pes digit|pedal digit (phalangeal portion) plus soft tissue|toe|digitipedis|foot digit GAID:44|OpenCyc:Mx4rvVjCHZwpEbGdrcN5Y29ycA|AAO:0000888|EMAPA:32649|XAO:0003035|galen:Toe|MA:0000048|FMA:25046|UMLS:C0040357|NCIT:C33788|BTO:0002348 http://upload.wikimedia.org/wikipedia/commons/5/5e/Toes.jpg UBERON:0000027 uberon owl:Class HP:0032023 biolink:NamedThing Eosinophilic gallbladder infiltration Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination. tmpxe7fu0cj_hp_relaxed.owl Eosinophilic cholecystitis 2018-09-01 13:49:40+00:00 peter owl:Class HP:0012437 biolink:NamedThing Abnormal gallbladder morphology A structural anomaly of the gallbladder. tmpxe7fu0cj_hp_relaxed.owl Abnormal gallbladder structure|Abnormal shape of gallbladder UMLS:C4022904 peter 2013-11-23T01:13:40Z owl:Class HP:0030211 biolink:NamedThing Slow pupillary light response Reduced velocity and acceleration in the pupillary light response. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022576 owl:Class HP:0007695 biolink:NamedThing Abnormal pupillary light reflex An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1970591 human_phenotype owl:Class GO:1900426 biolink:NamedThing positive regulation of defense response to bacterium Any process that activates or increases the frequency, rate or extent of defense response to bacterium. tmpxe7fu0cj_hp_relaxed.owl positive regulation of defence response to bacterium|up-regulation of defense response to bacterium|activation of defense response to bacteria|activation of resistance response to pathogenic bacterium|up regulation of defense response to bacterium|up-regulation of antibacterial peptide activity|positive regulation of defense response to bacterium, incompatible interaction|activation of defence response to bacteria|up regulation of defence response to bacterium|up-regulation of defence response to bacteria|up regulation of antibacterial peptide activity|positive regulation of antibacterial peptide activity|up-regulation of defense response to bacteria|positive regulation of defence response to bacteria|upregulation of defence response to bacterium|upregulation of defense response to bacteria|activation of resistance response to pathogenic bacteria|upregulation of antibacterial peptide activity|positive regulation of defense response to bacteria|up regulation of defense response to bacteria|activation of defence response to bacterium|upregulation of defence response to bacteria|upregulation of defense response to bacterium|activation of defense response to bacterium|up regulation of defence response to bacteria|activation of antibacterial peptide activity|up-regulation of defence response to bacterium dhl 2012-04-24T10:13:13Z GO:1902479 biological_process owl:Class GO:1900424 biolink:NamedThing regulation of defense response to bacterium Any process that modulates the frequency, rate or extent of defense response to bacterium. tmpxe7fu0cj_hp_relaxed.owl regulation of resistance response to pathogenic bacterium|regulation of defense response to bacteria|regulation of resistance response to pathogenic bacteria|regulation of antibacterial peptide activity|regulation of defence response to bacterium, incompatible interaction|regulation of defence response to bacteria|regulation of defence response to bacterium|regulation of defense response to bacterium, incompatible interaction|regulation of defence response to pathogenic bacterium, incompatible interaction|regulation of defence response to pathogenic bacteria, incompatible interaction dhl 2012-04-24T10:12:43Z GO:1902477 biological_process owl:Class GO:0003014 biolink:NamedThing renal system process A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). tmpxe7fu0cj_hp_relaxed.owl excretory system process|kidney system process biological_process owl:Class CL:0000120 biolink:NamedThing granule cell tmpxe7fu0cj_hp_relaxed.owl BTO:0003393 cell owl:Class CL:0000117 biolink:NamedThing CNS neuron (sensu Vertebrata) tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0000322 biolink:NamedThing Short philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. tmpxe7fu0cj_hp_relaxed.owl Vertical hypoplasia of philtrum|Decreased length of philtrum|Decreased vertical dimension of philtrum|Decreased height of philtrum UMLS:C1861324 HP:0200090 human_phenotype owl:Class HP:0000288 biolink:NamedThing Abnormality of the philtrum An abnormality of the philtrum. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the infranasal depression|Abnormal philtrum|Abnormality of the paralabial region UMLS:C1857045 The paralabial region is the region surrounding the lips and includes the philtrum. HP:0011216 human_phenotype owl:Class GO:0046394 biolink:NamedThing carboxylic acid biosynthetic process The chemical reactions and pathways resulting in the formation of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups. tmpxe7fu0cj_hp_relaxed.owl carboxylic acid anabolism|carboxylic acid synthesis|carboxylic acid formation|carboxylic acid biosynthesis biological_process owl:Class GO:0005539 biolink:NamedThing glycosaminoglycan binding Binding to a glycan (polysaccharide) containing a substantial proportion of aminomonosaccharide residues. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class GO:0097367 biolink:NamedThing carbohydrate derivative binding Binding to a carbohydrate derivative. tmpxe7fu0cj_hp_relaxed.owl pr 2012-08-02T13:03:39Z molecular_function owl:Class HP:0001028 biolink:NamedThing Hemangioma A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). tmpxe7fu0cj_hp_relaxed.owl Hemangiomata|Strawberry mark SNOMEDCT_US:2099007|MSH:D006391|SNOMEDCT_US:253053003|SNOMEDCT_US:400210000|NCIT:C3085|UMLS:C0018916 HP:0007444 human_phenotype owl:Class GO:0003006 biolink:NamedThing developmental process involved in reproduction A developmental process in which a progressive change in the state of some part of an organism, germline or somatic, specifically contributes to its ability to form offspring. tmpxe7fu0cj_hp_relaxed.owl puberty|reproductive developmental process biological_process owl:Class GO:0022414 biolink:NamedThing reproductive process A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. tmpxe7fu0cj_hp_relaxed.owl single organism reproductive process jl 2012-09-19T15:56:06Z GO:0044702 biological_process owl:Class HP:0006263 biolink:NamedThing Abnormality of the epiphyses of the 2nd finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the index finger bone UMLS:C4025073 peter 2008-03-28T03:04:00Z human_phenotype owl:Class HP:0005920 biolink:NamedThing Abnormal epiphysis morphology of the phalanges of the hand Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021613 peter 2008-03-27T02:21:00Z HP:0009151 human_phenotype owl:Class UBERON:0016538 biolink:NamedThing temporal cortex Gray matter of the temporal region of the neocortex, located in the temporal lobe in gyrencephalic animals. tmpxe7fu0cj_hp_relaxed.owl temporal neocortex|gray matter of temporal lobe|temporal lobe cortex|cortex of temporal lobe MA:0000941|NLX:94939|DHBA:10235|BM:Tel-Cx-Te|DMBA:16044|FMA:242201 uberon owl:Class UBERON:0016529 biolink:NamedThing cortex of cerebral lobe Grey matter neocortex region of a lobe of the cerebral hemisphere. tmpxe7fu0cj_hp_relaxed.owl gray matter of lobe of cerebral hemisphere|neocortical part of cerebral hemisphere|cortex of cerebral hemisphere lobe|cortex of lobe of cerebral hemisphere FMA:242197 uberon owl:Class HP:0009513 biolink:NamedThing Absent epiphysis of the middle phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Absent epiphyses of middle phalanx of index finger|Missing end part of the middle long bone of the index finger UMLS:C4021459 doelkens 2009-01-16T01:12:17Z HP:0004136 human_phenotype owl:Class HP:0010257 biolink:NamedThing Absent epiphyses of the middle phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Absent end part of the middle hand bones UMLS:C4023943 doelkens 2009-07-06T04:24:15Z human_phenotype owl:Class GO:2000268 biolink:NamedThing positive regulation of blood coagulation, intrinsic pathway Any process that activates or increases the frequency, rate or extent of blood coagulation, intrinsic pathway. tmpxe7fu0cj_hp_relaxed.owl mah 2010-11-23T11:45:51Z biological_process owl:Class GO:1903429 biolink:NamedThing regulation of cell maturation tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:2000829 biolink:NamedThing negative regulation of parathyroid hormone secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:2000828 biolink:NamedThing regulation of parathyroid hormone secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:1901698 biolink:NamedThing response to nitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. tmpxe7fu0cj_hp_relaxed.owl response to nitrogen molecular entity pr 2012-12-13T15:06:08Z biological_process owl:Class GO:0042221 biolink:NamedThing response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. tmpxe7fu0cj_hp_relaxed.owl response to chemical stimulus|response to chemical substance Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class CHEBI:48360 biolink:NamedThing amphiprotic solvent Self-ionizing solvent possessing both characteristics of Bronsted acids and bases. tmpxe7fu0cj_hp_relaxed.owl amphiprotic solvent chebi_ontology owl:Class CHEBI:48359 biolink:NamedThing protophilic solvent Solvent that is capable of acting as a hydron (proton) acceptor. tmpxe7fu0cj_hp_relaxed.owl protophilic solvent|hydrogen bond acceptor solvent|HBA solvent chebi_ontology owl:Class HP:0009589 biolink:NamedThing Bilateral vestibular Schwannoma A bilateral vestibular Schwannoma (acoustic neurinoma). tmpxe7fu0cj_hp_relaxed.owl Bilateral acoustic neuromas UMLS:C1136042|MSH:D016518 peter 2009-01-28T10:39:14Z human_phenotype owl:Class HP:0009588 biolink:NamedThing Vestibular Schwannoma A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear. tmpxe7fu0cj_hp_relaxed.owl Acoustic Neuroma|Vestibular Schwann cell tumour|Vestibular neurilemmoma|Vestibular Schwann cell tumor|Vestibular neurinoma|Vestibular neurolemmoma SNOMEDCT_US:985004|MSH:D009464|SNOMEDCT_US:126949007|NCIT:C3269|UMLS:C0027859 peter 2009-01-28T10:37:32Z human_phenotype owl:Class CHEBI:145810 biolink:NamedThing insulin A peptide hormone which consists of two polypeptide chains, A- and B- chains which are linked together by disulfide bonds. The amino acid sequence of insulin varies across species and certain segments of the molecule are highly conserved. In most species, the A chain consists of 21 amino acids and the B chain consists of 30 amino acids. In mammals, insulin is synthesised in the pancreas within the beta cells whereas in certain species of fish, the insulin-producing tissue is uniquely located in separate structures called Brockmann bodies. tmpxe7fu0cj_hp_relaxed.owl PMID:25848166|PMID:12137720|PMID:19251032|PMID:5941964|PMID:6069707|Wikipedia:Insulin chebi_ontology owl:Class CHEBI:24533 biolink:NamedThing heterodetic cyclic peptide A heterodetic cyclic peptide is a peptide consisting only of amino-acid residues, but in which the linkages forming the ring are not solely peptide bonds; one or more is an isopeptide, disulfide, ester, or other bond. tmpxe7fu0cj_hp_relaxed.owl peptido ciclico heterodetico|peptide cyclique heterodetique|heterodetic cyclic peptide|heterodetic cyclic peptides chebi_ontology owl:Class UBERON:0007228 biolink:NamedThing vestibular nucleus A cranial nucleus for the vestibular nerve. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl vestibular VIII nucleus|vestibular nucleus of acoustic nerve|vestibular nucleus of eighth cranial nerve EV:0100254|CALOHA:TS-2078|FMA:54602|NCIT:C12821|MA:0001032|UMLS:C0042600|EMAPA:35923 See comments for 'vestibular nuclear complex. http://upload.wikimedia.org/wikipedia/commons/5/52/Gray691.png uberon owl:Class UBERON:0007635 biolink:NamedThing nucleus of medulla oblongata A neural nucleus that is part of a medulla oblongata. tmpxe7fu0cj_hp_relaxed.owl SCTID:304943004|FMA:258772 uberon owl:Class UBERON:0005451 biolink:NamedThing segment of manus A segment of autopod that is part of a manus. tmpxe7fu0cj_hp_relaxed.owl hand region|segment of hand|hand subdivision|regio manus|subdivision of hand FMA:24945 uberon owl:Class HP:0005145 biolink:NamedThing Coronary artery stenosis Abnormal narrowing of the coronary artery. tmpxe7fu0cj_hp_relaxed.owl Narrowing of coronary artery SNOMEDCT_US:233970002|MSH:D023921|UMLS:C0242231 human_phenotype owl:Class HP:0006704 biolink:NamedThing Abnormal coronary artery morphology Any structural abnormality of the coronary arteries. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0158623|SNOMEDCT_US:28574005|Fyler:3100 peter 2008-03-29T03:33:00Z human_phenotype owl:Class UBERON:0003354 biolink:NamedThing epithelium of rectum An epithelium that is part of a rectum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl rectum epithelial tissue|epithelial tissue of rectum|rectum epithelium|rectal epithelium CALOHA:TS-2066|MA:0003219|EMAPA:17898|EHDAA2:0001594|VHOG:0001037|FMA:17510 uberon owl:Class HP:0009632 biolink:NamedThing Curved proximal phalanx of the thumb A deviation from the normal straight shape of the proximal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Curved innermost thumb bone UMLS:C4024265 doelkens 2009-01-29T05:09:41Z human_phenotype owl:Class HP:0031452 biolink:NamedThing Lichenoid skin lesion Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 15:34:38+00:00 peter owl:Class GO:0060932 biolink:NamedThing His-Purkinje system cell differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cell of the His-Purkinje system. These cells form the fibers regulate cardiac muscle contraction in the ventricles. tmpxe7fu0cj_hp_relaxed.owl dph 2009-09-29T01:10:32Z biological_process owl:Class HP:0010746 biolink:NamedThing Hypoplasia of the phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Small toe bones UMLS:C4023715 doelkens 2010-04-22T04:33:06Z human_phenotype owl:Class HP:0010173 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Absent/small toe bones|Absent/underdeveloped toe bones UMLS:C4023987 doelkens 2009-05-29T01:39:26Z human_phenotype owl:Class HP:0025234 biolink:NamedThing Parasomnia An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep. tmpxe7fu0cj_hp_relaxed.owl 2016-12-14 11:50:48+00:00 HPO:probinson owl:Class HP:0002360 biolink:NamedThing Sleep disturbance An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. tmpxe7fu0cj_hp_relaxed.owl Sleep dysfunction|Trouble sleeping|Difficulty sleeping|Sleep disturbances UMLS:C0037317|SNOMEDCT_US:53888004 human_phenotype owl:Class HP:0100252 biolink:NamedThing Diaphyseal dysplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C0011989|MSH:D003966|SNOMEDCT_US:34643004|SNOMEDCT_US:318761000119105 doelkens 2010-07-14T05:01:38Z human_phenotype owl:Class HP:0002652 biolink:NamedThing Skeletal dysplasia A general term describing features characterized by abnormal development of bones and connective tissues. tmpxe7fu0cj_hp_relaxed.owl Abnormal skeletal development MSH:D010009|UMLS:C4280567|UMLS:C0029422|SNOMEDCT_US:105985007|SNOMEDCT_US:240190009 The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. HP:0005685 owl:Class GO:0048870 biolink:NamedThing cell motility Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. tmpxe7fu0cj_hp_relaxed.owl cell locomotion|cell movement|movement of a cell biological_process owl:Class GO:0006928 biolink:NamedThing movement of cell or subcellular component The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore. tmpxe7fu0cj_hp_relaxed.owl cellular component motion|cellular component movement|cell movement Note that in GO cellular components include whole cells (cell is_a cellular component). biological_process owl:Class HP:0025011 biolink:NamedThing Pyriform aperture stenosis Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose. tmpxe7fu0cj_hp_relaxed.owl 2016-08-07 22:32:49+00:00 Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of nasal airway obstruction that clinically mimics choanal atresia, but needs to be differentiated from the latter because of the widely divergent modes of management [PMID:21423901]. HPO:probinson owl:Class HP:0005105 biolink:NamedThing Abnormal nasal morphology tmpxe7fu0cj_hp_relaxed.owl Abnormal of shape of nose|Abnormal nose morphology|Abnormal of morphology of nose|Abnormal of nasal shape Fyler:4870|UMLS:C4025252 This is a category for overall abnormal morphology that may be replaced later with more exact descriptions. peter 2008-03-25T05:21:00Z owl:Class GO:1904362 biolink:NamedThing regulation of calcitonin secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0090276 biolink:NamedThing regulation of peptide hormone secretion Any process that modulates the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. tmpxe7fu0cj_hp_relaxed.owl tb 2010-02-05T02:56:39Z biological_process owl:Class UBERON:0035129 biolink:NamedThing pes cartilage element tmpxe7fu0cj_hp_relaxed.owl foot cartilage condensation EMAPA:32657 uberon owl:Class GO:0010613 biolink:NamedThing positive regulation of cardiac muscle hypertrophy Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0007625 biolink:NamedThing pigment epithelium of eye Epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules. tmpxe7fu0cj_hp_relaxed.owl eye pigment epithelium MESH:D010857|GAID:907 uberon owl:Class UBERON:0003398 biolink:NamedThing mesentery of jejunum A mesentery that is part of a jejunum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl jejunal mesentery|jejunum mesentery|mesojejunum FMA:14651|EMAPA:18670 uberon owl:Class UBERON:0003337 biolink:NamedThing serosa of jejunum A serous membrane that is part of a jejunum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl jejunum serosa|jejunum serous membrane|visceral peritoneum of jejunum|serous membrane of jejunum|jejunal serosa EMAPA:27115|FMA:14955 uberon owl:Class UBERON:0007266 biolink:NamedThing intervertebral disk of atlas An intervertebral disk that connects a vertebral bone 1 and connects a vertebral bone 2. tmpxe7fu0cj_hp_relaxed.owl first cervical intervertebral disk|intervertebral disk of first cervical vertebra|C1 disk|intervertebral disk, C1-C2|C1 intervertebral disk|intervertebral disc of first cervical vertebra|intervertebral disk of cervical vertebra 1|intervertebral disc of cervical vertebra 1 EMAPA:19416 uberon owl:Class HP:0031018 biolink:NamedThing Eccrine syringofibroadenoma Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA). tmpxe7fu0cj_hp_relaxed.owl Syringofibroadenoma|Eccrine syringofibroadenomatous hyperplasia|Acrosyringeal adenomatosis 2017-05-31 00:32:10+00:00 robinp owl:Class HP:0008069 biolink:NamedThing Neoplasm of the skin A tumor (abnormal growth of tissue) of the skin. tmpxe7fu0cj_hp_relaxed.owl Skin cancer|Tumor of the skin|Tumour of the skin|Skin cancer (non-melanoma)|Skin tumors|Dermatological tumours|Dermatological tumors|Neoplasia of the skin|Skin tumours SNOMEDCT_US:372130007|NCIT:C3262|UMLS:C0037286|SNOMEDCT_US:126488004|MSH:D012878|UMLS:C0007114 peter 2008-04-02T04:01:00Z human_phenotype owl:Class HP:3000014 biolink:NamedThing Abnormality of procerus muscle An abnormality of a procerus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073223 vasilevs 2015-02-26T03:58:45Z human_phenotype owl:Class HP:0000366 biolink:NamedThing Abnormality of the nose An abnormality of the nose. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the nose|Nasal malformation|Nasal deformity|Malformation of the nose|Nasal anomaly|Anomaly of the nose|Nasal abnormality|Deformity of the nose UMLS:C0240547|SNOMEDCT_US:128274005|UMLS:C0265736|UMLS:C2235909|SNOMEDCT_US:72089000 human_phenotype owl:Class HP:0011157 biolink:NamedThing Focal sensory seizure A focal sensory seizure is a type seizure beginning with a subjective sensation. tmpxe7fu0cj_hp_relaxed.owl Sensory aura|Focal sensory seizures|Partial sensory seizure SNOMEDCT_US:18618006|UMLS:C0236018|MSH:D004827 A focal sensory seizure involves a sensation being experienced at seizure onset, without objective clinical signs of a seizure evident to the observer. peter 2011-10-18T02:26:40Z owl:Class HP:0033348 biolink:NamedThing Epileptic aura An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure. tmpxe7fu0cj_hp_relaxed.owl 2020-11-30 21:50:04+00:00 peter owl:Class UBERON:0004347 biolink:NamedThing limb bud An outgrowth on the lateral trunk of the embryo that develops into a limb. The limb bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. tmpxe7fu0cj_hp_relaxed.owl gemmae membrorum|limb buds|limbbud NCIT:C34203|BTO:0001640|MESH:A16.254.462|UMLS:C0282505|EMAPA:35944|FMA:296780|GAID:1307|XAO:0003161|AAO:0010375 developmentally_induced_by Fgf10, capable of initiating limb forming interactions between endoderm and mesoderm uberon owl:Class Early outgrowth of presumptive limb.[AAO] UBERON:0010345 biolink:NamedThing 4th arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 4th arch mesenchyme. tmpxe7fu0cj_hp_relaxed.owl branchial arch 4 mesenchyme from head mesenchyme|pharyngeal arch 4 mesenchyme from head mesenchyme|mesenchyme derived from head mesoderm of mesenchyme of 4th arch|head mesenchyme derived arch 4 mesenchyme EMAPA:16771|EHDAA2:0000097 uberon owl:Class UBERON:0001351 biolink:NamedThing lacrimal sac The upper dilated end of the nasolacrimal duct that is lodged in a deep groove formed by the lacrimal bone and frontal process of the maxilla; it connects the lacrimal canaliculi, which drain tears from the eye's surface, and the nasolacrimal duct, which conveys this fluid into the nasal cavity; like the nasolacrimal duct, the sac is lined by stratified columnar epithelium with mucus-secreting goblet cells, and is surrounded by connective tissue. tmpxe7fu0cj_hp_relaxed.owl saccus lacrimalis|lacrymal sac|lachrymal sac MA:0001298|FMA:20289|UMLS:C0229289|NCIT:C32909 http://upload.wikimedia.org/wikipedia/commons/c/cf/Gray896.png uberon owl:Class HP:0100380 biolink:NamedThing Aplasia of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Absent outermost bone of the pinky toe|Absent outermost bone of the pinkie toe|Absent outermost bone of the little toe UMLS:C4022112 human_phenotype owl:Class HP:0100364 biolink:NamedThing Aplasia of the phalanges of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Absent pinky toe bones|Absent pinkie toe bones|Absent little toe bones UMLS:C4022123 human_phenotype owl:Class UBERON:0006304 biolink:NamedThing future trigeminal ganglion tmpxe7fu0cj_hp_relaxed.owl trigeminal preganglion|trigeminal V preganglion RETIRED_EHDAA2:0002089|EMAPA:16663|EHDAA:924 See: https://github.com/obophenotype/mouse-anatomy-ontology/issues/13 and https://github.com/obophenotype/uberon/issues/693 -- consider merging into trigeminal ganglion, as this complicates the model uberon owl:Class UBERON:0003869 biolink:NamedThing presumptive ganglion A presumptive structure that has the potential to develop into a ganglion. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0009239 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 5th finger tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped outermost bone of pinky finger|Absent/small outermost bone of little finger|Absent/small outermost bone of pinkie finger|Absent/small outermost bone of pinky finger UMLS:C4024507 doelkens 2009-01-05T07:25:50Z human_phenotype owl:Class HP:0004225 biolink:NamedThing Abnormality of the distal phalanx of the 5th finger Abnormality of the distal phalanx of the 5th (little) finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the terminal phalanx of the little finger|Abnormality of the distal phalanx of the little finger|Abnormality of the outermost pinkie finger bone|Abnormality of the outermost little finger bone|Abnormality of the outermost pinky finger bone UMLS:C4021673 human_phenotype owl:Class UBERON:0003252 biolink:NamedThing thoracic rib cage Subdivision of skeletal system that consists of all ribs in an organism connected to the sternum and the vertebrae. Some vertebrates have abdominal ribs (gastrialia), not connected to the vertebrate - these are not considered part of the rib case. tmpxe7fu0cj_hp_relaxed.owl rib cage|cavea thoracis|thoracic cage FMA:7480|galen:RibCage http://upload.wikimedia.org/wikipedia/commons/8/88/Gray112.png uberon owl:Class Anatomical cluster that consists of more than one rib in an individual.[TAO] GO:2000509 biolink:NamedThing negative regulation of dendritic cell chemotaxis Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell chemotaxis. tmpxe7fu0cj_hp_relaxed.owl ebc 2011-03-22T10:21:45Z biological_process owl:Class GO:0002689 biolink:NamedThing negative regulation of leukocyte chemotaxis Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte chemotaxis. tmpxe7fu0cj_hp_relaxed.owl down regulation of leukocyte chemotaxis|down-regulation of leukocyte chemotaxis|negative regulation of immune cell chemotaxis|downregulation of leukocyte chemotaxis|inhibition of leukocyte chemotaxis|negative regulation of leucocyte chemotaxis biological_process owl:Class GO:0001961 biolink:NamedThing positive regulation of cytokine-mediated signaling pathway Any process that activates or increases the frequency, rate or extent of a cytokine mediated signaling pathway. tmpxe7fu0cj_hp_relaxed.owl positive regulation of cytokine and chemokine mediated signaling pathway|up regulation of cytokine mediated signaling pathway|up-regulation of cytokine mediated signaling pathway|stimulation of cytokine mediated signaling pathway|positive regulation of cytokine mediated signalling pathway|positive regulation of cytokine mediated signaling pathway|upregulation of cytokine mediated signaling pathway|activation of cytokine mediated signaling pathway biological_process owl:Class HP:0003730 biolink:NamedThing EMG: myotonic runs Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG). tmpxe7fu0cj_hp_relaxed.owl EMG: spontaneous, repetitive electrical activity UMLS:C4020837|UMLS:C4025576 This is a characteristic abnormality seen in the myotonias and periodic paralyses. owl:Class HP:0003457 biolink:NamedThing EMG abnormality Abnormal results of investigations using electromyography (EMG). tmpxe7fu0cj_hp_relaxed.owl Abnormal electromyography finding|Abnormal EMG|Electromyogram abnormal|EMG abnormalities UMLS:C0476403|SNOMEDCT_US:274523007 HP:0003751|HP:0003753|HP:0002177|HP:0100286 owl:Class UBERON:0006858 biolink:NamedThing adrenal/interrenal gland This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells[GO]. tmpxe7fu0cj_hp_relaxed.owl adrenal - interrenal gland|suprarenal gland - interrenal gland|adrenal gland - interrenal gland|adrenal gland/interrenal tissue VHOG:0001141 keep this grouping class so long as it is required for GO uberon owl:Class All craniates have groups of cells homologous to the mammalian adrenocortical and chromaffin tissues, but they are scattered in and near the kidneys in fishes. (...) The cortical and chromaffin tissues come together to form adrenal glands in tetrapods.[well established][VHOG] CHEBI:15611 biolink:NamedThing sarcosine A N-alkylglycine that is the N-methyl derivative of glycine. It is an intermediate in the metabolic pathway of glycine. tmpxe7fu0cj_hp_relaxed.owl N-methylaminoacetic acid|L-sarcosine|SARCOSINE|sarcosinic acid|sarcosine|(methylamino)acetic acid|(methylamino)ethanoic acid|methylaminoacetic acid|MeGly|N-Methylglycine|Sarcosine|Sar 0 C3H7NO2 InChI=1S/C3H7NO2/c1-4-2-3(5)6/h4H,2H2,1H3,(H,5,6) FSYKKLYZXJSNPZ-UHFFFAOYSA-N 89.09322 89.04768 CNCC(O)=O Gmelin:2018|PDBeChem:SAR|PMID:11850512|PMID:11272730|CAS:107-97-1|MetaCyc:SARCOSINE|PMID:15331688|PMID:19577367|PMID:16154544|Reaxys:1699442|KEGG:C00213|UM-BBD_compID:c0135|HMDB:HMDB0000271|PMID:19944746|PMID:17095900|Beilstein:1699442|PMID:15023571|PMID:19619564|PMID:19433577|PMID:17190852|PMID:17901997|Wikipedia:Sarcosine CHEBI:45442|CHEBI:12609|CHEBI:15065|CHEBI:10876|CHEBI:21765|CHEBI:45531|CHEBI:45614|CHEBI:9029|CHEBI:45381 chebi_ontology owl:Class CHEBI:66933 biolink:NamedThing N-alkylglycine Any glycine derivative in which glycine is substituted at position 2 by an alkyl group. tmpxe7fu0cj_hp_relaxed.owl N-alkylglycines 0 C2H4NO2R 74.059 74.02420 OC(=O)CN[*] MetaCyc:N-Alkylglycine|PMID:9989229 chebi_ontology owl:Class MAXO:0000595 biolink:NamedThing radiograph imaging procedure A procedure producing an image on a radiosensitive surface by x-ray radiation that has penetrated and passed through a structure in order to diagnose or treat a patient. tmpxe7fu0cj_hp_relaxed.owl radiography imaging procedure|radiography|X-ray imaging procedure|radiographic imaging procedure|radiogram imaging procedure|radiographic procedure 2020-04-07 15:49:43+00:00 NCIT:C60727|NCIT:C38101 owl:Class MAXO:0000005 biolink:NamedThing clinical imaging procedure Any technology or method that aids in the visualization of any biological process, cell, tissue or organ for use in screening, diagnosis, surgical procedures or therapy. tmpxe7fu0cj_hp_relaxed.owl medical imaging|imaging procedure|imaging technique|therapeutic imaging technique|therapeutic imaging procedure 2018-11-16 20:10:50+00:00 NCIT:C17369 owl:Class HP:0009692 biolink:NamedThing Ivory epiphysis of the thumb Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the thumb|Ivory epiphyses of the thumb UMLS:C4021403 doelkens 2009-01-30T09:20:16Z human_phenotype owl:Class HP:0009599 biolink:NamedThing Abnormality of thumb epiphysis Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the epiphyses of the thumb|Abnormality of thumb epiphyses|Abnormality of end part of thumb long bone UMLS:C4021429 In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). doelkens 2009-01-29T11:46:15Z HP:0004074 human_phenotype owl:Class UBERON:0004848 biolink:NamedThing respiratory system arterial endothelium An endothelium of artery that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl endothelium of artery of apparatus respiratorius|artery endothelium of apparatus respiratorius|respiratory system endothelium of artery|artery endothelium of respiratory system|arterial endothelium of apparatus respiratorius|respiratory system artery endothelium|apparatus respiratorius arterial endothelium|arterial endothelium of respiratory system|apparatus respiratorius artery endothelium|apparatus respiratorius endothelium of artery|endothelium of artery of respiratory system EMAPA:37566|MA:0001801 uberon owl:Class UBERON:0004702 biolink:NamedThing respiratory system blood vessel endothelium A blood vessel endothelium that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:35732|MA:0001805 uberon owl:Class HP:0033702 biolink:NamedThing Subpleural curvilinear line This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present). tmpxe7fu0cj_hp_relaxed.owl 2021-03-12 12:28:43+00:00 Though described in the context of asbestosis, subpleural curvilinear line is not specific for asbestosis. See Figure 68 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0031630 biolink:NamedThing Abnormal subpleural morphology Any structural anomaly located between the pleura and the chest wall. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 00:44:36+00:00 peter owl:Class HP:0020043 biolink:NamedThing Vertical incomitant strabismus A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards. tmpxe7fu0cj_hp_relaxed.owl 2017-12-20 17:14:25+00:00 robinp owl:Class HP:0025068 biolink:NamedThing Incomitant strabismus Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort. tmpxe7fu0cj_hp_relaxed.owl 2016-09-26 10:25:28+00:00 HPO:probinson owl:Class HP:0006688 biolink:NamedThing Paroxysmal tachycardia tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:12026006|MSH:D013614|UMLS:C0039236 human_phenotype owl:Class HP:0001649 biolink:NamedThing Tachycardia A rapid heartrate that exceeds the range of the normal resting heartrate for age. tmpxe7fu0cj_hp_relaxed.owl Fast heart rate|Rapid heart beat|Racing heart|Increased heart rate|Elevated heart rate|Heart racing UMLS:C4020868|SNOMEDCT_US:3424008|SNOMEDCT_US:86651002|UMLS:C0039231|MSH:D013610 HP:0001720|HP:0001673 human_phenotype owl:Class HP:0006596 biolink:NamedThing Restricted chest movement tmpxe7fu0cj_hp_relaxed.owl Restricted chest movement UMLS:C4025015 owl:Class HP:0001547 biolink:NamedThing Abnormal rib cage morphology A morphological anomaly of the rib cage. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the rib cage UMLS:C4025763 owl:Class UBERON:0004831 biolink:NamedThing esophagus skeletal muscle A portion of skeletal muscle tissue that is part of a esophagus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl esophagus skeletal muscle tissue|skeletal muscle of esophagus MA:0001572|EMAPA:36523 Most muscle tissue lining the digestive tract is smooth, but part of the externa of the esophagus is skeletal uberon owl:Class HP:0006851 biolink:NamedThing Symmetric spinal nerve root neurofibromas Multiple neurofibromas of the spinal nerve roots with a symmetric distribution. tmpxe7fu0cj_hp_relaxed.owl Spinal nerve root neurofibromas, symmetric, multiple UMLS:C1834236 human_phenotype owl:Class CHEBI:75600 biolink:NamedThing EC 6.3.* (C-N bond-forming ligase) inhibitor A ligase inhibitor that interferes with the action of a C-N bond-forming ligase (EC 6.3.*.*). tmpxe7fu0cj_hp_relaxed.owl C-N bond-forming ligase inhibitors|EC 6.3.*.* inhibitors|C--N bond-forming ligase inhibitor|EC 6.3.*.* inhibitor|C-N bond-forming ligase (EC 6.3.*) inhibitors|EC 6.3.* inhibitor|C-N bond-forming ligase (EC 6.3.*) inhibitor|C-N bond-forming ligase inhibitor|EC 6.3.* inhibitors|EC 6.3.* (C-N bond-forming ligase) inhibitorS|C--N bond-forming ligase inhibitors chebi_ontology owl:Class UBERON:0018260 biolink:NamedThing layer of muscle tissue Any organ component layer that consists of muscle tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0225358|NCIT:C75444|FMA:45634 uberon owl:Class NCITA class may refer to smooth muscle only CHEBI:60065 biolink:NamedThing alpha-N-acetylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-N-acylsphingosine(1-) A carbohydrate acid derivative anion that is the conjugate base of alpha-N-acetylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosylceramide arising from deprotonation of the neuraminosyl carboxy group; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl ganglioside GM3 (d18:1(4E))|alpha-N-acetylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosylceramide -1 C42H72N2O21R 941.02190 940.46276 CCCCCCCCCCCCC\C=C\[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[C@@H]2O[C@H](CO)[C@H](O)[C@H](O[C@@]3(C[C@H](O)[C@@H](NC(C)=O)[C@@H](O3)[C@H](O)[C@H](O)CO)C([O-])=O)[C@H]2O)[C@H](O)[C@H]1O)NC([*])=O chebi_ontology owl:Class CHEBI:35757 biolink:NamedThing monocarboxylic acid anion A carboxylic acid anion formed when the carboxy group of a monocarboxylic acid is deprotonated. tmpxe7fu0cj_hp_relaxed.owl a monocarboxylate|Monocarboxylate|Carboxylate|monocarboxylates|monocarboxylic acid anions -1 CO2R 44.01000 43.98983 [O-]C([*])=O KEGG:C00060 CHEBI:25382|CHEBI:13657|CHEBI:3407 chebi_ontology owl:Class UBERON:0004463 biolink:NamedThing musculature of hindlimb stylopod Any collection of muscles that is part of a hindlimb stylopod (upper leg / thigh)[Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl thigh musculature|set of muscles of thigh|muscle group of thigh|musculature of thigh FMA:50208 uberon owl:Class UBERON:0001015 biolink:NamedThing musculature A subdivision of the muscular system corresponding to a subdisivision of an organism. tmpxe7fu0cj_hp_relaxed.owl muscle group|muscle system|muscles|set of muscles|muscles set|musculi|musculature system|set of skeletal muscles|musculature AAO:0011066|UMLS:C0026845|FMA:32558|EFO:0001949|ZFA:0000548|NCIT:C13056|EMAPA:35577|Wikipedia:Muscular_system|BTO:0000887|MA:0000165|TAO:0000548|OpenCyc:Mx4rvVjmr5wpEbGdrcN5Y29ycA|VSAO:0005038|EMAPA:32715|WBbt:0005737 http://upload.wikimedia.org/wikipedia/commons/e/e5/Muscles_anterior_labeled.png uberon owl:Class In FMA this is classified as a set of organs. ZFA musculature system has subtypes, so it is classified here. WBbt muscular system has subtypes so it goes here. Note that we use the MA term set of skeletal muscles here as it seems most appropriate (*not* MA:musculature). AAO is generally confused here. CL:0017504 biolink:NamedThing polychromatophilic cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2009-12-28T04:25:23Z cell owl:Class GO:0005737 biolink:NamedThing cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Cytoplasm cellular_component owl:Class UBERON:0002065 biolink:NamedThing posterior cardinal vein One of two paired cardinal veins that return blood from the body of the embryo[Kardong]. tmpxe7fu0cj_hp_relaxed.owl axial vein|inferior cardinal vein|caudal cardinal veins|postcardinal vein|PCV EHDAA2:0001486|TAO:0000477|ZFA:0000477|FMA:70314|NCIT:C34257|AAO:0010511|EMAPA:16357|BTO:0004386|UMLS:C0231087|EHDAA:1316|VHOG:0000111|XAO:0000241 uberon owl:Class Either of two veins which receive blood as an alternate route from the kidneys.[AAO]|Continuation of the caudal vein cranial to the anal pore. The cardinal vein splits into a pair of vessels in the cranial trunk, just caudal to the radix of the aorta. The posterior cardinals each empty into the common cardinal vein. [TAO] relationship loss: part_of cardinal system (TAO:0000096)[TAO]|relationship loss: part_of axial vasculature (TAO:0001073)[TAO] In primitive vertebrates, the basic early embryonic pattern is retained, and blood from anterior and posterior systemic tissues is returned in anterior and posterior cardinal veins, both pairs of veins uniting in common cardinal veins near the heart. In derived vertebrates, the cardinals appear but usually persist only in the embryo, being functionally replaced by alternative adult vessels, the precava and postcava (anterior and posterior venae cavae).[well established][VHOG] join with the corresponding right and left cardinal veins to form the left common cardinal veins, which empty in the sinus venosus. Most of the posterior cardinal veins regress, what remains of them forms the renal segment of the inferior vena cava and the common iliac veins. Later in the development stages, the posterior cardinal veins are replaced by the subcardinal and supracardinal veins. The subcardinal veins form part of the inferior vena cava, renal veins and gonadal veins. The supracardinal veins form part of the inferior vena cava, the intercostal veins, hemiazygos vein and azygos vein UBERON:0004344 biolink:NamedThing cardinal vein Any of the four veins in the developing vertebrate embryo which run along each side of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl cardinal sinus|Cuvierian vein|cardinal vein system NCIT:C34116|EHDAA:1310|VHOG:0001197|BTO:0004385|UMLS:C0231085|XAO:0000052|EMAPA:16354|AAO:0011022|EHDAA2:0000213 current we conflate the cardinal vein and cardinal vein system uberon owl:Class In primitive vertebrates, the basic early embryonic pattern is retained, and blood from anterior and posterior systemic tissues is returned in anterior and posterior cardinal veins, both pairs of veins uniting in common cardinal veins near the heart. In derived vertebrates, the cardinals appear but usually persist only in the embryo, being functionally replaced by alternative adult vessels, the precava and postcava (anterior and posterior venae cavae).[well established][VHOG] HP:0025492 biolink:NamedThing Microcoria A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 19:32:33+00:00 HPO:probinson owl:Class HP:0007700 biolink:NamedThing Ocular anterior segment dysgenesis Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. tmpxe7fu0cj_hp_relaxed.owl Anterior segment ocular dysgenesis|Anterior chamber cleavage defect|Anterior chamber mesodermal anomalies|Anterior segment mesencyhmal dysgenesis|Anterior chamber cleavage disorder|Anterior segment developmental abnormality|Anterior chamber malformation|Anterior segment dysgenesis SNOMEDCT_US:65075004|UMLS:C0266525 In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures. HP:0007696|HP:0008040|HP:0007699 human_phenotype owl:Class GO:1904304 biolink:NamedThing regulation of gastro-intestinal system smooth muscle contraction Any process that modulates the frequency, rate or extent of gastro-intestinal system smooth muscle contraction. tmpxe7fu0cj_hp_relaxed.owl sl 2015-06-09T23:18:42Z biological_process owl:Class GO:0006940 biolink:NamedThing regulation of smooth muscle contraction Any process that modulates the frequency, rate or extent of smooth muscle contraction. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1901623 biolink:NamedThing regulation of lymphocyte chemotaxis Any process that modulates the frequency, rate or extent of lymphocyte chemotaxis. tmpxe7fu0cj_hp_relaxed.owl tb 2012-11-13T23:03:23Z biological_process owl:Class GO:0002688 biolink:NamedThing regulation of leukocyte chemotaxis Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. tmpxe7fu0cj_hp_relaxed.owl regulation of immune cell chemotaxis|regulation of leucocyte chemotaxis biological_process owl:Class HP:0040258 biolink:NamedThing Hypoplastic nasopharyngeal adenoids Underdevelopment of the nasopharyngeal adenoids. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped nasopharyngeal adenoids UMLS:C4280691 owl:Class HP:0040260 biolink:NamedThing Decreased size of nasopharyngeal adenoids An abnormal decrease in the size of nasopharyngeal adenoids. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280689 owl:Class HP:0012339 biolink:NamedThing Increased resting energy expenditure An increase in the number of calories used per unit time. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022948 peter 2013-09-13T09:25:29Z human_phenotype owl:Class HP:0012338 biolink:NamedThing Abnormal energy expenditure Any anomaly in the utilization of energy (calories). tmpxe7fu0cj_hp_relaxed.owl Abnormal energy expenditure UMLS:C4022949 peter 2013-09-13T09:24:54Z human_phenotype owl:Class HP:0410365 biolink:NamedThing Increased disialylated core 1 O-glycan level An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins. tmpxe7fu0cj_hp_relaxed.owl Increased disialyl T-antigen concentration owl:Class HP:0012362 biolink:NamedThing Abnormal sialylation of O-linked protein glycosylation An anomaly of the addition of sialic acids to O-linked glycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022929 peter 2013-09-15T10:36:12Z human_phenotype owl:Class GO:0045721 biolink:NamedThing negative regulation of gluconeogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of gluconeogenesis. tmpxe7fu0cj_hp_relaxed.owl down regulation of gluconeogenesis|inhibition of gluconeogenesis|downregulation of gluconeogenesis|down-regulation of gluconeogenesis biological_process owl:Class GO:0062014 biolink:NamedThing negative regulation of small molecule metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of a small molecule metabolic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of small molecule metabolism dph 2018-03-19T14:27:23Z biological_process owl:Class HP:0030720 biolink:NamedThing Subchorionic septal cyst Cyst on the surface of the placenta consisting of amnion and chorion. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280801 owl:Class HP:0100767 biolink:NamedThing Abnormal placenta morphology An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. tmpxe7fu0cj_hp_relaxed.owl Placental issue|Abnormality of the placenta SNOMEDCT_US:169957005|UMLS:C1306893|SNOMEDCT_US:33552005 The placenta is a fetomaternal organ. The fetal portion of the placenta is the villous chorion and the maternal portion is the decidua basalis. The two portions are connected by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell. doelkens 2011-06-07T11:03:03Z owl:Class UBERON:0004415 biolink:NamedThing proximal epiphysis of metatarsal bone A proximal epiphysis that is part of a metatarsal bone [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of metatarsal bone|basis ossis metatarsi|proximal end of metatarsal bone|upper end of metatarsal bone FMA:33817 uberon owl:Class UBERON:0004389 biolink:NamedThing epiphysis of metatarsal bone An epiphysis that is part of a metatarsal bone [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl metatarsal epiphysis|epiphysis of metatarsal|metatarsal bone epiphysis FMA:33814 uberon owl:Class HP:0010058 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the hallux tmpxe7fu0cj_hp_relaxed.owl Absent/small big toe bone|Absent/underdeveloped big toe bone UMLS:C4024079 doelkens 2009-05-29T12:10:46Z human_phenotype owl:Class UBERON:0002375 biolink:NamedThing cricoid cartilage A cartilaginous ring that provides support for the arytenoid cartilages and forms the caudal part of the larynx. tmpxe7fu0cj_hp_relaxed.owl cartilago cricoidea|innominate cartilage|cricoidea|krykoid cartilage|cricoid|cartilago cricotrachealis|cartilaginis cricoideae GAID:110|VHOG:0001308|EMAPA:18696|FMA:9615|AAO:0000675|EHDAA:9393|EHDAA2:0000326|NCIT:C32400|MESH:A02.165.507.211|UMLS:C0010323|MA:0001762 http://upload.wikimedia.org/wikipedia/commons/5/54/Gray1194.png uberon owl:Class Cartilaginous ring that provides support for the arytenoid cartilages. Its ventral part is bent posteriorly to form a V.[AAO]|The ringlike cartilage forming the caudal part of the larynx. [TFD][VHOG] (In anura) a dorsal pair of arytenoid cartilages (...), which support vocal cords, and a ventral pair (often fused) of cricoid cartilage (...). These cartilages are regarded as derivatives of posterior visceral arches of ancestors. Together they constitute the larynx, a structure characteristic of tetrapods. (...) (In mammals) Paired arytenoid cartilages help support and control the vocal cords. The cricoid cartilage is single. Two additional cartilages are present that are lacking in other vertebrates: a large ventral thyroid cartilage (...) and a cartilage in the epiglottis.[well established][VHOG] UBERON:0001739 biolink:NamedThing laryngeal cartilage The cartilaginous structures that support the larynx. tmpxe7fu0cj_hp_relaxed.owl cartilage of larynx|cartilagines laryngeales|larynx cartilage VHOG:0001550|EHDAA:8157|SCTID:263482005|UMLS:C0023050|FMA:55108|NCIT:C12281|GAID:107|MA:0001758|BTO:0003660|EMAPA:18697|MESH:A02.165.507 uberon owl:Class (In anura) a dorsal pair of arytenoid cartilages (...), which support vocal cords, and a ventral pair (often fused) of cricoid cartilage (...). These cartilages are regarded as derivatives of posterior visceral arches of ancestors. Together they constitute the larynx, a structure characteristic of tetrapods. (...) (In mammals) Paired arytenoid cartilages help support and control the vocal cords. The cricoid cartilage is single. Two additional cartilages are present that are lacking in other vertebrates: a large ventral thyroid cartilage (...) and a cartilage in the epiglottis.[well established][VHOG] UBERON:0015156 biolink:NamedThing terminal branch of ophthalmic artery The two terminal branches of the ophthalmic artery in humans are the dorsal nasal artery and the supratrochlear artery. tmpxe7fu0cj_hp_relaxed.owl FMA:51956 uberon owl:Class HP:0031576 biolink:NamedThing Tessier number 4 facial cleft The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly. tmpxe7fu0cj_hp_relaxed.owl 2017-10-14 12:40:39+00:00 peter owl:Class HP:0031574 biolink:NamedThing Orbital cleft A facial cleft characterized by involvement of the orbit. tmpxe7fu0cj_hp_relaxed.owl 2017-10-14 12:37:52+00:00 peter owl:Class UBERON:0004406 biolink:NamedThing distal epiphysis of femur A distal epiphysis that is part of a femur [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl distal head of femur|distal femoral epiphysis AAO:0000893|FMA:32844 uberon owl:Class Head of the femur that articulates with the tibia and fibula.[AAO] UBERON:0004379 biolink:NamedThing distal epiphysis An epiphysis that is on the distal side of the bone. tmpxe7fu0cj_hp_relaxed.owl distal end of long bone FMA:32822 uberon owl:Class GO:0043043 biolink:NamedThing peptide biosynthetic process The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. tmpxe7fu0cj_hp_relaxed.owl peptide anabolism|peptide biosynthesis|peptide synthesis|peptide formation biological_process owl:Class GO:0043604 biolink:NamedThing amide biosynthetic process The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0031951 biolink:NamedThing Nocturnal seizures Seizures that occur while the affected individual is sleeping. tmpxe7fu0cj_hp_relaxed.owl Sleep seizures 2018-07-07 12:33:57+00:00 peter owl:Class HP:0001250 biolink:NamedThing Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. tmpxe7fu0cj_hp_relaxed.owl Epileptic seizure|Epilepsy|Seizures SNOMEDCT_US:246545002|UMLS:C0014544|SNOMEDCT_US:84757009|SNOMEDCT_US:128613002|MSH:D012640|UMLS:C0036572|SNOMEDCT_US:313307000|SNOMEDCT_US:91175000|MSH:D004827 A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. HP:0002431|HP:0002434|HP:0002306|HP:0002182|HP:0002437|HP:0002479|HP:0001303|HP:0001275|HP:0002466|HP:0002430|HP:0002432|HP:0002279|HP:0002391|HP:0010520|HP:0002348|HP:0002794|HP:0006997|HP:0002125|HP:0002417 human_phenotype owl:Class NCBITaxon:2759 biolink:NamedThing Eukaryota tmpxe7fu0cj_hp_relaxed.owl eukaryotes|Eukarya|Eukaryotae|Eucaryotae|euk-|eucaryotes|Eucarya PMID:30257078|GC_ID:1|PMID:23020233 ncbi_taxonomy owl:Class CL:0000351 biolink:NamedThing trophoblast cell A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface. tmpxe7fu0cj_hp_relaxed.owl trophoblastic cell FMA:83028 cell owl:Class CL:0000349 biolink:NamedThing extraembryonic cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class UBERON:0010303 biolink:NamedThing extraembryonic epithelium An epithelium that is part of a extraembryonic structure. tmpxe7fu0cj_hp_relaxed.owl extra-embryonic epithelium uberon owl:Class UBERON:0009773 biolink:NamedThing renal tubule A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. tmpxe7fu0cj_hp_relaxed.owl renal tubule (generic)|tubule of excretory system this class groups vertebrate nephron tubules with analagous structures such as insect Malpighian tubules uberon owl:Class UBERON:0006555 biolink:NamedThing excretory tube A tube that is part of a excretory system. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0014744 biolink:NamedThing positive regulation of muscle adaptation Any process that activates or increases the frequency, rate or extent of muscle adaptation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of muscle plasticity biological_process owl:Class HP:0008783 biolink:NamedThing Wide proximal femoral metaphysis Increased width of the proximal part of the shaft (metaphysis) of the femur. tmpxe7fu0cj_hp_relaxed.owl Wide metaphysis of innermost thighbone UMLS:C4024623 HP:0008790 human_phenotype owl:Class HP:0006431 biolink:NamedThing Proximal femoral metaphyseal abnormality An anomaly of the metaphysis of the proximal femur (close to the hip). tmpxe7fu0cj_hp_relaxed.owl Abnormal wide portion of innermost thighbone UMLS:C4025047 human_phenotype owl:Class UBERON:0014876 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit tmpxe7fu0cj_hp_relaxed.owl head of distal phalanx of digit of pes|head of distal phalanx of digit of foot|head of distal phalanx of toe|distal end of distal phalanx of toe uberon owl:Class UBERON:0013122 biolink:NamedThing distal epiphysis of phalanx of pes tmpxe7fu0cj_hp_relaxed.owl ungual tuberosity of distal phalanx of toe|caput phalangis pedis|distal end of phalanx of foot|caput phalangis (pedis)|head of phalanx of foot|distal epiphysis of phalanx of toe FMA:32890 uberon owl:Class UBERON:0007590 biolink:NamedThing cuboidal oviduct epithelium A cuboidal epithelium that is part of a oviduct. tmpxe7fu0cj_hp_relaxed.owl MA:0001720 uberon owl:Class UBERON:0010077 biolink:NamedThing cuboidal epithelium An epithelium consisting of cuboidal epithelial cells. tmpxe7fu0cj_hp_relaxed.owl NCIT:C32415|UMLS:C0682577|Wikipedia:Cuboidal_epithelium TODO - coordinate with CL, add cuboidal cell uberon owl:Class in NCIT this is glandular HP:0007260 biolink:NamedThing Type II lissencephaly A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers. tmpxe7fu0cj_hp_relaxed.owl Type 2 lissencephaly|Cobblestone lissencephaly|Lissencephaly type II SNOMEDCT_US:253149002|MSH:D054222|UMLS:C0431376 HP:0006853 human_phenotype owl:Class HP:0001339 biolink:NamedThing Lissencephaly A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. tmpxe7fu0cj_hp_relaxed.owl Fewer or absent grooves in brain UMLS:C0266463|MSH:D054082|UMLS:C1879312|SNOMEDCT_US:204036008 Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci. HP:0002537 human_phenotype owl:Class CHEBI:37808 biolink:NamedThing butane A straight chain alkane composed of 4 carbon atoms. tmpxe7fu0cj_hp_relaxed.owl E 943a|n-butane|E943a|n-Butan|butane|E-943a|N-BUTANE|n-C4H10|R-600 0 C4H10 InChI=1S/C4H10/c1-3-4-2/h3-4H2,1-2H3 IJDNQMDRQITEOD-UHFFFAOYSA-N 58.12220 58.07825 CCCC PDBeChem:NBU|CAS:106-97-8|PMID:24179026|Reaxys:969129|Wikipedia:Butane|Gmelin:1148|Beilstein:969129 CHEBI:22945|CHEBI:44430|CHEBI:25462 chebi_ontology owl:Class CHEBI:18310 biolink:NamedThing alkane An acyclic branched or unbranched hydrocarbon having the general formula CnH2n+2, and therefore consisting entirely of hydrogen atoms and saturated carbon atoms. tmpxe7fu0cj_hp_relaxed.owl Alkane|alkanes|RH|alcanos|an alkane|Alkan|alcano|alcane|alcanes|alkane 0 CH3R 15.035 15.02348 C[*] KEGG:C01371 CHEBI:22317|CHEBI:2576|CHEBI:13435 chebi_ontology owl:Class CL:0000837 biolink:NamedThing hematopoietic multipotent progenitor cell A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans. tmpxe7fu0cj_hp_relaxed.owl hemopoietic progenitor cell|MPP CALOHA:TS-0448|BTO:0000725 Markers differ between mouse and human. cell owl:Class CL:0008001 biolink:NamedThing hematopoietic precursor cell Any hematopoietic cell that is a precursor of some other hematopoietic cell type. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0010568 biolink:NamedThing Hamartoma of the eye A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023788 sandra1 2009-10-17T12:57:24Z human_phenotype owl:Class HP:0030670 biolink:NamedThing Hamartoma of the orbital region A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073121 owl:Class GO:0010556 biolink:NamedThing regulation of macromolecule biosynthetic process Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0009889 biolink:NamedThing regulation of biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. tmpxe7fu0cj_hp_relaxed.owl regulation of anabolism|regulation of biosynthesis|regulation of synthesis|regulation of formation biological_process owl:Class HP:0000359 biolink:NamedThing Abnormality of the inner ear An abnormality of the inner ear. tmpxe7fu0cj_hp_relaxed.owl Inner ear abnormality|Abnormality of the inner ear UMLS:C4021809 human_phenotype owl:Class CHEBI:50312 biolink:NamedThing onium compound tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:37577 biolink:NamedThing heteroatomic molecular entity A molecular entity consisting of two or more chemical elements. tmpxe7fu0cj_hp_relaxed.owl heteroatomic molecular entities|chemical compound chebi_ontology owl:Class UBERON:0003080 biolink:NamedThing anterior neural tube tmpxe7fu0cj_hp_relaxed.owl TAO:0007038|ZFA:0007038|VHOG:0001384|XAO:0000307|AAO:0011012 TODO - add grouping class for the anterior end of the neural tube at all stages uberon owl:Class (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...).[well established][VHOG] HP:0500041 biolink:NamedThing Myopic astigmatism A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest. tmpxe7fu0cj_hp_relaxed.owl 2018-02-02 15:53:24+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0000483 biolink:NamedThing Astigmatism A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. tmpxe7fu0cj_hp_relaxed.owl Astigmatism|Abnormal curving of the cornea or lens of the eye MSH:D001251|SNOMEDCT_US:82649003|UMLS:C0004106 The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision. owl:Class GO:0042754 biolink:NamedThing negative regulation of circadian rhythm Any process that stops, prevents, or reduces the frequency, rate or extent of a circadian rhythm behavior. tmpxe7fu0cj_hp_relaxed.owl inhibition of circadian rhythm|downregulation of circadian rhythm|down regulation of circadian rhythm|down-regulation of circadian rhythm biological_process owl:Class CL:1000222 biolink:NamedThing stomach neuroendocrine cell tmpxe7fu0cj_hp_relaxed.owl owl:Class CL:0002178 biolink:NamedThing epithelial cell of stomach An epithelial cell found in the lining of the stomach. tmpxe7fu0cj_hp_relaxed.owl FMA:62948 tmeehan 2010-08-25T03:22:08Z CL:1000399 cell owl:Class HP:0010883 biolink:NamedThing Aortic valve atresia A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. tmpxe7fu0cj_hp_relaxed.owl Aortic atresia UMLS:C0265843|SNOMEDCT_US:51442005 peter 2010-09-20T11:09:46Z human_phenotype owl:Class HP:0001646 biolink:NamedThing Abnormal aortic valve morphology Any abnormality of the aortic valve. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the aortic valve SNOMEDCT_US:448743001|UMLS:C3164445|Fyler:1400|Fyler:1408 human_phenotype owl:Class UBERON:0005989 biolink:NamedThing atrioventricular septum The wall of the heart that separates the right atrium and left ventricle; and is located just above the septal cusp of the tricuspid valve. tmpxe7fu0cj_hp_relaxed.owl membranous atrioventricular septum EMAPA:37431|Wikipedia:Atrioventricular_septum|FMA:7136|SCTID:280151006 uberon owl:Class UBERON:0002099 biolink:NamedThing cardiac septum The thin membranous structure between the two heart atria or the thick muscular structure between the two heart ventricles. tmpxe7fu0cj_hp_relaxed.owl septum of heart|heart septa|spiral septa|heart septum|cardiac septa NCIT:C49485|GAID:562|UMLS:C0018819|MA:0000083|EMAPA:35400|MESH:D006346|SCTID:362014000|FMA:7180 uberon owl:Class 'Terrestrial vertebrates have divided hearts in which septae separate the oxygenated and deoxygenated blood within the pulmonary and systemic circulations' in GO, septum morphogenesis is part of cardiac chamber morphogenesis; need to add axioms to infer this HP:0003991 biolink:NamedThing Osteosclerosis of the ulna Osteosclerosis (increased density related to increased bone mass) of the ulna. tmpxe7fu0cj_hp_relaxed.owl Sclerotic ulna UMLS:C4021697 owl:Class HP:0003967 biolink:NamedThing Sclerotic forearm bones tmpxe7fu0cj_hp_relaxed.owl Increased bone density of forearm bones UMLS:C4025472 human_phenotype owl:Class HP:0025616 biolink:NamedThing Sterile abscess An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 22:44:34+00:00 HPO:probinson owl:Class HP:0025615 biolink:NamedThing Abscess tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 22:41:54+00:00 HPO:probinson owl:Class HP:0002256 biolink:NamedThing Small bowel diverticula tmpxe7fu0cj_hp_relaxed.owl UMLS:C0267498|SNOMEDCT_US:8114009|MEDDRA:10013533 human_phenotype owl:Class HP:0007824 biolink:NamedThing Total ophthalmoplegia Paralysis of both the extrinsic and intrinsic ocular muscles. tmpxe7fu0cj_hp_relaxed.owl Total internal and external ophthalmoplegia|Complete ophthalmoplegia|Global paralysis of gaze SNOMEDCT_US:78097002|UMLS:C0155338 human_phenotype owl:Class HP:0008142 biolink:NamedThing Delayed calcaneal ossification Delayed maturation and calcification of the calcaneus. tmpxe7fu0cj_hp_relaxed.owl Delayed heel bone maturation UMLS:C4024728|UMLS:C4280414 human_phenotype owl:Class HP:0008103 biolink:NamedThing Delayed tarsal ossification Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. tmpxe7fu0cj_hp_relaxed.owl Tarsal delayed ossification|Delayed ankle bone maturation UMLS:C4280418|UMLS:C1846853 HP:0008145 human_phenotype owl:Class GO:1905653 biolink:NamedThing positive regulation of artery morphogenesis Any process that activates or increases the frequency, rate or extent of artery morphogenesis. tmpxe7fu0cj_hp_relaxed.owl positive regulation of arteriogenesis|up regulation of artery morphogenesis|positive regulation of arterial morphogenesis|activation of arteriogenesis|upregulation of artery morphogenesis|up regulation of arteriogenesis|upregulation of arterial morphogenesis|upregulation of arteriogenesis|up-regulation of arterial morphogenesis|up-regulation of artery morphogenesis|activation of artery morphogenesis|up-regulation of arteriogenesis|activation of arterial morphogenesis|up regulation of arterial morphogenesis rph 2016-11-09T12:20:01Z biological_process owl:Class PR:000050183 biolink:NamedThing immunoglobulin light chain protein (human) An immunoglobulin light chain protein that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl hIgL Category=organism-family. Note: The kappa light chain locus is described by https://www.genenames.org/cgi-bin/genefamilies/set/351, and the lambda light chain locus is described by https://www.genenames.org/cgi-bin/genefamilies/set/353. protein owl:Class HP:0030400 biolink:NamedThing Abnormal platelet lysosome secretion Abnormal release of lysosome contents from platelets. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072933 owl:Class HP:0030396 biolink:NamedThing Abnormal platelet granule secretion Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072929 owl:Class UBERON:0004692 biolink:NamedThing external naris epithelium An epithelium that is part of an external naris [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18596|MA:0001321 uberon owl:Class GO:1900149 biolink:NamedThing positive regulation of Schwann cell migration Any process that activates or increases the frequency, rate or extent of Schwann cell migration. tmpxe7fu0cj_hp_relaxed.owl upregulation of Schwann cell migration|up-regulation of Schwann cell migration|up regulation of Schwann cell migration|activation of Schwann cell migration bf 2012-03-06T04:14:58Z biological_process owl:Class GO:1903977 biolink:NamedThing positive regulation of glial cell migration Any process that activates or increases the frequency, rate or extent of glial cell migration. tmpxe7fu0cj_hp_relaxed.owl upregulation of glia cell migration|upregulation of glial cell migration|up-regulation of glia cell migration|up-regulation of glial cell migration|activation of glia cell migration|up regulation of glial cell migration|activation of glial cell migration|positive regulation of glia cell migration|up regulation of glia cell migration nc 2015-03-02T15:13:43Z biological_process owl:Class HP:0046507 biolink:NamedThing Bradypnea Bradypnea is referring to breathing that is abnormally slow. tmpxe7fu0cj_hp_relaxed.owl SNOMED_CT:86684002 owl:Class HP:0030127 biolink:NamedThing Endometriosis The growth of endometrial tissue outside the uterus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0014175|SNOMEDCT_US:396224008|MSH:D004715|SNOMEDCT_US:129103003 The main manifestations of endometriosis are chronic upper abdominal pain and infertility. Endometriosis occurs primarily on the pelvic peritoneum, ovaries, and rectovaginal septum, and in rare cases on the diaphragm, pleura, and pericardium. Endometriosis affects 6 to 10% of women of reproductive age, 50 to 60% of women and teenage girls with pelvic pain, and up to 50% of women with infertility. Peritoneal disease, which is dependent on estrogen for growth, derives from retrograde menstruation of steroid hormone sensitive endometrial cells and tissues, which implant on peritoneal surfaces and elicit an inflammatory response. This response is accompanied by angiogenesis, adhesions, fibrosis, scarring, neuronal infiltration, and anatomical distortion resulting in pain and infertility. HP:0030013 owl:Class HP:0006778 biolink:NamedThing Benign genitourinary tract neoplasm A non-malignant neoplasm of the genitourinary system. tmpxe7fu0cj_hp_relaxed.owl Benign genitourinary tract tumour|Benign GU tract neoplasm|Benign genitourinary tract tumor UMLS:C3804991 human_phenotype owl:Class HP:0007379 biolink:NamedThing Neoplasm of the genitourinary tract A tumor (abnormal growth of tissue) of the genitourinary system. tmpxe7fu0cj_hp_relaxed.owl Genitourinary tract neoplasm|Genitourinary tract tumors|Genitourinary tract neoplasia|Genitourinary tract tumours|Neoplasm of the GU tract NCIT:C3262|UMLS:C0042065|MSH:D014565|UMLS:C4020809 peter 2008-04-01T12:00:00Z human_phenotype owl:Class HP:0011506 biolink:NamedThing Choroidal neovascularization Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023323 This is a common symptom of the degenerative maculopathy wet age-related macular degeneration. peter 2012-04-06T09:28:46Z human_phenotype owl:Class HP:0009524 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Absent end part of innermost long bone of index finger UMLS:C4024309 doelkens 2009-01-16T01:12:34Z human_phenotype owl:Class HP:0010268 biolink:NamedThing Absent epiphyses of the proximal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Absent end part of the innermost hand bones UMLS:C4023933 doelkens 2009-07-06T04:25:12Z human_phenotype owl:Class UBERON:0015145 biolink:NamedThing pes hair A strand of hair that is part of a pes. tmpxe7fu0cj_hp_relaxed.owl hind paw hair|hair of foot|foot hair|hind foot hair uberon owl:Class UBERON:0001037 biolink:NamedThing strand of hair A filament, mostly protein, that grows from follicles found in the dermis[WP]. tmpxe7fu0cj_hp_relaxed.owl vibrissa|fur|microchaeta|whisker|coat hair|coat/ hair|hair|quill|setulae EFO:0000958|FMA:53667|MA:0000155|CALOHA:TS-0430|MAT:0000160|BTO:0001501|VHOG:0001191|MIAA:0000160|MESH:D006197|UMLS:C0018494|EMAPA:18769|OpenCyc:Mx4rvVjOX5wpEbGdrcN5Y29ycA-Mp88EdaAAACgycbRww|EV:0100157|GAID:71|NCIT:C32705 this class defines an individual hair http://upload.wikimedia.org/wikipedia/commons/2/25/Gray945.png TODO for now we treat vibrissa/whisker as a syonym, but these have different follicles. We could introduce subclasses (see also: Pangolin scales) uberon owl:Class HP:0011991 biolink:NamedThing Abnormal neutrophil count A deviation from the normal range of neutrophil cell counts in the circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal neutrophil cell number UMLS:C4023092 peter 2012-07-19T10:59:14Z human_phenotype owl:Class HP:0001874 biolink:NamedThing Abnormality of neutrophils A neutrophil abnormality. tmpxe7fu0cj_hp_relaxed.owl Abnormality of polymorphonuclear neutrophils|Abnormality of neutrophils|Abnormality of neutrophil SNOMEDCT_US:250274006|UMLS:C0427515 Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day. human_phenotype owl:Class HP:0005004 biolink:NamedThing Flattened proximal radial epiphyses An abnormally flat form of the proximal epiphysis of the radius. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849065 human_phenotype owl:Class HP:0010426 biolink:NamedThing Complete duplication of the middle phalanx of the 2nd toe Complete duplication of middle phalanx of second toe. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the middle bone of the 2nd toe UMLS:C4023833 doelkens 2009-07-16T12:58:18Z human_phenotype owl:Class HP:0009147 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 5th finger Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the outermost bone of pinkie finger|Enlarged end part of the outermost bone of little finger|Enlarged end part of the outermost bone of pinky finger UMLS:C4024572 peter 2008-12-22T01:39:32Z human_phenotype owl:Class HP:0009198 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 5th finger Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the epiphysis of the terminal phalanx of the little finger|Abnormality of end part of the outermost bone of the pinky finger|Abnormality of end part of the outermost bone of the pinkie finger|Abnormality of end part of the outermost bone of the little finger UMLS:C4021512 doelkens 2009-01-05T04:41:32Z HP:0004228 human_phenotype owl:Class HP:0004783 biolink:NamedThing Duodenal polyposis Presence of multiple polyps in the duodenum. tmpxe7fu0cj_hp_relaxed.owl Multiple duodenal polyps SNOMEDCT_US:301797007|UMLS:C0578477 human_phenotype owl:Class HP:0030256 biolink:NamedThing Small intestinal polyposis The presence of multiple polyps in the small intestine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022555 owl:Class GO:0003273 biolink:NamedThing cell migration involved in endocardial cushion formation The orderly movement of a cell from one site to another that will contribute to the formation of an endocardial cushion. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-20T09:08:44Z biological_process owl:Class GO:0060973 biolink:NamedThing cell migration involved in heart development The orderly movement of a cell from one site to another that will contribute to the progression of the heart over time, from its initial formation, to the mature organ. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-06T10:53:49Z biological_process owl:Class GO:1903568 biolink:NamedThing negative regulation of protein localization to ciliary membrane Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to ciliary membrane. tmpxe7fu0cj_hp_relaxed.owl inhibition of protein localisation to ciliary membrane|inhibition of protein localization to ciliary membrane|downregulation of protein localisation to ciliary membrane|down-regulation of protein localisation in ciliary membrane|downregulation of protein localisation in ciliary membrane|downregulation of protein localization to ciliary membrane|negative regulation of protein localisation to ciliary membrane|negative regulation of protein localization in ciliary membrane|down-regulation of protein localization to ciliary membrane|down regulation of protein localisation in ciliary membrane|down regulation of protein localization in ciliary membrane|negative regulation of protein localisation in ciliary membrane|down-regulation of protein localisation to ciliary membrane|down-regulation of protein localization in ciliary membrane|downregulation of protein localization in ciliary membrane|down regulation of protein localisation to ciliary membrane|down regulation of protein localization to ciliary membrane|inhibition of protein localisation in ciliary membrane|inhibition of protein localization in ciliary membrane krc 2014-10-24T21:32:59Z biological_process owl:Class GO:1903567 biolink:NamedThing regulation of protein localization to ciliary membrane Any process that modulates the frequency, rate or extent of protein localization to ciliary membrane. tmpxe7fu0cj_hp_relaxed.owl regulation of protein localisation in ciliary membrane|regulation of protein localization in ciliary membrane|regulation of protein localisation to ciliary membrane krc 2014-10-24T21:32:51Z biological_process owl:Class HP:0030599 biolink:NamedThing Abnormal Estermann grid perimetry test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073071 owl:Class HP:0030595 biolink:NamedThing Abnormal static automated perimetry test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073067 owl:Class UBERON:0000105 biolink:NamedThing life cycle stage A spatiotemporal region encompassing some part of the life cycle of an organism. tmpxe7fu0cj_hp_relaxed.owl stage|developmental stage XAO:1000000|EFO:0000399|ZFS:0000000|ZFS:0100000|FBdv:00007012|OlatDv:0000010|BILS:0000105|MmusDv:0000000|PdumDv:0000090|ncithesaurus:Developmental_Stage|FMA:24120|WBls:0000002|HsapDv:0000000 this class represents a proper part of the life cycle of an organism. The class 'life cycle' should not be placed here uberon owl:Class we map the ZFS unknown stage here as it is logically equivalent to saying *some* life cycle stage|the WBls class 'all stages' belongs here as it is the superclass of other WBls stages UBERON:0010335 biolink:NamedThing maxillary process mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a maxillary process mesenchyme. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004602 uberon owl:Class UBERON:0009526 biolink:NamedThing maxillary process mesenchyme Mesenchyme that is part of a maxillary prominence. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of maxillary prominence|mesenchyme of maxillary process EMAPA:17361|EHDAA2:0001071|FMA:312691 uberon owl:Class UBERON:0034921 biolink:NamedThing multi organ part structure An multicellular anatomical structure that has subparts of multiple organs as a part. tmpxe7fu0cj_hp_relaxed.owl anatomical cluster CARO:0020001 uberon owl:Class HP:0001057 biolink:NamedThing Aplasia cutis congenita A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. tmpxe7fu0cj_hp_relaxed.owl Congenital absence of skin|Congenital scars|Absence of part of skin at birth|Cutis aplasia UMLS:C0282160|SNOMEDCT_US:35484002|MEDDRA:10002963|SNOMEDCT_US:74223008|SNOMEDCT_US:254237003|MSH:D004476|UMLS:C0265989 human_phenotype owl:Class UBERON:0001850 biolink:NamedThing lacrimal drainage system A collection of channels that connects the conjunctival sac with the nasal cavity, encompassing the lacrimal ducts, the lacrimal sac and the naso-lacrimal duct. tmpxe7fu0cj_hp_relaxed.owl lacrimal duct|tear duct MA:0001295|FMA:61063|EMAPA:19245 TODO - resolve lacrimal canaliculus vs larcimal duct uberon owl:Class chelonians lack a lacrimal duct, and lacrimal/harderian secretions remain in or spill from the conjunctival sac[PMID:7559104] CHEBI:35489 biolink:NamedThing organic disulfide Compounds of structure RSSR in which R and R' are organic groups. tmpxe7fu0cj_hp_relaxed.owl disulfides|an organic disulfide|organic disulfides 0 S2R2 64.13000 63.94414 [*]SS[*] chebi_ontology owl:Class CHEBI:48343 biolink:NamedThing disulfide Compounds of structure RSSR'. tmpxe7fu0cj_hp_relaxed.owl disulfides chebi_ontology owl:Class GO:1901610 biolink:NamedThing positive regulation of vesicle transport along microtubule Any process that activates or increases the frequency, rate or extent of vesicle transport along microtubule. tmpxe7fu0cj_hp_relaxed.owl activation of microtubule-based vesicle localization|positive regulation of microtubule-based vesicle localization|up-regulation of microtubule-based vesicle localization|up-regulation of vesicle transport along microtubule|up regulation of vesicle transport along microtubule|activation of vesicle transport along microtubule|up regulation of microtubule-based vesicle localization|upregulation of microtubule-based vesicle localization|upregulation of vesicle transport along microtubule hjd 2012-11-08T21:49:53Z biological_process owl:Class GO:0032388 biolink:NamedThing positive regulation of intracellular transport Any process that activates or increases the frequency, rate or extent of the directed movement of substances within cells. tmpxe7fu0cj_hp_relaxed.owl stimulation of intracellular transport|up-regulation of intracellular transport|upregulation of intracellular transport|activation of intracellular transport|up regulation of intracellular transport biological_process owl:Class HP:0001271 biolink:NamedThing Polyneuropathy A generalized disorder of peripheral nerves. tmpxe7fu0cj_hp_relaxed.owl Peripheral nerve disease SNOMEDCT_US:42658009|MSH:D011115|SNOMEDCT_US:42345000|MSH:D010523|UMLS:C0031117|UMLS:C0152025|SNOMEDCT_US:302226006 HP:0006941|HP:0007287 owl:Class UBERON:0035651 biolink:NamedThing glans tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0000063 biolink:NamedThing organ subunit A part of an organ that constitutes a distinct modular sub-unit. In some cases, the organ may also contain other sub-units of identical or similar types, in other cases this may be a distinct entity. tmpxe7fu0cj_hp_relaxed.owl segment of organ|organ segment|organ region with fixed fiat boundary FMA:86140 FMA distinguishes segment from zone by whether the fiat boundaries are fixed/anchored (segments) or floating (zone). It's not completely clear how to apply this distinction uberon owl:Class Organ region with one or more fixed or anchored fiat boundaries. Examples: artery, trunk of nerve, cervical part of esophagus, pelvic part of vagina, horn of thyroid cartilage, anterior segment of eyebal.|Organ region with one or more anchored fiat boundaries. Examples: artery, trunk of nerve, cervical part of esophagus, pelvic part of vagina, horn of thyroid cartilage, anterior segment of eyeball. HP:0003701 biolink:NamedThing Proximal muscle weakness A lack of strength of the proximal muscles. tmpxe7fu0cj_hp_relaxed.owl Proximal limb weakness|Proximal limb muscle weakness|Proximal neurogenic muscle weakness|Muscle weakness, proximal|Weakness in muscles of upper arms and upper legs SNOMEDCT_US:249939004|UMLS:C0221629|UMLS:C1838869 Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. HP:0008975|HP:0003475|HP:0003432|HP:0007195|HP:0009033|HP:0008961|HP:0008950|HP:0009075 human_phenotype owl:Class CL:0002663 biolink:NamedThing myocardial endocrine cell of atrium A myocardial endocrine cell that is part of the atrium. tmpxe7fu0cj_hp_relaxed.owl FMA:83389 tmeehan 2011-07-11T02:45:39Z cell owl:Class CL:0002074 biolink:NamedThing myocardial endocrine cell The myoendocrine cellis a specialized myocyte localized mainly in the right and left atrial appendages, and also scattered within other areas of the atria and along the conductive system in the ventricular septum. The most conspicuous feature distinguishing myoendocrine cells from other atrial myoctyes is the presence of membane-bounded secretory granules (these granules contain precursor of cardiodilatins or atrial natriuretic polypeptides). tmpxe7fu0cj_hp_relaxed.owl FMA:67111 tmeehan 2010-06-29T11:50:47Z cell owl:Class HP:0008890 biolink:NamedThing Severe short-limb dwarfism tmpxe7fu0cj_hp_relaxed.owl UMLS:C1860105 human_phenotype owl:Class GO:0061051 biolink:NamedThing positive regulation of cell growth involved in cardiac muscle cell development Any process that increases the rate, frequency, or extent of the growth of a cardiac muscle cell, where growth contributes to the progression of the cell over time from its initial formation to its mature state. tmpxe7fu0cj_hp_relaxed.owl dph 2010-02-25T01:08:08Z biological_process owl:Class GO:0051155 biolink:NamedThing positive regulation of striated muscle cell differentiation Any process that activates or increases the frequency, rate or extent of striated muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl upregulation of striated muscle cell differentiation|stimulation of striated muscle cell differentiation|up-regulation of striated muscle cell differentiation|up regulation of striated muscle cell differentiation|activation of striated muscle cell differentiation biological_process owl:Class HP:0030307 biolink:NamedThing Flared lower limb metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg. tmpxe7fu0cj_hp_relaxed.owl Flared metaphysis of lower limb bone UMLS:C4022520 owl:Class HP:0003015 biolink:NamedThing Flared metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. tmpxe7fu0cj_hp_relaxed.owl marked metaphyseal flaring of long bones|Metaphyseal flaring|Flared, widened metaphyses|Metaphyses flared|Metaphyseal splaying|Flared wide portion of long bone|Splayed metaphyses|Metaphyseal flaring of long bones UMLS:C1850135 Figure 11 of PMID:12853662 shows metaphyseal flaring. HP:0004994|HP:0003047|HP:0200002|HP:0000945|HP:0005095|HP:0005015 human_phenotype owl:Class GO:0050869 biolink:NamedThing negative regulation of B cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of B cell activation. tmpxe7fu0cj_hp_relaxed.owl down regulation of B cell activation|negative regulation of B lymphocyte activation|downregulation of B cell activation|down-regulation of B cell activation|inhibition of B cell activation|negative regulation of B-lymphocyte activation|negative regulation of B-cell activation biological_process owl:Class HP:0031172 biolink:NamedThing Sectoral retinitis pigmentosa A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration. tmpxe7fu0cj_hp_relaxed.owl 2017-06-18 20:05:46+00:00 peter owl:Class HP:0000510 biolink:NamedThing Rod-cone dystrophy An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. tmpxe7fu0cj_hp_relaxed.owl Retinitis pigmentosa|Rod cone dystrophy MSH:D012174|UMLS:C0035334|SNOMEDCT_US:28835009 Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience. HP:0000547|HP:0001127|HP:0008036|HP:0007826|HP:0007645|HP:0007742|HP:0007816|HP:0007927|HP:0007635 human_phenotype owl:Class HP:0030962 biolink:NamedThing Abnormal morphology of the great vessels A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. tmpxe7fu0cj_hp_relaxed.owl 2017-04-18 13:00:44+00:00 robinp owl:Class HP:0006500 biolink:NamedThing Abnormality of lower limb epiphysis morphology An anomaly of one or more epiphyses of one or both legs. tmpxe7fu0cj_hp_relaxed.owl Abnormality involving the epiphyses of the lower limbs|Abnormal shape of end part of lower limb end bone UMLS:C4021595 peter 2008-03-28T06:31:00Z owl:Class UBERON:0006675 biolink:NamedThing venous valve A valve that is part of a vein. tmpxe7fu0cj_hp_relaxed.owl valve of vein FMA:68095 uberon owl:Class UBERON:0009124 biolink:NamedThing geniculate placode Rostralmost epibranchial placode. Associated with 1st branchial cleft. tmpxe7fu0cj_hp_relaxed.owl facial epibranchial placode|hyoid placode|facial placode|epibranchial placode 1|facial VII placode|hyoid VII placode ZFA:0001295|EHDAA2:0004206|XAO:0004211|TAO:0001295 Taxonomic equivalence to EHDAA2 class made on basis of shared development: gives rise to geniculate ganglion uberon owl:Class UBERON:0018707 biolink:NamedThing bladder organ A membranous sac in animals that serves as the receptacle of a liquid or contains gas. tmpxe7fu0cj_hp_relaxed.owl bladder BTO:0000123 uberon owl:Class UBERON:0009856 biolink:NamedThing sac tmpxe7fu0cj_hp_relaxed.owl diverticulum|pouch galen:Diverticulum uberon owl:Class UBERON:0009669 biolink:NamedThing embryonic cloacal lumen An anatomical space that surrounded_by a embryonic cloaca. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004586 uberon owl:Class HP:0030051 biolink:NamedThing Tip-toe gait An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. tmpxe7fu0cj_hp_relaxed.owl Walking on tiptoes|Toe walking|Tiptoe gait UMLS:C1843570 Tip-toe walking (or simply toe-walking) is common in healthy young children, and should resolve spontaneously by 3 years of age. After this age, tip-toe gait must be differentiated from habitual toe gait, congenital short tendo calcaneus, cerebral palsy, syringomyelia, spinal tumor, hematoma in a lower limb muscle, or neuromuscular diseases like muscular dystrophy, Charcot-Marie-Tooth disease and hereditary sensorimotor neuropathies. If the toe gait persists for 2-3 years, this gait pattern is not considered to be habitual. Therefore, the judgment of habitual toe gait should not be determined without evaluation for other diseases. HP:0002394|HP:0040083 owl:Class GO:0030036 biolink:NamedThing actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. tmpxe7fu0cj_hp_relaxed.owl actin modulating activity|actin cytoskeleton organization and biogenesis|actin cytoskeleton organisation biological_process owl:Class GO:0030029 biolink:NamedThing actin filament-based process Any cellular process that depends upon or alters the actin cytoskeleton, that part of the cytoskeleton comprising actin filaments and their associated proteins. tmpxe7fu0cj_hp_relaxed.owl microfilament-based process biological_process owl:Class HP:0033350 biolink:NamedThing Elevated forced expiratory volume in one second An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject. tmpxe7fu0cj_hp_relaxed.owl Elevated FEV1 2020-11-30 22:24:30+00:00 peter owl:Class HP:0030878 biolink:NamedThing Abnormality on pulmonary function testing Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. tmpxe7fu0cj_hp_relaxed.owl Abnormal pulmonary function test|Abnormal spirometry test UMLS:C4280728 HP:0032340 owl:Class HP:0006064 biolink:NamedThing Limited interphalangeal movement tmpxe7fu0cj_hp_relaxed.owl Limited movement of hinge joints UMLS:C1840089 human_phenotype owl:Class HP:0001376 biolink:NamedThing Limitation of joint mobility A reduction in the freedom of movement of one or more joints. tmpxe7fu0cj_hp_relaxed.owl Limited joint mobility|Decreased mobility of joints|Decreased joint mobility|Limited joint motion|Limitation of joint mobility UMLS:C1857108 HP:0003101 human_phenotype owl:Class UBERON:0035048 biolink:NamedThing parotid gland excretory duct Any of the interlobular excretory ducts of the parotid gland which are found in the connective tissue septa and formed by the union of several intralobular striated (secretory) ducts; ultimately, the excretory ducts of the parotid gland coalesce and form a single main excretory duct (Stensen's duct) that opens into the oral cavity; excretory ducts do not change the secretory product. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0035050 biolink:NamedThing excretory duct tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0012611 biolink:NamedThing Increased urinary urate Elevated concentration of urate in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0878672 Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. peter 2014-01-17T11:57:29Z human_phenotype owl:Class HP:0012610 biolink:NamedThing Abnormality of urinary uric acid level Abnormal amount of urate in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022822 Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. peter 2014-01-17T11:56:43Z owl:Class UBERON:0004572 biolink:NamedThing arterial system The part of the cardiovascular system consisting of all arteries. tmpxe7fu0cj_hp_relaxed.owl BTO:0004690|EMAPA:16201|EHDAA:396|MA:0002719|VHOG:0000273|EHDAA2:0000143|EMAPA:16371|SCTID:362030008 uberon owl:Class The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] UBERON:0007798 biolink:NamedThing vascular system Anatomical system that consists of all blood and lymph vessels. tmpxe7fu0cj_hp_relaxed.owl NCIT:C33854|MA:0002718|EMAPA:35905|CALOHA:TS-2053|EHDAA2:0004520|BTO:0001085|UMLS:C0489903 consider merging with vasculature uberon owl:Class The cardiovascular and lymphatic systems, collectively[ncithesaurus:Vascular_System]. in both MA and BTO, the arterial system and venous sytem are subtypes of the vascular system HP:0040108 biolink:NamedThing Morphological abnormality of the anterior semicircular canal tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022435 HPO:skoehler owl:Class HP:0011380 biolink:NamedThing Morphological abnormality of the semicircular canal An abnormality of the morphology of the semicircular canal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023386 peter 2012-03-09T07:12:21Z human_phenotype owl:Class HP:0000365 biolink:NamedThing Hearing impairment A decreased magnitude of the sensory perception of sound. tmpxe7fu0cj_hp_relaxed.owl Hypacusis|Hearing impairment|Hearing defect|Hypoacusis|Deafness|Hearing loss UMLS:C0339789|SNOMEDCT_US:15188001|UMLS:C0011053|SNOMEDCT_US:343087000|MSH:D034381|SNOMEDCT_US:103276001|Fyler:4868|SNOMEDCT_US:95828007|UMLS:C0018772|UMLS:C1384666|MSH:D003638 Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. HP:0001754|HP:0001728|HP:0008563|HP:0008560|HP:0000404|HP:0001729 owl:Class HP:0025063 biolink:NamedThing Scaphoid abdomen The anterior abdominal wall is sunken and presents a concave rather than a convex contour. tmpxe7fu0cj_hp_relaxed.owl 2016-09-26 09:54:43+00:00 Scaphoid abdomen can be observed in diseases such as congenital diaphragmatic hernia (since the abdominal contents can be in the thorax). HPO:probinson owl:Class HP:3000054 biolink:NamedThing Abnormality of inferior alveolar artery An abnormality of an inferior alveolar artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073262 vasilevs 2015-08-07T01:09:11Z human_phenotype owl:Class HP:0031816 biolink:NamedThing Abnormal oral morphology Any structural anomaly of the mouth, which is also known as the oral cavity. tmpxe7fu0cj_hp_relaxed.owl 2018-04-29 14:55:47+00:00 peter owl:Class HP:0032239 biolink:NamedThing Increased circulating band cell count An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2. tmpxe7fu0cj_hp_relaxed.owl Left shift|Increased circulating band form neutrophils 2019-01-26 17:28:36+00:00 peter owl:Class HP:0032236 biolink:NamedThing Increased circulating immature neutrophil count An abnormally increased number of immature neutrophils in the peripheral blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-01-26 17:21:30+00:00 Various forms of immature neutrophils appear during granulopoiesis in the bone marrow. A seven day mitotic stage (myeloblast to promyelocyte to myelocyte) is followed by a seven day maturation stage (myelocyte to metamyelocyte to band cell to mature segmented neutrophil). Mature neutrophils are normally held in storage pools in the bone marrow before their entry into the circulation. peter owl:Class UBERON:0014705 biolink:NamedThing median lingual swelling epithelium An epithelium that is part of a median lingual swelling. tmpxe7fu0cj_hp_relaxed.owl tuberculum impar epitheilium EMAPA:17188|EHDAA2:0001085 uberon owl:Class GO:1902868 biolink:NamedThing positive regulation of retina development in camera-type eye Any process that activates or increases the frequency, rate or extent of retina development in camera-type eye. tmpxe7fu0cj_hp_relaxed.owl positive regulation of retinal development|positive regulation of retina development in camera-style eye|upregulation of retina development in camera-type eye|activation of retina development in camera-style eye|activation of retinal development|up-regulation of retina development in camera-style eye|upregulation of retina development in camera-style eye|up regulation of retina development in camera-style eye|up-regulation of retinal development|upregulation of retinal development|up-regulation of retina development in camera-type eye|up regulation of retinal development|up regulation of retina development in camera-type eye|activation of retina development in camera-type eye mr 2014-04-03T15:24:29Z biological_process owl:Class UBERON:0001285 biolink:NamedThing nephron The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP]. tmpxe7fu0cj_hp_relaxed.owl tubulus renalis|mature nephron|nephroneum EMAPA:28491|GAID:428|NCIT:C13048|MA:0000375|FMA:17640|MESH:D009399|TAO:0002153|UMLS:C0027713|ZFA:0005282|BTO:0000924|EV:0100384|EMAPA:35592|CALOHA:TS-1312 http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png kidney terms require review for cross-vertebrate compatibility and developmental relationships. uberon owl:Class Functional unit of the kidney that filters waste.[TAO] In the avian kidney, three types of nephron are identified: mammalian-type nephrons with long and short loops of Henle, and reptilian type nephrons (Gambaryan, 1992) GO:0002785 biolink:NamedThing negative regulation of antimicrobial peptide production Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide production. tmpxe7fu0cj_hp_relaxed.owl downregulation of antimicrobial peptide production|down regulation of antimicrobial peptide production|down-regulation of antimicrobial peptide production|inhibition of antimicrobial peptide production biological_process owl:Class GO:0002784 biolink:NamedThing regulation of antimicrobial peptide production Any process that modulates the frequency, rate, or extent of antimicrobial peptide production. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0001780 biolink:NamedThing neutrophil homeostasis The process of regulating the proliferation and elimination of neutrophils such that the total number of neutrophils within a whole or part of an organism is stable over time in the absence of an outside stimulus. tmpxe7fu0cj_hp_relaxed.owl Note that this term represents the return of neutrophil levels to stable numbers following an immune response as well as the proliferation and elimination of neutrophils required to maintain stable numbers in the absence of an outside stimulus. biological_process owl:Class GO:0001776 biolink:NamedThing leukocyte homeostasis The process of regulating the proliferation and elimination of cells of the immune system such that the total number of cells of a particular cell type within a whole or part of an organism is stable over time in the absence of an outside stimulus. tmpxe7fu0cj_hp_relaxed.owl immune cell homeostasis|leucocyte homeostasis Note that this term represents the return of immune system cell levels to stable numbers following an immune response as well as the proliferation and elimination of cells of the immune system required to maintain stable numbers in the absence of an outside stimulus. biological_process owl:Class UBERON:0010031 biolink:NamedThing 6th arch mesenchyme Mesenchyme that is part of a pharyngeal arch 6. tmpxe7fu0cj_hp_relaxed.owl 6th pharyngeal arch mesenchyme|6th branchial arch mesenchyme|pharyngeal arch 6 mesenchyme EHDAA2:0004076|FMA:318209|EMAPA:32765 uberon owl:Class UBERON:0009494 biolink:NamedThing pharyngeal arch mesenchymal region A portion of mesenchymal tissue associated with an individual pharyngeal arch. tmpxe7fu0cj_hp_relaxed.owl branchial arch mesenchyme|pharyngeal arch mesenchyme FMA:295694|EMAPA:32755 this represents a part of the entire arch mesenchyme (UBERON:0010046), and is therefore a superclass of the individual arch mesenchyme classes. Alternate definition: primordial embryonic connective tissue associated with the branchial arches, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to facial and cranial nerve-associated structures. uberon owl:Class HP:0033512 biolink:NamedThing Stimulant addiction Addiction to a stimulant drug, defined as a drug that typically increases alertness, attention and energy while also elevating blood pressure, heart rate and breathing. tmpxe7fu0cj_hp_relaxed.owl Stimulant dependence 2021-01-13 12:19:03+00:00 peter owl:Class HP:0033511 biolink:NamedThing Drug addiction Chronic compulsive drug seeking and continued use despite harmful consequences. tmpxe7fu0cj_hp_relaxed.owl 2021-01-13 12:11:53+00:00 According to the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), drug addiction may be characterized by manifestations including: (1) The substance is often taken in larger amounts or over a longer period than was intended; (2) A persistent desire or unsuccessful effort to cut down or control use of the substance; (3) substantial time and effort spent to obtain the substance; (4) Craving; (5) Recurrent use of the substance resulting in a failure to fulfill major obligations; (6) Continued use of the substance despite interpersonal problems caused by substance use; (7) Important social, occupational, or recreational activities are given up (8) Recurrent use of the substance even in situations in which it is physically hazardous; (9) Use of the substance despite awareness of its problematic consequences; (10) Tolerance; and (11) Withdrawal symptoms. peter owl:Class UBERON:0001744 biolink:NamedThing lymphoid tissue Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes[WP]. tmpxe7fu0cj_hp_relaxed.owl lymphocytic tissue|lymphatic tissue FMA:55220|MESH:D008221|UMLS:C0024296|BTO:0000753|CALOHA:TS-0584|galen:LymphoidTissue|GAID:342|MA:0002436|NCIT:C13049 uberon owl:Class UBERON:0001479 biolink:NamedThing sesamoid bone A sesamoid element that is composed of bone tissue. tmpxe7fu0cj_hp_relaxed.owl ossa sesamoidea|sesamoid AEO:0000086|galen:SessamoidBone|MA:0001375|MESH:D012716|UMLS:C0036846|FMA:32672|EHDAA2:0003086|NCIT:C33541|EMAPA:36620|GAID:210 Sesamoids are often endochondral replacement elements and in addition to bone tissue, may also be composed of articular cartilage, fibrocartilage, hyaline cartilage, and calcified cartilage.[VSAO] http://upload.wikimedia.org/wikipedia/commons/b/b3/Gray350.png uberon owl:Class UBERON:0013630 biolink:NamedThing short bone Short bones are designated as those bones that are as wide as they are long. Their primary function is to provide support and stability with little to no movement. They are one of five types of bones: long, short, flat, irregular and sesamoid. Examples of these bones include the tarsals in the foot and the carpals in the hand. tmpxe7fu0cj_hp_relaxed.owl NCIT:C33545|FMA:7475 TODO - make subclass links uberon owl:Class HP:0030814 biolink:NamedThing Orange discolored tonsils A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903. tmpxe7fu0cj_hp_relaxed.owl Orange coloured tonsils|Orange colored tonsils|Tonsils with orange deposits|Orange discoloured tonsils|Orange tonsils UMLS:C4280753 owl:Class HP:0100765 biolink:NamedThing Abnormality of the tonsils An abnormality of the tonsils. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021975 doelkens 2011-06-07T10:43:35Z human_phenotype owl:Class GO:1903510 biolink:NamedThing mucopolysaccharide metabolic process The chemical reactions and pathways involving mucopolysaccharide. tmpxe7fu0cj_hp_relaxed.owl mucopolysaccharide metabolism dph 2014-10-01T21:55:47Z biological_process owl:Class GO:0030203 biolink:NamedThing glycosaminoglycan metabolic process The chemical reactions and pathways involving glycosaminoglycans, any of a group of polysaccharides that contain amino sugars. tmpxe7fu0cj_hp_relaxed.owl glycosaminoglycan metabolism biological_process owl:Class HP:0010300 biolink:NamedThing Abnormally low-pitched voice An abnormally low-pitched voice. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023915 peter 2009-07-12T12:19:22Z human_phenotype owl:Class HP:0003744 biolink:NamedThing Genetic anticipation with paternal anticipation bias A type of genetic anticipation observed predominantly upon transmission from affected males. tmpxe7fu0cj_hp_relaxed.owl Paternal anticipation bias UMLS:C1834002|UMLS:C4025574 human_phenotype owl:Class HP:0003743 biolink:NamedThing Genetic anticipation A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0600498|MSH:D020132 This mode of inheritance is characteristic of trinucleotide and some other repeat disorders. human_phenotype owl:Class GO:0048642 biolink:NamedThing negative regulation of skeletal muscle tissue development Any process that stops, prevents, or reduces the frequency, rate or extent of skeletal muscle tissue development. tmpxe7fu0cj_hp_relaxed.owl down-regulation of skeletal muscle development|down regulation of skeletal muscle development|inhibition of skeletal muscle development|downregulation of skeletal muscle development biological_process owl:Class GO:0048641 biolink:NamedThing regulation of skeletal muscle tissue development Any process that modulates the frequency, rate or extent of skeletal muscle tissue development. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0033319 biolink:NamedThing Fibrous crescent A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 13:37:23+00:00 peter owl:Class HP:0033316 biolink:NamedThing Glomerular crescent formation Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 13:27:03+00:00 The crescent is an unspecific histopathological lesion that can be triggered by a variety of different underlying disorders. Whenever, microvascular injury leads to rupture of the glomerular basement membrane (GBM), the leakage of plasma proteins drives parietal epithelial cell hyperplasia as the key cellular component of the crescent. Single nephron GFR decreases because of tuft collapse, rupture of the Bowman capsule, and influx of immune cells and fibroblasts are all secondary events that may or may not occur in individual glomeruli. Periglomerular immune cell infiltrates or fibrotic encasting of the activated parietal cells (fibrocellular crescents) are subsequent events that may affect the dynamics and prognosis of the disease. peter owl:Class HP:0009814 biolink:NamedThing Upper limb peromelia Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024199 doelkens 2009-02-23T05:06:12Z human_phenotype owl:Class HP:0009828 biolink:NamedThing Peromelia The distal parts of the limbs are missing leading to a stump formation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024192 doelkens 2009-02-23T05:17:25Z human_phenotype owl:Class HP:0012894 biolink:NamedThing Paraspinal muscle hypertrophy Muscle hypertrophy affecting the paraspinal muscles. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022689 peter 2014-06-23T10:59:48Z human_phenotype owl:Class HP:0003712 biolink:NamedThing Skeletal muscle hypertrophy Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells). tmpxe7fu0cj_hp_relaxed.owl Muscle hypertrophy|Muscular hypertrophy|Hypertrophic muscles|Increased skeletal muscle cells UMLS:C2265792 Increased muscle bulk based on clinical observation. human_phenotype owl:Class GO:0032240 biolink:NamedThing negative regulation of nucleobase-containing compound transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of nucleobases, nucleosides, nucleotides and nucleic acids, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid transport|inhibition of nucleobase, nucleoside, nucleotide and nucleic acid transport|downregulation of nucleobase, nucleoside, nucleotide and nucleic acid transport|down-regulation of nucleobase, nucleoside, nucleotide and nucleic acid transport|down regulation of nucleobase, nucleoside, nucleotide and nucleic acid transport biological_process owl:Class UBERON:0001675 biolink:NamedThing trigeminal ganglion The cranial ganglion that is associated with and extends fibers into the trigeminal nerve. tmpxe7fu0cj_hp_relaxed.owl ganglion semilunare|fused trigeminal ganglion|ganglion of trigeminal complex|Gasserian ganglia|fifth ganglion|Gasser's ganglion|ganglion trigeminale|trigeminus ganglion|Gasserian ganglion|5th ganglion|trigeminal V ganglion|semilunar ganglion|ganglion of trigeminal nerve|gV|trigeminal ganglia EHDAA:2113|FMA:52618|AAO:0011107|MA:0001080|GAID:725|EMAPA:16797|NCIT:C62642|BAMS:5Gn|ZFA:0000295|MAT:0000511|BTO:0001231|XAO:0000428|VHOG:0000694|TAO:0000295|MESH:D012668|UMLS:C0040995|BAMS:GV|XAO:0000427|EHDAA2:0002085|Wikipedia:Trigeminal_ganglion|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1402|EFO:0000903|SCTID:244449009 http://upload.wikimedia.org/wikipedia/commons/6/69/Gray776.png consider renaming this 'trigeminal ganglion complex'. The complex may be fused (amniotes) partially fused (xenopus) or separate (sharks) uberon owl:Class A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. Kimmel et al, 1995.[TAO] In Xenopus, the profundal and the trigeminal ganglia are separate distally but fused at their proximal end as they condense around NF stage 24. GO:0002821 biolink:NamedThing positive regulation of adaptive immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. tmpxe7fu0cj_hp_relaxed.owl upregulation of adaptive immune response|up regulation of adaptive immune response|activation of adaptive immune response|stimulation of adaptive immune response|up-regulation of adaptive immune response biological_process owl:Class HP:0025269 biolink:NamedThing Panic attack A sudden episode of intense fear in a situation in which there is no danger or apparent cause. tmpxe7fu0cj_hp_relaxed.owl Panic attack 2016-12-18 13:34:22+00:00 The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some individuals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying. HPO:probinson owl:Class PATO:0002157 biolink:NamedThing partially dislocated A positional quality inhering in a bearer by virtue of the bearer's being slightly out of its usual or proper place, or position. tmpxe7fu0cj_hp_relaxed.owl subluxation|suluxated towards|partial dislocated towards 2009-11-06T03:34:15Z PATO:0002160 quality owl:Class PATO:0001852 biolink:NamedThing dislocated A positional quality inhering in a bearer by virtue of the bearer's being out of its usual or proper place, or position. tmpxe7fu0cj_hp_relaxed.owl luxated|relational dislocated quality|dislocation|luxation PATO:0002159|PATO:0002158|PATO:0001479 quality owl:Class HP:0003564 biolink:NamedThing Folate-dependent fragile site at Xq28 The presence of a folate sensitive fragile site at chromosome Xq28. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839785 Fragile sites can be defined as heritable specific loci on human chromosomes that exhibit non-random gaps, constrictions or breaks when chromosomes are exposed to specific cell culture conditions. Over 120 different fragile sites have been identified in the human genome. Some of these sites are sensitive to folate, that is, they can be induced by a culture medium deficient in folic acid and thymidine, and hence a medium with lowered levels of dTTP or dCTP, two immediate components of DNA, or by a medium enriched either in methotrexate, an inhibitor of folate metabolism, or in fluorodeoxyuridine, an inhibitor of thymidylate synthesis. The folate-dependent fragile phenotype occurs if more than a critical number of CCG/CGG repeats are present (e.g., > 230 repeats for FRAXA). human_phenotype owl:Class HP:0040012 biolink:NamedThing Chromosome breakage Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. tmpxe7fu0cj_hp_relaxed.owl Tendency to chromosomal breakage|Increased chromosomal breakage rate|Multiple chromosomal breaks|High frequency of chromosome breaks in lymphocytes|Increased chromosomal breakage UMLS:C0376628|MSH:D019457 HPO:skoehler owl:Class HP:0032186 biolink:NamedThing Anal neoplasm A benign or malignant neoplasm that affects the anal canal or anal margin. tmpxe7fu0cj_hp_relaxed.owl 2019-01-15 10:13:37+00:00 peter owl:Class HP:0004378 biolink:NamedThing Abnormality of the anus Abnormality of the anal canal. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the anus UMLS:C4025329 The anal canal is continuous proximally with the rectum and distally terminates with the anus. peter 2008-03-18T08:11:00Z human_phenotype owl:Class UBERON:0001916 biolink:NamedThing endothelium of arteriole An endothelium that is part of an arteriole [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl arteriole endothelium UMLS:C1179024|NCIT:C49192|FMA:62115|MA:0000705|EMAPA:36286 uberon owl:Class UBERON:0004700 biolink:NamedThing arterial system endothelium An endothelium that is part of an arterial system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:35145|UMLS:C1706849|MA:0000703|NCIT:C49329 uberon owl:Class HP:0005476 biolink:NamedThing Widely patent sagittal suture The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856779 human_phenotype owl:Class HP:0005400 biolink:NamedThing Reduction of neutrophil motility An abnormal reduction of the cell motility of neutrophils. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025201 human_phenotype owl:Class HP:0011990 biolink:NamedThing Abnormality of neutrophil physiology A functional abnormality of neutrophils. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023093 peter 2012-07-19T10:56:37Z human_phenotype owl:Class UBERON:0003301 biolink:NamedThing roof plate of diencephalon A roof plate that is part of a diencephalon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl roofplate medulla diencephalon|roof plate diencephalon|roof plate of between brain|between brain roof plate|roof plate of mature diencephalon|roofplate of diencephalon|diencephalon roofplate|roof plate diencephalic region|interbrain roofplate|interbrain roof plate|diencephalon roof plate|between brain roofplate|roofplate of mature diencephalon|mature diencephalon roofplate|roofplate of between brain|roof plate of interbrain|roofplate of interbrain|mature diencephalon roof plate EHDAA:1979|EHDAA2:0000402|VHOG:0000771|ZFA:0001358|EMAPA:16909|EHDAA:3494|EHDAA:2657|TAO:0001358 uberon owl:Class Roof plate that is part of the diencephalon. [Bgee_curator][VHOG] GO:0045296 biolink:NamedThing cadherin binding Binding to cadherin, a type I membrane protein involved in cell adhesion. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class GO:0055081 biolink:NamedThing anion homeostasis Any process involved in the maintenance of an internal steady state of anions within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0050801 biolink:NamedThing ion homeostasis Any process involved in the maintenance of an internal steady state of ions within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl electrolyte homeostasis|regulation of ion homeostasis|negative regulation of crystal formation GO:2000021 biological_process owl:Class UBERON:0003447 biolink:NamedThing digit nerve of manus A nerve that is part of a finger [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nerve of hand digit|nerve of digit of hand|nerve of digit of terminal segment of free upper limb|finger nerve|nerve of finger|nerve of digitus manus|terminal segment of free upper limb digit nerve|digit of hand nerve|digitus manus nerve|digit of terminal segment of free upper limb nerve|hand digit nerve|nerve of terminal segment of free upper limb digit EMAPA:37341|MA:0000625 uberon owl:Class UBERON:0003448 biolink:NamedThing manus nerve A nerve that is part of a manus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hand nerve|nerve of hand|nerve of manus MA:0000629|EMAPA:37340 uberon owl:Class GO:0002720 biolink:NamedThing positive regulation of cytokine production involved in immune response Any process that activates or increases the frequency, rate, or extent of cytokine production that contributes to an immune response. tmpxe7fu0cj_hp_relaxed.owl positive regulation of cytokine production during immune response|activation of cytokine production during immune response|positive regulation of cytokine biosynthetic process involved in immune response|positive regulation of cytokine secretion involved in immune response|stimulation of cytokine production during immune response|up-regulation of cytokine production during immune response|upregulation of cytokine production during immune response|up regulation of cytokine production during immune response GO:0002744|GO:0002741 biological_process owl:Class GO:0002702 biolink:NamedThing positive regulation of production of molecular mediator of immune response Any process that activates or increases the frequency, rate, or extent of the production of molecular mediator of immune response. tmpxe7fu0cj_hp_relaxed.owl activation of production of molecular mediator of immune response|up-regulation of production of molecular mediator of immune response|up regulation of production of molecular mediator of immune response|stimulation of production of molecular mediator of immune response|upregulation of production of molecular mediator of immune response biological_process owl:Class GO:2000264 biolink:NamedThing negative regulation of blood coagulation, extrinsic pathway Any process that stops, prevents or reduces the frequency, rate or extent of blood coagulation, extrinsic pathway. tmpxe7fu0cj_hp_relaxed.owl mah 2010-11-23T11:44:42Z biological_process owl:Class GO:0030195 biolink:NamedThing negative regulation of blood coagulation Any process that stops, prevents, or reduces the frequency, rate or extent of blood coagulation. tmpxe7fu0cj_hp_relaxed.owl downregulation of blood coagulation|down regulation of blood coagulation|inhibition of blood coagulation|down-regulation of blood coagulation biological_process owl:Class GO:0051302 biolink:NamedThing regulation of cell division Any process that modulates the frequency, rate or extent of the physical partitioning and separation of a cell into daughter cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0072330 biolink:NamedThing monocarboxylic acid biosynthetic process The chemical reactions and pathways resulting in the formation of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group. tmpxe7fu0cj_hp_relaxed.owl monocarboxylic acid biosynthesis|monocarboxylic acid formation|monocarboxylic acid anabolism|monocarboxylic acid synthesis mah 2010-11-02T04:51:32Z biological_process owl:Class GO:0032787 biolink:NamedThing monocarboxylic acid metabolic process The chemical reactions and pathways involving monocarboxylic acids, any organic acid containing one carboxyl (COOH) group or anion (COO-). tmpxe7fu0cj_hp_relaxed.owl monocarboxylic acid metabolism|monocarboxylate metabolic process biological_process owl:Class HP:0000992 biolink:NamedThing Cutaneous photosensitivity An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. tmpxe7fu0cj_hp_relaxed.owl Photosensitivity|Photosensitive skin rashes|Sun sensitivity|Skin photosensitivity|Photosensitive skin|Sensitivity to sunlight SNOMEDCT_US:90128006|MSH:D010787|UMLS:C0349506 HP:0007538|HP:0006831|HP:0005594 owl:Class CL:0000642 biolink:NamedThing folliculostellate cell A supportive cell of the vertebrate pituitary that provides macromolecular transport and secretes hormones. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class CL:0000630 biolink:NamedThing supporting cell A cell whose primary function is to support other cell types. tmpxe7fu0cj_hp_relaxed.owl supportive cell BTO:0002315 cell owl:Class HP:0040148 biolink:NamedThing Cortical myoclonus Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic). tmpxe7fu0cj_hp_relaxed.owl UMLS:C3698239|SNOMEDCT_US:698835006 HPO:skoehler owl:Class HP:0001336 biolink:NamedThing Myoclonus Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. tmpxe7fu0cj_hp_relaxed.owl Involuntary jerking movements|Jerking|Myoclonic jerks UMLS:C1854302|MSH:D009207|SNOMEDCT_US:127324008|SNOMEDCT_US:17450006|UMLS:C0027066 Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus). Electrophysiological tests are very helpful in determining whether myoclonus is cortical, subcortical or spinal. HP:0007087|HP:0002535 owl:Class HP:0031061 biolink:NamedThing Impaired toileting ability This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 22:22:26+00:00 peter owl:Class HP:0031058 biolink:NamedThing Impairment of activities of daily living Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 22:14:33+00:00 peter owl:Class HP:0007029 biolink:NamedThing Cerebral berry aneurysm A small, sac-like aneurysm (outpouching) of a cerebral blood vessel. tmpxe7fu0cj_hp_relaxed.owl Cerebral saccular aneurysm SNOMEDCT_US:54002007|UMLS:C2713497|MSH:D000783 Saccular aneurysms are often said to have a berry-shaped appearance, whence the name. human_phenotype owl:Class HP:0004944 biolink:NamedThing Dilatation of the cerebral artery The presence of a localized dilatation or ballooning of a cerebral artery. tmpxe7fu0cj_hp_relaxed.owl Cerebral artery aneurysm|Cerebral aneurysm|Brain aneurysm|Intracranial aneurysm UMLS:C1290398|MSH:D002532|UMLS:C0751003|SNOMEDCT_US:128608001 Aneurysm is considered a severe form of dilatation. HP:0006816|HP:0002618 human_phenotype owl:Class CL:2000073 biolink:NamedThing migratory cardiac neural crest cell Any migratory neural crest cell that is part of a cardiac neural crest. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-11-05T01:18:43Z cell owl:Class CL:0000333 biolink:NamedThing migratory neural crest cell A cell derived from the specialized ectoderm flanking each side of the embryonic neural plate, which after the closure of the neural tube, forms masses of cells that migrate out from the dorsal aspect of the neural tube to spread throughout the body. tmpxe7fu0cj_hp_relaxed.owl FMA:86667 cell owl:Class PR:000001889 biolink:NamedThing CD14 molecule A protein that is a translation product of the human CD14 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl CD14|myeloid cell-specific leucine-rich glycoprotein|monocyte differentiation antigen CD14 PIRSF:PIRSF002017 Category=gene. Requested by=CL. protein owl:Class CL:0000791 biolink:NamedThing mature alpha-beta T cell A alpha-beta T cell that has a mature phenotype. tmpxe7fu0cj_hp_relaxed.owl mature alpha-beta T lymphocyte|mature alpha-beta T-lymphocyte|mature alpha-beta T-cell cell owl:Class HP:0100535 biolink:NamedThing Tibiofibular diastasis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022029 doelkens 2010-12-20T05:53:38Z human_phenotype owl:Class HP:0002991 biolink:NamedThing Abnormality of fibula morphology An anomaly of the calf bone (fibula), one of the two bones of the calf. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the calf bone UMLS:C4025664 human_phenotype owl:Class UBERON:0012483 biolink:NamedThing serosa of cloaca A serous membrane that is part of a cloaca [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl visceral peritoneum of cloaca|cloaca serous membrane|cloaca serosa|cloacal serosa|serous membrane of cloaca uberon owl:Class UBERON:0000042 biolink:NamedThing serous membrane Multi-tissue structure that is comprised of a secretory epithelial layer (mesothelium) and a connective tissue layer. tmpxe7fu0cj_hp_relaxed.owl tunica serosa|wall of serous sac|serosa Wikipedia:Serous_membrane|GAID:19|NCIT:C13169|FMA:9581|UMLS:C0036760|TAO:0005425|SCTID:362878009|ZFA:0005425|MESH:D012704 http://upload.wikimedia.org/wikipedia/commons/4/4e/Ens.png|http://upload.wikimedia.org/wikipedia/en/thumb/4/4e/Ens.png/200px-Ens.png uberon owl:Class a smooth membrane consisting of a thin layer of cells which excrete serous fluid. Serous membranes line and enclose several body cavities, known as serous cavities, where they secrete a lubricating fluid which reduces friction from muscle movement. Serosa is not to be confused with adventitia, a connective tissue layer which binds together structures rather than reducing friction between them. Each serous membrane is composed of a secretory epithelial layer and a connective tissue layer underneath. The epithelial layer, known as mesothelium, consists of a single layer of avascular flat nucleated cells (cuboidal epithelium) which produce the lubricating serous fluid. This fluid has a consistency similar to thin mucus. These cells are bound tightly to the underlying connective tissue. The connective tissue layer provides the blood vessels and nerves for the overlying secretory cells, and also serves as the binding layer which allows the whole serous membrane to adhere to organs and other structures.[WP]|A multi-tissue structure that is comprised of a secretory epithelial layer and a connective tissue layer.[TAO] in FMA, SM = mesothelium + connective tissue. It excludes the cavity. Serous sac = SM + cavity. Note that the SM is a subtype of wall in FMA. HP:0008365 biolink:NamedThing Abnormal talus morphology An abnormality of the talus. tmpxe7fu0cj_hp_relaxed.owl Abnormal large bone of ankle UMLS:C4024688 peter 2008-04-04T11:43:00Z owl:Class HP:0001850 biolink:NamedThing Abnormality of the tarsal bones An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone. tmpxe7fu0cj_hp_relaxed.owl Abnormal tarsals|Abnormal ankle bones UMLS:C1862136 human_phenotype owl:Class HP:0033100 biolink:NamedThing Increased proteinogenic amino acid level in urine An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0030068 biolink:NamedThing Olfactory esthesioneuroblastoma A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:68614005|UMLS:C0206717|SNOMEDCT_US:76060004|SNOMEDCT_US:422886007|MSH:D018304 owl:Class HP:0003006 biolink:NamedThing Neuroblastoma Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. tmpxe7fu0cj_hp_relaxed.owl Cancer of early nerve cells MSH:D009447|SNOMEDCT_US:87364003|NCIT:C3270|UMLS:C0027819|SNOMEDCT_US:432328008 HP:0006738 human_phenotype owl:Class HP:0004247 biolink:NamedThing Small scaphoid Underdevelopment of the scaphoid. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025394 human_phenotype owl:Class HP:0004243 biolink:NamedThing Abnormality of the scaphoid tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025397 human_phenotype owl:Class CHEBI:63470 biolink:NamedThing sulfur-containing amino-acid anion A sulfur-containing amino acid whose alpha-carboxylic acid group is ionized (not protonated). tmpxe7fu0cj_hp_relaxed.owl sulfur-containing amino-acid anions chebi_ontology owl:Class HP:0032802 biolink:NamedThing Focal impaired awareness cognitive seizure with dyscalculia/acalculia A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032756 biolink:NamedThing Focal impaired awareness cognitive seizure A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter HP:0032875|HP:0032931 owl:Class UBERON:0006723 biolink:NamedThing cochlear modiolus The central cone shaped core of spongy bone about which turns the spiral canal. tmpxe7fu0cj_hp_relaxed.owl modiolus of cochlea|cochlea modiolus|modiolus cochleae|modiolus|columella cochleae FMA:61278|BTO:0001693|NCIT:C33135|EMAPA:35575|MA:0001182|UMLS:C0229503 http://upload.wikimedia.org/wikipedia/commons/1/16/Gray921.png uberon owl:Class HP:0040217 biolink:NamedThing Elevated hemoglobin A1c An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements. tmpxe7fu0cj_hp_relaxed.owl Elevated glycated haemoglobin|Elevated haemoglobin A1c|Elevated glycated hemoglobin|Elevated HbA1c|Elevated glycosylated haemoglobin|Increased HbA1c levels|Elevated glycosylated hemoglobin UMLS:C4073162 owl:Class PATO:0002034 biolink:NamedThing undivided A shape quality inhering in a bearer by virtue of the bearer's being unseparated into parts or divisions. tmpxe7fu0cj_hp_relaxed.owl unseparated 2009-01-27T11:53:46Z quality owl:Class PATO:0000052 biolink:NamedThing shape A morphological quality inhering in a bearer by virtue of the bearer's ratios of distances between its features (points, edges, surfaces and also holes etc). tmpxe7fu0cj_hp_relaxed.owl relational shape quality Shapes are invariant on size transformations. Shapes can be subdivided into 2D and 3D shapes, We can also make a distinction between shapes of complete self-connected objects, and shapes of parts of objects. PATO:0001647 quality owl:Class SO:0000704 biolink:NamedThing gene A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. tmpxe7fu0cj_hp_relaxed.owl sequence owl:Class SO:0000110 biolink:NamedThing sequence_feature An extent of biological sequence. tmpxe7fu0cj_hp_relaxed.owl located sequence feature|located_sequence_feature|sequence feature sequence owl:Class HP:0030465 biolink:NamedThing Undetectable light-adapted electroretinogram No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells. tmpxe7fu0cj_hp_relaxed.owl non-detectable photopic ERG|Absent photopic (cone) responses on ERG UMLS:C4072955 owl:Class HP:0008275 biolink:NamedThing Abnormal light-adapted electroretinogram tmpxe7fu0cj_hp_relaxed.owl Abnormal cone-mediated electroretinogram UMLS:C4024712 human_phenotype owl:Class UBERON:0003611 biolink:NamedThing respiratory system elastic tissue An elastic tissue that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl respiratory system elastic connective tissue|textus connectivus elasticus of apparatus respiratorius|textus connectivus elasticus of respiratory system|apparatus respiratorius elastic connective tissue|elastic tissue of apparatus respiratorius|elastic connective tissue of apparatus respiratorius|elastic tissue of respiratory system|apparatus respiratorius textus connectivus elasticus|respiratory system textus connectivus elasticus|elastic connective tissue of respiratory system|apparatus respiratorius elastic tissue EMAPA:37579|MA:0001820 uberon owl:Class UBERON:0003570 biolink:NamedThing respiratory system connective tissue A portion of connective tissue that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl connective tissue of respiratory system|respiratory system textus connectivus|portion of connective tissue of respiratory system|connective tissue of apparatus respiratorius|apparatus respiratorius portion of connective tissue|apparatus respiratorius textus connectivus|textus connectivus of apparatus respiratorius|portion of connective tissue of apparatus respiratorius|textus connectivus of respiratory system|apparatus respiratorius connective tissue|respiratory system portion of connective tissue EMAPA:35968|EMAPA:35977|MA:0001814 uberon owl:Class HP:0031497 biolink:NamedThing Mucinous colorectal carcinoma A subtype of colorectal carcinoma with mucin lakes. tmpxe7fu0cj_hp_relaxed.owl 2017-09-18 00:52:44+00:00 peter owl:Class HP:0031495 biolink:NamedThing Mucinous neoplasm tmpxe7fu0cj_hp_relaxed.owl 2017-09-18 00:48:22+00:00 peter owl:Class HP:0002894 biolink:NamedThing Neoplasm of the pancreas A tumor (abnormal growth of tissue) of the pancreas. tmpxe7fu0cj_hp_relaxed.owl Pancreatic tumor|Neoplasia of the pancreas|Pancreatic tumour|Pancreatic cancer|increased risk of pancreatic cancer|Cancer of the pancreas SNOMEDCT_US:126859007|NCIT:C3262|UMLS:C0346647|MSH:D010190|UMLS:C1842408|UMLS:C0030297|SNOMEDCT_US:363418001 HP:0004511 human_phenotype owl:Class HP:0032481 biolink:NamedThing Abnormal pituitary glycoprotein hormone alpha subunit level Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). tmpxe7fu0cj_hp_relaxed.owl 2019-04-11 11:31:49+00:00 This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. peter owl:Class HP:0003117 biolink:NamedThing Abnormal circulating hormone concentration An abnormal concentration of a hormone in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormality of circulating hormone level|Abnormal circulating hormone level UMLS:C4025652 owl:Class HP:0006336 biolink:NamedThing Short dental root Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length. tmpxe7fu0cj_hp_relaxed.owl Decreased length of dental roots|Dental root hypotrophy|Rhizomicry|Short tooth roots|Short dental roots|Underdeveloped tooth roots|Underdeveloped dental roots|Root dwarfism|Decreased length of tooth roots|Dental root hypoplasia UMLS:C2678330 owl:Class HP:0040220 biolink:NamedThing Abnormal size of the dental root tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280723 owl:Class GO:0005911 biolink:NamedThing cell-cell junction A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. tmpxe7fu0cj_hp_relaxed.owl cell-cell contact region|cell-cell contact zone|intercellular junction https://github.com/geneontology/go-ontology/issues/22122 NIF_Subcellular:sao1922892319 cellular_component owl:Class GO:0070161 biolink:NamedThing anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl anchoring cell junction cellular_component owl:Class HP:0004904 biolink:NamedThing Maturity-onset diabetes of the young The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells. tmpxe7fu0cj_hp_relaxed.owl Maturity onset diabetes of the young|MODY UMLS:C0342276|MSH:C562772|SNOMEDCT_US:609561005 human_phenotype owl:Class HP:0000819 biolink:NamedThing Diabetes mellitus A group of abnormalities characterized by hyperglycemia and glucose intolerance. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0011849|SNOMEDCT_US:73211009|MSH:D003920 HP:0008234|HP:0004908|HP:0008217|HP:0008260 human_phenotype owl:Class HP:0040056 biolink:NamedThing Absent upper eyelashes tmpxe7fu0cj_hp_relaxed.owl Absent upper eyelashes|Failure of development of upper eyelashes|Atrichia of upper eyelashes|Aplasia of upper eyelashes|Agenesis of upper eyelashes UMLS:C4280294|UMLS:C4280255|UMLS:C4022462 HPO:skoehler owl:Class HP:0000561 biolink:NamedThing Absent eyelashes Lack of eyelashes. tmpxe7fu0cj_hp_relaxed.owl Atrichia of eyelashes|Absent eyelashes|Agenesis of eyelashes|Failure of development of eyelashes|Aplasia of eyelashes UMLS:C1843005|UMLS:C4280626|UMLS:C4280627 Often this finding is congenital and associated with alopecia universalis, but this should be coded separately. HP:0004516|HP:0007926|HP:0002288|HP:0004539 human_phenotype owl:Class UBERON:0034730 biolink:NamedThing olfactory tract linking bulb to ipsilateral dorsal telencephalon tmpxe7fu0cj_hp_relaxed.owl lateral olfactory tract|tractus olfactorius lateralis ZFA:0000229|TAO:0000229 uberon owl:Class Telencephalic white matter which extends between the olfactory bulb and the ipsilateral dorsal telencephalon and carries secondary olfactory fibers. From Neuroanatomy of the Zebrafish Brain. UBERON:0002265 biolink:NamedThing olfactory tract White matter tract that contains projections from the olfactory bulb to other parts of the brain. tmpxe7fu0cj_hp_relaxed.owl olfactory stalk|olfactory peduncle|tractus olfactorium|tractus olfactorius|pedunclulus olfactorius http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=283|UMLS:C0162435|BAMS:olf|NCIT:C33207|DHBA:12074|HBA:9302|EMAPA:35615|FMA:77626|DHBA:12073|BTO:0003647|MA:0000975|BIRNLEX:1663 http://upload.wikimedia.org/wikipedia/commons/4/4d/Gray732.png uberon owl:Class White matter tract that contains projections from the olfactory bulb to the olfactory cortex (Maryann Martone)|The olfactory tract is a bundle of axons connecting the mitral and tufted cells of the olfactory bulb to several target regions in the brain, including piriform cortex, amygdala, and entorhinal cortex. It is a narrow white band, triangular on coronal section, the apex being directed upward. It lies in the olfactory sulcus on the inferior surface of the frontal lobe, and divides posteriorly into two striæ, a medial olfactory stria and a lateral olfactory stria.[Wikipedia].|A nervelike, white band composed primarily of nerve fibres originating from the mitral cells and tufted cells of the olfactory bulb but also containing the scattered cells of the anterior olfactory nucleus[BTO:0003647].|Tract of brain which is continuous with olfactory bulb and the cerebral cortex.[FMA] in animals with a long snout, the olfactory tract is long, whereas it is short in short-snouted animals such as primates. In some birds the tract per se does not exist as the bulb is connected directly to the cerebral hemisphere.[ISBN:0471888893] The definition was adapted from the NIFSTD class which has been retired. It has been generalized so it is applicable to various different kinds of olfactory tracts found in different taxa. HP:0003607 biolink:NamedThing 4-hydroxyphenylacetic aciduria Increased concentration of 4-hydroxyphenylacetic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl MSH:C535315|UMLS:C1848680 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria. owl:Class CHEBI:18237 biolink:NamedThing glutamic acid An alpha-amino acid that is glutaric acid bearing a single amino substituent at position 2. tmpxe7fu0cj_hp_relaxed.owl Glu|E|glutamic acid|Glutamic acid|Glutaminsaeure|Glutamate|DL-Glutaminic acid|2-Aminoglutaric acid|Glutaminic acid|DL-Glutamic acid|2-aminopentanedioic acid 0 C5H9NO4 InChI=1S/C5H9NO4/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H,7,8)(H,9,10) WHUUTDBJXJRKMK-UHFFFAOYSA-N 147.12930 147.05316 NC(CCC(O)=O)C(O)=O KNApSAcK:C00001358|PMID:24616376|PMID:15739367|Gmelin:101971|Beilstein:1723799|KNApSAcK:C00019577|KEGG:D04341|KEGG:C00302|CAS:617-65-2|Wikipedia:Glutamic_acid|PMID:17190852|Reaxys:1723799|PMID:24984001 CHEBI:24314|CHEBI:5431 chebi_ontology owl:Class HP:0000246 biolink:NamedThing Sinusitis Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. tmpxe7fu0cj_hp_relaxed.owl Sinus disease|Sinus infection|Sinus inflammation UMLS:C0037199|UMLS:C0030469|MSH:D010254|SNOMEDCT_US:36971009|MSH:D012852|SNOMEDCT_US:7393007 human_phenotype owl:Class HP:0012649 biolink:NamedThing Increased inflammatory response A abnormal increase in the inflammatory response to injury or infection. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022803 peter 2014-02-01T01:29:58Z owl:Class CL:0000513 biolink:NamedThing cardiac muscle myoblast A precursor cell destined to differentiate into cardiac muscle cell. tmpxe7fu0cj_hp_relaxed.owl cardiomyocyte progenitor cell|cardiac muscle progenitor cell FMA:84797 CL:0000714 cell owl:Class CL:0010021 biolink:NamedThing cardiac myoblast tmpxe7fu0cj_hp_relaxed.owl cell owl:Class GO:0050432 biolink:NamedThing catecholamine secretion The regulated release of catecholamines by a cell. The catecholamines are a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0032940 biolink:NamedThing secretion by cell The controlled release of a substance by a cell. tmpxe7fu0cj_hp_relaxed.owl cellular secretion Wikipedia:Secretion biological_process owl:Class HP:0032916 biolink:NamedThing Focal aware verbal automatism seizure A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032910 biolink:NamedThing Focal aware automatism seizure A type of focal automatism seizure during which awareness is fully retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0034764 biolink:NamedThing positive regulation of transmembrane transport Any process that activates or increases the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. tmpxe7fu0cj_hp_relaxed.owl upregulation of transmembrane transport|positive regulation of membrane transport|stimulation of transmembrane transport|up regulation of transmembrane transport|activation of transmembrane transport|up-regulation of transmembrane transport biological_process owl:Class CHEBI:35695 biolink:NamedThing dicarboxylic acid monoanion Any dicarboxylic acid anion that is a monoanion obtained by the deprotonation of only one of the carboxy groups of the dicarboxylic acid. tmpxe7fu0cj_hp_relaxed.owl dicarboxylic acid monoanions chebi_ontology owl:Class CHEBI:35693 biolink:NamedThing dicarboxylic acid anion tmpxe7fu0cj_hp_relaxed.owl dicarboxylic acid anions|dicarboxylic acid anion chebi_ontology owl:Class HP:0033766 biolink:NamedThing Polymelia Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis). tmpxe7fu0cj_hp_relaxed.owl 2021-04-30 11:21:23+00:00 peter owl:Class HP:0007650 biolink:NamedThing Progressive ophthalmoplegia tmpxe7fu0cj_hp_relaxed.owl UMLS:C2062713 human_phenotype owl:Class UBERON:0006136 biolink:NamedThing unmyelinated nerve fiber tmpxe7fu0cj_hp_relaxed.owl non-myelinated nerve fiber GAID:767|SCTID:46920005|FMA:5916|NCIT:C33835|MESH:A08.663.542.756|UMLS:C0501409 uberon owl:Class UBERON:0006134 biolink:NamedThing nerve fiber A threadlike extension of a nerve cell and consists of an axon and myelin sheath (if it is myelinated) in the nervous system. There are nerve fibers in the central nervous system and peripheral nervous system. A nerve fiber may be myelinated and/or unmyelinated. In the central nervous system (CNS), myelin by oligodendroglia cells is formed. Schwann cells form myelin in the peripheral nervous system (PNS). Schwann cells also make a thin covering in an axon without myelin (in the PNS). A peripheral nerve fiber contains an axon, myelin sheath, schwann cells and its endoneurium. There are no endoneurium and schwann cells in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl neurofibra|neurofibrum|nerve fibers|nerve fibre Wikipedia:Nervous_system_fiber|SCTID:88545005|BAMS:nfi|FMA:5914|MESH:A08.663.542 uberon owl:Class neurofibrous UBERON:0013475 biolink:NamedThing gustatory gland A serous salivary gland which resides adjacent to the moats surrounding the circumvallate papillae in the posterior one-third of the tongue, anterior to the terminal sulcus. tmpxe7fu0cj_hp_relaxed.owl posterior deep lingual gland|posterior lingual serous gland|von Ebner's gland|von Ebner gland FMA:293448 uberon owl:Class posterior deep lingual glands produce lingual lipase, which hydrolyzes triacylglycerols in the acidic gastric lumen, the first step in the digestion of dietary fat (Hamosh & Scow, 1973; Hamosh & Burns, 1977). In view of their close proximity to the lingual lymphatic tissues, the glands were also thought to be involved in antimicrobial action and local immune response (Nair & Schroeder, 1983)[PMCID:PMC2667924] a group of tubulo-acinar serous glands located beneath the circumvallate and foliate papillae of the tongue and their ducts open into the trough at the base of the papillae. The saliva from posterior deep lingual glands is known to modulate the microenvironment at taste reception sites, and affect chemoreception (Gurkan & Bradley, 1988) and it is an important source of growth factors for taste receptor cells (Morris-Wiman et al. 2000)[PMCID:PMC2667924] UBERON:0000409 biolink:NamedThing serous gland A gland in which the principal secretory cells are serous secreting cells. tmpxe7fu0cj_hp_relaxed.owl BTO:0001837|FMA:62889|Wikipedia:Serous_gland|EMAPA:37950 http://upload.wikimedia.org/wikipedia/commons/c/c0/Gray1021.png uberon owl:Class glands that secrete watery albuminous material that often contains enzymes[MP:0008052]. HP:0031238 biolink:NamedThing Necklace skeletal muscle fibers A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules. tmpxe7fu0cj_hp_relaxed.owl Necklace skeletal muscle fibres 2017-07-02 20:13:20+00:00 peter owl:Class NBO:0000886 biolink:NamedThing increased amount of liquid in drinking regulation tmpxe7fu0cj_hp_relaxed.owl owl:Class NBO:0000540 biolink:NamedThing drinking behavior phenotype "Observable characteristic of feeding behavior that relates to drinking." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl pathological drinking behaviour|drinking disorder 2011-04-10T10:40:49Z George Gkoutos behavior_ontology owl:Class UBERON:0004233 biolink:NamedThing lower respiratory tract smooth muscle A portion of smooth muscle tissue that is part of a lower respiratory tract [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl non-striated muscle of lower respiratory tract|smooth muscle tissue of lower respiratory tract|lower respiratory tract non-striated muscle|smooth muscle of lower respiratory tract|lower respiratory tract involuntary muscle|lower respiratory tract smooth muscle tissue|involuntary muscle of lower respiratory tract EMAPA:35520|MA:0002410 uberon owl:Class HP:0001786 biolink:NamedThing Narrow foot A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. tmpxe7fu0cj_hp_relaxed.owl Slender feet|Narrow foot SNOMEDCT_US:299464006|UMLS:C0576227 human_phenotype owl:Class HP:0001760 biolink:NamedThing Abnormal foot morphology An abnormality of the skeleton of foot. tmpxe7fu0cj_hp_relaxed.owl Abnormal feet structure|Abnormality of the foot|Abnormality of the feet|Foot deformity|Foot deformities SNOMEDCT_US:229844004|UMLS:C0016506|MSH:D005530 A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. HP:0010611|HP:0010216 owl:Class UBERON:0001819 biolink:NamedThing palpebral fissure Orifice separating upper and lower eyelids. In the human adult this measures about 10mm vertically and 30 mm horizontally. It can be reduced in size in fetal alcohol syndrome. In Trisomy 9 the palpebral fissures can be upslanting. [WP,modified]. tmpxe7fu0cj_hp_relaxed.owl rima palpebrarum FMA:59110|MA:0001266 http://upload.wikimedia.org/wikipedia/commons/a/a9/Gray892.png uberon owl:Class UBERON:0000161 biolink:NamedThing orifice Anatomical conduit that connects two adjacent body spaces (or a body space with the space surrounding the organism)[FMA,modified]. tmpxe7fu0cj_hp_relaxed.owl anatomical orifice|hilum|ostium|anatomical ostium FMA:3724|SCTID:91837002 uberon owl:Class in FMA, this is an anatomical conduit *space*, rather than anatomical conduit GO:0150147 biolink:NamedThing cell-cell junction disassembly The disaggregation of a cell-cell junction into its constituent components. tmpxe7fu0cj_hp_relaxed.owl bc 2019-12-08T11:16:14Z biological_process owl:Class GO:0045216 biolink:NamedThing cell-cell junction organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cell-cell junction. A cell-cell junction is a specialized region of connection between two cells. tmpxe7fu0cj_hp_relaxed.owl cell-cell junction biogenesis|intercellular junction assembly and maintenance|cell-cell junction assembly and maintenance|cell-cell junction organisation biological_process owl:Class HP:0030868 biolink:NamedThing Monorchism Having only one testis in the scrotum. tmpxe7fu0cj_hp_relaxed.owl Monorchidism UMLS:C0266429|SNOMEDCT_US:87310001 owl:Class HP:0012739 biolink:NamedThing Agenesis of the small intestine Failure to develop of the small intestine. tmpxe7fu0cj_hp_relaxed.owl Undeveloped small intestine|Small bowel agenesis UMLS:C4021071 peter 2014-03-23T04:28:53Z human_phenotype owl:Class HP:3000035 biolink:NamedThing Abnormality of cervical plexus Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073243 vasilevs 2015-08-07T00:35:58Z human_phenotype owl:Class HP:0410010 biolink:NamedThing Abnormality of somatic nerve plexus Any abnormality of the somatic nerve plexus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073189 owl:Class HP:0010061 biolink:NamedThing Curved hallux phalanx A deviation from the normal straight form of one or more phalanges of the big toe. tmpxe7fu0cj_hp_relaxed.owl Curve bones of big toe|Curved phalanges of the hallux UMLS:C4021341 doelkens 2009-05-29T12:10:46Z owl:Class CHEBI:131621 biolink:NamedThing C19-steroid A steroid compound with a structure based on a 19-carbon (androstane) skeleton. tmpxe7fu0cj_hp_relaxed.owl C19-steroids chebi_ontology owl:Class CHEBI:35341 biolink:NamedThing steroid Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene which is a triterpene. tmpxe7fu0cj_hp_relaxed.owl steroids|Steroid|a steroid 0 C19H31R 259.450 259.24258 C12C(C3C(C(CC3)*)(C)CC1)CCC4C2(CCCC4)C MetaCyc:Steroids|KEGG:C00377 CHEBI:26768|CHEBI:9263|CHEBI:13687 chebi_ontology owl:Class HP:0010532 biolink:NamedThing Paroxysmal vertigo Paroxysmal episodes of vertigo. tmpxe7fu0cj_hp_relaxed.owl MSH:D014717|UMLS:C0522357|SNOMEDCT_US:103290003 peter 2009-09-20T09:12:15Z human_phenotype owl:Class HP:0002321 biolink:NamedThing Vertigo An abnormal sensation of spinning while the body is actually stationary. tmpxe7fu0cj_hp_relaxed.owl Dizziness|Dizzy spell MSH:D004244|UMLS:C0012833|UMLS:C0042571|SNOMEDCT_US:404640003|MSH:D014717|SNOMEDCT_US:399090003|SNOMEDCT_US:271789005|SNOMEDCT_US:399153001 owl:Class UBERON:0035038 biolink:NamedThing carpal tunnel The fibro-osseous passageway on the palmar side of the wrist that connects the distal forearm to the middle compartment of the deep plane of the palm. tmpxe7fu0cj_hp_relaxed.owl carpel tunnel|carpal canal FMA:42352 uberon owl:Class PATO:0001794 biolink:NamedThing coiling A shape quality inhering in a bearer by virtue of the bearer's being wound in a continuous series of loops. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:0021551 biolink:NamedThing central nervous system morphogenesis The process in which the anatomical structure of the central nervous system is generated and organized. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0003784 biolink:NamedThing Type 1 collagen overmodification tmpxe7fu0cj_hp_relaxed.owl UMLS:C1970463 human_phenotype owl:Class HP:0011862 biolink:NamedThing Abnormal bone collagen fibril morphology Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023158 peter 2012-05-27T01:32:04Z human_phenotype owl:Class UBERON:0004815 biolink:NamedThing lower respiratory tract epithelium An epithelium that is part of a lower respiratory tract [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lower respiratory tract epithelial tissue|epithelial tissue of lower respiratory tract|epithelium of lower respiratory tract MA:0001481|EMAPA:37549 uberon owl:Class HP:0000153 biolink:NamedThing Abnormality of the mouth An abnormality of the mouth. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the mouth|Abnormal mouth MSH:D009056|UMLS:C0026633|SNOMEDCT_US:128334002 human_phenotype owl:Class HP:0000220 biolink:NamedThing Velopharyngeal insufficiency Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. tmpxe7fu0cj_hp_relaxed.owl Velopharyngeal incompetence|Velopharyngeal dysfunction SNOMEDCT_US:229727006|UMLS:C0042454|UMLS:C4280669|MSH:D014681|SNOMEDCT_US:232416001|SNOMEDCT_US:278714002 human_phenotype owl:Class HP:0100736 biolink:NamedThing Abnormal soft palate morphology An abnormality of the soft palate. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the velum|Abnormality of the muscular palate|Abnormality of the soft palate|Abnormality of the velum palatinum UMLS:C4021984 doelkens 2011-06-06T05:41:48Z human_phenotype owl:Class UBERON:0035267 biolink:NamedThing neck of gallbladder The narrowest portion of the gallbladder and distal to the cystic duct. tmpxe7fu0cj_hp_relaxed.owl cervix of gallbladder|gallbladder neck NCIT:C32649|FMA:14538 uberon owl:Class UBERON:0001560 biolink:NamedThing neck of organ tmpxe7fu0cj_hp_relaxed.owl organ neck FMA:45733 uberon owl:Class GO:1903078 biolink:NamedThing positive regulation of protein localization to plasma membrane Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane. tmpxe7fu0cj_hp_relaxed.owl up-regulation of protein localization to plasma membrane|upregulation of protein targeting to plasma membrane|up-regulation of protein localisation in plasma membrane|positive regulation of protein-plasma membrane targeting|up-regulation of protein-plasma membrane targeting|up regulation of protein localisation in plasma membrane|positive regulation of protein localisation in plasma membrane|positive regulation of establishment of protein localization to plasma membrane|up regulation of protein-plasma membrane targeting|activation of protein-plasma membrane targeting|activation of protein localization to plasma membrane|activation of protein targeting to plasma membrane|upregulation of protein localisation in plasma membrane|up-regulation of protein targeting to plasma membrane|up regulation of protein localization to plasma membrane|activation of protein localisation in plasma membrane|up-regulation of protein localization in plasma membrane|upregulation of protein-plasma membrane targeting|positive regulation of protein targeting to plasma membrane|up regulation of protein localization in plasma membrane|up regulation of protein targeting to plasma membrane|positive regulation of protein localization in plasma membrane|positive regulation of establishment of protein localisation in plasma membrane|upregulation of protein localization to plasma membrane|upregulation of protein localization in plasma membrane|activation of protein localization in plasma membrane tb 2009-07-10T10:34:17Z GO:0090004|GO:1905965 biological_process owl:Class UBERON:0006236 biolink:NamedThing tetrapod frontal bone primordium tmpxe7fu0cj_hp_relaxed.owl frontal bone primordium EHDAA:9540|EHDAA2:0000577|FMA:312589|EMAPA:18017 uberon owl:Class HP:0040223 biolink:NamedThing Pulmonary hemorrhage Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease. tmpxe7fu0cj_hp_relaxed.owl Pulmonary haemorrhage|Intrapulmonary haemorrhage|Intrapulmonary hemorrhage UMLS:C4280720 owl:Class HP:0011029 biolink:NamedThing Internal hemorrhage The presence of hemorrhage within the body. tmpxe7fu0cj_hp_relaxed.owl Internal haemorrhage|Internal bleeding UMLS:C1390214 peter 2011-03-03T10:26:26Z human_phenotype owl:Class GO:1901211 biolink:NamedThing negative regulation of cardiac chamber formation Any process that stops, prevents or reduces the frequency, rate or extent of cardiac chamber formation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of heart chamber formation|inhibition of cardiac chamber formation|down regulation of cardiac chamber formation|down regulation of heart chamber formation|inhibition of heart chamber formation|negative regulation of heart chamber formation|down-regulation of cardiac chamber formation|downregulation of heart chamber formation|downregulation of cardiac chamber formation rl 2012-07-31T07:18:57Z biological_process owl:Class GO:0051093 biolink:NamedThing negative regulation of developmental process Any process that stops, prevents or reduces the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpxe7fu0cj_hp_relaxed.owl down-regulation of developmental process|inhibition of developmental process|down regulation of developmental process|downregulation of developmental process biological_process owl:Class HP:0010243 biolink:NamedThing Abnormality of the epiphyses of the distal phalanx of finger Any anomaly of distal epiphysis of phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the outermost bone of finger UMLS:C4023956 doelkens 2009-07-06T04:21:32Z human_phenotype owl:Class GO:0009583 biolink:NamedThing detection of light stimulus The series of events in which a light stimulus (in the form of photons) is received and converted into a molecular signal. tmpxe7fu0cj_hp_relaxed.owl perception of light|detection of light biological_process owl:Class GO:0009582 biolink:NamedThing detection of abiotic stimulus The series of events in which an (non-living) abiotic stimulus is received by a cell and converted into a molecular signal. tmpxe7fu0cj_hp_relaxed.owl perception of abiotic stimulus biological_process owl:Class HP:0006705 biolink:NamedThing Abnormal atrioventricular valve morphology An abnormality of an atrioventricular valve. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the atrioventricular valves UMLS:C4024995 peter 2008-03-29T03:34:00Z HP:0006675 human_phenotype owl:Class HP:0040118 biolink:NamedThing Stenosis of the Eustachian tube tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:80101003|UMLS:C0271469 HPO:skoehler owl:Class HP:0040115 biolink:NamedThing Abnormality of the Eustachian tube tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:204250005|UMLS:C0262475 HPO:skoehler owl:Class HP:0009098 biolink:NamedThing Chronic oral candidiasis Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. tmpxe7fu0cj_hp_relaxed.owl Chronic oral thrush UMLS:C4024599 owl:Class HP:0002728 biolink:NamedThing Chronic mucocutaneous candidiasis Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. tmpxe7fu0cj_hp_relaxed.owl Chronic candidiasis of mucosa, skin and nails|Mucocutaneous candidiasis SNOMEDCT_US:234568006|UMLS:C0006845|MSH:D002178 The most commonly involved Candida species is Candida albicans. Chronic mucocutaneous candidiasis (CMC) is usually confined to the cutaneous surface without systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic feature of several immunologic, endocrinologic, and autoimmune disorders. HP:0005392 human_phenotype owl:Class HP:0100816 biolink:NamedThing Lip hyperpigmentation tmpxe7fu0cj_hp_relaxed.owl Increased pigmentation on the lips|Darkening of skin of the lips|Hyperpigmentation of lip vermillion UMLS:C4021963 doelkens 2011-06-09T02:18:39Z human_phenotype owl:Class UBERON:0003509 biolink:NamedThing arterial blood vessel A blood vessel that is part of the arterial system. Includes artery, arteriole and aorta. tmpxe7fu0cj_hp_relaxed.owl EMAPA:35144|MA:0000061 only in MA - supertype of artery, arteriole, aorta. uberon owl:Class UBERON:0002146 biolink:NamedThing pulmonary valve The semilunar valve of the heart that lies between the right ventricle and the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl valva trunci pulmonalis|pulmonic valve EMAPA:17872|MA:0000089|FMA:7246|MESH:D011664|OpenCyc:Mx4rwP6uq5wpEbGdrcN5Y29ycA|EHDAA:4412|VHOG:0000814|EHDAA2:0001577|NCIT:C12775|GAID:566|galen:PulmonaryValve|UMLS:C0034086 http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg uberon owl:Class The valve with semilunar cusps at the entrance to the pulmonary trunk from the right ventricle of the heart. [TFD][VHOG] PATO:0001624 biolink:NamedThing decreased functionality A functionality quality held by the bearer when the latter exhibits decreased ability to perform a regular function(s). tmpxe7fu0cj_hp_relaxed.owl lacks function of type|impaired|dysfunction|partial functionality|having decreased function|low functionality|dysfunctional PATO:0001641|PATO:0001568|PATO:0001642|PATO:0001556 quality owl:Class GO:0060297 biolink:NamedThing regulation of sarcomere organization Any process that modulates the rate, frequency or extent of myofibril assembly by organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. tmpxe7fu0cj_hp_relaxed.owl regulation of sarcomere organisation biological_process owl:Class GO:0110020 biolink:NamedThing regulation of actomyosin structure organization Any process that modulates the frequency, rate or extent of the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. tmpxe7fu0cj_hp_relaxed.owl kmv 2017-06-20T19:28:58Z biological_process owl:Class UBERON:0014872 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit 2 A distal epiphysis that is part of a distal phalanx of pedal digit 2. tmpxe7fu0cj_hp_relaxed.owl head of distal phalanx of second toe|distal epiphysis of distal phalanx of pedal digit II|distal end of distal phalanx of second toe|ungual tuberosity of distal phalanx of second toe|distal epiphysis of distal phalanx of second toe FMA:33045 uberon owl:Class HP:0011011 biolink:NamedThing Subacute Somewhat rapid onset and change of disease manifestations. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0205365|SNOMEDCT_US:19939008 Subacute is between acute and chronic. peter 2011-02-20T10:27:54Z owl:Class HP:0011008 biolink:NamedThing Temporal pattern The speed at which disease manifestations appear and develop. tmpxe7fu0cj_hp_relaxed.owl Speed of onset UMLS:C4021204 peter 2011-02-20T10:22:32Z owl:Class GO:2001036 biolink:NamedThing negative regulation of tongue muscle cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of tongue muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-08-24T11:10:20Z biological_process owl:Class GO:2001035 biolink:NamedThing regulation of tongue muscle cell differentiation Any process that modulates the frequency, rate or extent of tongue muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-08-24T11:10:16Z biological_process owl:Class CHEBI:28868 biolink:NamedThing fatty acid anion The conjugate base of a fatty acid, arising from deprotonation of the carboxylic acid group of the corresponding fatty acid. tmpxe7fu0cj_hp_relaxed.owl acidos grasos anionicos|anion de l'acide gras|Fatty acid anion|Fettsaeureanion|Fettsaeureanionen|a fatty acid|acido graso anionico|Alkanate|fatty acid anions -1 CO2R 44.00950 43.98983 [O-]C([*])=O PMID:18628202|KEGG:C02403 CHEBI:13634|CHEBI:24022|CHEBI:4985 chebi_ontology owl:Class HP:0002729 biolink:NamedThing Follicular hyperplasia Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4014733 Lymphadenopathy can be defined as enlargement of lymph nodes. It is just a sign accompanying a great variety of entities with multiple etiologies: acute vs. chronic, benign vs. malignant. One of the most commonly seen histological pictures is lymphadenopathy owing to hyperplasia of follicular (germinal centers) but this one is by far not the only one (See Gaddey HL et al. Unexplained Lymphadenopathy: Evaluation and Differential Diagnosis. Am Fam Physician. 2016 1;94:896-903 and Weiss LM. et al. Benign lymphadenopathies. Mod Pathol. 2013;26 Suppl 1:S88-96). human_phenotype owl:Class GO:1900182 biolink:NamedThing positive regulation of protein localization to nucleus Any process that activates or increases the frequency, rate or extent of protein localization to nucleus. tmpxe7fu0cj_hp_relaxed.owl up-regulation of protein localization in nucleus|up-regulation of protein localization in cell nucleus|activation of protein localization in nucleus|activation of protein localization to nucleus|up regulation of protein localization to nucleus|upregulation of protein localization to nucleus|positive regulation of protein localization in nucleus|positive regulation of protein localisation to nucleus|positive regulation of protein localization in cell nucleus|upregulation of protein localization in nucleus|up regulation of protein localisation to nucleus|up regulation of protein localization in cell nucleus|up-regulation of protein localization to nucleus|upregulation of protein localisation to nucleus|activation of protein localization in cell nucleus|up regulation of protein localization in nucleus|up-regulation of protein localisation to nucleus|activation of protein localisation to nucleus|upregulation of protein localization in cell nucleus bf 2012-03-12T01:23:52Z biological_process owl:Class GO:1900180 biolink:NamedThing regulation of protein localization to nucleus Any process that modulates the frequency, rate or extent of protein localization to nucleus. tmpxe7fu0cj_hp_relaxed.owl regulation of protein localization in nucleus|regulation of protein localization in cell nucleus|regulation of protein localisation to nucleus bf 2012-03-12T01:23:44Z biological_process owl:Class HP:0025289 biolink:NamedThing Cervical lymphadenopathy Enlarged lymph nodes in the neck. tmpxe7fu0cj_hp_relaxed.owl Swollen lymph nodes in the neck 2016-12-18 15:40:35+00:00 HPO:probinson owl:Class HP:0100485 biolink:NamedThing Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal tmpxe7fu0cj_hp_relaxed.owl Fused innermost bone of the 4th toe with 4th long bone of foot UMLS:C4022046 human_phenotype owl:Class HP:0100474 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Fused innermost bones of 4th toe UMLS:C4022053 human_phenotype owl:Class GO:0000272 biolink:NamedThing polysaccharide catabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0005976 biolink:NamedThing polysaccharide metabolic process The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. tmpxe7fu0cj_hp_relaxed.owl multicellular organismal polysaccharide metabolic process|glycan metabolism|polysaccharide metabolism|glycan metabolic process GO:0044263 biological_process owl:Class GO:0003707 biolink:NamedThing steroid hormone receptor activity Combining with a steroid hormone and transmitting the signal within the cell to initiate a change in cell activity or function. tmpxe7fu0cj_hp_relaxed.owl Some steroid hormone receptors reside in the plasma membrane and signal through second messengers or other intracellular signal transduction pathways. For steroid hormone receptors that act in the nucleus to regulate transcription, consider also annotating to the terms: nuclear receptor activity ; GO:0004879' or nuclear receptor transcription coactivator activity ; GO:0030374'. molecular_function owl:Class GO:0038023 biolink:NamedThing signaling receptor activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. tmpxe7fu0cj_hp_relaxed.owl receptor activity|receptor activity involved in signal transduction|signalling receptor activity bf 2011-08-01T02:45:27Z GO:0004872|GO:0019041 molecular_function owl:Class GO:0060406 biolink:NamedThing positive regulation of penile erection Any process that increases the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009217 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 4th finger Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the middle bone of the ring finger UMLS:C4024524 doelkens 2009-01-05T05:23:59Z human_phenotype owl:Class HP:0007832 biolink:NamedThing Pigmentation of the sclera tmpxe7fu0cj_hp_relaxed.owl Pigmentation of the outer white part of the eyeball UMLS:C1859882 human_phenotype owl:Class HP:0000591 biolink:NamedThing Abnormal sclera morphology An abnormality of the sclera. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the sclera|Abnormality of the outer white part of eyeball UMLS:C4025840 human_phenotype owl:Class HP:0031866 biolink:NamedThing Clasp-knife sign Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 21:28:20+00:00 peter owl:Class HP:0001257 biolink:NamedThing Spasticity A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. tmpxe7fu0cj_hp_relaxed.owl Muscle spasticity|Muscular spasticity|Involuntary muscle stiffness, contraction, or spasm MSH:D009128|SNOMEDCT_US:221360009|UMLS:C0026838|SNOMEDCT_US:397790002 owl:Class HP:0001654 biolink:NamedThing Abnormal heart valve morphology Any structural abnormality of a cardiac valve. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the heart valves|Valvular abnormality|Valvular heart disease UMLS:C0018824|UMLS:C0241654|MSH:D006349|SNOMEDCT_US:368009 HP:0001703 owl:Class UBERON:0003902 biolink:NamedThing retinal neural layer The part of the retina that contains neurons and photoreceptor cells[GO]. tmpxe7fu0cj_hp_relaxed.owl stratum nervosum retinae|neuroretina|neural retina|neural retinal epithelium|stratum nervosum (retina)|neural layer of retina AAO:0011095|EHDAA:4763|TAO:0000046|FMA:58628|UMLS:C1518263|VHOG:0000535|ZFA:0000046|MA:0000277|EMAPA:18590|NCIT:C33166|XAO:0003216|EHDAA2:0001253|BTO:0000929|CALOHA:TS-0685|EMAPA:17171 uberon owl:Class (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The outer layer of the optic cup becomes the pigment layer of the retina, whereas the inner layer differentiates into the photoreceptive cells and neuronal layers of the retina.[well established][VHOG] GO:2000288 biolink:NamedThing positive regulation of myoblast proliferation Any process that activates or increases the frequency, rate or extent of myoblast proliferation. tmpxe7fu0cj_hp_relaxed.owl rl 2010-12-16T05:20:52Z biological_process owl:Class GO:0051339 biolink:NamedThing regulation of lyase activity Any process that modulates the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring. tmpxe7fu0cj_hp_relaxed.owl lyase regulator biological_process owl:Class HP:0011673 biolink:NamedThing Cardiac hemangioma Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3085|UMLS:C1707298 peter 2012-04-09T12:20:13Z human_phenotype owl:Class HP:0410266 biolink:NamedThing Visceral hemangioma A hemangioma arising from within visceral structures, the internal organs of the body. tmpxe7fu0cj_hp_relaxed.owl 2018-10-30 01:56:12+00:00 owl:Class PATO:0002291 biolink:NamedThing agenesis Absence of a tissue or organ due to failure to develop. tmpxe7fu0cj_hp_relaxed.owl 2011-04-18T05:17:34Z quality owl:Class PATO:0000462 biolink:NamedThing absent A quality denoting the lack of an entity. tmpxe7fu0cj_hp_relaxed.owl absence|absent from organism See documentation here: http://code.google.com/p/phenotype-ontologies/wiki/ModelingOfAbsence PATO:0001996 quality owl:Class HP:0005540 biolink:NamedThing Red blood cell keratocytosis A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns. tmpxe7fu0cj_hp_relaxed.owl RBC keratocytosis|Distorted red blood cells resembling keratocytes UMLS:C4021635 Kerato- is derived from the Greek word for horn. human_phenotype owl:Class HP:0004447 biolink:NamedThing Poikilocytosis The presence of abnormally shaped erythrocytes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0221281|SNOMEDCT_US:165479004 General description for abnormally shaped erythrocytes. peter 2008-03-18T10:06:00Z human_phenotype owl:Class HP:0011922 biolink:NamedThing Abnormal activity of mitochondrial respiratory chain An increased or decreased activity of the mitochondrial respiratory chain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023126 peter 2012-06-08T08:57:44Z human_phenotype owl:Class HP:0003287 biolink:NamedThing Abnormality of mitochondrial metabolism A functional anomaly of mitochondria. tmpxe7fu0cj_hp_relaxed.owl Mitochondrial dysfunction UMLS:C4021734 human_phenotype owl:Class HP:0030190 biolink:NamedThing Oral motor hypotonia Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022592 owl:Class UBERON:0010059 biolink:NamedThing hypoglossal cord tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004610 uberon owl:Class UBERON:0002036 biolink:NamedThing striated muscle tissue Muscle tissue that contains fibers that are divided by transverse bands into striations. tmpxe7fu0cj_hp_relaxed.owl striated muscle Wikipedia:Striated_muscle|UMLS:C1331262|CALOHA:TS-2047|AAO:0010762|NCIT:C12436|EHDAA2:0003140|WBbt:0005779|galen:StriatedMuscle|AEO:0000140|FMA:67905|OpenCyc:Mx4rwAoze5wpEbGdrcN5Y29ycA|EMAPA:36390|MA:0002438 uberon owl:Class Voluntary muscle tissue arranged in bundles of fibers.[AAO] GO:1904115 biolink:NamedThing axon cytoplasm Any cytoplasm that is part of a axon. tmpxe7fu0cj_hp_relaxed.owl axoplasm sl 2015-04-06T18:13:14Z cellular_component owl:Class CHEBI:61355 biolink:NamedThing 3-hydroxy carboxylic acid Any hydroxy carboxylic acid which contains a hydroxy group located beta- to the carboxylic acid group. tmpxe7fu0cj_hp_relaxed.owl 3-hydroxy carboxylic acids|3-hydroxycarboxylic acids|beta-hydroxycarboxylic acid|3-hydroxycarboxylic acid|beta-hydroxy carboxylic acids|beta-hydroxy carboxylic acid|beta-hydroxycarboxylic acids chebi_ontology owl:Class GO:0046676 biolink:NamedThing negative regulation of insulin secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:1903569 biolink:NamedThing positive regulation of protein localization to ciliary membrane Any process that activates or increases the frequency, rate or extent of protein localization to ciliary membrane. tmpxe7fu0cj_hp_relaxed.owl up-regulation of protein localisation to ciliary membrane|positive regulation of protein localisation in ciliary membrane|positive regulation of protein localisation to ciliary membrane|up-regulation of protein localization in ciliary membrane|up-regulation of protein localization to ciliary membrane|upregulation of protein localisation in ciliary membrane|activation of protein localisation to ciliary membrane|up-regulation of protein localisation in ciliary membrane|up regulation of protein localisation in ciliary membrane|upregulation of protein localisation to ciliary membrane|activation of protein localization in ciliary membrane|up regulation of protein localization in ciliary membrane|up regulation of protein localization to ciliary membrane|upregulation of protein localization to ciliary membrane|up regulation of protein localisation to ciliary membrane|activation of protein localization to ciliary membrane|activation of protein localisation in ciliary membrane|positive regulation of protein localization in ciliary membrane|upregulation of protein localization in ciliary membrane krc 2014-10-24T21:33:08Z biological_process owl:Class HP:0010524 biolink:NamedThing Agnosia Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions. tmpxe7fu0cj_hp_relaxed.owl MSH:D000377|UMLS:C0001816|SNOMEDCT_US:42341009 peter 2009-09-20T11:33:03Z human_phenotype owl:Class HP:0011446 biolink:NamedThing Abnormality of higher mental function Cognitive, psychiatric or memory anomaly. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023352 peter 2012-03-18T04:23:59Z owl:Class GO:0007216 biolink:NamedThing G protein-coupled glutamate receptor signaling pathway A series of molecular signals initiated by glutamate binding to a glutamate receptor on the surface of the target cell, and proceeding with the activated receptor promoting the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. Ends with regulation of a downstream cellular process, e.g. transcription. tmpxe7fu0cj_hp_relaxed.owl metabotropic glutamate receptor signalling pathway|G-protein coupled glutamate receptor signaling pathway|metabotropic glutamate receptor signaling pathway biological_process owl:Class GO:0007215 biolink:NamedThing glutamate receptor signaling pathway A series of molecular signals initiated by the binding of glutamate to a glutamate receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. tmpxe7fu0cj_hp_relaxed.owl glutamate signalling pathway|glutamate signaling pathway biological_process owl:Class UBERON:0004807 biolink:NamedThing respiratory system epithelium An epithelium that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of respiratory system|apparatus respiratorius epithelium|epithelium of apparatus respiratorius|epithelial tissue of apparatus respiratorius|apparatus respiratorius epithelial tissue|epithelium of respiratory system|respiratory system epithelial tissue CALOHA:TS-0023|MA:0001823|VHOG:0000981|EMAPA:32826 uberon owl:Class HP:0009184 biolink:NamedThing Contracture of the distal interphalangeal joint of the 5th finger Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024551 peter 2008-12-29T04:16:15Z human_phenotype owl:Class HP:0009697 biolink:NamedThing Contracture of the distal interphalangeal joint of the fingers Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024230 doelkens 2009-01-30T04:01:28Z human_phenotype owl:Class HP:0031402 biolink:NamedThing Reduced antigen-specific T cell proliferation Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus. tmpxe7fu0cj_hp_relaxed.owl Impaired Ag-specific T cell proliferation|Impaired cellular adaptive immune response|Antigen-specific T cell proliferation defect|Impaired activated T cell proliferation 2017-09-03 15:31:43+00:00 peter owl:Class HP:0031379 biolink:NamedThing Abnormal T cell proliferation Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 15:56:23+00:00 peter owl:Class CHEBI:18183 biolink:NamedThing 5-oxo-L-proline An optically active form of 5-oxoproline having L-configuration. tmpxe7fu0cj_hp_relaxed.owl 5-Pyrrolidone-2-carboxylic acid|PYROGLUTAMIC ACID|(2S)-5-oxopyrrolidine-2-carboxylic acid|(S)-(-)-2-pyrrolidone-5-carboxylic acid|(S)-pyroglutamic acid|pidolic acid|Pyroglutamic acid|Pyroglutamate|L-5-Pyrrolidone-2-carboxylic acid|(-)-2-pyrrolidone-5-carboxylic acid|5-oxo-L-proline|5-Oxo-L-proline|L-Pyroglutamic acid 0 C5H7NO3 InChI=1S/C5H7NO3/c7-4-2-1-3(6-4)5(8)9/h3H,1-2H2,(H,6,7)(H,8,9)/t3-/m0/s1 ODHCTXKNWHHXJC-VKHMYHEASA-N 129.11400 129.04259 OC(=O)[C@@H]1CCC(=O)N1 PMID:22560249|HMDB:HMDB0000267|PMID:22619187|Reaxys:82132|MetaCyc:5-OXOPROLINE|Gmelin:1125330|CAS:98-79-3|PMID:17439666|Beilstein:5251861|Beilstein:82132|KNApSAcK:C00007403|YMDB:YMDB00107|KEGG:C01879|Wikipedia:Pyroglutamic_acid|PDBeChem:PCA|DrugBank:DB03088 CHEBI:2113|CHEBI:44704|CHEBI:12153|CHEBI:20619 chebi_ontology owl:Class CHEBI:83822 biolink:NamedThing non-proteinogenic L-alpha-amino acid Any L-alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. tmpxe7fu0cj_hp_relaxed.owl non-proteinogenic L-alpha-amino acids chebi_ontology owl:Class GO:0008585 biolink:NamedThing female gonad development The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl ovary development|ovarian development GO:0061039 biological_process owl:Class GO:0043502 biolink:NamedThing regulation of muscle adaptation Any process that modulates the frequency, rate or extent of muscle adaptation. tmpxe7fu0cj_hp_relaxed.owl regulation of muscle plasticity biological_process owl:Class UBERON:0009566 biolink:NamedThing intestinal submucosa A submucosa that is part of a intestine. tmpxe7fu0cj_hp_relaxed.owl submucosa of intestine FMA:15696 uberon owl:Class UBERON:0018257 biolink:NamedThing submucosa of digestive tract Any portion of submucosa that lines the digestive tract. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0013585 biolink:NamedThing metapodium bone 5 A metapodium bone that is part of a digit 5 plus metapodial segment. tmpxe7fu0cj_hp_relaxed.owl metapodium V|metapodium 5 uberon owl:Class HP:0025593 biolink:NamedThing Superior oblique muscle restriction Mechanical limitation of the range of movement of the superior oblique muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 20:38:29+00:00 In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. HPO:probinson owl:Class HP:0025592 biolink:NamedThing Superior oblique muscle weakness Decreased strength of the superior oblique muscle. tmpxe7fu0cj_hp_relaxed.owl Superior oblique palsy 2018-01-13 20:17:49+00:00 HPO:probinson owl:Class UBERON:0000478 biolink:NamedThing extraembryonic structure A multicellular anatomical structure that is associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis. tmpxe7fu0cj_hp_relaxed.owl extraembryonic structures|extra-embryonic structure|extraembryonic tissue AEO:0000042|CARO:0000042|CALOHA:TS-2119|AAO:0010020|TGMA:0001843|ZFA:0000020|XAO:0004005|EHDAA2:0003042|HAO:0000042|NCIT:C34055|TAO:0000020|FBbt:00005835|UMLS:C1282438|VHOG:0000292|EHDAA:46|BILA:0000042|FMA:85537|SCTID:314908006 see also conceptus extraembryonic component in EHDAA2. uberon owl:Class UBERON:0014796 biolink:NamedThing common tendinous ring A ring of fibrous tissue surrounding the optic nerve at its entrance at the apex of the orbit. tmpxe7fu0cj_hp_relaxed.owl annulus of Zinn|common annular tendon|common anular tendon|annulus tendineus communis|common tendinous ring|anulus tendineus communis|ligament of Zinn|tendon of Zinn|anulus tendineus|anulus of Zinn FMA:49071 uberon owl:Class UBERON:0000481 biolink:NamedThing multi-tissue structure Anatomical structure that has as its parts two or more portions of tissue of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona-fide boundaries from other distinct structural units of different types. tmpxe7fu0cj_hp_relaxed.owl multi-tissue structures VHOG:0001762|TGMA:0001847|HAO:0000055|BILA:0000055|CARO:0000055|EHDAA2:0003055|XAO:0003037|ZFA:0001488|TAO:0001488|AEO:0000055|FBbt:00007010|AAO:0010048 uberon owl:Class CL:2000072 biolink:NamedThing adipose microvascular endothelial cell Any microvascular endothelial cell that is part of a adipose tissue. tmpxe7fu0cj_hp_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7200 TermGenie 2014-10-07T22:13:45Z cell owl:Class CL:0002320 biolink:NamedThing connective tissue cell A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-2096|FMA:63875 tmeehan 2010-09-15T03:01:54Z CL:1000406 cell owl:Class UBERON:0005631 biolink:NamedThing extraembryonic membrane Intrinsic membrane that arises from embryonic germ layers and grow to surround the developing embryo. tmpxe7fu0cj_hp_relaxed.owl FMA:305915|EHDAA2:0004714 uberon https://github.com/obophenotype/uberon/wiki/Modeling-extraembryonic-membranes owl:Class stuctures homologous to the four extraembryonic membranes appear in mammals [ISBN:0073040584 (Vertebrates, Kardong)] EHDAA2 is a mereological sum. UBERON:0000158 biolink:NamedThing membranous layer tmpxe7fu0cj_hp_relaxed.owl membranous organ component|membrane MESH:D008566|NCIT:C12749|FMA:30322|FMA:82500 uberon owl:Class A thin sheet or layer of pliable tissue, serving as a covering or envelope of a part, as the lining of a cavity, as a partition or septum, or to connect two structures. UBERON:0005875 biolink:NamedThing 4th arch pharyngeal cleft A groove that is situated between the 4th and 5th pharyngeal arch. tmpxe7fu0cj_hp_relaxed.owl branchial groove of 4th arch|4th pharyngeal cleft|4th arch pharyngeal groove ectoderm|4th pharyngeal groove ectoderm|4th pharyngeal groove|4th branchial cleft|4th arch branchial groove EMAPA:16762|EHDAA:1665|RETIRED_EHDAA2:0000088|VHOG:0000968|EMAPA:16761|VHOG:0000577|EHDAA2:0000089 uberon owl:Class UBERON:0005879 biolink:NamedThing pharyngeal cleft An external pocketing of pharyngeal ectoderm that contacts a region of endoderm (a pharyngeal pouch) and interdigitates in the anterior and posterior directions by the pharyngeal arches. tmpxe7fu0cj_hp_relaxed.owl gill cleft|branchial cleft|pharyngeal slit|branchial groove|sulcus pharyngei|pharyngeal groove ectoderm|pharyngeal ectodermal cleft|Kiemenspalten|pharyngeal groove UMLS:C1280559|AAO:0010623|NCIT:C34250|EMAPA:32750|FMA:295672 http://upload.wikimedia.org/wikipedia/commons/2/20/Kiemenbogen.jpg Note we use overlaps as the relationship to the arches uberon owl:Class EMAPA distinguishes between the groove ectoderm and epithelium, with the latter arising after the former GO:0048873 biolink:NamedThing homeostasis of number of cells within a tissue Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0048872 biolink:NamedThing homeostasis of number of cells Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. tmpxe7fu0cj_hp_relaxed.owl homeostasis of cell number|cell population homeostasis biological_process owl:Class GO:0030264 biolink:NamedThing nuclear fragmentation involved in apoptotic nuclear change The breakdown of the nucleus into small membrane-bounded compartments, or blebs, each of which contain compacted DNA. tmpxe7fu0cj_hp_relaxed.owl nucleus fragmentation|apoptotic nuclear fragmentation|nuclear fragmentation during apoptosis biological_process owl:Class GO:0071763 biolink:NamedThing nuclear membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear inner or outer membrane. tmpxe7fu0cj_hp_relaxed.owl nuclear membrane organization and biogenesis|nuclear membrane organisation mah 2010-03-29T03:59:35Z biological_process owl:Class GO:0060563 biolink:NamedThing neuroepithelial cell differentiation The process in which epiblast cells acquire specialized features of neuroepithelial cells. tmpxe7fu0cj_hp_relaxed.owl dph 2009-04-29T01:50:05Z biological_process owl:Class CHEBI:37661 biolink:NamedThing glucopyranose tmpxe7fu0cj_hp_relaxed.owl glucopyranose 0 C6H12O6 180.156 180.06339 chebi_ontology owl:Class CHEBI:17234 biolink:NamedThing glucose An aldohexose used as a source of energy and metabolic intermediate. tmpxe7fu0cj_hp_relaxed.owl Glucose|Glukose|DL-glucose|Glc|gluco-hexose|glucose 0 C6H12O6 180.15588 180.06339 Wikipedia:Glucose|CAS:50-99-7|KEGG:C00293 CHEBI:14313|CHEBI:24277|CHEBI:5418|CHEBI:33929 chebi_ontology owl:Class PATO:0002317 biolink:NamedThing parallelogram A convex quadrilateral is a parallelogram if and only if any one of the following statements are true: 1. Each diagonal divides the quadrilateral into two congruent triangles with the same orientation. 2. The opposite sides are congruent in pairs. 3. The diagonals bisect each other. 4. The opposite angles are congruent in pairs. 5. The sum of the squares of the sides equals the sum of the squares of the diagonals. (This is the parallelogram law) 6.It possesses rotational symmetry. 7.One pair of opposite sides are parallel and congruent. 8.Two pairs of adjacent angles are supplementary. tmpxe7fu0cj_hp_relaxed.owl 2011-10-12T12:33:07Z quality owl:Class PATO:0001988 biolink:NamedThing quadrangular A shape quality inhering in a bearer by virtue of the bearer's having four angles and four sides. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0100224 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the innermost bone of the little toe|Absent end part of the innermost bone of the pinkie toe|Absent end part of the innermost bone of the pinky toe UMLS:C4022197 doelkens 2010-06-24T05:04:53Z human_phenotype owl:Class HP:0100077 biolink:NamedThing Absent epiphyses of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the pinkie toe bone|Absent end part of the pinky toe bone|Absent end part of the little toe bone UMLS:C4022344 doelkens 2010-06-24T10:00:02Z human_phenotype owl:Class CHEBI:27369 biolink:NamedThing zwitterion A neutral compound having formal unit electrical charges of opposite sign on non-adjacent atoms. Sometimes referred to as inner salts, dipolar ions (a misnomer). tmpxe7fu0cj_hp_relaxed.owl zwitterions|compuestos zwitterionicos|zwitterion|zwitteriones|compose zwitterionique|zwitterionic compounds chebi_ontology owl:Class UBERON:0011777 biolink:NamedThing nucleus of spinal cord A neural nucleus that is part of the spinal cord. tmpxe7fu0cj_hp_relaxed.owl spinal cord nucleus FMA:77011 uberon owl:Class UBERON:0008947 biolink:NamedThing respiratory primordium tmpxe7fu0cj_hp_relaxed.owl NCIT:C34283|EHDAA2:0004069|UMLS:C1514898 uberon owl:Class HP:0003938 biolink:NamedThing Synostosis involving the elbow tmpxe7fu0cj_hp_relaxed.owl Bone fusion involving the elbow UMLS:C4025494 human_phenotype owl:Class HP:0009811 biolink:NamedThing Abnormality of the elbow An anomaly of the joint that connects the upper and the lower arm. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the elbows|Abnormality of the elbow UMLS:C4021386 doelkens 2009-02-23T04:59:43Z HP:0002966 human_phenotype owl:Class GO:1905941 biolink:NamedThing positive regulation of gonad development Any process that activates or increases the frequency, rate or extent of gonad development. tmpxe7fu0cj_hp_relaxed.owl activation of gonad development|upregulation of gonad development|activation of gonadogenesis|positive regulation of gonadogenesis|up-regulation of gonad development|up regulation of gonadogenesis|up regulation of gonad development|up-regulation of gonadogenesis|upregulation of gonadogenesis hbye 2017-02-09T17:02:08Z biological_process owl:Class GO:2000669 biolink:NamedThing negative regulation of dendritic cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of dendritic cell apoptosis pr 2011-05-09T07:34:21Z biological_process owl:Class HP:0011374 biolink:NamedThing Incomplete partition of the cochlea type I Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023391 peter 2012-03-07T08:26:25Z human_phenotype owl:Class HP:0011373 biolink:NamedThing Incomplete partition of the cochlea Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023392 peter 2012-03-07T08:24:55Z human_phenotype owl:Class HP:0030639 biolink:NamedThing Congenital stationary night blindness with abnormal fundus tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073106 owl:Class HP:0007642 biolink:NamedThing Congenital stationary night blindness A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset. tmpxe7fu0cj_hp_relaxed.owl Night blindness, congenital stationary|Night blindness since birth|Night blindness, stationary|Static congenital hemeralopia|Night blindness, congenital stationary, complete|Night blindness, congenital|Congenital night blindness UMLS:C1306122|SNOMEDCT_US:232061009|UMLS:C4048798|SNOMEDCT_US:193687000|MSH:C537743|UMLS:C0339535|UMLS:C3551052|MSH:C536122 Congenital stationary night blindness is prinicipally the result of dysfunction of the rod photoreceptors. HP:0007684|HP:0007861|HP:0007953 human_phenotype owl:Class GO:0010935 biolink:NamedThing regulation of macrophage cytokine production Any process that modulates the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0002718 biolink:NamedThing regulation of cytokine production involved in immune response Any process that modulates the frequency, rate, or extent of cytokine production that contributes to an immune response. tmpxe7fu0cj_hp_relaxed.owl regulation of cytokine secretion involved in immune response|regulation of cytokine biosynthetic process involved in immune response|regulation of cytokine production during immune response GO:0002742|GO:0002739 biological_process owl:Class UBERON:0001798 biolink:NamedThing vitreous body Gelatinous mucoid tissue that is composed of vitreous humor and fills the cavity behind the crystalline lens of the eye and in front of the retina[MP,modified]. tmpxe7fu0cj_hp_relaxed.owl FMA:58827|UMLS:C0042905|NCIT:C33884|GAID:919|MESH:A09.371.943|MA:0002462|CALOHA:TS-0308 http://upload.wikimedia.org/wikipedia/commons/1/1e/Schematic_diagram_of_the_human_eye_en.svg distinciton between body and humor requires more work. These may be merged in future. Note that FMA includes the hyaloid canal as part of the vitreous body uberon owl:Class HP:0000680 biolink:NamedThing Delayed eruption of primary teeth Delayed tooth eruption affecting the primary dentition. tmpxe7fu0cj_hp_relaxed.owl Delayed eruption of baby teeth|Late eruption of baby teeth|Delayed eruption of milk teeth|Delayed primary teeth eruption|Late eruption of milk teeth|Late eruption of primary teeth|Delayed eruption of deciduous teeth UMLS:C1849538 owl:Class HP:0006481 biolink:NamedThing Abnormality of primary teeth Any abnormality of the primary tooth. tmpxe7fu0cj_hp_relaxed.owl Abnormality of milk teeth|Abnormality of baby teeth|Abnormality of deciduous teeth UMLS:C4021596 Primary teeth are also called temporary teeth or deciduous teeth. peter 2008-03-28T05:40:00Z human_phenotype owl:Class HP:0031811 biolink:NamedThing Bilirubinuria Presence of conjugated bilirubin in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-04-28 14:54:05+00:00 Bilirubinuria may lead to a dark yellow to orange color of the urine. Conjugated bilirubin is excreted in the urine and thus conjugated hyperbilirubinemia may lead to bilirubinuria. peter owl:Class HP:0033354 biolink:NamedThing Abnormal urine metabolite level Any deviation from the normal amount of a metabolite in urine. tmpxe7fu0cj_hp_relaxed.owl 2020-12-01 12:00:51+00:00 As water reabsorption in kidneys affect urinary solute concentrations, various methods are applied to normalize the measured concentration. Frequently, concentrations are reported as a ratio to urinary creatinine. The HPO terms in this subhierarchy therefore use the word 'level' to indicate that appropriate normalization has been performed before concluding that the amount of the indicated metabolite is abnormal. peter owl:Class UBERON:0017271 biolink:NamedThing upper primary premolar tooth tmpxe7fu0cj_hp_relaxed.owl maxillary primary premolar tooth|upper deciduous premolar tooth uberon owl:Class UBERON:0007120 biolink:NamedThing premolar tooth The premolar teeth or bicuspids are transitional teeth located between the canine and molar teeth. tmpxe7fu0cj_hp_relaxed.owl præmolares|praemolares|premolar|bicuspid tooth|secondary premolar tooth|premolar teeth|premolar tooth|mandibular bicuspid|premolars|dentes premolares|bicuspid|maxillary bicuspid|bicuspid teeth|biscuspid|maxillary premolar|pm3 (dentistry)|dens premolaris|bicuspids GAID:1261|MESH:A14.254.860.150|FMA:55637|NCIT:C32201|UMLS:C1704302 http://upload.wikimedia.org/wikipedia/commons/6/6c/Gray1003.png uberon owl:Class In humans, there are two premolars per quadrant, making eight premolars total in the mouth. They have at least two cusps. Premolars can be considered as a 'transitional tooth' during chewing, or mastication. It has properties of both the anterior canines and posterior molars, and so food can be transferred from the canines to the premolars and finally to the molars for grinding, instead of directly from the canines to the molars. The premolars in humans are the maxillary first premolar, maxillary second premolar, mandibular first premolar, and the mandibular second premolar. There is always one large buccal cusp, especially so in the mandibular first premolar. The lower second premolar almost always presents with two lingual cusps. Premolar teeth by definition are permanent teeth distal to the canines preceded by deciduous molars. In primitive mammals there are four premolars per quadrant. The most mesial two have been lost in Catarrhines. Paleontologists refer to human premolars as Pm3 and Pm4 GO:0008202 biolink:NamedThing steroid metabolic process The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpxe7fu0cj_hp_relaxed.owl steroid metabolism Wikipedia:Steroid_metabolism biological_process owl:Class GO:0006629 biolink:NamedThing lipid metabolic process The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. tmpxe7fu0cj_hp_relaxed.owl lipid metabolism Wikipedia:Lipid_metabolism biological_process owl:Class GO:0035736 biolink:NamedThing cell proliferation involved in compound eye morphogenesis The multiplication or reproduction of cells, resulting in the expansion of a cell population that contributes to compound eye morphogenesis. tmpxe7fu0cj_hp_relaxed.owl bf 2011-03-17T10:57:03Z biological_process owl:Class UBERON:0000477 biolink:NamedThing anatomical cluster Anatomical group that has its parts adjacent to one another. tmpxe7fu0cj_hp_relaxed.owl TGMA:0001842|XAO:0003160|VHOG:0001737|ZFA:0001478|TADS:0000605|BILA:0000041|CARO:0000041|TAO:0001478|HAO:0000041|FMA:49443|AEO:0000041|FBbt:00007277|AAO:0010009|EHDAA2:0003041 Will be obsoleted in CARO v2 [https://github.com/obophenotype/caro/issues/3] uberon owl:Class HP:0030323 biolink:NamedThing Unilateral vertebral artery hypoplasia Underdevelopment of the vertebral artery on one side. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3279090 owl:Class HP:0030322 biolink:NamedThing Vertebral artery hypoplasia Underdevelopment of the vertebral artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1868737 owl:Class UBERON:0009916 biolink:NamedThing wall of ureter An anatomical wall that is part of a ureter. tmpxe7fu0cj_hp_relaxed.owl ureteral wall FMA:15888 uberon owl:Class GO:0003300 biolink:NamedThing cardiac muscle hypertrophy The enlargement or overgrowth of all or part of the heart muscle due to an increase in size of cardiac muscle cells without cell division. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-22T10:33:56Z biological_process owl:Class UBERON:0015069 biolink:NamedThing distal carpal cartilage element A distal carpal endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0015068 biolink:NamedThing distal carpal endochondral element A distal mesopodial endochondral element that is part of a forelimb. tmpxe7fu0cj_hp_relaxed.owl distal carpal uberon owl:Class HP:0011755 biolink:NamedThing Ectopic posterior pituitary An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis. tmpxe7fu0cj_hp_relaxed.owl Ectopic neurohypophysis UMLS:C3279571|UMLS:C4053775|SNOMEDCT_US:715727009 peter 2012-04-22T01:43:25Z human_phenotype owl:Class HP:0011753 biolink:NamedThing Posterior pituitary dysgenesis Abnormal development of the neurohypophysis during embryonic growth and development. tmpxe7fu0cj_hp_relaxed.owl Neurohypophysis dysplasia|Posterior pituitary dysplasia UMLS:C4021123 peter 2012-04-22T01:42:04Z human_phenotype owl:Class HP:0003491 biolink:NamedThing Elevated urine pyrophosphate An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025607 owl:Class CHEBI:16827 biolink:NamedThing corticosterone A 21-hydroxy steroid that consists of pregn-4-ene substituted by hydroxy groups at positions 11 and 21 and oxo groups at positions 3 and 20. Corticosterone is a 21-carbon steroid hormone of the corticosteroid type produced in the cortex of the adrenal glands. tmpxe7fu0cj_hp_relaxed.owl 11beta,21-Dihydroxy-4-pregnene-3,20-dione|corticosterone|CORTICOSTERONE|Reichstein's substance H|11beta,21-dihydroxypregn-4-ene-3,20-dione|(11beta)-11,21-dihydroxypregn-4-ene-3,20-dione|17-deoxycortisol|Kendall's compound B|Corticosterone|11beta,21-dihydroxyprogesterone 0 C21H30O4 InChI=1S/C21H30O4/c1-20-8-7-13(23)9-12(20)3-4-14-15-5-6-16(18(25)11-22)21(15,2)10-17(24)19(14)20/h9,14-17,19,22,24H,3-8,10-11H2,1-2H3/t14-,15-,16+,17-,19+,20-,21-/m0/s1 OMFXVFTZEKFJBZ-HJTSIMOOSA-N 346.46050 346.21441 [H][C@@]1(CC[C@@]2([H])[C@]3([H])CCC4=CC(=O)CC[C@]4(C)[C@@]3([H])[C@@H](O)C[C@]12C)C(=O)CO LIPID_MAPS_instance:LMST02030186|PMID:24446162|PMID:16817814|Beilstein:2339601|PMID:11448093|PDBeChem:C0R|LINCS:LSM-5814|Wikipedia:Corticosterone|KEGG:C02140|MetaCyc:CORTICOSTERONE|CAS:50-22-6|HMDB:HMDB0001547|PMID:10438974 CHEBI:19131|CHEBI:41361|CHEBI:3891|CHEBI:57911|CHEBI:14022 chebi_ontology owl:Class CHEBI:47909 biolink:NamedThing 3-oxo-Delta(4) steroid A 3-oxo steroid conjugated to a C=C double bond at the alpha,beta position. tmpxe7fu0cj_hp_relaxed.owl 3-oxo Delta(4)-steroids|3-Oxo-delta4-steroid|3-oxo-Delta(4) steroids|a 3-oxo-Delta(4)-steroid|3-oxo Delta(4)-steroid 0 C19H27OR 271.418 271.20619 C12C(C3C(C(CC3)*)(C)CC1)CCC=4C2(CCC(C4)=O)C MetaCyc:3-Oxo-Delta-4-Steroids|KEGG:C00619 CHEBI:13604|CHEBI:1626|CHEBI:20157 chebi_ontology owl:Class GO:0086015 biolink:NamedThing SA node cell action potential An action potential that occurs in a sinoatrial node cardiac muscle cell. tmpxe7fu0cj_hp_relaxed.owl SAN cardiac muscle cell action potential|sinus node cardiac muscle cell action potential|SA node cardiac muscle cell action potential|sinoatrial node cardiac muscle cell action potential tb 2011-11-10T08:50:15Z biological_process owl:Class GO:0086001 biolink:NamedThing cardiac muscle cell action potential An action potential that occurs in a cardiac muscle cell. tmpxe7fu0cj_hp_relaxed.owl tb 2011-11-10T07:45:11Z biological_process owl:Class UBERON:0003083 biolink:NamedThing trunk neural crest Trunk portion of the neural crest. The trunk neural crest lies between the vagal and sacral neural crest and gives rise to two groups of cells. One group migrates dorsolateral and populates the skin, forming pigment cells and the other migrates ventrolateral through the anterior sclerotome to become the epinephrine-producing cells of the adrenal gland and the neurons of the sympathetic nervous system. Some cells remain in the sclerotome to form the dorsal root ganglia [Wikipedia]. tmpxe7fu0cj_hp_relaxed.owl trunk crest|TNC EFO:0003605|EHDAA2:0001901|AAO:0010582|VHOG:0000062|ZFA:0001024|XAO:0000319|TAO:0001024|Wikipedia:Trunk_neural_crest uberon owl:Class Post-cranial portion of the neural crest. Exact anatomical derivations not experimentally resolved in amphibians.[AAO] We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] UBERON:0005110 biolink:NamedThing metanephric nephron A metanephric nephron is the functional unit of the metanephros[GO]. tmpxe7fu0cj_hp_relaxed.owl VHOG:0000719 UBERON:0005142 uberon owl:Class The primitive form of the vertebrate nephron consists of a vascular filtration surface overlain with podocytes, a specialized coelomic cavity to receive the ultrafiltrate, and a tubule for modification to final urine. Although previously thought to be unique to the vertebrates, this design is now known to be widespread among invertebrates, including most of the protochordates, and especially their larvae.[well established][VHOG] GO:0120033 biolink:NamedThing negative regulation of plasma membrane bounded cell projection assembly Any process that stops, prevents or reduces the frequency, rate or extent of plasma membrane bounded cell projection assembly. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/13298 krc 2017-04-26T04:34:31Z biological_process owl:Class HP:0200022 biolink:NamedThing Choroid plexus papilloma Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus. tmpxe7fu0cj_hp_relaxed.owl MSH:D020288|UMLS:C0205770|SNOMEDCT_US:18021007|NCIT:C3698 sebastiankohler 2010-06-16T04:01:24Z human_phenotype owl:Class HP:0012740 biolink:NamedThing Papilloma A tumor of the skin or mucous membrane with finger-like projections. tmpxe7fu0cj_hp_relaxed.owl MSH:D010212|SNOMEDCT_US:711329002|SNOMEDCT_US:23730008|UMLS:C0030354 The vast majority of papillomas are benign. Papillomas on the skin (cutaneous papillomas) are commonly referred to as warts. peter 2014-03-23T04:36:41Z human_phenotype owl:Class UBERON:0007267 biolink:NamedThing trachea pre-cartilage rings A pre-cartilage condensation that is part of a trachea. tmpxe7fu0cj_hp_relaxed.owl EHDAA:7082|EHDAA2:0002070 uberon owl:Class UBERON:0000395 biolink:NamedThing cochlear ganglion The group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)[MP]. distributed to the hair cells of the spiral organ. The cochlear fibers arise in bipolar cells in the spiral ganglion in the modiolus. tmpxe7fu0cj_hp_relaxed.owl ganglion spirale|spiral ganglion|vestibulocochlear ganglion cochlear component|spiral ganglion of cochlea|vestibulocochlear VIII ganglion cochlear component|ganglion of Corti|ganglion spirale cochleae|Corti's ganglion|cochlear part of vestibulocochlear ganglion|ganglion cochlearis FMA:53445|BAMS:GcVIII|EMAPA:17572|GAID:722|MESH:D013136|VHOG:0001183|BTO:0001688|MA:0001085|EHDAA2:0002198 http://upload.wikimedia.org/wikipedia/commons/b/b1/Gray903.png in BTO this is part of the cochlear modiolus, but this leads to the CG being in both the nervous and skeletal systems uberon owl:Class UBERON:0001714 biolink:NamedThing cranial ganglion The groups of nerve cell bodies associated with the twelve cranial nerves. tmpxe7fu0cj_hp_relaxed.owl ganglion of cranial neural tree organ|cranial ganglion part of peripheral nervous system|presumptive cranial ganglia|cranial ganglion|cranial neural ganglion|ganglion of cranial nerve|cranial ganglia|cranial ganglion/nerve|cranial nerve ganglion|head ganglion|cranial neural tree organ ganglion FMA:54502|EMAPA:16659|MAT:0000200|Wikipedia:Cranial_nerve_ganglion|MA:0000213|EFO:0000902|XAO:0000027|SCTID:244448001|BIRNLEX:2597|TAO:0000013|VHOG:0000076|BTO:0000106|ZFA:0000013|MA:0000214|MIAA:0000200 UBERON:0003213|UBERON:0026601 uberon owl:Class Ganglion which is located in the head.[TAO] HP:0000987 biolink:NamedThing Atypical scarring of skin Atypically scarred skin . tmpxe7fu0cj_hp_relaxed.owl Atypical scarring|Atypical scarring of skin UMLS:C4021786 human_phenotype owl:Class GO:0043068 biolink:NamedThing positive regulation of programmed cell death Any process that activates or increases the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. tmpxe7fu0cj_hp_relaxed.owl positive regulation of non-apoptotic programmed cell death|upregulation of programmed cell death|stimulation of programmed cell death|activation of programmed cell death|up regulation of programmed cell death|up-regulation of programmed cell death GO:0043071 biological_process owl:Class GO:0010942 biolink:NamedThing positive regulation of cell death Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0013749 biolink:NamedThing metaphysis of humerus A metaphysis that is part of a metaphysis. tmpxe7fu0cj_hp_relaxed.owl humeral metaphysis|diaphyseal end of humerus FMA:32830 uberon owl:Class GO:0019098 biolink:NamedThing reproductive behavior The specific behavior of an organism that is associated with reproduction. tmpxe7fu0cj_hp_relaxed.owl reproductive behaviour|single-organism reproductive behavior|reproductive behavior in a multicellular organism|multi-organism reproductive behavior|multicellular organism reproductive behavior jl 2012-09-19T16:01:37Z GO:0033057|GO:0044705|GO:0044704 biological_process owl:Class GO:0048609 biolink:NamedThing multicellular organismal reproductive process The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs. tmpxe7fu0cj_hp_relaxed.owl organismal reproductive process|reproductive process in a multicellular organism biological_process owl:Class HP:0007063 biolink:NamedThing Aplasia of the inferior half of the cerebellar vermis tmpxe7fu0cj_hp_relaxed.owl Absent inferior half of the cerebellar vermis UMLS:C1857787 human_phenotype owl:Class UBERON:0002305 biolink:NamedThing layer of hippocampus The layers of the laminar structure of the hippocampus. tmpxe7fu0cj_hp_relaxed.owl hippocampus layer|cytoarchitectural fields of hippocampal formation|hippocampus proper layer|layer of cornu ammonis FMA:83679|EMAPA:35407|MA:0002427|FMA:277842|BIRNLEX:1192 TODO - check NIF xref uberon owl:Class UBERON:0016548 biolink:NamedThing central nervous system gray matter layer A layer of of the central nervous system that is part of gray matter. tmpxe7fu0cj_hp_relaxed.owl grey matter layer|CNS gray matter layer|CNS grey matter layer|gray matter layer of neuraxis|grey matter layer of neuraxis FMA:83142 uberon owl:Class UBERON:0006955 biolink:NamedThing uterine epithelium An epithelium that is part of a uterus. tmpxe7fu0cj_hp_relaxed.owl uterus epithelium BTO:0003082 uberon owl:Class HP:0011796 biolink:NamedThing Perilobar nephroblastomatosis Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). tmpxe7fu0cj_hp_relaxed.owl UMLS:C1319017|SNOMEDCT_US:405935000 peter 2012-04-22T07:50:25Z human_phenotype owl:Class HP:0008643 biolink:NamedThing Nephroblastomatosis Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2675558 human_phenotype owl:Class GO:1905606 biolink:NamedThing regulation of presynapse assembly Any process that modulates the frequency, rate or extent of presynapse assembly. tmpxe7fu0cj_hp_relaxed.owl regulation of presynapse biogenesis|regulation of presynaptic terminal assembly bc 2016-10-27T16:08:13Z biological_process owl:Class HP:0002689 biolink:NamedThing Absent paranasal sinuses Aplasia of the paranasal sinuses. tmpxe7fu0cj_hp_relaxed.owl Missing paranasal sinuses|Aplasia of paranasal sinuses|Missing sinuses|Absence of paranasal sinuses UMLS:C3804986|UMLS:C4072844|UMLS:C1857131 human_phenotype owl:Class HP:0005453 biolink:NamedThing Absent/hypoplastic paranasal sinuses Aplasia or hypoplasia of the paranasal sinuses. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856639 human_phenotype owl:Class HP:0500165 biolink:NamedThing Abnormal blood oxygen level An abnormality of the partial pressure of oxygen in the arterial blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal blood O2 level|Abnromal O2 blood concentration|Abnormal blood oxygen levels 2018-10-17 15:14:35+00:00 owl:Class GO:0043242 biolink:NamedThing negative regulation of protein-containing complex disassembly Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. tmpxe7fu0cj_hp_relaxed.owl negative regulation of protein complex disassembly|inhibition of protein complex disassembly|down-regulation of protein complex disassembly|down regulation of protein complex disassembly|downregulation of protein complex disassembly biological_process owl:Class GO:0051129 biolink:NamedThing negative regulation of cellular component organization Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpxe7fu0cj_hp_relaxed.owl downregulation of cell organization|negative regulation of cellular component organization and biogenesis|down regulation of cell organization|inhibition of cell organization|negative regulation of cell organisation|down-regulation of cell organization biological_process owl:Class UBERON:0007774 biolink:NamedThing secondary dentition The teeth of adulthood that either replace or are added to the complement of deciduous teeth. (Boucher's Clinical Dental Terminology, 4th ed). tmpxe7fu0cj_hp_relaxed.owl adult dentition|set of permanent teeth|permanent dentition|permanent teeth|secondary dentition|set of secondary teeth|dentes permanentes GAID:1251|FMA:75152|MESH:A14.254.237 uberon owl:Class GO:1905627 biolink:NamedThing regulation of serotonin biosynthetic process Any process that modulates the frequency, rate or extent of serotonin biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl regulation of serotonin synthesis|regulation of serotonin biosynthesis|regulation of serotonin anabolism|regulation of serotonin formation pad 2016-10-31T14:26:20Z biological_process owl:Class UBERON:0010982 biolink:NamedThing latissimus dorsi pre-muscle mass tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000933 uberon owl:Class GO:1901402 biolink:NamedThing negative regulation of tetrapyrrole metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of tetrapyrrole metabolic process. tmpxe7fu0cj_hp_relaxed.owl down regulation of tetrapyrrole metabolism|down regulation of tetrapyrrole metabolic process|negative regulation of tetrapyrrole metabolism|downregulation of tetrapyrrole metabolism|inhibition of tetrapyrrole metabolism|down-regulation of tetrapyrrole metabolic process|downregulation of tetrapyrrole metabolic process|down-regulation of tetrapyrrole metabolism|inhibition of tetrapyrrole metabolic process tt 2012-10-01T14:35:11Z biological_process owl:Class CHEBI:32679 biolink:NamedThing glutaminium An alpha-amino-acid cation that is the conjugate acid of glutamine, arising from protonation of the amino group. tmpxe7fu0cj_hp_relaxed.owl H2gln(+)|glutaminium|4-amino-1-carboxy-4-oxobutan-1-aminium|glutamine cation +1 C5H11N2O3 InChI=1S/C5H10N2O3/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H2,7,8)(H,9,10)/p+1 ZDXPYRJPNDTMRX-UHFFFAOYSA-O 147.15252 147.07642 NC(=O)CCC([NH3+])C(O)=O chebi_ontology owl:Class HP:0100678 biolink:NamedThing Premature skin wrinkling The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. tmpxe7fu0cj_hp_relaxed.owl Premature skin wrinkling|Wrinkled skin MEDDRA:10040954|UMLS:C0037301|MSH:D015595|SNOMEDCT_US:247434009 doelkens 2010-12-30T01:43:36Z HP:0200074 human_phenotype owl:Class HP:0005220 biolink:NamedThing Multiple intestinal neurofibromatosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025233 human_phenotype owl:Class HP:0007378 biolink:NamedThing Neoplasm of the gastrointestinal tract A tumor (abnormal growth of tissue) of the gastrointestinal tract. tmpxe7fu0cj_hp_relaxed.owl Gastrointestinal tract neoplasm|GI tract tumor|GI tract tumour|Gastrointestinal tract neoplasia|Gastrointestinal tract tumor|Gastrointestinal tract tumour|Neoplasm of the GI tract MSH:D005770|SNOMEDCT_US:126768004|UMLS:C0017185|NCIT:C3262 peter 2008-04-01T11:55:00Z human_phenotype owl:Class CHEBI:25017 biolink:NamedThing leucine A branched-chain amino acid that consists of glycine in which one of the hydrogens attached to the alpha-carbon is substituted by an isobutyl group. tmpxe7fu0cj_hp_relaxed.owl Leuzin|(+-)-Leucine|L|Hleu|Leu|(RS)-Leucine|2-amino-4-methylpentanoic acid|leucine|Leucin|DL-Leucine 0 C6H13NO2 InChI=1S/C6H13NO2/c1-4(2)3-5(7)6(8)9/h4-5H,3,7H2,1-2H3,(H,8,9) ROHFNLRQFUQHCH-UHFFFAOYSA-N 131.17296 131.09463 CC(C)CC(N)C(O)=O PMID:17439666|CAS:328-39-2|Reaxys:636005|LIPID_MAPS_instance:LMFA01100048|KEGG:C16439|Beilstein:636005|Gmelin:50203|Wikipedia:Leucine chebi_ontology owl:Class CL:0000059 biolink:NamedThing ameloblast Skeletogenic cell that produces enamel, overlies the odontogenic papilla, and arises from the differentiation of a preameloblast cell. tmpxe7fu0cj_hp_relaxed.owl enamel secreting cell|amelocyte FMA:70576|BTO:0001663 non-encoded relationship from VSAO produces VSAO:0000066 CL:0000139|CL:0000053 cell owl:Class UBERON:0002217 biolink:NamedThing synovial joint Joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity. Examples: Temporomandibular joint, knee joint.[FMA]. tmpxe7fu0cj_hp_relaxed.owl diarthrodial joints|diarthrosis joint|diarthrosis|articulatio synoviale|diarthroses MA:0000322|galen:SynovialJoint|EHDAA2:0003183|Wikipedia:Synovial_joint|FMA:7501|NCIT:C32461|CALOHA:TS-2138|OpenCyc:Mx4rv2bBV5wpEbGdrcN5Y29ycA|TAO:0005153|AEO:0000183|ZFA:0005153|SCTID:113234001 uberon owl:Class Is a joint that is located at the point of contact of articulating bones allowing movement. The joint has a capsule containing synovial fluid surrounding the articulating bone surfaces.[TAO] HP:0012105 biolink:NamedThing Occipital cortical atrophy Atrophy of the occipital cortex. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023040 peter 2012-09-08T02:50:53Z human_phenotype owl:Class HP:0001065 biolink:NamedThing Striae distensae Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. tmpxe7fu0cj_hp_relaxed.owl Stretch marks|Purplish striae|Striae|Striae atrophicae|Striae cutis distensae MEDDRA:10040925|SNOMEDCT_US:201067006|MSH:D057896|SNOMEDCT_US:47212006|SNOMEDCT_US:201066002|UMLS:C0152459 HP:0100680|HP:0001023|HP:0001066 owl:Class HP:0004334 biolink:NamedThing Dermal atrophy Partial or complete wasting (atrophy) of the skin. tmpxe7fu0cj_hp_relaxed.owl Skin degeneration|Skin atrophy|Atrophic skin MEDDRA:10040799|SNOMEDCT_US:400190005|UMLS:C0151514|SNOMEDCT_US:399979006 peter 2008-03-04T06:24:00Z HP:0001077|HP:0000985 human_phenotype owl:Class HP:0030789 biolink:NamedThing Excessive cerumen An increased quantity of earwax. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1382811 This feature is not necessarily associated with impacted cerumen, which if present should be coded separately. owl:Class HP:0030787 biolink:NamedThing Cerumen abnormality Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280769 owl:Class HP:0007001 biolink:NamedThing Loss of Purkinje cells in the cerebellar vermis tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849146 owl:Class HP:0002334 biolink:NamedThing Abnormal cerebellar vermis morphology An anomaly of the vermis of cerebellum. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the cerebellar vermis UMLS:C4025712 The cerebellar vermis is the unpaired, median portion of the cerebellum that connects the two hemispheres. owl:Class HP:0009196 biolink:NamedThing Absent metacarpal epiphyses Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals. tmpxe7fu0cj_hp_relaxed.owl Absent metacarpal ossification centre|Absent metacarpal ossification center|Absent end part of the long bone of hand UMLS:C4021513 doelkens 2008-12-30T02:03:34Z HP:0006013 human_phenotype owl:Class HP:0010577 biolink:NamedThing Absent epiphyses tmpxe7fu0cj_hp_relaxed.owl Absent end part of bone UMLS:C4021862 sandra1 2009-10-22T02:53:19Z human_phenotype owl:Class GO:0060267 biolink:NamedThing positive regulation of respiratory burst Any process that increases the rate frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0009893 biolink:NamedThing positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. tmpxe7fu0cj_hp_relaxed.owl activation of metabolic process|up-regulation of organismal metabolic process|up regulation of metabolic process|positive regulation of organismal metabolism|stimulation of metabolic process|stimulation of organismal metabolic process|positive regulation of metabolism|positive regulation of multicellular organismal metabolic process|upregulation of metabolic process|up-regulation of metabolic process GO:0044253 biological_process owl:Class GO:0046672 biolink:NamedThing positive regulation of compound eye retinal cell programmed cell death Any process that activates or increases the frequency, rate or extent of programmed cell death that occurs in the compound eye retina. tmpxe7fu0cj_hp_relaxed.owl upregulation of retinal cell programmed cell death|activation of retinal cell programmed cell death|positive regulation of retinal cell programmed cell death|up-regulation of retinal cell programmed cell death|up regulation of retinal cell programmed cell death|stimulation of retinal cell programmed cell death biological_process owl:Class GO:0099112 biolink:NamedThing microtubule polymerization based protein transport The transport of a protein driven by polymerization of a microtubule to which it is attached. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0099118 biolink:NamedThing microtubule-based protein transport A microtubule-based process that results in the transport of proteins. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0010172 biolink:NamedThing bulb of aorta The portion of the left ventricular outflow tract delineated by the sinotubular ridge superiorly and the bases of the valve leaflets inferiorly; it comprises the aortic sinuses, the aortic valve leaflets, the commissures, and the interleaflet triangles. tmpxe7fu0cj_hp_relaxed.owl aortic bulb|bulbus aortae|aortic root|aorta bulb|bulb of ascending aorta|supraaortic valve area|root of aorta FMA:3740|BTO:0004695 uberon owl:Class The dilated first part of the aorta containing the aortic semilunar valves and the aortic sinuses. UBERON:0005693 biolink:NamedThing manual digit 3 mesenchyme Mesenchyme that is part of a developing manual digit 3. tmpxe7fu0cj_hp_relaxed.owl manual digit III mesenchyme|hand digit 3 mesenchyme|fore limb digit 3 mesenchyme EMAPA:17437|EHDAA2:0000525 uberon owl:Class UBERON:0003978 biolink:NamedThing valve tmpxe7fu0cj_hp_relaxed.owl anatomical valve FMA:67611|OpenCyc:Mx4rvqiwE5wpEbGdrcN5Y29ycA|galen:Valve|EHDAA:1892|EHDAA:4406|EHDAA2:0004046 uberon owl:Class valvular UBERON:0007252 biolink:NamedThing intervertebral disk of cervical vertebra An intervertebral disk that is part of a cervical region of vertebral column. A cervical intervertebral disk connects at least one cervical vertebra, either to another cervical vertebra, or at one point on the vertebral colummn, to a thoracic vertebra. tmpxe7fu0cj_hp_relaxed.owl cervical intervertebral disc|intervertebral disc of cervical region EMAPA:19415|FMA:13895 uberon owl:Class UBERON:0003601 biolink:NamedThing neck cartilage A cartilage that is part of a neck [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl neck (volume) cartilage|cartilage of neck|cartilage of neck (volume) MA:0000586|EMAPA:37251 uberon owl:Class HP:0031910 biolink:NamedThing Abnormal cranial nerve physiology A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. tmpxe7fu0cj_hp_relaxed.owl 2018-06-23 13:49:43+00:00 peter owl:Class CHEBI:29067 biolink:NamedThing carboxylic acid anion The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated. tmpxe7fu0cj_hp_relaxed.owl carboxylic anions|a carboxylate|carboxylic acid anions -1 CO2R 44.00950 43.98983 [O-]C([*])=O CHEBI:58657|CHEBI:13626|CHEBI:23026|CHEBI:13945 chebi_ontology owl:Class GO:1905293 biolink:NamedThing negative regulation of neural crest cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of neural crest cell differentiation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of neural crest cell differentiation|downregulation of neural crest cell differentiation|down regulation of neural crest cell differentiation|inhibition of neural crest cell differentiation rl 2016-06-28T15:02:09Z biological_process owl:Class HP:0010991 biolink:NamedThing Abnormal morphology of the abdominal musculature An abnormality of the abdominal musculature. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the abdominal musculature UMLS:C4023608 peter 2011-02-09T08:05:11Z human_phenotype owl:Class UBERON:0005169 biolink:NamedThing interstitial tissue Connective tissue between the cellular elements of a structure. tmpxe7fu0cj_hp_relaxed.owl interstitium FMA:86301 specify differentia from stroma uberon owl:Class interstital HP:0030591 biolink:NamedThing Abnormal kinetic perimetry test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073063 owl:Class HP:0030588 biolink:NamedThing Abnormal visual field test Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0854021 owl:Class HP:0010843 biolink:NamedThing EEG with focal slow activity Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy). tmpxe7fu0cj_hp_relaxed.owl EEG: localised slow activity|EEG: focal slow activity|EEG: localized slow activity UMLS:C4021218 peter 2010-07-10T08:10:59Z human_phenotype owl:Class UBERON:0005688 biolink:NamedThing lens vesicle cavity An anatomical cavity that is part of a lens vesicle. tmpxe7fu0cj_hp_relaxed.owl lens cavity|cavity of lens vesicle|cavity of lens EMAPA:17164|EHDAA2:0000986|VHOG:0000531 uberon owl:Class (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The optic cup induces the overlying surface ectoderm first to thicken as a lens placode and then to invaginate and form a lens vesicle that differentiates into the lens.[well established][VHOG] GO:0120224 biolink:NamedThing larynx development The biological process whose specific outcome is the progression of a larynx from an initial condition to its mature state. This process begins with the formation of the larynx and ends with the mature structure. A larynx is a continuation of the pharynx that is involved in breathing, sound production, and protecting the trachea against food aspiration. tmpxe7fu0cj_hp_relaxed.owl krc 2020-02-24T17:13:10Z biological_process owl:Class HP:0009229 biolink:NamedThing Curved proximal phalanx of the 5th finger Curved appearance of the proximal phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Curved innermost bone of pinky finger|Curved innermost bone of pinkie finger|Curved innermost bone of little finger UMLS:C4024515 doelkens 2009-01-05T06:11:33Z human_phenotype owl:Class HP:0004214 biolink:NamedThing Curved phalanges of the 5th finger Curved phalanges of the 5th (little) finger. tmpxe7fu0cj_hp_relaxed.owl Curved pinky finger bone|Curved little finger bone|Curved pinkie finger bone UMLS:C4025407 human_phenotype owl:Class HP:0040277 biolink:NamedThing Neoplasm of the pituitary gland tmpxe7fu0cj_hp_relaxed.owl NCIT:C3262 owl:Class UBERON:0002509 biolink:NamedThing mesenteric lymph node The lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group. tmpxe7fu0cj_hp_relaxed.owl nodi lymphoidei mesenterici|mesenteric node FMA:12795|UMLS:C0229792|EMAPA:35561|NCIT:C77641|MA:0002829|BTO:0000767 uberon owl:Class UBERON:0002507 biolink:NamedThing abdominal lymph node A lymph node that is part of an abdomen [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl parietal abdominal lymph node|lymph node of abdomen|abdomen lymph node EMAPA:35992|MA:0002827|FMA:12787 uberon owl:Class HP:0011054 biolink:NamedThing Agenesis of molar Agenesis of molar tooth. tmpxe7fu0cj_hp_relaxed.owl Absence of molar|Failure of development of molar|Absent molars|Missing molar UMLS:C4280348|UMLS:C4021203 peter 2011-03-10T11:41:46Z human_phenotype owl:Class HP:0001592 biolink:NamedThing Selective tooth agenesis Agenesis specifically affecting one of the classes incisor, premolar, or molar. tmpxe7fu0cj_hp_relaxed.owl Failure of development of a tooth|Absence of a tooth|Agenesis of a tooth|Missing a tooth UMLS:C4280251|UMLS:C1970308 owl:Class HP:0033203 biolink:NamedThing Brachioradialis hyperreflexia Increased intensity of the brachioradialis reflex. tmpxe7fu0cj_hp_relaxed.owl 2020-10-11 14:29:43+00:00 The brachioradialis reflex is a deep tendon reflex involving the C5 and C6 nerve roots through its innervation by the radial nerve. To test brachioradialis reflex, the forearm is supported in a slightly pronated position. Then, the physician delivers a series of quick hits with the reflex hammer to the area of the styloid process of the radius at the point of brachioradialis insertion. peter owl:Class HP:0007350 biolink:NamedThing Hyperreflexia in upper limbs tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843175 human_phenotype owl:Class HP:0000988 biolink:NamedThing Skin rash A red eruption of the skin. tmpxe7fu0cj_hp_relaxed.owl Rash|Skin rash MSH:D005076|SNOMEDCT_US:112625008|MEDDRA:10037844|UMLS:C0015230|SNOMEDCT_US:271807003 owl:Class UBERON:0003342 biolink:NamedThing mucosa of anal canal A mucosa that is part of an anal canal [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl anatomical anal canal mucosa|mucosa of anatomical anal canal|mucosa of anal region|anal mucous membrane|anal canal mucosa of organ|anal region mucosa|anal canal mucosa|mucosa of organ of anatomical anal canal|anal region organ mucosa|anatomical anal canal mucosa of organ|anal canal mucous membrane|organ mucosa of anal canal|anatomical anal canal organ mucosa|organ mucosa of anatomical anal canal|mucous membrane of anal region|anal canal viewed anatomically mucosa of organ|mucous membrane of anatomical anal canal|anatomical anal canal mucous membrane|mucosa of organ of anal canal|anal region mucous membrane|organ mucosa of anal canal viewed anatomically|mucous membrane of anal canal|mucosa of organ of anal canal viewed anatomically|organ mucosa of anal region|anal canal viewed anatomically mucous membrane|anal canal organ mucosa|mucous membrane of anal canal viewed anatomically|anal canal viewed anatomically organ mucosa|mucosa of organ of anal region|anal canal viewed anatomically mucosa|anal region mucosa of organ|mucosa of anal canal viewed anatomically|anal mucosa UMLS:C0227414|FMA:74654|NCIT:C60784|EMAPA:27531 uberon owl:Class HP:0031270 biolink:NamedThing Decreased CD25 upregulation upon TCR activation Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR). tmpxe7fu0cj_hp_relaxed.owl Reduced IL2RA upregulation upon TCR activation|Poor CD25 upregulation upon TCR activation 2017-08-12 20:02:57+00:00 peter owl:Class HP:0031269 biolink:NamedThing Abnormal CD25 upregulation upon TCR activation Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 19:51:36+00:00 peter owl:Class HP:0100202 biolink:NamedThing Absent epiphysis of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the outermost bone of the pinkie toe|Absent end part of the outermost bone of the pinky toe|Absent end part of the outermost bone of the little toe UMLS:C4022219 doelkens 2010-06-24T05:03:31Z human_phenotype owl:Class HP:0100097 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the outermost bone of the pinky toe|Abnormality of the end part of the outermost bone of the pinkie toe|Abnormality of the end part of the outermost bone of the little toe UMLS:C4022324 doelkens 2010-06-24T10:02:41Z human_phenotype owl:Class HP:0009733 biolink:NamedThing Glioma The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes). tmpxe7fu0cj_hp_relaxed.owl NCIT:C3059|UMLS:C0017638|SNOMEDCT_US:74532006|SNOMEDCT_US:393564001|SNOMEDCT_US:115240006|MSH:D005910 Gliomas can be classified as 1) ependymomas, 2) astrocytomas (including glioblastoma multiforme), 3 oligodendrogliomas, and 4) mixed gliomas, such as oligoastrocytomas. peter 2009-01-31T11:15:22Z human_phenotype owl:Class HP:0100836 biolink:NamedThing Malignant neoplasm of the central nervous system A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns. tmpxe7fu0cj_hp_relaxed.owl Malignant neoplasm of the CNS UMLS:C0348374|SNOMEDCT_US:372062007 doelkens 2011-06-09T06:09:10Z human_phenotype owl:Class HP:0030774 biolink:NamedThing Mitochondrial swelling The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0026244|MSH:D008933|SNOMEDCT_US:125429001 owl:Class HP:0012087 biolink:NamedThing Abnormal mitochondrial shape An anomaly in the surface contour of mitochondria. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023050 peter 2012-09-08T11:02:39Z human_phenotype owl:Class UBERON:0011281 biolink:NamedThing nail of pedal digit 4 A nail that is part of a pedal digit 4. tmpxe7fu0cj_hp_relaxed.owl nail of pedal digit IV|fourth toe nail|nail plate of fourth toe|claw of digit 4 of hind-paw|nail of fourth toe EMAPA:18742|FMA:54353 uberon owl:Class UBERON:0001705 biolink:NamedThing nail A horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP]. tmpxe7fu0cj_hp_relaxed.owl nail/claw|talon|claw BTO:0001719|CALOHA:TS-2034|UMLS:C0027342|galen:Nail|MIAA:0000158|EV:0100159|EMAPA:35580|MAT:0000158|MA:0002703|FMA:54326|MESH:D009262|EFO:0000956|GAID:1320|NCIT:C33156|VHOG:0001361|OpenCyc:Mx4rvVjJv5wpEbGdrcN5Y29ycA The nails of humans and the claws are moth are highly similar. Both species have a proximal nail fold, cuticle, nail matrix, nail bed, nail plate, and hyponychium. Distinguishing features are the shape of the nail and the presence of an extended hyponychium in the mouse [PMC3579226] Use this class for both the nails of primates and the homologous claws of mammals such as mouse. uberon owl:Class A primate's nail consists of the unguis alone; the subunguis has disappeared HP:0003843 biolink:NamedThing Round epiphyses of the upper limbs tmpxe7fu0cj_hp_relaxed.owl Round end part of upper limb bones UMLS:C4025557 human_phenotype owl:Class HP:0003839 biolink:NamedThing Abnormality of upper limb epiphysis morphology tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of end part of upper limb long bones|Epihyseal plate abnormality of the upper limbs|Abnormality involving the epiphyses of the upper limbs UMLS:C4021722 HP:0003845 owl:Class UBERON:0005081 biolink:NamedThing ureter ureteric bud The portion of the ureteric bud that contributes to the morphogenesis of the ureter. The ureter ureteric bud is the initial structure that forms the ureter[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0000084 biolink:NamedThing ureteric bud An epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme[MP]. tmpxe7fu0cj_hp_relaxed.owl ureteric diverticulum|gemma ureterica|diverticulum metanephricum|diverticulum|metanephric diverticulum|ureteric ampulla|metanephric bud VHOG:0000541|EHDAA:3091|NCIT:C34207|EMAPA:17209|EHDAA2:0002140|EHDAA:5917|UMLS:C1284058|BTO:0001646 uberon owl:Class Outgrowth of the mesonephric duct that penetrates the metanephric mesoderm and forms the ureter, renal pelvis, major and minor calyces and collecting ducts. [Embryology, See_Dudek_RW_and_Fix_JD, Third_Edition_(2004)_Philadelphia:_Lippincott_William_and_Wilkins, p.137][VHOG]|Outgrowth of the mesonephric duct that penetrates the metanephric mesoderm and forms the ureter, renal pelvis, major and minor calyces and collecting ducts[VHOG:0000541]. The first embryonic hint of a metanephros is the formation of the metanephric duct that appears as a ureteric diverticulum arising at the base of preexisting mesonephric duct. The ureteric diverticulum grows dorsally into the posterior region of the nephric ridge. Here it enlarges and stimulates the growth of metanephric tubules that come to make up the metanephric kidney. The metanephros becomes the adult kidney of amniotes, and the metanephric duct is usually called the ureter.[well established][VHOG] UBERON:0008969 biolink:NamedThing dental follicle A sac containing the developing tooth and its odontogenic organ. The dental follicle (DF) differentiates into the periodontal ligament. In addition, it may be the precursor of other cells of the periodontium, including osteoblasts, cementoblasts and fibroblasts. They develop into the alveolar bone, the cementum with Sharpey's fibers and the periodontal ligament fibers respectively. tmpxe7fu0cj_hp_relaxed.owl tooth follicle|dental sac NCIT:C34138|EMAPA:35275|BTO:0000337|MA:0003121 uberon owl:Class HP:0001831 biolink:NamedThing Short toe A toe that appears disproportionately short compared to the foot. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic toes|Short toes|Brachydactyly of the foot|Short foot phalanges|Short toe|Stubby toes|Hypoplasia of the toe UMLS:C1836195 This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly. HP:0001767|HP:0001855|HP:0004701|HP:0008099|HP:0001781|HP:0005889 human_phenotype owl:Class HP:0011927 biolink:NamedThing Short digit One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. tmpxe7fu0cj_hp_relaxed.owl Short digit|Very short digits UMLS:C4023124|UMLS:C1860176 Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156. peter 2012-06-10T09:18:42Z human_phenotype owl:Class PATO:0002076 biolink:NamedThing movement behavioral quality A behavioral quality inhering in a bearer by virtue of the bearer's movement. tmpxe7fu0cj_hp_relaxed.owl movement behavioural quality 2009-09-18T02:04:48Z quality owl:Class PATO:0000186 biolink:NamedThing behavioral quality An organismal quality inhering in a bearer by virtue of the bearer's behavior aggregate of the responses or reactions or movements in a given situation. tmpxe7fu0cj_hp_relaxed.owl behavioural quality PATO:0001722 quality owl:Class HP:0006193 biolink:NamedThing Thimble-shaped middle phalanges of hand The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat. tmpxe7fu0cj_hp_relaxed.owl Thimble-shaped middle bones of hand UMLS:C4025083 human_phenotype owl:Class UBERON:0007134 biolink:NamedThing trunk ganglion Ganglion which is located in the trunk. tmpxe7fu0cj_hp_relaxed.owl body ganglion|trunk ganglia EFO:0000901|MAT:0000344|TAO:0001573|MIAA:0000344|ZFA:0001573 uberon owl:Class UBERON:0005177 biolink:NamedThing trunk region element An organ or element that part of the trunk region. The trunk region can be further subdividied into thoracic (including chest and thoracic cavity) and abdominal (including abdomen and pelbis) regions. tmpxe7fu0cj_hp_relaxed.owl trunk organ MA:0000516|EMAPA:37270 uberon owl:Class UBERON:0018144 biolink:NamedThing cervical rib A rib that is attached to a cervical vertebra. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37825|UBERONTEMP:d522e981-3a43-4cab-9862-4344b5c3ff22 Trunk, presacral and sacral ribs do not have a 'part of some region' asserted for them, we should add it to them[PHENOSCAPE:ad] uberon owl:Class May be homologous with the transverse processes of cervical vertebra UBERON:0002228 biolink:NamedThing rib An intersegmental rod-shaped bone that forms in the peritoneal membrane and attach to the vertebral parapophyses. tmpxe7fu0cj_hp_relaxed.owl dorsal rib|ribs|pleural rib MESH:D012272|EFO:0003066|NCIT:C12782|GAID:245|FMA:7574|MA:0000315|ZFA:0000538|TAO:0000538|VHOG:0001154|galen:Rib|UMLS:C0035561|EMAPA:18010|CALOHA:TS-2209|OpenCyc:Mx4rvVjNoZwpEbGdrcN5Y29ycA|AAO:0000545 uberon owl:Class Endochondral, rodlike element that articulates with the transverse process and parapophysis (double-headed rib), or with the transverse process only (single-headed rib); it extends into the body wall and provides a site for muscle attachment.[AAO]|Endochondral bone that is intersegmental and rod-shaped, forming in the peritoneal membrane and attached to the vertebral parapophyses. Ribs protect and support internal organs.[TAO] costal In most vertebrates, ribs surround the chest. In some species, especially snakes, ribs may provide support and protection for the entire body They protect and support internal organs and enable lungs to expand by expanding the chest. UBERON:0001441 biolink:NamedThing hindlimb skeleton Subdivision of skeleton consisting of all skeletal elements in an hindlimb region. tmpxe7fu0cj_hp_relaxed.owl hind limb skeleton|ossa membri inferioris|skeleton of free lower limb|bones of lower limb|lower limb skeleton|skeleton of lower limb|hind-limb skeleton|hindlimb skeleton|set of bones of lower limb|free lower limb skeleton VHOG:0001255|OpenCyc:Mx4rvZcKkZwpEbGdrcN5Y29ycA|XAO:0003062|EHDAA2:0002226|AAO:0000217|FMA:24144|VSAO:0000152|EMAPA:32633 TOOD - find a home for: FMA:24140 uberon owl:Class Skeletal structure of the paired, posterior appendages.[AAO] relationship type change: differentiates_from lateral plate mesoderm (AAO:0010574) CHANGED TO: develops_from lateral plate mesoderm (UBERON:0003081)[AAO] Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] UBERON:0007273 biolink:NamedThing pelvic appendage skeleton The collection of all skeletal elements in a pelvic appendage region. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0051101 biolink:NamedThing regulation of DNA binding Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0051098 biolink:NamedThing regulation of binding Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:7500039 biolink:NamedThing posterior of pes The posterior-most point of a foot. tmpxe7fu0cj_hp_relaxed.owl https://orcid.org/0000-0003-2699-3066 uberon owl:Class HP:0100377 biolink:NamedThing Aplasia/hypoplasia of the proximal phalanx of the 5th toe Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe. tmpxe7fu0cj_hp_relaxed.owl Absent/small innermost pinkie toe bone|Absent/small innermost little toe bone|Absent/underdeveloped innermost 5th toe bone|Absent/small innermost pinky toe bone UMLS:C4022114 human_phenotype owl:Class HP:0010203 biolink:NamedThing Aplasia/hypoplasia of proximal toe phalanx Absence (agenesis) or underdevelopment of the proximal phalanx of the toe. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped innermost toe bones|Aplasia/Hypoplasia of the proximal phalanges of the toes|Absent/small innermost toe bones UMLS:C4021317 doelkens 2009-05-29T01:54:18Z owl:Class HP:0006894 biolink:NamedThing Hypoplastic olfactory lobes tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859231 owl:Class HP:0100003 biolink:NamedThing Peritoneal mesothelioma A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0346109|SNOMEDCT_US:109853004|NCIT:C3234 doelkens 2010-05-11T04:16:23Z human_phenotype owl:Class HP:0100001 biolink:NamedThing Malignant mesothelioma Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0345967|MSH:C562839|SNOMEDCT_US:62064005 doelkens 2010-05-11T04:10:29Z owl:Class CHEBI:25696 biolink:NamedThing organic anion Any organic ion with a net negative charge. tmpxe7fu0cj_hp_relaxed.owl organic anions chebi_ontology owl:Class CHEBI:25699 biolink:NamedThing organic ion tmpxe7fu0cj_hp_relaxed.owl organic ions chebi_ontology owl:Class UBERON:0003043 biolink:NamedThing posterior part of anterior commissure The major forebrain commissure that connects the two temporal lobes of the cortex. tmpxe7fu0cj_hp_relaxed.owl commissura rostralis, pars posterior|pars posterior commissurae anterioris|pars posterior|temporal limb of anterior commissure|commissura anterior, crus posterius|anterior commissure temporal limb|commissura anterior, pars posterior|anterior commissure, temporal limb|anterior commissure pars posterior|anterior commissure, posterior part BAMS:act|UMLS:C0175210|BIRNLEX:977|FMA:61964|BAMS:acp|MBA:908|EMAPA:37410 uberon owl:Class HP:0033932 biolink:NamedThing Arcuate artery intima/media coagulative necrosis A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures. tmpxe7fu0cj_hp_relaxed.owl Coagulative necrosis within interlobular arterial intima/media 2021-06-24 01:20:42+00:00 peter owl:Class HP:0033931 biolink:NamedThing Arcuate artery intima/media necrosis Death of tissue in the inner or middle layer of the arcuate artery of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-24 01:19:00+00:00 peter owl:Class PATO:0001545 biolink:NamedThing inflexible A physical quality inhering in a bearer by virtue of the bearer's inability of being turned, bowed, or twisted without breaking. tmpxe7fu0cj_hp_relaxed.owl stiff|stiffness quality owl:Class PATO:0001543 biolink:NamedThing flexibility A physical quality inhering in a bearer by virtue of the bearer's disposition to being turned, bowed, or twisted without breaking. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0100890 biolink:NamedThing Cyst of the ductus choledochus tmpxe7fu0cj_hp_relaxed.owl Choledochal cyst UMLS:C0008340|SNOMEDCT_US:397868007|SNOMEDCT_US:440471007|MSH:D015529|SNOMEDCT_US:398197009 doelkens 2011-12-01T05:02:35Z human_phenotype owl:Class HP:0100889 biolink:NamedThing Abnormality of the ductus choledochus An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the common bile duct UMLS:C4020944 doelkens 2011-12-01T04:52:13Z human_phenotype owl:Class CL:1001599 biolink:NamedThing pancreas exocrine glandular cell Glandular cell of exocrine pancreas epithelium. Example: pancreatic acinar cell, glandular cells in pancreatic canaliculi, glandular cells in pancreatic ducts. tmpxe7fu0cj_hp_relaxed.owl exocrine pancreas glandular cell|pancreas exocrine glandular cells CALOHA:TS-1242|BTO:0000028 owl:Class CL:1001433 biolink:NamedThing epithelial cell of exocrine pancreas An epithelial cell of the exocrine pancreas. tmpxe7fu0cj_hp_relaxed.owl exocrine pancreas cell FMA:70986 cell owl:Class HP:0500148 biolink:NamedThing Abnormal circulating glutamate concentration Any deviation from the normal concentration of glutamate in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of glutamate metabolism 2018-10-04 14:22:57+00:00 owl:Class HP:0010902 biolink:NamedThing Abnormal circulating glutamine family amino acid concentration Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023664 peter 2010-12-03T04:30:22Z human_phenotype owl:Class HP:0004195 biolink:NamedThing Osteolytic defects of the phalanges of the 4th finger Osteolytic defects of the phalanges of the 4th (ring) finger. tmpxe7fu0cj_hp_relaxed.owl Lytic defects of the phalanges of the ring finger UMLS:C4020832|UMLS:C4025409 human_phenotype owl:Class UBERON:0004432 biolink:NamedThing proximal epiphysis of distal phalanx of manual digit 2 A proximal epiphysis that is part of a distal phalanx of manual digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of distal phalanx of second finger|proximal epiphysis of distal phalanx of index finger|proximal epiphysis of distal phalanx of manual digit II|base of distal phalanx of second digit of hand|base of distal phalanx of index finger|basal epiphysis of distal phalanx of index finger FMA:37505 uberon owl:Class UBERON:0011979 biolink:NamedThing epiphysis of distal phalanx of manus An epiphysis that is part of a distal phalanx of manus. tmpxe7fu0cj_hp_relaxed.owl epiphysis of distal phalanx of finger FMA:321561 uberon owl:Class UBERON:0034713 biolink:NamedThing cranial neuron projection bundle Any of the cranial nerves, or their central nervous system analogs (the optic tract, the epiphyseal tract). These analogs are not true nerves, and are instead evaginated sensory afferents emanating from the brain. tmpxe7fu0cj_hp_relaxed.owl cranial nerve fiber tract|neuron projection bundle from brain|cranial nerve fiber bundle|cranial nerve or tract uberon owl:Class UBERON:0000122 biolink:NamedThing neuron projection bundle A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses. tmpxe7fu0cj_hp_relaxed.owl neural fiber bundle|funiculus|nerve fiber bundle FBbt:00005099|CARO:0001001|NLX:147821 UBERON:0005163 uberon owl:Class GO:0046014 biolink:NamedThing negative regulation of T cell homeostatic proliferation Any process that stops, prevents or reduces the rate or extent of resting T cell proliferation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of T lymphocyte homeostatic proliferation|negative regulation of resting T cell proliferation|down regulation of T cell homeostatic proliferation|downregulation of T cell homeostatic proliferation|negative regulation of T-cell homeostatic proliferation|down-regulation of T cell homeostatic proliferation|inhibition of T cell homeostatic proliferation|negative regulation of T-lymphocyte homeostatic proliferation biological_process owl:Class GO:0046013 biolink:NamedThing regulation of T cell homeostatic proliferation Any process that modulates the frequency, rate or extent of resting T cell proliferation. tmpxe7fu0cj_hp_relaxed.owl regulation of T lymphocyte homeostatic proliferation|regulation of resting T cell proliferation|regulation of T-cell homeostatic proliferation|regulation of T-lymphocyte homeostatic proliferation biological_process owl:Class HP:0003778 biolink:NamedThing Short mandibular rami tmpxe7fu0cj_hp_relaxed.owl Decreased height of mandibular ramus|Underdeveloped mandibular rami|Short mandibular ramus|Decreased size of mandibular ramus|Short body and ramus of mandible UMLS:C4280545|UMLS:C1841648 HP:0005447 human_phenotype owl:Class HP:0000347 biolink:NamedThing Micrognathia Developmental hypoplasia of the mandible. tmpxe7fu0cj_hp_relaxed.owl Severe hypoplasia of mandible|Little mandible|Hypoplasia of mandible|Underdevelopment of mandible|Mandibular retrusion|Hypoplasia of lower jaw|Mandibular deficiency|Little lower jaw|Decreased size of lower jaw|Deficiency of lower jaw|Small lower jaw|Small mandible|Underdevelopment of lower jaw|Small jaw|Hypoplastic mandible condyle|Micrognathia of lower jaw|Lower jaw hypoplasia|Lower jaw deficiency|Hypotrophic lower jaw|Decreased projection of mandible|Mandibular hypoplasia|Mandibular retrognathia|Lower jaw retrusion|Robin mandible|Retrusion of lower jaw|Decreased size of mandible|Mandibular micrognathia|Micromandible|Hypoplastic mandible|Hypotrophic mandible|Decreased projection of lower jaw UMLS:C0025990|Fyler:4163|UMLS:C0240295|UMLS:C1857130|MSH:D008844|SNOMEDCT_US:32958008 Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. HP:0005460|HP:0005470|HP:0002005|HP:0000330|HP:0000210|HP:0002674|HP:0000345|HP:0004669 human_phenotype owl:Class HP:0010774 biolink:NamedThing Cor triatriatum The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name). tmpxe7fu0cj_hp_relaxed.owl Triatrial heart UMLS:C4023708|ICD-10:Q24.2|Fyler:3031 sdoelken 2010-04-29T10:07:24Z human_phenotype owl:Class UBERON:0010344 biolink:NamedThing 3rd arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 3rd arch mesenchyme. tmpxe7fu0cj_hp_relaxed.owl head mesenchyme derived arch 3 mesenchyme|pharyngeal arch 3 mesenchyme from head mesenchyme|branchial arch 3 mesenchyme from head mesenchyme|mesenchyme derived from head mesoderm of mesenchyme of 3rd arch EHDAA2:0000082|EMAPA:16403 uberon owl:Class HP:0003888 biolink:NamedThing Flattened humeral heads tmpxe7fu0cj_hp_relaxed.owl Flattended head of long bone in upper arm UMLS:C3808869 human_phenotype owl:Class HP:0003887 biolink:NamedThing Abnormality of the humeral heads tmpxe7fu0cj_hp_relaxed.owl Abnormal head of long bone in upper arm UMLS:C4025528 human_phenotype owl:Class HP:0010334 biolink:NamedThing Polydactyly affecting the 3rd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023898 doelkens 2009-07-16T11:40:52Z human_phenotype owl:Class HP:0010320 biolink:NamedThing Abnormality of the 3rd toe An anomaly of the third toe. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the 3rd toe UMLS:C4023907 doelkens 2009-07-16T11:37:12Z human_phenotype owl:Class UBERON:0006539 biolink:NamedThing mammary gland fluid/secretion A substance that is secreted by a mammary gland. The substance may differ depending on phase, with colostrum produced during pregancy/early lactation, and milk produced afterwards. tmpxe7fu0cj_hp_relaxed.owl secretion of mammary gland|lactiferous gland fluid|mammary gland secreted fluid|mammary gland secretion|mammary gland fluid|lactiferous gland secretion EMAPA:36538|MA:0002505 uberon owl:Class UBERON:0000463 biolink:NamedThing organism substance Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. tmpxe7fu0cj_hp_relaxed.owl organism substance|body fluid or substance|portion of body substance|body substance|portion of organism substance XAO:0004001|CALOHA:TS-2101|galen:BodySubstance|TAO:0001487|ZFA:0001487|MA:0002450|EMAPA:35178|FMA:9669|BILA:0000004|HAO:0000004|TGMA:0001824|AAO:0010839|FBbt:00007019|SPD:0000008|AEO:0000004|NCIT:C13236|EHDAA2:0003004|CARO:0000004|VHOG:0001726 uberon owl:Class PR:P18181 biolink:NamedThing CD48 antigen (mouse) A CD48 molecule that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl HM48-1 (mouse)|mCD48|SLAM family member 2 (mouse)|SLAMF2 (mouse)|CD48 (mouse)|MRC OX-45 surface antigen (mouse)|Bcm-1|BLAST-1 (mouse)|Cd48|signaling lymphocytic activation molecule 2 (mouse)|sgp-60 (mouse)|BCM1 surface antigen (mouse) UniProtKB:P18181 Category=organism-gene. protein owl:Class PR:000001308 biolink:NamedThing CD48 molecule A protein that is a translation product of the human CD48 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl CD48 antigen|TCT.1|MRC OX-45 surface antigen|leukocyte antigen MEM-102|signaling lymphocytic activation molecule 2|BCM1|SLAM family member 2|B-lymphocyte activation marker BLAST-1|CD48|HM48-1|Bcm-1|BLAST1|BCM1 surface antigen|sgp-60|BLAST-1|SLAMF2 PANTHER:PTHR12080:SF3|PIRSF:PIRSF001973 Category=gene. Requested by=CL. protein owl:Class GO:0072527 biolink:NamedThing pyrimidine-containing compound metabolic process The chemical reactions and pathways involving a pyrimidine-containing compound, i.e. any compound that contains pyrimidine or a formal derivative thereof. tmpxe7fu0cj_hp_relaxed.owl pyrimidine-containing compound metabolism|pyrimidine and derivative metabolic process mah 2011-01-04T03:27:19Z biological_process owl:Class GO:0034641 biolink:NamedThing cellular nitrogen compound metabolic process The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl cellular nitrogen compound metabolism biological_process owl:Class UBERON:0018568 biolink:NamedThing lower central secondary incisor tooth A lower jaw incisor that is in_the_central_side_of a dentition. tmpxe7fu0cj_hp_relaxed.owl mandibular central secondary incisor tooth|lower central permanent incisor tooth|mandibular central permanent incisor FMA:55723 uberon owl:Class UBERON:0003451 biolink:NamedThing lower jaw incisor An incisor tooth that is part of a lower jaw [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl incisor of ventral mandibular arch|incisor tooth of ventral mandibular arch|lower jaw incisor tooth|incisor tooth of lower jaw|lower incisor|ventral mandibular arch incisor|incisor of lower jaw|ventral mandibular arch incisor tooth|mandibular incisor MA:0001600|EHDAA2:0001021|NCIT:C49583|EMAPA:17918|BTO:0001942|UMLS:C1708755 uberon owl:Class HP:0032510 biolink:NamedThing Tendon pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon. tmpxe7fu0cj_hp_relaxed.owl 2019-05-23 23:19:19+00:00 peter owl:Class UBERON:0001454 biolink:NamedThing distal tarsal bone 3 Endochondral tarsal bone articulating with centralia and metatarsal 3. tmpxe7fu0cj_hp_relaxed.owl lateral cuneiform bone|os cuneiforme tertium|distal tarsal 3|tarsal 3|foor distal carpal bone 3|os tarsale III|os cuneiforme laterale|lateral cuneiform|3rd cuneiform|external cuneiform|ossa cuneiforme laterale|external cuneiform bone of foot|distal tarsal 3 bone|third cuneiform bone|cuneiforme 3|ectocuneiforme galen:LateralCuneiform|VSAO:0005054|BTO:0002358|FMA:24520|NCIT:C32554|AAO:0000920|EMAPA:36178|MA:0001354|OpenCyc:Mx4rvoLPu5wpEbGdrcN5Y29ycA|UMLS:C1517036 The lateral cuneiform (also known as third cuneiform / external cuneiform) intermediate in size between the other two cuneiform bones, is also wedge-shaped, the base being uppermost. It occupies the center of the front row of the tarsal bones, between the second cuneiform medially, the cuboid laterally, the navicular posteriorly and the third metatarsal in front. [WP,unvetted] http://upload.wikimedia.org/wikipedia/commons/5/52/Gray291.png uberon owl:Class Small element that articulates anteriorly with metatarsal III. It may be fused to tarsal 2.[AAO] In some types, the cuneiform is found as two or three bones, in which case the more anterior ('dorsal' in dorsal/plantar terminology) is the ectocuneiform, while the more posterior or plantar bones are the mesocuneiform and entocuneiform.[Palaeos] UBERON:0010721 biolink:NamedThing distal tarsal bone There are three cuneiform bones in the human foot: the medial cuneiform the intermediate cuneiform also known as the middle the lateral cuneiform. They are located between the navicular bone and the first, second and third metatarsal bones and are medial to the cuboid bone[WP, unvetted, human specific]. tmpxe7fu0cj_hp_relaxed.owl os cuneiforme|distal tarsal|cuneiform|distal tarsal bone|cuneiform bone|os cuneiform FMA:24517|UMLS:C1511560|AAO:0000914|NCIT:C32416 http://upload.wikimedia.org/wikipedia/commons/9/9e/Gray268.png uberon owl:Class Series of elements that articulate with the metatarsals.[AAO] HGNC:9958 biolink:NamedThing REN (human) A protein coding gene REN in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class SO:0001217 biolink:NamedThing protein_coding_gene tmpxe7fu0cj_hp_relaxed.owl protein coding gene sequence owl:Class UBERON:0000199 biolink:NamedThing neck of radius The narrow part of the shaft of the radius just below the head. tmpxe7fu0cj_hp_relaxed.owl radial neck|collum radii FMA:23479|galen:NeckOfRadius uberon owl:Class UBERON:0005055 biolink:NamedThing zone of long bone An organ part that is part of a long bone [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl long bone zone FMA:24008 uberon owl:Class UBERON:0005154 biolink:NamedThing epithelial cord A cord of epithelial cells without a lumen and usually several cells thick. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004052|AEO:0000216 uberon owl:Class UBERON:0000486 biolink:NamedThing multilaminar epithelium Epithelium which consists of more than one layer of epithelial cells that may or may not be in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, ciliated stratified columnar epithelium.[FMA]. tmpxe7fu0cj_hp_relaxed.owl laminated epithelium|stratified epithelium FMA:45562|EHDAA2:0003069|UMLS:C0682575|XAO:0004006|HAO:0000069|NCIT:C33622|BTO:0002074|TAO:0001494|SCTID:309044005|Wikipedia:Stratified_epithelium|AEO:0000069|AAO:0010059|CARO:0000069|BILA:0000069|ZFA:0001494 uberon owl:Class Epithelium that consists of more than one layer of epithelial cells.[CARO] GO:0007026 biolink:NamedThing negative regulation of microtubule depolymerization Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol. tmpxe7fu0cj_hp_relaxed.owl inhibition of microtubule depolymerization|downregulation of microtubule depolymerization|microtubule rescue|down-regulation of microtubule depolymerization|down regulation of microtubule depolymerization|negative regulation of microtubule disassembly|negative regulation of microtubule catastrophe|microtubule stabilization biological_process owl:Class HP:0009228 biolink:NamedThing Bullet-shaped proximal phalanx of the 5th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped innermost pinkie finger bone|Bullet-shaped innermost little finger bone|Bullet-shaped innermost pinky finger bone UMLS:C4024516 doelkens 2009-01-05T06:11:33Z human_phenotype owl:Class GO:0072666 biolink:NamedThing establishment of protein localization to vacuole The directed movement of a protein to a specific location in a vacuole. tmpxe7fu0cj_hp_relaxed.owl establishment of protein localisation to vacuole mah 2011-02-14T02:56:29Z biological_process owl:Class GO:0045184 biolink:NamedThing establishment of protein localization The directed movement of a protein to a specific location. tmpxe7fu0cj_hp_relaxed.owl protein positioning|protein recruitment|establishment of protein localisation biological_process owl:Class UBERON:0001551 biolink:NamedThing vein of hindlimb zeugopod tmpxe7fu0cj_hp_relaxed.owl sural vein EMAPA:37231|FMA:44561|MA:0002231 uberon owl:Class The term 'sural veins' is not sufficient to appropriately designate the complex venous system of the calf. This should be designated as soleal veins (venae solealis), the veins of the soleus muscle and gastrocnemius veins (venae gastrocnemii) UBERON:0004261 biolink:NamedThing lower leg blood vessel A blood vessel that is part of a lower leg [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hindlimb zeugopod blood vessel EMAPA:37300|MA:0000675 uberon owl:Class GO:0060760 biolink:NamedThing positive regulation of response to cytokine stimulus Any process that increases the rate, frequency, or extent of a response to cytokine stimulus. tmpxe7fu0cj_hp_relaxed.owl dph 2009-06-22T02:58:04Z biological_process owl:Class GO:0048584 biolink:NamedThing positive regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. tmpxe7fu0cj_hp_relaxed.owl up-regulation of response to stimulus|upregulation of response to stimulus|up regulation of response to stimulus|activation of response to stimulus|stimulation of response to stimulus Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class HP:0031109 biolink:NamedThing Agalactia Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant. tmpxe7fu0cj_hp_relaxed.owl Lactation incapacity 2017-06-30 15:43:23+00:00 robinp owl:Class HP:0031094 biolink:NamedThing Abnormal breast physiology Any anomaly of the function of the breast. tmpxe7fu0cj_hp_relaxed.owl 2017-06-30 15:42:09+00:00 robinp owl:Class HP:0032055 biolink:NamedThing Focal cortical dysplasia type IIIa A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 11:16:43+00:00 peter owl:Class HP:0032054 biolink:NamedThing Focal cortical dysplasia type III A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 11:15:25+00:00 peter owl:Class PATO:0000941 biolink:NamedThing vacuolated A structural quality inhering in a cytoplasm that contains fluid filled cavities. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0002014 biolink:NamedThing structure, cavities A structural quality that inheres in a bearer by virtue of the bearer's containing hollow areas. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class UBERON:0010069 biolink:NamedThing outer epithelial layer of tympanic membrane A portion of the external acoustic meatus epithelium which makes up the outer (cuticular) layer of the tympanic membrane. tmpxe7fu0cj_hp_relaxed.owl cuticular stratum of tympanic membrane|tympanic membrane external acoustic meatus epithelial component|outer cuticular layer of tympanic membrane|outer layer of tympanic membrane|cuticular layer of tympanic membrane FMA:56819 uberon owl:Class GO:0002089 biolink:NamedThing lens morphogenesis in camera-type eye The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. tmpxe7fu0cj_hp_relaxed.owl lens morphogenesis|lens morphogenesis in camera-style eye biological_process owl:Class GO:0120111 biolink:NamedThing neuron projection cytoplasm All of the contents of a plasma membrane bounded neuron projection, excluding the plasma membrane surrounding the projection. tmpxe7fu0cj_hp_relaxed.owl krc 2017-11-01T18:58:12Z cellular_component owl:Class CHEBI:62081 biolink:NamedThing 1,1-diunsubstituted alkanesulfonate An alkanesulfonate in which the carbon at position 1 is attached to at least two hydrogens. tmpxe7fu0cj_hp_relaxed.owl 1,1-di-unsubstituted alkanesulfonates|1,1-di-unsubstituted alkanesulfonate|1,1-diunsubstituted alkanesulfonates -1 CH2O3SR 94.09000 93.97246 [H]C([H])([*])S([O-])(=O)=O MetaCyc:Alkanesulfonates|KEGG:C15521 chebi_ontology owl:Class CHEBI:33554 biolink:NamedThing organosulfonate oxoanion An organic anion obtained by deprotonation of the sufonate group(s) of any organosulfonic acid. tmpxe7fu0cj_hp_relaxed.owl organosulfonate|organosulfonate oxoanions|organosulfonates -1 O3SR 80.064 79.95681 *S([O-])(=O)=O chebi_ontology owl:Class CHEBI:33521 biolink:NamedThing metal atom An atom of an element that exhibits typical metallic properties, being typically shiny, with high electrical and thermal conductivity. tmpxe7fu0cj_hp_relaxed.owl elemental metals|elemental metal|metal element|metals|metal elements Wikipedia:Metal|PMID:21784043|KEGG:C00050 CHEBI:6788|CHEBI:25217 chebi_ontology owl:Class CHEBI:33250 biolink:NamedThing atom A chemical entity constituting the smallest component of an element having the chemical properties of the element. tmpxe7fu0cj_hp_relaxed.owl atomo|atoms|element|elements|atomus|atome|atom CHEBI:23907|CHEBI:22671 chebi_ontology owl:Class UBERON:0005617 biolink:NamedThing mesenteric vein A vein that returns blood from the intestines. tmpxe7fu0cj_hp_relaxed.owl intestinal vein NCIT:C53055|UMLS:C0025473|EHDAA:4442|BTO:0002781|MA:0002177|EMAPA:17348|RETIRED_EHDAA2:0001125|MESH:D008642 uberon owl:Class In humans the inferior mesenteric vein empties into the splenic vein, the superior mesenteric vein joins the splenic vein to form the portal vein UBERON:0001638 biolink:NamedThing vein Any of the tubular branching vessels that carry blood from the capillaries toward the heart. tmpxe7fu0cj_hp_relaxed.owl venous vessel|venae|vena|venous tree organ part|venous subtree|vascular element XAO:0000115|OpenCyc:Mx4rvVjkWpwpEbGdrcN5Y29ycA|BTO:0000234|TAO:0000082|Wikipedia:Vein|AEO:0000209|UMLS:C0042449|MAT:0000037|EMAPA:35906|ZFA:0000082|EHDAA2:0003254|MA:0000067|EFO:0000816|galen:Vein|VHOG:0001743|MESH:D014680|AAO:0010212|MIAA:0000037|SCTID:181367001|NCIT:C12814|CALOHA:TS-1108|FMA:50723|GAID:492|EV:0100031 http://upload.wikimedia.org/wikipedia/commons/c/c2/Venous_system_en.svg TODO - check with MA - vein vs venous blood vessel uberon owl:Class Part of the circulatory system composed of blood vessels which carry blood from other organs, tissues, and cells to the heart.[AAO] The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] venous HP:0004272 biolink:NamedThing Cortical thinning of hand bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025378 human_phenotype owl:Class HP:0002753 biolink:NamedThing Thin bony cortex Abnormal thinning of the cortical region of bones. tmpxe7fu0cj_hp_relaxed.owl Thin cortices UMLS:C1833325 HP:0003104 human_phenotype owl:Class HP:0032413 biolink:NamedThing Diffuse subcortical band heterotopia Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain. tmpxe7fu0cj_hp_relaxed.owl Subcortical band heterotopia diffuse 2019-02-24 21:25:58+00:00 peter owl:Class HP:0032409 biolink:NamedThing Subcortical band heterotopia A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 21:08:16+00:00 peter owl:Class HP:0100403 biolink:NamedThing Duplication of the middle phalanx of the 5th toe Partial or complete duplication of the middle phalanx of the 5th toe. tmpxe7fu0cj_hp_relaxed.owl Duplication of the middle bone of the pinkie toe|Duplication of the middle bone of the pinky toe|Duplication of the middle bone of the little toe|Duplication of the middle phalanx of the fifth toe|Partial/complete duplication of the middle phalanx of the 5th toe UMLS:C4020994 human_phenotype owl:Class HP:0010391 biolink:NamedThing Duplication of the phalanges of the 5th toe Partial or complete duplication of one or more phalanx of little toe. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the phalanges of the 5th toe|Duplication of the phalanges of the fifth toe|Duplication of the bones of the little toe|Duplication of the bones of the pinky toe|Duplication of the bones of the pinkie toe UMLS:C4020903 doelkens 2009-07-16T11:52:18Z human_phenotype owl:Class CL:0001035 biolink:NamedThing bone cell A connective tissue cell found in bone. tmpxe7fu0cj_hp_relaxed.owl adiehl 2011-11-16T04:28:16Z cell owl:Class CL:0000548 biolink:NamedThing animal cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class GO:0002700 biolink:NamedThing regulation of production of molecular mediator of immune response Any process that modulates the frequency, rate, or extent of the production of molecular mediator of immune response. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0002697 biolink:NamedThing regulation of immune effector process Any process that modulates the frequency, rate, or extent of an immune effector process. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0031767 biolink:NamedThing Consecutive esotropia Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:48:32+00:00 peter owl:Class GO:0006555 biolink:NamedThing methionine metabolic process The chemical reactions and pathways involving methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. tmpxe7fu0cj_hp_relaxed.owl methionine and threonine metabolism|methionine and threonine metabolic process|methionine metabolism UM-BBD_pathwayID:met biological_process owl:Class GO:0009066 biolink:NamedThing aspartate family amino acid metabolic process The chemical reactions and pathways involving amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine. tmpxe7fu0cj_hp_relaxed.owl aspartate family amino acid metabolism biological_process owl:Class UBERON:0015107 biolink:NamedThing distal tarsal bone 2 pre-cartilage condensation A distal tarsal bone 2 endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0015101 biolink:NamedThing distal tarsal bone pre-cartilage condensation A distal tarsal endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0002305 biolink:NamedThing Athetosis A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest. tmpxe7fu0cj_hp_relaxed.owl Involuntary writhing movements in fingers, hands, toes, and feet|Athetoid movements|Involuntary writhing movements UMLS:C0004158|MSH:D001264|UMLS:C1845265|SNOMEDCT_US:44913001|SNOMEDCT_US:58593005 Athetosis derives from the Greek word for 'changeable' or 'unfixed'. HP:0007167|HP:0007316 owl:Class HP:0011442 biolink:NamedThing Abnormal central motor function An anomaly of the control or production of movement in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl Abnormality of central motor function UMLS:C4023354 peter 2012-03-18T02:29:04Z owl:Class CHEBI:18408 biolink:NamedThing cobamamide A member of the class of cobalamins that is vitamin B12 in which the cyano group is replaced by a 5'-deoxyadenos-5'-yl moiety. It is one of the two metabolically active form of vitamin B12. tmpxe7fu0cj_hp_relaxed.owl 5,6-Dimethylbenzimidazolyl-Co-5'-deoxy-5'-adenosylcobamide|5'-Deoxy-5'-adenosylcobalamin|5'-deoxyadenosyl-5,6-dimethylbenzimidazolylcobamide|AdoCbl|adenosylcobalamin|(5,6-dimethylbenzimidazolyl)cobamide coenzyme|DBC coenzyme|cobamide coenzyme|Adenosylcobalamin|cobamamidum|Funacomide|Adenosylcob(III)alamin|adenosylcob(III)alamin|Calomide|coenzyme B-12|5'-Deoxy-5'-adenosyl vitamin B12|Coenzyme B12|Deoxyadenosylcobalamin|Vitamin B12 coenzyme|alpha-(5,6-Dimethylbenzimidazolyl)cobamide coenzyme|5'-Deoxy-5'-adenosyl-5,6-dimethylbenzimidazolylcobamide|(5,6-Dimethylbenzimidazolyl)cobamide coenzyme|DMBC coenzyme|cobamamid|cobamamide|5'-deoxyadenosyl vitamin B12|5,6-Dimethylbenzimidazolyl-5-deoxyadenosyl-cobamide|cobamamida|Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-adenosylcobamide|Cobamamide|Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-(5'-deoxy-5'-adenosyl)cobamide|Dibencozide|5'-deoxyadenosylcobalamin|Cobalamin coenzyme 0 C72H100CoN18O17P InChI=1S/C62H90N13O14P.C10H12N5O3.Co/c1-29-20-39-40(21-30(29)2)75(28-70-39)57-52(84)53(41(27-76)87-57)89-90(85,86)88-31(3)26-69-49(83)18-19-59(8)37(22-46(66)80)56-62(11)61(10,25-48(68)82)36(14-17-45(65)79)51(74-62)33(5)55-60(9,24-47(67)81)34(12-15-43(63)77)38(71-55)23-42-58(6,7)35(13-16-44(64)78)50(72-42)32(4)54(59)73-56;1-4-6(16)7(17)10(18-4)15-3-14-5-8(11)12-2-13-9(5)15;/h20-21,23,28,31,34-37,41,52-53,56-57,76,84H,12-19,22,24-27H2,1-11H3,(H15,63,64,65,66,67,68,69,71,72,73,74,77,78,79,80,81,82,83,85,86);2-4,6-7,10,16-17H,1H2,(H2,11,12,13);/q;;+2/p-2/t31-,34-,35-,36-,37+,41-,52-,53-,56-,57+,59-,60+,61+,62+;4-,6-,7-,10-;/m11./s1 ZIHHMGTYZOSFRC-OUCXYWSSSA-L 1579.58180 1578.65834 [H][C@]12[C@H](CC(N)=O)[C@@]3(C)CCC(=O)NC[C@@H](C)OP([O-])(=O)O[C@@H]4[C@@H](CO)O[C@@H]([C@@H]4O)n4c[n+](c5cc(C)c(C)cc45)[Co-3]456(C[C@H]7O[C@H]([C@H](O)[C@@H]7O)n7cnc8c(N)ncnc78)N1C3=C(C)C1=[N+]4C(=CC3=[N+]5C(=C(C)C4=[N+]6[C@]2(C)[C@@](C)(CC(N)=O)[C@@H]4CCC(N)=O)[C@@](C)(CC(N)=O)[C@@H]3CCC(N)=O)C(C)(C)[C@@H]1CCC(N)=O HMDB:HMDB0002086|MetaCyc:ADENOSYLCOBALAMIN|Wikipedia:Cobamamide|PMID:12093296|PMID:11792214|PDBeChem:B1Z|CAS:13870-90-1|DrugBank:DB11191|Reaxys:4122932|Beilstein:4122932|Gmelin:439994|PMID:17011224|KEGG:C00194 CHEBI:23340|CHEBI:13739|CHEBI:3797 chebi_ontology owl:Class CHEBI:23334 biolink:NamedThing cobalamins tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class GO:0070664 biolink:NamedThing negative regulation of leukocyte proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of leukocyte proliferation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of leukocyte proliferation|inhibition of leukocyte proliferation|downregulation of leukocyte proliferation|down regulation of leukocyte proliferation mah 2009-05-28T05:34:50Z biological_process owl:Class GO:0008285 biolink:NamedThing negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of cell proliferation|down-regulation of cell proliferation|down regulation of cell proliferation|inhibition of cell proliferation|downregulation of cell proliferation biological_process owl:Class GO:0040014 biolink:NamedThing regulation of multicellular organism growth Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size. tmpxe7fu0cj_hp_relaxed.owl regulation of body size|regulation of body growth biological_process owl:Class GO:0048638 biolink:NamedThing regulation of developmental growth Any process that modulates the frequency, rate or extent of developmental growth. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009484 biolink:NamedThing Deviation of the hand or of fingers of the hand Displacement of the hand or of fingers of the hand from their normal position. tmpxe7fu0cj_hp_relaxed.owl Displaced hand or fingers of the hand UMLS:C4024338 doelkens 2009-01-15T10:45:01Z human_phenotype owl:Class HP:0003448 biolink:NamedThing Decreased sensory nerve conduction velocity Reduced speed of conduction of the action potential along a sensory nerve. tmpxe7fu0cj_hp_relaxed.owl Decreased sensory nerve conduction velocities|Decreased sensory NCV UMLS:C1849148 The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibres by the applied electrical impulse. HP:0006914 human_phenotype owl:Class HP:0000762 biolink:NamedThing Decreased nerve conduction velocity A reduction in the speed at which electrical signals propagate along the axon of a neuron. tmpxe7fu0cj_hp_relaxed.owl Decreased nerve conduction velocities|Delayed nerve conduction velocity|Slow nerve conduction velocity|Decreased NCV|Slowed nerve conduction velocities|Reduced nerve conduction velocities UMLS:C1857640 Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy. HP:0007231|HP:0007118|HP:0007218|HP:0000761 human_phenotype owl:Class UBERON:0002202 biolink:NamedThing submucosa of trachea A submucosa that is part of a trachea. tmpxe7fu0cj_hp_relaxed.owl tracheal submucosa|trachea submucosa|windpipe submucosa|submucosa of windpipe|submucous layer of trachea FMA:7472|BTO:0002115|UMLS:C0225586|NCIT:C49307|MA:0001860|EMAPA:35879 uberon owl:Class HP:0011058 biolink:NamedThing Generalized periodontitis A generalized form of periodontitis. tmpxe7fu0cj_hp_relaxed.owl Widespread gum disease|Generalized gum disease|Generalised gum disease|Generalised periodontal disease|Generalized periodontal disease|Generalised periodontitis UMLS:C4023560|UMLS:C4280345 peter 2011-03-10T12:23:22Z human_phenotype owl:Class HP:0000704 biolink:NamedThing Periodontitis Inflammation of the periodontium. tmpxe7fu0cj_hp_relaxed.owl Pyorrhea|Gum disease|Periodontal disease SNOMEDCT_US:18718003|MSH:D005882|UMLS:C0031099|UMLS:C0031090|UMLS:C0017563|MSH:D010510|SNOMEDCT_US:41565005|MSH:D010518|SNOMEDCT_US:2556008 HP:0006301|HP:0000165 owl:Class UBERON:0005626 biolink:NamedThing ventral mesogastrium Portion of ventral mesentery closest to the stomach. tmpxe7fu0cj_hp_relaxed.owl foregut ventral mesentery TAO:0005133|UMLS:C1519967|NCIT:C34327|MA:0001621|VHOG:0000351|EHDAA2:0002176|ZFA:0005133|EHDAA:3005|EMAPA:17026 "The primitive gut is enveloped by a mesentery that has a dorsal and a ventral aspect. The ventral mesentery degenerates during development with the exception of the foregut ventral mesentery, which develops into specialized structures (see foregut embryology)." [http://sprojects.mmi.mcgill.ca/embryology/gi/pgm.htm]. todo - check http://upload.wikimedia.org/wikipedia/commons/c/cf/Gray984.png uberon owl:Class The mesentery that originates from the ventral side of the peritoneal cavity.[TAO]|The ventral sheet of the primitive mesentery that encloses the stomach. The lesser omentum develops from the ventral mesogastrium. [TFD][VHOG] UBERON:0003281 biolink:NamedThing mesentery of stomach The portion of the primitive mesentery that encloses the stomach; from its dorsal sheet, the greater omentum develops, and from its ventral sheet, the lesser omentum. tmpxe7fu0cj_hp_relaxed.owl mesogaster|mesogastrium|stomach mesentery|ventriculus mesentery|mesogastium|mesentery of ventriculus EHDAA2:0001922|VHOG:0000358|EMAPA:17024|MA:0001617|EHDAA:2999 TODO - check primitive vs developed uberon owl:Class The portion of the primitive mesentery that encloses the stomach; from its dorsal sheet, the greater omentum develops, and from its ventral sheet, the lesser omentum. [TFD][VHOG] HP:0008046 biolink:NamedThing Abnormal retinal vascular morphology A structural abnormality of retinal vasculature. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the retinal vasculature|Abnormality of retina blood vessels UMLS:C4024753 peter 2008-04-02T12:09:00Z human_phenotype owl:Class UBERON:0000479 biolink:NamedThing tissue Multicellular anatomical structure that consists of many cells of one or a few types, arranged in an extracellular matrix such that their long-range organisation is at least partly a repetition of their short-range organisation. tmpxe7fu0cj_hp_relaxed.owl tissue portion|portion of tissue|simple tissue TAO:0001477|EMAPA:35868|BILA:0000043|FBbt:00007003|HAO:0000043|ZFA:0001477|MA:0003002|NCIT:C12801|MESH:D014024|TGMA:0001844|FMA:9637|AEO:0000043|CARO:0000043|UMLS:C0040300|AAO:0000607|WBbt:0005729|BIRNLEX:19|XAO:0003040|AAO:0010054|VHOG:0001757|galen:Tissue|CALOHA:TS-2090|EHDAA2:0003043 changed label and definition to reflect CARO2 uberon owl:Class GO:1905903 biolink:NamedThing negative regulation of mesoderm formation Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm formation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of mesoderm formation|downregulation of mesoderm formation|inhibition of mesoderm formation|down regulation of mesoderm formation rph 2017-02-03T12:28:29Z biological_process owl:Class GO:0050910 biolink:NamedThing detection of mechanical stimulus involved in sensory perception of sound tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0050877 biolink:NamedThing nervous system process A organ system process carried out by any of the organs or tissues of neurological system. tmpxe7fu0cj_hp_relaxed.owl neurological system process|neurophysiological process|pan-neural process https://github.com/geneontology/go-ontology/issues/13824 biological_process owl:Class GO:1990234 biolink:NamedThing transferase complex A protein complex capable of catalyzing the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). tmpxe7fu0cj_hp_relaxed.owl bhm 2013-11-12T13:20:12Z cellular_component owl:Class HP:0030497 biolink:NamedThing Macular cotton wool spot Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072985 Cotton-wool spots (CWSs) are common retinal manifestations of many diseases including diabetes mellitus, systemic hypertension, and acquired immunodeficiency syndrome. owl:Class HP:0032043 biolink:NamedThing Odynophagia Pain experienced with swallowing. tmpxe7fu0cj_hp_relaxed.owl Painful swallowing 2018-09-16 10:35:02+00:00 peter owl:Class HP:0012719 biolink:NamedThing Functional abnormality of the gastrointestinal tract Abnormal functionality of the gastrointestinal tract. tmpxe7fu0cj_hp_relaxed.owl Functional abnormality of the GI tract|GI dysfunction UMLS:C4022755 peter 2014-03-23T01:10:47Z human_phenotype owl:Class UBERON:0004914 biolink:NamedThing duodenal papilla One of the two small elevations on the mucosa of the duodenum, the major at the entrance of the conjoined pancreatic and common bile ducts and the minor at the entrance of the accessory pancreatic duct. tmpxe7fu0cj_hp_relaxed.owl papilla of duodenum|papilla duodeni|papilla duodenalis MA:0003107|EMAPA:18662|FMA:15953|NCIT:C119578 http://upload.wikimedia.org/wikipedia/commons/4/43/Gray1057.png uberon owl:Class HP:0025362 biolink:NamedThing Renal medullary pyramid hypoplasia Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of the medullary pyramids 2017-02-20 13:16:42+00:00 HPO:probinson owl:Class HP:0025361 biolink:NamedThing Abnormality of medullary pyramid morphology A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. tmpxe7fu0cj_hp_relaxed.owl 2017-02-20 13:15:23+00:00 HPO:probinson owl:Class UBERON:0011932 biolink:NamedThing pilosebaceous unit An epidermal invagination that has as parts a hair follicle, a sebaceous gland, and arrector pili muscle. tmpxe7fu0cj_hp_relaxed.owl fabrica pilosebacea|pilosebaceous gland|pilosebaceous apparatus|pilo-sebaceous unit|pilo-sebaceous apparatus EMAPA:36582|FMA:70661 uberon owl:Class UBERON:0004893 biolink:NamedThing interalveolar septum A the thin septum that separates adjacent pulmonary alveoli, containing connective tissue constituents of the respiratory tissue and the capillary network of the blood supply of the lung. tmpxe7fu0cj_hp_relaxed.owl alveolar septum|septum interalveolare UMLS:C1706784|MA:0000421|BTO:0003149|EMAPA:35433|NCIT:C49473 uberon owl:Class UBERON:0003037 biolink:NamedThing septum A wall, dividing a cavity or structure into smaller ones[WP]. tmpxe7fu0cj_hp_relaxed.owl septa AAO:0011127|OpenCyc:Mx4rrqot_on_EdaAAAACs0uFOQ|Wikipedia:Septum|FMA:86461 general anatomical term in FMA uberon owl:Class septal HP:0002024 biolink:NamedThing Malabsorption Impaired ability to absorb one or more nutrients from the intestine. tmpxe7fu0cj_hp_relaxed.owl Intestinal malabsorption|Malabsorption UMLS:C3714745 HP:0008270 human_phenotype owl:Class UBERON:0001862 biolink:NamedThing vestibular labyrinth The part of the membranous labyrinth that includes the utricle and saccule lodged within the vestibule and the semicircular ducts lodged eccentrically in the corresponding canals. tmpxe7fu0cj_hp_relaxed.owl vestibular component|inner ear vestibular component|labyrinthus vestibularis|vestibular apparatus EHDAA:4706|XAO:0004145|BTO:0001856|EHDAA2:0000832|FMA:61255|UMLS:C0042606|EMAPA:17286|NCIT:C33871|EMAPA:17815|MA:0000245|CALOHA:TS-0479 uberon owl:Class GO:1904778 biolink:NamedThing positive regulation of protein localization to cell cortex Any process that activates or increases the frequency, rate or extent of protein localization to cell cortex. tmpxe7fu0cj_hp_relaxed.owl up regulation of protein localization to cell cortex|activation of protein localisation to cell cortex|upregulation of protein localisation to cell cortex|positive regulation of protein localisation to cell cortex|up-regulation of protein localisation to cell cortex|up-regulation of protein localization to cell cortex|activation of protein localization to cell cortex|up regulation of protein localisation to cell cortex|upregulation of protein localization to cell cortex An example is cye-1 in C. elegans, UniProt ID O01501 in PMID:17115027. es 2015-10-29T16:55:15Z biological_process owl:Class UBERON:0007257 biolink:NamedThing intervertebral disk of sacral vertebra An intervertebral disk that is part of a sacral region of vertebral column. A sacral intervertebral disk connects at least one sacral vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a sacral vertebra. tmpxe7fu0cj_hp_relaxed.owl intervertebral disc of sacral region FMA:268676|EMAPA:19575 uberon owl:Class UBERON:0005174 biolink:NamedThing dorsal region element An organ or element that part of the dorsum of the organism. Examples: spinal cord, vertebrae, muscles of back. tmpxe7fu0cj_hp_relaxed.owl back organ|dorsal region organ MA:0001901|EMAPA:37274 uberon owl:Class UBERON:0002062 biolink:NamedThing endocardial cushion The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves[GO]. Swellings of tissue present between the endocardial and myocardial cell layers that will give rise to the interstitial cells of the cardiac valves[ZFA]. tmpxe7fu0cj_hp_relaxed.owl atrioventricular canal cushion|cardiac cushion|endocardial cushions|AV cushion|endocardial cushion tissue|atrioventricular cushion ZFA:0001317|VHOG:0000932|EHDAA2:0000434|TAO:0001317|FMA:70302|XAO:0004189|EHDAA:2586|MA:0000078|Wikipedia:Atrioventricular_cushions|EMAPA:16696|EHDAA2:0004028 GO graph seems to suggest this is an endothelium. WP: The endocardial cushions are thought to arise from a subset of endothelial cells that undergo epithelial to mesenchymal transformation, a process whereby these cells break cell-to-cell contacts and migrate into the cardiac jelly (towards to interior of the heart tube). Latest (2010-06-01) new def suggested for GO, added above. Note that EHDAA2 has a more detailed model which we may later adopt. JB: Patterning makes the cushions lay down connective tissue in three domains that force out the local endothelial lining and so the leaflets form http://upload.wikimedia.org/wikipedia/commons/c/c7/Gray465.png uberon owl:Class Swellings of tissue present between the endocardial and myocardial cell layers that will give rise to the interstitial cells of the cardiac valves.[TAO] relationship loss: develops_from endocardial ring (TAO:0005072)[TAO] (Cardiac valve formation in vertebrates) In response to a myocardial signal, endocardial cells at chamber boundaries take on a mesenchymal character, delaminate and migrate into the cardiac jelly. There, they form an endocardial cushion that is later remodelled into a valve.[well established][VHOG] HP:0031457 biolink:NamedThing Pulmonary opacity Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 15:59:06+00:00 Increased pulmonary opacity is caused by a decrease in the ratio of gas to soft tissue (blood, lung parenchyma and stroma) in the lung. peter owl:Class HP:0031983 biolink:NamedThing Abnormal pulmonary thoracic imaging finding This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density. tmpxe7fu0cj_hp_relaxed.owl Abnormal chest radiograph finding (lung) 2018-07-08 13:38:01+00:00 peter owl:Class CL:0000531 biolink:NamedThing primary sensory neuron tmpxe7fu0cj_hp_relaxed.owl cell owl:Class CL:0000530 biolink:NamedThing primary neuron tmpxe7fu0cj_hp_relaxed.owl cell owl:Class GO:0097120 biolink:NamedThing receptor localization to synapse Any process in which a receptor is transported to, and/or maintained at the synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. tmpxe7fu0cj_hp_relaxed.owl receptor localisation to synapse pr 2011-07-31T09:20:30Z biological_process owl:Class GO:0031503 biolink:NamedThing protein-containing complex localization A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. tmpxe7fu0cj_hp_relaxed.owl cellular protein complex localization|establishment and maintenance of protein complex localization|protein complex localisation|establishment and maintenance of cellular protein complex localization|cellular protein-containing complex localization|protein complex localization|cellular protein complex localisation https://github.com/geneontology/go-ontology/issues/22021 GO:0034629 biological_process owl:Class HP:0000297 biolink:NamedThing Facial hypotonia Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). tmpxe7fu0cj_hp_relaxed.owl Decreased facial muscle tone|Atony of facial musculature|Low facial muscle tone|Reduced facial muscle tone|Hypotonic facies UMLS:C1845251|UMLS:C4280646 human_phenotype owl:Class UBERON:0004377 biolink:NamedThing distal metaphysis A metaphysis that is in the distal side of a diaphysis. tmpxe7fu0cj_hp_relaxed.owl distal diaphyseal end of long bone FMA:32824 uberon owl:Class UBERON:0001438 biolink:NamedThing metaphysis Zone of long bone that is between the epiphysis and diaphysis. Subdivision of diaphysis which forms the proximal or distal end of diaphysis next to the epiphysis; together with diaphysis proper, it constitutes the diaphysis. Examples: proximal metaphysis of humerus, distal metaphysis of femur.[FMA]. tmpxe7fu0cj_hp_relaxed.owl metaphyses|diaphyseal end of long bone|long bone metaphysis EMAPA:35509|UMLS:C0222671|FMA:24014|MA:0001363|NCIT:C52723 todo - decide - adjacent to or containing epiphyseal plate? AO Notes: FMA the metaphysis is part of the diaphysis, but not in MA. uberon owl:Class Subdivision of diaphysis which forms the proximal or distal end of diaphysis next to the epiphysis; together with diaphysis proper, it constitutes the diaphysis. Examples: proximal metaphysis of humerus, distal metaphysis of femur.[FMA] HP:0410323 biolink:NamedThing Drug allergy Hypersensitivity in form of an adverse immune reaction against drugs. tmpxe7fu0cj_hp_relaxed.owl Allergy to drugs|IgE-mediated drug allergy|Immunoglobulin E-mediated drug allergy|Drug allergy owl:Class HP:0012393 biolink:NamedThing Allergy An allergy is an immune response or reaction to substances that are usually not harmful. tmpxe7fu0cj_hp_relaxed.owl Allergy MSH:D006967|SNOMEDCT_US:419076005|UMLS:C1527304 peter 2013-11-07T07:47:22Z owl:Class UBERON:0001081 biolink:NamedThing endocardium of ventricle Endocardium that is part of the cardiac ventricle. tmpxe7fu0cj_hp_relaxed.owl cardiac ventricle endocardium|lower chamber of heart endocardium|ventricle endocardium|ventricular endocardium|endocardium of heart ventricle|heart ventricle endocardium|endocardium of cardiac ventricle|ventricle of heart endocardium|endocardium of ventricle of heart|endocardium of lower chamber of heart|ventricle endocardial tissue EMAPA:32747|SCTID:192172004|MA:0000079|TAO:0002247|FMA:12148|ZFA:0001615|VHOG:0000607 uberon owl:Class HP:0100627 biolink:NamedThing Displacement of the urethral meatus A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). tmpxe7fu0cj_hp_relaxed.owl Displacement of the external urethral orifice|Displacement of the male external urethral orifice UMLS:C4020961 Congenital misplacement of the urethral orifice is called hypospadias when it is located in the underside (ventral aspect) of the penis, and epispadias when located in the dorsum (upper aspect). doelkens 2010-12-28T05:02:59Z human_phenotype owl:Class HP:0032076 biolink:NamedThing Abnormal male urethral meatus morphology tmpxe7fu0cj_hp_relaxed.owl 2018-10-14 13:36:20+00:00 peter owl:Class GO:1901624 biolink:NamedThing negative regulation of lymphocyte chemotaxis Any process that stops, prevents or reduces the frequency, rate or extent of lymphocyte chemotaxis. tmpxe7fu0cj_hp_relaxed.owl inhibition of lymphocyte chemotaxis|down-regulation of lymphocyte chemotaxis|down regulation of lymphocyte chemotaxis|downregulation of lymphocyte chemotaxis tb 2012-11-13T23:03:28Z biological_process owl:Class CHEBI:25830 biolink:NamedThing p-quinones A quinone in which the two oxo groups of the quinone are located para to each other on the 6-membered quinonoid ring. tmpxe7fu0cj_hp_relaxed.owl p-quinone|para-quinones chebi_ontology owl:Class CHEBI:36141 biolink:NamedThing quinone Compounds having a fully conjugated cyclic dione structure, such as that of benzoquinones, derived from aromatic compounds by conversion of an even number of -CH= groups into -C(=O)- groups with any necessary rearrangement of double bonds (polycyclic and heterocyclic analogues are included). tmpxe7fu0cj_hp_relaxed.owl Chinon|quinone|quinones Wikipedia:Quinone CHEBI:26517|CHEBI:13684 chebi_ontology owl:Class HP:0002416 biolink:NamedThing Subependymal cysts Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life. tmpxe7fu0cj_hp_relaxed.owl Subependymal germinolytic cyst|Subependymal pseudocyst UMLS:C1833431 In the vast majority of cases, a simple persistence of the germinal matrix is proposed to explain their presence in asymptomatic preterm neonates. Viral infections, mainly with CMV and rubella, are commonly found when the pseudocysts are associated with other abnormalities of the central nervous system. The pseudocysts are then often multilocular. owl:Class HP:0010576 biolink:NamedThing Intracranial cystic lesion A cystic lesion originating within the brain. tmpxe7fu0cj_hp_relaxed.owl Cerebral cystic malformation UMLS:C4021250 sandra1 2009-10-22T01:38:49Z human_phenotype owl:Class HP:0011959 biolink:NamedThing Unilateral hypoplasia of pectoralis major muscle Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped pec muscle on one side|Small pec muscle on one side UMLS:C4023107 peter 2012-06-22T08:13:12Z human_phenotype owl:Class HP:0011957 biolink:NamedThing Abnormal pectoral muscle morphology An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major. tmpxe7fu0cj_hp_relaxed.owl Abnormal pec muscles UMLS:C4023108 peter 2012-06-22T08:06:04Z human_phenotype owl:Class UBERON:0002377 biolink:NamedThing muscle of neck Any muscle that is part of the cervical (neck) region. tmpxe7fu0cj_hp_relaxed.owl muscle organ of neck (volume)|neck muscle organ|neck muscle|muscle organ of neck|neck (volume) muscle organ FMA:9617|NCIT:C33163|MA:0000587|UMLS:C0027532|EMAPA:36050|MESH:D009334|GAID:149 uberon owl:Class CHEBI:21622 biolink:NamedThing N-acetylneuraminic acids tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:22160 biolink:NamedThing acetamides Compounds with the general formula RNHC(=O)CH3. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:33340 biolink:NamedThing zinc group element atom tmpxe7fu0cj_hp_relaxed.owl zinc group element|zinc group elements|group 12 elements chebi_ontology owl:Class CHEBI:33561 biolink:NamedThing d-block element atom tmpxe7fu0cj_hp_relaxed.owl d-block elements|d-block element chebi_ontology owl:Class HP:0033959 biolink:NamedThing Cortical radial artery intima/media arteriosclerosis Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina. tmpxe7fu0cj_hp_relaxed.owl Arteriosclerosis within interlobular arterial intima/media 2021-06-24 12:33:40+00:00 peter owl:Class HP:0033888 biolink:NamedThing Abnormal cortical radial artery intima/media morphology Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney. tmpxe7fu0cj_hp_relaxed.owl Abnormalities of the interlobular arterial intima/media 2021-06-23 22:00:14+00:00 peter owl:Class HP:0010180 biolink:NamedThing Triangular shaped phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Triangular shaped toe bones UMLS:C4023983 doelkens 2009-05-29T01:39:26Z human_phenotype owl:Class UBERON:0004148 biolink:NamedThing cardiac vein Vein of heart that drains the myocardium. tmpxe7fu0cj_hp_relaxed.owl vein of heart|coronary vein|cardiac vein|heart vein SCTID:277726009|UMLS:C0226654|galen:CoronaryVein|NCIT:C12878|FMA:12846|ZFA:0005814|EHDAA2:0004507|NCIT:C12882|EMAPA:37137|Wikipedia:Coronary_circulation|UMLS:C0226737 uberon owl:Class HP:0000272 biolink:NamedThing Malar flattening Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. tmpxe7fu0cj_hp_relaxed.owl Underdevelopment of malar bone|Flat cheekbone|Malar hypoplasia|Zygomatic flattening|Hypotrophic malar bone|Depressed malar region|Decreased size of malar bone UMLS:C4280651|UMLS:C1858085 The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. HP:0004671|HP:0000312|HP:0004642|HP:0000332|HP:0004658|HP:0100846|HP:0005455|HP:0005443|HP:0005319 human_phenotype owl:Class HP:0012369 biolink:NamedThing Abnormality of malar bones An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla. tmpxe7fu0cj_hp_relaxed.owl Anomaly of the malar bones|Deformity of the malar bones|Malar anomaly|Malformation of the malar bones UMLS:C4022926 The malar bones are a confluence of the convex prominence of the zygomatic bone known as the malar surface, along with the malar process (most medial and superior part) of the maxilla. It forms the medial border of the inferior bony orbit, and is contiguous with the lateral boundary of the nasal bridge. peter 2013-10-13T02:37:51Z human_phenotype owl:Class GO:0048660 biolink:NamedThing regulation of smooth muscle cell proliferation Any process that modulates the frequency, rate or extent of smooth muscle cell proliferation. tmpxe7fu0cj_hp_relaxed.owl regulation of SMC proliferation biological_process owl:Class HP:0008258 biolink:NamedThing Congenital adrenal hyperplasia A type of adrenal hyperplasia with congenital onset. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:237751000|MSH:D000312|UMLS:C0001627 human_phenotype owl:Class HP:0008221 biolink:NamedThing Adrenal hyperplasia Enlargement of the adrenal gland. tmpxe7fu0cj_hp_relaxed.owl Enlarged adrenal glands UMLS:C1621895|SNOMEDCT_US:419920004 human_phenotype owl:Class HP:0031749 biolink:NamedThing Abnormal lateral rectus muscle physiology A functional anomaly of the lateral rectus muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:19:56+00:00 The lateral rectus muscle is responsible for abduction of the globe (moving the eyeball away from the nose). peter owl:Class HP:0031740 biolink:NamedThing Abnormal horizontal rectus muscle physiology A functional anomaly of the medial rectus muscle or lateral rectus muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 13:56:55+00:00 peter owl:Class CL:0002001 biolink:NamedThing CD34-positive, CD38-positive granulocyte monocyte progenitor A granulocyte monocyte progenitor is CD34-positive, CD38-positive, IL-3receptor-alpha-positive and is CD45RA-negative. tmpxe7fu0cj_hp_relaxed.owl Markers are for human cells. According to different research groups, CD45RA is present or absent on this cell population. tmeehan 2010-01-13T03:19:22Z cell owl:Class CL:0000557 biolink:NamedThing granulocyte monocyte progenitor cell A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1. tmpxe7fu0cj_hp_relaxed.owl CFU-GM|colony forming unit granulocyte macrophage|granulocyte-macrophage progenitor|granulocyte/monocyte progenitor|granulocyte/monocyte precursor|CFU-C , Colony forming unit in culture|GMP Originally described in the dendritic cell ontology (DC_CL:0000042)(PMID:19243617). GMPs are reportedly CD16-positive, CD32-positive, CD34-positive, CD38-positive, CD45RA-positive, CD110-negative, CD117-positive, CD123-positive, and SCA1-negative. cell owl:Class UBERON:0004533 biolink:NamedThing left testis A testis that is in the left side of the genitalia [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl left testicle UMLS:C0227998|MA:0001746|NCIT:C49323|FMA:7212|EMAPA:37370 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0000473 biolink:NamedThing testis A gonad of a male animal. A gonad produces and releases sperm. tmpxe7fu0cj_hp_relaxed.owl gonad of male reproductive system|testiculus|orchis|testicle|gonad of male genitalia|testes|male gonad MAT:0000132|XAO:0000157|WBbt:0006794|EV:0100102|MIAA:0000132|EFO:0000984|EHDAA2:0002007|ZFA:0000598|BILA:0000124|HAO:0001007|VHOG:0000252|BSA:0000085|TAO:0000598|AAO:0000606|BTO:0001363|galen:Testis|GAID:396|UMLS:C0039597|EMAPA:17972|FBbt:00004928|MA:0000411|OpenCyc:Mx4rvVjM25wpEbGdrcN5Y29ycA|NCIT:C12412|MESH:D013737|FMA:7210|EHDAA:8146|CALOHA:TS-1030 http://upload.wikimedia.org/wikipedia/commons/c/c3/Gray1144.png UBERON:0002117 uberon owl:Class Male reproductive organ.[TAO] (...) while it is likely that Urbilateria lacked a complex somatic reproductive system, it is at present impossible to speculate on whether or not it possessed a true gonad, let alone any other somatic adaptations for reproduction (reference 1); Examination of different vertebrate species shows that the adult gonad is remarkably similar in its morphology across different phylogenetic classes. Surprisingly, however, the cellular and molecular programs employed to create similar organs are not evolutionarily conserved (reference 2).[uncertain][VHOG] testicular The testes are descended in metatherian and eutherian mammals, first transabdominally, then inguinoscrotally HP:0012397 biolink:NamedThing Aortic atherosclerotic lesion The presence of atheromas or atherosclerotic plaques in the aorta. tmpxe7fu0cj_hp_relaxed.owl Atherosclerosis of the aorta|Plaque build-up in aorta artery|Aortic atherosclerosis|Atherosclerotic changes of aorta SNOMEDCT_US:81817003|UMLS:C0155733 peter 2013-11-07T08:04:30Z human_phenotype owl:Class NBO:0000388 biolink:NamedThing involuntary movement behavior "Behavior related to movements that occur independent of planning." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-04-06T02:35:38Z Movevents listed here are involuntary, but may be also generated by free will, like blinking of the eyelids and respiratory movements. George Gkoutos behavior_ontology owl:Class NBO:0000001 biolink:NamedThing body part movement A change of place or position of part of an organism that does not involve the entire organism [NBO:SMAC] tmpxe7fu0cj_hp_relaxed.owl stationary movement 2011-04-14T01:03:39Z George Gkoutos behavior_ontology owl:Class GO:0006690 biolink:NamedThing icosanoid metabolic process The chemical reactions and pathways involving icosanoids, any of a group of C20 polyunsaturated fatty acids. tmpxe7fu0cj_hp_relaxed.owl icosanoid metabolism|eicosanoid metabolic process|eicosanoid metabolism biological_process owl:Class GO:0019752 biolink:NamedThing carboxylic acid metabolic process The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). tmpxe7fu0cj_hp_relaxed.owl carboxylic acid metabolism biological_process owl:Class UBERON:0002324 biolink:NamedThing muscle of back Any muscle organ that is part of a back [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl back muscle|muscle organ of back|back muscle organ MA:0000496|EMAPA:35161|FMA:85216 uberon owl:Class HP:0001805 biolink:NamedThing Onychogryposis Nail that appears thick when viewed on end. tmpxe7fu0cj_hp_relaxed.owl Thick nail|Dystrophic thickened nails|Thickened nails UMLS:C0263537|SNOMEDCT_US:52897009 There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. Onychauxis and onychogryposis are dystrophic diseases of the nail in which the nail plate becomes decidedly hypertrophied. The differentiation of the two entities is only one of degree of severity. HP:0001819|HP:0200088 owl:Class HP:0006471 biolink:NamedThing Fixed elbow flexion tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025044 human_phenotype owl:Class HP:0006376 biolink:NamedThing Limited elbow flexion tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856922 human_phenotype owl:Class HP:0000138 biolink:NamedThing Ovarian cyst The presence of one or more cysts of the ovary. tmpxe7fu0cj_hp_relaxed.owl Ovarian cyst|Cystic ovaries|Ovarian cystic abnormality|Cystic abnormalities of the ovaries UMLS:C0029927|SNOMEDCT_US:79883001|MSH:D010048 HP:0000146 human_phenotype owl:Class HP:0031065 biolink:NamedThing Abnormal ovarian morphology tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 22:32:58+00:00 peter owl:Class GO:1903542 biolink:NamedThing negative regulation of exosomal secretion Any process that stops, prevents or reduces the frequency, rate or extent of exosomal secretion. tmpxe7fu0cj_hp_relaxed.owl inhibition of extracellular vesicular exosome secretion|down-regulation of extracellular vesicular exosome secretion|down regulation of exosomal secretory pathway|down regulation of exosomal protein secretion|down regulation of secretion of exosome|downregulation of exosomal secretion|down-regulation of exosomal secretory pathway|down-regulation of exosomal secretion|downregulation of extracellular vesicular exosome secretion|negative regulation of extracellular vesicular exosome secretion|down-regulation of secretion of exosome|downregulation of exosomal secretory pathway|inhibition of exosomal secretion|inhibition of exosomal protein secretion|downregulation of exosomal protein secretion|negative regulation of exosomal protein secretion|negative regulation of exosomal secretory pathway|inhibition of exosomal secretory pathway|down-regulation of exosomal protein secretion|negative regulation of secretion of exosome|downregulation of secretion of exosome|down regulation of exosomal secretion|down regulation of extracellular vesicular exosome secretion|inhibition of secretion of exosome pga 2014-10-14T11:39:02Z biological_process owl:Class GO:0045920 biolink:NamedThing negative regulation of exocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of exocytosis. tmpxe7fu0cj_hp_relaxed.owl down-regulation of exocytosis|downregulation of exocytosis|down regulation of exocytosis|inhibition of exocytosis biological_process owl:Class HP:0010990 biolink:NamedThing Abnormality of the common coagulation pathway An abnormality of blood coagulation, common pathway. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023609 The common pathway is a protein activation cascade that contributes to blood coagulation and consists of events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the formation of cleaved fibrin into a stable multimeric, cross-linked complex. peter 2011-02-08T04:31:53Z human_phenotype owl:Class HP:0003256 biolink:NamedThing Abnormality of the coagulation cascade An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. tmpxe7fu0cj_hp_relaxed.owl Coagulopathy MSH:D001778|SNOMEDCT_US:64779008|UMLS:C0005779|SNOMEDCT_US:362970003 HP:0001925 human_phenotype owl:Class GO:0030320 biolink:NamedThing cellular monovalent inorganic anion homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic anions at the level of a cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0019725 biolink:NamedThing cellular homeostasis Any process involved in the maintenance of an internal steady state at the level of the cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0097355 biolink:NamedThing protein localization to heterochromatin Any process in which a protein is transported to, or maintained at, a part of a chromosome that is organized into heterochromatin. tmpxe7fu0cj_hp_relaxed.owl protein localisation to heterochromatin pr 2012-07-03T03:19:07Z biological_process owl:Class UBERON:0002382 biolink:NamedThing rectus abdominis muscle The rectus abdominis muscle is a paired muscle running vertically on each side of the anterior wall of the abdomen. There are two parallel sets of muscles, separated by a midline band of connective tissue called the linea alba (white line). It extends from the pubic symphysis/pubic crest inferiorly to the xiphisternum/xiphoid process and lower costal cartilages (5-7) superiorly. It is contained in the Rectus sheath. The rectus is usually crossed by three fibrous bands licked by the tendinous inscriptions. [WP,modified]. tmpxe7fu0cj_hp_relaxed.owl m. rectus abdominis|rectus abdominis|musculus rectus abdominis EMAPA:18164|MESH:D017568|MA:0002364|EHDAA:8252|AAO:0010789|FMA:9628|EHDAA2:0001595|GAID:142|VHOG:0000863|NCIT:C33449|UMLS:C0206066|XAO:0004128 Rectus:abdominis.png uberon owl:Class While the 'sixpack' is by far the most common configuration of the muscle bellies of the rectus, there exist rare anatomic variations which result in the appearance of eight ('eightpack'), ten, or-even rarer-asymmetrically arranged segments. All these variations are functionally equivalent HP:0031588 biolink:NamedThing Unhappy demeanor A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events. tmpxe7fu0cj_hp_relaxed.owl Unhappy demeanour 2017-10-14 13:22:11+00:00 peter owl:Class UBERON:0013697 biolink:NamedThing exocrine pancreas epithelium Epithelium lining the exocrine pancreas. tmpxe7fu0cj_hp_relaxed.owl exocrine pancreas epithelial cell|epithelium of exocrine pancreas CALOHA:TS-2108 uberon owl:Class UBERON:0005911 biolink:NamedThing endo-epithelium Epithelium that derives from the endoderm. Examples: urothelium, transitional epithelium of ureter, epithelium of prostatic gland.[FMA]. tmpxe7fu0cj_hp_relaxed.owl endoderm-derived epithelium|endoepithelium FMA:69065 uberon owl:Class HP:0011046 biolink:NamedThing Agenesis of primary maxillary central incisor Agenesis of upper central primary incisor. tmpxe7fu0cj_hp_relaxed.owl Absence of deciduous maxillary central incisor|Failure of development of deciduous maxillary central incisor|Failure of development of primary maxillary central incisor|Missing upper front milk tooth|Missing deciduous maxillary central incisor|Missing upper front baby tooth|Absence of upper front baby tooth|Absence of primary maxillary central incisor|Missing primary maxillary central incisor|Agenesis of deciduous maxillary central incisor UMLS:C4023571|UMLS:C4280357 This feature is to be distinguished from single central upper incisor, which is median. peter 2011-03-10T11:21:41Z human_phenotype owl:Class HP:0006293 biolink:NamedThing Agenesis of maxillary central incisor Agenesis of upper secondary incisor or of upper central primary incisor. tmpxe7fu0cj_hp_relaxed.owl Failure of development of maxillary central incisor|Missing maxillary central incisor|Absence of maxillary central incisor|Missing upper central incisor UMLS:C4025068|UMLS:C4280458 human_phenotype owl:Class UBERON:0000331 biolink:NamedThing ileal mucosa A mucosa that is part of a ileum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl ileum mucous membrane|mucous membrane of ileum|ileal mucous membrane|ileum organ mucosa|mucosa of organ of ileum|ileum mucosa|mucosa of ileum|ileum mucosa of organ|organ mucosa of ileum CALOHA:TS-0470|BTO:0000619|MA:0003216|EMAPA:35424|FMA:14956 uberon owl:Class HP:0031824 biolink:NamedThing Hepatic mastocytosis Liver mast cell infiltration. tmpxe7fu0cj_hp_relaxed.owl 2018-05-01 02:32:38+00:00 peter owl:Class HP:0100495 biolink:NamedThing Mastocytosis The presence of an increased number of mast cells and CD34+ mast cell precursors in the body. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0024899|SNOMEDCT_US:125541005|MSH:D008415|SNOMEDCT_US:397007003 doelkens 2010-12-17T04:06:36Z human_phenotype owl:Class HP:0030054 biolink:NamedThing Perifollicular fibrosis Presence of excess fibrous connective tissue surrounding hair follicules. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2748531 owl:Class GO:0046907 biolink:NamedThing intracellular transport The directed movement of substances within a cell. tmpxe7fu0cj_hp_relaxed.owl single organism intracellular transport|single-organism intracellular transport jl 2013-12-18T14:04:50Z GO:1902582 biological_process owl:Class GO:0051641 biolink:NamedThing cellular localization A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. tmpxe7fu0cj_hp_relaxed.owl intracellular localization|establishment and maintenance of localization in cell or cell membrane|establishment and maintenance of cellular localization|cellular localisation|localization within cell|single-organism cellular localization|single organism cellular localization jl 2013-12-18T14:04:32Z GO:1902580 biological_process owl:Class CL:0002485 biolink:NamedThing retinal melanocyte A melanocyte of the retina. This cell type is distinct from pigmented retinal epithelium. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2010-12-03T03:25:32Z cell owl:Class CL:0000148 biolink:NamedThing melanocyte A pigment cell derived from the neural crest. Contains melanin-filled pigment granules, which gives a brown to black appearance. tmpxe7fu0cj_hp_relaxed.owl melanophore FMA:70545|VHOG:0001679|BTO:0000847|CALOHA:TS-0613 CL:0000572 cell owl:Class GO:0055019 biolink:NamedThing negative regulation of cardiac muscle fiber development Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle fiber development. tmpxe7fu0cj_hp_relaxed.owl negative regulation of heart muscle fiber development|downregulation of cardiac muscle fiber development|down regulation of cardiac muscle fiber development|negative regulation of cardiac muscle fibre development|inhibition of cardiac muscle fiber development|down-regulation of cardiac muscle fiber development biological_process owl:Class UBERON:0011274 biolink:NamedThing nail of manual digit 2 A nail that is part of a manual digit 2. tmpxe7fu0cj_hp_relaxed.owl nail plate of index finger|nail of manual digit II|index finger nail|nail of second finger|claw of digit 2 of fore-paw|nail of index finger FMA:54332|EMAPA:18735 uberon owl:Class GO:0060541 biolink:NamedThing respiratory system development The progression of the respiratory system over time from its formation to its mature structure. The respiratory system carries out respiratory gaseous exchange. tmpxe7fu0cj_hp_relaxed.owl dph 2009-04-10T08:55:42Z biological_process owl:Class CHEBI:36915 biolink:NamedThing inorganic cation tmpxe7fu0cj_hp_relaxed.owl inorganic cations chebi_ontology owl:Class CHEBI:36914 biolink:NamedThing inorganic ion tmpxe7fu0cj_hp_relaxed.owl inorganic ions chebi_ontology owl:Class HP:0006119 biolink:NamedThing Proximal tapering of metacarpals Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance. tmpxe7fu0cj_hp_relaxed.owl Pointed innermost long bone of hand|Pointed proximal metacarpals UMLS:C1854749 human_phenotype owl:Class UBERON:0016854 biolink:NamedThing dorsal part of optic cup The dorsal region of the optic cup that gives rise to the dorsal part of the retina. tmpxe7fu0cj_hp_relaxed.owl dorsal region of optic cup|dorsal optic cup uberon owl:Class UBERON:0004384 biolink:NamedThing epiphysis of femur An epiphysis that is part of a femur [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl femoral epiphysis MA:0003056|EMAPA:37539|FMA:32838 uberon owl:Class HP:0020119 biolink:NamedThing Abnormal retinal nerve fiber layer morphology A structural abnormality of the retinal nerve fiber layer tmpxe7fu0cj_hp_relaxed.owl Abnormal retinal nerve fibre layer morphology The retinal nerve fiber layer consists of unmyelinated ganglion cell axons coursing on the vitreal surface of the retina to the optic disk. These axons become myelinated after entering the optic nerve. robinp 2019-07-02 16:34:14+00:00 owl:Class GO:0090326 biolink:NamedThing positive regulation of locomotion involved in locomotory behavior tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0050789 biolink:NamedThing regulation of biological process Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. tmpxe7fu0cj_hp_relaxed.owl regulation of physiological process GO:0050791 biological_process owl:Class HP:0010212 biolink:NamedThing Flexion contracture of the hallux One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl Joint contracture of the hallux|Joint contracture of the big toe UMLS:C4021311 doelkens 2009-06-02T01:39:18Z human_phenotype owl:Class HP:0009461 biolink:NamedThing Short 3rd finger Hypoplastic/small 3rd (middle) finger. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic/small 3rd finger|Short middle finger|Short 3rd finger UMLS:C4021469 doelkens 2009-01-14T04:57:43Z HP:0004154 human_phenotype owl:Class HP:0009381 biolink:NamedThing Short finger Abnormally short finger associated with developmental hypoplasia. tmpxe7fu0cj_hp_relaxed.owl Stubby fingers|Hypoplastic fingers|Hypoplastic digits|Stubby finger|Short finger|Hypoplastic/small fingers SNOMEDCT_US:249765007|UMLS:C0239594|UMLS:C1844548 doelkens 2009-01-13T01:07:38Z HP:0004098|HP:0006015 human_phenotype owl:Class PATO:0002112 biolink:NamedThing perforate A structural quality inhering in a bearer by virtue of the bearer's having a hole or holes, especially a row or array of small holes. tmpxe7fu0cj_hp_relaxed.owl pierced|permeable 2009-10-05T03:37:05Z PATO:0000649 quality owl:Class HP:0002018 biolink:NamedThing Nausea A sensation of unease in the stomach together with an urge to vomit. tmpxe7fu0cj_hp_relaxed.owl Nausea MEDDRA:10028813|SNOMEDCT_US:422587007|MSH:D009325|UMLS:C0027497 owl:Class HP:0002017 biolink:NamedThing Nausea and vomiting Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. tmpxe7fu0cj_hp_relaxed.owl Nausea and vomiting UMLS:C0027498|SNOMEDCT_US:16932000 owl:Class HP:0004589 biolink:NamedThing Dysplasia of second lumbar vertebra tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025310 human_phenotype owl:Class HP:0003468 biolink:NamedThing Abnormal vertebral morphology An abnormality of one or more of the vertebrae. tmpxe7fu0cj_hp_relaxed.owl Multiple vertebral anomalies|Abnormality of the vertebrae|Abnormal vertebral bodies|Abnormal vertebrae|Vertebral anomalies UMLS:C0158775|UMLS:C4020840|Fyler:4108|SNOMEDCT_US:74877002|SNOMEDCT_US:205043005|UMLS:C4020839 A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone). HP:0005719 human_phenotype owl:Class UBERON:0015172 biolink:NamedThing endometrial blood vessel A blood vessel that is part of a endometrium. tmpxe7fu0cj_hp_relaxed.owl blood vessel of endometrium uberon owl:Class HP:0006353 biolink:NamedThing Hypoplasia of the tooth germ Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth. tmpxe7fu0cj_hp_relaxed.owl Underdevelopment of tooth germ|Hypoplastic tooth buds|Decreased size of tooth bud|Underdevelopment of tooth bud|Decreased size of tooth germ|Hypotrophic tooth germ|Small tooth germ|Small tooth bud UMLS:C4025055 human_phenotype owl:Class HP:0000685 biolink:NamedThing Hypoplasia of teeth Developmental hypoplasia of teeth. tmpxe7fu0cj_hp_relaxed.owl Decreased size of teeth|Hypoplastic teeth|Underdevelopment of teeth UMLS:C0235357|UMLS:C4280611 HP:0006281|HP:0006307|HP:0000688 human_phenotype owl:Class UBERON:0010188 biolink:NamedThing protuberance A roughly circular bulge in a surface. tmpxe7fu0cj_hp_relaxed.owl FMA:82506|EHDAA2:0003250|AEO:0000205 requires review uberon owl:Class UBERON:0034944 biolink:NamedThing zone of organ tmpxe7fu0cj_hp_relaxed.owl organ zone|organ zonal region|organ sector|organ region with floating fiat boundary FMA:55268 uberon owl:Class GO:0048863 biolink:NamedThing stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Stem_cell_differentiation biological_process owl:Class GO:1905505 biolink:NamedThing positive regulation of motile cilium assembly Any process that activates or increases the frequency, rate or extent of motile cilium assembly. tmpxe7fu0cj_hp_relaxed.owl positive regulation of motile primary cilium formation|up regulation of nodal cilium assembly|upregulation of nodal cilium assembly|upregulation of motile primary cilium assembly|up-regulation of motile primary cilia formation|up-regulation of motile primary cilium assembly|up regulation of motile primary cilia formation|positive regulation of motile primary cilia assembly|upregulation of motile primary cilium formation|up regulation of nodal cilium formation|up-regulation of nodal cilium formation|upregulation of motile primary cilia assembly|positive regulation of nodal cilium assembly|activation of motile primary cilia formation|up regulation of motile primary cilia assembly|activation of motile primary cilium formation|positive regulation of motile primary cilia formation|up regulation of motile primary cilium formation|upregulation of motile primary cilia formation|activation of motile primary cilia assembly|up-regulation of motile primary cilia assembly|up-regulation of motile primary cilium formation|activation of motile primary cilium assembly|activation of nodal cilium assembly|up-regulation of nodal cilium assembly|positive regulation of nodal cilium formation|positive regulation of motile primary cilium assembly|up regulation of motile primary cilium assembly|upregulation of nodal cilium formation|activation of nodal cilium formation krc 2016-09-27T18:28:03Z biological_process owl:Class GO:1905503 biolink:NamedThing regulation of motile cilium assembly Any process that modulates the frequency, rate or extent of motile cilium assembly. tmpxe7fu0cj_hp_relaxed.owl regulation of motile primary cilia assembly|regulation of nodal cilium formation|regulation of motile primary cilium formation|regulation of motile primary cilium assembly|regulation of motile primary cilia formation|regulation of nodal cilium assembly krc 2016-09-27T18:27:47Z biological_process owl:Class HP:0004042 biolink:NamedThing Ulnar metaphyseal irregularity Irregularity of the normally smooth surface of the metaphysis of the ulna. tmpxe7fu0cj_hp_relaxed.owl Irregular ulnar metaphysis UMLS:C4021688 human_phenotype owl:Class HP:0003850 biolink:NamedThing Upper-limb metaphyseal irregularity tmpxe7fu0cj_hp_relaxed.owl Irregular metaphyses of the upper limbs|Irregular wide portion of upper limb bones UMLS:C4021720 human_phenotype owl:Class HP:0000835 biolink:NamedThing Adrenal hypoplasia Developmental hypoplasia of the adrenal glands. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped adrenal glands|Small adrenal glands|Adrenal gland hypoplasia|Hypoplastic adrenal glands UMLS:C1846223|SNOMEDCT_US:237774001|UMLS:C0342491|MSH:C538429 owl:Class HP:0011732 biolink:NamedThing Abnormality of adrenal morphology Any structural anomaly of the adrenal glands. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023213 peter 2012-04-21T08:04:29Z human_phenotype owl:Class HP:0004859 biolink:NamedThing Amegakaryocytic thrombocytopenia Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0398639|SNOMEDCT_US:234482009 human_phenotype owl:Class HP:0001873 biolink:NamedThing Thrombocytopenia A reduction in the number of circulating thrombocytes. tmpxe7fu0cj_hp_relaxed.owl Low platelet count MSH:D013921|UMLS:C0392386|SNOMEDCT_US:415116008|UMLS:C0040034|SNOMEDCT_US:302215000 Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). HP:0004838|HP:0008302|HP:0008175|HP:0008268|HP:0001906 owl:Class UBERON:0001951 biolink:NamedThing epithelium of nasopharynx An epithelium that is part of a nasopharynx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nasopharynx epithelium|nasopharynx epithelial tissue|epithelial tissue of nasal part of pharynx|rhinopharynx epithelial tissue|epithelium of nasal part of pharynx|nasal part of pharynx epithelium|rhinopharynx epithelium|nasal part of pharynx epithelial tissue|epithelial tissue of nasopharynx|epithelium of rhinopharynx|epithelial tissue of rhinopharynx|nasopharyngeal epithelium UMLS:C1179157|EHDAA2:0001241|EHDAA:7090|FMA:62452|BTO:0004480|VHOG:0001038|EMAPA:17672|MA:0001865|CALOHA:TS-0662|NCIT:C49263 UBERON:0003237 uberon owl:Class UBERON:0003351 biolink:NamedThing pharyngeal epithelium An epithelium that is part of a pharynx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelium of pharynx|pharynx epithelial tissue|pharynx epithelium|epithelial tissue of pharynx MA:0002725|XAO:0003202|BSA:0000112|BTO:0005240|RETIRED_EHDAA2:0001460|EMAPA:16708|TAO:0001174|ZFA:0001174 uberon owl:Class Epithelium lining the pharynx consisting largely of simple columnar epithelium with a short segment (1mm) of stratified squamous epithelium on the ventral side. Chen et al, 2007.[TAO] HP:0008115 biolink:NamedThing Clinodactyly of the 3rd toe Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe). tmpxe7fu0cj_hp_relaxed.owl 3rd toe clinodactyly|Curvature of 3rd toe UMLS:C4021555|UMLS:C4280416 human_phenotype owl:Class HP:0001863 biolink:NamedThing Toe clinodactyly Bending or curvature of a toe in the tibial direction (i.e., towards the big toe). tmpxe7fu0cj_hp_relaxed.owl Clinodactyly of feet|Toe curvature UMLS:C4021770|UMLS:C4280587 human_phenotype owl:Class GO:0010759 biolink:NamedThing positive regulation of macrophage chemotaxis Any process that increases the rate, frequency or extent of macrophage chemotaxis. Macrophage chemotaxis is the movement of a macrophage in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0071622 biolink:NamedThing regulation of granulocyte chemotaxis Any process that modulates the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl mah 2010-02-09T04:09:24Z biological_process owl:Class HP:0010809 biolink:NamedThing Broad uvula Increased width of the uvula (subjective finding). tmpxe7fu0cj_hp_relaxed.owl Wide uvula UMLS:C3693299 This finding often accompanies a Submucous cleft palate, but this should be coded separately. A longitudinal groove indicating incomplete fusion of the two parts of the uvula may be present with a broadened uvula and has sometimes been called abortive cleft uvula. peter 2010-07-05T10:22:01Z owl:Class HP:0000172 biolink:NamedThing Abnormal uvula morphology Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. tmpxe7fu0cj_hp_relaxed.owl Abnormality of palatine uvula|Abnormality of the uvula UMLS:C4025885 owl:Class HP:0025724 biolink:NamedThing Caseous vernix-like desquamation Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth. tmpxe7fu0cj_hp_relaxed.owl Greasy, thick vernix caseosa-like scale peterrobinson owl:Class HP:0025723 biolink:NamedThing Abnormal fetal skin morphology Any structural anomaly of the skin of the fetus or newborn. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class UBERON:0018617 biolink:NamedThing primary lower tooth tmpxe7fu0cj_hp_relaxed.owl deciduous lower tooth uberon owl:Class UBERON:0007115 biolink:NamedThing deciduous tooth One of the first set of teeth in the growth development of humans and many other mammals[WP]. tmpxe7fu0cj_hp_relaxed.owl primary tooth|dentes decidui|temporary tooth GAID:1266|MESH:A14.254.860.700|UMLS:C0040455|NCIT:C33745|FMA:55655 GAT in FMA. http://upload.wikimedia.org/wikipedia/commons/9/97/Deciduous_teeth_by_David_Shankbone.jpg uberon owl:Class HP:0004813 biolink:NamedThing Post-transfusion thrombocytopenia Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages. tmpxe7fu0cj_hp_relaxed.owl Post-transfusion purpura MSH:C562868|UMLS:C0398648|UMLS:C1868252|SNOMEDCT_US:73162004 Post-transfusion thrombocytopenia is thought to be related to platelet-specific alloantibody from prior transfusion/pregnancy. human_phenotype owl:Class HP:0012355 biolink:NamedThing Abnormal mannosylation of N-linked protein glycosylation An anomaly of the addition of mannose to N-linked glycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022936 peter 2013-09-15T10:23:53Z human_phenotype owl:Class HP:0012347 biolink:NamedThing Abnormal protein N-linked glycosylation An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022944 Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signalling. peter 2013-09-15T09:29:59Z human_phenotype owl:Class UBERON:0016915 biolink:NamedThing vermilion The zone of the skin that surrounds a lip and is colored red due to thin epithelium and presence of eleidin. tmpxe7fu0cj_hp_relaxed.owl vermillion|vermilion of lip|vermilion border of lip|vermilion border SCTID:362086008|FMA:59824 uberon owl:Class GO:0003197 biolink:NamedThing endocardial cushion development The progression of a cardiac cushion over time, from its initial formation to the mature structure. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-08T01:17:43Z biological_process owl:Class GO:0060485 biolink:NamedThing mesenchyme development The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells. tmpxe7fu0cj_hp_relaxed.owl mesenchymal development biological_process owl:Class HP:0011949 biolink:NamedThing Acute infectious pneumonia Acute inflammation of the lung due to an infection. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023112 peter 2012-06-21T08:33:30Z human_phenotype owl:Class HP:0002090 biolink:NamedThing Pneumonia Inflammation of any part of the lung parenchyma. tmpxe7fu0cj_hp_relaxed.owl Pneumonia SNOMEDCT_US:233604007|UMLS:C0032285|MSH:D011014 human_phenotype owl:Class HP:0001802 biolink:NamedThing Absent toenail Congenital absence of the toenail. tmpxe7fu0cj_hp_relaxed.owl Absent toenail|Absent toenails (anonychia)|Anonychia of toenails|Absent toenails UMLS:C1844555 human_phenotype owl:Class HP:0001798 biolink:NamedThing Anonychia Aplasia of the nail. tmpxe7fu0cj_hp_relaxed.owl Aplastic nails|Absent nails UMLS:C0265998|SNOMEDCT_US:23610003|MSH:C536377 Total absence of nails. HP:0007593|HP:0008384 human_phenotype owl:Class HP:0011290 biolink:NamedThing EEG with frontal sharp slow waves EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023426 peter 2012-02-11T12:30:41Z human_phenotype owl:Class HP:0011195 biolink:NamedThing EEG with focal sharp slow waves EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023479 hecht 2011-11-19T11:02:29Z human_phenotype owl:Class CL:0000006 biolink:NamedThing neuronal receptor cell tmpxe7fu0cj_hp_relaxed.owl neuronal receptor cell (sensu Animalia) cell owl:Class CL:0000197 biolink:NamedThing sensory receptor cell A cell that is capable of detection of a stimulus involved in sensory perception. tmpxe7fu0cj_hp_relaxed.owl receptor cell cell owl:Class HP:0500265 biolink:NamedThing Increased proportion of CD8-positive, alpha-beta TEMRA T cells An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. tmpxe7fu0cj_hp_relaxed.owl Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated 2020-05-15 19:32:37+00:00 owl:Class HP:0020177 biolink:NamedThing Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. tmpxe7fu0cj_hp_relaxed.owl Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated robinp 2019-07-06 22:18:57+00:00 owl:Class UBERON:0011164 biolink:NamedThing neurocranium bone A bone that is part of a neurocranium [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl chondrocranium bone SCTID:120229002|MA:0001478|EMAPA:35238 uberon owl:Class UBERON:0007376 biolink:NamedThing outer epithelium The epidermis is the entire outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species[GO]. tmpxe7fu0cj_hp_relaxed.owl hypodermis|outer epidermal layer|hypoderm|outer epithelial layer|epidermis (sensu Metazoa)|epidermis BSA:0000073|Wikipedia:Epidermis_(zoology)|HAO:0000298|TADS:0000109|BTO:0000313|FBbt:00004993|WBbt:0005733 this grouping class exists primarily to align with GO - see GO:0008544. uberon owl:Class HP:0040111 biolink:NamedThing Bilateral external ear deformity tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022432 HPO:skoehler owl:Class HP:0000356 biolink:NamedThing Abnormality of the outer ear An abnormality of the external ear. tmpxe7fu0cj_hp_relaxed.owl Abnormal pinnae|Abnormality of the auricle|Malformed pinnae|Ear anomalies|External ear malformations|Abnormality of the outer ear|Outer ear abnormality|Abnormality of the external ear UMLS:C0266589|SNOMEDCT_US:275259005|UMLS:C1846460 HP:0001752 human_phenotype owl:Class CHEBI:35692 biolink:NamedThing dicarboxylic acid Any carboxylic acid containing two carboxy groups. tmpxe7fu0cj_hp_relaxed.owl dicarboxylic acids|Dicarboxylic acid KEGG:C02028 CHEBI:23692|CHEBI:4501|CHEBI:36172 chebi_ontology owl:Class GO:0009628 biolink:NamedThing response to abiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus. tmpxe7fu0cj_hp_relaxed.owl response to abiotic stress https://github.com/geneontology/go-ontology/issues/16572 Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class GO:0050896 biolink:NamedThing response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. tmpxe7fu0cj_hp_relaxed.owl physiological response to stimulus Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0051869 biological_process owl:Class HP:0002280 biolink:NamedThing Enlarged cisterna magna Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. tmpxe7fu0cj_hp_relaxed.owl Large cisterna magna|Mega cisterna magna UMLS:C1853377 Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture. owl:Class HP:0005445 biolink:NamedThing Enlarged posterior fossa Abnormal increased size of the posterior cranial fossa. tmpxe7fu0cj_hp_relaxed.owl Widened posterior fossa UMLS:C1855889 owl:Class HP:0006643 biolink:NamedThing Fused sternal ossification centers tmpxe7fu0cj_hp_relaxed.owl Fused sternal ossification centres UMLS:C1859376 human_phenotype owl:Class HP:0011863 biolink:NamedThing Abnormal sternal ossification Any anomaly in the formation of the bony substance of the sternum. tmpxe7fu0cj_hp_relaxed.owl Abnormal maturation of breastbone|Sternal ossification centre abnormalities|Sternal ossification center abnormalities UMLS:C1860243 The sternum develops from two cartilaginous bars, situated one on either side of the median plane and connected with the cartilages of the upper nine ribs of its own side. During development, the two cartilaginous bars fuse with each other to form the cartilaginous sternum. This in turn is ossified from six centers: one in the manubrium, four in the body of the sternum, and one in the xiphoid process. peter 2012-05-27T04:08:55Z HP:0006624 human_phenotype owl:Class UBERON:0014871 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit 1 A distal epiphysis that is part of a distal phalanx of pedal digit 1. tmpxe7fu0cj_hp_relaxed.owl ungual tuberosity of distal phalanx of big toe|head of distal phalanx of big toe|distal end of distal phalanx of big toe|head of distal phalanx of first digit of foot|distal epiphysis of distal phalanx of pedal digit I|distal epiphysis of distal phalanx of big toe|head of distal phalanx of great toe FMA:33036 uberon owl:Class UBERON:0019319 biolink:NamedThing exocrine gland of integumental system An exocrine gland that is part of a integumental system. tmpxe7fu0cj_hp_relaxed.owl integumental exocrine gland|integumental system exocrine gland uberon owl:Class UBERON:0002365 biolink:NamedThing exocrine gland A gland that secretes products (excluding hormones and other chemical messengers) into ducts (duct glands) which lead directly into the external environment[WP]. Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas. tmpxe7fu0cj_hp_relaxed.owl glandula exocrina|ducted gland CALOHA:TS-2012|EMAPA:35327|NCIT:C12712|AEO:0000097|BTO:0000765|MA:0002564|FMA:9596|GAID:34|EHDAA2:0003097|Wikipedia:Exocrine_gland|MESH:D005088|UMLS:C0015282|SCTID:115976003 Currently this is logically defined by the system it belongs to, but a better system may be base this on presence/absence of ducts. However, the dual nature of the liver should be taken into consideration here. Consider adding subclasses uberon owl:Class GO:0060412 biolink:NamedThing ventricular septum morphogenesis The developmental process in which a ventricular septum is generated and organized. A ventricular septum is an anatomical structure that separates the lower chambers (ventricles) of the heart from one another. tmpxe7fu0cj_hp_relaxed.owl interventricular septum morphogenesis biological_process owl:Class UBERON:0002201 biolink:NamedThing vasculature of trunk A vasculature that is part of a trunk [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl trunk vasculature|vasculature of torso|torso vasculature|vascular network of torso|trunk vascular network|torso vascular network|vascular network of trunk TAO:0005024|ZFA:0005024|FMA:74712 uberon owl:Class HP:0007270 biolink:NamedThing Atypical absence seizure An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. tmpxe7fu0cj_hp_relaxed.owl Atypical absence|Atypical petit mal seizures|Atypical absence seizures UMLS:C0595948|SNOMEDCT_US:23374007 in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. human_phenotype owl:Class HP:0002121 biolink:NamedThing Generalized non-motor (absence) seizure A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. tmpxe7fu0cj_hp_relaxed.owl Petit mal|Absence seizures|Petit mal seizure|Brief seizures with staring spells|Petit mal seizures|Generalised non-motor (absence) seizure|Absence seizure|Generalised non-motor seizure SNOMEDCT_US:50866000|SNOMEDCT_US:79631006|MSH:D004832|SNOMEDCT_US:230413002|SNOMEDCT_US:432241000124101|UMLS:C0014553 in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. HP:0011148|HP:0007143 human_phenotype owl:Class UBERON:0010129 biolink:NamedThing femur cartilage element A femur endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl femoral cartilage condensation EMAPA:17742 TODO - request EHDAA2 uberon owl:Class UBERON:0015052 biolink:NamedThing femur endochondral element A femur bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl femur element|femur skeletal element uberon owl:Class HP:0006014 biolink:NamedThing Abnormally shaped carpal bones tmpxe7fu0cj_hp_relaxed.owl Abnormally shaped wrist bones UMLS:C1860111 human_phenotype owl:Class HP:0001191 biolink:NamedThing Abnormality of the carpal bones An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). tmpxe7fu0cj_hp_relaxed.owl Abnormal carpal bones|Carpal bone anomalies|Anomalous carpal bones|Abnormal wrist bones UMLS:C1840535 human_phenotype owl:Class UBERON:0016398 biolink:NamedThing lymph node of lower limb A lymph node that is part of a hindlimb. tmpxe7fu0cj_hp_relaxed.owl FMA:44310 uberon owl:Class UBERON:0000029 biolink:NamedThing lymph node Any of the rounded masses of lymphoid tissue that are surrounded by a capsule of connective tissue, are distributed along the lymphatic vessels, and contain numerous lymphocytes which filter the flow of lymph. tmpxe7fu0cj_hp_relaxed.owl lymph gland|nodus lymphaticus OpenCyc:Mx4rwLPqLpwpEbGdrcN5Y29ycA|EFO:0000872|MAT:0000442|MA:0000139|ZFA_RETIRED:0005318|EMAPA:35523|MESH:D008198|GAID:947|BTO:0000784|VHOG:0001273|NCIT:C33027|galen:Lymphnode|TAO_RETIRED:0005318|NCIT:C12745|FMA:5034|CALOHA:TS-0579|EV:0100050|UMLS:C0024204 http://upload.wikimedia.org/wikipedia/commons/b/b8/Illu_lymph_node_structure.png uberon https://github.com/obophenotype/uberon/issues/650 owl:Class Lymph nodes that are associated with the lymphatic system have evolved in mammals.[well established][VHOG] PR:000002976 biolink:NamedThing Ly-6-like protein A protein that is the translation product of any of the LY6 genes (LY6A-LY6I). tmpxe7fu0cj_hp_relaxed.owl PIRSF:PIRSF002021 Category=family. protein owl:Class HP:0010462 biolink:NamedThing Aplasia/Hypoplasia of the ovary Aplasia or developmental hypoplasia of the ovary. tmpxe7fu0cj_hp_relaxed.owl Absent/small ovary|Absent/underdeveloped ovary UMLS:C4023818 peter 2009-09-15T08:38:35Z human_phenotype owl:Class HP:0010169 biolink:NamedThing Pseudoepiphyses of the toes tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023990 doelkens 2009-05-29T01:34:06Z human_phenotype owl:Class HP:0010584 biolink:NamedThing Pseudoepiphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C1841685 sandra1 2009-10-22T02:53:19Z human_phenotype owl:Class UBERON:0019253 biolink:NamedThing upper secondary incisor tooth tmpxe7fu0cj_hp_relaxed.owl maxillary secondary incisor tooth|upper permanent incisor|upper permanent incisor tooth FMA:55712 uberon owl:Class UBERON:0001098 biolink:NamedThing incisor tooth Incisors are the first kind of tooth in heterodont mammals. They are located in the premaxilla above and mandible below. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl incisor MESH:A14.254.860.425|BTO:0001741|MA:0000349|OpenCyc:Mx4rwP1ch5wpEbGdrcN5Y29ycA|NCIT:C32769|GAID:1263|UMLS:C0021156|EHDAA:8047|FMA:12823|EMAPA:32889|EHDAA:8011 Humans normally have eight (8) incisors; Among other animals, some other primates, cats and horses have twelve. Rodents have four, while Foxes have nine. Rabbits and hares (lagomorphs) were once considered rodents, but are distinguished by having eight - one small pair, called 'peg teeth', is located directly behind the most anterior pair. Incisors are used to bite off tough foods, such as red meat http://upload.wikimedia.org/wikipedia/commons/4/4c/Gray997.png uberon owl:Class UBERON:0006295 biolink:NamedThing sternebral bone pre-cartilage condensation tmpxe7fu0cj_hp_relaxed.owl VHOG:0000961|EHDAA2:0001912|EMAPA:18345|EHDAA:9565 uberon owl:Class UBERON:0018597 biolink:NamedThing upper primary canine tooth A primary canine tooth that is part of a upper jaw region. tmpxe7fu0cj_hp_relaxed.owl upper deciduous canine tooth|upper primary tooth C|deciduous upper canine tooth FMA:84228 uberon owl:Class UBERON:0018583 biolink:NamedThing primary canine tooth tmpxe7fu0cj_hp_relaxed.owl deciduous canine tooth|primary tooth C|temporary canine tooth FMA:84202 uberon owl:Class HP:0500020 biolink:NamedThing Abnormal cardiac biomarker test Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes. tmpxe7fu0cj_hp_relaxed.owl 2017-05-12 16:54:55+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0500015 biolink:NamedThing Abnormal cardiac test Abnormal test result of cardiovascular physiology. tmpxe7fu0cj_hp_relaxed.owl 2017-05-12 16:23:33+00:00 ORCID:0000-0001-7941-2961 owl:Class UBERON:0000200 biolink:NamedThing gyrus A ridge on the cerebral cortex. It is generally surrounded by one or more sulci . tmpxe7fu0cj_hp_relaxed.owl gyrus of cerebrum|cerebral gyrus|folium|gyri|folia|folium of brain|gyrus of cerebral hemisphere|gyri of cerebrum|gyrus of neuraxis|neuraxis gyrus UMLS:C0458308|BTO:0002495|FMA:83874|NCIT:C32290 uberon https://github.com/obophenotype/uberon/issues/573 owl:Class HP:0005001 biolink:NamedThing Recurrent patellar dislocation Patellar dislocation occurring repeated times. tmpxe7fu0cj_hp_relaxed.owl Recurrent dislocation of patellas UMLS:C0409412|SNOMEDCT_US:202246002 human_phenotype owl:Class HP:0031869 biolink:NamedThing Recurrent joint dislocation Dislocation of a given joint repeated times. tmpxe7fu0cj_hp_relaxed.owl Recurrent joint dislocations 2018-05-06 13:19:21+00:00 peter owl:Class HP:0032062 biolink:NamedThing Mallory-Weiss tear Vomiting-induced mucosal laceration at the esophago-gastric junction. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 12:01:42+00:00 peter owl:Class GO:0051937 biolink:NamedThing catecholamine transport The directed movement of catecholamines, a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0002418 biolink:NamedThing Abnormal midbrain morphology An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the midbrain|Abnormal shape of midbrain|Abnormality of the mesencephalon|Abnormality of midbrain morphology UMLS:C4021755 owl:Class HP:0012443 biolink:NamedThing Abnormality of brain morphology A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of brain|Abnormality of the brain UMLS:C4021085 peter 2013-11-23T02:38:00Z owl:Class HP:0002007 biolink:NamedThing Frontal bossing Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. tmpxe7fu0cj_hp_relaxed.owl Skull bossing|Frontal protruberance SNOMEDCT_US:90145001|UMLS:C0221354 This is not the same as prominent forehead. HP:0001358|HP:0001359|HP:0000333|HP:0000254 human_phenotype owl:Class HP:0000290 biolink:NamedThing Abnormality of the forehead An anomaly of the forehead. tmpxe7fu0cj_hp_relaxed.owl Deformity of the forehead|Abnormality of the forehead|Anomaly of the forehead|Abnormality of the frontal region of the face|Malformation of the forehead UMLS:C4025867 human_phenotype owl:Class GO:0110059 biolink:NamedThing negative regulation of blood vessel endothelial cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of blood vessel endothelial cell differentiation. tmpxe7fu0cj_hp_relaxed.owl kmv 2017-10-23T14:47:29Z biological_process owl:Class HP:0004886 biolink:NamedThing Congenital laryngeal stridor tmpxe7fu0cj_hp_relaxed.owl UMLS:C0265763|SNOMEDCT_US:55490007 human_phenotype owl:Class HP:0005348 biolink:NamedThing Inspiratory stridor Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:58596002|UMLS:C0677600 human_phenotype owl:Class HP:0004562 biolink:NamedThing Beaking of vertebral bodies T12-L3 tmpxe7fu0cj_hp_relaxed.owl UMLS:C1854941 human_phenotype owl:Class HP:0004568 biolink:NamedThing Beaking of vertebral bodies Anterior tongue-like protrusions of the vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl Anterior beaking of vertebrae|Vertebral tongue-like protrusion|Beaked vertebral bodies|Anterior beaking of vertebral bodies|anterior beaking UMLS:C0264112|UMLS:C1856599|SNOMEDCT_US:19888007 HP:0003315|HP:0004569|HP:0003313|HP:0004584|HP:0005122|HP:0004577 human_phenotype owl:Class HP:0032919 biolink:NamedThing Focal aware head nodding automatism seizure A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032906 biolink:NamedThing Focal head nodding automatism seizure A type of focal automatism seizure characterized by involuntary head nodding at onset. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0031945 biolink:NamedThing positive regulation of glucocorticoid metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0045940 biolink:NamedThing positive regulation of steroid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving steroids. tmpxe7fu0cj_hp_relaxed.owl positive regulation of steroid metabolism|up regulation of steroid metabolic process|stimulation of steroid metabolic process|upregulation of steroid metabolic process|up-regulation of steroid metabolic process|activation of steroid metabolic process biological_process owl:Class GO:2001205 biolink:NamedThing negative regulation of osteoclast development Any process that stops, prevents or reduces the frequency, rate or extent of osteoclast development. tmpxe7fu0cj_hp_relaxed.owl negative regulation of osteoclast cell development yaf 2011-11-10T10:59:06Z biological_process owl:Class HP:0009302 biolink:NamedThing Bullet-shaped distal phalanx of the 4th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped outermost bone of ring finger UMLS:C4024458 doelkens 2009-01-08T04:41:33Z human_phenotype owl:Class HP:0009405 biolink:NamedThing Bullet-shaped phalanges of the 4th finger A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped of bone of ring finger UMLS:C4024386 doelkens 2009-01-13T02:37:29Z human_phenotype owl:Class CHEBI:35620 biolink:NamedThing vasodilator agent A drug used to cause dilation of the blood vessels. tmpxe7fu0cj_hp_relaxed.owl vasodilator|vasodilator agents chebi_ontology owl:Class CHEBI:35554 biolink:NamedThing cardiovascular drug A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume. tmpxe7fu0cj_hp_relaxed.owl cardiovascular drugs|cardiovascular agent chebi_ontology owl:Class GO:0019852 biolink:NamedThing L-ascorbic acid metabolic process The chemical reactions and pathways involving L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species. tmpxe7fu0cj_hp_relaxed.owl ascorbate metabolic process|vitamin C metabolic process|ascorbate metabolism|vitamin C metabolism|L-ascorbic acid metabolism biological_process owl:Class HP:0000529 biolink:NamedThing Progressive visual loss A reduction of previously attained ability to see. tmpxe7fu0cj_hp_relaxed.owl Visual loss, progressive|Progressive visual acuity loss|Progressive visual impairment|Decreased visual acuity, progressive|Progressive vision loss|Progressive loss of vision|Slowly progressive visual loss|Loss of visual acuity|Vision loss, progressive UMLS:C3277697|UMLS:C1839364 HP:0000560|HP:0007735|HP:0007753|HP:0007967 human_phenotype owl:Class HP:0000572 biolink:NamedThing Visual loss Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). tmpxe7fu0cj_hp_relaxed.owl Visual loss|Loss of vision|Vision loss UMLS:C3665386|SNOMEDCT_US:7973008 owl:Class GO:0001568 biolink:NamedThing blood vessel development The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0004251 biolink:NamedThing Lunate-triquetral fusion Osseous fusion of the lunate and triquetrum. tmpxe7fu0cj_hp_relaxed.owl Lunotriquetral synostosis UMLS:C1867930 Synostosis of the carpal bones is a rare congenital condition. Lunate and triquetrum are the bones more commonly involved. human_phenotype owl:Class HP:0004248 biolink:NamedThing Abnormality of the lunate bone tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025393 human_phenotype owl:Class HP:0100615 biolink:NamedThing Ovarian neoplasm A tumor (abnormal growth of tissue) of the ovary. tmpxe7fu0cj_hp_relaxed.owl Ovarian neoplasia|Ovarian tumour|Ovarian cancer|Neoplasm of the ovary|Neoplasm of the ovaries|Ovarian tumor SNOMEDCT_US:123843001|UMLS:C0919267|NCIT:C3262|MSH:D010051 doelkens 2010-12-28T11:37:01Z human_phenotype owl:Class HP:0010785 biolink:NamedThing Gonadal neoplasm A tumor (abnormal growth of tissue) of a gonad. tmpxe7fu0cj_hp_relaxed.owl Gonadal neoplasia UMLS:C4021228|NCIT:C3262 sdoelken 2010-05-04T09:44:41Z human_phenotype owl:Class HP:0003010 biolink:NamedThing Prolonged bleeding time Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. tmpxe7fu0cj_hp_relaxed.owl Increased bleeding time|Prolonged bleeding time UMLS:C0151529 The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes. HP:0008294|HP:0008337 human_phenotype owl:Class HP:0001892 biolink:NamedThing Abnormal bleeding An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. tmpxe7fu0cj_hp_relaxed.owl Hemorrhagic diathesis|Bleeding tendency|Bleeding diathesis SNOMEDCT_US:248250000|UMLS:C1458140|SNOMEDCT_US:64779008 This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. HP:0004830|HP:0004862|HP:0004865|HP:0008183|HP:0004834|HP:0004849 human_phenotype owl:Class UBERON:0013121 biolink:NamedThing proximal epiphysis of phalanx of pes tmpxe7fu0cj_hp_relaxed.owl base of phalanx of foot|basal epiphysis of phalanx of foot|basis phalangis pedis|proximal epiphysis of phalanx of toe|basis phalangis (pedis) FMA:32888 uberon owl:Class UBERON:0011973 biolink:NamedThing epiphysis of phalanx of pes An epiphysis that is part of a phalanx of a pes [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epiphysis of phalanx of toe uberon owl:Class HP:0004786 biolink:NamedThing Jejunal diverticula tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025293 human_phenotype owl:Class HP:0030731 biolink:NamedThing Carcinoma A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:68453008|NCIT:C2916|UMLS:C0007097|MSH:D002277 owl:Class HP:0031492 biolink:NamedThing Epithelial neoplasm A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709]. tmpxe7fu0cj_hp_relaxed.owl 2017-09-18 00:40:36+00:00 Epithelial neoplasm is a benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. peter owl:Class UBERON:0018415 biolink:NamedThing ethmoid foramen An bone foramen in the ethmoid bone. tmpxe7fu0cj_hp_relaxed.owl ethmoidal foramina|ethmoid foramina|ethmoidal foramen|foramina ethmoidalia Taxon nodes: In humans, refers to anterior or posterior ethmoid foramina uberon owl:Class There are usually two Foramina ethmoidalia present on each side in the dog. Sometimes one is situated rostral to the other, but often it is dorsal. They are not homologous with the Foramen ethmoidale anterius and Foramen ethmoidale posterius of man. Therefore they are not listed separately.[NOMINA ANATOMICA VETERINARIA (2005)] UBERON:0004111 biolink:NamedThing anatomical conduit Any tube, opening or passage that connects two distinct anatomical spaces. tmpxe7fu0cj_hp_relaxed.owl ostium|foramen|ostia|opening|foramina FMA:242873|Wikipedia:Foramen|AEO:0000080|EHDAA2:0003080|SCTID:346902003 uberon owl:Class FMA has both conduit and conduit space. In EHDAA2 this is a surface feature UBERON:4300227 biolink:NamedThing hindlimb bud mesenchyme Mesenchyme that is part of a hindlimb bud. tmpxe7fu0cj_hp_relaxed.owl WD uberon owl:Class UBERON:0010328 biolink:NamedThing limb bud mesenchyme Mesenchyme that is part of a limb bud. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0030469 biolink:NamedThing Abnormal dark-adapted electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072959 owl:Class HP:0030466 biolink:NamedThing Abnormal full-field electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072956 owl:Class CHEBI:36078 biolink:NamedThing cholanoid tmpxe7fu0cj_hp_relaxed.owl bile acids and derivatives|cholanoids LIPID_MAPS_class:LMST04 CHEBI:22867|CHEBI:50419 chebi_ontology owl:Class UBERON:0005844 biolink:NamedThing spinal cord segment tmpxe7fu0cj_hp_relaxed.owl axial part of spinal cord|segment of spinal cord|spinal neuromeres|axial regional part of spinal cord FMA:62420|SCTID:278748001|BIRNLEX:2665|MA:0003080 This is currently used loosely to refer to cervical, lumbar, etc as well as the metamerically repeated segments, which may correspond more closely with the ZFA neuromere term uberon owl:Class UBERON:0001948 biolink:NamedThing regional part of spinal cord A multi-tissue structure that is part of a spinal cord. tmpxe7fu0cj_hp_relaxed.owl spinal cord part UMLS:C1268166|SCTID:244437008|NCIT:C33969|BIRNLEX:1496 uberon owl:Class HP:0410056 biolink:NamedThing Decreased level of erythritol in CSF A decrease in the level of erythritol in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Decreased level of erythritol in cerebrospinal fluid 2018-01-27 02:15:08+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0025454 biolink:NamedThing Abnormal CSF metabolite concentration Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal cerebrospinal fluid metabolite concentration|Abnormal CSF metabolite level 2017-05-05 10:24:32+00:00 HPO:probinson HP:0032207 owl:Class HP:0009390 biolink:NamedThing Small epiphyses of the 5th finger Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of pinky finger bone|Small end part of pinkie finger bone|Small end part of little finger bone UMLS:C4024399 doelkens 2009-01-13T01:19:03Z human_phenotype owl:Class HP:0032742 biolink:NamedThing Focal aware emotional seizure with pleasure Focal emotional seizure with pleasure in which awareness is retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032734 biolink:NamedThing Focal aware emotional seizure A focal emotional seizure during which awareness is retained throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0070875 biolink:NamedThing positive regulation of glycogen metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0070873 biolink:NamedThing regulation of glycogen metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0002195 biolink:NamedThing trabecula of lymph node Membranous process coming from capsule of lymph node[WP]. tmpxe7fu0cj_hp_relaxed.owl lymph node trabecula|lymph node trabeculum UMLS:C1184179|MA:0000746|NCIT:C33035|FMA:74605 http://upload.wikimedia.org/wikipedia/commons/b/b3/Gray598.png uberon owl:Class UBERON:0000440 biolink:NamedThing trabecula A small, often microscopic, tissue element in the form of a small beam, strut or rod, generally having a mechanical function, and usually but not necessarily composed of dense collagenous tissue. On histological section, a trabecula can look like a septum, but in three dimensions they are topologically distinct, with trabeculae being roughly rod or pillar-shaped and septa being sheet-like. Trabeculae are usually composed of dense fibrous tissue, i.e. mainly of collagen, and in most cases provide mechanical strengthening or stiffening to a soft solid organ, such as the spleen. They can be composed of other materials, such as bone or muscle[WP]. tmpxe7fu0cj_hp_relaxed.owl FMA:85273|BTO:0002501 uberon owl:Class trabecular GO:0006811 biolink:NamedThing ion transport The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0006810 biolink:NamedThing transport The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein. tmpxe7fu0cj_hp_relaxed.owl solute:solute exchange|single-organism transport|small molecule transport Note that this term should not be used for direct annotation. It should be possible to make a more specific annotation to one of the children of this term, for e.g. to transmembrane transport, to microtubule-based transport or to vesicle-mediated transport. jl 2012-12-13T16:25:32Z GO:0044765|GO:0015457|GO:0015460 biological_process owl:Class GO:0045727 biolink:NamedThing positive regulation of translation Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. tmpxe7fu0cj_hp_relaxed.owl positive regulation of protein biosynthesis|up-regulation of protein biosynthetic process|positive regulation of protein synthesis|up regulation of protein biosynthetic process|positive regulation of protein anabolism|upregulation of protein biosynthetic process|activation of protein biosynthetic process|positive regulation of protein biosynthetic process|stimulation of protein biosynthetic process|positive regulation of protein formation GO:0045946 biological_process owl:Class UBERON:0003894 biolink:NamedThing liver primordium A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum. tmpxe7fu0cj_hp_relaxed.owl primordium of the liver|hepatic plate|liver bud|embryological hepatic plate|liver endoderm AAO:0011058|UMLS:C0734013|EHDAA2:0000744|TAO:0000124|EHDAA:973|NCIT:C34277|EFO:0002577|EMAPA:16847|XAO:0003266|EFO:0003428|ZFA:0000124|UMLS:C1514451|BTO:0003391 consider adding further subdivisions of the endoderm, e.g. ventral foregut. Note we place two EFO classes here, it's not clear how they differ uberon owl:Class UBERON:0000485 biolink:NamedThing simple columnar epithelium Unilaminar epithelium, which consists of a single layer of columnar cells. Examples: ciliated columnar epithelium, gastric epithelium, microvillus columnar epithelium.[FMA]. tmpxe7fu0cj_hp_relaxed.owl columnar epithlium|epithelium simplex columnare|simple columnar epithelia|columnar epithelium|simple columnar epithelium EHDAA2_RETIRED:0003068|BILA:0000068|CARO:0000068|HAO:0000068|NCIT:C33552|TAO:0001496|UMLS:C0836135|FMA:45567|ZFA:0001496|FBbt:00007027|Wikipedia:Simple_columnar_epithelium|AEO:0000068|SCTID:32210007|AAO:0010063|XAO:0004008 http://upload.wikimedia.org/wikipedia/commons/8/8b/Gray1059.png uberon owl:Class GO:0007398 biolink:NamedThing ectoderm development The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0008050 biolink:NamedThing Abnormality of the palpebral fissures An anomaly of the space between the medial and lateral canthi of the two open eyelids. tmpxe7fu0cj_hp_relaxed.owl Deformity of the palpebral fissures|Abnormality of the palpebral fissures|Malformation of the palpebral fissures|Abnormality of the opening between the eyelids UMLS:C4024750 peter 2008-04-02T01:22:00Z human_phenotype owl:Class UBERON:0015161 biolink:NamedThing inferior branch of oculomotor nerve The inferior branch of the oculomotor nerve or the inferior division, the larger, divides into three branches. One passes beneath the optic nerve to the medial rectus. Another, to the inferior rectus. The third and longest runs forward between the inferior recti and lateralis to the inferior oblique. From the last a short thick branch is given off to the lower part of the ciliary ganglion, and forms its short root. All these branches enter the muscles on their ocular surfaces, with the exception of the nerve to the inferior oblique, which enters the muscle at its posterior border. tmpxe7fu0cj_hp_relaxed.owl ventral ramus of oculomotor nerve|oculomotor nerve inferior division|ramus inferior nervus oculomotorii|ramus inferior nervi oculomotorii|ventral ramus of occulomotor nerve|ramus inferior (nervus oculomotorius [III])|inferior division of oculomotor nerve|inferior ramus of oculomotor nerve AAO:0010632|FMA:52573 uberon owl:Class UBERON:5103625 biolink:NamedThing manual digit 5 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 5 plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl manual digit 5 skeleton|manual digit V digitopodial skeleton|manual digit 5 this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class GO:0009309 biolink:NamedThing amine biosynthetic process The chemical reactions and pathways resulting in the formation of any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. tmpxe7fu0cj_hp_relaxed.owl amine biosynthesis|amine formation|amine anabolism|amine synthesis biological_process owl:Class GO:0044271 biolink:NamedThing cellular nitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. tmpxe7fu0cj_hp_relaxed.owl nitrogen compound synthesis|nitrogen compound anabolism|nitrogen compound biosynthesis|nitrogen compound formation biological_process owl:Class UBERON:0013773 biolink:NamedThing right nipple A nipple that is in_the_right_side_of a body proper. tmpxe7fu0cj_hp_relaxed.owl FMA:223693 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern HP:0041147 biolink:NamedThing Fractured epiphysis A partial or complete breakage of the epiphysis. tmpxe7fu0cj_hp_relaxed.owl bone epiphysis owl:Class GO:1902473 biolink:NamedThing regulation of protein localization to synapse Any process that modulates the frequency, rate or extent of protein localization to synapse. tmpxe7fu0cj_hp_relaxed.owl regulation of protein localisation to synapse kmv 2013-10-25T15:09:09Z biological_process owl:Class UBERON:0003684 biolink:NamedThing abdominal cavity The part of the ventral body cavity that is within the abdomen proper (excluding the pelvic cavity). tmpxe7fu0cj_hp_relaxed.owl cavity of compartment of abdomen|cavitas abdominis|cavity of abdominal compartment|space of abdominal compartment UMLS:C0230168|SCTID:361294009|FMA:12266|MESH:A01.047.025|OpenCyc:Mx4rvZR1TJwpEbGdrcN5Y29ycA|galen:AbdominalCavity|EMAPA:36505|GAID:17|EFO:0000213|MA:0003057|Wikipedia:Abdominal_cavity|NCIT:C12664 http://upload.wikimedia.org/wikipedia/commons/e/ee/Scheme_body_cavities-en.svg uberon owl:Class in FMA this contains the pelvic cavity, but this is inconsistent with the concept of abdominopelvic cavity UBERON:0002500 biolink:NamedThing zygomatic arch The bony arch in vertebrates that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone. tmpxe7fu0cj_hp_relaxed.owl arcus zygomaticus|zygoma MFMO:0000108|MA:0002810|OpenCyc:Mx4rvih1YZwpEbGdrcN5Y29ycA|galen:Zygoma|FMA:53120|UMLS:C0162485|MESH:D015050|EMAPA:36570|NCIT:C33897 Gray188-Sphenozygomatic:suture.png uberon owl:Class The zygomatic arch is significant in evolutionary biology, as it is part of the structures derived from the ancestral single temporal fenestra of the synapsid ancestor of mammals. The zygomatic process of the temporal arises by two roots: an anterior, directed inward in front of the mandibular fossa, where it expands to form the articular tubercle. a posterior, which runs backward above the external acoustic meatus and is continuous with the supramastoid crest. The upper border of the arch gives attachment to the temporal fascia; the lower border and medial surface give origin to the Masseter The zygomatic arch is occasionally referred to as the zygoma, but this term usually refers to the zygomatic bone or occasionally the zygomatic process. UBERON:0005460 biolink:NamedThing left vitelline vein A vitelline vein that is in the left side of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl EMAPA:16380|EHDAA2:0000971|FMA:70307|EMAPA:16698 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0005487 biolink:NamedThing vitelline vein The paired veins that carry blood from the yolk sac back to the embryo. tmpxe7fu0cj_hp_relaxed.owl vein of omphalomesenteric system|vitelline veins|embryonic vitelline vein|omphalomesenteric vein|vena vitellina|vascular vitelline network XAO:0004147|EMAPA:36021|RETIRED_EHDAA2:0002209|UMLS:C0231091|NCIT:C34329|VHOG:0000401|FMA:70305|XAO:0000376 http://upload.wikimedia.org/wikipedia/commons/7/7e/Gray475.png uberon owl:Class One of two veins that run upward at first in front, and subsequently on either side of the intestinal canal. They unite on the ventral aspect of the canal, and beyond this are connected to one another by two anastomotic branches, one on the dorsal, and the other on the ventral aspect of the duodenal portion of the intestine, which is thus encircled by two venous rings; into the middle or dorsal anastomosis the superior mesenteric vein opens. The portions of the veins above the upper ring become interrupted by the developing liver and broken up by it into a plexus of small capillary-like vessels termed sinusoids.[XAO] Within each vertebrate group, the veins compose a few main functional systems that arise embryologically from what seems to be a common developmental pattern. (...) Early in development, three major sets of paired veins are present: the vitelline veins from the yolk sac, the cardinal veins from the body of the embryo itself, and the lateral abdominal veins from the pelvic region. The paired vitelline veins are among the first vessels to appear in the embryo. They arise over the yolk and follow the yolk stalk into the body. They then turn anteriorly, continue along the gut, and enter the sinus venosus.[well established][VHOG] check zfa (no text def). Check vitelline/omphalomesenteric distinction in XAO GO:0045933 biolink:NamedThing positive regulation of muscle contraction Any process that activates or increases the frequency, rate or extent of muscle contraction. tmpxe7fu0cj_hp_relaxed.owl stimulation of muscle contraction|activation of muscle contraction|upregulation of muscle contraction|up regulation of muscle contraction|up-regulation of muscle contraction biological_process owl:Class UBERON:0035826 biolink:NamedThing left adrenal gland medulla The adrenal gland medulla that is in the left side of the abdomen. tmpxe7fu0cj_hp_relaxed.owl left adrenal medulla|medulla of left suprarenal gland|medulla of left adrenal gland FMA:69092 uberon owl:Class UBERON:0001236 biolink:NamedThing adrenal medulla The inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine. tmpxe7fu0cj_hp_relaxed.owl medulla glandulae suprarenalis|medulla (glandula suprarenalis)|medulla of glandula suprarenalis|chromaffin cells|medulla of suprarenal gland|medulla of adrenal gland|adrenal central medulla|suprarenal medulla|adrenal gland medulla VHOG:0001378|BTO:0000049|UMLS:C0001629|MAT:0000495|MESH:D019439|EV:0100137|EFO:0000852|AAO:0011010|GAID:451|XAO:0000166|EMAPA:18428|NCIT:C12397|CALOHA:TS-0018|FMA:15633|MA:0000119 http://upload.wikimedia.org/wikipedia/commons/5/5c/Gray1185.png uberon owl:Class All craniates have groups of cells homologous to the mammalian adrenocortical and chromaffin tissues (medulla), but they are scattered in and near the kidneys in fishes. (...) The cortical and chromaffin tissues come together to form adrenal glands in tetrapods.[well established][VHOG] HP:0030427 biolink:NamedThing Ossifying fibroma of the jaw A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072940 The mandible is most commonly affected. owl:Class UBERON:0004982 biolink:NamedThing mucosa of epiglottis A mucosa that is part of a epiglottis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epiglottis mucosa|epiglottis mucosa of organ|epiglottis mucous membrane|mucosa of organ of epiglottis|mucous membrane of epiglottis|epiglottis organ mucosa|organ mucosa of epiglottis FMA:64015 uberon owl:Class GO:0098542 biolink:NamedThing defense response to other organism Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. tmpxe7fu0cj_hp_relaxed.owl resistance response to pathogen|defence response to pathogen, incompatible interaction|defence response incompatible interaction|defense response, incompatible interaction https://github.com/geneontology/go-ontology/issues/22173 dos 2013-11-11T12:59:11Z GO:0009814 biological_process owl:Class GO:0051707 biolink:NamedThing response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism. tmpxe7fu0cj_hp_relaxed.owl GO:0009613|GO:0042828 biological_process owl:Class UBERON:0010852 biolink:NamedThing fibula pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a fibula. tmpxe7fu0cj_hp_relaxed.owl fibulal pre-cartilage condensation|fibular pre-cartilage condensation EHDAA2:0000509|EHDAA:6196 uberon owl:Class UBERON:0015013 biolink:NamedThing fibula endochondral element The major postaxial endochondral element in the posterior zeugopod[Phenoscape]. tmpxe7fu0cj_hp_relaxed.owl fibula element|fibula skeletal element uberon owl:Class GO:2000384 biolink:NamedThing negative regulation of ectoderm development Any process that stops, prevents or reduces the frequency, rate or extent of ectoderm development. tmpxe7fu0cj_hp_relaxed.owl vk 2011-02-15T03:17:27Z biological_process owl:Class HP:0008629 biolink:NamedThing Pulsatile tinnitus Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0751559|SNOMEDCT_US:232322006|MSH:D014012 Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus. HP:0000361 owl:Class HP:0000360 biolink:NamedThing Tinnitus Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. tmpxe7fu0cj_hp_relaxed.owl Ringing in ears|Ringing in the ears SNOMEDCT_US:162349004|UMLS:C0040264|MSH:D014012|SNOMEDCT_US:60862001|SNOMEDCT_US:162352007 human_phenotype owl:Class HP:0100621 biolink:NamedThing Dysgerminoma The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary. tmpxe7fu0cj_hp_relaxed.owl NCIT:C2996|SNOMEDCT_US:60718004|MSH:D004407|UMLS:C0013377 doelkens 2010-12-28T11:47:47Z human_phenotype owl:Class HP:0100620 biolink:NamedThing Germinoma A type of undifferentiated germ cell tumor that may be benign or malignant. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:28307001|MSH:D018237|UMLS:C0206660 doelkens 2010-12-28T11:45:44Z human_phenotype owl:Class UBERON:0018227 biolink:NamedThing pulmonary lymphatic vessel A lymphatic vessel that is part of a lung. tmpxe7fu0cj_hp_relaxed.owl lymphatic vessel of lung FMA:234006 uberon owl:Class UBERON:0003456 biolink:NamedThing respiratory system lymphatic vessel A lymphatic vessel that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lymph vessel of apparatus respiratorius|lymphatic vessel of apparatus respiratorius|apparatus respiratorius lymphatic vessel|lymph vessel of respiratory system|apparatus respiratorius lymph vessel|respiratory system lymph vessel|lymphatic vessel of respiratory system MA:0001824|EMAPA:37580 uberon owl:Class HP:0006703 biolink:NamedThing Aplasia/Hypoplasia of the lungs tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped lungs|Absent/small lungs UMLS:C4024996 peter 2008-03-29T03:17:00Z owl:Class UBERON:0034670 biolink:NamedThing palatal taste bud A taste bud that is located on the soft palate, in the roof of the mouth. tmpxe7fu0cj_hp_relaxed.owl taste bud of palate uberon owl:Class In the mouse, Fungiform and palatal taste buds are innervated by the geniculate ganglion cells of the facial nerve[DOI:10.1523/JNEUROSCI.5142-05.2006] UBERON:0034722 biolink:NamedThing mouth roof taste bud A taste bud that is located on the roof of the mouth. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:1905902 biolink:NamedThing regulation of mesoderm formation Any process that modulates the frequency, rate or extent of mesoderm formation. tmpxe7fu0cj_hp_relaxed.owl rph 2017-02-03T12:28:20Z biological_process owl:Class UBERON:0008595 biolink:NamedThing levator anguli oris The levator anguli oris (caninus) is a facial muscle of the mouth arising from the canine fossa, immediately below the infraorbital foramen. Its fibers are inserted into the angle of the mouth, intermingling with those of the Zygomaticus, Triangularis, and Orbicularis oris. tmpxe7fu0cj_hp_relaxed.owl levator anguli oris muscle|musculus levator anguli oris|caninus|levator anguli oris|caninus muscle FMA:46822 uberon owl:Class UBERON:0001577 biolink:NamedThing facial muscle A muscle innervated by a facial nerve. tmpxe7fu0cj_hp_relaxed.owl muscle of face|facial muscle|face muscle|facial muscle proper|muscle of facil expression|muscle organ of face|cranio-facial muscle|face muscle organ|musculi faciei|facial nerve innervated muscle|facial nerve muscle|mimetic muscles|muscles of facial expression|craniofacial muscle|cranial-facial muscle FMA:46751|UMLS:C0015460|NCIT:C13073|GAID:143|MESH:D005152|MFMO:0000005|MA:0003160|XAO:0001013 http://upload.wikimedia.org/wikipedia/commons/f/fa/Gray378.png uberon owl:Class HP:0004900 biolink:NamedThing Severe lactic acidosis A severe form of lactic acidemia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839436 human_phenotype owl:Class HP:0003128 biolink:NamedThing Lactic acidosis An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. tmpxe7fu0cj_hp_relaxed.owl Hyperlacticacidemia|Lactic acidemia|Increased lactate in body|Lacticacidemia|Lacticacidosis SNOMEDCT_US:91273001|UMLS:C0001125|UMLS:C0347959|SNOMEDCT_US:190882007|MSH:D000140 Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably. HP:0005960|HP:0003255 human_phenotype owl:Class HP:0034050 biolink:NamedThing Elevated urinary prostaglandin E2 metabolite level An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine. tmpxe7fu0cj_hp_relaxed.owl 2021-10-19 16:57:43+00:00 In vivo, PGE2 is rapidly converted to its 13,14-dihydro-15-keto metabolite, with more than 90% of circulating PGE2 cleared by a single passage through the lungs. This metabolite is chemically unstable and undergoes a variable amount of degradation to prostaglandin A (PGA) products. Thus, plasma and urine samples from patients actually contain very little intact PGE2, and the PGE2 metabolites (PGEM) can be measured to provide a more reliable estimate of actual PGE2 production. peter owl:Class HP:0003527 biolink:NamedThing Hyperprostaglandinuria An increased concentration of prostaglandin in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine prostaglandin levels UMLS:C1866498 owl:Class GO:1900126 biolink:NamedThing negative regulation of hyaluronan biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of hyaluronan biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl downregulation of hyaluronan synthesis|inhibition of hyaluronan biosynthesis|downregulation of hyaluronan biosynthesis|negative regulation of hyaluronan anabolism|downregulation of hyaluronan formation|negative regulation of hyaluronan formation|down-regulation of hyaluronan formation|down regulation of hyaluronan biosynthesis|down-regulation of hyaluronan anabolism|down-regulation of hyaluronan synthesis|inhibition of hyaluronan biosynthetic process|down regulation of hyaluronan biosynthetic process|negative regulation of hyaluronan synthesis|down regulation of hyaluronan synthesis|down-regulation of hyaluronan biosynthesis|down regulation of hyaluronan anabolism|downregulation of hyaluronan anabolism|down regulation of hyaluronan formation|inhibition of hyaluronan synthesis|down-regulation of hyaluronan biosynthetic process|inhibition of hyaluronan formation|downregulation of hyaluronan biosynthetic process|inhibition of hyaluronan anabolism|negative regulation of hyaluronan biosynthesis yaf 2012-02-23T01:09:29Z biological_process owl:Class GO:1900125 biolink:NamedThing regulation of hyaluronan biosynthetic process Any process that modulates the frequency, rate or extent of hyaluronan biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl regulation of hyaluronan formation|regulation of hyaluronan biosynthesis|regulation of hyaluronan anabolism|regulation of hyaluronan synthesis yaf 2012-02-23T01:09:21Z biological_process owl:Class HP:0032552 biolink:NamedThing Abnormal pulse An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart. tmpxe7fu0cj_hp_relaxed.owl 2019-06-14 10:43:44+00:00 peter owl:Class HP:0011734 biolink:NamedThing Central adrenal insufficiency A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected. tmpxe7fu0cj_hp_relaxed.owl Secondary adrenal insufficiency UMLS:C0948387 peter 2012-04-21T08:26:19Z human_phenotype owl:Class HP:0000846 biolink:NamedThing Adrenal insufficiency Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. tmpxe7fu0cj_hp_relaxed.owl Hypoadrenalism SNOMEDCT_US:237785004|SNOMEDCT_US:386584007|SNOMEDCT_US:111563005|UMLS:C0001623|MSH:D000309 Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation. HP:0008218|HP:0000865 human_phenotype owl:Class HP:0007354 biolink:NamedThing Amyotrophic lateral sclerosis tmpxe7fu0cj_hp_relaxed.owl Lou Gehrig's disease UMLS:C0002736|MSH:D000690|SNOMEDCT_US:86044005 human_phenotype owl:Class HP:0007373 biolink:NamedThing Motor neuron atrophy Wasting involving the motor neuron. tmpxe7fu0cj_hp_relaxed.owl Motor neuron degeneration UMLS:C4024896 peter 2008-04-01T10:39:00Z owl:Class GO:0098771 biolink:NamedThing inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0003345 biolink:NamedThing Elevated urinary norepinephrine An increased concentration of noradrenaline in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025626 human_phenotype owl:Class HP:0011976 biolink:NamedThing Elevated urinary catecholamines An increased concentration of catecholamine in the urine. tmpxe7fu0cj_hp_relaxed.owl Elevated urinary catecholamines UMLS:C0241577 peter 2012-07-18T09:07:22Z human_phenotype owl:Class PATO:0000912 biolink:NamedThing increased rate A rate which is relatively high. tmpxe7fu0cj_hp_relaxed.owl high rate|fast rate quality owl:Class PATO:0000161 biolink:NamedThing rate A quality of a single process inhering in a bearer by virtue of the bearer's occurrence per unit time. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class CHEBI:33366 biolink:NamedThing copper group element atom tmpxe7fu0cj_hp_relaxed.owl coinage metals|copper group element|copper group elements|group 11 elements chebi_ontology owl:Class CHEBI:27081 biolink:NamedThing transition element atom An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell. tmpxe7fu0cj_hp_relaxed.owl metal de transition|metaux de transition|metal de transicion|transition element|transition metals|metales de transicion|Uebergangselement|transition elements|Uebergangsmetalle|transition metal chebi_ontology owl:Class HP:0006679 biolink:NamedThing Granulomatous coronary arteritis Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025007 A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). human_phenotype owl:Class CHEBI:46701 biolink:NamedThing pyrrolidinemonocarboxylic acid tmpxe7fu0cj_hp_relaxed.owl pyrrolidinemonocarboxylic acids chebi_ontology owl:Class CHEBI:46767 biolink:NamedThing pyrrolidinecarboxylic acid tmpxe7fu0cj_hp_relaxed.owl pyrrolidinecarboxylic acids chebi_ontology owl:Class UBERON:0003055 biolink:NamedThing periderm A temporary epithelium that derives from the outer layer of the ectdoerm and is shed once the inner layer differentiates to form a true epidermis. tmpxe7fu0cj_hp_relaxed.owl epidermis epithelial layer|EVL|epitrichium|epidermis outer layer|periderm|skin periderm FMA:295662|VHOG:0001680|EHDAA:6538|NCIT:C34247|XAO:0000029|EHDAA2:0001846|TAO:0001185|UMLS:C1518973|ZFA:0001185 uberon owl:Class The outermost epidermal layer covering the fish at embryonic stages; derived from the EVL and thought to eventually be replaced by the superficial stratum of the epidermis. Sometimes used synonymously with EVL. Le Guellec et al, 2004.[TAO] relationship type change: OBO_REL:part_of ectoderm (TAO:0000016) CHANGED TO: develops_from ectoderm (UBERON:0000924)[TAO] In mice, the first non-basal layer formed at ~E9.5; it is a temporary structure composed of simple squamous epithelium that serves as the first barrier to the embryo's physical environment, exists throughout the entire keratinocyte stratification process, and sheds off at ~E17, when it is replaced by corneocytes[MP] In some mammals, Eyelid Fusion is thought to be driven by a population of cells which are derived from the periderm, the outermost layer of the developing epidermis|Originally the epidermis is one layer thick, in most vertebrates it soon becomes a two-layered structure. The outer layer gives rise to the periderm. The periderm goes through distinct developmental phases and is ultimately sloughed into the amniotic fluid when differentiation of the underlying epidermal layers is complete. The function of the periderm is not known, but is thought to be related to transport/exchange between the fetus and the amniotic fluid (http://courses.washington.edu/hubio567/devbio/periderm.html) UBERON:0000487 biolink:NamedThing simple squamous epithelium Unilaminar epithelium which consists of a single layer of squamous cells. Examples: pulmonary alveolar epithelium, endothelium.[FMA]. tmpxe7fu0cj_hp_relaxed.owl epithelium simplex squamosum|simple squamous epithelia NCIT:C13178|AEO:0000070|BTO:0002073|BILA:0000070|TAO:0001498|Wikipedia:Simple_squamous_epithelium|UMLS:C0836133|FMA:45565|XAO:0004010|EHDAA2:0003070|ZFA:0001498|AAO:0010066|CARO:0000070|HAO:0000070 Illu:epithelium.jpg uberon owl:Class Unilaminar epithelium that consists of a single layer of squamous cells.[CARO] HP:0100469 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 5th toe Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the outermost little toe bone|Uneven increase in bone density in the outermost pinkie toe bone|Uneven increase in bone density in the outermost pinky toe bone UMLS:C4022058 human_phenotype owl:Class HP:0100942 biolink:NamedThing Sclerosis of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the outermost bone of the pinkie toe|Increased bone density in the outermost bone of the little toe|Increased bone density in the outermost bone of the pinky toe UMLS:C4021916 human_phenotype owl:Class HP:0033883 biolink:NamedThing Abnormal cortical radial artery morphology Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney. tmpxe7fu0cj_hp_relaxed.owl Abnormal interlobular artery morphology 2021-06-23 19:58:07+00:00 peter owl:Class GO:0010872 biolink:NamedThing regulation of cholesterol esterification Any process that modulates the frequency, rate or extent of cholesterol esterification. Cholesterol esterification is the lipid modification process in which a sterol ester is formed by the combination of a carboxylic acid (often a fatty acid) and cholesterol. In the blood this process is associated with the conversion of free cholesterol into cholesteryl ester, which is then sequestered into the core of a lipoprotein particle. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0002573 biolink:NamedThing Hematochezia The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. tmpxe7fu0cj_hp_relaxed.owl Rectal bleeding|Recurrent rectal bleeding MSH:D006471|SNOMEDCT_US:236068001|SNOMEDCT_US:405729008|UMLS:C0018932 Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis. HP:0002609|HP:0002255 human_phenotype owl:Class HP:0002239 biolink:NamedThing Gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract. tmpxe7fu0cj_hp_relaxed.owl GI haemorrhage|Gastrointestinal haemorrhage|GI hemorrhage|Gastrointestinal bleeding MSH:D006471|SNOMEDCT_US:74474003|UMLS:C0017181 human_phenotype owl:Class GO:0050819 biolink:NamedThing negative regulation of coagulation Any process that stops, prevents, or reduces the frequency, rate or extent of coagulation. tmpxe7fu0cj_hp_relaxed.owl down regulation of coagulation|inhibition of coagulation|downregulation of coagulation|negative regulation of clotting|anticoagulant activity|down-regulation of coagulation biological_process owl:Class GO:0050818 biolink:NamedThing regulation of coagulation Any process that modulates the frequency, rate or extent of coagulation, the process in which a fluid solution, or part of it, changes into a solid or semisolid mass. tmpxe7fu0cj_hp_relaxed.owl regulation of clotting biological_process owl:Class UBERON:0001652 biolink:NamedThing left pulmonary artery The pulmonary artery that supplies the left lung. tmpxe7fu0cj_hp_relaxed.owl arteria pulmonalis sinistra|left main pulmonary artery|left pulmonary arterial tree FMA:50873|galen:LeftPulmonaryArtery|Wikipedia:Left_pulmonary_artery|UMLS:C0923925|MA:0002032|SCTID:244234004|NCIT:C32971|EMAPA:37097 Alveoli:diagram.png|http://upload.wikimedia.org/wikipedia/commons/f/f6/Gray504.png TODO - add class 'pulmonary artery tree organ' uberon owl:Class HP:0005146 biolink:NamedThing Cardiac valve calcification Abnormal calcification of a cardiac valve. tmpxe7fu0cj_hp_relaxed.owl Calcifications of the cardiac valves UMLS:C1856483 owl:Class HP:0011915 biolink:NamedThing Cardiovascular calcification Abnormal calcification in the cardiovascular system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023128 peter 2012-06-05T10:35:58Z owl:Class HP:0030201 biolink:NamedThing Response to drugs acting on neuromuscular transmission Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022582 owl:Class HP:0030191 biolink:NamedThing Abnormal peripheral nervous system synaptic transmission An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl Abnormal PNS synaptic transmission UMLS:C4021046 owl:Class GO:0048209 biolink:NamedThing regulation of vesicle targeting, to, from or within Golgi Any process that modulates the frequency, rate, or destination of vesicle-mediated transport to, from or within the Golgi apparatus. tmpxe7fu0cj_hp_relaxed.owl regulation of Golgi vesicle targeting biological_process owl:Class GO:0060341 biolink:NamedThing regulation of cellular localization Any process that modulates the frequency, rate or extent of a process in which a cell, a substance, or a cellular entity is transported to, or maintained in a specific location within or in the membrane of a cell. tmpxe7fu0cj_hp_relaxed.owl regulation of cellular localisation biological_process owl:Class HP:0002841 biolink:NamedThing Recurrent fungal infections Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection. tmpxe7fu0cj_hp_relaxed.owl Recurrent fungal infections UMLS:C1844384 HP:0005380|HP:0005388|HP:0005350 human_phenotype owl:Class HP:0002719 biolink:NamedThing Recurrent infections Increased susceptibility to infections. tmpxe7fu0cj_hp_relaxed.owl infections, recurrent|Predisposition to infections|Susceptibility to infection|Frequent infections|Frequent, severe infections|Increased frequency of infection|Recurrent infections UMLS:C0239998 HP:0002964|HP:0005405|HP:0002957 owl:Class UBERON:0003562 biolink:NamedThing midbrain dura mater A dura mater that is part of a midbrain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl dura mater of midbrain|dura mater of neuraxis of midbrain|midbrain dura mater of neuraxis|mesencephalon dura mater VHOG:0000410|MA:0001060|EMAPA:17793 uberon owl:Class Dura mater that is part of the midbrain. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] UBERON:0002363 biolink:NamedThing dura mater Thick, fibrous meningeal covering surrounding the brain and spinal cord. It is the outermost of the three meningeal coverings. It consists of two layers: the periosteal dura linking the inner surface of the skull and the meningeal dura that lies above the arachnoid dural membrane. The meningeal layer draws away from the periosteal layer and certain locations to form the dural reflections. tmpxe7fu0cj_hp_relaxed.owl pachymeninges|dura mater of neuraxis|dura GAID:691|UMLS:C0013313|OpenCyc:Mx4rvvmzqZwpEbGdrcN5Y29ycA|MA:0001115|BTO:0001637|EMAPA:32664|SCTID:362301008|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1462|MESH:D004388|FMA:9592|Wikipedia:Dura_mater|EV:0100313|CALOHA:TS-2008|NCIT:C32488|NLXANAT:090206 http://upload.wikimedia.org/wikipedia/commons/8/8e/Meninges-en.svg uberon owl:Class the outermost of the three layers of the meninges surrounding the brain and spinal cord. The other two meningeal layers are the pia mater and the arachnoid mater. The dura surrounds the brain and the spinal cord and is responsible for keeping in the cerebrospinal fluid[Wikipedia:Dura_mater]. capable of inducing chondrogenesis - requires contact with an epithelium - http://www.ncbi.nlm.nih.gov/pubmed/16496288 some ontologies consider dura mater part of the CNS, others dispute this and claim it surrounds it (e.g. DOI:10.1111/joa.12381)[https://github.com/obophenotype/uberon/issues/1261] CHEBI:24020 biolink:NamedThing fat-soluble vitamin (role) Any vitamin that dissolves in fats and are stored in body tissues. Unlike the water-soluble vitamins, they are stored in the body for long periods of time and generally pose a greater risk for toxicity when consumed in excess. tmpxe7fu0cj_hp_relaxed.owl fat-soluble vitamin|fat-soluble vitamins|fettloesliche Vitamine PMID:33549284|PMID:31838543|PMID:32057251|PMID:34045883 chebi_ontology owl:Class CHEBI:33229 biolink:NamedThing vitamin (role) A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines. tmpxe7fu0cj_hp_relaxed.owl vitamina|vitamine|vitamins|vitaminas|vitamin|vitaminum|vitamines Wikipedia:Vitamin CHEBI:27305|CHEBI:10004 chebi_ontology owl:Class HP:0005256 biolink:NamedThing Unilateral absence of pectoralis major muscle Aplasia (congenital absence) of the pectoralis minor on only one side of the chest. tmpxe7fu0cj_hp_relaxed.owl Unilateral aplasia of pectoralis major muscle UMLS:C4021639 human_phenotype owl:Class HP:0000223 biolink:NamedThing Abnormality of taste sensation tmpxe7fu0cj_hp_relaxed.owl Abnormality of taste sensation UMLS:C4025879 owl:Class HP:0030387 biolink:NamedThing Increased proportion of class-switched memory B cells An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. tmpxe7fu0cj_hp_relaxed.owl Increased proportion of CD19+CD27+IgD- cells UMLS:C4073288 owl:Class HP:0030375 biolink:NamedThing Increased proportion of memory B cells An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072914 owl:Class UBERON:0010567 biolink:NamedThing manual digit 3 metacarpus pre-cartilage condensation A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 3 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl finger 3 metacarpus pre-cartilage condensation|fore limb digit 3 metacarpus pre-cartilage condensation|metacarpal 3 pre-cartilage condensation|manual digit III metacarpus pre-cartilage condensation|hand digit 3 metacarpus pre-cartilage condensation EMAPA:17718|EHDAA2:0000527 uberon owl:Class UBERON:0015045 biolink:NamedThing manual digit 3 metacarpus endochondral element A manual digit 3 metacarpus bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl manual digit 3 metacarpus skeletal element|manual digit 3 metacarpus element|manual digit III metacarpus endochondral element uberon owl:Class HP:0031324 biolink:NamedThing Myocardial multinucleated giant cells The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 12:15:15+00:00 peter owl:Class HP:0031321 biolink:NamedThing Myocardial immune cell infiltration An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium). tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 12:06:55+00:00 peter owl:Class HP:0032488 biolink:NamedThing Abnormal fecal pH Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline. tmpxe7fu0cj_hp_relaxed.owl Abnormal faecal pH 2019-04-11 11:44:26+00:00 peter owl:Class MAXO:0010358 biolink:NamedThing angiography procedure The X-ray examination of the blood vessels or chambers of the heart. tmpxe7fu0cj_hp_relaxed.owl blood vasculature radiogram procedure|radiography of blood vasculature|blood vasculature X-ray procedure|angiography|radiograph of blood vasculature 2020-04-07T20:39:14Z NCIT:C20080 http://orcid.org/0000-0001-7941-2961 owl:Class MAXO:0010365 biolink:NamedThing total body radiography procedure A radiologic test that involves the examination of the entire body in a single procedure. tmpxe7fu0cj_hp_relaxed.owl radiography of multicellular organism|multicellular organism X-ray procedure|whole body radiography|multicellular organism radiogram procedure|radiograph of multicellular organism|total body radiography 2020-04-27T20:39:14Z NCIT:C96640 http://orcid.org/0000-0001-7941-2961 owl:Class HP:4000035 biolink:NamedThing Primary obstructive megaureter Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 19:57:12+00:00 robinp owl:Class HP:0000072 biolink:NamedThing Hydroureter The distention of the ureter with urine. tmpxe7fu0cj_hp_relaxed.owl Ureteral dilatation|Dilated ureter|Uroureter|Wide ureter|Swelling of ureter|Megaureter SNOMEDCT_US:69758005|UMLS:C4020897|UMLS:C0521620|SNOMEDCT_US:95576001 HP:0006003 owl:Class CHEBI:28875 biolink:NamedThing tetradecanoic acid A straight-chain, fourteen-carbon, long-chain saturated fatty acid mostly found in milk fat. tmpxe7fu0cj_hp_relaxed.owl tetradecoic acid|myristic acid|acide tetradecanoique|n-tetradecanoic acid|Myristic acid|C14|1-tetradecanecarboxylic acid|14:0|14:00|CH3-[CH2]12-COOH|Myristinsaeure|14|n-Tetradecoic acid|Tetradecanoic acid|MYRISTIC ACID|n-Tetradecan-1-oic acid 0 C14H28O2 InChI=1S/C14H28O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14(15)16/h2-13H2,1H3,(H,15,16) TUNFSRHWOTWDNC-UHFFFAOYSA-N 228.37090 228.20893 CCCCCCCCCCCCCC(O)=O PMID:20920594|PMID:19154695|PMID:22030224|KEGG:C06424|PMID:28600633|HMDB:HMDB0000806|PMID:6802973|PMID:19786012|PMID:20634506|PMID:13129458|PMID:21955528|PMID:16554156|PMID:19955401|Reaxys:508624|PMID:19902021|Gmelin:242115|DrugBank:DB08231|LIPID_MAPS_instance:LMFA01010014|PMID:15149689|Beilstein:508624|MetaCyc:CPD-7836|Wikipedia:Myristic_acid|CAS:544-63-8|PMID:19761868|PMID:16509590|PDBeChem:MYR|KNApSAcK:C00001228|PMID:27206979 CHEBI:7056|CHEBI:44232|CHEBI:26897|CHEBI:73168|CHEBI:278516 chebi_ontology owl:Class HP:0008102 biolink:NamedThing Expanded metatarsals with widened medullary cavities tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969289 human_phenotype owl:Class HP:0001832 biolink:NamedThing Abnormal metatarsal morphology Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). tmpxe7fu0cj_hp_relaxed.owl Abnormality of the long bone of foot UMLS:C4025745 owl:Class HP:0001833 biolink:NamedThing Long foot Increased back to front length of the foot. tmpxe7fu0cj_hp_relaxed.owl large feet|Disproportionately large feet|long feet|Long foot SNOMEDCT_US:299462005|UMLS:C0576225 HP:0008136|HP:0008143 human_phenotype owl:Class HP:0009336 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 3rd finger An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the outermost bone of the middle finger UMLS:C4024431 doelkens 2009-01-12T11:18:33Z human_phenotype owl:Class HP:0009411 biolink:NamedThing Bracket epiphyses of the 3rd finger An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of middle finger bone UMLS:C4024382 doelkens 2009-01-14T02:01:59Z human_phenotype owl:Class PATO:0000647 biolink:NamedThing necrotic A structural quality inhering in a bearer by virtue of the bearer's undergoing unprogrammed cell death. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0034002 biolink:NamedThing Anti-phospholipase A2 receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor. tmpxe7fu0cj_hp_relaxed.owl Anti-PLA2R antibody positivity 2021-08-21 14:45:11+00:00 peter owl:Class UBERON:0000317 biolink:NamedThing colonic mucosa Mucosa that is part of a colon. The mucosa of the colon is lined by a simple columnar epithelium with a thin brush border and numerous goblet cells. tmpxe7fu0cj_hp_relaxed.owl colonic mucosa|colon mucous membrane|colonic mucous membrane|mucosa of colon|mucosa of large bowel|large bowel mucosa|colon mucosa FMA:85388|MA:0003194|CALOHA:TS-0164|EMAPA:27375|EFO:0003038|BTO:0000271|FMA:14984 UBERON:0004981|UBERON:0003347 uberon owl:Class UBERON:0001207 biolink:NamedThing mucosa of large intestine A mucosa that is part of a large intestine [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl organ mucosa of large intestine|large intestine mucosa of organ|large intestinal mucosa|mucous membrane of large intestine|large intestine mucosa|large intestine mucous membrane|mucosa of organ of large intestine|tunica mucosa intestini crassi|large intestine organ mucosa NCIT:C32926|CALOHA:TS-2106|UMLS:C0734203|MA:0002688|FMA:14969|EMAPA:35467 uberon owl:Class HP:0030999 biolink:NamedThing Abnormal vestibular saccule morphology Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement). tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 18:38:27+00:00 peter owl:Class GO:0030903 biolink:NamedThing notochord development The process whose specific outcome is the progression of the notochord over time, from its formation to the mature structure. The notochord is a mesoderm-derived structure located ventral of the developing nerve cord. In vertebrates, the notochord serves as a core around which other mesodermal cells form the vertebrae. In the most primitive chordates, which lack vertebrae, the notochord persists as a substitute for a vertebral column. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0048568 biolink:NamedThing embryonic organ development Development, taking place during the embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. tmpxe7fu0cj_hp_relaxed.owl embryonic organogenesis biological_process owl:Class GO:0060142 biolink:NamedThing regulation of syncytium formation by plasma membrane fusion Any process that modulates the frequency, rate or extent of the formation of a syncytium, a mass of cytoplasm containing several nuclei enclosed within a single plasma membrane, by the fusion of the plasma membranes of two or more individual cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1902258 biolink:NamedThing positive regulation of apoptotic process involved in outflow tract morphogenesis Any process that activates or increases the frequency, rate or extent of apoptotic process involved in outflow tract morphogenesis. tmpxe7fu0cj_hp_relaxed.owl up-regulation of apoptosis involved in outflow tract morphogenesis|activation of apoptotic process involved in outflow tract morphogenesis|upregulation of apoptosis involved in outflow tract morphogenesis|up-regulation of apoptotic process involved in outflow tract morphogenesis|positive regulation of apoptosis involved in outflow tract morphogenesis|upregulation of apoptotic process involved in outflow tract morphogenesis|up regulation of apoptosis involved in outflow tract morphogenesis|up regulation of apoptotic process involved in outflow tract morphogenesis|activation of apoptosis involved in outflow tract morphogenesis dph 2013-06-24T19:12:42Z biological_process owl:Class HP:0011611 biolink:NamedThing Interrupted aortic arch Non-continuity of the arch of aorta with an atretic point or absent segment. tmpxe7fu0cj_hp_relaxed.owl Aortic arch obstruction|Atretic transverse aortic arch Fyler:1250|Fyler:1241|UMLS:C0152419|SNOMEDCT_US:218728005 peter 2012-04-08T03:17:10Z HP:0006680 human_phenotype owl:Class HP:0012303 biolink:NamedThing Abnormal aortic arch morphology An anomaly of the arch of aorta. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the aortic arch SNOMEDCT_US:448742006|UMLS:C3163801|Fyler:2700 peter 2013-08-06T10:06:07Z human_phenotype owl:Class PATO:0002083 biolink:NamedThing altered number of Having extra or fewer parts. tmpxe7fu0cj_hp_relaxed.owl 2009-09-21T10:41:58Z quality owl:Class PATO:0000051 biolink:NamedThing morphology A quality of a single physical entity inhering in the bearer by virtue of the bearer's size or shape or structure. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0030161 biolink:NamedThing Vaginal pruritus A sensation of itching in the vagina. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:34363003|UMLS:C0042256 owl:Class HP:0000142 biolink:NamedThing Abnormal vagina morphology Any structural abnormality of the vagina. tmpxe7fu0cj_hp_relaxed.owl Vaginal malformation UMLS:C1856023 HP:0008650 human_phenotype owl:Class HP:0034084 biolink:NamedThing Anti-phosphatidyl ethanolamine antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 02:34:15+00:00 peter owl:Class HP:0011792 biolink:NamedThing Neoplasm by histology Neoplasm categorized according to type of histological abnormality. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023186 peter 2012-04-22T06:57:50Z human_phenotype owl:Class HP:0032636 biolink:NamedThing Tubulointerstitial viral infiltration Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. tmpxe7fu0cj_hp_relaxed.owl Renal tubulointerstitial viral inclusions peter owl:Class HP:0001969 biolink:NamedThing Abnormal tubulointerstitial morphology An abnormality that involves the tubules and interstitial tissue of the kidney. tmpxe7fu0cj_hp_relaxed.owl Tubulointerstitial nephropathy|Tubulointerstitial abnormality UMLS:C4025732|MSH:D009395|SNOMEDCT_US:428255004|UMLS:C0041349|SNOMEDCT_US:28689008 HP:0008654 human_phenotype owl:Class HP:0025588 biolink:NamedThing Hypodeviation A type of strabismus in which the visual axis of one eye is lower than that of the other. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 19:50:55+00:00 Hypophoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypotropia is a manifest deviation in which the eyes are not aligned under binocular conditions. HPO:probinson owl:Class HP:0000486 biolink:NamedThing Strabismus A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. tmpxe7fu0cj_hp_relaxed.owl Cross-eyed|Squint eyes|Squint MSH:D013285|SNOMEDCT_US:128602000|UMLS:C0038379|SNOMEDCT_US:22066006 HP:0000487 human_phenotype owl:Class HP:0009510 biolink:NamedThing Small epiphysis of the distal phalanx of the 2nd finger Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of the outermost bone of the index finger UMLS:C4024321 doelkens 2009-01-16T01:11:04Z human_phenotype owl:Class HP:0009319 biolink:NamedThing Joint contracture of the 3rd finger Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected. tmpxe7fu0cj_hp_relaxed.owl Camptodactyly of middle finger UMLS:C4021492 doelkens 2009-01-12T11:05:43Z HP:0004151 human_phenotype owl:Class HP:0012785 biolink:NamedThing Flexion contracture of finger Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. tmpxe7fu0cj_hp_relaxed.owl Flexion deformity of finger UMLS:C1857304 Note that the term camptodactyly refers to a painless flexion contracture of the proximal interphalangeal (PIP) joint and not to a finger joint contracture in general. peter 2014-04-20T04:09:34Z human_phenotype owl:Class GO:0006446 biolink:NamedThing regulation of translational initiation Any process that modulates the frequency, rate or extent of translational initiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0011894 biolink:NamedThing lumen of vagina An organ cavity that is part of a vagina. tmpxe7fu0cj_hp_relaxed.owl vaginal lumen FMA:19982 uberon owl:Class UBERON:0002558 biolink:NamedThing organ cavity tmpxe7fu0cj_hp_relaxed.owl cavity of organ SCTID:362606005|FMA:12237|BIRNLEX:1019 uberon owl:Class GO:0006142 biolink:NamedThing regulation of pyrimidine nucleobase metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. tmpxe7fu0cj_hp_relaxed.owl regulation of pyrimidine base metabolism|regulation of pyrimidine base metabolic process biological_process owl:Class GO:0019219 biolink:NamedThing regulation of nucleobase-containing compound metabolic process Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpxe7fu0cj_hp_relaxed.owl regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process biological_process owl:Class HP:0025493 biolink:NamedThing Palmoplantar erythema Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 19:34:38+00:00 HPO:probinson owl:Class HP:0010783 biolink:NamedThing Erythema Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. tmpxe7fu0cj_hp_relaxed.owl Redness of skin or mucous membrane UMLS:C0041834|SNOMEDCT_US:20255002|SNOMEDCT_US:238810007|MSH:D004890|SNOMEDCT_US:444827008|SNOMEDCT_US:70819003|UMLS:C0016382|SNOMEDCT_US:86735004|MSH:D005483|SNOMEDCT_US:247441003|SNOMEDCT_US:271811009 peter 2010-04-30T11:40:43Z owl:Class HP:0100763 biolink:NamedThing Abnormality of the lymphatic system An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. tmpxe7fu0cj_hp_relaxed.owl Lymphatic disease SNOMEDCT_US:234087005|SNOMEDCT_US:111590001|SNOMEDCT_US:3305006|UMLS:C0024228|MSH:D008206|UMLS:C4021976|SNOMEDCT_US:362971004 doelkens 2011-06-07T10:40:36Z HP:0003012 owl:Class HP:0011871 biolink:NamedThing Impaired ristocetin-induced platelet aggregation Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023154 peter 2012-05-30T05:39:52Z human_phenotype owl:Class HP:0012146 biolink:NamedThing Abnormality of von Willebrand factor Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023023 peter 2012-09-16T08:25:58Z human_phenotype owl:Class GO:0030502 biolink:NamedThing negative regulation of bone mineralization Any process that stops, prevents, or reduces the frequency, rate or extent of bone mineralization. tmpxe7fu0cj_hp_relaxed.owl down regulation of bone mineralization|inhibition of bone mineralization|downregulation of bone mineralization|down-regulation of bone mineralization biological_process owl:Class GO:0030279 biolink:NamedThing negative regulation of ossification Any process that stops, prevents, or reduces the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpxe7fu0cj_hp_relaxed.owl inhibition of ossification|negative regulation of bone formation|downregulation of ossification|negative regulation of bone biosynthesis|down-regulation of ossification|down regulation of ossification biological_process owl:Class HP:0007372 biolink:NamedThing Atrophy/Degeneration involving the corticospinal tracts tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024897 peter 2008-04-01T10:38:00Z owl:Class HP:0007367 biolink:NamedThing Atrophy/Degeneration affecting the central nervous system tmpxe7fu0cj_hp_relaxed.owl Atrophy/Degeneration affecting the CNS UMLS:C4024899 peter 2008-04-01T10:23:00Z owl:Class UBERON:0002446 biolink:NamedThing patella A large sesamoid bone found in the distal femur/proximal tibial region of the hindlimb of tetrapods. The patella is the attachment site for proximal hindlimb tendons.[PHENOSCAPE:ad]. tmpxe7fu0cj_hp_relaxed.owl knee cap|patella|knee bone EMAPA:35668|MESH:A02.835.232.500.624|galen:Patella|FMA:24485|GAID:203|MA:0001374|UMLS:C0030647|NCIT:C33282 The patella, also known as the knee cap or kneepan, is the largest sesamoid bone in the human body. The primary functional role of the patella is knee extension. The patella has convergently evolved in placental mammals and birds; marsupials have only rudimentary, non-ossified patellae. In more primitive tetrapods, including living amphibians and reptiles, the muscle tendons from the upper leg are attached directly to the tibia, and the patella is not present. See also: fabella. Knee:diagram.svg uberon owl:Class patellar GO:0090026 biolink:NamedThing positive regulation of monocyte chemotaxis Any process that increases the frequency, rate, or extent of monocyte chemotaxis. tmpxe7fu0cj_hp_relaxed.owl tb 2009-08-03T10:18:54Z biological_process owl:Class GO:1905954 biolink:NamedThing positive regulation of lipid localization Any process that activates or increases the frequency, rate or extent of lipid localization. tmpxe7fu0cj_hp_relaxed.owl positive regulation of lipid localisation|up-regulation of lipid localisation|upregulation of lipid localisation|activation of lipid localization|up-regulation of lipid localization|up regulation of lipid localisation|upregulation of lipid localization|up regulation of lipid localization|activation of lipid localisation rz 2017-02-21T12:12:49Z biological_process owl:Class GO:0050805 biolink:NamedThing negative regulation of synaptic transmission Any process that stops, prevents, or reduces the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. tmpxe7fu0cj_hp_relaxed.owl down-regulation of synaptic transmission|inhibition of synaptic transmission|down regulation of synaptic transmission|downregulation of synaptic transmission biological_process owl:Class GO:0050804 biolink:NamedThing modulation of chemical synaptic transmission Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. tmpxe7fu0cj_hp_relaxed.owl regulation of chemical synaptic transmission|modulation of synaptic transmission|regulation of synaptic transmission biological_process owl:Class HP:0002396 biolink:NamedThing Cogwheel rigidity A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:55630000|MSH:D009127|UMLS:C0151564 Cogwheel rigidity is a typical manifestation of Parkinson disease. human_phenotype owl:Class HP:0002063 biolink:NamedThing Rigidity Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. tmpxe7fu0cj_hp_relaxed.owl Rigidity|Muscle rigidity MSH:D009127|SNOMEDCT_US:16046003|UMLS:C0026837 Rigidity is often a manifestation of basal ganglia diseases. human_phenotype owl:Class CL:0000240 biolink:NamedThing stratified squamous epithelial cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class CL:0000079 biolink:NamedThing stratified epithelial cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class PATO:0000467 biolink:NamedThing present A quality inhering in a bearer by virtue of the bearer's existence. tmpxe7fu0cj_hp_relaxed.owl present in organism quality owl:Class PATO:0000070 biolink:NamedThing amount The number of entities of this type that are part of the whole organism. tmpxe7fu0cj_hp_relaxed.owl quantitative|presence or absence in organism|presence|count in organism|number This term was originally named "presence". It has been renamed to reduce ambiguity. Consider annotating with the reciprocal relation,PATO:0001555, has_number_of. For example, rather than E=fin ray Q=count in organism C=10, say E=organism Q=has number of E2= fin ray C=10. PATO:0001226|PATO:0000071|PATO:0001169|PATO:0000053 quality owl:Class GO:0051174 biolink:NamedThing regulation of phosphorus metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. tmpxe7fu0cj_hp_relaxed.owl regulation of phosphorus metabolism biological_process owl:Class UBERON:0011265 biolink:NamedThing carpometacarpal joint of digit 1 A carpometacarpal joint that connects to metacarpal 1. tmpxe7fu0cj_hp_relaxed.owl trapeziometacarpal joint|carpometacarpal joint of digit I|carpometacarpal joint of thumb|carpometacarpal joint of pollex|carpometacarpal joint of the thumb|TMJ FMA:35421 uberon owl:Class In humans it connects the trapezium to the first metacarpal bone, plays an irreplaceable role in the normal functioning of the thumb. The most important joint connecting the wrist to the metacarpus, osteoarthritis of the TMC is a severely disabling condition; up to twenty times more common among old women than in average HP:0003431 biolink:NamedThing Decreased motor nerve conduction velocity A type of decreased nerve conduction velocity that affects the motor neuron. tmpxe7fu0cj_hp_relaxed.owl Reduced motor nerve conduction velocity|Decreased motor NCV|Decreased motor nerve conduction velocities UMLS:C1858729 Newborn infants have values that are approximately half that of adults, and adult values are normally reached by age 3 or 4. Motor nerve conduction is evaluated by recording the compound muscle action potential (CMAP) associated with a mechanical contraction of a given muscle in response to electrical stimulation of the motor nerve fibers supplying that muscle. The CMAP is the sum of all the action potentials occurring individually in the contracting muscle fibers. HP:0000760|HP:0006907|HP:0003379|HP:0003395|HP:0003437|HP:0008170 human_phenotype owl:Class HP:0040131 biolink:NamedThing Abnormal motor nerve conduction velocity tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021031 HPO:skoehler owl:Class HP:0006400 biolink:NamedThing Absent knee epiphyses tmpxe7fu0cj_hp_relaxed.owl Absent knee end part UMLS:C1859462 human_phenotype owl:Class UBERON:0004370 biolink:NamedThing anterior limiting lamina of cornea A transparent homogeneous acellular layer, 6 to 9 um thick, lying between the basal lamina of the outer layer of stratified epithelium and the substantia propria of the cornea; it is considered to be a basement membrane. tmpxe7fu0cj_hp_relaxed.owl anterior limiting lamina of cornea|lamina limitans anterior corneae|Bowman's membrane|anterior limiting lamina|Bowman's anterior elastic lamina|anterior elastic lamina|Reichert's membrane|anterior limiting membrane|Bowman's layer|lamina limitans anterior (cornea) FMA:58273|UMLS:C0229127|TAO:0002155|ZFA:0001684|MA:0001240|Wikipedia:Bowman%27s_membrane|SCTID:281075003|NCIT:C32226 uberon owl:Class Acellular anatomical structure that is the zone of collagen fibers adjacent the basement membrane of the corneal epithelium.[TAO] Compared to terrestial animals, the cornea of zebrafish is relatively flat. It consists of nonpigmented, stratified squamous nonkeratinizing epithelial cells, attached to a thick basement membrane that is considered to be analogous to the Bowman's membrane in mammals HP:0003191 biolink:NamedThing Cleft ala nasi The presence of a notch in the margin of the ala nasi. tmpxe7fu0cj_hp_relaxed.owl Cleft nasal alae|Nostril coloboma|Alar clefts|Notched nasal alae|Cleft nostril|Ala nasi, cleft UMLS:C1844537 The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a cleft ala nasi, but have a severely Underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. The term coloboma has been replaced because a coloboma is a remnant of a physiologically occurring discontinuity of tissue; the alae nasi do not have such a discontinuity. HP:0004412 human_phenotype owl:Class HP:0000429 biolink:NamedThing Abnormality of the nasal alae An abnormality of the Ala of nose. tmpxe7fu0cj_hp_relaxed.owl Malformation of the nasal ala|Deformity of the nasal alar cartilage|Deformity of the nasal ala|Abnormality of the nasal ala|Abnormality of the nasal alar cartilage|Malformation of the nasal alar cartilage UMLS:C2227020|UMLS:C4280632|UMLS:C4021804|UMLS:C4280631 The nasal ala is the tissue comprising the lateral boundary of the nose, inferiorly, surrounding the naris. human_phenotype owl:Class HP:0011868 biolink:NamedThing Sciatica Pain in the lower back and hip radiating in the distribution of the sciatic nerve. tmpxe7fu0cj_hp_relaxed.owl MSH:D012585|UMLS:C0036396|SNOMEDCT_US:23056005 peter 2012-05-28T10:34:09Z human_phenotype owl:Class HP:0003418 biolink:NamedThing Back pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. tmpxe7fu0cj_hp_relaxed.owl Back pain UMLS:C0004604|SNOMEDCT_US:161891005|MSH:D001416 owl:Class HP:0002150 biolink:NamedThing Hypercalciuria tmpxe7fu0cj_hp_relaxed.owl Hypercalcinuria|Elevated urine calcium levels MSH:D053565|UMLS:C0020438|SNOMEDCT_US:71938000 human_phenotype owl:Class HP:0011280 biolink:NamedThing Abnormality of urine calcium concentration An abnormality of calcium concentration in the urine. tmpxe7fu0cj_hp_relaxed.owl Abnormality of urine Ca2+ concentration|Abnormality of urine Ca concentration UMLS:C4023434 peter 2011-12-30T03:27:02Z owl:Class HP:0500166 biolink:NamedThing Abnormal circulating gastrin concentration An abnormal concentration of gastrin in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating gastrin level 2018-11-05 18:46:36+00:00 owl:Class HP:0033898 biolink:NamedThing Arcuate artery intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney. tmpxe7fu0cj_hp_relaxed.owl Intraluminal thrombi within arcuate arterial lumen 2021-06-23 22:25:15+00:00 peter owl:Class HP:0033896 biolink:NamedThing Abnormal arcuate artery lumen morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney. tmpxe7fu0cj_hp_relaxed.owl Abnormalities of the arcuate arterial lumen 2021-06-23 22:21:46+00:00 peter owl:Class HP:0009997 biolink:NamedThing Duplication of phalanx of hand This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. tmpxe7fu0cj_hp_relaxed.owl Duplication of finger bones UMLS:C4021349 doelkens 2009-05-26T02:28:25Z HP:0009143 human_phenotype owl:Class CHEBI:51689 biolink:NamedThing enone An alpha,beta-unsaturated ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) in which the C=O function is conjugated to a C=C double bond at the alpha,beta position. tmpxe7fu0cj_hp_relaxed.owl enones 0 C3OR4 52.03150 51.99491 [*]\C([*])=C(\[*])C([*])=O Wikipedia:Enone chebi_ontology owl:Class HP:0011829 biolink:NamedThing Narrow philtrum Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum. tmpxe7fu0cj_hp_relaxed.owl Philtrum, Narrow|Decreased breadth of philtrum|Decreased width of philtrum|Decreased transverse dimension of philtrum|Thin philtrum|Decreased horizontal dimension of philtrum UMLS:C4021115 Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. peter 2012-05-01T10:38:12Z human_phenotype owl:Class UBERON:0004443 biolink:NamedThing proximal epiphysis of proximal phalanx of manual digit 5 A proximal epiphysis that is part of a proximal phalanx of manual digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal epiphysis of proximal phalanx of manual digit V|proximal epiphysis of proximal phalanx of little finger|base of proximal phalanx of fifth finger|base of proximal phalanx of little finger|base of proximal phalanx of fifth digit of hand|basal epiphysis of proximal phalanx of little finger FMA:37535 uberon owl:Class UBERON:0004421 biolink:NamedThing proximal epiphysis of phalanx of manual digit 5 A proximal epiphysis that is part of a manual digit 5 phalanx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl basal epiphysis of phalanx of fifth finger|base of phalanx of little finger|base of phalanx of fifth finger|proximal epiphysis of phalanx of manual digit 5|base of phalanx of fifth digit of hand|proximal epiphysis of phalanx of manual digit V|basal epiphysis of phalanx of little finger|proximal epiphysis of phalanx of little finger FMA:37534 uberon owl:Class PATO:0002097 biolink:NamedThing neoplastic, malignant A disposition inhering in a tumour by virtue of the bearer's disposition to progress, invade surrounding tissues or metastasize. tmpxe7fu0cj_hp_relaxed.owl 2009-10-05T12:50:22Z quality owl:Class PATO:0002011 biolink:NamedThing neoplastic A structural quality which is held by a bearer when the latter's disposition the presence of abnormally proliferating masses of cells. tmpxe7fu0cj_hp_relaxed.owl tumorous quality owl:Class HP:0001956 biolink:NamedThing Truncal obesity Obesity located preferentially in the trunk of the body as opposed to the extremities. tmpxe7fu0cj_hp_relaxed.owl Centripetal obesity|Truncal obesity UMLS:C0311277|MSH:D056128|SNOMEDCT_US:248311001 HP:0008885 human_phenotype owl:Class GO:0002699 biolink:NamedThing positive regulation of immune effector process Any process that activates or increases the frequency, rate, or extent of an immune effector process. tmpxe7fu0cj_hp_relaxed.owl up-regulation of immune effector process|up regulation of immune effector process|upregulation of immune effector process|stimulation of immune effector process|activation of immune effector process biological_process owl:Class UBERON:0010348 biolink:NamedThing hyoid pre-muscle mass tmpxe7fu0cj_hp_relaxed.owl hyoid muscle plate EHDAA2:0000795 uberon owl:Class HP:0032353 biolink:NamedThing Leucinuria Increased level of leucine in urine. tmpxe7fu0cj_hp_relaxed.owl 2019-02-23 16:51:08+00:00 peter owl:Class HP:0033089 biolink:NamedThing Branched-chain aminoaciduria An increased level of a branched chain family amino acid in the urine. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0020122 biolink:NamedThing Bite cells Red blood cells that appear to have parts of them bitten away. tmpxe7fu0cj_hp_relaxed.owl Degmacytes|Blister cells This feature can be observed with acute hemolytic anemia (AHA) related to glucose-6-phosphate dehydrogenase (G6PD) deficiency. In this disorder, AHA can be triggered by ingestion of fave beans, infections, and certain medications. The blood film can show poikilocytosis with bite cells. robinp 2019-07-02 20:24:07+00:00 owl:Class HP:0002578 biolink:NamedThing Gastroparesis Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. tmpxe7fu0cj_hp_relaxed.owl Delayed gastric emptying MSH:D018589|UMLS:C0152020|SNOMEDCT_US:196753007|SNOMEDCT_US:235675006 human_phenotype owl:Class HP:0011804 biolink:NamedThing Abnormal muscle physiology A functional abnormality of a skeletal muscle. tmpxe7fu0cj_hp_relaxed.owl Issue with muscle function|Abnormality of muscle physiology UMLS:C4023182 peter 2012-04-25T02:00:15Z human_phenotype owl:Class HP:0010341 biolink:NamedThing Abnormality of the epiphyses of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the little toe bone|Abnormality of the end part of the pinkie toe bone|Abnormality of the end part of the pinky toe bone UMLS:C4023893 doelkens 2009-07-16T11:41:49Z human_phenotype owl:Class UBERON:0003466 biolink:NamedThing forelimb zeugopod bone A bone that is part of a lower arm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl antebrachial region bone organ|arm zeugopod bone|antebrachial region bone|zeugopod bone, forelimb|zeugopod bone, upper|lower arm bone|wing zeugopod bone|arm zeugopod bone organ MA:0000598|EMAPA:35347 uberon owl:Class HP:0002639 biolink:NamedThing Budd-Chiari syndrome Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0856761|MSH:D006502|SNOMEDCT_US:82385007 human_phenotype owl:Class HP:0025469 biolink:NamedThing Anagen effluvium An abnormal loss of anagen (growth phase) hairs. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 11:20:58+00:00 Anagen effluvium is the result of a disturbance of proliferative activity of hair follicle matrix cells, which leads to the narrowing and subsequent breakage of the proximal portion of hair shafts. This type of hair loss can be caused by systemic chemotherapy or by radiotherapy to the head. HPO:probinson owl:Class HP:0011362 biolink:NamedThing Abnormal hair quantity An abnormal amount of hair. tmpxe7fu0cj_hp_relaxed.owl Abnormality of hair density|Abnormal hair quantity UMLS:C4023401|UMLS:C4023397 peter 2012-03-01T08:46:57Z HP:0002115|HP:0011357 owl:Class HP:0011237 biolink:NamedThing Broad inferior crus of antihelix Increased width of the inferred cross-section of the inferior crus. tmpxe7fu0cj_hp_relaxed.owl Antihelix, inferior crus, broad UMLS:C4021196 This finding is highly variable. The inferior crus is usually sharply folded giving a narrow profile. peter 2011-12-18T10:46:34Z human_phenotype owl:Class HP:0011243 biolink:NamedThing Abnormality of inferior crus of antihelix An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. tmpxe7fu0cj_hp_relaxed.owl Abnormality of anterior crus of antihelix UMLS:C4021191 The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix. peter 2011-12-18T11:41:44Z human_phenotype owl:Class UBERON:0003462 biolink:NamedThing facial bone A bone that is part of a facial skeleton [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bone of facial skeleton|bone of viscerocranium|facial bone|viscerocranium bone|facial skeleton bone SCTID:181799005|UMLS:C0015455|EMAPA:19019|EMAPA:35924|NCIT:C63706|MA:0003159|MA:0001482 test whether 'facial bone' is an exact synonym uberon owl:Class GO:0072593 biolink:NamedThing reactive oxygen species metabolic process The chemical reactions and pathways involving a reactive oxygen species, any molecules or ions formed by the incomplete one-electron reduction of oxygen. They contribute to the microbicidal activity of phagocytes, regulation of signal transduction and gene expression, and the oxidative damage to biopolymers. tmpxe7fu0cj_hp_relaxed.owl reactive oxygen species metabolism|ROS metabolic process mah 2011-02-11T10:50:06Z biological_process owl:Class GO:0044237 biolink:NamedThing cellular metabolic process The chemical reactions and pathways by which individual cells transform chemical substances. tmpxe7fu0cj_hp_relaxed.owl intermediary metabolism|cellular metabolism biological_process owl:Class GO:0031327 biolink:NamedThing negative regulation of cellular biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl negative regulation of cellular synthesis|down-regulation of cellular biosynthetic process|negative regulation of cellular formation|negative regulation of cellular anabolism|down regulation of cellular biosynthetic process|downregulation of cellular biosynthetic process|negative regulation of cellular biosynthesis|inhibition of cellular biosynthetic process biological_process owl:Class GO:0031324 biolink:NamedThing negative regulation of cellular metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. tmpxe7fu0cj_hp_relaxed.owl down regulation of cellular metabolic process|inhibition of cellular metabolic process|negative regulation of cellular metabolism|down-regulation of cellular metabolic process|downregulation of cellular metabolic process biological_process owl:Class HP:0010513 biolink:NamedThing Pituitary calcification Deposition of calcium salts in the pituitary gland. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023797 peter 2009-09-19T04:09:21Z human_phenotype owl:Class HP:0002514 biolink:NamedThing Cerebral calcification The presence of calcium deposition within brain structures. tmpxe7fu0cj_hp_relaxed.owl Brain calcification|Intracerebral calcifications|Intracranial calcification|Abnormal deposits of calcium in the brain|Intracranial calcifications SNOMEDCT_US:17944005|UMLS:C0270685 This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. HP:0005806|HP:0006848|HP:0002502 human_phenotype owl:Class GO:1902252 biolink:NamedThing positive regulation of erythrocyte apoptotic process Any process that activates or increases the frequency, rate or extent of erythrocyte apoptotic process. tmpxe7fu0cj_hp_relaxed.owl activation of red blood cell apoptotic process|up-regulation of erythrocyte apoptosis|up-regulation of erythrocyte apoptotic process|up-regulation of red blood cell apoptosis|up regulation of RBC apoptotic process|upregulation of erythrocyte apoptosis|upregulation of RBC apoptosis|up-regulation of red blood cell apoptotic process|up regulation of erythrocyte apoptotic process|activation of red blood cell apoptosis|up regulation of red blood cell apoptosis|upregulation of red blood cell apoptosis|upregulation of erythrocyte apoptotic process|up regulation of erythrocyte apoptosis|upregulation of RBC apoptotic process|positive regulation of erythrocyte apoptosis|up regulation of red blood cell apoptotic process|positive regulation of RBC apoptotic process|up-regulation of RBC apoptotic process|up-regulation of RBC apoptosis|positive regulation of red blood cell apoptosis|upregulation of red blood cell apoptotic process|activation of erythrocyte apoptosis|activation of RBC apoptosis|activation of erythrocyte apoptotic process|positive regulation of RBC apoptosis|up regulation of RBC apoptosis|activation of RBC apoptotic process|positive regulation of red blood cell apoptotic process rl 2013-06-20T19:31:04Z biological_process owl:Class GO:0033034 biolink:NamedThing positive regulation of myeloid cell apoptotic process Any process that activates or increases the frequency, rate, or extent of myeloid cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl upregulation of myeloid cell apoptosis|activation of myeloid cell apoptosis|up-regulation of myeloid cell apoptosis|up regulation of myeloid cell apoptosis|positive regulation of myeloid cell apoptosis|stimulation of myeloid cell apoptosis biological_process owl:Class HP:0100673 biolink:NamedThing Vaginal hydrocele A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:55434001|UMLS:C1720771|SNOMEDCT_US:26614003|MSH:D006848|SNOMEDCT_US:386152007 "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. doelkens 2010-12-30T01:36:39Z owl:Class HP:0000034 biolink:NamedThing Hydrocele testis Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. tmpxe7fu0cj_hp_relaxed.owl Hydrocele|Testicular hydrocele SNOMEDCT_US:386152007|MSH:D006848|SNOMEDCT_US:55434001|UMLS:C1720771|SNOMEDCT_US:26614003 owl:Class CL:0000897 biolink:NamedThing CD4-positive, alpha-beta memory T cell A CD4-positive, alpha-beta T cell that has differentiated into a memory T cell. tmpxe7fu0cj_hp_relaxed.owl CD4-positive, alpha-beta memory T-cell|CD4-positive, alpha-beta memory T lymphocyte|CD4-positive, alpha-beta memory T-lymphocyte|T4.Mem.Sp https://orcid.org/0000-0001-9990-8331 cell owl:Class CL:0000813 biolink:NamedThing memory T cell A long-lived, antigen-experienced T cell that has acquired a memory phenotype including distinct surface markers and the ability to differentiate into an effector T cell upon antigen reexposure. tmpxe7fu0cj_hp_relaxed.owl memory T-lymphocyte|memory T lymphocyte|memory T-cell BTO:0003435 cell owl:Class UBERON:0006567 biolink:NamedThing right ventricle myocardium A myocardium that is part of a right ventricle of a heart. tmpxe7fu0cj_hp_relaxed.owl myocardium of right ventricle|right ventricular myocardium EMAPA:17342|MA:0002984|SCTID:362020004|FMA:9535 uberon owl:Class Myocardium of ventricle which is continuous with the tunica media of the pulmonary trunk. UBERON:0001083 biolink:NamedThing myocardium of ventricle Muscular layer of the cardiac ventricle composed of a compact myocardial layer surrounding the trabecular layer. tmpxe7fu0cj_hp_relaxed.owl ventricle cardiac muscle|ventricle myocardium|ventricular myocardium MA:0000082|ZFA:0005061|EMAPA:32748|EFO:0003088|FMA:12151|SCTID:192084000|TAO:0005061|VHOG:0000604 uberon owl:Class Muscular layer of the cardiac ventricle composed of a compact myocardial layer surrounding the trabecular layer Hu et al. 2001.[TAO] As noted, the hearts of birds and mammals have four chambers that arises from the two chambers (atrium and ventricle) of the fish heart.[uncertain][VHOG] UBERON:0004410 biolink:NamedThing distal epiphysis of fibula A distal epiphysis that is part of a fibula [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lower end of fibula|distal end of fibula FMA:33732 uberon owl:Class UBERON:0005908 biolink:NamedThing conjunctival sac A serous sac which is the aggregate of the conjunctiva plus the conjunctival space. tmpxe7fu0cj_hp_relaxed.owl conjunctiva serous sac|subbrillar sac EMAPA:18233|FMA:20291 uberon owl:Class HP:0010757 biolink:NamedThing Aplasia of the premaxilla Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla. tmpxe7fu0cj_hp_relaxed.owl Absence of the primary palate bone|Aplasia of the primary palate bone|Failure of development of premaxilla|Missing primary palate bone|Absence of the intermaxillary bone|Aplasia of the intermaxillary bone|Missing premaxilla|Failure of development of the primary palate bone|Absence of the premaxilla UMLS:C4023712 sdoelken 2010-04-23T10:42:17Z human_phenotype owl:Class HP:0040008 biolink:NamedThing Aplasia of facial bones tmpxe7fu0cj_hp_relaxed.owl Failure of development of facial skeleton|Absence of facial bones|Missing facial bones|Agenesis of facial bones|Aplasia of facial skeleton|Failure of development of facial bones UMLS:C4280301|UMLS:C4022497|UMLS:C1385254|UMLS:C4280300 HPO:skoehler owl:Class HP:0001705 biolink:NamedThing Right ventricular outlet tract obstruction An obstruction to the forward flow of blood in the outflow tract of the right ventricle. tmpxe7fu0cj_hp_relaxed.owl Right ventricular outlet obstruction MSH:D014694|UMLS:C0035619 human_phenotype owl:Class HP:0033118 biolink:NamedThing Abnormal right ventricular function Anomalous physiology (function) of the right ventricle. tmpxe7fu0cj_hp_relaxed.owl 2020-09-03 12:06:13+00:00 peter owl:Class GO:0007040 biolink:NamedThing lysosome organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases. tmpxe7fu0cj_hp_relaxed.owl lysosome organization and biogenesis|lysosome organisation biological_process owl:Class GO:0010960 biolink:NamedThing magnesium ion homeostasis Any process involved in the maintenance of an internal steady state of magnesium ions within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl tb 2009-05-06T11:47:17Z biological_process owl:Class GO:0055065 biolink:NamedThing metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0015481 biolink:NamedThing left hepatic artery A hepatic artery that is part of a left lobe of liver. tmpxe7fu0cj_hp_relaxed.owl left part of hepatic artery proper|left branch of hepatic artery|ramus sinister (arteria hepatica propria) FMA:14779|EMAPA:37096|MA:0003096 uberon owl:Class UBERON:0001193 biolink:NamedThing hepatic artery An artery that supplies the liver. tmpxe7fu0cj_hp_relaxed.owl arteria hepatica propria|arteria hepatica FMA:14769|TAO:0005161|ZFA:0005161|OpenCyc:Mx4rvzKtFpwpEbGdrcN5Y29ycA|galen:HepaticArtery|NCIT:C32729|GAID:496|EMAPA:17859|BTO:0004307|MESH:D006499|UMLS:C0019145|MA:0001963 currently defined in a generic fashion. http://upload.wikimedia.org/wikipedia/commons/4/4c/Common_and_proper_hepatic_artery.png uberon owl:Class Artery that supplies blood to the liver.[TAO] HP:0000378 biolink:NamedThing Cupped ear Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). tmpxe7fu0cj_hp_relaxed.owl Capuchin ears|Cup-shaped ears|Cupped ear|Simple, cup-shaped ears|Cupped ears UMLS:C4020892|UMLS:C1845447 HP:0008600|HP:0008531 human_phenotype owl:Class HP:0000377 biolink:NamedThing Abnormality of the pinna An abnormality of the pinna, which is also referred to as the auricle or external ear. tmpxe7fu0cj_hp_relaxed.owl Dysplastic ears|Deformed ears|Malformation of auricle|Deformed auricles|Malformed ears|Minor malformation of the auricles|Malformed external ears|Malformed auricles|Poorly defined conchae|Abnormally shaped ears|Auricular malformation|Abnormal form of ears UMLS:C0857379|SNOMEDCT_US:253255002|UMLS:C0431483 The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance. HP:0008582|HP:0008562|HP:0000390|HP:0008566|HP:0000398|HP:0008567|HP:0004465|HP:0008580|HP:0008602 human_phenotype owl:Class HP:0040181 biolink:NamedThing Chapped lip Cracking, fissuring, and peeling of the skin of the lips. tmpxe7fu0cj_hp_relaxed.owl Common cheilitis|Perioral dermatitis|Dry lips|Chapped lips|Chapped lip|Cheilitis simplex SNOMEDCT_US:248182008|SNOMEDCT_US:402294001|SNOMEDCT_US:16459000|UMLS:C0263449|SNOMEDCT_US:238751002|UMLS:C0424489|MSH:D019557 owl:Class HP:0000159 biolink:NamedThing Abnormal lip morphology An abnormality of the lip. tmpxe7fu0cj_hp_relaxed.owl Anomaly of lip|Lip abnormality|Abnormality of the lip|Malformation of lip|Deformity of lip|Abnormal lip UMLS:C2183966 human_phenotype owl:Class HP:0100040 biolink:NamedThing Broad 2nd toe A broad appearance of the second toe. tmpxe7fu0cj_hp_relaxed.owl Wide 2nd toe UMLS:C4022381 Note that an apparent broad appearance might be due to a hidden duplication. doelkens 2010-06-24T09:52:57Z human_phenotype owl:Class HP:0100359 biolink:NamedThing Contracture of the metatarsophalangeal joint of the 5th toe The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022126 human_phenotype owl:Class HP:0010345 biolink:NamedThing Flexion contracture of the 5th toe One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl Joint contractures of the 5th toe UMLS:C4021290 doelkens 2009-07-16T11:41:49Z human_phenotype owl:Class UBERON:0016554 biolink:NamedThing white matter of midbrain A white matter that is part of the midbrain. tmpxe7fu0cj_hp_relaxed.owl mesencephalic white matter HBA:265505382|FMA:83936|DHBA:10650 uberon owl:Class UBERON:0003544 biolink:NamedThing brain white matter The regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. tmpxe7fu0cj_hp_relaxed.owl white matter of neuraxis of brain|brain white matter of neuraxis|white substance of brain|brain white substance|white matter of brain MA:0000820|UMLS:C1706995|NCIT:C49334|HBA:9218|EMAPA:35187 uberon owl:Class UBERON:0004226 biolink:NamedThing gastrointestinal system smooth muscle A portion of smooth muscle tissue that is part of a digestive system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl smooth muscle tissue of gastrointestinal system MA:0001523|EMAPA:35117 uberon owl:Class HP:0010353 biolink:NamedThing Second toe symphalangism Fusion of the interphalangeal joints of the 2nd toe. tmpxe7fu0cj_hp_relaxed.owl Fused bones of 2nd toe|2nd toe symphalangism|Symphalangism affecting the phalanges of the 2nd toe UMLS:C4023887 doelkens 2009-07-16T11:45:34Z owl:Class UBERON:0000108 biolink:NamedThing blastula stage An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Blastula|ZFS:0000045|HsapDv:0000006|OGES:000016|MmusDv:0000007|XAO:1000003|BilaDO:0000007|EFO:0001282|WBls:0000005|BILS:0000108|OGES:000003|OpenCyc:Mx4rEetFnKP2EdqAAAACs4vPlg|OGES:000021 http://upload.wikimedia.org/wikipedia/commons/c/c6/Blastulation.png consider adding a preceding stage 'morula stage' as part of cleavage uberon owl:Class UBERON:0001869 biolink:NamedThing cerebral hemisphere One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA]. tmpxe7fu0cj_hp_relaxed.owl nucleus medialis amygdalae|medial amygdalar nucleus|hemispherium cerebri|nucleus amygdaloideus medialis|hemisphere|cerebrum|hemispheric regions EMAPA:16653|AAO:0010480|MBA:403|EFO:0002521|galen:CerebralHemisphere|BTO:0000231|SCTID:278251007|BIRNLEX:1042|UMLS:C0228174|UMLS:C0242202|FMA:61817|NCIT:C12351|DMBA:15739|OpenCyc:Mx4rvigx5ZwpEbGdrcN5Y29ycA|CALOHA:TS-2007|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=241|MA:0000133|BAMS:HEM|VHOG:0001639|Wikipedia:Cerebral_hemisphere http://upload.wikimedia.org/wikipedia/commons/9/92/Hemispheres.png uberon owl:Class Part of the telencephalon consisting of either of the two smooth, elongated halves of the cerebrum.[AAO] The presence of paired evaginated hemispheres and olfactory bulbs in both agnathan and gnathostome radiations suggests that such hemispheres were also present in the common ancestor.[well established][VHOG] GO:0014858 biolink:NamedThing positive regulation of skeletal muscle cell proliferation Any process that activates or increases the frequency, rate or extent of skeletal muscle cell proliferation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:61115 biolink:NamedThing EC 3.5.1.98 (histone deacetylase) inhibitor An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the function of histone deacetylase (EC 3.5.1.98). tmpxe7fu0cj_hp_relaxed.owl EC 3.5.1.98 inhibitors|HDACis|histone deacetylase (EC 3.5.1.98) inhibitors|HDAC inhibitors|HDIs|histone deacetylase (EC 3.5.1.98) inhibitor|HDACi|histone deacetylase inhibitor|HDAC inhibitor|histone amidohydrolase inhibitors|EC 3.5.1.98 inhibitor|HDI|EC 3.5.1.98 (histone deacetylase) inhibitors|histone deacetylase inhibitors|histone amidohydrolase inhibitor Wikipedia:Histone_deacetylase_inhibitor chebi_ontology owl:Class CHEBI:76807 biolink:NamedThing EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor An EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor that interferes with the action of any non-peptide linear amide C-N hydrolase (EC 3.5.1.*). tmpxe7fu0cj_hp_relaxed.owl non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitor|non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitors|EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitors|EC 3.5.1.* inhibitors|EC 3.5.1.* inhibitor chebi_ontology owl:Class HP:0012196 biolink:NamedThing Cheyne-Stokes respiration An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes. tmpxe7fu0cj_hp_relaxed.owl Cheyne-Stokes breathing|Periodic respiration UMLS:C1313952|SNOMEDCT_US:271824009|MSH:D002639|UMLS:C0008039|SNOMEDCT_US:309155007 peter 2013-03-11T07:00:56Z owl:Class GO:0061971 biolink:NamedThing replacement bone morphogenesis The process in which bones are generated and organized as a result of the conversion of another structural tissue into bone. tmpxe7fu0cj_hp_relaxed.owl dph 2018-02-12T18:10:59Z biological_process owl:Class GO:0072505 biolink:NamedThing divalent inorganic anion homeostasis Any process involved in the maintenance of an internal steady state of divalent inorganic anions within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl Note that this term was split from 'di-, tri-valent inorganic anion homeostasis ; GO:0055061' (sibling term 'trivalent inorganic anion homeostasis' ; GO:0072506'). mah 2010-12-16T01:39:00Z biological_process owl:Class GO:1902491 biolink:NamedThing negative regulation of sperm capacitation tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:1903430 biolink:NamedThing negative regulation of cell maturation tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0001309 biolink:NamedThing internal iliac artery The internal iliac artery (formerly known as the hypogastric artery) is the main artery of the pelvis. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl hypogastric artery|arteria iliaca interna FMA:18808|EMAPA:17860|MA:0001974|galen:InternalIliacArtery|UMLS:C0226364|NCIT:C32845|BTO:0004667 http://upload.wikimedia.org/wikipedia/commons/d/d3/Iliac_artery_bifurcation.PNG uberon owl:Class UBERON:0005609 biolink:NamedThing iliac artery Any of the arteries that arise from a bifurcation of the aorta supplying the pelvic or abdomen. Examples: Common iliac artery, External iliac artery, Internal iliac artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0020887|MA:0001971|EMAPA:17309|galen:IliacArtery|EHDAA:2551|BTO:0004665|NCIT:C12733|XAO:0000361|MESH:D007083|RETIRED_EHDAA2:0000807 this is an extremely loose and flexible grouping class that is the superclass of the mammalian common iliac and its main brahces, together with analagous structures in other tetrapods uberon owl:Class we place the XAO structure here for now. In terms of analagy, it is more closely related to common iliac, but the relationships currently attached to this class are mammal specific HP:3000057 biolink:NamedThing Abnormality of inferior oblique extraocular muscle An abnormality of an inferior oblique extraocular muscle. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the inferior oblique muscle UMLS:C4073265 vasilevs 2015-08-07T03:18:39Z owl:Class HP:0008049 biolink:NamedThing Abnormality of the extraocular muscles An abnormality of an extraocular muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024751 There are six extraocular muscles that control the movements of the eye. peter 2008-04-02T12:14:00Z owl:Class HP:0500144 biolink:NamedThing Hypoisoleucinemia A decreased amount of isoleucine in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased blood isoleucine concentration|Low blood isoleucine levels 2018-10-04 13:22:24+00:00 owl:Class HP:0010912 biolink:NamedThing Abnormal circulating isoleucine concentration Any deviation from the normal concentration of isoleucine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023658 peter 2010-12-08T08:47:47Z human_phenotype owl:Class HP:0009202 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 5th finger Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of the innermost bone of the pinkie finger|Fragmentation of end part of the innermost bone of the little finger|Fragmentation of end part of the innermost bone of the pinky finger UMLS:C4024538 doelkens 2009-01-05T05:13:41Z human_phenotype owl:Class HP:0010272 biolink:NamedThing Fragmentation of the epiphyses of the proximal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the innermost hand bones UMLS:C4023929 doelkens 2009-07-06T04:25:12Z human_phenotype owl:Class GO:0090291 biolink:NamedThing negative regulation of osteoclast proliferation Any process that decreases the rate, frequency, or extent of the multiplication or reproduction of osteoclasts, resulting in the expansion of an osteoclast cell population. tmpxe7fu0cj_hp_relaxed.owl tb 2010-02-18T03:11:03Z biological_process owl:Class HP:0010480 biolink:NamedThing Urethral fistula The presence of an abnormal connection between the urethra and another organ or the skin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0041970|SNOMEDCT_US:14981000 peter 2009-09-15T10:37:37Z human_phenotype owl:Class HP:0031649 biolink:NamedThing Aortic rupture Tearing of the aortic wall generally associated with profuse internal bleeding. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 15:01:47+00:00 peter owl:Class HP:0012517 biolink:NamedThing Reduced catalase level An abnormally decreased amount of catalase level. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022869 Catalase catalyzes the decomposition of hydrogen peroxide to water and oxygen. peter 2013-12-09T06:49:18Z human_phenotype owl:Class UBERON:0015112 biolink:NamedThing distal tarsal bone 4 cartilage A distal tarsal bone 4 endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0012085 biolink:NamedThing Pyuria The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase. tmpxe7fu0cj_hp_relaxed.owl High urine neutrophil count|Leukocyturia UMLS:C0034359|SNOMEDCT_US:275765006|SNOMEDCT_US:4800001|MSH:D011776 peter 2012-08-20T09:10:26Z human_phenotype owl:Class HP:0012614 biolink:NamedThing Abnormal urine cytology An anomalous finding in the examination of the urine for cells. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:310439007|UMLS:C0587955 peter 2014-01-17T12:01:16Z human_phenotype owl:Class NBO:0000473 biolink:NamedThing rhythmic behavior phenotype tmpxe7fu0cj_hp_relaxed.owl 2011-04-08T02:18:40Z George Gkoutos behavior_ontology owl:Class NBO:0000243 biolink:NamedThing behavioral phenotype "An observable characteristic of the behavior of an organism." [NBO:RH] HP:0000708 tmpxe7fu0cj_hp_relaxed.owl 2011-04-04T08:51:24Z George Gkoutos behavior_ontology owl:Class HP:0001769 biolink:NamedThing Broad foot A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. tmpxe7fu0cj_hp_relaxed.owl Wide foot|Broad feet|Broad foot UMLS:C1866241 human_phenotype owl:Class HP:0005613 biolink:NamedThing Aplasia/hypoplasia of the femur Absence or underdevelopment of the femur. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic to absent femora|Hypoplastic/aplastic femora|Absent/small thighbone|Absent/underdeveloped thighbone UMLS:C1851310 HP:0006425|HP:0006396 human_phenotype owl:Class HP:0006493 biolink:NamedThing Aplasia/hypoplasia involving bones of the lower limbs Absence (due to failure to form) or underdevelopment of the bones of the lower limbs. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped lower limb bones|Absent/small lower limb bones UMLS:C4025037 peter 2008-03-28T06:04:00Z human_phenotype owl:Class HP:0012520 biolink:NamedThing Dilation of Virchow-Robin spaces Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. tmpxe7fu0cj_hp_relaxed.owl Dilated Virchow-Robin spaces|Dilated cerebral perivascular spaces|Perivascular spaces UMLS:C4020719|UMLS:C1853618 Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through grey or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences. peter 2013-12-09T07:17:47Z owl:Class HP:0100659 biolink:NamedThing Abnormal cerebral vascular morphology An anomaly of the cerebral blood vessels. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the cerebral blood vessels|Abnormality of the cerebral vasculature UMLS:C4022001 doelkens 2010-12-30T11:39:15Z owl:Class GO:0046903 biolink:NamedThing secretion The controlled release of a substance by a cell or a tissue. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0032668 biolink:NamedThing Myoclonic status epilepticus without coma A type of myoclonic status epilepticus in the absence of coma. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032667 biolink:NamedThing Myoclonic status epilepticus A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography. tmpxe7fu0cj_hp_relaxed.owl The myoclonic seizures are usually generalized. The duration or frequency of myoclonic jerks required to qualify as myoclonic status is not defined, but they should occur frequently and long enough to significantly impair functioning. A reasonable general definition might be that myoclonus must occur either (1) at least once every 10 seconds for longer than 10 minutes or (2) at least once a minute for longer than 30 minutes. peter owl:Class GO:0030667 biolink:NamedThing secretory granule membrane The lipid bilayer surrounding a secretory granule. tmpxe7fu0cj_hp_relaxed.owl secretory vesicle membrane cellular_component owl:Class GO:0030659 biolink:NamedThing cytoplasmic vesicle membrane The lipid bilayer surrounding a cytoplasmic vesicle. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class UBERON:0007223 biolink:NamedThing osseus cochlea The osseous cochlea is the bony foundation that forms the small shell arrangement for the cochlear nerve. tmpxe7fu0cj_hp_relaxed.owl MA:0000239|EMAPA:35620 TODO - check this. in MA, cochlea is not part of the bony labyrinth uberon owl:Class HP:0012676 biolink:NamedThing Copper accumulation in brain An anomalous build up of copper (Cu) in the brain. tmpxe7fu0cj_hp_relaxed.owl Copper accumulation in brain|Brain copper accumulation UMLS:C4022787 2014-03-13T07:28:03Z human_phenotype owl:Class HP:0032169 biolink:NamedThing Severe infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. tmpxe7fu0cj_hp_relaxed.owl Unusual course of infection 2018-12-16 15:11:20+00:00 peter owl:Class CHEBI:16042 biolink:NamedThing halide anion A monoatomic monoanion resulting from the addition of an electron to any halogen atom. tmpxe7fu0cj_hp_relaxed.owl a halide anion|halogen anion|HX|Halide|halide anions|halide ions|halides|halide(1-) -1 X 0.0 0.0 [*-] KEGG:C00462 CHEBI:14384|CHEBI:5605 chebi_ontology owl:Class CHEBI:33429 biolink:NamedThing monoatomic monoanion tmpxe7fu0cj_hp_relaxed.owl monoatomic monoanions -1 0.00000 [*-] chebi_ontology owl:Class HP:0033658 biolink:NamedThing Rounded atelectasis Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung. tmpxe7fu0cj_hp_relaxed.owl Folded lung syndrome|Blesovsky syndrome|Helical atelectasis|Comet tail sign|Pleuroma|Pleural pseudotumor 2021-02-24 13:51:58+00:00 See Figure 65 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0100750 biolink:NamedThing Atelectasis Collapse of part of a lung associated with absence of inflation (air) of that part. tmpxe7fu0cj_hp_relaxed.owl Partial or complete collapse of part or entire lung|Pulmonary atelectasis SNOMEDCT_US:46621007|MSH:D001261|UMLS:C0004144 doelkens 2011-06-06T06:38:53Z owl:Class HP:0008245 biolink:NamedThing Pituitary hypothyroidism A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. tmpxe7fu0cj_hp_relaxed.owl TSH deficient hypothyroidism|Secondary hypothyroidism|Thyroid stimulating hormone deficiency|Thyrotropin deficiency|Low thyroid gland function due to abnormal pituitary gland UMLS:C3665349|SNOMEDCT_US:82598004 HP:0008248 human_phenotype owl:Class HP:0012656 biolink:NamedThing Reduced CSF dopamine level Decreased concentration of dopamine in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022800 peter 2014-02-15T10:37:27Z human_phenotype owl:Class HP:0012654 biolink:NamedThing Abnormal CSF dopamine level Abnormal concentration of dopamine in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022802 peter 2014-02-15T10:35:24Z human_phenotype owl:Class PR:Q62351 biolink:NamedThing transferrin receptor protein 1 (mouse) A transferrin receptor protein 1 that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl CD71 (mouse)|TfR (mouse)|TfR1 (mouse)|mTFRC|Trfr|Tfrc|TR (mouse) UniProtKB:Q62351 Category=organism-gene. protein owl:Class CHEBI:22301 biolink:NamedThing aldonic acid Any carbohydrate acid formed by oxidising the aldehyde functional group of an aldose to a carboxylic acid functional group. Aldonic acids have the general formula HOCH2[CH(OH)]nC(=O)OH. tmpxe7fu0cj_hp_relaxed.owl aldonic acids|aldonic acid chebi_ontology owl:Class CHEBI:33720 biolink:NamedThing carbohydrate acid tmpxe7fu0cj_hp_relaxed.owl carbohydrate acid|carbohydrate acids chebi_ontology owl:Class CHEBI:32797 biolink:NamedThing (S)-2-hydroxyglutaric acid tmpxe7fu0cj_hp_relaxed.owl (2S)-2-hydroxypentanedioic acid|(S)-2-Hydroxyglutarate 0 C5H8O5 InChI=1S/C5H8O5/c6-3(5(9)10)1-2-4(7)8/h3,6H,1-2H2,(H,7,8)(H,9,10)/t3-/m0/s1 HWXBTNAVRSUOJR-VKHMYHEASA-N 148.11402 148.03717 O[C@@H](CCC(O)=O)C(O)=O MetaCyc:CPD-381|KEGG:C03196|Reaxys:1723807|Gmelin:1218919|CAS:13095-48-2|Beilstein:1723807 CHEBI:380|CHEBI:18739 chebi_ontology owl:Class CL:0000909 biolink:NamedThing CD8-positive, alpha-beta memory T cell A CD8-positive, alpha-beta T cell that has differentiated into a memory T cell. tmpxe7fu0cj_hp_relaxed.owl CD8-positive, alpha-beta memory T-cell|T.8Mem.Sp|CD8-positive, alpha-beta memory T lymphocyte|CD8-positive, alpha-beta memory T-lymphocyte https://orcid.org/0000-0001-9990-8331 cell owl:Class CL:0000625 biolink:NamedThing CD8-positive, alpha-beta T cell A T cell expressing an alpha-beta T cell receptor and the CD8 coreceptor. tmpxe7fu0cj_hp_relaxed.owl CD8-positive, alpha-beta T lymphocyte|CD8-positive, alpha-beta T-lymphocyte|CD8-positive, alpha-beta T-cell cell owl:Class GO:0006643 biolink:NamedThing membrane lipid metabolic process The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane. tmpxe7fu0cj_hp_relaxed.owl membrane lipid metabolism biological_process owl:Class GO:0044255 biolink:NamedThing cellular lipid metabolic process The chemical reactions and pathways involving lipids, as carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl cellular lipid metabolism biological_process owl:Class HP:0009724 biolink:NamedThing Subungual fibromas The presence of fibromata beneath finger or toenails. tmpxe7fu0cj_hp_relaxed.owl Subungual fibroma SNOMEDCT_US:39295002|UMLS:C0266003 peter 2009-01-31T09:49:51Z human_phenotype owl:Class UBERON:0003124 biolink:NamedThing chorion membrane The outermost extraembryonic membrane. tmpxe7fu0cj_hp_relaxed.owl chorion|fetal chorion|uterine chorion|embryonic chorion|chorionic sac|chorion frondosum|chorion (vertebrates) EFO:0002780|EHDAA2:0000245|EHDAA:150|VHOG:0000200|BTO:0000252|UMLS:C1516505|NCIT:C34122|UMLS:C0008503|EV:0100121|MESH:A16.254.403.473|FMA:80224|CALOHA:TS-0144|GAID:1299|EMAPA:16112|NCIT:C34124 http://upload.wikimedia.org/wikipedia/commons/5/51/Gray24.png uberon owl:Class The outer membrane of the two membranes enclosing the embryo in reptiles, birds, and mammals. In placental mammals it contributes to the development of the placenta[BTO:0000252].|The outer membrane enclosing the embryo in reptiles, birds, and mammals. [TFD][VHOG] Structures homologous to the four extraembryonic membranes of reptiles and birds appear in mammals: amnion, chorion, yolk sac, and allantois.[well established][VHOG] chorionic The chorion of placentals is bilaminar as in reptiles and birds, but forms from the trophoblast and includes the ajdacent mesodermal layer [ISBN:0073040584] Extra-embryonic ectoderm UBERON:0000990 biolink:NamedThing reproductive system Anatomical system that has as its parts the organs concerned with reproduction. tmpxe7fu0cj_hp_relaxed.owl genital system|systemata genitalia|animal reproductive system|genital tract|reproductive tract|reproductive tissue|Geschlechtsorgan|organa genitalia|genitalia EHDAA:5923|SCTID:278875001|TAO:0000632|MIAA:0000305|XAO:0000142|HAO:0000895|HAO:0000374|UMLS:C1261210|ZFA:0000632|EMAPA:17381|EFO:0000809|OpenCyc:Mx4rvVja4ZwpEbGdrcN5Y29ycA|EV:0100100|WBbt:0005747|MA:0000326|EHDAA2:0001603|FBbt:00004857|GAID:363|FMA:7160|BTO:0000081|BILA:0000103|CALOHA:TS-1318|VHOG:0000182|Wikipedia:Reproductive_system|NCIT:C12841|AAO:0010258 http://upload.wikimedia.org/wikipedia/commons/5/52/Penis.svg consider splitting genitalia from reproductive system uberon owl:Class Anatomical system which consists of organs and tissues associated with sexual reproduction of the organism.[AAO] Arguably, one of the most important aspects of urbilaterian organogenesis would have been gonadogenesis, since Urbilateria must have successfully generated gametes and developed a strategy for extrusion and fertilization, in order to be the ancestor of all living Bilateria.[well established][VHOG] UBERON:0002323 biolink:NamedThing coelemic cavity lumen The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities. tmpxe7fu0cj_hp_relaxed.owl main body cavity|ventral body cavity|coelomic cavity lumen|body cavity|coelome|coelomic cavity|hemocoel|space of body compartment|celom|coelom FBbt:00005060|RETIRED_EHDAA2:0003186|galen:BodyCavity|FMA:85006|TAO:0001438|SCTID:361348008|EHDAA2:0000267|NCIT:C25444|UMLS:C0333343|BTO:0001707|ZFA:0001438|AEO:0000186 check the FMA placement here; ncit placement of body cavity here probably not correct UBERON:0000169 uberon owl:Class Anatomical space, part of the trunk that contains the pericardial and pleuroperitoneal cavities[ZFA].|The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities[BTO]. In mammals it forms the peritoneal, pleural, and pericardial cavities GO:0051985 biolink:NamedThing negative regulation of chromosome segregation Any process that stops, prevents, or reduces the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. tmpxe7fu0cj_hp_relaxed.owl down-regulation of chromosome segregation|down regulation of chromosome segregation|downregulation of chromosome segregation|inhibition of chromosome segregation biological_process owl:Class GO:0032944 biolink:NamedThing regulation of mononuclear cell proliferation Any process that modulates the frequency, rate or extent of mononuclear cell proliferation. tmpxe7fu0cj_hp_relaxed.owl regulation of peripheral blood mononuclear cell proliferation|regulation of PBMC proliferation biological_process owl:Class GO:0042102 biolink:NamedThing positive regulation of T cell proliferation Any process that activates or increases the rate or extent of T cell proliferation. tmpxe7fu0cj_hp_relaxed.owl up regulation of T cell proliferation|activation of T cell proliferation|positive regulation of T-lymphocyte proliferation|upregulation of T cell proliferation|stimulation of T cell proliferation|up-regulation of T cell proliferation|positive regulation of T lymphocyte proliferation biological_process owl:Class HP:0010092 biolink:NamedThing Triangular shaped proximal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Triangular shaped innermost bone of big toe UMLS:C4024055 doelkens 2009-05-29T12:17:16Z human_phenotype owl:Class HP:0010065 biolink:NamedThing Triangular shaped phalanges of the hallux tmpxe7fu0cj_hp_relaxed.owl Triangular shaped bones of big toe UMLS:C4024077 doelkens 2009-05-29T12:10:46Z owl:Class UBERON:0004475 biolink:NamedThing musculature of hip The collection of muscles that form attachments to the hip skeleton. tmpxe7fu0cj_hp_relaxed.owl hip musculature|muscle group of hip|set of muscles of hip FMA:50227 uberon owl:Class HP:0011471 biolink:NamedThing Gastrostomy tube feeding in infancy Feeding problem necessitating gastrostomy tube feeding. tmpxe7fu0cj_hp_relaxed.owl PEG-fed in infancy UMLS:C4023342|UMLS:C4020748 This is an extremely severe form of feeding problems in infancy. peter 2012-03-25T10:00:00Z human_phenotype owl:Class HP:0033454 biolink:NamedThing Tube feeding Feeding problem necessitating food and nutrient delivery via a tube. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 21:48:41+00:00 peter owl:Class GO:0055118 biolink:NamedThing negative regulation of cardiac muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle contraction. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0045988 biolink:NamedThing negative regulation of striated muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle contraction. tmpxe7fu0cj_hp_relaxed.owl down regulation of striated muscle contraction|inhibition of striated muscle contraction|down-regulation of striated muscle contraction|downregulation of striated muscle contraction biological_process owl:Class HP:0041190 biolink:NamedThing Fractured epiphysis of second metacarpal bone A partial or complete breakage of the epiphysis of second metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl bone epiphysis of second metacarpal bone owl:Class HP:0033494 biolink:NamedThing Glomerular basement membrane amyloid spicule Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 13:18:43+00:00 See Figure 3 of PMID:25852856. peter owl:Class HP:0033282 biolink:NamedThing Abnormal glomerular basement membrane morphology Any abnormal sttructure of the glomerular basement membrane. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 20:24:00+00:00 The (GBM) is an integral component of the glomerular filtration barrier; an important and highly complex capillary wall that is exposed to mechanical forces driven by capillary hydrostatic pressure. This barrier is permeable to water and small molecules, and selectively withholds cells and macromolecules such as albumin in the circulation. peter owl:Class HP:0001637 biolink:NamedThing Abnormal myocardium morphology A structural anomaly of the muscle layer of the heart wall. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the myocardium UMLS:C4025758 owl:Class HP:0001627 biolink:NamedThing Abnormal heart morphology Any structural anomaly of the heart. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the heart|Cardiac abnormality|Congenital heart defect|Cardiac anomaly|Abnormally shaped heart|Heart defect|Abnormality of cardiac morphology|Congenital heart defects|Cardiac anomalies MSH:D006330|UMLS:C0152021|UMLS:C0018798|SNOMEDCT_US:13213009 HP:3000001 owl:Class GO:0048521 biolink:NamedThing negative regulation of behavior Any process that stops, prevents, or reduces the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. tmpxe7fu0cj_hp_relaxed.owl inhibition of behavior|downregulation of behavior|down-regulation of behavior|down regulation of behavior biological_process owl:Class GO:0050795 biolink:NamedThing regulation of behavior Any process that modulates the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. tmpxe7fu0cj_hp_relaxed.owl regulation of behaviour biological_process owl:Class UBERON:0013621 biolink:NamedThing lower secondary molar tooth A secondary molar tooth that is part of a lower jaw region. tmpxe7fu0cj_hp_relaxed.owl mandibular secondary molar tooth|lower permanent molar tooth|lower permanent molar FMA:55721 uberon owl:Class UBERON:0013618 biolink:NamedThing secondary molar tooth tmpxe7fu0cj_hp_relaxed.owl permanent molar tooth|secondary molar tooth FMA:84207 uberon owl:Class UBERON:0011596 biolink:NamedThing future lower lip tmpxe7fu0cj_hp_relaxed.owl lower jaw future lip EHDAA2:0001020 uberon owl:Class UBERON:0003236 biolink:NamedThing epithelium of lower jaw An epithelium that is part of a lower jaw [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lower jaw epithelium|ventral mandibular arch epithelium|epithelial tissue of ventral mandibular arch|ventral mandibular arch epithelial tissue|epithelial tissue of lower jaw|lower jaw epithelial tissue|epithelium of ventral mandibular arch EHDAA:7999|VHOG:0000802|EHDAA2:0001019|EMAPA:35516 uberon owl:Class UBERON:0035550 biolink:NamedThing superficial vein Any of the veins carrying deoxygenated blood from the subcutaneous tissue layers. tmpxe7fu0cj_hp_relaxed.owl superficial veins|superficial vessels|superfical vein SCTID:341382008|Wikipedia:Superficial_vein|FMA:76719|NCIT:C33666|UMLS:C0226513 uberon owl:Class HP:0100749 biolink:NamedThing Chest pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. tmpxe7fu0cj_hp_relaxed.owl Thoracic pain|Chest discomfort|Chest pain MSH:D002637|UMLS:C0008031|SNOMEDCT_US:29857009 doelkens 2011-06-06T06:36:48Z owl:Class HP:0003795 biolink:NamedThing Short middle phalanx of toe Developmental hypoplasia (shortening) of middle phalanx of toe. tmpxe7fu0cj_hp_relaxed.owl Short middle phalanges of toes|Short middle bones (feet) UMLS:C4021723 human_phenotype owl:Class HP:0010183 biolink:NamedThing Abnormality of the middle phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Abnormal middle bones of toe UMLS:C4023981 doelkens 2009-05-29T01:51:38Z human_phenotype owl:Class HP:0041249 biolink:NamedThing Fractured nose A partial or complete breakage of the nose. tmpxe7fu0cj_hp_relaxed.owl bone nose owl:Class CHEBI:38795 biolink:NamedThing pteroic acids tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:26375 biolink:NamedThing pterins tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class GO:1904251 biolink:NamedThing regulation of bile acid metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class CL:1000479 biolink:NamedThing Purkinje myocyte of atrioventricular node A Purkinje myocyte that is part of the atrioventricular node. tmpxe7fu0cj_hp_relaxed.owl FMA:83386 cell owl:Class CL:0002068 biolink:NamedThing Purkinje myocyte Specialized cardiac myocyte that is subendocardially interspersed with the regular cardiac muscle cell. They are uninucleate cylindrical cells, associated end-to-end in long rows, continue from the node to the atrioventricular bundle; relatively short compared to ordinary myocytes but are nearly twice their diameter. tmpxe7fu0cj_hp_relaxed.owl myocytus conducens cardiacus|Purkinje muscle cell|Purkinje cell fiber BTO:0001032|FMA:14146 tmeehan 2010-06-28T08:36:15Z cell owl:Class HP:0003535 biolink:NamedThing 3-Methylglutaconic aciduria An increased amount of 3-methylglutaconic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl 3-Methylglutaconicaciduria UMLS:C3696376|SNOMEDCT_US:237950009|MSH:C579867 3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine. owl:Class HP:0031980 biolink:NamedThing Abnormal urine carboxylic acid level Any deviation from the normal concentration of a carboxylic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-07-08 13:01:16+00:00 Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH). peter owl:Class UBERON:0004224 biolink:NamedThing muscular coat of vas deferens A muscular coat that is part of a vas deferens [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscular coat of ductus deferens|tunica muscularis (ductus deferens)|muscular layer of ductus deferens|muscularis of vas deferens|muscle layer of vas deferens|tunica muscularis ductus deferentis|muscle layer of deferent duct|muscle layer of ductus deferens EMAPA:29270|MA:0001750|FMA:19239 TODO - check MA and FMA classes mean the same thing uberon owl:Class HP:0025045 biolink:NamedThing Abnormal brain lactate level by MRS A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl Abnormal lactate level by magnetic resonance spectroscopy 2016-09-25 16:43:58+00:00 HPO:probinson owl:Class HP:0012705 biolink:NamedThing Abnormal metabolic brain imaging by MRS An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022764 MRS can only detect a few metabolites as least millimolar concentrations are necessary for the metabolites to be detected. The major brain metabolites detected are choline (Cho), creatine (Cr), N-acetyl aspartate (NAA), lactate, myo-inositol, glutamine and glutamate, lipids, and the amino acids leucine and alanine. peter 2014-03-22T08:04:18Z human_phenotype owl:Class HP:0003489 biolink:NamedThing Acute episodes of neuropathic symptoms tmpxe7fu0cj_hp_relaxed.owl UMLS:C1867971 Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia). human_phenotype owl:Class UBERON:0022293 biolink:NamedThing reproductive gland secretion A portion of organism substance that is secreted by a reproductive gland. tmpxe7fu0cj_hp_relaxed.owl reproductive system fluid|genital secretion|reproductive system fluid/secretion|reproductive system secretion|genital fluid uberon owl:Class GO:0035912 biolink:NamedThing dorsal aorta morphogenesis The process in which the anatomical structures of the dorsal aorta are generated and organized. The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. tmpxe7fu0cj_hp_relaxed.owl bf 2011-06-24T11:22:14Z biological_process owl:Class HP:0002313 biolink:NamedThing Spastic paraparesis tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:312444006|MSH:D020336|UMLS:C0037771 HP:0007191 human_phenotype owl:Class HP:0002385 biolink:NamedThing Paraparesis Weakness or partial paralysis in the lower limbs. tmpxe7fu0cj_hp_relaxed.owl Partial paralysis of legs SNOMEDCT_US:1845001|UMLS:C0221166|MSH:D020335 Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity. human_phenotype owl:Class GO:2000284 biolink:NamedThing positive regulation of cellular amino acid biosynthetic process Any process that activates or increases the frequency, rate or extent of cellular amino acid biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of amino acid biosynthetic process|positive regulation of cellular amino acid anabolism|positive regulation of cellular amino acid synthesis|positive regulation of cellular amino acid formation|positive regulation of cellular amino acid biosynthesis vw 2010-12-10T11:54:27Z biological_process owl:Class HP:0002780 biolink:NamedThing Bronchomalacia Weakness or softness of the cartilage in the walls of the bronchial tubes. tmpxe7fu0cj_hp_relaxed.owl MSH:D055091|UMLS:C0264353|SNOMEDCT_US:54203008 owl:Class HP:0100201 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the innermost bone of the 4th toe UMLS:C4022220 doelkens 2010-06-24T04:54:59Z human_phenotype owl:Class HP:0100076 biolink:NamedThing Triangular epiphyses of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the 4th toe bone UMLS:C4022345 doelkens 2010-06-24T09:59:30Z human_phenotype owl:Class GO:0006826 biolink:NamedThing iron ion transport The directed movement of iron (Fe) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl iron ion import|ferric iron uptake|ferric iron import|ferrous iron transport|ferric ion transport|ferric ion import|ferric iron transport|iron transport|ferrous ion transport pr 2012-04-18T03:33:45Z GO:0015681|GO:0097286|GO:0015682|GO:0015684|GO:0033216 biological_process owl:Class UBERON:0004180 biolink:NamedThing mammary gland fat The mammary fat is an adipose structure in the gland that is invaded by the mammary ducts. tmpxe7fu0cj_hp_relaxed.owl fat tissue of mammary gland|mammary gland fatty tissue|lobe of mammary gland adipose tissue|mammary gland fat tissue|fat tissue of lobe of breast|lobe of breast adipose tissue|lactiferous gland fatty tissue|lobe of breast fatty tissue|fatty tissue of lobe of mammary gland|lobe of mammary gland fat tissue|fat tissue of lobe of mammary gland|mammary gland adipose tissue|lactiferous gland adipose tissue|adipose tissue of mammary gland|lobe of mammary gland fatty tissue|fat tissue of lactiferous gland|lobe of breast fat tissue|lactiferous gland fat tissue|fatty tissue of lactiferous gland|fatty tissue of lobe of breast|fatty tissue of mammary gland|adipose tissue of lactiferous gland EMAPA:35539|MA:0002911 uberon owl:Class UBERON:0001013 biolink:NamedThing adipose tissue Portion of connective tissue composed of adipocytes enmeshed in areolar tissue. tmpxe7fu0cj_hp_relaxed.owl fat tissue|fatty tissue|fat|bodyfat|adipose|fatty depot EMAPA:35112|ZFA:0005345|SCTID:55603005|BTO:0001487|CALOHA:TS-0013|VHOG:0001284|FMA:20110|AEO:000020|AAO:0000001|MESH:D000273|OpenCyc:Mx4rvVjc_ZwpEbGdrcN5Y29ycA|galen:FattyTissue|MIAA:0000015|TAO:0002134|XAO:0003049|UMLS:C0001527|GAID:920|NCIT:C12472|EHDAA2:0003120|MAT:0000015|EV:0100381|EFO:0000790|MA:0000009|Wikipedia:Adipose_tissue uberon owl:Class Connective tissue in which fat is stored.[TAO]|Tissue that contains adipocytes, used for cushioning, thermal insulation, lubrication (primarily in the pericardium) and energy storage.[AAO] relationship loss: subclass connective tissue proper (AAO:0000099)[AAO] Adipose tissue is unique to vertebrates. It is found in mostmammals, birds, reptiles and amphibians, and a variety is found in some species of fish. Furthermore, in insects the fat body found in larvae as well as in adults shares some homology with adipose tissue.[well established][VHOG] adipose In humans, adipose tissue is located beneath the skin (subcutaneous fat), around internal organs (visceral fat), in bone marrow (yellow bone marrow) and in breast tissue. Adipose tissue is found in specific locations, which are referred to as adipose depots. Adipose tissue contains several cell types, with the highest percentage of cells being adipocytes, which contain fat droplets. Other cell types include fibroblasts, macrophages, and endothelial cells. Adipose tissue contains many small blood vessels.; Mice have eight major adipose depots, four of which are within the abdominal cavity. The paired gonadal depots are attached to the uterus and ovaries in females and the epididymis and testes in males; the paired retroperitoneal depots are found along the dorsal wall of the abdomen, surrounding the kidney, and, when massive, extend into the pelvis. The mesenteric depot forms a glue-like web that supports the intestines, and the omental depot, which originates near the stomach and spleen, and, when massive, extends into the ventral abdomen. in FMA this is dense irregular connective tissue UBERON:0010745 biolink:NamedThing sacral vertebra cartilage element A sacral vertebra endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl sacral vertebral cartilage condensation group|sacral vertebral cartilage condensation EHDAA2:0001773|EMAPA:18009 uberon owl:Class UBERON:2001457 biolink:NamedThing postcranial axial cartilage Cartilage which is part of the axial skeleton. tmpxe7fu0cj_hp_relaxed.owl ZFA:0001457 teleost_anatomy_curators uberon owl:Class This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon HP:0001264 biolink:NamedThing Spastic diplegia Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. tmpxe7fu0cj_hp_relaxed.owl Spastic diplegic|Spastic diparesis UMLS:C0023882|SNOMEDCT_US:281411007|MSH:D002547 owl:Class CHEBI:25985 biolink:NamedThing phenylalanine derivative An amino acid derivative resulting from reaction of alanine at the amino group or the carboxy group, or from the replacement of any hydrogen of phenylalanine by a heteroatom. The definition normally excludes peptides containing phenylalanine residues. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:83821 biolink:NamedThing amino acid derivative Any derivative of an amino acid resulting from reaction at an amino group, carboxy group, side-chain functional group, or from the replacement of any hydrogen by a heteroatom. The definition normally excludes peptides containing amino acid residues. tmpxe7fu0cj_hp_relaxed.owl modified amino acids|amino acid derivatives CHEBI:25359 chebi_ontology owl:Class HP:0032602 biolink:NamedThing Prominent nucleoli of renal tubular epithelial cells Tubular epithelium with nucleoli clearly visible at 100-fold magnification. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032599 biolink:NamedThing Abnormal renal tubular epithelial morphology Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0002084 biolink:NamedThing Encephalocele A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. tmpxe7fu0cj_hp_relaxed.owl Cranium bifidum|Bifid skull MSH:D004677|SNOMEDCT_US:55999004|SNOMEDCT_US:48777005|SNOMEDCT_US:253101008|UMLS:C0014065 A congenital gap in the skull that usually results in a protrusion of brain material. HP:0002736|HP:0100664 human_phenotype owl:Class HP:0002914 biolink:NamedThing Hyperchloriduria An increased concentration of chloride in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urinary chloride UMLS:C1846352 human_phenotype owl:Class HP:0012600 biolink:NamedThing Abnormal urine chloride concentration An abnormal concentration of chloride in the urine. tmpxe7fu0cj_hp_relaxed.owl Abnormal urine Cl concentration|Abnormal urine Cl- concentration UMLS:C4022827 peter 2014-01-16T06:16:24Z human_phenotype owl:Class NBO:0000009 biolink:NamedThing locomotory behavior phenotype "Observable characteristic of behavior associated with the specific movement from place to place of an organism." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl pathological locomotory behaviour 2011-04-14T12:58:40Z George Gkoutos behavior_ontology owl:Class NBO:0000644 biolink:NamedThing voluntary movement behavior phenotype "Observable characteristic of behavior related to movements executed with intent." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-05-27T11:57:12Z George Gkoutos behavior_ontology owl:Class UBERON:0015078 biolink:NamedThing proximal carpal endochondral element A proximal mesopodial endochondral element that is part of a forelimb. tmpxe7fu0cj_hp_relaxed.owl proximal carpal|proximal carpal element uberon owl:Class UBERON:0017750 biolink:NamedThing proximal mesopodial endochondral element A mesopodial endochondral element that is in the most proximal part of the mesopodial skeleton, connected to the zeugopodial skeleton. tmpxe7fu0cj_hp_relaxed.owl awaiting approval by phenoscape curators uberon owl:Class HP:0001518 biolink:NamedThing Small for gestational age Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. tmpxe7fu0cj_hp_relaxed.owl Birth weight less than 10th percentile|Small for gestational age|Low birth weight MSH:D007230|SNOMEDCT_US:276610007|SNOMEDCT_US:267258002|UMLS:C0024032|UMLS:C0235991 HP:0008919|HP:0001422|HP:0008927|HP:0008849 human_phenotype owl:Class HP:0004325 biolink:NamedThing Decreased body weight Abnormally low body weight. tmpxe7fu0cj_hp_relaxed.owl Low body weight|Weight less than 3rd percentile|Decreased weight|Low weight|Decreased body weight SNOMEDCT_US:262285001|UMLS:C1262477|SNOMEDCT_US:248342006|SNOMEDCT_US:161832001|MSH:D013851|UMLS:C1844806|SNOMEDCT_US:89362005|MSH:D015431|UMLS:C0041667 peter 2008-02-27T03:22:00Z HP:0001826|HP:0001823 human_phenotype owl:Class HP:0012487 biolink:NamedThing Cerebellopontine angle arachnoid cyst An arachnoid cyst located at the margin of the cerebellum and pons. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022884 The cerebellopontine angle is in the posterior fossa. peter 2013-11-29T09:03:39Z owl:Class HP:0100702 biolink:NamedThing Arachnoid cyst An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Fluid-filled sac located in membrane surrounding brain or spinal cord|Arachnoid cysts MSH:D016080|SNOMEDCT_US:33595009|UMLS:C0078981 Arachnoid cysts can be found on the brain, or on the spine. Intracranial arachnoid cysts usually occur adjacent to the arachnoidal cistern. Spinal arachnoid cysts may be extradural, intradural, or perineural. doelkens 2011-03-31T12:46:59Z human_phenotype owl:Class HP:0009062 biolink:NamedThing Infantile axial hypotonia Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy. tmpxe7fu0cj_hp_relaxed.owl Hypotonia, axial, in infancy UMLS:C3806604 human_phenotype owl:Class GO:0051961 biolink:NamedThing negative regulation of nervous system development Any process that stops, prevents, or reduces the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. tmpxe7fu0cj_hp_relaxed.owl downregulation of nervous system development|down regulation of nervous system development|down-regulation of nervous system development|inhibition of nervous system development biological_process owl:Class HP:0011754 biolink:NamedThing Pituicytoma A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:608817003|UMLS:C2986550|SNOMEDCT_US:450901008|ICD-O:9432/1 peter 2012-04-22T01:34:00Z human_phenotype owl:Class HP:0011752 biolink:NamedThing Neoplasm of the posterior pituitary The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis. tmpxe7fu0cj_hp_relaxed.owl Neoplasm of the neurohypophysis UMLS:C1334957|NCIT:C3262 peter 2012-04-22T01:31:18Z human_phenotype owl:Class CHEBI:142590 biolink:NamedThing 3-aminoisobutanoic acid zwitterion Zwitterionic form of 3-aminoisobutyric acid arising from migration of a proton from the carboxy group to the amino group; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl 3-azaniumyl-2-methylpropanoate|3-ammonio-2-methylpropanoate|3-aminoisobutanoate 0 C4H9NO2 InChI=1S/C4H9NO2/c1-3(2-5)4(6)7/h3H,2,5H2,1H3,(H,6,7) QCHPKSFMDHPSNR-UHFFFAOYSA-N 103.120 103.06333 C(C(C)C[NH3+])([O-])=O chebi_ontology owl:Class HP:0006361 biolink:NamedThing Irregular femoral epiphysis tmpxe7fu0cj_hp_relaxed.owl Irregular thighbone end part UMLS:C1850658 human_phenotype owl:Class HP:0010582 biolink:NamedThing Irregular epiphyses An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of long bone UMLS:C1846449 sandra1 2009-10-22T02:53:19Z HP:0005023|HP:0005749|HP:0010581|HP:0005007|HP:0003039|HP:0002765 human_phenotype owl:Class UBERON:0010693 biolink:NamedThing pedal digit 1 epithelium An epithelium that is part of a pedal digit 1. tmpxe7fu0cj_hp_relaxed.owl hind limb digit 1 epithelium|foot digit 1 epithelium|pedal digit I epithelium EHDAA2:0002038|EMAPA:17461 uberon owl:Class UBERON:0005226 biolink:NamedThing pedal digit epithelium An epithelium that is part of a toe [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl toe epithelium|foot digit epithelium|hind limb digit epithelium EMAPA:32946|VHOG:0001031 uberon owl:Class HP:0005464 biolink:NamedThing Craniofacial osteosclerosis Abnormally increased density of craniofacial bone tissue. tmpxe7fu0cj_hp_relaxed.owl Cranial sclerosis UMLS:C4025193|UMLS:C1845805 human_phenotype owl:Class CHEBI:146500 biolink:NamedThing D-Galp-(1->3)-D-GalpNAc An amino disaccharide that is 2-acetamido-2-deoxy-D-galactopyranose in which the hydroxy group at position 3 has been converted to the corresponding D-galactopyranoside. The stereochemistry at the anomeric position in each of the galactopyranose rings is not stated. tmpxe7fu0cj_hp_relaxed.owl Gal(?1-3)GalNAc|2-acetamido-2-deoxy-3-O-D-galactopyranosyl-D-galactopyranose|N-[(3R,4R,5R,6R)-2,5-dihydroxy-6-(hydroxymethyl)-4-[(3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxyoxan-3-yl]acetamide|D-galacto-hexopyranosyl-(1->3)-2-acetamido-2-deoxy-D-galacto-hexopyranose|WURCS=2.0/2,2,1/[a2112h-1x_1-5_2*NCC/3=O][a2112h-1x_1-5]/1-2/a3-b1 0 C14H25NO11 InChI=1S/C14H25NO11/c1-4(18)15-7-12(9(20)6(3-17)24-13(7)23)26-14-11(22)10(21)8(19)5(2-16)25-14/h5-14,16-17,19-23H,2-3H2,1H3,(H,15,18)/t5-,6-,7-,8+,9+,10+,11-,12-,13?,14?/m1/s1 HMQPEDMEOBLSQB-PVSBWVJQSA-N 383.350 383.14276 O([C@@H]1[C@@H](NC(=O)C)C(O[C@@H]([C@@H]1O)CO)O)C2O[C@@H]([C@H](O)[C@H](O)[C@H]2O)CO GlyGen:G01416HI|KEGG:G10100|GlyTouCan:G01416HI chebi_ontology owl:Class CHEBI:22484 biolink:NamedThing galactosamine oligosaccharide tmpxe7fu0cj_hp_relaxed.owl galactosamine oligosaccharides chebi_ontology owl:Class UBERON:0004470 biolink:NamedThing musculature of pelvic girdle Any collection of muscles that is part of a pelvic girdle [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pelvic girdle muscle system|muscle group of pelvis|muscular system of pelvis|pelvic girdle muscles|muscle group of pelvic girdle|set of muscles of pelvic girdle|pelvic girdle musculature|set of muscles of pelvis FMA:50205|EHDAA2:0001429|AAO:0000427|EMAPA:18184|FMA:50248 UBERON:0005633|UBERON:0004485 uberon owl:Class we merge two FMA classes here UBERON:0004479 biolink:NamedThing musculature of trunk Any collection of muscles that is part of a trunk [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscular system of trunk|set of muscles of trunk|muscle group of trunk FMA:50187|EFO:0003531|AAO:0011572 currently defined by location rather than attachment uberon owl:Class HP:0000309 biolink:NamedThing Abnormality of the midface An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the midface|Malformation of the midface|Anomaly of the midface|Deformity of the midface UMLS:C4021811 human_phenotype owl:Class HP:0031658 biolink:NamedThing Third heart sound The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients. tmpxe7fu0cj_hp_relaxed.owl S3|Ventricular gallop 2017-12-17 16:01:27+00:00 peter owl:Class HP:0033113 biolink:NamedThing Gallop rhythm In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse. tmpxe7fu0cj_hp_relaxed.owl Triple rhythm 2020-08-30 11:33:21+00:00 peter owl:Class PR:000050181 biolink:NamedThing Ig kappa light chain protein An immunoglobulin light chain protein that is produced from the immunoglobulin kappa locus. tmpxe7fu0cj_hp_relaxed.owl IgKappa Category=gene. Note: In human, the kappa light chain locus is described by https://www.genenames.org/cgi-bin/genefamilies/set/351. In mouse, the kappa locus is described by MGI:96494. protein owl:Class PR:000050175 biolink:NamedThing immunoglobulin light chain protein A protein that is a translation product of some mRNA produced by a somatically recombined immunoglobulin light chain locus. tmpxe7fu0cj_hp_relaxed.owl IgL Category=family. Note: In human, the kappa light chain locus is described by https://www.genenames.org/cgi-bin/genefamilies/set/351, and the lambda light chain locus is described by https://www.genenames.org/cgi-bin/genefamilies/set/353. In mouse, the kappa locus is described by MGI:96494, and the lambda locus is described by MGI:96526. protein owl:Class HP:0032482 biolink:NamedThing Decreased pituitary glycoprotein hormone alpha subunit level An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). tmpxe7fu0cj_hp_relaxed.owl Decreased pituitary glycoprotein alpha subunit level|Decreased pituitary glycoprotein polypeptide alpha subunit level 2019-04-11 11:33:21+00:00 This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. peter owl:Class GO:0034350 biolink:NamedThing regulation of glial cell apoptotic process Any process that modulates the frequency, rate, or extent of glial cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of glial cell apoptosis biological_process owl:Class GO:0042981 biolink:NamedThing regulation of apoptotic process Any process that modulates the occurrence or rate of cell death by apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of apoptosis|apoptosis regulator activity This term should only be used when it is not possible to determine which phase or subtype of the apoptotic process is regulated by a gene product. Whenever detailed information is available, the more granular children terms should be used. biological_process owl:Class GO:0048585 biolink:NamedThing negative regulation of response to stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. tmpxe7fu0cj_hp_relaxed.owl inhibition of response to stimulus|down regulation of response to stimulus|down-regulation of response to stimulus|downregulation of response to stimulus Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class HP:0012603 biolink:NamedThing Abnormal urine sodium concentration An abnormal concentration of sodium in the urine. tmpxe7fu0cj_hp_relaxed.owl Abnormal urine Na+ levels|Abnormal urine Na concentration UMLS:C4022825 peter 2014-01-16T06:19:27Z human_phenotype owl:Class HP:0012591 biolink:NamedThing Abnormal urinary electrolyte concentration An abnormality in the concentration of electrolytes in the urine. tmpxe7fu0cj_hp_relaxed.owl Urinary electrolyte imbalance UMLS:C4022833 peter 2014-01-16T05:44:11Z owl:Class UBERON:0011136 biolink:NamedThing ligament of vertebral column Ligament that joins successive centra. Important in controlling the stiffness of the vertebral column when it flexes. tmpxe7fu0cj_hp_relaxed.owl intervertebral ligament|vertebral column ligament|vertebral centrum ligament FMA:31892 uberon owl:Class UBERON:0008846 biolink:NamedThing skeletal ligament Dense regular connective tissue connecting two or more adjacent skeletal elements[VSAO,modified]. tmpxe7fu0cj_hp_relaxed.owl articular larua|articular ligament|true ligament|ligament EV:0100144|CALOHA:TS-2146|EHDAA2:0003232|VSAO:0000072|GAID:118|FMA:25624|MA:0003005|AEO:0000090|AAO:0010444 Knee:diagram.svg logical definition deliberately made strict to avoid classifying MA:spiral ligament as both nonskeletal and skeletal. see https://github.com/obophenotype/mouse-anatomy-ontology/issues/71 uberon owl:Class Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ.[VSAO]|Ligament organ that primarily consists of regular dense connective tissue aggregated into fasciculi; connects bone and cartilage organs. Examples: sutural ligament, ligament of pinna, tarsal ligament[FMA:25624]. HP:0009275 biolink:NamedThing Contracture of the distal interphalangeal joint of the 4th finger Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024476 doelkens 2009-01-07T04:10:39Z human_phenotype owl:Class HP:0011298 biolink:NamedThing Prominent digit pad A soft tissue prominence of the ventral aspects of the fingertips or toe tips. tmpxe7fu0cj_hp_relaxed.owl Prominent digit pad UMLS:C4023424 The prominence of the finger or toe pads varies throughout life, being greater in neonates and dependent on the state of hydration. This term should not be used if the digit has clubbing. Note that the synonym "fetal fingertip pads" should not be interpreted to mean that the prominent pad necessarily was present in this individual since fetal life. We do not endorse the use of the term "Persistent fetal pads" as this term implies knowledge of the natural history of this finding, which may or may not be known. peter 2012-02-11T07:18:29Z human_phenotype owl:Class HP:0011356 biolink:NamedThing Regional abnormality of skin An abnormality of the skin that is restricted to a particular body region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023402 peter 2012-03-01T02:39:14Z human_phenotype owl:Class CHEBI:24403 biolink:NamedThing glycosyl group An organic group obtained by removing the hydroxy group from the hemiacetal function of a monosaccharide or monosaccharide derivative and, by extension, of a lower oligosaccharide or oligosaccharide derivative. tmpxe7fu0cj_hp_relaxed.owl groupe glycosyle|glycosyl groups|glycosyl group chebi_ontology owl:Class CHEBI:33247 biolink:NamedThing organic group Any substituent group or skeleton containing carbon. tmpxe7fu0cj_hp_relaxed.owl organic groups chebi_ontology owl:Class HP:0009781 biolink:NamedThing Lester's sign A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024210 peter 2009-02-03T04:50:17Z human_phenotype owl:Class HP:0001100 biolink:NamedThing Heterochromia iridis Heterochromia iridis is a difference in the color of the iris in the two eyes. tmpxe7fu0cj_hp_relaxed.owl Different colored eyes|Different coloured eyes|Heterochromia irides UMLS:C0423318|SNOMEDCT_US:247033008|MSH:C538115 human_phenotype owl:Class HP:0041196 biolink:NamedThing Fractured distal epiphysis of radius A partial or complete breakage of the distal epiphysis of radius. tmpxe7fu0cj_hp_relaxed.owl bone distal epiphysis of radius owl:Class HP:0003841 biolink:NamedThing Fragmented epiphyses of the upper limbs tmpxe7fu0cj_hp_relaxed.owl Fragmented end part of upper limb bones UMLS:C4025559 human_phenotype owl:Class UBERON:0001796 biolink:NamedThing aqueous humor of eyeball A thick watery refractive medium that fills the space between the lens and the cornea[WP]. tmpxe7fu0cj_hp_relaxed.owl humor aquosus|aqueous humour|aqueous humor FMA:58819|MESH:D001082|ZFA:0005564|EHDAA2:0000139|GAID:890|OpenCyc:Mx4rvdGd-5wpEbGdrcN5Y29ycA|EHDAA:10196|SCTID:280587006|ENVO:02000024|Wikipedia:Aqueous_humor|UMLS:C0003662|VHOG:0000548|EMAPA:18232|NCIT:C13190|MA:0001236 http://upload.wikimedia.org/wikipedia/commons/1/1e/Schematic_diagram_of_the_human_eye_en.svg uberon owl:Class The fluid produced by the ciliary process in the eye and occupying the anterior and posterior chambers. It provides nourishment for the lens and cornea and maintains the ocular pressure, and hence the optical integrity of the eyeball. [TFD][VHOG] (...) we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya (reference 1); Although the eye varies greatly in adaptative details among vertebrates, its basic structure is the same in all. The human eye is representative of the design typical for a tetrapod. (...) A watery aqueous humor fills the spaces in the eye in front of the lens (...) (reference 2).[well established][VHOG] FMA says A+P chambers, and MA states A chamber. ZFA states A chamber and tha it is produced primarily by dorsal ciliary epithelial cells.To be investigated across taxa. HP:0410358 biolink:NamedThing Decreased high-mannose N-glycan level An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins. tmpxe7fu0cj_hp_relaxed.owl Decreased high-mannose N-glycans on glycoprotein concentration owl:Class HP:0410356 biolink:NamedThing Abnormal high-mannose N-glycan level An abnormal concentration of high-mannose N-glycans on glycoproteins. tmpxe7fu0cj_hp_relaxed.owl Abnormal high-mannose N-glycans on glycoprotein concentration owl:Class GO:0097534 biolink:NamedThing lymphoid lineage cell migration The orderly movement of a lymphoid lineage cell from one site to another. A lymphoid lineage cell, also called a lymphoid lineage restricted progenitor cell, is a progenitor cell restricted to the lymphoid lineage. tmpxe7fu0cj_hp_relaxed.owl lymphoid lineage restricted progenitor cell migration pr 2013-11-28T10:47:15Z biological_process owl:Class UBERON:0010842 biolink:NamedThing calcaneum cartilage element A calcaneum endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl calcaneous cartilage element EMAPA:18143 uberon owl:Class UBERON:0015014 biolink:NamedThing calcaneum endochondral element A calcaneum bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl calcaneum skeletal element|calcaneum element uberon owl:Class HP:0004921 biolink:NamedThing Abnormal magnesium concentration An abnormality of magnesium ion homeostasis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of magnesium homeostasis|Abnormal magnesium metabolism|Abnormal Mg concentration UMLS:C4025274|UMLS:C4020826 HP:0008274 human_phenotype owl:Class HP:0010927 biolink:NamedThing Abnormal blood inorganic cation concentration An abnormality of divalent inorganic cation homeostasis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of divalent inorganic cation homeostasis UMLS:C4023648 peter 2011-01-06T07:47:18Z human_phenotype owl:Class CHEBI:71300 biolink:NamedThing EC 2.* (transferase) inhibitor An enzyme inhibitor that inhibits the action of a transferase (EC 2.*) tmpxe7fu0cj_hp_relaxed.owl EC 2.* inhibitors|EC 2.* inhibitor|EC 2 inhibitor|EC 2.* (transferase) inhibitors|EC 2 inhibitors|transferase inhibitor|transferase inhibitors Wikipedia:Transferase chebi_ontology owl:Class CHEBI:23924 biolink:NamedThing enzyme inhibitor A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. tmpxe7fu0cj_hp_relaxed.owl enzyme inhibitors|enzyme inhibitor|inhibiteurs enzymatiques|inhibidor enzimatico|inhibidores enzimaticos|inhibiteur enzymatique chebi_ontology owl:Class HP:0004233 biolink:NamedThing Advanced ossification of carpal bones Ossification of carpal bones at an abnormally early age. tmpxe7fu0cj_hp_relaxed.owl Precociously ossified carpal bones|Accelerated wrist bone maturation|Accelerated carpal bone maturation|Advanced carpal ossification|Advanced carpal bone age UMLS:C1849292|UMLS:C4280536 HP:0006104 human_phenotype owl:Class HP:0006257 biolink:NamedThing Abnormality of carpal bone ossification tmpxe7fu0cj_hp_relaxed.owl Abnormal ankle bone maturation UMLS:C4025075 peter 2008-03-28T02:29:00Z human_phenotype owl:Class HP:0031572 biolink:NamedThing Tessier number 1 facial cleft As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly. tmpxe7fu0cj_hp_relaxed.owl 2017-10-14 12:27:58+00:00 peter owl:Class HP:0031571 biolink:NamedThing Paramedian facial cleft A type of facial cleft located near to but not directly on the midline of the face. tmpxe7fu0cj_hp_relaxed.owl 2017-10-14 12:27:05+00:00 peter owl:Class GO:0005173 biolink:NamedThing stem cell factor receptor binding Binding to a stem cell factor receptor (SCFR), a type III transmembrane kinase receptor. tmpxe7fu0cj_hp_relaxed.owl stem cell factor receptor ligand|SCFR binding|SCF|stem cell factor|KIT binding molecular_function owl:Class GO:0005126 biolink:NamedThing cytokine receptor binding Binding to a cytokine receptor. tmpxe7fu0cj_hp_relaxed.owl hematopoietin/interferon-class (D200-domain) cytokine receptor ligand|hematopoietin/interferon-class (D200-domain) cytokine receptor binding molecular_function owl:Class HP:0004945 biolink:NamedThing Extracranial internal carotid artery dissection A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025267 human_phenotype owl:Class NBO:0000416 biolink:NamedThing vestibulo-ocular reflex "A reflex eye movement that stabilizes images on the retina during head movement by producing an eye movement in the direction opposite to head movement, thus preserving the image on the center of the visual field." [wikipedia:Vestibulo-ocular_reflex] tmpxe7fu0cj_hp_relaxed.owl vestibuloocular reflex|VOR|oculovestibular reflex 2011-04-06T06:11:09Z George Gkoutos behavior_ontology owl:Class NBO:0000411 biolink:NamedThing cranial nerve related reflex "A reflex that involves cranial nerves." [wikipedia:Reflex] tmpxe7fu0cj_hp_relaxed.owl 2011-04-06T04:28:27Z George Gkoutos behavior_ontology owl:Class CHEBI:50910 biolink:NamedThing neurotoxin A poison that interferes with the functions of the nervous system. tmpxe7fu0cj_hp_relaxed.owl neurotoxins|nerve poisons|neurotoxicant|neurotoxic agents|neurotoxic agent|agente neurotoxico|nerve poison Wikipedia:Neurotoxin CHEBI:50911 chebi_ontology owl:Class CHEBI:52209 biolink:NamedThing aetiopathogenetic role A role played by the molecular entity or part thereof which causes the development of a pathological process. tmpxe7fu0cj_hp_relaxed.owl etiopathogenetic role|etiopathogenetic agent chebi_ontology owl:Class UBERON:0005995 biolink:NamedThing mitral valve anulus The fibrous ring of the mitral valve that attaches the cusps of mitral valve to the heart, and which consists of portions of the fibrous scallops of the anterior and posterior cusps. tmpxe7fu0cj_hp_relaxed.owl fibrous ring of mitral valve|anulus of mitral valve|mitral valvar anulus|mitral annulus|mitral anulus FMA:9498|EMAPA:37419 uberon owl:Class HP:0001756 biolink:NamedThing Vestibular hypofunction Reduced functioning of the vestibular apparatus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1848606 human_phenotype owl:Class HP:0001751 biolink:NamedThing Vestibular dysfunction An abnormality of the functioning of the vestibular apparatus. tmpxe7fu0cj_hp_relaxed.owl Impaired vestibular function|Interictal vestibular dysfunction|Vestibular function defect UMLS:C1843865 The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body. HP:0006917|HP:0007921 human_phenotype owl:Class HP:0410135 biolink:NamedThing Cold urticaria Urticaria may be caused by cold temperatures. tmpxe7fu0cj_hp_relaxed.owl 2018-03-02 19:45:27+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0410134 biolink:NamedThing Physical urticaria Urticaria caused by physical agents, such as heat, cold, light, friction. tmpxe7fu0cj_hp_relaxed.owl 2018-03-02 19:37:30+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0033965 biolink:NamedThing Interlobular vein intimal mucoid edema Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. tmpxe7fu0cj_hp_relaxed.owl Intimal mucoid edema within interlobular veins 2021-06-24 12:47:37+00:00 peter owl:Class HP:0100393 biolink:NamedThing Short middle phalanx of the 4th toe Developmental hypoplasia of the middle phalanx of fourth toe. tmpxe7fu0cj_hp_relaxed.owl Short middle bone of 4th toe|Short middle phalanx of the fourth toe|Hypoplastic/small middle phalanx of the 4th toe UMLS:C4021004 human_phenotype owl:Class HP:0032725 biolink:NamedThing Focal impaired awareness clonic seizure A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032712 biolink:NamedThing Focal impaired awareness motor seizure A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal motor impaired awareness seizure peter owl:Class HP:0002232 biolink:NamedThing Patchy alopecia Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. tmpxe7fu0cj_hp_relaxed.owl Patchy baldness|Alopecia areata SNOMEDCT_US:68225006|UMLS:C0002171|UMLS:C1862862|MSH:C531609|MSH:D000506 HP:0002229 owl:Class HP:0011360 biolink:NamedThing Acquired abnormal hair pattern An abnormality of the distribution of hair growth that is acquired during the course of life. tmpxe7fu0cj_hp_relaxed.owl Acquired abnormal hair pattern UMLS:C4023399 peter 2012-03-01T08:36:23Z human_phenotype owl:Class HP:0009571 biolink:NamedThing Curved middle phalanx of the 2nd finger Curved appearance of the middle phalanx of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Curved middle bone of the index finger UMLS:C4024286 doelkens 2009-01-28T05:10:24Z human_phenotype owl:Class HP:0009846 biolink:NamedThing Curved middle phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Curved middle finger bonds of the hand UMLS:C4024186 doelkens 2009-03-11T12:15:55Z HP:0009863 human_phenotype owl:Class UBERON:0009980 biolink:NamedThing condyle of femur A condyle that is part of a distal epiphysis of femur. tmpxe7fu0cj_hp_relaxed.owl condylus femoralis|condylus femoris|femoral condyle|fibular condyle FMA:32855|galen:FemoralCondyle|NCIT:C114186|AAO:0000900 uberon owl:Class Convex articular facet of the distal head of the femur that articulates with the proximal head of the fibula.[AAO] UBERON:0009979 biolink:NamedThing condyle An articular prominence of a bone, typically present in pairs, resembling a pair of knuckles. Examples: Condyle of humerus, condyle of femur. tmpxe7fu0cj_hp_relaxed.owl condylus TAO:0002259|galen:Condyle|FMA:75434|NCIT:C83002|UMLS:C0524414 uberon owl:Class the round prominence at the end of a bone, most often part of a joint - an articulation with another bone[WP][Wikipedia:Condyle_(anatomy)].|Protuberance on a bone that participates in a joint with another bone.[TAO] condyloid|condylar HP:0010952 biolink:NamedThing Mild fetal ventriculomegaly A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637). tmpxe7fu0cj_hp_relaxed.owl Mild foetal ventriculomegaly UMLS:C4023628 A ventricular atrial diameter of more than 10 mm at 20-24 weeks of gestation has been accepted as defining ventriculomegaly because it represents at least 3 standard deviations above the mean (which is roughly 5 mm at 20-24 weeks of gestation). If the diameter is above 15 mm, the ventriculomegaly is considered to be severe. Amongst the most common causes of ventriculomegaly are impaired absorption of CSF, developmental cerebral defects, and destroyed brain tissue. peter 2011-01-17T01:36:57Z owl:Class CL:0000213 biolink:NamedThing lining cell A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism. tmpxe7fu0cj_hp_relaxed.owl boundary cell cell owl:Class HP:0200073 biolink:NamedThing Respiratory insufficiency due to defective ciliary clearance tmpxe7fu0cj_hp_relaxed.owl UMLS:C3552099 sebastiankohler 2013-05-31T04:31:32Z human_phenotype owl:Class HP:0002093 biolink:NamedThing Respiratory insufficiency tmpxe7fu0cj_hp_relaxed.owl Respiratory impairment|progressive respiratory failure|Respiratory function loss SNOMEDCT_US:409623005|UMLS:C4020855|UMLS:C0035229|MSH:D012131 HP:0004893|HP:0006542|HP:0005937 human_phenotype owl:Class CHEBI:29991 biolink:NamedThing L-aspartate(1-) An aspartate(1-) that is the conjugate base of L-aspartic acid. tmpxe7fu0cj_hp_relaxed.owl L-aspartic acid monoanion|hydrogen L-aspartate|L-aspartate(1-)|(2S)-2-ammoniosuccinate|L-aspartate|(2S)-2-ammoniobutanedioate -1 C4H6NO4 InChI=1S/C4H7NO4/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H,6,7)(H,8,9)/p-1/t2-/m0/s1 CKLJMWTZIZZHCS-REOHCLBHSA-M 132.09478 132.03023 [NH3+][C@@H](CC([O-])=O)C([O-])=O Gmelin:327374|Reaxys:15801578 CHEBI:13085|CHEBI:21244 chebi_ontology owl:Class CHEBI:62031 biolink:NamedThing polar amino acid zwitterion Zwitterionic form of a polar amino acid having an anionic carboxy group and a protonated amino group. tmpxe7fu0cj_hp_relaxed.owl a polar amino acid 0 C2H4NO2R 74.059 74.02420 C(C([O-])=O)(*)[NH3+] MetaCyc:Polar-amino-acids chebi_ontology owl:Class GO:0035929 biolink:NamedThing steroid hormone secretion The regulated release of any steroid that acts as a hormone into the circulatory system. tmpxe7fu0cj_hp_relaxed.owl bf 2011-07-20T01:01:00Z biological_process owl:Class GO:0140353 biolink:NamedThing lipid export from cell The directed movement of a lipid from a cell, into the extracellular region. tmpxe7fu0cj_hp_relaxed.owl lipid efflux pg 2019-05-22T11:33:07Z biological_process owl:Class HP:0032015 biolink:NamedThing Dysmetric horizontal saccades Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction. tmpxe7fu0cj_hp_relaxed.owl 2018-07-22 16:33:04+00:00 peter owl:Class HP:0000641 biolink:NamedThing Dysmetric saccades The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results. tmpxe7fu0cj_hp_relaxed.owl Uncoordinated eye movement|Dysmetric eye movements|Dysmetric eye saccades UMLS:C1836392 human_phenotype owl:Class HP:0006339 biolink:NamedThing Conical mandibular incisor An abnormal conical morphology of the primary or permanent mandibular incisors. tmpxe7fu0cj_hp_relaxed.owl Pointed mandibular incisor|Lower front shark tooth|Pointed mandibular incisors|Peg shaped lower front tooth|Conoid mandibular incisor|Peg shaped mandibular incisor|Cone shaped lower front tooth UMLS:C4280449|UMLS:C4020818|UMLS:C4280450 human_phenotype owl:Class HP:0011065 biolink:NamedThing Conical incisor An abnormal conical morphology of the incisor tooth. tmpxe7fu0cj_hp_relaxed.owl Cone shaped front tooth|Peg shaped front tooth|Pointed incisor|Shark tooth incisor|Pointed front tooth|Peg-shaped incisors|Conoid incisor|Peg shaped incisors UMLS:C4020759|UMLS:C4280342|UMLS:C4280341|UMLS:C1856136 Conical incisors are incisors that are round in cross-sectional views of the crown or that have a rounded appearance. Conical incisors may have a pointed shape that tapers to a point at the tip of the tooth. One speaks of conical incisor for a conical shaped tooth that is located in the region where incisors normally are. peter 2011-03-10T02:14:34Z HP:0011066|HP:0000673|HP:0006345 owl:Class HP:0010779 biolink:NamedThing Large pelvis bone The presence of an abnormally large pelvis. tmpxe7fu0cj_hp_relaxed.owl Large pelvis bone|Large pelvis UMLS:C4072882|UMLS:C4019074 sdoelken 2010-04-29T11:03:39Z human_phenotype owl:Class HP:0040163 biolink:NamedThing Abnormal pelvis bone morphology tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of pelvis bone UMLS:C4073132 owl:Class UBERON:0017635 biolink:NamedThing paired venous dural sinus tmpxe7fu0cj_hp_relaxed.owl paired dural venous sinus FMA:52568 uberon owl:Class GO:0061102 biolink:NamedThing stomach neuroendocrine cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuroendocrine cell of the stomach epithelium. tmpxe7fu0cj_hp_relaxed.owl gastric neuroendocrine cell differentiation dph 2010-04-28T09:47:07Z biological_process owl:Class GO:0061101 biolink:NamedThing neuroendocrine cell differentiation The process in which a relatively unspecialized cell acquires specialized structural and/or functional features of a neuroendocrine cell. A neuroendocrine cell is a cell that receives input form a neuron which controls the secretion of an endocrine substance. tmpxe7fu0cj_hp_relaxed.owl dph 2010-04-28T09:42:20Z biological_process owl:Class HP:0031232 biolink:NamedThing Increased incisura width Breadth of the incisura from the anterior to posterior border greater than that observed in the average population. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 13:02:22+00:00 This aspect may be difficult to assess in instances where the anterior and posterior walls of the incisura are not parallel. peter owl:Class HP:0031228 biolink:NamedThing Abnormal incisura morphology An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 12:57:09+00:00 peter owl:Class HP:0009183 biolink:NamedThing Joint contracture of the 5th finger Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. tmpxe7fu0cj_hp_relaxed.owl 5th finger camptodactyly|Fifth finger camptodactyly UMLS:C1865702 peter 2008-12-29T04:11:30Z HP:0001184 human_phenotype owl:Class HP:0004207 biolink:NamedThing Abnormal 5th finger morphology An abnormality affecting one or both 5th fingers. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the pinky finger|Abnormality of the little finger|Abnormality of the pinkie finger|Abnormality of the 5th finger UMLS:C4021678 human_phenotype owl:Class HP:0011369 biolink:NamedThing Mongolian blue spot Congenital deep dermal melanosis in the sacral area. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0265985|MSH:D049328|SNOMEDCT_US:40467008 peter 2012-03-03T03:34:48Z human_phenotype owl:Class UBERON:0005434 biolink:NamedThing cervical region tmpxe7fu0cj_hp_relaxed.owl subdivision of neck|neck subdivision|region of neck|cervical region FMA:24219|SCTID:123958008 uberon owl:Class UBERON:0011676 biolink:NamedThing subdivision of organism along main body axis A major subdivision of an organism that divides an organism along its main body axis (typically anterio-posterior axis). In vertebrates, this is based on the vertebral column. tmpxe7fu0cj_hp_relaxed.owl body segment|axial subdivision of organism|main body segment Ideally this would be disjoint with analagous class for appendicular axes, but currently 'appendages' like antennae, horns cause a problem uberon owl:Class HP:0025656 biolink:NamedThing Prenatal double bubble sign Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0000410 biolink:NamedThing Mixed hearing impairment A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. tmpxe7fu0cj_hp_relaxed.owl Mixed hearing impairment|Hearing loss, mixed|Mixed hearing loss UMLS:C0155552|SNOMEDCT_US:77507001|MSH:D046089 human_phenotype owl:Class HP:0000407 biolink:NamedThing Sensorineural hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. tmpxe7fu0cj_hp_relaxed.owl Hearing loss, sensorineural|Sensorineural hearing loss|Sensorineural deafness UMLS:C0018784|SNOMEDCT_US:60700002|MSH:D006319 Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). HP:0008611|HP:0008613|HP:0000374|HP:0008576|HP:0001916|HP:0008565|HP:0008614|HP:0008538|HP:0001753|HP:0008553 human_phenotype owl:Class CHEBI:30411 biolink:NamedThing cobalamin A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified. tmpxe7fu0cj_hp_relaxed.owl Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-cobamide|COBALAMIN|cobalamin PMID:15181872|PMID:11371572|PDBeChem:B12|COMe:MOL000036 chebi_ontology owl:Class GO:1901888 biolink:NamedThing regulation of cell junction assembly Any process that modulates the frequency, rate or extent of cell junction assembly. tmpxe7fu0cj_hp_relaxed.owl tb 2013-02-06T19:40:32Z biological_process owl:Class GO:0005172 biolink:NamedThing vascular endothelial growth factor receptor binding Binding to a vascular endothelial growth factor receptor. tmpxe7fu0cj_hp_relaxed.owl VEGFR binding|VEGF receptor binding|vascular endothelial growth factor|vascular endothelial growth factor receptor ligand molecular_function owl:Class GO:0070851 biolink:NamedThing growth factor receptor binding Binding to a growth factor receptor. tmpxe7fu0cj_hp_relaxed.owl mah 2009-08-07T11:23:02Z molecular_function owl:Class HP:0000683 biolink:NamedThing Grayish enamel A grey discoloration of the dental enamel. tmpxe7fu0cj_hp_relaxed.owl Grey tooth shade|Grayish enamel|Gray tooth shade|Gray colored tooth enamel|Greyish enamel|Grey coloured tooth enamel UMLS:C1854783 Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present. human_phenotype owl:Class HP:0000682 biolink:NamedThing Abnormal dental enamel morphology An abnormality of the dental enamel. tmpxe7fu0cj_hp_relaxed.owl Malformation of tooth enamel|Abnormal tooth enamel|Enamel abnormality|Malformation of dental enamel|Abnormality of dental enamel|Defective tooth enamel|Dystrophic tooth enamel|Enamel abnormalities UMLS:C4280615|UMLS:C4280262|UMLS:C4021800 The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite. HP:0006322 owl:Class CHEBI:17792 biolink:NamedThing organohalogen compound A compound containing at least one carbon-halogen bond (where X is a halogen atom). tmpxe7fu0cj_hp_relaxed.owl organohalogen compounds|organic halide|RX|organic halides 0 RX ** KEGG:C01322|MetaCyc:Organohalogen-Compounds CHEBI:36684|CHEBI:13444|CHEBI:8767 chebi_ontology owl:Class GO:0098632 biolink:NamedThing cell-cell adhesion mediator activity The binding by a cell-adhesion protein on the cell surface to an extracellular matrix component, to mediate adhesion of the cell to another cell. tmpxe7fu0cj_hp_relaxed.owl cell-cell adhesion molecule|protein binding involved in cell-cell adhesion molecular_function owl:Class GO:0005515 biolink:NamedThing protein binding Binding to a protein. tmpxe7fu0cj_hp_relaxed.owl glycoprotein binding|protein amino acid binding GO:0045308|GO:0001948 molecular_function owl:Class HP:0000017 biolink:NamedThing Nocturia Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. tmpxe7fu0cj_hp_relaxed.owl Nycturia SNOMEDCT_US:139394000|UMLS:C0028734|MSH:D053158 Often occuring as a result of heart insufficiency. human_phenotype owl:Class UBERON:0002079 biolink:NamedThing left cardiac atrium A cardiac atrium that is in the left side of the heart. It receives oxygenated blood from the pulmonary veins, In mammals this is pumped into the left ventricle, via the Mitral valve. tmpxe7fu0cj_hp_relaxed.owl cardiac left atrium|heart left atrium|left atrium of heart|left atrium|atrium sinistrum|left cardiac atrium galen:LeftAtrium|AAO:0010247|BTO:0001702|XAO:0003191|Wikipedia:Left_atrium|FMA:7097|VHOG:0000369|NCIT:C12869|UMLS:C0225860|OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rDJ89oqgPEdudWQACs5b6Bw|OpenCyc:Mx4rkJN1AagEEdudWQACs5b6Bw|EHDAA2:0000275|EMAPA:17315|MA:0000074|SCTID:244387002 http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg uberon owl:Class Left cardiac chamber which is continuous with the pulmonary venous trunk.[FMA]|The chamber of the heart that receives blood from the lungs[XAO:EJS]. The tetrapod clade develops a complete atrial septum and loses the fifth aortic arch altogether.[well established][VHOG] https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0035553 biolink:NamedThing left cardiac chamber Any chamber of the left side of the heart. tmpxe7fu0cj_hp_relaxed.owl FMA:7166|SCTID:362008007 uberon owl:Class HP:0011620 biolink:NamedThing Abnormality of abdominal situs An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023266 peter 2012-04-08T09:30:05Z owl:Class HP:0002012 biolink:NamedThing Abnormality of the abdominal organs An abnormality of the viscera of the abdomen. tmpxe7fu0cj_hp_relaxed.owl Gastrointestinal tract defects|Abnormality of the abdominal organs UMLS:C4021764 The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. human_phenotype owl:Class HP:0010409 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the middle bone of the 2nd toe UMLS:C4023846 doelkens 2009-07-16T12:43:52Z human_phenotype owl:Class HP:0100935 biolink:NamedThing Sclerosis of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the middle bone of the 2nd toe UMLS:C4021923 human_phenotype owl:Class GO:0019866 biolink:NamedThing organelle inner membrane The inner, i.e. lumen-facing, lipid bilayer of an organelle envelope; usually highly selective to most ions and metabolites. tmpxe7fu0cj_hp_relaxed.owl See also the cellular component term 'outer membrane ; GO:0019867'. cellular_component owl:Class HP:0011907 biolink:NamedThing Reduced alpha/beta synthesis ratio A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023136 peter 2012-06-03T05:43:45Z human_phenotype owl:Class HP:0005560 biolink:NamedThing Imbalanced hemoglobin synthesis Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia. tmpxe7fu0cj_hp_relaxed.owl Imbalanced haemoglobin synthesis|Imbalanced Hb synthesis UMLS:C4025177 While imbalanced hemoglobin synthesis can be inferred from other findings including those of hemoglobin electrophoresis, the determination of this feature requires investigation of hemoglobin synthesis in vitro, e.g., by incubation of washed peripheral blood erythrocytes and bone marrow cells with radioactively labeled leucine followed by column chromatography. peter 2008-03-27T10:44:00Z human_phenotype owl:Class UBERON:0014672 biolink:NamedThing distal interphalangeal joint of pedal digit 2 tmpxe7fu0cj_hp_relaxed.owl distal interphalangeal joint of second toe|distal interphalangeal joint of second digit of foot|distal interphalangeal joint of pedal digit II FMA:35369 uberon owl:Class UBERON:0009768 biolink:NamedThing distal interphalangeal joint An inter-phalangeal joint that connects a distal phalanx to either a medial or proximal phalanx. tmpxe7fu0cj_hp_relaxed.owl DIP joint|DIJ joint NCIT:C101529|FMA:65024 uberon owl:Class GO:1905809 biolink:NamedThing negative regulation of synapse organization Any process that stops, prevents or reduces the frequency, rate or extent of synapse organization. tmpxe7fu0cj_hp_relaxed.owl downregulation of synapse organisation|down regulation of synapse organisation|down regulation of synapse morphogenesis|down-regulation of synapse organization and biogenesis|down-regulation of synapse organization|negative regulation of synapse organisation|negative regulation of synapse organization and biogenesis|downregulation of synapse development|down-regulation of synapse morphogenesis|down regulation of synapse organization|down-regulation of synapse development|downregulation of synapse organization and biogenesis|down-regulation of synapse organisation|inhibition of synapse morphogenesis|down regulation of synapse organization and biogenesis|downregulation of synapse morphogenesis|negative regulation of synapse development|inhibition of synapse development|down regulation of synapse development|negative regulation of synapse morphogenesis|downregulation of synapse organization|inhibition of synapse organization and biogenesis|inhibition of synapse organization|inhibition of synapse organisation tb 2017-01-11T22:03:41Z biological_process owl:Class UBERON:0002546 biolink:NamedThing cranial placode Ectodermal placode that develops in the head into a part of the sensory nervous system. With a few exceptions (lens, adenohypophyseal), cranial placodes are neurogenic. tmpxe7fu0cj_hp_relaxed.owl ectodermal placode|cranial placodes|ectodermal cranial placode|placode XAO:0000305|EFO:0001650|MAT:0000369|MIAA:0000369|FMA:293966|AAO:0010466 Do not merge with neurogenic placode uberon owl:Class Comparisons of developmental gene expression suggest that the anterior ectoderm in amphioxus may be homologous to the vertebrate olfactory placode, the only vertebrate placode with primary, not secondary, neurons The term placode or placodes also applies to developing organs such as teeth, mammary glands, hair follicles, feathers and scales. We include a separate parent class for this. to avoid confusion, we include neurogenic placode as a subclass HP:0000001 biolink:NamedThing All tmpxe7fu0cj_hp_relaxed.owl UMLS:C0444868 Root of all terms in the Human Phenotype Ontology. human_phenotype owl:Class GO:0003213 biolink:NamedThing cardiac right atrium morphogenesis The process in which the right cardiac atrium is generated and organized. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T09:49:03Z biological_process owl:Class GO:0003209 biolink:NamedThing cardiac atrium morphogenesis The process in which the cardiac atrium is generated and organized. A cardiac atrium receives blood from a vein and pumps it to a cardiac ventricle. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T09:39:44Z biological_process owl:Class HP:0004993 biolink:NamedThing Slender long bones with narrow diaphyses Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones. tmpxe7fu0cj_hp_relaxed.owl Slender long bones with narrow shaft UMLS:C2675547 human_phenotype owl:Class HP:0031528 biolink:NamedThing Subretinal deposits Deposits accumulating between the outer retina and the retinal pigment epithelium. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 00:49:01+00:00 peter owl:Class GO:2000194 biolink:NamedThing regulation of female gonad development Any process that modulates the frequency, rate or extent of female gonad development. tmpxe7fu0cj_hp_relaxed.owl regulation of ovary development|regulation of ovarian development yaf 2010-10-19T10:45:34Z biological_process owl:Class HP:0007232 biolink:NamedThing Spinocerebellar tract disease in lower limbs tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024919 human_phenotype owl:Class HP:0002503 biolink:NamedThing Spinocerebellar tract degeneration tmpxe7fu0cj_hp_relaxed.owl Spinocerebellar degeneration|Degeneration of the spinocerebellar tracts UMLS:C1866751 human_phenotype owl:Class GO:0051301 biolink:NamedThing cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Cell_division Note that this term differs from 'cytokinesis ; GO:0000910' in that cytokinesis does not include nuclear division. biological_process owl:Class UBERON:0004912 biolink:NamedThing biliary bud tmpxe7fu0cj_hp_relaxed.owl hepatic diverticulum EMAPA_RETIRED:16565|EMAPA:16561|EHDAA2:0000171|VHOG:0001351 http://upload.wikimedia.org/wikipedia/commons/4/4f/Gray1088.png uberon owl:Class UBERON:0007499 biolink:NamedThing epithelial sac An epithelial tube that is open at one end only. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0003115|AEO:0000115 uberon owl:Class UBERON:0005076 biolink:NamedThing hindbrain-spinal cord boundary An anatomical boundary that adjacent_to a hindbrain and adjacent_to a spinal cord. tmpxe7fu0cj_hp_relaxed.owl hindbrain-spinal cord boundary region uberon owl:Class HP:0011028 biolink:NamedThing Abnormality of blood circulation An abnormality of blood circulation. tmpxe7fu0cj_hp_relaxed.owl Blood circulation disorder UMLS:C4023585|UMLS:C4020760 peter 2011-03-03T10:25:21Z owl:Class HP:0000799 biolink:NamedThing Renal steatosis Abnormal fat accumulation in the kidneys. tmpxe7fu0cj_hp_relaxed.owl Fatty kidney UMLS:C4021796 human_phenotype owl:Class HP:0012210 biolink:NamedThing Abnormal renal morphology Any structural anomaly of the kidney. tmpxe7fu0cj_hp_relaxed.owl Kidney malformation|Abnormally shaped kidney|Renal malformation|Structural kidney abnormalities|Kidney structure issue|Structural anomalies of the renal tract|Abnormal kidney morphology|Structural renal anomalies UMLS:C0266292|SNOMEDCT_US:44513007|Fyler:4512 peter 2013-03-14T07:41:11Z HP:0004735|HP:0000792|HP:0004726|HP:0008712 human_phenotype owl:Class HP:0033756 biolink:NamedThing Decreased left ventricular end-diastolic volume Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole). tmpxe7fu0cj_hp_relaxed.owl 2021-04-22 19:23:12+00:00 peter owl:Class HP:0033754 biolink:NamedThing Abnormal left ventricular end-diastolic volume Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole). tmpxe7fu0cj_hp_relaxed.owl 2021-04-22 19:06:04+00:00 peter owl:Class HP:0040095 biolink:NamedThing Neoplasm of the outer ear A tumor (abnormal growth of tissue) of the outer ear. tmpxe7fu0cj_hp_relaxed.owl Outer ear tumor|Outer ear tumour UMLS:C4022443|NCIT:C3262 HPO:skoehler owl:Class UBERON:0011628 biolink:NamedThing early premaxilla tmpxe7fu0cj_hp_relaxed.owl future premaxilla EHDAA2:0001495 uberon owl:Class UBERON:0008907 biolink:NamedThing dermal bone Skeletal element that forms superficially in the organism, usually in association with the ectoderm[VSAO]. tmpxe7fu0cj_hp_relaxed.owl dermal bones AAO:0010769|Wikipedia:Dermal_bone|XAO:0004015|ZFA:0001590|VSAO:0000130|TAO:0001590 uberon owl:Class Intramembranous bone that forms superficially in the organism.[TAO] other AOs are not yet in sync with this classification HP:0003216 biolink:NamedThing Generalized amyloid deposition A diffuse form of amyloidosis. tmpxe7fu0cj_hp_relaxed.owl Generalised amyloid deposition UMLS:C1862968 According to MeSH (D000682), Amyloid is fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of amyloid plaques are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease. human_phenotype owl:Class GO:0061053 biolink:NamedThing somite development The progression of a somite from its initial formation to the mature structure. Somites are mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo. tmpxe7fu0cj_hp_relaxed.owl dph 2010-03-02T12:05:13Z biological_process owl:Class UBERON:0005106 biolink:NamedThing metanephric tubule A metanephric tubule is an epithelial tube that is part of the metanephros[GO]. tmpxe7fu0cj_hp_relaxed.owl VHOG:0001526 uberon owl:Class The ureteric diverticulum grows dorsally into the posterior region of the nephric ridge. Here it enlarges and stimulates the growth of metanephric tubules that come to make up the metanephric kidney. The metanephros becomes the adult kidney of amniotes.[well established][VHOG] UBERON:0005108 biolink:NamedThing metanephric epithelium An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0003424 biolink:NamedThing mesenchyme of hard palate Mesenchyme that is part of a developing hard palate [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hard palate mesenchyme EMAPA:18954 uberon owl:Class HP:0001009 biolink:NamedThing Telangiectasia Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. tmpxe7fu0cj_hp_relaxed.owl Telangiectases|Cutaneous telangiectasia|Spider veins SNOMEDCT_US:247479008|UMLS:C1138421|MSH:D013684|UMLS:C0039446|SNOMEDCT_US:112641009 HP:0001079 human_phenotype owl:Class HP:0011276 biolink:NamedThing Vascular skin abnormality tmpxe7fu0cj_hp_relaxed.owl Vascular abnormalities restricted to skin|Skin vascular malformation MSH:D017445|UMLS:C0162819|SNOMEDCT_US:11263005|UMLS:C1842892 peter 2011-12-29T08:52:53Z owl:Class CHEBI:24834 biolink:NamedThing inorganic anion tmpxe7fu0cj_hp_relaxed.owl inorganic anions chebi_ontology owl:Class HP:0010316 biolink:NamedThing Ebstein anomaly of the tricuspid valve Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. tmpxe7fu0cj_hp_relaxed.owl Ebstein's anomaly|Ebstein's malformation|Ebstein's anomaly of the tricuspid valve ICD-10:Q22.5|SNOMEDCT_US:204357006|MSH:D004437|EPCC:06.01.34|UMLS:C0013481 Ebstein's anomaly is often associated with a hypoplastic right ventricle, patent foramen ovale, and a degree of cyanosis dependent on the amount if inadequacy of the tricuspid valve. Ebstein's anomaly may be associated with Wolf-Parkinson-White syndrome or other arrythmias. peter 2009-07-14T11:12:07Z HP:0006674 human_phenotype owl:Class GO:0033030 biolink:NamedThing negative regulation of neutrophil apoptotic process Any process that stops, prevents, or reduces the frequency, rate, or extent of neutrophil apoptotic process. tmpxe7fu0cj_hp_relaxed.owl downregulation of neutrophil apoptosis|inhibition of neutrophil apoptosis|down-regulation of neutrophil apoptosis|negative regulation of neutrophil apoptosis|down regulation of neutrophil apoptosis biological_process owl:Class GO:0001911 biolink:NamedThing negative regulation of leukocyte mediated cytotoxicity Any process that stops, prevents, or reduces the rate of leukocyte mediated cytotoxicity. tmpxe7fu0cj_hp_relaxed.owl negative regulation of leucocyte mediated cytotoxicity|negative regulation of immune cell mediated cytotoxicity|downregulation of leukocyte mediated cytotoxicity|down regulation of leukocyte mediated cytotoxicity|inhibition of leukocyte mediated cytotoxicity|down-regulation of leukocyte mediated cytotoxicity biological_process owl:Class GO:0031943 biolink:NamedThing regulation of glucocorticoid metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0003341 biolink:NamedThing Subepidermal blistering with cleavage in the lamina lucida The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. tmpxe7fu0cj_hp_relaxed.owl Subepidermal blistering with cleavage in the lamina lucida|Blistering with junctional split|Junctional split UMLS:C4021730 owl:Class HP:0033804 biolink:NamedThing Subepidermal blistering A type of blistering in which the lesions are located beneath the epidermis. tmpxe7fu0cj_hp_relaxed.owl 2021-05-08 15:09:28+00:00 peter owl:Class HP:0012830 biolink:NamedThing Position The anatomical localization of the specified phenotypic abnormality. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4019252 peter 2014-06-06T07:18:35Z human_phenotype owl:Class CHEBI:138103 biolink:NamedThing inorganic acid A Bronsted acid derived from one or more inorganic compounds. Inorganic acids (also known as mineral acids) form hydrons and conjugate base ions when dissolved in water. tmpxe7fu0cj_hp_relaxed.owl mineral acids|mineral acid|inorganic acids Wikipedia:Mineral_acid chebi_ontology owl:Class CHEBI:39141 biolink:NamedThing Bronsted acid A molecular entity capable of donating a hydron to an acceptor (Bronsted base). tmpxe7fu0cj_hp_relaxed.owl Bronsted acid|hydron donor|donneur d'hydron|acide de Bronsted|Bronsted-Saeure chebi_ontology owl:Class HP:0004523 biolink:NamedThing Long eyebrows Increased length of the hairs of the eyebrows. tmpxe7fu0cj_hp_relaxed.owl Long eyebrows|Elongated eyebrow|Increased horizontal length of eyebrow|Increased transverse length of eyebrow UMLS:C3280131 human_phenotype owl:Class HP:0033129 biolink:NamedThing Abnormal shoulder physiology Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm. tmpxe7fu0cj_hp_relaxed.owl 2020-09-05 13:42:07+00:00 peter owl:Class NBO:0000620 biolink:NamedThing frustration behavior "An emotional behavior that arises from the perceived resistance to the fulfillment of individual will." [wikipedia:Frustration] tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T05:00:59Z George Gkoutos behavior_ontology owl:Class NBO:0000003 biolink:NamedThing emotional behavior "Behavior related to the complex psychophysiological experience of an individual's state of mind as interacting with biochemical (internal) and environmental (external) influences." [wikipedia:Emotions] tmpxe7fu0cj_hp_relaxed.owl affective behaviour|mood 2011-04-14T01:03:39Z George Gkoutos behavior_ontology owl:Class UBERON:0014765 biolink:NamedThing crus of diaphragm The domain of the diaphragm that is located dorsally and attaches to the vertebrae and surrounds the esophagus and aorta. tmpxe7fu0cj_hp_relaxed.owl diaphragm crura|crura of the diaphragm|crural diaphragm|diaphragmatic crura|crus of the diaphragm EMAPA:17703|EHDAA2:0000597|VHOG:0001546 Classification notes: May be considered an external sphincter[PMID:8224664] uberon owl:Class CHEBI:35584 biolink:NamedThing purine A heterobicyclic aromatic organic compound comprising a pyrimidine ring fused to an imidazole ring; the parent compound of the purines. tmpxe7fu0cj_hp_relaxed.owl purine 0 C5H4N4 120.112 120.04360 PMID:12865945|HMDB:HMDB0001366|MetaCyc:PURINE|PMID:24088627|KEGG:C15587 chebi_ontology owl:Class CHEBI:35570 biolink:NamedThing mancude organic heterobicyclic parent tmpxe7fu0cj_hp_relaxed.owl mancude organic heterobicyclic parents|mancude-ring organic heterobicyclic parents chebi_ontology owl:Class HP:0011193 biolink:NamedThing EEG with focal spikes EEG with focal sharp transient waves of a duration less than 80 msec. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023481 hecht 2011-11-19T10:50:36Z human_phenotype owl:Class GO:1903020 biolink:NamedThing positive regulation of glycoprotein metabolic process Any process that activates or increases the frequency, rate or extent of glycoprotein metabolic process. tmpxe7fu0cj_hp_relaxed.owl upregulation of glycoprotein metabolic process|up regulation of glycoprotein metabolic process|up regulation of glycoprotein metabolism|activation of glycoprotein metabolism|up-regulation of glycoprotein metabolic process|upregulation of glycoprotein metabolism|activation of glycoprotein metabolic process|up-regulation of glycoprotein metabolism|positive regulation of glycoprotein metabolism human serum amyloid P component (SAP) P02743 inhibits viral neuraminidase, NA (exo-alpha-sialidase activity) and thus the metabolism of glycoproteins, demonstrated in Figure 4A PMID:23544079, (IDA), the negative regulation term would be applied to this protein rl 2014-05-14T18:44:31Z biological_process owl:Class GO:1903018 biolink:NamedThing regulation of glycoprotein metabolic process Any process that modulates the frequency, rate or extent of glycoprotein metabolic process. tmpxe7fu0cj_hp_relaxed.owl regulation of glycoprotein metabolism human serum amyloid P component (SAP) P02743 inhibits viral neuraminidase, NA (exo-alpha-sialidase activity) and thus the metabolism of glycoproteins, demonstrated in Figure 4A PMID:23544079, (IDA), the negative regulation term would be applied to this protein rl 2014-05-14T18:44:19Z biological_process owl:Class GO:1903035 biolink:NamedThing negative regulation of response to wounding Any process that stops, prevents or reduces the frequency, rate or extent of response to wounding. tmpxe7fu0cj_hp_relaxed.owl inhibition of response to wounding|downregulation of response to wounding|down regulation of physiological response to wounding|down regulation of response to wounding|downregulation of physiological response to wounding|down-regulation of response to wounding|negative regulation of physiological response to wounding|down-regulation of physiological response to wounding|inhibition of physiological response to wounding kmv 2014-05-18T01:28:52Z biological_process owl:Class GO:1903034 biolink:NamedThing regulation of response to wounding Any process that modulates the frequency, rate or extent of response to wounding. tmpxe7fu0cj_hp_relaxed.owl regulation of physiological response to wounding kmv 2014-05-18T01:28:46Z biological_process owl:Class NBO:0000767 biolink:NamedThing memory behavior phenotype "Observable characteristic of behaviour related to the ability of an organism's ability to store, retain, and recall information and experiences." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2012-03-19T02:34:26Z gkoutos behavior_ontology owl:Class NBO:0000765 biolink:NamedThing learning and/or memory behavior phenotype "Observable characteristic of behaviour related to the acquisition and processing of information and/or the storage and retrieval of this information over time." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2012-03-19T02:33:56Z gkoutos behavior_ontology owl:Class GO:0048934 biolink:NamedThing peripheral nervous system neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron whose cell body resides in the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0030182 biolink:NamedThing neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0004323 biolink:NamedThing middle phalanx of manual digit 5 A middle phalanx that is part of a hand digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl fifth finger middle phalanx|hand digit 5 intermediate phalanx|middle phalanx of manual digit V|intermediate phalanx of hand digit 5|intermediate phalanx of fifth finger|5th finger intermediate phalanx|5th finger middle phalanx|5th digit of hand middle phalanx|middle phalanx of fifth finger|hand digit 5 middle phalanx|intermediate phalanx of 5th digit of hand|fifth middle phalanx of hand|middle phalanx of little finger|5th digit of hand intermediate phalanx|middle phalanx of fifth digit of hand|middle phalanx of 5th finger|intermediate phalanx of 5th finger|middle phalanx of 5th digit of hand|fifth finger intermediate phalanx FMA:23936 uberon owl:Class UBERON:0003639 biolink:NamedThing manual digit 5 phalanx A phalanx that is part of a hand digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl long bone of digit of hand digit 5|digit long bone of hand digit 5|hand digit 5 long bone of digit|little finger phalanx|phalanx of 5 th finger|phalanx of hand digit 5|manual digit V phalanx|phalanx of 5 th digit of hand|long bone of digit of 5 th digit of hand|phalanx of fifth digit of hand|digit long bone of 5 th finger|5 th finger long bone of digit|phalanx of manual digitus minimus|fifth finger digit long bone|5 th digit of hand digit long bone|fifth finger long bone of digit|fifth finger phalanx|phalanx of fifth finger|digit long bone of 5 th digit of hand|digit long bone of fifth finger|5 th digit of hand long bone of digit|phalanx of little finger|fore limb digit 5 phalanx|5 th finger phalanx|long bone of digit of 5 th finger|5 th digit of hand phalanx|hand digit 5 digit long bone|hand digit 5 phalanx|phalanx of 5th finger|5 th finger digit long bone|long bone of digit of fifth finger MA:0001393|UMLS:C1708317|EMAPA:19121|FMA:35489|NCIT:C52773 uberon owl:Class HP:0009751 biolink:NamedThing Aplasia of the pectoralis major muscle Absence of the pectoralis major muscle. tmpxe7fu0cj_hp_relaxed.owl Absent pectoralis major muscle UMLS:C4024213 peter 2009-01-31T05:18:55Z human_phenotype owl:Class HP:0100854 biolink:NamedThing Aplasia of the musculature Absence of the musculature. tmpxe7fu0cj_hp_relaxed.owl Absent musculature UMLS:C4021955 doelkens 2011-11-30T09:51:08Z human_phenotype owl:Class HP:0000205 biolink:NamedThing Pursed lips An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. tmpxe7fu0cj_hp_relaxed.owl Pursed lips|Tightly closed lips UMLS:C1832130 human_phenotype owl:Class HP:0011338 biolink:NamedThing Abnormality of mouth shape An abnormality of the outline, configuration, or contour of the mouth. tmpxe7fu0cj_hp_relaxed.owl Abnormality of mouth shape|Anomaly of mouth shape|Unusual mouth shape UMLS:C4023407|Fyler:4874 peter 2012-02-26T01:05:23Z human_phenotype owl:Class HP:0003336 biolink:NamedThing Abnormal enchondral ossification An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025628 This term is intended to describe histological abnormalities of enchondral ossification observed upon bone biopsy. HP:0003331 human_phenotype owl:Class HP:0011849 biolink:NamedThing Abnormal bone ossification Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpxe7fu0cj_hp_relaxed.owl Abnormal bone maturation MP:0008271|UMLS:C4023161|UMLS:C4280317 All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification. peter 2012-05-15T07:39:58Z human_phenotype owl:Class GO:0015850 biolink:NamedThing organic hydroxy compound transport The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. tmpxe7fu0cj_hp_relaxed.owl organic alcohol transport biological_process owl:Class UBERON:0003541 biolink:NamedThing left lung terminal bronchiole A terminal bronchiole that is part of a left lung [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl left lung bronchiolus terminalis|terminal bronchiole of left lung|bronchiolus terminalis of left lung EMAPA:36636|NCIT:C49255|MA:0001780|UMLS:C1708675 uberon owl:Class UBERON:0003539 biolink:NamedThing left lung bronchiole A bronchiole that is part of a left lung [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl left lung lobular bronchiole|bronchiole of left lung|lobular bronchiole of left lung UMLS:C0225674|EMAPA:19000|MA:0001778|NCIT:C49252 uberon owl:Class GO:1904651 biolink:NamedThing positive regulation of fat cell apoptotic process Any process that activates or increases the frequency, rate or extent of fat cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of fat cell apoptosis|up-regulation of adipocyte apoptosis|up regulation of adipocyte apoptosis|upregulation of fat cell apoptotic process|positive regulation of adipocyte apoptotic process|positive regulation of adipose cell apoptotic process|activation of adipose cell apoptotic process|activation of fat cell apoptotic process|upregulation of adipocyte apoptosis|upregulation of adipose cell apoptosis|up regulation of fat cell apoptosis|activation of adipose cell apoptosis|up regulation of adipose cell apoptotic process|up-regulation of fat cell apoptotic process|upregulation of adipose cell apoptotic process|upregulation of adipocyte apoptotic process|up-regulation of adipocyte apoptotic process|up-regulation of adipose cell apoptosis|activation of adipocyte apoptosis|upregulation of fat cell apoptosis|activation of fat cell apoptosis|up-regulation of adipose cell apoptotic process|up regulation of adipocyte apoptotic process|up-regulation of fat cell apoptosis|up regulation of adipose cell apoptosis|positive regulation of adipocyte apoptosis|up regulation of fat cell apoptotic process|activation of adipocyte apoptotic process|positive regulation of adipose cell apoptosis sl 2015-08-31T20:59:40Z biological_process owl:Class GO:1904649 biolink:NamedThing regulation of fat cell apoptotic process Any process that modulates the frequency, rate or extent of fat cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of adipocyte apoptotic process|regulation of adipose cell apoptotic process|regulation of adipose cell apoptosis|regulation of adipocyte apoptosis|regulation of fat cell apoptosis sl 2015-08-31T20:59:28Z biological_process owl:Class UBERON:0013135 biolink:NamedThing interdental plate The interdental plate refers to the bone-filled mesial-distal region between the teeth. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class In paleobiology, the presence or absence of the interdental plate can determine the place of an animal in the evolutionary scale, and paleontologists use the interdental plate when trying to classify a new specimen. Thecodont reptiles and theropod dinosaur fossils have an interdental plate, whereas acrodont reptiles such as Sphenodontia do not.[3] Its presence in Archaeopteryx, an extinct avian, resulted in the proposal of the dinosaur-bird connection GO:0051905 biolink:NamedThing establishment of pigment granule localization The directed movement of a pigment granule to a specific location. tmpxe7fu0cj_hp_relaxed.owl establishment of pigment granule localisation biological_process owl:Class GO:0051650 biolink:NamedThing establishment of vesicle localization The directed movement of a vesicle to a specific location. tmpxe7fu0cj_hp_relaxed.owl establishment of vesicle localisation biological_process owl:Class GO:1905504 biolink:NamedThing negative regulation of motile cilium assembly Any process that stops, prevents or reduces the frequency, rate or extent of motile cilium assembly. tmpxe7fu0cj_hp_relaxed.owl downregulation of motile primary cilium formation|down-regulation of motile primary cilia formation|downregulation of nodal cilium formation|down-regulation of nodal cilium formation|down regulation of nodal cilium formation|down-regulation of motile primary cilia assembly|down regulation of motile primary cilium formation|down-regulation of motile primary cilium formation|downregulation of motile primary cilia formation|inhibition of motile primary cilia assembly|down-regulation of nodal cilium assembly|downregulation of motile primary cilia assembly|negative regulation of motile primary cilia formation|down-regulation of motile primary cilium assembly|negative regulation of motile primary cilium formation|down regulation of motile primary cilia assembly|down regulation of nodal cilium assembly|negative regulation of motile primary cilium assembly|down regulation of motile primary cilia formation|inhibition of motile primary cilium assembly|negative regulation of nodal cilium formation|downregulation of motile primary cilium assembly|negative regulation of nodal cilium assembly|down regulation of motile primary cilium assembly|downregulation of nodal cilium assembly|inhibition of motile primary cilia formation|inhibition of nodal cilium assembly|negative regulation of motile primary cilia assembly|inhibition of motile primary cilium formation|inhibition of nodal cilium formation krc 2016-09-27T18:27:55Z biological_process owl:Class CL:0000215 biolink:NamedThing barrier cell A cell whose primary function is to prevent the transport of stuff across compartments. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0005528 biolink:NamedThing Bone marrow hypocellularity A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. tmpxe7fu0cj_hp_relaxed.owl Bone marrow hypoplasia|Hypoplastic bone marrow|Bone marrow failure UMLS:C1855710 HP:0005529|HP:0100549 human_phenotype owl:Class HP:0012145 biolink:NamedThing Abnormality of multiple cell lineages in the bone marrow tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023024 peter 2012-09-16T08:21:57Z human_phenotype owl:Class HP:0005772 biolink:NamedThing Aplasia/Hypoplasia of the tibia Absence or underdevelopment of the tibia. tmpxe7fu0cj_hp_relaxed.owl Aplastic/hypoplastic tibia|Absent/underdeveloped shinbone|Absent/small shankbone|Absent/hypoplastic tibia|Absent/underdeveloped shankbone|Absent/small shinbone UMLS:C1969181 human_phenotype owl:Class HP:0040144 biolink:NamedThing L-2-hydroxyglutaric aciduria An increase in the level of L-2-hydroxyglutaric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855995|SNOMEDCT_US:237961001 HPO:skoehler owl:Class HP:0032278 biolink:NamedThing 2-hydroxyglutarate aciduria An increase in the level of 2-hydroxyglutaric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 21:55:32+00:00 2-hydroxyglutaric aciduria can cause causes progressive cerebral damage. peter owl:Class HP:0009494 biolink:NamedThing Ivory epiphyses of the 2nd finger Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the index finger bone UMLS:C4024331 doelkens 2009-01-16T01:07:16Z human_phenotype owl:Class UBERON:0002301 biolink:NamedThing layer of neocortex One of the layers of the neocortex. These layers are defined by distinctive populations of cells based on somata size, shape, or density, that are aligned into sheets. tmpxe7fu0cj_hp_relaxed.owl cortical layer|layer of neocortex|lamina of neocortex|neocortex layer|cerebral cortex layer EMAPA:35588|ABA:CTX1-6b|FMA:83138|MA:0000186 uberon owl:Class UBERON:0022303 biolink:NamedThing nervous system cell part layer Single layer of a laminar structure, identified by different density, arrangement or size of cells and processes arranged in flattened layers or lamina[CUMBO]. tmpxe7fu0cj_hp_relaxed.owl lamina|layer NLX:149357 this is currently used to group some cellular layers that may not strictly conform to the CARO definition of cell-part layer. Consider genericisizing and introducing subtypes for cellular layer, fibrous layer and cell soma layer uberon owl:Class GO:1901247 biolink:NamedThing negative regulation of lung ciliated cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of lung ciliated cell differentiation. tmpxe7fu0cj_hp_relaxed.owl inhibition of lung ciliated cell differentiation|downregulation of lung ciliated cell differentiation|down-regulation of lung ciliated cell differentiation|down regulation of lung ciliated cell differentiation vk 2012-08-08T08:58:58Z biological_process owl:Class GO:0030857 biolink:NamedThing negative regulation of epithelial cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation. tmpxe7fu0cj_hp_relaxed.owl downregulation of epithelial cell differentiation|down regulation of epithelial cell differentiation|down-regulation of epithelial cell differentiation|inhibition of epithelial cell differentiation biological_process owl:Class HP:0004220 biolink:NamedThing Short middle phalanx of the 5th finger Hypoplastic/small middle phalanx of the fifth finger. tmpxe7fu0cj_hp_relaxed.owl Fifth finger mid-phalanx hypoplasia|Short middle bone of the pinky finger|Hypoplastic/small middle phalanx of the 5th finger|Brachymesophalangy V (finger)|Short middle bone of the little finger|Short middle phalanx of the little finger|Hypoplastic/small middle phalanx of the little finger|5th finger middle phalangeal hypoplasia|Hypoplastic middle phalanx of the 5th finger|Short middle bone of the pinkie finger|Type A3 brachydactyly|Hypoplastic fifth finger middle phalanx|Brachymesophalangism V UMLS:C1834060 Brachymesophalangia-V, a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3). HP:0001243|HP:0003069|HP:0005734|HP:0005706|HP:0004221|HP:0005649|HP:0005813 owl:Class HP:0009370 biolink:NamedThing Type A brachydactyly tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024413 doelkens 2009-01-13T10:50:19Z human_phenotype owl:Class HP:0002984 biolink:NamedThing Hypoplasia of the radius Underdevelopment of the radius. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic radii|Radial hypoplasia|Radial ray hypoplasia|Underdeveloped outer large forearm bone|Shortening of radius|Short radii|Hypoplastic radius|Short radius SNOMEDCT_US:205170001|SNOMEDCT_US:93288001|UMLS:C0685381|UMLS:C1840087 HP:0006418|HP:0002995|HP:0005714|HP:0005081|HP:0004989|HP:0005014 human_phenotype owl:Class HP:0045009 biolink:NamedThing Abnormal morphology of the radius tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022401 HPO:skoehler owl:Class GO:0060051 biolink:NamedThing negative regulation of protein glycosylation Any process that stops, prevents, or reduces the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpxe7fu0cj_hp_relaxed.owl negative regulation of protein amino acid glycosylation biological_process owl:Class GO:0031400 biolink:NamedThing negative regulation of protein modification process Any process that stops, prevents, or reduces the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. tmpxe7fu0cj_hp_relaxed.owl down regulation of protein modification|downregulation of protein modification|down-regulation of protein modification|inhibition of protein modification biological_process owl:Class CHEBI:35610 biolink:NamedThing antineoplastic agent A substance that inhibits or prevents the proliferation of neoplasms. tmpxe7fu0cj_hp_relaxed.owl antineoplastic agents|cytostatic|anticancer agent|antineoplastic|anticancer agents chebi_ontology owl:Class CHEBI:23888 biolink:NamedThing drug Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances. tmpxe7fu0cj_hp_relaxed.owl drugs|medicine chebi_ontology owl:Class GO:0030317 biolink:NamedThing flagellated sperm motility tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0060294 biolink:NamedThing cilium movement involved in cell motility Movement of cilia mediated by motor proteins that contributes to the movement of a cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0098900 biolink:NamedThing regulation of action potential Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpxe7fu0cj_hp_relaxed.owl The ion channels through which current flows during an action potential should be annotated to the process 'action potential'. Gene products involved in modulating the characteristics of an action potential via changing the expression levels or the activity of these channels (e.g. modulating their kinetics or voltage sensitivity) should be annotated to this regulation term. biological_process owl:Class HP:0007814 biolink:NamedThing Retinal pigment epithelial mottling Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium. tmpxe7fu0cj_hp_relaxed.owl RPE irregularity|Retinal pigment epithelium irregularity|Focal hypopigmentation of the retinal pigment epithelium|RPE mottling|Salt and pepper retinal pigmentation|Salt and pepper retinopathy UMLS:C1857644 HP:0001124 human_phenotype owl:Class HP:0007703 biolink:NamedThing Abnormality of retinal pigmentation tmpxe7fu0cj_hp_relaxed.owl Abnormality of retinal pigment epithelium|Abnormality of the retinal pigment epithelium|Abnormal retinal pigmentation|Abnormality of RPE|Retinal pigmentary anomaly SNOMEDCT_US:421689001|UMLS:C1720508|UMLS:C1862475 HP:0008051|HP:0007743|HP:0007741 human_phenotype owl:Class UBERON:0001247 biolink:NamedThing falciform ligament A ligament that attaches the liver to the anterior body wall. It is a broad and thin antero-posterior peritoneal fold, falciform in shape, its base being directed downward and backward and its apex upward and backward. It is a remnant of the ventral mesentery of the fetus. It is situated in an antero-posterior plane but lies obliquely, so that one surface faces forward and is in contact with the peritoneum behind the right rectus and the diaphragm, while the other is directed backward and is in contact with the left lobe of the liver. It is attached by its left margin to the under surface of the diaphragm and the posterior surface of the sheath of the right Rectus as low down as the umbilicus; by its right margin it extends from the notch on the anterior margin of the liver, as far back as the posterior surface. It is composed of two layers of peritoneum closely united together. Its base or free edge contains between its layers the round ligament and the paraumbilical veins[WP]. tmpxe7fu0cj_hp_relaxed.owl ligamentum falciforme hepatis|falciform ligament of liver|ligamentum falciforme (hepatis) EMAPA:18288|EHDAA2:0000499|UMLS:C0230240|VHOG:0000355|MA:0001622|NCIT:C32582|FMA:15823|EHDAA:4856 uberon owl:Class in FMA this is a subclass of mesentery. In MA it is a subclass of ligament, we infer and assert this is a nonskeletal ligament UBERON:0009567 biolink:NamedThing nail of pedal digit A nail that is part of a pedal digit. tmpxe7fu0cj_hp_relaxed.owl claw of toe|claw of pes|hindlimb digit claw|nail plate of toe|toe nail|toenail|hindlimb claw|nail of toe|claw of foot|pedal claw|nail of pes EMAPA:36457|UMLS:C0222007|NCIT:C33790|FMA:54328|XAO:0003103 uberon owl:Class UBERON:0002726 biolink:NamedThing cervical spinal cord A spinal cord segment that adjacent_to a cervical region. tmpxe7fu0cj_hp_relaxed.owl pars cervicalis medullae spinalis|cervical segments of spinal cord [1-8]|segmenta cervicalia medullae spinalis [1-8|cervical spinal cord|cervical segment of spinal cord UMLS:C0581619|UMLS:C1278837|NCIT:C12892|BIRNLEX:1499|MA:0003081|FMA:71166|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1654|SCTID:180960003 uberon owl:Class GO:0014037 biolink:NamedThing Schwann cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a Schwann cell. Schwann cells are found in the peripheral nervous system, where they insulate neurons and axons, and regulate the environment in which neurons function. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0010001 biolink:NamedThing glial cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a glial cell. tmpxe7fu0cj_hp_relaxed.owl glia cell differentiation|neuroglia differentiation GO:0007404|GO:0043360 biological_process owl:Class GO:0045745 biolink:NamedThing positive regulation of G protein-coupled receptor signaling pathway Any process that activates or increases the frequency, rate or extent of G protein-coupled receptor signaling pathway activity. tmpxe7fu0cj_hp_relaxed.owl positive regulation of G protein coupled receptor protein signalling pathway|up-regulation of G-protein coupled receptor protein signaling pathway|positive regulation of GPCR protein signalling pathway|positive regulation of G-protein-coupled receptor protein signalling pathway|positive regulation of G-protein-coupled receptor protein signaling pathway|positive regulation of G protein coupled receptor protein signaling pathway|upregulation of G-protein coupled receptor protein signaling pathway|up regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|positive regulation of GPCR protein signaling pathway|positive regulation of G-protein coupled receptor protein signalling pathway|stimulation of G-protein coupled receptor protein signaling pathway|activation of G-protein coupled receptor protein signaling pathway biological_process owl:Class HP:0010698 biolink:NamedThing Nuclear pulverulent cataract A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus. tmpxe7fu0cj_hp_relaxed.owl Central pulverulent cataract|Pulverulent nuclear cataract|cataracta pulverulenta centralis|Coppock-like cataract UMLS:C4021237 peter 2010-03-20T02:53:02Z human_phenotype owl:Class HP:0010925 biolink:NamedThing Nuclear punctate cataract tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023649 peter 2010-12-12T04:26:25Z human_phenotype owl:Class HP:0002999 biolink:NamedThing Patellar dislocation The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. tmpxe7fu0cj_hp_relaxed.owl Dislocated patellae|Dislocation of patella|Dislocated kneecap MSH:D031222|SNOMEDCT_US:263029007|UMLS:C1135812 human_phenotype owl:Class HP:0030311 biolink:NamedThing Lower extremity joint dislocation Displacement or malalignment of one or more joints in the lower extremity (leg). tmpxe7fu0cj_hp_relaxed.owl Dislocated leg joints UMLS:C4022516 owl:Class CHEBI:59814 biolink:NamedThing L-alpha-amino acid anion Conjugate base of an L-alpha-amino acid arising from deprotonation of the C-1 carboxy group. tmpxe7fu0cj_hp_relaxed.owl L-alpha-amino carboxylate -1 C2H3NO2R 73.051 73.01638 [C@H](C(=O)[O-])(N)* chebi_ontology owl:Class CHEBI:33558 biolink:NamedThing alpha-amino-acid anion An amino-acid anion obtained by deprotonation of any alpha-amino acid. tmpxe7fu0cj_hp_relaxed.owl alpha-amino-acid anion|alpha-amino acid anions|alpha-amino-acid anions chebi_ontology owl:Class UBERON:0004790 biolink:NamedThing skin mucous gland A mucous gland that is part of the skin. tmpxe7fu0cj_hp_relaxed.owl mucous gland of skin of body|skin of body mucous gland|mucous gland of entire skin|skin mucus gland EMAPA:35775|MA:0000148 See comments for 'skin mucus' uberon owl:Class HP:0040225 biolink:NamedThing Decrease in high molecular weight von Willebrand factor Multimers A decrease in high molecular weight von Willebrand factor multimers. tmpxe7fu0cj_hp_relaxed.owl Decrease in HMW VWF multimers UMLS:C4280718 Requested and created by members of the BRIDGE consortium. owl:Class HP:0030131 biolink:NamedThing Abnormal von Willebrand factor multimer distribution Deviation from the normal von Willebrand factor multimer pattern. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022617 owl:Class HP:0100566 biolink:NamedThing Amyelia Congenital absence of the spinal cord. tmpxe7fu0cj_hp_relaxed.owl Absent spinal cord UMLS:C0266510|SNOMEDCT_US:78784005 doelkens 2010-12-21T04:41:35Z human_phenotype owl:Class GO:0001696 biolink:NamedThing gastric acid secretion The regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpxe7fu0cj_hp_relaxed.owl hydrochloric acid secretion biological_process owl:Class GO:0022600 biolink:NamedThing digestive system process A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0006511 biolink:NamedThing Laryngeal stridor An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat. tmpxe7fu0cj_hp_relaxed.owl Laryngeal stidor UMLS:C0023066|SNOMEDCT_US:41432000|MSH:D007826|SNOMEDCT_US:406444002|SNOMEDCT_US:53787002 The laryngeal stridor sound is usually heard during inspiratory phase, also called inspiratory stridor, and may accompanied by inspiratory difficulty in breathing. It may be due to abnormal flaccidity of the epiglottis or arytenoids. human_phenotype owl:Class HP:0025424 biolink:NamedThing Abnormal larynx physiology Any anomaly of the function of the larynx. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 12:46:36+00:00 HPO:probinson owl:Class HP:0033692 biolink:NamedThing Declarative memory loss Impaired ability to remember facts and events. tmpxe7fu0cj_hp_relaxed.owl Impaired declarative memory 2021-03-07 22:56:17+00:00 peter owl:Class HP:0033690 biolink:NamedThing Retrograde memory impairment Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia. tmpxe7fu0cj_hp_relaxed.owl Retrograde amnesia 2021-03-07 22:53:43+00:00 peter owl:Class GO:0005996 biolink:NamedThing monosaccharide metabolic process The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. tmpxe7fu0cj_hp_relaxed.owl monosaccharide metabolism biological_process owl:Class HP:0005787 biolink:NamedThing Lumbar platyspondyly A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025136 HP:0004588 human_phenotype owl:Class HP:0000926 biolink:NamedThing Platyspondyly A flattened vertebral body shape with reduced distance between the vertebral endplates. tmpxe7fu0cj_hp_relaxed.owl Flattened vertebrae|Flat vertebral bodies|Flattened vertebral bodies UMLS:C1844704 HP:0005644|HP:0005123|HP:0003421|HP:0004627|HP:0008466|HP:0004595|HP:0004623|HP:0002940 human_phenotype owl:Class HP:0007935 biolink:NamedThing Juvenile posterior subcapsular lenticular opacities tmpxe7fu0cj_hp_relaxed.owl UMLS:C1863408 human_phenotype owl:Class HP:0007787 biolink:NamedThing Posterior subcapsular cataract A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. tmpxe7fu0cj_hp_relaxed.owl Posterior subcapsular opacities of the lens|Posterior subcapsular cataracts UMLS:C0858617|SNOMEDCT_US:315353005 HP:0007666|HP:0007857 human_phenotype owl:Class GO:0051303 biolink:NamedThing establishment of chromosome localization The directed movement of a chromosome to a specific location. tmpxe7fu0cj_hp_relaxed.owl chromosome positioning|establishment of chromosome localisation biological_process owl:Class GO:0051234 biolink:NamedThing establishment of localization Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. tmpxe7fu0cj_hp_relaxed.owl establishment of localisation biological_process owl:Class HP:0041164 biolink:NamedThing Fractured talus A partial or complete breakage of the talus. tmpxe7fu0cj_hp_relaxed.owl bone talus owl:Class HP:0041247 biolink:NamedThing Fractured tarsal bone A partial or complete breakage of the tarsal bone. tmpxe7fu0cj_hp_relaxed.owl bone tarsal bone owl:Class HP:0033989 biolink:NamedThing Hippocampal microinfarct An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically. tmpxe7fu0cj_hp_relaxed.owl 2021-08-18 12:19:23+00:00 peter owl:Class HP:0025100 biolink:NamedThing Abnormal hippocampus morphology Any structural anomaly of the hippocampus, tmpxe7fu0cj_hp_relaxed.owl Abnormal morphology of the hippocampus|Abnormality of hippocampus morphology 2016-10-28 07:12:41+00:00 The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. HPO:probinson owl:Class HP:0100337 biolink:NamedThing Bilateral cleft palate Nonmidline cleft palate on the left and right sides. tmpxe7fu0cj_hp_relaxed.owl Bilateral palatoschisis|Right and left cleft palate UMLS:C3553084 doelkens 2010-10-13T04:16:32Z human_phenotype owl:Class HP:0100338 biolink:NamedThing Non-midline cleft palate tmpxe7fu0cj_hp_relaxed.owl Paramedian cleft palate UMLS:C4022142 doelkens 2010-10-13T04:16:40Z human_phenotype owl:Class HP:0009469 biolink:NamedThing Contracture of the distal interphalangeal joint of the 3rd finger Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. tmpxe7fu0cj_hp_relaxed.owl Contracture of the outermost hinge joint of the 3rd finger UMLS:C4024344 doelkens 2009-01-15T09:50:20Z human_phenotype owl:Class UBERON:0010338 biolink:NamedThing 1st arch maxillary mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 1st arch maxillary mesenchyme. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000043 uberon owl:Class UBERON:0007524 biolink:NamedThing dense mesenchyme tissue Mesenchyme with little extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0003146|AEO:0000146 EHDAA2:0003146 uberon owl:Class HP:0003639 biolink:NamedThing Elevated urinary epinephrine An increased concentration of adrenaline in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urinary epinephrine UMLS:C1868393 human_phenotype owl:Class GO:0043264 biolink:NamedThing extracellular non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring outside the cell. tmpxe7fu0cj_hp_relaxed.owl extracellular non-membrane-enclosed organelle cellular_component owl:Class GO:0043230 biolink:NamedThing extracellular organelle Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class UBERON:0004335 biolink:NamedThing proximal phalanx of pedal digit 4 A proximal phalanx that is part of a pedal digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal phalanx of 4th toe|proximal phalanx of pedal digit IV|proximal phalanx of foot digit 4|proximal phalanx of the 4th toe|predal digit 4 proximal phalanx|pedal phalanx IV-1|proximal phalanx of fourth digit of foot|proximal phalanx of fourth toe|fourth proximal phalanx of foot|foot digit 4 proximal phalanx|4th toe proximal phalanx FMA:32620 uberon owl:Class UBERON:0003868 biolink:NamedThing proximal phalanx of pes A proximal phalanx that is part of a pedal digit [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl foot proximal phalanx|proximal phalanx of pes|proximal phalanx of hind digit|proximal phalanx of foot digit|phalanx proximalis pedis|proximal phalanx of toe|proximal pedal phalanx|proximal phalanx of foot UMLS:C0224020|NCIT:C52785|EMAPA:37312|MA:0001387|FMA:75828 uberon owl:Class HP:0005009 biolink:NamedThing Dumbbell-shaped humerus The humerus is shortened and displays flaring (widening) of the metaphyses. tmpxe7fu0cj_hp_relaxed.owl Dumbbell-shaped long bone in upper arm UMLS:C4025259 human_phenotype owl:Class HP:0000947 biolink:NamedThing Dumbbell-shaped long bone An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. tmpxe7fu0cj_hp_relaxed.owl Dumbbell-shaped long bone|Dumbbell widening of long bone metaphyses UMLS:C2749582 HP:0005075|HP:0005071|HP:0005061 human_phenotype owl:Class CL:0000235 biolink:NamedThing macrophage A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. tmpxe7fu0cj_hp_relaxed.owl histiocyte FMA:63261|FMA:83585|BTO:0000801|CALOHA:TS-0587 Morphology: Diameter 30_M-80 _M, abundant cytoplasm, low N/C ratio, eccentric nucleus. Irregular shape with pseudopods, highly adhesive. Contain vacuoles and phagosomes, may contain azurophilic granules; markers: Mouse & Human: CD68, in most cases CD11b. Mouse: in most cases F4/80+; role or process: immune, antigen presentation, & tissue remodelling; lineage: hematopoietic, myeloid. cell owl:Class UBERON:0008998 biolink:NamedThing vasculature of brain System pertaining to blood vessels in the brain. tmpxe7fu0cj_hp_relaxed.owl brain vasculature|cerebrovascular system|intracerebral vasculature FMA:242007|EMAPA:35186|BTO:0003840|ZFA:0000099|TAO:0000099|EFO:0003491|SCTID:362029003|FMA:61935 UBERON:0005284 uberon owl:Class UBERON:0036303 biolink:NamedThing vasculature of central nervous system tmpxe7fu0cj_hp_relaxed.owl FMA:259905 uberon owl:Class CHEBI:84125 biolink:NamedThing globoside Gb4 A glycotetraosylceramide in which a linear beta-D-GalNAc-(1->3)-alpha-D-Gal-(1->-4)-beta-D-Gal-(1->4)-beta-D-Glc tetrasaccharide unit is linked glycosidically to a (3R,4E)-3-hydroxy-2-(pentacosanoylamino)octadec-4-en-1-yl ceramide group. tmpxe7fu0cj_hp_relaxed.owl globoside Gb4Cer(d18:1(4E)/24:1(15Z))|GalbetaNAcbeta3Galalpha4Galbeta4GlcbetaCer|(15Z)-N-[(2S,3R,4E)-1-{[2-acetamido-2-deoxy-beta-D-galactopyranosyl-(1->3)-alpha-D-galactopyranosyl-(1->4)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl]oxy}-3-hydroxyoctadec-4-en-2-yl]tetracos-15-enamide|(15Z)-N-[(2S,3R,4E)-1-{[N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl]oxy}-3-hydroxyoctadec-4-en-2-yl]tetracos-15-enamide 0 C68H124N2O23 InChI=1S/C68H124N2O23/c1-4-6-8-10-12-14-16-18-19-20-21-22-23-24-25-27-29-31-33-35-37-39-52(77)70-46(47(76)38-36-34-32-30-28-26-17-15-13-11-9-7-5-2)44-86-66-59(83)57(81)62(50(42-73)89-66)91-67-60(84)58(82)63(51(43-74)90-67)92-68-61(85)64(55(79)49(41-72)88-68)93-65-53(69-45(3)75)56(80)54(78)48(40-71)87-65/h18-19,36,38,46-51,53-68,71-74,76,78-85H,4-17,20-35,37,39-44H2,1-3H3,(H,69,75)(H,70,77)/b19-18-,38-36+/t46-,47+,48+,49+,50+,51+,53+,54-,55-,56+,57+,58+,59+,60+,61+,62+,63-,64-,65-,66+,67-,68+/m0/s1 WSOCRZVLWFROQD-NCMUZYOHSA-N 1337.71180 1336.85949 CCCCCCCCCCCCC\C=C\[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[C@@H]2O[C@H](CO)[C@H](O[C@H]3O[C@H](CO)[C@H](O)[C@H](O[C@@H]4O[C@H](CO)[C@H](O)[C@H](O)[C@H]4NC(C)=O)[C@H]3O)[C@H](O)[C@H]2O)[C@H](O)[C@H]1O)NC(=O)CCCCCCCCCCCCC\C=C/CCCCCCCC PMID:24362891 chebi_ontology owl:Class CHEBI:18259 biolink:NamedThing N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosylceramide A glycotetraosylceramide having N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucose as the tetrasaccharide component. tmpxe7fu0cj_hp_relaxed.owl Globoside GL-4|Gbose4Cer|N-acetyl-D-galactosaminyl-(1->3)-D-galactosyl-(1->4)-D-galactosyl-(1->4)-D-glucosylceramides|Gb4 Globoside|VT2vp1 Receptor|Globotetraosyl ceramide|beta-D-GalpNAc-(1->3)-alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp-(1<->1')-Cer|N-[(2S,3R,4E)-1-{[2-acetamido-2-deoxy-beta-D-galactopyranosyl-(1->3)-alpha-D-galactopyranosyl-(1->4)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl]oxy}-3-hydroxyoctadec-4-en-2-yl]alkanamide|Globoside I|GbOse4Cer|GalNAcbeta1-3-Galalpha1-4Galbeta1-4Glcbeta1-1Cer|(Gal)2 (GalNAc)1 (Glc)1 (Cer)1|Slt-iiv receptor|Gb4Cer|GalNAc-1->3-Gal-1->4-Gal-1->4-Glc-Cer|N-Acetyl-galactosaminyl-1,3-D-galactosyl-1,4-D-galactosyl-1,4-D-glucosylceramide|globoside Gb4Cer (d18:1(4E))|CTH/Gb4|beta-D-GalNAc-(1->3)-alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer|N-Acetyl-D-galactosaminyl-1,3-D-galactosyl-1,4-D-galactosyl-1,4-D-glucosylceramide|Gb4 Globotetraosyl ceramide 0 C45H79N2O23R 1016.10840 1015.50736 CCCCCCCCCCCCC\C=C\[C@@H](O)[C@H](CO[C@@H]1O[C@H](CO)[C@@H](O[C@@H]2O[C@H](CO)[C@H](O[C@H]3O[C@H](CO)[C@H](O)[C@H](O[C@@H]4O[C@H](CO)[C@H](O)[C@H](O)[C@H]4NC(C)=O)[C@H]3O)[C@H](O)[C@H]2O)[C@H](O)[C@H]1O)NC([*])=O PMID:2448252|PMID:21252262|PMID:8161226|PMID:1601891|PMID:21376640|PMID:4026313|CAS:11034-93-8|PMID:7690848|PMID:15495792|PMID:7691279|KEGG:C03272|KEGG:G00094|PMID:7287743|PMID:1724444|PMID:2456994|PMID:1528196|PMID:15661151|PMID:3220436 CHEBI:12452|CHEBI:21513|CHEBI:12557|CHEBI:5388|CHEBI:21508|CHEBI:24252 chebi_ontology owl:Class HP:0030767 biolink:NamedThing Epignathus Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0266725|SNOMEDCT_US:31248004 owl:Class HP:0100649 biolink:NamedThing Neoplasm of the oral cavity A tumor (abnormal growth of tissue) of the oral cavity. tmpxe7fu0cj_hp_relaxed.owl Tumor of oral cavity|Lesion of oral cavity|Tumour of oral cavity SNOMEDCT_US:126797001|NCIT:C3262|UMLS:C4280289|UMLS:C0026640|SNOMEDCT_US:235075007|MSH:D009062|UMLS:C0149744|SNOMEDCT_US:1071000119107 doelkens 2010-12-29T06:15:14Z human_phenotype owl:Class GO:0071754 biolink:NamedThing IgM immunoglobulin complex, circulating A polymer of five or six IgM core units each composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds; the individual IgM core units are held together via disulfide bonds with a single J chain polypeptide acting as a bridge between two of the polymeric units. Circulating IgM is present in the extracellular space, in mucosal areas or other tissues, or in the blood or lymph. tmpxe7fu0cj_hp_relaxed.owl IgM antibody Note that an IgM immunoglobulin complex has the function of antigen binding if a suitable antigen is available. mah 2010-03-24T01:44:53Z cellular_component owl:Class GO:0042571 biolink:NamedThing immunoglobulin complex, circulating An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component. tmpxe7fu0cj_hp_relaxed.owl antibody Wikipedia:Antibody Note that an immunoglobulin complex has the function of antigen binding if a suitable antigen is available. cellular_component owl:Class NBO:0000030 biolink:NamedThing hyperactivity "A kinesthetic behavior which relatively increased." [NBO:GVG] HP:0000752|MP:0001399 tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T01:09:28Z George Gkoutos behavior_ontology owl:Class HP:0410396 biolink:NamedThing Increased proportion of central memory CD8-positive, alpha-beta T cells An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0410384 biolink:NamedThing Abnormal proportion of central memory CD8-positive, alpha-beta T cells An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0000951 biolink:NamedThing rotator muscle of the vertebral column Any of a number of short transversospinal muscles chiefly developed in cervical, lumbar, and thoracic regions, arising from the transverse process of one vertebra and inserted into the root of the spinous process of the next two or three vertebrae above, with nerve supply from the dorsal branches of the spinal nerve, and whose actions rotate the vertebral column. tmpxe7fu0cj_hp_relaxed.owl rotator muscle FMA:23081 uberon owl:Class UBERON:0001646 biolink:NamedThing abducens nerve Cranial nerve that runs to the eye muscles. tmpxe7fu0cj_hp_relaxed.owl 6n|nervus abducens|abducens nerve tree|lateral rectus nerve|nerve VI|nervus abducens [VI]|sixth cranial nerve|CN-VI|abducens nerve [VI]|cranial nerve VI|abducents VI nerve|abducens VI nerve|abducens nerve/root|abducent nerve [VI]|abducent nerve BM:Pons-VIN|BIRNLEX:876|AAO:0010471|TAO:0000310|UMLS:C0000741|OpenCyc:Mx4rvjl41ZwpEbGdrcN5Y29ycA|MBA:710|EMAPA:18216|MA:0001087|FMA:50867|VHOG:0000697|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=550|NCIT:C12665|BAMS:VIn|HBA:9325|XAO:0003093|MESH:D000010|GAID:824|ZFA:0000310|EHDAA2:0000103 Abducens:nerve1.png uberon owl:Class Somatic motor nerve which bifurcates innervating m. rectus lateralis and m. retractor bulbi (eye muscles).[AAO] We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...) (reference 1); Phylogenetically, the cranial nerves are thought to have evolved from dorsal and ventral nerves of a few anterior spinal nerves that became incorporated into the braincase. Dorsal and ventral nerves fuse in the trunk but not in the head, and they produce two series: dorsal cranial nerves (V, VII, IX, and X) and ventral cranial nerves (III, IV, VI, and XIII) (reference 2).[well established][VHOG] Homologous abducens nerves are found in all vertebrates except lampreys and hagfishes.[WP] It controls the movement of a single muscle, the lateral rectus muscle of the eye, in humans. In most other mammals it also innervates the musculus retractor bulbi, which can retract the eye for protection UBERON:0015847 biolink:NamedThing upper left incisor tooth A upper jaw incisor that is in_the_left_side_of a dentition. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0001377 biolink:NamedThing Limited elbow extension Limited ability to straighten the arm at the elbow joint. tmpxe7fu0cj_hp_relaxed.owl Limited forearm extension|Elbow limited extension|Limited extension at elbows|Limitation of elbow extension|Limited elbow extension|Restricted elbow extension|Decreased elbow extension UMLS:C1867103 HP:0005073 owl:Class HP:0002996 biolink:NamedThing Limited elbow movement tmpxe7fu0cj_hp_relaxed.owl Limited elbow mobility|Restricted elbow motion|Decreased elbow mobility|Limited elbow movement UMLS:C1849955 HP:0006395 human_phenotype owl:Class GO:2000858 biolink:NamedThing regulation of aldosterone secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0000466 biolink:NamedThing immaterial anatomical entity Anatomical entity that has no mass. tmpxe7fu0cj_hp_relaxed.owl immaterial physical anatomical entity FMA:67112|TGMA:0001827|CARO:0000007|BILA:0000007|AEO:0000007|AAO:0010265|HAO:0000007|FBbt:00007015|TAO:0001835|VHOG:0001727|EHDAA2:0003007 uberon owl:Class UBERON:0001062 biolink:NamedThing anatomical entity Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. tmpxe7fu0cj_hp_relaxed.owl AAO:0010841|BIRNLEX:6|FBbt:10000000|NCIT:C12219|AEO:0000000|FMA:62955|BILA:0000000|HAO:0000000|UMLS:C1515976|EHDAA2:0002229|TGMA:0001822|CARO:0000000|XAO:0000000|ZFA:0100000|TAO:0100000|MA:0000001|WBbt:0000100 uberon owl:Class HP:0031936 biolink:NamedThing Delayed ability to walk A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. tmpxe7fu0cj_hp_relaxed.owl Delayed walking 2018-07-04 21:00:51+00:00 peter owl:Class HP:0002194 biolink:NamedThing Delayed gross motor development A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. tmpxe7fu0cj_hp_relaxed.owl Gross motor delay|Delayed motor skills|Limited gross motor development|Delayed gross motor skills|Developmental delay, gross motor UMLS:C1837658|SNOMEDCT_US:430099007 HP:0008973|HP:0006905|HP:0007046 owl:Class HP:0030619 biolink:NamedThing Reduced OCT-measured foveal thickness tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073089 owl:Class HP:0030617 biolink:NamedThing Abnormal OCT-measured foveal thickness tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073087 owl:Class UBERON:0003381 biolink:NamedThing cardiac muscle of right ventricle A portion of cardiac muscle tissue that is part of a right ventricle [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl right ventricle cardiac muscle|cardiac muscle tissue of right ventricle|right ventricular cardiac muscle tissue VHOG:0001236|FMA:83452|EMAPA:17342 uberon owl:Class UBERON:0018649 biolink:NamedThing cardiac muscle tissue of ventricle tmpxe7fu0cj_hp_relaxed.owl ventricular muscle|ventricular cardiac muscle tissue|ventricular heart muscle FMA:83450 uberon owl:Class PATO:0000069 biolink:NamedThing deviation (from_normal) A quality inhering in a bearer by virtue of the whether the bearer differs from normal or average. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0000068 biolink:NamedThing qualitative tmpxe7fu0cj_hp_relaxed.owl TODO: define this or obsolete it and move children somewhere else. quality owl:Class UBERON:0010708 biolink:NamedThing pectoral complex Appendage girdle complex that when present, encompasses the pectoral appendicular skeleton and the pectoral girdle. tmpxe7fu0cj_hp_relaxed.owl pectoral girdle plus pectoral limb or fin|pectoral appendage/girdle complex|upper limb and shoulder|upper limb and pectoral girdle|upper limb|pectoral girdle plus anterior limb or fin FMA:7183|VSAO:0000213|EMAPA:37860 uberon owl:Class Appendage girdle complex that when present, encompasses the pectoral appendage and half of the pectoral girdle.[VSAO] note that the FMA uses the terms 'upper limb' and 'lower limb' to refer to the entire appendage complex (free limb plus girdle region) GO:0045605 biolink:NamedThing negative regulation of epidermal cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal cell differentiation. tmpxe7fu0cj_hp_relaxed.owl inhibition of epidermal cell differentiation|down regulation of epidermal cell differentiation|downregulation of epidermal cell differentiation|negative regulation of hypodermal cell differentiation|down-regulation of epidermal cell differentiation biological_process owl:Class GO:0045683 biolink:NamedThing negative regulation of epidermis development Any process that stops, prevents, or reduces the frequency, rate or extent of epidermis development. tmpxe7fu0cj_hp_relaxed.owl inhibition of epidermis development|down regulation of epidermis development|downregulation of epidermis development|negative regulation of epidermal development|negative regulation of hypodermis development|down-regulation of epidermis development biological_process owl:Class GO:0048822 biolink:NamedThing enucleate erythrocyte development The process aimed at the progression of an enucleate erythrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. tmpxe7fu0cj_hp_relaxed.owl enucleate red blood cell development|enucleate RBC development biological_process owl:Class GO:0048821 biolink:NamedThing erythrocyte development The process whose specific outcome is the progression of an erythrocyte over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl red blood cell development|RBC development biological_process owl:Class HP:0010189 biolink:NamedThing Osteolytic defects of the distal phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023979 doelkens 2009-05-29T01:52:41Z human_phenotype owl:Class HP:0010182 biolink:NamedThing Abnormality of the distal phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Abnormality of the outermost bone of the toes UMLS:C4023982 doelkens 2009-05-29T01:51:38Z human_phenotype owl:Class HP:0100007 biolink:NamedThing Neoplasm of the peripheral nervous system A benign or malignant neoplasm (tumour) of the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl Tumor of the peripheral nervous system|Tumour of the peripheral nervous system MSH:D010524|UMLS:C0031118|SNOMEDCT_US:126980002|NCIT:C3262 doelkens 2010-05-14T09:11:53Z human_phenotype owl:Class GO:1904820 biolink:NamedThing peritoneum development The process whose specific outcome is the progression of a peritoneum over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl peritonaeum development dph 2015-11-18T17:23:51Z biological_process owl:Class GO:1904817 biolink:NamedThing serous membrane development The process whose specific outcome is the progression of a serous membrane over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl tunica serosa development|serosa development|wall of serous sac development dph 2015-11-17T19:00:01Z biological_process owl:Class HP:0004959 biolink:NamedThing Descending thoracic aorta aneurysm An abnormal localized widening (dilatation) of the descending thoracic aorta. tmpxe7fu0cj_hp_relaxed.owl Dilatation of the descending thoracic aorta Fyler:2754|UMLS:C4025266 peter 2008-03-25T06:32:00Z HP:0004954 human_phenotype owl:Class HP:0012727 biolink:NamedThing Thoracic aortic aneurysm An abnormal localized widening (dilatation) of the thoracic aorta. tmpxe7fu0cj_hp_relaxed.owl Dilatation of the thoracic aorta UMLS:C0162872|MSH:D017545|SNOMEDCT_US:433068007 Aneurysm is considered a severe form of dilatation. peter 2014-03-23T02:22:20Z human_phenotype owl:Class HP:0032749 biolink:NamedThing Focal impaired awareness emotional seizure with paranoia Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032746 biolink:NamedThing Focal impaired awareness emotional seizure A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033055 biolink:NamedThing Impaired ability to plan Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity. tmpxe7fu0cj_hp_relaxed.owl Ineffective planning peter owl:Class HP:0033051 biolink:NamedThing Impaired executive functioning A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0001042 biolink:NamedThing chordate pharynx A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED]. tmpxe7fu0cj_hp_relaxed.owl pharynx SCTID:181211006|NCIT:C12425|XAO:0003227|ZFA:0000056|FMA:46688|Wikipedia:Pharynx|galen:Pharynx|VHOG:0000462|AAO:0000967|OpenCyc:Mx4rvViv7ZwpEbGdrcN5Y29ycA|BTO:0001049|EHDAA2:0001458|GAID:155|EHDAA:2947|MESH:A03.867|EMAPA:16706|CALOHA:TS-0785|UMLS:C0031354|TAO:0000056|MA:0000432|EV:0100065|EFO:0000836 Consider generalizing to deuterostome pharynx uberon owl:Class Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills. Kimmel et al, 1995.[TAO]|Anatomical cavity bounded by the derivatives of the branchial arches.[AAO]|A funnel-shaped fibromuscular tube that conducts food to the ESOPHAGUS, and air to the LARYNYX and LUNGS. It is located posterior to the NASAL CAVITY; ORAL CAVITY; and LARYNX, and extends from the SKULL BASE to the inferior border of the CRICOID CARTILAGE anteriorly and to the inferior border of the C6 vertebra posteriorly. It is divided into the NASOPHARYNX; OROPHARYNX; and HYPOPHARYNX (laryngopharynx)[MESH:A03.867].|The portion of the alimentary canal between the mouth and the oesophagus. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]|Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills[ZFA:0000056, ZFIN:ZDB-PUB-961014-576]. relationship type change: part_of_proxy respiratory system (AAO:0000541) CHANGED TO: part_of respiratory system (UBERON:0001004)[AAO]|relationship type change: part_of_proxy respiratory system (AAO:0000541) CHANGED TO: develops_from respiratory system (UBERON:0001004)[AAO] (...) the earliest vertebrates possessed unjointed internal and external branchial arches, and musculature encircling the pharynx.[well established][VHOG] MA/FMA pharynx not part of digestive/alimentary system, we are consistent with this scheme UBERON:0006562 biolink:NamedThing pharynx The pharynx is the part of the digestive system immediately posterior to the mouth[GO]. tmpxe7fu0cj_hp_relaxed.owl anterior part of foregut|pharyngeal tube MIAA:0000049|FBbt:00005380|MAT:0000049 currently this is an extremely generic class, encompassing both protostomes and deuterostomes. uberon owl:Class pharyngeal|branchial GO:0048749 biolink:NamedThing compound eye development The process whose specific outcome is the progression of the compound eye over time, from its formation to the mature structure. The compound eye is an organ of sight that contains multiple repeating units, often arranged hexagonally. Each unit has its own lens and photoreceptor cell(s) and can generate either a single pixelated image or multiple images, per eye. tmpxe7fu0cj_hp_relaxed.owl insect-type retina development GO:0007456 biological_process owl:Class GO:0071702 biolink:NamedThing organic substance transport The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon. tmpxe7fu0cj_hp_relaxed.owl mah 2010-03-08T02:15:14Z biological_process owl:Class HP:0003951 biolink:NamedThing Distal humeral metaphyseal irregularity Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow). tmpxe7fu0cj_hp_relaxed.owl Irregular metaphyses of elbow|Irregular wide portion of elbow bone UMLS:C4021703 human_phenotype owl:Class HP:0003913 biolink:NamedThing Humeral metaphyseal irregularity tmpxe7fu0cj_hp_relaxed.owl Irregular humeral metaphyses|Irregular wide portion of long bone in upper arm UMLS:C4021706 human_phenotype owl:Class HP:0010186 biolink:NamedThing Broad distal phalanx of the toes Increased width of the distal phalanx of toe of one or more toes. tmpxe7fu0cj_hp_relaxed.owl Wide outermost bone of the toe|Broad outermost bone of the toe UMLS:C4023980 doelkens 2009-05-29T01:52:41Z human_phenotype owl:Class HP:0010174 biolink:NamedThing Broad phalanx of the toes Increased width of phalanx of one or more toes. tmpxe7fu0cj_hp_relaxed.owl Wide toe bones UMLS:C4023986 doelkens 2009-05-29T01:39:26Z human_phenotype owl:Class HP:0000426 biolink:NamedThing Prominent nasal bridge Anterior positioning of the nasal root in comparison to the usual positioning for age. tmpxe7fu0cj_hp_relaxed.owl Protruding nasal bridge|Convex bridge of nose|Prominent bridge of nose|Prominent nasal bridge|Convex nasal bridge|Elevated nasal bridge|High nasal bridge|Protruding bridge of nose|Prominent nasal root UMLS:C4230640|UMLS:C1854113 A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately. HP:0005287|HP:0000432|HP:0004498|HP:0000442 human_phenotype owl:Class HP:0000422 biolink:NamedThing Abnormal nasal bridge morphology Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the nasal bridge|Malformation of the nasal bridge|Deformity of the bridge of the nose|Abnormality of the nasal root|Abnormality of the bridge of the nose|Malformation of the bridge of the nose|Deformity of the nasal bridge UMLS:C4021805 The nasal root is the most depressed, superior part of the nose along the nasal ridge. HP:0000423 owl:Class PR:O14841 biolink:NamedThing 5-oxoprolinase (human) A 5-oxoprolinase that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl hOPLAH|OPLAH|pyroglutamase (human)|5-oxo-L-prolinase (human)|5-OPase (human) UniProtKB:O14841|Reactome:R-HSA-1247948 Category=organism-gene. protein owl:Class HP:0011682 biolink:NamedThing Perimembranous ventricular septal defect A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. tmpxe7fu0cj_hp_relaxed.owl Membranous ventricular septal defect|Paramembranous ventricular septal defect|Type 2 ventricular septal defect|Ventricular septal defect, perimembranous|Conoventricular ventricular septal defect|Perimembraneous ventricular septal defect UMLS:C0344925|SNOMEDCT_US:109428005|Fyler:1310 peter 2012-04-10T08:21:13Z human_phenotype owl:Class HP:0001629 biolink:NamedThing Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. tmpxe7fu0cj_hp_relaxed.owl Ventricular septal defects|Hole in heart wall separating two lower heart chambers|VSD|Ventriculoseptal defect SNOMEDCT_US:30288003|Fyler:1300|SNOMEDCT_US:253549006|MSH:D006345|UMLS:C0018818 HP:0001652 owl:Class CL:0002187 biolink:NamedThing basal cell of epidermis A basally situated, mitotically active, columnar-shaped keratinocyte attached to the basement membrane. tmpxe7fu0cj_hp_relaxed.owl FMA:70571 tmeehan 2010-08-26T03:12:49Z CL:1000439 cell owl:Class CL:0000312 biolink:NamedThing keratinocyte An epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell. tmpxe7fu0cj_hp_relaxed.owl keratinized cell of epidermis|malpighian cell CALOHA:TS-0500|BTO:0000667|FMA:62879 Keratinocytes are reportedly CDw210a-negative, CDw210b-positive, CD281-positive, CD282-positive, CD285-positive, IL22Ra1-positive, Human keratinocytes are reportedly capable of secreting BD-2, BD-3, hCAP-18, CXCL1, CXCL5, CXCL8, elafin, MMP-3, NGAL, PDGF-A, S100A7, S100A8, and S100A9. Transcription factors: STAT3-positive. CL:0002185 cell owl:Class UBERON:0002469 biolink:NamedThing esophagus mucosa A mucosa that is part of a esophagus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucous membrane of esophagus|mucosa of esophagus|esophageal mucous membrane|tunica mucosa esophagi|muscularis mucosae of oesophagus|tunica mucosa oesophagi|esophagus mucous membrane|mucosa of oesophagus|tunica mucosa oesophageae|esophagus mucosa|oesophageal mucosa|oesophagus mucous membrane|esophageal mucosa|oesophagus mucosa|lamina muscularis mucosae oesophageae|mucous membrane of oesophagus EMAPA:26981|NCIT:C32538|UMLS:C0227176|FMA:62996|MA:0002680|BTO:0002859|SCTID:362127004 UBERON:0003345 uberon owl:Class CHEBI:533015 biolink:NamedThing 3,3',5-triiodo-L-thyronine zwitterion The amino acid zwitterion formed from 3,3',5-triiodo-L-thyronine by tranfer of a proton from the carboxy group to the amino group. It is the major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl 3,3',5-triiodo-L-thyronine|(S)-2-Amino-3-[4-(4-hydroxy-3-iodo-phenoxy)-3,5-diiodo-phenyl]-propionic acid|(2S)-2-azaniumyl-3-[4-(4-hydroxy-3-iodophenoxy)-3,5-diiodophenyl]propanoate 0 C15H12I3NO4 InChI=1S/C15H12I3NO4/c16-9-6-8(1-2-13(9)20)23-14-10(17)3-7(4-11(14)18)5-12(19)15(21)22/h1-4,6,12,20H,5,19H2,(H,21,22)/t12-/m0/s1 AUYYCJSJGJYCDS-LBPRGKRZSA-N 650.97350 650.79004 [NH3+][C@@H](Cc1cc(I)c(Oc2ccc(O)c(I)c2)c(I)c1)C([O-])=O MetaCyc:CPD-10813 chebi_ontology owl:Class UBERON:0001805 biolink:NamedThing autonomic ganglion Ganglion that has dendrites that form a junction between autonomic nerves originating from the central nervous system and autonomic nerves innervating their target organs in the periphery. There are two subtypes, sympathetic ganglion and parasympathetic ganglion. tmpxe7fu0cj_hp_relaxed.owl ganglion of visceral nervous system|ganglion autonomicum|autonomic nervous system ganglion|ganglion of autonomic nervous system|visceral nervous system ganglion EMAPA:17157|FMA:5889|MESH:D005725|Wikipedia:Autonomic_ganglion|NCIT:C12720|EMAPA:18221|UMLS:C0017068|MA:0000220|AEO:0001001|CALOHA:TS-2340 http://upload.wikimedia.org/wikipedia/commons/f/f7/Gray839.png uberon owl:Class UBERON:0003419 biolink:NamedThing mesenchyme of parotid Mesenchyme that is part of a developing parotid gland [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl parotid gland mesenchyme|mesenchyme of parotid gland|parotid mesenchyme VHOG:0001435|EMAPA:18539 uberon owl:Class UBERON:0003324 biolink:NamedThing mesenchyme of lower jaw Mesenchyme that is part of a developing lower jaw [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of ventral mandibular arch|lower jaw mesenchyme|ventral mandibular arch mesenchyme EHDAA2:0001024|EHDAA:8003|VHOG:0001069|EMAPA:17916 uberon owl:Class GO:0002690 biolink:NamedThing positive regulation of leukocyte chemotaxis Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. tmpxe7fu0cj_hp_relaxed.owl positive regulation of leucocyte chemotaxis|positive regulation of immune cell chemotaxis|upregulation of leukocyte chemotaxis|up-regulation of leukocyte chemotaxis|up regulation of leukocyte chemotaxis|activation of leukocyte chemotaxis|stimulation of leukocyte chemotaxis biological_process owl:Class HP:0032645 biolink:NamedThing Renal interstitial mononuclear cell infiltration Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032581 biolink:NamedThing Abnormal renal insterstitial morphology Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0001886 biolink:NamedThing endothelial cell morphogenesis The change in form (cell shape and size) that occurs during the differentiation of an endothelial cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0003382 biolink:NamedThing epithelial cell morphogenesis The change in form that occurs when an epithelial cell progresses from its initial formation to its mature state. tmpxe7fu0cj_hp_relaxed.owl dph 2009-12-09T07:21:06Z biological_process owl:Class UBERON:0013514 biolink:NamedThing space surrounding organism The space that surrounds an organism. tmpxe7fu0cj_hp_relaxed.owl outside of body|external to organism uberon owl:Class GO:0070874 biolink:NamedThing negative regulation of glycogen metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0000174 biolink:NamedThing Abnormal palate morphology Any abnormality of the palate, i.e., of roof of the mouth. tmpxe7fu0cj_hp_relaxed.owl Palatal anomaly|Abnormality of the palate|Abnormality of the roof of the mouth|Palate abnormality UMLS:C4021815 human_phenotype owl:Class HP:0500110 biolink:NamedThing Positive urine cannabinoid test Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine. tmpxe7fu0cj_hp_relaxed.owl Postive urine pot test|Positive urine marijuana test 2018-06-25 15:40:37+00:00 Cannabis (marijuana, hashish) is the most widely used illegal drug in the world. The primary psychoactive component in cannabis is delta9-tetrahydrocannabinol (THC), which is rapidly metabolized to equipotent 11-hydroxy-THC (11-OH-THC) and non-psychoactive 11-nor-9-carboxy- delta9-tetrahydrocannabinol (THCCOOH). owl:Class HP:0031840 biolink:NamedThing Urine xenobiotic The presence of a xenobiotic in urine. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 14:15:17+00:00 peter owl:Class UBERON:0036262 biolink:NamedThing uterine ligament Any of the eight ligaments pertaining to the uterus including the anterior, posterior, lateral, sacro-uterine and round ligaments. tmpxe7fu0cj_hp_relaxed.owl NCIT:C61360 uberon owl:Class HP:0033553 biolink:NamedThing Septic embolism Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system. tmpxe7fu0cj_hp_relaxed.owl Septic emboli 2021-01-22 12:51:18+00:00 peter owl:Class HP:0001907 biolink:NamedThing Thromboembolism The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. tmpxe7fu0cj_hp_relaxed.owl Thromboembolic events|Embolism and thrombosis|Thromboembolic disease|Blood clot in blood vessel SNOMEDCT_US:13713005|MSH:D016769|UMLS:C0040038|SNOMEDCT_US:371039008|MSH:D013923|UMLS:C0085307 owl:Class HP:0005829 biolink:NamedThing Maldevelopment of radioulnar joint tmpxe7fu0cj_hp_relaxed.owl UMLS:C3149879 human_phenotype owl:Class HP:0003059 biolink:NamedThing Abnormality of the radioulnar joints tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025658 human_phenotype owl:Class HP:0008717 biolink:NamedThing Unilateral renal atrophy A unilateral form of atrophy of the kidney. tmpxe7fu0cj_hp_relaxed.owl Unilateral kidney wasting|Kidney degeneration on one side SNOMEDCT_US:424998002|UMLS:C1827184 human_phenotype owl:Class HP:0012585 biolink:NamedThing Renal atrophy Atrophy of the kidney. tmpxe7fu0cj_hp_relaxed.owl Kidney degeneration UMLS:C0341698|SNOMEDCT_US:197659005 peter 2014-01-16T03:21:19Z human_phenotype owl:Class GO:0030661 biolink:NamedThing chitosome membrane The lipid bilayer surrounding a chitosome. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0030129 biolink:NamedThing Impaired ristocetin cofactor assay activity Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022619 Ristocetin induced platelet agglutination (RIPA) is similar to the Ristocetin Cofactor Assay but RIPA measures platelet agglutination induced by Ristocetin-mediated VWF binding to the platelet Gp1b receptor. WITH RIPA, the ristocetin is added directly to the patient's platelet rich plasma and there are no serial dilutions of the plasma sample. owl:Class HP:0009555 biolink:NamedThing Hypoplasia of the pharynx Underdevelopment of the pharynx. tmpxe7fu0cj_hp_relaxed.owl Decreased volume of pharynx|Decreased diameter of pharynx|Small pharynx|Decreased width of pharynx|Underdevelopment of pharynx|Hypotrophic pharynx|Decreased size of pharynx|Decreased length of pharynx UMLS:C4024295|UMLS:C4280399|UMLS:C4280400|UMLS:C4280397|UMLS:C4280396|UMLS:C4280398 peter 2009-01-21T05:24:16Z human_phenotype owl:Class HP:0033151 biolink:NamedThing Abnormal pharynx morphology A structural anomaly of the pharynx. tmpxe7fu0cj_hp_relaxed.owl 2020-09-20 11:17:40+00:00 peter owl:Class HP:0012376 biolink:NamedThing Microphakia Abnormal smallness of the lens. tmpxe7fu0cj_hp_relaxed.owl Small lens SNOMEDCT_US:35272001|UMLS:C0266541 peter 2013-10-13T06:11:11Z human_phenotype owl:Class HP:0008063 biolink:NamedThing Aplasia/Hypoplasia of the lens Absence or underdevelopment of the lens. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped lens|Absent/small lens UMLS:C4024738 peter 2008-04-02T03:33:00Z human_phenotype owl:Class UBERON:0008995 biolink:NamedThing nucleus of cerebellar nuclear complex Four accumulations of gray substance embedded in the white substance of the cerebellum, comprising the nucleus dentatus, nucleus emboliformis, nucleus globosus, and nucleus fastigii. tmpxe7fu0cj_hp_relaxed.owl cerebellar nucleus|deep cerebellar nucleus BTO:0003835|EMAPA:35272|FMA:321695|MA:0000203 uberon owl:Class One or more deep cerebellar nuclei appear in agnathans, sharks, ropefishes, lungfishes, Latimeria, and amphibians. Reptiles have two nuclei (a medial and a lateral), and birds and mammals have three nuclei (a medial, a lateral, and an interposed nucleus). The medial nucleus of mammals is known as the fastigial nucleus, and the lateral nucleus is known as the dentate nucleus.[BgeeDb][ISBN:0471888893] UBERON:0002308 biolink:NamedThing nucleus of brain A neural nucleus that is part of the brain. tmpxe7fu0cj_hp_relaxed.owl brain nucleus|brain nuclei ZFA:0005575|UMLS:C1706993|MA:0000811|EMAPA:35185|FMA:83840|NCIT:C49346|SCTID:426465002 uberon owl:Class HP:0030677 biolink:NamedThing Mozart ear A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073124 HPO:skoehler owl:Class HP:0010807 biolink:NamedThing Open bite Visible space between the dental arches in occlusion. tmpxe7fu0cj_hp_relaxed.owl Open bite between upper and lower teeth|Open bite|Absence of overlap of upper and lower teeth UMLS:C0266061|MSH:D024343|SNOMEDCT_US:35580009 An open bite produces an absence of vertical overlap of the two dental arches. It may be associated with malocclusion, but this should be coded separately. Open bite can be accompanied by malocclusion, which is a complex bundled term. The Angle classification of malocclusion (Classes I-III) is widely used in the orthodontics community [Moyers, [1973]] for the characterization of malocclusion. peter 2010-07-02T09:30:43Z human_phenotype owl:Class HP:0000692 biolink:NamedThing Tooth malposition Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. tmpxe7fu0cj_hp_relaxed.owl Abnormal teeth spacing|Malposition of teeth|Abnormality of teeth spacing|Malpositioned teeth|Abnormal dental position|Misalignment of teeth|Teeth, malposition|Crooked teeth|Abnormality of alignment of teeth|Malaligned teeth|Abnormality of position of teeth UMLS:C1852504|UMLS:C4280610 HP:0001569|HP:0006303|HP:0006478|HP:0000693 owl:Class CHEBI:52290 biolink:NamedThing mitogen A chemical substance that encourages a cell to commence cell division, triggering mitosis. tmpxe7fu0cj_hp_relaxed.owl mitogens chebi_ontology owl:Class HP:0004802 biolink:NamedThing Episodic hemolytic anemia A form of hemolytic anemia that occurs in repeated episodes. tmpxe7fu0cj_hp_relaxed.owl Episodic hemolytic anaemia|Episodic hemolysis UMLS:C1859495 human_phenotype owl:Class HP:0001878 biolink:NamedThing Hemolytic anemia A type of anemia caused by premature destruction of red blood cells (hemolysis). tmpxe7fu0cj_hp_relaxed.owl Hemolytic anaemia|Increased hemolysis|Haemolytic anaemia SNOMEDCT_US:61261009|UMLS:C0002878|MSH:D000743 Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count. HP:0004868|HP:0004853|HP:0005503|HP:0004827|HP:0001910 human_phenotype owl:Class HP:0030077 biolink:NamedThing Bronchial neoplasm A tumor originating in a bronchus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0006264|SNOMEDCT_US:126705004|NCIT:C3262|MSH:D001984 owl:Class HP:0100552 biolink:NamedThing Neoplasm of the tracheobronchial system tmpxe7fu0cj_hp_relaxed.owl NCIT:C3262|UMLS:C4022026 doelkens 2010-12-21T03:46:30Z human_phenotype owl:Class GO:0048633 biolink:NamedThing positive regulation of skeletal muscle tissue growth Any process that activates, maintains or increases the rate of skeletal muscle growth. tmpxe7fu0cj_hp_relaxed.owl up-regulation of skeletal muscle growth|activation of skeletal muscle growth|stimulation of skeletal muscle growth|up regulation of skeletal muscle growth|upregulation of skeletal muscle growth biological_process owl:Class HP:0000448 biolink:NamedThing Prominent nose Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. tmpxe7fu0cj_hp_relaxed.owl Large nose|Pronounced nose|Nasal hyperplasia|Hypertrophy of nose|Increased nasal size|Nasal hypertrophy|Prominent nose|Big nose|Hyperplasia of nose|Disproportionately large nose|Increased size of nose SNOMEDCT_US:249311009|UMLS:C1400105|UMLS:C0426415|UMLS:C4280629 HP:0005271|HP:0200140|HP:0000461 human_phenotype owl:Class HP:0020184 biolink:NamedThing Decreased circulating A-type natriuretic peptide level A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-24 16:42:47+00:00 owl:Class HP:0020182 biolink:NamedThing Abnormal A-type atrial natriuretic peptide level A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-24 16:39:04+00:00 owl:Class HP:0030362 biolink:NamedThing Reduced muscle carnitine level A reduction in the level of carnitine in muscle tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072902 Carnitine deficiency may be observed in a systemic form or be limited to skeletal muscle tissue. Carnitine levels can be measured by assays of muscle tissue (biopsy). Alternatively, 1H-NMR spectroscopy can be used for qualitative measurement of muscle carnitine levels. owl:Class HP:0002884 biolink:NamedThing Hepatoblastoma A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:109843000|UMLS:C0206624|SNOMEDCT_US:45024009|NCIT:C3728|MSH:D018197 Hepatoblastoma occurs nearly exclusively in infants and children. human_phenotype owl:Class HP:0002898 biolink:NamedThing Embryonal neoplasm tmpxe7fu0cj_hp_relaxed.owl Embryonal tumors|Embryonal neoplasia|Embryonal tumours UMLS:C0027654|MSH:D009373 human_phenotype owl:Class UBERON:0003865 biolink:NamedThing distal phalanx of manus A distal phalanx that is part of a finger [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl ungual phalanx of hand|distal phalanx of manual digit|distal manual phalanx|distal phalanx of hand|phalanx distalis manus|distal phalanx of finger|hand distal phalanx|terminal phalanx of hand UMLS:C1269782|EMAPA:35393|NCIT:C52784|MA:0001388|FMA:75818 This is typically proximally connected to the middle phalanx of manus, except in some cases such as the manual digit 1 (thumb) of many mammals such as humans, where it connects to the proximal phalanx. It always connects to some phalanx, by definition uberon owl:Class UBERON:0004300 biolink:NamedThing distal phalanx Distal-most phalanx within a digit. tmpxe7fu0cj_hp_relaxed.owl ungual phalanx|phalanx distalis|terminal phalanx EMAPA:35287|MA:0002914|AAO:0010676 http://upload.wikimedia.org/wikipedia/commons/a/ab/Scheme_human_hand_bones-en.svg uberon owl:Class In human anatomy, the distal phalanges of the four fingers and toes articulate proximally with the intermediate phalanges at the distal interphalangeal joints (DIP); in the thumb and big toe, with only two phalanges, the distal phalanges articulate proximally with the proximal phalanges. The distal phalanges carry and shape nails and claws and are therefore occasionally referred to as the ungual phalanges. The distal phalanges are cone-shaped in most mammals, including most primates, but relatively wide and flat in humans. UBERON:0003615 biolink:NamedThing lung elastic tissue Elastic tissue that is part of a lung [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pulmonary elastic fiber|lung textus connectivus elasticus|elastic tissue of lung|lung elastic connective tissue|elastic connective tissue of lung|textus connectivus elasticus of lung MA:0002860 uberon owl:Class UBERON:0002521 biolink:NamedThing elastic tissue Connective tissue composed of elastic fibers. tmpxe7fu0cj_hp_relaxed.owl elastic fiber|elastic connective tissue|textus connectivus elasticus MESH:D004547|SCTID:27197004|Wikipedia:Elastic_fiber|FMA:20113|NCIT:C32495|GAID:926|MA:0002853 http://upload.wikimedia.org/wikipedia/commons/c/cb/Gray377.png uberon owl:Class UBERON:0004789 biolink:NamedThing larynx mucous gland A mucous gland that is part of a larynx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucous gland of larynx MA:0001767|EMAPA:37631 uberon owl:Class GO:1902679 biolink:NamedThing negative regulation of RNA biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of RNA biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl down regulation of RNA biosynthetic process|downregulation of RNA anabolism|downregulation of RNA synthesis|down-regulation of RNA anabolism|down regulation of RNA formation|inhibition of RNA anabolism|negative regulation of RNA anabolism|negative regulation of RNA formation|inhibition of RNA synthesis|down-regulation of RNA formation|downregulation of RNA biosynthetic process|negative regulation of RNA biosynthesis|downregulation of RNA formation|negative regulation of RNA synthesis|downregulation of RNA biosynthesis|down regulation of RNA anabolism|down-regulation of RNA synthesis|down regulation of RNA biosynthesis|down-regulation of RNA biosynthesis|down-regulation of RNA biosynthetic process|inhibition of RNA biosynthetic process|inhibition of RNA biosynthesis|down regulation of RNA synthesis|inhibition of RNA formation jl 2014-02-05T16:32:01Z biological_process owl:Class HP:0012761 biolink:NamedThing Absent mastoid A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent. tmpxe7fu0cj_hp_relaxed.owl Failure of development of mastoid|Absent mastoids|Mastoid agenesis UMLS:C4021070 peter 2014-04-03T01:06:18Z HP:0200110 human_phenotype owl:Class HP:0000264 biolink:NamedThing Abnormality of the mastoid An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of mastoid process of temporal bone UMLS:C4025872 owl:Class HP:0008598 biolink:NamedThing Mild conductive hearing impairment A mild form of conductive hearing impairment. tmpxe7fu0cj_hp_relaxed.owl Conductive hearing loss, mild UMLS:C4021536 Conductive hearing impairment with 21-40 dB deficit. human_phenotype owl:Class HP:0012712 biolink:NamedThing Mild hearing impairment The presence of a mild form of hearing impairment. tmpxe7fu0cj_hp_relaxed.owl Mild hearing impairment UMLS:C4022758 peter 2014-03-23T12:33:46Z human_phenotype owl:Class HP:0011625 biolink:NamedThing Multiple muscular ventricular septal defects A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum. tmpxe7fu0cj_hp_relaxed.owl Swiss cheese ventricular septal defect UMLS:C4023263 peter 2012-04-08T09:49:03Z human_phenotype owl:Class HP:0011623 biolink:NamedThing Muscular ventricular septal defect The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle. tmpxe7fu0cj_hp_relaxed.owl Type 4 ventricular septal defect|Ventricular septal defect, muscular SNOMEDCT_US:94706008|UMLS:C0685707|Fyler:1320 peter 2012-04-08T09:43:15Z human_phenotype owl:Class UBERON:0010255 biolink:NamedThing 3rd arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 3rd arch mesenchyme. tmpxe7fu0cj_hp_relaxed.owl mesenchyme derived from neural crest of mesenchyme of 3rd arch|neural crest derived arch 3 mesenchyme|branchial arch 3 mesenchyme from neural crest|3rd pharyngeal arch mesenchyme derived from neural crest|pharyngeal arch 3 mesenchyme from neural crest EHDAA2:0000083|VHOG:0000571|EMAPA:16404 uberon owl:Class In all vertebrates, the pharyngeal apparatus develops from a series of bulges found on the lateral surface of the head, the pharyngeal arches, which consist of a number of different embryonic cell types. Each arch has an external covering of ectoderm and inner covering of endoderm, and between these a mesenchymal filling of neural crest with a central core of mesoderm.[well established][VHOG] HP:0008499 biolink:NamedThing High hypermetropia A severe form of hypermetropia with over +5.00 diopters. tmpxe7fu0cj_hp_relaxed.owl Severe long-sightedness|High hyperopia|Severe farsightedness|High-grade hypermetropia UMLS:C4024665 human_phenotype owl:Class HP:0000540 biolink:NamedThing Hypermetropia An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. tmpxe7fu0cj_hp_relaxed.owl Hyperopia|Long-sightedness|Farsightedness UMLS:C0020490|MSH:D006956|SNOMEDCT_US:38101003 The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D). human_phenotype owl:Class UBERON:0010161 biolink:NamedThing lumen of blood vessel An anatomical cavity that surrounded_by a blood vessel. tmpxe7fu0cj_hp_relaxed.owl blood vessel lumen SCTID:91747007|FMA:312610 uberon owl:Class GO:0055117 biolink:NamedThing regulation of cardiac muscle contraction Any process that modulates the frequency, rate or extent of cardiac muscle contraction. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0051276 biolink:NamedThing chromosome organization A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. tmpxe7fu0cj_hp_relaxed.owl chromosome organization and biogenesis|chromosome organisation|nuclear genome maintenance|maintenance of genome integrity GO:0007001|GO:0051277 biological_process owl:Class HP:0012650 biolink:NamedThing Perisylvian polymicrogyria Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly. tmpxe7fu0cj_hp_relaxed.owl Frontoparietal polymicrogyria UMLS:C3279675 The Sylvian fissure (also known as the lateral sulcus) separates the frontal and parietal lobes superiorly from the temporal lobe inferiorly. peter 2014-02-06T07:47:51Z HP:0007095 owl:Class HP:0002126 biolink:NamedThing Polymicrogyria Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). tmpxe7fu0cj_hp_relaxed.owl More grooves in brain MSH:D065706|SNOMEDCT_US:4945003|UMLS:C0266464 Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination. human_phenotype owl:Class GO:0003094 biolink:NamedThing glomerular filtration tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0097205 biolink:NamedThing renal filtration tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0002345 biolink:NamedThing descending thoracic aorta The part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. tmpxe7fu0cj_hp_relaxed.owl EFO:0002527|FMA:87217|EMAPA:18605|MA:0002572 uberon owl:Class CL:0008035 biolink:NamedThing microcirculation associated smooth muscle cell tmpxe7fu0cj_hp_relaxed.owl dos 2020-02-29 17:37:00+00:00 owl:Class CL:0000359 biolink:NamedThing vascular associated smooth muscle cell A smooth muscle cell associated with the vasculature. tmpxe7fu0cj_hp_relaxed.owl vascular smooth muscle cell|VSMC cell owl:Class UBERON:0001610 biolink:NamedThing lingual artery The lingual artery arises from the external carotid between the superior thyroid and facial artery[WP]. tmpxe7fu0cj_hp_relaxed.owl arteria lingualis|lingual branch of external carotid artery Wikipedia:Lingual_artery|NCIT:C52961|MA:0001992|AAO:0010492|UMLS:C0226104|FMA:49526|EMAPA:36324|SCTID:181327002|OpenCyc:Mx4rvfqDCZwpEbGdrcN5Y29ycA Lingual:artery.PNG uberon owl:Class Part of the external carotid which supplies blood to the tongue.[AAO] relationship loss: part_of external carotid (AAO:0010218)[AAO] CHEBI:26834 biolink:NamedThing sulfur-containing amino acid tmpxe7fu0cj_hp_relaxed.owl sulfur-containing amino acids chebi_ontology owl:Class HP:0031279 biolink:NamedThing Abnormal response to gonadotropin-releasing hormone stimulation test An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH). tmpxe7fu0cj_hp_relaxed.owl Abnormal response to GnRH stimulation test 2017-08-13 16:47:03+00:00 This test is regarded as the gold standard to identify central precocious puberty. peter owl:Class HP:0031073 biolink:NamedThing Abnormal response to endocrine stimulation test An anomalous response to a test that is designed to probe the function of the endocrine system. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 23:14:39+00:00 peter owl:Class GO:0042065 biolink:NamedThing glial cell growth Growth of glial cells, non-neuronal cells that provide support and nutrition, maintain homeostasis, form myelin, and participate in signal transmission in the nervous system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0048588 biolink:NamedThing developmental cell growth The growth of a cell, where growth contributes to the progression of the cell over time from one condition to another. tmpxe7fu0cj_hp_relaxed.owl developmental growth of a unicellular organism biological_process owl:Class HP:0001898 biolink:NamedThing Increased red blood cell mass The presence of an increased mass of red blood cells in the circulation. tmpxe7fu0cj_hp_relaxed.owl Increased RBC mass UMLS:C1853288 human_phenotype owl:Class HP:0001901 biolink:NamedThing Polycythemia Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. tmpxe7fu0cj_hp_relaxed.owl Erythrocytosis|Increased red blood cells|Polyglobulia|Abnormally shaped erythrocytes UMLS:C0032461|SNOMEDCT_US:109992005|SNOMEDCT_US:127062003|UMLS:C1527405|MSH:D011086 HP:0001893 human_phenotype owl:Class GO:0014029 biolink:NamedThing neural crest formation The formation of the specialized region of ectoderm between the neural ectoderm (neural plate) and non-neural ectoderm. The neural crest gives rise to the neural crest cells that migrate away from this region as neural tube formation procedes. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0200064 biolink:NamedThing Asymmetry of iris pigmentation Asymmetry between the two irides or asymmetry between different parts of one iris. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:247033008|UMLS:C0423318|MSH:C538115 sebastiankohler 2013-05-31T01:27:41Z human_phenotype owl:Class HP:0008034 biolink:NamedThing Abnormal iris pigmentation Abnormal pigmentation of the iris. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1834387 human_phenotype owl:Class UBERON:0001617 biolink:NamedThing mental artery The mental branch of inferior alveolar artery escapes with the nerve at the mental foramen, supplies the chin, and anastomoses with the submental and inferior labial arteries. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl mental branch of inferior alveolar artery|ramus mentalis (arteria alveolaris inferior) UMLS:C0226144|NCIT:C52973|EMAPA:37105|MA:0002002|FMA:49701 uberon owl:Class UBERON:0015846 biolink:NamedThing incisor mesenchyme An odontogenic mesenchyme that is part of a incisor tooth. tmpxe7fu0cj_hp_relaxed.owl EMAPA:32894|MA:0003229 uberon owl:Class UBERON:0003856 biolink:NamedThing uncondensed odontogenic mesenchyme Mesenchyme enclosed by a dental organ that gives rise to an odontogenic papilla. tmpxe7fu0cj_hp_relaxed.owl tooth enamel organ mesenchyme|dental mesenchyme|enamel organ mesenchyme|tooth mesenchyme|dental organ mesenchyme VHOG_RETIRED:0001444|MA:0003152|ZFA:0005139|EMAPA:32891|TAO:0005139 we follow ZFA in introducing an additional distinction between the dental papilla and the (uncondensed) mesenchyme. Note that in some species such as zebrafish teeth are not part of the mouth, and sharks have dermal denticles which share similar developmental origins with teeth. For now we assume a NC origin for all and add a taxon restriction to 1st arch mesenchyme uberon owl:Class Mesenchyme enclosed by dental organ.[MP]|Mesenchyme enclosed by dental organ.[TAO] UBERON:0009859 biolink:NamedThing endosteum A thin layer of connective tissue that lines the surface of the bony tissue that forms the medullary cavity of long bones. tmpxe7fu0cj_hp_relaxed.owl NCIT:C13183|UMLS:C0222658|FMA:32692 http://upload.wikimedia.org/wikipedia/commons/9/94/Illu_long_bone.jpg uberon owl:Class endosteal UBERON:0015022 biolink:NamedThing hindlimb endochondral element A hindlimb bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl hindlimb bone skeletal element uberon owl:Class UBERON:0015061 biolink:NamedThing limb endochondral element A limb bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl limb bone skeletal element|limb bone endochondral element uberon owl:Class GO:0110117 biolink:NamedThing positive regulation of compound eye photoreceptor cell differentiation Any process that activates or increases the frequency, rate or extent of compound eye photoreceptor cell differentiation. tmpxe7fu0cj_hp_relaxed.owl kmv 2018-07-16T18:13:28Z biological_process owl:Class GO:0046534 biolink:NamedThing positive regulation of photoreceptor cell differentiation Any process that activates or increases the frequency, rate or extent of photoreceptor cell differentiation. An example of this process is found in Drosophila melanogaster. tmpxe7fu0cj_hp_relaxed.owl stimulation of photoreceptor differentiation|up-regulation of photoreceptor differentiation|activation of photoreceptor differentiation|up regulation of photoreceptor cell differentiation|stimulation of photoreceptor cell differentiation|upregulation of photoreceptor cell differentiation|upregulation of photoreceptor differentiation|up regulation of photoreceptor differentiation|up-regulation of photoreceptor cell differentiation|positive regulation of photoreceptor differentiation|activation of photoreceptor cell differentiation GO:0045675 biological_process owl:Class UBERON:0011820 biolink:NamedThing atrioventricular region An anatomical junction that divides and overlaps with and atrium and a ventricle in the heart. tmpxe7fu0cj_hp_relaxed.owl atrial ventricular junction|atrioventricular junction|AV segment|AV region|atrioventricular segment EHDAA2:0004149|FMA:85125 uberon owl:Class UBERON:0004871 biolink:NamedThing somatic layer of lateral plate mesoderm Layer of lateral plate mesoderm that forms the future body wall - underlies the ectoderm[WP]. tmpxe7fu0cj_hp_relaxed.owl outer layer of lateral plate mesoderm|parietal mesoderm|somatic mesoderm XAO:0000271|AAO:0011100|BILA:0000047|FMA:295570 check BILA uberon owl:Class HP:0005224 biolink:NamedThing Rectal abscess A collection of pus in the area of the rectum. tmpxe7fu0cj_hp_relaxed.owl Perirectal abscess SNOMEDCT_US:197166005|UMLS:C0149770|SNOMEDCT_US:91669008|UMLS:C0267566 HP:0002567 owl:Class HP:0000849 biolink:NamedThing Adrenocortical abnormality tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025820 human_phenotype owl:Class UBERON:0005853 biolink:NamedThing sacral spinal cord ventral column A subdivision of spinal cord ventral column that is part of a sacral spinal cord. tmpxe7fu0cj_hp_relaxed.owl BIRNLEX:1520 uberon owl:Class UBERON:0016551 biolink:NamedThing subdivision of spinal cord ventral column tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0002048 biolink:NamedThing lung Respiration organ that develops as an outpocketing of the esophagus. tmpxe7fu0cj_hp_relaxed.owl pulmo BTO:0000763|GAID:345|MA:0000415|FMA:7195|EFO:0000934|MAT:0000135|EHDAA:1554|CALOHA:TS-0568|XAO:0000119|VHOG:0000310|OpenCyc:Mx4rvVjKy5wpEbGdrcN5Y29ycA|MIAA:0000135|AAO:0000275|MESH:D008168|NCIT:C12468|AAO:0010567|EHDAA:2205|EV:0100042|SCTID:181216001|EHDAA2:0001042|Wikipedia:Lung|UMLS:C0024109|galen:Lung|EMAPA:16728 Snakes and limbless lizards typically possess only the right lung as a major respiratory organ; the left lung is greatly reduced, or even absent. Amphisbaenians, however, have the opposite arrangement, with a major left lung, and a reduced or absent right lung [WP] uberon https://github.com/obophenotype/uberon/issues/701 owl:Class Either of two organs which allow gas exchange absorbing oxygen from inhaled air and releasing carbon dioxide with exhaled air.[AAO] Lungs had already developed as paired ventral pockets from the intestine in the ancestor of Osteognathostomata. (...) In actinopterygian fishes, apart from Cladistia, the ventral intestinal pocket migrates dorsally and becomes the swim-bladder, a mainly hydrostatical organ (reference 1); Comparative transcriptome analyses indicate molecular homology of zebrafish swimbladder and Mammalian lung (reference 2).[well established][VHOG] pulmonary respiration organ in all air-breathing animals, including most tetrapods, a few fish and a few snails. In mammals and the more complex life forms, the two lungs are located in the chest on either side of the heart. Their principal function is to transport oxygen from the atmosphere into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere. This exchange of gases is accomplished in the mosaic of specialized cells that form millions of tiny, exceptionally thin-walled air sacs called alveoli. // Avian lungs do not have alveoli as mammalian lungs do, they have Faveolar lungs. They contain millions of tiny passages known as para-bronchi, connected at both ends by the dorsobronchi HP:0006094 biolink:NamedThing Finger joint hypermobility tmpxe7fu0cj_hp_relaxed.owl Increased mobility in finger joint SNOMEDCT_US:298193009|UMLS:C0574974 human_phenotype owl:Class HP:0006256 biolink:NamedThing Abnormality of hand joint mobility tmpxe7fu0cj_hp_relaxed.owl Abnormality of hand joint mobility UMLS:C4025076 peter 2008-03-28T10:14:00Z human_phenotype owl:Class HP:0020196 biolink:NamedThing IgM heavy chain paraproteinemia An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-09-05 14:05:43+00:00 owl:Class UBERON:0004793 biolink:NamedThing secretion of exocrine pancreas A secretion that is part of a exocrine pancreas [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pars exocrina pancreatis secretion|exocrine pancreas secretion|pancreatic exocrine secretion|secretion of pars exocrina pancreatis NCIT:C33256|UMLS:C1518867|MA:0002518 uberon owl:Class HP:0010848 biolink:NamedThing EEG with spike-wave complexes (2.5-3.5 Hz) The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023685 peter 2010-07-10T08:21:13Z human_phenotype owl:Class HP:0010850 biolink:NamedThing EEG with spike-wave complexes Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023683 peter 2010-07-10T08:23:28Z human_phenotype owl:Class CL:0000216 biolink:NamedThing Sertoli cell A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier. tmpxe7fu0cj_hp_relaxed.owl VHOG:0001348|BTO:0001238|FMA:72298|CALOHA:TS-0922 cell owl:Class UBERON:0004217 biolink:NamedThing upper arm nerve A nerve that is part of a forelimb stylopod [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl MA:0000607|EMAPA:37337 uberon owl:Class HP:0010997 biolink:NamedThing Chromosomal breakage induced by ionizing radiation Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation. tmpxe7fu0cj_hp_relaxed.owl Chromosomal breakage induced by ionising radiation|Radiation-induced chromosome instability|Increased cellular radiosensitivity UMLS:C4021206 Increased tendency to chromosomal breakage induced by crosslinking agents is typical for several disorders including ataxia teleangiectasia and Nijmegen breakage syndrome. peter 2011-02-10T06:10:33Z human_phenotype owl:Class UBERON:0014717 biolink:NamedThing mucous acinus The secretory unit of a mucous gland. The acinar portion is composed of mucous secreting cells. tmpxe7fu0cj_hp_relaxed.owl mucus acinus|acinus of mucuous gland FMA:86278 uberon owl:Class UBERON:0009842 biolink:NamedThing glandular acinus The many-lobed berry cluster of cells that is the terminous of a gland where the secretion is produced is acinar in form. tmpxe7fu0cj_hp_relaxed.owl acinus|acini Wikipedia:Acinus|FMA:55588 http://upload.wikimedia.org/wikipedia/commons/9/99/Gray1105.png uberon owl:Class acinar UBERON:0001170 biolink:NamedThing mesentery of small intestine The peritoneum responsible for connecting the jejunum and ileum (parts of the small intestine) to the back wall of the abdomen. Between the two sheets of peritoneum are blood vessels, lymph vessels, and nerves. This allows these parts of the small intestine to move relatively freely within the abdominopelvic cavity. The brain, however, cannot map sensation accurately, so sensation is usually referred to the midline, an example of referred pain[WP]. tmpxe7fu0cj_hp_relaxed.owl mesentery proper|small intestine mesentery|small intestinal mesentery|mesentery (proper) MA:0001555|FMA:14643|EMAPA:37745 uberon owl:Class HP:0010270 biolink:NamedThing Cone-shaped epiphyses of the proximal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the innermost hand bones UMLS:C4023931 doelkens 2009-07-06T04:25:12Z human_phenotype owl:Class HP:0010245 biolink:NamedThing Abnormality of the epiphyses of the proximal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the innermost hand bones UMLS:C4023954 doelkens 2009-07-06T04:21:32Z human_phenotype owl:Class HP:0011079 biolink:NamedThing Impacted tooth A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth). tmpxe7fu0cj_hp_relaxed.owl Retained tooth|Impacted tooth|Buried tooth SNOMEDCT_US:129263008|UMLS:C0040456|SNOMEDCT_US:235104008|UMLS:C4280338|MSH:D014095 peter 2011-03-11T10:18:55Z owl:Class HP:0000706 biolink:NamedThing Eruption failure A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential. tmpxe7fu0cj_hp_relaxed.owl Unerupted dentition|Failure of eruption of tooth|Pseudo-anodontia|Pseudoanodontia|Unerupted tooth UMLS:C1290587|SNOMEDCT_US:109542004 Usually a tooth erupts at a stage of half or two-thirds of root formation. There are established norms for the timing of eruption and tooth stages in both deciduous and permanent teeth. It may be difficult to discern Delayed eruption from failure of eruption: failure indicates it will never erupt, delayed indicates it may still erupt. Eruption failure may be caused by an isolated obstacle (supernumerary teeth), ankylosis of impacted teeth, or disturbances of biological eruption pathway. Partial or complete non-eruption of not initially ankylosed teeth due to a disturbed eruption mechanism result in a severe form of posterior open bite that usually worsens from anterior to posterior. Eruption failure is usually asymmetrical, affects more posterior teeth and both dentition may be involved. The diagnosis eruption failure requires clinical and radiographic examinations. owl:Class HP:0025699 biolink:NamedThing Perisylvian FDG hypermetabolism 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure. tmpxe7fu0cj_hp_relaxed.owl Perisylvian hypermetabolism in FDG PET peterrobinson owl:Class HP:0500180 biolink:NamedThing Abnormal circulating amino sulfonic acid concentration tmpxe7fu0cj_hp_relaxed.owl 2019-02-22 17:26:10+00:00 owl:Class PR:P05186 biolink:NamedThing alkaline phosphatase, tissue-nonspecific isozyme (human) An alkaline phosphatase, tissue-nonspecific isozyme that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl phosphocreatine phosphatase (human)|hALPL|AP-TNAP (human)|ALPL|alkaline phosphatase liver/bone/kidney isozyme (human)|TNSALP (human)|phosphoamidase (human)|TNS-ALP (human) UniProtKB:P05186 Category=organism-gene. protein owl:Class HP:0001069 biolink:NamedThing Episodic hyperhidrosis Intermittent episodes of abnormally increased perspiration. tmpxe7fu0cj_hp_relaxed.owl Sporadic excessive sweating|Hyperhidrosis, episodic UMLS:C1857171 human_phenotype owl:Class HP:0000975 biolink:NamedThing Hyperhidrosis Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. tmpxe7fu0cj_hp_relaxed.owl Increased sweating|Sweating|Diaphoresis|Sweating profusely|Sweating, increased|Profuse sweating|Excessive sweating MSH:D006945|UMLS:C0038990|SNOMEDCT_US:52613005|MEDDRA:10020642|SNOMEDCT_US:415690000|UMLS:C0700590|SNOMEDCT_US:364538006|SNOMEDCT_US:161857006|SNOMEDCT_US:415691001|SNOMEDCT_US:312230002|UMLS:C0020458|MSH:D013546 The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. HP:0007424|HP:0001011|HP:0001064 owl:Class GO:0031452 biolink:NamedThing negative regulation of heterochromatin assembly Any process that stops, prevents, or reduces the frequency, rate or extent of heterochromatin formation. tmpxe7fu0cj_hp_relaxed.owl down regulation of heterochromatin formation|negative regulation of heterochromatin formation|inhibition of heterochromatin formation|down-regulation of heterochromatin formation|downregulation of heterochromatin formation biological_process owl:Class GO:0120262 biolink:NamedThing negative regulation of heterochromatin organization Any process that stops, prevents, or reduces the frequency, rate or extent of heterochromatin organization. tmpxe7fu0cj_hp_relaxed.owl inhibition of heterochromatin organization|downregulation of heterochromatin organization|down-regulation of heterochromatin organization|down regulation of heterochromatin organization https://github.com/geneontology/go-ontology/issues/20020 krc 2020-09-29T20:12:30Z biological_process owl:Class GO:0045259 biolink:NamedThing proton-transporting ATP synthase complex A proton-transporting two-sector ATPase complex that catalyzes the phosphorylation of ADP to ATP during oxidative phosphorylation. The complex comprises a membrane sector (F0) that carries out proton transport and a cytoplasmic compartment sector (F1) that catalyzes ATP synthesis by a rotational mechanism; the extramembrane sector (containing 3 a and 3 b subunits) is connected via the d-subunit to the membrane sector by several smaller subunits. Within this complex, the g and e subunits and the 9-12 c subunits rotate by consecutive 120 degree angles and perform parts of ATP synthesis. This movement is driven by the hydrogen ion electrochemical potential gradient. tmpxe7fu0cj_hp_relaxed.owl hydrogen-transporting ATP synthase complex|F1-F0 complex|proton-transporting F-type ATPase complex|hydrogen-translocating F-type ATPase complex GO:0045255 cellular_component owl:Class GO:0016469 biolink:NamedThing proton-transporting two-sector ATPase complex A large protein complex that catalyzes the synthesis or hydrolysis of ATP by a rotational mechanism, coupled to the transport of protons across a membrane. The complex comprises a membrane sector (F0, V0, or A0) that carries out proton transport and a cytoplasmic compartment sector (F1, V1, or A1) that catalyzes ATP synthesis or hydrolysis. Two major types have been characterized: V-type ATPases couple ATP hydrolysis to the transport of protons across a concentration gradient, whereas F-type ATPases, also known as ATP synthases, normally run in the reverse direction to utilize energy from a proton concentration or electrochemical gradient to synthesize ATP. A third type, A-type ATPases have been found in archaea, and are closely related to eukaryotic V-type ATPases but are reversible. tmpxe7fu0cj_hp_relaxed.owl hydrogen-transporting two-sector ATPase complex|vacuolar hydrogen-transporting ATPase cellular_component owl:Class HP:0010944 biolink:NamedThing Abnormal renal pelvis morphology An abnormality of the renal pelvis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the renal pelvis UMLS:C4023633 peter 2011-01-16T03:33:55Z human_phenotype owl:Class UBERON:0009857 biolink:NamedThing cavum septum pellucidum A space enclosed within the laminae of the septum pelludicum, the membranous partition that seperates the frontal horns of the ventricle. contains cerebrospinal fluid (CSF) that filters from the ventricles through the septal laminae. bounded anteriorly by the genu of the corpus callosum; superiorly by the body of the corpus callosum; posteriorly by the anterior limb and pillars of the fornix; inferiorly by the anterior commissure and the rostrum of the corpus callosum; and laterally by the leaflets of the septum pellucidum. tmpxe7fu0cj_hp_relaxed.owl septum pellucidum cave|ventriculus septi pellucidi|fifth ventricle|cave of septum pellucidum|cavum of septum pellucidum|cavum septi pellucidi FMA:61874|UMLS:C0228158|BAMS:CSP|DHBA:12099|BTO:0003447|NCIT:C32602 http://upload.wikimedia.org/wikipedia/commons/7/7d/CavumSeptumPellucidumDiagram.jpg uberon owl:Class In humans, present in 100% of fetuses, but over 85% of them fuse by 3-6 months after birth HP:0009425 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 3rd finger Uneven (irregular) increase in bone density of the distal phalanx of the third finger. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the outermost bone of the 3rd finger UMLS:C4024371 doelkens 2009-01-14T03:16:46Z human_phenotype owl:Class HP:0100901 biolink:NamedThing Sclerosis of the distal phalanx of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the outermost bone of the middle finger UMLS:C4021941 human_phenotype owl:Class HP:0006904 biolink:NamedThing Late-onset spinocerebellar degeneration tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856604 human_phenotype owl:Class GO:0019867 biolink:NamedThing outer membrane The external membrane of Gram-negative bacteria or certain organelles such as mitochondria and chloroplasts; freely permeable to most ions and metabolites. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0020157 biolink:NamedThing Thin zona pellucida Reduced thickness of the zona pellucida. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-06 18:52:13+00:00 owl:Class HP:0020156 biolink:NamedThing Abnormal zona pellucida morphology Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida. tmpxe7fu0cj_hp_relaxed.owl During mammalian fertilization, sperm need to reach the cumulus-oocyte complex, get through the hyaluronic matrix of the cumulus and penetrate the zona pellucida (ZP) in order to fuse with the egg. robinp 2019-07-06 18:49:23+00:00 owl:Class GO:0048389 biolink:NamedThing intermediate mesoderm development The process whose specific outcome is the progression of the intermediate mesoderm over time, from its formation to the mature structure. The intermediate mesoderm is located between the lateral mesoderm and the paraxial mesoderm. It develops into the kidney and gonads. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0007498 biolink:NamedThing mesoderm development The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CL:0000669 biolink:NamedThing pericyte cell An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. tmpxe7fu0cj_hp_relaxed.owl ARC|pericyte of Rouget|adventitial reticular cell|pericyte|adventitial cell|cell of Rouget FMA:63174|BTO:0002441 Pericytes are CD10-positive, CD13-positive, CD31-negative, CD45-negative, CD106-positive, CD117-negative, CD140-positive, CD144-negative, CD146-positive, CD271-positive, CD325-positive, NG2-positive, RGS5-positive, SMA-positive, and desmin-positive. A subpopulation is CD248-positive. They are also capable of producing angiopoietin 1, CXCL12, TGF-beta, and VEGF-A. CL:0000184 cell owl:Class CL:0000183 biolink:NamedThing contractile cell A cell whose primary function is to shorten. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class UBERON:0003963 biolink:NamedThing otic ganglion The ganglion that supplies nerve fibers to the parotid gland. tmpxe7fu0cj_hp_relaxed.owl ganglion oticum|otic parasympathetic ganglion|Arnold's ganglion FMA:6967|EHDAA:6706|EMAPA:36274|BAMS:GoIX|EHDAA2:0001335 http://upload.wikimedia.org/wikipedia/commons/6/64/Gray783.png uberon owl:Class GO:1905485 biolink:NamedThing positive regulation of motor neuron migration Any process that activates or increases the frequency, rate or extent of motor neuron migration. tmpxe7fu0cj_hp_relaxed.owl up regulation of motor neuron migration|upregulation of motor neuron migration|activation of motor neuron migration|up-regulation of motor neuron migration hbye 2016-09-23T12:50:19Z biological_process owl:Class NBO:0000598 biolink:NamedThing dystonia "A locomotory disorder in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures." [wikipedia:Dystonia] HP:0001332|MP:0005323 tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T01:24:20Z George Gkoutos behavior_ontology owl:Class UBERON:0010576 biolink:NamedThing manual digit 2 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit 2 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl fore limb digit 2 phalanx pre-cartilage condensation|hand digit 2 phalanx pre-cartilage condensation|manual digit II phalanx pre-cartilage condensation EMAPA:17717|EHDAA2:0000522 uberon owl:Class UBERON:0015026 biolink:NamedThing manual digit 2 phalanx endochondral element A manual digit 2 phalanx bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl manual digit II phalanx endochondral element|manual digit 2 phalanx element|manual digit 2 phalanx skeletal element uberon owl:Class GO:0060945 biolink:NamedThing cardiac neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron of the heart. tmpxe7fu0cj_hp_relaxed.owl heart neuron differentiation dph 2009-09-29T02:45:33Z biological_process owl:Class CHEBI:22723 biolink:NamedThing benzoic acids Any aromatic carboxylic acid that consists of benzene in which at least a single hydrogen has been substituted by a carboxy group. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:33859 biolink:NamedThing aromatic carboxylic acid Any carboxylic acid in which the carboxy group is directly bonded to an aromatic ring. tmpxe7fu0cj_hp_relaxed.owl aromatic carboxylic acids CHEBI:13817|CHEBI:13821|CHEBI:2830 chebi_ontology owl:Class UBERON:0012274 biolink:NamedThing columnar epithelium An epithelium that consists of columnar epithelial cells. Columnar epithelia are epithelial cells whose heights are at least four times their width. Columnar epithelia are divided into simple (or unilayered), and the rarer stratified (or multi-layered).[WP, modified]. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Columnar_epithelium uberon owl:Class GO:0031347 biolink:NamedThing regulation of defense response Any process that modulates the frequency, rate or extent of a defense response. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0080134 biolink:NamedThing regulation of response to stress Any process that modulates the frequency, rate or extent of a response to stress. Response to stress is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpxe7fu0cj_hp_relaxed.owl Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. dhl 2009-05-06T04:51:28Z biological_process owl:Class HP:0030907 biolink:NamedThing Thunderclap headache Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days. tmpxe7fu0cj_hp_relaxed.owl The differential diagnosis of thunderclap headache (TCH) includes subarachnoid hemorrhage, ischemic stroke, cerebral venous thrombosis, cervical arterial dissection, acute hypertensive crisis, retroclival hematoma, pituitary apoplexy, and pheochromocytoma. owl:Class HP:0002315 biolink:NamedThing Headache Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. tmpxe7fu0cj_hp_relaxed.owl Headaches|Headache UMLS:C0018681|MSH:D006261|SNOMEDCT_US:25064002 Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. HP:0001354|HP:0000266 human_phenotype owl:Class HP:0012439 biolink:NamedThing Abnormal biliary tract physiology A functional abnormality of the biliary tree. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022902 peter 2013-11-23T02:14:51Z human_phenotype owl:Class HP:0001080 biolink:NamedThing Biliary tract abnormality An abnormality of the biliary tree. tmpxe7fu0cj_hp_relaxed.owl Biliary tract disease SNOMEDCT_US:105997008|UMLS:C0549613|MSH:D001660|UMLS:C0005424 human_phenotype owl:Class NBO:0000265 biolink:NamedThing personality disorder HP:0000751 tmpxe7fu0cj_hp_relaxed.owl 2011-04-04T08:59:01Z (http://www.cliffsnotes.com/study_guide/Classifying-Psychological-Disorders.topicArticleId-25438,articleId-25396.html). George Gkoutos behavior_ontology owl:Class HP:0008994 biolink:NamedThing Proximal muscle weakness in lower limbs A lack of strength of the proximal muscles of the legs. tmpxe7fu0cj_hp_relaxed.owl Muscle weakness, proximal, lower limbs UMLS:C1866010 HP:0008941|HP:0002455 human_phenotype owl:Class HP:0003690 biolink:NamedThing Limb muscle weakness Reduced strength and weakness of the muscles of the arms and legs. tmpxe7fu0cj_hp_relaxed.owl Limb weakness|Limb muscle weakness UMLS:C0587246|SNOMEDCT_US:713514005 HP:0002534 human_phenotype owl:Class HP:0006289 biolink:NamedThing Agenesis of central incisor Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor. tmpxe7fu0cj_hp_relaxed.owl Missing central incisors|Absent central incisor|Failure of development of central incisor|Absent central incisors UMLS:C1855000|UMLS:C4020819 HP:0006320 human_phenotype owl:Class HP:0006485 biolink:NamedThing Agenesis of incisor Agenesis of incisor. tmpxe7fu0cj_hp_relaxed.owl Absence of incisors|Absence of front tooth|Missing incisors|Missing front tooth|Failure of development of incisor UMLS:C4020816|UMLS:C4020815|UMLS:C4083290 Failure of one or more incisors to develop. peter 2008-03-28T05:49:00Z human_phenotype owl:Class PR:000001022 biolink:NamedThing neural cell adhesion molecule A protein with a domain composition consisting of a large extracellular domain, including five Ig-like C2-type domains followed by two copies of the Fibronectin type-III domain (Pfam:PF00041), a single-pass transmembrane domain and a short cytoplasmic C-terminal domain. tmpxe7fu0cj_hp_relaxed.owl PIRSF:PIRSF002507 Category=family. protein owl:Class GO:2000670 biolink:NamedThing positive regulation of dendritic cell apoptotic process Any process that activates or increases the frequency, rate or extent of dendritic cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of dendritic cell apoptosis pr 2011-05-09T07:34:26Z biological_process owl:Class UBERON:0014507 biolink:NamedThing distal interphalangeal joint of pedal digit 3 A distal inter-phalangeal joint that is part of the 3rd pedal digit. tmpxe7fu0cj_hp_relaxed.owl distal interphalangeal joint of third toe|equine distal interphalangeal joint of hindlimb|distal interphalangeal joint of third digit of foot|hindlimb coffin joint|distal interphalangeal joint of pedal digit III FMA:35375 uberon owl:Class UBERON:0004503 biolink:NamedThing skeletal muscle tissue of digastric A portion of skeletal muscle tissue that is part of a digastric [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:261872 uberon owl:Class GO:0060143 biolink:NamedThing positive regulation of syncytium formation by plasma membrane fusion Any process that increases the frequency, rate or extent of the formation of a syncytium, a mass of cytoplasm containing several nuclei enclosed within a single plasma membrane, by the fusion of the plasma membranes of two or more individual cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0022357 biolink:NamedThing mesentery of ileum tmpxe7fu0cj_hp_relaxed.owl mesoileum|ileal mesentery|ileum mesentery FMA:14652 uberon owl:Class BFO:0000015 biolink:NamedThing process An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:1905278 biolink:NamedThing positive regulation of epithelial tube formation Any process that activates or increases the frequency, rate or extent of epithelial tube formation. tmpxe7fu0cj_hp_relaxed.owl activation of epithelial tube formation|up regulation of epithelial tube formation|up-regulation of epithelial tube formation|upregulation of epithelial tube formation An example of this is MMRN2 in human (Q9H8L6) in PMID:25745997 (inferred from direct assay). bhm 2016-06-20T09:35:57Z biological_process owl:Class GO:1905276 biolink:NamedThing regulation of epithelial tube formation Any process that modulates the frequency, rate or extent of epithelial tube formation. tmpxe7fu0cj_hp_relaxed.owl An example of this is MMRN2 in human (Q9H8L6) in PMID:25745997 (inferred from direct assay). bhm 2016-06-20T09:35:41Z biological_process owl:Class CHEBI:41808 biolink:NamedThing decane A straight-chain alkane with 10 carbon atoms. tmpxe7fu0cj_hp_relaxed.owl decane|CH3-[CH2]8-CH3|n-Dekan|Dekan|n-decane|DECANE 0 C10H22 InChI=1S/C10H22/c1-3-5-7-9-10-8-6-4-2/h3-10H2,1-2H3 DIOQZVSQGTUSAI-UHFFFAOYSA-N 142.28168 142.17215 CCCCCCCCCC PDBeChem:D10|Gmelin:67816|HMDB:HMDB0031450|Wikipedia:Decane|LIPID_MAPS_instance:LMFA11000568|CAS:124-18-5|Reaxys:1696981|PMID:11762597|MetaCyc:CPD-9287|DrugBank:DB02826|Beilstein:1696981 CHEBI:32894|CHEBI:41801 chebi_ontology owl:Class HP:0040182 biolink:NamedThing Inappropriate sinus tachycardia Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:425582007|UMLS:C1881170 owl:Class HP:0011703 biolink:NamedThing Sinus tachycardia Heart rate of greater than 100 beats per minute. tmpxe7fu0cj_hp_relaxed.owl Sinus tachy|Sinus tach MSH:D013616|UMLS:C0039239|SNOMEDCT_US:11092001 peter 2012-04-10T11:30:45Z human_phenotype owl:Class GO:0072506 biolink:NamedThing trivalent inorganic anion homeostasis Any process involved in the maintenance of an internal steady state of trivalent inorganic anions within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl Note that this term was split from 'di-, tri-valent inorganic anion homeostasis ; GO:0055061' (sibling term 'divalent inorganic anion homeostasis' ; GO:0072505'). mah 2010-12-16T01:39:39Z biological_process owl:Class UBERON:0004268 biolink:NamedThing lower arm connective tissue A portion of connective tissue that is part of a lower arm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl MA:0000599|EMAPA:37319 uberon owl:Class GO:1903350 biolink:NamedThing response to dopamine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dopamine stimulus. tmpxe7fu0cj_hp_relaxed.owl mr 2014-08-19T19:33:26Z biological_process owl:Class UBERON:0018645 biolink:NamedThing incisor region of dentition The subdivision of the dentition that consists entire of incisor teeth. tmpxe7fu0cj_hp_relaxed.owl set of incisors uberon owl:Class HP:0040323 biolink:NamedThing Erythema of the eyelids Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin. tmpxe7fu0cj_hp_relaxed.owl Eyelid erythema|Erythema of eyelid owl:Class CL:0000158 biolink:NamedThing club cell Epithelial progenitor cell of the lung. Club cells are dome-shaped with short microvilli but no cilia. They function to protect the bronchiolar epithelium. Club cells also multiply and differentiate into ciliated cells to regenerate the bronchiolar epithelium. tmpxe7fu0cj_hp_relaxed.owl Clara cell|club cell of bronchiole|bronchiolar non-ciliated cell BTO:0004811|FMA:14119 cell owl:Class CL:0002328 biolink:NamedThing bronchial epithelial cell An epithelial cell of the bronchus. tmpxe7fu0cj_hp_relaxed.owl BTO:0002922 tmeehan 2010-09-20T02:00:00Z cell owl:Class HP:0100169 biolink:NamedThing Absent epiphysis of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the outermost bone of the 4th toe UMLS:C4022252 doelkens 2010-06-24T04:53:36Z human_phenotype owl:Class HP:0100094 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the outermost bone of the 4th toe UMLS:C4022327 doelkens 2010-06-24T10:02:24Z human_phenotype owl:Class GO:0008544 biolink:NamedThing epidermis development The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. tmpxe7fu0cj_hp_relaxed.owl hypodermis development biological_process owl:Class GO:0009888 biolink:NamedThing tissue development The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl histogenesis and organogenesis|histogenesis Wikipedia:Histogenesis biological_process owl:Class CL:0000404 biolink:NamedThing electrically signaling cell A cell that initiates an electrical signal and passes that signal to another cell. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0008648 biolink:NamedThing Anteriorly displaced urethral meatus tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024648 human_phenotype owl:Class HP:0004898 biolink:NamedThing Persistent lactic acidosis A continuous form of lactic acidemia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3554538 human_phenotype owl:Class GO:0034067 biolink:NamedThing protein localization to Golgi apparatus A process in which a protein is transported to, or maintained in, a location within the Golgi apparatus. tmpxe7fu0cj_hp_relaxed.owl establishment of protein localisation to Golgi|protein-Golgi targeting|establishment of protein localization in Golgi|protein localization in Golgi apparatus|protein localisation in Golgi apparatus|establishment of protein localization to Golgi apparatus|establishment of protein localization to Golgi|protein targeting to Golgi mah 2011-02-14T02:26:36Z GO:0000042|GO:0072600 biological_process owl:Class HP:0008322 biolink:NamedThing Abnormal mitochondrial morphology Any structural anomaly of the mitochondria. tmpxe7fu0cj_hp_relaxed.owl Abnormal mitochondrion morphology UMLS:C4014650 This feature may be assessed by means of electron microscopy. human_phenotype owl:Class HP:0012103 biolink:NamedThing Abnormality of the mitochondrion An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. tmpxe7fu0cj_hp_relaxed.owl Mitochondrial abnormalities UMLS:C4020732|UMLS:C4023042 peter 2012-09-08T11:05:06Z human_phenotype owl:Class HP:0009839 biolink:NamedThing Osteolytic defects of the distal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Acroosteolysis of distal phalanges|Acro-osteolysis of distal phalanges|Osteolytic defects of the outermost finger bone of the hand UMLS:C1849547 doelkens 2009-03-11T12:10:11Z HP:0009865|HP:0001219 human_phenotype owl:Class HP:0033978 biolink:NamedThing Reduced beta-hexosaminidase activity Diminished activity of the enzyme beta-hexosaminidase in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2021-06-25 14:10:29+00:00 peter owl:Class PR:000001896 biolink:NamedThing natural killer cell receptor 2B4 A protein that is a translation product of the human CD244 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl NK cell activation-inducing ligand|CD244|NKR2B4|NAIL|non-MHC restricted killing associated|signaling lymphocytic activation molecule 4|SLAMF4|2B4|Nmrk|NK cell type I receptor protein 2B4|SLAM family member 4 Category=gene. Requested by=CL. protein owl:Class CHEBI:28384 biolink:NamedThing vitamin K Any member of a group of fat-soluble 2-methyl-1,4-napthoquinones that exhibit biological activity against vitamin K deficiency. Vitamin K is required for the synthesis of prothrombin and certain other blood coagulation factors. tmpxe7fu0cj_hp_relaxed.owl vitamine K|Vitamin K|vitamins K|vitamin K vitamer|vitamin K vitamers MetaCyc:CPD-11501|Wikipedia:Vitamin_K|PMID:33255760|PMID:34109217|KEGG:C01628|CAS:12001-79-5|PMID:26413183 CHEBI:27307|CHEBI:10009|CHEBI:27301 chebi_ontology owl:Class CHEBI:132142 biolink:NamedThing 1,4-naphthoquinones A naphthoquinone in which the oxo groups of the quinone moiety are at positions 1 and 4 of the parent naphthalene ring. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class UBERON:0005298 biolink:NamedThing skin of clitoris A zone of skin that is part of a clitoris [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl clitoris skin FMA:20168 uberon owl:Class HP:0100125 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the innermost bone of the 2nd toe UMLS:C4022296 doelkens 2010-06-24T10:06:29Z human_phenotype owl:Class HP:0100090 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the innermost bone of the 2nd toe UMLS:C4022331 doelkens 2010-06-24T10:01:42Z human_phenotype owl:Class HP:0040024 biolink:NamedThing Clinodactyly of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl Curvature of middle finger UMLS:C4280296|UMLS:C4022485 HPO:skoehler owl:Class HP:0009317 biolink:NamedThing Deviation of the 3rd finger Displacement of the 3rd finger from its normal position. tmpxe7fu0cj_hp_relaxed.owl Deviated middle finger UMLS:C4021493 doelkens 2009-01-12T11:02:27Z HP:0004152 human_phenotype owl:Class UBERON:0002016 biolink:NamedThing pulmonary vein Pulmonary veins are blood vessels that transport blood from the lungs to the heart[GO]. tmpxe7fu0cj_hp_relaxed.owl venae pulmonales|pulmonary venous tree organ part galen:PulmonaryVein|XAO:0000394|AAO:0010521|VHOG:0001133|MESH:D011667|EHDAA:2629|MA:0002206|Wikipedia:Pulmonary_vein|GAID:543|UMLS:C0034090|NCIT:C12776|CALOHA:TS-0840|BTO:0001799|FMA:66643|SCTID:430160002|EMAPA:18645|EHDAA2:0001579 Alveoli:diagram.png uberon owl:Class Any of the veins which collect blood from the lungs and some small vesicles received from the esophagus.[AAO]|the veins that return oxygenated blood from the lungs to the left atrium of the heart|One of two pairs of large vessels that return oxygenated blood from each lung to the left atrium of the heart. [TFD][VHOG] On the other hand, in the sister clade of the actinopterygians, the sarcopterygians, the gill circulation is supplemented with lung ventilation. As a result, the pulmonary artery and vein and a functional ductus arteriosus arose as a major evolutionary innovation from the sixth arch, giving the organism a flexible shunt to balance blood supply to and from gills and lungs according to environmental conditions.[well established][VHOG] HP:0012405 biolink:NamedThing Hypocitraturia A lower than normal concentration of citrate(3-) in the urine. tmpxe7fu0cj_hp_relaxed.owl Decreased urine citrate concentration UMLS:C2673444 peter 2013-11-09T03:54:41Z human_phenotype owl:Class HP:0012404 biolink:NamedThing Abnormal urine citrate concentration A deviation from normal of the concentration of citrate(3-) in the urine. tmpxe7fu0cj_hp_relaxed.owl Abnormal urine citric acid concentration|Abnormal urine citrate concentration UMLS:C4022913 peter 2013-11-09T03:51:30Z human_phenotype owl:Class HP:0031938 biolink:NamedThing Abnormal conus terminalis morphology Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae). tmpxe7fu0cj_hp_relaxed.owl Abnormal conus medullaris morphology 2018-07-05 13:09:44+00:00 The tapering end of the conus terminalis continues as the filum terminale. peter owl:Class HP:0002143 biolink:NamedThing Abnormality of the spinal cord An abnormality of the spinal cord (myelon). tmpxe7fu0cj_hp_relaxed.owl Spinal cord disease|Spinal cord pathology|Abnormality of the spinal cord UMLS:C4025722|MSH:D013118|SNOMEDCT_US:48522003|UMLS:C0037928 owl:Class GO:1905936 biolink:NamedThing regulation of germ cell proliferation Any process that modulates the frequency, rate or extent of germ cell proliferation. tmpxe7fu0cj_hp_relaxed.owl hbye 2017-02-09T14:51:31Z biological_process owl:Class HP:0032790 biolink:NamedThing Focal impaired awareness behavior arrest seizure A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal impaired awareness behaviour arrest seizure peter owl:Class HP:0011173 biolink:NamedThing Focal behavior arrest seizure A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl Hypokinetic seizure|Partial seizure with behavior arrest|Partial hypokinetic seizure|Localised seizure with behavioural arrest|Hypokinetic seizures|Focal hypokinetic seizure|Localized seizure with behavioral arrest|Focal behaviour arrest seizure|Partial seizure with behaviour arrest UMLS:C4023498 The word 'focal' is explicit in the term title to emphasise the difference between these seizures and absence (generalised non-motor) seizures. Because brief behavior arrest is common and difficult to identify at the start of many seizures, the arrest must be persistent and dominant through the entire seizure. If the patient is able to identify that fear is the primary onset feature of the seizure, and results in immobility, the seizure is a focal emotional seizure with fear, and the immobility is then considered a descriptive feature, due to the fear. If the focal seizure is not characterized by this feature at the very outset of the seizure, it is not used to classify the seizure, it is instead used as a seizure descriptor, after the seizure is classified according to its onset feature. hecht 2011-11-19T10:12:04Z owl:Class UBERON:0034948 biolink:NamedThing carbon dioxide in respiratory system Any portion of gas located in a part of the respiratory system that is composed primarily of carbon dioxide. tmpxe7fu0cj_hp_relaxed.owl respiratory CO2|respiratory system CO2 uberon owl:Class UBERON:0034947 biolink:NamedThing gas in respiratory system Any portion of gas located in a part of the respiratory system. tmpxe7fu0cj_hp_relaxed.owl respiratory system gas|respiratory gas uberon owl:Class HP:0011467 biolink:NamedThing Absent gallbladder A developmental defect in which the gallbladder fails to form. tmpxe7fu0cj_hp_relaxed.owl Agenesis of the gallbladder|Absent gallbladder|Aplasia of the gallbladder SNOMEDCT_US:86507001|MSH:C562564|UMLS:C0266251 peter 2012-03-25T07:41:14Z human_phenotype owl:Class GO:0015849 biolink:NamedThing organic acid transport The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0005705 biolink:NamedThing primary palate mesenchyme Mesenchyme that is part of a developing primary palate. tmpxe7fu0cj_hp_relaxed.owl EHDAA:6968|EHDAA2:0001501|VHOG:0001024|EMAPA:17644 uberon owl:Class UBERON:0004424 biolink:NamedThing proximal epiphysis of third metacarpal bone A proximal epiphysis that is part of a metacarpal bone of digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of third metacarpal bone|proximal end of third metacarpal bone|third metacarpal bone base|proximal epiphysis of metacarpal 3 FMA:42794 uberon owl:Class HP:0008771 biolink:NamedThing Aplasia/Hypoplasia of the ear The presence of aplasia or developmental hypoplasia of the ear. tmpxe7fu0cj_hp_relaxed.owl Absent/small ear|Absent/underdeveloped ear UMLS:C4024627 peter 2008-04-04T05:44:00Z human_phenotype owl:Class HP:0031703 biolink:NamedThing Abnormal ear morphology Any structural anomaly of the ear. tmpxe7fu0cj_hp_relaxed.owl 2017-12-18 00:20:14+00:00 Fyler:4867 peter owl:Class UBERON:0006285 biolink:NamedThing pubic pre-cartilage condensation A pubic endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl VHOG:0000965|EHDAA:9572|EMAPA:18349|EHDAA2:0001574 uberon owl:Class GO:0016528 biolink:NamedThing sarcoplasm The cytoplasm of a muscle cell; includes the sarcoplasmic reticulum. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Sarcoplasm cellular_component owl:Class HP:0410349 biolink:NamedThing Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level. tmpxe7fu0cj_hp_relaxed.owl owl:Class OBO:CARO_0030000 biolink:NamedThing biological entity tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0002677 biolink:NamedThing negative regulation of chronic inflammatory response Any process that stops, prevents, or reduces the frequency, rate, or extent of a chronic inflammatory response. tmpxe7fu0cj_hp_relaxed.owl down-regulation of chronic inflammatory response|downregulation of chronic inflammatory response|down regulation of chronic inflammatory response|inhibition of chronic inflammatory response biological_process owl:Class GO:0050728 biolink:NamedThing negative regulation of inflammatory response Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. tmpxe7fu0cj_hp_relaxed.owl inhibition of inflammatory response|down-regulation of inflammatory response|downregulation of inflammatory response|anti-inflammatory response|down regulation of inflammatory response GO:0030236 biological_process owl:Class GO:0048523 biolink:NamedThing negative regulation of cellular process Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpxe7fu0cj_hp_relaxed.owl down regulation of cellular process|downregulation of cellular process|inhibition of cellular process|down-regulation of cellular process|negative regulation of cellular physiological process GO:0051243 biological_process owl:Class GO:0007320 biolink:NamedThing insemination The introduction of semen or sperm into the genital tract of a female. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Insemination biological_process owl:Class HP:0010017 biolink:NamedThing Cone-shaped epiphysis of the 1st metacarpal A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the 1st long bone of hand UMLS:C4024106 doelkens 2009-05-27T04:02:50Z human_phenotype owl:Class HP:0010014 biolink:NamedThing Abnormality of the epiphysis of the 1st metacarpal In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the 1st long bone of hand UMLS:C4024109 doelkens 2009-05-27T03:43:11Z human_phenotype owl:Class GO:0090150 biolink:NamedThing establishment of protein localization to membrane The directed movement of a protein to a specific location in a membrane. tmpxe7fu0cj_hp_relaxed.owl establishment of protein localization in membrane|establishment of protein localisation in membrane tb 2009-12-08T03:18:51Z biological_process owl:Class UBERON:0016490 biolink:NamedThing auditory system Is the sensory system for the sense of hearing. tmpxe7fu0cj_hp_relaxed.owl MA:0002443|UMLS:C0587901|OpenCyc:Mx4rvViwtJwpEbGdrcN5Y29ycA|FMA:7192|Wikipedia:Auditory_system|NCIT:C12889|EMAPA:36002|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2888|NLXANAT:090817 uberon owl:Class Auditory system is general anatomical term in FMA UBERON:0007037 biolink:NamedThing mechanosensory system tmpxe7fu0cj_hp_relaxed.owl BILA:0000142 uberon owl:Class UBERON:0000087 biolink:NamedThing inner cell mass A mass of cells that develop into the body of the embryo and some extraembryonic tissues. tmpxe7fu0cj_hp_relaxed.owl early embryoblast|pluriblast|ICM|embryoblast|embryoblastus; massa cellularis interna; pluriblastus senior EMAPA:16041|EHDAA2:0000830|VHOG:0000742|NCIT:C13740|EHDAA:40|FMA:86557|EFO:0000547|UMLS:C1283994 Blastocyst:English.svg uberon owl:Class A group of cells found in the mammalian blastocyst that give rise to the embryo. [Biology_Online][VHOG] A small sphere of cells known as the inner cell mass lies within the trophoblast (of all eutherian mammals).[well established][VHOG] This structure forms in the earliest steps of development, before implantation into the endometrium of the uterus has occurred.The ICM lies within the blastocyst cavity and is entirely surrounded by the single layer of cells called trophoblast. [Wikipedia:Inner_cell_mass] PATO:0001623 biolink:NamedThing atrophied A size quality inhering in a bearer by virtue of a part or parts of the bearer's being decreased in size due to reduction in tissue mass through wasting. tmpxe7fu0cj_hp_relaxed.owl atrophic quality owl:Class PATO:0000587 biolink:NamedThing decreased size A size quality which is relatively low. tmpxe7fu0cj_hp_relaxed.owl hypoplasia|small|underdeveloped|tiny|reduced quality owl:Class GO:0022612 biolink:NamedThing gland morphogenesis The process in which the anatomical structures of a gland are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0045765 biolink:NamedThing regulation of angiogenesis Any process that modulates the frequency, rate or extent of angiogenesis. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1901342 biolink:NamedThing regulation of vasculature development Any process that modulates the frequency, rate or extent of vasculature development. tmpxe7fu0cj_hp_relaxed.owl regulation of vascular system development bf 2012-09-06T09:16:15Z biological_process owl:Class HP:0000455 biolink:NamedThing Broad nasal tip Increase in width of the nasal tip. tmpxe7fu0cj_hp_relaxed.owl Increased width of nasal tip|Broad tip of nose|Broad upturned nose|Wide tip of nose|Increased breadth of tip of nose|Increased breadth of nasal tip|Increased width of tip of nose|Nasal tip, broad|Broad, upturned nose|Nasal tip, wide|Broad nasal tip SNOMEDCT_US:249327002|UMLS:C0426429 Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term. HP:0004501|HP:0005269 human_phenotype owl:Class HP:0000463 biolink:NamedThing Anteverted nares Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). tmpxe7fu0cj_hp_relaxed.owl Anteverted nose|Upturned nares|Upturned nose|Upturned nasal tip|Anteverted nostrils|Upturned nasal tips|Nasal tip, upturned|Nostrils anteverted|Upturned nostrils UMLS:C1840077|SNOMEDCT_US:708670007 The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. HP:0000435|HP:0000441|HP:0000427 human_phenotype owl:Class HP:0011598 biolink:NamedThing Right aortic arch with retroesophageal left subclavian artery tmpxe7fu0cj_hp_relaxed.owl Right aortic arch with aberrant left subclavian artery|Right aortic arch with anomalous left subclavian artery UMLS:C4021140 peter 2012-04-08T02:27:16Z human_phenotype owl:Class HP:0012020 biolink:NamedThing Right aortic arch Aorta descends on right instead of on the left. tmpxe7fu0cj_hp_relaxed.owl Right-sided aortic arch SNOMEDCT_US:244229003|Fyler:2720|SNOMEDCT_US:111321007|UMLS:C0035615 The are several types of right aortic arch (RAA). RAA can recognized radiographically by leftward displacement of barium-filled esophagus or of an air-filled trachea. The aortic knob is absent from left side, and the para-aortic stripe returns to left side of spine just above diaphragm. peter 2012-07-26T09:25:32Z human_phenotype owl:Class HP:0004840 biolink:NamedThing Hypochromic microcytic anemia A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. tmpxe7fu0cj_hp_relaxed.owl Hypochromic, microcytic anaemia|Hypochromic microcytic anaemia|Hypochromic, microcytic anemia SNOMEDCT_US:44666001|UMLS:C0271901|MSH:C536357 HP:0004842 human_phenotype owl:Class HP:0001931 biolink:NamedThing Hypochromic anemia A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. tmpxe7fu0cj_hp_relaxed.owl Hypochromic anaemia MSH:D000747|UMLS:C0002884|SNOMEDCT_US:44452003 The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic). human_phenotype owl:Class HP:0002821 biolink:NamedThing Neuropathic arthropathy tmpxe7fu0cj_hp_relaxed.owl Charcot joint|Charcot arthropathy UMLS:C0003892|MSH:D001177|SNOMEDCT_US:359554008|SNOMEDCT_US:67536000 human_phenotype owl:Class HP:0003040 biolink:NamedThing Arthropathy tmpxe7fu0cj_hp_relaxed.owl Disease of the joints UMLS:C0022408|MSH:D007592|SNOMEDCT_US:399269003 human_phenotype owl:Class GO:0048730 biolink:NamedThing epidermis morphogenesis The process in which the anatomical structures of the epidermis are generated and organized. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. tmpxe7fu0cj_hp_relaxed.owl hypodermis morphogenesis biological_process owl:Class GO:0002009 biolink:NamedThing morphogenesis of an epithelium The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. tmpxe7fu0cj_hp_relaxed.owl epithelium morphogenesis biological_process owl:Class GO:0002244 biolink:NamedThing hematopoietic progenitor cell differentiation The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. tmpxe7fu0cj_hp_relaxed.owl haematopoietic progenitor cell differentiation|haemopoietic progenitor cell differentiation|hemopoietic progenitor cell differentiation biological_process owl:Class HP:0000339 biolink:NamedThing Pugilistic facies Coarse facial features reminiscent of those of a boxer. tmpxe7fu0cj_hp_relaxed.owl Pugilistic facial appearance|Boxer-like facial appearance UMLS:C1846011 human_phenotype owl:Class HP:0000280 biolink:NamedThing Coarse facial features Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. tmpxe7fu0cj_hp_relaxed.owl Thickened facial skin with coarse facial features|Coarse facial appearance|Coarse facies|Coarse face|Rounded and heavy facial features|Coarse facial features UMLS:C4072825|UMLS:C1845847 HP:0000281|HP:0004640 human_phenotype owl:Class HP:0002162 biolink:NamedThing Low posterior hairline Hair on the neck extends more inferiorly than usual. tmpxe7fu0cj_hp_relaxed.owl Low hairline at back of neck|Low posterior hair line UMLS:C1855728 This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately. owl:Class GO:0036230 biolink:NamedThing granulocyte activation The change in morphology and behavior of a granulocyte resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. tmpxe7fu0cj_hp_relaxed.owl bf 2012-05-11T10:57:48Z biological_process owl:Class GO:1904397 biolink:NamedThing negative regulation of neuromuscular junction development Any process that stops, prevents or reduces the frequency, rate or extent of neuromuscular junction development. tmpxe7fu0cj_hp_relaxed.owl down-regulation of neuromuscular junction stability|inhibition of neuromuscular junction stability|down-regulation of neuromuscular junction organization|negative regulation of neuromuscular junction stability|inhibition of neuromuscular junction development|downregulation of neuromuscular junction development|down-regulation of neuromuscular junction development|downregulation of neuromuscular junction stability|downregulation of neuromuscular junction organization|down regulation of neuromuscular junction development|downregulation of NMJ stability|down regulation of neuromuscular junction organization|inhibition of neuromuscular junction organization|down regulation of neuromuscular junction stability|negative regulation of NMJ stability|down-regulation of NMJ stability|inhibition of NMJ stability|negative regulation of neuromuscular junction organization|down regulation of NMJ stability sl 2015-06-23T19:23:48Z biological_process owl:Class HP:0034143 biolink:NamedThing Anti-threonyl-tRNA synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase. tmpxe7fu0cj_hp_relaxed.owl Anti-PL-7 antibody positivity 2021-12-23 13:39:49+00:00 peter owl:Class UBERON:0004399 biolink:NamedThing epiphysis of fifth metatarsal bone An epiphysis that is part of a metatarsal bone of digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl fifth metatarsal bone epiphysis|metatarsal 5 epiphysis FMA:86315 uberon owl:Class HP:0003184 biolink:NamedThing Decreased hip abduction Reduced ability to move the femur outward to the side. tmpxe7fu0cj_hp_relaxed.owl Limited hip abduction UMLS:C1836589 human_phenotype owl:Class HP:0008800 biolink:NamedThing Limited hip movement A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. tmpxe7fu0cj_hp_relaxed.owl Limited hip movement UMLS:C1851542 human_phenotype owl:Class HP:0032913 biolink:NamedThing Focal aware pedal automatism seizure A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0004146 biolink:NamedThing His-Purkinje system The His-Purkinje system receives signals from the AV node and is composed of the fibers that regulate cardiac muscle contraction in the ventricles. tmpxe7fu0cj_hp_relaxed.owl VCS|His-Purkinji network|ventricular conduction system|HPS uberon owl:Class the intraventricular conduction system from the bundle of His to the distal Purkinje fibers, which carries the impulse to the ventricles. UBERON:0010131 biolink:NamedThing conducting tissue of heart Any portion of cardiac muscle tissue that is part of the conducting system of heart or the Purkinje fibers. tmpxe7fu0cj_hp_relaxed.owl specialized muscle tissue of heart|specialized conducting tissue of heart EHDAA2:0004528|FMA:83378 uberon owl:Class UBERON:0003442 biolink:NamedThing hindlimb nerve A nerve that is part of a hindlimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nerve of hindlimb|nerve of hind limb|hind limb nerve|nerve of lower extremity|nerve of inferior member EMAPA:37342|MA:0000664 uberon owl:Class HP:0040068 biolink:NamedThing Abnormality of limb bone tmpxe7fu0cj_hp_relaxed.owl Abnormality of limb bone UMLS:C4022456 HPO:skoehler owl:Class CHEBI:26650 biolink:NamedThing serine family amino acid An L-alpha-amino acid which is biosynthesised from 3-phosphoglycerate (i.e. serine, glycine, cysteine and homocysteine). A closed class. tmpxe7fu0cj_hp_relaxed.owl serine family amino acids|3-phosphoglycerate family amino acids|3-phosphoglycerate family amino acid PMID:20709681 chebi_ontology owl:Class CHEBI:83813 biolink:NamedThing proteinogenic amino acid Any of the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. Apart from glycine, which is non-chiral, all have L configuration. tmpxe7fu0cj_hp_relaxed.owl proteinogenic amino acids|canonical amino acids|canonical amino acid Wikipedia:Proteinogenic_amino_acid chebi_ontology owl:Class HP:0007968 biolink:NamedThing Remnants of the hyaloid vascular system Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. tmpxe7fu0cj_hp_relaxed.owl Persistent posterior foetal fibrovascular sheath of the lens|Persistent foetal vasculature|Congenital retinal septum|Persistent hyperplasia of primary vitreous|Persistent fetal vasculature|Persistent tunica vasculosa lentis|Persistent hyperplastic primary vitreous|Persistent hypertrophic primary vitreous|Persistent posterior fetal fibrovascular sheath of the lens SNOMEDCT_US:69927002|UMLS:C0266568|SNOMEDCT_US:44647001|SNOMEDCT_US:314270008|MSH:D054514 human_phenotype owl:Class HP:0004327 biolink:NamedThing Abnormal vitreous humor morphology Any structural anomaly of the vitreous body. tmpxe7fu0cj_hp_relaxed.owl Abnormal vitreous humour morphology UMLS:C4025356 The vitreous humor is the clear gel that fills the space between the lens and the retina. peter 2008-02-27T04:20:00Z human_phenotype owl:Class PATO:0002156 biolink:NamedThing laterally rotated A rotation quality inhering in a bearer by virtue of being rotated towards the side of an organism. tmpxe7fu0cj_hp_relaxed.owl externally rotated 2009-11-06T02:25:10Z quality owl:Class PATO:0001599 biolink:NamedThing rotated An oriented quality inhering in a bearer by virtue of the bearer's being relocated around an axis. tmpxe7fu0cj_hp_relaxed.owl rotation quality owl:Class GO:0001964 biolink:NamedThing startle response An action or movement due to the application of a sudden unexpected stimulus. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Startle_reaction biological_process owl:Class HP:0012507 biolink:NamedThing Weakness of orbicularis oculi muscle Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid. tmpxe7fu0cj_hp_relaxed.owl Weakness of orbicularis oculi muscles UMLS:C1839030 peter 2013-12-08T08:12:54Z human_phenotype owl:Class HP:0030319 biolink:NamedThing Weakness of facial musculature Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). tmpxe7fu0cj_hp_relaxed.owl Face weakness|Facial muscle weakness|Decreased strength of facial muscles|Myasthenia of facial muscles|Weakness of face|Facial weakness|Reduced facial muscle strength|Weakness of facial musculature|Decreased facial muscle strength UMLS:C4022514 owl:Class HP:0034029 biolink:NamedThing Hepatic foam cells The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver. tmpxe7fu0cj_hp_relaxed.owl 2021-09-24 12:01:44+00:00 peter owl:Class HP:0003651 biolink:NamedThing Foam cells The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. tmpxe7fu0cj_hp_relaxed.owl Foamy histiocytes|Presence of foam cells|Lipid-laden histiocytes|Foamy macrophages UMLS:C0016390|SNOMEDCT_US:16980002|MSH:D005487 Foam cells may contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy. HP:0003650 owl:Class UBERON:0012288 biolink:NamedThing centroquartal bone A tarsal bone that is formed from the fusion of the central and 4th tarsal bones. tmpxe7fu0cj_hp_relaxed.owl os naviculocuboideum|os centroquartale uberon owl:Class UBERON:0001447 biolink:NamedThing tarsal bone A bone that is part of the tarsal skeleton. Examples: calcaneus, talus, centralia. tmpxe7fu0cj_hp_relaxed.owl ankle bone|bone of tarsus|tarsal|ossa tarsi|bony tarsus|bone of ankle|hind mesopodium|tarsus osseus|bone of tarsal skeleton|ossa tarsalia GAID:194|MESH:A02.835.232.300.710|FMA:24491|galen:TarsalBone|BTO:0002343|NCIT:C12796|MA:0000297|EMAPA:25072|UMLS:C0039316 Ankle:en.svg uberon owl:Class In primitive tetrapods, such as Trematops, the tarsus consists of three rows of bones. There are three proximal tarsals, the tibiale, intermedium, and fibulare, named for their points of articulation with the bones of the lower limb. These are followed by a second row of four bones, referred to as the centralia (singular: centrale), and then a row of five distal tarsals, each articulating with a single metatarsal. In the great majority of tetrapods, including all of those alive today, this simple pattern is modified by the loss and fusion of various of the bones.[3] In reptiles and mammals, there are normally just two proximal tarsals, the calcaneus (equivalent to the amphibian fibulare) and the talus (probably derived from a fusion of multiple bones). In mammals, including humans, the talus forms a hinge joint with the tibia, a feature especially well developed in the artiodactyls. The calcaneus is also modified, forming a heel for the attachment of the Achilles tendon. Neither of these adaptations is found in reptiles, which have a relatively simple structure to both bones.[3] The fifth distal tarsal disappears relatively early in evolution, with the remainder becoming the cuneiform and cuboid bones. Reptiles usually retain two centralia, while mammals typically have only one (the navicular).[3] In birds, the tarsus has disappeared, with the proximal tarsals having fused with the tibia, the centralia having disappeared, and the distal bones having fused with the metatarsals to form a single tarsometatarsus bone, effectively giving the leg a third segment CL:0002503 biolink:NamedThing adventitial cell A cell of the adventitial layer of ductal structures such as the uterer, defent duct, biliary duct, etc tmpxe7fu0cj_hp_relaxed.owl BTO:0002441|FMA:84639 tmeehan 2010-12-07T04:03:56Z cell owl:Class GO:1904306 biolink:NamedThing positive regulation of gastro-intestinal system smooth muscle contraction Any process that activates or increases the frequency, rate or extent of gastro-intestinal system smooth muscle contraction. tmpxe7fu0cj_hp_relaxed.owl upregulation of gastro-intestinal system smooth muscle contraction|activation of gastro-intestinal system smooth muscle contraction|up-regulation of gastro-intestinal system smooth muscle contraction|up regulation of gastro-intestinal system smooth muscle contraction sl 2015-06-09T23:18:54Z biological_process owl:Class UBERON:0001064 biolink:NamedThing ventral pancreatic duct A duct joining the pancreas to the common bile duct to supply pancreatic juices which aid in digestion provided by the exocrine pancreas. The pancreatic duct joins the common bile duct just prior to the ampulla of Vater, after which both ducts perforate the medial side of the second portion of the duodenum at the major duodenal papilla. tmpxe7fu0cj_hp_relaxed.owl pancreatic duct|duct of Wirsung|main pancreatic duct|ductus pancreatis ventralis|chief pancreatic duct|canal of Wirsung|hepaticopancreatic duct RETIRED_EHDAA2:0002177|GAID:337|MESH:D010183|MA:0000126|NCIT:C12272|VHOG:0000256|EHDAA:6905|FMA:16003|BTO:0002362|EHDAA2:0001396|UMLS:C0030288|EMAPA:17510 http://upload.wikimedia.org/wikipedia/commons/1/15/Gray1100.png in EHDAA2 this is an epithelium, in FMA the wall consists of epithelium and connective tissue UBERON:0005627 uberon owl:Class These data show that ducts within the zebrafish pancreas originally arise in situ from isolated progenitor cells rather than arising from reiterative branching of the pancreatic epithelium. This process of pancreatic duct formation in zebrafish may be analogous to the mechanism of duct formation in the mammalian mammary and salivary glands. (...) A related mechanism of duct formation has also been proposed to occur within the mammalian pancreatic epithelium.[uncertain][VHOG] Upon reaching its final destination, the ventral pancreatic bud fuses with the much larger dorsal pancreatic bud. At this point of fusion, the main ducts of the ventral and dorsal pancreatic buds fuse, forming the duct of Wirsung, the main pancreatic duct. UBERON:0007329 biolink:NamedThing pancreatic duct A duct that collects and carries secretions of the exocrine pancreas to the intestine. tmpxe7fu0cj_hp_relaxed.owl duct of pancreas|ductus pancreaticus|pancreas duct MA:0000124|VHOG:0000254|EMAPA:32952|ZFA:0001372|FMA:10419|EHDAA:9194|TAO:0001372 this class groups together accessory (dorsal) and main (ventral) pancreatic ducts http://upload.wikimedia.org/wikipedia/commons/1/15/Gray1100.png uberon owl:Class Duct connecting the pancreas with the intestine. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] These data show that ducts within the zebrafish pancreas originally arise in situ from isolated progenitor cells rather than arising from reiterative branching of the pancreatic epithelium. This process of pancreatic duct formation in zebrafish may be analogous to the mechanism of duct formation in the mammalian mammary and salivary glands. (...) A related mechanism of duct formation has also been proposed to occur within the mammalian pancreatic epithelium.[uncertain][VHOG] in EHDAA2, the dorsal and ventral ducts are classified as epithelial sacs - review after overhaul of duct/epithelia terms UBERON:0002059 biolink:NamedThing submandibular ganglion The ganglion associated with the lingual nerve that provides postsynaptic fibers to the submandibular and sublingual glands. tmpxe7fu0cj_hp_relaxed.owl mandibular ganglion|Blandin`s ganglion|maxillary ganglion|lingual ganglion|submaxillary ganglion|ganglion submandibulare FMA:6966|NCIT:C52558|BTO:0001318|EHDAA:6710|MA:0002470|UMLS:C0229063|EHDAA2:0001942|EMAPA:36276 http://upload.wikimedia.org/wikipedia/commons/8/83/Gray778.png|http://upload.wikimedia.org/wikipedia/en/thumb/8/83/Gray778.png/200px-Gray778.png uberon owl:Class HP:0010329 biolink:NamedThing Abnormality of the epiphyses of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the 3rd toe bone UMLS:C4023900 doelkens 2009-07-16T11:40:52Z human_phenotype owl:Class HP:0040088 biolink:NamedThing Abnormal lymphocyte count Any abnormality in the total number of lymphocytes in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal lymphocyte count|Abnormal number of lymphocytes|Abnormality of lymphocyte number|Abnormal lymphocyte counts|Abnormal numbers of lymphocytes UMLS:C0580550|SNOMEDCT_US:165534000 HPO:skoehler owl:Class HP:0011032 biolink:NamedThing Abnormality of fluid regulation An abnormality of the regulation of body fluids. tmpxe7fu0cj_hp_relaxed.owl Abnormality of fluid regulation|Fluid imbalance SNOMEDCT_US:1860003|SNOMEDCT_US:190902006|UMLS:C2364164 peter 2011-03-05T09:09:27Z owl:Class HP:0012337 biolink:NamedThing Abnormal homeostasis An anomaly in the processes involved in the maintenance of an internal equilibrium. tmpxe7fu0cj_hp_relaxed.owl MP:0001764|UMLS:C4022950 peter 2013-09-13T09:23:23Z human_phenotype owl:Class UBERON:0000003 biolink:NamedThing naris Orifice of the olfactory system. The naris is the route by which odorants enter the olfactory system[MAH]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:17847|EHDAA:9083|VHOG:0000663|AAO:0000311|EHDAA2:0001225|MA:0000282|galen:Naris uberon owl:Class One of paired external openings of the nasal chamber.[AAO] Naris refer to the external and interior naris (choana) of tetrapods, and to anterior and posterior naris of zebrafish. It seems now accepted that the structure is homologous: The choana, a unique 'internal nostril' opening from the nasal sac into the roof of the mouth, is a key part of the tetrapod (land vertebrate) respiratory system. It was the first component of the tetrapod body plan to evolve, well before the origin of limbs, and is therefore crucial to our understanding of the beginning of the fish-tetrapod transition. (...) Here we present new material of Kenichthys, a 395-million-year-old fossil fish from China, that provides direct evidence for the origin of the choana and establishes its homology: it is indeed a displaced posterior external nostril that, during a brief transitional stage illustrated by Kenichthys, separated the maxilla from the premaxilla.[well established][VHOG] in actinopterygians, both pairs of nares are external. In tetrapods, the exhalant empties into the buccal cavity we have classified this as an orifice, according to FMA. Note that in FMA, orifices are immaterial entities, but in ZFA this is a surface structure GO:0033013 biolink:NamedThing tetrapyrrole metabolic process The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. tmpxe7fu0cj_hp_relaxed.owl tetrapyrrole metabolism biological_process owl:Class PATO:0002318 biolink:NamedThing superelliptic A shape constituting a transition between a rectangle and a circle; a closed curve, of which the circle and ellipse are special cases, whose parametric equation is x = a.cos2/rt, y = b.cos2/rt tmpxe7fu0cj_hp_relaxed.owl Lamé curve 2011-10-12T12:45:16Z quality owl:Class PATO:0002006 biolink:NamedThing 2-D shape A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity. tmpxe7fu0cj_hp_relaxed.owl cross-sectional|2-D projection quality owl:Class HP:0031015 biolink:NamedThing Intrahepatic portal vein sclerosis Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices. tmpxe7fu0cj_hp_relaxed.owl Non cirrhotic portal fibrosis|Incomplete septal cirrhosis|Idiopathic non-cirrhotic portal hypertension|Obliterative portal venopathy 2017-05-20 11:15:20+00:00 The diagnosis is based on histological examination of the liver. Clinical manifestations include encephalopathy, ascites and variceal bleeding. peter owl:Class HP:0031941 biolink:NamedThing Abnormal portal venous system morphology Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins. tmpxe7fu0cj_hp_relaxed.owl 2018-07-05 13:39:22+00:00 peter owl:Class PR:P08508 biolink:NamedThing low affinity immunoglobulin gamma Fc region receptor III (mouse) A low affinity immunoglobulin gamma Fc region receptor III that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl FcRIII (mouse)|mFcgr3|Fcgr3|Fc-gamma RIII (mouse)|CD16 (mouse)|IgG Fc receptor III (mouse) UniProtKB:P08508 Category=organism-gene. protein owl:Class PR:000001483 biolink:NamedThing low affinity immunoglobulin gamma Fc region receptor III An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr3 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl Fcgr3|Fc-gamma RIII|IgG Fc receptor III|FcRIII|CD16 Category=gene. Requested by=CL. protein owl:Class GO:0110116 biolink:NamedThing regulation of compound eye photoreceptor cell differentiation Any process that modulates the frequency, rate or extent of compound eye photoreceptor cell differentiation. tmpxe7fu0cj_hp_relaxed.owl kmv 2018-07-16T18:08:49Z biological_process owl:Class GO:0046532 biolink:NamedThing regulation of photoreceptor cell differentiation Any process that modulates the frequency, rate or extent of photoreceptor cell differentiation. An example of this process is found in Drosophila melanogaster. tmpxe7fu0cj_hp_relaxed.owl regulation of photoreceptor differentiation GO:0045673 biological_process owl:Class UBERON:0003435 biolink:NamedThing pedal digit nerve A nerve that is part of a toe [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl foot digit nerve|hind limb digit nerve|nerve of digit of foot|digitus pedis nerve|nerve of terminal segment of free lower limb digit|nerve of digit of terminal segment of free lower limb|nerve of foot digit|toe nerve|nerve of digitus pedis|nerve of toe|digit of foot nerve|digit of terminal segment of free lower limb nerve|terminal segment of free lower limb digit nerve EMAPA:37348|MA:0000649 uberon owl:Class UBERON:0003445 biolink:NamedThing pes nerve A nerve that is part of a foot [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl foot nerve|nerve of foot MA:0000653|EMAPA:37347 uberon owl:Class HP:0011893 biolink:NamedThing Abnormal leukocyte count Number of leukocytes per volume of blood beyond normal limits. tmpxe7fu0cj_hp_relaxed.owl Abnormal white blood cell count UMLS:C0580531|SNOMEDCT_US:165509000 peter 2012-06-02T05:32:39Z human_phenotype owl:Class CHEBI:17418 biolink:NamedThing valeric acid A straight-chain saturated fatty acid containing five carbon atoms. tmpxe7fu0cj_hp_relaxed.owl Valerate|n-valeric acid|Valerianic acid|n-BuCOOH|n-Pentanoate|pentanoic acid|n-Valeric acid|pentoic acid|Valeriansaeure|valeric acid, normal|Valeric acid|PENTANOIC ACID|propylacetic acid|CH3-[CH2]3-COOH|Pentanoate|Pentanoic acid|n-pentanoic acid|1-butanecarboxylic acid 0 C5H10O2 InChI=1S/C5H10O2/c1-2-3-4-5(6)7/h2-4H2,1H3,(H,6,7) NQPDZGIKBAWPEJ-UHFFFAOYSA-N 102.13170 102.06808 CCCCC(O)=O Beilstein:969454|Wikipedia:Valeric_acid|LIPID_MAPS_instance:LMFA01010005|Gmelin:26714|HMDB:HMDB0000892|PDBeChem:LEA|PMID:20507156|CAS:109-52-4|KNApSAcK:C00001208|DrugBank:DB02406|KEGG:C00803|PPDB:3130|Reaxys:969454 CHEBI:113448|CHEBI:43606|CHEBI:7980|CHEBI:27263|CHEBI:44803|CHEBI:27264 chebi_ontology owl:Class HP:0003016 biolink:NamedThing Metaphyseal widening Abnormal widening of the metaphyseal regions of long bones. tmpxe7fu0cj_hp_relaxed.owl Widened long bone metaphyses|Broad wide portion of long bone|Wide metaphyses|Widened metaphyses UMLS:C1849039 HP:0005074 human_phenotype owl:Class HP:0007905 biolink:NamedThing Abnormal iris vasculature tmpxe7fu0cj_hp_relaxed.owl Abnormality of iris blood vessels UMLS:C3275963 human_phenotype owl:Class HP:0008047 biolink:NamedThing Abnormality of the vasculature of the eye tmpxe7fu0cj_hp_relaxed.owl Abnormality of eye blood vessels UMLS:C4024752 peter 2008-04-02T12:10:00Z owl:Class HP:0032468 biolink:NamedThing History of stillbirth One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation). tmpxe7fu0cj_hp_relaxed.owl 2019-04-04 09:53:23+00:00 peter owl:Class CHEBI:74783 biolink:NamedThing astringent A compound that causes the contraction of body tissues, typically used to reduce bleeding from minor abrasions. tmpxe7fu0cj_hp_relaxed.owl adstringents|adstringent|astringents Wikipedia:Astringent chebi_ontology owl:Class GO:0014742 biolink:NamedThing positive regulation of muscle hypertrophy Any process that activates or increases the frequency, rate or extent of muscle hypertrophy. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1901191 biolink:NamedThing negative regulation of formation of translation initiation ternary complex Any process that stops, prevents or reduces the frequency, rate or extent of formation of translation initiation ternary complex. tmpxe7fu0cj_hp_relaxed.owl negative regulation of translation initiation ternary complex assembly|downregulation of translation initiation ternary complex assembly|down regulation of translation initiation ternary complex assembly|inhibition of translation initiation ternary complex assembly|downregulation of formation of translation initiation ternary complex|inhibition of formation of translation initiation ternary complex|down-regulation of formation of translation initiation ternary complex|down-regulation of translation initiation ternary complex assembly|down regulation of formation of translation initiation ternary complex ss 2012-07-25T02:27:21Z biological_process owl:Class GO:0031644 biolink:NamedThing regulation of nervous system process Any process that modulates the frequency, rate or extent of a neurophysiological process, an organ system process carried out by any of the organs or tissues of the nervous system. tmpxe7fu0cj_hp_relaxed.owl regulation of neurological system process|regulation of neurophysiological process|regulation of neurological process biological_process owl:Class UBERON:0001352 biolink:NamedThing external acoustic meatus A tube running from the outer ear to the middle ear. The human ear canal extends from the pinna to the eardrum and is about 26 mm in length and 7 mm in diameter. tmpxe7fu0cj_hp_relaxed.owl external acoustic tube|auditory canal|external auditory tube|ear canal|external auditory meatus|auditory meatus|external auditory canal EMAPA:17588|VHOG:0000977|MESH:D004424|EHDAA2:0000460|EV:0100356|galen:ExternalAuditoryMeatus|EHDAA:8975|MA:0000260|GAID:864|NCIT:C12498|FMA:61734|UMLS:C0013444|OpenCyc:Mx4rvli-nZwpEbGdrcN5Y29ycA consider revisiting superclass after refinement of CARO/EAO, conduit may not be quite correct. uberon owl:Class tympanic ring, which serves as support for the tympanic membrane, directs invagination of the first pharingeal cleft ectoderm to form the external acoustic meatus (EAM), which provides the outer layer of the membrane[PMID 11237469] subdivision of head in FMA. HP:0001772 biolink:NamedThing Talipes equinovalgus A deformity of foot and ankle in which the foot is bent down and outwards. tmpxe7fu0cj_hp_relaxed.owl Equinovalgus deformity SNOMEDCT_US:68284008|MSH:D004863|UMLS:C0265642|UMLS:C4020866 human_phenotype owl:Class HP:0001883 biolink:NamedThing Talipes A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. tmpxe7fu0cj_hp_relaxed.owl Talipes foot deformities UMLS:C1301937|MSH:D000070558|SNOMEDCT_US:398309008|UMLS:C3552713 Talipes means (a deformity of) foot and ankle. There are four types of talipes. 1) Talipes equinovarus - the foot is pointing inwards and down (the most common form) 2) Talipes equinovalgus - where the foot points outwards and down 3) Talipes calcaneovarus - where the foot points inwards and up 4) Talipes calcaneovalgus - where the foot points inwards and down. owl:Class GO:1905956 biolink:NamedThing positive regulation of endothelial tube morphogenesis Any process that activates or increases the frequency, rate or extent of endothelial tube morphogenesis. tmpxe7fu0cj_hp_relaxed.owl upregulation of endothelial tube morphogenesis|activation of endothelial tube morphogenesis|up regulation of endothelial tube morphogenesis|up-regulation of endothelial tube morphogenesis rph 2017-02-21T15:17:39Z biological_process owl:Class GO:1905332 biolink:NamedThing positive regulation of morphogenesis of an epithelium Any process that activates or increases the frequency, rate or extent of morphogenesis of an epithelium. tmpxe7fu0cj_hp_relaxed.owl up-regulation of morphogenesis of an epithelium|upregulation of epithelium morphogenesis|activation of morphogenesis of an epithelium|up regulation of morphogenesis of an epithelium|up regulation of epithelium morphogenesis|positive regulation of epithelium morphogenesis|up-regulation of epithelium morphogenesis|upregulation of morphogenesis of an epithelium|activation of epithelium morphogenesis An example of this is MMRN2 in human (Q9H8L6) in PMID:25745997 (inferred from direct assay). bhm 2016-07-22T07:14:05Z biological_process owl:Class PATO:0001865 biolink:NamedThing spheroid A convex 3-D shape quality inhering in a bearer by virtue of the bearer's having a quadric surface in three dimensions obtained by rotating an ellipse about one of its principal axes. Includes spheres and oblate/prolate spheroids. tmpxe7fu0cj_hp_relaxed.owl sphericality PATO:0001864 quality owl:Class HP:0006713 biolink:NamedThing Aplasia/Hypoplasia of the scapulae tmpxe7fu0cj_hp_relaxed.owl Absent/small shoulder blade|Absent/underdeveloped shoulder blade UMLS:C4024991 peter 2008-03-29T03:58:00Z human_phenotype owl:Class HP:0000782 biolink:NamedThing Abnormal scapula morphology Any abnormality of the scapula, also known as the shoulder blade. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the shoulder blade UMLS:C4025828 owl:Class CL:0000111 biolink:NamedThing peripheral neuron A neuron that is part of nerve found outside the central nervous system. tmpxe7fu0cj_hp_relaxed.owl FMA:84664 cell owl:Class HP:0500058 biolink:NamedThing Retinopathy of prematurity stage 5b A closed funnel detachment of the retina with generally traction in all four quadrants. tmpxe7fu0cj_hp_relaxed.owl ROP stage 5b 2018-02-19 19:16:26+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0500056 biolink:NamedThing Retinopathy of prematurity stage 5 Funnel detachment from the retina with generally traction in all four quadrants. tmpxe7fu0cj_hp_relaxed.owl ROP stage 5 2018-02-19 19:11:28+00:00 ORCID:0000-0001-7941-2961 owl:Class CL:0000000 biolink:NamedThing cell A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane. tmpxe7fu0cj_hp_relaxed.owl VHOG:0001533|FMA:68646|WBbt:0004017|GO:0005623|XAO:0003012|KUPO:0000002|CALOHA:TS-2035 The definition of cell is intended to represent all cells, and thus a cell is defined as a material entity and not an anatomical structure, which implies that it is part of an organism (or the entirety of one). cell owl:Class GO:0046886 biolink:NamedThing positive regulation of hormone biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0032352 biolink:NamedThing positive regulation of hormone metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0042326 biolink:NamedThing negative regulation of phosphorylation Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule. tmpxe7fu0cj_hp_relaxed.owl inhibition of phosphorylation|down regulation of phosphorylation|downregulation of phosphorylation|down-regulation of phosphorylation biological_process owl:Class HP:4000060 biolink:NamedThing Abnormal pulmonary alveolar system development tmpxe7fu0cj_hp_relaxed.owl 2021-06-09 12:17:33+00:00 robinp owl:Class HP:0033137 biolink:NamedThing Abnormal pulmonary alveolar system morphology A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli. tmpxe7fu0cj_hp_relaxed.owl 2020-09-09 13:40:22+00:00 peter owl:Class CHEBI:33697 biolink:NamedThing ribonucleic acid High molecular weight, linear polymers, composed of nucleotides containing ribose and linked by phosphodiester bonds; RNA is central to the synthesis of proteins. tmpxe7fu0cj_hp_relaxed.owl yeast nucleic acid|ribose nucleic acid|ribonucleic acids|Ribonukleinsaeure|pentosenucleic acids|ribonucleic acid|RNS|RNA CAS:63231-63-0 chebi_ontology owl:Class CHEBI:33696 biolink:NamedThing nucleic acid A macromolecule made up of nucleotide units and hydrolysable into certain pyrimidine or purine bases (usually adenine, cytosine, guanine, thymine, uracil), D-ribose or 2-deoxy-D-ribose and phosphoric acid. tmpxe7fu0cj_hp_relaxed.owl acides nucleiques|acidos nucleicos|acide nucleique|Nukleinsaeure|NA|acido nucleico|Nukleinsaeuren|nucleic acids chebi_ontology owl:Class GO:0051952 biolink:NamedThing regulation of amine transport Any process that modulates the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0000058 biolink:NamedThing duct A tubular structure that transports secreted or excreted substances. tmpxe7fu0cj_hp_relaxed.owl ducts|exocrine gland duct|exocrine duct|anatomical duct FBbt:00100314|FMA:30320|SCTID:91726008|TAO:0005171|galen:Duct|NCIT:C12948|Wikipedia:Duct_(anatomy)|AAO:0011123|XAO:0004000|UMLS:C0687028|ZFA:0005171 uberon owl:Class A tube shaped portion of tissue lined with epithelial cells that collects secretions and routes them to their destination[ZFA:0005171]. Most ducts, but not all, are exocrine gland ducts. Some ontologies classify structures such as the oviduct here. HP:0100374 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped middle bone of pinky toe|Absent/small middle 5th toe bone|Absent/underdeveloped middle bone of pinkie toe|Absent/underdeveloped middle bone of little toe UMLS:C4022117 human_phenotype owl:Class HP:0010393 biolink:NamedThing Abnormality of the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the middle bone of the pinkie toe|Abnormality of the middle bone of the little toe|Abnormality of the middle bone of the pinky toe UMLS:C4023861 doelkens 2009-07-16T11:52:18Z human_phenotype owl:Class GO:0031946 biolink:NamedThing regulation of glucocorticoid biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0090030 biolink:NamedThing regulation of steroid hormone biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0003922 biolink:NamedThing pancreatic epithelial bud The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. tmpxe7fu0cj_hp_relaxed.owl pancreatic buds|pancreas epithelium|pancreatic anlage|pancreatic bud NCIT:C34242|UMLS:C1283285|ZFA:0001390|TAO:0001390|EMAPA:35645|EFO:0003470 http://upload.wikimedia.org/wikipedia/commons/4/49/Suckale08FBS_fig1_pancreas_development.jpeg|http://upload.wikimedia.org/wikipedia/commons/d/db/Gray982.png uberon owl:Class UBERON:0005254 biolink:NamedThing upper leg mesenchyme Mesenchyme that is part of a developing hindlimb stylopod [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0002132|VHOG:0000506|EMAPA:17501 uberon owl:Class GO:0034352 biolink:NamedThing positive regulation of glial cell apoptotic process Any process that activates or increases the frequency, rate, or extent of glial cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl up regulation of glial cell apoptosis|up-regulation of glial cell apoptosis|stimulation of glial cell apoptosis|upregulation of glial cell apoptosis|positive regulation of glial cell apoptosis|activation of glial cell apoptosis biological_process owl:Class UBERON:0002325 biolink:NamedThing epithelium of urethra The urethra is a renal system organ that carries urine from the bladder to outside the body. The epithelium is the tubular, planar layer of cells through which the urine passes.. tmpxe7fu0cj_hp_relaxed.owl urethral seam|epithelial tissue of urethra|urethra epithelium|urethral plate|urethral epithelium|urethra epithelial tissue FMA:85275|NCIT:C49309|EMAPA:31518|UMLS:C1710584|MA:0001686 uberon owl:Class HP:0000800 biolink:NamedThing Cystic renal dysplasia tmpxe7fu0cj_hp_relaxed.owl Bilateral cystic dysplasia|Renal dysplasia, cystic|Renal cystic dysplasia UMLS:C1834931 HP:0008737 human_phenotype owl:Class HP:0000107 biolink:NamedThing Renal cyst A fluid filled sac in the kidney. tmpxe7fu0cj_hp_relaxed.owl Renal cysts|Cystic kidneys|Cystic kidney disease|Kidney cyst UMLS:C3887499|UMLS:C0022679|MSH:D052177 HP:0000109|HP:0000088 human_phenotype owl:Class HP:0010607 biolink:NamedThing Hordeolum externum Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0019919|SNOMEDCT_US:1489008 sandra1 2009-10-27T11:33:07Z human_phenotype owl:Class HP:0010606 biolink:NamedThing Hordeolum An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling. tmpxe7fu0cj_hp_relaxed.owl Red bump on eyelid|Stye of eyelid SNOMEDCT_US:397513003|SNOMEDCT_US:1489008|UMLS:C0019917|UMLS:C4280376|MSH:D006726 sandra1 2009-10-27T11:01:13Z human_phenotype owl:Class UBERON:0004490 biolink:NamedThing cardiac muscle tissue of atrium A portion of cardiac muscle tissue that is part of an atrium [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl atrial heart muscle|atrial cardiac muscle tissue|cardiac atrium muscle|atrial myocardium FMA:7283 uberon owl:Class in GO, this is equivalent to the atrial myocardium, but FMA distinguishes these two. Consider merging. HP:0010408 biolink:NamedThing Osteolytic defects of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023847 doelkens 2009-07-16T12:43:52Z human_phenotype owl:Class HP:0011631 biolink:NamedThing Complete right sided absence of pericardium No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023258 peter 2012-04-08T10:08:42Z human_phenotype owl:Class GO:0090317 biolink:NamedThing negative regulation of intracellular protein transport Any process that decreases the frequency, rate or extent of the directed movement of proteins within cells. tmpxe7fu0cj_hp_relaxed.owl tb 2010-04-16T03:45:07Z biological_process owl:Class GO:0032387 biolink:NamedThing negative regulation of intracellular transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances within cells. tmpxe7fu0cj_hp_relaxed.owl inhibition of intracellular transport|down regulation of intracellular transport|downregulation of intracellular transport|down-regulation of intracellular transport biological_process owl:Class HP:0002197 biolink:NamedThing Generalized-onset seizure A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. tmpxe7fu0cj_hp_relaxed.owl Primary generalized seizure|Generalized seizures|Generalized onset seizure|Primary generalised seizure|Generalised onset seizure|Generalised seizures|Generalised-onset seizure|Generalized-onset seizures SNOMEDCT_US:246545002|UMLS:C1833488|UMLS:C0234533|MSH:D012640 in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. Classifying a seizure as having apparently generalised onset does not rule out a focal-onset obscured by limitations of our current clinical methods. HP:0007339|HP:0002409|HP:0007114 human_phenotype owl:Class CHEBI:25555 biolink:NamedThing nitrogen atom tmpxe7fu0cj_hp_relaxed.owl nitrogen|7N|N|nitrogeno|azote|Stickstoff 0 N 14.007 14.00307 WebElements:N chebi_ontology owl:Class HP:0008742 biolink:NamedThing Prominent prostate median bar tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024629 human_phenotype owl:Class HP:0008775 biolink:NamedThing Abnormal prostate morphology An abnormality of the prostate. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the prostate UMLS:C0747987 peter 2008-04-04T06:01:00Z human_phenotype owl:Class HP:0004384 biolink:NamedThing Type I truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries. tmpxe7fu0cj_hp_relaxed.owl Persistent truncus arteriosus type I|Type 1 truncus arteriosus Fyler:510|UMLS:C1834934|Fyler:0510 According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. peter 2008-03-18T08:57:00Z human_phenotype owl:Class HP:0001660 biolink:NamedThing Truncus arteriosus A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. tmpxe7fu0cj_hp_relaxed.owl Common arterial trunk|Persistant truncus arteriosus Fyler:500|Fyler:0500|UMLS:C4020867|SNOMEDCT_US:58140002|ICD-10:Q20.0|MSH:D014338|UMLS:C0041206 human_phenotype owl:Class GO:0007517 biolink:NamedThing muscle organ development The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0061061 biolink:NamedThing muscle structure development The progression of a muscle structure over time, from its formation to its mature state. Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms. tmpxe7fu0cj_hp_relaxed.owl dph 2010-03-09T08:55:14Z biological_process owl:Class UBERON:8300003 biolink:NamedThing right hindlimb A hindlimb that is on the right side of a pelvic complex. tmpxe7fu0cj_hp_relaxed.owl FMA:7187 http://orcid.org/0000-0001-9897-3238 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern GO:1901343 biolink:NamedThing negative regulation of vasculature development Any process that stops, prevents or reduces the frequency, rate or extent of vasculature development. tmpxe7fu0cj_hp_relaxed.owl inhibition of vascular system development|down regulation of vasculature development|negative regulation of vascular system development|down regulation of vascular system development|downregulation of vascular system development|inhibition of vasculature development|down-regulation of vasculature development|downregulation of vasculature development|down-regulation of vascular system development bf 2012-09-06T09:17:24Z biological_process owl:Class GO:0002791 biolink:NamedThing regulation of peptide secretion Any process that modulates the frequency, rate, or extent of peptide secretion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0051046 biolink:NamedThing regulation of secretion Any process that modulates the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CL:0000907 biolink:NamedThing central memory CD8-positive, alpha-beta T cell CD8-positive, alpha-beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl central memory CD8-positive, alpha-beta T-lymphocyte|central memory CD8+ T cell|central CD8-positive, alpha-beta memory T-cell|central CD8-positive, alpha-beta memory T-lymphocyte|central CD8-positive, alpha-beta memory T cell|central CD8-positive, alpha-beta memory T lymphocyte|central memory CD8-positive, alpha-beta T lymphocyte|central memory CD8-positive, alpha-beta T-cell This cell type is compatible with the HIPC Lyoplate markers for 'central memory CD8+ T cell', but includes additional markers known to be expressed on central memory CD8+ T cells. cell owl:Class CL:0001203 biolink:NamedThing CD8-positive, alpha-beta memory T cell, CD45RO-positive A CD8-positive, alpha-beta T cell with memory phenotype indicated by being CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. tmpxe7fu0cj_hp_relaxed.owl CD8-positive, alpha-beta memory T-lymphocyte, CD45RO-positive|CD8-positive, alpha-beta memory T-cell, CD45RO-positive|CD8-positive, alpha-beta memory T lymphocyte, CD45RO-positive cell owl:Class UBERON:0004768 biolink:NamedThing bone of lower jaw Any bone that is part of the lower jaw skeleton. This includes (when present): the dentary/mandible, the articular, the splenial, the suprangular. tmpxe7fu0cj_hp_relaxed.owl lower jaw bone Do not manually classify under here - bones are automatically classified uberon owl:Class CL:0002590 biolink:NamedThing smooth muscle cell of the brain vasculature A vascular associated smooth muscle cell of the brain vasculature. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-03-06T05:01:20Z cell owl:Class HP:0010397 biolink:NamedThing Bullet-shaped proximal phalanx of the 2nd toe An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped innermost bone of 2nd toe UMLS:C4023857 doelkens 2009-07-16T11:58:15Z human_phenotype owl:Class HP:0010205 biolink:NamedThing Bullet-shaped proximal toe phalanx An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped proximal phalanges of the toes|Bullet-shaped innermost toe bone|Bullet-shaped proximal phalanges of toe UMLS:C4021316 doelkens 2009-05-29T01:54:18Z human_phenotype owl:Class GO:1900148 biolink:NamedThing negative regulation of Schwann cell migration Any process that stops, prevents or reduces the frequency, rate or extent of Schwann cell migration. tmpxe7fu0cj_hp_relaxed.owl downregulation of Schwann cell migration|down-regulation of Schwann cell migration|down regulation of Schwann cell migration|inhibition of Schwann cell migration bf 2012-03-06T04:14:55Z biological_process owl:Class GO:1903976 biolink:NamedThing negative regulation of glial cell migration Any process that stops, prevents or reduces the frequency, rate or extent of glial cell migration. tmpxe7fu0cj_hp_relaxed.owl negative regulation of glia cell migration|down regulation of glia cell migration|downregulation of glia cell migration|inhibition of glia cell migration|down regulation of glial cell migration|inhibition of glial cell migration|down-regulation of glia cell migration|downregulation of glial cell migration|down-regulation of glial cell migration nc 2015-03-02T15:13:38Z biological_process owl:Class CHEBI:132153 biolink:NamedThing hyaluronate A carbohydrate acid derivative anion obtained by deprotonation of the carboxy groups of hyaluronic acid; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl hyaluronan|hyaluronate polyanion -1 (C14H20NO11)n.H2O chebi_ontology owl:Class CHEBI:63551 biolink:NamedThing carbohydrate acid derivative anion A carboxylic acid anion resulting from the deprotonation of the carboxy group of a carbohydrate acid derivative. tmpxe7fu0cj_hp_relaxed.owl carbohydrate acid anion derivatives|carbohydrate acid derivative anions|carbohydrate acid anion derivative chebi_ontology owl:Class CHEBI:33017 biolink:NamedThing diphosphate(1-) A monovalent inorganic anion obtained by deprotonation of one of the phosphate OH groups in diphosphoric acid. tmpxe7fu0cj_hp_relaxed.owl trihydrogen diphosphate|H3P2O7(-) -1 H3O7P2 InChI=1S/H4O7P2/c1-8(2,3)7-9(4,5)6/h(H2,1,2,3)(H2,4,5,6)/p-1 XPPKVPWEQAFLFU-UHFFFAOYSA-M 176.96714 176.93595 OP(O)(=O)OP(O)([O-])=O Gmelin:185086 chebi_ontology owl:Class CHEBI:79389 biolink:NamedThing monovalent inorganic anion Any inorganic anion with a valency of one. tmpxe7fu0cj_hp_relaxed.owl monovalent inorganic anions chebi_ontology owl:Class GO:0060959 biolink:NamedThing cardiac neuron development The process whose specific outcome is the progression of a cardiac neuron over time, from its formation to the mature state. tmpxe7fu0cj_hp_relaxed.owl heart neuron development dph 2009-09-30T10:14:56Z biological_process owl:Class HP:0032920 biolink:NamedThing Focal impaired awareness manual automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032900 biolink:NamedThing Focal manual automatism seizure A type of focal automatism seizure characterized by manual automatisms at onset. tmpxe7fu0cj_hp_relaxed.owl These may include involuntary unilateral or bilateral, fumbling, tapping, manipulating, or exploratory movements of the hands. peter owl:Class HP:0010310 biolink:NamedThing Chylothorax Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0008733|MSH:D002916|SNOMEDCT_US:83035003 peter 2009-07-12T02:30:05Z human_phenotype owl:Class HP:0002202 biolink:NamedThing Pleural effusion The presence of an excessive amount of fluid in the pleural cavity. tmpxe7fu0cj_hp_relaxed.owl Fluid around lungs MSH:D010996|UMLS:C0032227|SNOMEDCT_US:60046008 human_phenotype owl:Class HP:0002627 biolink:NamedThing Right aortic arch with mirror image branching The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025695 human_phenotype owl:Class HP:0006773 biolink:NamedThing Cutaneous angiolipomas tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024980|NCIT:C3733 human_phenotype owl:Class HP:0009922 biolink:NamedThing Vascular remnant arising from the disc Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. tmpxe7fu0cj_hp_relaxed.owl Persistence of the hyaloid artery|Persistent hyaloid artery UMLS:C4024160 peter 2009-05-02T06:43:07Z human_phenotype owl:Class GO:1905315 biolink:NamedThing cell proliferation involved in endocardial cushion morphogenesis Any cell proliferation that is involved in endocardial cushion morphogenesis. tmpxe7fu0cj_hp_relaxed.owl rl 2016-07-12T13:56:36Z biological_process owl:Class GO:0061323 biolink:NamedThing cell proliferation involved in heart morphogenesis The multiplication or reproduction of cells, resulting in the expansion of a cell population that contributes to the shaping of the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2010-09-28T09:05:26Z biological_process owl:Class HP:0005590 biolink:NamedThing Spotty hypopigmentation tmpxe7fu0cj_hp_relaxed.owl Spotty decreased pigmentation|Patchy hypopigmentation|Patchy depigmentation UMLS:C3806178 human_phenotype owl:Class HP:0001053 biolink:NamedThing Hypopigmented skin patches tmpxe7fu0cj_hp_relaxed.owl Patchy loss of skin colour|Patchy loss of skin color UMLS:C1836735 human_phenotype owl:Class UBERON:0001073 biolink:NamedThing ileocecal junction A point along the course of the gastrointestinal tract where the small intestine (ileum) ends as it opens into the cecal portion of the large intestine; occurs usually within the iliac fossa, demarcated internally as the ileocecal orifice. tmpxe7fu0cj_hp_relaxed.owl ileocaecal junction FMA:11338|MA:0000332|EMAPA:37601 uberon owl:Class UBERON:8410024 biolink:NamedThing intestinal junction An anatomical junction between two parts of the intestine. tmpxe7fu0cj_hp_relaxed.owl junction of intestine http://orcid.org/0000-0002-2825-0621 uberon owl:Class HP:0001555 biolink:NamedThing Asymmetry of the thorax Lack of symmetry between the left and right halves of the thorax. tmpxe7fu0cj_hp_relaxed.owl Asymmetric chest UMLS:C1858033 owl:Class HP:0000077 biolink:NamedThing Abnormality of the kidney An abnormality of the kidney. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the kidney|Renal anomalies|Renal anomaly|Abnormal kidney MSH:D007674|UMLS:C0022658|SNOMEDCT_US:44513007|UMLS:C0266292|SNOMEDCT_US:90708001 The kidney is a paired organ whose primary function is the production of urine. human_phenotype owl:Class HP:0010935 biolink:NamedThing Abnormality of the upper urinary tract An abnormality of the upper urinary tract. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the upper urinary tract UMLS:C4023641 The upper urinary tract is a subdivision of urinary system which consists of the kidney and the ureters. peter 2011-01-16T11:37:29Z human_phenotype owl:Class HP:0030771 biolink:NamedThing Mallet finger Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0158473|SNOMEDCT_US:64298006 owl:Class HP:0001167 biolink:NamedThing Abnormality of finger An anomaly of a finger. tmpxe7fu0cj_hp_relaxed.owl Abnormalities of the fingers|Abnormality of finger UMLS:C2674737 HP:0003035 human_phenotype owl:Class GO:0009179 biolink:NamedThing purine ribonucleoside diphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside diphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with diphosphate on the sugar. tmpxe7fu0cj_hp_relaxed.owl purine ribonucleoside diphosphate metabolism biological_process owl:Class GO:0009135 biolink:NamedThing purine nucleoside diphosphate metabolic process The chemical reactions and pathways involving purine nucleoside diphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with diphosphate on the sugar. tmpxe7fu0cj_hp_relaxed.owl purine nucleoside diphosphate metabolism biological_process owl:Class GO:0033993 biolink:NamedThing response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0003444 biolink:NamedThing pelvis nerve A nerve that is part of a pelvis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nerve of pelvis MA:0000542|EMAPA:37269 uberon owl:Class HP:0002089 biolink:NamedThing Pulmonary hypoplasia tmpxe7fu0cj_hp_relaxed.owl Poorly developed lungs|Hypoplastic lung|Hypoplastic lungs|Small lung|Lung hypoplasia|Underdeveloped lung UMLS:C0265783|SNOMEDCT_US:80825009 owl:Class UBERON:0006838 biolink:NamedThing ventral ramus of spinal nerve Branch of spinal nerve that innervates the hypaxial muscles. tmpxe7fu0cj_hp_relaxed.owl ventral ramus|anterior ramus of spinal nerve|ramus anterior nervi spinalis|ramus anterior|ventral ramus of spinal nerve|anterior branch of spinal nerve|anterior primary ramus of spinal nerve FMA:5982 Spinal:nerve.svg uberon owl:Class HGNC:553 biolink:NamedThing AOX1 (human) A protein coding gene AOX1 in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class GO:0070955 biolink:NamedThing negative regulation of neutrophil mediated killing of symbiont cell Any process that decreases the frequency, rate or extent of the directed killing of a symbiont target cell by a neutrophil. tmpxe7fu0cj_hp_relaxed.owl inhibition of neutrophil mediated killing of symbiont cell|down-regulation of neutrophil mediated killing of symbiont cell|downregulation of neutrophil mediated killing of symbiont cell|down regulation of neutrophil mediated killing of symbiont cell mah 2009-10-01T02:20:17Z biological_process owl:Class GO:0070949 biolink:NamedThing regulation of neutrophil mediated killing of symbiont cell Any process that modulates the rate, frequency or extent of neutrophil mediated killing of a symbiont cell, the directed killing of a symbiont target cell by a neutrophil. tmpxe7fu0cj_hp_relaxed.owl mah 2009-10-01T02:14:36Z biological_process owl:Class HP:0006516 biolink:NamedThing Hypersensitivity pneumonitis Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:37471005|MSH:D000542|UMLS:C0002390 Hypersensitivity pneumonitis may also be called many different names, based on the provoking antigen. owl:Class HP:0006530 biolink:NamedThing Abnormal pulmonary interstitial morphology Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. tmpxe7fu0cj_hp_relaxed.owl Interstitial lung disease|Interstitial pulmonary disease|Abnormal lung parenchyma morphology|Abnormality in area between air sacs in lung MSH:D017563|UMLS:C0206062|SNOMEDCT_US:233703007 HP:0006513|HP:0006547 owl:Class HP:0032440 biolink:NamedThing Blood group B ABO phenotype B, corresponding to the genotype BO or BB. tmpxe7fu0cj_hp_relaxed.owl 2019-03-03 16:34:03+00:00 peter owl:Class HP:0032224 biolink:NamedThing ABO blood group The ABO system consists of A and B antigens and antibodies against these antigens. tmpxe7fu0cj_hp_relaxed.owl 2019-01-24 11:40:47+00:00 The ABO histo-blood group consists of two antigens (A and B antigens) and four blood types (types A, B, AB, and O). The A and B antigens are the product of the ABO gene and are autosomal codominant. The group O phenotype is an autosomal-recessive phenotype due to the homozygous inheritance of two null ABO alleles. Group O individuals express the H antigen, the biosynthetic precursor to A and B antigens. ABO, therefore, is the blood type, whereas A, B, and H refer to the antigens. peter owl:Class UBERON:0003623 biolink:NamedThing manual digit 3 3rd digit of the manus. tmpxe7fu0cj_hp_relaxed.owl 3rd digit of hand|hand digit 3|manual digit III|fore digit III|third finger|third digit of hand|digitus medius|long finger|middle finger|digit 3 of fore-paw|3rd finger|fore limb digit 3|finger 3 EMAPA:17435|UMLS:C0230393|NCIT:C52836|AAO:0010641|MA:0000456|FMA:24947|EHDAA2:0000523 Middle:finger.jpg uberon owl:Class This class represents the standard tetrapod configuration. Wagner proposes that avian digits I,II,III develop from C2,C3,C4. To support this scheme we have separate classes representing the avian digits (here called alula, manual digit, major digit). UBERON:0019232 biolink:NamedThing manual digit 2, 3 or 4 tmpxe7fu0cj_hp_relaxed.owl mesoxaxial finger|mesoaxial manual digit|medial manual digit uberon https://github.com/obophenotype/uberon/issues/592 owl:Class HP:0003093 biolink:NamedThing Limited hip extension Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. tmpxe7fu0cj_hp_relaxed.owl Restricted hip extension|Limited hip extension UMLS:C3553368 Reduced ability to straighten out the femur. HP:0008810 human_phenotype owl:Class HP:0009767 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the hand Small or missing phalangeal bones of the fingers of the hand. tmpxe7fu0cj_hp_relaxed.owl Aplastic/hypoplastic phalanges|Hypoplastic/absent phalanges|Aplastic/hypoplastic phalanges of the hand UMLS:C1848670 doelkens 2009-02-02T11:38:04Z HP:0006056|HP:0006100|HP:0009801 human_phenotype owl:Class UBERON:0018542 biolink:NamedThing mandibular symphyseal region The region of the mandible on or near the midline (near the mandiblular symphysis). tmpxe7fu0cj_hp_relaxed.owl symphyseal region MFMO:0000147 uberon owl:Class UBERON:0016458 biolink:NamedThing esophageal hiatus A hole in the diaphragm through which the esophagus passes. tmpxe7fu0cj_hp_relaxed.owl esophageal hiatus of diaphragm|oesophageal hiatus|oesophageal aperture FMA:58289 uberon owl:Class UBERON:0004256 biolink:NamedThing hindlimb zeugopod muscle Any muscle organ that is part of a hindlimb zeugopod (lower leg) [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscle of leg|lower leg muscle|calf muscle EMAPA:19318|MA:0000678|FMA:22471 the FMA class 'muscle of leg' belongs here, do not move[cjm] uberon owl:Class See notes on UBERON:0000978 for possible terminological confusion over term 'leg' UBERON:0001383 biolink:NamedThing muscle of leg A muscle that is part of the region of the hindlimb between the pelvis and ankle. tmpxe7fu0cj_hp_relaxed.owl muscle of upper/lower leg|muscle of upper or lower hindlimb segment|muscle of thigh or crus|leg muscle|leg skeletal muscle tissue|muscle of hindlimb zeugopod or stylopod|skeletal muscle of leg|leg skeletal muscle|muscle organ of leg|leg muscle organ EMAPA:19318|RETIRED_EHDAA2:0000974|EHDAA:8291|MA:0000672|EMAPA:19144|BTO:0000722 UBERON:0003270 uberon owl:Class see notes on UBERON:0000978 for possible confusion over the term 'leg'. GO:0045725 biolink:NamedThing positive regulation of glycogen biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0031328 biolink:NamedThing positive regulation of cellular biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl positive regulation of cellular biosynthesis|activation of cellular biosynthetic process|positive regulation of cellular synthesis|stimulation of cellular biosynthetic process|positive regulation of cellular anabolism|positive regulation of cellular formation|upregulation of cellular biosynthetic process|up-regulation of cellular biosynthetic process|up regulation of cellular biosynthetic process biological_process owl:Class HP:0033273 biolink:NamedThing Loss of glomerular endothelial cell fenestration Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 16:22:34+00:00 peter owl:Class HP:0010731 biolink:NamedThing Extension of eyebrows towards upper eyelid The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid. tmpxe7fu0cj_hp_relaxed.owl Extension of eyebrows towards upper eyelid UMLS:C4023717 This is commonly a feature of Jacobson syndrome. doelkens 2010-04-21T04:46:32Z human_phenotype owl:Class HP:0011229 biolink:NamedThing Broad eyebrow Regional increase in the width (height) of the eyebrow. tmpxe7fu0cj_hp_relaxed.owl Flared eyebrows|Increased vertical width of eyebrow|Broad eyebrow|Increased vertical thickness of eyebrow|Broad eyebrows|Flared eyebrow|Increased vertical height of eyebrow UMLS:C1856121 Broadening or flaring can be medial or lateral. Flaring is used to describe a widening with a change in direction of the eyebrow hairs. peter 2011-12-14T08:21:26Z human_phenotype owl:Class GO:0016070 biolink:NamedThing RNA metabolic process The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. tmpxe7fu0cj_hp_relaxed.owl RNA metabolism biological_process owl:Class GO:0090304 biolink:NamedThing nucleic acid metabolic process Any cellular metabolic process involving nucleic acids. tmpxe7fu0cj_hp_relaxed.owl tb 2010-04-07T10:18:47Z biological_process owl:Class HP:0009813 biolink:NamedThing Upper limb phocomelia Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). tmpxe7fu0cj_hp_relaxed.owl UMLS:C0265573|SNOMEDCT_US:253926000 doelkens 2009-02-23T05:06:12Z human_phenotype owl:Class HP:0006496 biolink:NamedThing Aplasia/hypoplasia involving bones of the upper limbs Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped bones of the upper limbs|Absent/small bones of the upper limbs UMLS:C4025035 peter 2008-03-28T06:16:00Z human_phenotype owl:Class HP:0100442 biolink:NamedThing Bullet-shaped distal phalanx of the 5th toe An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped outermost bone of the pinky toe|Bullet-shaped outermost bone of the little toe|Bullet-shaped outermost bone of the pinkie toe UMLS:C4022085 human_phenotype owl:Class HP:0010385 biolink:NamedThing Bullet-shaped 5th toe phalanx An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped bones of the pinkie toe|Bullet-shaped bones of the pinky toe|Bullet-shaped bones of the little toe|Bullet-shaped phalanges of the 5th toe UMLS:C4021277 doelkens 2009-07-16T11:52:18Z human_phenotype owl:Class UBERON:0010192 biolink:NamedThing genital artery One of the laterally paired arteries that supply the gonads. tmpxe7fu0cj_hp_relaxed.owl gonadal artery Wikipedia:Gonadal_artery uberon owl:Class UBERON:0005463 biolink:NamedThing subcapsular sinus of lymph node A space between the capsule and the cortex which allows the free movement of lymphatic fluid and so contains a sparsity of lymphocytes. It is continuous with the similar lymph sinuses that flank the trabeculae. tmpxe7fu0cj_hp_relaxed.owl marginal sinus|lymph path|lymph node subcortical sinus|lymph sinus|marginal sinus of lymph node|subcapsular sinus UMLS:C1518052|MA:0003027|NCIT:C33033|UMLS:C1518051|FMA:312355|NCIT:C33642|EMAPA:37662 http://upload.wikimedia.org/wikipedia/commons/6/68/Gray597.png uberon owl:Class GO:0048486 biolink:NamedThing parasympathetic nervous system development The process whose specific outcome is the progression of the parasympathetic nervous system over time, from its formation to the mature structure. The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CL:0001028 biolink:NamedThing CD7-positive lymphoid progenitor cell CD7-positive lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-positive and is CD45RA-negative. tmpxe7fu0cj_hp_relaxed.owl CD7-positive lymphoid precursor These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000040)(PMID:19243617). cell owl:Class CL:0000051 biolink:NamedThing common lymphoid progenitor A oligopotent progenitor cell committed to the lymphoid lineage. tmpxe7fu0cj_hp_relaxed.owl common lymphocyte precursor|lymphopoietic stem cell|common lymphoid precursor|CLP|common lymphocyte progenitor|early lymphocyte progenitor|lymphoid stem cell|committed lymphopoietic stem cell|ELP CLP are CD7-positive, CD10-positive, CD19-negative, CD34-positive, CD45RA-positive, CD79a-negative, CD127-positive, AA4.1-positive, RAG-negative, Sca-1-low, sIgM-negative, sIgD-negative, TdT-negative, Vpre-B-negative, and pre-BCR-negative. Expression of transcription factors include E2A-positive, EBF-positive, Ikaros-negative, PU.1-negative, and Pax5-negative. CL:0000044 cell owl:Class HP:0012669 biolink:NamedThing Carotid sinus syncope An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:51723007|MSH:D013575|UMLS:C0221046 Carotid sinus syncope cam be elicited mechanical manipulation of the carotid sinuses (eg, taking pulses in the neck, shaving). peter 2014-02-15T01:39:14Z human_phenotype owl:Class HP:0001279 biolink:NamedThing Syncope Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. tmpxe7fu0cj_hp_relaxed.owl Fainting spell UMLS:C0039070|MSH:D013575|SNOMEDCT_US:309585006|SNOMEDCT_US:271594007|SNOMEDCT_US:272030005 peter 2008-02-25T10:37:00Z owl:Class UBERON:0004908 biolink:NamedThing upper digestive tract The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum. tmpxe7fu0cj_hp_relaxed.owl upper gastrointestinal tract|upper GI tract UMLS:C0226874|galen:UpperGastrointestinalTract|Wikipedia:Alimentary_canal#Upper_gastrointestinal_tract|SCTID:181244000|FMA:49177|NCIT:C33837 uberon owl:Class WP: small intestine, large intestine, anus. Anal canal not part of LGIT according to FMA, but anus is considered part of LGIT according to WP. Duodenum overlaps both U/L. In Galen, entire GI tract excludes esophagus UBERON:0004921 biolink:NamedThing subdivision of digestive tract A proximal-distal subdivision of the digestive tract. tmpxe7fu0cj_hp_relaxed.owl alimentary system subdivision|segment of intestinal tract|subdivision of alimentary system|intestinal tract FBbt:00100315|FMA:71131 intended to denote both embryonic and adult structures. Note the FMA grouping here is not quite correct. uberon owl:Class HP:0031327 biolink:NamedThing Transthyretin cardiac amyloidosis A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining. tmpxe7fu0cj_hp_relaxed.owl TTR cardiac amyloidosis 2017-08-27 12:29:13+00:00 peter owl:Class HP:0030843 biolink:NamedThing Cardiac amyloidosis Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. tmpxe7fu0cj_hp_relaxed.owl Amyloid cardiomyopathy UMLS:C0268407|SNOMEDCT_US:16573007 The diagnosis of amyloidosis requires histological identification of amyloid deposits. Congo Red staining renders amyloid deposits salmon pink by light microscopy, with a characteristic apple green birefringence under polarized light conditions. Additional immunohistochemical staining for precursor proteins identifies the type of amyloidosis. HP:0200126 owl:Class GO:0002335 biolink:NamedThing mature B cell differentiation tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0030183 biolink:NamedThing B cell differentiation The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. tmpxe7fu0cj_hp_relaxed.owl B cell development|B-lymphocyte differentiation|B-cell differentiation|B lymphocyte differentiation Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. GO:0042115 biological_process owl:Class HP:0009499 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Epiphyseal abnormality of terminal index finger phalanx|Abnormality of the end part of the outermost bone of the index finger UMLS:C4021464 doelkens 2009-01-16T01:08:35Z HP:0004146 human_phenotype owl:Class UBERON:0006948 biolink:NamedThing efferent duct epithelium An epithelium that is part of a efferent duct. tmpxe7fu0cj_hp_relaxed.owl epithelium of efferent ductule of testis FMA:19195|MA:0001734|EMAPA:29747 uberon owl:Class CHEBI:132970 biolink:NamedThing 5-ammoniolevulinic acid A primary ammonium ion obtained by protonation of the amino group of 5-aminolevulinic acid. tmpxe7fu0cj_hp_relaxed.owl 4-carboxy-2-oxobutan-1-aminium|5-aminolevulinic acid cation|5-aminolevulinic acid(1+) +1 C5H10NO3 InChI=1S/C5H9NO3/c6-3-4(7)1-2-5(8)9/h1-3,6H2,(H,8,9)/p+1 ZGXJTSGNIOSYLO-UHFFFAOYSA-O 132.138 132.06552 C(C(=O)C[NH3+])CC(=O)O chebi_ontology owl:Class CHEBI:65296 biolink:NamedThing primary ammonium ion An ammonium ion derivative resulting from the protonation of the nitrogen atom of a primary amino compound. Major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl a primary amine|substituted ammonium +1 H3NR 17.031 17.02655 [NH3+][*] chebi_ontology owl:Class UBERON:0037455 biolink:NamedThing wall of female urethra tmpxe7fu0cj_hp_relaxed.owl female urethral wall FMA:19780 uberon owl:Class UBERON:0036521 biolink:NamedThing wall of urethra tmpxe7fu0cj_hp_relaxed.owl urethral wall FMA:19779 uberon owl:Class GO:0002694 biolink:NamedThing regulation of leukocyte activation Any process that modulates the frequency, rate, or extent of leukocyte activation. tmpxe7fu0cj_hp_relaxed.owl regulation of leucocyte activation|regulation of immune cell activation biological_process owl:Class HP:0020183 biolink:NamedThing Increased circulating A-type natriuretic peptide level A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-24 16:40:06+00:00 owl:Class CL:0000488 biolink:NamedThing visible light photoreceptor cell A photoreceptor cell that detects visible light. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class CL:0000210 biolink:NamedThing photoreceptor cell A cell specialized to detect and transduce light. tmpxe7fu0cj_hp_relaxed.owl BTO:0001060|FMA:86740|FBbt:00004211|CALOHA:TS-0868 cell owl:Class GO:0014812 biolink:NamedThing muscle cell migration The orderly movement of a muscle cell from one site to another, often during the development of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0011685 biolink:NamedThing Infra-aortic superior vena cava The superior vena cava passes below the aortic arch. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023232 The superior vena cava normally crosses superior and anterior to the aorta. peter 2012-04-10T08:36:00Z human_phenotype owl:Class HP:0025575 biolink:NamedThing Abnormal superior vena cava morphology Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart. tmpxe7fu0cj_hp_relaxed.owl 2017-12-15 23:00:56+00:00 Fyler:2820 HPO:probinson owl:Class HP:0410070 biolink:NamedThing Increased level of ribitol in urine An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose. tmpxe7fu0cj_hp_relaxed.owl 2018-01-29 22:58:41+00:00 ORCID:0000-0001-5208-3432 owl:Class UBERON:0008307 biolink:NamedThing heart endothelium An endothelium that is part of a heart [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl cardiac endothelium BTO:0004293 this class includes any endothelia that are part of the heart. This might include the endocardial epithelia, as well as endothelia of vessels that are considered strictly part of the heart (e.g. outflow tract). As a grouping class, this may lack utility, and pending review this class may be obsoleted. For annotation consider a more specific class. uberon owl:Class HP:0032003 biolink:NamedThing Green urine An abnormal green color of urine. tmpxe7fu0cj_hp_relaxed.owl 2018-07-15 22:05:52+00:00 peter owl:Class HP:0025089 biolink:NamedThing Feculent vomiting Vomiting of material that is of fecal origin. tmpxe7fu0cj_hp_relaxed.owl Fecal vomiting|Vomiting fecal matter|Stercoraceous vomiting|Vomiting faecal matter|Faecal vomiting 2016-10-24 00:38:50+00:00 Feculent vomiting is usually due to mechanical intestinal obstruction but it can be due to paralytic obstruction (adynamic ileus). HPO:probinson owl:Class HP:0002013 biolink:NamedThing Vomiting Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. tmpxe7fu0cj_hp_relaxed.owl Vomiting|Emesis|Throwing up SNOMEDCT_US:422400008|UMLS:C0042963|SNOMEDCT_US:249497008|MEDDRA:10047700|MSH:D014839|SNOMEDCT_US:300359004 human_phenotype owl:Class HP:0011684 biolink:NamedThing Non-restrictive ventricular septal defect Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:373131000|UMLS:C1298817 This term can be used in addition to another term describing the morphology of a VSD. peter 2012-04-10T08:29:05Z human_phenotype owl:Class NCBITaxon:32524 biolink:NamedThing Amniota tmpxe7fu0cj_hp_relaxed.owl amniotes GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:32523 biolink:NamedThing Tetrapoda tmpxe7fu0cj_hp_relaxed.owl tetrapods GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006050 biolink:NamedThing digit 3 A digit that is part of a digit 3 plus metapodial segment. tmpxe7fu0cj_hp_relaxed.owl third digit|limb digit 3|digit III|autopod digit 3 EMAPA:37287 uberon owl:Class 3 UBERON:0010703 biolink:NamedThing forelimb zeugopod skeleton The collection of all skeletal elements in an forelimb zeugopod region. tmpxe7fu0cj_hp_relaxed.owl anterior zeugopodium|antebrachial skeleton|forelimb epipodium|antebrachium skeleton|mesomere 2 of pectoral appendage|forelimb epipodium skeleton|radius and ulna|skeleton of forearm|wing zeugopod skeleton|fore epipodium skeleton|fore epipodium|anterior zeugopodium skeleton|forearm skeleton AAO:0000200|VSAO:0005011|FMA:71199 adding proxinally_connected_to humerus causes inconsistencies - requires investigation uberon owl:Class Segment of the forearm corresponding to the radius and ulna.[AAO] UBERON:0018142 biolink:NamedThing caudal vertebra endochondral element Any vertebra endochondral element that is part of the caudal region of the vertebral column (tail or coccyx). tmpxe7fu0cj_hp_relaxed.owl coccygeal vertebra element|coccyx vertebra element|caudal vertebra element|tail vertebra element UBERON:0015006 uberon owl:Class UBERON:0010913 biolink:NamedThing vertebral element Skeletal element that forms around the notochord and is part of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl vertebra skeletal element|vertebra endochondral element|vertebra element|vertebral endochondral element VHOG:0001143|VSAO:0000184 we include a distinct subclass for bony vertebra UBERON:0015005 uberon owl:Class In contrast to lampreys and jawed vertebrates, hagfishes were thought to lack vertebrae. Now, long overlooked vertebral rudiments have been analysed in hagfish, suggesting that vertebrae existed in the last common ancestor of all vertebrates.[well established][VHOG] vertebral Typically an endochondral element, in salamanders there is an argument that vertebral development is perichondral and not preformed in cartilage HP:0002828 biolink:NamedThing Multiple joint contractures tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:202264009|UMLS:C0158118|SNOMEDCT_US:19393004 human_phenotype owl:Class HP:0001371 biolink:NamedThing Flexion contracture A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. tmpxe7fu0cj_hp_relaxed.owl Joint contractures|Flexion contractures of joints|Contractures|Joint contracture|Contracture|Flexion contractures|Flexed joint that cannot be straightened SNOMEDCT_US:88565003|UMLS:C1850530|MSH:D003286|UMLS:C0009918|SNOMEDCT_US:55033002|SNOMEDCT_US:203598005|SNOMEDCT_US:385522000|UMLS:C0333068|SNOMEDCT_US:7890003|UMLS:C0009917|SNOMEDCT_US:57048009 HP:0005053|HP:0005189|HP:0001372|HP:0001381|HP:0005660 human_phenotype owl:Class GO:0051148 biolink:NamedThing negative regulation of muscle cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl downregulation of muscle cell differentiation|down-regulation of muscle cell differentiation|inhibition of muscle cell differentiation|down regulation of muscle cell differentiation biological_process owl:Class HP:0500193 biolink:NamedThing Increased CSF isoleucine concentration Abnormally increased levels of isoleucine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High levels of isoleucine in cerebrospinal fluid 2019-02-25 16:25:11+00:00 owl:Class HP:0500192 biolink:NamedThing Abnormal CSF isoleucine concentration Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal isoleucine levels in cerebrospinal fluid 2019-02-25 16:24:44+00:00 owl:Class GO:0002274 biolink:NamedThing myeloid leukocyte activation A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. tmpxe7fu0cj_hp_relaxed.owl myeloid leucocyte activation biological_process owl:Class GO:0001775 biolink:NamedThing cell activation A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0500227 biolink:NamedThing Increased CSF serine concentration Abnormally increased levels of serine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High serine levels in cerebrospinal fluid 2019-02-25 20:32:30+00:00 owl:Class HP:0500226 biolink:NamedThing Abnormal CSF serine concentration Any deviation from the normal concentration of serine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal serine levels in cerebrospinal fluid 2019-02-25 20:30:42+00:00 owl:Class UBERON:2005273 biolink:NamedThing intestinal mucosal muscle A thin layer of smooth muscle immediately beneath the base of the villi which permits the intestinal mucosa to dynamically move and fold. tmpxe7fu0cj_hp_relaxed.owl intestinal lamina muscularis mucosae ZFA:0005273 teleost_anatomy_curators uberon owl:Class This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon UBERON:0004713 biolink:NamedThing corpus cavernosum penis One of the columns of erectile tissue forming the dorsum and sides of the penis. tmpxe7fu0cj_hp_relaxed.owl penis erectile tissue|corpus spongiosum penis|corpus cavernosum penis|spongy body of penis|cavernous body of penis|penile corpus cavernosum|spongy body of male urethra|corpus cavernosum of penis|corpus cavernosum EMAPA:29850|NCIT:C32382|MA:0001743|NCIT:C49269|FMA:19618|UMLS:C1709494|BTO:0002019|EMAPA:29856|UMLS:C0227937 http://upload.wikimedia.org/wikipedia/commons/f/f6/Gray1155.png uberon owl:Class UBERON:0003588 biolink:NamedThing forelimb connective tissue A portion of connective tissue that is part of a forelimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl connective tissue of forelimb|wing connective tissue|connective tissue of fore limb|connective tissue of upper extremity|connective tissue of superior member|connective tissue of anteriormost limb MA:0000613|EMAPA:37314 uberon owl:Class UBERON:0018116 biolink:NamedThing right renal pelvis A renal pelvis that is part of a right ureter. tmpxe7fu0cj_hp_relaxed.owl pelvis of right kidney|pelvis of right ureter FMA:15578 uberon owl:Class UBERON:0001224 biolink:NamedThing renal pelvis A funnel shaped proximal portion of the ureter that is formed by convergence of the major calices [MP]. tmpxe7fu0cj_hp_relaxed.owl p. renallis|pelvis of ureter|kidney pelvis|pyelum GAID:426|MESH:D007682|MA:0000374|CALOHA:TS-2230|NCIT:C12887|EMAPA:17948|galen:RenalPelvis|UMLS:C0227666|FMA:15575 In this ontology, the renal pelvis is represented as the area of part-overlap between the kidney and the ureter Illu:kidney2.jpg uberon owl:Class HP:0100313 biolink:NamedThing Cerebral granulomatosis Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022150 A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). doelkens 2010-08-10T03:19:05Z human_phenotype owl:Class HP:0002060 biolink:NamedThing Abnormal cerebral morphology Any structural abnormality of the telencephalon, which is also known as the cerebrum. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the telencephalon|Cerebral lesion|Abnormality of the cerebrum UMLS:C4021762 owl:Class HP:0007759 biolink:NamedThing Opacification of the corneal stroma Reduced transparency of the stroma of cornea. tmpxe7fu0cj_hp_relaxed.owl Cloudy corneas|Corneal stromal opacity|Cloudy cornea UMLS:C1856661|UMLS:C0423250|SNOMEDCT_US:246957002 HP:0007966|HP:0007662|HP:0000515|HP:0007896 human_phenotype owl:Class HP:0007957 biolink:NamedThing Corneal opacity A reduction of corneal clarity. tmpxe7fu0cj_hp_relaxed.owl Reduction of corneal clarity|Corneal opacities|Scarring or clouding of the cornea of the eye|Corneal clouding SNOMEDCT_US:95735008|SNOMEDCT_US:413921009|SNOMEDCT_US:64634000|UMLS:C0010038|MSH:D003318|UMLS:C0521719 HP:0008502|HP:0007844|HP:0007883 human_phenotype owl:Class GO:0050768 biolink:NamedThing negative regulation of neurogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. tmpxe7fu0cj_hp_relaxed.owl inhibition of neurogenesis|downregulation of neurogenesis|down regulation of neurogenesis|down-regulation of neurogenesis biological_process owl:Class GO:0050767 biolink:NamedThing regulation of neurogenesis Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0060465 biolink:NamedThing pharynx development The biological process whose specific outcome is the progression of a pharynx from an initial condition to its mature state. The pharynx is the part of the digestive system immediately posterior to the mouth. tmpxe7fu0cj_hp_relaxed.owl pharyngeal development biological_process owl:Class GO:0097028 biolink:NamedThing dendritic cell differentiation The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. tmpxe7fu0cj_hp_relaxed.owl Note that immunologists typically use the word 'maturation' to refer to dendritic cells undergoing the process that GO describes as 'cell differentiation'. pr 2011-04-01T10:08:42Z biological_process owl:Class GO:1903131 biolink:NamedThing mononuclear cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. tmpxe7fu0cj_hp_relaxed.owl cls 2014-06-25T15:47:09Z biological_process owl:Class HP:0005262 biolink:NamedThing Abnormality of the synovia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025225 peter 2008-03-26T04:27:00Z human_phenotype owl:Class HP:0011198 biolink:NamedThing EEG with generalized epileptiform discharges EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. tmpxe7fu0cj_hp_relaxed.owl EEG with generalised epileptiform discharges UMLS:C4023476 Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. hecht 2011-11-19T11:15:46Z HP:0010842 human_phenotype owl:Class GO:0031269 biolink:NamedThing pseudopodium assembly The assembly of a pseudopodium by rearrangement of the actin cytoskeleton and overlying membrane. tmpxe7fu0cj_hp_relaxed.owl pseudopodium extension|pseudopodium formation biological_process owl:Class GO:0031268 biolink:NamedThing pseudopodium organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. tmpxe7fu0cj_hp_relaxed.owl pseudopodium organization and biogenesis|pseudopodium organisation biological_process owl:Class UBERON:0013515 biolink:NamedThing subdivision of oviduct A section through the tube or network of tubes that connects the ovaries to the outside of the body. tmpxe7fu0cj_hp_relaxed.owl uterine tube zone|zone of uterine tube|subdivision of oviduct|subdivision of uterine tube|subdivision of fallopian tube FMA:18302 uberon owl:Class FMA class may only represent the uterine portion HP:0012072 biolink:NamedThing Aciduria Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration. tmpxe7fu0cj_hp_relaxed.owl Acidic urine SNOMEDCT_US:21806007|UMLS:C0278026 owl:Class HP:0032943 biolink:NamedThing Abnormal urine pH A deviation of urine pH from the normal range of 4.5 to 7.8. tmpxe7fu0cj_hp_relaxed.owl Urine pH typically is 5 as a result of daily net acid excretion. The interpretation of the urine pH depends on the medical context. peter owl:Class GO:0009306 biolink:NamedThing protein secretion The controlled release of proteins from a cell. tmpxe7fu0cj_hp_relaxed.owl protein secretion resulting in cell fate commitment|protein secretion during cell fate commitment|glycoprotein secretion GO:0045731|GO:0045166 biological_process owl:Class HP:0001084 biolink:NamedThing Corneal arcus A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years. tmpxe7fu0cj_hp_relaxed.owl Anterior embryotoxon|Arcus juvenilis|Arcus senilis|Corneal annulus|Arcus lipoidis|Gerontoxon UMLS:C0003742|SNOMEDCT_US:231925004|SNOMEDCT_US:231924000|SNOMEDCT_US:111522004|MSH:D001112|UMLS:C0339268 A grey opaque line which surrounds the margin of the cornea caused by lipid deposits. HP:0100741 human_phenotype owl:Class HP:0008011 biolink:NamedThing Peripheral opacification of the cornea Reduced transparency of the peripheral region of the cornea. tmpxe7fu0cj_hp_relaxed.owl Peripheral corneal opacity SNOMEDCT_US:55713007|UMLS:C0155100 human_phenotype owl:Class GO:0090299 biolink:NamedThing regulation of neural crest formation Any process that modulates the rate, frequency, or extent of neural crest formation. Neural crest formation is the formation of the specialized region of ectoderm between the neural ectoderm (neural plate) and non-neural ectoderm. The neural crest gives rise to the neural crest cells that migrate away from this region as neural tube formation proceeds. tmpxe7fu0cj_hp_relaxed.owl tb 2010-03-12T04:08:26Z biological_process owl:Class GO:0004618 biolink:NamedThing phosphoglycerate kinase activity Catalysis of the reaction: 3-phospho-D-glycerate + ATP = 3-phospho-D-glyceroyl phosphate + ADP + H(+). tmpxe7fu0cj_hp_relaxed.owl ATP:D-3-phosphoglycerate 1-phosphotransferase activity|3-phosphoglycerate phosphokinase activity|ATP:3-phospho-D-glycerate 1-phosphotransferase activity|glycerate 3-phosphate kinase activity|3-phosphoglyceric acid phosphokinase activity|3-PGK|ATP-3-phospho-D-glycerate-1-phosphotransferase activity|3-phosphoglyceric acid kinase activity|3-phosphoglyceric kinase activity|3-phosphoglycerate kinase activity|PGK|glycerophosphate kinase activity|phosphoglyceric acid kinase activity|phosphoglyceric kinase activity|phosphoglycerokinase activity Reactome:R-HSA-71850|EC:2.7.2.3|RHEA:14801|Reactome:R-HSA-70486|KEGG_REACTION:R01512|MetaCyc:PHOSGLYPHOS-RXN molecular_function owl:Class GO:0016301 biolink:NamedThing kinase activity Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpxe7fu0cj_hp_relaxed.owl phosphokinase activity Reactome:R-HSA-6788867|Reactome:R-HSA-6788855 Note that this term encompasses all activities that transfer a single phosphate group; although ATP is by far the most common phosphate donor, reactions using other phosphate donors are included in this term. molecular_function owl:Class GO:0034762 biolink:NamedThing regulation of transmembrane transport Any process that modulates the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. tmpxe7fu0cj_hp_relaxed.owl regulation of membrane transport biological_process owl:Class HP:0011801 biolink:NamedThing Enlargement of parotid gland Increased size of the parotid gland. tmpxe7fu0cj_hp_relaxed.owl Hypertrophy of parotid gland|Hyperplasia of parotid gland|Increased size of parotid gland UMLS:C0341047|SNOMEDCT_US:29748005 peter 2012-04-24T07:59:05Z human_phenotype owl:Class HP:0000197 biolink:NamedThing Abnormal parotid gland morphology Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. tmpxe7fu0cj_hp_relaxed.owl Anomaly of the parotid gland|Abnormality of parotid gland UMLS:C4025880 human_phenotype owl:Class GO:0071869 biolink:NamedThing response to catecholamine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a catecholamine stimulus. A catecholamine is any of a group of biogenic amines that includes 4-(2-aminoethyl)pyrocatechol [4-(2-aminoethyl)benzene-1,2-diol] and derivatives formed by substitution. tmpxe7fu0cj_hp_relaxed.owl response to catecholamine stimulus mah 2010-09-13T02:51:13Z biological_process owl:Class HP:0012839 biolink:NamedThing Distal Localized away from the central point of the body. tmpxe7fu0cj_hp_relaxed.owl Outermost UMLS:C0205108|SNOMEDCT_US:46053002 peter 2014-06-06T07:29:38Z human_phenotype owl:Class GO:0004967 biolink:NamedThing glucagon receptor activity Combining with glucagon and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class UBERON:0000993 biolink:NamedThing oviduct A tube or collection of tubes in an animal from the ovaries to the outside of the body. tmpxe7fu0cj_hp_relaxed.owl ovarian duct|ovarian tube|tuba uterinae|oviducts|tuba uterina|uterine tube|tubular parts of female reproductive system|female reproductive tracts BTO:0000980|VHOG:0001136|EFO:0000974|MIAA:0000126|MAT:0000126|MESH:D010057|NCIT:C77957|XAO:0003052|BSA:0000083|UMLS:C0029954|GAID:366|TAO:0000560|EMAPA:18984|AAO:0010533|ZFA:0000560 sometimes oviduct is used interchangeably with follaopian tube. Here they are different - the oviduct connects the gonad to the outside in a variety of animals. The mammal-class fallopian tube is derived from the mullerian duct and connects the gonads/infubdibulum to the uterus uberon owl:Class A passage through which ova leave the maternal body or pass to an organ communicating with the exterior of the body. [TFD][VHOG] In all remaining vertebrates (i.e., coelacanths, lungfishes, amphibians, reptiles, birds, and mammals), the oviduct arises in ontogeny as a longitudinal, groovelike invagination of the coelomic epithelium on the lateral surface of the mesonephros.[well established][VHOG] in birds divided into infundibulum, magnum, isthmus, uterus, and vagina|The only female vertebrates to lack oviducts are the jawless fishes. In these species, the single fused ovary releases eggs directly into the body cavity. The fish eventually extrudes the eggs through small genital pores towards the rear of the body[WP] HP:0100189 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the middle bone of the 4th toe UMLS:C4022232 doelkens 2010-06-24T04:54:13Z human_phenotype owl:Class HP:0100095 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the middle bone of the 4th toe UMLS:C4022326 doelkens 2010-06-24T10:02:24Z human_phenotype owl:Class UBERON:0016479 biolink:NamedThing capsule of liver A collagenous capsule covering the external surface of the liver. tmpxe7fu0cj_hp_relaxed.owl hepatic capsule|fibrous capsule of Glisson|fibrous capsule of liver|tunica fibrosa hepatis|tunica fibrosa (hepar)|glisson's capsule|liver capsule|capsula fibrosa perivascularis FMA:15813 uberon owl:Class It consists of type III collagen and extends to the stroma of endothelial sinusoids. It is covered by a single layer of mesothelial cells. HP:0020185 biolink:NamedThing Superior cerebellar dysplasia Abnormal morphological development of the superior part of the cerebellum. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-09-03 12:21:50+00:00 owl:Class UBERON:0010570 biolink:NamedThing manual digit 1 metacarpus cartilage element A manual digit metacarpus cartilage element that is part of a manual digit 1 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl hand digit 1 metacarpus cartilage element|fore limb digit 1 metacarpus cartilage element|metacarpus 1 cartilage element|finger 1 metacarpus cartilage element|manual digit I metacarpus cartilage element EMAPA:18065|EHDAA2:0000514 uberon owl:Class UBERON:0010699 biolink:NamedThing manual digit metacarpus cartilage element tmpxe7fu0cj_hp_relaxed.owl hand digit metacarpus cartilage element|metacarpal cartilage condensation|metacarpus cartilage element|fore limb digit metacarpus cartilage element|finger metacarpus cartilage element|metacarpal cartilage element EMAPA:32849 uberon owl:Class HP:0004918 biolink:NamedThing Hyperchloremic metabolic acidosis A form of metabolic acidosis with increased serum chloride levels. tmpxe7fu0cj_hp_relaxed.owl Non-gap acidosis UMLS:C1969073 owl:Class HP:0001995 biolink:NamedThing Hyperchloremic acidosis Acidosis (pH less than 7.35) that develops with an increase in ionic chloride. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0085569|SNOMEDCT_US:18104000 owl:Class UBERON:0005207 biolink:NamedThing tonsil capsule A capsule that is part of a tonsil [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:294647|MA:0000776 uberon owl:Class UBERON:0003893 biolink:NamedThing capsule A cover or envelope partly or wholly surrounding a structure. Examples: egg shell, articular capsules, renal capsules[WP]. tmpxe7fu0cj_hp_relaxed.owl FMA:85272|EHDAA:4739|EHDAA:9061|galen:Capsule see also: protective structure surrounding some species of bacteria and fungi. Note that FMA has classes such as Articular capsule that are not subtypes of Capsule (which is undefined in FMA). GO has 'capsule' which is a fungal structure, and 'external encapsulating structure' which is restricted to cells uberon owl:Class capsular CL:0002589 biolink:NamedThing smooth muscle cell of the brachiocephalic vasculature A smooth muscle cell of the bachiocephalic vasculature. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-03-06T05:00:58Z cell owl:Class CL:0019018 biolink:NamedThing blood vessel smooth muscle cell A smooth muscle cell that is part of any blood vessel. tmpxe7fu0cj_hp_relaxed.owl smooth muscle cell of blood vessel 2020-07-21 12:42:48+00:00 owl:Class HP:0005667 biolink:NamedThing Os odontoideum Separation of the odontoid process from the body of the axis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2919848|SNOMEDCT_US:445242006 With os odontoideum, the caudal fragment of the odontoid process may provide deficient stability for the atlantoaxial joint and lead to subsequent instability or dislocation and neurological deficits. human_phenotype owl:Class HP:0003310 biolink:NamedThing Abnormality of the odontoid process Abnormality of the dens of the axis, which is also known as the odontoid process. tmpxe7fu0cj_hp_relaxed.owl Abnormal odontoid process|Abnormal odontoid peg UMLS:C1864794 The dens of the axis is a protuberance of the C2 vertebral body around which the first vertebra rotates. HP:0004600 human_phenotype owl:Class HP:0008200 biolink:NamedThing Primary hyperparathyroidism A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. tmpxe7fu0cj_hp_relaxed.owl MSH:D049950|SNOMEDCT_US:36348003|UMLS:C0221002 HP:0008254 human_phenotype owl:Class HP:0000843 biolink:NamedThing Hyperparathyroidism Excessive production of parathyroid hormone (PTH) by the parathyroid glands. tmpxe7fu0cj_hp_relaxed.owl Elevated blood parathyroid hormone level SNOMEDCT_US:66999008|MSH:D006961|UMLS:C0020502 human_phenotype owl:Class UBERON:0002787 biolink:NamedThing decussation of trochlear nerve The crossing of the two trochlear nerves at their exit through the velum medullare anterius. tmpxe7fu0cj_hp_relaxed.owl decussatio fibrarum nervorum trochlearium|decussation of the trochlear nerve|decussation of trochlear nerve (IV)|decussatio trochlearis|trochlear decussation|decussation of trochlear nerve fibers|decussatio nervorum trochlearium|trochlear nerve decussation|trochlear neural decussation http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=595|MBA:384|UMLS:C0175448|BAMS:4x|DHBA:12338|BIRNLEX:1690|BAMS:IVd|FMA:72488 uberon owl:Class UBERON:0007418 biolink:NamedThing neural decussation Nerve fibers crossing the midline of the neuraxis relative to their point of origin, on a course to from one level of the nervous system to another. (CUMBO, Heimer, L. The Human Brain, 2nd ed., 1995, pg 6). tmpxe7fu0cj_hp_relaxed.owl neuraxis decussation|decussation of neuraxis|chiasma|chiasm|decussation|neuraxis chiasm|neuraxis chiasma NLX:144064|FMA:83858|NCIT:C28351 uberon owl:Class GO:1901464 biolink:NamedThing negative regulation of tetrapyrrole biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of tetrapyrrole biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl down regulation of tetrapyrrole biosynthetic process|down regulation of tetrapyrrole formation|negative regulation of tetrapyrrole anabolism|negative regulation of tetrapyrrole biosynthesis|down-regulation of tetrapyrrole anabolism|downregulation of tetrapyrrole formation|down-regulation of tetrapyrrole synthesis|inhibition of tetrapyrrole anabolism|downregulation of tetrapyrrole anabolism|down-regulation of tetrapyrrole formation|down regulation of tetrapyrrole biosynthesis|inhibition of tetrapyrrole biosynthesis|down regulation of tetrapyrrole synthesis|downregulation of tetrapyrrole biosynthetic process|down-regulation of tetrapyrrole biosynthesis|inhibition of tetrapyrrole biosynthetic process|down-regulation of tetrapyrrole biosynthetic process|inhibition of tetrapyrrole synthesis|negative regulation of tetrapyrrole synthesis|downregulation of tetrapyrrole biosynthesis|downregulation of tetrapyrrole synthesis|negative regulation of tetrapyrrole formation|inhibition of tetrapyrrole formation|down regulation of tetrapyrrole anabolism tt 2012-10-02T14:35:26Z biological_process owl:Class UBERON:0003243 biolink:NamedThing epithelium of cochlear duct An epithelium that is part of a cochlear duct of membranous labyrinth [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl cochlear duct epithelial tissue|cochlear duct of membranous labyrinth epithelium|epithelium of cochlear duct of membranous labyrinth|epithelium of Reissner's canal|epithelial tissue of cochlear duct of membranous labyrinth|Reissner's canal epithelial tissue|epithelial tissue of Reissner's canal|cochlear duct epithelium|cochlear duct of membranous labyrinth epithelial tissue|Reissner's canal epithelium|epithelial tissue of cochlear duct EHDAA:4722|EMAPA:17600|VHOG:0000640|RETIRED_EHDAA2:0000264 uberon owl:Class HP:0005546 biolink:NamedThing Increased red cell osmotic resistance tmpxe7fu0cj_hp_relaxed.owl UMLS:C1858628 human_phenotype owl:Class HP:0020054 biolink:NamedThing Abnormal erythrocyte physiology Any functional abnormality of erythrocytes (red-blood cells). tmpxe7fu0cj_hp_relaxed.owl 2018-09-28 23:39:07+00:00 robinp owl:Class UBERON:0016422 biolink:NamedThing compact bone of long bone A compact bone tissue that is part of a bone tissue of long bone. tmpxe7fu0cj_hp_relaxed.owl FMA:32674 uberon owl:Class UBERON:0001439 biolink:NamedThing compact bone tissue The outer layers of solid, hard bone that covers spongy bone; consists of parallel osteons containing mineral deposits and interstitial lamellae. tmpxe7fu0cj_hp_relaxed.owl compact bone tissue|compact bone|cortical bone|cortical bone tissue|bony cortex|substantia compacta (pars ossea)|substantia corticalis|substantia compacta|cortical region of bone EMAPA:35250|FMA:24018|NCIT:C52714|UMLS:C0222661|MA:0001461|galen:CorticalBone MP distinguishes compact/cortical bone. in other AOs they are syns uberon owl:Class CHEBI:63473 biolink:NamedThing aromatic amino-acid anion An aromatic amino acid whose alpha-carboxylic acid group is ionized (non-protonated). tmpxe7fu0cj_hp_relaxed.owl aromatic amino-acid anions chebi_ontology owl:Class GO:0019538 biolink:NamedThing protein metabolic process The chemical reactions and pathways involving a protein. Includes protein modification. tmpxe7fu0cj_hp_relaxed.owl protein metabolism and modification|protein metabolism|protein metabolic process and modification|multicellular organismal protein metabolic process Wikipedia:Protein_metabolism GO:0044268|GO:0006411 biological_process owl:Class GO:1901564 biolink:NamedThing organonitrogen compound metabolic process The chemical reactions and pathways involving organonitrogen compound. tmpxe7fu0cj_hp_relaxed.owl organonitrogen compound metabolism pr 2012-11-04T15:17:52Z biological_process owl:Class CHEBI:62937 biolink:NamedThing icosanoid anion The carboxylic acid anion that is the conjugate base of an icosanoid, formed when the carboxy group is deprotonated. tmpxe7fu0cj_hp_relaxed.owl icosanoid anion|icosanoid anions|eicosanoid anion|eicosanoid anions chebi_ontology owl:Class HP:0031289 biolink:NamedThing White papule A papule with white color. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 20:48:57+00:00 peter owl:Class HP:0200034 biolink:NamedThing Papule A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. tmpxe7fu0cj_hp_relaxed.owl Skin papules|Papules SNOMEDCT_US:443871003|SNOMEDCT_US:25694009|UMLS:C0332563|MEDDRA:10033733 sebastiankohler 2010-06-18T01:38:03Z human_phenotype owl:Class UBERON:0005290 biolink:NamedThing myelencephalon The posterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the medulla oblongata and a portion of the fourth ventricle; as well as the glossopharyngeal nerve (CN IX), vagus nerve (CN X), accessory nerve (CN XI), hypoglossal nerve (CN XII), and a portion of the vestibulocochlear nerve (CN VIII).[BTO,WP]. tmpxe7fu0cj_hp_relaxed.owl myelencephalon (medulla oblongata) CALOHA:TS-2365|HBA:9512|DHBA:10662|BTO:0000758|EHDAA:5526|VHOG:0000456|MA:0000205|Wikipedia:Myelencephalon|CALOHA:TS-0607|EMAPA:17082|EHDAA2:0001207 http://upload.wikimedia.org/wikipedia/commons/5/54/EmbryonicBrain.svg uberon owl:Class The posterior of the two brain vesicles formed by specialization of the rhombencephalon in the developing embryo, it comprises the medulla oblongata. [TFD][VHOG] The early development of most vertebrate brains is similar (...). The zebrafish neural tube follows the same basic differentiation pattern as the mammalian neural tube (reference 1); The brain develops from three embryonic enlargements of the neural tube, which later differentiate into five regions. A forebrain differentiates into telencephalon and diencephalon. The midbrain, or mesencephalon, remains undivided. The hindbrain divides into the metencephalon and myelencephalon. Cavities within the brain enlarge to form a series of interconnected ventricles (reference 2).[well established][VHOG] the terms metencephalon and myelencephalon are only meaningful in mammals and birds - Neuroanatomy of the Zebrafish Brain. Note that its not clear if this refers to the developing medulla oblongata - MA (adult) has two distinct classes GO:1904751 biolink:NamedThing positive regulation of protein localization to nucleolus Any process that activates or increases the frequency, rate or extent of protein localization to nucleolus. tmpxe7fu0cj_hp_relaxed.owl activation of protein localization in nucleolus|up-regulation of protein localisation in nucleolus|up-regulation of protein localisation to nucleolus|upregulation of protein localisation in nucleolus|up regulation of protein localisation to nucleolus|up-regulation of protein localization in nucleolus|activation of protein localisation in nucleolus|positive regulation of protein localisation to nucleolus|up regulation of protein localisation in nucleolus|activation of protein localisation to nucleolus|activation of protein localization to nucleolus|up-regulation of protein localization to nucleolus|positive regulation of protein localisation in nucleolus|up regulation of protein localization to nucleolus|up regulation of protein localization in nucleolus|upregulation of protein localization to nucleolus|upregulation of protein localisation to nucleolus|upregulation of protein localization in nucleolus|positive regulation of protein localization in nucleolus nc 2015-10-19T15:16:30Z biological_process owl:Class CHEBI:33664 biolink:NamedThing monocyclic hydrocarbon tmpxe7fu0cj_hp_relaxed.owl monocyclic hydrocarbons|monocyclic hydrocarbon chebi_ontology owl:Class UBERON:0008321 biolink:NamedThing deep artery of penis The deep artery of the penis (artery to the corpus cavernosum), one of the terminal branches of the internal pudendal, arises from that vessel while it is situated between the two fascia of the urogenital diaphragm (deep perineal pouch). It pierces the inferior fascia, and, entering the crus penis obliquely, runs forward in the center of the corpus cavernosum penis, to which its branches are distributed. tmpxe7fu0cj_hp_relaxed.owl deep penile artery|arteria profunda penis|arteria cavernosa penis|cavernosal artery FMA:19794|BTO:0005086 http://upload.wikimedia.org/wikipedia/commons/2/2b/Gray543.png uberon owl:Class GO:0048714 biolink:NamedThing positive regulation of oligodendrocyte differentiation Any process that activates or increases the frequency, rate or extent of oligodendrocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl stimulation of oligodendrocyte differentiation|up regulation of oligodendrocyte differentiation|upregulation of oligodendrocyte differentiation|activation of oligodendrocyte differentiation|up-regulation of oligodendrocyte differentiation biological_process owl:Class GO:0045687 biolink:NamedThing positive regulation of glial cell differentiation Any process that activates or increases the frequency, rate or extent of glia cell differentiation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of neuroglia differentiation|up-regulation of glial cell differentiation|activation of glial cell differentiation|up regulation of glial cell differentiation|upregulation of glial cell differentiation|stimulation of glial cell differentiation|positive regulation of glia cell differentiation biological_process owl:Class GO:1905311 biolink:NamedThing negative regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of cardiac neural crest cell migration involved in outflow tract morphogenesis. tmpxe7fu0cj_hp_relaxed.owl downregulation of cardiac neural crest cell migration involved in outflow tract morphogenesis|down-regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis|inhibition of cardiac neural crest cell migration involved in outflow tract morphogenesis|down regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis rl 2016-07-11T17:34:35Z biological_process owl:Class GO:0030336 biolink:NamedThing negative regulation of cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. tmpxe7fu0cj_hp_relaxed.owl inhibition of cell migration|down-regulation of cell migration|down regulation of cell migration|downregulation of cell migration biological_process owl:Class GO:0043589 biolink:NamedThing skin morphogenesis The process in which the anatomical structures of the skin are generated and organized. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner, sensitive and vascular dermis (cutis, corium or true skin) composed mostly of connective tissue. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009322 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 3rd finger An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the middle bone of the middle finger UMLS:C4024443 doelkens 2009-01-12T11:15:44Z human_phenotype owl:Class HP:0000276 biolink:NamedThing Long face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). tmpxe7fu0cj_hp_relaxed.owl Long face|Vertical elongation of face|Vertical hyperplasia of face|Elongation of face|Vertical excess of face|Long facies|Vertical enlargement of face|Vertical overgrowth of face|Increased length of face|Increased vertical dimension of face|Increased height of face|Vertical Facial Excess UMLS:C1836047 Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. HP:0000334 human_phenotype owl:Class HP:0100729 biolink:NamedThing Large face tmpxe7fu0cj_hp_relaxed.owl Big face|Large face|Large facies UMLS:C2748652 doelkens 2011-06-06T04:50:47Z human_phenotype owl:Class GO:0033033 biolink:NamedThing negative regulation of myeloid cell apoptotic process Any process that stops, prevents, or reduces the frequency, rate, or extent of a myeloid cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl down regulation of myeloid cell apoptosis|down-regulation of myeloid cell apoptosis|downregulation of myeloid cell apoptosis|inhibition of myeloid cell apoptosis|negative regulation of myeloid cell apoptosis biological_process owl:Class GO:0033032 biolink:NamedThing regulation of myeloid cell apoptotic process Any process that modulates the frequency, rate, or extent of myeloid cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of myeloid cell apoptosis biological_process owl:Class HP:0001072 biolink:NamedThing Thickened skin Laminar thickening of skin. tmpxe7fu0cj_hp_relaxed.owl Pachydermia|Diffusely thickened skin|Thickened skin|Thick skin SNOMEDCT_US:69943009|MEDDRA:10040936|SNOMEDCT_US:17417006|UMLS:C4020878|UMLS:C0334008 HP:0007393 human_phenotype owl:Class HP:0011121 biolink:NamedThing Abnormality of skin morphology Any morphological abnormality of the skin. tmpxe7fu0cj_hp_relaxed.owl Abnormal skin structure|Abnormal skin morphology Fyler:4133|UMLS:C4023528 peter 2011-06-12T10:03:23Z human_phenotype owl:Class HP:0032205 biolink:NamedThing Increased circulating galectin-3 level An increased circulation of galectin-3 in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-01-20 15:21:52+00:00 Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and triggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodelling. peter owl:Class GO:0050840 biolink:NamedThing extracellular matrix binding Binding to a component of the extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl adhesive extracellular matrix constituent|extracellular matrix constituent binding molecular_function owl:Class HP:0030614 biolink:NamedThing Foveal photoreceptor layer loss on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073084 owl:Class HP:0004780 biolink:NamedThing Elbow hypertrichosis Excessive, increased hair growth located in the elbow region. tmpxe7fu0cj_hp_relaxed.owl Pilosity of elbow|Hairy elbow|Hairy elbow syndrome|Hypertrichosis cubiti UMLS:C4025295 human_phenotype owl:Class HP:0009027 biolink:NamedThing Foot dorsiflexor weakness Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. tmpxe7fu0cj_hp_relaxed.owl Inability to heel walk|Footdrop|Foot extensor weakness|Foot drop|Inability to walk on heels SNOMEDCT_US:6077001|UMLS:C1866141|UMLS:C0085684 Dorsiflexion of the foot extends the foot superiorly, as if taking the foot off the gas pedal. HP:0003377 owl:Class UBERON:0004122 biolink:NamedThing genitourinary system Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction. tmpxe7fu0cj_hp_relaxed.owl Urogenitalsystem|UG tract|genito-urinary system|genitourinary tract|urogenital system|urogenital tract|GU tract UMLS:C0042066|FMA:280610|BTO:0003091|EFO:0003864|BILA:0000122|EV:0100094|OpenCyc:Mx4rQRpVMgAKEdyHxgDggVfs8g|GAID:362|MESH:D014566|AAO:0000624|galen:GenitoUrinarySystem|EMAPA:16367|EHDAA:1013|VHOG:0000286|NCIT:C12810|XAO:0000140 uberon owl:Class Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction.[AAO] relationship type change: differentiates_from intermediate mesoderm (AAO:0010575) CHANGED TO: develops_from intermediate mesoderm (UBERON:0003064)[AAO] Kidneys and gonads (of vertebrates) develop from adjacent tissues, and after the excretory or urinary ducts have developed, the reproductive system usually taps into them or their derivatives.[well established][VHOG] genitourinary|urogenital UBERON:0010011 biolink:NamedThing collection of basal ganglia Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum. tmpxe7fu0cj_hp_relaxed.owl basal ganglia set|set of basal nuclei|basal nuclei|basal ganglia|cerebral nuclei|set of basal ganglia|subcortical nuclei|basal nuclei (basal ganglia) PBA:128012596|PBA:4001|BAMS:BG|HBA:4275|DHBA:10331|EMAPA:32673|VHOG:0001696|FMA:84013|GAID:617|NCIT:C12447|HBA:4276|BIRNLEX:826|MBA:623|UMLS:C0004781|BM:Tel-BG|MA:0000184|MESH:A08.186.211.730.885.105 it is necessary to introduce two classes, one representing an individual basal ganglion, another representing the aggregate structure, in order to have consistent classification amongst AOs (e.g. in MA the aygdala is part of the BG, in FMA and BTO it is a subclass). Apart from achieving this consistency, the value of having two distinct classes is questionable, since the BG-plural is trivially the collection of all BGs-singular. it would be better for all AOs to decide on one single way of doing this. Do not merge until this is done. uberon owl:Class All nuclei of the mammalian basal ganglia are also present in the oldest vertebrates.[well established][VHOG] UBERON:0010009 biolink:NamedThing aggregate regional part of brain A regional part of brain consisting of multiple brain regions that are not related through a simple volummetric part of hierarchy, e.g., basal ganglia[NIF]. tmpxe7fu0cj_hp_relaxed.owl set of nuclei of neuraxis FMA:256381|NLXANAT:20090509 May be obsoleted. uberon owl:Class UBERON:0034708 biolink:NamedThing cerebellum marginal layer tmpxe7fu0cj_hp_relaxed.owl MZCB|marginal zone of cerebellum EHDAA2:0001152|DHBA:12695|EMAPA:17789 uberon owl:Class In the cerebellum, some neuronal precursors enter the marginal zone to form clusters of neurons called nuclei[NBK10047] UBERON:0034709 biolink:NamedThing hindbrain marginal layer tmpxe7fu0cj_hp_relaxed.owl marginal zone of hindbrain|MZH DHBA:12694|EMAPA:32916 uberon owl:Class HP:0000496 biolink:NamedThing Abnormality of eye movement An abnormality in voluntary or involuntary eye movements or their control. tmpxe7fu0cj_hp_relaxed.owl Ocular movement abnormalities|Abnormal movement of the globe of the eye|Abnormal ocular movements|Eye movement abnormalities|Abnormal extraocular movement|Eye movement issue|Oculomotor abnormalities|Abnormal motility of the globe of the eye|Abnormal extraocular movements|Abnormal eye movement|Abnormality of eye movement|Abnormal eye motility|Abnormal eye movements SNOMEDCT_US:103252009|UMLS:C0497202 HP:0006860 owl:Class HP:0410138 biolink:NamedThing Vibratory urticaria Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. tmpxe7fu0cj_hp_relaxed.owl 2018-03-02 20:14:35+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0200138 biolink:NamedThing Bilateral choanal atresia/stenosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021884 sebastiankohler 2013-06-12T11:08:52Z human_phenotype owl:Class HP:0004502 biolink:NamedThing Bilateral choanal atresia Bilateral absence (atresia) of the posterior nasal aperture (choana). tmpxe7fu0cj_hp_relaxed.owl Bilateral blockage of the rear opening of the nasal cavity|Bilateral obstruction of the rear opening of the nasal cavity UMLS:C4025317 human_phenotype owl:Class HP:0032921 biolink:NamedThing Focal impaired awareness pedal automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class CHEBI:25354 biolink:NamedThing mineralocorticoid Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. tmpxe7fu0cj_hp_relaxed.owl mineralocorticoids chebi_ontology owl:Class CHEBI:36699 biolink:NamedThing corticosteroid hormone Any of a class of steroid hormones that are produced in the adrenal cortex. tmpxe7fu0cj_hp_relaxed.owl adrenal cortex hormones|corticosteroid hormones chebi_ontology owl:Class UBERON:0002926 biolink:NamedThing gustatory epithelium A sensory epithelium that is part of a gustatory system. tmpxe7fu0cj_hp_relaxed.owl http://uri.neuinfo.org/nif/nifstd/nifext_12|FMA:62412 uberon owl:Class UBERON:0006934 biolink:NamedThing sensory epithelium Simple columnar epithelium made up of cells specialized to serve as sensory cells for the reception of external stimuli, as the sensory cells of the cochlea, vestibule, nasal mucosa, and tongue. tmpxe7fu0cj_hp_relaxed.owl neuroepithelium SCTID:309045006|CALOHA:TS-0682|FMA:62410 uberon owl:Class note that the definition sourced from Dorlands say 'simple columnar', but FMA says atypical UBERON:0015479 biolink:NamedThing scrotum skin A zone of skin that is part of a scrotum. tmpxe7fu0cj_hp_relaxed.owl skin of scrotum|scrotal skin FMA:20432|EMAPA:36411|MA:0003093 uberon owl:Class UBERON:0002169 biolink:NamedThing alveolar sac The small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters. tmpxe7fu0cj_hp_relaxed.owl air sac|pulmonary alveolar sac|sacculus alveolaris BTO:0000061|FMA:7317|MA:0000418|UMLS:C0225691|OpenCyc:Mx4rwCvh75wpEbGdrcN5Y29ycA|EMAPA:35119|NCIT:C32057 UBERON:0008871 uberon owl:Class HP:0041189 biolink:NamedThing Fractured epiphysis of femur A partial or complete breakage of the epiphysis of femur. tmpxe7fu0cj_hp_relaxed.owl bone epiphysis of femur owl:Class HP:0010691 biolink:NamedThing Mirror image foot polydactyly Mirror image duplication of digits affecting the feet. tmpxe7fu0cj_hp_relaxed.owl Mirror image dupliction of toes UMLS:C4021238 doelkens 2010-03-05T05:05:05Z human_phenotype owl:Class HP:0010689 biolink:NamedThing Mirror image polydactyly A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes. tmpxe7fu0cj_hp_relaxed.owl Mirror image duplication of digits MSH:C535689|UMLS:C1851100|SNOMEDCT_US:715440003 Transplantation of the ZPA (zone of polarised activity) to the anterior margin of a limb bud in the chick results in mirror image duplication of limb elements (Tabin, 1991). Similarly, mirror image duplication in the forelimb of the mouse has been observed with ectopic expression of Hox b-8 (Charit6 et al, 1994). Mirror hand anomaly in humans has been shown to be due to either aberrant positioning of the ZPA or altered inductive interactions of the Shh gene resulting in impairment of the mechanism responsible for the organization and differentiation of the limb bud, rather than a primary duplication event. In other words, the primary event results in failure of the radial ray to develop. The ulnar area will then induce the differentiation of two groups of ulnar rays. Timing of this insult could play a critical role in severity of this phenotypic feature. Syndromal mirror hand is probably due to agene mutation of the Shh gene (Hersh et al, 1995). Finally, the multiple hand deformity may be explained by true duplication of the ZPA. doelkens 2010-03-05T05:03:16Z human_phenotype owl:Class HP:0100163 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the innermost bone of the 3rd toe UMLS:C4022258 doelkens 2010-06-24T10:24:45Z human_phenotype owl:Class HP:0100905 biolink:NamedThing Sclerosis of the middle phalanx of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the middle bone of the middle finger UMLS:C4021937 human_phenotype owl:Class HP:0100919 biolink:NamedThing Sclerosis of 3rd finger phalanx An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in middle finger bone|Sclerosis of the phalanges of the 3rd finger UMLS:C4020936 human_phenotype owl:Class UBERON:0003552 biolink:NamedThing telencephalon pia mater A pia mater that is part of a telencephalon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pia mater of telencephalon|telencephalon pia mater of neuraxis|pia mater of neuraxis of telencephalon MA:0000982|VHOG:0000476|EMAPA:17777|EHDAA2:0001992 uberon owl:Class Pia mater that is part of the telencephalon. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] UBERON:0003550 biolink:NamedThing forebrain pia mater A pia mater that is part of a forebrain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pia mater of forebrain|forebrain pia mater of neuraxis|pia mater of neuraxis of forebrain EMAPA:17767|EMAPA:37546|EMAPA:17777|MA:0000886 uberon owl:Class UBERON:0003860 biolink:NamedThing hindlimb mesenchyme Mesenchyme that is part of a developing hindlimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl inferior member mesenchyme|mesenchyme of hind limb|lower extremity mesenchyme|hind limb mesenchyme|mesenchyme of lower extremity|mesenchyme of hindlimb|mesenchyme of inferior member EMAPA:32637|VHOG:0001074 uberon owl:Class HP:0008969 biolink:NamedThing Leg muscle stiffness tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024610 human_phenotype owl:Class HP:0003552 biolink:NamedThing Muscle stiffness A condition in which muscles cannot be moved quickly without accompanying pain or spasm. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0221170|SNOMEDCT_US:16046003 HP:0009014 human_phenotype owl:Class GO:0009416 biolink:NamedThing response to light stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:26401 biolink:NamedThing purines A class of imidazopyrimidines that consists of purine and its substituted derivatives. tmpxe7fu0cj_hp_relaxed.owl 0 C5N4R7 116.080 116.01230 CHEBI:13678 chebi_ontology owl:Class CHEBI:35875 biolink:NamedThing imidazopyrimidine tmpxe7fu0cj_hp_relaxed.owl imidazopyrimidines chebi_ontology owl:Class HP:0032897 biolink:NamedThing Focal impaired awareness sensory seizure with gustatory features A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032787 biolink:NamedThing Focal impaired awareness sensory seizure A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0060041 biolink:NamedThing retina development in camera-type eye The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. tmpxe7fu0cj_hp_relaxed.owl retina development in camera-style eye|retinal development GO:0002073 biological_process owl:Class GO:0070171 biolink:NamedThing negative regulation of tooth mineralization Any process that stops, prevents, or reduces the frequency, rate or extent of tooth mineralization, the deposition of calcium salts in tooth structures. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0070170 biolink:NamedThing regulation of tooth mineralization Any process that modulates the frequency, rate or extent of tooth mineralization, the deposition of calcium salts in tooth structures. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1902107 biolink:NamedThing positive regulation of leukocyte differentiation Any process that activates or increases the frequency, rate or extent of leukocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of immune cell differentiation|activation of leukocyte differentiation|up regulation of leukocyte differentiation|up-regulation of immune cell differentiation|upregulation of leucocyte differentiation|up-regulation of leucocyte differentiation|upregulation of immune cell differentiation|activation of leucocyte differentiation|activation of immune cell differentiation|up-regulation of leukocyte differentiation|upregulation of leukocyte differentiation|positive regulation of leucocyte differentiation|up regulation of immune cell differentiation|up regulation of leucocyte differentiation pr 2013-05-02T17:32:52Z biological_process owl:Class HP:0012328 biolink:NamedThing Cementoma An odontogenic tumor of the cementum of tooth. tmpxe7fu0cj_hp_relaxed.owl MSH:D002485|SNOMEDCT_US:37258009|UMLS:C0007659|SNOMEDCT_US:23255001 peter 2013-08-12T08:55:10Z human_phenotype owl:Class HP:0100612 biolink:NamedThing Odontogenic neoplasm Neoplasm involving odontogenic cells, an odontogenic tumor. tmpxe7fu0cj_hp_relaxed.owl Odontogenic tumor|Odontogenic tumour MSH:D009808|SNOMEDCT_US:127578009|SNOMEDCT_US:3833004|UMLS:C0028880|NCIT:C3286 Examples for odontogenic neoplasia are Adenomatoid odontogenic tumors, Ameloblastomas, Calcifying epithelial odontogenic tumors, Calcifying odontogenic cysts, Dentigerous cysts, Odontogenic keratocysts, Dontogenic myxomas, Odontomas. doelkens 2010-12-28T11:03:36Z owl:Class GO:0048546 biolink:NamedThing digestive tract morphogenesis The process in which the anatomical structures of the digestive tract are generated and organized. The digestive tract is the anatomical structure through which food passes and is processed. tmpxe7fu0cj_hp_relaxed.owl gut morphogenesis|alimentary canal morphogenesis|gastrointestinal tract morphogenesis|digestive tube morphogenesis|intestinal morphogenesis GO:0048547 biological_process owl:Class HP:0012428 biolink:NamedThing Prominent calcaneus Protruding heel bone, or calcaneus. tmpxe7fu0cj_hp_relaxed.owl Prominent heel bone UMLS:C4021088 peter 2013-11-12T11:04:49Z human_phenotype owl:Class HP:0008364 biolink:NamedThing Abnormality of the calcaneus An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel. tmpxe7fu0cj_hp_relaxed.owl Abnormal heel bone UMLS:C4024689 peter 2008-04-04T11:38:00Z human_phenotype owl:Class UBERON:0001820 biolink:NamedThing sweat gland Any of the coil glands of the skin that secrete sweat. tmpxe7fu0cj_hp_relaxed.owl sudoriferous gland|sudoriparous gland|glandula sudorifera OpenCyc:Mx4rvVjx15wpEbGdrcN5Y29ycA|FMA:59152|BTO:0001331|MA:0000150|VHOG:0001467|NCIT:C33712|MESH:D013545|CALOHA:TS-0993|EV:0100160|EMAPA:35844|UMLS:C0038989|GAID:943 http://upload.wikimedia.org/wikipedia/commons/6/6d/Skin.svg TODO - check if all sweat glands are epidermal - see EMAPA:29743 uberon owl:Class A gland that secretes sweat, found in the dermis or subcutaneous tissue, opening by a duct on the body surface. [TFD][VHOG] Sweat glands (also called sudoriferous glands) are unique to mammals.[well established][VHOG] In humans a system of apocrine - and merocrine sweat glands is the main method of cooling. Many other mammals rely on panting or other means as a primary source of cooling, but still use sweat glands to aid in body temperature regulation UBERON:0011096 biolink:NamedThing lacrimal nerve The lacrimal nerve is the smallest of the three branches of the ophthalmic division of the trigeminal nerve. tmpxe7fu0cj_hp_relaxed.owl nervus lacrimalis NCIT:C32908|FMA:52628 uberon owl:Class PATO:0001396 biolink:NamedThing cellular quality A monadic quality of continuant that exists at the cellular level of organisation. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0070044 biolink:NamedThing anatomical structure quality A quality of continuant that exist at the anatomical level of organisation and anything under it. This includes, but is not limited to, cells , tissues, and components. tmpxe7fu0cj_hp_relaxed.owl http://orcid.org/0000-0001-7258-9596 quality owl:Class UBERON:0004086 biolink:NamedThing brain ventricle One of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid. tmpxe7fu0cj_hp_relaxed.owl brain ventricles|cerebral ventricle|region of ventricular system of brain EFO:0001914|MA:0000818|OpenCyc:Mx4rvmTY65wpEbGdrcN5Y29ycA|HBA:9418|MESH:D002552|FMA:78447|BTO:0001442|BIRNLEX:1356|EMAPA:32674|NCIT:C12356|UMLS:C0007799 uberon owl:Class Organ cavity of the brain which consists of the lateral ventricles, the third and fourth ventricles and the cerebral aqueduct[BIRNLEX:1356]. FMA draws the distinction between e.g. 'fourth ventricle' and 'cavity of fourth ventricle'. The latter is a cavity, and part of the former, which is a region. The superclass of 'fourth ventricle' is_a 'region of ventricular system of the brain'. We place this class here, although it is not equivalent to ventricles, as it includes ventricle bodies. HP:0100082 biolink:NamedThing Irregular epiphyses of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the little toe bone|Irregular end part of the pinkie toe bone|Irregular end part of the pinky toe bone UMLS:C4022339 doelkens 2010-06-24T10:00:02Z human_phenotype owl:Class HP:0010167 biolink:NamedThing Irregular epiphyses of the toes tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the toe bones UMLS:C4023992 doelkens 2009-05-29T01:34:06Z human_phenotype owl:Class GO:0014741 biolink:NamedThing negative regulation of muscle hypertrophy Any process that stops, prevents, or reduces the frequency, rate, or extent of muscle hypertrophy. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0001938 biolink:NamedThing positive regulation of endothelial cell proliferation Any process that activates or increases the rate or extent of endothelial cell proliferation. tmpxe7fu0cj_hp_relaxed.owl activation of endothelial cell proliferation|up-regulation of endothelial cell proliferation|stimulation of endothelial cell proliferation|up regulation of endothelial cell proliferation|upregulation of endothelial cell proliferation biological_process owl:Class GO:0001936 biolink:NamedThing regulation of endothelial cell proliferation Any process that modulates the frequency, rate, or extent of endothelial cell proliferation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0001464 biolink:NamedThing Aplasia/Hypoplasia involving the shoulder musculature Absence or underdevelopment of the muscles of the shoulder. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped shoulder muscles|Absent/small shoulder muscles UMLS:C4025772 peter 2008-04-07T10:49:00Z human_phenotype owl:Class HP:0001467 biolink:NamedThing Aplasia/Hypoplasia involving the musculature of the upper limbs Absence or underdevelopment of the musculature of the upper limbs. tmpxe7fu0cj_hp_relaxed.owl Absent/small upper limb muscles|Absent/underdeveloped upper limb muscles UMLS:C4025770 peter 2008-04-07T10:51:00Z human_phenotype owl:Class HP:0030355 biolink:NamedThing Abnormal serum interferon-gamma level Abnormal levels of interferon gamma measured in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072899 owl:Class HP:0030354 biolink:NamedThing Abnormal serum interferon level Abnormal levels of interferon in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072898 owl:Class HP:0011077 biolink:NamedThing Abnormality of molar An abnormality of molar tooth. tmpxe7fu0cj_hp_relaxed.owl Abnormality of molar UMLS:C4023547 peter 2011-03-11T09:57:49Z owl:Class HP:0000164 biolink:NamedThing Abnormality of the dentition Any abnormality of the teeth. tmpxe7fu0cj_hp_relaxed.owl Tooth abnormalities|Dental abnormality|Dental problems|Dental problem|Abnormal teeth|Abnormality of the teeth|Abnormal dentition|Dental anomalies|Dental abnormalities SNOMEDCT_US:422775003|UMLS:C0262444|MSH:D014071|UMLS:C0040427 Any abnormality of the primary (deciduous) or permanent teeth. HP:0001567|HP:0006296|HP:0006348 owl:Class UBERON:0011642 biolink:NamedThing oral epithelium from ectoderm An epithelium that develops_from a ectoderm and is part of a oral epithelium. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004137 uberon owl:Class GO:0003104 biolink:NamedThing positive regulation of glomerular filtration tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0010071 biolink:NamedThing layer of tympanic membrane tmpxe7fu0cj_hp_relaxed.owl tympanic membrane layer FMA:56732 uberon owl:Class In mammals, this class groups together the two epithelial layers plus the intermediate fibrous layer CL:0000313 biolink:NamedThing serous secreting cell Columnar glandular cell with irregular nucleus, copious granular endoplasmic reticulum and supranuclear granules. Secretes a watery fluid containing proteins known as serous fluid. tmpxe7fu0cj_hp_relaxed.owl serous cell FMA:62511|BTO:0003687 cell owl:Class CL:0000159 biolink:NamedThing seromucus secreting cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class GO:2000381 biolink:NamedThing negative regulation of mesoderm development Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm development. tmpxe7fu0cj_hp_relaxed.owl vk 2011-02-15T03:10:02Z biological_process owl:Class GO:0044093 biolink:NamedThing positive regulation of molecular function Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. tmpxe7fu0cj_hp_relaxed.owl jl 2009-04-21T04:11:06Z biological_process owl:Class GO:0065009 biolink:NamedThing regulation of molecular function Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. tmpxe7fu0cj_hp_relaxed.owl regulation of a molecular function biological_process owl:Class HP:0004925 biolink:NamedThing Chronic lactic acidosis A chronic form of lactic acidemia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839437 HP:0004899 human_phenotype owl:Class HP:0012468 biolink:NamedThing Chronic acidosis Longstanding abnormal acid accumulation or depletion of base. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1735903 peter 2013-11-24T01:16:31Z human_phenotype owl:Class GO:0002678 biolink:NamedThing positive regulation of chronic inflammatory response Any process that activates or increases the frequency, rate, or extent of a chronic inflammatory response. tmpxe7fu0cj_hp_relaxed.owl stimulation of chronic inflammatory response|up-regulation of chronic inflammatory response|up regulation of chronic inflammatory response|upregulation of chronic inflammatory response|activation of chronic inflammatory response biological_process owl:Class CL:0002183 biolink:NamedThing stem cell of gastric gland A stomach epithelial cell that is olumnar in form with a few short apical microvilli; relatively undifferentiated mitotic cell from which other types of gland are derived; few in number, situated in the isthmus region of the gland and base of the gastric pit. tmpxe7fu0cj_hp_relaxed.owl FMA:62953 tmeehan 2010-08-25T03:57:08Z CL:1000400 cell owl:Class CL:0002180 biolink:NamedThing mucous cell of stomach A mucous cell in the epithelium of the stomach. tmpxe7fu0cj_hp_relaxed.owl FMA:63464 tmeehan 2010-08-25T03:38:51Z CL:1000404 cell owl:Class GO:0001558 biolink:NamedThing regulation of cell growth Any process that modulates the frequency, rate, extent or direction of cell growth. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010348 biolink:NamedThing Broad phalanges of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Broad bones of the 2nd toe UMLS:C4023889 doelkens 2009-07-16T11:45:34Z human_phenotype owl:Class HP:0006767 biolink:NamedThing Pituitary prolactin cell adenoma A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women. tmpxe7fu0cj_hp_relaxed.owl Prolactin-secreting pituitary adenoma|Pituitary prolactinoma MSH:D015175|UMLS:C0033375|SNOMEDCT_US:134209002|SNOMEDCT_US:34337008 human_phenotype owl:Class HP:0002893 biolink:NamedThing Pituitary adenoma A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). tmpxe7fu0cj_hp_relaxed.owl Pituitary gland adenoma|Noncancerous tumor in pituitary gland|Noncancerous tumour in pituitary gland SNOMEDCT_US:128664001|SNOMEDCT_US:254956000|ICD-O:M8272/0|NCIT:C2855|MSH:D010911|UMLS:C0032000 In most cases pituitary adenoma are histologically benign, slow-growing, small neoplasms confined to the sella turcica. Some pituitary adenomas are more aggressive, grow faster, invade surrounding tissues, and cause local symptoms such as visual disturbances, headache, and varying degrees of hypopituitarism. Pituitary adenoma can be described as microadenoma, macroadenoma, and giant tumors based on size. Microadenoma is a tumor less than 10 mm, while macroadenoma describes a tumor larger than 10mm. Giant pituitary tumors are bigger than 40 mm. owl:Class HP:0010236 biolink:NamedThing Small epiphyses of the phalanges of the hand Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of finger bones|Small epiphyses of the fingers UMLS:C4021305 doelkens 2009-07-06T03:31:52Z HP:0009367 human_phenotype owl:Class UBERON:0000642 biolink:NamedThing suspensory ligament of duodenum A thin muscle connecting the junction between the duodenum, jejunum, and duodenojejunal flexure to connective tissue surrounding the superior mesenteric artery and coeliac artery. tmpxe7fu0cj_hp_relaxed.owl ligament of Treitz|suspensory muscle of duodenum|muscle of Treitz|musculus suspensorius duodeni FMA:20509 http://upload.wikimedia.org/wikipedia/commons/e/ed/Gray1042.png uberon owl:Class UBERON:0008841 biolink:NamedThing suspensory ligament A ligament that supports a body part, especially an organ. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0070445 biolink:NamedThing regulation of oligodendrocyte progenitor proliferation Any process that modulates the frequency, rate or extent of oligodendrocyte progenitor proliferation. tmpxe7fu0cj_hp_relaxed.owl regulation of oligodendrocyte precursor proliferation biological_process owl:Class UBERON:0018254 biolink:NamedThing skeletal musculature tmpxe7fu0cj_hp_relaxed.owl MA:0000165|EHDAA2:0001842|EMAPA:35578 Added for consistency with MA EMAPA and EHDAA2. See https://github.com/obophenotype/mouse-anatomy-ontology/issues/104 uberon owl:Class UBERON:0003642 biolink:NamedThing pedal digit 3 phalanx A phalanx that is part of a foot digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pedal digit III phalanx|foot digit 3 long bone of digit|foot digit 3 phalanx|third toe phalanx|digit long bone of foot digit 3|phalanx of foot digit 3|hind limb digit 3 phalanx|foot digit 3 digit long bone|phalanx of third toe|long bone of digit of foot digit 3 EMAPA:19128|UMLS:C1708084|FMA:32900|NCIT:C52780|MA:0001383 uberon owl:Class HP:0001836 biolink:NamedThing Camptodactyly of toe Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. tmpxe7fu0cj_hp_relaxed.owl Camptodactyly of feet UMLS:C4021774 human_phenotype owl:Class GO:0061181 biolink:NamedThing regulation of chondrocyte development Any process that modulates the rate, frequency, or extent of the process whose specific outcome is the progression of a chondrocyte over time, from its commitment to its mature state. Chondrocyte development does not include the steps involved in committing a chondroblast to a chondrocyte fate. tmpxe7fu0cj_hp_relaxed.owl dph 2010-07-14T08:28:52Z biological_process owl:Class GO:2000834 biolink:NamedThing regulation of androgen secretion Any process that modulates the frequency, rate or extent of androgen secretion. tmpxe7fu0cj_hp_relaxed.owl bf 2011-07-26T08:39:45Z biological_process owl:Class CL:0001044 biolink:NamedThing effector CD4-positive, alpha-beta T cell A CD4-positive, alpha-beta T cell with the phenotype CCR7-negative, CD45RA-positive. tmpxe7fu0cj_hp_relaxed.owl effector CD4+ T cell|effector CD4-positive, alpha-beta T-lymphocyte|effector CD4-positive, alpha-beta T-cell|effector CD4-positive, alpha-beta T lymphocyte This cell type is compatible with the HIPC Lyoplate markers for 'effector CD4+ T cell'. The functional characteristics of this cell type currently undefined in CL, which affects its proper placement within the hierarchy. cell owl:Class CL:0000911 biolink:NamedThing effector T cell A differentiated T cell with ability to traffic to peripheral tissues and is capable of mounting a specific immune response. tmpxe7fu0cj_hp_relaxed.owl effector T lymphocyte|effector T-lymphocyte|effector T-cell cell owl:Class GO:0006413 biolink:NamedThing translational initiation The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. tmpxe7fu0cj_hp_relaxed.owl translation initiation|biopolymerisation|protein synthesis initiation|biopolymerization GO:0006440|GO:0006454 biological_process owl:Class GO:0072521 biolink:NamedThing purine-containing compound metabolic process The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. tmpxe7fu0cj_hp_relaxed.owl purine and derivative metabolic process|purine-containing compound metabolism mah 2011-01-04T03:03:59Z biological_process owl:Class GO:0009581 biolink:NamedThing detection of external stimulus The series of events in which an external stimulus is received by a cell and converted into a molecular signal. tmpxe7fu0cj_hp_relaxed.owl perception of external stimulus biological_process owl:Class HP:0011187 biolink:NamedThing Focal EEG discharges with propagation to ipsilateral hemisphere Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023487 hecht 2011-11-19T10:43:06Z human_phenotype owl:Class GO:0010675 biolink:NamedThing regulation of cellular carbohydrate metabolic process Any process that modulates the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0031534 biolink:NamedThing Passive dorsiflexion of the 5th finger more than 90 degrees An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 00:56:23+00:00 This feature is tested on the right and left side and if positive, each feature contributes one point to the Beighton score. peter owl:Class HP:0032523 biolink:NamedThing Tendon thickening An abnormal increase in the thickness (diameter) of a tendon. tmpxe7fu0cj_hp_relaxed.owl 2019-05-26 11:35:27+00:00 peter owl:Class HP:0100261 biolink:NamedThing Abnormal tendon morphology An abnormality of the structure or form of the tendons, also often called sinews. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the sinew|Abnormal shape of tendon UMLS:C4021026 A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fascia as they are all made of collagen except that ligaments join one bone to another bone, and fascia connect muscles to other muscles. Tendons and muscles work together and can only exert a pulling force. doelkens 2010-07-20T01:20:19Z owl:Class HP:0009991 biolink:NamedThing Complete duplication of the distal phalanx of the 5th finger Complete duplication of the distal phalanx of little finger. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the outermost little finger bone|Complete duplication of the outermost pinkie finger bone|Complete duplication of the outermost pinky finger bone UMLS:C4024126 doelkens 2009-05-26T02:24:33Z human_phenotype owl:Class HP:0009986 biolink:NamedThing Complete duplication of the phalanges of the 5th finger A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the little finger bone|Complete duplication of the pinky finger bone|Complete duplication of the pinkie finger bone UMLS:C4024128 doelkens 2009-05-26T02:24:20Z human_phenotype owl:Class GO:0051983 biolink:NamedThing regulation of chromosome segregation Any process that modulates the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0002664 biolink:NamedThing Neoplasm An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). tmpxe7fu0cj_hp_relaxed.owl Oncological abnormality|Tumor|Abnormal tissue mass|Tumour|Neoplasia|Oncology|Cancer MSH:D009369|SNOMEDCT_US:108369006|UMLS:C0006826|NCIT:C3262|UMLS:C0027651|SNOMEDCT_US:363346000 The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer. HP:0003008|HP:0006741 human_phenotype owl:Class HP:0033496 biolink:NamedThing Perihilar segmental glomerulosclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. tmpxe7fu0cj_hp_relaxed.owl Segmental glomerulosclerosis, perihilar pattern 2021-01-10 13:24:42+00:00 peter owl:Class HP:0033495 biolink:NamedThing Segmental glomerulosclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 13:21:47+00:00 Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). peter owl:Class HP:3000077 biolink:NamedThing Abnormal mandible condylar process morphology An abnormality of a mandible condylar process. tmpxe7fu0cj_hp_relaxed.owl Abnormality of mandible condylar process UMLS:C4073284 vasilevs 2015-08-07T03:39:19Z human_phenotype owl:Class HP:0032587 biolink:NamedThing Renal interstitial calcium oxalate The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0041167 biolink:NamedThing Fractured cervical vertebra A partial or complete breakage of the cervical vertebra. tmpxe7fu0cj_hp_relaxed.owl bone cervical vertebra owl:Class HP:0046508 biolink:NamedThing Abnormal cervical spine morphology Any morphological abnormality of the cervical vertebral column. tmpxe7fu0cj_hp_relaxed.owl SNOMED_CT:298391004 owl:Class UBERON:0036074 biolink:NamedThing vein of vestibular aqueduct A vein that leaves the vestibule through an individual bone canal running parallel to the vestibular aqueduct up to the dura of the posterior side of the petrosa in the area of the endolymphatic sac. It then opens in the inferior petrosal sinus or the jugular bulb. The vein receives other branches from the bone, dura and sac. tmpxe7fu0cj_hp_relaxed.owl vena aqueductus vestibuli|vestibular aqueduct vein FMA:52367 uberon owl:Class HP:0100230 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the innermost bone of the pinkie toe|Increased bone density of end part of the innermost bone of the little toe|Increased bone density of end part of the innermost bone of the pinky toe UMLS:C4022191 doelkens 2010-06-24T05:04:53Z human_phenotype owl:Class GO:0072360 biolink:NamedThing vascular cord development The progression of the vascular cord over time from its initial formation until its mature state. The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis. tmpxe7fu0cj_hp_relaxed.owl mah 2010-11-16T11:46:55Z biological_process owl:Class HP:0100258 biolink:NamedThing Preaxial polydactyly A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. tmpxe7fu0cj_hp_relaxed.owl Polydactyly, preaxial UMLS:C0345354|SNOMEDCT_US:205135003 doelkens 2010-07-20T11:00:32Z human_phenotype owl:Class UBERON:0001105 biolink:NamedThing clavicle bone A paired dermal or endochondral bone that is part of the pectoral girdle. The clavicle may be in contact with the interclavicle or coracoid and forms an attachment site for pectoral musculature. [PHENOSCAPE:ad]. tmpxe7fu0cj_hp_relaxed.owl clavicle|collarbone|collar bone|clavicula VHOG:0000849|EMAPA:18721|MA:0001329|OpenCyc:Mx4rvVjijZwpEbGdrcN5Y29ycA|UMLS:C0008913|AAO:0000761|GAID:182|galen:Clavicle|MESH:D002968|NCIT:C12695|VSAO:0005031|MFMO:0000047|FMA:13321 Pectoral:girdles-en.svg uberon owl:Class Slender, paired bones of intramembranous origin that invest the anterior margins of the procoracoids.[AAO] relationship loss: part_of zonal element (AAO:0000936)[AAO] In early tetrapods, the connecting skull bone, the posttemporal, and adjoining shoulder bones, supracleithrum and postcleithrum (=anocleithrum), are absent, leaving a dermal shoulder girdle composed of the remaining ventral elements: the paired cleithrum and clavicle, and an unpaired midventral interclavicle that joins both halves of the girdle across the midline. (...) Several dermal elements of the shoulder persist in early synapsids. The clavicle and interclavicle are present in therapsids and monotremes, but in marsupials and placentals, the interclavicle is absent, the clavicle often is reduced in size, and the scapula becomes the predominant shoulder element.[well established][VHOG] clavicular The clavicle first appears as part of the skeleton in primitive bony fish, where it is associated with the pectoral fin; they also have a bone called the cleithrum. In such fish, the paired clavicles run behind and below the gills on each side, and are joined by a solid symphysis on the fish's underside. They are, however, absent in cartilagenous fish and in the vast majority of living bony fish, including all of the teleosts[ISBN 0-03-910284-X]. In most birds and mammals the clavicles are the only dermal elements in the trunk, and is the only membrane bone associated with the pectoral girdle in these taxa. However, there can be secondary cartilage, or subsequent endochondral ossification, or fusion with endochondral elements. In rodents, the lateral ends of the clavicle are endochondral but the main portion is dermal. FMA and MA differ in whether they consider this part of the shoulder CHEBI:33792 biolink:NamedThing canonical ribonucleoside residue tmpxe7fu0cj_hp_relaxed.owl common ribonucleoside residues|N|Nuc|standard ribonucleoside residues|common ribonucleoside residue|canonical ribonucleoside residues chebi_ontology owl:Class CHEBI:33791 biolink:NamedThing canonical nucleoside residue tmpxe7fu0cj_hp_relaxed.owl standard nucleoside residues|nucleoside residue|common nucleoside residues|canonical nucleoside residues chebi_ontology owl:Class GO:1903942 biolink:NamedThing positive regulation of respiratory gaseous exchange Any process that activates or increases the frequency, rate or extent of respiratory gaseous exchange. tmpxe7fu0cj_hp_relaxed.owl upregulation of respiratory gaseous exchange|up-regulation of respiratory gaseous exchange|activation of respiratory gaseous exchange|up regulation of respiratory gaseous exchange sl 2015-02-17T20:26:35Z biological_process owl:Class HP:0001285 biolink:NamedThing Spastic tetraparesis Spastic weakness affecting all four limbs. tmpxe7fu0cj_hp_relaxed.owl Spastic quadriparesis SNOMEDCT_US:298282001|UMLS:C0575059 HP:0002393 owl:Class HP:0009148 biolink:NamedThing Small epiphysis of the distal phalanx of the 5th finger Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of the outermost bone of little finger|Small end part of the outermost bone of pinky finger|Small end part of the outermost bone of pinkie finger UMLS:C4024571 peter 2008-12-22T01:40:08Z human_phenotype owl:Class HP:0010254 biolink:NamedThing Small epiphyses of the distal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Small end part of the outermost hand bones UMLS:C4023946 doelkens 2009-07-06T04:23:06Z human_phenotype owl:Class HP:0009324 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 3rd finger Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the middle bone of the middle finger UMLS:C4024441 doelkens 2009-01-12T11:15:44Z human_phenotype owl:Class HP:0009334 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl Abnormality of the middle part of the middle bone of the middle finger UMLS:C4024433 doelkens 2009-01-12T11:16:44Z human_phenotype owl:Class CL:1000500 biolink:NamedThing kidney interstitial cell tmpxe7fu0cj_hp_relaxed.owl KUPO:0001013 cell owl:Class CL:1000497 biolink:NamedThing kidney cell tmpxe7fu0cj_hp_relaxed.owl KUPO:0001010 cell owl:Class HP:0011151 biolink:NamedThing Atypical absence status epilepticus Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. tmpxe7fu0cj_hp_relaxed.owl Obtundation status UMLS:C4023511 In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. This form of seizure may be observed in Lennox-Gastaut syndrome. peter 2011-10-18T02:09:55Z owl:Class HP:0031475 biolink:NamedThing Status epilepticus without prominent motor symptoms There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma. tmpxe7fu0cj_hp_relaxed.owl Nonconvulsive status epilepticus 2017-09-17 16:57:40+00:00 peter owl:Class CL:1000409 biolink:NamedThing myocyte of sinoatrial node A muscle cell that is part of the sinoatrial node. tmpxe7fu0cj_hp_relaxed.owl sinoatrial node myocyte|sinuatrial node myocyte|myocyte of sinoatrial node|SA node cardiac muscle cell|sinoatrial node cell|SA nodal myocyte FMA:67102 cell owl:Class CL:0002072 biolink:NamedThing nodal myocyte A specialized cardiac myocyte in the sinoatrial and atrioventricular nodes. The cell is slender and fusiform confined to the nodal center, circumferentially arranged around the nodal artery. tmpxe7fu0cj_hp_relaxed.owl P cell|myocytus nodalis|pacemaker cell|cardiac pacemaker cell BTO:0004190|FMA:67101 tmeehan 2010-06-29T11:41:37Z cell owl:Class GO:0070727 biolink:NamedThing cellular macromolecule localization Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpxe7fu0cj_hp_relaxed.owl cellular macromolecule localisation mah 2009-06-16T04:08:29Z biological_process owl:Class GO:0061041 biolink:NamedThing regulation of wound healing Any process that modulates the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. tmpxe7fu0cj_hp_relaxed.owl dph 2010-02-25T10:14:37Z biological_process owl:Class UBERON:0001812 biolink:NamedThing palpebral conjunctiva A thin transparent mucous membrane that covers the posterior surface of the eyelids and is continuous with the bulbar conjunctiva at the conjunctival fornicies. tmpxe7fu0cj_hp_relaxed.owl conjunctival layer of eyelids|eyelid conjunctiva|tunica conjunctiva palpebrum|tarsal conjunctiva FMA:59025|NCIT:C12901|MA:0001265|UMLS:C0229274 lines the eyeballs uberon owl:Class UBERON:0010305 biolink:NamedThing subdivision of conjunctiva One of the three major regions of the conjunctiva. tmpxe7fu0cj_hp_relaxed.owl conjunctiva region|region of conjunctiva FMA:59023 uberon owl:Class HP:0002423 biolink:NamedThing Long-tract signs tmpxe7fu0cj_hp_relaxed.owl Long tract signs UMLS:C1865903 Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions. human_phenotype owl:Class HP:0006799 biolink:NamedThing Basal ganglia cysts tmpxe7fu0cj_hp_relaxed.owl Cystic lesions in the basal ganglia UMLS:C1837251 HP:0007244 human_phenotype owl:Class UBERON:0011566 biolink:NamedThing lumen of esophagus An anatomical cavity that is part of a esophagus. tmpxe7fu0cj_hp_relaxed.owl eosophageal lumen|esophagus lumen|esophageal lumen|eosophagus lumen|esophageal cavity|eosophageal cavity|cavity of esophagus|cavity of eosophagus EMAPA:18380|FMA:9398|SCTID:322648002 uberon owl:Class UBERON:0003123 biolink:NamedThing pharyngeal arch artery 6 The vessels formed within the sixth pair of branchial arches in embryogenesis. tmpxe7fu0cj_hp_relaxed.owl sixth branchial arch artery|6th branchial arch artery|pulmonary arch|aortic arch 6|6th pharyngeal arch artery|6th arch artery|sixth aortic arch|AA6|6th aortic arch artery EMAPA:17005|XAO:0000353|EHDAA2:0000102|SCTID:308779008|AAO:0010422|Wikipedia:Aortic_arches#Arch_6|TAO:0005016|VHOG:0000144|ZFA:0005016 UBERON:0004351 uberon owl:Class The sixth in a series paired arterial connections between the dorsal and ventral aortae. Aortic arch 6 artery is paired and has a common trunk with aortic arch 5 from the ventral aorta, and drains via a separate branch of the lateral dorsal aorta. It forms part of the pulmonary arteries, and in the later embryo, the ductus arteriosis. Aortic arches 5 and 6 together supply the trunk and tail with oxygenated blood.[AAO]|The fifth and sixth arches, which come on-line at approximately 2.5 dpf, have a common trunk from the ventral aorta and drain to the midline dorsal aorta via an independent route. The fifth and sixth aortic arches supply the trunk and tail with oxigenated blood. Isogai et al. 2001.[TAO]|The sixth right arch disappears; the sixth left arch gives off the pulmonary arteries and forms the ductus arteriosus; this duct remains pervious during the whole of fetal life, but then closes within the first few days after birth due to increased O2 concentration. Oxygen concentration causes the production of bradykinin which causes the ductus to constrict occluding all flow. Within 1-3 months, the ductus is obliterated and becomes the ligamentum arteriosus. His showed that in the early embryo the right and left arches each gives a branch to the lungs, but that later both pulmonary arteries take origin from the left arch[WP][Wikipedia:Aortic_arches#Arch_6]. the distal left sixth arch becomes the ductus arteriosus, the proximal sixth arches bilaterally contribute to the proximal branch pulmonary arteries UBERON:0004363 biolink:NamedThing pharyngeal arch artery One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]. tmpxe7fu0cj_hp_relaxed.owl pharyngeal arch artery|PAA|a. arcuum pharyngeorum|aortic arch artery|branchial aortic arches|pharyngeal arch arteries|embryonic aortic arch artery|aortic arch|aortic arches|arteriae arcuum pharyngeorum|branchial arch artery EHDAA2:0000186|ZFA:0005004|AAO:0010414|TAO:0005004|XAO:0000341|EMAPA:16684|EHDAA:398|VHOG:0000122|EHDAA:7327|NCIT:C32123|UMLS:C0003489|Wikipedia:Aortic_arches|EFO:0003695 Do not confuse with arch of aorta. http://upload.wikimedia.org/wikipedia/commons/8/84/Gray473.png add specific artery derivatives UBERON:0004342 uberon owl:Class Paired vessels arching from the ventral to the dorsal aorta through the pharyngeal arches. [TFD][VHOG] When vertebrates first appeared, they must have possessed a ventral and dorsal aorta with aortic arches between them.[well established][VHOG] Number varies - Lampreys have 8, hagfishes 15; only up to 6 appear in embryonic development in most gnathostome fishes and all tetrapods The third, fourth, and sixth arches, along with the seventh intersegmental arteries and the left dorsal aorta, are the primary contributors to the normal aortic arch and its major thoracic branches PATO:0050000 biolink:NamedThing rate of occurence The number of repeated events per unit time, occurring in a repeating series. (e.g. the number of heart beats occurring over 1 minute) tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0006407 biolink:NamedThing Irregular distal femoral epiphysis Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular. tmpxe7fu0cj_hp_relaxed.owl Irregular outermost thighbone end part UMLS:C4025050 human_phenotype owl:Class UBERON:0000305 biolink:NamedThing amnion The thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected. tmpxe7fu0cj_hp_relaxed.owl amnios NCIT:C12365|EV:0100122|FMA:80223|MESH:A16.254.403.277|EMAPA:16109|VHOG:0000721|UMLS:C0002630|CALOHA:TS-0033|GAID:1298|EHDAA:136|EHDAA2:0000116|BTO:0000065 http://upload.wikimedia.org/wikipedia/commons/e/e7/Gray14.png uberon owl:Class A thin but tough extraembryonic membrane of reptiles, birds and mammals that lines the chorion and contains the fEtus and the amniotic fluid around it. [Biology_Online][VHOG] Structures homologous to the four extraembryonic membranes of reptiles and birds appear in mammals: amnion, chorion, yolk sac, and allantois.[well established][VHOG] amniotic UBERON:0004528 biolink:NamedThing alveolar ridge of mandible The thickened ridge of bone that contains the tooth sockets on the mandible. tmpxe7fu0cj_hp_relaxed.owl upper alveolar ridge|alveolar process of mandible|pars alveolaris (mandibula)|pars alveolaris mandibulae|anterior alveolar ridge|alveolar arch of mandible|alveolar margin of mandible|alveolar part of mandible FMA:52832 http://upload.wikimedia.org/wikipedia/commons/9/9f/Mandibule.jpg uberon owl:Class UBERON:0004103 biolink:NamedThing alveolar ridge One of the two jaw ridges either on the roof of the mouth between the upper teeth and the hard palate or on the bottom of the mouth behind the lower teeth[WP]. The alveolar ridges contain the sockets (alveoli) of the teeth[HP]. tmpxe7fu0cj_hp_relaxed.owl alveolar bone|margo alveolaris|alveolar body|alveolar margin|alveolar process GAID:215|BTO:0001383|FMA:313923|UMLS:C0447411|MA:0003119|EMAPA:35118|NCIT:C89749|MESH:D000539 uberon owl:Class in BTO, this is part of an embryo UBERON:0011918 biolink:NamedThing line of Schwalbe The thickened peripheral margin of the vitreous membrane of the cornea. tmpxe7fu0cj_hp_relaxed.owl Schwalbe's line|Schwalbe's ring|Schwalbe line FMA:58422|EMAPA:37895 uberon owl:Class A line in FMA, a structure in MP GO:2000497 biolink:NamedThing positive regulation of cell proliferation involved in compound eye morphogenesis Any process that activates or increases the frequency, rate or extent of cell proliferation involved in compound eye morphogenesis. tmpxe7fu0cj_hp_relaxed.owl bf 2011-03-18T02:19:54Z biological_process owl:Class UBERON:0035106 biolink:NamedThing raphe of perineum The perineal raphe extends from the anus, through the mid-line of the scrotum (scrotal raphe) and upwards through the posterior mid-line aspect of the penis (penile raphe). tmpxe7fu0cj_hp_relaxed.owl perineal raphe|raphe perinealis|raphe perinei FMA:20244 uberon owl:Class It is the result of a fetal developmental phenomenon whereby the scrotum (the developmental equivalent of the labia in females) and penis close toward the midline and fuse. The resulting ridge of tissue is evident as the perineal raphe HP:0012094 biolink:NamedThing Abnormal pancreas size A deviation from the normal size of the pancreas. tmpxe7fu0cj_hp_relaxed.owl Abnormal pancreas size UMLS:C4023046 peter 2012-08-20T09:19:08Z human_phenotype owl:Class GO:0035265 biolink:NamedThing organ growth The increase in size or mass of an organ. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that function together as to perform a specific function. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0048589 biolink:NamedThing developmental growth The increase in size or mass of an entire organism, a part of an organism or a cell, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0071745 biolink:NamedThing IgA immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgA isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and sometimes complexed with J chain or J chain and secretory component. An IgA immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpxe7fu0cj_hp_relaxed.owl IgA1 antibody|IgA2 antibody Note that an IgA immunoglobulin complex has the function of antigen binding if a suitable antigen is available. mah 2010-03-24T01:44:53Z cellular_component owl:Class GO:0019814 biolink:NamedThing immunoglobulin complex A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpxe7fu0cj_hp_relaxed.owl antibody Note that an immunoglobulin complex has the function of antigen binding if a suitable antigen is available. cellular_component owl:Class CHEBI:50114 biolink:NamedThing estrogen A hormone that stimulates or controls the development and maintenance of female sex characteristics in mammals by binding to oestrogen receptors. The oestrogens are named for their importance in the oestrous cycle. The oestrogens that occur naturally in the body, notably estrone, estradiol, estriol, and estetrol are steroids. Other compounds with oestrogenic activity are produced by plants (phytoestrogens) and fungi (mycoestrogens); synthetic compounds with oestrogenic activity are known as xenoestrogens. tmpxe7fu0cj_hp_relaxed.owl oestrogen|oestrogenes|oestrogene|oestrogens|estrogenes Hormon|estrogens|estrogene|estrogenes|estrogenos|Estrogene|Oestrogene|estrogeno|Oestrogen Wikipedia:Estrogen chebi_ontology owl:Class CHEBI:50112 biolink:NamedThing sex hormone Any hormone that is responsible for controlling sexual characteristics and reproductive function. tmpxe7fu0cj_hp_relaxed.owl Geschlechtshormon|Geschlechtshormone|hormone sexuelle|hormones sexuelles|Sexualhormone|sex hormones|Sexualhormon chebi_ontology owl:Class HP:0005343 biolink:NamedThing Hypoplasia of the bladder Underdevelopment of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped bladder|Hypoplastic bladder UMLS:C1855335 HP:0005342 human_phenotype owl:Class HP:0010476 biolink:NamedThing Aplasia/Hypoplasia of the bladder Absence or underdevelopment of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl Absent/small bladder|Absent/underdeveloped bladder UMLS:C4023813 peter 2009-09-15T10:09:48Z human_phenotype owl:Class UBERON:0001752 biolink:NamedThing enamel A dentine-like hypermineralized substance that covers the tooth tip. Enamel's primary mineral is hydroxylapatite, which is a crystalline calcium phosphate. Unlike dentin and bone, enamel does not contain collagen. Instead, it has two unique classes of proteins called amelogenins and enamelins[WP]. tmpxe7fu0cj_hp_relaxed.owl tooth enamel|enameloid|enamel tissue|enamel of tooth NCIT:C32505|XAO:0004198|VSAO:0000065|EMAPA:35303|MESH:A14.254.900.255|CALOHA:TS-1057|FMA:55629|BTO:0001844|UMLS:C0011350|MA:0002543 http://upload.wikimedia.org/wikipedia/commons/6/66/Enamelorgan11-17-05.jpg current classification under substance of tooth may be turned into taxon GCI (e.g. sharks have enamel in dermal denticles) uberon owl:Class Skeletal tissue that consists of an avascular, noncollagenous, hypermineralized matrix that is deposited by ameloblasts that are excluded from the matrix. Enamel develops from organic pre-enamel tissue that is replaced by a largely inorganic matrix.[VSAO] part_of tooth enamel organ in MA UBERON:4000013 biolink:NamedThing mineralized skeletal tissue Skeletal tissue that is mineralized. tmpxe7fu0cj_hp_relaxed.owl mineralized tissue VSAO:0000013|XAO:0004039 uberon owl:Class UBERON:0006238 biolink:NamedThing future brain The embryonic precursor of the brain. tmpxe7fu0cj_hp_relaxed.owl encephalon|brain rudiment|presumptive brain|embryonic brain EFO:0003431|BAMS:Enc|RETIRED_EHDAA2:0000591|BTO:0004726|EHDAA:300|TAO:0000146|EMAPA:16089|EHDAA:830|FMA:312967|ZFA:0000146 uberon owl:Class The embryonic precursor of the brain and the set of mature brain structures that derive from it (CUMBO) UBERON:0001497 biolink:NamedThing muscle of pelvic girdle Any muscle organ that is part of a pelvic girdle [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscle organ of pelvic girdle bone|pelvic girdle muscle|muscle organ of pelvic girdle|muscle organ of girdle-pelvic|pelvic girdle skeletal muscle|pelvic girdle muscle organ|girdle-pelvic muscle organ EMAPA:18185|FMA:37367|EMAPA:18184|EHDAA:8326|MA:0000537|RETIRED_EHDAA2:0001430 UBERON:0003271 uberon owl:Class Note that in MA, this is a subclass of pelvis muscle; in FMA this is a hindlimb muscle, but recall in FMA hindlimb includes the girdle. HP:0006548 biolink:NamedThing Pulmonary arteriovenous malformation Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins. tmpxe7fu0cj_hp_relaxed.owl Pulmonary AV malformation UMLS:C1857690|Fyler:2210 HP:0006537|HP:0002114 owl:Class HP:0004930 biolink:NamedThing Abnormality of the pulmonary vasculature tmpxe7fu0cj_hp_relaxed.owl Abnormality of the lung blood vessels UMLS:C4025271 peter 2008-03-26T04:07:00Z owl:Class UBERON:1000006 biolink:NamedThing collection of hair on forehead A collection of hairs that grows on the forehead. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0010164 biolink:NamedThing collection of hairs An anatomical cluster that composed_primarily_of a strand of hair. tmpxe7fu0cj_hp_relaxed.owl hairs|set of hairs|pili|hairs set FMA:70752 uberon owl:Class HP:0010080 biolink:NamedThing Osteolytic defects of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024065 doelkens 2009-05-29T12:16:28Z human_phenotype owl:Class HP:0010053 biolink:NamedThing Abnormality of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Abnormality of the outermost bone of the big toe UMLS:C4024083 doelkens 2009-05-29T11:49:11Z owl:Class HP:0100457 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022070 human_phenotype owl:Class HP:0010387 biolink:NamedThing Osteolytic defects of the phalanges of the 5th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023865 doelkens 2009-07-16T11:52:18Z human_phenotype owl:Class HP:0006958 biolink:NamedThing Abnormal auditory evoked potentials An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex. tmpxe7fu0cj_hp_relaxed.owl Abnormal brainstem auditory-evoked potentials SNOMEDCT_US:102971006|UMLS:C0522216 Auditory brainstem response audiometry typically uses a click stimulus that generates a response from the basilar region of the cochlea. HP:0004462|HP:0003151|HP:0006923 human_phenotype owl:Class HP:0030177 biolink:NamedThing Abnormality of peripheral nervous system electrophysiology An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles. tmpxe7fu0cj_hp_relaxed.owl Abnormal nerve conduction study UMLS:C0853150 owl:Class HP:0008606 biolink:NamedThing Supraauricular pit Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit. tmpxe7fu0cj_hp_relaxed.owl Pit above the ear|Supraauricular sinus|Supraauricular fistula|Supraauricular sinuses UMLS:C1862059 human_phenotype owl:Class HP:0011531 biolink:NamedThing Vitritis Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity. tmpxe7fu0cj_hp_relaxed.owl Vitreitis|Hyalitis UMLS:C0235812|SNOMEDCT_US:95802009 peter 2012-04-07T08:21:01Z human_phenotype owl:Class UBERON:0015418 biolink:NamedThing urethra mesenchymal layer A mesenchyme that is part of a urethra. tmpxe7fu0cj_hp_relaxed.owl MA:0002648|EMAPA:37786 uberon owl:Class UBERON:0001792 biolink:NamedThing ganglionic layer of retina Cytoarchitectural layer of retina that contains somata of retinal ganglion cells, bounded by the stratum opticum and the inner plexiform layer. tmpxe7fu0cj_hp_relaxed.owl retinal ganglion layer|retina ganglion layer|retinal ganglion cell layer|ganglionic cell layer of retina|stratum ganglionicum retinae|stratum ganglionicum (retina)|RGC layer|retina ganglion cell layer|GCL layer|ganglion cell layer|retina, ganglion cell layer NLXANAT:1005030|FMA:58687|NLX:36500|VHOG:0001166|NCIT:C32652|EMAPA:35739|MA:0001310|CALOHA:TS-0867|BAMS:Rgcl|ZFA:0000024|BTO:0003398|TAO:0000024|XAO:0003223 http://upload.wikimedia.org/wikipedia/commons/5/55/Gray881.png uberon owl:Class a layer of the retina that consists of retinal ganglion cells[WP]. innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain[Wikipedia:Ganglion_cell_layer]. (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The outer layer of the optic cup becomes the pigment layer of the retina, whereas the inner layer differentiates into the photoreceptive cells and neuronal layers of the retina.[well established][VHOG] NIFSTD class appears to be retired in nlx[http://neurolex.org/wiki/Nlx_anat_1005030] UBERON:0001781 biolink:NamedThing layer of retina Any of the layers that make up the retina[MP]. tmpxe7fu0cj_hp_relaxed.owl retinal neuronal layer|retinal layer|retina neuronal layer|retina layer FMA:58617|XAO:0000266|MA:0001319|UMLS:C0459649|AAO:0010353|EMAPA:35742|SCTID:280657006|NCIT:C49328 uberon owl:Class MA does not treat internal/external limiting memranes as layers - these are classified as laminae. Here we follow other ontologies in grouping with other layers. MA also treats retinal pigment epithelium and neural retina epithelium as distinct from the layers. We follow ontologies such as FMA and ZFA in first dividing into pigmented and neural layers - these are also classified as layers, giving us over the usual 10 layers UBERON:0004695 biolink:NamedThing arterial system smooth muscle A portion of smooth muscle tissue that is part of an arterial system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:36503|MA:0000704 uberon owl:Class UBERON:0012651 biolink:NamedThing mucosa of gastroduodenal junction A mucosa that is part of a gastroduodenal junction. tmpxe7fu0cj_hp_relaxed.owl gastroduodenal mucosa BTO:0005415 uberon owl:Class HP:0011770 biolink:NamedThing Tertiary hyperparathyroidism A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0271858|SNOMEDCT_US:78200003 peter 2012-04-22T04:38:20Z human_phenotype owl:Class HP:0500240 biolink:NamedThing Abnormal CSF carnosine concentration Any deviation from the normal concentration of carnosine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal carnosine levels in cerebrospinal fluid 2019-02-26 15:25:43+00:00 owl:Class HP:0500184 biolink:NamedThing Abnormal CSF amino acid concentration Any deviation from the normal concentration of amino acids in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal cerebrospinal fluid amino acid level|Abnormal CSF amino acid level|Abnormal amino acid levels in cerebrospinal fluid 2019-02-25 15:20:22+00:00 HP:0032364 owl:Class UBERON:0011024 biolink:NamedThing extrinsic extensor muscle of manus The extrinsic extensor muscles of the hand are located in the back of the forearm and have long tendons connecting them to bones in the hand, where they exert their action. tmpxe7fu0cj_hp_relaxed.owl extrinsic extensor muscle of hand uberon owl:Class UBERON:0000311 biolink:NamedThing extensor muscle A skeletal muscle whose contraction extends or stretches a body part. tmpxe7fu0cj_hp_relaxed.owl extensor FMA:75000|BTO:0000151 Any of the muscles that increase the angle between segments of a limb, E.g. straightening the elbow or knee or bending the wrist or spine backward. The movement is usually directed backward, with the notable exception of the knee joint. In humans, certain muscles of the hand and foot are named for this function. In the hand these include the extensor carpi radialis brevis, extensor carpi radialis longus, and extensor carpi ulnaris, which run from the humerus along the back of the forearm to the metacarpal bones at the back of the hand. [http://www.britannica.com/EBchecked/topic/198909/extensor-muscle] uberon owl:Class CHEBI:17151 biolink:NamedThing xylitol A pentitol (five-carbon sugar alcohol) having meso-configuration, being derived from xylose by reduction of the carbonyl group. tmpxe7fu0cj_hp_relaxed.owl Xylit|(2R,3r,4S)-pentane-1,2,3,4,5-pentol|L-xylitol|Xylitol|D-XYLITOL|meso-xylitol|xylitol|xylite|(2R,3R,4S)-Pentane-1,2,3,4,5-pentaol 0 C5H12O5 InChI=1S/C5H12O5/c6-1-3(8)5(10)4(9)2-7/h3-10H,1-2H2/t3-,4+,5+ HEBKCHPVOIAQTA-SCDXWVJYSA-N 152.14580 152.06847 OC[C@H](O)[C@@H](O)[C@H](O)CO PMID:18316079|PMID:23247825|Wikipedia:Xylitol|DrugBank:DB01904|PMID:17979222|PMID:23615861|Drug_Central:4604|PMID:15377394|Beilstein:1720523|PMID:17216458|PMID:22791282|PMID:25108762|PMID:23957303|Reaxys:1720523|PMID:23287496|PMID:20030329|PMID:12061879|PMID:16901854|PDBeChem:XYL|Gmelin:82893|KEGG:C00379|CAS:87-99-0|PMID:23589387|PMID:22735334|HMDB:HMDB0002917|PMID:23916161|PMID:17216457|MetaCyc:XYLITOL|PMID:24643482|PMID:11163479|PMID:23796483|PMID:23338824|KEGG:D00061|PMID:23597921|PMID:16708791|PMID:24012734|PMID:17336832|PMID:11154411 CHEBI:253147|CHEBI:46522|CHEBI:10078|CHEBI:15328|CHEBI:60939|CHEBI:27339 chebi_ontology owl:Class CHEBI:25899 biolink:NamedThing pentitol An alditol obtained by reduction of any pentose. tmpxe7fu0cj_hp_relaxed.owl pentitol|pentitols chebi_ontology owl:Class CL:0001067 biolink:NamedThing group 1 innate lymphoid cell An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines. tmpxe7fu0cj_hp_relaxed.owl 2017-01-30 20:42:44+00:00 cell owl:Class CL:0001065 biolink:NamedThing innate lymphoid cell A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses. tmpxe7fu0cj_hp_relaxed.owl 2017-01-30 20:20:48+00:00 cell owl:Class GO:0042670 biolink:NamedThing retinal cone cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a retinal cone cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0031339 biolink:NamedThing negative regulation of vesicle fusion Any process that stops, prevents, or reduces the frequency, rate or extent of vesicle fusion. tmpxe7fu0cj_hp_relaxed.owl inhibition of vesicle fusion|down-regulation of vesicle fusion|down regulation of vesicle fusion|downregulation of vesicle fusion biological_process owl:Class GO:0031338 biolink:NamedThing regulation of vesicle fusion Any process that modulates the frequency, rate or extent of vesicle fusion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:2000402 biolink:NamedThing negative regulation of lymphocyte migration Any process that stops, prevents or reduces the frequency, rate or extent of lymphocyte migration. tmpxe7fu0cj_hp_relaxed.owl mah 2011-02-23T10:45:47Z biological_process owl:Class HP:0030494 biolink:NamedThing Macular microaneurysm/hemorrhage Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072982 owl:Class HP:0030495 biolink:NamedThing Abnormality morphology of the macular vasculature Any structural anomaly of the blood vessels of the macula. tmpxe7fu0cj_hp_relaxed.owl Abnormality of macular vasculature UMLS:C4072983 owl:Class HP:0004429 biolink:NamedThing Recurrent viral infections Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1837066 peter 2008-03-18T09:45:00Z HP:0005364 human_phenotype owl:Class UBERON:0002119 biolink:NamedThing left ovary An ovary that is part of a left side of organism [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl MA:0001704|UMLS:C0227874|EMAPA:37366|NCIT:C32969|SCTID:280124008|FMA:7214 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern In some elasmobranchs, the left ovary does not mature, with only the right ovary fully developing. In the primitive jawless fish, and some teleosts, there is only one ovary, formed by the fusion of the paired organs in the embryo HP:0034108 biolink:NamedThing Anti-Y-box protein-1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1. tmpxe7fu0cj_hp_relaxed.owl Anti-YB 1 antibody positivity 2021-12-19 15:10:34+00:00 peter owl:Class PR:P13595 biolink:NamedThing neural cell adhesion molecule 1 (mouse) A neural cell adhesion molecule 1 that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl NCAM-1 (mouse)|CD56 (mouse)|Ncam1|Ncam|N-CAM-1 (mouse)|mNCAM1 UniProtKB:P13595 Category=organism-gene. protein owl:Class PR:000001024 biolink:NamedThing neural cell adhesion molecule 1 A neural cell adhesion molecule NCAM that is a translation product of the human NCAM1 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl NCAM|NCAM-1|N-CAM-1|NCAM1|CD56 IUPHARobj:2769 Category=gene. Requested by=CL. protein owl:Class UBERON:0010740 biolink:NamedThing bone of appendage girdle complex A bone that is part of an appendage girdle complex (i.e. any bone in a limb, fin or girdle). tmpxe7fu0cj_hp_relaxed.owl bone of extended limb/fin region|limb bone EMAPA:35494|MA:0000688 uberon owl:Class UBERON:0011368 biolink:NamedThing brachiocephalic muscle The brachiocephalicus is a long and flat, complex of muscles that extends from the lower half of the humeral shaft to the head and neck. The muscle divides into two parts at the clavicular intersection. This is also the point of origin for all the muscles that make up the brachiocephalicus. This point is situated just cranial to the shoulder. The two main sections are the cleidobrachialis which is distal to the clavicular intersection and the cleidocephalicus which extends proximally to the clavivular intersection. The cleidocephalicus can also be divided into the pars cervicalis, which inserts on the broad aponeurosis, over the fibrous raphe of the cranial half of the neck. The other part, the pars mastoideus inserts on the mastoid process of the temporal bone via a strong tendon. The cleidobrachialis extends distally from the clavicular intersection and inserts on the cranial edge of the distal half of the humerus. The tendon that inserts the cleidobrachialis lies between the brachialis muscle and the biceps brachii. As a result of the brachiocephalicus spanning a large region it has the ability to provide a number of actions. These include extending the shoulder joint, protracts the limb, provides lateral movement of the head and allows the neck to be depressed. tmpxe7fu0cj_hp_relaxed.owl brachiocephalicus EMAPA:37685 The brachiocephalicus is more complex than other muscles of the forelimb. It consists of 2 elements that unite at the clavicle in dogs. In dogs the caudal part, known as the cleidobrachialis, runs from the clavicle to the humerus and is closely associated with the deltoid. The cranial portion runs from the clavicle to various attachments via a broad aponeurosis on the upper part of the head and neck. It is called the cleidomastoideus in the dog because it inserts on the mastoid process of the temporal bone. It may have a different name, like cleido-occipitalis, in other mammals. The name brachiocephalicus signifies that this complex of muscles runs from the upper arm to the head and does not specify the details of muscle attachments because these vary so much from species to species. The brachiocephalicus advances the limb and may also extend the shoulder joint, but this depends on the cranial attachment being fixed and the limb being free to move. However, when the forelimb is firmly on the ground and the head is free to move, it forces the head and neck either ventrally or to one side depending on whether or not both muscles act in tandem uberon owl:Class HP:0003745 biolink:NamedThing Sporadic Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. tmpxe7fu0cj_hp_relaxed.owl Isolated cases|No previous family history UMLS:C1853237 HP:0003769|HP:0003747|HP:0001420 human_phenotype owl:Class HP:0000005 biolink:NamedThing Mode of inheritance The pattern in which a particular genetic trait or disorder is passed from one generation to the next. tmpxe7fu0cj_hp_relaxed.owl Inheritance UMLS:C1708511 HP:0001461|HP:0001453 human_phenotype owl:Class GO:0060540 biolink:NamedThing diaphragm morphogenesis The process in which the anatomical structures of the diaphragm are generated and organized. tmpxe7fu0cj_hp_relaxed.owl dph 2009-04-10T08:47:51Z biological_process owl:Class CHEBI:16541 biolink:NamedThing protein polypeptide chain A naturally occurring polypeptide synthesized at the ribosome. tmpxe7fu0cj_hp_relaxed.owl Protein|polypeptide chain|protein polypeptide chains KEGG:C00017 CHEBI:8526 chebi_ontology owl:Class CHEBI:15841 biolink:NamedThing polypeptide A peptide containing ten or more amino acid residues. tmpxe7fu0cj_hp_relaxed.owl polipeptido|Polypeptid|Polypeptide|polypeptides C4H6N2O3R2(C2H2NOR)n KEGG:C00403 CHEBI:14860|CHEBI:8314 chebi_ontology owl:Class HP:0010416 biolink:NamedThing Curved distal phalanx of the 2nd toe A deviation from the normal straight form of the distal phalanx of the 2nd toe. tmpxe7fu0cj_hp_relaxed.owl Curved outermost bone of the 2nd toe UMLS:C4023840 doelkens 2009-07-16T12:44:41Z human_phenotype owl:Class HP:0031404 biolink:NamedThing Impaired antigen-specific response An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). tmpxe7fu0cj_hp_relaxed.owl Impaired adaptive immune response 2017-09-03 15:36:45+00:00 peter owl:Class HP:0010978 biolink:NamedThing Abnormality of immune system physiology A functional abnormality of the immune system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023616 peter 2011-02-07T04:28:55Z owl:Class PATO:0000386 biolink:NamedThing hard A hardness quality of being rigid and resistant to pressure. tmpxe7fu0cj_hp_relaxed.owl firm|tough|impenetrable quality owl:Class PATO:0000048 biolink:NamedThing hardness A physical quality inhering in a bearer by virtue of the bearer's resistance to pressure, being broken, or pierced tmpxe7fu0cj_hp_relaxed.owl impenetrability|toughness quality owl:Class HP:0011904 biolink:NamedThing Persistence of hemoglobin F Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. tmpxe7fu0cj_hp_relaxed.owl Increased hemoglobin F|Persistence of haemoglobin F|Persistence of HbF|Increased haemoglobin F UMLS:C0239941 peter 2012-06-03T05:03:00Z human_phenotype owl:Class HP:0034127 biolink:NamedThing Anti-GQ1b IgG antibody positivity The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:49:30+00:00 peter owl:Class HP:0034122 biolink:NamedThing Anti-GQ1b antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:43:47+00:00 peter owl:Class HP:0012293 biolink:NamedThing Abnormal genital pigmentation An abnormal pigmentation pattern of the external genitalia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022965 peter 2013-04-11T06:02:08Z human_phenotype owl:Class HP:0000811 biolink:NamedThing Abnormal external genitalia tmpxe7fu0cj_hp_relaxed.owl Abnormal external genitalia UMLS:C4025825 human_phenotype owl:Class HP:0100865 biolink:NamedThing Broad ischia Increased width of the ischium, which forms the lower and back part of the hip bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1836868 doelkens 2011-11-30T11:09:10Z HP:0008814 human_phenotype owl:Class HP:0003174 biolink:NamedThing Abnormality of the ischium An anomaly of the ischium, which forms the lower and back part of the hip bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the ischial bones|Anomaly of the ischium UMLS:C0685661|SNOMEDCT_US:93008005 The ischium, together with the ilium and the pubis, forms the hip bone (os coxae). human_phenotype owl:Class PATO:0001555 biolink:NamedThing has number of The number of parts of a particular type that the bearer entity has. This is a relational quality, and thus holds between two entities: the bearer of the quality, and the type of parts. tmpxe7fu0cj_hp_relaxed.owl number of|extra or missing physical or functional parts|mereological quality|has or lacks parts of type|number|cardinality OBO_REL:has_part quality owl:Class UBERON:0001487 biolink:NamedThing pes joint A skeletal joint that is part of a pes [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl articulationes pedis|joints of foot|foot joint|joint of terminal segment of free lower limb|joint of pes|hind limb autopod joint|pedal joint MESH:D033023|EMAPA:32949|GAID:256|MA:0000464|FMA:35194 TODO check FMA - use the set class for now uberon owl:Class UBERON:0003840 biolink:NamedThing hindlimb joint A limb joint that is part of a hindlimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl limb joint of lower extremity|hind limb limb joint|limb joint of hindlimb|joint of free lower limb|inferior member joint of limb|hindlimb limb joint|joint of limb of hindlimb|lower extremity joint of limb|lower extremity limb joint|joint of limb of lower extremity|limb joint of inferior member|joint of limb of inferior member|inferior member limb joint|hind limb joint of limb|joint of limb of hind limb|limb joint of hind limb|joint of lower limb|hindlimb joint of limb EMAPA:32635|MA:0000662 uberon owl:Class NCBITaxon:142796 biolink:NamedThing Eumycetozoa tmpxe7fu0cj_hp_relaxed.owl Mycetozoa|mycetozoans|Eumycetozoa Zopf, 1884 GC_ID:1|PMID:9342353|PMID:11062127 ncbi_taxonomy owl:Class NCBITaxon:2605435 biolink:NamedThing Evosea tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:49096 biolink:NamedThing 3-aminoisobutyrate A beta-amino acid anion that is the conjugate base of 3-aminoisobutyric acid, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl 3-amino-2-methylpropanoate|beta-aminoisobutyrate -1 C4H8NO2 InChI=1S/C4H9NO2/c1-3(2-5)4(6)7/h3H,2,5H2,1H3,(H,6,7)/p-1 QCHPKSFMDHPSNR-UHFFFAOYSA-M 102.11186 102.05605 CC(CN)C([O-])=O PMID:17190852 chebi_ontology owl:Class CHEBI:49095 biolink:NamedThing beta-amino-acid anion tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class GO:0000278 biolink:NamedThing mitotic cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. tmpxe7fu0cj_hp_relaxed.owl mitosis Wikipedia:Mitosis Note that this term should not be confused with 'GO:0140014 ; mitotic nuclear division'. 'GO:0000278 ; mitotic cell cycle represents the entire mitotic cell cycle, while 'GO:0140014 ; mitotic nuclear division' specifically represents the actual nuclear division step of the mitotic cell cycle. GO:0007067 biological_process owl:Class GO:0007049 biolink:NamedThing cell cycle The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. tmpxe7fu0cj_hp_relaxed.owl cell-division cycle Wikipedia:Cell_cycle biological_process owl:Class PR:000030035 biolink:NamedThing G-protein coupled receptor A protein that has G protein-coupled receptor (GPCR) activity. Each GPCR consists of a single polypeptide with an extracellular N-terminus, an intracellular C-terminus and seven hydrophobic transmembrane domains (TM1-TM7) linked by three extracellular loops (ECL1-ECL3) and three intracellular loops (ICL1-ICL3). GPCRs function as part of a heterotrimeric complex to transmit an extracellular signal across the membrane by activating an associated G-protein via the exchange of GDP for GTP on the alpha subunit. tmpxe7fu0cj_hp_relaxed.owl fam:GPCR|7TM receptor|seven-transmembrane receptor IUPHARfam:694 Category=family. Classification based on GRAFS system. [PMID:12761335] protein owl:Class GO:0046889 biolink:NamedThing positive regulation of lipid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. tmpxe7fu0cj_hp_relaxed.owl up-regulation of lipid biosynthetic process|positive regulation of lipid anabolism|positive regulation of lipid biosynthesis|stimulation of lipid biosynthetic process|up regulation of lipid biosynthetic process|activation of lipid biosynthetic process|positive regulation of lipogenesis|positive regulation of lipid synthesis|positive regulation of lipid formation|upregulation of lipid biosynthetic process biological_process owl:Class CHEBI:35780 biolink:NamedThing phosphate ion A phosphorus oxoanion that is the conjugate base of phosphoric acid. tmpxe7fu0cj_hp_relaxed.owl phosphate|phosphate ions|Pi chebi_ontology owl:Class CHEBI:33461 biolink:NamedThing phosphorus oxoanion tmpxe7fu0cj_hp_relaxed.owl oxoanions of phosphorus|phosphorus oxoanions|phosphorus oxoanion chebi_ontology owl:Class HP:0009977 biolink:NamedThing Duplication of the proximal phalanx of the 4th finger Partial or complete duplication of the fourth proximal phalanx of hand. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the proximal phalanx of the 4th finger|Duplication of the proximal bone of the ring finger UMLS:C4021356 doelkens 2009-05-26T02:20:08Z human_phenotype owl:Class UBERON:0014389 biolink:NamedThing gustatory papilla of tongue A papilla that contain taste buds, including the fungiform, foliate, and circumvallate papillae. tmpxe7fu0cj_hp_relaxed.owl gustatory papillae|gustatory papilla|taste papilla|taste papillae FMA:54822 uberon owl:Class UBERON:0001726 biolink:NamedThing papilla of tongue tmpxe7fu0cj_hp_relaxed.owl lingual papilla|tongue papilla NCIT:C33258|BIRNLEX:4102|SCTID:368728006|MA:0001593|FMA:54819|UMLS:C1289183|EMAPA:32777|UMLS:C0226964 uberon owl:Class UBERON:0022350 biolink:NamedThing visceral serous membrane Serous membrane layer that is adjacent to and lines an organ. tmpxe7fu0cj_hp_relaxed.owl visceral wall of serous membrane FMA:15860 uberon owl:Class CHEBI:74345 biolink:NamedThing 1-(5-hydroxy-2-oxo-2,3-dihydroimidazol-4-yl)urea An imidazolidinone that is imidazolin-2-one substituted at positions 4 and 5 by hydroxy and ureido groups respectively. tmpxe7fu0cj_hp_relaxed.owl allantoin, enol-form|2-oxo-4-hydroxy-5-ureidoimidazoline|1-(5-hydroxy-2-oxo-2,3-dihydro-1H-imidazol-4-yl)urea 0 C4H6N4O3 InChI=1S/C4H6N4O3/c5-3(10)6-1-2(9)8-4(11)7-1/h9H,(H3,5,6,10)(H2,7,8,11) MLVVTNIFHMERMU-UHFFFAOYSA-N 158.11540 158.04399 NC(=O)Nc1[nH]c(=O)[nH]c1O PMID:20826786 chebi_ontology owl:Class CHEBI:55370 biolink:NamedThing imidazolidinone An imidazolidine containing one or more oxo groups. tmpxe7fu0cj_hp_relaxed.owl imidazolidinones chebi_ontology owl:Class HP:0007922 biolink:NamedThing Hypermyelinated retinal nerve fibers tmpxe7fu0cj_hp_relaxed.owl Retinal striation|Hypermyelinated retinal nerve fibres UMLS:C1849151 HP:0007654 human_phenotype owl:Class HP:0012447 biolink:NamedThing Abnormal myelination Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857704 peter 2013-11-23T03:45:58Z owl:Class HP:0008828 biolink:NamedThing Delayed proximal femoral epiphyseal ossification Developmental delay of ossification of the proximal epiphysis of the femur. tmpxe7fu0cj_hp_relaxed.owl Delayed ossification of the proximal femoral epiphysis|Delayed ossification proximal femoral epiphyses UMLS:C1855222 The proximal femoral epiphyseal ossification center normally appears at about age 6 months. human_phenotype owl:Class HP:0009107 biolink:NamedThing Abnormal ossification involving the femoral head and neck tmpxe7fu0cj_hp_relaxed.owl Abnormal maturation of thigh bone head and neck UMLS:C4024595 peter 2008-04-04T08:42:00Z human_phenotype owl:Class HP:3000047 biolink:NamedThing Abnormal glossopharyngeal nerve morphology Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX). tmpxe7fu0cj_hp_relaxed.owl Abnormality of glossopharyngeal nerve UMLS:C4073255 The glossopharyngeal nerve originates in the medulla oblongata. It Innervates the oropharynx, carotid body and sinus, as well as the posterior third of the tongue (where it mediates taste sensation), the middle ear cavity and the Eustachian tube. Additionally, it innervates the stylopharyngeus muscle of the pharynx. vasilevs 2015-08-07T01:08:41Z human_phenotype owl:Class UBERON:0002561 biolink:NamedThing lumen of central nervous system The cavity that is enclosed by the central nervous system. In vertebrates this is the cavity that includes as parts ventricular cavities and the central canal of the spinal cord that develops from the lumen of the neura tube. tmpxe7fu0cj_hp_relaxed.owl neuraxis lumen|cavity of neuraxis|cavity of ventricular system of neuraxis|neuraxis cavity BIRNLEX:1029|FMA:75007 uberon owl:Class HP:0009232 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 5th finger Fusion of the proximal phalanx of the 5th finger with another bone. tmpxe7fu0cj_hp_relaxed.owl Fused innermost bone of pinkie finger|Fused innermost bone of little finger|Fused innermost bone of pinky finger UMLS:C4024512 doelkens 2009-01-05T06:11:33Z human_phenotype owl:Class HP:0004218 biolink:NamedThing Symphalangism of the 5th finger Fusion of two or more bones of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Fused pinkie finger bones|Fused pinky finger bones|Fifth finger symphalangism|Fused little finger bones|Symphalagism of the little finger UMLS:C4021676 human_phenotype owl:Class HP:0010539 biolink:NamedThing Thin calvarium The presence of an abnormally thin calvarium. tmpxe7fu0cj_hp_relaxed.owl Thin cranial bone|Thin skull bone UMLS:C1856231|UMLS:C4280379 peter 2009-09-21T10:21:29Z human_phenotype owl:Class HP:0002683 biolink:NamedThing Abnormality of the calvaria Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cranium|Abnormality of calvarium|Abnormality of cranial vault|Abnormality of the skullcap|Abnormality of the skull cap UMLS:C4280561|UMLS:C4025691 The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature. human_phenotype owl:Class HP:0025262 biolink:NamedThing Stiff hip A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity. tmpxe7fu0cj_hp_relaxed.owl Stiff hip|Hip stiffness 2016-12-18 01:15:11+00:00 HPO:probinson owl:Class HP:0001387 biolink:NamedThing Joint stiffness Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. tmpxe7fu0cj_hp_relaxed.owl Stiff joints|Joint stiffness|Stiff joint SNOMEDCT_US:84445001|UMLS:C0162298 HP:0003033|HP:0002775 human_phenotype owl:Class HP:0040055 biolink:NamedThing Short lower eyelashes tmpxe7fu0cj_hp_relaxed.owl Short lower eyelashes|Decreased length of lower eyelashes UMLS:C4022463 HPO:skoehler owl:Class HP:0040052 biolink:NamedThing Abnormality of lower eyelashes tmpxe7fu0cj_hp_relaxed.owl Abnormality of lower eyelashes UMLS:C4022466 HPO:skoehler owl:Class GO:0030886 biolink:NamedThing negative regulation of myeloid dendritic cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid dendritic cell activation. tmpxe7fu0cj_hp_relaxed.owl down regulation of myeloid dendritic cell activation|inhibition of myeloid dendritic cell activation|downregulation of myeloid dendritic cell activation|down-regulation of myeloid dendritic cell activation biological_process owl:Class GO:0030885 biolink:NamedThing regulation of myeloid dendritic cell activation Any process that modulates the frequency or rate of myeloid dendritic cell activation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0011110 biolink:NamedThing Recurrent tonsillitis Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. tmpxe7fu0cj_hp_relaxed.owl Recurrent inflammation of tonsils UMLS:C0040425|SNOMEDCT_US:90176007|MSH:D014069 peter 2011-06-10T07:46:38Z owl:Class HP:0030799 biolink:NamedThing Scaphocephaly Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:4191007|MSH:D003398|UMLS:C0265534 Dolichocephaly is a term in wide use to describe any long narrow head, with a cephalic index usually below 75%. Scaphocephaly, derived from the Greek skaphe (a light boat or skiff), describes a specific variety of a long narrow head that resembles an inverted boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance to the skull, with the widest part of the skull in the temporal rather than parietal area and with palpable ridging over part or all of the sagittal suture (PMID:16156241). owl:Class HP:0000268 biolink:NamedThing Dolichocephaly An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. tmpxe7fu0cj_hp_relaxed.owl Large dolichocephalic skull|Narrow head shape|Turridolichocephaly|Long, narrow head|Tall and narrow skull|Narrow skull shape|Narrow cranium shape UMLS:C4280654|SNOMEDCT_US:72239002|UMLS:C4280653|UMLS:C4280656|UMLS:C4280655|UMLS:C0221358 Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). HP:0005440|HP:0000258 human_phenotype owl:Class UBERON:0006246 biolink:NamedThing humerus pre-cartilage condensation A humerus endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl humeral pre-cartilage condensation EHDAA2:0000788|EMAPA:17427|VHOG:0000950|EHDAA:4192 uberon owl:Class UBERON:0015053 biolink:NamedThing humerus endochondral element A humerus bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl humerus skeletal element|humerus element uberon owl:Class HP:0000606 biolink:NamedThing Abnormality of the periorbital region An abnormality of the region situated around the orbit of the eye. tmpxe7fu0cj_hp_relaxed.owl Malformation of the periorbital region|Abnormality of the region around the eye|Deformity of the periorbital region|Abnormality of the region around the eye socket|Anomaly of the periorbital region UMLS:C4025837 human_phenotype owl:Class GO:0060404 biolink:NamedThing axonemal microtubule depolymerization The removal of tubulin heterodimers from one or both ends of an axonemal microtubule. An axonemal microtubule is a microtubule in the axoneme of a cilium or flagellum; an axoneme contains nine modified doublet microtubules surrounding a pair of single microtubules. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0061523 biolink:NamedThing cilium disassembly A cellular process that results in the breakdown of a cilium. tmpxe7fu0cj_hp_relaxed.owl cilium resorption Note that we deem cilium and microtubule-based flagellum to be equivalent. dph 2013-04-18T14:59:59Z biological_process owl:Class HP:0005384 biolink:NamedThing Defective B cell activation A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of tmpxe7fu0cj_hp_relaxed.owl UMLS:C1846551 human_phenotype owl:Class HP:0005372 biolink:NamedThing Abnormality of B cell physiology An abnormality of the physiological functioning of B cells. tmpxe7fu0cj_hp_relaxed.owl Reduced B cell function|Abnormality of B cell physiology UMLS:C1849242 This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells. HP:0005398 human_phenotype owl:Class HP:0032899 biolink:NamedThing Focal orofacial automatism seizure A type of focal automatism seizure characterized by orofacial automatisms at onset. tmpxe7fu0cj_hp_relaxed.owl These may include involuntary lip smacking, lip pursing, chewing, swallowing, clicking sounds, or eye-blinking. peter owl:Class HP:0032898 biolink:NamedThing Focal automatism seizure A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity. tmpxe7fu0cj_hp_relaxed.owl An automatism is a coordinated, repetitive motor activity, often resembling a voluntary movement, but undertaken without volition. peter owl:Class GO:0061298 biolink:NamedThing retina vasculature development in camera-type eye The process whose specific outcome is the progression of the vasculature of the retina over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl retinal vasculature development dph 2010-09-06T03:27:06Z biological_process owl:Class GO:0001944 biolink:NamedThing vasculature development The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. tmpxe7fu0cj_hp_relaxed.owl vascular system development biological_process owl:Class GO:0030194 biolink:NamedThing positive regulation of blood coagulation Any process that activates or increases the frequency, rate or extent of blood coagulation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of blood coagulation|activation of blood coagulation|up regulation of blood coagulation|upregulation of blood coagulation|stimulation of blood coagulation biological_process owl:Class UBERON:0010562 biolink:NamedThing pedal digit 1 mesenchyme Mesenchyme that is part of a developing pedal digit 1. tmpxe7fu0cj_hp_relaxed.owl pedal digit I mesenchyme|foot digit 1 mesenchyme|hind limb digit 1 mesenchyme EHDAA2:0002039|EMAPA:17462 uberon owl:Class HP:0009654 biolink:NamedThing Osteolytic defect of thumb phalanx Dissolution or degeneration of bone tissue of one or more phalanges of the thumb. tmpxe7fu0cj_hp_relaxed.owl Osteolytic defects of the phalanges of the thumb UMLS:C4020905 Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness'). doelkens 2009-01-29T05:29:26Z human_phenotype owl:Class HP:0009602 biolink:NamedThing Abnormality of thumb phalanx A structural anomaly of one or more phalanges of the thumb. tmpxe7fu0cj_hp_relaxed.owl Abnormality of thumb phalanges|Abnormality of the thumb bones UMLS:C4021428 doelkens 2009-01-29T01:10:39Z HP:0004063|HP:0004064 human_phenotype owl:Class UBERON:0034901 biolink:NamedThing cervical sympathetic nerve trunk The cervical ganglia are paravertebral ganglia of the sympathetic nervous system. These emerging postganglionic nerves synapse with preganglionic nerves from the thoracic spinal cord. They consist of three paravertebral ganglia: superior cervical ganglion middle cervical ganglion inferior cervical ganglion. The inferior ganglion may be fused with the first thoracic ganglion to form a single structure, the stellate ganglion. Nerves emerging from cervical sympathetic ganglia contribute to the cardiac plexus, among other things. tmpxe7fu0cj_hp_relaxed.owl cervical sympathetic trunk|cervical sympathetic chain|cervical part of sympathetic trunk FMA:6261 uberon owl:Class UBERON:0004295 biolink:NamedThing sympathetic nerve trunk A nerve trunk that is part of a sympathetic nervous system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl sympathetic nervous system nerve trunk|nerve trunk of sympathetic nervous system|nerve trunk of sympathetic part of autonomic division of nervous system EMAPA:35845|MA:0000227|EHDAA2:0001970 uberon owl:Class HP:0003325 biolink:NamedThing Limb-girdle muscle weakness Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. tmpxe7fu0cj_hp_relaxed.owl Muscular weakness, limb-girdle|Limb girdle weakness|Muscle weakness, limb-girdle UMLS:C1858127 HP:0008971 owl:Class HP:0009127 biolink:NamedThing Abnormality of the musculature of the limbs tmpxe7fu0cj_hp_relaxed.owl Abnormal limb muscles|Muscle issues in the arms and/or legs UMLS:C4024582 peter 2008-04-07T02:00:00Z human_phenotype owl:Class UBERON:0005701 biolink:NamedThing lower jaw molar odontogenic papilla An odontogenic papilla that is part of a lower jaw molar. tmpxe7fu0cj_hp_relaxed.owl lower jaw molar dental papilla|lower molar mesenchyme EHDAA2:0001027|EMAPA:17923|EHDAA:8015 uberon owl:Class UBERON:0001727 biolink:NamedThing taste bud A specialized receptor organ that is a collection of cells spanning the gustatory epithelium. tmpxe7fu0cj_hp_relaxed.owl tastebud|caliculus gustatorius|taste-bud|tastebuds|taste buds TAO:0001074|FMA:54825|GAID:815|VHOG:0000130|BTO:0000989|MESH:A08.800.550.700.120.800|XAO:0000445|NCIT:C96518|OpenCyc:Mx4rvVjan5wpEbGdrcN5Y29ycA|EMAPA:35850|UMLS:C0039337|MA:0001591|AAO:0010573|BIRNLEX:4101|Wikipedia:Taste_bud|ZFA:0001074|CALOHA:TS-1015|SCTID:362099006|http://uri.neuinfo.org/nif/nifstd/nifext_14 http://upload.wikimedia.org/wikipedia/commons/5/5a/Gray1018.png uberon owl:Class One of a number of receptor cell nests located in the epithelium of the papillae of the tongue and in the soft palate, epiglottis, and pharynx that mediate the sense of taste. [TFD][VHOG]|A chemoreceptive organ.[AAO] Experients in amphibia have shown that an intrinsic feature of the pharyngeal endoderm is its ability to generate taste buds and this capacity must have been acquired by the endoderm at the origin of the vertebrates.[well established][VHOG] In humans, saste buds may be found on the tongue, soft palatte, epiglottis and upper pharynx. In other species they may be found in more unusual places, such as the trunk, or on the barbels or fins of fish. arise by inductive interactions between epithelial cells and invading gustatory cells from chorda tympani (facial), glossophrayngeal and vagues nerves ISBN:1607950324 (todo - request cell terms from CL) GO:0033157 biolink:NamedThing regulation of intracellular protein transport Any process that modulates the frequency, rate or extent of the directed movement of proteins within cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0032386 biolink:NamedThing regulation of intracellular transport Any process that modulates the frequency, rate or extent of the directed movement of substances within cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009191 biolink:NamedThing Ivory epiphyses of the metacarpals Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the long bone of hands UMLS:C4024545 doelkens 2008-12-30T02:03:34Z human_phenotype owl:Class HP:0005913 biolink:NamedThing Abnormality of metacarpal epiphyses tmpxe7fu0cj_hp_relaxed.owl Abnormality of end part of long bone of hand UMLS:C4025110 peter 2008-03-27T02:13:00Z human_phenotype owl:Class HP:0009055 biolink:NamedThing Generalized limb muscle atrophy Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. tmpxe7fu0cj_hp_relaxed.owl Generalised limb muscle atrophy|Generalized muscle wasting|Generalised muscle wasting|Generalized muscle atrophy, proximal and distal|Generalised muscle atrophy, proximal and distal UMLS:C1838114 HP:0003788 human_phenotype owl:Class HP:0003700 biolink:NamedThing Generalized amyotrophy Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. tmpxe7fu0cj_hp_relaxed.owl Generalized muscle atrophy|Generalised muscle degeneration|Diffuse muscle atrophy|Generalized muscle degeneration|Muscle atrophy, diffuse|Diffuse muscle wasting|Muscular atrophy, generalized|Muscle atrophy, generalized|Generalised amyotrophy|Muscle atrophy, generalised|Muscular atrophy, generalised|Diffuse amyotrophy|Generalised muscle atrophy|Diffuse skeletal muscle wasting UMLS:C1389113 HP:0009052|HP:0009068|HP:0008996|HP:0008987|HP:0009043|HP:0008977|HP:0009074 human_phenotype owl:Class HP:0030794 biolink:NamedThing Abnormal C-peptide level An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion. tmpxe7fu0cj_hp_relaxed.owl Abnormal C peptide level UMLS:C4280765 owl:Class UBERON:0014451 biolink:NamedThing tongue taste bud A taste bud that is located on the tongue, situated on a gustatory papilla. tmpxe7fu0cj_hp_relaxed.owl gustatory papillae taste bud|gustatory papilla taste bud uberon owl:Class UBERON:0012313 biolink:NamedThing 1st arch maxillary ectoderm tmpxe7fu0cj_hp_relaxed.owl ectoderm of maxillary component EHDAA2:0000039|EMAPA:16389 uberon owl:Class UBERON:0002118 biolink:NamedThing right ovary An ovary that is part of a right side of organism [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl NCIT:C33487|UMLS:C0227873|EMAPA:37367|FMA:7213|SCTID:280123002|MA:0001705 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0006652 biolink:NamedThing muscular layer of vagina tmpxe7fu0cj_hp_relaxed.owl vaginal muscularis|tunica muscularis vaginae|muscular coat of vagina FMA:19976|EMAPA:30997 uberon owl:Class UBERON:0006660 biolink:NamedThing muscular coat A region of muscle in many organs in the vertebrate body, adjacent to the submucosa membrane. It is responsible for gut movement such as peristalsis. tmpxe7fu0cj_hp_relaxed.owl tunica externa|muscularis externa|muscularis|transverse muscular fibers|muscular layer|tunica muscularis|muscularis layer|muscularis propria|muscular coat BTO:0004838|UMLS:C0225358 currently this class conflates a generic layer of muscle and a specific layer found lining the digestive tract (the muscularis externa), typically composed of circular and longitudinal layers (although this varies) uberon owl:Class An outer layer of smooth muscle surrounding a hollow or tubular organ as the bladder, esophagus, large intestine, small intestine, stomach, ureter, uterus, and vagina that often consists of an inner layer of circular fibers serving to narrow the lumen of the organ and an outer layer of longitudinal fibers serving to shorten its length[BTO]. typically smooth muscle, but there may be exceptions - in the upper esophagus, part of the externa is skeletal muscle, rather than smooth muscle. GO:0034250 biolink:NamedThing positive regulation of cellular amide metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amides. tmpxe7fu0cj_hp_relaxed.owl positive regulation of amide metabolism biological_process owl:Class GO:0034248 biolink:NamedThing regulation of cellular amide metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amides. tmpxe7fu0cj_hp_relaxed.owl regulation of amide metabolism biological_process owl:Class UBERON:0011104 biolink:NamedThing epiphysis of fifth metacarpal bone An epiphysis that is part of a metacarpal bone of digit 5. tmpxe7fu0cj_hp_relaxed.owl metacarpal 5 epiphysis|fifth metacarpal bone epiphysis FMA:86330 uberon owl:Class HP:0100467 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the outermost bone of the 3rd toe UMLS:C4022060 human_phenotype owl:Class HP:0010152 biolink:NamedThing Enlarged epiphysis of the 1st metatarsal tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the 1st long bone of foot UMLS:C4024007 doelkens 2009-05-29T01:24:17Z human_phenotype owl:Class HP:0010116 biolink:NamedThing Enlarged epiphyses of the hallux tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the big toe bone UMLS:C4024043 doelkens 2009-05-29T01:16:38Z owl:Class CL:1000478 biolink:NamedThing transitional myocyte of sinoatrial node A transitional myocyte that is part of the sinoatrial node. tmpxe7fu0cj_hp_relaxed.owl transitinal myocyte of sinuatrial node FMA:83384 cell owl:Class CHEBI:23116 biolink:NamedThing chlorine atom tmpxe7fu0cj_hp_relaxed.owl chlorine|Chlor|chlorum|Cl|cloro|17Cl|chlore 0 Cl InChI=1S/Cl ZAMOUSCENKQFHK-UHFFFAOYSA-N 35.45270 34.96885 [Cl] WebElements:Cl chebi_ontology owl:Class CHEBI:24473 biolink:NamedThing halogen tmpxe7fu0cj_hp_relaxed.owl halogen|halogenes|group VII elements|halogens|halogeno|Halogene|halogenos|halogene|group 17 elements chebi_ontology owl:Class UBERON:0010291 biolink:NamedThing layer of sclera . tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Sclera#Histology uberon owl:Class GO:0002627 biolink:NamedThing positive regulation of T cell antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of T cell antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl upregulation of T cell antigen processing and presentation|positive regulation of T-lymphocyte antigen processing and presentation|stimulation of T cell antigen processing and presentation|positive regulation of T-cell antigen processing and presentation|activation of T cell antigen processing and presentation|up-regulation of T cell antigen processing and presentation|positive regulation of T lymphocyte antigen processing and presentation|up regulation of T cell antigen processing and presentation biological_process owl:Class HP:0012286 biolink:NamedThing Abnormal hypothalamus morphology Any structural anomaly of the hypothalamus. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of hypothalamus|Abnormality of the hypothalamus|Abnormality of hypothalamus morphology UMLS:C4021095 The hypothalamus is a cone-shaped cerebral structure that projects downward, ending in the pituitary (infundibular) stalk, a tubular connection to the pituitary gland. It is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones. peter 2013-04-09T07:53:16Z HP:0002443 human_phenotype owl:Class HP:0010662 biolink:NamedThing Abnormality of the diencephalon An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023752 The diencephalon comprises the thalamus, hypothalamus, epithalamus, prethalamus or subthalamus and pretectum. peter 2010-02-26T08:02:38Z human_phenotype owl:Class UBERON:0003495 biolink:NamedThing respiratory system arteriole An arteriole that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl MA:0001803|EMAPA:37568 uberon owl:Class UBERON:0001252 biolink:NamedThing adventitia of ureter An adventitia that is part of a ureter. tmpxe7fu0cj_hp_relaxed.owl tunica adventitia (ureter)|ureteral adventitia|ureter adventitia|external adventitia of ureter|tunica adventitia ureteris EMAPA:28114|FMA:15892|MA:0002652 uberon owl:Class GO:0051053 biolink:NamedThing negative regulation of DNA metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving DNA. tmpxe7fu0cj_hp_relaxed.owl down regulation of DNA metabolic process|inhibition of DNA metabolic process|downregulation of DNA metabolic process|negative regulation of DNA metabolism|down-regulation of DNA metabolic process biological_process owl:Class GO:0051052 biolink:NamedThing regulation of DNA metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving DNA. tmpxe7fu0cj_hp_relaxed.owl regulation of DNA metabolism biological_process owl:Class UBERON:0003464 biolink:NamedThing hindlimb bone A bone that is part of a hindlimb region. Examples: any pes phalanx, femur. Counter-examples: ischium, pubis (they are part of the pelvic girdle). tmpxe7fu0cj_hp_relaxed.owl hindlimb bone organ|bone of lower extremity|bone organ of hind limb|hind limb bone organ|bone organ of lower extremity|bone organ of hindlimb|hind limb bone|bone of inferior member|bone of hindlimb|bone of hind limb EFO:0003842|UMLS:C0448188|GAID:198|NCIT:C12982 uberon owl:Class the MA class is actually bone of pelvic complex; in contrast the NCIT class excludes ilium etc UBERON:0037089 biolink:NamedThing wall of orbit tmpxe7fu0cj_hp_relaxed.owl orbit wall FMA:63144 uberon owl:Class UBERON:0000075 biolink:NamedThing subdivision of skeletal system Anatomical cluster consisting of the skeletal elements and articular elements that are part of an individual subdivision of the organism. tmpxe7fu0cj_hp_relaxed.owl skeletal system subdivision|skeletal system part SCTID:118966000|galen:ComplexSkeletalStructure|UMLS:C1519343|NCIT:C34076|FMA:85544 UBERON:0010322 uberon owl:Class GO:0022604 biolink:NamedThing regulation of cell morphogenesis Any process that modulates the frequency, rate or extent of cell morphogenesis. Cell morphogenesis is the developmental process in which the shape of a cell is generated and organized. tmpxe7fu0cj_hp_relaxed.owl regulation of cell shape and cell size|positive regulation of cell shape and cell size|negative regulation of cell shape and cell size biological_process owl:Class GO:0071230 biolink:NamedThing cellular response to amino acid stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. tmpxe7fu0cj_hp_relaxed.owl cellular response to amino acid mah 2009-12-03T02:08:11Z biological_process owl:Class GO:0071417 biolink:NamedThing cellular response to organonitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. tmpxe7fu0cj_hp_relaxed.owl cellular response to organic nitrogen mah 2009-12-14T04:07:27Z biological_process owl:Class UBERON:0016481 biolink:NamedThing bronchial lymph node A lymph node that is part of a bronchus. tmpxe7fu0cj_hp_relaxed.owl NCIT:C32232|MA:0003078 uberon owl:Class GO:2000111 biolink:NamedThing positive regulation of macrophage apoptotic process Any process that activates or increases the frequency, rate or extent of macrophage apoptotic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of AICD|positive regulation of macrophage apoptosis|positive regulation of activation-induced cell death mah 2010-09-15T01:44:21Z biological_process owl:Class GO:2000108 biolink:NamedThing positive regulation of leukocyte apoptotic process Any process that activates or increases the frequency, rate or extent of leukocyte apoptotic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of leukocyte apoptosis mah 2010-09-15T01:42:12Z biological_process owl:Class GO:0106064 biolink:NamedThing regulation of cobalamin metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. tmpxe7fu0cj_hp_relaxed.owl hjd 2017-10-27T17:33:05Z biological_process owl:Class GO:0150033 biolink:NamedThing negative regulation of protein localization to lysosome Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to lysosome. tmpxe7fu0cj_hp_relaxed.owl bc 2018-02-06T17:14:16Z biological_process owl:Class HP:0006866 biolink:NamedThing Midline central nervous system lipomas tmpxe7fu0cj_hp_relaxed.owl Midline CNS lipomas UMLS:C4024973 human_phenotype owl:Class HP:0100251 biolink:NamedThing Multiple central nervous system lipomas The presence of mulitple lipomas located in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl Lipomas of the central nervous system NCIT:C3192|UMLS:C4022180 doelkens 2010-07-14T03:55:50Z owl:Class CL:0001200 biolink:NamedThing lymphocyte of B lineage, CD19-positive A lymphocyte of B lineage that is CD19-positive. tmpxe7fu0cj_hp_relaxed.owl Types of B lineage lymphocytes include B cells and antibody secreting cells (plasmablasts and plasma cells). Lymphocytes of B cell lineage can be distinguished from those of T cell lineage by their lack of CD3e (as part of the T cell receptor complex). https://orcid.org/0000-0001-9990-8331 cell owl:Class HP:0030957 biolink:NamedThing Ventricular septal aneurysm A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion. tmpxe7fu0cj_hp_relaxed.owl Ventricular septal dilatation 2017-03-17 20:01:17+00:00 Interventricular septal aneuryms may involve either the membranous or muscular portion of the interventricular septum. Membranous interventricular septal aneurysm is more common. robinp owl:Class HP:0010438 biolink:NamedThing Abnormal ventricular septum morphology A structural abnormality of the interventricular septum. tmpxe7fu0cj_hp_relaxed.owl Ventricular septum abnormality|Abnormal interventricular septum morphology|Abnormality of the ventricular septum Fyler:1815|UMLS:C4021264 doelkens 2009-07-27T11:59:56Z HP:0001628 human_phenotype owl:Class GO:0045684 biolink:NamedThing positive regulation of epidermis development Any process that activates or increases the frequency, rate or extent of epidermis development. tmpxe7fu0cj_hp_relaxed.owl positive regulation of hypodermis development|positive regulation of epidermal development|activation of epidermis development|up-regulation of epidermis development|up regulation of epidermis development|stimulation of epidermis development|upregulation of epidermis development biological_process owl:Class GO:0045682 biolink:NamedThing regulation of epidermis development Any process that modulates the frequency, rate or extent of epidermis development. tmpxe7fu0cj_hp_relaxed.owl regulation of hypodermis development|regulation of epidermal development biological_process owl:Class UBERON:0011818 biolink:NamedThing superficial fascia Superficial fascia is found in the subcutis in most regions of the body, blending with the reticular layer of the dermis. It is present on the face, over the upper portion of the sternocleidomastoid, at the nape of the neck, and overlying the sternum. It is comprised mainly of loose areolar connective tissue and adipose and is the layer that primarily determines the shape of a body. In addition to its subcutaneous presence, this type of fascia surrounds organs and glands, neurovascular bundles, and is found at many other locations where it fills otherwise unoccupied space. It serves as a storage medium of fat and water; as a passageway for lymph, nerve and blood vessels; and as a protective padding to cushion and insulate. Superficial fascia is present, but does not contain fat, in the eyelids, ear, scrotum, penis and clitoris. tmpxe7fu0cj_hp_relaxed.owl tela subcutanea|subcutaneous tissue|superficial fascial layer BTO:0004525|MESH:D040521|FMA:9630|GAID:929|NCIT:C33660 uberon owl:Class we follow FMA, BTO, NCIT and WP in making this a distinct class from hypodermis. GO:0032722 biolink:NamedThing positive regulation of chemokine production Any process that activates or increases the frequency, rate, or extent of chemokine production. tmpxe7fu0cj_hp_relaxed.owl positive regulation of chemokine biosynthetic process|stimulation of chemokine production|upregulation of chemokine production|positive regulation of chemokine secretion|activation of chemokine production|up-regulation of chemokine production|up regulation of chemokine production tb 2009-12-18T11:28:00Z GO:0045080|GO:0090197 biological_process owl:Class GO:0001819 biolink:NamedThing positive regulation of cytokine production Any process that activates or increases the frequency, rate or extent of production of a cytokine. tmpxe7fu0cj_hp_relaxed.owl stimulation of cytokine production|positive regulation of cytokine biosynthetic process|upregulation of cytokine production|activation of cytokine production|positive regulation of cytokine secretion|up-regulation of cytokine production|up regulation of cytokine production GO:0042108|GO:0050715 biological_process owl:Class UBERON:0001187 biolink:NamedThing testicular artery One of a pair of arteries that is a branch of the abdominal aorta that supplies blood to a male gonad. tmpxe7fu0cj_hp_relaxed.owl spermatic artery|testicular arterial tree|arteria testicularis|testicular arteries|internal spermatic|internal spermatic vessels|spermatic arteries|spermatic vessels|internal spermatic arteries|internal spermatic artery MA:0002063|EMAPA:18621|FMA:14758 http://upload.wikimedia.org/wikipedia/commons/a/af/Gray531.png uberon owl:Class HP:0012300 biolink:NamedThing Ureteral agenesis Failure of the ureter to undergo development. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022959 peter 2013-04-13T06:00:10Z owl:Class HP:0025633 biolink:NamedThing Abnormal ureter morphology A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. tmpxe7fu0cj_hp_relaxed.owl 2019-04-26 17:40:47+00:00 HPO:probinson owl:Class GO:1900450 biolink:NamedThing negative regulation of glutamate receptor signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of glutamate receptor signaling pathway. tmpxe7fu0cj_hp_relaxed.owl inhibition of glutamate signalling pathway|downregulation of glutamate signaling pathway|downregulation of glutamate receptor signaling pathway|down-regulation of glutamate receptor signaling pathway|downregulation of glutamate signalling pathway|down regulation of glutamate receptor signaling pathway|inhibition of glutamate signaling pathway|inhibition of glutamate receptor signaling pathway|negative regulation of glutamate signalling pathway|down-regulation of glutamate signalling pathway|negative regulation of glutamate signaling pathway|down regulation of glutamate signalling pathway|down-regulation of glutamate signaling pathway|down regulation of glutamate signaling pathway rl 2012-04-27T03:45:53Z biological_process owl:Class GO:0061074 biolink:NamedThing regulation of neural retina development Any process that modulates the rate, frequency, or extent of neural retina development, the progression of the neural retina over time from its initial formation to the mature structure. The neural retina is the part of the retina that contains neurons and photoreceptor cells. tmpxe7fu0cj_hp_relaxed.owl dph 2010-03-16T11:47:05Z biological_process owl:Class UBERON:0001423 biolink:NamedThing radius bone The major preaxial endochondral bone in the anterior zeugopod[Phenoscape]. tmpxe7fu0cj_hp_relaxed.owl radius VSAO:0005012|EMAPA:19103|GAID:185|UMLS:C0034627|galen:Radius|AAO:0000788|MA:0001357|FMA:23463|NCIT:C12777|MESH:A02.835.232.087.702|CALOHA:TS-2199|OpenCyc:Mx4rwUsDcZwpEbGdrcN5Y29ycA Due to the presence of the radius in Tetrpodomorph fish this element is not inherently linked to the presence of digits or flexor musculature. The corresponding bone in the posterior fin/limb is the tibia.[Phenoscape]. In four-legged animals, the radius is the main load-bearing bone of the lower forelimb. Its structure is similar in most terrestrial tetrapods, but it may be fused with the ulna in some mammals (such as horses) and reduced or modified in animals with flippers or vestigial forelimbs [ISBN:0-03-910284-X] uberon owl:Class One of the two long bones of endochondral origin of the fore-epipodium; it is located on the lateral side of the ulna. Its upper end articulates with both the humerus and the ulna, whereas the lower articulates with the carpals.[AAO] UBERON:0015001 biolink:NamedThing radius endochondral element The major preaxial endrochondral skeletal element in the anterior zeugopod. tmpxe7fu0cj_hp_relaxed.owl radius skeletal element|radius element uberon owl:Class HP:0100551 biolink:NamedThing Neoplasm of the trachea A neoplasm of the trachea. tmpxe7fu0cj_hp_relaxed.owl Tracheal neoplasm NCIT:C3262|MSH:D014134|SNOMEDCT_US:126703006|UMLS:C0040582 doelkens 2010-12-21T03:44:37Z HP:0012291 human_phenotype owl:Class UBERON:0005218 biolink:NamedThing diencephalon subarachnoid space A subarachnoid space that is part of a diencephalon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl subarachnoid space diencephalon EMAPA:19053|VHOG:0001302 uberon owl:Class Subarachnoid space that is part of the diencephalon. [Bgee_curator][VHOG] UBERON:0000315 biolink:NamedThing subarachnoid space The space between the arachnoid and pia mater. tmpxe7fu0cj_hp_relaxed.owl spatium leptomeningeum|cavum subarachnoideale|spatium subarachnoideum|subarachnoid cavity|cavitas subarachnoidea BTO:0000230|EMAPA:32666|GAID:689|MESH:D013346|FMA:83716 http://upload.wikimedia.org/wikipedia/commons/5/5f/Gray769-en.svg|http://upload.wikimedia.org/wikipedia/commons/f/f8/Gray769.png uberon owl:Class HP:0008457 biolink:NamedThing Caudal interpedicular narrowing Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine. tmpxe7fu0cj_hp_relaxed.owl Caudal narrowing of interpedicular distances UMLS:C1863734 human_phenotype owl:Class HP:0008450 biolink:NamedThing Narrow vertebral interpedicular distance A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. tmpxe7fu0cj_hp_relaxed.owl Narrowing of interpediculate distances|Interpedicular narrowing|Narrow interpediculate distances|Narrow interpedicular space UMLS:C1832598 HP:0008474|HP:0008426|HP:0008448 human_phenotype owl:Class UBERON:0003866 biolink:NamedThing middle phalanx of pes A middle phalanx that is part of a toe [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl middle phalanx of foot|foot middle phalanx|middle pedal phalanx|phalanx media pedis|middle phalanx of toe EMAPA:37311|FMA:75829|MA:0001386 uberon owl:Class CHEBI:25147 biolink:NamedThing mandelate tmpxe7fu0cj_hp_relaxed.owl mandelate ion|alpha-hydroxybenzeneacetic acid, ion(1-)|2-hydroxy-2-(4-hydroxyphenyl)acetate|alpha-hydroxybenzeneacetate|hydroxy(phenyl)acetate|mandelate -1 C8H7O3 InChI=1S/C8H8O3/c9-7(8(10)11)6-4-2-1-3-5-6/h1-5,7,9H,(H,10,11)/p-1 IWYDHOAUDWTVEP-UHFFFAOYSA-M 151.13938 151.04007 OC(C([O-])=O)c1ccccc1 CAS:769-61-9|Gmelin:328159|Beilstein:4135334|Beilstein:3905858 chebi_ontology owl:Class CHEBI:36059 biolink:NamedThing hydroxy monocarboxylic acid anion Any monocarboxylic acid anion carrying at least one hydroxy substituent. tmpxe7fu0cj_hp_relaxed.owl hydroxymonocarboxylic acid anions|hydroxy monocarboxylic acid anions|hydroxymonocarboxylic acid anion chebi_ontology owl:Class UBERON:0007830 biolink:NamedThing pelvic girdle bone/zone A bone element or fused bone that is part of pelvic girdle. tmpxe7fu0cj_hp_relaxed.owl pelvic girdle bone|bone of pelvic girdle MA:0000293|NCIT:C33287|EMAPA:18028|UMLS:C0030786 check sacrum, coccyx (MA does NOT include these) uberon owl:Class typically the ilium, ischium and pubis. These can alternately be considered individual bones, or zones of a single fused bone HP:0000148 biolink:NamedThing Vaginal atresia Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. tmpxe7fu0cj_hp_relaxed.owl Abnormally closed or absent vagina UMLS:C1321884|SNOMEDCT_US:87380008 human_phenotype owl:Class HP:0001827 biolink:NamedThing Genital tract atresia Congenital occlusion of a tube in the genital tract. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025746 peter 2008-02-27T04:08:00Z HP:0001534 owl:Class HP:0011304 biolink:NamedThing Broad thumb Increased thumb width without increased dorso-ventral dimension. tmpxe7fu0cj_hp_relaxed.owl Wide/broad thumb|Wide/broad thumb phalanges|Broad thumbs|Broad thumb|Broad phalanges of the thumb SNOMEDCT_US:249773003|UMLS:C0426891 Note that this term should not be used for thumbs that meet the definition for Macrodactyly. hecht 2012-02-12T11:15:31Z HP:0001240|HP:0001173|HP:0009651|HP:0004073 human_phenotype owl:Class HP:0009768 biolink:NamedThing Broad phalanges of the hand Increased width of the phalanges of the hand. tmpxe7fu0cj_hp_relaxed.owl Widening of phalanges of the hand|Wide hand bones UMLS:C4021391 doelkens 2009-02-02T11:38:04Z HP:0001246|HP:0006260 human_phenotype owl:Class GO:0007528 biolink:NamedThing neuromuscular junction development A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a neuromuscular junction. tmpxe7fu0cj_hp_relaxed.owl neuromuscular junction organization|neuromuscular junction stability|NMJ stability biological_process owl:Class GO:0050808 biolink:NamedThing synapse organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell). tmpxe7fu0cj_hp_relaxed.owl synapse organisation|synapse morphogenesis|synapse organization and biogenesis|synapse development biological_process owl:Class UBERON:0010577 biolink:NamedThing manual digit 3 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit 3 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl hand digit 3 phalanx pre-cartilage condensation|manual digit III phalanx pre-cartilage condensation|fore limb digit 3 phalanx pre-cartilage condensation EHDAA2:0000528|EMAPA:17719 uberon owl:Class UBERON:0010586 biolink:NamedThing manual digit phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit mesenchyme. tmpxe7fu0cj_hp_relaxed.owl forelimb phalanx pre-cartilage condensation|hand phalanx pre-cartilage condensation|hand digit phalanx pre-cartilage condensation|manus phalanx pre-cartilage condensation|fore limb digit phalanx pre-cartilage condensation EMAPA:32639|VHOG:0000954 uberon owl:Class HP:0009517 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of the middle long bone of the index finger UMLS:C4024316 doelkens 2009-01-16T01:12:17Z human_phenotype owl:Class HP:0009492 biolink:NamedThing Fragmentation of the epiphyses of the 2nd finger Fragmented appearance of the epiphyses of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of the index finger UMLS:C4024333 doelkens 2009-01-16T01:07:16Z human_phenotype owl:Class HP:0011348 biolink:NamedThing Abnormal sixth cranial nerve morphology Any structural abnormality of the abducens nerve. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the sixth cranial nerve|Abnormal abducens nerve morphology UMLS:C4023404 The abducens nerve (also known as the sixth cranial nerve or cranioal nerve VI) controls the movement of the lateral rectus muscle of the eye, which moves the eyeball in the outward direction (towards the side of the head). peter 2012-03-01T10:20:44Z owl:Class HP:0001291 biolink:NamedThing Abnormal cranial nerve morphology Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. tmpxe7fu0cj_hp_relaxed.owl Cranial nerve abnormality|Cranial nerve disease|Abnormality of cranial nerve|Cranial nerve involvement|Abnormality of the cranial nerves UMLS:C1854510|UMLS:C4020872 HP:0003480 human_phenotype owl:Class HP:0030321 biolink:NamedThing Abnormal vertebral artery morphology An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the vertebral artery UMLS:C4022512 owl:Class HP:0011111 biolink:NamedThing Abnormality of immune serum protein physiology An abnormality of the concentration or function of circulating immune proteins. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023536 peter 2011-06-12T08:58:47Z human_phenotype owl:Class GO:0006590 biolink:NamedThing thyroid hormone generation tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0042403 biolink:NamedThing thyroid hormone metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HGNC:439 biolink:NamedThing ALPP (human) A protein coding gene ALPP in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class HP:0040299 biolink:NamedThing Decreased circulating free fatty acid level tmpxe7fu0cj_hp_relaxed.owl Low fatty acids level ORCID:0000-0002-5316-1399 owl:Class HP:0040300 biolink:NamedThing Abnormal circulating free fatty acid concentration Any deviation from the normal concentration of a free fatty acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating free fatty acid level ORCID:0000-0002-5316-1399 owl:Class CHEBI:17325 biolink:NamedThing 3-hydroxy-3-methylglutarate(2-) A dicarboxylic acid dianion that results from the removal of a proton from both of the carboxylic acid groups of 3-hydroxy-3-methylglutaric acid. tmpxe7fu0cj_hp_relaxed.owl 3-hydroxy-3-methylpentanedioate|3-hydroxy-3-methylglutarate -2 C6H8O5 InChI=1S/C6H10O5/c1-6(11,2-4(7)8)3-5(9)10/h11H,2-3H2,1H3,(H,7,8)(H,9,10)/p-2 NPOAOTPXWNWTSH-UHFFFAOYSA-L 160.12470 160.03827 CC(O)(CC([O-])=O)CC([O-])=O MetaCyc:CPD-547|KEGG:C03761 CHEBI:11813|CHEBI:20042 chebi_ontology owl:Class CHEBI:22727 biolink:NamedThing benzopyran tmpxe7fu0cj_hp_relaxed.owl benzopyrans Wikipedia:Benzopyran chebi_ontology owl:Class CHEBI:38104 biolink:NamedThing oxacycle Any organic heterocyclic compound containing at least one ring oxygen atom. tmpxe7fu0cj_hp_relaxed.owl heterocyclic organooxygen compounds|organooxygen heterocyclic compounds|oxacycles PMID:17134300 chebi_ontology owl:Class HP:0007078 biolink:NamedThing Decreased amplitude of sensory action potentials A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024943 owl:Class HP:0030179 biolink:NamedThing Abnormal peripheral action potential amplitude An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022596 owl:Class GO:0046189 biolink:NamedThing phenol-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring. tmpxe7fu0cj_hp_relaxed.owl phenol-containing compound formation|phenol-containing compound biosynthesis|phenol-containing compound anabolism|phenol-containing compound synthesis biological_process owl:Class GO:1901617 biolink:NamedThing organic hydroxy compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic hydroxy compound. tmpxe7fu0cj_hp_relaxed.owl organic hydroxy compound formation|organic hydroxy compound synthesis|organic hydroxy compound biosynthesis|organic hydroxy compound anabolism pr 2012-11-13T12:54:36Z biological_process owl:Class HP:0033294 biolink:NamedThing Glomerular lipoprotein thrombus Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 21:30:32+00:00 peter owl:Class HP:0033267 biolink:NamedThing Abnormal glomerular capillary lumen morphology Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 15:58:18+00:00 peter owl:Class HP:0009560 biolink:NamedThing Curved distal phalanx of the 2nd finger Curved appearance of the distal phalanx of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Curved outermost bone of the index finger UMLS:C4024291 doelkens 2009-01-28T04:16:02Z human_phenotype owl:Class HP:0030450 biolink:NamedThing Neuroplasm of the autonomic nervous system A tumor that arises from an element of the autonomic nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072943|NCIT:C5112 owl:Class HP:0100134 biolink:NamedThing Abnormality of the axillary hair Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022287 doelkens 2010-06-24T10:17:00Z owl:Class GO:0046950 biolink:NamedThing cellular ketone body metabolic process The chemical reactions and pathways involving ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone, as carried out by individual cells. Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in an equilibrium with acetoacetate. Ketone bodies may accumulate in excessive amounts in the body in starvation, diabetes mellitus or in other defects of carbohydrate metabolism. tmpxe7fu0cj_hp_relaxed.owl cellular ketone body metabolism biological_process owl:Class GO:0044281 biolink:NamedThing small molecule metabolic process The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. tmpxe7fu0cj_hp_relaxed.owl small molecule metabolism Small molecules in GO include monosaccharides but exclude disaccharides and polysaccharides. jl 2010-01-26T12:05:20Z biological_process owl:Class HP:0008059 biolink:NamedThing Aplasia/Hypoplasia of the macula tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped macula UMLS:C4024742 peter 2008-04-02T03:29:00Z human_phenotype owl:Class HP:0009199 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 5th finger Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the innermost pinky finger bone|Irregular end part of the innermost little finger bone|Irregular end part of the innermost pinkie finger bone UMLS:C4024541 doelkens 2009-01-05T05:09:06Z human_phenotype owl:Class HP:0010273 biolink:NamedThing Irregular epiphyses of the proximal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the innermost hand bones UMLS:C4023928 doelkens 2009-07-06T04:25:12Z human_phenotype owl:Class HP:0100000 biolink:NamedThing Early onset of sexual maturation An early onset of puberty, in this case early does not refer to precocious. tmpxe7fu0cj_hp_relaxed.owl Early onset of sexual maturation UMLS:C4022392 doelkens 2010-05-04T10:35:02Z human_phenotype owl:Class HP:0031518 biolink:NamedThing Absent posterior alpha rhythm Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above. tmpxe7fu0cj_hp_relaxed.owl 2017-09-22 02:28:47+00:00 peter owl:Class HP:0025373 biolink:NamedThing Interictal EEG abnormality Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. tmpxe7fu0cj_hp_relaxed.owl 2017-03-15 13:25:46+00:00 HPO:probinson owl:Class HP:0012368 biolink:NamedThing Flat face Absence of concavity or convexity of the face when viewed in profile. tmpxe7fu0cj_hp_relaxed.owl Flat facial profile|Flat facies|Flat face|Flat facial shape UMLS:C1853241 A useful guide is to imagine that a line connecting the glabella to the anterior most part of the mandible touches the top of the philtrum where it meets the base of the columella. The glabella is the most prominent point on the frontal bone above the root of the nose. If the superior philtrum is anterior to this line the face is convex, if the superior philtrum is posterior to this line the face is concave. peter 2013-10-13T01:49:13Z human_phenotype owl:Class HP:0001999 biolink:NamedThing Abnormal facial shape An abnormal morphology (form) of the face or its components. tmpxe7fu0cj_hp_relaxed.owl Dysmorphic facial features|Deformity of face|Facial dysmorphism|Funny looking face|Abnormal morphology of the face|Abnormal facial shape|Malformation of face|Unusual facial appearance|Distortion of face|Unusual facies|Dysmorphic facies|Distinctive facies SNOMEDCT_US:398206004|SNOMEDCT_US:248200007|UMLS:C4072833|SNOMEDCT_US:32003007|UMLS:C0424503|UMLS:C0266617|UMLS:C1385263|SNOMEDCT_US:398302004|UMLS:C4072832 This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. HP:0004652|HP:0004675|HP:0004649|HP:0004655|HP:0005124|HP:0002260|HP:0002004|HP:0004643 human_phenotype owl:Class CHEBI:33662 biolink:NamedThing annulene A mancude monocyclic hydrocarbon without side chains of the general formula CnHn (n is an even number) or CnHn+1 (n is an odd number). In systematic nomenclature an annulene with seven or more carbon atoms may be named [n]annulene, where n is the number of carbon atoms. tmpxe7fu0cj_hp_relaxed.owl annulene|annulenes chebi_ontology owl:Class UBERON:0035827 biolink:NamedThing right adrenal gland cortex The thick outer layer of the adrenal gland that is in the right side of the abdomen. tmpxe7fu0cj_hp_relaxed.owl right adrenal cortex|cortex of right suprarenal gland|cortex of right adrenal gland FMA:69088 uberon owl:Class UBERON:0001235 biolink:NamedThing adrenal cortex The thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone. tmpxe7fu0cj_hp_relaxed.owl cortex (glandula suprarenalis)|cortex of adrenal gland|suprarenal cortex|suprarenal|cortex of suprarenal gland|adrenal gland cortex|cortex glandulae suprarenalis UMLS:C0001613|MESH:D000302|GAID:447|CALOHA:TS-0015|MA:0000118|EFO:0000237|MAT:0000494|BTO:0000045|XAO:0000165|EMAPA:18427|EV:0100136|VHOG:0001481|FMA:15632|NCIT:C12396|AAO:0011009 http://upload.wikimedia.org/wikipedia/commons/5/5c/Gray1185.png uberon owl:Class All craniates have groups of cells homologous to the mammalian adrenocortical and chromaffin tissues (medulla), but they are scattered in and near the kidneys in fishes. (...) The cortical and chromaffin tissues come together to form adrenal glands in tetrapods.[well established][VHOG] Kardong states that mammals are the first to have distinct cortext and medulla, but this contradicts XAO UBERON:0007762 biolink:NamedThing metatarsophalangeal joint of pedal digit 5 A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 5. tmpxe7fu0cj_hp_relaxed.owl metatarsophalangeal joint of fifth digit of foot|metatarsophalangeal joint of little toe|metatarsophalangeal joint of fifth toe|metatarsophalangeal joint of pedal digit V FMA:35240|EMAPA:26484 uberon owl:Class the name of the structure in EMAPA is incorrect CHEBI:33241 biolink:NamedThing oxoacid derivative tmpxe7fu0cj_hp_relaxed.owl oxoacid derivatives chebi_ontology owl:Class UBERON:0009883 biolink:NamedThing medullary ray A renal, cortical lobule, consisting of the ascending or descending limbs of the loop of Henle or of the collecting tubules; medullary rays are regions where parallel arrays of straight tubules travel perpendicular to the capsule and extend from the cortex to the medulla. tmpxe7fu0cj_hp_relaxed.owl renal medullary ray|kidney medullary ray|Ferrein's pyramid BTO:0001155|EMAPA:37906|FMA:74299 uberon owl:Class FMA says parenchyma, MP says cortex Their name is potentially misleading -- the 'medullary' refers to their destination, not their location. They are located only in the renal cortex, and not in the renal medulla HP:0000338 biolink:NamedThing Hypomimic face A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation. tmpxe7fu0cj_hp_relaxed.owl Dull facial expression|Decreased facial muscle movement|Decreased facial expressions|Hypomimia UMLS:C1862474|UMLS:C4280635|SNOMEDCT_US:248149005|UMLS:C0813217 The movement and position of facial muscles are often interpreted as expressing emotions. Individuals with hypomimic face may be perceived as expressing less emotion than normal. HP:0008769 human_phenotype owl:Class HP:0004673 biolink:NamedThing Decreased facial expression A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. tmpxe7fu0cj_hp_relaxed.owl Decreased facial expression UMLS:C1862474 human_phenotype owl:Class HP:0010369 biolink:NamedThing Abnormality of the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the middle bone of 3rd toe UMLS:C4023877 doelkens 2009-07-16T11:51:17Z human_phenotype owl:Class HP:0031857 biolink:NamedThing Ineffective esophageal peristalsis Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus. tmpxe7fu0cj_hp_relaxed.owl Ineffective esophageal motility 2018-05-05 18:42:33+00:00 Ineffective esophageal motility can be diagnosed by high-resolution manometry if 50% or more swallows are ineffective (failed or weak with the distal contractile integral less than 450 mmHg/s/cm). peter owl:Class HP:0025270 biolink:NamedThing Abnormal esophagus physiology Any physiological abnormality of the esophagus. tmpxe7fu0cj_hp_relaxed.owl Abnormality of oesophagus physiology|Functional abnormality of the oesophagus|Functional abnormality of the esophagus|Abnormality of esophagus physiology 2016-12-18 13:39:06+00:00 HPO:probinson owl:Class HP:0410194 biolink:NamedThing Increased uridine diphosphate glucose-4-epimerase level in plasma An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. tmpxe7fu0cj_hp_relaxed.owl Increased UDP-glucose 4-epimerase level in plasma 2018-05-21 18:23:47+00:00 owl:Class HP:0410193 biolink:NamedThing Abnormal uridine diphosphate glucose-4-epimerase level in plasma An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. tmpxe7fu0cj_hp_relaxed.owl Abnormal UDP-glucose 4-epimerase activity level in plasma 2018-05-21 18:23:41+00:00 owl:Class HP:0100429 biolink:NamedThing Broad proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Wide innermost bone of 4th toe UMLS:C4022098 human_phenotype owl:Class HP:0010382 biolink:NamedThing Abnormal morphology of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Abnormal innermost 4th toe bone UMLS:C4023868 doelkens 2009-07-16T11:51:46Z owl:Class UBERON:0036441 biolink:NamedThing wall of uterine tube tmpxe7fu0cj_hp_relaxed.owl wall of fallopian tube|wall of oviduct|uterine tube wall FMA:18303 uberon owl:Class PATO:0000588 biolink:NamedThing vestigial tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0060936 biolink:NamedThing cardiac fibroblast cell development The process whose specific outcome is the progression of a cardiac fibroblast over time, from its formation to the mature state. A cardiac fibroblast is a connective tissue cell of the heart which secretes an extracellular matrix rich in collagen and other macromolecules. tmpxe7fu0cj_hp_relaxed.owl dph 2009-09-29T01:23:03Z biological_process owl:Class HP:0025147 biolink:NamedThing Beaten bronze macular sheen A shiny appearance of the macula, which is often called a beaten bronze appearance. tmpxe7fu0cj_hp_relaxed.owl Beaten-bronze macular sheen|Beaten metal macular appearance|Beaten-bronze macular appearance 2016-11-29 11:37:39+00:00 This feature may be seen in Stargardt disease. HPO:probinson owl:Class HP:0030519 biolink:NamedThing Congruous heteronymous hemianopia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072998 owl:Class UBERON:0003355 biolink:NamedThing epithelium of incisor An epithelium that is part of a incisor tooth [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl incisor tooth epithelial tissue|incisor epithelium|epithelium of incisor tooth|incisor epithelial tissue|epithelial tissue of incisor tooth|incisor tooth epithelium|epithelial tissue of incisor EMAPA:32890|MA:0003223 uberon owl:Class CHEBI:64628 biolink:NamedThing somatostatin A fourteen-membered heterodetic cyclic peptide comprising the sequence Ala-Gly-Cys-Lys-Asn-Phe-Phe-Trp-Lys-Thr-Phe-Thr-Ser-Cys cyclised by a disulfide bridge between the two Cys residues at positions 3 and 14. tmpxe7fu0cj_hp_relaxed.owl Somatostatin-14|somatostatine|L-alanyl-N-[(4R,7S,10S,13S,16S,19S,22S,25S,28S,31S,34S,37R)-19,34-bis(4-aminobutyl)-31-(2-amino-2-oxoethyl)-13,25,28-tribenzyl-4-carboxy-10,16-bis[(1R)-1-hydroxyethyl]-7-(hydroxymethyl)-22-(1H-indol-3-ylmethyl)-6,9,12,15,18,21,24,27,30,33,36-undecaoxo-1,2-dithia-5,8,11,14,17,20,23,26,29,32,35-undecaazacyclooctatriacontan-37-yl]glycinamide|L-alanylglycyl-L-cysteinyl-L-lysyl-L-asparaginyl-L-phenylalanyl-L-phenylalanyl-L-tryptophyl-L-lysyl-L-threonyl-L-phenylalanyl-L-threonyl-L-seryl-L-cysteine cyclic (3-14) disulfide|somatostatinum|Somatostatin-1|Ala-Gly-cyclo-[Cys-Lys-Asn-Phe-Phe-Trp-Lys-Thr-Phe-Thr-Ser-Cys]|somatostatin|somatostatina|Synthetic growth hormone release-inhibiting hormone 0 C76H104N18O19S2 InChI=1S/C76H104N18O19S2/c1-41(79)64(100)82-37-61(99)83-58-39-114-115-40-59(76(112)113)92-72(108)57(38-95)91-75(111)63(43(3)97)94-71(107)54(33-46-23-11-6-12-24-46)90-74(110)62(42(2)96)93-66(102)51(28-16-18-30-78)84-69(105)55(34-47-36-81-49-26-14-13-25-48(47)49)88-68(104)53(32-45-21-9-5-10-22-45)86-67(103)52(31-44-19-7-4-8-20-44)87-70(106)56(35-60(80)98)89-65(101)50(85-73(58)109)27-15-17-29-77/h4-14,19-26,36,41-43,50-59,62-63,81,95-97H,15-18,27-35,37-40,77-79H2,1-3H3,(H2,80,98)(H,82,100)(H,83,99)(H,84,105)(H,85,109)(H,86,103)(H,87,106)(H,88,104)(H,89,101)(H,90,110)(H,91,111)(H,92,108)(H,93,102)(H,94,107)(H,112,113)/t41-,42+,43+,50-,51-,52-,53-,54-,55-,56-,57-,58-,59-,62-,63-/m0/s1 NHXLMOGPVYXJNR-ATOGVRKGSA-N 1637.87800 1636.71666 C[C@@H](O)[C@@H]1NC(=O)[C@H](CCCCN)NC(=O)[C@H](Cc2c[nH]c3ccccc23)NC(=O)[C@H](Cc2ccccc2)NC(=O)[C@H](Cc2ccccc2)NC(=O)[C@H](CC(N)=O)NC(=O)[C@H](CCCCN)NC(=O)[C@H](CSSC[C@H](NC(=O)[C@H](CO)NC(=O)[C@@H](NC(=O)[C@H](Cc2ccccc2)NC1=O)[C@@H](C)O)C(O)=O)NC(=O)CNC(=O)[C@H](C)N Drug_Central:2997|PMID:21922516|PMID:22251942|PMID:22129035|KEGG:C16022|KEGG:D07431|HMDB:HMDB0013072|CAS:38916-34-6|PMID:22483686|PMID:22147011|PMID:22509294|Reaxys:10148626|LINCS:LSM-5326|Wikipedia:Somatostatin chebi_ontology owl:Class CHEBI:25905 biolink:NamedThing peptide hormone Any peptide with hormonal activity in animals, whether endocrine, neuroendocrine, or paracrine. tmpxe7fu0cj_hp_relaxed.owl polypeptide hormone|peptide hormones chebi_ontology owl:Class UBERON:0004763 biolink:NamedThing endochondral bone tissue Replacement bone tissue that forms within cartilage[VSAO, modified]. tmpxe7fu0cj_hp_relaxed.owl MA:0002836|EMAPA:35304 uberon owl:Class the distinction between endochondral bone and endochondral bone tissue. Some bones may be a mixture of both tissue types. The MA class most likely refers to a tissue type HP:0100726 biolink:NamedThing Kaposi's sarcoma A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV). tmpxe7fu0cj_hp_relaxed.owl UMLS:C0036220|SNOMEDCT_US:109385007|MSH:D012514|SNOMEDCT_US:49937004 doelkens 2011-06-06T04:33:09Z human_phenotype owl:Class GO:0090325 biolink:NamedThing regulation of locomotion involved in locomotory behavior tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0003133 biolink:NamedThing endodermal-mesodermal cell signaling Any process that mediates the transfer of information from endodermal cells to mesodermal cells. tmpxe7fu0cj_hp_relaxed.owl endodermal-mesodermal cell signalling tb 2009-09-22T03:10:29Z biological_process owl:Class GO:0007267 biolink:NamedThing cell-cell signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. tmpxe7fu0cj_hp_relaxed.owl cell-cell signalling biological_process owl:Class UBERON:0001734 biolink:NamedThing palatine uvula Conic projection from the posterior edge of the middle of the soft palate, composed of connective tissue containing a number of racemose glands, and some muscular fibers. tmpxe7fu0cj_hp_relaxed.owl palatine uvula|uvula palatina|uvula|uvula of palate GAID:1285|UMLS:C0042173|NCIT:C12232|FMA:55022|MESH:D014609|EFO:0001386|BTO:0002204 seeAlso - bifid uvula and cleft palate Tonsils:diagram.jpg uberon owl:Class In a study of eight mammals a small underdeveloped uvula was found only in baboons UBERON:0004529 biolink:NamedThing anatomical projection A projection or outgrowth of tissue from a larger body or organ. tmpxe7fu0cj_hp_relaxed.owl anatomical protrusion|lamella|projection|ridge|projections|process of organ|lamellae|flange|processus|process|organ process|lamina|ridges|papilla|shelf|flanges|anatomical process|processes|laminae|shelves|spine|protrusion galen:Ridge|TAO:0001834|NCIT:C61549|AAO:0010278|VSAO:0000180|FMA:67601|XAO:0004020|HAO:0000822 should be declared disjoint from organ, but in some ontologies (e.g. ZFA), structures such as neural spines are classified as bones (and hence organs) uberon owl:Class Anatomical structure that is a natural outgrowth, projection, or appendage. A process can be part of a bone, cartilage, tissue, fin, scale, etc.[VSAO]|Anatomical structure that is a natural outgrowth, projection, or appendage. A process can be part of a bone, cartilage, or tissue.[AAO]|Anatomical structure that is a natural outgrowth, projection, or appendage. A process can be part of a bone, cartilage, tissue, fin, scale, etc.[TAO] HP:0040234 biolink:NamedThing Factor XIII subunit B deficiency Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. tmpxe7fu0cj_hp_relaxed.owl Reduced factor XIII, subunit B MSH:C567688|UMLS:C2750481 Measurement of subunit A or B can be performed by Elisa kits. Adding the more granular term would facilitate mutation analysis as both subunits are encoded by different genes. This is not always performed in the diagnostic workup so 'Reduced factor XIII activity' would sufice. This term has been requested and created by members of the BRIDGE consortium owl:Class HP:0008357 biolink:NamedThing Reduced factor XIII activity Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024692 human_phenotype owl:Class HP:0041216 biolink:NamedThing Fractured distal epiphysis of distal phalanx of manual digit 1 A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1. tmpxe7fu0cj_hp_relaxed.owl bone distal epiphysis of distal phalanx of manual digit 1 owl:Class HP:0009679 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the thumb Epiphysis of the distal phalanx of the thumb having multiple bony fragments. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part thumb outermost long bone UMLS:C4024240 doelkens 2009-01-30T09:18:09Z human_phenotype owl:Class GO:0060562 biolink:NamedThing epithelial tube morphogenesis The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. tmpxe7fu0cj_hp_relaxed.owl dph 2009-04-28T09:33:36Z biological_process owl:Class GO:0035239 biolink:NamedThing tube morphogenesis The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0004851 biolink:NamedThing aorta endothelium The thin layer of flat cells that line the aorta and form a barrier between circulating blood in the lumen and the rest of the vessel wall. tmpxe7fu0cj_hp_relaxed.owl endothelium of adult aorta|endothelium of trunk of aortic tree|aortic endothelium|trunk of systemic arterial tree endothelium|adult aorta endothelium|trunk of aortic tree endothelium|endothelium of aorta|endothelium of trunk of systemic arterial tree NCIT:C49190|EFO:0002597|UMLS:C1706824|BTO:0000394|EMAPA:35134|MA:0000701|CALOHA:TS-0047 uberon owl:Class HP:0011281 biolink:NamedThing Abnormality of urine catecholamine level An abnormal amount of urinary catecholamine concentration. tmpxe7fu0cj_hp_relaxed.owl MP:0011478|UMLS:C4023433 Any anomaly in the urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine. peter 2011-12-30T03:35:18Z owl:Class CHEBI:20702 biolink:NamedThing 2-aminopurines Any aminopurine having the amino substituent at the 2-position. tmpxe7fu0cj_hp_relaxed.owl 2-aminopurines chebi_ontology owl:Class CHEBI:22527 biolink:NamedThing aminopurine Any purine having at least one amino substituent. tmpxe7fu0cj_hp_relaxed.owl aminopurines chebi_ontology owl:Class HP:0000130 biolink:NamedThing Abnormality of the uterus An abnormality of the uterus. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the uterus|Uterine malformations|Uterine abnormalities UMLS:C0266383|SNOMEDCT_US:37849005|MSH:C562565 HP:0008630|HP:0008692 human_phenotype owl:Class HP:0010068 biolink:NamedThing Broad first metatarsal Increased side-to-side width of the first metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Broad 1st metatarsal|Enlarged first metatarsal|Wide 1st long bone of foot UMLS:C1855899 doelkens 2009-05-29T12:13:57Z HP:0008139|HP:0008085|HP:0004709 human_phenotype owl:Class HP:0001783 biolink:NamedThing Broad metatarsal Increased side-to-side width of a metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Wide long bone of foot|Broad metatarsals|Widened metatarsal shaft UMLS:C1842231|UMLS:C1850161 HP:0005907|HP:0008106 human_phenotype owl:Class GO:0006776 biolink:NamedThing vitamin A metabolic process The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene. tmpxe7fu0cj_hp_relaxed.owl vitamin A metabolism biological_process owl:Class GO:0001523 biolink:NamedThing retinoid metabolic process The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity. tmpxe7fu0cj_hp_relaxed.owl retinoid metabolism biological_process owl:Class GO:1902817 biolink:NamedThing negative regulation of protein localization to microtubule Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to microtubule. tmpxe7fu0cj_hp_relaxed.owl inhibition of protein localisation to microtubule|down-regulation of protein localization to microtubule|down regulation of protein localization to microtubule|downregulation of protein localisation to microtubule|inhibition of protein localization to microtubule|down-regulation of protein localisation to microtubule|negative regulation of protein localisation to microtubule|down regulation of protein localisation to microtubule|downregulation of protein localization to microtubule tb 2014-03-27T22:07:18Z biological_process owl:Class HP:0007017 biolink:NamedThing Progressive forgetfulness tmpxe7fu0cj_hp_relaxed.owl Forgetfullness UMLS:C3277688 owl:Class HP:0002354 biolink:NamedThing Memory impairment An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. tmpxe7fu0cj_hp_relaxed.owl Memory loss|Poor memory|Forgetfulness|Memory impairment|Memory problems MSH:D008569|SNOMEDCT_US:386807006|UMLS:C0542476|UMLS:C0233794|SNOMEDCT_US:55533009|UMLS:C0751295 Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living. HP:0002081|HP:0000747 owl:Class CHEBI:26820 biolink:NamedThing sulfates Salts and esters of sulfuric acid tmpxe7fu0cj_hp_relaxed.owl sulfuric acid derivative|sulphates|sulfates chebi_ontology owl:Class UBERON:0008715 biolink:NamedThing muscle tissue of prostate A muscle tissue that is part of a prostate gland. tmpxe7fu0cj_hp_relaxed.owl prostate muscle tissue|prostatic musclular tissue|prostatic muscle|prostate gland muscle tissue UMLS:C1183911|NCIT:C13100 uberon owl:Class UBERON:0001143 biolink:NamedThing hepatic vein Vein that carries blood away from the liver[ZFA]. tmpxe7fu0cj_hp_relaxed.owl liver vein|vena hepatica|vein of liver|hepatic veins|venae hepaticae TAO:0000670|NCIT:C32736|ZFA:0000670|UMLS:C0019155|XAO:0000387|MA:0003015|GAID:534|FMA:14337|EMAPA:19221|OpenCyc:Mx4rv5GivJwpEbGdrcN5Y29ycA|galen:HepaticVein|MESH:D006503|AAO:0010216 http://upload.wikimedia.org/wikipedia/commons/6/61/Gray1121.png todo - add developmental relationships for other taxa uberon owl:Class UBERON:0004133 biolink:NamedThing salivatory nucleus . tmpxe7fu0cj_hp_relaxed.owl salivary nucleus uberon owl:Class UBERON:0006331 biolink:NamedThing brainstem nucleus A nucleus of brain that is part of a brainstem. tmpxe7fu0cj_hp_relaxed.owl brain stem nucleus EMAPA:32790|MA:0000821 uberon owl:Class GO:0051984 biolink:NamedThing positive regulation of chromosome segregation Any process that activates or increases the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. tmpxe7fu0cj_hp_relaxed.owl up-regulation of chromosome segregation|activation of chromosome segregation|up regulation of chromosome segregation|upregulation of chromosome segregation|stimulation of chromosome segregation biological_process owl:Class UBERON:0004985 biolink:NamedThing mucosa of ejaculatory duct A mucosa that is part of a ejaculatory duct [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucosa of organ of ejaculatory duct|ejaculatory ductal mucosa|organ mucosa of ejaculatory duct|mucous membrane of ejaculatory duct|ejaculatory duct organ mucosa|ejaculatory duct mucous membrane|ejaculatory duct mucosa of organ|ejaculatory duct mucosa FMA:19373 uberon owl:Class CHEBI:15792 biolink:NamedThing malonate(2-) A dicarboxylic acid dianion obtained by the deprotonation of the carboxy groups of malonic acid. tmpxe7fu0cj_hp_relaxed.owl MALONATE ION|(-)OOC-CH2-COO(-)|malonate|propanedioic acid, ion(2-)|malo|propanedioate|malonic acid, ion(2-) -2 C3H2O4 InChI=1S/C3H4O4/c4-2(5)1-3(6)7/h1H2,(H,4,5)(H,6,7)/p-2 OFOBLEOULBTSOW-UHFFFAOYSA-L 102.04558 101.99641 [O-]C(=O)CC([O-])=O Beilstein:3904386|Reaxys:3904386|CAS:156-80-9|KEGG:C00383|PDBeChem:MLI|Gmelin:141932|DrugBank:DB02201 CHEBI:25130|CHEBI:14563|CHEBI:44151 chebi_ontology owl:Class CHEBI:133291 biolink:NamedThing saturated dicarboxylic acid dianion(2-) A carboxylic acid dianion obtained by deprotonation of both carboxy groups of any dicarboxylic acid that contains no carbon-carbon double bonds. tmpxe7fu0cj_hp_relaxed.owl a saturated dicarboxylic acid|saturated dicarboxylate(2-) -2 C2O4R 88.019 87.97966 [O-]C(*C([O-])=O)=O chebi_ontology owl:Class HP:0025597 biolink:NamedThing Inferior oblique muscle restriction Mechanical limitation of the range of movement of the inferior oblique muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 21:15:59+00:00 In contrast to deficits produces by primary muscle weakness, extraocular muscle restriction cannot move passively any more than actively. HPO:probinson owl:Class HP:0025598 biolink:NamedThing Inferior oblique muscle weakness Decreased strength of the inferior oblique muscle. tmpxe7fu0cj_hp_relaxed.owl Inferior oblique palsy 2018-01-13 21:23:31+00:00 HPO:probinson owl:Class HP:0005172 biolink:NamedThing Left posterior fascicular block Conduction block in the posterior division of the left bundle branch of the bundle of His. tmpxe7fu0cj_hp_relaxed.owl Left posterior hemiblock UMLS:C0264913|SNOMEDCT_US:62026008 human_phenotype owl:Class HP:0011713 biolink:NamedThing Left bundle branch block A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. tmpxe7fu0cj_hp_relaxed.owl MSH:D002037|SNOMEDCT_US:63467002|UMLS:C0023211 peter 2012-04-11T08:04:34Z human_phenotype owl:Class UBERON:0004731 biolink:NamedThing neuromere A transverse unitary subdivision of the neural tube that shares a common dorsoventral structure (floor, basal, alar, and roof plates), but each having differential molecular identities and fates; they comprise the secondary prosencephalon, diencephalon (prosomeres), the midbrain (mesomeres), and the hindbrain (rhombomeres). tmpxe7fu0cj_hp_relaxed.owl neural segment|neuromere|neuromeres|neural metamere|neural tube segment|neural tube metameric segment NLX:147842|Wikipedia:Neuromere|TAO:0001328|ZFA:0001328 Melissa Haendel 2009-06-18T09:00:04Z We take the definition of neuromere from Puelles et al, although the existence of mesomeres and prosomeres may not be widely accepted uberon owl:Class A metameric segment of the central nervous system.[ZFA] UBERON:0004732 biolink:NamedThing segmental subdivision of nervous system Any segmental subdivision of a nervous system. Includes metameric developmental segments, such as vertebrates neuromeres. tmpxe7fu0cj_hp_relaxed.owl neuromere FBbt:00005140 revisit this after CARO is revised and/or we have defined metameric segment; note that with the additional of an A/P axis constraint this corresponds to what Richter at al call a neuromere (PMID:21062451) uberon owl:Class GO:0004619 biolink:NamedThing phosphoglycerate mutase activity Catalysis of the reaction: 2-phospho-D-glycerate = 3-phospho-D-glycerate. tmpxe7fu0cj_hp_relaxed.owl PGM|MPGM|D-phosphoglycerate 2,3-phosphomutase activity|diphosphoglycomutase|bisphosphoglyceromutase|phosphoglyceromutase activity|GriP mutase|phosphoglycerate phosphomutase activity|monophosphoglyceromutase activity|PGAM activity|PGA mutase activity|monophosphoglycerate mutase activity MetaCyc:3PGAREARR-RXN|EC:5.4.2.1|Reactome:R-HSA-71654|Reactome:R-HSA-71445|RHEA:15901 molecular_function owl:Class GO:0016868 biolink:NamedThing intramolecular transferase activity, phosphotransferases Catalysis of the transfer of a phosphate group from one position to another within a single molecule. tmpxe7fu0cj_hp_relaxed.owl phosphotransferase activity, with regeneration of donors, apparently catalyzing intramolecular transfers|phosphomutase activity EC:5.4.2.- GO:0016777 molecular_function owl:Class HP:0009460 biolink:NamedThing Aplasia of the 3rd finger Absent 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Absent middle finger UMLS:C4024346 doelkens 2009-01-14T04:56:33Z human_phenotype owl:Class HP:0009318 biolink:NamedThing Aplasia/Hypoplasia of the 3rd finger A small/hypoplastic or absent/aplastic 3rd (middle) finger. tmpxe7fu0cj_hp_relaxed.owl Absent/small middle finger|Absent/underdeveloped middle finger UMLS:C4024446 doelkens 2009-01-12T11:04:08Z human_phenotype owl:Class UBERON:0014883 biolink:NamedThing distal epiphysis of distal phalanx of manual digit 3 A distal epiphysis that is part of a distal phalanx of manual digit 3. tmpxe7fu0cj_hp_relaxed.owl ungual tuberosity of distal phalanx of middle finger|distal epiphysis of distal phalanx of middle finger|head of distal phalanx of third finger|head of distal phalanx of middle finger|distal end of distal phalanx of middle finger|head of distal phalanx of third digit of hand|distal epiphysis of distal phalanx of manual digit III|distal end of distal phalanx of third finger FMA:37633 uberon owl:Class UBERON:0014886 biolink:NamedThing distal epiphysis of distal phalanx of manual digit tmpxe7fu0cj_hp_relaxed.owl head of distal phalanx of digit of hand|distal end of distal phalanx of finger|head of distal phalanx of finger|head of distal phalanx of digit of manus uberon owl:Class PATO:0001645 biolink:NamedThing protruding into A quality inhering into a bearer by virtue of the bearer's extending out above or beyond its surface or boundary into the surface or boundary of another entity. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0001598 biolink:NamedThing protruding A quality inhering in a bearer by virtue of the bearer's extending out above or beyond a surface or boundary. tmpxe7fu0cj_hp_relaxed.owl protruding|relational protruding quality PATO:0001644 quality owl:Class HP:0003899 biolink:NamedThing Round humeral epiphyses tmpxe7fu0cj_hp_relaxed.owl Round end part of long bone in upper arm UMLS:C4025521 human_phenotype owl:Class GO:1905634 biolink:NamedThing regulation of protein localization to chromatin Any process that modulates the frequency, rate or extent of protein localization to chromatin. tmpxe7fu0cj_hp_relaxed.owl regulation of protein localisation to chromatin pga 2016-11-01T16:33:52Z biological_process owl:Class UBERON:0011921 biolink:NamedThing connecting stalk blood islands tmpxe7fu0cj_hp_relaxed.owl insula sanguinea vesiculae umbilicalis|blood island of umbilical vesicle EHDAA2:0003242 uberon owl:Class in EHDAA2 gives rise to connecting stalk blood vessels and extraembryonic umbilical vessels HP:0001311 biolink:NamedThing Abnormal nervous system electrophysiology An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. tmpxe7fu0cj_hp_relaxed.owl Neurophysiologic abnormalities|Neurophysiologic abnormality UMLS:C4021781 HP:0003129|HP:0002531 owl:Class HP:0006683 biolink:NamedThing Abnormal ventricular filling An abnormality of filling of a ventricle with blood during diastole. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025005 Two diastolic properties, the rate of ventricular relaxation and the ventricular compliance are especially important determinants of ventricular filling. owl:Class HP:0030872 biolink:NamedThing Abnormal cardiac ventricular function An abnormality of the cardiac ventricular function. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280733 owl:Class UBERON:0012197 biolink:NamedThing intercostal vein The intercostal veins are a group of veins which drain the area between the ribs. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18762|MA:0003166 uberon owl:Class UBERON:0003909 biolink:NamedThing sinusoid Small blood vessel similar to a capillary but with a fenestrated endothelium. Sinusoids are found in the liver, lymphoid tissue, endocrine organs, and hematopoietic organs such as the bone marrow and the spleen. Sinusoids found within terminal villi of the placenta are not comparable to these; they possess a continuous endothelium and complete basal lamina[WP]. tmpxe7fu0cj_hp_relaxed.owl sinusoidal blood vessel|endothelium of irregular blood filled space|sinusoidal capillary|sinusoidal blood vessel endothelium|sinusoidal endothelium Wikipedia:Sinusoid_(blood_vessel)|FMA:63131|TAO:0005261|SCTID:340163004|ZFA:0005261 uberon owl:Class Fenestrated blood vessel endothelium with pores that are large enough for blood cells to pass. The basal lamina and gap junctions may be discontinuous.[TAO] sinusoidal some sources give discontinuous capillary as synonym but this may be a subtype - see FMA:63198 discontinuous sinusoid (undefined). UBERON:0001982 biolink:NamedThing capillary Any of the smallest blood vessels connecting arterioles with venules. tmpxe7fu0cj_hp_relaxed.owl blood capillary|capillary vessel UMLS:C0935624|EFO:0001906|MA:0000065|BTO:0002045|XAO:0000116|Wikipedia:Capillary|MESH:A07.231.432.410|FMA:63194|AAO:0010252|NLXANAT:090902|NCIT:C12685|OpenCyc:Mx4rvWEU-5wpEbGdrcN5Y29ycA|ZFA:0005250|TAO:0005250|VHOG:0001253|EV:0100035|CALOHA:TS-2006|EMAPA:35198 http://upload.wikimedia.org/wikipedia/commons/2/2f/A_red_blood_cell_in_a_capillary,_pancreatic_tissue_-_TEM.jpg not all sources agree capillary is a blood vessel - consider adopting EMAPA superclass of vascular element uberon owl:Class Any of the tiny blood vessels connecting the arterioles to the venules.[AAO] The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] capillaries lack tunica media and tunica adventitia; only the endothelial wall of the tunica intima belongs UBERON:0015849 biolink:NamedThing canine tusk An cuspid tooth that protrudes beyond the mouth. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0003674 biolink:NamedThing cuspid A tooth that is typically long and pointed and bearing a single cusp. tmpxe7fu0cj_hp_relaxed.owl dogtooth (anatomy)|eye tooth|eyetooth|canine teeth|canine eminence|caniniform tooth|eye teeth|eyeteeth|canine tooth|canine (tooth)|canine|dens caninus|cuspis dentis|dentes canini|fang NCIT:C32258|MESH:A14.254.860.200|GAID:1262|FMA:55636|UMLS:C0010482 Azawakh:K9.jpg uberon owl:Class Most species that develop them normally have four per individual, two in the upper jaw and two in the lower, separated within each jaw by its incisors; humans and dogs are examples. In most animals, canines are the anterior-most teeth in the maxillary bone. The four canines in humans are the two maxillary canines and the two mandibular canines. UBERON:0005051 biolink:NamedThing mediastinum testis The mediastinum testis is a network of fibrous connective tissue that extends from the upper to near the lower extremity of the testis, and is wider above than below. From its front and sides numerous imperfect septa (trabeculæ) are given off, which radiate toward the surface of the organ, and are attached to the tunica albuginea. They divide the interior of the organ into a number of incomplete spaces, called lobules. These are somewhat cone-shaped, being broad at their bases at the surface of the gland, and becoming narrower as they converge to the mediastinum. The mediastinum supports the rete testis and blood vessels of the testis in their passage to and from the substance of the gland[WP]. tmpxe7fu0cj_hp_relaxed.owl hilum of testicle|testis mediastinum|mediastinum of testis|body of highmore EMAPA:18331|FMA:19812|MA:0003240 http://upload.wikimedia.org/wikipedia/commons/b/b5/Hodenschema.svg uberon owl:Class GO:0046112 biolink:NamedThing nucleobase biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleobase, a nitrogenous base that is a constituent of a nucleic acid. tmpxe7fu0cj_hp_relaxed.owl nucleobase biosynthesis|nucleobase anabolism|nucleobase formation|nucleobase synthesis biological_process owl:Class PR:000001836 biolink:NamedThing CD7 molecule A protein that is a translation product of the human CD7 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl TP41|T-cell surface antigen Leu-9|T-cell leukemia antigen|CD7|GP40|T-cell antigen CD7 PIRSF:PIRSF038791 Category=gene. Requested by=CL. protein owl:Class CL:0000153 biolink:NamedThing glycosaminoglycan secreting cell A cell that secretes glycosaminoglycans. tmpxe7fu0cj_hp_relaxed.owl hyaluronic acid secreting cell|GAG secreting cell cell owl:Class CL:0000327 biolink:NamedThing extracellular matrix secreting cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class GO:0014062 biolink:NamedThing regulation of serotonin secretion Any process that modulates the frequency, rate or extent of the regulated release of serotonin. tmpxe7fu0cj_hp_relaxed.owl regulation of serotonin release biological_process owl:Class HP:0009950 biolink:NamedThing Complete duplication of the distal phalanx of the 2nd finger Complete duplication of the distal phalanx of index finger. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the outermost bone of the index finger UMLS:C4024151 doelkens 2009-05-15T02:03:28Z human_phenotype owl:Class HP:0010001 biolink:NamedThing Complete duplication of the distal phalanges of the hand A complete duplication affecting one or more of the distal phalanges of the hand. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the outermost bones of the hand UMLS:C4024118 As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is actually a different entity called a pseudoepiphysis (see corresponding terms), sometimes also referred to as hyperphalangism. doelkens 2009-05-26T03:55:02Z human_phenotype owl:Class HP:0001182 biolink:NamedThing Tapered finger The gradual reduction in girth of the finger from proximal to distal. tmpxe7fu0cj_hp_relaxed.owl Tapered finger|Tapered fingers|Distally tapering fingers|Tapered fingertips|Tapering fingers UMLS:C0426886|SNOMEDCT_US:249768009 HP:0006125|HP:0006111|HP:0007532|HP:0006080|HP:0006244|HP:0005800|HP:0006098|HP:0006032|HP:0005795 human_phenotype owl:Class HP:0100807 biolink:NamedThing Long fingers The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. tmpxe7fu0cj_hp_relaxed.owl Long fingers UMLS:C1858091 doelkens 2011-06-09T01:13:15Z HP:0006010 human_phenotype owl:Class HP:0002464 biolink:NamedThing Spastic dysarthria A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. tmpxe7fu0cj_hp_relaxed.owl Rigid dysarthria SNOMEDCT_US:229684006|MSH:D004401|UMLS:C0454596 owl:Class HP:0010398 biolink:NamedThing Curved proximal phalanx of the 2nd toe A deviation from the normal straight form of the proximal phalanx of the 2nd toe. tmpxe7fu0cj_hp_relaxed.owl Curved innermost bone of 2nd toe UMLS:C4023856 doelkens 2009-07-16T11:58:15Z human_phenotype owl:Class HP:0010350 biolink:NamedThing Curved 2nd toe phalanx A deviation from the normal straight form of one or more phalanges of the second toe. tmpxe7fu0cj_hp_relaxed.owl Curved bones of the 2nd toe|Curved phalanges of the 2nd toe UMLS:C4021288 doelkens 2009-07-16T11:45:34Z human_phenotype owl:Class HP:0010660 biolink:NamedThing Abnormal hand bone ossification An abnormality of the formation and mineralization of any bone of the skeleton of hand. tmpxe7fu0cj_hp_relaxed.owl Abnormal ossification of hand bones|Abnormal maturation of the hand bones|Abnormality of the mineralisation and ossification of bones of the hand UMLS:C4021244 doelkens 2010-02-25T05:18:19Z HP:0005921 human_phenotype owl:Class GO:2000273 biolink:NamedThing positive regulation of signaling receptor activity Any process that activates or increases the frequency, rate or extent of signaling receptor activity. tmpxe7fu0cj_hp_relaxed.owl positive regulation of signalling receptor activity bf 2010-12-02T09:28:50Z biological_process owl:Class HP:0033059 biolink:NamedThing Decreased serum complement C6 A reduced level of the complement component C6 in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Formation of the MAC is triggered by cleavage of C5 by a C5 convertase, which is followed by sequential interaction of C5b with C6, C7, C8, and C9. Assembly of the MAC on a cellular membrane results in its gradual insertion into the lipid bilayer and the formation of a transmembrane channel, which can kill susceptible cells or transmit activation or apoptotic signals. peter owl:Class HP:0033057 biolink:NamedThing Decreased serum terminal complement component Reduced level of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0500101 biolink:NamedThing Gastric fluid xenobiotic Presence of a xenobiotic in gastric fluid. tmpxe7fu0cj_hp_relaxed.owl 2018-05-21 13:46:36+00:00 owl:Class HP:0031838 biolink:NamedThing Presence of xenobiotic Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 13:07:24+00:00 The presence of a xenobiotic in body tissues or fluids can be the result of ingestion of or exposure to substances such as drugs, environmental pollutants, food additives, hydrocarbons, and pesticides. peter owl:Class GO:1901589 biolink:NamedThing axon microtubule bundle An arrangement of closely apposed microtubules running parallel to each other in the axon hillock and initial segment. tmpxe7fu0cj_hp_relaxed.owl microtubule fascicle of axon|microtubule bundle of axon|axon microtubule fascicle NIF_Subcellular:sao707332678 pr 2012-11-07T15:37:12Z cellular_component owl:Class GO:0097427 biolink:NamedThing microtubule bundle An arrangement of closely apposed microtubules running parallel to each other. tmpxe7fu0cj_hp_relaxed.owl microtubule fascicle NIF_Subcellular:sao1872343973 pr 2012-11-07T15:01:27Z cellular_component owl:Class HP:0009670 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the thumb Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the innermost bone of the thumb UMLS:C4024247 doelkens 2009-01-30T09:17:13Z human_phenotype owl:Class HP:0009663 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the thumb This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Abnormality of end part of thumb innermost long bone UMLS:C4024254 doelkens 2009-01-29T05:49:31Z human_phenotype owl:Class HP:0030773 biolink:NamedThing Internuclear ophthalmoplegia An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0152134|MSH:D015835|SNOMEDCT_US:49823009 owl:Class HP:0030140 biolink:NamedThing Oral cavity bleeding Recurrent or excessive bleeding from the mouth. tmpxe7fu0cj_hp_relaxed.owl Oral cavity hemorrhage|Oral cavity bleeding|Bleeding from mouth|Oral cavity haemorrhage UMLS:C4022608 owl:Class HP:0008078 biolink:NamedThing Thin metatarsal cortices tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850162 human_phenotype owl:Class UBERON:0003502 biolink:NamedThing neck blood vessel A blood vessel that is part of a neck [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of neck (volume)|blood vessel of neck|neck (volume) blood vessel EMAPA:37236|MA:0000583 uberon owl:Class NBO:0000266 biolink:NamedThing cognitive behavior phenotype "Observable characteristic of behaviour related to cognitive processes." [NBO:RH] tmpxe7fu0cj_hp_relaxed.owl 2011-04-04T09:01:18Z George Gkoutos behavior_ontology owl:Class UBERON:0013694 biolink:NamedThing brain endothelium Vascular endothelium found in blood vessels of the blood-brain-barrier. tmpxe7fu0cj_hp_relaxed.owl cerebromicrovascular endothelium BTO:0001852|CALOHA:TS-0092|BTO:0003248 uberon owl:Class GO:0060586 biolink:NamedThing multicellular organismal iron ion homeostasis Any process involved in the maintenance of the distribution of iron stores within tissues and organs of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl dph 2009-05-08T02:18:21Z biological_process owl:Class GO:0055072 biolink:NamedThing iron ion homeostasis Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl iron homeostasis biological_process owl:Class HP:0011721 biolink:NamedThing Infracardiac total anomalous pulmonary venous connection Type 3 total anomalous pulmonary venous connection. tmpxe7fu0cj_hp_relaxed.owl Type 3 total anomalous pulmonary venous connection|Infracardiac total anomalous pulmonary venous connexion UMLS:C4021129 peter 2012-04-11T08:52:28Z human_phenotype owl:Class HP:0005160 biolink:NamedThing Total anomalous pulmonary venous return Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium. tmpxe7fu0cj_hp_relaxed.owl Total anomalous pulmonary venous connection|Total anomalous pulmonary venous drainage MSH:D012587|Fyler:0900|UMLS:C0036400|SNOMEDCT_US:111323005|SNOMEDCT_US:39905002|Fyler:900 Pulmonary veins drain through abnormal connections to the right atrium. HP:0005175|HP:0005153 human_phenotype owl:Class GO:0090027 biolink:NamedThing negative regulation of monocyte chemotaxis Any process that decreases the frequency, rate, or extent of monocyte chemotaxis. tmpxe7fu0cj_hp_relaxed.owl tb 2009-08-03T10:19:40Z biological_process owl:Class GO:1990768 biolink:NamedThing gastric mucosal blood circulation The flow of blood through the gastric mucosa of an animal, enabling the transport of nutrients and the removal of waste products. tmpxe7fu0cj_hp_relaxed.owl stomach mucosal blood circulation sl 2015-06-10T20:11:09Z biological_process owl:Class GO:0008015 biolink:NamedThing blood circulation The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. tmpxe7fu0cj_hp_relaxed.owl hemolymph circulation GO:0070261 biological_process owl:Class HP:0000061 biolink:NamedThing Ambiguous genitalia, female Ambiguous genitalia in an individual with XX genetic gender. tmpxe7fu0cj_hp_relaxed.owl Atypical appearance of female genitals|Ambiguous genitalia due to virilization UMLS:C4025891|UMLS:C1859980 HP:0008690 human_phenotype owl:Class HP:0000055 biolink:NamedThing Abnormality of female external genitalia An abnormality of the female external genitalia. tmpxe7fu0cj_hp_relaxed.owl Abnormal female external genitalia UMLS:C4021822 human_phenotype owl:Class UBERON:0001230 biolink:NamedThing glomerular capsule A cup-like sac at the expanded beginning of a tubular component of a nephron that contains the glomerulus. tmpxe7fu0cj_hp_relaxed.owl renal glomerular capsule|Mueller capsule|Muellerian capsule|Bowman's capsule|pronephric glomerular capsule|Malphigian capsule|Bowmans capsule|capsula glomerularis|Malpighian capsule|capsula glomeruli TAO:0005310|EMAPA:27973|AAO:0010526|ZFA:0005254|KUPO:0001001|EMAPA:28257|BTO:0002297|TAO:0005254|UMLS:C0524448|NCIT:C32225|ZFA:0005310|FMA:15626|MA:0001660 http://upload.wikimedia.org/wikipedia/commons/3/30/Gray1130.svg uberon owl:Class Anatomical structure found in the kidney consisting of an expanded end of a kidney tubule surrounding a glomerulus and is the major site of filtration.[AAO] Fluids from blood in the glomerulus are collected in the Bowman's capsule and further processed along the nephron to form urine. This process is known as ultrafiltration[WP]. One fold of the S-shaped body gives rise to Bowman's capsule[GUDMAP] HP:0003987 biolink:NamedThing Fractured ulna tmpxe7fu0cj_hp_relaxed.owl MSH:D014458|SNOMEDCT_US:54556006|UMLS:C0041601 human_phenotype owl:Class HP:0003084 biolink:NamedThing Fractures of the long bones An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna). tmpxe7fu0cj_hp_relaxed.owl Increased long bone fracture rate UMLS:C0240231 HP:0005847 human_phenotype owl:Class HP:0005043 biolink:NamedThing Proximal humeral metaphyseal irregularity Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder). tmpxe7fu0cj_hp_relaxed.owl Irregular proximal humeral metaphyses UMLS:C1865128 human_phenotype owl:Class HP:0010407 biolink:NamedThing Curved middle phalanx of the 2nd toe A deviation from the normal straight form of the middle phalanx of the 2nd toe. tmpxe7fu0cj_hp_relaxed.owl Curved middle bone of 2nd toe UMLS:C4023848 doelkens 2009-07-16T12:43:52Z human_phenotype owl:Class UBERON:0003262 biolink:NamedThing amniotic mesoderm A mesenchyme that is part of a amnion. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of amnion|amnionic mesenchyme|amnionic mesoderm|amnion mesoderm|amnion mesenchyme EMAPA:16111|VHOG:0000622|EHDAA:140|EHDAA2:0000118|EMAPA:16265 we make the germ layer relationship develops_from, as currently the germ layers are declared to be purely embryonic. TODO - check. WP:Amnion - In the human embryo the earliest stages of the formation of the amnion have not been observed; in the youngest embryo which has been studied the amnion was already present as a closed sac, and appears in the inner cell-mass as a cavity. This cavity is roofed in by a single stratum of flattened, ectodermal cells, the amniotic ectoderm, and its floor consists of the prismatic ectoderm of the embryonic disk-the continuity between the roof and floor being established at the margin of the embryonic disk. Outside the amniotic ectoderm is a thin layer of mesoderm, which is continuous with that of the somatopleure and is connected by the body-stalk with the mesodermal lining of the chorion. UBERON:0003411 uberon owl:Class CHEBI:33485 biolink:NamedThing chalcogen oxoanion tmpxe7fu0cj_hp_relaxed.owl chalcogen oxoanion|chalcogen oxoanions chebi_ontology owl:Class CHEBI:33304 biolink:NamedThing chalcogen molecular entity Any p-block molecular entity containing a chalcogen. tmpxe7fu0cj_hp_relaxed.owl chalcogen molecular entities|chalcogen compounds|chalcogen molecular entity chebi_ontology owl:Class CL:0001022 biolink:NamedThing CD115-positive monocyte CD115-positive monocyte is a monocyte that is CD115-positive and CD11b-positive. tmpxe7fu0cj_hp_relaxed.owl These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000033)(PMID:19243617). cell owl:Class CL:0000576 biolink:NamedThing monocyte Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. tmpxe7fu0cj_hp_relaxed.owl BTO:0000876|FMA:62864|CALOHA:TS-0638 Morphology: Mononuclear cell, diameter, 14 to 20 _M, N/C ratio 2:1-1:1. Nucleus may appear in variety of shapes: round, kidney, lobulated, or convoluted. Fine azurophilic granules present; markers: CD11b (shared with other myeloid cells), human: CD14, mouse: F4/80-mid,GR1-low; location: Blood, but can be recruited into tissues; role or process: immune & tissue remodelling; lineage: hematopoietic, myeloid. cell owl:Class GO:0045935 biolink:NamedThing positive regulation of nucleobase-containing compound metabolic process Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpxe7fu0cj_hp_relaxed.owl positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|up regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|stimulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|activation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|up-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|upregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process biological_process owl:Class HsapDv:0000088 biolink:NamedThing human early adulthood stage Adult stage that refers to an adult who is under 45. tmpxe7fu0cj_hp_relaxed.owl 19-44 years human_developmental_stage 45.0 19.0 owl:Class HsapDv:0000000 biolink:NamedThing human life cycle stage A spatiotemporal region encompassing some part of the life cycle of an organism. tmpxe7fu0cj_hp_relaxed.owl stage|developmental stage UBERON:0000105 human_stages_ontology owl:Class HP:0006649 biolink:NamedThing Costochondral pain Chest wall pain in the area of the costochondral junctions. tmpxe7fu0cj_hp_relaxed.owl Costochondral junction pain UMLS:C4021587 Costochondral pain is in the differential diagnosis of chest pain, being a relatively benign cause compared to myocardial ischemia. Costochondral pain can be caused by costochondritis. human_phenotype owl:Class HP:0000919 biolink:NamedThing Abnormality of the costochondral junction Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. tmpxe7fu0cj_hp_relaxed.owl Costochondral juctions abnormal UMLS:C4021791 The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum. human_phenotype owl:Class HP:0025101 biolink:NamedThing Dysgenesis of the hippocampus Structural abnormality of the hippocampus related to defective development. tmpxe7fu0cj_hp_relaxed.owl Hippocampal dysgenesis 2016-10-28 07:15:06+00:00 Note that the term hippocampal dysgenesis is generally used to refer to a morphological abnormality of the hippocampus that is of presumed developmental (rather than acquired) origin. HPO:probinson owl:Class GO:0031947 biolink:NamedThing negative regulation of glucocorticoid biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:36818 biolink:NamedThing seco-cholestane tmpxe7fu0cj_hp_relaxed.owl seco-cholestanes chebi_ontology owl:Class CHEBI:35788 biolink:NamedThing seco-steroid tmpxe7fu0cj_hp_relaxed.owl seco-steroids chebi_ontology owl:Class UBERON:0011189 biolink:NamedThing lamina propria of large intestine A lamina propria that is part of a large intestine. tmpxe7fu0cj_hp_relaxed.owl lamina propria of mucosa of large intestine|large intestinal lamina propria|large intestine lamina propria NCIT:C49298|FMA:15654|UMLS:C1708644 uberon owl:Class HP:0032965 biolink:NamedThing Interstitial emphysema Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0002097 biolink:NamedThing Emphysema tmpxe7fu0cj_hp_relaxed.owl Pulmonary emphysema SNOMEDCT_US:87433001|UMLS:C0034067|MSH:D011656 HP:0006534 owl:Class CHEBI:26214 biolink:NamedThing porphyrins Natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. tmpxe7fu0cj_hp_relaxed.owl porphyrins Wikipedia:Porphyrin chebi_ontology owl:Class GO:0150032 biolink:NamedThing positive regulation of protein localization to lysosome Any process that activates or increases the frequency, rate or extent of protein localization to lysosome. tmpxe7fu0cj_hp_relaxed.owl bc 2018-02-06T17:11:02Z biological_process owl:Class HP:0004418 biolink:NamedThing Thrombophlebitis Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). tmpxe7fu0cj_hp_relaxed.owl MSH:D013924|SNOMEDCT_US:64156001|UMLS:C0040046 peter 2008-03-18T09:30:00Z human_phenotype owl:Class HP:0100684 biolink:NamedThing Salivary gland neoplasm A tumor (abnormal growth of tissue) of a salivary gland. tmpxe7fu0cj_hp_relaxed.owl Tumour of salivary gland|Salivary gland neoplasia|Cancer of salivary gland|Tumor of salivary gland SNOMEDCT_US:235132004|UMLS:C0036095|SNOMEDCT_US:255072001|NCIT:C3262|UMLS:C0220636|MSH:D012468 doelkens 2010-12-30T02:20:38Z human_phenotype owl:Class UBERON:0004296 biolink:NamedThing respiratory system lymphatic vessel smooth muscle A lymphatic vessel smooth muscle that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl smooth muscle of lymph vessel of respiratory system MA:0001826|EMAPA:37582 uberon owl:Class UBERON:0004232 biolink:NamedThing lymphatic vessel smooth muscle A portion of smooth muscle tissue that is part of a lymphatic vessel [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl smooth muscle of lymph vessel|lymph vessel involuntary muscle|smooth muscle of lymphatic vessel|smooth muscle tissue of lymphatic vessel|lymphatic vessel involuntary muscle|smooth muscle tissue of lymph vessel|lymph vessel smooth muscle tissue|involuntary muscle of lymphatic vessel|lymphatic vessel smooth muscle tissue|non-striated muscle of lymphatic vessel|involuntary muscle of lymph vessel|lymph vessel smooth muscle|lymphatic vessel non-striated muscle|non-striated muscle of lymph vessel|lymph vessel non-striated muscle UMLS:C1708791|EMAPA:36313|FMA:262026|NCIT:C49260|MA:0000751 uberon owl:Class PR:P05555 biolink:NamedThing integrin alpha-M (mouse) An integrin alpha-M that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl mITGAM|CD11 antigen-like family member B (mouse)|cell surface glycoprotein MAC-1 subunit alpha (mouse)|CR-3 alpha chain (mouse)|leukocyte adhesion receptor MO1 (mouse)|Itgam|CD11b (mouse) UniProtKB:P05555 Category=organism-gene. protein owl:Class PR:000001012 biolink:NamedThing integrin alpha-M An integrin alpha with A domain that is a translation product of the human ITGAM gene or a 1:1 ortholog thereof. They constitute subunits of the integrin alpha-M/beta-2 receptor. This receptor is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles. It is also a receptor for fibrinogen, factor X and ICAM1. tmpxe7fu0cj_hp_relaxed.owl CD11B|CD11 antigen-like family member B|cell surface glycoprotein MAC-1 subunit alpha|leukocyte adhesion receptor MO1|CR-3 alpha chain|ITGAM|CD11b|CR3A|neutrophil adherence receptor IUPHARobj:2452 Category=gene. Requested by=CL. protein owl:Class HP:0003106 biolink:NamedThing Subperiosteal bone resorption Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone. tmpxe7fu0cj_hp_relaxed.owl Subperiosteal erosions UMLS:C1848541 owl:Class GO:0010827 biolink:NamedThing regulation of glucose transmembrane transport Any process that modulates the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl regulation of glucose transport biological_process owl:Class GO:0006281 biolink:NamedThing DNA repair The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:DNA_repair biological_process owl:Class GO:0006259 biolink:NamedThing DNA metabolic process Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. tmpxe7fu0cj_hp_relaxed.owl cellular DNA metabolism|DNA metabolism GO:0055132 biological_process owl:Class UBERON:0007247 biolink:NamedThing nucleus of superior olivary complex Any of the nuclei that comprise the superior olivary complex (superior olive). This includes both the primary nuclei such as the lateral and medial nuclei, as well as periolivary nuclei. tmpxe7fu0cj_hp_relaxed.owl superior olivary complex nucleus FMA:72246|SCTID:369024009 this class exists largely for consistency with the FMA. It is defined trivially with respect to the SOC. The class may be removed in future. uberon owl:Class UBERON:0009662 biolink:NamedThing hindbrain nucleus Nucleus located within the hindbrain. tmpxe7fu0cj_hp_relaxed.owl ZFA:0001658|TAO:0002177 uberon owl:Class HP:0002860 biolink:NamedThing Squamous cell carcinoma The presence of squamous cell carcinoma of the skin. tmpxe7fu0cj_hp_relaxed.owl Squamous cell cancer MSH:D018307|SNOMEDCT_US:402815007|UMLS:C0751688|MSH:D002294|UMLS:C0007137|SNOMEDCT_US:28899001|NCIT:C2929 human_phenotype owl:Class UBERON:0004444 biolink:NamedThing proximal epiphysis of distal phalanx of manual digit 1 A proximal epiphysis that is part of a distal phalanx of manual digit 1 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal epiphysis of distal phalanx of manual digit I|proximal epiphysis of distal phalanx of thumb|base of distal phalanx of thumb FMA:37493 uberon owl:Class UBERON:0004417 biolink:NamedThing proximal epiphysis of phalanx of manual digit 1 A proximal epiphysis that is part of a manual digit 1 phalanx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of phalanx of first digit of hand|proximal epiphysis of phalanx of thumb|base of phalanx of thumb|proximal epiphysis of phalanx of manual digit I|basal epiphysis of phalanx of thumb|proximal epiphysis of phalanx of manual digit 1 FMA:37489 uberon owl:Class HP:0032988 biolink:NamedThing Persistent head lag The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes. tmpxe7fu0cj_hp_relaxed.owl Headlag|Head lag During pull-to-sit, the normal response is for an infant to right the head and maintain it in line with the shoulders. Head lag is demonstrated when the head is not righted but lags posteriorly behind the trunk as a result of poor head and neck control. peter owl:Class HP:0001270 biolink:NamedThing Motor delay A type of Developmental delay characterized by a delay in acquiring motor skills. tmpxe7fu0cj_hp_relaxed.owl Delayed motor development|Delayed early motor milestones|No development of motor milestones|Delay in motor development|Motor retardation|Delayed motor milestones|Motor developmental delay|Motor developmental milestones not achieved|Locomotor delay|Retarded motor development UMLS:C4020874|UMLS:C1854301 HP:0002130|HP:0001307|HP:0006909|HP:0006968|HP:0006788|HP:0006950|HP:0006826|HP:0007219|HP:0007251 human_phenotype owl:Class HP:0010071 biolink:NamedThing Osteolytic defects of the 1st metatarsal Dissolution or degeneration of bone tissue of the first metatarsal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024073 doelkens 2009-05-29T12:13:57Z human_phenotype owl:Class HP:0010062 biolink:NamedThing Osteolytic defects of the phalanges of the hallux tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024078 doelkens 2009-05-29T12:10:46Z owl:Class PATO:0001847 biolink:NamedThing constricted A structural quality inhering in a bearer by virtue of the bearer's being drawn together, compressed or squeezed physically. tmpxe7fu0cj_hp_relaxed.owl stricture|stenotic|stenosis PATO:0001837 quality owl:Class HP:0030811 biolink:NamedThing Tongue pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue. tmpxe7fu0cj_hp_relaxed.owl Painful tongue SNOMEDCT_US:30731004|UMLS:C0017672|MSH:D005926 owl:Class HP:0046506 biolink:NamedThing Pain in head and neck region tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0100522 biolink:NamedThing Thymoma A tumor originating from the epithelial cells of the thymus. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:128856005|NCIT:C3411|SNOMEDCT_US:444231005|UMLS:C0040100|MSH:D013945 Malignant lymphomas that involve the thymus, such as lymphoblastic lymphoma and Hodgkin lymphoma (erroneously termed "granulomatous thymoma" in the past), should not be regarded as thymomas. Thymoma is an uncommon tumor, best known for its association with the neuromuscular disorder myasthenia gravis. Thymoma is found in 15% of patients with myasthenia gravis. doelkens 2010-12-20T11:02:22Z human_phenotype owl:Class HP:0100521 biolink:NamedThing Neoplasm of the thymus A tumor (abnormal growth of tissue) of the thymus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3714644|NCIT:C3262|MSH:D013953|SNOMEDCT_US:127231009 doelkens 2010-12-20T11:02:03Z human_phenotype owl:Class HP:0001015 biolink:NamedThing Prominent superficial veins A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal. tmpxe7fu0cj_hp_relaxed.owl Marked subcutaneous veins|Prominent veins UMLS:C1837785 See Figure 4 of PMID:24456199 owl:Class HP:0002624 biolink:NamedThing Abnormal venous morphology An anomaly of vein. tmpxe7fu0cj_hp_relaxed.owl Abnormal vein|Venous abnormality UMLS:C0241665 human_phenotype owl:Class UBERON:0011922 biolink:NamedThing cochlear basement membrane The the continuous basement membrane found within the membranous labyrinth of the cochlea, known to extend from the limbus, down to the inner sulcus, across the basilar membrane, up to the external sulcus to the spiral prominence and radiating into the spiral ligament ensheathing the root cell processes. tmpxe7fu0cj_hp_relaxed.owl basement membrane of cochlear labyrinth|cochlea basement membrane EMAPA:37830 uberon owl:Class HP:0032314 biolink:NamedThing Abnormal areolar morphology An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 11:26:26+00:00 peter owl:Class HP:0031093 biolink:NamedThing Abnormal breast morphology Any anomaly of the structure of the breast. tmpxe7fu0cj_hp_relaxed.owl 2017-06-30 15:41:38+00:00 robinp owl:Class HP:0009976 biolink:NamedThing Duplication of the middle phalanx of the 4th finger Partial or complete duplication of the middle phalanx of ring finger. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the middle phalanx of the 4th finger|Partial/complete duplication of the middle bone of the ring finger UMLS:C4021357 doelkens 2009-05-26T02:20:08Z human_phenotype owl:Class HP:0009283 biolink:NamedThing Abnormality of the middle phalanx of the 4th finger tmpxe7fu0cj_hp_relaxed.owl Abnormality of the middle phalanx of the ring finger|Abnormal middle bone of ring finger UMLS:C4021501 doelkens 2009-01-07T04:42:40Z HP:0004204 human_phenotype owl:Class HP:0011131 biolink:NamedThing Perianal dermatitis The presence of a rash (change of color and texture) of the perianal skin. tmpxe7fu0cj_hp_relaxed.owl Perianal rash UMLS:C0240705 peter 2011-06-19T12:16:41Z owl:Class GO:1903778 biolink:NamedThing protein localization to vacuolar membrane A process in which a protein is transported to, or maintained in, a location within a vacuolar membrane. tmpxe7fu0cj_hp_relaxed.owl protein localization in vacuolar membrane|protein localisation in vacuolar membrane|protein localisation to vacuolar membrane mah 2015-01-07T13:15:54Z biological_process owl:Class CL:0000219 biolink:NamedThing motile cell A cell that moves by its own activities. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class GO:1904989 biolink:NamedThing positive regulation of endothelial cell activation Any process that activates or increases the frequency, rate or extent of endothelial cell activation. tmpxe7fu0cj_hp_relaxed.owl upregulation of endothelial cell activation|up-regulation of endothelial cell activation|up regulation of endothelial cell activation|activation of endothelial cell activation bc 2016-02-29T16:16:25Z biological_process owl:Class CHEBI:88071 biolink:NamedThing monosialodiglycosylceramide(1-) An anionic ganglioside in which the oligosaccharide portion is composed of a disaccharide, to which one sialic acid residue is attached. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:79346 biolink:NamedThing anionic ganglioside Any carbohydrate acid derivative anion obtained by deprotonation of at least one of the neuraminosyl carboxy groups of a ganglioside. tmpxe7fu0cj_hp_relaxed.owl ganglioside anion chebi_ontology owl:Class HP:0010035 biolink:NamedThing Aplasia of the 1st metacarpal Absent first metacarpal (long bone) of the hand. tmpxe7fu0cj_hp_relaxed.owl Absent 1st long bone of hand|Absent first metacarpal UMLS:C1838610 In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. doelkens 2009-05-27T04:25:14Z HP:0006027 human_phenotype owl:Class HP:0010242 biolink:NamedThing Aplasia of the proximal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Absent innermost bones|Absent proximal phalanges UMLS:C4021302 doelkens 2009-07-06T04:01:02Z HP:0006102 human_phenotype owl:Class UBERON:0010341 biolink:NamedThing 1st arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 1st arch mesenchyme. tmpxe7fu0cj_hp_relaxed.owl mesenchyme derived from head mesoderm of mesenchyme of 1st arch EMAPA:16130 uberon owl:Class UBERON:0010844 biolink:NamedThing clavicle pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a clavicle. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18026 uberon owl:Class In most birds and mammals the clavicles are the only dermal elements in the trunk, and is the only membrane bone associated with the pectoral girdle in these taxa. However, there can be secondary cartilage, or subsequent endochondral ossification, or fusion with endochondral elements. In rodents, the lateral ends of the clavicle are endochondral but the main portion is dermal. UBERON:0014848 biolink:NamedThing tendon of quadriceps femoris tmpxe7fu0cj_hp_relaxed.owl common tendon of quadriceps femoris|common quadriceps femoris tendon|quadriceps tendon|common quadriceps tendon|common tendon of quadriceps femoris muscle complex|quadriceps femoris tendon FMA:46900 uberon owl:Class UBERON:0000043 biolink:NamedThing tendon Dense regular connective tissue that connects muscle to bone[VSAO]. tmpxe7fu0cj_hp_relaxed.owl sinew|tendo galen:Tendon|FMA:9721|EHDAA2:0003091|EMAPA:35854|CALOHA:TS-1021|EV:0100149|OpenCyc:Mx4rvVjefJwpEbGdrcN5Y29ycA|NCIT:C13045|VHOG:0001286|SCTID:256667004|BTO:0001356|Wikipedia:Tendon|AEO:0000091|MESH:D013710|GAID:276|MA:0000115|UMLS:C0039508|ZFA:0005647|VSAO:0000073|XAO:0000173 http://upload.wikimedia.org/wikipedia/commons/3/3c/Achilles-tendon.jpg uberon owl:Class Dense regular connective tissue that connects muscle to bone.[VSAO] Phylogenetically, tendinous tissue first appears in the invertebrate chordate Branchiostoma as myosepta. This two-dimensional array of collagen fibers is highly organized, with fibers running along two primary axes. In hagfish the first linear tendons appear and the myosepta have developed specialized regions with unidirectional fiber orientation - a linear tendon within the flat sheet of myoseptum.[well established][VHOG] in FMA, tendon is an organ component that with parts dense-irregular-connective-tissue of tendon and dense-irregular-connective-tissue of tendon sheath; we follow VSAO in making it a subtype of the former. In VSAO tendons connect muscle to bone; in WP the def states integument (e.g. auricular muscles) - but JB confirms this is not actually tendon but aponeurosis UBERON:0000964 biolink:NamedThing cornea The transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure. tmpxe7fu0cj_hp_relaxed.owl corneas|tunica cornea|cornea of camera-type eye BTO:0000286|FMA:58238|MA:0000266|VHOG:0000164|OpenCyc:Mx4rvViBa5wpEbGdrcN5Y29ycA|EV:0100341|EHDAA2:0000316|TAO:0000640|UMLS:C0010031|XAO:0000180|Wikipedia:Cornea|ZFA:0000640|GAID:892|EHDAA:10199|CALOHA:TS-0171|EFO:0000377|NCIT:C12342|EMAPA:17161|MESH:D003315|AAO:0010344|SCTID:181162001 http://upload.wikimedia.org/wikipedia/commons/1/1e/Schematic_diagram_of_the_human_eye_en.svg uberon owl:Class corneal Compared to terrestial animals, the cornea of zebrafish is relatively flat. It consists of nonpigmented, stratified squamous nonkeratinizing epithelial cells, attached to a thick basement membrane that is considered to be analogous to the Bowman's membrane in mammals. In fish, and aquatic vertebrates in general, the cornea plays no role in focusing light, since it has virtually the same refractive index as water UBERON:0003102 biolink:NamedThing surface structure Anatomical structure that overlaps the outer epithelial layer and is adjacent to the space surrounding the organism. tmpxe7fu0cj_hp_relaxed.owl surface feature|surface region|anatomical surface feature|surface structures ZFA:0000292|EHDAA2_RETIRED:0003010|TAO:0000292|galen:SurfaceRegion|VSAO:0000001|AEO_RETIRED:0000010|Wikipedia:Surface_structure|AAO:0010337|XAO:0003028 consider obsoleting. See issue/1305 uberon owl:Class Organism subdivision which is the collection of anatomical structures on the body surface.[ZFA] GO:0009821 biolink:NamedThing alkaloid biosynthetic process The chemical reactions and pathways resulting in the formation of alkaloids, nitrogen-containing natural products which are not otherwise classified as nonprotein amino acids, amines, peptides, amines, cyanogenic glycosides, glucosinolates, cofactors, phytohormones, or primary metabolite (such as purine or pyrimidine bases). tmpxe7fu0cj_hp_relaxed.owl alkaloid anabolism|alkaloid synthesis|alkaloid formation|alkaloid biosynthesis UM-BBD_enzymeID:e0711 biological_process owl:Class GO:0032943 biolink:NamedThing mononuclear cell proliferation The expansion of a mononuclear cell population by cell division. A mononuclear cell is a leukocyte with a single non-segmented nucleus in the mature form. tmpxe7fu0cj_hp_relaxed.owl PBMC proliferation|peripheral blood mononuclear cell proliferation biological_process owl:Class HP:0030185 biolink:NamedThing Isometric tremor An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist). tmpxe7fu0cj_hp_relaxed.owl Dystonia tremor UMLS:C4022594|UMLS:C4280303 owl:Class HP:0002345 biolink:NamedThing Action tremor A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. tmpxe7fu0cj_hp_relaxed.owl Ataxic tremor MSH:D014202|SNOMEDCT_US:30721006|UMLS:C0234376|UMLS:C4020853 Action tremor occurs with voluntary contraction of muscle. Subforms of action tremor include postural, isometric, and kinetic tremors human_phenotype owl:Class HP:0004971 biolink:NamedThing Pulmonary artery hypoplasia Underdevelopment of the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped pulmonary artery|Underdeveloped lung artery SNOMEDCT_US:54682008|UMLS:C0265910|Fyler:2966 human_phenotype owl:Class HP:0030966 biolink:NamedThing Abnormal pulmonary artery morphology An abnormality of the structure of the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl 2017-04-18 13:29:12+00:00 robinp owl:Class UBERON:0001075 biolink:NamedThing bony vertebral centrum Ossified form of a vertebral centrum, a skeletal element that functionally replaces the notochord[VSAP,modified]. tmpxe7fu0cj_hp_relaxed.owl vertebral centra|autocentrum|corpus vertebra|centra|corpus vertebrae|vertebral centrum|arcocentrum|holocentrum|vertebral body|corpus vertebrae (vertebrale)|body of vertebra OpenCyc:Mx4rvXU4VpwpEbGdrcN5Y29ycA|EMAPA:36588|TAO:0000126|AAO:0000697|MA:0001457|UMLS:C0223084|FMA:11945|NCIT:C12852|ZFA:0000126 http://upload.wikimedia.org/wikipedia/commons/6/63/Corpusvertebrae.png uberon owl:Class The body is the largest part of a vertebra, and is more or less cylindrical in shape. Its upper and lower surfaces are flattened and rough, and give attachment to the intervertebral fibrocartilages, and each presents a rim around its circumference. In front, the body is convex from side to side and concave from above downward. Behind, it is flat from above downward and slightly concave from side to side. Its anterior surface presents a few small apertures, for the passage of nutrient vessels. On the posterior surface is a single large, irregular aperture, or occasionally more than one, for the exit of the basi-vertebral veins from the body of the vertebra. [WP,unvetted][Wikipedia:Body_of_vertebra].|Centra are represented by mineralized, calcified, or ossified portions that surround the notochord. The autocentrum, present in Danio and all other living teleosts, is formed by direct ossification outside the elastica externa of the notochord (Arratia, 1999).[TAO]|Cylindrical body of bone, round or oval in cross section, which functionally replaces the notochord.[AAO] The vertebral centrum may be cartilaginous, develop as cartilage but be replaced by bone or mineralized, or form directly through intramembranous ossification.[VSAO] VSAO definition states it surrounds notochord but not applicable to post-natal. UBERON:0016491 biolink:NamedThing vertebral centrum element Skeletal element that functionally replaces the notochord[VSAP,modified]. tmpxe7fu0cj_hp_relaxed.owl centrum of vertebra|centrum VSAO:0000183 uberon owl:Class the main cylindrical portion of the vertebra ventral to the vertebral canal|Skeletal element that surrounds the notochord.[VSAO] The vertebral centrum may be cartilaginous, develop as cartilage but be replaced by bone or mineralized, or form directly through intramembranous ossification. GO:0035767 biolink:NamedThing endothelial cell chemotaxis The directed movement of an endothelial cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). tmpxe7fu0cj_hp_relaxed.owl bf 2011-03-31T04:31:37Z biological_process owl:Class GO:0060326 biolink:NamedThing cell chemotaxis The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0000573 biolink:NamedThing Retinal hemorrhage Hemorrhage occurring within the retina. tmpxe7fu0cj_hp_relaxed.owl Retinal haemorrhages|Retinal bleeding|Retinal haemorrhage|Retinal hemorrhages UMLS:C0035317|MSH:D012166|SNOMEDCT_US:28998008 The type of retinal hemorrhage and its clinical appearance depends on its location within the retina. human_phenotype owl:Class HP:0011885 biolink:NamedThing Hemorrhage of the eye Bleeding from vessels of the various tissues of the eye. tmpxe7fu0cj_hp_relaxed.owl Bleeding from the eye|Haemorrhage of the eye SNOMEDCT_US:417244000|UMLS:C0015402|MSH:D005130|SNOMEDCT_US:93478000 peter 2012-06-02T10:44:39Z human_phenotype owl:Class CL:1000426 biolink:NamedThing chromaffin cell of adrenal gland A chromaffin cell that is part of the adrenal gland. tmpxe7fu0cj_hp_relaxed.owl adrenal chromaffin cell FMA:69794 cell owl:Class CL:0000166 biolink:NamedThing chromaffin cell A cell that stores epinephrine secretory vesicles. During times of stress, the nervous system signals the vesicles to secrete their hormonal content. Their name derives from their ability to stain a brownish color with chromic salts. Characteristically, they are located in the adrenal medulla and paraganglia of the sympathetic nervous system. tmpxe7fu0cj_hp_relaxed.owl phaeochromocyte BTO:0000259|FMA:69263 cell owl:Class UBERON:0036422 biolink:NamedThing wall of pulmonary artery tmpxe7fu0cj_hp_relaxed.owl pulmonary arterial wall FMA:18211 uberon owl:Class HP:0032845 biolink:NamedThing Focal aware epileptic spasm A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0002263 biolink:NamedThing Exaggerated cupid's bow More pronounced paramedian peaks and median notch of the Cupid's bow. tmpxe7fu0cj_hp_relaxed.owl Exaggerated cupid's bow|Prominent cupid-bow of upper lip|Cupid bow upper lip|Cupid-bow shaped upper lip|Cupid's bow, accentuated UMLS:C1850629 This may be associated with a Deep philtrum, but that finding should be coded separately. human_phenotype owl:Class HP:0011339 biolink:NamedThing Abnormality of upper lip vermillion An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the red part of the upper lip|Anomaly of the upper lip vermillion|Malformation of the upper lip vermillion|Deformity of the upper lip vermillion UMLS:C4023406 peter 2012-02-26T01:32:28Z human_phenotype owl:Class HP:0003026 biolink:NamedThing Short long bone One or more abnormally short long bone. tmpxe7fu0cj_hp_relaxed.owl Short tubular bones|Short long bone|Long bone shortening|shortened long tubular bones UMLS:C1854912 Long bones are also known as tubular bones. HP:0005822|HP:0005077|HP:0005000|HP:0005083|HP:0004988|HP:0006382|HP:0005052|HP:0005029|HP:0004983|HP:0005044|HP:0000949|HP:0006472|HP:0006457|HP:0005647 human_phenotype owl:Class UBERON:0005442 biolink:NamedThing abdominal external oblique muscle The lateral abdominal wall muscle that is the most superficial, immediately superficial to the internal oblique. tmpxe7fu0cj_hp_relaxed.owl external abdominal oblique|obliquus externus|external oblique|m. obliquus externus abdominis|external oblique abdominal muscles|external oblique abdominis|external abdominal oblique muscle|abdominal external oblique muscle|obliquus abdominis externus|obliquus externus abdominis|obliquus externus abdominis muscle|external oblique abdominis muscle|external oblique muscle|oblique strength VHOG:0000788|MA:0002345|EHDAA2:0000469|EMAPA:18162|UMLS:C0224375|NCIT:C32567|FMA:13335|EHDAA:8248 http://upload.wikimedia.org/wikipedia/commons/3/32/Illu_trunk_muscles.jpg uberon owl:Class Behind the thorax, the lateral group (of muscles in reptiles and mammals) remains essentially as for amphibians. (It breaks into three sheet-like layers: external oblique muscle, the internal oblique, and the transversus). More anteriorly, however, the ribs, now enlarged, penetrate and alter this group of muscles. The transversus is excluded from the thorax and the external and internal obliques become, respectively, the external and internal intercostal muscles, which contribute to the new function of ventilation of the lungs.[well established][VHOG] UBERON:0035032 biolink:NamedThing abdominal oblique muscle Either the external or internal abdominal oblique muscles. tmpxe7fu0cj_hp_relaxed.owl oblique abdominal muscle EMAPA:35603|MA:0003024 uberon owl:Class HP:0001696 biolink:NamedThing Situs inversus totalis A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs. tmpxe7fu0cj_hp_relaxed.owl situs oppositus|situs transversus|All organs on wrong side of body|Situs inversus Fyler:100|SNOMEDCT_US:14821001|SNOMEDCT_US:43876007|SNOMEDCT_US:24614000|MSH:D012857|Fyler:0100|MSH:D059446|UMLS:C0266642|SNOMEDCT_US:27317008|UMLS:C0037221 owl:Class HP:0011534 biolink:NamedThing Abnormal spatial orientation of the cardiac segments Abnormality of the spatial relationship of the cardiac segments to other components of the heart. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023313 peter 2012-04-07T10:27:48Z owl:Class HP:0003218 biolink:NamedThing Oroticaciduria An increased concentration of orotic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Orotic aciduria|High urine orotic acid levels|Increased urinary orotic acid concentration SNOMEDCT_US:47641009|UMLS:C0268128|SNOMEDCT_US:124277009 Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis. HP:0010928|HP:0000810 human_phenotype owl:Class UBERON:0010367 biolink:NamedThing conjunctival vein A vein that is part of a conjunctiva. tmpxe7fu0cj_hp_relaxed.owl conjunctival blood vessel FMA:70887 uberon owl:Class HP:0011890 biolink:NamedThing Prolonged bleeding following procedure Prolonged or protracted bleeding following an invasive procedure or intervention. tmpxe7fu0cj_hp_relaxed.owl Prolonged bleeding following procedure UMLS:C4023142 peter 2012-06-02T11:33:38Z human_phenotype owl:Class UBERON:0022236 biolink:NamedThing peduncle of thalamus tmpxe7fu0cj_hp_relaxed.owl thalamic peduncle MBA:365 uberon owl:Class UBERON:0022235 biolink:NamedThing peduncle of diencephalon tmpxe7fu0cj_hp_relaxed.owl diencephalon peduncle FMA:62444 uberon owl:Class GO:0045980 biolink:NamedThing negative regulation of nucleotide metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. tmpxe7fu0cj_hp_relaxed.owl downregulation of nucleotide metabolic process|inhibition of nucleotide metabolic process|down-regulation of nucleotide metabolic process|down regulation of nucleotide metabolic process|negative regulation of nucleotide metabolism biological_process owl:Class UBERON:0004212 biolink:NamedThing glomerular capillary The small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus. tmpxe7fu0cj_hp_relaxed.owl renal glomerulus blood capillary|blood capillary of renal glomerulus|renal glomerulus capillary vessel|capillary of renal glomerulus|renal glomerulus capillary|glomerular capillary system|glomerular capillaries|capillary vessel of renal glomerulus EMAPA:28245|NCIT:C32684|ZFA:0005284|MA:0002587|TAO:0005284|FMA:274259|UMLS:C0226356 uberon owl:Class Capillary that is part of the renal glomerulus. Glomerular capillary endothelial membranes in zebrafish normally have a fenestrated morphology that is visible at the ultrastructural level.[TAO] UBERON:0004544 biolink:NamedThing epididymis epithelium The layer of secretory cells which lines the epididymis. tmpxe7fu0cj_hp_relaxed.owl epididymis epithelium|epithelium of epididymis MA:0002825|CALOHA:TS-2063|BTO:0005768|EMAPA:30445|FMA:19153 uberon owl:Class UBERON:0005400 biolink:NamedThing telencephalon arachnoid mater An arachnoid mater that is part of a telencephalon. tmpxe7fu0cj_hp_relaxed.owl telencephalon arachnoid matter MA:0000980|EMAPA:17775 uberon owl:Class CHEBI:27584 biolink:NamedThing aldosterone A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. tmpxe7fu0cj_hp_relaxed.owl (+)-aldosterone|aldosterone|(11beta)-11,21-dihydroxy-3,20-dioxopregn-4-en-18-al|ALDOSTERONE|Aldosterone|11beta,21-dihydroxy-3,20-dioxopregn-4-en-18-al|11beta,21-Dihydroxy-3,20-dioxo-4-pregnen-18-al 0 C21H28O5 InChI=1S/C21H28O5/c1-20-7-6-13(24)8-12(20)2-3-14-15-4-5-16(18(26)10-22)21(15,11-23)9-17(25)19(14)20/h8,11,14-17,19,22,25H,2-7,9-10H2,1H3/t14-,15-,16+,17-,19+,20-,21+/m0/s1 PQSUYGKTWSAVDQ-ZVIOFETBSA-N 360.44400 360.19367 [H][C@@]1(CC[C@@]2([H])[C@]3([H])CCC4=CC(=O)CC[C@]4(C)[C@@]3([H])[C@@H](O)C[C@]12C=O)C(=O)CO KEGG:C01780|LINCS:LSM-42770|Drug_Central:111|CAS:52-39-1|HMDB:HMDB0000037|LIPID_MAPS_instance:LMST02030026|DrugBank:DB04630|Wikipedia:Aldosterone|Beilstein:3224996|PDBeChem:AS4|Reaxys:3224996|PMID:10438974 CHEBI:40919|CHEBI:2563|CHEBI:22306 chebi_ontology owl:Class HP:0031813 biolink:NamedThing Colonic eosinophilia An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon. tmpxe7fu0cj_hp_relaxed.owl Eosinophilic colitis|Eosinophilic infiltration in the colon 2018-04-28 21:07:47+00:00 peter owl:Class HP:0002037 biolink:NamedThing Inflammation of the large intestine Inflammation, or an inflammatory state in the large intestine. tmpxe7fu0cj_hp_relaxed.owl Inflammatory bowel disease|Inflammation of the large intestine SNOMEDCT_US:24526004|UMLS:C0021390|SNOMEDCT_US:302168000|UMLS:C0578878|MSH:D015212 owl:Class HP:0003856 biolink:NamedThing Upper limb metaphyseal widening Increased width (breadth) of metaphyses of the arms. tmpxe7fu0cj_hp_relaxed.owl Broad wide portion of upper limb bone|Wide/broad metaphyses of the upper limbs UMLS:C4021719 human_phenotype owl:Class HP:0012462 biolink:NamedThing Chin myoclonus Involuntary and irregular twitches of the chin. tmpxe7fu0cj_hp_relaxed.owl Chin spasms|Geniospasm UMLS:C1860972|MSH:C537682 peter 2013-11-24T12:26:38Z human_phenotype owl:Class HP:0012641 biolink:NamedThing Decreased intracranial pressure A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Intracranial hypotension SNOMEDCT_US:277657001|UMLS:C0456892|SNOMEDCT_US:167714004 peter 2014-01-19T08:15:01Z human_phenotype owl:Class HP:0012640 biolink:NamedThing Abnormality of intracranial pressure A deviation from the norm of the intracranial pressure. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022809 Intracranial pressure (i.e., the pressure inside the skull) represents the pressue in the brain tissue and in the cerebrospinal fluid (CSF). Deviations from normal are generally identified by measuring the pressure of the CSF. peter 2014-01-19T08:06:51Z owl:Class HP:0010429 biolink:NamedThing Complete duplication of the phalanges of the 2nd toe Complete duplication of a phalanx of second toe. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the 2nd toe bones UMLS:C4023830 doelkens 2009-07-16T04:07:33Z human_phenotype owl:Class GO:0030323 biolink:NamedThing respiratory tube development The process whose specific outcome is the progression of the respiratory tube over time, from its formation to the mature structure. The respiratory tube is assumed to mean any tube in the respiratory tract. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0035295 biolink:NamedThing tube development The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0011279 biolink:NamedThing nail of pedal digit 2 A nail that is part of a pedal digit 2. tmpxe7fu0cj_hp_relaxed.owl nail plate of second toe|claw of digit 2 of hind-paw|second toe nail|nail of pedal digit II|nail of second toe FMA:54347|EMAPA:18740 uberon owl:Class GO:0000821 biolink:NamedThing regulation of arginine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving arginine, 2-amino-5-(carbamimidamido)pentanoic acid. tmpxe7fu0cj_hp_relaxed.owl regulation of arginine metabolism biological_process owl:Class HP:0033216 biolink:NamedThing Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. tmpxe7fu0cj_hp_relaxed.owl 2020-10-24 11:31:00+00:00 Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. peter owl:Class HP:0033215 biolink:NamedThing Obliterative abnormality of the renal glomerulus tmpxe7fu0cj_hp_relaxed.owl 2020-10-24 11:27:37+00:00 Blockage (obliteration) of the capillary lumen by increased extracellular collagenous matrix, with or without hyalinosis or foam cells. peter owl:Class HP:0007473 biolink:NamedThing Crusting erythematous dermatitis tmpxe7fu0cj_hp_relaxed.owl UMLS:C1868496 human_phenotype owl:Class HP:0011123 biolink:NamedThing Inflammatory abnormality of the skin The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. tmpxe7fu0cj_hp_relaxed.owl Skin inflammation|Inflammatory abnormality of the skin|Abnormal tendency to infections of the skin|Dermatitis|Inflammatory skin disease MSH:D003872|UMLS:C0011603|SNOMEDCT_US:703938007|MP:0004947|UMLS:C3875321 peter 2011-06-12T10:06:04Z HP:0002727|HP:0007423 owl:Class GO:1900130 biolink:NamedThing regulation of lipid binding Any process that modulates the frequency, rate or extent of lipid binding. tmpxe7fu0cj_hp_relaxed.owl pm 2012-02-23T04:05:03Z biological_process owl:Class UBERON:0010347 biolink:NamedThing 6th arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 6th arch mesenchyme. tmpxe7fu0cj_hp_relaxed.owl pharyngeal arch 6 mesenchyme from head mesenchyme|branchial arch 6 mesenchyme from head mesenchyme|head mesenchyme derived arch 6 mesenchyme EHDAA2:0004078 uberon owl:Class HP:0031098 biolink:NamedThing Decreased thyroid-stimulating hormone level Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Decreased thyrotropin level|Decreased plasma TSH 2017-05-30 02:13:11+00:00 peter owl:Class HP:0031097 biolink:NamedThing Abnormal thyroid-stimulating hormone level Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Abnormal TSH level|Abnormal circulating thyrotropin concentration|Abnormal thyrotropin level 2017-05-30 02:12:45+00:00 peter owl:Class HP:0032398 biolink:NamedThing Dysgyria An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 17:04:20+00:00 Dysgyria translates as abnormal gyration and can therefore be applied to almost every type of MCD (malformations of cortical development). However, this term was introduced to describe cortical malformations that do not meet classic features of any of the abovementioned well-established MCD types. Dysgyria describes a cortex of variable thickness and an abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation (for example, obliquely oriented sulci directed radially towards the centre of the cerebrum and narrow gyri separated by abnormally deep or shallow sulci). In the vast majority of cases, the term dysgyria describes an abnormal non-lissencephaly, non-polymicrogyria cortex within the spectrum of tubulinopathies. peter owl:Class HP:0002269 biolink:NamedThing Abnormality of neuronal migration An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. tmpxe7fu0cj_hp_relaxed.owl Heterotopias/abnormal migration|Neuronal migration disorder|Migrational brain disorder|Abnormal neuronal migration UMLS:C1837249|MSH:D054081 HP:0007317 owl:Class HP:0011632 biolink:NamedThing Partial right sided absence of pericardium A congenital anomaly with lack of part of the pericardium on the righthand side of the heart. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023257 A congenital anomaly and not the result of a pericardectomy. peter 2012-04-08T10:09:24Z human_phenotype owl:Class HP:0040101 biolink:NamedThing Cutaneous atresia of the external auditory canal tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022440 HPO:skoehler owl:Class HP:0000413 biolink:NamedThing Atresia of the external auditory canal Absence or failure to form of the external auditory canal. tmpxe7fu0cj_hp_relaxed.owl Atretic auditory canals|Atretic auditory canal|Atresia of the external auditory canals|Atretic external auditory canals|Absent external auditory canals|External auditory canal atresia|Absent ear canal|Absent auditory canals|Atretic external auditory canal|External acoustic meatus atresia|Auditory canal atresia|External auditory meatal atresia|External auditory meatus atresia UMLS:C1866190|UMLS:C1840305|UMLS:C1398325|UMLS:C1857079 HP:0008626|HP:0008547|HP:0008564 human_phenotype owl:Class HP:0100092 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the middle bone of the 3rd toe UMLS:C4022329 doelkens 2010-06-24T10:02:07Z human_phenotype owl:Class HP:0033193 biolink:NamedThing Ballooning hepatocyte degeneration Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62. tmpxe7fu0cj_hp_relaxed.owl Ballooning degeneration of hepatocytes 2020-10-10 15:47:08+00:00 Mallory-Denk bodies are inclusions found within the cytoplasm of ballooned hepatocytes that are composed of cytokeratin filaments, they have a twisted-rope appearance. peter owl:Class HP:0030146 biolink:NamedThing Abnormal liver parenchyma morphology A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022605 owl:Class HP:0030507 biolink:NamedThing Retinal crystals Crystalline deposits in the retina. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072992 Crystalline deposits in the retina may be associated with a wide variety of systemic disorders such as oxalosis, cystinosis, hyperornithinaemia and Sjogren-Larsson syndrome. Refractile crystalline deposits may also be a manifestation of drug toxicity like the antineoplastic agent tamoxifen, the anesthetic methoxyflurane and the oral tanning agent canthaxanthine. Crystals may also occur in drug abusers who inject multiple crushed tablets of methadone or meperidine intravenously (talc retinopathy). owl:Class HP:0030506 biolink:NamedThing Yellow/white lesions of the retina tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072991 owl:Class HP:0009671 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the thumb A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024246 doelkens 2009-01-30T09:17:13Z human_phenotype owl:Class HP:0010264 biolink:NamedThing Pseudoepiphyses of the middle phalanges of the hand A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023937 doelkens 2009-07-06T04:24:15Z human_phenotype owl:Class HP:0033951 biolink:NamedThing Cortical radial artery intraluminal organized thrombi Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney. tmpxe7fu0cj_hp_relaxed.owl Organized thrombi within interlobular arterial lumen 2021-06-24 12:19:35+00:00 peter owl:Class HP:0033950 biolink:NamedThing Cortical radial artery intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney. tmpxe7fu0cj_hp_relaxed.owl Intraluminal thrombi within interlobular arterial lumen 2021-06-24 12:18:01+00:00 peter owl:Class GO:0015031 biolink:NamedThing protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl enzyme transport GO:0015831 biological_process owl:Class GO:0010558 biolink:NamedThing negative regulation of macromolecule biosynthetic process Any process that decreases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0041119 biolink:NamedThing Fractured metacarpus skeleton A partial or complete breakage of the metacarpus skeleton. tmpxe7fu0cj_hp_relaxed.owl bone metacarpus skeleton owl:Class CHEBI:30660 biolink:NamedThing thyroxine An iodothyronine compound having iodo substituents at the 3-, 3'-, 5- and 5'-positions. tmpxe7fu0cj_hp_relaxed.owl thyroxine|O-(4-Hydroxy-3,5-diiodophenyl)-3,5-diiodo-DL-tyrosine|DL-Thyroxine|Thx|2-amino-3-[4-(4-hydroxy-3,5-diiodophenoxy)-3,5-diiodophenyl]propanoic acid 0 C15H11I4NO4 InChI=1S/C15H11I4NO4/c16-8-4-7(5-9(17)13(8)21)24-14-10(18)1-6(2-11(14)19)3-12(20)15(22)23/h1-2,4-5,12,21H,3,20H2,(H,22,23) XUIIKFGFIJCVMT-UHFFFAOYSA-N 776.87006 776.68669 NC(Cc1cc(I)c(Oc2cc(I)c(O)c(I)c2)c(I)c1)C(O)=O PMID:15206581|Beilstein:2228514|PMID:24375501|CAS:300-30-1|PMID:9824273 chebi_ontology owl:Class CHEBI:53291 biolink:NamedThing 2-halophenol A halophenol in which the halogen atom is bonded to the carbon atom adjacent to the C-OH group. tmpxe7fu0cj_hp_relaxed.owl 2-halophenols 0 C6H5OX 93.10330 93.03404 Oc1ccccc1* chebi_ontology owl:Class GO:0061304 biolink:NamedThing retinal blood vessel morphogenesis The process whose specific outcome is the progression of a blood vessel of the retina over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl dph 2010-09-16T09:02:59Z biological_process owl:Class UBERON:0002102 biolink:NamedThing forelimb A (free) limb that is connected to a pectoral girdle. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pectoral girdle and its parts. tmpxe7fu0cj_hp_relaxed.owl fore limb|free upper limb|pectoral flipper|free part of upper limb|forelimb|upper extremity|upper limb|foreleg|membrum superius|anteriormost limb|superior member|pectoral limb NCIT:C12671|galen:UpperExtremity|UMLS:C1140618|GAID:51|EHDAA:6208|CALOHA:TS-2214|GAID:1215|EMAPA:17412|MIAA:0000394|MAT:0000394|VHOG:0000338|EHDAA2:0002133|MESH:D005552|EFO:0000882|MA:0000025|BTO:0001729|FMA:24878|AAO:0000205|VSAO:0000148|XAO:0003030|EV:0100014 Note distinction between arm and forelimb. hand is part of forelimb, but not part of arm uberon owl:Class Upper limb, which connects the manus with the pectoral girdle.[AAO] note that this corresponds to FMA:'free upper limb' (a limb segment), NOT FMA:'upper limb'. Both MA and FMA consider shoulder (and shoulder bones) part of upper limb UBERON:0002101 biolink:NamedThing limb A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts. tmpxe7fu0cj_hp_relaxed.owl tetrapod limb|flipper|extremities|pentadactyl limb|limb sensu Vertebrata|free limb|extremity AAO:0010336|GAID:36|EHDAA2:0003172|VHOG:0000336|VSAO:0000121|NCIT:C12429|UMLS:C0015385|EHDAA:8273|XAO:0003027|OpenCyc:Mx4rvn1uSZwpEbGdrcN5Y29ycA|FMA:24875|CALOHA:TS-0552|EFO:0000876|EHDAA:1697|EMAPA:16405|MAT:0000090|MIAA:0000090|MA:0000007|AEO:0000172|galen:Extremity uberon owl:Class Organism subdivision that has as its parts the jointed appendages used for locomotion and manipulation.[AAO] Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] UBERON:0010677 biolink:NamedThing manual digit 3 phalanx cartilage element A cartilage element that is part of a manual digit 3 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl hand digit 3 phalanx cartilage element|fore limb digit 3 phalanx cartilage condensation|manual digit III phalanx cartilage element EMAPA:18076 uberon owl:Class UBERON:0015027 biolink:NamedThing manual digit 3 phalanx endochondral element A manual digit 3 phalanx bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl manual digit 3 phalanx element|manual digit III phalanx endochondral element|manual digit 3 phalanx skeletal element uberon owl:Class HP:0031953 biolink:NamedThing Cautious gait Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen. tmpxe7fu0cj_hp_relaxed.owl Senile gait 2018-07-07 13:46:20+00:00 peter owl:Class HP:0410394 biolink:NamedThing Increased proportion of effector memory CD4-positive, alpha-beta T cells An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0410391 biolink:NamedThing Increased proportion of CD4-positive, alpha-beta memory T cells An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0006206 biolink:NamedThing pyrimidine nucleobase metabolic process The chemical reactions and pathways involving pyrimidine nucleobases, 1,3-diazine, organic nitrogenous bases. tmpxe7fu0cj_hp_relaxed.owl pyrimidine metabolism|pyrimidine metabolic process|pyrimidine base metabolic process|pyrimidine base metabolism biological_process owl:Class GO:0010911 biolink:NamedThing regulation of isomerase activity Any process that modulates the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0051254 biolink:NamedThing positive regulation of RNA metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA. tmpxe7fu0cj_hp_relaxed.owl upregulation of RNA metabolic process|activation of RNA metabolic process|up-regulation of RNA metabolic process|up regulation of RNA metabolic process|positive regulation of RNA metabolism|stimulation of RNA metabolic process biological_process owl:Class HP:0004256 biolink:NamedThing Abnormality of the trapezoid bone tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025388 human_phenotype owl:Class UBERON:0005672 biolink:NamedThing right lung endothelium An endothelium that is part of a right lung. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001755 uberon owl:Class GO:0051917 biolink:NamedThing regulation of fibrinolysis Any process that modulates the frequency, rate or extent of fibrinolysis, an ongoing process that solubilizes fibrin, resulting in the removal of small blood clots. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0005574 biolink:NamedThing Non-acidotic proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025176 human_phenotype owl:Class HP:0000114 biolink:NamedThing Proximal tubulopathy Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. tmpxe7fu0cj_hp_relaxed.owl Proximal renal tubulopathy|Selective proximal tubular damage|Proximal renal tubule defect|Proximal tubule dysfunction|Proximal tubular defect UMLS:C1839603 HP:0000806 human_phenotype owl:Class UBERON:0012141 biolink:NamedThing manual digitopodium region A digitopodium region that is part of a manus[Obol]. This includes the fingers and metacarpal region, but excludes the carpal region. tmpxe7fu0cj_hp_relaxed.owl uberon https://github.com/obophenotype/uberon/wiki/Subdivisions-of-the-autopod owl:Class some sources call this the acropodium. see https://github.com/obophenotype/uberon/wiki/Subdivisions-of-the-autopod GO:0009991 biolink:NamedThing response to extracellular stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class PR:P15702 biolink:NamedThing leukosialin (mouse) A leukosialin that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl Ly-48 (mouse)|leukocyte sialoglycoprotein (mouse)|lymphocyte antigen 48 (mouse)|Spn|sialophorin (mouse)|CD43 (mouse)|B-cell differentiation antigen LP-3 (mouse)|mSPN UniProtKB:P15702 Category=organism-gene. protein owl:Class GO:0002313 biolink:NamedThing mature B cell differentiation involved in immune response tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0004822 biolink:NamedThing extrahepatic bile duct epithelium An epithelium that is part of a extrahepatic bile duct [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl extrahepatic bile duct epithelial tissue|epithelial tissue of extrahepatic bile duct|epithelium of extrahepatic bile duct EHDAA:3051|EHDAA2:0000742|NCIT:C43618|MA:0002661|UMLS:C1711347 uberon owl:Class HP:0033546 biolink:NamedThing Mesangial microfibril deposition Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. tmpxe7fu0cj_hp_relaxed.owl 2021-01-21 13:38:19+00:00 peter owl:Class HP:0033544 biolink:NamedThing Mesangial fibril deposition Extracellular mesangial accumulation of slender proteinaceous fibers. tmpxe7fu0cj_hp_relaxed.owl 2021-01-21 13:33:47+00:00 peter owl:Class HP:0032550 biolink:NamedThing Howell-Jolly bodies Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets. tmpxe7fu0cj_hp_relaxed.owl 2019-06-14 10:19:19+00:00 Purple spheres, usually about 0.5 micrometers in diameter, presenting singly, or rarely multiply, in the cytoplasm of red blood cells. peter owl:Class HP:0020080 biolink:NamedThing Erythrocyte inclusion bodies Nuclear or cytoplasmic aggregates of substances in red blood cells. tmpxe7fu0cj_hp_relaxed.owl 2019-02-25 13:41:04+00:00 robinp owl:Class HP:0032325 biolink:NamedThing Lacunar stroke A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 11:57:13+00:00 peter owl:Class HP:0002140 biolink:NamedThing Ischemic stroke Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. tmpxe7fu0cj_hp_relaxed.owl Ischaemic stroke UMLS:C0948008|SNOMEDCT_US:422504002 owl:Class HP:0009926 biolink:NamedThing Epiphora Abnormally increased lacrimation, that is, excessive tearing (watering eye). tmpxe7fu0cj_hp_relaxed.owl Increased tears|Tearing|Increased lacrimation|Watery eyes SNOMEDCT_US:418035005|UMLS:C0152227|SNOMEDCT_US:193982009|MSH:D007766 Epiphora or tearing is the presence of a watering eye, which is a common complaint for referrals to oculoplastics clinics for evaluation. The etiology of tearing can be divided into two categories: reflex tearing and reduced tear outflow. Reflex tearing is usually secondary to dry eye, inflammation, allergy or other ocular surface disorders, whereas primary hypersecretion of the lacrimal glands is rare. Reduced tear outflow is due to eyelid malposition, tear pump dysfunction caused by eyelid laxity, or obstruction at any portion of the nasaolacrimal drainage system. peter 2009-05-02T10:52:28Z HP:0001486 human_phenotype owl:Class HP:0000632 biolink:NamedThing Lacrimation abnormality Abnormality of tear production. tmpxe7fu0cj_hp_relaxed.owl Abnormality of tear production UMLS:C4021801 HP:0000521 human_phenotype owl:Class CL:0005000 biolink:NamedThing spinal cord interneuron A CNS interneuron located in the spinal cord. tmpxe7fu0cj_hp_relaxed.owl Is_a interneuron, part_of UBERON:0002240. cell owl:Class CL:0000402 biolink:NamedThing CNS interneuron tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0032926 biolink:NamedThing Focal impaired awareness head nodding automatism seizure A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0010000 biolink:NamedThing multicellular anatomical structure An anatomical structure that has more than one cell as a part. tmpxe7fu0cj_hp_relaxed.owl multicellular structure CARO:0010000|FBbt:00100313 uberon owl:Class UBERON:0011366 biolink:NamedThing cleidobrachialis muscle This muscle makes up the distal segment of the brachiocephalicus. It originates at the clavicular tendon but functionally, from the head and neck through the cleidocervicalis. It inserts at the distal end of the cranial border of the humerus, where it lies between the biceps brachii medially and the brachialis laterally. The muscle partly covers the pectoral muscles at their insertions. In conjunction with the cleidocervicalis, it advances the limb, extends the shoulder and causes lateral movement of the head and neck. tmpxe7fu0cj_hp_relaxed.owl cleidobrachial|cleidobrachialis|cleidobrachial muscle EMAPA:37686|MA:0002274|NCIT:C52892|UMLS:C1707411 uberon owl:Class GO:0140013 biolink:NamedThing meiotic nuclear division tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:1903046 biolink:NamedThing meiotic cell cycle process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:2000375 biolink:NamedThing negative regulation of oxygen metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of oxygen metabolic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of oxygen metabolism|negative regulation of diatomic oxygen metabolic process mah 2011-02-11T02:03:44Z biological_process owl:Class GO:2000374 biolink:NamedThing regulation of oxygen metabolic process Any process that modulates the frequency, rate or extent of oxygen metabolic process. tmpxe7fu0cj_hp_relaxed.owl regulation of diatomic oxygen metabolic process|regulation of oxygen metabolism mah 2011-02-11T02:03:32Z biological_process owl:Class UBERON:0004239 biolink:NamedThing small intestine smooth muscle A portion of smooth muscle tissue that is part of a small intestine [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl small bowel involuntary muscle|non-striated muscle of small intestine|smooth muscle tissue of small intestine|smooth muscle of small intestine|involuntary muscle of small bowel|smooth muscle tissue of small bowel|smooth muscle of small bowel|small bowel smooth muscle|small bowel non-striated muscle|small intestine involuntary muscle|involuntary muscle of small intestine|non-striated muscle of small bowel|small bowel smooth muscle tissue|small intestine non-striated muscle|small intestine smooth muscle tissue MA:0001559|EMAPA:35783 uberon owl:Class MA class may specifically mean muscle layer, but we treat as the sum of smooth muscle in both muscle layer and muscularis mucosa CL:0002612 biolink:NamedThing neuron of the ventral spinal cord A neuron of the ventral spinal cord. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-03-06T07:46:03Z cell owl:Class HP:0000776 biolink:NamedThing Congenital diaphragmatic hernia The presence of a hernia of the diaphragm present at birth. tmpxe7fu0cj_hp_relaxed.owl Diaphragmatic hernia SNOMEDCT_US:17190001|MSH:D065630|UMLS:C0235833 Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period. HP:0006604 human_phenotype owl:Class HP:0100790 biolink:NamedThing Hernia tmpxe7fu0cj_hp_relaxed.owl Hernias SNOMEDCT_US:414403008|UMLS:C0019270|MSH:D006547|SNOMEDCT_US:52515009 doelkens 2011-06-08T02:33:37Z human_phenotype owl:Class UBERON:0036268 biolink:NamedThing pelvic vein tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0031935 biolink:NamedThing Ascending aorta hypoplasia Significant luminal narrowing of a long segment of or the entire ascending aorta. tmpxe7fu0cj_hp_relaxed.owl 2018-07-04 20:46:37+00:00 Coarctation of the aorta is defined as significant luminal narrowing of the aorta that produces hemodynamically significant obstruction to the flow of blood. This process may affect a short isolated segment of the aorta or a longer and more diffuse segment. When longer segments of the aorta are narrowed, the term hypoplasia is often used. Much less common than segmental coarctation, aortic hypoplasia has been described in all portions of the thoracic and abdominal aorta. peter owl:Class HP:0031784 biolink:NamedThing Abnormal ascending aorta morphology Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise. tmpxe7fu0cj_hp_relaxed.owl 2018-01-28 12:14:30+00:00 Fyler:1431 peter owl:Class GO:1903179 biolink:NamedThing regulation of dopamine biosynthetic process Any process that modulates the frequency, rate or extent of dopamine biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl regulation of dopamine anabolism|regulation of dopamine formation|regulation of dopamine synthesis|regulation of dopamine biosynthesis bf 2014-07-14T12:17:41Z biological_process owl:Class GO:0032504 biolink:NamedThing multicellular organism reproduction The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009941 biolink:NamedThing Asymmetry of the mouth The presence of an asymmetric mouth. tmpxe7fu0cj_hp_relaxed.owl Tilted mouth|Asymmetry of oral cavity|Uneven mouth|Crooked mouth|Canted mouth|Asymmetry of the mouth UMLS:C4024153 peter 2009-05-10T11:30:31Z human_phenotype owl:Class HP:0012745 biolink:NamedThing Short palpebral fissure Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. tmpxe7fu0cj_hp_relaxed.owl Decreased height of palpebral fissure|Short opening between the eyelids|Short palpebral fissures UMLS:C0423112|SNOMEDCT_US:246802000 peter 2014-03-23T05:27:40Z human_phenotype owl:Class HP:0200007 biolink:NamedThing Abnormal size of the palpebral fissures An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. tmpxe7fu0cj_hp_relaxed.owl Abnormal size of the eyes|Abnormal size of the opening between the eyelids UMLS:C4280286|UMLS:C4021904 sebastiankohler 2010-06-09T08:18:52Z human_phenotype owl:Class GO:0070962 biolink:NamedThing positive regulation of neutrophil mediated killing of bacterium Any process that increases the frequency, rate or extent of the directed killing of a bacterium by a neutrophil. tmpxe7fu0cj_hp_relaxed.owl stimulation of neutrophil mediated killing of bacterium|activation of neutrophil mediated killing of bacterium|up-regulation of neutrophil mediated killing of bacterium|upregulation of neutrophil mediated killing of bacterium|up regulation of neutrophil mediated killing of bacterium mah 2009-10-01T02:28:49Z biological_process owl:Class HP:0000060 biolink:NamedThing Clitoral hypoplasia Developmental hypoplasia of the clitoris. tmpxe7fu0cj_hp_relaxed.owl Small clitoris|Hypoplastic clitoris|Underdeveloped clit UMLS:C1844527 human_phenotype owl:Class HP:0040255 biolink:NamedThing Aplasia/Hypoplasia of the clitoris tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280693 owl:Class GO:0002920 biolink:NamedThing regulation of humoral immune response Any process that modulates the frequency, rate, or extent of a humoral immune response. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010250 biolink:NamedThing Fragmentation of the epiphyses of the distal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the outermost hand bones UMLS:C4023949 doelkens 2009-07-06T04:23:06Z human_phenotype owl:Class HP:0010232 biolink:NamedThing Fragmentation of the epiphyses of the phalanges of the hand Fragmented appearance of the epiphyses of the phalanges of the fingers. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of finger bones|Fragmentation of the epiphyses of the fingers UMLS:C4021308 doelkens 2009-07-06T03:31:52Z HP:0009363 human_phenotype owl:Class UBERON:0013142 biolink:NamedThing soleal vein A vein that drains the soleus. tmpxe7fu0cj_hp_relaxed.owl vein of soleus muscle|vena solealis|soleus vein uberon owl:Class HP:0008707 biolink:NamedThing Absent scrotum Congenital absence of the scrotum. tmpxe7fu0cj_hp_relaxed.owl Absent scrotum UMLS:C0426320|SNOMEDCT_US:249233008 Both the sac and rugae are absent. This finding may be accompanied by an (Apparently) absent testis and Cryptorchidism, which should be coded separately. human_phenotype owl:Class PR:P05532 biolink:NamedThing mast/stem cell growth factor receptor Kit (mouse) A mast/stem cell growth factor receptor that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl CD117 (mouse)|Kit|SCFR (mouse)|proto-oncogene c-Kit (mouse)|tyrosine-protein kinase Kit (mouse)|mKIT|Sl UniProtKB:P05532 Category=organism-gene. protein owl:Class UBERON:0003269 biolink:NamedThing skeletal muscle tissue of eye A portion of skeletal muscle tissue that is part of a eye [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl eye skeletal muscle|eye skeletal muscle group|skeletal muscle tissue of eye|eye skeletal muscle tissue EHDAA:2923|EMAPA:17844|EHDAA2:0000486 uberon owl:Class UBERON:0003249 biolink:NamedThing epithelium of otic placode An epithelium that is part of a otic placode [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl otic placode epithelial tissue|otic placode epithelium|otic epithelium|epithelial tissue of otic placode EMAPA:16197|EHDAA:510|ZFA:0007068|VHOG:0000636|EHDAA2:0001341 check ZFA, placemeant, appears to refer to both adult structures and primordium uberon owl:Class HP:0031428 biolink:NamedThing Increased circulating osteocalcin level An elevated level of osteocalcin in the blood. tmpxe7fu0cj_hp_relaxed.owl 2017-09-16 11:32:28+00:00 peter owl:Class HP:0031427 biolink:NamedThing Abnormal circulating osteocalcin level A deviation from the normal concentration of osteocalcin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2017-09-16 11:25:47+00:00 Osteocalcin, also known as bone gamma-carboxyglutamic acid (Gla) protein (BGP), is the most abundant noncollagenous protein of bone matrix. It is released by osteoblasts during bone formation and binds with the mineralized bone matrix. Osteocalcin has an endocrine function, regulating glucose and lipid homeostasis. peter owl:Class UBERON:0019291 biolink:NamedThing white matter of metencephalon tmpxe7fu0cj_hp_relaxed.owl HBA:9287|FMA:83939 uberon owl:Class UBERON:0019258 biolink:NamedThing white matter of hindbrain A white matter that is part of the hindbrain. tmpxe7fu0cj_hp_relaxed.owl DHBA:10668|FMA:268636 uberon owl:Class CL:4028001 biolink:NamedThing pulmonary capillary endothelial cell Any capillary endothelial cell that is part of a lung. tmpxe7fu0cj_hp_relaxed.owl lung capillary endothelial cell 2021-11-23 02:31:40+00:00 owl:Class CL:2000016 biolink:NamedThing lung microvascular endothelial cell Any lung endothelial cell that is part of a microvascular endothelium. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-06-04T16:00:56Z cell owl:Class CL:0000547 biolink:NamedThing proerythroblast An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. tmpxe7fu0cj_hp_relaxed.owl pronormoblast|rubriblast FMA:83518 cell owl:Class CL:0000764 biolink:NamedThing erythroid lineage cell A immature or mature cell in the lineage leading to and including erythrocytes. tmpxe7fu0cj_hp_relaxed.owl erythropoietic cell CALOHA:TS-0290|FMA:62845|FMA:83516 Note that in FMA erythropoietic cells are types of nucleated erythrocytes and thus don't include erythrocytes. CL:0002156 cell owl:Class GO:2001213 biolink:NamedThing negative regulation of vasculogenesis Any process that stops, prevents or reduces the frequency, rate or extent of vasculogenesis. tmpxe7fu0cj_hp_relaxed.owl negative regulation of vascular morphogenesis yaf 2011-11-15T01:22:36Z biological_process owl:Class GO:0045596 biolink:NamedThing negative regulation of cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of cell differentiation. tmpxe7fu0cj_hp_relaxed.owl down regulation of cell differentiation|downregulation of cell differentiation|inhibition of cell differentiation|down-regulation of cell differentiation biological_process owl:Class HP:0009263 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 4th finger A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the innermost bone of the ring finger UMLS:C4024486 doelkens 2009-01-07T12:12:59Z human_phenotype owl:Class HP:0005824 biolink:NamedThing Clinodactyly of the 2nd toe Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe). tmpxe7fu0cj_hp_relaxed.owl Curvature of 2nd toe|Clinodactyly of second toes UMLS:C4280473|UMLS:C4021620 human_phenotype owl:Class HP:0010326 biolink:NamedThing Deviation of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Displacement of the 2nd toe UMLS:C4021297 doelkens 2009-07-16T11:40:18Z human_phenotype owl:Class GO:2000725 biolink:NamedThing regulation of cardiac muscle cell differentiation Any process that modulates the frequency, rate or extent of cardiac muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of heart muscle cell differentiation|regulation of cardiomyocyte differentiation vk 2011-06-08T10:51:06Z biological_process owl:Class GO:0051153 biolink:NamedThing regulation of striated muscle cell differentiation Any process that modulates the frequency, rate or extent of striated muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class PATO:0001735 biolink:NamedThing liquid configuration tmpxe7fu0cj_hp_relaxed.owl owl:Class PATO:0001548 biolink:NamedThing quality of a liquid A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape. tmpxe7fu0cj_hp_relaxed.owl liquidity quality owl:Class HP:0005978 biolink:NamedThing Type II diabetes mellitus A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. tmpxe7fu0cj_hp_relaxed.owl Type 2 diabetes|Noninsulin dependent diabetes mellitus|NIDDM diabetes mellitus|Diabetes mellitus Type II|Diabetes mellitus type 2|Noninsulin-dependent diabetes|Non-insulin dependent diabetes|Diabetes mellitus, noninsulin-dependent|NIDDM|Type II diabetes|Noninsulin-dependent diabetes mellitus SNOMEDCT_US:44054006|MSH:D003924|UMLS:C0011860 Persons with type II diabetes mellitus rarely develop ketoacidosis. HP:0100652|HP:0005965 human_phenotype owl:Class GO:0043235 biolink:NamedThing receptor complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:1905209 biolink:NamedThing positive regulation of cardiocyte differentiation Any process that activates or increases the frequency, rate or extent of cardiocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of heart cell differentiation|up regulation of cardiac cell differentiation|up regulation of heart cell differentiation|activation of cardiac cell differentiation|upregulation of cardiac cell differentiation|upregulation of cardiocyte differentiation|positive regulation of heart cell differentiation|up-regulation of cardiocyte differentiation|up-regulation of cardiac cell differentiation|activation of cardiocyte differentiation|activation of heart cell differentiation|up regulation of cardiocyte differentiation|positive regulation of cardiac cell differentiation|upregulation of heart cell differentiation bc 2016-06-02T07:20:16Z biological_process owl:Class HP:0008639 biolink:NamedThing Gonadal hypoplasia tmpxe7fu0cj_hp_relaxed.owl Underdeveloped gonad UMLS:C0239761 human_phenotype owl:Class HP:0000812 biolink:NamedThing Abnormal internal genitalia An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). tmpxe7fu0cj_hp_relaxed.owl Abnormal internal genitalia UMLS:C4025824 human_phenotype owl:Class HP:0004219 biolink:NamedThing Abnormality of the middle phalanx of the 5th finger tmpxe7fu0cj_hp_relaxed.owl Abnormality of the middle bone of little finger|Abnormality of the middle bone of pinky finger|Abnormality of the middle bone of pinkie finger UMLS:C4025406 human_phenotype owl:Class CHEBI:35789 biolink:NamedThing oxo steroid tmpxe7fu0cj_hp_relaxed.owl ketosteroids|oxo steroids|oxosteroids|keto steroids CHEBI:24979|CHEBI:25804 chebi_ontology owl:Class HP:0100528 biolink:NamedThing Pleuropulmonary blastoma A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1266144|SNOMEDCT_US:707670009|MSH:C537516|NCIT:C3732|SNOMEDCT_US:128763002 doelkens 2010-12-20T11:48:57Z human_phenotype owl:Class HP:0001853 biolink:NamedThing Bifid distal phalanx of toe tmpxe7fu0cj_hp_relaxed.owl Bifid distal phalanges of toes|Notched outermost bones of toes|Bifid terminal phalanx of toe UMLS:C4021772 HP:0005615 human_phenotype owl:Class HP:0009136 biolink:NamedThing Duplication involving bones of the feet tmpxe7fu0cj_hp_relaxed.owl Duplication involving bones of the feet UMLS:C4024578 peter 2008-04-17T02:45:00Z human_phenotype owl:Class UBERON:0035776 biolink:NamedThing accessory ciliary ganglion A parasympathetic ganglion located on the short ciliary nerve differentiated from the main ciliary ganglion by virtue of the fact that it had no root derived directly from the inferior trunk of the oculomotor nerve and it never attaches to this nerve. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class tested for and found to be present in pig, sika deer, domestic sheep, horse, cat, fox, racoon dog, marten, rat, rabbit, crab-eating macaque, japanese macaque and human[PMID:2802184] UBERON:0035783 biolink:NamedThing ganglion of ciliary nerve Any parasympathetic ganglion that extends fibers into the short ciliary nerve. Includes both the main and acccessory ciliary ganglia. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0025257 biolink:NamedThing Ameliorated by carbohydrate ingestion Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar). tmpxe7fu0cj_hp_relaxed.owl 2016-12-17 14:21:33+00:00 HPO:probinson owl:Class HP:0032949 biolink:NamedThing Renal interstitial calcium phosphate deposits The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032644 biolink:NamedThing Renal interstitial deposits Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0007010 biolink:NamedThing cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpxe7fu0cj_hp_relaxed.owl cytoskeletal regulator activity|cytoskeletal organization and biogenesis|cytoskeleton organization and biogenesis|cytoskeleton organisation biological_process owl:Class HP:0005575 biolink:NamedThing Hemolytic-uremic syndrome A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. tmpxe7fu0cj_hp_relaxed.owl Hemolytic uremic syndrome MSH:D006463|SNOMEDCT_US:111407006|UMLS:C0019061 owl:Class HP:0040297 biolink:NamedThing Preauricular cyst Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0000383 biolink:NamedThing Abnormality of periauricular region tmpxe7fu0cj_hp_relaxed.owl Abnormality of the region around the ear|Deformity of the periauricular region|Malformation of the periauricular region|Anomaly of the periauricular region UMLS:C4025856 human_phenotype owl:Class HP:0010601 biolink:NamedThing Abnormality of the proximal ulnar epiphysis Any abnormality of the proximal epiphysis of the ulna. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023772 sandra1 2009-10-22T06:41:21Z human_phenotype owl:Class HP:0004037 biolink:NamedThing Abnormality of the ulnar epiphyses tmpxe7fu0cj_hp_relaxed.owl Abnormality of the epiphyseal plate of the ulna UMLS:C4021689 human_phenotype owl:Class GO:2000726 biolink:NamedThing negative regulation of cardiac muscle cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of cardiomyocyte differentiation|negative regulation of heart muscle cell differentiation vk 2011-06-08T10:51:11Z biological_process owl:Class GO:0048147 biolink:NamedThing negative regulation of fibroblast proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of multiplication or reproduction of fibroblast cells. tmpxe7fu0cj_hp_relaxed.owl down regulation of fibroblast proliferation|downregulation of fibroblast proliferation|down-regulation of fibroblast proliferation|inhibition of fibroblast proliferation biological_process owl:Class GO:0048145 biolink:NamedThing regulation of fibroblast proliferation Any process that modulates the frequency, rate or extent of multiplication or reproduction of fibroblast cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100389 biolink:NamedThing Short distal phalanx of the 3rd toe Developmental hypoplasia of the distal phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Short distal phalanx of the third toe|Short outermost bone of the 3rd toe|Hypoplastic/small distal phalanx of the 3rd toe UMLS:C4021008 human_phenotype owl:Class HP:0100366 biolink:NamedThing Short phalanx of the 3rd toe Developmental hypoplasia of the phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Short 3rd toe bone|Short phalanx of the third toe|Hypoplastic/small phalanges of the 3rd toe UMLS:C4021014 human_phenotype owl:Class CHEBI:32846 biolink:NamedThing serinium An alpha-amino-acid cation that is the conjugate acid of serine. tmpxe7fu0cj_hp_relaxed.owl serinium|serine cation|1-carboxy-2-hydroxyethanaminium +1 C3H8NO3 InChI=1S/C3H7NO3/c4-2(1-5)3(6)7/h2,5H,1,4H2,(H,6,7)/p+1 MTCFGRXMJLQNBG-UHFFFAOYSA-O 106.10056 106.04987 [NH3+]C(CO)C(O)=O Gmelin:1925675 chebi_ontology owl:Class GO:0030307 biolink:NamedThing positive regulation of cell growth Any process that activates or increases the frequency, rate, extent or direction of cell growth. tmpxe7fu0cj_hp_relaxed.owl activation of cell growth|stimulation of cell growth|upregulation of cell growth|up regulation of cell growth|up-regulation of cell growth biological_process owl:Class GO:0048522 biolink:NamedThing positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpxe7fu0cj_hp_relaxed.owl upregulation of cellular process|activation of cellular process|up regulation of cellular process|stimulation of cellular process|positive regulation of cellular physiological process|up-regulation of cellular process GO:0051242 biological_process owl:Class CL:0000107 biolink:NamedThing autonomic neuron A neuron whose cell body is within an autonomic ganglion. tmpxe7fu0cj_hp_relaxed.owl FMA:80121 cell owl:Class GO:0060946 biolink:NamedThing cardiac blood vessel endothelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a blood vessel endothelial cell of the heart. Blood vessel endothelial cells are thin flattened cells that line the inside surfaces of blood vessels. tmpxe7fu0cj_hp_relaxed.owl dph 2009-09-29T02:48:55Z biological_process owl:Class HP:0008189 biolink:NamedThing Insulin insensitivity Decreased sensitivity toward insulin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1864570 human_phenotype owl:Class HP:0011014 biolink:NamedThing Abnormal glucose homeostasis Abnormality of glucose homeostasis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023598 An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell. peter 2011-02-21T10:37:21Z human_phenotype owl:Class HP:0033078 biolink:NamedThing Decreased circulating free T4 level A reduced concentration of free thyroxine (fT4) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033076 biolink:NamedThing Abnormal circulating free T4 level A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating free thyroxine level peter owl:Class HP:0007988 biolink:NamedThing Macular hypopigmentation Decreased amount of pigmentation in the macula lutea. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024759 human_phenotype owl:Class GO:0055024 biolink:NamedThing regulation of cardiac muscle tissue development Any process that modulates the frequency, rate or extent of cardiac muscle tissue development. tmpxe7fu0cj_hp_relaxed.owl regulation of heart muscle development biological_process owl:Class UBERON:0003619 biolink:NamedThing aorta tunica intima The innermost layer of the aorta, containing the endothelium and an inner elastic membrane. tmpxe7fu0cj_hp_relaxed.owl tunica intima of aorta|dorsal aorta tunica intima|tunica intima of adult aorta|tunica intima of dorsal aorta|trunk of aortic tree tunica intima|adult aorta tunica intima|tunica intima of trunk of aortic tree EMAPA:35137|MA:0002904|BTO:0005553|SCTID:362031007|FMA:74419 uberon owl:Class UBERON:0002523 biolink:NamedThing tunica intima The innermost layer of a blood vessel which is a lining of endothelial cells facing the lumen[Kardong]. tmpxe7fu0cj_hp_relaxed.owl intima|Bichat's tunic|tunica intima vasorum Wikipedia:Tunica_intima|UMLS:C0162864|SCTID:8361002|EMAPA:36297|GAID:523|BTO:0002012|NCIT:C33820|MESH:D017539|FMA:55589|MA:0002861|SCTID:87483006 Illu:artery.jpg the FMA class represents a structure which may have both epithelium and fibroelastic connective tissue as parts|the FMA class represents a more generic layer which is the superclass of the layer found in both blood vessels and lymph vessels (and also endocardium) - we should probably follow this structure uberon owl:Class The tunica intima (or just intima) is the innermost layer of an artery or vein. It is made up of one layer of endothelial cells and is supported by an internal elastic lamina. The endothelial cells are in direct contact with the blood flow. The inner coat (tunica intima) can be separated from the middle by a little maceration, or it may be stripped off in small pieces; but, on account of its friability, it cannot be separated as a complete membrane. It is a fine, transparent, colorless structure which is highly elastic, and, after death, is commonly corrugated into longitudinal wrinkles. The inner coat consists of: A layer of pavement endothelium, the cells of which are polygonal, oval, or fusiform, and have very distinct round or oval nuclei. This endothelium is brought into view most distinctly by staining with silver nitrate. A subendothelial layer, consisting of delicate connective tissue with branched cells lying in the interspaces of the tissue; in arteries of less than 2 mm. in diameter the subendothelial layer consists of a single stratum of stellate cells, and the connective tissue is only largely developed in vessels of a considerable size. An elastic or fenestrated layer, which consists of a membrane containing a net-work of elastic fibers, having principally a longitudinal direction, and in which, under the microscope, small elongated apertures or perforations may be seen, giving it a fenestrated appearance. It was therefore called by Henle the fenestrated membrane. This membrane forms the chief thickness of the inner coat, and can be separated into several layers, some of which present the appearance of a network of longitudinal elastic fibers, and others a more membranous character, marked by pale lines having a longitudinal direction. In minute arteries the fenestrated membrane is a very thin layer; but in the larger arteries, and especially in the aorta, it has a very considerable thickness. [WP,unvetted].[Wikipedia] GO:0002351 biolink:NamedThing serotonin production involved in inflammatory response tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0002532 biolink:NamedThing production of molecular mediator involved in inflammatory response The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels. tmpxe7fu0cj_hp_relaxed.owl production of molecular mediator involved in acute inflammatory response|production of cellular mediator of acute inflammation biological_process owl:Class GO:0090368 biolink:NamedThing regulation of ornithine metabolic process Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis. tmpxe7fu0cj_hp_relaxed.owl tb 2010-07-12T11:14:12Z biological_process owl:Class UBERON:0018608 biolink:NamedThing permanent molar tooth 1 tmpxe7fu0cj_hp_relaxed.owl permanent first molar tooth|first permanent molar tooth|first permanent molar uberon owl:Class HP:0033260 biolink:NamedThing Livedo racemosa Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 14:55:03+00:00 peter owl:Class HP:0033832 biolink:NamedThing Livedo A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels. tmpxe7fu0cj_hp_relaxed.owl Livedoid dermatitis 2021-05-09 12:35:14+00:00 peter owl:Class UBERON:0003283 biolink:NamedThing mesentery of oesophagus A mesentery that is part of a esophagus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl meso-esophagus|mesentery of esophagus|mesentery of gullet|oesophagus mesentery|esophagus mesentery|gullet mesentery EHDAA2:0001288|EHDAA:2943|VHOG:0000415|EMAPA:16836|MA:0001569 uberon owl:Class Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] UBERON:0001975 biolink:NamedThing serosa of esophagus A serous membrane that is part of a esophagus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl esophagus serosa|oesophagus serosa|serous membrane of gullet|serosa of abdominal part of esophagus|oesophagus serous membrane|tunica serosa oesophageae|esophagus serous membrane|gullet serosa|gullet serous membrane|serosa of gullet|serous coat of oesophagus|serous membrane of oesophagus|serosa of oesophagus|serous membrane of esophagus MA:0001571|EMAPA:35322|FMA:63057 uberon owl:Class GO:0034351 biolink:NamedThing negative regulation of glial cell apoptotic process Any process that stops, prevents, or reduces the frequency, rate, or extent of glial cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl inhibition of glial cell apoptosis|down regulation of glial cell apoptosis|down-regulation of glial cell apoptosis|negative regulation of glial cell apoptosis|downregulation of glial cell apoptosis biological_process owl:Class HP:0001166 biolink:NamedThing Arachnodactyly Abnormally long and slender fingers ("spider fingers"). tmpxe7fu0cj_hp_relaxed.owl Long slender fingers|Spider fingers|Long, slender fingers MSH:D054119|SNOMEDCT_US:62250003|UMLS:C0003706 HP:0001505 human_phenotype owl:Class HP:0001238 biolink:NamedThing Slender finger Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. tmpxe7fu0cj_hp_relaxed.owl Narrow fingers|thin fingers|Slender fingers|Slender finger UMLS:C1857482 human_phenotype owl:Class HP:0012553 biolink:NamedThing Hypoplastic thumbnail A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped thumbnail|Small thumbnail UMLS:C4022850 peter 2014-01-04T12:57:28Z human_phenotype owl:Class HP:0001804 biolink:NamedThing Hypoplastic fingernail Underdevelopment of a fingernail. tmpxe7fu0cj_hp_relaxed.owl Small fingernail|Underdeveloped fingernail UMLS:C1856786 human_phenotype owl:Class UBERON:0003244 biolink:NamedThing epithelium of mammary gland The epithelial layer of the luminal surfaces of the mammary gland. tmpxe7fu0cj_hp_relaxed.owl epithelium of lactiferous gland|mammary gland epithelial tissue|mammary epithelium|mammary gland epithelium|lactiferous gland epithelium MA:0000792|FMA:74445|BTO:0001430|VHOG:0001088|CALOHA:TS-0593|NCIT:C12937|EHDAA:6526|EHDAA2:0001057|UMLS:C0596882|EMAPA:17760 uberon owl:Class GO:0060045 biolink:NamedThing positive regulation of cardiac muscle cell proliferation Any process that activates or increases the frequency, rate or extent of cardiac muscle cell proliferation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of heart muscle cell proliferation biological_process owl:Class HP:0010024 biolink:NamedThing Epiphyseal stippling of the first metacarpal The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the first long bone of hand|Stippling of the epiphysis of the 1st metacarpal UMLS:C4021345 doelkens 2009-05-27T04:02:50Z human_phenotype owl:Class HP:0010277 biolink:NamedThing Stippling of the epiphyses of the proximal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the innermost hand bones UMLS:C4023924 doelkens 2009-07-06T04:25:12Z owl:Class UBERON:0001768 biolink:NamedThing uvea The pigmented middle of the three concentric layers that make up an eye, consisting of the iris, ciliary body and choroid[WP,edited]. tmpxe7fu0cj_hp_relaxed.owl tunica vasculosa bulbi|vascular layer of eyeball|uveal tract|uvea|tunica vasculatis oculi|tunica vasculosa of eyeball|pars iridica retinae FMA:58103|SCTID:280648000|Wikipedia:Uvea|MA:0002480|UMLS:C0042160|CALOHA:TS-2228|NCIT:C12811|MESH:D014602|GAID:912|EMAPA:35901 http://upload.wikimedia.org/wikipedia/commons/e/eb/Gray869.png TODO - check child terms, isa vs partof. See also MA:0001284 ! tunica vasculosa plexus uberon owl:Class uveal HP:0008819 biolink:NamedThing Narrow femoral neck An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). tmpxe7fu0cj_hp_relaxed.owl Narrow femoral necks|Narrow neck of thigh bone UMLS:C1863739 human_phenotype owl:Class HP:0003367 biolink:NamedThing Abnormal femoral neck morphology An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). tmpxe7fu0cj_hp_relaxed.owl Abnormal neck of thigh bone|Abnormality of the femoral neck UMLS:C4025621 owl:Class HP:0012153 biolink:NamedThing Hypotriglyceridemia An decrease in the level of triglycerides in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood triglyceride levels|Decreased plasma Tg levels|Decreased circulating Tg levels UMLS:C0542037 peter 2012-09-20T06:39:11Z human_phenotype owl:Class HP:0045014 biolink:NamedThing Hypolipidemia tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:238090007|UMLS:C0342892 HPO:skoehler owl:Class GO:1905901 biolink:NamedThing positive regulation of smooth muscle tissue development Any process that activates or increases the frequency, rate or extent of smooth muscle tissue development. tmpxe7fu0cj_hp_relaxed.owl activation of smooth muscle tissue development|up-regulation of smooth muscle tissue development|upregulation of smooth muscle tissue development|up regulation of smooth muscle tissue development bhm 2017-02-01T14:31:33Z biological_process owl:Class GO:1905899 biolink:NamedThing regulation of smooth muscle tissue development Any process that modulates the frequency, rate or extent of smooth muscle tissue development. tmpxe7fu0cj_hp_relaxed.owl bhm 2017-02-01T14:31:16Z biological_process owl:Class UBERON:0005137 biolink:NamedThing metanephric capsule The metanephric capsule is the tough fibrous layer surrounding the metanephros, covered in a thick layer of perinephric adipose tissue. It provides some protection from trauma and damage[GO]. tmpxe7fu0cj_hp_relaxed.owl UBERON:0005112 uberon owl:Class UBERON:0002015 biolink:NamedThing kidney capsule The tough fibrous layer surrounding the kidney which is covered in a thick layer of perirenal adipose tissue that functions to provide some protection from trauma and damage. tmpxe7fu0cj_hp_relaxed.owl capsule of kidney|capsula fibrosa renis|renal capsule|fibrous capsule of kidney EMAPA:18679|galen:CapsuleOfKidney|FMA:66610|MA:0000370|NCIT:C12885|UMLS:C0227637 Illu:kidney.jpg uberon owl:Class provides some protection from trauma and damage. The renal capsule relates to the other layers in the following order (moving from innermost to outermost): renal medulla renal cortex renal capsule perinephric fat (or 'perirenal fat') renal fascia paranephric fat (or 'pararenal fat') peritoneum (anteriorly), and transversalis fascia (posteriorly).[Wikipedia:Kidney_capsule] UBERON:0004316 biolink:NamedThing distal phalanx of pedal digit 2 A distal phalanx that is part of a foot digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl distal phalanx of 2nd toe|foot digit 2 distal phalanx|distal phalanx of second digit of foot|distal phalanx of the 2nd toe|distal phalanx of foot digit 2|second distal phalanx of foot|2nd toe distal phalanx|distal phalanx of second toe|distal phalanx of pedal digit II FMA:32628 uberon owl:Class GO:0000904 biolink:NamedThing cell morphogenesis involved in differentiation The change in form (cell shape and size) that occurs when relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0000902 biolink:NamedThing cell morphogenesis The developmental process in which the size or shape of a cell is generated and organized. tmpxe7fu0cj_hp_relaxed.owl cellular morphogenesis GO:0045790|GO:0007148|GO:0045791 biological_process owl:Class UBERON:0002111 biolink:NamedThing artery smooth muscle tissue A portion of smooth muscle tissue that is part of an artery [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl artery smooth muscle tissue|arterial smooth muscle cell|arterial smooth muscle|artery smooth muscle|smooth muscle of artery BTO:0000087|EMAPA:36285|FMA:72024|UMLS:C1706851|MA:0000708|NCIT:C49195|CALOHA:TS-1198 uberon owl:Class HP:0001304 biolink:NamedThing Torsion dystonia Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. tmpxe7fu0cj_hp_relaxed.owl Dystonia musculorum deformans SNOMEDCT_US:431034009|SNOMEDCT_US:22451001|UMLS:C0013423|MSH:D004422 human_phenotype owl:Class HP:0004150 biolink:NamedThing Abnormal 3rd finger morphology An anomaly of the third finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the middle finger|Abnormality of the 3rd finger UMLS:C4021682 human_phenotype owl:Class CHEBI:59266 biolink:NamedThing amino trisaccharide An amino oligosaccharide that is a trisaccharide having one or more substituted or unsubstituted amino groups in place of hydroxy groups at unspecified positions. tmpxe7fu0cj_hp_relaxed.owl amino trisaccharides chebi_ontology owl:Class CHEBI:22483 biolink:NamedThing amino oligosaccharide tmpxe7fu0cj_hp_relaxed.owl amino oligosaccharides chebi_ontology owl:Class HP:0500224 biolink:NamedThing Decreased CSF phenylalanine concentration Abnormally decreased levels of phenylalanine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Low phenylalanine levels in cerebrospinal fluid 2019-02-25 20:13:51+00:00 owl:Class HP:0500215 biolink:NamedThing Abnormal CSF phenylalanine concentration Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal phenylalanine levels in cerebrospinal fluid 2019-02-25 19:28:51+00:00 owl:Class CL:2000032 biolink:NamedThing peripheral nervous system neuron Any neuron that is part of a peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-06-25T02:28:17Z cell owl:Class GO:1903076 biolink:NamedThing regulation of protein localization to plasma membrane Any process that modulates the frequency, rate or extent of protein localization to plasma membrane. tmpxe7fu0cj_hp_relaxed.owl regulation of protein-plasma membrane targeting|regulation of establishment of protein localization in plasma membrane|regulation of establishment of protein localisation in plasma membrane|regulation of establishment of protein localization to plasma membrane|regulation of protein localization in plasma membrane|regulation of protein localisation in plasma membrane|regulation of protein targeting to plasma membrane tb 2009-07-10T10:32:44Z GO:0090003|GO:1905963 biological_process owl:Class GO:1904375 biolink:NamedThing regulation of protein localization to cell periphery Any process that modulates the frequency, rate or extent of protein localization to cell periphery. tmpxe7fu0cj_hp_relaxed.owl sl 2015-06-22T22:09:25Z biological_process owl:Class HP:0008179 biolink:NamedThing Decreased Arden ratio of electrooculogram An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. tmpxe7fu0cj_hp_relaxed.owl Decreased Arden ratio of EOG UMLS:C4024720 human_phenotype owl:Class HP:0030454 biolink:NamedThing Abnormal electrooculogram The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation. tmpxe7fu0cj_hp_relaxed.owl Abnormal EOG UMLS:C0159104|SNOMEDCT_US:442770004 owl:Class GO:2000495 biolink:NamedThing regulation of cell proliferation involved in compound eye morphogenesis Any process that modulates the frequency, rate or extent of cell proliferation involved in compound eye morphogenesis. tmpxe7fu0cj_hp_relaxed.owl bf 2011-03-18T02:18:34Z biological_process owl:Class GO:0010769 biolink:NamedThing regulation of cell morphogenesis involved in differentiation Any process that modulates the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0002374 biolink:NamedThing Diminished movement tmpxe7fu0cj_hp_relaxed.owl Diminished movement UMLS:C4025710 human_phenotype owl:Class GO:0043412 biolink:NamedThing macromolecule modification The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0043170 biolink:NamedThing macromolecule metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpxe7fu0cj_hp_relaxed.owl macromolecule metabolism|organismal macromolecule metabolism|multicellular organismal macromolecule metabolic process|biopolymer metabolic process GO:0044259|GO:0043283 biological_process owl:Class HP:0010959 biolink:NamedThing Congenital pulmonary airway malformation Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles. tmpxe7fu0cj_hp_relaxed.owl Cystic adenomatoid lung disease|Congenital cystic adenomatoid malformation of the lung|CCAM|Congenital cystic disease of the lung UMLS:C0010668|SNOMEDCT_US:111318005|MSH:D015615 The term CPAM has been recommended as being preferable to the term congenital cystic adenomatoid malformation, since the lesions are cystic or adenomatoid in only a limited number of cases. Only three types of CPAMs are distinguished at imaging: large cyst CPAM (type I) and small cyst CPAM (type II), which constitute macrocystic CPAMs; and microcystic or solid type (type III) lesions, which have cysts that are smaller than 5 mm in diameter, with no discernible cystic spaces. peter 2011-01-18T11:56:02Z HP:0006545|HP:0006540 owl:Class HP:0005948 biolink:NamedThing Multiple pulmonary cysts The presence of multiple lung cysts. tmpxe7fu0cj_hp_relaxed.owl Multiple lung cysts|Cystic lung disease MSH:C563237|UMLS:C1384901 Emphysematous changes sometimes can be mistaken for multifocal lung cysts. In contrast to true cysts, the cystlike lucencies caused by the destruction of lung parenchyma in emphy-sema do not have walls. Nevertheless, emphysema can be accompanied by multiple cysts, such as bullae, or in association with LCH. human_phenotype owl:Class HP:0011236 biolink:NamedThing Angulated antihelix Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023446 peter 2011-12-18T10:42:17Z human_phenotype owl:Class HP:0009738 biolink:NamedThing Abnormal antihelix morphology An abnormality of the antihelix. tmpxe7fu0cj_hp_relaxed.owl Abnormal antihelix|Abnormal antehelix|Abnormal anthelix UMLS:C4021395 An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis. peter 2009-01-31T12:39:37Z owl:Class HP:0032873 biolink:NamedThing Focal aware sensory seizure with cephalic sensation A seizure characterized by a sensation in the head such as light-headedness or headache. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032810 biolink:NamedThing Focal sensory seizure with cephalic sensation A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation. tmpxe7fu0cj_hp_relaxed.owl Cephalic aura|Focal seizure with cephalic sensation|Partial seizure with cephalic sensation peter owl:Class GO:0031341 biolink:NamedThing regulation of cell killing Any process that modulates the frequency, rate or extent of cell killing, the process in which a cell brings about the death of another cell, either in the same or a different organism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009660 biolink:NamedThing Short phalanx of the thumb Hypoplastic (short) thumb phalanx. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic thumb phalanges|Hypoplastic/small phalanges of the thumb|Short thumb bone|Short thumb phalanges UMLS:C4021411 doelkens 2009-01-29T05:35:50Z HP:0004071|HP:0004069 human_phenotype owl:Class HP:0003481 biolink:NamedThing Segmental peripheral demyelination/remyelination A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves. tmpxe7fu0cj_hp_relaxed.owl Segmental demyelination/remyelination UMLS:C1843077 HP:0003425 human_phenotype owl:Class HP:0008615 biolink:NamedThing Adult onset sensorineural hearing impairment The presence of sensorineural deafness with late onset. tmpxe7fu0cj_hp_relaxed.owl Sensorineural deafness, late-onset|Late sensorineural hearing loss UMLS:C4021534 HP:0008599|HP:0008532 human_phenotype owl:Class GO:0007283 biolink:NamedThing spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. tmpxe7fu0cj_hp_relaxed.owl generation of spermatozoa Wikipedia:Spermatogenesis biological_process owl:Class HP:0007115 biolink:NamedThing Orbital encephalocele tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:15671007|UMLS:C0271330 human_phenotype owl:Class CHEBI:27171 biolink:NamedThing organic heterobicyclic compound tmpxe7fu0cj_hp_relaxed.owl heterobicyclic compounds|organic heterobicyclic compounds chebi_ontology owl:Class HP:0500183 biolink:NamedThing Abnormal CSF carboxylic acid concentration Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl 2019-02-25 15:15:53+00:00 owl:Class HP:0031565 biolink:NamedThing Abdominal situs ambiguus An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. tmpxe7fu0cj_hp_relaxed.owl 2017-09-29 22:56:16+00:00 Fyler:3817 peter owl:Class HP:0410020 biolink:NamedThing Fish odor Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals. tmpxe7fu0cj_hp_relaxed.owl Fishy body odor|Fish odour|Fishy body odour|Fishy odor|Fishy odour owl:Class HP:0500001 biolink:NamedThing Body odor A perceived unpleasant smell given off by the body. tmpxe7fu0cj_hp_relaxed.owl Bromidrosis|Body odour|BO|Body odor|Osmidrosis|Bromhidrosis owl:Class UBERON:0005472 biolink:NamedThing right vitelline vein A vitelline vein that is in the right side of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl EMAPA:16381|EMAPA:16699|FMA:70306|EHDAA2:0001766 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern CHEBI:20612 biolink:NamedThing 5-methyltetrahydrofolate A group of heterocyclic compounds based on the 5-methyl-5,6,7,8-tetrahydropteroic acid skeleton conjugated with one or more L-glutamic acid or L-glutamate units. tmpxe7fu0cj_hp_relaxed.owl 5-methyltetrahydrofolates chebi_ontology owl:Class CHEBI:25345 biolink:NamedThing methyltetrahydrofolate A group of heterocyclic compounds based on the N-methylated 5,6,7,8-tetrahydropteroic acid skeleton conjugated with one or more L-glutamic acid or L-glutamate units. tmpxe7fu0cj_hp_relaxed.owl methyltetrahydrofolates chebi_ontology owl:Class UBERON:0004780 biolink:NamedThing gastrointestinal system lamina propria A lamina propria that is part of a gastrointestinal system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1708197|MA:0001899|NCIT:C49299 uberon owl:Class HP:0001196 biolink:NamedThing Short umbilical cord Decreased length of the umbilical cord. tmpxe7fu0cj_hp_relaxed.owl Short umbilical cord SNOMEDCT_US:59795007|UMLS:C0266786 owl:Class HP:0009702 biolink:NamedThing Carpal synostosis Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). tmpxe7fu0cj_hp_relaxed.owl Carpal fusion|Fused carpal bones|Synostosis involving the carpal bones|Carpal bone fusion|Fused wrist bones|Fusion of carpal bones SNOMEDCT_US:253930002|UMLS:C0431863 doelkens 2009-01-30T04:25:10Z HP:0005799|HP:0001192 human_phenotype owl:Class HP:0100266 biolink:NamedThing Synostosis of carpals/tarsals The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus. tmpxe7fu0cj_hp_relaxed.owl Fusion of carpal and tarsal bones|Carpal and tarsal fusions|Coalescence of carpal and tarsal bones|Wrist bone/ankle bone fusions UMLS:C4021025 doelkens 2010-07-20T03:02:14Z HP:0005675|HP:0005823|HP:0005666 human_phenotype owl:Class UBERON:0018621 biolink:NamedThing upper canine tooth tmpxe7fu0cj_hp_relaxed.owl upper canine|upper cuspid|maxillary canine tooth uberon owl:Class CHEBI:51086 biolink:NamedThing chemical role A role played by the molecular entity or part thereof within a chemical context. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class BFO:0000023 biolink:NamedThing role A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts. tmpxe7fu0cj_hp_relaxed.owl Role role BFO 2 Reference: One major family of examples of non-rigid universals involves roles, and ontologies developed for corresponding administrative purposes may consist entirely of representatives of entities of this sort. Thus ‘professor’, defined as follows,b instance_of professor at t =Def. there is some c, c instance_of professor role & c inheres_in b at t.denotes a non-rigid universal and so also do ‘nurse’, ‘student’, ‘colonel’, ‘taxpayer’, and so forth. (These terms are all, in the jargon of philosophy, phase sortals.) By using role terms in definitions, we can create a BFO conformant treatment of such entities drawing on the fact that, while an instance of professor may be simultaneously an instance of trade union member, no instance of the type professor role is also (at any time) an instance of the type trade union member role (any more than any instance of the type color is at any time an instance of the type length).If an ontology of employment positions should be defined in terms of roles following the above pattern, this enables the ontology to do justice to the fact that individuals instantiate the corresponding universals – professor, sergeant, nurse – only during certain phases in their lives. b is a role means: b is a realizable entity & b exists because there is some single bearer that is in some special physical, social, or institutional set of circumstances in which this bearer does not have to be& b is not such that, if it ceases to exist, then the physical make-up of the bearer is thereby changed. (axiom label in BFO2 Reference: [061-001]) John’s role of husband to Mary is dependent on Mary’s role of wife to John, and both are dependent on the object aggregate comprising John and Mary as member parts joined together through the relational quality of being married.|the priest role|the student role|the role of a building in serving as a military target|the role of a stone in marking a property boundary|the role of subject in a clinical trial|the role of a boundary to demarcate two neighboring administrative territories (forall (x) (if (Role x) (RealizableEntity x))) // axiom label in BFO2 CLIF: [061-001] owl:Class UBERON:0004336 biolink:NamedThing proximal phalanx of pedal digit 5 A proximal phalanx that is part of a pedal digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl fifth proximal phalanx of foot|proximal phalanx of fifth toe|foot digit 5 proximal phalanx|proximal phalanx of foot digit 5|proximal phalanx of fifth digit of foot|proximal phalanx of little toe|proximal phalanx of 5th toe|predal digit 5 proximal phalanx|proximal phalanx of pedal digit V|proximal phalanx of the 5th toe|pedal phalanx V-1|5th toe proximal phalanx FMA:32621 uberon owl:Class UBERON:0014505 biolink:NamedThing proximal phalanx of digit 5 A proximal phalanx that is part of a autopod digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal phalanx of digit V|fifth digit proximal phalanx|5th digit of autopod proximal phalanx|digit V P1|fifth proximal phalanx of autopod|5th digit proximal phalanx|autopod digit 5 proximal phalanx|proximal phalanx of little digit|proximal phalanx of fifth digit|digit V-1|proximal phalanx of fifth digit of autopod|proximal phalanx of 5th digit of autopod|proximal phalanx of 5th digit uberon owl:Class UBERON:0002522 biolink:NamedThing tunica media The middle layer of an artery or vein. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl tunica media vasorum GAID:170|MESH:D017540|BTO:0002011|SCTID:61695000|EMAPA:36298|FMA:55590|UMLS:C0162867|MA:0002855|Wikipedia:Tunica_media|NCIT:C33821 May be composed of smooth muscle and elastic tissue Illu:artery.jpg uberon owl:Class UBERON:0004797 biolink:NamedThing blood vessel layer Any of the tissue layers that comprise a blood vessel. Examples: tunica media, tunica adventitia. tmpxe7fu0cj_hp_relaxed.owl EMAPA:36296|MA:0002854 Blood:vessels.svg uberon owl:Class HP:0410270 biolink:NamedThing Esophageal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus. tmpxe7fu0cj_hp_relaxed.owl 2018-10-30 02:10:29+00:00 owl:Class HP:0001566 biolink:NamedThing Widely-spaced maxillary central incisors Increased distance between the maxillary central permanent incisor tooth. tmpxe7fu0cj_hp_relaxed.owl Diastema between maxillary central incisors|Diastema between upper incisors|Central incisor gap|Diastema between upper front teeth|Widely spaced upper incisors|Separated superior central incisors|Wide upper central incisors|Gap between upper front teeth|Wide gap between upper central incisors|Diastasis of the central incisors UMLS:C4280252|UMLS:C1845110|UMLS:C1835762 HP:0001570|HP:0000669|HP:0006324|HP:0006300 human_phenotype owl:Class HP:0006304 biolink:NamedThing Widely-spaced incisors tmpxe7fu0cj_hp_relaxed.owl Widely spaced front teeth|Anterior diastema of teeth|Diastema between front teeth|Diastema between incisors|Gap between front teeth SNOMEDCT_US:196409003|UMLS:C0399545 human_phenotype owl:Class HP:0002608 biolink:NamedThing Celiac disease Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases. tmpxe7fu0cj_hp_relaxed.owl Coeliac disease|Celiac disease|Celiac sprue|Coeliac sprue MSH:D002446|UMLS:C0007570|SNOMEDCT_US:396331005 human_phenotype owl:Class UBERON:0003549 biolink:NamedThing brain pia mater The fibrous membrane forming the innermost of the three coverings that surrounds the brain within the cranial cavity that is firmly attached to the glial capsule. tmpxe7fu0cj_hp_relaxed.owl brain pia mater of neuraxis|pia mater of brain|pia mater of neuraxis of brain VHOG:0000470|NCIT:C49335|EV:0100315|MA:0000816|UMLS:C1706994|EMAPA:32667 uberon owl:Class The innermost of the three mammalian meninges covering the brain and spinal cord. [TFD][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] UBERON:0003547 biolink:NamedThing brain meninx A meninx that is part of a brain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl meninx of brain|meninges of brain|brain meninges CALOHA:TS-2147|EMAPA:32662|EV:0100312|VHOG:0000013|MA:0000813|SCTID:180949007 uberon owl:Class Meninges that are part of the brain. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] GO:0009790 biolink:NamedThing embryo development The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. tmpxe7fu0cj_hp_relaxed.owl embryogenesis|embryonal development|embryogenesis and morphogenesis Wikipedia:Embryogenesis GO:0009795 biological_process owl:Class HP:0025179 biolink:NamedThing Ground-glass opacification On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. tmpxe7fu0cj_hp_relaxed.owl Ground glass opacities|Ground-glass opacification on pulmonary HRCT|GGO 2016-12-04 19:55:32+00:00 Ground-glass opacification is a non-specific sign and can be observed with many conditions including infection, chronic interstitial disease and acute alveolar disease. See Figure 2 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. HPO:probinson owl:Class HP:0009443 biolink:NamedThing Osteolytic defects of the phalanges of the 3rd finger Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Lytic defects of middle finger phalanges UMLS:C4021472 doelkens 2009-01-14T04:09:01Z HP:0004159 human_phenotype owl:Class HP:0009316 biolink:NamedThing Abnormal 3rd finger phalanx morphology Abnormality of the phalanges of the 3rd (middle) finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the middle finger bones|Abnormality of middle finger phalanges|Abnormality of 3rd finger phalanges|Abnormality of the phalanges of the 3rd finger UMLS:C4021494 doelkens 2009-01-12T11:00:24Z HP:0004155 human_phenotype owl:Class UBERON:0001267 biolink:NamedThing femoral nerve The femoral nerve, the largest branch of the lumbar plexus, arises from the ventral divisions of the second, third, and fourth lumbar nerves. It descends through the fibers of the Psoas major, emerging from the muscle at the lower part of its lateral border, and passes down between it and the Iliacus, behind the iliac fascia; it then runs beneath the inguinal ligament, into the thigh, and splits into an anterior and a posterior division. Under the inguinal ligament, it is separated from the femoral artery by a portion of the Psoas major. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl anterior crural nerve|nervus femoralis GAID:850|UMLS:C0015808|NCIT:C52816|MA:0001167|EHDAA:5655|FMA:16486|EMAPA:35343|VHOG:0001411|EHDAA2:0000507|MESH:D005267|OpenCyc:Mx4rwGC03JwpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/7/7c/Gray823.png uberon owl:Class GO:0051957 biolink:NamedThing positive regulation of amino acid transport Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl up regulation of amino acid transport|upregulation of amino acid transport|up-regulation of amino acid transport|activation of amino acid transport|stimulation of amino acid transport|positive regulation of amino acid transmembrane transport biological_process owl:Class GO:0051955 biolink:NamedThing regulation of amino acid transport Any process that modulates the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0004436 biolink:NamedThing proximal epiphysis of middle phalanx of manual digit 2 A proximal epiphysis that is part of a middle phalanx of manual digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of middle phalanx of second digit of hand|proximal epiphysis of middle phalanx of manual digit II|base of middle phalanx of second finger|base of middle phalanx of index finger|proximal epiphysis of middle phalanx of index finger|basal epiphysis of middle phalanx of index finger FMA:37502 uberon owl:Class UBERON:0004418 biolink:NamedThing proximal epiphysis of phalanx of manual digit 2 A proximal epiphysis that is part of a manual digit 2 phalanx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of phalanx of index finger|base of phalanx of second finger|basal epiphysis of phalanx of index finger|base of phalanx of second digit of hand|proximal epiphysis of phalanx of manual digit 2|proximal epiphysis of phalanx of index finger|proximal epiphysis of phalanx of manual digit II FMA:37498 uberon owl:Class HP:0011154 biolink:NamedThing Focal autonomic seizure An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature. tmpxe7fu0cj_hp_relaxed.owl Focal autonomic seizures UMLS:C4023509 Focal seizures with a subjective or objectively documented alteration of autonomic nervous system function at onset, involving but not limited to, cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor and thermoregulatory functions. Focal autonomic seizure is not a child of Epileptic aura (HP:0033348) as many Focal autonomic seizures are not purely subjective (required to be called an aura). peter 2011-10-18T02:23:31Z HP:0011164 owl:Class GO:0031981 biolink:NamedThing nuclear lumen The volume enclosed by the nuclear inner membrane. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:0070013 biolink:NamedThing intracellular organelle lumen An organelle lumen that is part of an intracellular organelle. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0003235 biolink:NamedThing Hypermethioninemia An increased concentration of methionine in the blood. tmpxe7fu0cj_hp_relaxed.owl Methioninemia|Increased methionine in blood SNOMEDCT_US:43123004|SNOMEDCT_US:124283007|UMLS:C0268621|SNOMEDCT_US:57835009|MSH:C564683 Elevated blood methionine levels in the range of 500-2000 micromolar. human_phenotype owl:Class HP:0010901 biolink:NamedThing Abnormal circulating methionine concentration Any deviation from the normal concentration of methionine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of methionine metabolism UMLS:C4023665 peter 2010-12-02T05:15:22Z human_phenotype owl:Class HP:0031831 biolink:NamedThing Decreased serum zinc A reduced concentration of zinc in the blood. tmpxe7fu0cj_hp_relaxed.owl 2018-05-04 02:05:49+00:00 peter owl:Class HP:0008277 biolink:NamedThing Abnormal blood zinc concentration An abnormality of zinc ion homeostasis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of zinc homeostasis|Abnormal zinc metabolism UMLS:C4020802|UMLS:C4024711 human_phenotype owl:Class HP:0008767 biolink:NamedThing Self-mutilation of tongue and lips due to involuntary movements tmpxe7fu0cj_hp_relaxed.owl Self-mutilation of tongue and lips due to involuntary movements UMLS:C1860219 human_phenotype owl:Class HP:0004305 biolink:NamedThing Involuntary movements Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. tmpxe7fu0cj_hp_relaxed.owl Involuntary movements|Involuntary muscle contractions SNOMEDCT_US:102542000|UMLS:C0235086 peter 2008-02-20T12:18:00Z HP:0007120 human_phenotype owl:Class UBERON:0009670 biolink:NamedThing rectal lumen An anatomical space that surrounded_by a rectum. tmpxe7fu0cj_hp_relaxed.owl lumen of rectum EHDAA2:0004587|FMA:14598|EMAPA:18388 uberon owl:Class GO:0050709 biolink:NamedThing negative regulation of protein secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a protein from a cell. tmpxe7fu0cj_hp_relaxed.owl inhibition of protein secretion|down regulation of protein secretion|downregulation of protein secretion|down-regulation of protein secretion biological_process owl:Class GO:0051224 biolink:NamedThing negative regulation of protein transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl inhibition of protein transport|down-regulation of protein transport|down regulation of protein transport|downregulation of protein transport biological_process owl:Class HP:0005295 biolink:NamedThing Pseudocoarctation of the aorta Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0345088|SNOMEDCT_US:70602002 Note that the ligamentum arteriosum, which develops from the ductus arteriosus, is attached to the superior surface of the pulmonary artery and the inferior surface of the aortic arch. human_phenotype owl:Class UBERON:0001681 biolink:NamedThing nasal bone One of two small oblong bones, varying in size and form in different individuals; they are placed side by side at the middle and upper part of the face, and form, by their junction, 'the bridge' of the nose[WP]. Paired dermal bones, likened to a bone tube, positioned lateral to the supraethmoid. Nasal bones are transversed by the anterior most part of the supraorbital canals and bear one neuromast foramen in zebrafish[ZFA]. tmpxe7fu0cj_hp_relaxed.owl os nasale|nasal bones|nasals EMAPA:19202|TAO:0000365|UMLS:C0027422|MA:0001494|AAO:0000312|FMA:52745|VHOG:0001370|GAID:222|ZFA:0000365|MESH:D009295|OpenCyc:Mx4rwGOTZJwpEbGdrcN5Y29ycA|NCIT:C33157 http://upload.wikimedia.org/wikipedia/commons/7/77/Illu_facial_bones.jpg uberon owl:Class Paired dermal bones, likened to a bone tube, positioned lateral to the supraethmoid. Nasal bones are transversed by the anterior most part of the supraorbital canals and bear one neuromast foramen in zebrafish Cubbage and Mabee, 1996.[TAO]|Paired bone of intramembranous origin that roofs the olfactory capsule.[AAO] relationship loss: part_of braincase and otic capsule skeleton (AAO:0000052)[AAO]|relationship loss: overlaps mesethmoid-nasal joint (TAO:0001677)[TAO] Synonym adnasal used in Weitzman 1960, and synonym discussed in Vari 1995.[TAO] In primitive bony fish and tetrapods, the nasal bones are the most anterior of a set of four paired bones forming the roof of the skull, being followed in sequence by the frontals, the parietals, and the postparietals. Their form in living species is highly variable, depending on the shape of the head, but they generally form the roof of the snout or beak, running from the nostrils to a position short of the orbits. In most animals, they are generally therefore proportionally larger than in humans or great apes, because of the shortened faces of the latter. Turtles, unusually, lack nasal bones, with the prefrontal bones of the orbit reaching all the way to the nostrils (ISBN 0-03-910284-X) HP:0012718 biolink:NamedThing Morphological abnormality of the gastrointestinal tract Abnormal structure of the gastrointestinal tract. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of the digestive system|Morphological anomaly of the digestive system|Morphological abnormality of the GI tract UMLS:C4021073 peter 2014-03-23T01:09:02Z human_phenotype owl:Class HP:0025033 biolink:NamedThing Abnormality of digestive system morphology A structural anomaly of the digestive system. tmpxe7fu0cj_hp_relaxed.owl 2016-08-27 13:58:23+00:00 HPO:probinson owl:Class HP:0005335 biolink:NamedThing Sleepy facial expression tmpxe7fu0cj_hp_relaxed.owl Somnolent facial expression|Sleepy facial expression UMLS:C4025214 human_phenotype owl:Class HP:0005324 biolink:NamedThing Disturbance of facial expression An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. tmpxe7fu0cj_hp_relaxed.owl Disturbance of facial expression UMLS:C4025215 human_phenotype owl:Class GO:0034329 biolink:NamedThing cell junction assembly A cellular process that results in the aggregation, arrangement and bonding together of a set of components to form a cell junction. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0045187 biolink:NamedThing regulation of circadian sleep/wake cycle, sleep Any process that modulates the frequency, rate or extent of sleep; a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. tmpxe7fu0cj_hp_relaxed.owl regulation of sleep biological_process owl:Class HP:0410074 biolink:NamedThing Increased level of xylitol in urine An increase in the level of xylitol in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-01-30 00:49:41+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0032764 biolink:NamedThing Focal autonomic seizure with erection A type of focal autonomic seizure characterised by penile erection as the intial semiological feature. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class MAXO:0010200 biolink:NamedThing transabdominal ultrasonography A method of ultrasound imaging in which the ultrasound probe is pressed against the skin of the abdomen in order to create an image of the abdominal organs. tmpxe7fu0cj_hp_relaxed.owl diagnostic transabdominal ultrasound|TUS|abdomen diagnostic sonography|abdomen ultrasound procedure|abdomen sonography|transabdominal ultrasound|abdomen ultrasound examination|ultrasonography of abdomen|abdomen ultrasound imaging procedure|transabdominal sonography|sonography of abdomen|abdomen medical ultrasound|medical transabdominal ultrasound 2020-01-24T20:39:14Z NCIT:C71375 http://orcid.org/0000-0001-7941-2961 owl:Class HP:0008964 biolink:NamedThing Nonprogressive muscular atrophy Muscular atrophy that does not display a progression in severity with time. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024611 human_phenotype owl:Class HP:0003202 biolink:NamedThing Skeletal muscle atrophy The presence of skeletal muscular atrophy (which is also known as amyotrophy). tmpxe7fu0cj_hp_relaxed.owl Neurogenic muscle atrophy, especially in the lower limbs|Amyotrophy|Muscular atrophy|Muscle atrophy, neurogenic|Muscle degeneration|Neurogenic muscular atrophy|Neurogenic muscle atrophy|Muscle atrophy|Muscle wasting|Amyotrophy involving the extremities|Muscle hypotrophy MSH:D009133|UMLS:C0541794|UMLS:C0270948|UMLS:C0234958|SNOMEDCT_US:74035001|UMLS:C1843479 HP:0006995|HP:0009010|HP:0003702|HP:0009048|HP:0007171|HP:0001299|HP:0100868|HP:0003545|HP:0003746|HP:0003671|HP:0007356 human_phenotype owl:Class PATO:0002037 biolink:NamedThing degeneration A structural quality inhering in a bearer by virtue of the bearer exhibiting deterioration of its structure. tmpxe7fu0cj_hp_relaxed.owl 2009-02-03T11:13:19Z quality owl:Class UBERON:0004321 biolink:NamedThing middle phalanx of manual digit 3 A middle phalanx that is part of a hand digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl third middle phalanx of hand|3rd digit of hand middle phalanx|third finger intermediate phalanx|intermediate phalanx of 3rd finger|middle phalanx of 3rd finger|hand digit 3 middle phalanx|middle phalanx of middle finger|forelimb digit III P2|intermediate phalanx of 3rd digit of hand|forelimb short pastern bone|third finger middle phalanx|intermediate phalanx of third finger|3rd digit of hand intermediate phalanx|3rd finger middle phalanx|middle phalanx of 3rd digit of hand|middle phalanx of manual digit III|intermediate phalanx of hand digit 3|3rd finger intermediate phalanx|middle phalanx of third finger|middle phalanx of third digit of hand|hand digit 3 intermediate phalanx FMA:23934 uberon owl:Class UBERON:0003864 biolink:NamedThing middle phalanx of manus A middle phalanx that is part of a finger [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl middle manual phalanx|middle phalanx of hand|middle phalanx of manual digit|middle phalanx of finger|phalanx media manus|hand middle phalanx EMAPA:37306|NCIT:C12863|MA:0001394|UMLS:C0223828|FMA:75817 uberon owl:Class GO:0001101 biolink:NamedThing response to acid chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by the chemical structure of the anion portion of a dissociated acid (rather than the acid acting as a proton donor). The acid chemical may be in gaseous, liquid or solid form. tmpxe7fu0cj_hp_relaxed.owl response to acid anion|response to acid|response to oxoanion This term should be used to describe a response to a specific acid as a chemical. E.g., if an organism were responding to glutamate, then the response would be glutamate-specific; the organism is actually responding to the chemical structure of the anion portion of the dissociated acid. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. If annotating experiments where an acid is playing a role as a proton donor, please annotate to GO:0010447 'response to acidic pH' instead. biological_process owl:Class HP:0100379 biolink:NamedThing Aplasia of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Absent outermost bone of the 4th toe|Absent distal phalanx of the 4th toe UMLS:C4022113 human_phenotype owl:Class HP:0010645 biolink:NamedThing Aplasia of the distal phalanges of the toes Absence of the distal phalanges of the toes. tmpxe7fu0cj_hp_relaxed.owl Absent outermost bone of the toes UMLS:C4023761 peter 2010-02-17T02:41:47Z human_phenotype owl:Class HP:0006446 biolink:NamedThing Dysplastic patella tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849580 human_phenotype owl:Class HP:0032005 biolink:NamedThing Hemidystonia Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg. tmpxe7fu0cj_hp_relaxed.owl 2018-07-17 12:51:59+00:00 In most cases of hemidystonia, a contralateral structural lesion of the basal ganglia or thalamus can be demonstrated by neuroimaging. Common aetiologies include stroke and trauma, and younger patients seem to have a greater propensity to develop hemidystonia after cerebral insults. There is often a latency between cerebral injury and the onset of dystonia. Hemidystonia may be preceded by ipsilateral hemiparesis which often resolves as hemidystonia develops. peter owl:Class UBERON:0004211 biolink:NamedThing nephron epithelium The nephron epithelium is a tissue that covers the surface of a nephron. tmpxe7fu0cj_hp_relaxed.owl epithelium of nephron|epithelial tissue of nephron|nephron epithelial tissue uberon owl:Class UBERON:0004819 biolink:NamedThing kidney epithelium The cellular avascular layer of the kidney luminar surfaces. tmpxe7fu0cj_hp_relaxed.owl kidney epithelial tissue|epithelial tissue of kidney|epithelium of kidney|renal epithelium BTO:0000059|CALOHA:TS-0505|MA:0002846|EMAPA:35457 uberon owl:Class HP:5000023 biolink:NamedThing Anti-Ma1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1. tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-3387-1836 owl:Class HP:5000021 biolink:NamedThing Anti-Ma antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma. tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-3387-1836 owl:Class HP:0032598 biolink:NamedThing Blebbing of apical cytoplasm of renal tubular epithelial cells Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0009788 biolink:NamedThing Quadriceps aplasia Absence of the quadriceps muscle. tmpxe7fu0cj_hp_relaxed.owl Absent quads UMLS:C3805765 peter 2009-02-03T05:18:11Z human_phenotype owl:Class HP:0009787 biolink:NamedThing Aplasia/Hypoplasia of the quadriceps Absence or underdevelopment of the quadriceps muscle. tmpxe7fu0cj_hp_relaxed.owl Absent/small quadriceps|Absent/underdeveloped quadriceps UMLS:C4024206 peter 2009-02-03T05:17:40Z human_phenotype owl:Class HP:0000250 biolink:NamedThing Dense calvaria An abnormal increase of density of the bones making up the calvaria. tmpxe7fu0cj_hp_relaxed.owl Dense skull cap UMLS:C1854834 human_phenotype owl:Class UBERON:0004499 biolink:NamedThing skeletal muscle tissue of tibialis anterior A portion of skeletal muscle tissue that is part of a tibialis anterior [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:262004 uberon owl:Class GO:0046916 biolink:NamedThing cellular transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0055082 biolink:NamedThing cellular chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0008490 biolink:NamedThing Sacral segmentation defect tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850329 human_phenotype owl:Class GO:0006859 biolink:NamedThing extracellular carbohydrate transport The directed extracellular movement of carbohydrates. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0006858 biolink:NamedThing extracellular transport The transport of substances that occurs outside cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0410276 biolink:NamedThing Supraumbilical raphe An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button). tmpxe7fu0cj_hp_relaxed.owl Midline supraumbilical raphe 2018-10-30 18:16:55+00:00 owl:Class UBERON:0004980 biolink:NamedThing mucosa of ureter A mucosa that is part of a ureter [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl tunica mucosa ureteris|ureter mucosa|ureter organ mucosa|ureter mucosa of organ|organ mucosa of ureter|ureter mucous membrane|mucosal layer of ureter|mucosa of organ of ureter|ureteral mucosa|tunica mucosa (ureter)|mucous membrane of ureter|ureteric mucosa FMA:15894|galen:MucousMembraneOfUreter uberon owl:Class CL:0007004 biolink:NamedThing premigratory neural crest cell Cell that is part of the neural crest region of the neuroepithelium, prior to migration. Note that not all premigratory neural crest cells may become migratory neural crest cells. tmpxe7fu0cj_hp_relaxed.owl haendel 2012-06-27T08:27:35Z cell owl:Class CL:0011012 biolink:NamedThing neural crest cell A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class GO:1904269 biolink:NamedThing cell leading edge cell cortex The cell cortex of the leading edge of a cell. tmpxe7fu0cj_hp_relaxed.owl cell periphery of front of cell|cell periphery of cell leading edge|cell cortex of cell leading edge|peripheral cytoplasm of leading edge of cell|cell cortex of leading edge of cell|cell cortex of front of cell|cell periphery of leading edge of cell|peripheral cytoplasm of cell leading edge|peripheral cytoplasm of front of cell kmv 2015-05-28T19:16:03Z cellular_component owl:Class GO:0099738 biolink:NamedThing cell cortex region The complete extent of cell cortex that underlies some some region of the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl perimembrane region cellular_component owl:Class GO:1902622 biolink:NamedThing regulation of neutrophil migration Any process that modulates the frequency, rate or extent of neutrophil migration. tmpxe7fu0cj_hp_relaxed.owl sl 2014-01-15T18:58:39Z biological_process owl:Class GO:0031099 biolink:NamedThing regeneration The regrowth of a lost or destroyed body part, such as an organ or tissue. This process may occur via renewal, repair, and/or growth alone (i.e. increase in size or mass). tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Regeneration_(biology) biological_process owl:Class HP:0009818 biolink:NamedThing Amelia involving the lower limbs Amelia of one or both legs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024197 doelkens 2009-02-23T05:11:07Z human_phenotype owl:Class HP:0000278 biolink:NamedThing Retrognathia An abnormality in which the mandible is mislocalised posteriorly. tmpxe7fu0cj_hp_relaxed.owl Receding lower jaw|Lower jaw retrognathia|Retrogenia|Weak jaw|Receding chin|Retrognathia of lower jaw|Receding mandible|Weak chin MSH:D063173|UMLS:C3494422 HP:0002954|HP:0002053 human_phenotype owl:Class NCBITaxon:9747 biolink:NamedThing Monodontidae tmpxe7fu0cj_hp_relaxed.owl owl:Class NCBITaxon:9722 biolink:NamedThing Odontoceti tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0005287 biolink:NamedThing tela choroidea of fourth ventricle Tela chorioidea that lines the fourth ventricle[ZFA]. The tela chorioidea of the fourth ventricle is the name applied to the triangular fold of pia mater which is carried upward between the cerebellum and the medulla oblongata. It consists of two layers, which are continuous with each other in front, and are more or less adherent throughout: The posterior layer covers the antero-inferior surface of the cerebellum. The anterior layer is applied to the structures which form the lower part of the roof of the ventricle, and is continuous inferiorly with the pia mater on the inferior peduncles and closed part of the medulla[WP]. tmpxe7fu0cj_hp_relaxed.owl tela choroidea fourth ventricle|tela choroidea ventriculi quarti|tela chorioidea fourth ventricle|tela choroidea of fourth ventricle|choroid membrane|choroid membrane of fourth ventricle|tela choroidea TAO:0005158|FMA:78493|BAMS:tc4v|ZFA:0005158 uberon owl:Class Tela chorioidea that lines the fourth ventricle.[TAO] HP:0030883 biolink:NamedThing Femoroacetabular impingement Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis. tmpxe7fu0cj_hp_relaxed.owl Femoral acetabular impingement SNOMEDCT_US:432473000|MSH:D057925|UMLS:C2936290 owl:Class HP:0001384 biolink:NamedThing Abnormal hip joint morphology An abnormality of the hip joint. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the hip joint|Abnormality of the hip joints UMLS:C4020870 owl:Class HP:0032184 biolink:NamedThing Increased proportion of memory T cells An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased proportion of CD4+CD29+ cells 2019-01-12 14:37:08+00:00 peter owl:Class HP:0032182 biolink:NamedThing Abnormal proportion of memory T cells An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response. tmpxe7fu0cj_hp_relaxed.owl Abnormal proportion of CD4+CD29+ cells 2019-01-12 14:32:15+00:00 peter owl:Class HP:3000025 biolink:NamedThing Abnormality of ciliary ganglion An abnormality of a ciliary ganglion. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073234 vasilevs 2015-08-07T00:16:07Z human_phenotype owl:Class HP:0410016 biolink:NamedThing Abnormality of cranial ganglion An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073195 owl:Class CHEBI:50340 biolink:NamedThing 3-carbamimidamidopropyl group tmpxe7fu0cj_hp_relaxed.owl arginine side-chain|3-guanidinopropyl|3-carbamimidamidopropyl|3-(carbamimidoylamino)propyl 0 C4H10N3 100.14242 100.08747 NC(=N)NCCC* chebi_ontology owl:Class CHEBI:50325 biolink:NamedThing proteinogenic amino-acid side-chain group A univalent organyl group obtained by cleaving the bond from C-2 to the side chain of a proteinogenic amino-acid. tmpxe7fu0cj_hp_relaxed.owl proteinogenic amino-acid side-chain groups|proteinogenic amino-acid side-chain|canonical amino-acid side-chain|canonical amino-acid side-chains|proteinogenic amino-acid side-chains chebi_ontology owl:Class UBERON:0004874 biolink:NamedThing somatopleure A structure created during embryogenesis when the lateral mesoderm splits into two layers - the outer (or somatic) layer becomes applied to the inner surface of the ectoderm, and with it forms the somatopleure.[WP]. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001847|FMA:295566|NCIT:C34301|EMAPA:16180|EHDAA:381|UMLS:C1519423|VHOG:0000557 http://upload.wikimedia.org/wikipedia/commons/2/28/Gray16.png uberon owl:Class Gives rise to the paired appendages in jawed vertebrates. a persistent somatopleure through the redistribution and expansion of the lateral plate mesoderm is a synapomorphy for gnathostomes and a critical step in generating a novel developmental module with dramatic evolutionary potentia (Tulenko et al. 2012) http://burkelab.research.wesleyan.edu/current-projects/lamprey/ sources differ as to whether this is part-of or develops-from the LPM UBERON:0004734 biolink:NamedThing gastrula Organism at the gastrula stage. tmpxe7fu0cj_hp_relaxed.owl trilaminar blastocyst|trilaminar disc|trilaminar germ|trilaminar disk|trilaminar blastoderm|blastocystis trilaminaris|tri-laminar disk|tri-laminar disc|gastrula embryo Wikipedia:Gastrula|Wikipedia:Trilaminar_blastocyst|BILA:0000060|MIAA:0000179|FMA:293108|MESH:A16.254.412|GAID:1302|UMLS:C1284022|FBbt:00005317|UMLS:C0017199|NCIT:C34058|BTO:0001403|NCIT:C34057 UBERON:0007012 uberon owl:Class We explicitly merge the NCITA terms here UBERON:0000922 biolink:NamedThing embryo Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. tmpxe7fu0cj_hp_relaxed.owl developing organism|developmental tissue|embryonic organism Wikipedia:Embryo|OGEM:000001|CALOHA:TS-0229|FMA:69068|VHOG:0001766|EHDAA:38|EHDAA2:0000002|OpenCyc:Mx4rwP1ceZwpEbGdrcN5Y29ycA|MIAA:0000019|MESH:D004622|FBbt:00000052|MAT:0000226|EFO:0001367|BTO:0000379|SCTID:57991002|AAO:0011035|EMAPA:16039|AEO:0000169|BSA:0000039|http://neurolex.org/wiki/Category:Embryonic_organism|EHDAA2_RETIRED:0003236|ZFA:0000103|NCIT:C28147|UMLS:C0013935|GAID:963|BILA:0000056|XAO:0000113 Wrinkledfrog:embryos.jpg uberon https://github.com/obophenotype/uberon/issues/503 owl:Class embryonic Obsoleted in ZFA. Note that embryo is not classified as an embryonic structure - an embryonic structure is only the parts of an embryo HP:0032896 biolink:NamedThing Music-induced seizure Seizure precipitated by listening to music or other complex sounds. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0020207 biolink:NamedThing Reflex seizure Seizures precipitated by exogenous stimuli. tmpxe7fu0cj_hp_relaxed.owl Included in 2001 ILAE Proposed Classification of Seizures. Seizures precipitated by fever, head injury, or alcohol withdrawal or anti-epileptic medication withdrawal are not provoked seizures. robinp 2020-02-24 13:36:35+00:00 owl:Class GO:0060454 biolink:NamedThing positive regulation of gastric acid secretion Any process that increases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0060453 biolink:NamedThing regulation of gastric acid secretion Any process that modulates the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010139 biolink:NamedThing Bracket epiphysis of the distal phalanx of the hallux The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the outermost bone of big toe UMLS:C4024020 doelkens 2009-05-29T01:22:47Z human_phenotype owl:Class HP:0003286 biolink:NamedThing Cystathioninemia An increased concentration of cystathionine in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood cystathionine levels UMLS:C0268618|SNOMEDCT_US:6669004 Cystathionine can be directly interconverted to cysteine. Cystathionine is not normally detectable in plasma. human_phenotype owl:Class HP:0033108 biolink:NamedThing Abnormal circulating proteinogenic amino acid derivative concentration Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid. tmpxe7fu0cj_hp_relaxed.owl 2020-08-29 12:01:40+00:00 peter owl:Class HP:0410392 biolink:NamedThing Increased proportion of CD8-positive, alpha-beta memory T cells An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0410380 biolink:NamedThing Abnormal proportion of CD8-positive, alpha-beta memory T cells An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. tmpxe7fu0cj_hp_relaxed.owl Human CD8+T cells are commonly classified into four subsets based on the surface expression of the leukocyte common antigen isoform CD45RA and the lymph node addressin CCR7. Thereby, naive TN cells (CD45RA+/CCR7+) are separated from central memory TCM (CD45RA-/CCR7+), effector memory TEM (CD45RA-/CCR7-) and TEMRA (CD45RA+/CCR7-) T cells. owl:Class CHEBI:33672 biolink:NamedThing heterobicyclic compound A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom. tmpxe7fu0cj_hp_relaxed.owl heterobicyclic compounds chebi_ontology owl:Class UBERON:0001448 biolink:NamedThing metatarsal bone The metatarsus or metatarsal bones are a group of five long bones in the pes located between the tarsal bones of the hind- and mid-pes and the phalanges of the toes. Lacking individual names, the metatarsal bones are numbered from the medial side (side of big toe): the first, second, third, fourth, and fifth metatarsal. The metatarsals are analogous to the metacarpal bones of the manus. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl ossa metatarsalia|ossa metatarsi|metatarsal galen:Metatarsal|MA:0000303|FMA:24492|EMAPA:32940|GAID:193|BTO:0002347|EMAPA:36159|NCIT:C12752|UMLS:C0025584|MESH:A02.835.232.300.492 http://upload.wikimedia.org/wikipedia/commons/5/52/Gray291.png uberon owl:Class UBERON:0015036 biolink:NamedThing pedal digit metatarsal endochondral element A pedal digit metatarsal bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl pedal digit metatarsal element|pedal digit metatarsal skeletal element uberon owl:Class HP:0032234 biolink:NamedThing Increased circulating creatine kinase MM isoform An increased concentration of the MM isoform of creatine kinase in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased circulating CK MM isoform 2019-01-26 17:12:03+00:00 All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury. peter owl:Class HP:0040081 biolink:NamedThing Abnormal circulating creatine kinase concentration Any deviation from the normal circulating creatine kinase concentration. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating CK concentration|Abnormal levels of creatine kinase in blood|Abnormal circulation phospho-CK concentration|Abnormal circulating CPK concentration UMLS:C4022449 HPO:skoehler owl:Class HP:0005599 biolink:NamedThing Hypopigmentation of hair tmpxe7fu0cj_hp_relaxed.owl Hair hypopigmentation|Loss of hair color|Loss of hair colour UMLS:C3278401 owl:Class HP:0009887 biolink:NamedThing Abnormality of hair pigmentation An abnormality of hair pigmentation (color). tmpxe7fu0cj_hp_relaxed.owl Abnormality of hair colour|Abnormality of hair pigmentation|Abnormality of hair color UMLS:C4024172 peter 2009-04-30T06:00:53Z human_phenotype owl:Class UBERON:0006215 biolink:NamedThing rhombic lip The posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system. tmpxe7fu0cj_hp_relaxed.owl dorsal part of alar plate of metencephalon|presumptive cerebellum|cerebellar anlage|cerebellar primordium|cerebellum primordium|rostral rhombic lip|future cerebellum XAO:0004135|ZFA:0001440|TAO:0001440|DHBA:10664|EMAPA:17074|EHDAA2:0000231 UBERON:0013163 uberon owl:Class The interface between the dorsal neuroepithelium and the roofplate of the fourth ventricle. The source of a number of migratory neuron populations of the hindbrain.[TAO] HP:0100887 biolink:NamedThing Abnormality of globe size An abnormality in the size of the ocular globe (eyeball). tmpxe7fu0cj_hp_relaxed.owl Eye size difference|Abnormality of eyeball size UMLS:C4021945 doelkens 2011-12-13T04:25:29Z HP:0010725 human_phenotype owl:Class HP:0012372 biolink:NamedThing Abnormal eye morphology A structural anomaly of the globe of the eye, or bulbus oculi. tmpxe7fu0cj_hp_relaxed.owl Abnormally shaped eye|Abnormal eye structure|Abnormality of the globe Fyler:4863|UMLS:C4022925 previously: Abnormal globe morphology peter 2013-10-13T03:44:43Z HP:0012374|HP:0000489 owl:Class GO:0010714 biolink:NamedThing positive regulation of collagen metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the metabolism of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. tmpxe7fu0cj_hp_relaxed.owl positive regulation of collagen metabolism biological_process owl:Class HP:0100065 biolink:NamedThing Triangular epiphyses of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the 3rd toe bone UMLS:C4022356 doelkens 2010-06-24T09:58:55Z human_phenotype owl:Class HP:0032649 biolink:NamedThing Skewfoot A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus. tmpxe7fu0cj_hp_relaxed.owl Skew foot|Skew-foot Operative indications include pain, intractable calluses, and shoe and orthotic problems. peter owl:Class HP:0001763 biolink:NamedThing Pes planus A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. tmpxe7fu0cj_hp_relaxed.owl Flat foot|Fallen arches|Flat feet|Dropped arches UMLS:C0016202|MSH:D005413|SNOMEDCT_US:53226007|UMLS:C0264133|SNOMEDCT_US:203534009 'has part' some (flat and ('inheres in' some 'Longitudinal arch of foot (adult human)') and ('has modifier' some abnormal)) human_phenotype owl:Class UBERON:0004066 biolink:NamedThing frontonasal prominence The unpaired embryonic prominence that is formed by the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout. tmpxe7fu0cj_hp_relaxed.owl prominentia frontonasalis|forebrain prominence|frontonasal process|frontonasal mass|embryonic frontonasal prominence EHDAA2:0000578|EHDAA:4778|FMA:293101|NCIT:C34182|UMLS:C1517321|EMAPA:16681|VHOG:0001319 http://upload.wikimedia.org/wikipedia/commons/9/98/Gray44.png UBERON:0006237 uberon owl:Class UBERON:0009292 biolink:NamedThing embryonic nasal process tmpxe7fu0cj_hp_relaxed.owl nasal placode EMAPA:16680|EHDAA2:0000581|FMA:293971|EHDAA:4776 uberon owl:Class medial or lateral; in EHDAA2 also frontonasal or intermaxillary UBERON:0036186 biolink:NamedThing fibroelastic connective tissue tmpxe7fu0cj_hp_relaxed.owl FMA:83520 uberon owl:Class CHEBI:35352 biolink:NamedThing organonitrogen compound Any heteroorganic entity containing at least one carbon-nitrogen bond. tmpxe7fu0cj_hp_relaxed.owl organonitrogens|organonitrogen compounds chebi_ontology owl:Class CHEBI:33285 biolink:NamedThing heteroorganic entity A heteroorganic entity is an organic molecular entity in which carbon atoms or organic groups are bonded directly to one or more heteroatoms. tmpxe7fu0cj_hp_relaxed.owl organoelement compounds|heteroorganic entities chebi_ontology owl:Class GO:0010634 biolink:NamedThing positive regulation of epithelial cell migration Any process that activates or increases the frequency, rate or extent of epithelial cell migration. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010233 biolink:NamedThing Irregular epiphyses of the phalanges of the hand Irregular radiographic opacity of the epiphyses of the phalanges of the fingers. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of finger bones|Irregular epiphyses of the fingers UMLS:C4021307 doelkens 2009-07-06T03:31:52Z HP:0009364 human_phenotype owl:Class HP:0003842 biolink:NamedThing Irregular epiphyses of the upper limbs tmpxe7fu0cj_hp_relaxed.owl Irregular end part of upper limb bones UMLS:C4025558 human_phenotype owl:Class UBERON:0002809 biolink:NamedThing right temporal lobe A temporal lobe that is part of a right cerebral hemisphere. tmpxe7fu0cj_hp_relaxed.owl BIRNLEX:1785|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rwQLi-ZwpEbGdrcN5Y29ycA|UMLS:C1281970|FMA:72971 uberon owl:Class UBERON:0001871 biolink:NamedThing temporal lobe Lower lateral part of the cerebral hemisphere. (MSH). tmpxe7fu0cj_hp_relaxed.owl lobus temporalis|temporal cortex NCIT:C12353|BTO:0001355|EV:0100169|MAT:0000508|BAMS:TL|BAMS:Temporal_lobe|FMA:61825|CALOHA:TS-1020|BIRNLEX:1160|MESH:A08.186.211.730.885.213.863|UMLS:C0039485|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=125|EMAPA:18797|GAID:635|UMLS:C1268978|HBA:4132|DHBA:12139|EFO:0000917|OpenCyc:Mx4rwQLi-ZwpEbGdrcN5Y29ycA Boundary notes: It is bounded dorsally by the lateral fissure and posteriorly by an arbitrary border shared with the occipital lobe. [Wikipedia:Temporal_lobe] http://upload.wikimedia.org/wikipedia/commons/9/91/Gray730.png uberon owl:Class HP:0033554 biolink:NamedThing Anti-Mi2 antibody positivity The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen. tmpxe7fu0cj_hp_relaxed.owl 2021-01-23 11:39:19+00:00 The Mi-2 antigen is a nuclear antigen, component of the Nucleosome Remodelling-Deacetylase (NuRD) complex involved in transcription regulation. Autoantibodies targeting the Mi-2 nuclear antigen are a serologic hallmark of idiopathic inflammatory myopathies, with a diagnostic sensitivity and specificity of approximately 4-18% and 98-100%, respectively. They are most strongly associated with dermatomyositis and correlate with HLA-DR7. peter owl:Class HP:0001465 biolink:NamedThing Amyotrophy involving the shoulder musculature tmpxe7fu0cj_hp_relaxed.owl Wasting of shoulder muscles|Shoulder muscle degeneration UMLS:C4025771 peter 2008-04-07T10:50:00Z human_phenotype owl:Class HP:0001435 biolink:NamedThing Abnormality of the shoulder girdle musculature tmpxe7fu0cj_hp_relaxed.owl Abnormality of shoulder musculature UMLS:C4021778 peter 2008-04-07T10:19:00Z HP:0004301 human_phenotype owl:Class CHEBI:17761 biolink:NamedThing ceramide Ceramides (N-acyl-sphingoid bases) are a major subclass of sphingoid base derivatives with an amide-linked fatty acid. The fatty acids are typically saturated or monounsaturated with chain lengths from 14 to 26 carbon atoms; the presence of a hydroxyl group on carbon 2 is fairly common. Ceramides are generally precursors of more complex sphingolipids. In the illustrated generalised structure, R(1) = OH, OX (where X = acyl, glycosyl, phosphate, phosphonate, etc.), or H. tmpxe7fu0cj_hp_relaxed.owl Ceramide|a ceramide|Cer|N-acylated sphingoid|ceramides 0 C4H6NO2R3 100.09590 100.03985 O[C@H]([*])[C@H](C[*])NC([*])=O PMID:7542630|KEGG:C00195|LIPID_MAPS_class:LMSP02|Wikipedia:Ceramide CHEBI:23074|CHEBI:12487|CHEBI:13954|CHEBI:7242 chebi_ontology owl:Class HP:0012681 biolink:NamedThing Abnormal pineal morphology A structural abnormality of the pineal gland. tmpxe7fu0cj_hp_relaxed.owl Abnormality of pineal morphology UMLS:C4022782 The pineal gland typically measures 7 x 6 x 3mm in size and is located in a groove between the laterally placed thalamic bodies. peter 2014-03-22T12:50:21Z owl:Class HP:0012318 biolink:NamedThing Occipital neuralgia A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:71760005|UMLS:C0007863 Typically, the pain of occipital neuralgia begins at the base of the head and spreads upward within the distribution of the greater and lesser occipital nerves. Characteristically, it is neuropathic, with paroxysmal episodes of shooting electric shock-like symptoms. peter 2013-08-10T01:07:45Z owl:Class CHEBI:52210 biolink:NamedThing pharmacological role A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class GO:0110058 biolink:NamedThing positive regulation of blood vessel endothelial cell differentiation Any process that activates or increases the frequency, rate or extent of blood vessel endothelial cell differentiation. tmpxe7fu0cj_hp_relaxed.owl kmv 2017-10-23T14:38:19Z biological_process owl:Class HP:0004784 biolink:NamedThing Juvenile gastrointestinal polyposis The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps. tmpxe7fu0cj_hp_relaxed.owl Juvenile GI polyposis UMLS:C4025294 human_phenotype owl:Class HP:0004390 biolink:NamedThing Hamartomatous polyposis Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture. tmpxe7fu0cj_hp_relaxed.owl Hamartomatous polyps|Gastrointestinal hamartoma|Gastrointestinal hamartomatous polyps UMLS:C3277418|SNOMEDCT_US:27391005|UMLS:C0334092 Patients with Cowden-Syndrom for example often have multiple hamartomatous gastrointestinal polyps. peter 2008-03-18T09:04:00Z human_phenotype owl:Class CHEBI:33694 biolink:NamedThing biomacromolecule A macromolecule formed by a living organism. tmpxe7fu0cj_hp_relaxed.owl biopolymers|Biopolymere|biopolymer|biomacromolecules chebi_ontology owl:Class CHEBI:50860 biolink:NamedThing organic molecular entity Any molecular entity that contains carbon. tmpxe7fu0cj_hp_relaxed.owl organic entity|organic compounds|organic molecular entities CHEBI:25700|CHEBI:33244 chebi_ontology owl:Class HP:0009531 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 2nd finger A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024305 doelkens 2009-01-16T01:12:34Z owl:Class HP:0010275 biolink:NamedThing Pseudoepiphyses of the proximal phalanges of the hand A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023926 doelkens 2009-07-06T04:25:12Z owl:Class HP:0006587 biolink:NamedThing Straight clavicles An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved . tmpxe7fu0cj_hp_relaxed.owl Straight collarbone UMLS:C4025016 owl:Class HP:3000003 biolink:NamedThing Abnormal mandibular ramus morphology An abnormality of a mandibular ramus. tmpxe7fu0cj_hp_relaxed.owl Abnormality of mandibular ramus UMLS:C4073212 vasilevs 2015-02-26T03:38:57Z human_phenotype owl:Class UBERON:0011856 biolink:NamedThing acinus of lactiferous gland An acinus that is part of a mammary gland. tmpxe7fu0cj_hp_relaxed.owl lactiferous gland acinus FMA:74438 uberon owl:Class GO:0031335 biolink:NamedThing regulation of sulfur amino acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. tmpxe7fu0cj_hp_relaxed.owl regulation of sulfur amino acid metabolism biological_process owl:Class GO:0051171 biolink:NamedThing regulation of nitrogen compound metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. tmpxe7fu0cj_hp_relaxed.owl regulation of nitrogen metabolism|regulation of nitrogen metabolic process biological_process owl:Class UBERON:0000351 biolink:NamedThing nuchal ligament A fibrous membrane, which, in the neck, represents the supraspinal ligaments of the upper vertebrae. tmpxe7fu0cj_hp_relaxed.owl ligamentum nuchae|ligament of neck|paddywhack|paxwax FMA:13427|BTO:0000952|EMAPA:19207 uberon owl:Class In humans it is a tendon-like structure that has developed independently in humans and other animals well adapted for running. In some four legged animals, particularly ungulates, the nuchal ligament serves to sustain the weight of the head As it is required for running, not all animals have a nuchal ligament UBERON:0034945 biolink:NamedThing excreted gas Any gaseous product of an excretory process. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0000174 biolink:NamedThing excreta A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity. tmpxe7fu0cj_hp_relaxed.owl excreted substance|portion of excreted substance|excretion|waste substance AEO:0000184|FMA:9674|ENVO:02000022|BTO:0000491|EHDAA2_RETIRED:0003184|galen:Excretion UBERON:0000324|UBERON:0007550 uberon owl:Class UBERON:0004495 biolink:NamedThing skeletal muscle tissue of diaphragm A portion of skeletal muscle tissue that is part of a diaphragm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:261898 uberon owl:Class GO:0045799 biolink:NamedThing positive regulation of chromatin assembly or disassembly Any process that activates or increases the frequency, rate or extent of chromatin assembly or disassembly. tmpxe7fu0cj_hp_relaxed.owl up-regulation of chromatin assembly or disassembly|activation of chromatin assembly or disassembly|stimulation of chromatin assembly or disassembly|upregulation of chromatin assembly or disassembly|positive regulation of chromatin assembly/disassembly|up regulation of chromatin assembly or disassembly biological_process owl:Class GO:0001672 biolink:NamedThing regulation of chromatin assembly or disassembly Any process that modulates the frequency, rate or extent of chromatin assembly or disassembly. tmpxe7fu0cj_hp_relaxed.owl regulation of chromatin assembly/disassembly biological_process owl:Class CHEBI:133580 biolink:NamedThing N-hexanoylglycinate A monocarboxylic acid anion that is the conjugate base of N-hexanoylglycine, obtained by deprotonation of the carboxy group; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl (hexanoylamino)acetate|N-caproylglycinate|N-hexanoylglycine anion|N-hexanoylglycine|N-hexanoylglycine(1-) -1 C8H14NO3 InChI=1S/C8H15NO3/c1-2-3-4-5-7(10)9-6-8(11)12/h2-6H2,1H3,(H,9,10)(H,11,12)/p-1 UPCKIPHSXMXJOX-UHFFFAOYSA-M 172.202 172.09792 N(CC([O-])=O)C(CCCCC)=O chebi_ontology owl:Class CHEBI:57670 biolink:NamedThing N-acylglycinate A carboxylic acid anion obtained by deprotonation of the carboxy group of any N-acylglycine. tmpxe7fu0cj_hp_relaxed.owl an N-acylglycine -1 C3H3NO3R 101.06080 101.01129 [O-]C(=O)CNC([*])=O chebi_ontology owl:Class HP:0010063 biolink:NamedThing Patchy sclerosis of hallux phalanx Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in big toe bone|Patchy sclerosis of the phalanges of the hallux UMLS:C4021340 doelkens 2009-05-29T12:10:46Z owl:Class HP:0100930 biolink:NamedThing Sclerosis of hallux phalanx An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Sclerosis of the phalanges of the hallux|Increased bone density in big toe bone UMLS:C4020926 human_phenotype owl:Class HP:0500009 biolink:NamedThing Dysplastic gangliocytoma of the cerebellum It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. tmpxe7fu0cj_hp_relaxed.owl LDD|Lhermitte-Duclos disease Often associated with Cowden syndrome. owl:Class UBERON:0035398 biolink:NamedThing branch of external carotid artery tmpxe7fu0cj_hp_relaxed.owl subdivision of external carotid artery|external carotid arterial subdivision FMA:70505|SCTID:244216003|NCIT:C32552|UMLS:C0447038 uberon owl:Class HP:0033258 biolink:NamedThing Sudden unexpected death in epilepsy Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death. tmpxe7fu0cj_hp_relaxed.owl SUDEP 2020-11-28 14:34:03+00:00 peter owl:Class CHEBI:33242 biolink:NamedThing inorganic hydride tmpxe7fu0cj_hp_relaxed.owl inorganic hydrides chebi_ontology owl:Class CHEBI:33692 biolink:NamedThing hydrides Hydrides are chemical compounds of hydrogen with other chemical elements. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0100734 biolink:NamedThing Abnormality of vertebral epiphysis morphology An anomaly of one or more epiphyses of one or more vertebrae. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the vertebral epiphyses|Abnormal shape of the end part of the vertebra bone UMLS:C4020953 doelkens 2011-06-06T05:13:08Z human_phenotype owl:Class HP:0005930 biolink:NamedThing Abnormality of epiphysis morphology An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. tmpxe7fu0cj_hp_relaxed.owl Anomaly of the epiphyses|Abnormality of the epiphyses|Abnormal shape of end part of bone|Epiphyseal abnormality UMLS:C4021611 peter 2008-03-27T03:00:00Z HP:0000936 human_phenotype owl:Class HP:0025082 biolink:NamedThing Abnormal cutaneous elastic fiber morphology Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils. tmpxe7fu0cj_hp_relaxed.owl Abnormal cutaneous elastic fibre morphology 2016-10-15 12:16:20+00:00 Elastic fibers help the skin return to its normal configuration after being stretched or deformed. The elastic fibers consist of two components: microfibrils and matrix elastin. The microfibrillar component amounts to only 15% of the elastic fiber, whereas the amorphous, electron-lucid elastin makes up 85% of the fiber. In light microscope sections that are routinely stained, elastic fibers are inconspicuous. With special elastic tissue stains, such as orcein or resorcin-fuchisin, or in plastic-embedded sections they are found entwined among the collagen bundles [PMID:21738362]. HPO:probinson owl:Class HP:0200096 biolink:NamedThing Triangular-shaped open mouth A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle. tmpxe7fu0cj_hp_relaxed.owl Triangular-shaped open mouth UMLS:C1859292 sebastiankohler 2013-06-04T03:06:03Z human_phenotype owl:Class HP:0000194 biolink:NamedThing Open mouth A facial appearance characterized by a permanently or nearly permanently opened mouth. tmpxe7fu0cj_hp_relaxed.owl Gaped mouthed appearance|Open mouth appearance|Gaped jawed appearance|Open mouth|Slack jawed appearance UMLS:C0240379|SNOMEDCT_US:262016004 human_phenotype owl:Class UBERON:0007119 biolink:NamedThing neck of femur The femur neck or neck of the femur is a flattened pyramidal process of bone, connecting the femoral head with the femoral shaft, and forming with the latter a wide angle opening medialward. tmpxe7fu0cj_hp_relaxed.owl femoral neck|collum femoris|neck of the femur|femur neck NCIT:C61563|galen:NeckOfFemur|UMLS:C0015815|GAID:201|MESH:A02.835.232.500.247.510|FMA:42385 http://upload.wikimedia.org/wikipedia/commons/9/97/Gray243.png uberon owl:Class UBERON:0019198 biolink:NamedThing dorsal nerve of clitoris The deep terminal division of the pudendal nerve that runs along the dorsum of the clitoral shaft and innervates the the glans clitoris. tmpxe7fu0cj_hp_relaxed.owl nervus dorsalis clitoridis|dorsal nerve of the clitoris FMA:21870 uberon owl:Class GO:0051956 biolink:NamedThing negative regulation of amino acid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl negative regulation of amino acid transmembrane transport|downregulation of amino acid transport|down regulation of amino acid transport|inhibition of amino acid transport|down-regulation of amino acid transport biological_process owl:Class GO:0051953 biolink:NamedThing negative regulation of amine transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl inhibition of amine transport|down regulation of amine transport|down-regulation of amine transport|downregulation of amine transport biological_process owl:Class HP:0001369 biolink:NamedThing Arthritis Inflammation of a joint. tmpxe7fu0cj_hp_relaxed.owl Joint inflammation|Arthritis SNOMEDCT_US:3723001|MSH:D001168|UMLS:C0003864 human_phenotype owl:Class CHEBI:15778 biolink:NamedThing N-acyl-D-amino acid Any N-acyl-amino acid in which the amino acid moiety has D configuration. tmpxe7fu0cj_hp_relaxed.owl 0 C3H3NO3R2 101.06080 101.01129 OC(=O)[C@@H]([*])NC([*])=O CHEBI:7224|CHEBI:21631|CHEBI:12474 chebi_ontology owl:Class CL:0002659 biolink:NamedThing glandular cell of stomach A glandular epithelial cell that is part of the stomach. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-1284|FMA:86554 tmeehan 2011-07-11T01:20:35Z cell owl:Class CL:0000150 biolink:NamedThing glandular epithelial cell A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-2085|FMA:86494 cell owl:Class UBERON:0034715 biolink:NamedThing pineal tract A cranial nerve fiber tract that innervates the pineal body. tmpxe7fu0cj_hp_relaxed.owl pineal nerve FMA:77600 This should be classified as an evaginated sensory afferents rather than cranial nerves, as they are part of the CNS[ISBN:0471888893] uberon owl:Class UBERON:0005721 biolink:NamedThing pronephric mesoderm A mesoderm that has the potential to develop into a pronephros. tmpxe7fu0cj_hp_relaxed.owl pronephric primordium|pronephric mesenchyme|pronephric bulge|pronephric anlage EFO:0003479|ZFA:0000067|XAO:0000264|VHOG:0001239|TAO:0000067|AAO:0011090 the intermediate mesoderm of the chick embryo acquires its ability to form kidneys through its interactions with the paraxial mesoderm [ISBN:9780878932504 "Developmental Biology", PMID:10720431 "Signals from trunk paraxial mesoderm induce pronephros formation in chick intermediate mesoderm"]. These interactions induce the expression of TFs including Lim1, Pax2 and Pax6 that cause the intermediate mesoderm to form the kidney uberon owl:Class Portion of tissue that consists of the mesenchymal precursor to the pronephric kidney and that begins to separate from the intermediate mesoderm at NF stage 21 and epithelializes by NF stage 30.[AAO] PR:000025796 biolink:NamedThing integrin alpha A protein that is composed of a long N-terminal extracellular domain, a transmembrane domain and a short cytoplasmic C-terminal domain. The N-terminal domain contains beta-propeller repeats (interrupted by an A domain in a subset of integrins alpha), while the C-terminal domain contains a GFFxR motif. tmpxe7fu0cj_hp_relaxed.owl Category=family. Integrins are heterodimeric complexes of an alpha and a beta subunit. They are a structurally elaborate family of adhesion molecules that transmit signals bidirectionally across the plasma membrane by undergoing large-scale structural rearrangements. By regulating cell-cell and cell-matrix contacts, integrins participate in a wide-range of biological interactions including development, tissue repair, angiogenesis, inflammation and hemostasis. [PMID:10402956, PMID:11988479, PMID:9676575]. protein owl:Class HP:0032463 biolink:NamedThing Reduced circulating fibronectin level A reduction below the normal concentration of fibronectin the the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased plasma fibronectin 2019-03-09 18:08:23+00:00 Fibronectin is a large vertebrate glycoprotein that is found in soluble and insoluble forms and involved in diverse processes. Protomeric fibronectin is a dimer of subunits, each of which comprises 29-31 modules - 12 type I, two type II and 15-17 type III. Plasma fibronectin is secreted by hepatocytes and circulates in a compact conformation before it binds to cell surfaces, converts to an extended conformation and is assembled into fibronectin fibrils. peter owl:Class HP:0001859 biolink:NamedThing Distal foot symphalangism tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025743 HP:0100236 human_phenotype owl:Class CL:0000206 biolink:NamedThing chemoreceptor cell A cell specialized to detect chemical substances and relay that information centrally in the nervous system. Chemoreceptors may monitor external stimuli, as in taste and olfaction, or internal stimuli, such as the concentrations of oxygen and carbon dioxide in the blood. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class CL:0000101 biolink:NamedThing sensory neuron Any neuron having a sensory function; an afferent neuron conveying sensory impulses. tmpxe7fu0cj_hp_relaxed.owl FBbt:00005124|BTO:0001037|FMA:84649|WBbt:0005759 cell owl:Class GO:0045833 biolink:NamedThing negative regulation of lipid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipids. tmpxe7fu0cj_hp_relaxed.owl downregulation of lipid metabolic process|down regulation of lipid metabolic process|negative regulation of lipid metabolism|down-regulation of lipid metabolic process|inhibition of lipid metabolic process biological_process owl:Class HP:0001723 biolink:NamedThing Restrictive cardiomyopathy Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:90828009|MSH:D002313|UMLS:C0007196|SNOMEDCT_US:415295002 Historically, systolic function was said to be preserved in RCM, but is rare for contractility to be truly normal. Restrictive physiology can occur in patients with end-stage hypertrophic and DCM. HP:0005130 human_phenotype owl:Class HP:0001638 biolink:NamedThing Cardiomyopathy A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. tmpxe7fu0cj_hp_relaxed.owl Disease of the heart muscle SNOMEDCT_US:57809008|MSH:D009202|UMLS:C0878544|Fyler:1840|SNOMEDCT_US:85898001 human_phenotype owl:Class CHEBI:32439 biolink:NamedThing alaninate An alpha-amino-acid anion that is the conjugate base of alanine, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl alanine anion|alaninate|2-aminopropanoate -1 C3H6NO2 InChI=1S/C3H7NO2/c1-2(4)3(5)6/h2H,4H2,1H3,(H,5,6)/p-1 QNAYBMKLOCPYGJ-UHFFFAOYSA-M 88.08528 88.04040 CC(N)C([O-])=O Gmelin:101040|Beilstein:3903719 chebi_ontology owl:Class UBERON:0005323 biolink:NamedThing mesonephric mesenchyme Mesonephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the mesonephros[GO]. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001132|EMAPA:16745|AAO:0011062|XAO:0000291 uberon owl:Class HP:0003895 biolink:NamedThing Flattened humeral epiphyses tmpxe7fu0cj_hp_relaxed.owl Flattened end part of long bone in upper arm UMLS:C4025525 human_phenotype owl:Class HP:0007394 biolink:NamedThing Prominent superficial blood vessels tmpxe7fu0cj_hp_relaxed.owl Prominent superficial blood vessels|Prominent superficial vasculature UMLS:C1848771 HP:0007577 owl:Class GO:2000173 biolink:NamedThing negative regulation of branching morphogenesis of a nerve Any process that stops, prevents, or reduces the frequency, rate or extent of branching morphogenesis of a nerve. tmpxe7fu0cj_hp_relaxed.owl rl 2010-10-07T12:07:56Z biological_process owl:Class HP:0008732 biolink:NamedThing Renal hypophosphatemia Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024631 Three primary mechanisms of hypophosphatemia exist: increased renal excretion, decreased intestinal absorption, and movement of phosphate from the extracellular to intracellular compartments. The initial step in diagnosis involves determining whether hypophosphatemia is renal or nonrenal. human_phenotype owl:Class HP:0002148 biolink:NamedThing Hypophosphatemia An abnormally decreased phosphate concentration in the blood. tmpxe7fu0cj_hp_relaxed.owl Hypophosphataemia|Low blood phosphate level SNOMEDCT_US:4996001|UMLS:C0085682|MSH:D017674 human_phenotype owl:Class HP:0010405 biolink:NamedThing Broad middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Broad middle bone of 2nd toe UMLS:C4023850 doelkens 2009-07-16T12:43:52Z human_phenotype owl:Class UBERON:0003121 biolink:NamedThing pharyngeal arch artery 4 The vessels formed within the fourth pair of branchial arches in embryogenesis. tmpxe7fu0cj_hp_relaxed.owl 4th aortic arch artery|fourth aortic arch|fourth branchial arch artery|AA4|aortic arch 4|4th branchial arch artery|4th pharyngeal arch artery|4th arch artery|systemic arch ZFA:0005008|Wikipedia:Aortic_arches#Arch_4|TAO:0005008|XAO:0000355|EMAPA:17004|AAO:0010420|SCTID:308777005|EHDAA2:0000087 proximal right subclavian UBERON:0004350 uberon owl:Class The forth in a series paired arterial connections between the dorsal and ventral aortae, lies within the 4th branchial arch. The paired aortic arch 4 arteries branch directly from the ventral aorta to the lateral dorsal aorta, and are retained as the branchial arteries providing circulation through the gills in the adult.[AAO]|The fourth right arch forms the right subclavian as far as the origin of its internal mammary branch; while the fourth left arch constitutes the arch of the aorta between the origin of the left carotid artery and the termination of the ductus arteriosus[WP][Wikipedia:Aortic_arches#Arch_4].|Aortic arches 3 and 4 are not remodeled but are retained largely intact as the branchial arteries providing circulation through the gills. These areches are direct branches from the ventral aorta to the lateral dorsal aorta. Isogai et al. 2001.[TAO] Normally, the left fourth arch becomes the aortic arch, the right fourth arch contributes to the innominate artery[http://emedicine.medscape.com/article/899609-overview] in birds it is the right fourth arch which forms the permanent aorta GO:0021895 biolink:NamedThing cerebral cortex neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron residing in the cerebral cortex. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0021953 biolink:NamedThing central nervous system neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron whose cell body resides in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0013777 biolink:NamedThing skin of palm of manus A zone of skin that is part of a palmar part of manus. tmpxe7fu0cj_hp_relaxed.owl palmar skin of hand|skin of palmar area of hand FMA:38301 uberon owl:Class GO:2000211 biolink:NamedThing regulation of glutamate metabolic process Any process that modulates the frequency, rate or extent of glutamate metabolic process. tmpxe7fu0cj_hp_relaxed.owl regulation of glutamate metabolism|regulation of glutamic acid metabolism|regulation of glutamic acid metabolic process mah 2010-11-03T02:43:51Z biological_process owl:Class GO:0000820 biolink:NamedThing regulation of glutamine family amino acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. tmpxe7fu0cj_hp_relaxed.owl regulation of glutamine family amino acid metabolism biological_process owl:Class HP:0012123 biolink:NamedThing Posterior uveitis Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid. tmpxe7fu0cj_hp_relaxed.owl Choroiditis MSH:D002833|UMLS:C0042167|MSH:D015866|SNOMEDCT_US:16553002|SNOMEDCT_US:43363007|UMLS:C0008526 hecht 2012-09-16T06:25:06Z human_phenotype owl:Class HP:0000554 biolink:NamedThing Uveitis Inflammation of one or all portions of the uveal tract. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0042164|SNOMEDCT_US:128473001|MSH:D014605 The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. human_phenotype owl:Class HP:3000020 biolink:NamedThing Abnormality of zygomaticus minor muscle An abnormality of a zygomaticus minor muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073229 vasilevs 2015-08-07T00:15:45Z human_phenotype owl:Class UBERON:0005383 biolink:NamedThing caudate-putamen Regional part of telencephalon in some species, e.g., rodent, equivalent to the dorsal striatum (caudate nucleus and putamen). Unlike the dorsal striatum of primates, for example, the caudoputamen is not split into separate nuclei by the fibers of the internal capsule. Rather, the internal capsule splits into fiber bundles which course through the structure. tmpxe7fu0cj_hp_relaxed.owl striatum|caudate putamen (striatum)|caudate-putamen|caudoputamen|dorsal striatum|neostriatum|caudateputamen|caudate putamen BTO:0000212|EFO:0001912|BAMS:CPu|MA:0000893|MBA:672|NLXANAT:100312|BAMS:CP|EMAPA:19095|BM:Tel-C-Pu we do not currently place rodent-specific taxon constraints here as this would cause taxon violations. There is an argument for merging this into dorsal striatum and treating the distinction as phenotypic|check - rodents. The caudate nucleus and putamen are separated by a clear white matter bundle in most species but not in rodents (MM) uberon owl:Class In the human, histologically the caudate nucleus and putamen are identically and share a common embryological origin[ISBN:0123813611] UBERON:0004117 biolink:NamedThing pharyngeal pouch An internal pocketing of pharyngeal endoderm that contacts a region of ectoderm (a pharyngeal cleft) and interdigitates in the anterior and posterior directions with the pharyngeal arches. tmpxe7fu0cj_hp_relaxed.owl branchial pouch|pharyngeal pouches|visceral pouch|visceral pouches EHDAA:1669|EHDAA:1086|TAO:0001106|EMAPA:32752|EHDAA:617|SCTID:34674002|FMA:293063|EHDAA:579|ZFA:0001106|VHOG:0001203|UMLS:C0231067|Wikipedia:Pharyngeal_pouch_(embryology)|NCIT:C34252|EFO:0003627|XAO:0000282|AAO:0011113 The pouches are polarized structures. For example, whereas the rostral half of each pouch expresses Bmp-7, the caudal half expresses FGF-8 and the dorsal aspect of each pouch is marked via its expression of Pax-1. each pouch has an individual sense of identity. Shh expression is a prominent early feature of the caudal endoderm of the second arch, and individual pouches mark the anterior limits of expression of Hox genes within the pharyngeal endoderm; Hox-a2 has a rostral boundary at the second pouch, Hox-a3 at the third pouch and Hox-a4 at the most caudal pouch[PMID:16313389] uberon owl:Class Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits. Crump et al, 2004.[TAO] A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] EMAPA also includes a distinct pouch endoderm UBERON:0003258 biolink:NamedThing endoderm of foregut An endoderm that is part of a foregut [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl foregut endoderm EHDAA2:0004568|EHDAA:524 TODO - check uberon owl:Class HP:0002869 biolink:NamedThing Flared iliac wing Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. tmpxe7fu0cj_hp_relaxed.owl Flared iliac wings UMLS:C1865841 See Figure 4A of PMID:28744080. owl:Class UBERON:0005708 biolink:NamedThing lower jaw incisor odontogenic papilla An odontogenic papilla that is part of a lower jaw incisor. tmpxe7fu0cj_hp_relaxed.owl lower incisor mesenchyme|lower jaw incisor dental papilla EHDAA2:0001023|EMAPA:17920 uberon owl:Class CHEBI:33836 biolink:NamedThing benzenoid aromatic compound tmpxe7fu0cj_hp_relaxed.owl benzenoid aromatic compounds|benzenoid compound chebi_ontology owl:Class CHEBI:33659 biolink:NamedThing organic aromatic compound tmpxe7fu0cj_hp_relaxed.owl organic aromatic compounds chebi_ontology owl:Class GO:0048598 biolink:NamedThing embryonic morphogenesis The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. tmpxe7fu0cj_hp_relaxed.owl embryonic anatomical structure morphogenesis GO:0048828 biological_process owl:Class HP:0003831 biolink:NamedThing Age-dependent penetrance A situation in which phenotypic abnormalities become evident with age. tmpxe7fu0cj_hp_relaxed.owl Age dependent penetrance UMLS:C1835978 human_phenotype owl:Class HP:0003829 biolink:NamedThing Incomplete penetrance A situation in which mutation carriers do not show clinically evident phenotypic abnormalities. tmpxe7fu0cj_hp_relaxed.owl Reduced penetrance UMLS:C1836598 This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. HP:0003830 human_phenotype owl:Class HP:0031459 biolink:NamedThing Soft tissue neoplasm A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 16:05:40+00:00 peter owl:Class GO:0006909 biolink:NamedThing phagocytosis A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Phagocytosis biological_process owl:Class GO:0016192 biolink:NamedThing vesicle-mediated transport A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. tmpxe7fu0cj_hp_relaxed.owl nonselective vesicle transport|vesicular transport|vesicle trafficking|protein sorting along secretory pathway|vesicle transport GO:0006899 biological_process owl:Class UBERON:0013778 biolink:NamedThing skin of sole of pes A zone of skin that is part of a skin of pes. tmpxe7fu0cj_hp_relaxed.owl skin of plantar part of foot|plantar skin of foot|skin of sole of foot FMA:37849 uberon owl:Class UBERON:0013776 biolink:NamedThing skin of palmar/plantar part of autopod A zone of skin that is part of a palmar/plantar part of autopod. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0009920 biolink:NamedThing optic neural crest tmpxe7fu0cj_hp_relaxed.owl EHDAA:1122|EHDAA2:0001315 uberon owl:Class HP:0410300 biolink:NamedThing Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 22:03:29+00:00 owl:Class HP:0410299 biolink:NamedThing Decreased specific antibody response to polysaccharide vaccine A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 22:03:17+00:00 owl:Class GO:0045453 biolink:NamedThing bone resorption The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Bone_resorption biological_process owl:Class GO:0001894 biolink:NamedThing tissue homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. tmpxe7fu0cj_hp_relaxed.owl tissue maintenance biological_process owl:Class HP:0032243 biolink:NamedThing Abnormal tissue metabolite concentration Any deviation from the normal concentration of a metabolite in a tissue. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 11:56:39+00:00 peter owl:Class GO:0003143 biolink:NamedThing embryonic heart tube morphogenesis The process in which the anatomical structures of the embryonic heart tube are generated and organized. The embryonic heart tube is an epithelial tube that will give rise to the mature heart. tmpxe7fu0cj_hp_relaxed.owl tb 2009-09-22T04:21:17Z biological_process owl:Class GO:0090174 biolink:NamedThing organelle membrane fusion The joining of two lipid bilayers to form a single organelle membrane. tmpxe7fu0cj_hp_relaxed.owl tb 2009-12-11T11:44:58Z biological_process owl:Class HP:0410390 biolink:NamedThing Decreased proportion of effector memory CD8-positive, alpha-beta T cells A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0410385 biolink:NamedThing Decreased proportion of CD8-positive, alpha-beta memory T cells Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0002693 biolink:NamedThing Abnormality of the skull base An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cranial base|Abnormality of the skull base UMLS:C4025688 human_phenotype owl:Class HP:0020035 biolink:NamedThing Lower limb dysmetria A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg. tmpxe7fu0cj_hp_relaxed.owl 2017-10-13 12:24:09+00:00 robinp owl:Class HP:0002406 biolink:NamedThing Limb dysmetria A type of dysmetria involving the limbs. tmpxe7fu0cj_hp_relaxed.owl Uncoordinated limb movement UMLS:C1854489|UMLS:C4280577 human_phenotype owl:Class GO:0042327 biolink:NamedThing positive regulation of phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. tmpxe7fu0cj_hp_relaxed.owl up-regulation of phosphorylation|stimulation of phosphorylation|activation of phosphorylation|up regulation of phosphorylation|upregulation of phosphorylation biological_process owl:Class GO:0008211 biolink:NamedThing glucocorticoid metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0002504 biolink:NamedThing Calcification of the small brain vessels Deposition of calcium salts within small blood vessels of the brain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025703 This finding can be made upon neuropathologic examination. human_phenotype owl:Class HP:0009145 biolink:NamedThing Abnormal cerebral artery morphology Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the cerebral arteries|Abnormality of cerebral artery UMLS:C4021520 peter 2008-05-02T01:39:00Z owl:Class HP:0004330 biolink:NamedThing Increased skull ossification An increase in the magnitude or amount of ossification of the skull. tmpxe7fu0cj_hp_relaxed.owl Increased calcification of skull|Hyperossification of skull|Sclerosis of skull|Hyperostosis of skull|Sclerosis of bones of skull|Increased Mineralization of skull UMLS:C0020496|UMLS:C4072850|UMLS:C4072851|SNOMEDCT_US:17401000119104 peter 2008-02-28T11:54:00Z human_phenotype owl:Class HP:0005490 biolink:NamedThing Postnatal macrocephaly The postnatal development of an abnormally large skull (macrocephaly). tmpxe7fu0cj_hp_relaxed.owl Macrocephaly, postnatal UMLS:C1854417 human_phenotype owl:Class HP:0000343 biolink:NamedThing Long philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. tmpxe7fu0cj_hp_relaxed.owl Increased vertical dimension of philtrum|Vertical hyperplasia of philtrum|Increased length of philtrum|Increased height of philtrum|Elongated philtrum UMLS:C1865014 human_phenotype owl:Class UBERON:0016404 biolink:NamedThing cervical vertebral arch joint A vertebral arch joint that is part of a cervical region of vertebral column. tmpxe7fu0cj_hp_relaxed.owl joint of cervical vertebral arch|zygapophyseal joint of cervical vertebrae|zygapophysial joint of cervical vertebrae|joint of cervical vertebral articular process|cervical facet joint FMA:13668 uberon owl:Class UBERON:0001067 biolink:NamedThing vertebral arch joint A synovial joint between the prezygapophysis of one vertebra and the postzygapophysis of the vertebra directly above it. There are two facet joints in each spinal motion segment[WP]. tmpxe7fu0cj_hp_relaxed.owl zygapophyseal joint|joint of vertebral arch|facet joint|spinal facet joint|joint of vertebral articular process|articulationes zygapophysiales|zygapophysial joint UMLS:C0224521|FMA:10447|MA:0001513|NCIT:C32577|MESH:D021801|GAID:275|OpenCyc:Mx4rvorHEpwpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/d/d2/Gray90.png uberon owl:Class GO:0035561 biolink:NamedThing regulation of chromatin binding Any process that modulates the frequency, rate or extent of chromatin binding. Chromatin binding is the selective interaction with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. tmpxe7fu0cj_hp_relaxed.owl bf 2010-05-19T10:28:36Z biological_process owl:Class GO:0045617 biolink:NamedThing negative regulation of keratinocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of keratinocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl down regulation of keratinocyte differentiation|inhibition of keratinocyte differentiation|downregulation of keratinocyte differentiation|down-regulation of keratinocyte differentiation biological_process owl:Class HP:0011372 biolink:NamedThing Aplasia of the inner ear Absence of the inner ear due to a developmental defect. tmpxe7fu0cj_hp_relaxed.owl Absent inner ear|Aplasia of the labyrinth|Michel deformity|Labyrinthine aplasia UMLS:C0266604|SNOMEDCT_US:71973003 Aplasia of the inner ear is usually diagnosed on MR or CT imaging. peter 2012-03-07T08:23:52Z human_phenotype owl:Class HP:0008774 biolink:NamedThing Aplasia/Hypoplasia of the inner ear Aplasia or developmental hypoplasia of the inner ear. tmpxe7fu0cj_hp_relaxed.owl Absent/small inner ear|Absent/underdeveloped inner ear UMLS:C4024625 peter 2008-04-04T05:48:00Z human_phenotype owl:Class HP:0011591 biolink:NamedThing Left aortic arch with cervical origin of the right subclavian artery tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023281 peter 2012-04-08T01:57:40Z human_phenotype owl:Class HP:0034136 biolink:NamedThing Anti-neurofascin 186 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186. tmpxe7fu0cj_hp_relaxed.owl Anti-NF186 antibody positivity 2021-12-23 12:56:27+00:00 peter owl:Class GO:0045634 biolink:NamedThing regulation of melanocyte differentiation Any process that modulates the frequency, rate or extent of melanocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of melanophore differentiation biological_process owl:Class HP:0009206 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 5th finger Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the middle bone of the pinkie finger|Enlarged end part of the middle bone of the pinky finger|Enlarged end part of the middle bone of the little finger UMLS:C4024534 doelkens 2009-01-05T05:22:18Z human_phenotype owl:Class HP:0032805 biolink:NamedThing Focal impaired awareness sensory seizure with vestibular features A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032759 biolink:NamedThing Focal sensory seizure with vestibular features A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation. tmpxe7fu0cj_hp_relaxed.owl Focal vestibular seizure|Partial vestibular seizure|Vestibular aura These seizures involve the parietal cortex, temporo-parieto-occipital junction or parieto-temporal cortex. peter owl:Class HP:0007545 biolink:NamedThing Congenital palmoplantar hyperkeratosis Abnormal thickening of the skin on the palms and soles that is present at birth. tmpxe7fu0cj_hp_relaxed.owl Congenital palmoplantar keratodermia|Congenital palmoplantar keratosis|Congenital palmoplantar keratoderma UMLS:C1855633 HP:0007597 owl:Class HP:0000972 biolink:NamedThing Palmoplantar hyperkeratosis Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. tmpxe7fu0cj_hp_relaxed.owl Palmoplantar keratosis|Thickened palms and soles|Hyperkeratosis of palms and soles|Thickening of the outer layer of the skin of the palms and soles|Palmoplantar keratoses|Hyperkeratosis of the palms and soles|Thick palms and soles MSH:D007645|SNOMEDCT_US:706885006|UMLS:C0022596 The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature. owl:Class GO:0006139 biolink:NamedThing nucleobase-containing compound metabolic process Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpxe7fu0cj_hp_relaxed.owl cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolism|cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|nucleobase, nucleoside and nucleotide metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolism|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process GO:0055134 biological_process owl:Class UBERON:0010375 biolink:NamedThing pancreas dorsal primordium tmpxe7fu0cj_hp_relaxed.owl dorsal pancreas EHDAA2:0001384|FMA:79793 consider merging with dorsal pancreatic bud. Starts at CS12 in human (EHDAA2, embryology.ch 'bud anlagen') uberon owl:Class HP:0032310 biolink:NamedThing Granulocytosis An increased count of granulocytes in the peripheral blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 10:57:40+00:00 peter owl:Class HP:0030468 biolink:NamedThing Abnormal multifocal electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072958 owl:Class HP:0000512 biolink:NamedThing Abnormal electroretinogram Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. tmpxe7fu0cj_hp_relaxed.owl ERG abnormal|Abnormal electroretinography|Abnormal ERG UMLS:C0476397|SNOMEDCT_US:274524001 The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG. HP:0003285 human_phenotype owl:Class UBERON:0006867 biolink:NamedThing anal part of perineum The anal triangle is the posterior part of the perineum. It contains the anal canal. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl regio analis|anal triangle|anal region FMA:20347 http://upload.wikimedia.org/wikipedia/commons/f/fb/Gray408.png uberon owl:Class GO:1905208 biolink:NamedThing negative regulation of cardiocyte differentiation Any process that stops, prevents or reduces the frequency, rate or extent of cardiocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl inhibition of cardiocyte differentiation|down regulation of cardiac cell differentiation|negative regulation of heart cell differentiation|downregulation of cardiac cell differentiation|down regulation of cardiocyte differentiation|downregulation of heart cell differentiation|inhibition of cardiac cell differentiation|down-regulation of cardiocyte differentiation|negative regulation of cardiac cell differentiation|down-regulation of cardiac cell differentiation|downregulation of cardiocyte differentiation|inhibition of heart cell differentiation|down regulation of heart cell differentiation|down-regulation of heart cell differentiation bc 2016-06-02T07:20:09Z biological_process owl:Class UBERON:0004357 biolink:NamedThing paired limb/fin bud An outgrowth on the lateral trunk of the embryo that develops into a limb or paired fin. The limb/fin bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. tmpxe7fu0cj_hp_relaxed.owl paired limb/fin bud|paired appendage bud|limb - fin bud VHOG:0001258 Genes: In limb buds of chick and mouse, Shh expression is activated as soon as there is a morphological bud, whereas in S. canicula fin buds, consistent with reported data in other cartilaginous fishes, Shh is transcribed late in fin development[PMID:17187056] uberon owl:Class The tetrapod limb is derived from a posterior part of the fin endoskeleton of elasmobranchs and basal bony fish, the so-called metapterygium, a series of endoskeletal elements that is the first to form in the developing paired fins. (...) In addition, there is an independent endoskeletal element called the protopterygium that develops anterior to the metapterygium in many basal fishes (e.g., the bichir and sturgeon). Teleosts have lost the metapterygium whereas the sarcopterygians, on the other hand, have lost the protopterygium. Sarcopterygians thus develop all their endoskeletal structures from the metapterygium and consequently the tetrapod limb skeleton is derived from the metapterygium.[uncertain][VHOG] HP:0006689 biolink:NamedThing Bacterial endocarditis A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves. tmpxe7fu0cj_hp_relaxed.owl Infective endocarditis SNOMEDCT_US:301183007|MSH:D004697|UMLS:C0014121 doelkens 2010-12-27T02:57:48Z human_phenotype owl:Class HP:0100584 biolink:NamedThing Endocarditis An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. tmpxe7fu0cj_hp_relaxed.owl MSH:D004696|UMLS:C0014118|SNOMEDCT_US:56819008 doelkens 2010-12-27T02:57:48Z human_phenotype owl:Class GO:0061024 biolink:NamedThing membrane organization A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. tmpxe7fu0cj_hp_relaxed.owl membrane organization and biogenesis|cellular membrane organization|single-organism membrane organization|membrane organisation|cellular membrane organisation jl 2010-02-08T02:43:11Z GO:0016044|GO:0044802 biological_process owl:Class UBERON:0004792 biolink:NamedThing secretion of endocrine pancreas A secretion that is part of a endocrine pancreas [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pancreatic endocrine secretion|secretion of pars endocrina pancreatis|endocrine pancreas secretion|pars endocrina pancreatis secretion NCIT:C33255|UMLS:C1518866|MA:0002517 uberon owl:Class BFO:0000002 biolink:NamedThing continuant An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts. tmpxe7fu0cj_hp_relaxed.owl Continuant continuant Continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example, in an expansion involving bringing in some of Ceuster's other portions of reality, questions are raised as to whether universals are continuants|BFO 2 Reference: Continuant entities are entities which can be sliced to yield parts only along the spatial dimension, yielding for example the parts of your table which we call its legs, its top, its nails. ‘My desk stretches from the window to the door. It has spatial parts, and can be sliced (in space) in two. With respect to time, however, a thing is a continuant.’ [60, p. 240 A continuant is an entity that persists, endures, or continues to exist through time while maintaining its identity. (axiom label in BFO2 Reference: [008-002]) (forall (x) (if (Material Entity x) (exists (t) (and (TemporalRegion t) (existsAt x t))))) // axiom label in BFO2 CLIF: [011-002] |(forall (x y) (if (and (Continuant x) (exists (t) (hasContinuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [126-001] |(forall (x y) (if (and (Continuant x) (exists (t) (continuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [009-002] |(forall (x) (if (Continuant x) (Entity x))) // axiom label in BFO2 CLIF: [008-002] if b is a continuant and if, for some t, cis continuant_part of b at t, then c is a continuant. (axiom label in BFO2 Reference: [009-002])|if b is a continuant and if, for some t, c has_continuant_part b at t, then c is a continuant. (axiom label in BFO2 Reference: [126-001])|if b is a material entity, then there is some temporal interval (referred to below as a one-dimensional temporal region) during which b exists. (axiom label in BFO2 Reference: [011-002]) owl:Class UBERON:0004720 biolink:NamedThing cerebellar vermis A subregion of the cerebellar cortex, consisting of the most medial zone of the cerebellar cortex, stradding the midline. May be continuous with the lateral cerebellar hemispheres in some areas of the cerebellum, e.g., dorsally, or separated by deeper fissures in others (e.g., ventrally). tmpxe7fu0cj_hp_relaxed.owl vermis of cerebellum [I-X]|vermis cerebelli|vermal parts of the cerebellum|vermal regions|vermis|vermis cerebelli [I-X]|vermis of cerebellum|cerebellum vermis MA:0000202|HBA:4698|FMA:76928|EV:0100298|CALOHA:TS-2059|BAMS:VERM|DHBA:10658|BIRNLEX:1175|BAMS:Ver|BIRNLEX:1106|MBA:645|NCIT:C33866|EMAPA:35214|UMLS:C0228482|DMBA:16814 http://upload.wikimedia.org/wikipedia/commons/4/43/CerebellumDiv.png uberon owl:Class In bony fish, or teleosts, it has been proposed that the cerebellar auricles, which receive a large amount of input from the vestibulolateral line system, constitute the vestibulocerebellum and are homologues of the flocculonodular lobe of higher vertebrates along with the corpus cerebelli, which receives spinocerebellar and tectocerebellar fibers. The labyrinth and the lateral line organs of lampreys have structural and functional similarity. An important difference between the two structures is that the arrangement of the lateral line organs are such that they are sensitive to relative motion of the fluid surrounding the animal, whereas the labyrinths, having very similar sensing mechanisms, are sensitive to endolymph, providing information concerning the animal's own equilibrium of the body and orientation in space we follow MBA and NIFSTD in making this part of the cerebellar cortex, but FMA may handle this differently UBERON:0002749 biolink:NamedThing regional part of cerebellar cortex A regional part of brain that is part of a cerebellar cortex [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl segment of cerebellar cortex|cerebellar cortical segment BIRNLEX:1571|FMA:76924 uberon owl:Class HP:0033645 biolink:NamedThing Midline brainstem cleft A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons. tmpxe7fu0cj_hp_relaxed.owl 2021-02-24 12:43:08+00:00 peter owl:Class HP:0002363 biolink:NamedThing Abnormal brainstem morphology An anomaly of the brainstem. tmpxe7fu0cj_hp_relaxed.owl Abnormality of brainstem morphology|Abnormal shape of brainstem|Abnormality of the brainstem UMLS:C1850601 owl:Class GO:1902761 biolink:NamedThing positive regulation of chondrocyte development Any process that activates or increases the frequency, rate or extent of chondrocyte development. tmpxe7fu0cj_hp_relaxed.owl up-regulation of chondrocyte development|upregulation of chondrocyte development|up regulation of chondrocyte development|activation of chondrocyte development mr 2014-03-07T17:45:55Z biological_process owl:Class GO:0010720 biolink:NamedThing positive regulation of cell development Any process that increases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0002380 biolink:NamedThing trapezius muscle A large superficial muscle that extends longitudinally from the occipital bone to the lower thoracic vertebrae and laterally to the spine of the scapula (shoulder blade). Its functions are to move the scapulae and support the arm. The trapezius has three functional regions: the superior region (descending part), which supports the weight of the arm; the intermediate region (transverse part), which retracts the scapulae; and the inferior region (ascending part), which medially rotates and depresses the scapulae. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl spinotrapezius|musculus trapezius|trapezius NCIT:C33809|EMAPA:18183|MA:0002398|FMA:9626|UMLS:C0224361|VHOG:0000834 http://upload.wikimedia.org/wikipedia/commons/6/60/Trapezius.png uberon owl:Class The sternomastoid and the three parts of the trapezius are branchiomeric muscles that have secondarily acquired an attachment to the pectoral girdle. They evolved from the fish cucullaris.[well established][VHOG] UBERON:0018529 biolink:NamedThing female inguinal ring An inguinal ring that is part of a female reproductive system. tmpxe7fu0cj_hp_relaxed.owl MA:0003250|EMAPA:19172 uberon owl:Class GO:1902905 biolink:NamedThing positive regulation of supramolecular fiber organization Any process that activates or increases the frequency, rate or extent of supramolecular fiber organization. tmpxe7fu0cj_hp_relaxed.owl positive regulation of fibril organisation|activation of fibril organisation|up-regulation of fibril organisation|upregulation of fibril organization|up regulation of fibril organisation|up-regulation of fibril organization|activation of fibril organization|upregulation of fibril organisation|up regulation of fibril organization HSPA8, human, P11142 in PMID:23921388 inferred from direct assay to negatively regulate fibrillation of alpha-Syn in vitro rl 2014-04-15T16:46:48Z biological_process owl:Class GO:1902903 biolink:NamedThing regulation of supramolecular fiber organization Any process that modulates the frequency, rate or extent of supramolecular fiber organization. tmpxe7fu0cj_hp_relaxed.owl regulation of fibril organisation HSPA8, human, P11142 in PMID:23921388 inferred from direct assay to negatively regulate fibrillation of alpha-Syn in vitro rl 2014-04-15T16:46:36Z biological_process owl:Class GO:0045904 biolink:NamedThing negative regulation of translational termination Any process that stops, prevents, or reduces the frequency, rate or extent of translational termination. tmpxe7fu0cj_hp_relaxed.owl inhibition of translational termination|down-regulation of translational termination|down regulation of translational termination|downregulation of translational termination biological_process owl:Class HP:0032728 biolink:NamedThing Focal impaired awareness atonic seizure A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0020220 biolink:NamedThing Focal atonic seizure A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature. tmpxe7fu0cj_hp_relaxed.owl Localized hypotonic seizure|Partial atonic seizure|Partial hypotonic seizure|Localised atonic seizure|Localized atonic seizure|Segmental hypotonic seizure|Segmental atonic seizure|Localised hypotonic seizure robinp 2020-02-24 14:54:22+00:00 owl:Class HP:0002141 biolink:NamedThing Gait imbalance tmpxe7fu0cj_hp_relaxed.owl Abnormality of equilibrium|Abnormality of balance|Imbalanced walk UMLS:C1836150 HP:0100683 human_phenotype owl:Class MAXO:0000425 biolink:NamedThing MRI of the head A medical examination performed using of magnetic resonance imaging to image the head. tmpxe7fu0cj_hp_relaxed.owl Nuclear magnetic resonance imaging of the head|head MRI|head magnetic resonance imaging 2019-05-19T20:39:14Z http://orcid.org/0000-0001-7941-2961 owl:Class MAXO:0000424 biolink:NamedThing medical magnetic resonance imaging procedure Imaging that uses radiofrequency waves and a strong magnetic field rather than x-rays to provide amazingly clear and detailed pictures of internal organs and tissues. The technique is valuable for the diagnosis of many pathologic conditions, including cancer, heart and vascular disease, stroke, and joint and musculoskeletal disorders. tmpxe7fu0cj_hp_relaxed.owl therapeutic MRI|NMRI|nuclear magnetic resonance imaging for medical therapy|MRI scan for therapeutics 2019-04-26 17:25:14+00:00 NCIT:C16809 owl:Class PATO:0001303 biolink:NamedThing variability A quality inhering in a bearer by virtue of the bearer's disposition to varying or changing. tmpxe7fu0cj_hp_relaxed.owl variability of a physical quality quality owl:Class PATO:0000001 biolink:NamedThing quality A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities tmpxe7fu0cj_hp_relaxed.owl quality (PATO) PATO:0000072 quality owl:Class UBERON:0008343 biolink:NamedThing intestinal villus of jejunum An intestinal villus in the jejunum. tmpxe7fu0cj_hp_relaxed.owl FMA:63301 uberon owl:Class UBERON:0001213 biolink:NamedThing intestinal villus The tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold. tmpxe7fu0cj_hp_relaxed.owl enteric villous|villi intestinales|villus intestinalis (intestinum tenue)|enteric villus|small intestine villus|intestinal villus layer|villus|enteric villi|intestinal villi BTO:0003121|FMA:15072|UMLS:C1519988|ZFA:0005125|NCIT:C33874|EMAPA:35784|MA:0001563|TAO:0005125 http://upload.wikimedia.org/wikipedia/commons/3/38/Small_intestine_low_mag.jpg in mammals, villi are (largely?) absent from the large intestine, so we treat this as equivalent to small intestinal villus. small/large subdivision may not make sense for all species for which this is present (see ZFA). Note that VHOG quotes ISBN:978-0030223693 as suggesting there are some villi in the large intestine UBERON:0007607 uberon owl:Class The entire digestive tract is lined by well developed villi, which are longest in the intestinal bulb and decrease progressively in size towards the caudal end of the intestine. No crypts are present, but, the regions between the villi, the intervillus pockets, have a crypt-like function. Cells are produced in the intervillus pockets and shed from the villus tips. Crosnier et al. 2005[TAO] the BTO class refers to a generic villous UBERON:0000948 biolink:NamedThing heart A myogenic muscular circulatory organ found in the vertebrate cardiovascular system composed of chambers of cardiac muscle. It is the primary circulatory organ. tmpxe7fu0cj_hp_relaxed.owl chambered heart|vertebrate heart|cardium|branchial heart EMAPA:16105|ZFA:0000114|Wikipedia:Heart|TAO:0000114|CALOHA:TS-0445|EHDAA2:0000738|MESH:D006321|MA:0000072|VHOG:0000276|GAID:174|BTO:0000562|FMA:7088|EHDAA:420|MAT:0000036|MIAA:0000036|SCTID:302509004|NCIT:C12727|XAO:0000064|EFO:0000815|BILA:0000020|UMLS:C0018787|OpenCyc:Mx4rvVjvDpwpEbGdrcN5Y29ycA|galen:Heart|AAO:0010210|EV:0100018 Taxon notes:" the ascidian tube-like heart lacks chambers....The ascidian heart is formed after metamorphosis as a simple tube-like structure with a single-layered myoepithelium that is continuous with a single-layered pericar- dial wall. It lacks chambers and endocardium.... The innovation of the chambered heart was a key event in vertebrate evolution, because the chambered heart generates one-way blood flow with high pressure, a critical requirement for the efficient blood supply of large-body vertebrates... all extant vertebrates have hearts with two or more chambers (Moorman and Christoffels 2003)" DOI:10.1101/gad.1485706 uberon owl:Class Blood pumping organ composed of four chambers: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus.[TAO]|Part of the circulatory system responsible for pumping blood; composed of three chambers--two atria and one ventricle.[AAO] relationship type change: differentiates_from lateral plate mesoderm (AAO:0010574) CHANGED TO: develops_from lateral plate mesoderm (UBERON:0003081)[AAO] As noted, the hearts of birds and mammals have four chambers that arises from the two chambers (atrium and ventricle) of the fish heart.[well established][VHOG] cardiac UBERON:0007100 biolink:NamedThing primary circulatory organ A hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood or analogs[GO,modified]. tmpxe7fu0cj_hp_relaxed.owl adult heart|heart|dorsal tube http://www.sciencemag.org/content/313/5795/1922/F1.large.jpg|TADS:0000147|FBbt:00003154|SPD:0000130 Gene notes: Bmp, Nkx, Gata uberon owl:Class note we reserve the subclass 'heart' from the vertebrate multi-chambered heart. 'The first heart-like organ is believed to have appeared 500my ago in an ancestral bilaterian'. Amniotes: four-chambered heart. Amphibians: two atria, one ventricle, pulmonary; fish: single atrium and ventricle; amphioxus: tubular, non-striated, closed, unidirectional; ascidians: tubular, striated, open, bidirectional; arthropods: tubular, open; C elegans: contractile pharynx; Cnideria: striated muscle cells associated with gastrodermis UBERON:0010359 biolink:NamedThing pharyngeal arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a entire pharyngeal arch associated mesenchyme. tmpxe7fu0cj_hp_relaxed.owl arch mesenchyme from neural crest|neural crest derived arch mesenchyme|branchial arch mesenchyme from neural crest Partially implements https://github.com/obophenotype/uberon/wiki/The-neural-crest NC meeting scheme uberon owl:Class CL:0002546 biolink:NamedThing embryonic blood vessel endothelial progenitor cell An endothelial progenitor cell that participates in angiogenesis during development. tmpxe7fu0cj_hp_relaxed.owl See CL:0002619. tmeehan 2011-02-28T04:20:39Z cell owl:Class UBERON:0010558 biolink:NamedThing pedal digit 2 metatarsal cartilage element A pedal digit metatarsal cartilage element that is part of a pedal digit 2 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl toe 2 metatarsal cartilage element|foot digit 2 metatarsal cartilage element|hind limb digit 2 metatarsal cartilage condensation|pedal digit II metatarsal cartilage element EMAPA:18111 uberon owl:Class UBERON:0015038 biolink:NamedThing pedal digit 2 metatarsal endochondral element A pedal digit 2 metatarsal bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl pedal digit II metatarsal endochondral element|pedal digit 2 metatarsal element|pedal digit 2 metatarsal skeletal element uberon owl:Class HP:0002275 biolink:NamedThing Poor motor coordination tmpxe7fu0cj_hp_relaxed.owl Poor motor coordination UMLS:C1848453 human_phenotype owl:Class HP:0011443 biolink:NamedThing Abnormality of coordination tmpxe7fu0cj_hp_relaxed.owl Abnormality of coordination|Coordination issue UMLS:C4023353 peter 2012-03-18T02:40:46Z owl:Class GO:1900119 biolink:NamedThing positive regulation of execution phase of apoptosis Any process that activates or increases the frequency, rate or extent of execution phase of apoptosis. tmpxe7fu0cj_hp_relaxed.owl up regulation of execution phase of apoptosis|activation of execution phase of apoptosis|upregulation of execution phase of apoptosis|up-regulation of execution phase of apoptosis pr 2012-02-22T11:26:27Z biological_process owl:Class CL:0008002 biolink:NamedThing skeletal muscle fiber A transversely striated, synctial cell of skeletal muscle. It is formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. tmpxe7fu0cj_hp_relaxed.owl owl:Class CL:0000188 biolink:NamedThing cell of skeletal muscle A somatic cell located in skeletal muscle. tmpxe7fu0cj_hp_relaxed.owl skeletal muscle cell CALOHA:TS-2158|BTO:0004392|FMA:9727 cell owl:Class HP:0006694 biolink:NamedThing Early progressive calcific cardiac valvular disease tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024999 human_phenotype owl:Class GO:0070943 biolink:NamedThing neutrophil-mediated killing of symbiont cell The directed killing of a symbiont target cell by a neutrophil. The symbiont is defined as the smaller of the organisms involved in a symbiotic interaction. tmpxe7fu0cj_hp_relaxed.owl neutrophil mediated killing of symbiont cell mah 2009-10-01T01:52:03Z biological_process owl:Class UBERON:0010306 biolink:NamedThing bulbar conjunctiva The conjunctiva covering the anterior surface of the sclera and the surface epithelium of the cornea. tmpxe7fu0cj_hp_relaxed.owl ocular conjunctiva UMLS:C0229275|NCIT:C12902|FMA:59024 covers the eyeball, over the sclera. This region of the conjunctiva is tightly bound to the underlying sclera by Tenon's capsule and moves with the eyeball movements. uberon owl:Class UBERON:0004660 biolink:NamedThing mandible coronoid process A dorsal process on the lower jaw associated with muscle attachment. It may be formed by a separate coronoid bone or as a process of the dentary. In most living (and many extinct) mammals, the most dorsal of the three proximal processes of the jaw. tmpxe7fu0cj_hp_relaxed.owl coronoid|processus coronoideus (mandibula)|coronoid process of mandible|mandibular coronoid process|processus coronoideus mandibulae MA:0002819|FMA:52833 http://upload.wikimedia.org/wikipedia/commons/7/74/Processuscoronoideusmandibulae.PNG uberon owl:Class TAO:0001673 coronoid process, a bony projection on dentary HP:0025570 biolink:NamedThing Choroidal vascular hyperpermeability Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA). tmpxe7fu0cj_hp_relaxed.owl Choroidal hyperpermeability 2017-12-14 13:49:33+00:00 HPO:probinson owl:Class HP:0025568 biolink:NamedThing Abnormal morphology of the choroidal vasculature tmpxe7fu0cj_hp_relaxed.owl 2017-12-14 13:37:50+00:00 HPO:probinson owl:Class GO:0031214 biolink:NamedThing biomineral tissue development Formation of hard tissues that consist mainly of inorganic compounds, and also contain a small amounts of organic matrices that are believed to play important roles in their formation. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Biomineralization biological_process owl:Class HP:0031535 biolink:NamedThing Increased theta frequency activity in EEG Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 01:03:08+00:00 peter owl:Class GO:0030889 biolink:NamedThing negative regulation of B cell proliferation Any process that stops, prevents or reduces the rate or extent of B cell proliferation. tmpxe7fu0cj_hp_relaxed.owl inhibition of B cell proliferation|negative regulation of B-cell proliferation|negative regulation of B-lymphocyte proliferation|down regulation of B cell proliferation|downregulation of B cell proliferation|down-regulation of B cell proliferation|negative regulation of B lymphocyte proliferation biological_process owl:Class HP:0033882 biolink:NamedThing Arcuate vein intima/medial amyloidosis Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. tmpxe7fu0cj_hp_relaxed.owl Amyloidosis within arcuate vein intima/media 2021-06-23 19:48:45+00:00 peter owl:Class HP:0033879 biolink:NamedThing Abnormal arcuate vein intima/media morphology Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 19:33:08+00:00 peter owl:Class UBERON:0004534 biolink:NamedThing right testis A testis that is in the right side of the genitalia [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl right testicle EMAPA:37371|MA:0001747|NCIT:C49326|OpenCyc:Mx4rvVjM25wpEbGdrcN5Y29ycA|FMA:7211|UMLS:C0227997 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern GO:0097096 biolink:NamedThing facial suture morphogenesis The process in which any suture between facial bones is generated and organized. tmpxe7fu0cj_hp_relaxed.owl pr 2011-07-05T03:06:27Z biological_process owl:Class GO:0097094 biolink:NamedThing craniofacial suture morphogenesis The process in which any suture between cranial and/or facial bones is generated and organized. tmpxe7fu0cj_hp_relaxed.owl pr 2011-07-05T02:51:54Z biological_process owl:Class GO:1905937 biolink:NamedThing negative regulation of germ cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of germ cell proliferation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of germ cell proliferation|inhibition of germ cell proliferation|down regulation of germ cell proliferation|downregulation of germ cell proliferation hbye 2017-02-09T14:51:41Z biological_process owl:Class GO:2000242 biolink:NamedThing negative regulation of reproductive process Any process that stops, prevents, or reduces the frequency, rate or extent of reproductive process. tmpxe7fu0cj_hp_relaxed.owl mah 2010-11-10T02:44:05Z biological_process owl:Class HP:0012825 biolink:NamedThing Mild Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. tmpxe7fu0cj_hp_relaxed.owl Mild UMLS:C1513302|SNOMEDCT_US:446411000124101 PATO:0000394, mild. peter 2014-06-06T06:41:33Z human_phenotype owl:Class HP:0012824 biolink:NamedThing Severity The intensity or degree of a manifestation. tmpxe7fu0cj_hp_relaxed.owl Intensity SNOMEDCT_US:103370009|UMLS:C0522510 Synonymous with PATO:0000049, intensity. peter 2014-06-06T06:39:22Z human_phenotype owl:Class CL:0002082 biolink:NamedThing type II cell of adrenal medulla A chromaffin cell of the adrenal medulla that produces epinephrine. tmpxe7fu0cj_hp_relaxed.owl adremergic chromaffin cell|adrenal secreting cell of the adrenal medulla|epiniphrine secreting cell of the adrenal medulla FMA:69322 tmeehan 2010-07-14T09:41:42Z cell owl:Class CL:0000454 biolink:NamedThing epinephrine secreting cell A cell capable of producing epinephrine. Epiniphrine is synthesized from norepiniphrine by the actions of the phenylethanolamine N-methyltransferase enzyme, which is expressed in the adrenal glands, androgenic neurons, and in other cell types. tmpxe7fu0cj_hp_relaxed.owl epinephrin secreting cell|adrenaline secreting cell cell owl:Class GO:1905747 biolink:NamedThing negative regulation of saliva secretion Any process that stops, prevents or reduces the frequency, rate or extent of saliva secretion. tmpxe7fu0cj_hp_relaxed.owl inhibition of salivation|down-regulation of salivation|down regulation of salivation|downregulation of saliva secretion|inhibition of saliva secretion|negative regulation of salivation|down regulation of saliva secretion|down-regulation of saliva secretion|downregulation of salivation pga 2016-12-09T10:24:00Z biological_process owl:Class GO:0046877 biolink:NamedThing regulation of saliva secretion Any process that modulates the frequency, rate or extent of the regulated release of saliva from a cell or a tissue. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0061337 biolink:NamedThing cardiac conduction Transfer of an organized electrical impulse across the heart to coordinate the contraction of cardiac muscles. The process begins with generation of an action potential (in the sinoatrial node (SA) in humans) and ends with a change in the rate, frequency, or extent of the contraction of the heart muscles. tmpxe7fu0cj_hp_relaxed.owl dph 2010-09-29T08:46:05Z biological_process owl:Class GO:0035637 biolink:NamedThing multicellular organismal signaling The transfer of information occurring at the level of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl multicellular organismal signalling bf 2011-01-14T10:13:50Z biological_process owl:Class UBERON:0010718 biolink:NamedThing pubic cartilage element A pubic endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl pubic cartilage condensation EMAPA:26928|EHDAA2:0001573 uberon owl:Class HP:0005986 biolink:NamedThing Limitation of neck motion tmpxe7fu0cj_hp_relaxed.owl Restricted neck movement|Limited neck mobility|Limitation of neck motion MSH:D009127|UMLS:C1847392|SNOMEDCT_US:161882006|SNOMEDCT_US:405947006|UMLS:C0151315|UMLS:C1320474 owl:Class HP:0025669 biolink:NamedThing Abnormal neck physiology Any functional anomaly of the neck region. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class GO:0098641 biolink:NamedThing cadherin binding involved in cell-cell adhesion Any cadherin binding that occurs as part of the process of cell-cell adhesion. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class UBERON:0005438 biolink:NamedThing coronary sinus The short trunk that recieves most of the cardiac veins carrying the blood from the myocardium and delivers it to the right atrium, with the sinoatrial connection occurring between the inferior vena cava and the atrioventricular orifice. tmpxe7fu0cj_hp_relaxed.owl sinus coronarius EMAPA:37836|EHDAA:9884|EHDAA2:0000320|FMA:4706|NCIT:C32378|UMLS:C0456944 http://upload.wikimedia.org/wikipedia/commons/5/5f/Gray491.png uberon owl:Class The sinus, before entering the auricle, is considerably dilated - nearly to the size of the end of the little finger. Its wall is partly muscular, and at its junction with the great coronary vein is somewhat constricted and furnished with a valve consisting of two unequal segments HP:0010079 biolink:NamedThing Curved distal phalanx of the hallux A deviation from the normal straight form of the distal phalanx of the big toe. tmpxe7fu0cj_hp_relaxed.owl Curved outermost bone of big toe UMLS:C4024066 doelkens 2009-05-29T12:16:28Z human_phenotype owl:Class HP:0006070 biolink:NamedThing Metacarpophalangeal joint contracture A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. tmpxe7fu0cj_hp_relaxed.owl Metacarpal/phalangeal joint contractures UMLS:C2677209 In the literature this has been called metacarpophalangeal camptodactyly, but the term camptodactyly should be researved for a painless flexion contracture of the proximal interphalangeal (PIP) joint. HP:0005674 human_phenotype owl:Class HP:0011911 biolink:NamedThing Abnormality of metacarpophalangeal joint An anomaly of a metacarpophalangeal joint. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the knuckle UMLS:C4023132 peter 2012-06-03T11:03:36Z human_phenotype owl:Class UBERON:0005205 biolink:NamedThing lamina propria of vagina tmpxe7fu0cj_hp_relaxed.owl vagina stroma MA:0002737|FMA:19979|EMAPA:35902 uberon owl:Class GO:2000543 biolink:NamedThing positive regulation of gastrulation Any process that activates or increases the frequency, rate or extent of gastrulation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-04-01T04:10:15Z biological_process owl:Class GO:0010470 biolink:NamedThing regulation of gastrulation Any process that modulates the rate or extent of gastrulation. Gastrulation is the complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025475 biolink:NamedThing Erythematous macule A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 12:43:04+00:00 Numerous tones of red ranging from pink to violaceous are subsumed under the category of erythematous. HPO:probinson owl:Class HP:0033303 biolink:NamedThing Elevated urinary monocarboxylic acid level Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 22:06:48+00:00 peter owl:Class HP:0007039 biolink:NamedThing Symmetric lesions of the basal ganglia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024947 human_phenotype owl:Class HP:0002134 biolink:NamedThing Abnormality of the basal ganglia Abnormality of the basal ganglia. tmpxe7fu0cj_hp_relaxed.owl Basal ganglia disease|Anomaly of the basal ganglia MSH:D001480|UMLS:C0004782|SNOMEDCT_US:70835005 The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal. HP:0006952|HP:0007257 human_phenotype owl:Class UBERON:0016885 biolink:NamedThing epithelium of terminal part of digestive tract Epithelium lining the distalmost portion of the digestive tract. tmpxe7fu0cj_hp_relaxed.owl rectum epithelium BTO:0005445|WBbt:0005800 uberon owl:Class GO:0003156 biolink:NamedThing regulation of animal organ formation Any process that modulates the rate, frequency or extent of animal organ formation. Organ formation is the process pertaining to the initial formation of an organ from unspecified parts. The process begins with the specific processes that contribute to the appearance of the discrete structure, such as inductive events, and ends when the structural rudiment of the organ is recognizable, such as a condensation of mesenchymal cells into the organ rudiment. tmpxe7fu0cj_hp_relaxed.owl tb 2009-09-30T11:21:09Z biological_process owl:Class HP:0002700 biolink:NamedThing Large foramen magnum An abnormal increase in the size of the foramen magnum. tmpxe7fu0cj_hp_relaxed.owl Dilation of foramen magnum|Wide foramen magnum|Increased circumference of foramen magnum|Hyperplasia of foramen magnum|Increased diameter of foramen magnum|enlarged foramen magnum|Big foramen magnum UMLS:C1844508|UMLS:C4280555|UMLS:C4073291|UMLS:C4280554 owl:Class HP:0002699 biolink:NamedThing Abnormal foramen magnum morphology Any abnormality of the foramen magnum. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the foramen magnum UMLS:C4025687 The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. owl:Class HP:0010117 biolink:NamedThing Fragmentation of the epiphyses of the hallux tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the big toe bone UMLS:C4024042 doelkens 2009-05-29T01:16:38Z human_phenotype owl:Class PATO:0000470 biolink:NamedThing increased amount An amount which is relatively high. tmpxe7fu0cj_hp_relaxed.owl increased|accessory|supernumerary|increased number|present in greater numbers in organism PATO:0000650|PATO:0000420 quality owl:Class GO:0002725 biolink:NamedThing negative regulation of T cell cytokine production Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell cytokine production. tmpxe7fu0cj_hp_relaxed.owl negative regulation of T-cell cytokine production|negative regulation of T-lymphocyte cytokine production|down regulation of T cell cytokine production|down-regulation of T cell cytokine production|downregulation of T cell cytokine production|inhibition of T cell cytokine production|negative regulation of T lymphocyte cytokine production biological_process owl:Class GO:0002710 biolink:NamedThing negative regulation of T cell mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell mediated immunity. tmpxe7fu0cj_hp_relaxed.owl down-regulation of T cell mediated immunity|downregulation of T cell mediated immunity|negative regulation of T-cell mediated immunity|down regulation of T cell mediated immunity|negative regulation of T lymphocyte mediated immunity|inhibition of T cell mediated immunity|negative regulation of T-lymphocyte mediated immunity biological_process owl:Class HP:0001055 biolink:NamedThing Erysipelas Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system. tmpxe7fu0cj_hp_relaxed.owl St. Anthony's Fire MEDDRA:10015145|SNOMEDCT_US:44653001|MSH:D004886|SNOMEDCT_US:51510002|UMLS:C0014733|UMLS:C0014714|MSH:D004881 human_phenotype owl:Class GO:0002609 biolink:NamedThing positive regulation of myeloid dendritic cell antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of myeloid dendritic cell antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl upregulation of myeloid dendritic cell antigen processing and presentation|up regulation of myeloid dendritic cell antigen processing and presentation|stimulation of myeloid dendritic cell antigen processing and presentation|up-regulation of myeloid dendritic cell antigen processing and presentation|activation of myeloid dendritic cell antigen processing and presentation biological_process owl:Class HP:0010954 biolink:NamedThing Hypoplastic right heart Underdevelopment of the right-sided structures of the heart. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped right heart|Hypoplastic right heart syndrome SNOMEDCT_US:39589002|UMLS:C0265856|UMLS:C0344963|SNOMEDCT_US:268180007 Hypoplastic right heart syndrome (HRHS) causes inadequate blood flow to the lungs postnatally and thus leads to cyanosis. HRHS involves pulmonary valve atresia, hypoplasia of the right ventricle, hypoplasia of the tricuspid valve, and a small, hypoplastic pulmonary artery. As the ductus arteriosus closes postnatally, infants with HRHS become critically ill. peter 2011-01-17T03:31:37Z human_phenotype owl:Class HP:0011723 biolink:NamedThing Congenital malformation of the right heart Defect or defects of the morphogenesis of the right heart identifiable at birth. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023219 peter 2012-04-11T08:56:19Z human_phenotype owl:Class HP:0012031 biolink:NamedThing Lipomatous tumor tmpxe7fu0cj_hp_relaxed.owl Lipomatous tumour SNOMEDCT_US:115227001|SNOMEDCT_US:254831005|MPATH:415|UMLS:C0206631|SNOMEDCT_US:254827004|MSH:D018205 peter 2012-07-27T01:32:28Z owl:Class GO:0015874 biolink:NamedThing norepinephrine transport The directed movement of norepinephrine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Norepinephrine (3,4-dihydroxyphenyl-2-aminoethanol) is a hormone secreted by the adrenal medulla and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS. It is also the biosynthetic precursor of epinephrine. tmpxe7fu0cj_hp_relaxed.owl levarterenol transport|noradrenaline transport biological_process owl:Class HP:0030312 biolink:NamedThing Obliteration of the calvarial diploe Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe). tmpxe7fu0cj_hp_relaxed.owl Obliteration of cranial cancellous bone UMLS:C1860855 owl:Class HP:0012450 biolink:NamedThing Chronic constipation Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. tmpxe7fu0cj_hp_relaxed.owl Chronic constipation|Infrequent bowel movements SNOMEDCT_US:236069009|UMLS:C0401149 peter 2013-11-23T04:03:43Z human_phenotype owl:Class HP:0002019 biolink:NamedThing Constipation Infrequent or difficult evacuation of feces. tmpxe7fu0cj_hp_relaxed.owl Dyschezia|Constipation|Costiveness UMLS:C0009806|MSH:D003248|SNOMEDCT_US:225595004|SNOMEDCT_US:14760008|UMLS:C0237326 HP:0002241|HP:0003786 human_phenotype owl:Class HP:0001027 biolink:NamedThing Soft, doughy skin A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. tmpxe7fu0cj_hp_relaxed.owl Soft, doughy skin UMLS:C1849043 owl:Class HP:0000977 biolink:NamedThing Soft skin Subjective impression of increased softness upon palpation of the skin. tmpxe7fu0cj_hp_relaxed.owl Velvety skin|Soft skin|Velvety skin texture UMLS:C0241178|UMLS:C1844592 owl:Class GO:0055074 biolink:NamedThing calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl regulation of calcium ion concentration biological_process owl:Class HP:0002987 biolink:NamedThing Elbow flexion contracture A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow. tmpxe7fu0cj_hp_relaxed.owl Contractures of the elbows|Contractures of elbows|Elbow contractures|Elbow flexion deformity|Elbow flexion contractures|Contracture of elbow joint|Fixed flexion at the elbow joint|Elbow contracture SNOMEDCT_US:202271004|UMLS:C0409338 HP:0004984|HP:0005654|HP:0003937 human_phenotype owl:Class HP:0100360 biolink:NamedThing Contractures of the joints of the upper limbs tmpxe7fu0cj_hp_relaxed.owl UMLS:C2750635 doelkens 2010-11-11T04:18:29Z owl:Class UBERON:0006267 biolink:NamedThing notochordal plate The notochordal plate is the dorsal part of the notochordal process when the ventral portion breaks down. It is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube. The folding off of the notochordal plate gives rise to the notochord. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001278|VHOG:0001212|EMAPA:16101|EHDAA:264|UMLS:C1518429|NCIT:C34231 TODO - check ordering; awaiting confirmation from JB uberon owl:Class The notochordal plate is the dorsal part of the notochordal process when the ventral portion breaks down. It is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube. The folding off of the notochordal plate gives rise to the notochord. [Carson_JL, Dehart_DB, Developmental_Dynamics_(1994)_201:_260-278, Gesteland_K_and_Schoenwolf_GC, Inagaki_T, Morphogenesis_of_the_murine_node_and_notochordal_plate, The_prechordal_plate, Vrablic_T, see_Mueller_F_and_O'Rahilly_R, the_rostral_end_of_the_notochord_and_nearby_median_features_in_staged_human_embryos._Cells_Tissues_Organs_(2003)_173:_1-20_and_Sulik_K][VHOG] HP:0005247 biolink:NamedThing Hypoplasia of the abdominal wall musculature Underdevelopment of the abdominal musculature. tmpxe7fu0cj_hp_relaxed.owl Abdominal muscular hypoplasia UMLS:C3279407 human_phenotype owl:Class HP:0010318 biolink:NamedThing Aplasia/Hypoplasia of the abdominal wall musculature Absence or underdevelopment of the abdominal musculature. tmpxe7fu0cj_hp_relaxed.owl Absent/small abdominal wall muscles|Absent/underdeveloped abdominal wall muscles UMLS:C4023909 peter 2009-07-14T11:51:46Z human_phenotype owl:Class GO:1900131 biolink:NamedThing negative regulation of lipid binding Any process that stops, prevents or reduces the frequency, rate or extent of lipid binding. tmpxe7fu0cj_hp_relaxed.owl inhibition of lipid binding|downregulation of lipid binding|down regulation of lipid binding|down-regulation of lipid binding pm 2012-02-23T04:05:07Z biological_process owl:Class GO:0051100 biolink:NamedThing negative regulation of binding Any process that stops or reduces the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. tmpxe7fu0cj_hp_relaxed.owl downregulation of binding|inhibition of binding|down-regulation of binding|down regulation of binding biological_process owl:Class HP:0003584 biolink:NamedThing Late onset A type of adult onset with onset of symptoms after the age of 60 years. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025592 human_phenotype owl:Class GO:0051495 biolink:NamedThing positive regulation of cytoskeleton organization Any process that activates or increases the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpxe7fu0cj_hp_relaxed.owl positive regulation of cytoskeleton organisation|up-regulation of cytoskeleton organization|stimulation of cytoskeleton organization|upregulation of cytoskeleton organization|positive regulation of cytoskeleton organization and biogenesis|activation of cytoskeleton organization|up regulation of cytoskeleton organization biological_process owl:Class GO:0051493 biolink:NamedThing regulation of cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpxe7fu0cj_hp_relaxed.owl regulation of cytoskeleton organization and biogenesis|regulation of cytoskeleton organisation biological_process owl:Class UBERON:0002722 biolink:NamedThing trochlear nucleus Nucleus in the midbrain at the level of the inferior colliculus near the midline, containing the motor neurons giving rise to the trochlear nerve, innervating the contralateral superior oblique extraocular muscle of the eye (Brodal, Neurological Anatomy, 3rd ed, 1981, pg. 533). tmpxe7fu0cj_hp_relaxed.owl trochlear motor nucleus|nucleus nervi trochlearis|fourth cranial nerve nucleus|nIV|trochlear IV nucleus|motor nucleus IV|nucleus of trochlear nerve http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=513|DHBA:12206|UMLS:C0152406|BIRNLEX:1488|MBA:115|EV:0100251|BM:MB-IV|ZFA:0000450|DMBA:16903|EMAPA:35886|TAO:0000450|BAMS:4N|BAMS:IV|MA:0001075|BAMS:4|FMA:54518|HBA:9063 http://upload.wikimedia.org/wikipedia/commons/c/c6/Drn.png|http://upload.wikimedia.org/wikipedia/en/thumb/c/c6/Drn.png/200px-Drn.png uberon owl:Class UBERON:0000126 biolink:NamedThing cranial nerve nucleus Nucleus that receives projections from or contains neurons that send projections through one of the cranial nerves. tmpxe7fu0cj_hp_relaxed.owl nucleus of cranial nerve|cranial neural nucleus|nucleus nervi cranialis Wikipedia:Cranial_nerve_nucleus|EMAPA:37066|NLX:28532|SCTID:280160003|FMA:54501 http://upload.wikimedia.org/wikipedia/commons/3/30/Gray696.png uberon owl:Class HP:0005354 biolink:NamedThing Lack of T cell function Complete inability of T cells to perform their functions in cell-mediated immunity. tmpxe7fu0cj_hp_relaxed.owl Absent cellular immunity UMLS:C1849426 human_phenotype owl:Class HP:0011840 biolink:NamedThing Abnormality of T cell physiology A functional anomaly of T cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023166 peter 2012-05-06T10:44:50Z HP:0005402 human_phenotype owl:Class CHEBI:57606 biolink:NamedThing 5-oxoprolinate The conjugate base of 5-oxoproline. tmpxe7fu0cj_hp_relaxed.owl 5-oxoprolinate anion|Pyroglutamate|5-oxopyrrolidine-2-carboxylate|5-oxoproline -1 C5H6NO3 InChI=1S/C5H7NO3/c7-4-2-1-3(6-4)5(8)9/h3H,1-2H2,(H,6,7)(H,8,9)/p-1 ODHCTXKNWHHXJC-UHFFFAOYSA-M 128.10600 128.03532 [O-]C(=O)C1CCC(=O)N1 Beilstein:4135383|Gmelin:327019 chebi_ontology owl:Class UBERON:0015848 biolink:NamedThing incisor tusk An incisor tooth that protrudes beyond the mouth. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0031531 biolink:NamedThing Sub-RPE deposits Deposits accumulating between the retinal pigment epithelium and Bruch's membrane. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 00:50:33+00:00 This feature is related to Subretinal hyporeflective spaces on macular OCT. peter owl:Class HP:0031353 biolink:NamedThing Otitis media with effusion Otitis media characterized by thick or sticky fluid behind the tympanic membrane. tmpxe7fu0cj_hp_relaxed.owl Fluid behind eardrum 2017-08-27 14:53:18+00:00 peter owl:Class HP:0000388 biolink:NamedThing Otitis media Inflammation or infection of the middle ear. tmpxe7fu0cj_hp_relaxed.owl Middle ear infection MSH:D010033|SNOMEDCT_US:65363002|UMLS:C0029882 human_phenotype owl:Class PATO:0002323 biolink:NamedThing temporal distribution quality A temporal distribution pattern of process occurrences within a regulation/reference process. tmpxe7fu0cj_hp_relaxed.owl 2011-11-22T01:12:28Z quality owl:Class PATO:0002062 biolink:NamedThing physical quality of a process tmpxe7fu0cj_hp_relaxed.owl 2009-06-05T09:16:46Z quality owl:Class HP:0004466 biolink:NamedThing Prolonged brainstem auditory evoked potentials tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025322 human_phenotype owl:Class UBERON:0009030 biolink:NamedThing left pulmonary vein Vein that drains left lung and returns blood to the heart. tmpxe7fu0cj_hp_relaxed.owl NCIT:C48946|SCTID:304057004|EMAPA:37165|MA:0002207|UMLS:C0226670 uberon owl:Class A vein that returns oxygenated blood from the left lung to the left atrium of the heart[ncithesaurus:Left_Pulmonary_Vein]. GO:0060044 biolink:NamedThing negative regulation of cardiac muscle cell proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle cell proliferation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of heart muscle cell proliferation biological_process owl:Class HP:0003344 biolink:NamedThing 3-Methylglutaric aciduria tmpxe7fu0cj_hp_relaxed.owl 3-methylglutaricaciduria UMLS:C3151952 human_phenotype owl:Class UBERON:0005440 biolink:NamedThing ductus arteriosus A fetal blood vessel connecting the pulmonary artery with the descending aorta[MESH]. In the developing fetus, the ductus arteriosus is a shunt connecting the pulmonary artery to the aortic arch. It allows most of the blood from the right ventricle to bypass the fetus' fluid-filled lungs, protecting the lungs from being overworked and allowing the left ventricle to strengthen. There are two other fetal shunts, the ductus venosus and the foramen ovale[MP]. the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth[MP]. tmpxe7fu0cj_hp_relaxed.owl fetal ductus arteriosus|ductus layton|ductus arteriosis|ductus Botallo|Botallo's duct|ductus arteriosum|arterial duct|ductus botalli|arterial canal EHDAA2:0000420|UMLS:C0013273|EMAPA:17858|EHDAA:6462|FMA:79871|NCIT:C52854|VHOG:0000923|MA:0001947|MESH:D004373|galen:DuctusArteriosus|EFO:0002515 http://upload.wikimedia.org/wikipedia/commons/e/ee/Gray502.png uberon owl:Class The temporary channel or blood vessel between the aorta and pulmonary artery in the fetus. [TFD][VHOG] On the other hand, in the sister clade of the actinopterygians, the sarcopterygians, the gill circulation is supplemented with lung ventilation. As a result, the pulmonary artery and vein and a functional ductus arteriosus arose as a major evolutionary innovation from the sixth arch, giving the organism a flexible shunt to balance blood supply to and from gills and lungs according to environmental conditions.[well established][VHOG] UBERON:0003498 biolink:NamedThing heart blood vessel A blood vessel that is part of a heart [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl cardiac blood vessel|blood vessel of heart EMAPA:35397|MA:0002483 uberon owl:Class CL:0000838 biolink:NamedThing lymphoid lineage restricted progenitor cell A progenitor cell restricted to the lymphoid lineage. tmpxe7fu0cj_hp_relaxed.owl lymphoid progenitor cell FMA:70338|BTO:0004731|CALOHA:TS-2025 Note that this is a class of cell types, not an identified single cell type. cell owl:Class CL:0002031 biolink:NamedThing hematopoietic lineage restricted progenitor cell A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2010-01-06T03:43:20Z cell owl:Class HP:0031877 biolink:NamedThing Elevated hepcidin level An abnormally increased concentration of hepcidin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2018-05-06 14:13:19+00:00 peter owl:Class GO:0005938 biolink:NamedThing cell cortex The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. tmpxe7fu0cj_hp_relaxed.owl peripheral cytoplasm|cell periphery Wikipedia:Cell_cortex cellular_component owl:Class HP:0009565 biolink:NamedThing Aplasia of the distal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Absent terminal index finger phalanx|Absent outermost index finger bone UMLS:C4021439 doelkens 2009-01-28T04:20:22Z HP:0004141|HP:0005748 human_phenotype owl:Class UBERON:0011925 biolink:NamedThing preganglionic autonomic fiber Nerve fibers which project from the central nervous system to autonomic ganglia. In the sympathetic division most preganglionic fibers originate with neurons in the intermediolateral column of the spinal cord, exit via ventral roots from upper thoracic through lower lumbar segments, and project to the paravertebral ganglia; there they either terminate in synapses or continue through the splanchnic nerves to the prevertebral ganglia. In the parasympathetic division the fibers originate in neurons of the brain stem and sacral spinal cord. In both divisions the principal transmitter is acetylcholine but peptide cotransmitters may also be released. tmpxe7fu0cj_hp_relaxed.owl preganglionic nerve fiber|preganglionic autonomic fibre MESH:A08.663.542.122|FMA:5923|NCIT:C12624|Wikipedia:Preganglionic_nerve_fibers uberon owl:Class UBERON:0003041 biolink:NamedThing trigeminal nerve fibers A nerve fiber that is part of a trigeminal nerve. tmpxe7fu0cj_hp_relaxed.owl trigeminal nerve fibers|fibrae nervi trigemini|trigeminal nerve tract|central part of trigeminal nerve UMLS:C0175452|FMA:72501|BIRNLEX:974|BAMS:5nf|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=607 uberon owl:Class PR:P00450 biolink:NamedThing ceruloplasmin (human) A ceruloplasmin that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl CP|hCP|ferroxidase (human) UniProtKB:P00450 Category=organism-gene. protein owl:Class UBERON:0001619 biolink:NamedThing ophthalmic artery The ophthalmic artery is a branch of the internal carotid artery which supplies branches to supply the eye and other structures in the orbit. It enters the orbit together with the Optic nerve through the Optic foramen/canal. [WP,modified]. tmpxe7fu0cj_hp_relaxed.owl arteria ophthalmica|opthalmic artery MESH:D009880|AAO:0010497|UMLS:C0029078|NCIT:C33216|OpenCyc:Mx4rvcCxpJwpEbGdrcN5Y29ycA|MA:0002011|FMA:49868|EHDAA2:0001300|EHDAA:7363|XAO:0000368|GAID:503|EMAPA:17007 http://upload.wikimedia.org/wikipedia/commons/c/ce/Gray514.png uberon owl:Class Part of internal carotid which carries blood via branches to the eye, the eye muscles, and eyelids.[AAO] relationship loss: part_of internal carotid (AAO:0010219)[AAO] MAXO:0010205 biolink:NamedThing lung ultrasonography The use of ultrasound to produce images of structures in the lung. tmpxe7fu0cj_hp_relaxed.owl sonography of lung|lung ultrasound procedure|ultrasonography of lung|lung ultrasound imaging procedure|lung diagnostic sonography|lung ultrasound examination|lung medical ultrasound|lung sonography 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-2969 owl:Class HP:0010732 biolink:NamedThing Nodular changes affecting the eyelids Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. tmpxe7fu0cj_hp_relaxed.owl Eyelid nodules UMLS:C4023716 doelkens 2010-04-21T05:11:04Z human_phenotype owl:Class HP:0200036 biolink:NamedThing Skin nodule Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. tmpxe7fu0cj_hp_relaxed.owl Growth of abnormal tissue on or under the skin SNOMEDCT_US:95319004|UMLS:C0037287 A nodule is a palpable, solid, round lesion in the deep skin or subcuteaneous tissues that is larger and deeper than a papule. Nodules are solid circumscribed masses. A common definition is that a skin nodule has a diameter of more than 5 mm in infants and more than 10 mm in older children. sebastiankohler 2010-06-18T01:48:50Z human_phenotype owl:Class HP:0100885 biolink:NamedThing Lateral venous anomaly Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life. tmpxe7fu0cj_hp_relaxed.owl Lateral marginal vein of Servelle|Vein of servelle UMLS:C4020945 doelkens 2011-12-01T03:16:02Z human_phenotype owl:Class HP:0003897 biolink:NamedThing Irregular ossification of the humeral epiphyses tmpxe7fu0cj_hp_relaxed.owl Irregular maturation of the end part of the long bone in upper arm UMLS:C4025523|UMLS:C4280542 human_phenotype owl:Class HP:0012791 biolink:NamedThing Abnormal humeral ossification An anomaly of the process of formation of bone in the humerus. tmpxe7fu0cj_hp_relaxed.owl Abnormal maturation of long bone in upper arm UMLS:C4022722 peter 2014-04-24T10:23:43Z human_phenotype owl:Class UBERON:0007592 biolink:NamedThing ciliated columnar epithelium Simple columnar epithelium in which the luminal side of the cells bears cilia. Examples: epithelium of trachea, epithelium of uterine tube.[FMA]. tmpxe7fu0cj_hp_relaxed.owl FMA:64798 uberon owl:Class In humans, Ciliated columnar epithelial cells are found mainly in the tracheal and bronchial regions of the pulmonary system and also in the fallopian tubes of the female reproductive system Ciliated columnar epithelium in the pulmonary system is interspersed with goblet cells that secrete mucous to form a mucosal layer apical to the epithelial layer. The rowing-like action of epithelial cilia work in tandem with goblet cells to propel mucus away from the lungs, preventing particulate matter from causing infection[http://www.bio.davidson.edu/people/kabernd/berndcv/lab/epithelialinfoweb/ciliated%20columnar%20epithelium.html] CL:0002240 biolink:NamedThing marrow fibroblast A fibroblast in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl FMA:84377 tmeehan 2010-09-07T02:25:18Z cell owl:Class CL:0000057 biolink:NamedThing fibroblast A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped. tmpxe7fu0cj_hp_relaxed.owl FMA:63877|VHOG:0001482|CALOHA:TS-0362|BTO:0000452 These cells may be vimentin-positive, fibronectin-positive, fsp1-positive, MMP-1-positive, collagen I-positive, collagen III-positive, and alpha-SMA-negative. cell owl:Class HP:0007536 biolink:NamedThing Aplasia cutis congenita of midline scalp vertex tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024849 human_phenotype owl:Class HP:0004471 biolink:NamedThing Aplasia cutis congenita over the scalp vertex A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline. tmpxe7fu0cj_hp_relaxed.owl Aplasia cutis congenita of vertex|Absent cutis congenita of vertex UMLS:C1970112 human_phenotype owl:Class HP:0032772 biolink:NamedThing Focal impaired awareness autonomic seizure with piloerection A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0012139 biolink:NamedThing Granulocytic hypoplasia Decreased number of granulocyte precursors in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1534864|SNOMEDCT_US:416627004 peter 2012-09-16T08:09:56Z human_phenotype owl:Class HP:0012137 biolink:NamedThing Abnormal number of granulocyte precursors tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023029 peter 2012-09-16T08:09:13Z human_phenotype owl:Class CL:0001061 biolink:NamedThing abnormal cell A cell found in an organism or derived from an organism exhibiting a phenotype that deviates from the expected phenotype of any native cell type of that organism. Abnormal cells are typically found in disease states or disease models. tmpxe7fu0cj_hp_relaxed.owl 2017-01-30 18:53:32+00:00 https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C12913 https://github.com/obophenotype/cell-ontology/issues/448 cell owl:Class PATO:0001662 biolink:NamedThing fragility A structural quality inhering in a bearer by virtue of the bearer's disposition to being damaged or destroyed. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class UBERON:0015842 biolink:NamedThing incisor enamel organ A tooth enamel organ that is part of a incisor tooth. tmpxe7fu0cj_hp_relaxed.owl EMAPA:32895|MA:0003227 uberon owl:Class UBERON:0005176 biolink:NamedThing tooth enamel organ A circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth. tmpxe7fu0cj_hp_relaxed.owl dental organ|odontogenic organ|enamel organ|organum enameleum MA:0001604|TAO:0005138|CALOHA:TS-0271|BTO:0001722|ZFA:0005138|MESH:A14.254.900.720.265|FMA:312389|EMAPA:32888 . Alternate definition: A cellular aggregation seen in histologic sections of a developing tooth. It lies above a condensation of ectomesenchymal cells called the odontogenic papilla. uberon owl:Class A structure that is involved in tooth formation. A bell shape two layer epithelial structure that descends toward the ceratobranchial 5 bone, enclosing the dental mesenchyme. At later times in tooth development the cells at the apex of the bell may be involved in enameloid formation. This structure remains at the base of the erupted tooth and is the source of replacement teeth.[TAO] NOT develops_from NC[https://github.com/obophenotype/uberon/wiki/The-neural-crest] Historically, enamel organ has been the term to describe this structure, but it was attempted unsuccessfully in recent years to change the name to dental organ in order to better represent its multiple functions apart from enamel formation HP:0007293 biolink:NamedThing Anterior sacral meningocele tmpxe7fu0cj_hp_relaxed.owl UMLS:C1867776 human_phenotype owl:Class HP:0005765 biolink:NamedThing Sacral meningocele tmpxe7fu0cj_hp_relaxed.owl UMLS:C0521556|SNOMEDCT_US:95478002 human_phenotype owl:Class HP:0003861 biolink:NamedThing Broad diaphyses of the upper limbs tmpxe7fu0cj_hp_relaxed.owl Wide diaphyses of the upper limbs|Wide shaft of long bone of the upper limbs|Broad shaft of long bone of the upper limbs UMLS:C4021718 human_phenotype owl:Class HP:0009808 biolink:NamedThing Anomaly of the upper limb diaphyses A structural abnormality of a diaphysis of the arm. tmpxe7fu0cj_hp_relaxed.owl Abnormality involving the diaphyses of the upper limbs|Abnormality of shaft of long bone of the upper limbs|Diaphyseal abnormality of the upper limbs UMLS:C4021389 doelkens 2009-02-23T04:55:36Z HP:0003857 human_phenotype owl:Class UBERON:5006051 biolink:NamedThing digit 4 plus metapodial segment A subdivision of the autopod consisting of digit 4 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl digit 4 digitopodial subdivision|digit IV plus metapodial segment|digit 4 ( phalanges plus metapodial) plus soft tissue|digit 4|digit 4 ray this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class UBERON:5002544 biolink:NamedThing digit plus metapodial segment A subdivision of the autopod consisting of digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl digit digitopodial subdivision|digit ray|digit ( phalanges plus metapodial) plus soft tissue|digit this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class HP:0031126 biolink:NamedThing Impaired clot retraction Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 12:31:10+00:00 peter owl:Class HP:0011869 biolink:NamedThing Abnormal platelet function Any anomaly in the function of thrombocytes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0855740 peter 2012-05-30T05:32:11Z human_phenotype owl:Class HP:0031294 biolink:NamedThing Hypoplastic right atrium Underdeveloped, small right heart atrium. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 21:36:55+00:00 peter owl:Class HP:0025580 biolink:NamedThing Abnormal right atrium morphology Any structural abnormality of the right atrium. tmpxe7fu0cj_hp_relaxed.owl 2017-12-15 23:56:01+00:00 Fyler:1770 HPO:probinson owl:Class HP:0009989 biolink:NamedThing Duplication of the middle phalanx of the 5th finger Partial or complete duplication of the fifth middle phalanx of hand. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the middle phalanx of the 5th finger|Duplication of the middle little finger bone|Duplication of the middle pinky finger bone|Duplication of the middle pinkie finger bone UMLS:C4021352 doelkens 2009-05-26T02:24:20Z human_phenotype owl:Class HP:0009985 biolink:NamedThing Duplication of phalanx of 5th finger This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of little finger bone|Partial/complete duplication of pinkie finger bone|Partial/complete duplication of phalanges of the 5th finger|Partial/complete duplication of pinky finger bone UMLS:C4021354 doelkens 2009-05-26T02:23:38Z human_phenotype owl:Class GO:0030421 biolink:NamedThing defecation The expulsion of feces from the rectum. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Defecation biological_process owl:Class GO:0007588 biolink:NamedThing excretion The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/22368 Wikipedia:Excretion biological_process owl:Class HP:0030577 biolink:NamedThing Pinhole visual acuity 0.9 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073050 owl:Class HP:0030535 biolink:NamedThing Abnormal pinhole visual acuity test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073009 owl:Class HP:0002359 biolink:NamedThing Frequent falls tmpxe7fu0cj_hp_relaxed.owl Frequent falls UMLS:C0850703 human_phenotype owl:Class HP:0002311 biolink:NamedThing Incoordination tmpxe7fu0cj_hp_relaxed.owl Incoordination of limb movements|Difficulties in coordination|Limb incoordination|Incoordination UMLS:C0520966|SNOMEDCT_US:281016006|MSH:D001259|SNOMEDCT_US:302289002 HP:0002276 human_phenotype owl:Class UBERON:0002367 biolink:NamedThing prostate gland The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid. tmpxe7fu0cj_hp_relaxed.owl male prostate|prostata|prostate galen:ProstateGland|MA:0000404|MESH:D011467|MAT:0000078|VHOG:0001261|EFO:0000858|BTO:0001129|UMLS:C0033572|CALOHA:TS-0828|GAID:392|EV:0100104|NCIT:C12410|FMA:9600|MIAA:0000078|OpenCyc:Mx4rv6trqZwpEbGdrcN5Y29ycA|EMAPA:19287 http://upload.wikimedia.org/wikipedia/commons/a/a1/Prostatelead.jpg TODO - FMA treats the gland as part of the prostate - see also FMA:74119. uberon owl:Class prostatic UBERON:0010147 biolink:NamedThing male accessory sex gland Any gland, other than the gonad, associated with the genital tract, such as the ampulla of the ductus deferens and the bulbourethral, prostate and vesicular glands of the male. tmpxe7fu0cj_hp_relaxed.owl male accessory gland|male accessory reproductive gland BTO:0004798 uberon owl:Class HP:0031591 biolink:NamedThing Enlarged Eustachian valve An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava. tmpxe7fu0cj_hp_relaxed.owl Giant Eustachian valve|Enlarged inferior vena cava valve 2017-10-15 12:51:38+00:00 During fetal life, the eustachian valve directs oxygen-rich blood from the inferior vena cava (IVC) toward the foramen ovale and away from the tricuspid valve. After the closure of the foramen ovale, it does not have a specific function. In echocardiographic examinations, the eustachian valve may appear as a thin flap originating from the orifice of the IVC, or it may be totally absent. Sometimes it may appear as a rigid, elongated structure in the inferior portion of the right atrium or as a membranous, undulating, echogenic mass within the right atrial cavity. peter owl:Class HP:0025576 biolink:NamedThing Abnormal inferior vena cava morphology Any structural anomaly of the principal vein draining blood from the lower portion of the body. tmpxe7fu0cj_hp_relaxed.owl 2017-12-15 23:02:17+00:00 Fyler:2810 HPO:probinson owl:Class UBERON:0006648 biolink:NamedThing adventitia of seminal vesicle An adventitia that is part of a seminal vesicle. tmpxe7fu0cj_hp_relaxed.owl tunica adventitia (vesicula seminalis)|seminal vesicle adventitia|tunica adventitia glandulae vesiculosae|adventitia of seminal gland FMA:19403|EMAPA:29775 uberon owl:Class HP:0100166 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in of the end part of the innermost bone of the 3rd toe UMLS:C4022255 doelkens 2010-06-24T10:24:45Z human_phenotype owl:Class HP:0100064 biolink:NamedThing Stippling of the epiphyses of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the 3rd toe bone UMLS:C4022357 doelkens 2010-06-24T09:58:55Z human_phenotype owl:Class UBERON:0001436 biolink:NamedThing phalanx of manus A phalanx that is part of a forelimb autopod[Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl phalanx of digit of hand|finger phalanx|manual phalanx|phalanx of hand digit|phalanx of hand|phalanx of fore digit|hand phalanx|bone of finger|phalanges of fore digit|phalanx of manual digit|digital bone of manus|digitus manus phalanx|hand digit phalanx|phalanx of finger|phalanx of digitus manus FMA:23914|NCIT:C52771|MA:0000306|UMLS:C0223792|AAO:0000947|EMAPA:32650 uberon owl:Class Dumb-bell shaped bones of endochondral origin with cartilaginous epiphyses that make the four digits of the manus. The terminal phalanges are much smaller than the proximal and penultimate phalanges. The typical phalangeal formula of the manus, in a medial to lateral sequence, is 2-2-3-3.[AAO] HP:0100837 biolink:NamedThing Atrophodermia vermiculata Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions. tmpxe7fu0cj_hp_relaxed.owl Vermiculata atrophoderma UMLS:C0263428|SNOMEDCT_US:400126005|MSH:C537412|SNOMEDCT_US:400059005 The onset of atrophodermia vermiculata is usually between the ages of 5 and 12 years. doelkens 2011-06-09T06:20:04Z human_phenotype owl:Class UBERON:0004367 biolink:NamedThing Descemet's membrane A transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea[MP]. tmpxe7fu0cj_hp_relaxed.owl lamina limitans posterior|posterior limiting membrane|lamina limitans posterior corneae|Descemet's posterior elastic lamina|Descemet membrane|posterior limiting lamina|posterior limiting lamina of cornea NCIT:C32454|GAID:894|SCTID:281076002|FMA:58309|EMAPA:18804|UMLS:C0011665|ZFA:0001686|MA:0001246|MESH:D003886|Wikipedia:Descemet%27s_membrane|TAO:0002157 The strong, resistant, thin, noncellular fourth layer of the cornea, located between the endothelium (from which it is secreted) and the stroma. (Cline et al., Dictionary of Visual Science, 4th ed) uberon https://github.com/obophenotype/uberon/issues/15 owl:Class Acellular anatomical structure composed of collagen, Descemet's membrane is secreted as a basement membrane of the corneal endothelium. Located between the stroma and the corneal endothelium, it is approximately 0.15 micrometer thick at 6 months post-fertilization.[ZFIN] UBERON:0018596 biolink:NamedThing lower lateral primary incisor tooth A lower primary incisor tooth that is in_the_lateral_side_of a dentition. tmpxe7fu0cj_hp_relaxed.owl lower lateral deciduous incisor tooth|mandibular lateral primary incisor|deciduous lower lateral incisor tooth|lower primary tooth B FMA:84219 uberon owl:Class UBERON:0018602 biolink:NamedThing lower lateral incisor tooth An incisor tooth that is in_the_lateral_side_of a dentition and is part of a lower jaw region. tmpxe7fu0cj_hp_relaxed.owl mandibular lateral incisor|lower lateral incisor FMA:290197 uberon owl:Class HP:0004894 biolink:NamedThing Laryngotracheal stenosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C3806280 human_phenotype owl:Class HP:0001602 biolink:NamedThing Laryngeal stenosis Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0023075|MSH:D007829|SNOMEDCT_US:75547007 owl:Class CHEBI:26167 biolink:NamedThing polar amino acid Any amino acid whose side chain is capable of forming one or more hydrogen bonds. tmpxe7fu0cj_hp_relaxed.owl polar amino acids|polar amino-acid|polar amino-acids|polar amino acid 0 C2H4NO2R 74.059 74.02420 OC(C(*)N)=O MetaCyc:Polar-amino-acids|PMID:12016058 CHEBI:8283 chebi_ontology owl:Class GO:0042417 biolink:NamedThing dopamine metabolic process The chemical reactions and pathways involving dopamine, a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. tmpxe7fu0cj_hp_relaxed.owl dopamine metabolism biological_process owl:Class GO:0006807 biolink:NamedThing nitrogen compound metabolic process The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. tmpxe7fu0cj_hp_relaxed.owl nitrogen compound metabolism biological_process owl:Class UBERON:0010256 biolink:NamedThing 4th arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 4th arch mesenchyme. tmpxe7fu0cj_hp_relaxed.owl pharyngeal arch 4 mesenchyme from neural crest|neural crest derived arch 4 mesenchyme|mesenchyme derived from neural crest of mesenchyme of 4th arch|branchial arch 4 mesenchyme from neural crest|4th pharyngeal arch mesenchyme derived from neural crest EMAPA:16772|EHDAA2:0000098|VHOG:0000580 uberon owl:Class In all vertebrates, the pharyngeal apparatus develops from a series of bulges found on the lateral surface of the head, the pharyngeal arches, which consist of a number of different embryonic cell types. Each arch has an external covering of ectoderm and inner covering of endoderm, and between these a mesenchymal filling of neural crest with a central core of mesoderm.[well established][VHOG] UBERON:0005691 biolink:NamedThing 4th arch mesenchyme Mesenchyme that is part of a pharyngeal arch 4. tmpxe7fu0cj_hp_relaxed.owl 4th pharyngeal arch mesenchyme|4th branchial arch mesenchyme|pharyngeal arch 4 mesenchyme EMAPA:16770|EHDAA2:0000096|VHOG:0001052|FMA:295702|EHDAA:1677 uberon owl:Class In all vertebrates, the pharyngeal apparatus develops from a series of bulges found on the lateral surface of the head, the pharyngeal arches, which consist of a number of different embryonic cell types. Each arch has an external covering of ectoderm and inner covering of endoderm, and between these a mesenchymal filling of neural crest with a central core of mesoderm.[well established][VHOG] UBERON:0010884 biolink:NamedThing forelimb bone pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a forelimb bone. tmpxe7fu0cj_hp_relaxed.owl wing bone pre-cartilage condensation EMAPA:32625 uberon owl:Class GO:1905126 biolink:NamedThing regulation of axo-dendritic protein transport Any process that modulates the frequency, rate or extent of axo-dendritic protein transport. tmpxe7fu0cj_hp_relaxed.owl regulation of axonal protein transport sl 2016-04-11T20:38:31Z biological_process owl:Class CL:0000811 biolink:NamedThing CD8-positive, alpha-beta thymocyte An immature alpha-beta T cell that is located in the thymus and is CD8-positive and CD4-negative. tmpxe7fu0cj_hp_relaxed.owl CD8-positive, alpha-beta immature T cell|CD8-positive, alpha-beta immature T lymphocyte|SP CD8 cell|CD8-positive, alpha-beta immature T-lymphocyte|CD8-positive, alpha-beta immature T-cell cell owl:Class HP:0003044 biolink:NamedThing Shoulder flexion contracture Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:202265005|UMLS:C0409336 human_phenotype owl:Class HP:0001302 biolink:NamedThing Pachygyria Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. tmpxe7fu0cj_hp_relaxed.owl Fewer and broader ridges in brain|Cerebral pachygyria MSH:D054082|SNOMEDCT_US:23024003|UMLS:C0266483 human_phenotype owl:Class HP:0100650 biolink:NamedThing Vaginal neoplasm A tumor (abnormal growth of tissue) of the vagina. tmpxe7fu0cj_hp_relaxed.owl Vaginal tumor|Vaginal neoplasia|Vaginal tumour MSH:D014625|NCIT:C3262|UMLS:C0042258|SNOMEDCT_US:126921000|UMLS:C0750081 doelkens 2010-12-29T06:34:41Z human_phenotype owl:Class HP:0033020 biolink:NamedThing Female reproductive system neoplasm A neoplasm that affects the female reproductive system. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3053 peter owl:Class GO:0008610 biolink:NamedThing lipid biosynthetic process The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. tmpxe7fu0cj_hp_relaxed.owl lipid anabolism|lipid formation|lipid biosynthesis|lipid synthesis|lipogenesis biological_process owl:Class HP:0100718 biolink:NamedThing Uterine rupture tmpxe7fu0cj_hp_relaxed.owl UMLS:C0042143|SNOMEDCT_US:34430009|MSH:D014597 doelkens 2011-06-06T01:49:29Z human_phenotype owl:Class HP:0030936 biolink:NamedThing Abnormal layering of muscularis propria Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer. tmpxe7fu0cj_hp_relaxed.owl Muscularis propria malformation|Segmental additional circular muscle coat 2016-12-02 15:21:06+00:00 The intestinal muscularis propria is organized into discrete inner circular and outer longitudinal layers of muscle fibers that are oriented perpendicular to one another, except in the appendix, where the arrangement is more haphazard. The myenteric plexus of ganglia and nerves is sandwiched between the 2 muscle layers and is required for peristaltic activity. Maldevelopment or disruption of the neural or muscular elements can impair intestinal motility and cause intestinal pseudo-obstruction. This term refers to a malformation of the muscularis propria, with supernumerary and/or haphazard orientation of muscle fibers. robinp owl:Class HP:0030935 biolink:NamedThing Abnormality of intestinal smooth muscle morphology A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine. tmpxe7fu0cj_hp_relaxed.owl 2016-12-02 15:17:33+00:00 robinp owl:Class UBERON:0004742 biolink:NamedThing dentary The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians, extending to the whole lower jaw in mammals[VHOG,modified]. tmpxe7fu0cj_hp_relaxed.owl os dentale|dentaries|dentale|sur-angulaire|dentary bone VHOG:0001022|TAO:0000191|ZFA:0000191|EFO:0003508|http://palaeos.com/vertebrates/bones/dermal/images/Dentary1.gif|AAO:0000124 uberon owl:Class Ossified element of intramembranous origin that invests the lateral margin of Meckel's cartilage thereby forming the lateral side of the mandible in anurans and salamanders (Duellman & Trueb, 1994:293). In caecilians, the dentary is part of a compound bone termed the pseudodentary.[AAO]|Dermal bone that is usually the anteriormost bone of the lower jaw, and that articulates with the angular, or anguloarticular bone, posteriorly, and carries part of the mandibular sensory canal and pore openings of the mandibular sensory canal on its lateral surface. The dentary is a paired bone.[TAO]|The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians. In mammals the lower jaw consists entirely of the dentary bone. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Grande_L, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF, ZFA:0000191_and_Liem_KF, p.248][VHOG] relationship loss: overlaps dentary-anguloarticular joint (TAO:0001749)[TAO] Of all these bones [dentary, splenials, coronoids, angular, surangular and prearticular], only the dentary remains in the lower jaw of a mammal.[well established][VHOG] In lobe-finned fishes and the early fossil tetrapods, the bone homologous to the mandible of mammals is merely the largest of several bones in the lower jaw. In such animals, it is referred to as the dentary bone, and forms the body of the outer surface of the jaw. It is bordered below by a number of splenial bones, while the angle of the jaw is formed by a lower angular bone and a suprangular bone just above it. The inner surface of the jaw is lined by a prearticular bone, while the articular bone forms the articulation with the skull proper. Finally a set of three narrow coronoid bones lie above the prearticular bone. As the name implies, the majority of the teeth are attached to the dentary, but there are commonly also teeth on the coronoid bones, and sometimes on the prearticular as well. This complex primitive pattern has, however, been simplified to various degrees in the great majority of vertebrates, as bones have either fused or vanished entirely. In teleosts, only the dentary, articular, and angular bones remain, while in living amphibians, the dentary is accompanied only by the prearticular, and, in salamanders, one of the coronoids. The lower jaw of reptiles has only a single coronoid and splenial, but retains all the other primitive bones except the prearticular. UBERON:0015476 biolink:NamedThing nose skin A zone of skin that is part of a external nose. tmpxe7fu0cj_hp_relaxed.owl skin of nose|external nasal skin|skin of external nose EMAPA:37684|FMA:24763|MA:0003090 uberon owl:Class UBERON:1000021 biolink:NamedThing skin of face A zone of skin that is part of the face. tmpxe7fu0cj_hp_relaxed.owl face skin|facial skin UMLS:C0222084|FMA:24758|SCTID:361703006|EMAPA:36657|NCIT:C33561 eriks 2012-02-05T05:23:01Z uberon owl:Class GO:0003219 biolink:NamedThing cardiac right ventricle formation The developmental process pertaining to the initial formation of a right cardiac ventricle from unspecified parts. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T09:55:38Z biological_process owl:Class GO:0003211 biolink:NamedThing cardiac ventricle formation The developmental process pertaining to the initial formation of a cardiac ventricle from unspecified parts. A cardiac ventricle receives blood from a cardiac atrium and pumps it out of the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T09:46:27Z biological_process owl:Class HP:0012285 biolink:NamedThing Abnormal hypothalamus physiology An abnormal functionality of the hypothalamus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022968 The hypothalamus is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones. peter 2013-04-09T07:51:07Z owl:Class HP:0011083 biolink:NamedThing Conical maxillary incisor An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both. tmpxe7fu0cj_hp_relaxed.owl Conoid maxillary incisor|Pointed upper front tooth|Cone shaped maxillary incisor|Cone shaped upper front tooth|Upper front shark tooth|Peg shaped upper front tooth|Pointed maxillary incisor UMLS:C4023542 peter 2011-03-11T11:36:11Z human_phenotype owl:Class HP:0007360 biolink:NamedThing Aplasia/Hypoplasia of the cerebellum tmpxe7fu0cj_hp_relaxed.owl Absent/small cerebellum|Cerebellar hypoplasia/atrophy|Atrophy/Hypoplasia of the cerebellum|Absent/underdeveloped cerebellum|Atrophy/Degeneration affecting the cerebellum UMLS:C3279222 peter 2008-03-31T05:30:00Z HP:0006857|HP:0007368 owl:Class GO:1900115 biolink:NamedThing extracellular regulation of signal transduction Any regulation of signal transduction that takes place in the extracellular region. tmpxe7fu0cj_hp_relaxed.owl regulation of signaling pathway in extracellular region|regulation of signalling pathway in extracellular region bf 2012-02-22T10:21:48Z biological_process owl:Class UBERON:0001417 biolink:NamedThing skin of neck A zone of skin that is part of a neck [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl neck zone of skin|neck skin|neck (volume) zone of skin|zone of skin of neck (volume)|zone of skin of neck UMLS:C0205030|MA:0000590|FMA:23021|SCTID:361705004|NCIT:C52756|FMA:23022|EMAPA:37277 uberon owl:Class HP:0003787 biolink:NamedThing Type 1 and type 2 muscle fiber minicore regions Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers. tmpxe7fu0cj_hp_relaxed.owl Type 1 and type 2 muscle fibre minicore regions UMLS:C4025568 human_phenotype owl:Class HP:0003789 biolink:NamedThing Minicore myopathy Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850674|MSH:C564969 HP:0003804 human_phenotype owl:Class HP:0003797 biolink:NamedThing Limb-girdle muscle atrophy Muscular atrophy affecting the muscles of the limb girdle. tmpxe7fu0cj_hp_relaxed.owl Wasting of limb-girdle muscle|Limb-girdle myopathy UMLS:C1842552|UMLS:C1404521 human_phenotype owl:Class HP:0001757 biolink:NamedThing High-frequency sensorineural hearing impairment A form of sensorineural hearing impairment that affects primarily the higher frequencies. tmpxe7fu0cj_hp_relaxed.owl High frequency sensorineural hearing impairment|High-tone sensorineural hearing impairment|High-tone sensorineural deafness UMLS:C4021775 human_phenotype owl:Class HP:0100363 biolink:NamedThing Aplasia of the phalanges of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Absent bones of the 4th toe UMLS:C4022124 human_phenotype owl:Class HP:0010745 biolink:NamedThing Aplasia of the phalanges of the toes Absence of a digit or of one or more phalanges of a toe. tmpxe7fu0cj_hp_relaxed.owl Aphalangia of the toes|Absent bones of the toes UMLS:C4021231 doelkens 2010-04-22T04:33:06Z human_phenotype owl:Class UBERON:5103633 biolink:NamedThing pedal digit 3 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 3 plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl pedal digit 3|pedal digit 3 skeleton|pedal digit III digitopodial skeleton this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class HP:0009940 biolink:NamedThing Asymmetry of the mandible Lack of symmetry between the left and right mandible. tmpxe7fu0cj_hp_relaxed.owl Canted lower jaw|Uneven mandible|Deviation of the lower jaw|Tilted mandible|Deviation of mandible|Canted mandible|Deviation of lower jaw|Deviation of the mandible|Lower jaw shifted to one side|Crooked lower jaw|Uneven lower jaw|Asymmetry of lower jaw|Tilted lower jaw UMLS:C0399518|UMLS:C4082201|SNOMEDCT_US:235082006 peter 2009-05-10T11:28:02Z human_phenotype owl:Class HP:0011359 biolink:NamedThing Dry hair Hair that lacks the lustre (shine or gleam) of normal hair. tmpxe7fu0cj_hp_relaxed.owl Dry hair SNOMEDCT_US:79395009|UMLS:C0277960 peter 2012-03-01T04:24:09Z HP:0200077|HP:0200080|HP:0200079 human_phenotype owl:Class HP:0010719 biolink:NamedThing Abnormality of hair texture An abnormality of the texture of the hair. tmpxe7fu0cj_hp_relaxed.owl Abnormality of hair curl pattern|Abnormality of hair consistency|Abnormality of hair volume|Abnormality of hair texture UMLS:C4073290|UMLS:C4072880|UMLS:C4072881|UMLS:C4023722 sdoelken 2010-04-20T09:41:53Z HP:0002295|HP:0003776 owl:Class CHEBI:76760 biolink:NamedThing EC 3.1.* (ester hydrolase) inhibitor A hydrolase inhibitor that interferes with the action of any ester hydrolase (EC 3.1.*.*). tmpxe7fu0cj_hp_relaxed.owl ester hydrolase inhibitor|ester hydrolase inhibitors|ester hydrolase (EC 3.1.*) inhibitor|ester hydrolase (EC 3.1.*) inhibitors|EC 3.1.* (ester hydrolase) inhibitors|EC 3.1.* inhibitor|EC 3.1.* inhibitors chebi_ontology owl:Class CHEBI:76759 biolink:NamedThing EC 3.* (hydrolase) inhibitor Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*). tmpxe7fu0cj_hp_relaxed.owl hydrolase (EC 3.*) inhibitor|hydrolase inhibitor|hydrolase inhibitors|EC 3.* inhibitors|EC 3.* inhibitor|EC 3.*.*.* inhibitor|EC 3.*.*.* inhibitors|hydrolase (EC 3.*) inhibitors|EC 3.* (hydrolase) inhibitors Wikipedia:Hydrolase chebi_ontology owl:Class HP:0025535 biolink:NamedThing Shawl sign Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back. tmpxe7fu0cj_hp_relaxed.owl 2017-05-18 01:20:11+00:00 This feature may be observed with dermatomyositis and polymyositis. HPO:probinson owl:Class GO:0060425 biolink:NamedThing lung morphogenesis The process in which the anatomical structures of the lung are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001229 biolink:NamedThing renal corpuscle The structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron. tmpxe7fu0cj_hp_relaxed.owl Malpighian corpuscle|kidney corpuscle|corpusculum renale|corpusculum renis|Malphigian corpuscle|cortical renal corpuscle UMLS:C0227635|NCIT:C33456|TAO:0005281|FMA:15625|MA:0000376|EMAPA:35726|VHOG:0001262|CALOHA:TS-1317|EV:0100385|BTO:0000333|ZFA:0005281|EMAPA:28236 Together, the Bowmans capsule and the glomerulus comprise the definitive renal corpuscle. http://www.gudmap.org/About/Tutorial/DevMUS.html#DMK_Nephron Renal:corpuscle.svg uberon owl:Class A tuft of capillaries found in a Bowman's capsule in which waste products are filtered from the blood and urine formation is initiated. Paired highly vascularized structures of the pronephros, responsible for blood filtration.[XAO]|The part of the nephron that filters blood.[TAO]|A mass of arterial capillaries enveloped in a capsule and attached to a tubule in the kidney[BTO] HP:0030066 biolink:NamedThing Ependymoblastoma A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system. tmpxe7fu0cj_hp_relaxed.owl MSH:D018242|SNOMEDCT_US:21589007|UMLS:C0700367|SNOMEDCT_US:715901002 Ependymoblastoma is a rare tumor that occurs in infants and young children in the first two years of life. Both sexes are affected equally. Patients present with signs and symptoms of raised intracranial pressure and hydrocephalus. Focal neurological signs may be present in older children. On MRI, ependymoblastomas are large heterogeneously enhancing lesion with associated brain edema and mass effect. Ependymoblastomas are well-circumscribed lesions, with a distinct margin between tumor and normal brain, though focal microscopic extension and leptomeningeal invasion are common. Histologically, an ependymoblastoma is a primitive neuroectodermal tumor with tumor cell arranged in multilayered rosettes consisting of an outer rim of tumor cells merging with the surrounding undifferentiated neuroectodermal cells. The tumor cells are immunopositive for S100, vimentin, cytokeratin and GFAP, and show high mitotic activity. owl:Class HP:0030070 biolink:NamedThing Central primitive neuroectodermal tumor A primitive neuroectodermal neoplasm that occurs in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl Central primitive neuroectodermal tumour SNOMEDCT_US:39781001|UMLS:C3887678 owl:Class UBERON:0003513 biolink:NamedThing trunk blood vessel A blood vessel that is part of a trunk [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl torso blood vessel|blood vessel of torso|blood vessel of trunk MA:0000511|EMAPA:37237 uberon owl:Class GO:0006952 biolink:NamedThing defense response Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. tmpxe7fu0cj_hp_relaxed.owl physiological defense response|defense/immunity protein activity|antimicrobial peptide activity|defence response GO:0002217|GO:0042829 biological_process owl:Class GO:0006950 biolink:NamedThing response to stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpxe7fu0cj_hp_relaxed.owl response to abiotic stress|response to biotic stress Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class GO:0010893 biolink:NamedThing positive regulation of steroid biosynthetic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0007866 biolink:NamedThing Retinal infarction tmpxe7fu0cj_hp_relaxed.owl UMLS:C0281967 human_phenotype owl:Class HP:0012333 biolink:NamedThing Abnormal sudomotor regulation An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration. tmpxe7fu0cj_hp_relaxed.owl Sudomotor sympathetic dysfunction UMLS:C4021092 Normally, the cholinergic innervation via the sympathetic nervous system activates muscarinic acetylcholine receptors in sweat glands, thereby leading to perspiration. This terms refers to an abnormally increased or decreased activity of this system. peter 2013-09-13T08:04:38Z human_phenotype owl:Class HP:0012332 biolink:NamedThing Abnormal autonomic nervous system physiology A functional abnormality of the autonomic nervous system. tmpxe7fu0cj_hp_relaxed.owl Autonomic dysregulation|Autonomic dysfunction|Dysautonomia UMLS:C4022952 peter 2013-09-13T07:53:55Z HP:0002387|HP:0002459|HP:0002271|HP:0007310 human_phenotype owl:Class UBERON:0003701 biolink:NamedThing calcaneal tendon The Achilles tendon is a tendon of the posterior leg. It serves to attach the plantaris, gastrocnemius (calf) and soleus muscles to the calcaneus (heel) bone. tmpxe7fu0cj_hp_relaxed.owl Achilles' tendon|Achilles tendon|tendo calcaneus|Achille's tendon|tendo Achillis|calcaneal tendon MA:0002993|MESH:D000125|GAID:277|NCIT:C32043|EMAPA:35853|OpenCyc:Mx4rvVjNX5wpEbGdrcN5Y29ycA|UMLS:C0001074|FMA:51061 http://upload.wikimedia.org/wikipedia/commons/3/3c/Achilles-tendon.jpg uberon owl:Class reduced in non-human primates bipedalism, running in FMA this is a ligament, and part of the muscle HP:0030491 biolink:NamedThing Choriocapillaris atrophy Atrophy of the capillary lamina of choroid. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3275758 owl:Class HP:0000533 biolink:NamedThing Chorioretinal atrophy Atrophy of the choroid and retinal layers of the fundus. tmpxe7fu0cj_hp_relaxed.owl Chorioretinal thinning UMLS:C4048273|SNOMEDCT_US:95686007 Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines. Choroidal sclerosis is a term used to describe a group of genetically heterogeneous retinal dystrophies that share a common funduscopic phenotype of scalloped, well-circumscribed, and confluent chorioretinal atrophic lesions that extend beyond the macula. The term choroidal sclerosis was initially coined because of the sclerotic appearance of choroidal vessels which frequently appear white or light-yellow. However, histologic studies have demonstrated the term to be a misnomer as the principle abnormality is the loss of choriocapillaris, retinal pigment epithelium (RPE), and the outer retina in the absence of abnormal sclerotic changes in the choroidal vasculature. Therefore, we are making choroidal sclerosis a synonym of chorioretinal atrophy. HP:0007931|HP:0007884|HP:0001150|HP:0007918 human_phenotype owl:Class HP:0032316 biolink:NamedThing Family history Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 11:40:50+00:00 This subontology is intended to help record summary information about family members if only a limited amount of information is available or required. peter owl:Class HP:0032887 biolink:NamedThing Generalized atonic seizure Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature. tmpxe7fu0cj_hp_relaxed.owl Generalised atonic seizure Atonic means without tone. When leg tone is lost during a generalized atonic seizure, the patient falls on the buttocks or sometimes forward onto the knees and face. Recovery is usually within seconds. peter owl:Class HP:0010819 biolink:NamedThing Atonic seizure Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. tmpxe7fu0cj_hp_relaxed.owl Drop seizures|Hypotonic seizures|Astatic seizure|Hypotonic seizure|Drop attacks|Astatic seizures|Atonic seizures|Sudden loss of muscle tone UMLS:C1836509|SNOMEDCT_US:189198006|SNOMEDCT_US:42365007|UMLS:C0270846 This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding atonic seizures when the onset is not known. peter 2010-07-10T03:13:06Z HP:0002124 human_phenotype owl:Class HP:0040231 biolink:NamedThing Abnormal onset of bleeding tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280713 owl:Class HP:0200154 biolink:NamedThing Agenesis of mandibular lateral incisor tmpxe7fu0cj_hp_relaxed.owl Absence of lower lateral incisor|Absence of mandibular lateral incisor|Missing mandibular lateral incisor|Missing lower lateral incisor|Failure of development of mandibular lateral incisor UMLS:C4021880|UMLS:C4280283 owl:Class HP:0200161 biolink:NamedThing Agenesis of mandibular incisor tmpxe7fu0cj_hp_relaxed.owl Missing lower front tooth|Absence of lower incisor|Absence of lower front tooth|Agenesis of lower incisor|Failure of development of mandibular incisor|Absence of mandibular incisor|Missing lower incisor UMLS:C4280277|UMLS:C4021876|UMLS:C3150012 owl:Class UBERON:0005604 biolink:NamedThing extrahepatic part of hepatic duct tmpxe7fu0cj_hp_relaxed.owl hepatic duct extrahepatic part|extrahepatic part of the hepatic duct VHOG:0000215|EMAPA:16844|MA:0001636 uberon owl:Class UBERON:0002394 biolink:NamedThing bile duct Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine. tmpxe7fu0cj_hp_relaxed.owl hepatic duct|bile tube|gall duct|biliary duct UMLS:C0005400|AAO:0011019|CALOHA:TS-0075|EMAPA:35171|VHOG:0000212|MA:0000354|OpenCyc:Mx4rvdCds5wpEbGdrcN5Y29ycA|XAO:0000134|MESH:D001652|EHDAA2:0000741|FMA:9706|GAID:280|BTO:0000122|ZFA:0001100|NCIT:C12376|EV:0100091|TAO:0001100 http://upload.wikimedia.org/wikipedia/commons/5/5d/Digestive_system_showing_bile_duct.png uberon owl:Class A duct that carries bile from the liver to the intestine.|Any of the excretory ducts in the liver that convey bile between the liver and the intestine. [TFD][VHOG] (...) the amphibian liver has characteristics in common with both fish and terrestrial vertebrates. (...) The histological structure of the liver is similar to that in other vertebrates, with hepatocytes arranged in clusters and cords separated by a meshwork of sinusoids and the presence of the traditional triad of portal venule, hepatic arteriole, and bile duct.[well established][VHOG] we place the ZFA class here as this fits its textual definition and child nodes. We may recommend a label change for ZFA UBERON:0001568 biolink:NamedThing muscle of larynx The muscles associated with the larynx. tmpxe7fu0cj_hp_relaxed.owl musculi laryngeales|muscle organ of larynx|laryngeal muscle|larynx muscle organ|larynx muscle SCTID:181744001|BTO:0001626|NCIT:C32934|MESH:D007821|GAID:144|UMLS:C0023054|Wikipedia:Muscles_of_larynx|MA:0001768|FMA:46562|EMAPA:35473 uberon owl:Class UBERON:0003831 biolink:NamedThing respiratory system muscle Any muscle organ that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscle organ of apparatus respiratorius|apparatus respiratorius muscle organ|respiratory system muscle organ|muscle organ of respiratory system MA:0001828|EMAPA:35733 uberon owl:Class UBERON:0025533 biolink:NamedThing proprioceptive system The sensory system for the sense of proprioception. tmpxe7fu0cj_hp_relaxed.owl proprioceptive system NLXANAT:090814 uberon owl:Class UBERON:0002018 biolink:NamedThing synovial membrane of synovial joint Soft tissue that lines the non-cartilaginous surfaces within joints with cavities (synovial joints). tmpxe7fu0cj_hp_relaxed.owl synovium|synovial membrane of articular capsule of synovial joint|synovial layer|synovial layer of articular capsule of synovial joint|membrana synovialis capsulae articularis|stratum synoviale|membrana synovialis (capsula articularis)|stratum synoviale (capsula articularis)|synovial membrane|synovium of articular capsule of synovial joint EHDAA2_RETIRED:0003181|VHOG:0001282|EFO:0001393|AEO:0000181|galen:SynovialMembrane|BTO:0001823|NCIT:C12473|FMA:9865|Wikipedia:Synovial_membrane|GAID:264|UMLS:C0039099|EMAPA:37476|SCTID:361828005|EV:0100143|MA:0000114|MESH:D013583 http://upload.wikimedia.org/wikipedia/commons/5/5d/Synovium.png|http://upload.wikimedia.org/wikipedia/commons/1/19/Joint.png uberon owl:Class Phylogenetically, synovium is one of the newer attributes of the vertebrate locomotor apparatus. The first synovial joints developed in the piscine jaw of ancestors of modern lungfish by an evolutionary process that modified preexisting fibrous and cartilaginous joints, which were the predominant articulation of the early sea- and land-dwelling vertebrates.[well established][VHOG] PATO:0001822 biolink:NamedThing wetness A quality inhering in a bearer by virtue of whether the bearer's being covered by a liquid. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0001018 biolink:NamedThing physical quality A quality of a physical entity that exists through action of continuants at the physical level of organisation in relation to other entities. tmpxe7fu0cj_hp_relaxed.owl relational physical quality Wikipedia:Physical_property PATO:0002079 quality owl:Class CHEBI:33675 biolink:NamedThing p-block molecular entity A main group molecular entity that contains one or more atoms of a p-block element. tmpxe7fu0cj_hp_relaxed.owl p-block molecular entitiy|p-block compounds|p-block molecular entities chebi_ontology owl:Class HP:0030569 biolink:NamedThing Pinhole visual acuity 0.1 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073042 owl:Class HP:0003571 biolink:NamedThing Propionic acidemia Increased concentration of proprionic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0268579|MSH:D056693|SNOMEDCT_US:124718009|SNOMEDCT_US:69080001 owl:Class HP:0032368 biolink:NamedThing Acidemia An abnormally low blood pH (usually defined as less than 7.35). tmpxe7fu0cj_hp_relaxed.owl 2019-02-23 18:37:21+00:00 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. peter owl:Class GO:0045026 biolink:NamedThing plasma membrane fusion The joining of the lipid bilayer membrane that surround a cell with that of another cell, producing a single cell. tmpxe7fu0cj_hp_relaxed.owl cell-cell fusion|cell fusion GO:0006947 biological_process owl:Class GO:0007009 biolink:NamedThing plasma membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl plasma membrane organization and biogenesis|plasma membrane organisation biological_process owl:Class HP:0009251 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 4th finger An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the outermost bone of the ring finger UMLS:C4024496 doelkens 2009-01-07T12:07:34Z human_phenotype owl:Class HP:0410383 biolink:NamedThing Abnormal proportion of effector memory CD8-positive, alpha-beta T cells An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0032296 biolink:NamedThing Increased circulating IgG subclass An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 22:46:56+00:00 The four subclasses, IgG1, IgG2, IgG3, and IgG4, which are highly conserved, differ in their constant region, particularly in their hinges and upper CH2 domains. These regions are involved in binding to both IgG-Fc receptors (Fc-gammaR) and C1q. As a result, the different subclasses have different effector functions, peter owl:Class HP:0003237 biolink:NamedThing Increased circulating IgG level An abnormally increased level of immunoglobulin G in blood. tmpxe7fu0cj_hp_relaxed.owl Increased IgG level|Increased total IgG in blood|Increased levels of IgG UMLS:C1858977 human_phenotype owl:Class HP:0012014 biolink:NamedThing EEG with central focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the central region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023077 hecht 2012-07-20T12:01:29Z human_phenotype owl:Class HP:0008472 biolink:NamedThing Prominent protruding coccyx tmpxe7fu0cj_hp_relaxed.owl Large tailbone|Prominent protruding tailbone UMLS:C1850044|UMLS:C4280412 human_phenotype owl:Class HP:0040017 biolink:NamedThing Protruding coccyx tmpxe7fu0cj_hp_relaxed.owl Protruding tailbone UMLS:C4022489 HPO:skoehler owl:Class HP:0030912 biolink:NamedThing Duplicated clitoris Supernumerary clitoris. tmpxe7fu0cj_hp_relaxed.owl The word bifid indicates the presence of a split clitoris, as opposed to a supernumerary clitoris, which could be described as duplicated clitoris. owl:Class HP:0000056 biolink:NamedThing Abnormality of the clitoris An abnormality of the clitoris. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the clit UMLS:C4025893 human_phenotype owl:Class UBERON:0006262 biolink:NamedThing malleus pre-cartilage condensation A malleus endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001055|EMAPA:17826|EHDAA:9026|VHOG:0000958 uberon owl:Class UBERON:0035132 biolink:NamedThing auditory ossicle pre-cartilage element tmpxe7fu0cj_hp_relaxed.owl ossicle pre-cartilage condensation EMAPA:35982 uberon owl:Class HP:0025258 biolink:NamedThing Stiff neck A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side. tmpxe7fu0cj_hp_relaxed.owl Neck stiffness|Stiff neck 2016-12-18 01:06:15+00:00 HPO:probinson owl:Class GO:0045819 biolink:NamedThing positive regulation of glycogen catabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:2000172 biolink:NamedThing regulation of branching morphogenesis of a nerve Any process that modulates the frequency, rate or extent of branching morphogenesis of a nerve. tmpxe7fu0cj_hp_relaxed.owl rl 2010-10-07T12:07:54Z biological_process owl:Class HP:0008473 biolink:NamedThing Narrow anterio-posterior vertebral body diameter An abnormal reduction of the anterioposterior diameter of the vertebral body. tmpxe7fu0cj_hp_relaxed.owl Reduced anterior-posterior diameter of vertebral bodies|Reduced sagittal diameter of vertebrae UMLS:C4021540 HP:0005732 human_phenotype owl:Class HP:0008479 biolink:NamedThing Hypoplastic vertebral bodies tmpxe7fu0cj_hp_relaxed.owl Underdeveloped back bones|Small vertebral bodies|Small vertebrae UMLS:C1863353 HP:0002773 human_phenotype owl:Class GO:0051560 biolink:NamedThing mitochondrial calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings. tmpxe7fu0cj_hp_relaxed.owl calcium ion homeostasis in mitochondrion|calcium ion homeostasis in mitochondria|mitochondrial calcium ion concentration regulation|regulation of calcium ion concentration in mitochondrion|regulation of calcium ion concentration in mitochondria|regulation of mitochondrial calcium ion concentration biological_process owl:Class UBERON:0006254 biolink:NamedThing ischial cartilage element An ischial endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl ischial cartilage condensation EHDAA:9570|EMAPA:26930|EHDAA2:0000890 uberon owl:Class HP:0009729 biolink:NamedThing Cardiac rhabdomyoma A benign tumor of cardiac striated muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1332852 peter 2009-01-31T10:53:11Z owl:Class HP:0100544 biolink:NamedThing Neoplasm of the heart A tumor (abnormal growth of tissue) of the heart. tmpxe7fu0cj_hp_relaxed.owl Heart tumor|Heart tumour|Cardiac neoplasm|Cardiac neoplasia SNOMEDCT_US:387842002|UMLS:C0018809|NCIT:C3262|MSH:D006338 doelkens 2010-12-20T07:00:31Z owl:Class UBERON:0014376 biolink:NamedThing thenar muscle Any of the muscles of the thenar eminence, a raised fleshy area on the palm of the hand near the base of the thumb. tmpxe7fu0cj_hp_relaxed.owl thenar compartment|thenar muscles|thenar muscle|thenar eminence FMA:64916 uberon owl:Class thenar UBERON:0014375 biolink:NamedThing intrinsic muscle of manus Any of the intrinsic muscles of the manus (hand). tmpxe7fu0cj_hp_relaxed.owl intrinsic muscle of hand|intrinsic hand muscle FMA:42380 uberon owl:Class HP:0100055 biolink:NamedThing Absent epiphyses of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the 3rd toe UMLS:C4022366 doelkens 2010-06-24T09:58:55Z human_phenotype owl:Class HP:0100245 biolink:NamedThing Desmoid tumors Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine. tmpxe7fu0cj_hp_relaxed.owl Desmoid tumours SNOMEDCT_US:47284001|SNOMEDCT_US:399994005|UMLS:C0079218|MSH:D018222|SNOMEDCT_US:400055004|NCIT:C3042 Most cases are sporadic, but some are associated with familial adenomatous polyposis (FAP). Approximately 10% of individuals with Gardner's syndrome, a type of FAP with extracolonic features, have desmoid tumors. Risk factors for desmoid disease amongst FAP patients include female gender, a 3' APC mutation, a positive family history and a history of previous abdominal surgery. doelkens 2010-07-08T10:57:06Z human_phenotype owl:Class UBERON:0015860 biolink:NamedThing visceral abdominal lymph node tmpxe7fu0cj_hp_relaxed.owl FMA:66178 uberon owl:Class UBERON:0011975 biolink:NamedThing epiphysis of middle phalanx of pes An epiphysis that is part of a middle phalanx of pes. tmpxe7fu0cj_hp_relaxed.owl epiphysis of middle phalanx of toe uberon owl:Class UBERON:0004446 biolink:NamedThing epiphysis of phalanx An epiphysis that is part of a phalanx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class CHEBI:36963 biolink:NamedThing organooxygen compound An organochalcogen compound containing at least one carbon-oxygen bond. tmpxe7fu0cj_hp_relaxed.owl organooxygen compound|organooxygen compounds PMID:17586126 chebi_ontology owl:Class CHEBI:36962 biolink:NamedThing organochalcogen compound An organochalcogen compound is a compound containing at least one carbon-chalcogen bond. tmpxe7fu0cj_hp_relaxed.owl organochalcogen compounds|organochalcogen compound chebi_ontology owl:Class HP:0011666 biolink:NamedThing Absent right superior vena cava Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0344656|SNOMEDCT_US:253308005 The superior vena cava is formed by the left and right brachiocephalic (innominate) veins, which receive blood from the arms, head and neck. peter 2012-04-09T11:43:46Z owl:Class HP:0005301 biolink:NamedThing Persistent left superior vena cava A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. tmpxe7fu0cj_hp_relaxed.owl PLSVC UMLS:C0265931|SNOMEDCT_US:77978002 owl:Class HP:0000868 biolink:NamedThing Decreased fertility in females tmpxe7fu0cj_hp_relaxed.owl Decreased fertility in females|Reduced fertility in females UMLS:C0151639 human_phenotype owl:Class HP:0000144 biolink:NamedThing Decreased fertility tmpxe7fu0cj_hp_relaxed.owl Decreased fertility|Abnormal fertility SNOMEDCT_US:17276009|UMLS:C0520927 human_phenotype owl:Class GO:0099641 biolink:NamedThing anterograde axonal protein transport The directed movement of proteins along microtubules from the cell body toward the cell periphery in nerve cell axons. tmpxe7fu0cj_hp_relaxed.owl anterograde axon cargo transport biological_process owl:Class GO:0099640 biolink:NamedThing axo-dendritic protein transport The directed movement of proteins along microtubules in neuron projections. tmpxe7fu0cj_hp_relaxed.owl axonal protein transport biological_process owl:Class UBERON:0012290 biolink:NamedThing fused carpal bones 2 and 3 A carpal bone that is formed from the fusion of the 2nd and 3rd distal carpal bones. tmpxe7fu0cj_hp_relaxed.owl fused carpals 2 and 3|carpals 2+3 uberon owl:Class UBERON:0001481 biolink:NamedThing distal carpal bone A distal carpal endochondral element that is composed primarily of a bone tissue. tmpxe7fu0cj_hp_relaxed.owl distal carpal AAO:0000847|EMAPA:36168|MA:0002558|FMA:33303 uberon owl:Class Series of elements that articulate with the metacarpals.[AAO] Primitively, each of the distal bones appears to have articulated with a single metacarpal GO:0006687 biolink:NamedThing glycosphingolipid metabolic process The chemical reactions and pathways involving glycosphingolipids, any compound with residues of sphingoid and at least one monosaccharide. tmpxe7fu0cj_hp_relaxed.owl glycosphingolipid metabolism biological_process owl:Class GO:0006665 biolink:NamedThing sphingolipid metabolic process The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). tmpxe7fu0cj_hp_relaxed.owl sphingolipid metabolism biological_process owl:Class UBERON:0035128 biolink:NamedThing manus cartilage element tmpxe7fu0cj_hp_relaxed.owl hand cartilage condensation EMAPA:32631 uberon owl:Class UBERON:0011132 biolink:NamedThing intercarpal joint A skeletal joint that connects two carpal bones. tmpxe7fu0cj_hp_relaxed.owl midcarpal articulation|carpal joint|intercarpal|intercarpal articulation NCIT:C32264|FMA:35292|UMLS:C1262468 http://upload.wikimedia.org/wikipedia/commons/3/37/Gray336.png uberon owl:Class GO:0045798 biolink:NamedThing negative regulation of chromatin assembly or disassembly Any process that stops, prevents, or reduces the frequency, rate or extent of chromatin assembly or disassembly. tmpxe7fu0cj_hp_relaxed.owl negative regulation of chromatin assembly/disassembly|downregulation of chromatin assembly or disassembly|down-regulation of chromatin assembly or disassembly|down regulation of chromatin assembly or disassembly|inhibition of chromatin assembly or disassembly biological_process owl:Class GO:0003231 biolink:NamedThing cardiac ventricle development The process whose specific outcome is the progression of a cardiac ventricle over time, from its formation to the mature structure. A cardiac ventricle receives blood from a cardiac atrium and pumps it out of the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T11:03:16Z biological_process owl:Class GO:1905207 biolink:NamedThing regulation of cardiocyte differentiation Any process that modulates the frequency, rate or extent of cardiocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of cardiac cell differentiation|regulation of heart cell differentiation bc 2016-06-02T07:20:01Z biological_process owl:Class UBERON:0004060 biolink:NamedThing neural tube ventricular layer The layer of undifferentiated, proliferating cells that line the neural tube lumen that is the immediate transformation of the germinal neuroepithelium. tmpxe7fu0cj_hp_relaxed.owl neural tube ventricular zone|neural tube ependymal layer|neural tube ependymal zone|ependymal layer|neural tube ventricular germinal zone EMAPA:35362|EMAPA_RETIRED:16783|EMAPA:17152|MA:0003193 consider merging with 'ventricular zone'; note that the MA class probably does not belong here, as this is an embryonic structure uberon owl:Class The layer of undifferentiated, proliferating cells that line the neural tube lumen HP:0011141 biolink:NamedThing Age-related cataract A type of cataract (opacification of the lens) that forms during the course of aging. tmpxe7fu0cj_hp_relaxed.owl Clouding of the lens of the eye with age UMLS:C0036646|SNOMEDCT_US:39450006 The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibres throughout life, so with increasing age the lens becomes more compact and thicker. peter 2011-06-27T09:41:38Z human_phenotype owl:Class HP:0031131 biolink:NamedThing Abnormal platelet phosphatidylserine exposure An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 12:34:11+00:00 peter owl:Class HP:0032253 biolink:NamedThing Eosinophilic granuloma A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 16:50:48+00:00 Eosinophilic granuloma (EG) is a benign disorder that affects children and young adults, particularly males. Solitary EG accounts for the majority of Langerhans cell histiocytosis cases, usually involving bone and less commonly the lymph nodes, lung or skin. peter owl:Class HP:0032252 biolink:NamedThing Granuloma A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 16:44:42+00:00 Granulomas vary considerably in their degree of complexity, physical size and organization. Not surprisingly, their classification has attracted much attention, and a numbers of schemes have been described. The cornerstone of the granulomatous response, however, is the predominant involvement of mononuclear phagocytes. As granulomas develop, tissue-resident, as well as inflammatory mononuclear phagocytes become intimately acquainted, and these cells may develop highly differentiated epithelioid cell characteristics. In many cases, elegant multinucleate populations can be seen, distinct from the syncytia formed after viral infection as evident by their extended life-span. Accumulating lymphocytes, mainly T cells, contribute to the developing microarchitecture of the granuloma, often with characteristic patterns of subset organization relative to the core of mononuclear phagocytes and to each other. B lymphocytes, plasma cells, NK cells and neutrophils may all be present, though a relative paucity of neutrophils delineates these sites of inflammation from those associated with necrosis. At its extreme, the granuloma may serve as the focus for irreversible fibrotic reactions, but, even in less dramatic cases, a substantive degree of local tissue remodelling occurs. peter owl:Class UBERON:5103635 biolink:NamedThing pedal digit 5 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 5 plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl pedal digit 5|pedal digit 5 skeleton|pedal digit V digitopodial skeleton this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class UBERON:0005058 biolink:NamedThing hemolymphoid system gland A gland that is part of a hemolymphoid system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hemopoietic or lymphoid organ|hemopoietic or lymphoid gland|haemolymphoid system gland MA:0002962|EMAPA:18766 uberon owl:Class GO:0099157 biolink:NamedThing trans-synaptic signalling via exosome Transynaptic signaling in which the ligand is carried across the synapse by an exosome. tmpxe7fu0cj_hp_relaxed.owl exosome mediated transynaptic signalling dos 2017-07-05T16:49:44Z biological_process owl:Class GO:0099537 biolink:NamedThing trans-synaptic signaling Cell-cell signaling in either direction across the synaptic cleft. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0000245 biolink:NamedThing Abnormal paranasal sinus morphology Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the sinuses|Abnormality of the sinuses of the head|Abnormality of the paranasal sinuses UMLS:C4025873 owl:Class CHEBI:20664 biolink:NamedThing 5beta-cholane tmpxe7fu0cj_hp_relaxed.owl 5beta-cholane 0 C24H42 InChI=1S/C24H42/c1-5-8-17(2)20-12-13-21-19-11-10-18-9-6-7-15-23(18,3)22(19)14-16-24(20,21)4/h17-22H,5-16H2,1-4H3/t17-,18+,19+,20-,21+,22+,23+,24-/m1/s1 QSHQKIURKJITMZ-OBUPQJQESA-N 330.59028 330.32865 [H][C@@]12CCCC[C@]1(C)[C@@]1([H])CC[C@]3(C)[C@]([H])(CC[C@@]3([H])[C@]1([H])CC2)[C@H](C)CCC Beilstein:2048472 chebi_ontology owl:Class CHEBI:35519 biolink:NamedThing cholane tmpxe7fu0cj_hp_relaxed.owl cholane 0 C24H42 InChI=1S/C24H42/c1-5-8-17(2)20-12-13-21-19-11-10-18-9-6-7-15-23(18,3)22(19)14-16-24(20,21)4/h17-22H,5-16H2,1-4H3/t17-,18?,19+,20-,21+,22+,23+,24-/m1/s1 QSHQKIURKJITMZ-BRPMRXRMSA-N 330.59028 330.32865 [H][C@@]1(CC[C@@]2([H])[C@]3([H])CCC4CCCC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)CCC chebi_ontology owl:Class HP:0002936 biolink:NamedThing Distal sensory impairment An abnormal reduction in sensation in the distal portions of the extremities. tmpxe7fu0cj_hp_relaxed.owl Distal sensory loss, upper and lower limbs|Decreased distal sensation|Decreased sensation in extremities|Distal sensation loss|Distal sensory loss|Distal sensory impairment in lower limbs|Loss of distal sensation|Distal sensory impairment of the lower extremities UMLS:C1847584 HP:0006843|HP:0007138|HP:0007296|HP:0006922|HP:0006971|HP:0006993|HP:0006845|HP:0003476|HP:0007292 owl:Class HP:0002597 biolink:NamedThing Abnormality of the vasculature An abnormality of the vasculature. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the vasculature|Vascular abnormalities|Abnormality of blood vessels UMLS:C0241657 human_phenotype owl:Class GO:2000376 biolink:NamedThing positive regulation of oxygen metabolic process Any process that activates or increases the frequency, rate or extent of oxygen metabolic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of diatomic oxygen metabolic process|positive regulation of oxygen metabolism mah 2011-02-11T02:03:52Z biological_process owl:Class UBERON:0002124 biolink:NamedThing medulla of thymus Medullary portion of thymus. The reticulum is coarser than in the cortex, the lymphoid cells are relatively fewer in number, and there are found peculiar nest-like bodies, the concentric corpuscles of Hassall. These concentric corpuscles are composed of a central mass, consisting of one or more granular cells, and of a capsule formed of epithelioid cells. They are the remains of the epithelial tubes, which grow out from the third branchial pouches of the embryo to form the thymus. Each follicle is surrounded by a vascular plexus, from which vessels pass into the interior, and radiate from the periphery toward the center, forming a second zone just within the margin of the medullary portion. In the center of the medullary portion there are very few vessels, and they are of minute size. tmpxe7fu0cj_hp_relaxed.owl medulla of thymus gland|thymus medulla|thymus gland medulla EMAPA:19305|NCIT:C33775|BTO:0004560|UMLS:C0229949|MA:0000771|EFO:0001969|FMA:72206 uberon owl:Class UBERON:0000958 biolink:NamedThing medulla of organ Middle part of an organ, surrounded by the cortex. tmpxe7fu0cj_hp_relaxed.owl medulla galen:Medulla|FMA:61108 this class is used in a very general sense uberon owl:Class medullary HP:0010351 biolink:NamedThing Osteolytic defects of the phalanges of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023888 doelkens 2009-07-16T11:45:34Z human_phenotype owl:Class GO:0150119 biolink:NamedThing negative regulation of protein localization to cell-cell junction Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cell-cell junction. tmpxe7fu0cj_hp_relaxed.owl negative regulation of protein localisation to cell-cell junction bc 2019-11-21T13:53:34Z biological_process owl:Class GO:0150106 biolink:NamedThing regulation of protein localization to cell-cell junction Any process that modulates the frequency, rate or extent of protein localization to cell-cell junction. tmpxe7fu0cj_hp_relaxed.owl bc 2019-06-11T11:17:15Z biological_process owl:Class UBERON:0013411 biolink:NamedThing cranial cavity Anatomical cavity that is the lumen of the skull and contains the brain. tmpxe7fu0cj_hp_relaxed.owl intracranial space|intracranial cavity|cavitas cranii Wikipedia:Cranial_cavity|SCTID:264452006|NCIT:C77638|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2806|MA:0003061|UMLS:C0230041|FMA:9644|EMAPA:37497 http://upload.wikimedia.org/wikipedia/commons/e/ee/Scheme_body_cavities-en.svg uberon owl:Class UBERON:0002553 biolink:NamedThing anatomical cavity Anatomical space which contains portions of one or more body substances and is bounded by the internal surface of one maximally connected anatomical structure. Examples: cranial cavity, pharyngeal recess space, nasal cavity, tooth socket, cavity of serous sac, lumen of stomach, lumen of artery, fornix of vagina. tmpxe7fu0cj_hp_relaxed.owl cavity EMAPA:37442|BIRNLEX:1011|galen:Cavity|FMA:67552|NCIT:C34007|MA:0002447 uberon owl:Class HP:0009130 biolink:NamedThing Hand muscle atrophy Muscular atrophy involving the muscles of the hand. tmpxe7fu0cj_hp_relaxed.owl Hand muscle wasting|Hand muscle degeneration|Amyotrophy of hand muscles|Amyotrophy involving the musculature of the hand|Hand muscle wasting, bilateral UMLS:C0239830 This term can be used to described bilateral amyotrophy of the musculature of the hand. peter 2008-04-07T05:01:00Z HP:0006967|HP:0009038|HP:0008934|HP:0008951 human_phenotype owl:Class HP:0007149 biolink:NamedThing Distal upper limb amyotrophy Muscular atrophy of distal arm muscles. tmpxe7fu0cj_hp_relaxed.owl Distal upper limb muscle atrophy UMLS:C4021581 human_phenotype owl:Class HP:0003453 biolink:NamedThing Antineutrophil antibody positivity The presence of autoantibodies in the serum that react against neutrophils. tmpxe7fu0cj_hp_relaxed.owl Neutrophil antibody positive|Antineutrophil antibodies UMLS:C1858981 Circulating serum antibodies are measured by flow cytometry after incubation with normal neutrophils. Values greater than 2 standard deviations of a normal control population are interpreted as weakly positive and greater than 3 standard deviations as positive. owl:Class HP:0030150 biolink:NamedThing Plasmacytosis An abnormally increased number of plasma cells in tissues, exudates, or blood tmpxe7fu0cj_hp_relaxed.owl UMLS:C0549295 A plasma cells (also known as plasma B cell, plasmocyte, or effector B cell), is a short-lived antibody-producing cell derived from a B lymphocyte. owl:Class HP:0004332 biolink:NamedThing Abnormal lymphocyte morphology An abnormality of lymphocytes. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cells of the lymphoid lineage|Abnormal lymphocytes UMLS:C0427546|SNOMEDCT_US:250284007 A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage. peter 2008-02-28T06:46:00Z HP:0012140|HP:0001887 human_phenotype owl:Class GO:0002016 biolink:NamedThing regulation of blood volume by renin-angiotensin tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0003081 biolink:NamedThing regulation of systemic arterial blood pressure by renin-angiotensin tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0004033 biolink:NamedThing Curved olecranon tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025429 human_phenotype owl:Class HP:0004032 biolink:NamedThing Abnormality of the olecranon tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025430 human_phenotype owl:Class HP:0033205 biolink:NamedThing Biceps hyperreflexia Increased intensity of the biceps reflex. tmpxe7fu0cj_hp_relaxed.owl 2020-10-11 14:38:36+00:00 To test the biceps reflex, the examinar should support the forearm of the patient, e.g., by placing it on the forearm of the examiner. The arm is midway between flexion and extension. The examiner places a thumb firmly over the biceps tendon, with the fingers curling around the elbow, and taps briskly. With a normal response, the forearm will flex at the elbow. peter owl:Class HP:0005404 biolink:NamedThing Increased B cell count An abnormal increase from the normal count of B cells. tmpxe7fu0cj_hp_relaxed.owl Increase in B cell count|Increased number of B cells|Increase in B cell number UMLS:C1858972 human_phenotype owl:Class HP:0010975 biolink:NamedThing Abnormal B cell count A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. tmpxe7fu0cj_hp_relaxed.owl Abnormality of B cell count|Abnormal number of B cells|Abnormality of B cell numbers|Abnormal numbers of B cells UMLS:C4021208 peter 2011-02-06T09:38:18Z human_phenotype owl:Class HP:0005876 biolink:NamedThing Progressive flexion contractures Progressively worsening joint contractures. tmpxe7fu0cj_hp_relaxed.owl Joint contractures, progressive UMLS:C3279322 human_phenotype owl:Class HP:0033943 biolink:NamedThing Arcuate vein medial/intimal coagulative necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. tmpxe7fu0cj_hp_relaxed.owl Coagulative necrosis within arcuate vein intima/media 2021-06-24 01:52:16+00:00 peter owl:Class HP:0033942 biolink:NamedThing Arcuate vein medial/intimal necrosis Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney. tmpxe7fu0cj_hp_relaxed.owl Necrosis within arcuate vein intima/media 2021-06-24 01:51:19+00:00 peter owl:Class NBO:0000246 biolink:NamedThing phobia "A pathological anxiety characterized by fear or anxiety triggered by a specific stimulus or situation." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl phobic disorder 2011-04-04T08:52:18Z George Gkoutos behavior_ontology owl:Class NBO:0000244 biolink:NamedThing pathological anxiety tmpxe7fu0cj_hp_relaxed.owl pathological anxiety disorder|hysteria 2011-04-04T08:51:52Z George Gkoutos behavior_ontology owl:Class HP:0011033 biolink:NamedThing Impairment of fructose metabolism An impairment of a fructose metabolic process. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023581 peter 2011-03-05T10:06:29Z human_phenotype owl:Class HP:0041121 biolink:NamedThing Fractured epiphysis of fifth metacarpal bone A partial or complete breakage of the epiphysis of fifth metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl bone epiphysis of fifth metacarpal bone owl:Class HP:0009189 biolink:NamedThing Fragmentation of the metacarpal epiphyses Fragmented appearance of the epiphyses of the metacarpals. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of the long bone of hand UMLS:C4024547 doelkens 2008-12-30T02:03:34Z human_phenotype owl:Class UBERON:0001488 biolink:NamedThing ankle joint A joint that connects the hindlimb autopod and zeugopod skeletons. tmpxe7fu0cj_hp_relaxed.owl talocrural joint|talotibial joint|hock joint|talocrural articulation|mortise joint|hock|gambrel galen:AnkleJoint|MESH:D000843|NCIT:C32078|EMAPA:35126|UMLS:C0003087|MA:0000463|BTO:0004706|GAID:257|OpenCyc:Mx4rvwiy35wpEbGdrcN5Y29ycA|FMA:35195 Ankle:en.svg uberon owl:Class todo - accurately represent different types of ankle joint CHEBI:28815 biolink:NamedThing heparan sulfate A linear polysaccharide in which the backbone consists of a variably sulfated repeating disaccharide unit. tmpxe7fu0cj_hp_relaxed.owl Heparitin sulfate|Heparin sulfate|Heparan sulfate|N-Acetylheparan sulfate|Heparitin monosulfate|Heparan N-sulfate|Heparatan sulfate|Heparan sulphate|Heparin monosulfate 0 (C12H19NO20S3)n Beilstein:8186767|KEGG:D08536|CAS:9050-30-0|PMID:8713797|KEGG:C00925 CHEBI:24502|CHEBI:24507|CHEBI:5661 chebi_ontology owl:Class CHEBI:35721 biolink:NamedThing heparan sulfates tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0500225 biolink:NamedThing Abnormal CSF serine family amino acid concentration Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal serine-family amino acid levels in cerebrospinal fluid 2019-02-25 20:27:34+00:00 owl:Class GO:0043032 biolink:NamedThing positive regulation of macrophage activation Any process that stimulates, induces or increases the rate of macrophage activation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of macrophage polarization|up-regulation of macrophage activation|up regulation of macrophage activation|activation of macrophage activation|stimulation of macrophage activation|upregulation of macrophage activation biological_process owl:Class GO:0002696 biolink:NamedThing positive regulation of leukocyte activation Any process that activates or increases the frequency, rate, or extent of leukocyte activation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of leukocyte activation|positive regulation of immune cell activation|activation of leukocyte activation|stimulation of leukocyte activation|positive regulation of leucocyte activation|upregulation of leukocyte activation|up regulation of leukocyte activation biological_process owl:Class CHEBI:35186 biolink:NamedThing terpene A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2]. tmpxe7fu0cj_hp_relaxed.owl terpenos|terpeno|Terpen|terpenes|terpene chebi_ontology owl:Class CHEBI:24913 biolink:NamedThing isoprenoid Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives. tmpxe7fu0cj_hp_relaxed.owl isoprenoids|isoprenoid LIPID_MAPS_class:LMPR01|PMID:12769708|PMID:19219049 chebi_ontology owl:Class CL:0008019 biolink:NamedThing mesenchymal cell A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration. tmpxe7fu0cj_hp_relaxed.owl mesenchyme cell owl:Class HP:0032539 biolink:NamedThing Joint extensor surface localization Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint. tmpxe7fu0cj_hp_relaxed.owl 2019-05-27 13:48:37+00:00 peter owl:Class HP:0002981 biolink:NamedThing Abnormality of the calf An abnormality of the calf, i.e. of the posterior part of the lower leg. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the calf UMLS:C4021832 human_phenotype owl:Class UBERON:0003975 biolink:NamedThing internal female genitalia The internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina. tmpxe7fu0cj_hp_relaxed.owl female internal genitalia|organa genitalia feminina interna|internal female genital organ|internal genitalia of female reproductive system FMA:45654|SCTID:303518005|BTO:0003099 TODO: Relabel. Make distinct organ class. See https://github.com/obophenotype/uberon/issues/547 uberon owl:Class HP:0009282 biolink:NamedThing Abnormality of the distal phalanx of the 4th finger tmpxe7fu0cj_hp_relaxed.owl Abnormality of the outermost bone of ring finger UMLS:C4024471 doelkens 2009-01-07T04:42:40Z human_phenotype owl:Class UBERON:0010042 biolink:NamedThing 1st arch mesenchyme Mesenchyme that is part of a pharyngeal arch 1. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of 1st arch EMAPA:16128 uberon owl:Class HP:0012434 biolink:NamedThing Delayed social development A failure to meet one or more age-related milestones of social behavior. tmpxe7fu0cj_hp_relaxed.owl Delayed social development UMLS:C4022906 This term should be applied to describe a child whose social development is delayed compared to age-related norms. For instance, at the age of 3 months, a child smiles in response to social interaction, at the age of 7 months, a child responds to the facial expressions of others, and at the age of 12 months a child is shy around strangers. peter 2013-11-23T08:40:29Z human_phenotype owl:Class HP:0012758 biolink:NamedThing Neurodevelopmental delay Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. tmpxe7fu0cj_hp_relaxed.owl NDD UMLS:C4022738 Though the definitions of NDD vary broadly in the literature, all are used to signify a delay in one or more developmental domains compared to typical development. peter 2014-04-03T12:16:19Z owl:Class GO:0002522 biolink:NamedThing leukocyte migration involved in immune response The movement of a leukocyte within or between different tissues and organs of the body as part of an immune response. tmpxe7fu0cj_hp_relaxed.owl leucocyte migration during immune response|leukocyte trafficking during immune response|immune cell migration during immune response|immune cell trafficking during immune response|leucocyte trafficking during immune response biological_process owl:Class GO:0002252 biolink:NamedThing immune effector process Any process of the immune system that executes a component of an immune response. An effector immune process takes place after its activation. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/18737 biological_process owl:Class UBERON:0006312 biolink:NamedThing ocular refractive media Body substance in a liquid or semi-solid state in the eyeball which serves to refract light. tmpxe7fu0cj_hp_relaxed.owl MA:0001911 uberon owl:Class ocular refraction HP:0005039 biolink:NamedThing Multiple long-bone exostoses Multiple exostoses originating in long bones. tmpxe7fu0cj_hp_relaxed.owl Multiple exostoses of long tubular bones UMLS:C1835583 human_phenotype owl:Class HP:0002762 biolink:NamedThing Multiple exostoses Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:254044004|MSH:D005097|UMLS:C0015306 human_phenotype owl:Class UBERON:0013491 biolink:NamedThing cervical fascia Any fascia tissue that is part of the neck region. tmpxe7fu0cj_hp_relaxed.owl fascia of neck FMA:76866 uberon owl:Class UBERON:0008982 biolink:NamedThing fascia A dense regular connective tissue that that connects muscles together[WP, modified]. tmpxe7fu0cj_hp_relaxed.owl fascia cluster NCIT:C13108|FMA:30318|MESH:D005205|UMLS:C0015641|BTO:0002930|EV:0100150 uberon owl:Class HP:0025695 biolink:NamedThing Mucus plug Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0032058 biolink:NamedThing Focal cortical dysplasia type IIId A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 11:25:19+00:00 peter owl:Class HP:0100215 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the middle bone of the pinky toe|Cone-shaped end part of the middle bone of the little toe|Cone-shaped end part of the middle bone of the pinkie toe UMLS:C4022206 doelkens 2010-06-24T05:04:00Z human_phenotype owl:Class HP:0100079 biolink:NamedThing Cone-shaped epiphyses of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the pinkie toe bone|Cone-shaped end part of the little toe bone|Cone-shaped end part of the pinky toe bone UMLS:C4022342 doelkens 2010-06-24T10:00:02Z human_phenotype owl:Class HP:0011773 biolink:NamedThing Uninodular goiter Enlargement of the thyroid gland related to a singular nodule in the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Uninodular goitre UMLS:C0342205|SNOMEDCT_US:237569006 peter 2012-04-22T05:56:30Z human_phenotype owl:Class HP:0005994 biolink:NamedThing Nodular goiter Enlargement of the thyroid gland related to one or more nodules in the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Nodular goitre SNOMEDCT_US:419153005|MSH:D006044|UMLS:C0018023 human_phenotype owl:Class HP:0010105 biolink:NamedThing Short first metatarsal Short first metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl First metatarsal hypoplasia|Short 1st long bone of foot|First metatarsals hypoplastic UMLS:C1841688 doelkens 2009-05-29T12:42:09Z HP:0004680 human_phenotype owl:Class HP:0010918 biolink:NamedThing Abnormal circulating cysteine concentration An abnormality of a cysteine metabolic process. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023652 peter 2010-12-11T11:45:39Z human_phenotype owl:Class HP:0004339 biolink:NamedThing Abnormal circulating sulfur amino acid concentration Any deviation from the normal concentration of a sulfur amino acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of sulfur-containing amino acids|Abnormal circulating sulphur amino acid concentration UMLS:C4021660 Cysteine and methionine contain a sulfur atom. peter 2008-03-08T08:01:00Z human_phenotype owl:Class GO:0140241 biolink:NamedThing translation at synapse Translation that occurs at the synapse. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/synapse/issues/210 Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua. pg 2018-07-15T09:23:12Z biological_process owl:Class GO:0006412 biolink:NamedThing translation The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. tmpxe7fu0cj_hp_relaxed.owl protein formation|protein biosynthesis|protein synthesis|protein biosynthetic process|protein translation|protein anabolism Wikipedia:Translation_(genetics) GO:0043037|GO:0006416|GO:0006453 biological_process owl:Class HP:0009439 biolink:NamedThing Short middle phalanx of the 3rd finger Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger. tmpxe7fu0cj_hp_relaxed.owl Brachymesophalangy III (finger)|Short middle bone of middle finger|Hypoplastic/small middle phalanx of the 3rd finger UMLS:C4021474 doelkens 2009-01-14T03:45:02Z HP:0004177|HP:0006212 owl:Class HP:0031989 biolink:NamedThing Perioral spasm A sudden involuntary contraction of the musculature surrounding the mouth. tmpxe7fu0cj_hp_relaxed.owl 2018-07-09 14:40:12+00:00 peter owl:Class HP:0003394 biolink:NamedThing Muscle spasm Sudden and involuntary contractions of one or more muscles. tmpxe7fu0cj_hp_relaxed.owl Muscle cramps UMLS:C0026821|SNOMEDCT_US:55300003|MSH:D009120 HP:0031988|HP:0009018 owl:Class HP:0032051 biolink:NamedThing Focal cortical dysplasia type II A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 11:09:13+00:00 peter owl:Class HP:0032046 biolink:NamedThing Focal cortical dysplasia A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 10:55:37+00:00 Focal cortical dysplasia is one of the most common entities associated with refractory epilepsy, especially in childhood. peter owl:Class GO:1990778 biolink:NamedThing protein localization to cell periphery A process in which a protein is transported to, or maintained in, the cell periphery. tmpxe7fu0cj_hp_relaxed.owl 2015-06-18T22:37:39Z biological_process owl:Class HP:0040202 biolink:NamedThing Abnormal consumption behavior tmpxe7fu0cj_hp_relaxed.owl Abnormal consumption behaviour UMLS:C4073150 owl:Class GO:0043523 biolink:NamedThing regulation of neuron apoptotic process Any process that modulates the occurrence or rate of cell death by apoptotic process in neurons. tmpxe7fu0cj_hp_relaxed.owl regulation of apoptosis of neurons|regulation of neuronal cell programmed cell death|regulation of neuron programmed cell death|regulation of programmed cell death, neurons|regulation of neuron apoptosis|regulation of apoptosis of neuronal cells|regulation of programmed cell death of neuronal cells biological_process owl:Class GO:1901362 biolink:NamedThing organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic cyclic compound. tmpxe7fu0cj_hp_relaxed.owl organic cyclic compound formation|organic cyclic compound biosynthesis|organic cyclic compound synthesis|organic cyclic compound anabolism bf 2012-09-14T09:05:22Z biological_process owl:Class GO:1901576 biolink:NamedThing organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. tmpxe7fu0cj_hp_relaxed.owl organic substance anabolism|organic molecular entity biosynthetic process|organic molecular entity formation|organic molecular entity biosynthesis|organic substance biosynthesis|organic molecular entity synthesis|organic molecular entity anabolism|organic substance formation|organic substance synthesis pr 2012-11-05T11:04:40Z biological_process owl:Class HP:0005995 biolink:NamedThing Decreased adipose tissue around neck Reduced amount of adipose tissue in the region of the neck. tmpxe7fu0cj_hp_relaxed.owl Loss of adipose tissue around the neck|Loss of fat around neck UMLS:C1837763 human_phenotype owl:Class HP:0003758 biolink:NamedThing Reduced subcutaneous adipose tissue A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. tmpxe7fu0cj_hp_relaxed.owl Decreased subcutaneous adipose tissue|Decreased subcutaneous fat|Scanty adipose tissue|Reduced subcutaneous fat|Reduced fat tissue below the skin UMLS:C0424631|UMLS:C1857657|SNOMEDCT_US:248316006 HP:0007409|HP:0001002 human_phenotype owl:Class HP:0009687 biolink:NamedThing Bracket epiphyses of the thumb An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the thumb bone UMLS:C4024232 doelkens 2009-01-30T09:20:16Z human_phenotype owl:Class HP:0012653 biolink:NamedThing Status asthmaticus Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine. tmpxe7fu0cj_hp_relaxed.owl Acute severe asthma SNOMEDCT_US:708090002|MSH:D013224|UMLS:C0038218 peter 2014-02-12T10:43:34Z owl:Class HP:0002099 biolink:NamedThing Asthma Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. tmpxe7fu0cj_hp_relaxed.owl Bronchial asthma|Asthma|Reactive airway disease SNOMEDCT_US:991000119106|SNOMEDCT_US:195967001|MSH:D001249|UMLS:C3714497|UMLS:C0004096 HP:0002112 owl:Class HP:0033081 biolink:NamedThing Absent TSH response to thyrotrophin-releasing hormone stimulation test Failure to increase serum TSH levels in response to a TRH stimulation test. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033080 biolink:NamedThing Abnormal TSH response to thyrotrophin-releasing hormone stimulation test Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test. tmpxe7fu0cj_hp_relaxed.owl Abnormal TSH response to TRH stimulation test peter owl:Class HP:0010713 biolink:NamedThing 1-5 toe syndactyly Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot). tmpxe7fu0cj_hp_relaxed.owl Syndactyly of all toes|Webbed 1st-5th toes UMLS:C4021235 sdoelken 2010-03-26T05:22:26Z HP:0005812 owl:Class HP:0001770 biolink:NamedThing Toe syndactyly Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". tmpxe7fu0cj_hp_relaxed.owl Syndactyly of toes|Foot syndactyly|Webbed toes|Fused toes|Syndactyly of feet SNOMEDCT_US:32113001|UMLS:C0265660 HP:0001828|HP:0005677 owl:Class GO:0050920 biolink:NamedThing regulation of chemotaxis Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0500042 biolink:NamedThing Latent hypermetropia A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye. tmpxe7fu0cj_hp_relaxed.owl Latent hyperopia 2018-02-02 18:41:23+00:00 ORCID:0000-0001-7941-2961 owl:Class PR:Q64314 biolink:NamedThing hematopoietic progenitor cell antigen CD34 (mouse) A CD34 molecule that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl mCD34|Cd34|CD34 (mouse) UniProtKB:Q64314 Category=organism-gene. protein owl:Class HP:0005136 biolink:NamedThing Mitral annular calcification Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus. tmpxe7fu0cj_hp_relaxed.owl Premature calcification of mitral annulus UMLS:C1835130 MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual. owl:Class HP:0004382 biolink:NamedThing Mitral valve calcification Abnormal calcification of the mitral valve. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0919718|SNOMEDCT_US:473372009 peter 2008-03-18T08:55:00Z HP:0005149|HP:0200129 owl:Class GO:1900121 biolink:NamedThing negative regulation of receptor binding Any process that stops, prevents or reduces the frequency, rate or extent of a protein or other molecule binding to a receptor. tmpxe7fu0cj_hp_relaxed.owl down-regulation of receptor binding|inhibition of receptor binding|inhibition of receptor ligand|downregulation of receptor binding|down regulation of receptor binding|down regulation of receptor-associated protein activity bf 2012-02-22T11:40:57Z biological_process owl:Class GO:1903951 biolink:NamedThing positive regulation of AV node cell action potential Any process that activates or increases the frequency, rate or extent of AV node cell action potential. tmpxe7fu0cj_hp_relaxed.owl positive regulation of atrioventricular node cardiac muscle cell action potential|positive regulation of AV node cardiac muscle cell action potential|up regulation of atrioventricular node cardiac muscle cell action potential|upregulation of AV node cardiac muscle cell action potential|activation of AV node cell action potential|upregulation of AV node cell action potential|activation of atrioventricular node cardiac muscle cell action potential|up-regulation of AV node cardiac muscle cell action potential|up regulation of AV node cardiac muscle cell action potential|up-regulation of atrioventricular node cardiac muscle cell action potential|upregulation of atrioventricular node cardiac muscle cell action potential|activation of AV node cardiac muscle cell action potential|up-regulation of AV node cell action potential|up regulation of AV node cell action potential nc 2015-02-20T14:59:50Z biological_process owl:Class GO:0045760 biolink:NamedThing positive regulation of action potential Any process that activates or increases the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpxe7fu0cj_hp_relaxed.owl activation of action potential|upregulation of action potential|up regulation of action potential|up-regulation of action potential|stimulation of action potential biological_process owl:Class UBERON:0001489 biolink:NamedThing manus joint A skeletal joint that is part of a manus (hand) [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl joint of manus|joint of hand|hand joint|joint of terminal segment of free upper limb|articulationes manus|manual joint EMAPA:32641|MA:0000452 TODO check FMA - use the set class for now uberon owl:Class CHEBI:15428 biolink:NamedThing glycine The simplest (and the only achiral) proteinogenic amino acid, with a hydrogen atom as its side chain. tmpxe7fu0cj_hp_relaxed.owl H2N-CH2-COOH|Aminoacetic acid|glycine|Glykokoll|Aminoessigsaeure|G|Leimzucker|Glycine|Hgly|aminoethanoic acid|Glycocoll|Glycin|Gly|GLYCINE|Glyzin|aminoacetic acid 0 C2H5NO2 InChI=1S/C2H5NO2/c3-1-2(4)5/h1,3H2,(H,4,5) DHMQDGOQFOQNFH-UHFFFAOYSA-N 75.06664 75.03203 NCC(O)=O HMDB:HMDB0000123|KNApSAcK:C00001361|PMID:18816054|PMID:18079355|PMID:18396796|PMID:17970719|PMID:15331688|PMID:19924257|PMID:16918424|PMID:22234938|PMID:19120667|CAS:56-40-6|PMID:16444815|PMID:11542461|PMID:16105183|PMID:16986325|PMID:18440992|MetaCyc:GLY|PMID:12770151|PMID:16998855|PMID:12921899|PMID:18593588|Beilstein:635782|PMID:10930630|PMID:12631515|PMID:22079563|PMID:17154252|PMID:16417482|Drug_Central:1319|PMID:19449910|PMID:19526731|Gmelin:1808|DrugBank:DB00145|PMID:22044190|Wikipedia:Glycine|PMID:22293292|PMID:19738917|PDBeChem:GLY|Reaxys:635782|PMID:22264337|PMID:16901953|YMDB:YMDB00016|ECMDB:ECMDB00123|PMID:22401276|PMID:11806864|PMID:16214212|KEGG:C00037|PMID:11174716|PMID:18840508|KEGG:D00011|PMID:16151895|PMID:11019925|PMID:17383967|PMID:19028609|PMID:19544666|PMID:21751272|PMID:17582620|PMID:15710237|PMID:15388434|PMID:19916621|PMID:22434786|PMID:16664855|PMID:12754315 CHEBI:24368|CHEBI:5460|CHEBI:42964|CHEBI:10792|CHEBI:14344 chebi_ontology owl:Class GO:0097275 biolink:NamedThing cellular ammonium homeostasis Any biological process involved in the maintenance of an internal steady state of ammonium at the level of the cell. tmpxe7fu0cj_hp_relaxed.owl cellular ammonia homeostasis pr 2012-03-22T02:54:38Z biological_process owl:Class GO:1904377 biolink:NamedThing positive regulation of protein localization to cell periphery Any process that activates or increases the frequency, rate or extent of protein localization to cell periphery. tmpxe7fu0cj_hp_relaxed.owl activation of protein localization to cell periphery|up-regulation of protein localization to cell periphery|up regulation of protein localization to cell periphery|upregulation of protein localization to cell periphery sl 2015-06-22T22:09:37Z biological_process owl:Class HP:0410205 biolink:NamedThing Abnormal circulating nicotinurate concentration Any deviation from the normal concentration of nicotinurate in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating nicotinurate level|Abnormal circulating N-nicotinoylglycine level 2018-09-11 23:40:08+00:00 Nicotinuric acid is an acyl glycine, which are normally minor metabolites of fatty acids. However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism. In certain cases the measurement of these metabolites in body fluids can be used to diagnose disorders associated with mitochondrial fatty acid beta-oxidation. Nicotinuric acid is the major detoxification product of nicotinic acid. It may serve as a simple quantitative index of hepatic biotransformation of nicotinic acid. owl:Class HP:0430009 biolink:NamedThing Hypoplasia of eyelid Developmental hypoplasia of the eyelid. tmpxe7fu0cj_hp_relaxed.owl Decreased size of eyelid|Underdevelopment of eyelid|Short eyelid|Small eyelid UMLS:C0344499|SNOMEDCT_US:204203001|UMLS:C4280274 owl:Class UBERON:0001884 biolink:NamedThing phrenic nerve A nerve that arises from the caudal cervical nerves and is primarily the motor nerve of the diaphragm but also sends sensory fibers to the pericardium. tmpxe7fu0cj_hp_relaxed.owl phrenic|diaphragmatic nerve|nervus phrenicus Wikipedia:Phrenic_nerve|FMA:6191|OpenCyc:Mx4rvtmdUJwpEbGdrcN5Y29ycA|MESH:D010791|MA:0001170|EHDAA:4677|GAID:848|BAMS:phn|SCTID:280344009|UMLS:C0031774|BTO:0001063|EMAPA:17813|NCIT:C52813|VHOG:0000728 http://upload.wikimedia.org/wikipedia/commons/3/3c/Gray806.png uberon owl:Class A nerve that arises from the caudal cervical nerves and is primarily the motor nerve of the diaphragm but also sends sensory fibers to the pericardium. [TFD][VHOG] HP:0001946 biolink:NamedThing Ketosis Presence of elevated levels of ketone bodies in the body. tmpxe7fu0cj_hp_relaxed.owl Hyperketosis|High levels of ketone bodies UMLS:C0235430|SNOMEDCT_US:213281004|MSH:D007662|SNOMEDCT_US:2538008|UMLS:C0022638 Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded. The predominant ketones being acetoacetate, acetone, and beta-hydroxybutyrate. HP:0003543 human_phenotype owl:Class GO:0086029 biolink:NamedThing Purkinje myocyte to ventricular cardiac muscle cell signaling Any process that mediates the transfer of information from a Purkinje myocyte to a ventricular cardiac muscle cell. tmpxe7fu0cj_hp_relaxed.owl Purkinje myocyte to ventricular cardiac muscle cell signalling tb 2011-11-11T02:02:14Z biological_process owl:Class GO:0086019 biolink:NamedThing cell-cell signaling involved in cardiac conduction Any process that mediates the transfer of information from one cell to another and contributes to the heart process that regulates cardiac muscle contraction; beginning with the generation of an action potential in the sinoatrial node and ending with regulation of contraction of the myocardium. tmpxe7fu0cj_hp_relaxed.owl cell-cell signalling involved in cardiac conduction dph 2011-11-16T03:43:52Z biological_process owl:Class HP:0031908 biolink:NamedThing Micrographia Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task. tmpxe7fu0cj_hp_relaxed.owl 2018-05-19 15:50:06+00:00 peter owl:Class HP:0006369 biolink:NamedThing Irregular patellae An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour. tmpxe7fu0cj_hp_relaxed.owl Irregular patellar margins|Irregular patellar contour UMLS:C1836870 HP:0006458 human_phenotype owl:Class UBERON:0013231 biolink:NamedThing sebaceous gland of eyelid Any of the sebaceous glands that are in the eyelid. Examples: gland of Zeis (services eyelashes), gland of Meibom (tarsal gland - unconnected to eyelids). tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0000930 biolink:NamedThing Elevated imprint of the transverse sinuses tmpxe7fu0cj_hp_relaxed.owl Elevated imprint of posterior skull bones over the transverse sinuses|Elevated imprint of occipital bone over the transverse sinuses|Thinning and bulging of posterior skull bones over the transverse sinuses|Thinning and bulging of occipital bone over the transverse sinuses UMLS:C4025817 human_phenotype owl:Class HP:0010571 biolink:NamedThing Elevated levels of phytanic acid An abnormal elevation of phytanic acid. tmpxe7fu0cj_hp_relaxed.owl Elevated levels of phytanic acid UMLS:C4023786 Phytanic acid (3,7,11,15-tetramethyl hexadecanoic acid) is a fatty acid that is derived from chlorophyll and present in the diet. The metabolism of phytanic acid involves alpha-oxidation in the peroxisome, which converts phytanic acid to pristanic acid. Peroxisomes involved in the catabolism of very long chain fatty acids and phytanic acid. Peroxisomal malfunctioning can lead to over-accumulation of very long chain fatty acids and phytanic acid, among other things. peter 2009-10-20T07:19:29Z human_phenotype owl:Class HP:0010965 biolink:NamedThing Abnormal circulating phytanic acid concentration Any deviation from the normal concentration of phytanic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating phytanic acid level UMLS:C4023623 Phytanic acid is a branched-chain saturated fatty acid consisting of hexadecanoic acid carrying methyl substituents at positions 3, 7, 11 and 15. peter 2011-01-27T08:07:48Z owl:Class HP:0001971 biolink:NamedThing Hypersplenism A malfunctioning of the spleen in which it prematurely destroys red blood cells. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:58381000|MSH:D006971|UMLS:C0020532 The spleen normally functions to remove senescent red blood cells (RBCs) from the circulation. Hypersplenism represents a pathological acceleration of this function, resulting in the premature removal from the circulation of RBCs and other cellular components of the blood, often accompanied by an increase in size of the spleen (splenomegaly). human_phenotype owl:Class HP:0025409 biolink:NamedThing Abnormal spleen physiology Any anomaly of the function of the spleen. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 10:56:59+00:00 HPO:probinson owl:Class HP:0001681 biolink:NamedThing Angina pectoris Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0002962|SNOMEDCT_US:225566008|MSH:D000787|SNOMEDCT_US:194828000 owl:Class HP:0012340 biolink:NamedThing Decreased resting energy expenditure A reduction in the number of calories used per unit time. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022947 peter 2013-09-13T09:27:05Z human_phenotype owl:Class HP:0009329 biolink:NamedThing Small epiphysis of the middle phalanx of the 3rd finger Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of the middle bone of the middle finger UMLS:C4024437 doelkens 2009-01-12T11:15:44Z human_phenotype owl:Class HP:0009418 biolink:NamedThing Small epiphyses of the 3rd finger Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of middle finger bone UMLS:C4024376 doelkens 2009-01-14T02:01:59Z human_phenotype owl:Class GO:2000737 biolink:NamedThing negative regulation of stem cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of stem cell differentiation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-06-14T02:05:20Z biological_process owl:Class GO:2000736 biolink:NamedThing regulation of stem cell differentiation Any process that modulates the frequency, rate or extent of stem cell differentiation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-06-14T02:05:16Z biological_process owl:Class UBERON:0004042 biolink:NamedThing spleen secondary B follicle The nodules of antigen-activated, differentiating B cells, follicular dendritic cells, antigen-presenting T cells and macrophages in the spleen white pulp. tmpxe7fu0cj_hp_relaxed.owl splenic secondary B cell follicle|secondary spleen B cell follicle EMAPA:37961 uberon owl:Class UBERON:0001745 biolink:NamedThing secondary nodular lymphoid tissue A lymphoid follicle that contains a germinal center. tmpxe7fu0cj_hp_relaxed.owl secondary lymphoid tissue|secondary lymphoid nodule|peripheral lymphoid tissue FMA:55224|GAID:946 http://upload.wikimedia.org/wikipedia/commons/2/2f/Keimzentrum.jpg uberon owl:Class HP:0025398 biolink:NamedThing Nodular-perilymphatic pattern on pulmonary HRCT A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution. tmpxe7fu0cj_hp_relaxed.owl 2017-04-22 13:12:36+00:00 HPO:probinson owl:Class HP:0025392 biolink:NamedThing Nodular pattern on pulmonary HRCT A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. tmpxe7fu0cj_hp_relaxed.owl 2017-04-22 12:59:43+00:00 HPO:probinson owl:Class HP:0410178 biolink:NamedThing Increased glucose-6-phosphate dehydrogenase level in blood An increase in the level of glucose-6-phosphate dehydrogenase in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased G6PD level in blood 2018-05-21 17:55:36+00:00 owl:Class HP:0033141 biolink:NamedThing Severe SARS-CoV-2 infection Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation. tmpxe7fu0cj_hp_relaxed.owl 2020-09-15 10:19:28+00:00 peter owl:Class HP:0031691 biolink:NamedThing Severe viral infection An unusually severe viral infection. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 22:28:59+00:00 The majority of viral infections acquired by nonimmunosuppressed individuals are asymptomatic or result in mild clinical manifestations. These individuals are able to mount effective immune responses that either clear the virus from the body or, for viruses that establish latency, maintain the virus in a dormant state. For individuals who are immunocompromised, because of a genetic immunodeficiency or immunosuppressive drug therapy, viral infections may result in life-threatening disease. Such patients present with infections that are severe, persistent, recurrent, or refractory to therapy and are usually caused by viruses of low virulence prevalent in the community. peter owl:Class HP:0000189 biolink:NamedThing Narrow palate Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). tmpxe7fu0cj_hp_relaxed.owl Narrow roof of mouth|Narrow palate|Decreased palatal width|Decreased transverse dimension of palate UMLS:C1398312 Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow. human_phenotype owl:Class PATO:0001481 biolink:NamedThing sloped A shape quality inhering in a bearer by virtue of the bearer's having an oblique or slanted direction. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0001397 biolink:NamedThing Hepatic steatosis Steatosis is a term used to denote lipid accumulation within hepatocytes. tmpxe7fu0cj_hp_relaxed.owl Liver steatosis|Fatty infiltration of liver|Fatty liver|Steatosis SNOMEDCT_US:197321007|UMLS:C2711227|MSH:D005234|SNOMEDCT_US:442191002 Although steatosis is the hallmark of the fatty liver disease, it is not a specific feature because it can be seen as part of other disease processes, such as drug injury, Wilson disease, or hepatitis C virus infection (especially genotype-3). Involvement of less than 5% of the hepatocytes by steatosis is considered clinically insignificant and within reference range. Based on the morphologic appearance and the size of the lipid droplets within the cytoplasm of the hepatocytes, steatosis is characterized as macrovesicular or microvesicular. Macrovesicular steatosis is characterized by large lipid droplets occupying the cytoplasm, displacing the nucleus to the periphery (large droplet macrovesicular steatosis) or multiple small lipid droplets of variable size occupying the cytoplasm with the nucleus maintaining its central location (small droplet macrovesicular steatosis). Microvesicular steatosis is characterized by innumerable tiny, relatively uniform lipid vacuoles that result in a bubbly appearance of the hepatocytes. HP:0002252|HP:0200121 owl:Class HP:0006561 biolink:NamedThing Lipid accumulation in hepatocytes tmpxe7fu0cj_hp_relaxed.owl UMLS:C1837257 human_phenotype owl:Class GO:0045820 biolink:NamedThing negative regulation of glycolytic process Any process that stops, prevents, or reduces the frequency, rate or extent of glycolysis. tmpxe7fu0cj_hp_relaxed.owl downregulation of glycolysis|down regulation of glycolysis|inhibition of glycolysis|down-regulation of glycolysis biological_process owl:Class GO:0042476 biolink:NamedThing odontogenesis The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. tmpxe7fu0cj_hp_relaxed.owl tooth development|tooth morphogenesis|odontosis|odontogenesis of calcareous or chitinous tooth|odontogeny Wikipedia:Odontogenesis GO:0042477 biological_process owl:Class HP:0003051 biolink:NamedThing Enlarged metaphyses Abnormal increase in size of one or more metaphyses. tmpxe7fu0cj_hp_relaxed.owl Enlarged wide portion of a long bone UMLS:C1855544 HP:0005018 human_phenotype owl:Class HP:0005535 biolink:NamedThing Exercise-induced hemolysis A form of hemolytic anemia that can be triggered by exertion. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025182 human_phenotype owl:Class UBERON:0001453 biolink:NamedThing distal tarsal bone 2 Endochondral tarsal bone articulating with centralia and metatarsal 2. tmpxe7fu0cj_hp_relaxed.owl foot distal carpal bone 2|intermediate cuneiform bone|os tarsale II|os cuneiforme intermedium|distal tarsal 2|second cuneiform bone|os cuneiforme secundum|mesocuneiforme|middle cuneiform|tarsal 2|2nd cuneiform|second cuneiform bone of foot|distal tarsal 2 bone|cuneiforme 2|intermediate cuneiform|middle cuneiform bone of foot VSAO:0005053|AAO:0000919|NCIT:C33116|MA:0001353|EMAPA:36177|FMA:24519|galen:IntermediateCuneiform|BTO:0002359|UMLS:C1513292 The intermediate cuneiform (also known as second cuneiform / middle cuneiform) is shaped like a wedge, the thin end pointing downwards. It is situated between the other two cuneiforms (the medial and lateral cuneiforms), and articulates with the navicular posteriorly, the second metatarsal anteriorly and with the other cuneiforms on either side. [WP,unvetted] http://upload.wikimedia.org/wikipedia/commons/5/52/Gray291.png uberon owl:Class Small element that articulates anteriorly with metatarsal II. It may be fused to tarsal 1 or to tarsal 3.[AAO] GO:0034249 biolink:NamedThing negative regulation of cellular amide metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amides. tmpxe7fu0cj_hp_relaxed.owl negative regulation of amide metabolism biological_process owl:Class HP:0100098 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the middle bone of the pinky toe|Abnormality of the end part of the middle bone of the little toe|Abnormality of the end part of the middle bone of the pinkie toe UMLS:C4022323 doelkens 2010-06-24T10:02:41Z human_phenotype owl:Class HP:0100906 biolink:NamedThing Sclerosis of the middle phalanx of the 4th finger tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the middle bone of the ring finger UMLS:C4021936 human_phenotype owl:Class HP:0034110 biolink:NamedThing Anti-Gerbich phenotype 1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1. tmpxe7fu0cj_hp_relaxed.owl Anti-Ge-1 antibody positivity 2021-12-19 15:14:02+00:00 peter owl:Class UBERON:0002210 biolink:NamedThing syndesmosis Fibrous joint in which the articulating bones or cartilages of the vertebral column and the limbs as well as articulating ossicles, are connected by skeletal ligaments or membranes. Examples: Intervertebral syndesmosis, inferior tibiofibular joint.[FMA]. tmpxe7fu0cj_hp_relaxed.owl FMA:7494|MA:0001500|EMAPA:37465 uberon owl:Class UBERON:0014852 biolink:NamedThing chorda tendinea of right ventricle Chorda tendinea which is attached to the leaflet of tricuspid valve and is continuous with the endocardium of papillary muscle of right ventricle. tmpxe7fu0cj_hp_relaxed.owl FMA:9300 uberon owl:Class UBERON:0005994 biolink:NamedThing chorda tendineae The tendinous strands that connect the papillary muscles on the wall of the ventricles to the leaflets of the atrioventricular valves; the chordae tendineae serve to prevent the AV valves from prolapsing back into the atria. tmpxe7fu0cj_hp_relaxed.owl chordae tendineae cordis|chordae tendinea GAID:564|MESH:D002815|NCIT:C32307|FMA:12225|EMAPA:36322|UMLS:C0008484 http://upload.wikimedia.org/wikipedia/commons/6/6c/Gray493.png uberon owl:Class HP:0500161 biolink:NamedThing Increased level of carnosine in blood An increased amount of carnosine in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood carnosine levels|Increased blood carnosine concenrtation 2018-10-05 16:07:32+00:00 owl:Class HP:0500160 biolink:NamedThing Abnormal circulating carnosine concentration Any deviation from the normal concentration of carnosine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of carnosine metabolism 2018-10-05 15:52:07+00:00 Carnosine is a neuroprotective dipeptide consisting of beta-alanine and L-histidine. owl:Class HP:0031033 biolink:NamedThing Impaired urinary acidification The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. tmpxe7fu0cj_hp_relaxed.owl Renal acidification defect 2017-05-27 11:07:24+00:00 peter owl:Class HP:0009951 biolink:NamedThing Partial duplication of the distal phalanx of the 2nd finger Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the outermost bone of the 2nd finger|Notched outermost bone of the index finger|Bifid terminal phalanx of the 2nd finger UMLS:C4021365 doelkens 2009-05-15T02:03:28Z human_phenotype owl:Class HP:0000905 biolink:NamedThing Progressive clavicular acroosteolysis Progressive bone resorption in the distal part of the clavicle. tmpxe7fu0cj_hp_relaxed.owl Progressive acroosteolysis of the clavicle UMLS:C1837757 owl:Class HP:0002797 biolink:NamedThing Osteolysis Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. tmpxe7fu0cj_hp_relaxed.owl Breakdown of bone|Osteolytic defects of bones|Increased bone resorption UMLS:C0221204|SNOMEDCT_US:30425001|SNOMEDCT_US:203522001|MSH:D010014 Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms. HP:0010737 owl:Class HP:0002453 biolink:NamedThing Abnormal globus pallidus morphology An abnormality of the globus pallidus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025706 The globus pallidus is a cerebral nucleus located medially to the putamen and laterally to the internal capsule. HP:0007040 human_phenotype owl:Class HP:0031481 biolink:NamedThing Abnormal mitral valve physiology Any functional anomaly of the mitral valve. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 22:37:40+00:00 peter owl:Class HP:0031650 biolink:NamedThing Abnormal atrioventricular valve physiology Any functional defect of the mitral or tricuspid valve. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 15:17:45+00:00 peter owl:Class CHEBI:83925 biolink:NamedThing non-proteinogenic alpha-amino acid Any alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. tmpxe7fu0cj_hp_relaxed.owl non-proteinogenic alpha-amino-acid|non-proteinogenic alpha-amino-acids|non-proteinogenic alpha-amino acids chebi_ontology owl:Class UBERON:0004054 biolink:NamedThing internal male genitalia The internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands. tmpxe7fu0cj_hp_relaxed.owl internal male genital organ|male internal genitalia|organa genitalia masculina interna FMA:45655|BTO:0003096 TODO: Relabel. Make distinct organ class. See https://github.com/obophenotype/uberon/issues/547 consider splitting genitalia from genital organ uberon owl:Class UBERON:0003135 biolink:NamedThing male reproductive organ A male organ involved in reproduction. tmpxe7fu0cj_hp_relaxed.owl male sex organ|male organism reproductive organ|male genital|reproductive organ of male organism|male reproductive system organ|reproductive system organ of male organism|reproductive structure of male organism|male organism sex organ|male organism reproductive system organ|male organism reproductive structure|male reproductive gland/organ|sex organ of male organism WBbt:0008423|MA:0000545 uberon owl:Class HP:0009633 biolink:NamedThing Osteolytic defect of the proximal phalanx of the thumb Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Osteolytic defects of the proximal phalanx of the thumb UMLS:C4021420 doelkens 2009-01-29T05:09:41Z human_phenotype owl:Class HP:4000055 biolink:NamedThing Intestinal inflammation A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 21:44:53+00:00 robinp owl:Class HP:0004386 biolink:NamedThing Gastrointestinal inflammation Inflammation of the alimentary part of the gastrointestinal system. tmpxe7fu0cj_hp_relaxed.owl GI inflammation|Gastrointestinal inflammation UMLS:C1535950 peter 2008-03-18T09:01:00Z human_phenotype owl:Class UBERON:0015081 biolink:NamedThing proximal tarsal endochondral element A proximal mesopodial endochondral element that is part of a hindlimb. tmpxe7fu0cj_hp_relaxed.owl proximal tarsal uberon owl:Class UBERON:0002089 biolink:NamedThing thoracodorsal vein Companion vein of the thoracodorsal artery, draining the apical part of the latissimus dorsi and merging with the circumflex scapular vein to form a subscapular vein. tmpxe7fu0cj_hp_relaxed.owl MA:0002238|FMA:71213|EMAPA:37198 uberon owl:Class CL:0008028 biolink:NamedThing visual system neuron tmpxe7fu0cj_hp_relaxed.owl dos 2017-07-09 19:12:36+00:00|2017-07-09T19:12:36Z owl:Class GO:1901465 biolink:NamedThing positive regulation of tetrapyrrole biosynthetic process Any process that activates or increases the frequency, rate or extent of tetrapyrrole biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl up-regulation of tetrapyrrole formation|upregulation of tetrapyrrole anabolism|up regulation of tetrapyrrole biosynthetic process|up-regulation of tetrapyrrole biosynthesis|up regulation of tetrapyrrole anabolism|positive regulation of tetrapyrrole biosynthesis|positive regulation of tetrapyrrole formation|upregulation of tetrapyrrole synthesis|activation of tetrapyrrole biosynthesis|up-regulation of tetrapyrrole synthesis|activation of tetrapyrrole synthesis|up-regulation of tetrapyrrole anabolism|activation of tetrapyrrole formation|upregulation of tetrapyrrole biosynthetic process|up-regulation of tetrapyrrole biosynthetic process|up regulation of tetrapyrrole synthesis|upregulation of tetrapyrrole formation|up regulation of tetrapyrrole formation|positive regulation of tetrapyrrole synthesis|activation of tetrapyrrole biosynthetic process|up regulation of tetrapyrrole biosynthesis|activation of tetrapyrrole anabolism|positive regulation of tetrapyrrole anabolism|upregulation of tetrapyrrole biosynthesis tt 2012-10-02T14:35:43Z biological_process owl:Class HP:0010979 biolink:NamedThing Abnormality of lipoprotein cholesterol concentration An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the level of lipoprotein cholesterol UMLS:C4023615 Lipoproteins transport fats (lipids) in the blood circulation. Lipids are insoluble in water, meaning that they could not be transported in the blood circulation on their own. There are five major types of lipoproteins: (i) chylomicrons; VLDL (very low-density lipoprotein); (iii) IDL (intermediate-density lipoprotein); (iv) LDL (low-density lipoprotein); and (v) HDL (high-density lipoprotein). Clinical measures assess the amount of cholesterol carried by different lipoproteins. For instance, LDL-cholesterol (LDL-C) is the maount of cholesterol carried by LDL. peter 2011-02-07T09:47:29Z human_phenotype owl:Class HP:0003107 biolink:NamedThing Abnormal circulating cholesterol concentration Any deviation from the normal concentration of cholesterol in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal cholesterol homeostasis|Abnormality of cholesterol metabolism UMLS:C4025656 peter 2008-03-17T01:02:00Z HP:0003464 human_phenotype owl:Class HP:0031234 biolink:NamedThing Neutrophilic infiltration of the skin A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin). tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 19:34:51+00:00 peter owl:Class UBERON:0001847 biolink:NamedThing lobule of pinna The soft lower part of the external ear, projecting below the antitragus. tmpxe7fu0cj_hp_relaxed.owl earlobe|lobule of auricle of ear|lobulus auriculae|ear lobe|lobe of ear|auricular lobule|pinna lobule|ear lobule|lobule of auricle NCIT:C32999|UMLS:C0229315|MA:0002468|FMA:60984 uberon owl:Class The earlobe is composed of tough areolar and adipose (fatty) connective tissues, lacking the firmness and elasticity of the rest of the pinna. Since the earlobe does not contain cartilage the earlobe has a large blood supply and may help to warm the ears and maintain balance but generally earlobes are not considered to have any major biological function. HP:0100449 biolink:NamedThing Curved distal phalanx of the 3rd toe A deviation from the normal straight form of the distal phalanx of the third toe. tmpxe7fu0cj_hp_relaxed.owl Curved outermost bone of the 3rd toe UMLS:C4022078 human_phenotype owl:Class HP:0010368 biolink:NamedThing Abnormality of the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the outermost bone of the 3rd toe UMLS:C4023878 doelkens 2009-07-16T11:51:17Z human_phenotype owl:Class PATO:0001407 biolink:NamedThing mononucleate A nucleate quality inhering in a bearer by virtue of the bearer's having one nucleus. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0025418 biolink:NamedThing Renal cortical necrosis Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct. tmpxe7fu0cj_hp_relaxed.owl Necrosis of the kidney cortex 2017-04-23 11:45:23+00:00 Renal cortical necrosis is a type of actue kidney injury that results from insufficient perfusion of the renal cortex. Cortical necrosis commonly manifests clinically as a rapid loss of glomerular filtration rate, often with oliguria, granular casts, and low-level proteinuria. The key diagnostic features of renal cortical necrosis are (i) pale tissue with typical appearance of coagulative necrosis, affecting both tubules and glomeruli; (ii) pyknotic nuclei; and (iii) simplified, flattened epithelium of proximal tubules. HPO:probinson owl:Class HP:0032618 biolink:NamedThing Renal necrosis Cell death (necrosis) affecting one or more parts of the kidney. tmpxe7fu0cj_hp_relaxed.owl Renal parenchymal necrosis peter owl:Class HP:0004800 biolink:NamedThing Duodenal diverticula tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:197083003|UMLS:C0341266 human_phenotype owl:Class HP:0030540 biolink:NamedThing Unaided visual acuity 0.5 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073014 owl:Class CHEBI:17823 biolink:NamedThing calcitriol A hydroxycalciol that is calcidiol in which the pro-S hydrogen of calcidiol is replaced by a hydroxy group. It is the active form of vitamin D3, produced fom calciol via hydoxylation in the liver to form calcidiol, which is subsequently oxidised in the kidney to give calcitriol. tmpxe7fu0cj_hp_relaxed.owl (1S,3R,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol|(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10-triene-1,3,25-triol|Calcitriol|1alpha,25(OH)2D3|5-{2-[1-(5-HYDROXY-1,5-DIMETHYL-HEXYL)-7A-METHYL-OCTAHYDRO-INDEN-4-YLIDENE]-ETHYLIDENE}-4-METHYLENE-CYCLOHEXANE-1,3-DIOL|Calcijex|calcitriol|calcitriolum|(1alpha,3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol|1alpha,25-dihydroxyvitamin D3|Decostriol|Rocaltrol|(5Z,7E)-(1S,3R)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol|1,25-DHCC|1-alpha-25-Dihydroxyvitamin D3|1alpha,25-dihydroxycholecalciferol 0 C27H44O3 InChI=1S/C27H44O3/c1-18(8-6-14-26(3,4)30)23-12-13-24-20(9-7-15-27(23,24)5)10-11-21-16-22(28)17-25(29)19(21)2/h10-11,18,22-25,28-30H,2,6-9,12-17H2,1,3-5H3/b20-10+,21-11-/t18-,22-,23-,24+,25+,27-/m1/s1 GMRQFYUYWCNGIN-NKMMMXOESA-N 416.63646 416.32905 [H][C@@]1(CC[C@@]2([H])\C(CCC[C@]12C)=C\C=C1\C[C@@H](O)C[C@H](O)C1=C)[C@H](C)CCCC(C)(C)O PMID:15928596|PMID:23103122|PMID:10217585|PMID:23144765|PMID:19429426|Drug_Central:466|PMID:22905919|Beilstein:2227647|PMID:20599255|DrugBank:DB00136|CAS:32222-06-3|Wikipedia:Calcitriol|PMID:6687801|Reaxys:2227647|LIPID_MAPS_instance:LMST03020258|MetaCyc:CALCITRIOL|KEGG:D00129|KEGG:C01673|PDBeChem:VDX CHEBI:3307|CHEBI:46435|CHEBI:13932|CHEBI:19209 chebi_ontology owl:Class CHEBI:27136 biolink:NamedThing triol A chemical compound containing three hydroxy groups. tmpxe7fu0cj_hp_relaxed.owl triols chebi_ontology owl:Class GO:0035887 biolink:NamedThing aortic smooth muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell surrounding the aorta. tmpxe7fu0cj_hp_relaxed.owl bf 2011-06-08T11:34:26Z biological_process owl:Class GO:0035886 biolink:NamedThing vascular associated smooth muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a vascular smooth muscle cell. tmpxe7fu0cj_hp_relaxed.owl vascular smooth muscle cell differentiation|VSMC differentiation bf 2011-06-08T11:23:52Z biological_process owl:Class PR:000001327 biolink:NamedThing cadherin A protein that has a core domain structure of signal sequence, propeptide, five Cadherin domains (Pfam:PF00028), a transmembrane region, and a Cadherin cytoplasmic region (Pfam:PF01049). Cadherins function as adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in solid tissues. tmpxe7fu0cj_hp_relaxed.owl PIRSF:PIRSF002504 Category=family. protein owl:Class UBERON:0003662 biolink:NamedThing forelimb muscle Any muscle organ that is part of a forelimb. tmpxe7fu0cj_hp_relaxed.owl upper limb skeletal muscle|musculature of arm|wing muscle|muscle of free upper limb|arm muscle system|free upper limb muscle|musculature of the arm|fore limb muscle organ|forelimb muscle organ|muscle of upper limb EMAPA:36049|FMA:37348|AAO:0000204|BTO:0000479 UBERON:0005634 uberon owl:Class FMA and MA class actually refer to muscles of entire pectoral complex HP:0009003 biolink:NamedThing Increased subcutaneous truncal adipose tissue The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body. tmpxe7fu0cj_hp_relaxed.owl Increased fat below the skin in trunk UMLS:C1837781 human_phenotype owl:Class HP:0001001 biolink:NamedThing Abnormality of subcutaneous fat tissue tmpxe7fu0cj_hp_relaxed.owl Abnormality of fatty tissue below the skin UMLS:C4025813 owl:Class UBERON:0007262 biolink:NamedThing intervertebral disk of fifth cervical vertebra An intervertebral disk that connects a mammalian cervical vertebra 5 and connects a mammalian cervical vertebra 6. tmpxe7fu0cj_hp_relaxed.owl intervertebral disc of fifth cervical vertebra|intervertebral disk, C5-C6 EMAPA:19428|FMA:13898 uberon owl:Class HP:0033045 biolink:NamedThing Bipedal edema A palpable swelling in both feet and ankles caused by palpable swelling caused by an increase in interstitial fluid volume (excess fulid). tmpxe7fu0cj_hp_relaxed.owl Bipedal oedema peter owl:Class HP:0010741 biolink:NamedThing Pedal edema An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. tmpxe7fu0cj_hp_relaxed.owl Peripheral edema of lower extremity|Pedal oedema|Dependant edema|Oedema of the lower limbs|Leg edema|Dependant oedema|Lower leg swelling|Peripheral oedema of lower extremity|Leg oedema|Fluid accumulation in lower limbs|Edema of the lower limbs SNOMEDCT_US:102572006|UMLS:C0239340|UMLS:C0235886 doelkens 2010-04-22T02:16:54Z owl:Class HP:0032219 biolink:NamedThing Increased proportion of CD4-positive T cells An elevation in the proportion of CD4-positive T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Elevated proportion of CD4-positive T cells|Increased proportion of CD4+ T cells|Increased proportion of CD4-positive, alpha-beta T cells 2019-01-21 00:48:54+00:00 peter owl:Class HP:0031392 biolink:NamedThing Abnormal proportion of CD4-positive T cells Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal proportion of CD4+ T cells|Abnormal proportion of CD4-positive, alpha-beta T cells 2017-09-02 17:05:31+00:00 peter owl:Class GO:0050669 biolink:NamedThing negative regulation of homocysteine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving homocysteine. tmpxe7fu0cj_hp_relaxed.owl negative regulation of Hcy metabolism|down-regulation of homocysteine metabolic process|negative regulation of Hcy metabolic process|negative regulation of homocysteine metabolism|inhibition of homocysteine metabolic process|down regulation of homocysteine metabolic process|downregulation of homocysteine metabolic process biological_process owl:Class HP:0100023 biolink:NamedThing Recurrent hand flapping A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022387 doelkens 2010-05-28T12:10:09Z human_phenotype owl:Class HP:0010166 biolink:NamedThing Fragmentation of the epiphyses of the toes tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the toe bones UMLS:C4023993 doelkens 2009-05-29T01:34:06Z human_phenotype owl:Class HP:0010160 biolink:NamedThing Abnormality of the epiphyses of the toes tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the toe bones UMLS:C4023999 doelkens 2009-05-29T01:30:42Z human_phenotype owl:Class HP:0034061 biolink:NamedThing Anti-steroid 17alpha-hydroxylase antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase. tmpxe7fu0cj_hp_relaxed.owl Anti-P450C17 2021-12-18 14:04:25+00:00 peter owl:Class HP:0012683 biolink:NamedThing Pineal cyst A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:413099000|UMLS:C1335411 Pineal cysts are benign and often asymptomatic lesions. They are typically visualized by computed tomography or magnetic resonance imaging. peter 2014-03-22T01:01:45Z human_phenotype owl:Class HP:0006951 biolink:NamedThing Retrocerebellar cyst tmpxe7fu0cj_hp_relaxed.owl UMLS:C1845370 human_phenotype owl:Class HP:0002350 biolink:NamedThing Cerebellar cyst tmpxe7fu0cj_hp_relaxed.owl Cerebellar cysts UMLS:C1847762 human_phenotype owl:Class UBERON:0003572 biolink:NamedThing chest connective tissue A portion of connective tissue that is part of a chest [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl front of thorax connective tissue|textus connectivus of anterolateral part of thorax|anterior thoracic region portion of connective tissue|portion of connective tissue of anterolateral part of thorax|front of thorax textus connectivus|connective tissue of front of thorax|portion of connective tissue of front of thorax|anterior thoracic region textus connectivus|chest portion of connective tissue|textus connectivus of anterior thoracic region|textus connectivus of chest|connective tissue of anterolateral part of thorax|portion of connective tissue of chest|connective tissue of anterior thoracic region|chest textus connectivus|anterolateral part of thorax textus connectivus|anterolateral part of thorax portion of connective tissue|portion of connective tissue of anterior thoracic region|front of thorax portion of connective tissue|textus connectivus of front of thorax|anterolateral part of thorax connective tissue|connective tissue of chest|anterior thoracic region connective tissue MA:0000550|EMAPA:37254 uberon owl:Class UBERON:0003837 biolink:NamedThing thoracic segment connective tissue A portion of connective tissue that is part of a thorax [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl connective tissue of thorax|textus connectivus of thorax|thorax portion of connective tissue|thorax connective tissue|portion of connective tissue of thorax|thorax textus connectivus|upper body connective tissue EMAPA:37253|MA:0000560 uberon owl:Class HP:0100847 biolink:NamedThing Palmoplantar pustulosis A chronic, relapsing, pustular eruption that is localized to the palms and soles. tmpxe7fu0cj_hp_relaxed.owl Palmoplantar pustules|Pustulosis palmaris et plantaris|Pustulosis of palms and soles MEDDRA:10050185|MSH:D011565|SNOMEDCT_US:27520001|UMLS:C0030246 There are recurrent and painful eruptions of pustules on the palms and the soles of feet that may resolve with red-brown discoloration. doelkens 2011-06-09T07:07:06Z human_phenotype owl:Class HP:0200039 biolink:NamedThing Pustule A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. tmpxe7fu0cj_hp_relaxed.owl Pustules|Pimple|Skin pustule|Pustular lesion|Pustula|Skin pustules SNOMEDCT_US:285305004|SNOMEDCT_US:271760008|MEDDRA:10037578|SNOMEDCT_US:103605005|UMLS:C0241157|SNOMEDCT_US:47002008|UMLS:C0542346 sebastiankohler 2010-06-18T02:03:24Z owl:Class HP:0010028 biolink:NamedThing Bullet-shaped 1st metacarpal The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped"). tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped 1st long bone of hand UMLS:C4024096 doelkens 2009-05-27T04:24:30Z human_phenotype owl:Class HP:0010009 biolink:NamedThing Abnormality of the 1st metacarpal A structural anomaly of the first metacarpal. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the 1st long bone of hand UMLS:C4024114 In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. doelkens 2009-05-27T03:35:21Z human_phenotype owl:Class HP:0033543 biolink:NamedThing Nicotine addiction Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences. tmpxe7fu0cj_hp_relaxed.owl Nicotine dependence 2021-01-21 12:43:36+00:00 peter owl:Class HP:0032106 biolink:NamedThing Conjunctival icterus Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease. tmpxe7fu0cj_hp_relaxed.owl Scleral icterus|Yellow conjunctiva|Yellow sclera|Yellowing of the whites of the eyes 2018-11-17 13:40:31+00:00 peter owl:Class HP:0004696 biolink:NamedThing Talipes cavus equinovarus tmpxe7fu0cj_hp_relaxed.owl UMLS:C1832342 human_phenotype owl:Class HP:0001762 biolink:NamedThing Talipes equinovarus Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. tmpxe7fu0cj_hp_relaxed.owl Pes equinus|Foot, talipes equinovarus|Club foot|Club feet|Equinovarus|Clubbing of feet|Pes equinovarus|Talipes varus|Clubfoot|Clubfeet SNOMEDCT_US:249808002|SNOMEDCT_US:397932003|UMLS:C0009081|MEDDRA:10043106|MSH:D003025|Fyler:4171 Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. owl:Class HP:0001032 biolink:NamedThing Absent distal interphalangeal creases Absence of the distal interphalangeal flexion creases of the fingers. tmpxe7fu0cj_hp_relaxed.owl Aplasia of the distal interphalangeal creases|Distal finger flexion creases absent|Absence of skin creases over distal interphalangeal joints UMLS:C1861349 human_phenotype owl:Class HP:0006109 biolink:NamedThing Absent phalangeal crease Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers). tmpxe7fu0cj_hp_relaxed.owl Aplasia of the interphalangeal creases|Absent interphalangeal creases UMLS:C1862479|UMLS:C4020821 HP:0006031 human_phenotype owl:Class UBERON:0001032 biolink:NamedThing sensory system Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information. tmpxe7fu0cj_hp_relaxed.owl sensory systems|sense organs|sensory subsystem|sense organs set|organa sensuum|set of sense organs|sense organ subsystem|sensory organ system FBbt:00007692|MIAA:0000031|FMA:75259|EFO:0000805|NLXANAT:090816|ZFA:0000282|MA:0002442|BAMS:SEN|Wikipedia:Sensory_system|EMAPA:16192|AAO:0000555|MAT:0000031|XAO:0003194|BILA:0000099|TAO:0000282|VHOG:0001674|EHDAA2:0003094 http://upload.wikimedia.org/wikipedia/commons/c/c0/Gray722.png uberon owl:Class An early step in the evolution of neural crest, therefore, may have been the origin of a specific dorsal neural cell population contributing to sensory processing; this would predate the divergence of the amphioxus and vertebrate lineages.[well established][VHOG] note the distinct between entire sensory system and individual system. this reconciles is_a and part_of distinctions between ssAOs CHEBI:17650 biolink:NamedThing cortisol A 17alpha-hydroxy-C21-steroid that is pregn-4-ene substituted by oxo groups at positions 3 and 20 and hydroxy groups at positions 11, 17 and 21. Cortisol is a corticosteroid hormone or glucocorticoid produced by zona fasciculata of the adrenal cortex, which is a part of the adrenal gland. It is usually referred to as the "stress hormone" as it is involved in response to stress and anxiety, controlled by corticotropin-releasing hormone (CRH). It increases blood pressure and blood sugar, and reduces immune responses tmpxe7fu0cj_hp_relaxed.owl 11beta,17alpha,21-Trihydroxy-4-pregnene-3,20-dione|hydrocortisone|11beta-hydrocortisone|Reichstein's substance M|(11beta)-11,17,21-trihydroxypregn-4-ene-3,20-dione|hidrocortisona|4-pregnen-11beta,17alpha,21-triol-3,20-dione|11beta,17,21-trihydroxypregn-4-ene-3,20-dione|Cortisol|hydrocortisonum|Hydrocortisone|cortisol|17-hydroxycorticosterone|11beta,17alpha,21-trihydroxy-4-pregnene-3,20-dione|Kendall's compound F 0 C21H30O5 InChI=1S/C21H30O5/c1-19-7-5-13(23)9-12(19)3-4-14-15-6-8-21(26,17(25)11-22)20(15,2)10-16(24)18(14)19/h9,14-16,18,22,24,26H,3-8,10-11H2,1-2H3/t14-,15-,16-,18+,19-,20-,21-/m0/s1 JYGXADMDTFJGBT-VWUMJDOOSA-N 362.45990 362.20932 [H][C@@]12CCC3=CC(=O)CC[C@]3(C)[C@@]1([H])[C@@H](O)C[C@@]1(C)[C@@]2([H])CC[C@]1(O)C(=O)CO Drug_Central:1388|Beilstein:1354819|LINCS:LSM-5980|Wikipedia:Hydrocortisone|DrugBank:DB00741|KEGG:D00088|Patent:US2602769|KEGG:C00735|PMID:2268561|PMID:10438974|PDBeChem:HCY|LIPID_MAPS_instance:LMST02030001|CAS:50-23-7 CHEBI:58221|CHEBI:3893|CHEBI:24633|CHEBI:14023 chebi_ontology owl:Class CHEBI:35346 biolink:NamedThing 11beta-hydroxy steroid Any 11-hydroxy steroid in which the hydroxy group at position 11 has beta- configuration. tmpxe7fu0cj_hp_relaxed.owl an 11beta-hydroxysteroid|11beta-hydroxy steroids|11beta-Hydroxysteroid|11beta-hydroxysteroids 0 C19H31OR 275.450 275.23749 C12(CCCCC1CCC3C2[C@H](CC4(C3CCC4*)C)O)C KEGG:C01058 CHEBI:13774|CHEBI:738|CHEBI:19134 chebi_ontology owl:Class GO:0070094 biolink:NamedThing positive regulation of glucagon secretion Any process that activates or increases the frequency, rate or extent of the regulated release of glucagon. tmpxe7fu0cj_hp_relaxed.owl up regulation of glucagon secretion|up-regulation of glucagon secretion|activation of glucagon secretion|upregulation of glucagon secretion|stimulation of glucagon secretion biological_process owl:Class GO:0150107 biolink:NamedThing positive regulation of protein localization to cell-cell junction Any process that activates or increases the frequency, rate or extent of protein localization to cell-cell junction. tmpxe7fu0cj_hp_relaxed.owl bc 2019-06-11T11:23:58Z biological_process owl:Class UBERON:0037191 biolink:NamedThing wall of membranous labyrinth tmpxe7fu0cj_hp_relaxed.owl membranous labyrinth wall FMA:79837 uberon owl:Class HP:0010517 biolink:NamedThing Ectopic thymus tissue The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend. tmpxe7fu0cj_hp_relaxed.owl Abnormal thymus position UMLS:C4023795 peter 2009-09-19T04:30:35Z human_phenotype owl:Class HP:0000777 biolink:NamedThing Abnormality of the thymus Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the thymus UMLS:C0685891|SNOMEDCT_US:93297002|UMLS:C0262650 owl:Class HP:0033778 biolink:NamedThing Leung cusp An additional cusp located in the middle of the occlusal surface. tmpxe7fu0cj_hp_relaxed.owl 2021-05-07 09:59:19+00:00 A Leung cusp is present on premolars only. In radiographs, a pulp extension may be seen inside the cusp. peter owl:Class HP:0033777 biolink:NamedThing Supernumerary cusp Additional cusps of a dental crown. tmpxe7fu0cj_hp_relaxed.owl Extra cusp|Additional cusp 2021-05-07 09:52:32+00:00 The crown is the part of the tooth that is visible in the oral cavity. Supernumerary cusps can occur on any tooth with cusps. Canines possess a single cusp, premolars two (bicuspid), and molars three to five cusps. Supernumerary cusps are frequently seen in patients with other dental anomalies. Prevalence varies by geographical region. A tubercle on the lingual surface of the maxillary first permanent molar is sometimes referred to as a Carabelli cusp. A supernumerary cusp on the lingual or palatal side of anterior teeth is called Talon cusp, and an additional cusp on the occlusal surface of a premolar is called Leung cusp. peter owl:Class HP:0010029 biolink:NamedThing Curved 1st metacarpal A deviation from the normal straight shape of the first metacarpal. tmpxe7fu0cj_hp_relaxed.owl Curved 1st long bone of hand UMLS:C4024095 doelkens 2009-05-27T04:24:30Z human_phenotype owl:Class GO:0021545 biolink:NamedThing cranial nerve development The process whose specific outcome is the progression of the cranial nerves over time, from its formation to the mature structure. The cranial nerves are composed of twelve pairs of nerves that emanate from the nervous tissue of the hindbrain. These nerves are sensory, motor, or mixed in nature, and provide the motor and general sensory innervation of the head, neck and viscera. They mediate vision, hearing, olfaction and taste and carry the parasympathetic innervation of the autonomic ganglia that control visceral functions. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0021675 biolink:NamedThing nerve development The process whose specific outcome is the progression of a nerve over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0044267 biolink:NamedThing cellular protein metabolic process The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. tmpxe7fu0cj_hp_relaxed.owl cellular protein metabolism biological_process owl:Class GO:0072678 biolink:NamedThing T cell migration The movement of a T cell within or between different tissues and organs of the body. tmpxe7fu0cj_hp_relaxed.owl T-cell migration|T-lymphocyte migration|T lymphocyte migration mah 2011-02-22T03:40:40Z biological_process owl:Class GO:0004888 biolink:NamedThing transmembrane signaling receptor activity Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. tmpxe7fu0cj_hp_relaxed.owl transmembrane receptor activity|transmembrane signalling receptor activity Reactome:R-HSA-193672 This term includes intracellular membrane receptors, e.g. IP3 triggered release of Ca2+ from intracellular stores. GO:0004926|GO:0099600 molecular_function owl:Class UBERON:0002224 biolink:NamedThing thoracic cavity The part of the coelemic cavity lumen that is enclosed by the walls of the thorax. tmpxe7fu0cj_hp_relaxed.owl cavitas thoracis|space of thoracic compartment|thoracic lumen|chest cavity|cavity of chest|pectoral cavity|cavity of thorax EMAPA:36497|SCTID:243949006|OpenCyc:Mx4rmvyleLfEEduAAAACs6hRXg|OpenCyc:Mx4rvhU_TpwpEbGdrcN5Y29ycA|GAID:93|Wikipedia:Thoracic_cavity|MESH:A01.911.800|FMA:7565|UMLS:C0230139|MA:0000032|NCIT:C12905 http://upload.wikimedia.org/wikipedia/commons/c/ce/Gray846.png|http://upload.wikimedia.org/wikipedia/commons/e/ee/Scheme_body_cavities-en.svg uberon owl:Class In many species, the diaphragm separates thoracic and abdominal cavities GO:0099513 biolink:NamedThing polymeric cytoskeletal fiber A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:0099512 biolink:NamedThing supramolecular fiber A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. tmpxe7fu0cj_hp_relaxed.owl fibril GO:0043205 cellular_component owl:Class CHEBI:27216 biolink:NamedThing urate(2-) tmpxe7fu0cj_hp_relaxed.owl urate dianion -2 C5H2N4O3 166.09454 166.01269 chebi_ontology owl:Class CHEBI:46818 biolink:NamedThing urate anion An organic anion obtained by removal of at least one proton from any uric acid. tmpxe7fu0cj_hp_relaxed.owl urate anion chebi_ontology owl:Class HP:3000022 biolink:NamedThing Abnormality of cartilage of external ear An abnormality of a cartilage of external ear. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073231 vasilevs 2015-08-07T00:15:54Z human_phenotype owl:Class HP:0002763 biolink:NamedThing Abnormal cartilage morphology Any morphological abnormality of cartilage. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of cartilage|Abnormality of cartilage morphology UMLS:C4025680 HP:0410007 owl:Class UBERON:0005498 biolink:NamedThing primitive heart tube Multi-tissue structure that arises from the heart rudiment and will become the heart tube. tmpxe7fu0cj_hp_relaxed.owl early primitive heart tube|primitive heart tube EHDAA:436|ZFA:0000149|Wikipedia:Primitive_heart_tube|SCTID:361522004|EHDAA:424|TAO:0000149|EHDAA2:0001512|FMA:321916|EMAPA:16215 uberon owl:Class UBERON:0011976 biolink:NamedThing epiphysis of distal phalanx of pes An epiphysis that is part of a distal phalanx of pes. tmpxe7fu0cj_hp_relaxed.owl epiphysis of distal phalanx of toe uberon owl:Class HP:0002833 biolink:NamedThing Cystic angiomatosis of bone Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping. tmpxe7fu0cj_hp_relaxed.owl Lytic cystic lesions in appendicular bones UMLS:C4021749 The term Cystic angiomatosis is used to describe a disease entity that includes cystic angiomatosis of bone and of visceral organs. human_phenotype owl:Class HP:0012062 biolink:NamedThing Bone cyst A fluid filled cavity that develops with a bone. tmpxe7fu0cj_hp_relaxed.owl Bone cysts|Bone cyst SNOMEDCT_US:203465002|UMLS:C0005937|SNOMEDCT_US:112643007|SNOMEDCT_US:203467005|MSH:D001845|SNOMEDCT_US:66954000 Many bone cysts are asymptomatic. However, larger cysts can make the bone more susceptible to fracture. hecht 2012-08-03T02:35:39Z HP:0100696 human_phenotype owl:Class HP:0045038 biolink:NamedThing Gastric lymphoma Lymphoma that originates in the stomach itself. tmpxe7fu0cj_hp_relaxed.owl Primary gastric lymphoma MSH:C535648|SNOMEDCT_US:276811008|UMLS:C0349532 An uncommon condition, that accounts for less than 15% of gastric malignancies and about 2% of all lymphomas. HPO:skoehler owl:Class HP:0002665 biolink:NamedThing Lymphoma A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. tmpxe7fu0cj_hp_relaxed.owl Cancer of lymphatic system SNOMEDCT_US:115244002|SNOMEDCT_US:21964009|NCIT:C7065|MSH:D008223|SNOMEDCT_US:188676008|SNOMEDCT_US:118600007|UMLS:C0024299 human_phenotype owl:Class HP:0006566 biolink:NamedThing Neonatal cholestatic liver disease tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859162 human_phenotype owl:Class HP:0002611 biolink:NamedThing Cholestatic liver disease tmpxe7fu0cj_hp_relaxed.owl UMLS:C0860204 human_phenotype owl:Class UBERON:0008434 biolink:NamedThing cervical vertebral arch A neural arch that is part of a cervical vertebra. tmpxe7fu0cj_hp_relaxed.owl arch of cervical vertebra FMA:23893 uberon owl:Class UBERON:0003458 biolink:NamedThing neck bone A bone that is part of a neck [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bone of neck (volume)|neck bone organ|neck (volume) bone organ|bone organ of neck (volume)|neck (volume) bone|bone of neck|bone organ of neck EMAPA:37246|MA:0000584|OpenCyc:Mx4rvnpJSJwpEbGdrcN5Y29ycA uberon owl:Class UBERON:0009497 biolink:NamedThing epithelium of foregut-midgut junction An epithelium that is part of a foregut-midgut junction. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000573|EMAPA:16564 uberon owl:Class UBERON:0019200 biolink:NamedThing skin of anterior chest Zone of skin that is part of the anterior region of the chest. tmpxe7fu0cj_hp_relaxed.owl skin of anterior part of thorax|skin of ventral chest|ventral chest skin|anterior chest skin FMA:10461 uberon owl:Class HP:0009165 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of the outermost bone of pinky finger|Speckled calcifications in end part of the outermost bone of pinkie finger|Speckled calcifications in end part of the outermost bone of little finger UMLS:C4024563 peter 2008-12-29T02:07:42Z human_phenotype owl:Class HP:0010255 biolink:NamedThing Stippling of the epiphyses of the distal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the outermost hand bones UMLS:C4023945 doelkens 2009-07-06T04:23:06Z human_phenotype owl:Class GO:0033046 biolink:NamedThing negative regulation of sister chromatid segregation Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0033045 biolink:NamedThing regulation of sister chromatid segregation Any process that modulates the frequency, rate or extent of sister chromatid segregation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0011106 biolink:NamedThing Hypovolemia An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. tmpxe7fu0cj_hp_relaxed.owl Depleted blood volume MSH:D020896|SNOMEDCT_US:28560003|UMLS:C0546884 peter 2011-06-07T11:18:54Z human_phenotype owl:Class HP:0011104 biolink:NamedThing Abnormality of blood volume homeostasis An abnormality in the amount of volume occupied by intravascular blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023537 peter 2011-06-07T11:16:33Z human_phenotype owl:Class PATO:0001581 biolink:NamedThing decreased contractility A contractility which is relatively low. tmpxe7fu0cj_hp_relaxed.owl low contractility quality owl:Class UBERON:0004504 biolink:NamedThing skeletal muscle tissue of mylohyoid A portion of skeletal muscle tissue that is part of a mylohyoid [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:261878 uberon owl:Class GO:0009308 biolink:NamedThing amine metabolic process The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. tmpxe7fu0cj_hp_relaxed.owl amine metabolism biological_process owl:Class HP:0007722 biolink:NamedThing Retinal pigment epithelial atrophy Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1840457 HP:0008017|HP:0007698 owl:Class HP:0001105 biolink:NamedThing Retinal atrophy Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. tmpxe7fu0cj_hp_relaxed.owl MSH:D012162|UMLS:C0035304|SNOMEDCT_US:95695004|UMLS:C0521694|SNOMEDCT_US:405722004 human_phenotype owl:Class HP:0001308 biolink:NamedThing Tongue fasciculations Fasciculations or fibrillation affecting the tongue muscle. tmpxe7fu0cj_hp_relaxed.owl Tongue twitching|Lingual fasciculations|Lingual twitching|Lingual fibrillations|Tongue fasciculation|Tongue fasciculations/fibrillations|Twitching of the tongue MSH:D005207|SNOMEDCT_US:249878001|UMLS:C0239548 HP:0003727 human_phenotype owl:Class HP:0002795 biolink:NamedThing Abnormal respiratory system physiology tmpxe7fu0cj_hp_relaxed.owl Abnormal respiration|Functional respiratory abnormality|Respiratory problem|Impaired pulmonary function Fyler:4200|UMLS:C4025677 HP:0005952 owl:Class HP:0006677 biolink:NamedThing Prolonged QRS complex Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. tmpxe7fu0cj_hp_relaxed.owl Prolonged QRS complex on EKG SNOMEDCT_US:991002|UMLS:C0235475 human_phenotype owl:Class HP:0025074 biolink:NamedThing Abnormal QRS complex An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram. tmpxe7fu0cj_hp_relaxed.owl 2016-09-26 10:46:17+00:00 HPO:probinson owl:Class HP:0032730 biolink:NamedThing Focal impaired awareness myoclonic seizure A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011166 biolink:NamedThing Focal myoclonic seizure A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. tmpxe7fu0cj_hp_relaxed.owl Focal myoclonic seizures|Segmental myoclonic seizures|Segmental myoclonic seizure|Local myoclonic seizures|Partial myoclonic seizure|Partial myoclonic seizures|Localised myoclonic seizure|Localized myoclonic seizure UMLS:C4023501 peter 2011-10-18T02:34:14Z HP:0025191 owl:Class HP:0030493 biolink:NamedThing Abnormality of foveal pigmentation An anomaly of the pigmentation in the fovea centralis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072981 owl:Class HP:0009779 biolink:NamedThing 3-4 toe syndactyly Syndactyly with fusion of toes three and four. tmpxe7fu0cj_hp_relaxed.owl syndactyly of 3rd - 4th toes|Webbed 3rd-4th toes UMLS:C1834062 peter 2009-02-03T04:43:16Z HP:0004708 owl:Class UBERON:0001760 biolink:NamedThing frontal sinus The frontal sinus occupies the dorsal part of the skull medial to the orbit. It overlaps cranial and nasal cavities and is often referred to as the conchofrontal sinus. tmpxe7fu0cj_hp_relaxed.owl cavity of frontal bone|sinus frontales OpenCyc:Mx4rvqMUR5wpEbGdrcN5Y29ycA|MA:0001793|NCIT:C12277|GAID:357|FMA:57417|MESH:D005626|UMLS:C0016734 Nnh:front.svg uberon owl:Class A unique feature in the horse is that the frontal sinus communicates with the caudal maxillary sinus via the frontomaxillary opening UBERON:0001825 biolink:NamedThing paranasal sinus The paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity. tmpxe7fu0cj_hp_relaxed.owl nasal sinus|sinus NCIT:C12763|GAID:355|EV:0100038|FMA:59679|MA:0000431|MESH:D010256|EMAPA:35662|CALOHA:TS-2082|EHDAA:6489|UMLS:C0030471 Nnh:front.svg uberon owl:Class Arise as epithelial lined diverticula of the lining of the nasal cavity. The extent of sinus development varies with species, most of the development occurs postnatally HP:0033056 biolink:NamedThing Impaired ability to organize Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine. tmpxe7fu0cj_hp_relaxed.owl Impaired ability to organise peter owl:Class HP:0030950 biolink:NamedThing Pulmonary venous hypertension An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension. tmpxe7fu0cj_hp_relaxed.owl 2017-01-13 21:56:41+00:00 Common causes of pulmonary venous hypertension are obstruction to left ventricular (LV) inflow, LV systolic dysfunction, severe mitral regurgitation, and acute pulmonary and systemic volume overload. As the pulmonary venous pressure nears 22 mm Hg, interstitial pulmonmary edema may develop. As it reaches 25 mm Hg, alveolar edema may ensue. robinp owl:Class HP:0030875 biolink:NamedThing Abnormality of pulmonary circulation A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart. tmpxe7fu0cj_hp_relaxed.owl Abnormality of respiratory circulation|Abnormal pulmonary circulation UMLS:C4280730 owl:Class HP:0009530 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the innermost bone of the index finger UMLS:C4024306 doelkens 2009-01-16T01:12:34Z human_phenotype owl:Class HP:0032891 biolink:NamedThing Focal aware motor seizure with version A focal motor seizure with version characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal motor aware seizure with version peter owl:Class HP:0011175 biolink:NamedThing Focal motor seizure with version A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl Versive seizure|Versive seizures MSH:D020938|UMLS:C0422846|SNOMEDCT_US:246530009 hecht 2011-11-19T10:14:54Z human_phenotype owl:Class GO:0002607 biolink:NamedThing regulation of myeloid dendritic cell antigen processing and presentation Any process that modulates the frequency, rate, or extent of myeloid dendritic cell antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0002604 biolink:NamedThing regulation of dendritic cell antigen processing and presentation Any process that modulates the frequency, rate, or extent of dendritic cell antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100132 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the innermost bone of the 2nd toe UMLS:C4022289 doelkens 2010-06-24T10:06:29Z human_phenotype owl:Class UBERON:0006297 biolink:NamedThing sublingual gland primordium A primordium that has the potential to develop into a sublingual gland. tmpxe7fu0cj_hp_relaxed.owl EHDAA:7989|EMAPA:17752|EHDAA2:0001935 uberon owl:Class CHEBI:57977 biolink:NamedThing bilirubin(2-) A dicarboxylic acid dianion obtained by deprotonation of the two carboxy groups of bilirubin; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl bilirubin IXalpha|bilirubin dianion|2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoate -2 C33H34N4O6 InChI=1S/C33H36N4O6/c1-7-20-19(6)32(42)37-27(20)14-25-18(5)23(10-12-31(40)41)29(35-25)15-28-22(9-11-30(38)39)17(4)24(34-28)13-26-16(3)21(8-2)33(43)36-26/h7-8,13-14,34-35H,1-2,9-12,15H2,3-6H3,(H,36,43)(H,37,42)(H,38,39)(H,40,41)/p-2/b26-13-,27-14- BPYKTIZUTYGOLE-IFADSCNNSA-L 582.64630 582.24893 CC1=C(C=C)\C(NC1=O)=C\c1[nH]c(Cc2[nH]c(\C=C3NC(=O)C(C=C)=C/3C)c(C)c2CCC([O-])=O)c(CCC([O-])=O)c1C Beilstein:4083310 chebi_ontology owl:Class CHEBI:59252 biolink:NamedThing linear tetrapyrrole anion An organic anion arising from deprotonation of a acyclic tetrapyrrole compound. tmpxe7fu0cj_hp_relaxed.owl acyclic tetrapyrrole anion|linear tetrapyrrole anions|acyclic tetrapyrrole anions chebi_ontology owl:Class HP:0007366 biolink:NamedThing Atrophy/Degeneration affecting the brainstem tmpxe7fu0cj_hp_relaxed.owl Brainstem atrophy UMLS:C4024900 peter 2008-04-01T10:22:00Z owl:Class UBERON:0012080 biolink:NamedThing patella cartilage element A cartilaginous condensation that has the potential to develop into a patella. tmpxe7fu0cj_hp_relaxed.owl EMAPA:19140 Note some sources have this as intramembranous uberon owl:Class HP:0004889 biolink:NamedThing Intermittent episodes of respiratory insufficiency due to muscle weakness tmpxe7fu0cj_hp_relaxed.owl UMLS:C3807025 human_phenotype owl:Class HP:0002747 biolink:NamedThing Respiratory insufficiency due to muscle weakness tmpxe7fu0cj_hp_relaxed.owl Decreased lung function due to weak breathing muscles|Respiratory failure due to muscle weakness|Respiratory muscle weakness|Respiratory distress due to muscle weakness|Decreased respiratory function due to muscle weakness UMLS:C3806467 HP:0004882|HP:0004888 human_phenotype owl:Class UBERON:0000400 biolink:NamedThing jejunal epithelium An epithelium that is part of a jejunum. tmpxe7fu0cj_hp_relaxed.owl epithelium of jejunum MA:0003215|EMAPA:18668|FMA:17232|CALOHA:TS-0494|BTO:0001743 uberon owl:Class UBERON:0013636 biolink:NamedThing epithelium of intestinal villus An epithelium that is part of a intestinal villus. tmpxe7fu0cj_hp_relaxed.owl villous epithelium|villus epithelium|intestinal villus epithelium FMA:63587 uberon owl:Class HP:0033068 biolink:NamedThing Medication crystalluria A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0020074 biolink:NamedThing Crystalluria The presence of crystals in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-02-25 13:07:52+00:00 Crystalluria is a marker of urine supersaturation with substances deriving from metabolic disorders, inherited diseases or drugs. The investigation of crystalluria must be done according to a protocol which includes the delivery to the laboratory of a proper urine sample, the use of a microscope equipped with polarized light, the accurate knowledge of urine pH, and a comprehensive examination of the crystals, which is based on their identification, quantification and size measurement. For unusual crystals, infrared spectroscopy may also be needed. The main urinary crystalline categories include: calcium oxalates, calcium phosphates, uric acids and urates, struvite, aminoacids (cystine), purines (2,8-dihydroxyadenine and xanthine) and drugs (e.g. sulfamethoxazole, amoxycillin, ceftriaxone, atazanavir). robinp owl:Class UBERON:0003296 biolink:NamedThing gland of diencephalon Any gland that is part of the diencephalon. Examples: pineal gland, neurohypophysis. tmpxe7fu0cj_hp_relaxed.owl diencephalon gland|interbrain gland EHDAA2:0000395|VHOG:0000653|EMAPA:16897|EHDAA:4475 uberon owl:Class GO:0014874 biolink:NamedThing response to stimulus involved in regulation of muscle adaptation Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. This occurs as part of the regulation of muscle adaptation. tmpxe7fu0cj_hp_relaxed.owl response to stimulus involved in regulation of muscle plasticity biological_process owl:Class GO:1903541 biolink:NamedThing regulation of exosomal secretion Any process that modulates the frequency, rate or extent of exosomal secretion. tmpxe7fu0cj_hp_relaxed.owl regulation of extracellular vesicular exosome secretion|regulation of secretion of exosome|regulation of exosomal secretory pathway|regulation of exosomal protein secretion pga 2014-10-14T11:38:52Z biological_process owl:Class HP:0009305 biolink:NamedThing Distal/middle symphalangism of 4th finger Fusion of the terminal/distal and middle phalanges of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Symphalangism of the distal and middle phalanges of the 4th finger|Fused outermost and middle bones of ring finger UMLS:C4021495 doelkens 2009-01-08T04:41:33Z HP:0009474|HP:0009475 human_phenotype owl:Class HP:0009308 biolink:NamedThing Symphalangism of middle phalanx of 4th finger Fusion of the middle phalanx of the 4th finger with another bone. tmpxe7fu0cj_hp_relaxed.owl Fused middle bone of ring finger UMLS:C4024453 doelkens 2009-01-08T04:59:22Z human_phenotype owl:Class HP:0005567 biolink:NamedThing Renal magnesium wasting High urine magnesium in the presence of hypomagnesemia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1835171|MSH:C537152 human_phenotype owl:Class HP:0012607 biolink:NamedThing Abnormal urine magnesium concentration An abnormal concentration of magnesium the urine. tmpxe7fu0cj_hp_relaxed.owl Abnormal urine magnesium concentration UMLS:C4022823 peter 2014-01-17T11:37:50Z owl:Class UBERON:0001484 biolink:NamedThing articular capsule An articular capsule (or joint capsule) is an envelope surrounding a synovial joint. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl joint capsule|joint fibrous capsule|capsula articularis|fibrous capsule of joint|capsulae articulares UMLS:C0206207|FMA:34836|galen:JointCapsule|Wikipedia:Articular_capsule|EMAPA:37621|MESH:D017746|SCTID:182238002|NCIT:C32259|NCIT:C84388|GAID:263|MA:0001519 http://upload.wikimedia.org/wikipedia/commons/4/4a/Gray299.png|http://upload.wikimedia.org/wikipedia/commons/1/19/Joint.png uberon owl:Class check ncita CHEBI:35274 biolink:NamedThing ammonium ion derivative A derivative of ammonium, NH4(+), in which one (or more) of the hydrogens bonded to the nitrogen have been replaced with univalent organyl groups. The substituting carbon of the organyl group must not itself be directly attached to a heteroatom (thereby excluding protonated amides, hemiaminals, etc). tmpxe7fu0cj_hp_relaxed.owl azanium ion derivative|ammonium ion derivatives|azanium ion derivatives chebi_ontology owl:Class GO:0071674 biolink:NamedThing mononuclear cell migration The movement of a mononuclear cell within or between different tissues and organs of the body. tmpxe7fu0cj_hp_relaxed.owl mah 2010-02-16T02:11:00Z biological_process owl:Class GO:1903561 biolink:NamedThing extracellular vesicle Any vesicle that is part of the extracellular region. tmpxe7fu0cj_hp_relaxed.owl microparticle jl 2014-10-22T14:26:11Z cellular_component owl:Class GO:0065010 biolink:NamedThing extracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. tmpxe7fu0cj_hp_relaxed.owl extracellular membrane-enclosed organelle cellular_component owl:Class CL:0002035 biolink:NamedThing Slamf1-negative multipotent progenitor cell A hematopoietic progenitor that has restricted self-renewal capability. Cell is Kit-positive, Ly6-positive, CD150-negative and Flt3-negative. tmpxe7fu0cj_hp_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-01-08T11:16:33Z cell owl:Class PATO:0002141 biolink:NamedThing irregular density A density quality which lacks pattern. tmpxe7fu0cj_hp_relaxed.owl 2009-10-28T01:57:53Z quality owl:Class PATO:0001019 biolink:NamedThing mass density A physical quality which inheres in a bearer by virtue of some influence is exerted by the bearer's mass per unit size. tmpxe7fu0cj_hp_relaxed.owl density quality owl:Class CHEBI:17376 biolink:NamedThing cystine A sulfur-containing amino acid obtained by the oxidation of two cysteine molecules which are then linked via a disulfide bond. tmpxe7fu0cj_hp_relaxed.owl Cystin|cistina|cystine|3,3'-dithiobis(2-aminopropanoic acid)|Dicysteine|3,3'-disulfanediylbis(2-aminopropanoic acid)|Cystine|Zystin|alpha-Diamino-beta-dithiolactic acid 0 C6H12N2O4S2 InChI=1S/C6H12N2O4S2/c7-3(5(9)10)1-13-14-2-4(8)6(11)12/h3-4H,1-2,7-8H2,(H,9,10)(H,11,12) LEVWYRKDKASIDU-UHFFFAOYSA-N 240.30256 240.02385 NC(CSSCC(N)C(O)=O)C(O)=O Gmelin:83347|Wikipedia:Cystine|Reaxys:1728091|PMID:24525029|PMID:24525030|PMID:24327171|Beilstein:1728091|KEGG:C01420|CAS:923-32-0|PMID:18608550 CHEBI:4052|CHEBI:23513|CHEBI:14062 chebi_ontology owl:Class CHEBI:17891 biolink:NamedThing donor A molecular entity that can transfer ("donate") an electron, a pair of electrons, an atom or a group to another molecular entity. tmpxe7fu0cj_hp_relaxed.owl donneur|Donor|Donator KEGG:C01351 CHEBI:4697|CHEBI:14202 chebi_ontology owl:Class HP:0033907 biolink:NamedThing Renal arteriole intima/media arteriolosclerosis Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 22:52:55+00:00 peter owl:Class HP:0033892 biolink:NamedThing Abnormal renal arteriole intima/media morphology Any structural anomaly located in the inner or middle layer of the arterioles of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 22:13:30+00:00 peter owl:Class UBERON:0003330 biolink:NamedThing submucosa of rectum The submucous layer of the wall of the rectum. tmpxe7fu0cj_hp_relaxed.owl rectum submucosa|tela submucosa recti|rectal submucosa EMAPA:27083|FMA:15034|BTO:0002114 uberon owl:Class GO:0010566 biolink:NamedThing regulation of ketone biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a ketone, carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0031326 biolink:NamedThing regulation of cellular biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl regulation of cellular formation|regulation of cellular synthesis|regulation of cellular anabolism|regulation of cellular biosynthesis biological_process owl:Class UBERON:0001277 biolink:NamedThing intestinal epithelium Epithelial layer that lines the intestine. tmpxe7fu0cj_hp_relaxed.owl bowel epithelium|intestine epithelial tissue|epithelial tissue of bowel|villous epithelium|bowel epithelial tissue|epithelial tissue of intestine|epithelium of intestine|intestine epithelium|epithelium of bowel UMLS:C0226890|ZFA:0005124|FMA:17229|NCIT:C49240|EMAPA:32873|TAO:0005124|MA:0001536|BTO:0000781 uberon owl:Class Simple columnar epithelium that lines the intestine, sometimes pseudostratified, with absorptive brush-border cells and mucous goblet cells clearly visible. Crosnier et al. 2005[TAO] HP:0025703 biolink:NamedThing Type 2 schizencephaly A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other. tmpxe7fu0cj_hp_relaxed.owl This is a milder form of schizecephaly that can be asymptomatic or diagnosed in adult patients. peterrobinson owl:Class HP:0010636 biolink:NamedThing Schizencephaly The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0266484|SNOMEDCT_US:253159001|MSH:D065707|SNOMEDCT_US:38353004 peter 2009-12-06T08:05:54Z owl:Class UBERON:0000179 biolink:NamedThing haemolymphatic fluid Circulating fluid that is part of the hemolymphoid system. Blood, lymph, interstitial fluid or its analogs. tmpxe7fu0cj_hp_relaxed.owl blood or blood analog|circulating fluid CARO:0000081 cjm 2009-04-08T04:38:19Z uberon owl:Class HP:0011556 biolink:NamedThing Double inlet right ventricle The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic. tmpxe7fu0cj_hp_relaxed.owl EPCC:01.04.03|UMLS:C0344621|SNOMEDCT_US:253282005|ICD-10:Q20.4 peter 2012-04-07T11:57:14Z human_phenotype owl:Class HP:0011554 biolink:NamedThing Double inlet atrioventricular connection The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. tmpxe7fu0cj_hp_relaxed.owl Double inlet atrioventricular connexion ICD-10:Q20.4|UMLS:C4023302|EPCC:01.01.14 peter 2012-04-07T11:49:32Z human_phenotype owl:Class HP:0004289 biolink:NamedThing Sclerotic foci in hand bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025367 human_phenotype owl:Class HP:0004281 biolink:NamedThing Irregular sclerosis of hand bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025373 human_phenotype owl:Class HP:0012271 biolink:NamedThing Episodic upper airway obstruction Intermittent episodes of increased resistance to the passage of air in the upper airway. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022978 peter 2013-04-07T02:08:33Z human_phenotype owl:Class HP:0002781 biolink:NamedThing Upper airway obstruction Increased resistance to the passage of air in the upper airway. tmpxe7fu0cj_hp_relaxed.owl Upper airway obstruction UMLS:C0740852 human_phenotype owl:Class GO:0045651 biolink:NamedThing positive regulation of macrophage differentiation Any process that activates or increases the frequency, rate or extent of macrophage differentiation. tmpxe7fu0cj_hp_relaxed.owl activation of macrophage differentiation|up regulation of macrophage differentiation|stimulation of macrophage differentiation|upregulation of macrophage differentiation|up-regulation of macrophage differentiation biological_process owl:Class GO:0002763 biolink:NamedThing positive regulation of myeloid leukocyte differentiation Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl up regulation of myeloid leukocyte differentiation|activation of myeloid leukocyte differentiation|stimulation of myeloid leukocyte differentiation|upregulation of myeloid leukocyte differentiation|up-regulation of myeloid leukocyte differentiation biological_process owl:Class HP:0011153 biolink:NamedThing Focal motor seizure A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl Localised motor seizures|Partial motor seizure|Partial motor seizures|Localised motor seizure|Focal motor seizures|Localized motor seizure|Segmental motor seizure|Localized motor seizures MSH:D020938|SNOMEDCT_US:128612007|UMLS:C0016399|SNOMEDCT_US:82401000 A motor onset seizure involves motor activity (movement) and may be due to either an increase or decrease in contraction in a muscle or group of muscles. Depending on the muscle groups involved and the way they are affected, the movement features of a motor onset seizure may be simple or more complex. peter 2011-10-18T02:33:17Z human_phenotype owl:Class HP:0020219 biolink:NamedThing Motor seizure A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. tmpxe7fu0cj_hp_relaxed.owl This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. robinp 2020-02-24 14:20:36+00:00 owl:Class PATO:0001899 biolink:NamedThing decreased circumference A circumference which is relatively low. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0001648 biolink:NamedThing circumference An 1-D extent quality which is equal to the length of the closed curve of a circle. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:0071888 biolink:NamedThing macrophage apoptotic process Any apoptotic process in a macrophage, a mononuclear phagocyte present in a variety of tissues. tmpxe7fu0cj_hp_relaxed.owl AICD|macrophage apoptosis|activation-induced cell death Note that a lymphocyte is a cell of the B cell, T cell, or natural killer cell lineage (CL:0000542). mah 2010-09-14T12:50:40Z biological_process owl:Class GO:0006915 biolink:NamedThing apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. tmpxe7fu0cj_hp_relaxed.owl apoptotic program|activation of apoptosis|apoptosis signaling|apoptosis activator activity|cell suicide|programmed cell death by apoptosis|apoptosis|type I programmed cell death|commitment to apoptosis|caspase-dependent programmed cell death|signaling (initiator) caspase activity|cellular suicide|apoptotic programmed cell death|apoptotic cell death|induction of apoptosis by p53|induction of apoptosis Wikipedia:Apoptosis GO:0008632|GO:0006917 biological_process owl:Class HP:0032079 biolink:NamedThing Medial degeneration Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections. tmpxe7fu0cj_hp_relaxed.owl 2018-10-14 14:47:59+00:00 peter owl:Class CL:0000040 biolink:NamedThing monoblast A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus. tmpxe7fu0cj_hp_relaxed.owl CFU-M|colony forming unit macrophage|monocyte stem cell|colony forming unit monocyte CALOHA:TS-1195|FMA:83553 Morphology: mononuclear cell, diameter 12-20 _M, non-granular, N/C ratio 3/1 - 4/1; markers: CD11b (shared with many other myeloid cells); location: Adult: bone marrow; fetal: liver, Yolk Sac; role or process: hematopoiesis, monocyte development; lineage: hematopoietic, myeloid. cell owl:Class CL:0000763 biolink:NamedThing myeloid cell A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. tmpxe7fu0cj_hp_relaxed.owl BTO:0001441|CALOHA:TS-0647 cell owl:Class HP:0001700 biolink:NamedThing Myocardial necrosis Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction). tmpxe7fu0cj_hp_relaxed.owl UMLS:C1442837|SNOMEDCT_US:251061000 human_phenotype owl:Class GO:0055013 biolink:NamedThing cardiac muscle cell development The process whose specific outcome is the progression of a cardiac muscle cell over time, from its formation to the mature state. tmpxe7fu0cj_hp_relaxed.owl heart muscle fiber development|cardiac muscle fiber development|cardiomyocyte cell development|cardiac muscle fibre development|heart muscle cell development GO:0048739 biological_process owl:Class GO:0055002 biolink:NamedThing striated muscle cell development The process whose specific outcome is the progression of a striated muscle cell over time, from its formation to the mature structure. Striated muscle cells contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class PATO:0000947 biolink:NamedThing elliptic A spheroid quality inhering in a bearer by virtue of the bearer's being oval with two axes of symmetry, as produced by a conical section. tmpxe7fu0cj_hp_relaxed.owl ellipse-shaped|elliptical|ovoid|ellipsoid|oval quality owl:Class UBERON:0004141 biolink:NamedThing heart tube An epithelial tube that will give rise to the mature heart. tmpxe7fu0cj_hp_relaxed.owl endocardial tube|embryonic heart tube|endocardial heart tube ZFA:0000360|TAO:0000360|AAO:0010411|EMAPA:32685|EFO:0003526|XAO:0000337|NCIT:C34161 uberon owl:Class the paired, longitudinal, endothelial-lined channels formed from the cardiogenic mesoderm in embryonic development; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube. GO:0007041 biolink:NamedThing lysosomal transport The directed movement of substances into, out of or within a lysosome. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0007034 biolink:NamedThing vacuolar transport The directed movement of substances into, out of or within a vacuole. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1901221 biolink:NamedThing positive regulation of cardiac chamber morphogenesis Any process that activates or increases the frequency, rate or extent of cardiac chamber morphogenesis. tmpxe7fu0cj_hp_relaxed.owl upregulation of cardiac chamber morphogenesis|up regulation of cardiac chamber morphogenesis|up-regulation of heart chamber morphogenesis|positive regulation of heart chamber morphogenesis|activation of cardiac chamber morphogenesis|up regulation of heart chamber morphogenesis|upregulation of heart chamber morphogenesis|activation of heart chamber morphogenesis|up-regulation of cardiac chamber morphogenesis rl 2012-08-06T17:59:42Z biological_process owl:Class GO:1901219 biolink:NamedThing regulation of cardiac chamber morphogenesis Any process that modulates the frequency, rate or extent of cardiac chamber morphogenesis. tmpxe7fu0cj_hp_relaxed.owl regulation of heart chamber morphogenesis rl 2012-08-06T17:59:11Z biological_process owl:Class HP:0008675 biolink:NamedThing Enlarged polycystic ovaries tmpxe7fu0cj_hp_relaxed.owl Enlarged ovaries with cysts UMLS:C4024641 human_phenotype owl:Class HP:0000147 biolink:NamedThing Polycystic ovaries tmpxe7fu0cj_hp_relaxed.owl Polycystic ovary disease|Sclerocystic ovaries|Polycystic ovary MSH:D011085|UMLS:C0032460|UMLS:C1136382|SNOMEDCT_US:69878008 HP:0008657|HP:0008644 human_phenotype owl:Class HP:0006486 biolink:NamedThing Abnormal dental root morphology An abnormality of the dental root. tmpxe7fu0cj_hp_relaxed.owl Abnormality of tooth root|Abnormality of the dental root|Dental root anomaly UMLS:C4025041 peter 2008-03-28T05:52:00Z owl:Class HP:0011322 biolink:NamedThing Right unilambdoid synostosis Premature synostosis of only the right lambdoid suture. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023414 peter 2012-02-25T01:14:34Z human_phenotype owl:Class HP:0011320 biolink:NamedThing Unilambdoid synostosis Premature synostosis of only one lambdoid suture. tmpxe7fu0cj_hp_relaxed.owl Unilateral lambdoid suture synostosis|Unilateral lambdoid craniosynostosis UMLS:C4021162 peter 2012-02-25T01:13:20Z owl:Class GO:0034654 biolink:NamedThing nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. tmpxe7fu0cj_hp_relaxed.owl nucleobase, nucleoside, nucleotide and nucleic acid synthesis|nucleobase, nucleoside, nucleotide and nucleic acid anabolism|nucleobase, nucleoside, nucleotide and nucleic acid biosynthesis|nucleobase, nucleoside, nucleotide and nucleic acid formation biological_process owl:Class UBERON:0017272 biolink:NamedThing lower primary premolar tooth tmpxe7fu0cj_hp_relaxed.owl mandibular primary premolar tooth|lower deciduous premolar tooth uberon owl:Class UBERON:0017269 biolink:NamedThing primary premolar tooth tmpxe7fu0cj_hp_relaxed.owl deciduous premolar tooth|primary bicuspid|primary premolar uberon owl:Class GO:0010615 biolink:NamedThing positive regulation of cardiac muscle adaptation Any process that increases the rate, extent or frequency of the process in which cardiac muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0010612 biolink:NamedThing regulation of cardiac muscle adaptation Any process that modulates the rate, extent or frequency of the process in which cardiac muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0005764 biolink:NamedThing acellular membrane An acellular anatomical structure that is the bounding layer of a anatomical structure. tmpxe7fu0cj_hp_relaxed.owl FMA:63871 uberon owl:Class UBERON:0014775 biolink:NamedThing prosomere A neuromere that is part of the presumptive forebrain. tmpxe7fu0cj_hp_relaxed.owl forebrain neuromere|segment of forebrain|forebrain segment|future prosencephalon FMA:61996 uberon owl:Class HP:0009502 biolink:NamedThing Absent epiphysis of the distal phalanx of the 2nd finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Absent ossification/absent epiphysis of terminal index finger phalanx|Absent end part of the outermost bone of the index finger UMLS:C4021461 doelkens 2009-01-16T01:11:04Z HP:0004147 human_phenotype owl:Class HP:0009488 biolink:NamedThing Absent epiphyses of the 2nd finger Absence of the epiphyses of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Absent end part of index finger UMLS:C4024336 doelkens 2009-01-16T01:07:16Z human_phenotype owl:Class GO:0001654 biolink:NamedThing eye development The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Eye_development GO:0042460 biological_process owl:Class GO:0007423 biolink:NamedThing sensory organ development The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl sense organ development biological_process owl:Class UBERON:0010686 biolink:NamedThing manual digit phalanx cartilage element A cartilage element that is part of a manual digit mesenchyme. tmpxe7fu0cj_hp_relaxed.owl fore limb digit phalanx cartilage condensation|hand digit phalanx cartilage condensation EMAPA:32658 uberon owl:Class UBERON:0015024 biolink:NamedThing manual digit phalanx endochondral element A manual digit phalanx bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl manual digit phalanx skeletal element|manual digit phalanx element uberon owl:Class GO:0060043 biolink:NamedThing regulation of cardiac muscle cell proliferation Any process that modulates the frequency, rate or extent of cardiac muscle cell proliferation. tmpxe7fu0cj_hp_relaxed.owl regulation of heart muscle cell proliferation|regulation of cardiomyocyte proliferation biological_process owl:Class HP:0006067 biolink:NamedThing Multiple carpal ossification centers A delay in the process of formation and maturation of the epiphysis of one or more long bones. tmpxe7fu0cj_hp_relaxed.owl Multiple carpal ossification centres UMLS:C1835573 human_phenotype owl:Class GO:1905310 biolink:NamedThing regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis Any process that modulates the frequency, rate or extent of cardiac neural crest cell migration involved in outflow tract morphogenesis. tmpxe7fu0cj_hp_relaxed.owl rl 2016-07-11T17:34:26Z biological_process owl:Class HP:0005238 biolink:NamedThing Discrete intestinal polyps tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025229 human_phenotype owl:Class HP:0200008 biolink:NamedThing Intestinal polyposis The presence of multiple polyps in the intestine. tmpxe7fu0cj_hp_relaxed.owl Growths in inner lining of intestine|Multiple intestinal polyps|Gastrointestinal polyps UMLS:C0744333|UMLS:C1257915|MSH:D044483 sebastiankohler 2010-06-09T11:38:54Z human_phenotype owl:Class GO:0008016 biolink:NamedThing regulation of heart contraction Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. tmpxe7fu0cj_hp_relaxed.owl regulation of cardiac contraction biological_process owl:Class HP:0025419 biolink:NamedThing Pulmonary pneumatocele A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung. tmpxe7fu0cj_hp_relaxed.owl Pulmonary pneumatocoele 2017-04-23 11:52:30+00:00 See Figure 52 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. HPO:probinson owl:Class HP:0032445 biolink:NamedThing Pulmonary cyst A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid. tmpxe7fu0cj_hp_relaxed.owl Lung cyst 2019-03-03 17:31:21+00:00 The thin wall of cystic lesions differentiates them from cavitary processes, which have thicker and irregular walls and will not be discussed in this article. On chest radiographs, findings of a cyst are often subtle, consisting of lucencies and sometimes linear opacities. An air-fluid level can improve the visibility of a cyst and may suggest infection. For the investigation of cysts, CT is substantially more sensitive than chest radiography, showing a cyst as a ringlike lucency surrounded by a thin wall. peter owl:Class GO:0062012 biolink:NamedThing regulation of small molecule metabolic process Any process that modulates the rate, frequency or extent of a small molecule metabolic process. tmpxe7fu0cj_hp_relaxed.owl regulation of small molecule metabolism dph 2018-03-19T14:11:54Z biological_process owl:Class HP:0008537 biolink:NamedThing Cleft at the superior portion of the pinna tmpxe7fu0cj_hp_relaxed.owl Cleft at the superior portion of the ear UMLS:C1865302 This term is used for Auriculocondylar syndrome (MIM:602483). Not clear if there is a clean delineation against cleft helix. human_phenotype owl:Class HP:0009902 biolink:NamedThing Cleft helix A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length. tmpxe7fu0cj_hp_relaxed.owl Notched helix|Notching of the ear helix UMLS:C4021376 This may take the form of a sharp cleft or a less well-demarcated area. This should be distinguished from a Question-mark ear. If the defect or notch occurs at the junction of the superior and descending portions of the helix, it should be coded as Darwin notch of the helix. peter 2009-04-30T10:52:45Z human_phenotype owl:Class HP:0550005 biolink:NamedThing Bilateral basilar pulmonary fibrosis It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis. tmpxe7fu0cj_hp_relaxed.owl Lung disease with systemic sclerosis|Scleroderma of lung|Scleroderma lung disease 2017-08-03 19:57:54+00:00 ORCID:0000-0002-6387-4317 owl:Class HP:0002206 biolink:NamedThing Pulmonary fibrosis Replacement of normal lung tissues by fibroblasts and collagen. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:51615001|UMLS:C0034069|MSH:D011658 Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer. HP:0006523 owl:Class UBERON:0010190 biolink:NamedThing pair of dorsal aortae The paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation. tmpxe7fu0cj_hp_relaxed.owl paired dorsal aortae EMAPA:18606|EHDAA2:0000410|MA:0000476 uberon owl:Class GO:1901533 biolink:NamedThing negative regulation of hematopoietic progenitor cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic progenitor cell differentiation. tmpxe7fu0cj_hp_relaxed.owl inhibition of haemopoietic progenitor cell differentiation|inhibition of haematopoietic progenitor cell differentiation|downregulation of hemopoietic progenitor cell differentiation|down-regulation of hemopoietic progenitor cell differentiation|downregulation of hematopoietic progenitor cell differentiation|down regulation of haematopoietic progenitor cell differentiation|down regulation of haemopoietic progenitor cell differentiation|down-regulation of haemopoietic progenitor cell differentiation|negative regulation of haematopoietic progenitor cell differentiation|inhibition of hemopoietic progenitor cell differentiation|downregulation of haemopoietic progenitor cell differentiation|negative regulation of haemopoietic progenitor cell differentiation|downregulation of haematopoietic progenitor cell differentiation|down-regulation of haematopoietic progenitor cell differentiation|inhibition of hematopoietic progenitor cell differentiation|down-regulation of hematopoietic progenitor cell differentiation|down regulation of hematopoietic progenitor cell differentiation|negative regulation of hemopoietic progenitor cell differentiation|down regulation of hemopoietic progenitor cell differentiation vk 2012-10-24T11:23:06Z biological_process owl:Class HP:0012394 biolink:NamedThing Iodine contrast allergy Allergy to iodine contrast media used in radiological studies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022917 peter 2013-11-07T07:49:32Z human_phenotype owl:Class HP:0008107 biolink:NamedThing Plantar crease between first and second toes The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1867132 human_phenotype owl:Class HP:0001869 biolink:NamedThing Deep plantar creases The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot. tmpxe7fu0cj_hp_relaxed.owl Deep wrinkles in soles of feet UMLS:C1857953 human_phenotype owl:Class HP:0001421 biolink:NamedThing Abnormality of the musculature of the hand tmpxe7fu0cj_hp_relaxed.owl Abnormal hand muscles UMLS:C4025786 peter 2008-04-07T10:59:00Z human_phenotype owl:Class HP:0001446 biolink:NamedThing Abnormality of the musculature of the upper limbs tmpxe7fu0cj_hp_relaxed.owl Abnormal upper limb muscles UMLS:C4025779 peter 2008-04-07T10:40:00Z human_phenotype owl:Class GO:1904026 biolink:NamedThing regulation of collagen fibril organization Any process that modulates the frequency, rate or extent of collagen fibril organization. tmpxe7fu0cj_hp_relaxed.owl regulation of collagen fibril organisation|regulation of collagen fibrillogenesis|regulation of fibrillar collagen organization ae 2015-03-12T12:36:52Z biological_process owl:Class UBERON:0000989 biolink:NamedThing penis An intromittent organ in certain biologically male organisms. In placental mammals, this also serves as the organ of urination. tmpxe7fu0cj_hp_relaxed.owl penes|phallus EV:0100107|galen:Penis|MESH:D010413|UMLS:C0030851|CALOHA:TS-0758|OpenCyc:Mx4rvVjkCZwpEbGdrcN5Y29ycA|GAID:389|MAT:0000186|EHDAA2:0001433|MA:0000408|EMAPA:18682|EMAPA_RETIRED:18996|MIAA:0000186|FMA:9707|EFO:0000987|EHDAA:9380|BTO:0000405|NCIT:C12409|VHOG:0000727 http://upload.wikimedia.org/wikipedia/commons/8/87/Labelled_flaccid_penis.jpg uberon owl:Class penile|phallic Most male birds (e.g., roosters and turkeys) have a cloaca (also present on the female), but not a penis. Among bird species with a penis are paleognathes (tinamous and ratites), Anatidae (ducks, geese and swans), and a very few other species (such as flamingoes). A bird penis is different in structure from mammal penises, being an erectile expansion of the cloacal wall and being erected by lymph, not blood. It is usually partially feathered and in some species features spines and brush-like filaments, and in flaccid state curls up inside the cloaca UBERON:0016423 biolink:NamedThing compact bone of diaphysis A compact bone tissue that is part of a diaphysis. tmpxe7fu0cj_hp_relaxed.owl FMA:32678 uberon owl:Class UBERON:0013772 biolink:NamedThing left nipple A nipple that is in_the_left_side_of a body proper. tmpxe7fu0cj_hp_relaxed.owl FMA:223695 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0002030 biolink:NamedThing nipple Projection of skin containing the outlets for 15-20 lactiferous ducts arranged cylindrically around the tip. tmpxe7fu0cj_hp_relaxed.owl thele|papilla of breast|papillary part of breast|papilla mammae|thelium|papilla mammaria|teat BTO:0000821|NCIT:C12299|MA:0000796|MESH:D009558|UMLS:C0028109|EMAPA:36508|galen:Nipple|FMA:67771|OpenCyc:Mx4rvVjKi5wpEbGdrcN5Y29ycA|GAID:35|CALOHA:TS-2234 http://upload.wikimedia.org/wikipedia/commons/5/59/Female_nipple_profile.jpg uberon owl:Class a male mouse has no nipples - mammary tissue regresses during embryonic development FMA makes this part of the breast, whereas in MA it is part of the mammary gland - HP:0012009 biolink:NamedThing EEG with central focal spike waves EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023082 hecht 2012-07-20T11:58:18Z human_phenotype owl:Class GO:0060462 biolink:NamedThing lung lobe development The biological process whose specific outcome is the progression of a lung lobe from an initial condition to its mature state. This process begins with the formation of a lung lobe by branching morphogenesis and ends with the mature structure. A lung lobe is one of the rounded projections that compose the lung. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0005918 biolink:NamedThing Abnormal finger phalanx morphology Abnormalities affecting the phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the phalanges of the hand|Abnormal form of phalanges of the hand|Abnormality of the phalanges|Abnormality of phalanx of finger|Abnormality of the finger bones UMLS:C4021614 This category is a supercategory for abnormalties affect phalanges of the hand. peter 2008-03-27T02:19:00Z HP:0006259|HP:0005786 human_phenotype owl:Class UBERON:0003646 biolink:NamedThing metacarpal bone of digit 2 A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 2. tmpxe7fu0cj_hp_relaxed.owl hand digit 2 metacarpal bone|metacarpal of 2 nd finger|2 nd finger metacarpal|forelimb digit 2 metacarpus|metacarpal bone of 2 nd finger|finger 2 metacarpus|manual digit 2 metacarpus|second finger metacarpal|second metacarpal bone|metacarpal bone of hand digit 2|2 nd digit of hand metacarpal|metacarpal bone of 2 nd digit of hand|metacarpal bone of second finger|2 nd finger metacarpal bone|second finger metacarpal bone|metacarpal bone of digit II|metacarpal II|metacarpal of second finger|hand digit 2 metacarpal|metacarpal 2|metacarpal bone digit 2|metacarpal of 2 nd digit of hand|metacarpal of hand digit 2|2 nd digit of hand metacarpal bone FMA:23900|NCIT:C52795|UMLS:C1708988|AAO:0000853|EMAPA:19114|MA:0001365 uberon owl:Class Dumb-bell-shaped bone of endochondral origin with cartilaginous epiphyses that articulates with the prepollex and carpal 2(1) or carpal 2+3(1+2) proximally and with the proximal phalanx of digit II(I) distally.[AAO] 2 UBERON:0002374 biolink:NamedThing metacarpal bone A bone that is part of the metacarpal skeleton. tmpxe7fu0cj_hp_relaxed.owl metacarpal EMAPA:36158|galen:Metacarpal|MA:0000302|EFO:0003886|FMA:9612|NCIT:C12751|OpenCyc:Mx4rv1Bk45wpEbGdrcN5Y29ycA|UMLS:C0025526 Metacarpals:numbered-en.svg uberon owl:Class UBERON:0001839 biolink:NamedThing bony labyrinth A system of fluid passages in the inner ear, including both the cochlea, which is part of the auditory system, and the vestibular system, which provides the sense of balance. The bony labyrinth, or osseous labyrinth, is the network of passages with bony walls lined with periosteum. The bony labyrinth is lined with the membranous labyrinth. There is a layer of perilymph between them. The three parts of the bony labyrinth are the vestibule of the ear, the semicircular canals, and the cochlea. The vestibular system is the region of the inner ear where the semicircular canals converge, close to the cochlea (the hearing organ). The vestibular system works with the visual system to keep objects in focus when the head is moving. Joint and muscle receptors also are important in maintaining balance. The brain receives, interprets, and processes the information from these systems that control our balance. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl osseus labyrinth|labyrinthus osseus|osseous labyrinth UMLS:C0458699|FMA:60179|BTO:0004685|XAO:0000193|CALOHA:TS-2080|MA:0000238|EMAPA:36580|AAO:0011078|EV:0100362|VHOG:0001219|NCIT:C33227 Ideally we would place a spatially disjoint from relationship to membranous labyrinth, but there are many parts in common. this should be resolved. http://upload.wikimedia.org/wikipedia/commons/2/22/Gray920.png uberon owl:Class GO:0008527 biolink:NamedThing taste receptor activity Combining with soluble compounds to initiate a change in cell activity. These receptors are responsible for the sense of taste. tmpxe7fu0cj_hp_relaxed.owl gustatory receptor molecular_function owl:Class HP:0003081 biolink:NamedThing Increased urinary potassium An increased concentration of potassium(1+) in the urine. tmpxe7fu0cj_hp_relaxed.owl Hyperkaliuresis|Increased urinary K|Increased urinary potassium UMLS:C1846351 human_phenotype owl:Class HP:0012598 biolink:NamedThing Abnormal urine potassium concentration An abnormal concentration of potassium(1+) in the urine. tmpxe7fu0cj_hp_relaxed.owl Abnormal urine K concentration UMLS:C4022829 peter 2014-01-16T06:11:59Z owl:Class GO:1905454 biolink:NamedThing negative regulation of myeloid progenitor cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of myeloid progenitor cell differentiation. tmpxe7fu0cj_hp_relaxed.owl down regulation of myeloid progenitor cell differentiation|down-regulation of myeloid progenitor cell differentiation|inhibition of myeloid progenitor cell differentiation|downregulation of myeloid progenitor cell differentiation rz 2016-09-16T12:32:26Z biological_process owl:Class GO:0051223 biolink:NamedThing regulation of protein transport Any process that modulates the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0070201 biolink:NamedThing regulation of establishment of protein localization Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location. tmpxe7fu0cj_hp_relaxed.owl regulation of establishment of protein localisation biological_process owl:Class HP:0005005 biolink:NamedThing Femoral bowing present at birth, straightening with time Congenital onset bending or abnormal curvature of the femur that normalizes with age. tmpxe7fu0cj_hp_relaxed.owl Bowing of thighbone at birth, straightening with time UMLS:C1833754 This feature can be diagnosed based on the medical history of congenital femoral bowing with spontaneous improvement. human_phenotype owl:Class HP:0002980 biolink:NamedThing Femoral bowing Bowing (abnormal curvature) of the femur. tmpxe7fu0cj_hp_relaxed.owl Bowed femura|Bowed femurs|Bowed thighbone|Bowed femur UMLS:C1859461 HP:0004998 owl:Class UBERON:0004506 biolink:NamedThing skeletal muscle tissue of masseter A portion of skeletal muscle tissue that is part of a masseter [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:261824 uberon owl:Class GO:0009117 biolink:NamedThing nucleotide metabolic process The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). tmpxe7fu0cj_hp_relaxed.owl nucleotide metabolism biological_process owl:Class GO:0006753 biolink:NamedThing nucleoside phosphate metabolic process The chemical reactions and pathways involving any phosphorylated nucleoside. tmpxe7fu0cj_hp_relaxed.owl nucleoside phosphate metabolism biological_process owl:Class HP:0003557 biolink:NamedThing Increased variability in muscle fiber diameter An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Variation in muscle fiber size|Increased variation in fiber size|Increased variation in muscle fiber size|Increased fibre size variation|Increased variability in muscle fiber size|Increased variation in fibre size|Increased variability in muscle fibre diameter|Increased variation in muscle fibre size|Increased fiber size variation|Variation in muscle fibre size|Increased variability in muscle fibre size UMLS:C1843700 This finding can be demonstrated by muscle biopsy. HP:0003556 human_phenotype owl:Class HP:0012084 biolink:NamedThing Abnormality of skeletal muscle fiber size Any abnormality of the size of the skeletal muscle cell. tmpxe7fu0cj_hp_relaxed.owl Abnormality of skeletal muscle fibre size UMLS:C4023051 peter 2012-08-20T03:19:54Z human_phenotype owl:Class CL:0000826 biolink:NamedThing pro-B cell A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs. tmpxe7fu0cj_hp_relaxed.owl progenitor B-lymphocyte|pro-B-cell|progenitor B lymphocyte|progenitor B cell|progenitor B-cell|pre-B cell (Philadelphia nomenclature)|pro-B-lymphocyte|pro-B lymphocyte|pre-pro B cell BTO:0003104 Human pro-B cells are reportedly CD10-positive, CD22-positive, CD34-positive, CD38-positive, CD45-low, CD48-positive, CD79a-positive, CD127-positive, CD184-positive, RAG-positive, TdT-positive, Vpre-B-positive, pre-BCR-negative, IgD-negative, and IgM-negative. Transcription factors expressed: Pax5-positive, EBF-positive, E2A-negative, Ikaros-negative, and PU.1-negative. cell owl:Class UBERON:0012375 biolink:NamedThing subserosa A layer of tissue between the muscularis and serosa. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0225334|SCTID:2255006|FMA:45636|Wikipedia:Subserosa|NCIT:C94494 Contains nerves, blood vessels, lymphatics and lymph nodes uberon owl:Class UBERON:0016440 biolink:NamedThing glabella region of bone A zone of the frontal bone that connects the supraorbital rirdges. tmpxe7fu0cj_hp_relaxed.owl glabella|glabellar surface of frontal bone FMA:52851|FMA:57136 uberon owl:Class HP:0008205 biolink:NamedThing Insulin-dependent but ketosis-resistant diabetes Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1842404 human_phenotype owl:Class UBERON:0002352 biolink:NamedThing atrioventricular node An area of conducting tissue between the atria and the ventricles of the heart that conducts the normal electrical impulse from the atria to the ventricles. tmpxe7fu0cj_hp_relaxed.owl node of Tawara|nodus atrioventricularis|A-V node|AV nodal muscle tissue|downstream pacemaker|atriovetricular node|atrioventricular nodal muscle tissue|AV node|atrio-ventricular node|Aschoff-Tawara node EFO:0000276|MAT:0000498|SCTID:277688002|GAID:558|UMLS:C0004247|Wikipedia:Atrioventricular_node|TAO:0005070|EMAPA:35153|MA:0000095|FMA:9478|MESH:D001283|VHOG:0001474|BTO:0005689|EHDAA2:0004183|NCIT:C32161|OpenCyc:Mx4rMfD91mMcEd2AAABQjYGu0g|ZFA:0005070 http://upload.wikimedia.org/wikipedia/commons/9/92/Gray501.png|http://upload.wikimedia.org/wikipedia/commons/5/50/ConductionsystemoftheheartwithouttheHeart.png uberon owl:Class Three major adaptations, or 'novel cardiac components', that were not present in the ancestor chordate heart tube can be distinguished in the lower vertebrate heart: the atrium, ventricle, and possibly the muscular sinus venosus. Furthermore, within the ventricular component a compact outer myocardial component and an interiorly localized extensive trabecular component can be distinguished. The specific activation of the ventricle adds to its complexity as follows. The depolarizing impulse travels rapidly from the atrioventricular node toward the apex and then toward the conal region, achieving activation from apex to base.[uncertain][VHOG] HP:0012198 biolink:NamedThing Juvenile colonic polyposis The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023006 A juvenile polyp is a hamartomatous growth that projects from the lining of the intestine. It does not arise from the colonocytes themselves but from the tissues underneath the lining cells. peter 2013-03-11T07:09:42Z human_phenotype owl:Class HP:0030255 biolink:NamedThing Large intestinal polyposis The presence of multiple polyps in the large intestine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022556 owl:Class HP:0031290 biolink:NamedThing Tuberous xanthoma A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 21:03:22+00:00 peter owl:Class HP:0000991 biolink:NamedThing Xanthomatosis The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. tmpxe7fu0cj_hp_relaxed.owl Yellow bumps of fatty deposits on skin|Xanthomata UMLS:C0043325|MSH:D014973|SNOMEDCT_US:63103006 human_phenotype owl:Class CHEBI:33431 biolink:NamedThing elemental chlorine tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:33434 biolink:NamedThing elemental halogen tmpxe7fu0cj_hp_relaxed.owl elemental halogens|elemental halogen chebi_ontology owl:Class UBERON:0001603 biolink:NamedThing lateral rectus extra-ocular muscle The lateral rectus muscle is a muscle in the orbit. It is one of six extraocular muscles that control the movements of the eye (abduction in this case) and the only muscle innervated by the abducens nerve, cranial nerve VI. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl lateral rectus extraocular muscle|lateral extraocular muscle|M. rectus lateralis|lateral recti|musculus rectus lateralis|lateral rectus|lateral rectus muscle|posterior rectus|musculus rectus lateralis bulbi MA:0001280|TAO:0000383|AAO:0010107|VHOG:0001129|UMLS:C0582821|ZFA:0000383|FMA:49038|NCIT:C32945 http://upload.wikimedia.org/wikipedia/commons/e/e8/Eyemuscles.png UBERON:0004837 uberon owl:Class Cranial nerve VI innervated; lateral in the rectus group.[AAO] The ability to rotate the eyeball is common to all vertebrates with well-developed eyes, regardless of the habitat in which they live, so these [extrinsic ocular] muscles tend to be conservative. They change little during the course of evolution.[well established][VHOG] UBERON:0006533 biolink:NamedThing rectus extraocular muscle tmpxe7fu0cj_hp_relaxed.owl FMA:312408|MA:0001278 uberon owl:Class GO:0021646 biolink:NamedThing vagus nerve formation The process that gives rise to the vagus nerve. This process pertains to the initial formation of a structure from unspecified parts. This nerve is primarily sensory but also has visceromotor components. It originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components. It controls some motor functions such as speech. The sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis. tmpxe7fu0cj_hp_relaxed.owl CN X formation|CN X biosynthesis biological_process owl:Class GO:0021603 biolink:NamedThing cranial nerve formation The process that gives rise to the cranial nerves. This process pertains to the initial formation of a structure from unspecified parts. The cranial nerves are composed of twelve pairs of nerves that emanate from the nervous tissue of the hindbrain. These nerves are sensory, motor, or mixed in nature, and provide the motor and general sensory innervation of the head, neck and viscera. They mediate vision, hearing, olfaction and taste and carry the parasympathetic innervation of the autonomic ganglia that control visceral functions. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0012195 biolink:NamedThing Irregular respiration Uneven rhythm of breathing. tmpxe7fu0cj_hp_relaxed.owl Irregular respiratory rhythm UMLS:C0425492|SNOMEDCT_US:248585001 peter 2013-03-11T05:10:57Z owl:Class HP:0030405 biolink:NamedThing Pancreatic endocrine tumor A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas. tmpxe7fu0cj_hp_relaxed.owl Pancreatic endocrine tumour SNOMEDCT_US:76345009|UMLS:C0242363|SNOMEDCT_US:128878003|SNOMEDCT_US:237596009|SNOMEDCT_US:399528006|MSH:D007516|SNOMEDCT_US:126864006 owl:Class UBERON:0015055 biolink:NamedThing pubic endochondral element A pubic bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl pubic skeletal element|pubic element uberon owl:Class HP:0009898 biolink:NamedThing Underdeveloped crus of the helix Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of the crus of the ear|Underdeveloped crus of the ear UMLS:C4021378 peter 2009-04-30T10:36:43Z human_phenotype owl:Class HP:0009895 biolink:NamedThing Abnormality of the crus of the helix An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the crus of the ear UMLS:C4021380 peter 2009-04-30T10:32:41Z owl:Class UBERON:0004811 biolink:NamedThing endometrium epithelium An epithelium that is part of an endometrium [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelium of tunica mucosa of endometrium|epithelial tissue of endometrium|endometrium epithelial tissue|epithelium of endometrium|uterine epithelium EMAPA:35307|MA:0002731 uberon owl:Class In rodents and primates, the uterine epithelium (the endometrium) is eroded away so that maternal blood comes into direct contact with the trophoblast surface (called haemochorial) HP:0006946 biolink:NamedThing Recurrent meningitis An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0746495 human_phenotype owl:Class UBERON:4300226 biolink:NamedThing forelimb bud mesenchyme Mesenchyme that is part of a forelimb bud. tmpxe7fu0cj_hp_relaxed.owl WD uberon owl:Class GO:1902490 biolink:NamedThing regulation of sperm capacitation tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:2000241 biolink:NamedThing regulation of reproductive process Any process that modulates the frequency, rate or extent of reproductive process. tmpxe7fu0cj_hp_relaxed.owl mah 2010-11-10T02:44:02Z biological_process owl:Class GO:0045637 biolink:NamedThing regulation of myeloid cell differentiation Any process that modulates the frequency, rate or extent of myeloid cell differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:84185 biolink:NamedThing D-proline derivative A non-proteinogenic amino acid derivative resulting from reaction of D-proline at the amino group or the carboxy group, or from the replacement of any hydrogen of D-proline by a heteroatom. tmpxe7fu0cj_hp_relaxed.owl D-proline derivatives chebi_ontology owl:Class CHEBI:26273 biolink:NamedThing proline derivative An amino acid derivative resulting from reaction of proline at the amino group or the carboxy group, or from the replacement of any hydrogen of proline by a heteroatom. The definition normally excludes peptides containing proline residues. tmpxe7fu0cj_hp_relaxed.owl proline derivatives chebi_ontology owl:Class CHEBI:57630 biolink:NamedThing gamma-amino-beta-hydroxybutyric acid zwitterion Zwitterionic form of gamma-amino-beta-hydroxybutyric acid having an anionic carboxy group and a protonated amino group. tmpxe7fu0cj_hp_relaxed.owl 4-azaniumyl-3-hydroxybutanoate|4-ammonio-3-hydroxybutanoate|4-amino-3-hydroxybutanoate 0 C4H9NO3 InChI=1S/C4H9NO3/c5-2-3(6)1-4(7)8/h3,6H,1-2,5H2,(H,7,8) YQGDEPYYFWUPGO-UHFFFAOYSA-N 119.11920 119.05824 [NH3+]CC(O)CC([O-])=O chebi_ontology owl:Class HP:0030056 biolink:NamedThing Uncombable hair Hair that is disorderly, stands out from the scalp, and cannot be combed flat. tmpxe7fu0cj_hp_relaxed.owl Uncombable hair UMLS:C1860607 owl:Class CHEBI:77450 biolink:NamedThing dicarboxylic acid monoamide(1-) A monocarboxylic acid anion obtained by deprotonation of the carboxy group of any dicarboxylic acid monoamide; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl a monoamide of a dicarboxylate -1 C2H2NO3R 88.042 88.00347 NC(=O)[*]C([O-])=O MetaCyc:DICARBOXYLIC-ACID-MONOAMIDES chebi_ontology owl:Class PR:Q9QXH4 biolink:NamedThing integrin alpha-X (mouse) An integrin alpha-X that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl leukocyte adhesion glycoprotein p150,95 alpha chain (mouse)|CD11 antigen-like family member C (mouse)|mITGAX|CD11c (mouse)|Itgax|leukocyte adhesion receptor p150,95 (mouse) UniProtKB:Q9QXH4 Category=organism-gene. protein owl:Class PR:000001013 biolink:NamedThing integrin alpha-X An integrin alpha with A domain that is a translation product of the human ITGAX gene or a 1:1 ortholog thereof. Integrin alpha-X complexed with beta-2 is a receptor for fibrinogen. It recognizes the sequence GPR in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis. tmpxe7fu0cj_hp_relaxed.owl CD11c|CD11C|Leu M5|CD11 antigen-like family member C|leukocyte adhesion receptor p150,95|ITGAX|leukocyte adhesion glycoprotein p150,95 alpha chain IUPHARobj:2454 Category=gene. Requested by=CL. protein owl:Class CL:0002632 biolink:NamedThing epithelial cell of lower respiratory tract tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-06-21T12:29:31Z cell owl:Class CL:0002368 biolink:NamedThing respiratory epithelial cell An endo-epithelial cell of the respiratory tract. tmpxe7fu0cj_hp_relaxed.owl airway epithelial cell BTO:0004533 tmeehan 2010-09-23T04:38:49Z cell owl:Class UBERON:5101463 biolink:NamedThing manual digit 1 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 1 plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl manual digit 1|manual digit I digitopodial skeleton|manual digit 1 skeleton this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class UBERON:0009847 biolink:NamedThing prostate field A specific region of the urogenital sinus epithelium into the area in which the prostate gland will develop. tmpxe7fu0cj_hp_relaxed.owl prostate primordium uberon owl:Class GO:0070227 biolink:NamedThing lymphocyte apoptotic process Any apoptotic process in a lymphocyte, a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. tmpxe7fu0cj_hp_relaxed.owl lymphocyte apoptosis Note that a lymphocyte is a cell of the B cell, T cell, or natural killer cell lineage (CL:0000542). biological_process owl:Class CHEBI:545959 biolink:NamedThing homovanillic acid A monocarboxylic acid that is the 3-O-methyl ether of (3,4-dihydroxyphenyl)acetic acid. It is a catecholamine metabolite. tmpxe7fu0cj_hp_relaxed.owl 4-Hydroxy-3-methoxybenzeneacetic acid|3-Methoxy-4-hydroxyphenylacetate|Vanillacetic acid|(4-hydroxy-3-methoxyphenyl)acetic acid|2-(4-hydroxy-3-methoxyphenyl)acetic acid|Homovanillic acid|3-Methoxy-4-hydroxyphenylacetic acid|HVA 0 C9H10O4 InChI=1S/C9H10O4/c1-13-8-4-6(5-9(11)12)2-3-7(8)10/h2-4,10H,5H2,1H3,(H,11,12) QRMZSPFSDQBLIX-UHFFFAOYSA-N 182.17330 182.05791 COc1cc(CC(O)=O)ccc1O PMID:24423636|KNApSAcK:C00029504|Wikipedia:Homovanillic_acid|KEGG:C05582|Reaxys:2213447|PMID:24416192|PMID:8353435|MetaCyc:CPD-7651|PMID:24007816|HMDB:HMDB0000118|PMID:14688447|CAS:306-08-1 CHEBI:5758 chebi_ontology owl:Class CHEBI:134251 biolink:NamedThing guaiacols Any phenol carrying an additional methoxy substituent at the ortho-position. tmpxe7fu0cj_hp_relaxed.owl 2-methoxyphenol|ortho-methoxyphenols|o-methoxyphenols|o-methoxyphenol|2-methoxyphenol derivative|2-methoxyphenols|catechol monomethyl ether|ortho-methoxyphenol|a guaiacol|catechol monomethyl ethers|1-hydroxy-2-methoxybenzenes|2-methoxyphenol derivatives 0 C7H4O2R4 120.106 120.02113 C1(=C(C(=C(C(=C1*)*)*)OC)O)* MetaCyc:Guaiacols CHEBI:13645 chebi_ontology owl:Class GO:0005506 biolink:NamedThing iron ion binding Binding to an iron (Fe) ion. tmpxe7fu0cj_hp_relaxed.owl iron binding molecular_function owl:Class GO:0046850 biolink:NamedThing regulation of bone remodeling Any process that modulates the frequency, rate or extent of bone remodeling, the processes of bone formation and resorption that combine to maintain skeletal integrity. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0034103 biolink:NamedThing regulation of tissue remodeling Any process that modulates the frequency, rate, or extent of tissue remodeling. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1901699 biolink:NamedThing cellular response to nitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. tmpxe7fu0cj_hp_relaxed.owl cellular response to nitrogen molecular entity pr 2012-12-13T15:06:13Z biological_process owl:Class GO:0051656 biolink:NamedThing establishment of organelle localization The directed movement of an organelle to a specific location. tmpxe7fu0cj_hp_relaxed.owl establishment of organelle localisation biological_process owl:Class HP:0031949 biolink:NamedThing Recurrent bacterial upper respiratory tract infections An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). tmpxe7fu0cj_hp_relaxed.owl Recurrent bacterial URI 2018-07-06 12:24:36+00:00 peter owl:Class HP:0002788 biolink:NamedThing Recurrent upper respiratory tract infections An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). tmpxe7fu0cj_hp_relaxed.owl Upper respiratory tract infections|Recurrent colds|Recurrent upper respiratory infections|Recurrent upper respiratory and lower respiratory infections|Upper respiratory tract infections, recurrent|Recurrent URI|Recurrent upper respiratory infection|Frequent upper respiratory infections|Frequent upper respiratory tract infections UMLS:C0581381|SNOMEDCT_US:195708003 HP:0002784|HP:0001740 human_phenotype owl:Class UBERON:0005203 biolink:NamedThing trachea gland A tubuloacinar seromucous gland that is located principally in the submucosa of the trachea. Excretory ducts from this gland pass through the lamina propria to the tracheal lumen. tmpxe7fu0cj_hp_relaxed.owl tracheal gland|glandula trachealis|tubular seromucous gland of trachea FMA:7473|MA:0002937|EMAPA:36574 uberon owl:Class These glands secrete mucus, lysozyme, defensins, and other agents that help protect the lungs from particles and infectious agents. UBERON:0011148 biolink:NamedThing submucosal gland Gland of the lamina epithelialis mucosae which perforate the lamina muscularis, with their adenomeres located in the submucosal connective tissue. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37970|BTO:0003751 uberon owl:Class HP:0410203 biolink:NamedThing Positive gastric fluid barbiturate test Detection of barbiturate metabolites such as phenobarbital in the gastric fluid. tmpxe7fu0cj_hp_relaxed.owl 2018-07-20 23:04:36+00:00 owl:Class HP:0011434 biolink:NamedThing Low maternal serum chorionic gonadotropin An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. tmpxe7fu0cj_hp_relaxed.owl Low maternal serum hCG UMLS:C4021149 Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. peter 2012-03-17T07:48:26Z human_phenotype owl:Class GO:0090715 biolink:NamedThing immunological memory formation process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0090713 biolink:NamedThing immunological memory process tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0003288 biolink:NamedThing meninx of midbrain A meninx that is part of a midbrain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mesencephalon meninges|midbrain meninx|midbrain meninges|meninges of midbrain EHDAA:3708|EHDAA2:0001174|MA:0001058|VHOG:0000012|RETIRED_EHDAA2:0001109|EMAPA:17791 consider changing genus to subdivision of meninx uberon owl:Class Meninges that are part of the midbrain. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] UBERON:0000375 biolink:NamedThing mandibular nerve The motor and sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini. tmpxe7fu0cj_hp_relaxed.owl third division of fifth cranial nerve|inferior maxillary nerve|third division of trigeminal nerve|mandibular nerve [Vc]|trigeminal V nerve mandibular division|nervus mandibularis [v3]|mandibular nerve [V3]|nervus mandibularis|mandibular division of fifth cranial nerve|nervus mandibularis [vc]|n. mandibularis|mandibular division of trigeminal nerve [Vc; V3]|mandibular division [Vc]|nervus mandibularis [Vc; V3]|mandibular division [V3]|trigeminal nerve mandibular division|ramus mandibularis (ramus V3) OpenCyc:Mx4rvcQKSpwpEbGdrcN5Y29ycA|VHOG:0001345|MESH:D008340|SCTID:280212008|EMAPA:17798|UMLS:C0024695|EHDAA2:0002086|MA:0001101|AAO:0010703|BTO:0001375|NCIT:C32779|FMA:52996|Wikipedia:Mandibular_nerve|AAO:0010688|GAID:834 http://upload.wikimedia.org/wikipedia/commons/4/4d/Gray781.png uberon owl:Class GO:0031331 biolink:NamedThing positive regulation of cellular catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl positive regulation of cellular catabolism|up regulation of cellular catabolic process|up-regulation of cellular catabolic process|positive regulation of cellular breakdown|activation of cellular catabolic process|stimulation of cellular catabolic process|positive regulation of cellular degradation|upregulation of cellular catabolic process biological_process owl:Class CHEBI:22313 biolink:NamedThing alkaline earth metal atom tmpxe7fu0cj_hp_relaxed.owl alkaline earth metals|Erdalkalimetall|metales alcalinoterreos|Erdalkalimetalle|metal alcalino-terreux|metal alcalinoterreo|alkaline earth metal|alkaline-earth metals|alkaline-earth metal|metaux alcalino-terreux chebi_ontology owl:Class HP:0010538 biolink:NamedThing Small sella turcica An abnormally small sella turcica. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of sella turcica|Hypoplasia of pituitary fossa|Hypoplasia of hypophseal fossa|Small hypophyseal fossa|Small pituitary fossa UMLS:C4023794|UMLS:C4072876|UMLS:C4072875 peter 2009-09-21T10:19:05Z human_phenotype owl:Class HP:0002679 biolink:NamedThing Abnormal sella turcica morphology Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the sella turcica|Abnormality of the pituitary fossa|Abnormality of the hypophysial fossa|Anomaly of the pituitary fossa|Anomaly of the hypophysial fossa|Anomaly of the sella turcica UMLS:C4021754|UMLS:C4072839 owl:Class MPATH:515 biolink:NamedThing non-Lymphoid neoplasias Hematological neoplasias of non-lymphoid origin. tmpxe7fu0cj_hp_relaxed.owl URL:http://www.bloodjournal.org/cgi/content/full/100/1/238/DC1/2 mouse_pathology.ontology owl:Class CL:0002425 biolink:NamedThing early T lineage precursor A pro-T cell that is lin-negative, CD25-negative, CD127-negative, CD44-positive and kit-positive. tmpxe7fu0cj_hp_relaxed.owl preT.ETP.Th|ETP ETPs are reportedly CD1a-negative, CD4-negative, CD7-positive, CD8a-negative, CD8b-negative, CD33-low, CD34-high, CD38-low, CD45RA-positive, and CD45RO-negative. tmeehan 2010-10-21T01:16:24Z cell owl:Class CL:0000827 biolink:NamedThing pro-T cell A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage. tmpxe7fu0cj_hp_relaxed.owl progenitor T cell|pro-T lymphocyte|DN1 cell|TN1 cell|DN1 thymocyte cell owl:Class GO:0002054 biolink:NamedThing nucleobase binding Binding to a nucleobase, any of a class of pyrmidines or purines, organic nitrogenous bases. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class GO:1901363 biolink:NamedThing heterocyclic compound binding Binding to heterocyclic compound. tmpxe7fu0cj_hp_relaxed.owl bf 2012-09-14T13:53:50Z molecular_function owl:Class GO:0071312 biolink:NamedThing cellular response to alkaloid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an alkaloid stimulus. Alkaloids are a large group of nitrogenous substances found in naturally in plants, many of which have extracts that are pharmacologically active. tmpxe7fu0cj_hp_relaxed.owl mah 2009-12-10T04:50:58Z biological_process owl:Class GO:0043279 biolink:NamedThing response to alkaloid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an alkaloid stimulus. Alkaloids are a large group of nitrogenous substances found in naturally in plants, many of which have extracts that are pharmacologically active. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0012323 biolink:NamedThing Sleep myoclonus Myoclonus that occurs during the initial phases of sleep. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0751352|SNOMEDCT_US:34101000119105|MSH:D009207 peter 2013-08-11T10:21:47Z human_phenotype owl:Class HP:0006330 biolink:NamedThing Rotated maxillary central incisors tmpxe7fu0cj_hp_relaxed.owl Twisted upper front teeth|Rotated upper central incisors|Rotated upper front teeth|Turned upper front teeth UMLS:C4025063 human_phenotype owl:Class HP:0011062 biolink:NamedThing Misalignment of incisors Misaligned incisor. tmpxe7fu0cj_hp_relaxed.owl Misalignment of incisors|Crooked incisors|Abnormality of position of incisors|Abnormality of alignment of incisors|Crooked front teeth|Malposition of incisors UMLS:C4280343|UMLS:C4023556 peter 2011-03-10T01:57:43Z human_phenotype owl:Class HP:0033052 biolink:NamedThing Psychogenic non-epileptic seizure Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging. tmpxe7fu0cj_hp_relaxed.owl Individuals with PNES may bite their tongue (though usually the front not the side), may injure themselves (though usually cuts, carpet burns or wrist injury from falling on to an out-stretched arm) and may report seizures from sleep (the night time being a vulnerable time for panic symptoms and likely to be awake at the onset). peter owl:Class CHEBI:29995 biolink:NamedThing aspartate(2-) A C4-dicarboxylate that is the dianion obtained by the deprotonation of both the carboxy groups of aspartic acid. tmpxe7fu0cj_hp_relaxed.owl aspartate(2-)|2-aminobutanedioate|2-aminosuccinate|aspartic acid dianion|aspartate -2 C4H5NO4 InChI=1S/C4H7NO4/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H,6,7)(H,8,9)/p-2 CKLJMWTZIZZHCS-UHFFFAOYSA-L 131.08684 131.02295 NC(CC([O-])=O)C([O-])=O chebi_ontology owl:Class CHEBI:61336 biolink:NamedThing C4-dicarboxylate A dicarboxylate that contains four carbon atoms. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class GO:0060920 biolink:NamedThing cardiac pacemaker cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a pacemaker cell. Pacemaker cells are specialized cardiomyocytes that are responsible for regulating the timing of heart contractions. tmpxe7fu0cj_hp_relaxed.owl pacemaker cell differentiation dph 2009-09-29T11:01:31Z biological_process owl:Class CL:0000187 biolink:NamedThing muscle cell A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. tmpxe7fu0cj_hp_relaxed.owl muscle fiber|myocyte FBbt:00005074|BTO:0000888|WBbt:0003675|BTO:0000902|FMA:67328|CALOHA:TS-2032 cell owl:Class HP:0033136 biolink:NamedThing Lymph node abscess An inflammed lymph node that is filled with pus. tmpxe7fu0cj_hp_relaxed.owl 2020-09-09 13:33:39+00:00 peter owl:Class HP:0002733 biolink:NamedThing Abnormality of the lymph nodes A lymph node abnormality. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the lymph nodes|Abnormal lymph node histology UMLS:C0149727 HP:0008149 owl:Class UBERON:0004220 biolink:NamedThing large intestine smooth muscle A portion of smooth muscle tissue that is part of a large intestine [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl non-striated muscle of large intestine|smooth muscle of large intestine|large intestine smooth muscle tissue|smooth muscle tissue of large intestine|large intestine involuntary muscle|large intestine non-striated muscle|involuntary muscle of large intestine EMAPA:35469|MA:0001547 uberon owl:Class MA class may specifically mean muscle layer, but we treat as the sum of smooth muscle in both muscle layer and muscularis mucosa CL:0000134 biolink:NamedThing mesenchymal stem cell A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. In humans, this cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs. tmpxe7fu0cj_hp_relaxed.owl MSC|stem cells, mesenchymal|marrow stromal cells|BMSC|bone marrow stromal cells|mesenchymal stromal cell|mesenchymal stromal cells|mesenchymal precursor cell|mesenchymal stem cell|mesenchymal progenitor cells|colony-forming unit-fibroblast|CFU-F FMA:70546|BTO:0003298|BTO:0002625 Many but not all mesenchymal cells derive from the mesoderm. MSCs are reportedly CD3-negative, CD4-negative, CD5-negative, CD8-negative, CD11a-negative, CD11b-negative, CD14-negative, CD19-negative, CD29-positive, CD31-negative, CD34-negative, CD38-negative, CD40-negative, CD44-positive, CD45-negative, CD49-positive, CD54-positive, CD66b-negative, CD79a-negative, CD80-negative, CD102-positive, CD106-positive, CD117-positive, CD121a-positive, CD121b-positive, CD123-positive, CD124-positive, CD133-negative, CD146-positive, CD166-positive, CD271-positive, B220-negative, Gr1-negative, MHCI-positive, MHCII-negative, SSEA4-negative, sca1-positive, Ter119-negative, and glycophorin A-negative. Cultured MSCs are capable of producing stem cell factor, IL7, IL8, IL11, TGF-beta, cofilin, galectin-1, laminin-receptor 1, cyclophilin A, and MMP-2. CL:0002452 cell https://github.com/obophenotype/cell-ontology/issues/474 owl:Class CL:0000048 biolink:NamedThing multi fate stem cell A stem cell that can give rise to multiple lineages of cells. tmpxe7fu0cj_hp_relaxed.owl multipotent stem cell|multipotent cell|multifate stem cell|multi-fate stem cell FMA:84789 cell owl:Class HP:0006505 biolink:NamedThing Abnormality of limb epiphysis morphology An anomaly of one or more epiphyses of a limb. tmpxe7fu0cj_hp_relaxed.owl Abnormality involving the epiphyses of the limbs|Abnormal shape of end part of limb bones UMLS:C4021593 An epiphysis is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. peter 2008-03-28T06:48:00Z owl:Class HP:0009140 biolink:NamedThing Synostosis involving bones of the feet tmpxe7fu0cj_hp_relaxed.owl Fusion involving the bones of the feet UMLS:C4024575 peter 2008-04-17T02:54:00Z human_phenotype owl:Class HP:3000046 biolink:NamedThing Abnormality of geniohyoid muscle An abnormality of a geniohyoid muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073254 vasilevs 2015-08-07T01:04:58Z human_phenotype owl:Class HP:0000253 biolink:NamedThing Progressive microcephaly Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Microcephaly, postnatal, progressive|Progressively abnormally small skull|Progressively abnormally small cranium|Microcephaly, progressive UMLS:C1850456 human_phenotype owl:Class HP:0005484 biolink:NamedThing Secondary microcephaly Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. tmpxe7fu0cj_hp_relaxed.owl Development of small head that was not present at birth|Microcephaly, acquired|Deceleration of head growth|Acquired microcephaly|Postnatal deceleration of head circumference|Postnatal microcephaly|Microcephaly, postnatal UMLS:C1847514 HP:0000259|HP:0005499|HP:0000241 owl:Class UBERON:0003853 biolink:NamedThing spinal cord neural crest A neural crest that has_potential_to_developmentally_contribute_to a spinal cord. tmpxe7fu0cj_hp_relaxed.owl neural crest spinal cord|spinal neural crest VHOG:0001006|EMAPA:16881|EHDAA:696|EMAPA:16163 uberon owl:Class We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...)[well established][VHOG] UBERON:0002342 biolink:NamedThing neural crest A specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types[MP]. tmpxe7fu0cj_hp_relaxed.owl crista neuralis|NC|neural crest material XAO:0000048|AAO:0010578|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1366|FMA:86666|TAO:0000045|EHDAA2:0004419|ZFA:0000045|MAT:0000066|EMAPA:32737|Wikipedia:Neural_crest|SCTID:361462002|GAID:1310|MESH:A16.254.600|CALOHA:TS-0676|BTO:0001764|VHOG:0000057|NCIT:C34222|UMLS:C0027789|MIAA:0000066 Gene notes: Many factors and genes, such as Pax3 (Tremblay et al., 1995), slug (Nieto et al., 1994), AP-2 (Zhang et al., 1996; Schorle et al., 1996), and Wnt-1/3a (Ikeya et al., 1997) are expressed in the dorsal most region of the neural tube, and have been shown to be involved in the generation of neural crest cells. Neural:Crest.png|http://upload.wikimedia.org/wikipedia/commons/5/5f/Gray644.png consider including subclasses for pre- and post- migratory (e.g. sheets/paths/streams). uberon owl:Class A cell population arising from the dorsolateral aspect of the central nervous system primordium during the segmentation period, and later migrating along stereotyped pathways to give rise to a diverse and well-defined set of cell types including pigment cells, peripheral neurons and glia, and head cartilage. Kimmel et al, 1995.[TAO]|Migratory cell population which delaminates from neural tube, borders surface ectoderm and neural ectoderm, and gives rise to many different tissue types.[AAO] A well developed neural crest population is present in lampreys (Horigome et al. 1999 ; Tomsa & Langeland, 1999) and gnathostomes. chordate fossils from the early Cambrian (Yunnanozoan and Haikouella) with apparent neural-crest derived structures (pharyngeal denticles and pharyngeal skeletons resembling the striped mucocartilage of the branchial bars in lamprey ammocoete larvae), suggests that neural crest arose very early in vertebrate evolution (Chen et al. 1999; Holland & Chen, 2001). The invertebrate chordates apparently lack defini- tive neural crest. One marker of migrating neural crest in some vertebrates, the antibody HNK1, does not recognize any cells in amphioxus embryos (Holland, unpublished). Even so, in both amphioxus and tunicates, cells at the edges of the neural plate and adjacent nonneural ectoderm share some properties of neural crest[PMID:11523831]|We conclude that the neural crest is a vertebrate novelty, but that neural crest cells and their derivatives evolved and diversified in a step-wise fashion - first by elaboration of neural plate border cells, then by the innovation or co-option of new or ancient metazoan cell fates.[well established][VHOG] UBERON:0005047 biolink:NamedThing mucosa of vocal fold A mucosa that is part of a vocal cord [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucosa of glottis|mucosa of true vocal cord|vocal cord organ mucosa|mucous membrane of vocal cord|true vocal cord mucosa of organ|vocal cord mucous membrane|true vocal cord mucous membrane|true vocal cord mucosa|vocal cord mucosa of organ|mucosa of organ of vocal cord|organ mucosa of vocal cord|vocal cord mucosa|mucosa of organ of true vocal cord|organ mucosa of true vocal cord|mucous membrane of true vocal cord|vocal fold mucosa|mucosa of vocal cord|true vocal cord organ mucosa FMA:64017 uberon owl:Class UBERON:0001824 biolink:NamedThing mucosa of larynx The mucous lining of the larynx, which is composed of squamous epithelium in the upper larynx and ciliated columnar epithelium in the lower larynx. tmpxe7fu0cj_hp_relaxed.owl organ mucosa of larynx|larynx organ mucosa|tunica mucosa laryngis|laryngeal mucous membrane|larynx mucous membrane|laryngeal mucosa|mucous membrane of larynx|larynx mucosa of organ|mucosa of organ of larynx|larynx mucosa NCIT:C49246|FMA:59662|UMLS:C0023053|MESH:D007820|SCTID:361940006|EMAPA:18334|MA:0001766|GAID:301 uberon owl:Class HP:0032770 biolink:NamedThing Focal aware autonomic seizure with erection A focal autonomic seizure with erection characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032740 biolink:NamedThing Focal aware autonomic seizure A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout. tmpxe7fu0cj_hp_relaxed.owl Focal autonomic seizures without altered responsiveness|Localised autonomic seizures without altered responsiveness|Localized autonomic seizures without altered responsiveness|Partial autonomic seizures without altered responsiveness peter HP:0011156 owl:Class GO:2000253 biolink:NamedThing positive regulation of feeding behavior Any process that activates or increases the frequency, rate or extent of feeding behavior. tmpxe7fu0cj_hp_relaxed.owl positive regulation of behavioral response to food|positive regulation of feeding behaviour|positive regulation of eating|positive regulation of behavioural response to food|positive regulation of drinking yaf 2010-11-18T11:24:18Z biological_process owl:Class GO:0060259 biolink:NamedThing regulation of feeding behavior Any process that modulates the rate, frequency or extent of the behavior associated with the intake of food. tmpxe7fu0cj_hp_relaxed.owl regulation of feeding behaviour biological_process owl:Class HP:0003305 biolink:NamedThing Block vertebrae Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844753 human_phenotype owl:Class CHEBI:46775 biolink:NamedThing N-alkylpyrrolidine tmpxe7fu0cj_hp_relaxed.owl N-alkylpyrrolidines chebi_ontology owl:Class CHEBI:50996 biolink:NamedThing tertiary amino compound A compound formally derived from ammonia by replacing three hydrogen atoms by organyl groups. tmpxe7fu0cj_hp_relaxed.owl tertiary amino compounds chebi_ontology owl:Class GO:0048580 biolink:NamedThing regulation of post-embryonic development Any process that modulates the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0032228 biolink:NamedThing Trichodiscoma A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion. tmpxe7fu0cj_hp_relaxed.owl 2019-01-26 14:38:09+00:00 In contrast to trichodiscoma, fibrofolliculoma shows a keratin-plugged and often distorted hair follicle in the center of the lesion. A mantle of mucoid or fibrous stroma surrounds this central follicle; thin epithelial strands emerge from the central follicle and may form a netlike pattern. peter owl:Class HP:0012842 biolink:NamedThing Skin appendage neoplasm A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. tmpxe7fu0cj_hp_relaxed.owl Skin adnexal tumor|Skin adnexal neoplasm|Skin adnexal tumour UMLS:C0345988|NCIT:C3262|SNOMEDCT_US:126489007|SNOMEDCT_US:55681005 peter 2014-06-06T08:02:51Z human_phenotype owl:Class HP:0025058 biolink:NamedThing Hypothalamic atrophy Partial or complete wasting (loss) of hypothalamus tissue that was once present. tmpxe7fu0cj_hp_relaxed.owl Atrophy of the hypothalamus 2016-09-26 09:07:40+00:00 HPO:probinson owl:Class HP:0002395 biolink:NamedThing Lower limb hyperreflexia tmpxe7fu0cj_hp_relaxed.owl Brisk lower extremity reflexes|Hyperreflexia in the lower limbs|Overactive lower leg reflex|Hyperreflexia in lower limbs|Increased deep tendon reflexes in the lower limbs|Leg hyperreflexia UMLS:C1836696 HP:0007288|HP:0007245 owl:Class HP:0001347 biolink:NamedThing Hyperreflexia Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. tmpxe7fu0cj_hp_relaxed.owl Increased deep tendon reflexes|Increased reflexes UMLS:C0151889|SNOMEDCT_US:86854008|MSH:D012021 Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less. HP:0001282|HP:0007184|HP:0006820|HP:0007318 human_phenotype owl:Class UBERON:0009638 biolink:NamedThing orbitosphenoid ossification center tmpxe7fu0cj_hp_relaxed.owl orbitosphenoid center merge with sphenoid lesser wing cartilage element? uberon owl:Class UBERON:0010355 biolink:NamedThing ossification center The first step in ossification of the cartilage is that the cartilage cells, at the point where ossification is commencing and which is termed a ossification center, enlarge and arrange themselves in rows. The matrix in which they are imbedded increases in quantity, so that the cells become further separated from each other. A deposit of calcareous material now takes place in this matrix, between the rows of cells, so that they become separated from each other by longitudinal columns of calcified matrix, presenting a granular and opaque appearance. Here and there the matrix between two cells of the same row also becomes calcified, and transverse bars of calcified substance stretch across from one calcareous column to another. Thus there are longitudinal groups of the cartilage cells enclosed in oblong cavities, the walls of which are formed of calcified matrix which cuts off all nutrition from the cells; the cells, in consequence, atrophy, leaving spaces called the primary areolC&. tmpxe7fu0cj_hp_relaxed.owl centrum ossificationis|center of ossification|ossification centre FMA:75436 http://upload.wikimedia.org/wikipedia/commons/f/fd/Gray79.png currently classified as a zone of a bone organ, but exists prior to bone ossifying uberon owl:Class GO:0099578 biolink:NamedThing regulation of translation at postsynapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the postsynapse. tmpxe7fu0cj_hp_relaxed.owl Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua. biological_process owl:Class GO:0140245 biolink:NamedThing regulation of translation at postsynapse Any process that regulates translation occurring at the postsynapse. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/synapse/issues/210 Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua. pg 2018-07-15T09:38:54Z biological_process owl:Class GO:0060759 biolink:NamedThing regulation of response to cytokine stimulus Any process that modulates the rate, frequency, or extent of a response to cytokine stimulus. tmpxe7fu0cj_hp_relaxed.owl dph 2009-06-22T02:56:12Z biological_process owl:Class HP:0030029 biolink:NamedThing Splayed fingers Divergence of digits along the A/P axis (in the plane of the palm). tmpxe7fu0cj_hp_relaxed.owl Spreading of the fingers|Splayed fingers UMLS:C4021057 This may be associated with Macrodactyly, but this should be assessed and coded separately. The affected digits should be specified. owl:Class HP:0000667 biolink:NamedThing Phthisis bulbi Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0271007|SNOMEDCT_US:4229009 Phthisis bulbi refers to atrophy and degeneration of a blind eye. human_phenotype owl:Class UBERON:0007842 biolink:NamedThing membrane bone Bone element that arises as a result of intramembranous ossification. tmpxe7fu0cj_hp_relaxed.owl membrane bones AEO:0000085|VSAO:0000023|ZFA:0001636|TAO:0001645|EHDAA2:0003085|XAO:0004014 uberon owl:Class Intramembranous bone that forms deep in the organism.[TAO]|Bone element that arises as a result of intramembranous ossification.[VSAO] GO:0071873 biolink:NamedThing response to norepinephrine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a norepinephrine stimulus. Norepinephrine is a catecholamine that has the formula C8H11NO3; it acts as a hormone, and as a neurotransmitter in most of the sympathetic nervous system. tmpxe7fu0cj_hp_relaxed.owl response to noradrenaline stimulus|response to norepinephrine stimulus Note that epinephrine and norepinephrine are ligands for the same receptors, and there are multiple adrenergic receptors. mah 2010-09-13T03:31:53Z biological_process owl:Class GO:0060039 biolink:NamedThing pericardium development The process whose specific outcome is the progression of the pericardium over time, from its formation to the mature structure. The pericardium is a double-walled sac that contains the heart and the roots of the aorta, vena cava and the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0011875 biolink:NamedThing ligament of sternoclavicular joint A skeletal ligament that is part of a sternoclavicular joint. tmpxe7fu0cj_hp_relaxed.owl ligamentum sternoclavicularis|sternoclavicular joint ligament FMA:63980 uberon owl:Class CHEBI:39745 biolink:NamedThing dihydrogenphosphate A monovalent inorganic anion that consists of phosphoric acid in which one of the three OH groups has been deprotonated. tmpxe7fu0cj_hp_relaxed.owl dihydrogentetraoxophosphate(V)|dihydrogenphosphate|[PO2(OH)2](-)|H2PO4(-)|dihydroxidodioxidophosphate(1-)|dihydrogentetraoxophosphate(1-)|dihydrogen(tetraoxidophosphate)(1-)|DIHYDROGENPHOSPHATE ION -1 H2O4P InChI=1S/H3O4P/c1-5(2,3)4/h(H3,1,2,3,4)/p-1 NBIIXXVUZAFLBC-UHFFFAOYSA-M 96.98724 96.96962 [H]OP([O-])(=O)O[H] Gmelin:1999|PDBeChem:2HP|DrugBank:DB02831 CHEBI:29137|CHEBI:39739 chebi_ontology owl:Class HP:0011138 biolink:NamedThing Abnormality of skin adnexa morphology An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. tmpxe7fu0cj_hp_relaxed.owl Abnormal skin appendage UMLS:C4023518 peter 2011-06-19T06:25:34Z human_phenotype owl:Class HP:0011499 biolink:NamedThing Mydriasis Abnormal dilatation of the iris. tmpxe7fu0cj_hp_relaxed.owl Dilated pupil MSH:D015878|SNOMEDCT_US:37125009|UMLS:C0026961 peter 2012-04-03T07:49:21Z human_phenotype owl:Class HP:0007686 biolink:NamedThing Abnormal pupillary function A functional abnormality of the pupil. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:72124005|UMLS:C0917967|MSH:D011681 It is preferable to describe the functional defect precisely. human_phenotype owl:Class HP:0100932 biolink:NamedThing Sclerosis of the proximal phalanx of the 3rd toe An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the innermost bone of the 3rd toe UMLS:C4021926 human_phenotype owl:Class HP:0003397 biolink:NamedThing Generalized hypotonia due to defect at the neuromuscular junction tmpxe7fu0cj_hp_relaxed.owl Generalised hypotonia due to defect at the neuromuscular junction UMLS:C1853950 owl:Class HP:0001290 biolink:NamedThing Generalized hypotonia Generalized muscular hypotonia (abnormally low muscle tone). tmpxe7fu0cj_hp_relaxed.owl Hypotonia, generalised|Generalised muscular hypotonia|Generalised decreased muscle tone|Hypotonia, generalized|Generalised hypotonia|Generalized muscular hypotonia|Generalized decreased muscle tone UMLS:C1858120 owl:Class GO:0009112 biolink:NamedThing nucleobase metabolic process The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. tmpxe7fu0cj_hp_relaxed.owl nucleobase metabolism biological_process owl:Class GO:0055086 biolink:NamedThing nucleobase-containing small molecule metabolic process The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. tmpxe7fu0cj_hp_relaxed.owl nucleobase, nucleoside and nucleotide metabolism|nucleobase, nucleoside and nucleotide metabolic process biological_process owl:Class HP:0006957 biolink:NamedThing Loss of ability to walk tmpxe7fu0cj_hp_relaxed.owl Loss of ability to walk UMLS:C1849097 human_phenotype owl:Class HP:0002505 biolink:NamedThing Loss of ambulation Progressive inability to walk in a person who previous had the ability to walk. tmpxe7fu0cj_hp_relaxed.owl Progressive inability to walk UMLS:C1836843 owl:Class HP:0031393 biolink:NamedThing Abnormal proportion of CD8-positive T cells Any abnormality in the proportion of CD8 T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal proportion of CD8+ T cells|Abnormal proportion of CD8-positive, alpha-beta T cells 2017-09-02 17:06:06+00:00 peter owl:Class HP:0025540 biolink:NamedThing Abnormal T cell subset distribution Any abnormality in the proportion T cells subsets relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl 2017-06-12 15:27:58+00:00 HPO:probinson owl:Class UBERON:0004785 biolink:NamedThing respiratory system mucosa The mucous membrane lining the respiratory tract. tmpxe7fu0cj_hp_relaxed.owl respiratory mucosa|respiratory system mucosa of organ|mucosa of respiratory system|respiratory tract mucosa|apparatus respiratorius mucous membrane|respiratory system mucous membrane|mucous membrane of respiratory system|mucous membrane of apparatus respiratorius|apparatus respiratorius mucosa|apparatus respiratorius mucosa of organ|mucosa of apparatus respiratorius|mucosa of organ of respiratory system|laryngeal mucous membrane|mucosa of organ of apparatus respiratorius EMAPA:18334|GAID:304|EMAPA:37577|FMA:302092|BTO:0000973|MA:0001827|MESH:D020545 TODO - split respiratory tract mucosa from respiratory system mucosa uberon owl:Class HP:0012018 biolink:NamedThing EEG with temporal focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023073 hecht 2012-07-20T12:02:59Z human_phenotype owl:Class GO:0021863 biolink:NamedThing forebrain neuroblast differentiation The process in which neuroepithelial cells in the neural tube acquire specialized structural and/or functional features of basal progenitor cells, neuroblasts that lose their contacts with the ventricular surface. Differentiation includes the processes involved in commitment of a cell to a specific fate. tmpxe7fu0cj_hp_relaxed.owl abventricular progenitor cell differentiation|intermediate progenitor cell differentiation|non-surface dividing progenitor cell differentiation biological_process owl:Class GO:0060623 biolink:NamedThing regulation of chromosome condensation Any process that modulates the rate, frequency, or extent of chromosome condensation, the progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. tmpxe7fu0cj_hp_relaxed.owl dph 2009-05-18T02:12:13Z biological_process owl:Class GO:0033044 biolink:NamedThing regulation of chromosome organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a chromosome. tmpxe7fu0cj_hp_relaxed.owl regulation of chromosome organisation|regulation of chromosome organization and biogenesis biological_process owl:Class HP:0007835 biolink:NamedThing S-shaped palpebral fissures tmpxe7fu0cj_hp_relaxed.owl S-shaped opening between the eyelids|S-shaped eyes UMLS:C4024787 human_phenotype owl:Class CL:0000946 biolink:NamedThing antibody secreting cell A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class CL:0000945 biolink:NamedThing lymphocyte of B lineage A lymphocyte of B lineage with the commitment to express an immunoglobulin complex. tmpxe7fu0cj_hp_relaxed.owl Types of B lineage lymphocytes include B cells and antibody secreting cells (plasmablasts and plasma cells). Lymphocytes of B cell lineage can be distinguished from those of T cell lineage by their lack of CD3e (as part of the T cell receptor complex). cell owl:Class GO:0033036 biolink:NamedThing macromolecule localization Any process in which a macromolecule is transported to, or maintained in, a specific location. tmpxe7fu0cj_hp_relaxed.owl macromolecule localisation biological_process owl:Class GO:0097512 biolink:NamedThing cardiac myofibril A cardiac myofibril is a myofibril specific to cardiac muscle cells. tmpxe7fu0cj_hp_relaxed.owl pr 2013-10-16T13:04:58Z cellular_component owl:Class GO:0030016 biolink:NamedThing myofibril The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Myofibril cellular_component owl:Class GO:1903335 biolink:NamedThing regulation of vacuolar transport Any process that modulates the frequency, rate or extent of vacuolar transport. tmpxe7fu0cj_hp_relaxed.owl vw 2014-08-18T13:16:04Z biological_process owl:Class HP:0032178 biolink:NamedThing Flaky paint dermatosis A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001). tmpxe7fu0cj_hp_relaxed.owl Flaky paint skin appearance 2019-01-06 13:46:09+00:00 Flaky paint dermatosis is a cutaneous manifestations of kwashiorkor. peter owl:Class HP:0007181 biolink:NamedThing Interosseus muscle atrophy Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones. tmpxe7fu0cj_hp_relaxed.owl Interosseous muscular atrophy UMLS:C1846829 This term needs disambiguation. Palmar, plantar, or dorsal interosseus muscles. human_phenotype owl:Class HP:0003693 biolink:NamedThing Distal amyotrophy Muscular atrophy affecting muscles in the distal portions of the extremities. tmpxe7fu0cj_hp_relaxed.owl Muscle atrophy, distal|Distal amyotrophy, especially of the hands and feet|Distal muscle atrophy, upper and lower limbs|Distal muscle atrophy|Amyotrophy of distal limb muscles|Distal muscle wasting|Distal muscular atrophy|Distal muscle degeneration|Distal limb muscle atrophy UMLS:C1848736 Most polyneuropathies affect distal lower extremity miuscles early on. Polyneuropathies are roughly symmeetric in distribution and tend to affect nerves in a length-dependent manner, with the longest nerves first (stocking-glove distribution). HP:0009065|HP:0002484|HP:0008937|HP:0009015|HP:0009040|HP:0003486|HP:0008958|HP:0003699|HP:0006864|HP:0006786|HP:0002934 human_phenotype owl:Class HP:0010018 biolink:NamedThing Enlarged epiphysis of the 1st metacarpal Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the 1st long bone of hand UMLS:C4024105 doelkens 2009-05-27T04:02:50Z human_phenotype owl:Class HP:0006134 biolink:NamedThing Enlarged metacarpal epiphyses Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges). tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of long bone of hand UMLS:C1865035 owl:Class HP:0010414 biolink:NamedThing Broad distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Broad outermost bone of the 2nd toe|Wide outermost bone of the 2nd toe UMLS:C4023842 doelkens 2009-07-16T12:44:41Z human_phenotype owl:Class GO:0006518 biolink:NamedThing peptide metabolic process The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. tmpxe7fu0cj_hp_relaxed.owl peptide metabolism biological_process owl:Class GO:0072502 biolink:NamedThing cellular trivalent inorganic anion homeostasis Any process involved in the maintenance of an internal steady state of trivalent inorganic anions at the level of a cell. tmpxe7fu0cj_hp_relaxed.owl Note that this term was split from 'cellular di-, tri-valent inorganic anion homeostasis ; GO:0030319' (sibling term 'cellular divalent inorganic anion homeostasis' ; GO:0072501'). mah 2010-12-16T12:53:42Z biological_process owl:Class CHEBI:83056 biolink:NamedThing Daphnia magna metabolite A Daphnia metabolite produced by the species Daphnia magna. tmpxe7fu0cj_hp_relaxed.owl Daphnia magna metabolites chebi_ontology owl:Class CHEBI:83057 biolink:NamedThing Daphnia metabolite A crustacean metabolite produced by the genus of small planktonic arthropods, Daphnia tmpxe7fu0cj_hp_relaxed.owl Daphnia metabolites Wikipedia:Daphnia chebi_ontology owl:Class HP:0041246 biolink:NamedThing Fractured sternum A partial or complete breakage of the sternum. tmpxe7fu0cj_hp_relaxed.owl bone sternum owl:Class HP:0030554 biolink:NamedThing Best corrected visual acuity 0.1 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073027 owl:Class GO:0031340 biolink:NamedThing positive regulation of vesicle fusion Any process that activates or increases the frequency, rate or extent of vesicle fusion. tmpxe7fu0cj_hp_relaxed.owl up regulation of vesicle fusion|up-regulation of vesicle fusion|stimulation of vesicle fusion|upregulation of vesicle fusion|activation of vesicle fusion biological_process owl:Class GO:0051050 biolink:NamedThing positive regulation of transport Any process that activates or increases the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl activation of transport|up-regulation of transport|upregulation of transport|up regulation of transport|stimulation of transport biological_process owl:Class UBERON:0015086 biolink:NamedThing distal carpal bone 1 pre-cartilage condensation A distal carpal bone 1 endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0015084 biolink:NamedThing distal carpal bone 1 endochondral element tmpxe7fu0cj_hp_relaxed.owl distal carpal 1 uberon owl:Class HP:0030031 biolink:NamedThing Small toe Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual. tmpxe7fu0cj_hp_relaxed.owl Small toe UMLS:C4022667 This is an acknowledged bundled term. There are no standards for this finding, clinical judgment must be used. The affected toes should be numbered. owl:Class HP:0001991 biolink:NamedThing Aplasia/Hypoplasia of toe Absence or hypoplasia of toes. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped toe|Absent/hypoplastic toes|Aplastic/hypoplastic toe phalanges|Absent/small toe UMLS:C3551148 human_phenotype owl:Class GO:0042696 biolink:NamedThing menarche The beginning of the menstrual cycle; the first menstrual cycle in an individual. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Menarche Note that this term should not be used for direct annotation. If you are trying to make an annotation to x phase, it is likely that the correct annotation is 'regulation of x/y phase transition' or to a process which occurs during the reported phase. To capture the phase when a specific location or process is observed, the phase term can be used in an annotation extension (PMID:24885854) applied to a cellular component term (with the relation exists_during) or a biological process term (with the relation happens_during). biological_process owl:Class GO:0022601 biolink:NamedThing menstrual cycle phase The progression of physiological phases, occurring in the endometrium during the menstrual cycle that recur at regular intervals during the reproductive years. The menstrual cycle is an ovulation cycle where the endometrium is shed if pregnancy does not occur. tmpxe7fu0cj_hp_relaxed.owl Note that this term should not be used for direct annotation. If you are trying to make an annotation to x phase, it is likely that the correct annotation is 'regulation of x/y phase transition' or to a process which occurs during the reported phase. To capture the phase when a specific location or process is observed, the phase term can be used in an annotation extension (PMID:24885854) applied to a cellular component term (with the relation exists_during) or a biological process term (with the relation happens_during). biological_process owl:Class HP:0010972 biolink:NamedThing Anemia of inadequate production A kind of anemia characterized by inadequate production of erythrocytes. tmpxe7fu0cj_hp_relaxed.owl Anemia, dyserythropoietic|Defective erythropoiesis|Dyserythropoietic anaemia|Ineffective erythropoiesis|Anaemia of inadequate production|Dyserythropoietic anemia SNOMEDCT_US:70730006|UMLS:C0392708|UMLS:C0678199 peter 2011-02-06T02:24:54Z HP:0005553|HP:0005501|HP:0005504 human_phenotype owl:Class UBERON:0001829 biolink:NamedThing major salivary gland One of the three largest glands of the oral cavity that secrete most of the saliva, including the parotid, submandibular, and sublingual glands. tmpxe7fu0cj_hp_relaxed.owl NCIT:C12999|FMA:59788|UMLS:C0930553|galen:MajorSalivaryGland|MA:0002478 uberon owl:Class There are 3 pairs of major salivary glands in human and mouse HP:0009511 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 2nd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of the outermost bone of the index finger UMLS:C4024320 doelkens 2009-01-16T01:11:04Z human_phenotype owl:Class HP:0000505 biolink:NamedThing Visual impairment Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. tmpxe7fu0cj_hp_relaxed.owl Visual impairment|Impaired vision|Loss of eyesight|Poor vision MSH:D015354|SNOMEDCT_US:397540003|SNOMEDCT_US:7973008|UMLS:C0042798|SNOMEDCT_US:246635007|UMLS:C3665347|MSH:D014786 HP:0007860|HP:0007758|HP:0007983|HP:0000516|HP:0000566 human_phenotype owl:Class CHEBI:20106 biolink:NamedThing vanillylmandelic acid An aromatic ether that is the 3-O-methyl ether of 3,4-dihydroxymandelic acid. tmpxe7fu0cj_hp_relaxed.owl 2-hydroxy-2-(4-hydroxy-3-methoxyphenyl)acetic acid|Vanillylmandelic acid|Vanilmandelic acid|hydroxy(4-hydroxy-3-methoxyphenyl)acetic acid|3-methoxy-4-hydroxymandelic acid 0 C9H10O5 InChI=1S/C9H10O5/c1-14-7-4-5(2-3-6(7)10)8(11)9(12)13/h2-4,8,10-11H,1H3,(H,12,13) CGQCWMIAEPEHNQ-UHFFFAOYSA-N 198.17270 198.05282 COc1cc(ccc1O)C(O)C(O)=O PMID:23112240|PMID:23399766|Wikipedia:Vanillylmandelic_acid|Beilstein:2213227|KEGG:C05584|PMID:13756637|MetaCyc:VANILLYL_MANDELATE|PMID:24327171|PMID:23830883|CAS:55-10-7|HMDB:HMDB0000291|Reaxys:2213227 chebi_ontology owl:Class CHEBI:49302 biolink:NamedThing 2-hydroxy monocarboxylic acid tmpxe7fu0cj_hp_relaxed.owl 2-hydroxy monocarboxylic acids|2-hydroxy acid CHEBI:19626|CHEBI:35967 chebi_ontology owl:Class GO:0072348 biolink:NamedThing sulfur compound transport The directed movement of compounds that contain sulfur, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl sulfur-containing compound transport mah 2010-11-11T11:43:56Z biological_process owl:Class HP:0011825 biolink:NamedThing Tented philtrum Prominence of a triangular soft tissue area of the philtrum with the apex to the columella. tmpxe7fu0cj_hp_relaxed.owl Philtrum, Tented UMLS:C4021119 A tented philtrum may accompany a Smooth philtrum. If present this should be coded separately. peter 2012-05-01T10:32:31Z human_phenotype owl:Class GO:0062094 biolink:NamedThing stomach development The process whose specific outcome is the progression of the stomach over time, from its formation to the mature structure. The stomach is an expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. tmpxe7fu0cj_hp_relaxed.owl dph 2018-11-20T18:15:45Z biological_process owl:Class HP:0012775 biolink:NamedThing Stellate iris A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022727 peter 2014-04-07T03:54:41Z human_phenotype owl:Class HP:0040015 biolink:NamedThing Increased activity of mitochondrial respiratory chain tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022491 HPO:skoehler owl:Class HP:0011073 biolink:NamedThing Abnormality of dental color A developmental defect of tooth color. tmpxe7fu0cj_hp_relaxed.owl Abnormality of tooth shade|Abnormality of dental colour|Abnormality of dental shade|Abnormality of dental color|Abnormality of tooth color|Abnormality of tooth colour UMLS:C4023551 peter 2011-03-10T05:20:03Z human_phenotype owl:Class HP:0011061 biolink:NamedThing Abnormality of dental structure An abnormality of the structure or composition of the teeth. tmpxe7fu0cj_hp_relaxed.owl Abnormality of tooth structure|Abnormality of tooth part UMLS:C4023557 peter 2011-03-10T01:44:04Z human_phenotype owl:Class HP:0004922 biolink:NamedThing Atypical hyperphenylalaninemia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025273 human_phenotype owl:Class HP:0010893 biolink:NamedThing Abnormal circulating phenylalanine concentration Any deviation from the normal concentration of phenylalanine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of phenylalanine metabolism UMLS:C4023672 peter 2010-11-11T03:23:30Z human_phenotype owl:Class HP:0002273 biolink:NamedThing Tetraparesis Weakness of all four limbs. tmpxe7fu0cj_hp_relaxed.owl Quadriparesis SNOMEDCT_US:91327001|UMLS:C0270790|MSH:D011782 Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. HP:0002338 owl:Class CL:1000223 biolink:NamedThing lung neuroendocrine cell tmpxe7fu0cj_hp_relaxed.owl owl:Class CL:0000082 biolink:NamedThing epithelial cell of lung An epithelial cell of the lung. tmpxe7fu0cj_hp_relaxed.owl lung epithelial cell BTO:0004299 cell owl:Class GO:0003216 biolink:NamedThing cardiac left atrium formation The developmental process pertaining to the initial formation of a left cardiac atrium from unspecified parts. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T09:52:31Z biological_process owl:Class HP:0032382 biolink:NamedThing Uniparental disomy Inheritance of both homologues of a chromosome pair from the same parent. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 14:58:52+00:00 UPD may comprise the whole chromosome, or just part of it (segmental UPD). Isodisomy is presented as 2 copies from the same chromosome of a parent, and heterodisomy is presented as 1 copy of each of the 2 homologues from the same parent. UPD is related to abnormalities formed during meiosis, fertilization, and mitosis. There are 5 different mechanisms that explain the etiology of UPD, including Trisomic rescue; Nullisomic gamete complementation; Monosomic rescue; Mitotic aberrations; and Structural chromosome aberrations. If prenatal genetic analysis reveals a homologous robertsonian translocation, the risk of fetal UPD is very high, and a marker chromosome or chromosome aneuploidy can be associated with UPD. peter owl:Class UBERON:0003360 biolink:NamedThing epithelium of parotid gland An epithelium that is part of a parotid gland [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl parotid gland duct epithelium|parotid gland epithelial tissue|parotid epithelium|epithelial tissue of parotid gland|epithelium of parotid|parotid epithelial tissue|epithelium of parotid gland|parotid gland epithelium VHOG:0001434|BTO:0004555|EMAPA:18538 uberon owl:Class UBERON:0004809 biolink:NamedThing salivary gland epithelium An epithelium that is part of a salivary gland [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of salivary gland|epithelium of salivary gland|salivary gland epithelial tissue BTO:0004421|MA:0001587|EMAPA:32816|CALOHA:TS-2067 uberon owl:Class UBERON:0002239 biolink:NamedThing floating rib A rib that is not connected to sternum or sternal cartilage. tmpxe7fu0cj_hp_relaxed.owl costae fluitantes|free rib|vertebral rib|costa fluitante|costae fluctuantes OpenCyc:Mx4rvaPCWZwpEbGdrcN5Y29ycA|EMAPA:37494|FMA:7595|MA:0001399 http://upload.wikimedia.org/wikipedia/commons/f/f7/Skeleton_woman_back.png uberon owl:Class We synonymize 'free rib' with 'floating rib' - this case it referes to caudal ribs, but you can have free ribs (i.e. non-attached ventrally) in other places . Should we just synonymize this with 'floating rib'? see Primate Anatomy: An Introduction by Friderun Ankel-Simons pg. 275 UBERON:0002238 biolink:NamedThing false rib A rib that is not directly ventrally connected to the sternum. tmpxe7fu0cj_hp_relaxed.owl asternal ribs|costae spuriae|costa spuria OpenCyc:Mx4rwLzzTZwpEbGdrcN5Y29ycA|FMA:7594|MA:0001398|EMAPA:37493 http://upload.wikimedia.org/wikipedia/commons/3/3d/Gray115.png uberon owl:Class UBERON:0000926 biolink:NamedThing mesoderm The middle germ layer of the embryo, between the endoderm and ectoderm. tmpxe7fu0cj_hp_relaxed.owl entire mesoderm|mesodermal mantle|embryonic mesoderm EV:0100006|EMAPA:16083|TAO:0000041|EHDAA:160|MAT:0000174|UMLS:C0025485|EHDAA2:0001128|EHDAA:183|NCIT:C12750|Wikipedia:Mesoderm|BILA:0000037|EHDAA:124|EFO:0001981|FMA:69072|FBbt:00000126|CALOHA:TS-0623|VHOG:0000152|XAO:0000050|MESH:A16.254.425.660|MIAA:0000174|GAID:522|ZFA:0000041|SCTID:362854004|BTO:0000839|AAO:0000304 http://upload.wikimedia.org/wikipedia/commons/e/e8/Mesoderm.png UBERON:0003263 uberon owl:Class Primary germ layer that is the middle of the embryonic germ layers.[AAO] The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG] mesodermal sponges do not seem to have a mesoderm and accordingly Amphimedon lacks transcription factors involved in mesoderm development (Fkh, Gsc, Twist, Snail)[http://www.nature.com/nature/journal/v466/n7307/full/nature09201.html]. Mesoderm may not be homologous across verteberates UBERON:0000923 biolink:NamedThing germ layer A layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation. The three types of germ layers are the endoderm, ectoderm, and mesoderm. tmpxe7fu0cj_hp_relaxed.owl primary germ layer|germinal layer|embryonic germ layer|embryonic tissue|embryonic germ layers UMLS:C0920502|TAO:0001122|EMAPA:36033|FBbt:00000110|UMLS:C1708239|Wikipedia:Germ_layer|AAO:0000480|BTO:0000556|ZFA:0001122|XAO:0003011|NCIT:C12950|MESH:A16.254.425|GAID:1303|NCIT:C54105|BILA:0000035|VHOG:0001223|FMA:69069 Classically the germ layers are ectoderm, mesoderm and endoderm. Alternatively: primary = ectoderm, endoderm; secondary=mesoderm; tertiary=dorsal mesoderm, NC[https://github.com/obophenotype/uberon/wiki/The-neural-crest] uberon owl:Class The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG] UBERON:0001578 biolink:NamedThing orbicularis oculi muscle A circumorbital muscle in the face that closes the eyelid[HP]. tmpxe7fu0cj_hp_relaxed.owl musculus orbicularis oculi|tensor tarsi|orbicularis oculi FMA:46779|NCIT:C52886|UMLS:C0224122|EMAPA:35619|MA:0001254 It arises from the nasal part of the frontal bone, from the frontal process of the maxilla in front of the lacrimal groove, and from the anterior surface and borders of a short fibrous band, the medial palpebral ligament. From this origin, the fibers are directed lateralward, forming a broad and thin layer, which occupies the eyelids or palpebræ, surrounds the circumference of the orbit, and spreads over the temple, and downward on the cheek. The palpebral portion of the muscle is thin and pale; it arises from the bifurcation of the medial palpebral ligament, forms a series of concentric curves, and is inserted into the lateral palpebral raphé. The orbital portion is thicker and of a reddish color; its fibers form a complete ellipse without interruption at the lateral palpebral commissure; the upper fibers of this portion blend with the Frontalis and Corrugator. The lacrimal part (Tensor tarsi) is a small, thin muscle, about 6 mm. in breadth and 12 mm. in length, situated behind the medial palpebral ligament and lacrimal sac. It arises from the posterior crest and adjacent part of the orbital surface of the lacrimal bone, and passing behind the lacrimal sac, divides into two slips, upper and lower, which are inserted into the superior and inferior tarsi medial to the puncta lacrimalia; occasionally it is very indistinct. [WP,unvetted]. [Wikipedia:Orbicularis_oculi_muscle] http://upload.wikimedia.org/wikipedia/commons/e/e2/Gray379.png uberon owl:Class GO:0060788 biolink:NamedThing ectodermal placode formation The developmental process in which an ectodermal placode forms. An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm. tmpxe7fu0cj_hp_relaxed.owl dph 2009-08-04T12:15:57Z biological_process owl:Class HP:0012126 biolink:NamedThing Stomach cancer A cancer arising in any part of the stomach. tmpxe7fu0cj_hp_relaxed.owl Gastric cancer UMLS:C0699791|SNOMEDCT_US:372143007 hecht 2012-09-16T06:45:29Z human_phenotype owl:Class GO:1900142 biolink:NamedThing negative regulation of oligodendrocyte apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of oligodendrocyte apoptotic process. tmpxe7fu0cj_hp_relaxed.owl down-regulation of oligodendrocyte apoptotic process|down regulation of oligodendrocyte apoptotic process|down-regulation of oligodendrocyte apoptosis|inhibition of oligodendrocyte apoptotic process|down regulation of oligodendrocyte apoptosis|negative regulation of oligodendrocyte apoptosis|inhibition of oligodendrocyte apoptosis|downregulation of oligodendrocyte apoptosis|downregulation of oligodendrocyte apoptotic process yaf 2012-03-06T10:22:50Z biological_process owl:Class HP:0031993 biolink:NamedThing Hoffmann sign A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test. tmpxe7fu0cj_hp_relaxed.owl Hoffmann's sign 2018-07-15 18:58:09+00:00 The Hoffmann sign is regarded to be test for disease of the corticospinal pathways. peter owl:Class HP:0007256 biolink:NamedThing Abnormal pyramidal sign Functional neurological abnormalities related to dysfunction of the pyramidal tract. tmpxe7fu0cj_hp_relaxed.owl Pyramidal signs|Corticospinal signs|Pyramidal tract signs SNOMEDCT_US:14648003|UMLS:C0234132 Presence of these signs can indicate affection of the corticospinal (pyramidal) tracts. HP:0007225|HP:0007161|HP:0007347|HP:0007275|HP:0007324|HP:0003488 owl:Class GO:0030334 biolink:NamedThing regulation of cell migration Any process that modulates the frequency, rate or extent of cell migration. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0042695 biolink:NamedThing thelarche The beginning of development of the breasts in the female. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Thelarche biological_process owl:Class GO:0046543 biolink:NamedThing development of secondary female sexual characteristics The process whose specific outcome is the progression of the secondary female sexual characteristics over time, from their formation to the mature structures. In female humans, these include growth of axillary and pubic hair, breast development and menstrual periods. Their development occurs in response to sex hormone secretion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1902105 biolink:NamedThing regulation of leukocyte differentiation Any process that modulates the frequency, rate or extent of leukocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of leucocyte differentiation|regulation of immune cell differentiation pr 2013-05-02T17:32:42Z biological_process owl:Class UBERON:0001451 biolink:NamedThing navicular bone of pes The oval-shaped tarsal bone found between the talus and the 3 cuneiform bones. tmpxe7fu0cj_hp_relaxed.owl central tarsal bone|centrale (hind)|navicular bone of foot|os naviculare|navicular of foot|centrale|os naviculare pedis|os tarsi centrale|navicular|navicular of pes UMLS:C0223947|OpenCyc:Mx4rv67esJwpEbGdrcN5Y29ycA|galen:Navicular|FMA:24499|MA:0001349|AAO:0000924|BTO:0002356|EMAPA:36180|NCIT:C33162 http://upload.wikimedia.org/wikipedia/commons/8/81/Gray276.png uberon owl:Class Oval tarsal element that is located on the center of the mesopodium. It articulates with all other elements of the tarsus except tarsal 5.[AAO] connections vary depending on species. AAO: Oval tarsal element that is located on the center of the mesopodium. It articulates with all other elements of the tarsus except tarsal 5. In humans: there is a cuboid instead of distal tarsal 4 and 5 - may articulate laterally with the cuboid UBERON:0012131 biolink:NamedThing centrale Endochondral bone located between the proximal and distal rows of carpals or tarsals and thus representing the central carpals or tarsals[PHENOSCAPE]. tmpxe7fu0cj_hp_relaxed.owl os centrale|central mesopodium bone|centralia EMAPA:36170|FMA:77232 This term corresponds both to the navicular bone in the pes and the similar central carpals in the manus uberon owl:Class the FMA term is under 'general anatomical term'. HP:0000973 biolink:NamedThing Cutis laxa Wrinkled, redundant, inelastic and sagging skin. tmpxe7fu0cj_hp_relaxed.owl Cutaneous laxity|Lax skin|Skin laxity|Loose skin|Chalazoderma|Dermatochalasia|Inelastic skin|Hypoelastic skin|Generalized elastolysis|Hanging skin|Loose and inelastic skin|Elastolysis|Generalised elastolysis|Dermatomegaly UMLS:C2930812|MSH:D003483|SNOMEDCT_US:58588007|UMLS:C0010495|MSH:C531660|UMLS:C4280606 human_phenotype owl:Class GO:0017148 biolink:NamedThing negative regulation of translation Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. tmpxe7fu0cj_hp_relaxed.owl inhibition of protein biosynthetic process|negative regulation of protein anabolism|negative regulation of protein biosynthesis|down regulation of protein biosynthetic process|protein biosynthesis inhibitor activity|negative regulation of protein biosynthetic process|down-regulation of protein biosynthetic process|negative regulation of protein synthesis|negative regulation of protein formation|downregulation of protein biosynthetic process|protein biosynthetic process inhibitor activity GO:0016478 biological_process owl:Class GO:0032269 biolink:NamedThing negative regulation of cellular protein metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. tmpxe7fu0cj_hp_relaxed.owl downregulation of cellular protein metabolic process|inhibition of cellular protein metabolic process|negative regulation of cellular protein metabolism|down regulation of cellular protein metabolic process|down-regulation of cellular protein metabolic process biological_process owl:Class PATO:0001921 biolink:NamedThing mislocalised anteriorly A positional quality inhering in a bearer by virtue of the bearer's being positioned towards the front of an organism. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0000628 biolink:NamedThing mislocalised A positional quality inhering in a bearer by virtue the bearer's being changed in abnormal position. tmpxe7fu0cj_hp_relaxed.owl ectopic|mislocalized PATO:0000621 quality owl:Class UBERON:0000114 biolink:NamedThing lung connective tissue The connective tissue located between the respiratory (airway and alveolar) epithelium, the capillary endothelium and pleural mesothelium; it contains basement membrane composed of collagen, elastin, proteoglycans, and fibronectin. tmpxe7fu0cj_hp_relaxed.owl lung interstitium|pulmonary interstitial tissue|lung interstitial tissue|pulmonary connective tissue|connective tissue of lung|pulmonary interstitium SCTID:201609008|EMAPA:35521|FMA:27533|MA:0001782 uberon owl:Class it functions in the mechanical behavior of the lung, and forms a barrier to regulate the flow of plasma constituents from the capillaries to the airway and alveolar spaces HP:0011231 biolink:NamedThing Prominent eyelashes Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly. tmpxe7fu0cj_hp_relaxed.owl Thick eyelashes|Prominent eyelashes UMLS:C4023450|UMLS:C1835802 peter 2011-12-14T08:31:24Z human_phenotype owl:Class HP:0000499 biolink:NamedThing Abnormal eyelash morphology An abnormality of the eyelashes. tmpxe7fu0cj_hp_relaxed.owl Eyelash abnormality|Abnormal eyelashes|Abnormality of the eyelashes UMLS:C2675111 HP:0004530 human_phenotype owl:Class UBERON:0004409 biolink:NamedThing distal epiphysis of phalanx of manus A distal epiphysis that is part of a phalanx of manus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl head of phalanx of hand|distal epiphysis of phalanx of finger|ungual tuberosity of distal phalanx of finger|head of phalanx of finger|distal end of phalanx of hand|distal epiphysis of phalanx of hand FMA:226577 uberon owl:Class HP:0031042 biolink:NamedThing Strawberry tongue Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry. tmpxe7fu0cj_hp_relaxed.owl Raspberry tongue 2017-05-27 13:34:44+00:00 peter owl:Class UBERON:0018149 biolink:NamedThing angle of oral opening tmpxe7fu0cj_hp_relaxed.owl angle of mouth|mouth angle MFMO:0000145|FMA:77269 Serves as attachment site for zygomaticus major muscle uberon owl:Class HP:0500212 biolink:NamedThing Increased CSF threonine concentration Abnormally increased levels of threonine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High threonine levels in cerebrospinal fluid 2019-02-25 19:09:32+00:00 owl:Class HP:0500211 biolink:NamedThing Abnormal CSF threonine concentration Any deviation from the normal concentration of threonine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal threonine levels in cerebrospinal fluid 2019-02-25 19:08:53+00:00 owl:Class GO:0021704 biolink:NamedThing locus ceruleus morphogenesis The process in which the anatomical structure of the locus ceruleus is generated and organized. In mice, the locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0003039 biolink:NamedThing anterior commissure anterior part The horseshoe-shaped tract that connects the two olfactory bulbs. tmpxe7fu0cj_hp_relaxed.owl pars anterior commissurae anterioris|anterior part of anterior commissure|pars olfactoria commissurae anterioris|anterior commissure, anterior part|anterior commissure olfactory limb|commissura anterior, crus anterius|anterior commissure pars anterior|anterior commissure, olfactory limb|olfactory part of anterior commissure|pars anterior|olfactory limb of anterior commissure|commissura anterior, pars anterior|commissura anterior, pars olfactoria|commissura rostralis, pars anterior FMA:61963|BAMS:aca|BIRNLEX:969|BAMS:aco|EMAPA:37404|MBA:900 uberon owl:Class UBERON:0003696 biolink:NamedThing metatarsophalangeal joint The metatarsophalangeal articulations are the joints between the metatarsal bones of the foot and the proximal bones of the toes . They are condyloid joints meaning an elliptical or rounded surface (of the metatarsal bones) come close to the shallow cavities (of the proximal phalanges). The ligaments are the plantar and two collateral. tmpxe7fu0cj_hp_relaxed.owl metatarsal-phalangeal joint|metatarsalphalangeal joint|metatarsophalangeal|articulationes metatarsophalangeae|metatarsal joint|metatarsophalangeal articulation galen:MetatarsoPhalangealJoint|MESH:D008683|FMA:35222|NCIT:C33108|UMLS:C0025589|OpenCyc:Mx4rwCtS0pwpEbGdrcN5Y29ycA|GAID:258 http://upload.wikimedia.org/wikipedia/commons/9/9e/Gray268.png we follow FMA in making these joints part of digits http://purl.bioontology.org/ontology/provisional/1ddd2e2d-2ace-4c87-8ec6-d3b5730b3e7c|http://purl.bioontology.org/ontology/provisional/8378426c-67ca-4bab-a9cf-531093b9b95e uberon owl:Class HP:0033795 biolink:NamedThing Growth without growth hormone tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 11:28:27+00:00 Growth hormone (GH) is essential for normal growth. However, cases of normal growth without GH may occur. The mechanism of growth without GH remains still unclear. However, regarding normal growth without GH arising after brain surgery, hypothalamic damage caused by the brain surgery is thought to induce obesity, and the resulting hyperinsulinemia and/or hyperprolactinemia are assumed to be important mechanisms of normal growth without GH in postsurgery patients. It is assumed that elevated insulin and/or prolactin concentration normalize IGF-1 levels even in GHD patients, restricts the increase in serum levels of IGFBP-3, and changes the distribution of circulating IGF-1. Thus, normal growth without GH continues because of the effects of IFG-I, which are independent of GH. peter owl:Class GO:0043500 biolink:NamedThing muscle adaptation A process in which muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. These adaptive events occur in both muscle fibers and associated structures (motoneurons and capillaries), and they involve alterations in regulatory mechanisms, contractile properties and metabolic capacities. tmpxe7fu0cj_hp_relaxed.owl muscle plasticity biological_process owl:Class HP:0011068 biolink:NamedThing Odontoma The presence of an odontoma. tmpxe7fu0cj_hp_relaxed.owl Odontomas MSH:D009810|SNOMEDCT_US:79074005|UMLS:C0028882 MPATH defines odontoma as a hamartomatous malformation of odontogenic tissue. It may vary from nondescript masses of dental tissue (complex odontoma) to multiple well-formed teeth (compound odontoma). peter 2011-03-10T02:40:52Z human_phenotype owl:Class HP:0030782 biolink:NamedThing Abnormal serum interleukin level An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal serum IL level UMLS:C4280772 owl:Class HP:0011112 biolink:NamedThing Abnormality of serum cytokine level Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023535|MP:0010210 peter 2011-06-12T09:03:40Z human_phenotype owl:Class UBERON:0002085 biolink:NamedThing interatrial septum A cardiac septum that divides the left and right atria of the heart. tmpxe7fu0cj_hp_relaxed.owl interatrial septal wall|atrial septum|atrium septum EHDAA2:0000838|NCIT:C32818|SCTID:362016003|EHDAA:1896|VHOG:0000385|OpenCyc:Mx4rpd49nLYEEduAAAACs2IKfQ|FMA:7108|galen:InteratrialSeptum|UMLS:C0225836|Wikipedia:Interatrial_septum|OpenCyc:Mx4rwGvku5wpEbGdrcN5Y29ycA|EMAPA:17011|MA:0000084 http://upload.wikimedia.org/wikipedia/commons/6/6c/Gray493.png uberon owl:Class The partition separating the right and left atria of the heart. [TFD][VHOG] The tetrapod clade develops a complete atrial septum and loses the fifth aortic arch altogether.[well established][VHOG] UBERON:0010052 biolink:NamedThing mucosa of dorsum of tongue A mucosa that is part of a dorsum of tongue. tmpxe7fu0cj_hp_relaxed.owl mucosa of dorsal surface of tongue SCTID:245835003|FMA:74871 check surface terms uberon owl:Class develops fungiform papillae by WNT induction at 11 weeks pc in human. Filiform papillae develop later. ISBN:1607950324 UBERON:0005020 biolink:NamedThing mucosa of tongue A mucosa that is part of a tongue [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucous membrane of tongue|organ mucosa of tongue|tongue mucosa|tunica mucosa linguae|tongue mucous membrane|tongue organ mucosa|tongue mucosa of organ|lingual mucosa|mucosa of organ of tongue SCTID:362092002|EFO:0002553|FMA:54807 uberon owl:Class CHEBI:31011 biolink:NamedThing valerate A short-chain fatty acid anion that is the conjugate base of valeric acid; present in ester form as component of many steroid-based pharmaceuticals. tmpxe7fu0cj_hp_relaxed.owl pentanoic acid, ion(1-)|CH3-[CH2]3-COO(-)|pentanoate|n-propylacetate -1 C5H9O2 InChI=1S/C5H10O2/c1-2-3-4-5(6)7/h2-4H2,1H3,(H,6,7)/p-1 NQPDZGIKBAWPEJ-UHFFFAOYSA-M 101.12376 101.06080 CCCCC([O-])=O Gmelin:325619|PMID:18783570|Reaxys:3903735|CAS:10023-74-2|PMID:17314444|Beilstein:3903735 CHEBI:14751|CHEBI:25890 chebi_ontology owl:Class HP:0100450 biolink:NamedThing Curved distal phalanx of the 4th toe A deviation from the normal straight form of the distal phalanx of the fourth toe. tmpxe7fu0cj_hp_relaxed.owl Curved outermost bone of the 4th toe UMLS:C4022077 human_phenotype owl:Class GO:0008652 biolink:NamedThing cellular amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents. tmpxe7fu0cj_hp_relaxed.owl cellular amino acid anabolism|cellular amino acid biosynthesis|cellular amino acid formation|cellular amino acid synthesis|amino acid biosynthetic process Wikipedia:Amino_acid_synthesis biological_process owl:Class GO:0006520 biolink:NamedThing cellular amino acid metabolic process The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl amino acid and derivative metabolism|cellular amino acid and derivative metabolic process|cellular amino acid metabolism|amino acid metabolic process GO:0006519 biological_process owl:Class HP:0009719 biolink:NamedThing Hypomelanotic macule Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis. tmpxe7fu0cj_hp_relaxed.owl Hypomelanotic macules UMLS:C4024220 While hypopigmentation is a general term that refers to any form of decreased or absent skin pigmentation, hypomelanosis more specifically refers to a reduction of epidermal melanin. peter 2009-01-31T12:16:52Z human_phenotype owl:Class HP:0001010 biolink:NamedThing Hypopigmentation of the skin A reduction of skin color related to a decrease in melanin production and deposition. tmpxe7fu0cj_hp_relaxed.owl Skin hypopigmentation|Hypopigmentation|Hypopigmented skin|Patchy lightened skin SNOMEDCT_US:201284005|SNOMEDCT_US:18655006|UMLS:C0162835|MSH:D017496|SNOMEDCT_US:23006000|SNOMEDCT_US:89031001 HP:0007622|HP:0007604|HP:0005589 human_phenotype owl:Class GO:0006537 biolink:NamedThing glutamate biosynthetic process The chemical reactions and pathways resulting in the formation of glutamate, the anion of 2-aminopentanedioic acid. tmpxe7fu0cj_hp_relaxed.owl glutamic acid biosynthesis|glutamate synthesis|glutamate formation|glutamate biosynthesis|glutamate biosynthetic process, using glutamate synthase (NADPH)|glutamic acid biosynthetic process|glutamate anabolism|glutamate biosynthesis, using glutamate dehydrogenase (NAD(P)+)|glutamate biosynthesis, using glutamate synthase (NADPH)|glutamate biosynthetic process, using glutamate dehydrogenase (NAD(P)+) biological_process owl:Class GO:0033692 biolink:NamedThing cellular polysaccharide biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0034645 biolink:NamedThing cellular macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl cellular biopolymer biosynthetic process|cellular macromolecule formation|cellular macromolecule synthesis|cellular macromolecule biosynthesis|cellular macromolecule anabolism GO:0034961 biological_process owl:Class GO:0001990 biolink:NamedThing regulation of systemic arterial blood pressure by hormone tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0003044 biolink:NamedThing regulation of systemic arterial blood pressure mediated by a chemical signal tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0001994 biolink:NamedThing Renal Fanconi syndrome An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. tmpxe7fu0cj_hp_relaxed.owl Renal tubular fanconi syndrome|'de toni-fanconi-debre' syndrome MSH:D005198|SNOMEDCT_US:236468006|SNOMEDCT_US:44673006|UMLS:C0341703 human_phenotype owl:Class UBERON:0006862 biolink:NamedThing diaphysis of femur A diaphysis that is part of a femur[Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl femoral shaft|corpus femoris|shaft of femur|femoral diaphysis|body of femur NCIT:C96209|MA:0003055|FMA:32847|EMAPA:37538 http://upload.wikimedia.org/wikipedia/commons/2/2b/Gray244.png uberon owl:Class The body of the femur (or shaft), almost cylindrical in form, is a little broader above than in the center, broadest and somewhat flattened from before backward below. It is slightly arched, so as to be convex in front, and concave behind, where it is strengthened by a prominent longitudinal ridge, the linea aspera. It presents for examination three borders, separating three surfaces. Of the borders, one, the linea aspera, is posterior, one is medial, and the other, lateral[Wikipedia:Body_of_femur]. PATO:0015007 biolink:NamedThing prominence A quality inhering in a bearer by virtue of the degree to which the bearers stands out or projects beyond a surface or line. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0033875 biolink:NamedThing Abnormal arcuate vein lumen morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 19:25:35+00:00 peter owl:Class HP:0033853 biolink:NamedThing Abnormal arcuate vein morphology Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla). tmpxe7fu0cj_hp_relaxed.owl 2021-06-02 18:55:40+00:00 peter owl:Class HP:0100651 biolink:NamedThing Type I diabetes mellitus A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. tmpxe7fu0cj_hp_relaxed.owl Insulin-dependent diabetes mellitus|Juvenile diabetes mellitus|Type I diabetes|Diabetes mellitus Type I|Type 1 diabetes SNOMEDCT_US:46635009|UMLS:C0011854|MSH:D003922 The onset of type 1 diabetes is typically during adolescence, but it can develop at any age. doelkens 2010-12-29T06:37:55Z human_phenotype owl:Class GO:0009084 biolink:NamedThing glutamine family amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. tmpxe7fu0cj_hp_relaxed.owl glutamine family amino acid synthesis|glutamine family amino acid biosynthesis|glutamine family amino acid anabolism|glutamine family amino acid formation biological_process owl:Class GO:0009064 biolink:NamedThing glutamine family amino acid metabolic process The chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. tmpxe7fu0cj_hp_relaxed.owl glutamine family amino acid metabolism biological_process owl:Class UBERON:0010230 biolink:NamedThing eyeball of camera-type eye The core globe-shaped component of the camera-type eye. tmpxe7fu0cj_hp_relaxed.owl eye globe|globe|eye|eyeball|bulbus oculi VHOG:0001616|SCTID:244486005|Wikipedia:Globe_(human_eye)|MIAA:0000283|FMA:12513 See notes for camera-type eye uberon owl:Class CHEBI:50906 biolink:NamedThing role A role is particular behaviour which a material entity may exhibit. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:32816 biolink:NamedThing pyruvic acid A 2-oxo monocarboxylic acid that is the 2-keto derivative of propionic acid. It is a metabolite obtained during glycolysis. tmpxe7fu0cj_hp_relaxed.owl CH3COCOOH|Acetylformic acid|2-Oxopropanoic acid|2-ketopropionic acid|acetylformic acid|2-Oxopropionsaeure|PYRUVIC ACID|acide pyruvique|Pyroracemic acid|Pyruvic acid|alpha-Oxopropionsaeure|pyruvic acid|2-oxopropanoic acid|2-Oxopropansaeure|alpha-ketopropionic acid|BTS|Brenztraubensaeure 0 C3H4O3 InChI=1S/C3H4O3/c1-2(4)3(5)6/h1H3,(H,5,6) LCTONWCANYUPML-UHFFFAOYSA-N 88.06206 88.01604 CC(=O)C(O)=O KNApSAcK:C00001200|PMID:22150460|DrugBank:DB00119|Reaxys:506211|LIPID_MAPS_instance:LMFA01060077|KEGG:C00022|Gmelin:101087|PMID:19260671|Wikipedia:Pyruvic_acid|YMDB:YMDB00175|MetaCyc:PYRUVATE|PMID:22233273|HMDB:HMDB0000243|PMID:22770225|ECMDB:ECMDB00243|Beilstein:506211|PDBeChem:PYR|CAS:127-17-3|PMID:22735334|PMID:11762589 CHEBI:45253|CHEBI:8685|CHEBI:26466 chebi_ontology owl:Class CHEBI:35910 biolink:NamedThing 2-oxo monocarboxylic acid Any monocarboxylic acid having a 2-oxo substituent. tmpxe7fu0cj_hp_relaxed.owl 2-Oxocarboxylate|2-oxo acid|2-oxo carboxylic acids|2-oxo monocarboxylic acids|2-Oxo acid 0 C2HO3R 73.02750 72.99257 OC(=O)C([*])=O KEGG:C00161 CHEBI:1238|CHEBI:13195|CHEBI:13594|CHEBI:11634|CHEBI:35909|CHEBI:19736 chebi_ontology owl:Class HP:0008461 biolink:NamedThing Cervical vertebral facet hypoplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024673 human_phenotype owl:Class HP:0011041 biolink:NamedThing Aplasia/Hypoplasia of the cervical spine Aplasia or developmental hypoplasia of the cervical vertebral column. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped cervical spine|Absent/small cervical spine UMLS:C4023576 peter 2011-03-09T08:29:34Z human_phenotype owl:Class CHEBI:28616 biolink:NamedThing carbamic acid A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised. tmpxe7fu0cj_hp_relaxed.owl CARBAMIC ACID|Carbamate|Aminoformic acid|Carbamidsaeure|Carbamic acid|Aminoameisensaeure|carbamic acid 0 CH3NO2 InChI=1S/CH3NO2/c2-1(3)4/h2H2,(H,3,4) KXDHJXZQYSOELW-UHFFFAOYSA-N 61.04006 61.01638 NC(O)=O Wikipedia:Carbamic_acid|PDBeChem:OUT|KEGG:C01563|Beilstein:1734754|CAS:463-77-4|DrugBank:DB04261|Gmelin:130345 CHEBI:23002|CHEBI:3386|CHEBI:44573|CHEBI:22504 chebi_ontology owl:Class GO:1903531 biolink:NamedThing negative regulation of secretion by cell Any process that stops, prevents or reduces the frequency, rate or extent of secretion by cell. tmpxe7fu0cj_hp_relaxed.owl inhibition of secretion by cell|inhibition of cellular secretion|down regulation of secretion by cell|down-regulation of secretion by cell|down regulation of cellular secretion|down-regulation of cellular secretion|downregulation of secretion by cell|negative regulation of cellular secretion|downregulation of cellular secretion pm 2014-10-08T13:25:08Z biological_process owl:Class CHEBI:35391 biolink:NamedThing aspartate(1-) An alpha-amino-acid anion that is the conjugate base of aspartic acid. tmpxe7fu0cj_hp_relaxed.owl aspartic acid monoanion|2-ammoniosuccinate|aspartate(1-)|hydrogen aspartate|2-ammoniobutanedioate -1 C4H6NO4 InChI=1S/C4H7NO4/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H,6,7)(H,8,9)/p-1 CKLJMWTZIZZHCS-UHFFFAOYSA-M 132.09478 132.03023 [NH3+]C(CC([O-])=O)C([O-])=O CHEBI:22659|CHEBI:29992 chebi_ontology owl:Class UBERON:0005012 biolink:NamedThing mucosa of left uterine tube A mucosa that is part of a left uterine tube [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucosa of organ of left oviduct|left fallopian tube mucosa of organ|left uterine tube mucosa|organ mucosa of left uterine tube|left fallopian tube mucosa|mucous membrane of left uterine tube|left uterine tube organ mucosa|mucosa of left oviduct|mucosa of organ of left fallopian tube|left uterine tube mucous membrane|left oviduct mucosa|left oviduct organ mucosa|left fallopian tube mucous membrane|left fallopian tube organ mucosa|mucosa of organ of left uterine tube|left oviduct mucosa of organ|mucous membrane of left oviduct|left oviduct mucous membrane|left uterine tube mucosa of organ|organ mucosa of left fallopian tube|organ mucosa of left oviduct|mucosa of left fallopian tube|mucous membrane of left fallopian tube FMA:18453 uberon owl:Class HP:0010234 biolink:NamedThing Ivory epiphyses of the phalanges of the hand Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the hand bones|Sclerotic ivory phalangeal epiphyses|Ivory epiphyses of the fingers UMLS:C1857651 doelkens 2009-07-06T03:31:52Z HP:0009365|HP:0001210 human_phenotype owl:Class HP:0100899 biolink:NamedThing Sclerosis of finger phalanx An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the finger bone|Sclerosis of the phalanges of the hand UMLS:C4020941 doelkens 2011-12-02T09:34:05Z human_phenotype owl:Class CHEBI:24261 biolink:NamedThing glucocorticoid Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. tmpxe7fu0cj_hp_relaxed.owl glucocorticoids chebi_ontology owl:Class UBERON:0002304 biolink:NamedThing layer of dentate gyrus One of the three layers of the dentate gyrus of the hippocampal formation. tmpxe7fu0cj_hp_relaxed.owl dentate gyrus cell layer|dentate gyrus layer FMA:83678|MA:0002429|EMAPA:35278 uberon owl:Class the basic trilaminar structure of the dentate gyrus is common across all species studied, with relatively minimal phylogenetic variation[PMC2492885] HP:0030430 biolink:NamedThing Neuroma A tumor made up of nerve cells and nerve fibers. tmpxe7fu0cj_hp_relaxed.owl Nerve tumour|Nerve tumor|Pinched nerve SNOMEDCT_US:84116009|SNOMEDCT_US:25169009|MSH:D009463|UMLS:C0027858|UMLS:C0273482|SNOMEDCT_US:443892003|SNOMEDCT_US:274089002 owl:Class UBERON:0001234 biolink:NamedThing left adrenal gland An adrenal gland that is in the left side of the abdomen. tmpxe7fu0cj_hp_relaxed.owl left suprarenal gland|glandula suprarenalis sinister EMAPA:37356|FMA:15630|UMLS:C0229560|NCIT:C49322|MA:0000718 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern In humans, the left adrenal gland is semilunar shaped UBERON:0002369 biolink:NamedThing adrenal gland Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]. tmpxe7fu0cj_hp_relaxed.owl epinephric gland|glandula adrenalis|suprarenal capsule|adrenal|glandula suprarenalis|adrenal medulla cell|interrenal gland|adrenal capsule|suprarenal gland|atrabiliary capsule|epinephros GAID:446|galen:AdrenalGland|BTO:0000047|EMAPA:18426|UMLS:C0001625|XAO:0000164|FMA:9604|NCIT:C12666|MAT:0000071|EV:0100135|MIAA:0000071|CALOHA:TS-0016|OpenCyc:Mx4rvXYiz5wpEbGdrcN5Y29ycA|EFO:0000238|MA:0000116|AAO:0010551|MESH:D000311|VHOG:0001141 http://upload.wikimedia.org/wikipedia/commons/9/9d/Illu_endocrine_system_New.png|http://upload.wikimedia.org/wikipedia/commons/c/c6/Illu_endocrine_system.jpg uberon owl:Class Anatomical structure which is found on the surface of the kidney and secretes various hormones including epinephrine, norephinephrine, aldosterone, corticosterone, and cortisol.[AAO] All craniates have groups of cells homologous to the mammalian adrenocortical and chromaffin tissues, but they are scattered in and near the kidneys in fishes. (...) The cortical and chromaffin tissues come together to form adrenal glands in tetrapods.[well established][VHOG] The origin of the adrenal gland is still controversial. It is thought to share the same origin as the kidney and gonads, derived from coelomic epithelium of the urogenital ridge and/or the underlying mesenchyme (Keegan and Hammer, 2002; Morohashi, 1997). We follow Kardong and state homology at the level of the cortex and medulla rather than gland as a whole suprarenal cortex manufactures corticosteroids; suprarenal medulla manufactures epinephrine and norepinephrine; suprarenal medulla receives preganglionic sympathetic innervation from the greater thoracic splanchnic n. GO:0055010 biolink:NamedThing ventricular cardiac muscle tissue morphogenesis The process in which the anatomical structures of cardiac ventricle muscle is generated and organized. tmpxe7fu0cj_hp_relaxed.owl cardiac ventricle muscle morphogenesis|ventricular heart muscle morphogenesis biological_process owl:Class UBERON:0006919 biolink:NamedThing tongue squamous epithelium A squamous epithelium that is part of a tongue. tmpxe7fu0cj_hp_relaxed.owl squamous epithelium of tongue MA:0002786 uberon owl:Class this is a singleton subclass of tongue epithelium in MA UBERON:0003357 biolink:NamedThing epithelium of tongue An epithelium that is part of a tongue [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lingual epithelium|epithelial tissue of tongue|tongue epithelial tissue|tongue epithelium CALOHA:TS-1051|EMAPA:17881|NCIT:C49300|BTO:0000992|EHDAA2:0004598|UMLS:C1710436|MA:0001592|FMA:284658 examples: tongue squamous epithelium, keratined, non-keratinized and parakeratinized epithelium, as well as gustatory epithelium. Note that not all these subtypes are named in individual anatomy ontologies. uberon owl:Class UBERON:0004813 biolink:NamedThing seminiferous tubule epithelium The stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule. tmpxe7fu0cj_hp_relaxed.owl seminiferous tubule epithelial tissue|epithelial tissue of seminiferous tubule|epithelium of seminiferous tubule|male germinal epithelium|epithelial tissue of seminiferous tubule of testis|seminiferous epithelium|epithelium of seminiferous tubule of testis|germinal epithelium (male)|testis germinal epithelium|wall of seminiferous tubule VHOG:0000631|MESH:D012670|RETIRED_EHDAA2:0002009|CALOHA:TS-0920|GAID:401|EHDAA:8148|NCIT:C49296|FMA:19885|MA:0001748|EMAPA:35761|UMLS:C0036629|BTO:0001811 uberon owl:Class UBERON:0034969 biolink:NamedThing epithelial layer of duct tmpxe7fu0cj_hp_relaxed.owl duct epithelium|ductal epithelium NCIT:C25787|UMLS:C1512086 uberon owl:Class UBERON:0007375 biolink:NamedThing roof of mouth A multi-tissue structure consisting of bone and soft tissue that forms a part of the roof of the oral cavity. In mammals this is the combination of the primary palate (premaxilla) and the secondary palate. In early tetrapods it consists of the vomer, pterygoid, parasphenoid, palatine and ectopterygoid bones. tmpxe7fu0cj_hp_relaxed.owl palate|roof of oral cavity|primary or secondary palate|palatum|roof of buccal cavity CALOHA:TS-2212 check subclasses to verify if they refer to a multi-tissue structure or a subdivision of the skeleton uberon owl:Class CHEBI:76928 biolink:NamedThing 2,3-saturated fatty acid(1-) A fatty acid anion obtained by deprotonation of the carboxy group of any 2,3-saturated fatty acid. tmpxe7fu0cj_hp_relaxed.owl 2,3-saturated fatty acid -1 C3H4O2R 72.063 72.02113 [O-]C(=O)CC[*] chebi_ontology owl:Class UBERON:0004249 biolink:NamedThing manual digit bone A bone that is part of a forelimb digit. Typically phalanges but may include sesamoids. tmpxe7fu0cj_hp_relaxed.owl fore limb digit bone|finger bone|hand digit bone|digital bone of hand|digital bone of manus MA:0000622|EMAPA:37305 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Skeleton-partonomy-Design-Pattern UBERON:0012358 biolink:NamedThing manual digitopodium bone A bone that is part of a the manual digitopodium skeleton - i.e. the fingers or the metacarpal skeleton. tmpxe7fu0cj_hp_relaxed.owl bone of forelimb digitopodium uberon owl:Class UBERON:0005388 biolink:NamedThing photoreceptor array An array of photoreceptors and any supporting cells found in an eye. tmpxe7fu0cj_hp_relaxed.owl light-sensitive tissue FBbt:00004200 uberon owl:Class HP:0003855 biolink:NamedThing Spurred metaphyses of the upper limbs tmpxe7fu0cj_hp_relaxed.owl Spurred wide portion of upper limb bone UMLS:C4025550 human_phenotype owl:Class HP:0009809 biolink:NamedThing Abnormality of upper limb metaphysis An anomaly of one or more metaphyses of the arms. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the wide portion of upper limb bone|Metaphyseal abnormality of the upper limbs UMLS:C4021388 doelkens 2009-02-23T04:55:36Z HP:0003847 human_phenotype owl:Class UBERON:0015007 biolink:NamedThing cervical vertebra endochondral element A vertebral endochondral element in the cervical region of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl cervical vertebra element|cervical vertebra skeletal element uberon owl:Class GO:0046325 biolink:NamedThing negative regulation of glucose import Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. tmpxe7fu0cj_hp_relaxed.owl downregulation of glucose import|down-regulation of glucose import|inhibition of glucose import|negative regulation of glucose uptake|down regulation of glucose import biological_process owl:Class GO:0010829 biolink:NamedThing negative regulation of glucose transmembrane transport Any process that decreases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl negative regulation of glucose transport biological_process owl:Class HP:0002866 biolink:NamedThing Hypoplastic iliac wing Underdevelopment of the ilium ala. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic iliac alae|Small iliac wings|Hypoplastic iliac wings UMLS:C1865027 HP:0003169|HP:0008837|HP:0003181 owl:Class HP:0000946 biolink:NamedThing Hypoplastic ilia Underdevelopment of the ilium. tmpxe7fu0cj_hp_relaxed.owl Short and small iliac bones|Small iliac bones|Small wings of the pelvic girdle UMLS:C4280607|UMLS:C1861218 HP:0003176|HP:0003178 human_phenotype owl:Class UBERON:0015180 biolink:NamedThing neck of talus The neck of talus is directed forward and medialward, and comprises the constricted portion of the bone between the body and the oval head. Its upper and medial surfaces are rough, for the attachment of ligaments; its lateral surface is concave and is continuous below with the deep groove for the interosseous talocalcaneal ligament. tmpxe7fu0cj_hp_relaxed.owl collum tali|talar neck|talus neck FMA:33636 uberon owl:Class HP:0006026 biolink:NamedThing Rounded epiphyses tmpxe7fu0cj_hp_relaxed.owl Rounded end part of bone UMLS:C1850632 human_phenotype owl:Class HP:0005924 biolink:NamedThing Abnormality of the epiphyses of the hand Any abnormality of the epiphyses of the phalanges or metacarpal bones. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the epiphyses of the fingers|Abnormality of the end part of the hand bones|Abnormality of the end part of the hand bone|Abnormality of the epiphyses of the phalanges of the hand UMLS:C4025107 peter 2008-03-27T02:28:00Z human_phenotype owl:Class GO:1905555 biolink:NamedThing positive regulation of blood vessel branching Any process that activates or increases the frequency, rate or extent of blood vessel branching. tmpxe7fu0cj_hp_relaxed.owl upregulation of patterning of blood vessels|upregulation of branching involved in blood vessel morphogenesis|activation of patterning of blood vessels|positive regulation of branching involved in blood vessel morphogenesis|up-regulation of patterning of blood vessels|up regulation of branching involved in blood vessel morphogenesis|up regulation of patterning of blood vessels|activation of branching involved in blood vessel morphogenesis|up-regulation of branching involved in blood vessel morphogenesis nc 2016-10-12T14:19:49Z biological_process owl:Class HP:0009234 biolink:NamedThing Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal. tmpxe7fu0cj_hp_relaxed.owl Fused innermost bone of little finger with 5th long bone of hand|Fused innermost bone of pinkie finger with 5th long bone of hand|Fused innermost bone of pinky finger with 5th long bone of hand UMLS:C4024510 doelkens 2009-01-05T06:19:01Z human_phenotype owl:Class HP:0005880 biolink:NamedThing Metacarpophalangeal synostosis Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint. tmpxe7fu0cj_hp_relaxed.owl Fused long bone of hand with innermost finger bone UMLS:C4025117 HP:0100325 owl:Class HP:0009545 biolink:NamedThing Symphalangism of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Fused index finger bones|Symphalangism of index finger phalanges UMLS:C4021446 doelkens 2009-01-21T10:19:34Z HP:0004116 human_phenotype owl:Class HP:0010851 biolink:NamedThing EEG with burst suppression The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969156 Burst suppression can occur in a generalized or lateralized distribution and is often a sign of severe encephalopathy. Generally, an interburst interval of 30 seconds or less is associated with a better prognosis than longer interburst intervals (>30 sec). Burst suppression is an electroencephalogram (EEG) pattern in which high voltage activity (burst) and flatline (suppression) periods alternate systematically but quasiperiodically (almost periodic but with variations in inter- and intra-burst duration) is a state of profound brain inactivation. peter 2010-07-11T08:02:41Z human_phenotype owl:Class GO:1901264 biolink:NamedThing carbohydrate derivative transport The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl bf 2012-08-16T14:51:22Z biological_process owl:Class HP:0032442 biolink:NamedThing Blood group O ABO phenotype O, corresponding to the genotype OO. tmpxe7fu0cj_hp_relaxed.owl 2019-03-03 16:37:48+00:00 peter owl:Class HP:0005506 biolink:NamedThing Chronic myelogenous leukemia A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. tmpxe7fu0cj_hp_relaxed.owl Chronic myelocytic leukaemia|Chronic myeloid leukaemia|Chronic myelocytic leukemia|Chronic myelogenous leukaemia|Chronic myeloid leukemia SNOMEDCT_US:92818009|MSH:D015464|SNOMEDCT_US:63364005|UMLS:C0023473|DOID:8552 HP:0005544 human_phenotype owl:Class HP:0005558 biolink:NamedThing Chronic leukemia A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. tmpxe7fu0cj_hp_relaxed.owl Chronic blood cancer|Chronic leukaemia UMLS:C1279296|UMLS:C4280478|SNOMEDCT_US:128933000|SNOMEDCT_US:92812005 peter 2008-03-27T10:32:00Z human_phenotype owl:Class GO:0010962 biolink:NamedThing regulation of glucan biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:2000112 biolink:NamedThing regulation of cellular macromolecule biosynthetic process Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl regulation of cellular macromolecule formation|regulation of cellular macromolecule anabolism|regulation of cellular macromolecule synthesis|regulation of cellular biopolymer biosynthetic process|regulation of cellular macromolecule biosynthesis tb 2010-09-15T08:55:45Z biological_process owl:Class GO:0002731 biolink:NamedThing negative regulation of dendritic cell cytokine production Any process that stops, prevents, or reduces the frequency, rate, or extent of dendritic cell cytokine production. tmpxe7fu0cj_hp_relaxed.owl inhibition of dendritic cell cytokine production|down-regulation of dendritic cell cytokine production|downregulation of dendritic cell cytokine production|down regulation of dendritic cell cytokine production biological_process owl:Class GO:0002719 biolink:NamedThing negative regulation of cytokine production involved in immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of cytokine production contributing to an immune response. tmpxe7fu0cj_hp_relaxed.owl down regulation of cytokine production during immune response|down-regulation of cytokine production during immune response|inhibition of cytokine production during immune response|negative regulation of cytokine secretion involved in immune response|negative regulation of cytokine biosynthetic process involved in immune response|downregulation of cytokine production during immune response|negative regulation of cytokine production during immune response GO:0002740|GO:0002743 biological_process owl:Class PR:000001898 biolink:NamedThing neprilysin A protein that is a translation product of the human MME gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl neutral endopeptidase 24.11|CALLA|CD10|neutral endopeptidase|atriopeptidase|enkephalinase|SFE|common acute lymphocytic leukemia antigen|skin fibroblast elastase|MME|EPN|NEP PIRSF:PIRSF501074|IUPHARobj:1611 Category=gene. Requested by=CL. protein owl:Class GO:1904178 biolink:NamedThing negative regulation of adipose tissue development Any process that stops, prevents or reduces the frequency, rate or extent of adipose tissue development. tmpxe7fu0cj_hp_relaxed.owl inhibition of adipogenesis|negative regulation of adipogenesis|inhibition of adipose tissue development|down-regulation of adipose tissue development|down regulation of adipose tissue development|down regulation of adipogenesis|down-regulation of adipogenesis|downregulation of adipose tissue development|downregulation of adipogenesis sl 2015-04-29T20:01:07Z biological_process owl:Class UBERON:0035097 biolink:NamedThing iliocaudalis muscle A muscle that attaches to the iliac crest and to a caudal vertebra. tmpxe7fu0cj_hp_relaxed.owl M. iliocaudalis|iliocaudalis uberon owl:Class In anolis, This muscle lies deep to the m. extensor caudae medialis and originates via fleshy fibers from the iliac crest (Fig. 3A,B). It inserts via fleshy fibers onto the horizontal intramuscular septum as well as the chevron bones and dorsal aspect of the transverse processes of Ca3-6 or 7. The fibers of m. iliocaudalis are noticeably bipennate[PMID:22753107] HP:0031219 biolink:NamedThing Reduced radioactive iodine uptake A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 11:55:22+00:00 peter owl:Class HP:0031221 biolink:NamedThing Abnormal radioactive iodine uptake test result Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 12:00:25+00:00 peter owl:Class UBERON:0018151 biolink:NamedThing skin of upper lip A zone of skin that is part of a upper lip. tmpxe7fu0cj_hp_relaxed.owl upper lip skin FMA:24765 uberon owl:Class UBERON:0001458 biolink:NamedThing skin of lip A zone of skin that is part of a lip [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl zone of skin of lip|lip skin|skin of lips|lip zone of skin UMLS:C0222101|MA:0001579|NCIT:C12291|FMA:24764|EMAPA:37643|SCTID:244092005 uberon owl:Class UBERON:0006230 biolink:NamedThing extrinsic ocular pre-muscle mass tmpxe7fu0cj_hp_relaxed.owl EHDAA:2925|EMAPA:17845|EHDAA2:0000483 uberon owl:Class UBERON:0003314 biolink:NamedThing eye mesenchyme Mesenchyme that is part of a developing camera-type eye. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of eye EHDAA2:0000485|EHDAA:2910|EMAPA:16673|VHOG:0001084 TODO - change mesenchyme relationships to precursor_of uberon owl:Class HP:0009682 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the thumb A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Pseudoepiphysis of the outermost bone of the thumb UMLS:C4024237 doelkens 2009-01-30T09:18:09Z human_phenotype owl:Class HP:0010253 biolink:NamedThing Pseudoepiphyses of the distal phalanges of the hand A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023947 doelkens 2009-07-06T04:23:06Z human_phenotype owl:Class UBERON:0001273 biolink:NamedThing ilium Paired endochondral bone that is the dorsal-most of the pelvic bones, offering attachment areas for gluteal muscles on its main surface [PHENOSCAPE:ad]. tmpxe7fu0cj_hp_relaxed.owl ilium bone|os ilium|illium|iliac bone|os ilii|os iliacum GAID:207|MESH:A02.835.232.611.434|OpenCyc:Mx4rvhwFJ5wpEbGdrcN5Y29ycA|EMAPA:18726|NCIT:C32765|AAO:0000772|MA:0001336|UMLS:C0020889|galen:Ilium|EFO:0003049|CALOHA:TS-2200|FMA:16589 uberon owl:Class Paired, rodlike endochondral bones that constitute the anterior pelvic girdle.[AAO] iliac All reptiles have an ilium except snakes, although some snake species have a tiny bone which is considered to be an ilium this is_a hip bone in MA. GO:0071709 biolink:NamedThing membrane assembly The aggregation, arrangement and bonding together of a set of components to form a membrane. tmpxe7fu0cj_hp_relaxed.owl mah 2010-03-10T11:19:17Z biological_process owl:Class HP:0009600 biolink:NamedThing Flexion contracture of thumb Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected. tmpxe7fu0cj_hp_relaxed.owl Flexion deformities of thumbs|Joint contractures of the thumb|Contracture of thumb SNOMEDCT_US:239736003|UMLS:C0409346 doelkens 2009-01-29T01:06:31Z HP:0006043|HP:0004061 human_phenotype owl:Class GO:0045931 biolink:NamedThing positive regulation of mitotic cell cycle Any process that activates or increases the rate or extent of progression through the mitotic cell cycle. tmpxe7fu0cj_hp_relaxed.owl stimulation of progression through mitotic cell cycle|positive regulation of progression through mitotic cell cycle|up-regulation of progression through mitotic cell cycle|up regulation of progression through mitotic cell cycle|upregulation of progression through mitotic cell cycle|positive regulation of mitotic cell cycle progression|activation of progression through mitotic cell cycle biological_process owl:Class GO:0071281 biolink:NamedThing cellular response to iron ion Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an iron ion stimulus. tmpxe7fu0cj_hp_relaxed.owl cellular response to iron mah 2009-12-10T03:57:22Z biological_process owl:Class CHEBI:33252 biolink:NamedThing atomic nucleus A nucleus is the positively charged central portion of an atom, excluding the orbital electrons. tmpxe7fu0cj_hp_relaxed.owl nucleo|nuclei|noyau atomique|Kern|Atomkern|nucleus|noyau|nucleo atomico|nucleus atomi chebi_ontology owl:Class CHEBI:36347 biolink:NamedThing nuclear particle A nucleus or any of its constituents in any of their energy states. tmpxe7fu0cj_hp_relaxed.owl nuclear particle chebi_ontology owl:Class UBERON:0005045 biolink:NamedThing mucosa of ethmoidal sinus A mucosa that is part of a ethmoid sinus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucous membrane of ethmoid sinus|ethmoid sinus mucosa of organ|organ mucosa of ethmoid sinus|mucosa of ethmoid sinus|ethmoid sinus mucosa|ethmoid sinus mucous membrane|ethmoidal sinus mucosa|ethmoid sinus organ mucosa|mucosa of organ of ethmoid sinus FMA:59776 uberon owl:Class GO:0051378 biolink:NamedThing serotonin binding Binding to serotonin (5-hydroxytryptamine), a monoamine neurotransmitter occurring in the peripheral and central nervous systems, also having hormonal properties. tmpxe7fu0cj_hp_relaxed.owl 5-hydroxytryptamine binding molecular_function owl:Class GO:0043169 biolink:NamedThing cation binding Binding to a cation, a charged atom or group of atoms with a net positive charge. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class HP:0012735 biolink:NamedThing Cough A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. tmpxe7fu0cj_hp_relaxed.owl Cough|Coughing SNOMEDCT_US:263731006|SNOMEDCT_US:49727002|MSH:D003371|UMLS:C0010200|SNOMEDCT_US:272039006 The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). In adults, an acute cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. In children aged less than 15 years a chronic cough is defined as a daily cough lasting for over 4 weeks. peter 2014-03-23T03:19:50Z owl:Class UBERON:0006767 biolink:NamedThing head of femur The hemispheric articular surface at the upper extremity of the thigh bone[Stedman, 26th ed]. The femur head is the highest part of the thigh bone. It is supported by the neck of the femur. The head is globular and forms rather more than a hemisphere, is directed upward, medialward, and a little forward, the greater part of its convexity being above and in front. Its surface is smooth, coated with cartilage in the fresh state, except over an ovoid depression, the fovea capitis femoris, which is situated a little below and behind the center of the head, and gives attachment to the ligament of head of femur. If there is a fracture of the neck of the femur, the blood supply through the ligament becomes crucial. In orthopedic surgery, the head of the femur is important because it can undergo avascular necrosis and consequent osteochondritis dissecans. The head is removed in total hip replacement surgery [WP]. tmpxe7fu0cj_hp_relaxed.owl kopf des Schenkelbeins|acetabular head|caput femoris|femur head|femoral head|capital femoral epiphysis EMAPA:37541|MESH:A02.835.232.500.247.343|UMLS:C0015813|FMA:32851|MA:0003050|NCIT:C32718|AAO:0000892|galen:FemoralHead http://upload.wikimedia.org/wikipedia/commons/9/97/Gray243.png uberon owl:Class Proximal head of the femur, which articulates with the acetabulum.[AAO] HP:0002216 biolink:NamedThing Premature graying of hair Development of gray hair at a younger than normal age. tmpxe7fu0cj_hp_relaxed.owl Premature graying of the hair|Premature greying|Premature greying of the hair|Premature graying of hair|Early greying|Premature hair graying|Premature greying of hair|Early graying|Premature hair greying|Premature graying SNOMEDCT_US:387833009|UMLS:C0263498 owl:Class HP:0002710 biolink:NamedThing Commissural lip pit A depression located at an oral commissure. tmpxe7fu0cj_hp_relaxed.owl Commissural labial pits|Pits at the corners of the lips|Commissural pit|Lip pits at corners of the mouth UMLS:C0399605 Commissural lip pits have no relationship to other forms of lip pits which may be located on the vermilion of the upper or lower lip, usually paramedian. Rather, commissural pits are located at the corners of the oral aperture. human_phenotype owl:Class HP:0100267 biolink:NamedThing Lip pit A depression located on a lip. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0341059 doelkens 2010-07-20T04:06:32Z human_phenotype owl:Class HP:0001466 biolink:NamedThing Contiguous gene syndrome tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855496 human_phenotype owl:Class GO:0007019 biolink:NamedThing microtubule depolymerization The removal of tubulin heterodimers from one or both ends of a microtubule. tmpxe7fu0cj_hp_relaxed.owl microtubule catastrophe|microtubule disassembly|microtubule depolymerization during nuclear congression|microtubule shortening biological_process owl:Class GO:0022411 biolink:NamedThing cellular component disassembly A cellular process that results in the breakdown of a cellular component. tmpxe7fu0cj_hp_relaxed.owl cell structure disassembly|cellular component disassembly at cellular level GO:0071845 biological_process owl:Class HP:0009637 biolink:NamedThing Absent proximal phalanx of thumb Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Absent ossification/absent proximal thumb phalanx|Aplasia of the proximal phalanx of the thumb|Absent innermost thumb bone UMLS:C4021418 doelkens 2009-01-29T05:11:02Z HP:0004077 human_phenotype owl:Class HP:0009245 biolink:NamedThing Triangular shaped distal phalanx of the 5th finger Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped outermost pinky finger bone|Triangular shaped outermost pinkie finger bone|Triangular shaped outermost little finger bone UMLS:C4024502 doelkens 2009-01-05T07:25:50Z human_phenotype owl:Class HP:0009378 biolink:NamedThing Triangular shaped phalanges of the 5th finger Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped pinkie finger bones|Triangular shaped pinky finger bones|Triangular shaped little finger bones UMLS:C4024409 doelkens 2009-01-13T12:00:35Z human_phenotype owl:Class UBERON:0001418 biolink:NamedThing skin of thorax A zone of skin that is part of a thorax [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl upper body skin|thoracic skin|thorax zone of skin|zone of skin of thorax|thorax skin FMA:23029|EMAPA:37765|SCTID:281723000|MA:0000564|FMA:23028 uberon owl:Class UBERON:0001085 biolink:NamedThing skin of trunk A zone of skin that is part of a trunk [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl zone of skin of trunk|trunk zone of skin|torso zone of skin|trunk skin|zone of skin of torso FMA:12167|FMA:23093|EMAPA:37278|MA:0000517|SCTID:181489001|NCIT:C12295|UMLS:C0205031 TODO - distinguish between entire skin of region and arbitrary zone of skin on region uberon owl:Class GO:0071623 biolink:NamedThing negative regulation of granulocyte chemotaxis Any process that decreases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl mah 2010-02-09T04:13:19Z biological_process owl:Class UBERON:0008000 biolink:NamedThing sesamoid bone of pes A sesamoid bone that is part of a pes. tmpxe7fu0cj_hp_relaxed.owl sesamoid bone of foot FMA:45096 uberon owl:Class UBERON:0011141 biolink:NamedThing appendicular ossicle Ossicle that is part of the appendicular skeleton. tmpxe7fu0cj_hp_relaxed.owl ossicle of appendicular skeleton VSAO:0000131|XAO:0004194 Examples of appendicular ossicles include the patella and meniscus of the knee joint. uberon owl:Class HP:0007546 biolink:NamedThing Linear hyperpigmentation tmpxe7fu0cj_hp_relaxed.owl UMLS:C3278658 human_phenotype owl:Class GO:0030316 biolink:NamedThing osteoclast differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. tmpxe7fu0cj_hp_relaxed.owl osteoclast cell differentiation biological_process owl:Class HP:0001076 biolink:NamedThing Glabellar hemangioma tmpxe7fu0cj_hp_relaxed.owl Glabellar capillary hemangioma UMLS:C1854408 human_phenotype owl:Class CHEBI:16865 biolink:NamedThing gamma-aminobutyric acid A gamma-amino acid that is butanoic acid with the amino substituent located at C-4. tmpxe7fu0cj_hp_relaxed.owl gamma-Aminobutyric acid|4-aminobutanoic acid|gamma-aminobutyric acid|4-Aminobutyric acid|omega-aminobutyric acid|gamma-Aminobuttersaeure|piperidic acid|GAMMA-AMINO-BUTANOIC ACID|GABA|gamma-amino-n-butyric acid|gamma-aminobutanoic acid|4-Aminobutanoic acid|4-aminobutyric acid|4Abu|piperidinic acid 0 C4H9NO2 InChI=1S/C4H9NO2/c5-3-1-2-4(6)7/h1-3,5H2,(H,6,7) BTCSSZJGUNDROE-UHFFFAOYSA-N 103.11980 103.06333 NCCCC(O)=O PMID:16276116|DrugBank:DB02530|LIPID_MAPS_instance:LMFA01100039|BPDB:2298|PMID:10930630|MetaCyc:4-AMINO-BUTYRATE|PDBeChem:ABU|Wikipedia:Gamma-Aminobutyric_acid|CAS:56-12-2|HMDB:HMDB0000112|PMID:21614609|PMID:22770225|KEGG:D00058|KEGG:C00334|Reaxys:906818|Drug_Central:1262|Gmelin:49775|KNApSAcK:C00001337|PMID:10630630|Beilstein:906818 CHEBI:20318|CHEBI:1786|CHEBI:193777|CHEBI:40483 chebi_ontology owl:Class CHEBI:25384 biolink:NamedThing monocarboxylic acid An oxoacid containing a single carboxy group. tmpxe7fu0cj_hp_relaxed.owl monocarboxylic acids chebi_ontology owl:Class HP:0012786 biolink:NamedThing Recurrent cystitis Repeated infections of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl Recurrent bladder infections SNOMEDCT_US:197853008|UMLS:C0581366 One definition of recurrent cystitis involves 3 or more diagnosed cystitis episodes (ICD-9 codes 595.0, 595.9, 597.81, 599.0 with episodes separated by 30 days or more) within a 12-month period or 2 episodes within 6 months. peter 2014-04-22T09:18:06Z human_phenotype owl:Class HP:0000010 biolink:NamedThing Recurrent urinary tract infections Repeated infections of the urinary tract. tmpxe7fu0cj_hp_relaxed.owl Frequent urinary tract infections|Repeated urinary tract infections|Urinary tract infections, recurrent|Urinary tract infections|Recurrent UTIs|Repeated bladder infections UMLS:C0262655|SNOMEDCT_US:197927001 The urinary tract comprises the kidneys, ureters, a bladder, and a urethra. HP:0000094 human_phenotype owl:Class UBERON:0015102 biolink:NamedThing distal tarsal bone 1 endochondral element tmpxe7fu0cj_hp_relaxed.owl distal tarsal 1 uberon owl:Class UBERON:0003523 biolink:NamedThing manus blood vessel A blood vessel that is part of a manus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of manus|hand blood vessel|blood vessel of hand MA:0000618|EMAPA:37296 uberon owl:Class UBERON:0003515 biolink:NamedThing forelimb blood vessel A blood vessel that is part of a forelimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl anteriormost limb blood vessel|wing blood vessel|fore limb blood vessel|blood vessel of anteriormost limb|blood vessel of fore limb|blood vessel of forelimb|blood vessel of upper extremity EMAPA:37292|MA:0000611 uberon owl:Class HP:4000032 biolink:NamedThing False perception of self-motion A perception that one's body is moving or swaying despite lack of motion of the body. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 15:07:55+00:00 robinp owl:Class PR:Q9WTK5 biolink:NamedThing nuclear factor NF-kappa-B p100 subunit (mouse) A nuclear factor NF-kappa-B p100 subunit that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl mNFKB2|DNA-binding factor KBF2 (mouse)|nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (mouse)|Nfkb2 UniProtKB:Q9WTK5 Category=organism-gene. protein owl:Class GO:0031110 biolink:NamedThing regulation of microtubule polymerization or depolymerization Any process that modulates the frequency, rate or extent of microtubule polymerization or depolymerization by the addition or removal of tubulin heterodimers from a microtubule. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0070507 biolink:NamedThing regulation of microtubule cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. tmpxe7fu0cj_hp_relaxed.owl regulation of microtubule cytoskeleton organisation|regulation of microtubule dynamics biological_process owl:Class HP:0002009 biolink:NamedThing Potter facies A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0266619|SNOMEDCT_US:24814002 Potter sequence is a sequence of events resulting from oligohydramnios due to any of a number of causes such as bilateral renal agenesis. Affected fetuses often have a characteristic facial appearance. human_phenotype owl:Class HP:0011334 biolink:NamedThing Facial shape deformation tmpxe7fu0cj_hp_relaxed.owl Facial shape compression|Facial shape deformation|Distortion of facial shape UMLS:C4021159 peter 2012-02-25T05:10:19Z human_phenotype owl:Class HP:0010196 biolink:NamedThing Bullet-shaped middle toe phalanx An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped middle phalanges of the toes|Bullet-shaped middle bones of the toes UMLS:C4021321 doelkens 2009-05-29T01:53:35Z human_phenotype owl:Class HP:0010175 biolink:NamedThing Bullet-shaped toe phalanx An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped toe bone|Bullet-shaped phalanges of the toes UMLS:C4021331 doelkens 2009-05-29T01:39:26Z human_phenotype owl:Class HP:0033740 biolink:NamedThing Grade V vesicoureteral reflux Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter. tmpxe7fu0cj_hp_relaxed.owl VUR V|Grade V VUR 2021-04-16 14:12:45+00:00 peter owl:Class HP:0033734 biolink:NamedThing High-grade vesicoureteral reflux Vesicoureteral reflux with dilation of the renal calyces (Grade III - V). tmpxe7fu0cj_hp_relaxed.owl 2021-04-16 13:56:53+00:00 peter owl:Class HP:0004297 biolink:NamedThing Abnormality of the biliary system An abnormality of the biliary system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0940767 peter 2008-02-20T11:34:00Z human_phenotype owl:Class HP:0001392 biolink:NamedThing Abnormality of the liver An abnormality of the liver. tmpxe7fu0cj_hp_relaxed.owl Liver disease|Abnormal liver|Liver abnormality|Abnormality of the liver UMLS:C4021780|UMLS:C0023895|MSH:D008107|SNOMEDCT_US:235856003 human_phenotype owl:Class CL:0000152 biolink:NamedThing exocrine cell A cell of an exocrine gland; i.e. a gland that discharges its secretion via a duct. tmpxe7fu0cj_hp_relaxed.owl FMA:16014 cell owl:Class CL:0000151 biolink:NamedThing secretory cell A cell that specializes in controlled release of one or more substances. tmpxe7fu0cj_hp_relaxed.owl FMA:86916|BTO:0003659 cell owl:Class HP:0009233 biolink:NamedThing Triangular shaped proximal phalanx of the 5th finger Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped innermost little finger bone|Triangular shaped innermost pinkie finger bone|Triangular shaped innermost pinky finger bone UMLS:C4024511 doelkens 2009-01-05T06:11:33Z human_phenotype owl:Class HP:0005564 biolink:NamedThing Absence of renal corticomedullary differentiation A lack of differentiation between renal cortex and medulla on diagnostic imaging. tmpxe7fu0cj_hp_relaxed.owl Loss of corticomedullary differentiation|Absent renal corticomedullary differentiation UMLS:C1849765 HP:0005581 human_phenotype owl:Class HP:0005932 biolink:NamedThing Abnormal renal corticomedullary differentiation An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025102 On T1-weighted magnetic resonance imaging, the signal intensity of the normal renal cortex is typically higher than medulla, resulting in easily visualized corticomedullary differentiation (CMD). Loss of CMD can be seen in disorders such as glomerulonephritis, acute tubular necrosis, end-stage chronic renal failure, obstructive hydronephrosis, and acute allograft rejection. peter 2008-03-27T03:21:00Z human_phenotype owl:Class UBERON:0004382 biolink:NamedThing epiphysis of humerus An epiphysis that is part of a humerus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl humeral epiphysis FMA:32825 uberon owl:Class HP:0100463 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 5th toe Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the middle bone of the pinkie toe|Uneven increase in bone density in the middle bone of the pinky toe|Uneven increase in bone density in the middle bone of the little toe UMLS:C4022064 human_phenotype owl:Class HP:0100938 biolink:NamedThing Sclerosis of the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the middle bone of the pinky toe|Increased bone density in the middle bone of the pinkie toe|Increased bone density in the middle bone of the little toe UMLS:C4021920 human_phenotype owl:Class HP:0410225 biolink:NamedThing Increased anti-drug IgE antibody level Increased level of IgE antibody against a drug or class of drugs, such as antibiotics. tmpxe7fu0cj_hp_relaxed.owl Increased level of anti-drug IgE antibody 2018-10-03 18:09:35+00:00 owl:Class CHEBI:58465 biolink:NamedThing dermatan sulfate polyanion The conjugate base of dermatan sulfate, obtained by deprotonation of carboxy and sulfate groups. tmpxe7fu0cj_hp_relaxed.owl dermatan 4'-sulfate H2O.(C14H219NO14S)n chebi_ontology owl:Class HP:0008789 biolink:NamedThing Cone-shaped capital femoral epiphysis A cone-shaped deformity of the proximal epiphysis of the femur. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of innermost thighbone UMLS:C1846157 human_phenotype owl:Class CHEBI:50339 biolink:NamedThing 4-aminobutyl group tmpxe7fu0cj_hp_relaxed.owl 4-aminobutyl|lysine side-chain 0 C4H10N 72.12894 72.08132 NCCCC* chebi_ontology owl:Class HP:0031346 biolink:NamedThing Rectal arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 13:59:03+00:00 peter owl:Class HP:0002629 biolink:NamedThing Gastrointestinal arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract. tmpxe7fu0cj_hp_relaxed.owl GI arteriovenous malformation UMLS:C0744321 human_phenotype owl:Class GO:0002281 biolink:NamedThing macrophage activation involved in immune response A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpxe7fu0cj_hp_relaxed.owl macrophage activation during immune response|macrophage polarization involved in immune response biological_process owl:Class GO:0042116 biolink:NamedThing macrophage activation A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. tmpxe7fu0cj_hp_relaxed.owl macrophage polarization biological_process owl:Class HP:0012280 biolink:NamedThing Hepatic amyloidosis A form of amyloidosis that affects the liver. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:9551004|UMLS:C0267839 peter 2013-04-07T03:59:46Z owl:Class HP:0007517 biolink:NamedThing Palmoplantar cutis laxa Loose, wrinkled skin of hands and feet. tmpxe7fu0cj_hp_relaxed.owl Wrinkled palms and soles|Wrinkled skin of hands and feet|Increased wrinkles of palms and soles|Furrowed palms and soles|Excessive wrinkled skin of palms and soles UMLS:C1856714 HP:0001016 human_phenotype owl:Class HP:0011082 biolink:NamedThing Conical primary incisor An abnormal conical morphology of the primary incisor. tmpxe7fu0cj_hp_relaxed.owl Pointed front baby tooth|Cone shaped front baby tooth|Conical deciduous incisor|Conoid primary incisor|Primary front shark tooth|Pointed primary incisor|Peg shaped front baby tooth|Peg shaped primary incisor UMLS:C4023543 peter 2011-03-11T11:06:57Z human_phenotype owl:Class UBERON:0015042 biolink:NamedThing manual digit metacarpus endochondral element A manual digit metacarpus bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl manual digit metacarpus element|manual digit metacarpus skeletal element uberon owl:Class HP:0020034 biolink:NamedThing Diffuse A spatial pattern that is spread out, i.e., not localized. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0205219|SNOMEDCT_US:19648000 owl:Class HP:0011846 biolink:NamedThing Osteoblastoma A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0029417|MSH:D018215|SNOMEDCT_US:55333008 peter 2012-05-09T08:34:41Z human_phenotype owl:Class HP:0011205 biolink:NamedThing EEG with intermittent slow activity Non-continuous diffuse slowing of electroencephalographic patterns. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023469 hecht 2011-11-19T11:30:20Z human_phenotype owl:Class HP:0010845 biolink:NamedThing EEG with generalized slow activity Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). tmpxe7fu0cj_hp_relaxed.owl EEG: generalized slow activity|EEG: generalised slow activity|EEG with generalised slow activity UMLS:C4021217 Generalized slow activity in the EEG typically signifies serious dysfunction of the entire brain. peter 2010-07-10T08:15:05Z human_phenotype owl:Class UBERON:0008200 biolink:NamedThing forehead The part of the face above the eyes[MESH]. In human anatomy, the forehead is the fore part of the head. It is, formally, an area of the head bounded by three features, two of the skull and one of the scalp. The top of the forehead is marked by the hairline, the edge of the area where hair on the scalp grows. The bottom of the forehead is marked by the supraorbital ridge, the bone feature of the skull above the eyes. The two sides of the forehead are marked by the temporal ridge, a bone feature that links the supraorbital ridge to the coronal suture line and beyond[WP]. tmpxe7fu0cj_hp_relaxed.owl sinciput|fore head galen:Forehead|FMA:63864|MESH:D005546|NCIT:C89803|GAID:74|EMAPA:37869|UMLS:C0016540 http://upload.wikimedia.org/wikipedia/commons/8/83/Forhead_01_ies.jpg uberon owl:Class UBERON:0001444 biolink:NamedThing subdivision of head tmpxe7fu0cj_hp_relaxed.owl head region|region of head|head subdivision FMA:24218|SCTID:123852005|XAO:0000040 uberon owl:Class HP:0033015 biolink:NamedThing Increased salivary cortisol level Abnormally elevated concentration of cortisol in saliva. tmpxe7fu0cj_hp_relaxed.owl Literature suggests that saliva may provide a more sensitive measure of cortisol than serum or plasma. peter owl:Class HP:0033013 biolink:NamedThing Abnormal salivary cortisol level Any deviation from the normal concentration of cortisol in saliva. tmpxe7fu0cj_hp_relaxed.owl Literature suggests that saliva may provide a more sensitive measure of cortisol than serum or plasma. peter owl:Class HP:0100049 biolink:NamedThing Irregular epiphyses of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the 2nd toe bone UMLS:C4022372 doelkens 2010-06-24T09:58:18Z human_phenotype owl:Class UBERON:0003829 biolink:NamedThing urethra muscle tissue Any muscle tissue that is part of the urethra. tmpxe7fu0cj_hp_relaxed.owl urethral muscle layer EMAPA:37787|MA:0002649 uberon owl:Class GO:1901653 biolink:NamedThing cellular response to peptide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. tmpxe7fu0cj_hp_relaxed.owl pr 2012-11-20T09:45:19Z biological_process owl:Class GO:1901652 biolink:NamedThing response to peptide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. tmpxe7fu0cj_hp_relaxed.owl pr 2012-11-20T09:45:15Z biological_process owl:Class HP:3000079 biolink:NamedThing Abnormal mandibular symphysis morphology A structural abnormality of a mandibular symphysis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of mandible symphysis UMLS:C4073286 vasilevs 2015-08-07T03:39:28Z owl:Class HP:0032487 biolink:NamedThing Reduced fecal osmolality Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram. tmpxe7fu0cj_hp_relaxed.owl Reduced faecal osmolality 2019-04-11 11:42:10+00:00 peter owl:Class HP:0032485 biolink:NamedThing Abnormal fecal osmolality Abnormal concentration of feces as assessed by the total number of solute particles per kilogram. tmpxe7fu0cj_hp_relaxed.owl Abnormal faecal osmolality 2019-04-11 11:40:55+00:00 peter owl:Class GO:2001235 biolink:NamedThing positive regulation of apoptotic signaling pathway Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway. tmpxe7fu0cj_hp_relaxed.owl positive regulation of apoptotic signalling pathway pr 2011-11-24T01:20:58Z biological_process owl:Class GO:0099054 biolink:NamedThing presynapse assembly The aggregation, arrangement and bonding together of a set of components to form a presynapse. tmpxe7fu0cj_hp_relaxed.owl presynapse biogenesis|presynaptic terminal assembly biological_process owl:Class HP:0025260 biolink:NamedThing Stiff wrist A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity. tmpxe7fu0cj_hp_relaxed.owl Wrist stiffness|Stiff wrist 2016-12-18 01:12:32+00:00 HPO:probinson owl:Class UBERON:0005654 biolink:NamedThing lower jaw molar epithelium A dental epithelium that is part of a lower jaw molar. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001026|EMAPA:17922 uberon owl:Class UBERON:0014767 biolink:NamedThing left crus of diaphragm A crus of diaphragm that is in_the_left_side_of a diaphragm. tmpxe7fu0cj_hp_relaxed.owl crus sinistrum (Diaphragma)|left crus of lumbar part of diaphragm|left crus of diaphragm|crus sinistrum diaphragmatis FMA:58287 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern HP:0008054 biolink:NamedThing Abnormal morphology of the conjunctival vasculature Any abnormality of the blood vessels of the conjunctiva. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the vasculature of the conjunctiva|Abnormal morphology of the conjunctiva vasculature|Abnormal vasculature of the conjunctiva morphology UMLS:C4024747 peter 2008-04-02T03:04:00Z human_phenotype owl:Class HP:0009938 biolink:NamedThing Sunken cheeks Lack or loss of the soft tissues between the zygomata and mandible. tmpxe7fu0cj_hp_relaxed.owl Sunken cheeks|Depressed cheeks|Hollow cheeks UMLS:C4024154 peter 2009-05-10T11:17:18Z human_phenotype owl:Class GO:0042645 biolink:NamedThing mitochondrial nucleoid The region of a mitochondrion to which the DNA is confined. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:0009295 biolink:NamedThing nucleoid The region of a virus, bacterial cell, mitochondrion or chloroplast to which the nucleic acid is confined. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Nucleoid cellular_component owl:Class HP:0011521 biolink:NamedThing Deuteranopia Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green. tmpxe7fu0cj_hp_relaxed.owl Green-blind UMLS:C0155016|SNOMEDCT_US:246674000|MSH:D003117|SNOMEDCT_US:77479002 Blue and red cones only; no functional green cones. peter 2012-04-06T07:34:40Z human_phenotype owl:Class HP:0011518 biolink:NamedThing Dichromacy Individuals affected by dichromacy possess only two types of cones, instead of three. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023317 The three types of dichromacy (protanopia, deuteranopia, and tritanopia) are named according the cone photopigment that is missing. peter 2012-04-06T06:46:27Z human_phenotype owl:Class HP:0008589 biolink:NamedThing Hypoplastic helices Underdevelopment of the helix, i.e., of the outer rim of the pinna. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped helices UMLS:C1842681 human_phenotype owl:Class HP:0011039 biolink:NamedThing Abnormal helix morphology An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. tmpxe7fu0cj_hp_relaxed.owl Helix abnormal|Abnormal helices|Abnormality of the helix UMLS:C1856660 peter 2011-03-06T04:41:34Z HP:0000380 human_phenotype owl:Class CHEBI:22676 biolink:NamedThing auxin Any of a group of compounds, both naturally occurring and synthetic, that induce cell elongation in plant stems (from Greek alphaupsilonxialphanuomega, "to grow"). tmpxe7fu0cj_hp_relaxed.owl auxins Wikipedia:Auxin chebi_ontology owl:Class CHEBI:37848 biolink:NamedThing plant hormone A plant growth regulator that modulates the formation of stems, leaves and flowers, as well as the development and ripening of fruit. The term includes endogenous and non-endogenous compounds (e.g. active compounds produced by bacteria on the leaf surface) as well as semi-synthetic and fully synthetic compounds. tmpxe7fu0cj_hp_relaxed.owl phytohormones|plant hormones|plant growth hormone|plant growth factor|plant growth factors|plant growth hormones|phytohormone Wikipedia:Phytohormone CHEBI:26158 chebi_ontology owl:Class HP:0031246 biolink:NamedThing Nonproductive cough A cough that does not produce phlegm or mucus. tmpxe7fu0cj_hp_relaxed.owl Dry cough|Dry coughing 2017-08-12 13:19:10+00:00 peter owl:Class UBERON:0001950 biolink:NamedThing neocortex An area of cerebral cortex defined on the basis of cytoarchitecture that have six layers. Starting from the cortical surface the layers are: molecular layer (I), external granular layer (II), external pyramidal layer (III), internal granular layer (IV), internal pyramidal layer (V), and multiform layer (VI). Neocortex is most prominent in the frontal lobe, the parietal lobe, the temporal lobe and the occipital lobe, less so in the cingulate gyrus, the parahippocampal gyrus and the insula. It is composed of two subdivisions: true isocortex and proisocortex (Carpenter-83)(NN). tmpxe7fu0cj_hp_relaxed.owl cerebral neocortex|neopallium|iso-cortex|nucleus hypoglossalis|homotypical cortex|isocortex|homogenetic cortex|neocortex (isocortex)|isocortex (sensu lato)|nonolfactory cortex|neopallial cortex MA:0002754|GAID:677|Wikipedia:Neocortex|BIRNLEX:2547|DHBA:10160|BAMS:ISO|BTO:0000920|FMA:62429|EMAPA:35589|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=757|UMLS:C0175173|EMAPA:32842|BAMS:Iso-cortex|MESH:A08.186.211.730.885.213.420|PBA:294021746|BAMS:NCX|EHDAA2:0004662|MBA:315 http://upload.wikimedia.org/wikipedia/commons/7/77/Neocortex.jpg uberon owl:Class The 6-layer neocortex is well conserved in all extant mammals, but not present in birds or reptils CHEBI:30363 biolink:NamedThing isobutane An alkane that is propane substituted by a methyl group at position 2. tmpxe7fu0cj_hp_relaxed.owl E943b|isobutane|R-600a|(CH3)2CH-CH3|2-methylpropane 0 C4H10 InChI=1S/C4H10/c1-4(2)3/h4H,1-3H3 NNPPMTNAJDCUHE-UHFFFAOYSA-N 58.12220 58.07825 CC(C)C Reaxys:1730720|PMID:24464945|KEGG:D04623|Gmelin:1301|Beilstein:1730720|CAS:75-28-5|Wikipedia:Isobutane|PMID:24179026 chebi_ontology owl:Class CHEBI:138675 biolink:NamedThing gas molecular entity Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa). tmpxe7fu0cj_hp_relaxed.owl gaseous molecular entities|gas molecular entities|gaseous molecular entity Wikipedia:https://en.wikipedia.org/wiki/Gas chebi_ontology owl:Class UBERON:0006435 biolink:NamedThing os penis The unique bone located in the glans penis of most mammals except humans; it is used for copulation and varies in size and shape by species. tmpxe7fu0cj_hp_relaxed.owl baculum|os baculum|penis bone|penile bone MA:0000406|EMAPA:29769 uberon owl:Class found in most mammals, with the exception of humans UBERON:0007719 biolink:NamedThing bone of reproductive organ A bone that is part of a reproductive organ. tmpxe7fu0cj_hp_relaxed.owl baculum|os penis/os clitoris uberon owl:Class HP:0033910 biolink:NamedThing Arcuate vein medial atrophy Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney. tmpxe7fu0cj_hp_relaxed.owl Medial atrophy within arcuate veins 2021-06-23 23:01:44+00:00 peter owl:Class HP:0012296 biolink:NamedThing Slender distal phalanx of finger Reduced diameter of the distal phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Slender outermost bone of finger UMLS:C4022962 peter 2013-04-12T05:42:46Z human_phenotype owl:Class GO:0071704 biolink:NamedThing organic substance metabolic process The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. tmpxe7fu0cj_hp_relaxed.owl organic molecular entity metabolic process|organic molecular entity metabolism|organic substance metabolism mah 2010-03-08T03:32:18Z biological_process owl:Class HP:0010948 biolink:NamedThing Abnormality of the fetal cardiovascular system An abnormality of the fetal circulation system or fetal echocardiogram. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the foetal circulation system|Abnormality of the fetal circulation system|Abnormality of the foetal cardiovascular system UMLS:C4021210 peter 2011-01-16T03:53:44Z owl:Class HP:0033556 biolink:NamedThing Anti-nucleoporin 62 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62. tmpxe7fu0cj_hp_relaxed.owl Anti-p62 antibody positivity 2021-01-23 11:50:09+00:00 Anti-nucleoporin 62 antibody is an antibody directed against components of the nuclear membrane and is typically found in primary biliary cirrhosis. peter owl:Class GO:1903781 biolink:NamedThing positive regulation of cardiac conduction Any process that activates or increases the frequency, rate or extent of cardiac conduction. tmpxe7fu0cj_hp_relaxed.owl upregulation of cardiac conduction|activation of cardiac conduction|up regulation of cardiac conduction|up-regulation of cardiac conduction rph 2015-01-07T13:20:28Z biological_process owl:Class HP:0031413 biolink:NamedThing Short telomere length An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur. tmpxe7fu0cj_hp_relaxed.owl 2017-09-04 17:14:08+00:00 Telomeres are made of repeating TTAGGG/AATCCC units. The overall length of the telomere is over 10 kb at birth and progressively declines with age. peter owl:Class GO:1904170 biolink:NamedThing regulation of bleb assembly Any process that modulates the frequency, rate or extent of bleb assembly. tmpxe7fu0cj_hp_relaxed.owl regulation of cell blebbing als 2015-04-23T09:32:19Z biological_process owl:Class HP:0001220 biolink:NamedThing Interphalangeal joint contracture of finger Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. tmpxe7fu0cj_hp_relaxed.owl Interphalangeal joint flexion contractures UMLS:C4021784 human_phenotype owl:Class GO:0003281 biolink:NamedThing ventricular septum development The progression of the ventricular septum over time from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl septum inferius development|interventricular septum development dph 2009-10-20T10:04:51Z biological_process owl:Class GO:0003279 biolink:NamedThing cardiac septum development The progression of a cardiac septum over time, from its initial formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl heart septum development dph 2009-10-20T09:45:13Z biological_process owl:Class HP:0004981 biolink:NamedThing Prominent styloid process of ulna tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025262 human_phenotype owl:Class HP:0004035 biolink:NamedThing Abnormality of the styloid process of ulna tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025427 human_phenotype owl:Class GO:0055001 biolink:NamedThing muscle cell development The process whose specific outcome is the progression of a muscle cell over time, from its formation to the mature structure. Muscle cell development does not include the steps involved in committing an unspecified cell to the muscle cell fate. tmpxe7fu0cj_hp_relaxed.owl myofiber development|muscle fibre development|myofibre development|muscle fiber development GO:0048747 biological_process owl:Class CL:0000165 biolink:NamedThing neuroendocrine cell An endocrine cell that has the specialized function to produce and secrete hormones in response to neuronal signals. tmpxe7fu0cj_hp_relaxed.owl neurosecretory cell FMA:83810|BTO:0002691 cell owl:Class HP:0031300 biolink:NamedThing Abnormal circulating properdin level A deviation from the normal concentration of properdin in the blood. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 22:01:48+00:00 There are three pathways of complement activation, the classical pathway, lectin pathway, and alternative pathway. Each generates a C3 convertase, a serine protease that cleaves the central complement protein, C3. Nearly all the biological consequences of complement are dependent on the resulting cleavage products. Properdin is a positive regulator of complement activation that stabilizes the alternative pathway convertases (C3bBb). Properdin is composed of multiple identical protein subunits, with each subunit carrying a separate ligand-binding site. peter owl:Class HP:0025465 biolink:NamedThing Abnormal circulating beta globulin level A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood. tmpxe7fu0cj_hp_relaxed.owl 2017-05-07 11:35:19+00:00 The name beta globulin comes from the fact that protein electrophoresis of serum proteins results in a characteristic pattern of albumins, alpha, beta, and gamma globulins. HPO:probinson owl:Class HP:3000043 biolink:NamedThing Abnormal facial vein morphology An abnormality of a facial vein. tmpxe7fu0cj_hp_relaxed.owl Abnormal vein of face|Abnormality of facial vein UMLS:C4073251 vasilevs 2015-08-07T01:04:44Z human_phenotype owl:Class HP:3000036 biolink:NamedThing Abnormality of head blood vessel An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head. tmpxe7fu0cj_hp_relaxed.owl Abnormality of blood vessel of head|Abnormality of head blood vessel|Abnormality of vasculature of head UMLS:C4073244 vasilevs 2015-08-07T00:36:02Z human_phenotype owl:Class NBO:0000094 biolink:NamedThing fear behavior towards situation/environment "An emotional behavior related to a feeling of uneasiness or nervousness in respect to a particular situation or environment." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-03-31T10:18:11Z George Gkoutos behavior_ontology owl:Class NBO:0000091 biolink:NamedThing fear-related behavior "An emotional behavior related to a feeling of uneasiness or nervousness triggered by a specified triggering stimulus such as pain or the threat of danger." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl fear-related behaviour 2011-03-31T10:00:42Z George Gkoutos behavior_ontology owl:Class GO:0098609 biolink:NamedThing cell-cell adhesion The attachment of one cell to another cell via adhesion molecules. tmpxe7fu0cj_hp_relaxed.owl single organismal cell-cell adhesion dos 2014-04-16T13:40:03Z GO:0016337 biological_process owl:Class GO:0007155 biolink:NamedThing cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. tmpxe7fu0cj_hp_relaxed.owl single organism cell adhesion|cell adhesion molecule activity Wikipedia:Cell_adhesion dos 2014-04-15T15:59:10Z GO:0098602 biological_process owl:Class UBERON:0014387 biolink:NamedThing mesenchyme derived from neural crest Mesenchyme that develops_from the neural crest[Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mesenchyme from neural crest|neural crest mesenchyme|neural crest derived mesenchyme EMAPA:32735|FMA:293883 uberon owl:Class HP:0001941 biolink:NamedThing Acidosis Abnormal acid accumulation or depletion of base. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:51387008|UMLS:C0001122|MSH:D000138 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. HP:0001940 human_phenotype owl:Class HP:0010769 biolink:NamedThing Pilonidal sinus A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris. tmpxe7fu0cj_hp_relaxed.owl Pilonidal cyst SNOMEDCT_US:47639008|UMLS:C0031925|MSH:D010864 sdoelken 2010-04-29T09:55:15Z HP:0010768 human_phenotype owl:Class HP:0010767 biolink:NamedThing Sacrococcygeal pilonidal abnormality The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023709 sdoelken 2010-04-29T09:45:21Z human_phenotype owl:Class UBERON:0004737 biolink:NamedThing metanephric collecting duct A collecting duct of renal tubule that is part of a metanephros [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl metanephric collecting tubule|collecting duct of metanephros VHOG:0000983 uberon owl:Class PATO:0001690 biolink:NamedThing contractile A contractility quality inhering in a bearer by virtue of the bearer's ability of contracting or being contracted. tmpxe7fu0cj_hp_relaxed.owl This refers to the disposition of the bearer. quality owl:Class CHEBI:76924 biolink:NamedThing plant metabolite Any eukaryotic metabolite produced during a metabolic reaction in plants, the kingdom that include flowering plants, conifers and other gymnosperms. tmpxe7fu0cj_hp_relaxed.owl plant metabolites|plant secondary metabolites CHEBI:76925|CHEBI:75766 chebi_ontology owl:Class UBERON:0019210 biolink:NamedThing pole of lens A central point or region on the anterior or posterior surface of the lens. tmpxe7fu0cj_hp_relaxed.owl zone of lens|lens pole|lens zone FMA:58067 uberon owl:Class GO:0002707 biolink:NamedThing negative regulation of lymphocyte mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of lymphocyte mediated immunity. tmpxe7fu0cj_hp_relaxed.owl down-regulation of lymphocyte mediated immunity|inhibition of lymphocyte mediated immunity|downregulation of lymphocyte mediated immunity|down regulation of lymphocyte mediated immunity biological_process owl:Class HP:0000024 biolink:NamedThing Prostatitis The presence of inflammation of the prostate. tmpxe7fu0cj_hp_relaxed.owl Inflammation of the prostate SNOMEDCT_US:9713002|MSH:D011472|UMLS:C0033581 human_phenotype owl:Class UBERON:0002528 biolink:NamedThing sacral lymph node A lymph node located in the sacral region. tmpxe7fu0cj_hp_relaxed.owl sacral node MA:0002883|NCIT:C77647|FMA:16655|UMLS:C0229827 uberon owl:Class UBERON:0010074 biolink:NamedThing chromaffin system Organ system subdivision that consists primarily of chromaffin cells and their supporting structures. tmpxe7fu0cj_hp_relaxed.owl argentaffin system|chromaffin tissue FMA:79645|MESH:D002838 uberon owl:Class in adult cylostomes and teleosts, the interrenal bodies are separate from chromaffin bodies PR:P05533 biolink:NamedThing lymphocyte antigen 6A-2/6E-1 (mouse) A lymphocyte antigen 6A-2/6E-1 that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl SCA-1 (mouse)|mLy6a|Ly6|T-cell-activating protein (mouse)|Ly6a|Ly-6A.2/Ly-6E.1 (mouse)|TAP (mouse)|Stem cell antigen 1 (mouse) UniProtKB:P05533 Category=organism-gene. protein owl:Class GO:1904100 biolink:NamedThing positive regulation of protein O-linked glycosylation Any process that activates or increases the frequency, rate or extent of protein O-linked glycosylation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of protein O-linked glycosylation|activation of protein O-linked glycosylation|up-regulation of protein amino acid O-linked glycosylation|up regulation of protein O-linked glycosylation|positive regulation of protein amino acid O-linked glycosylation|upregulation of protein O-linked glycosylation|activation of protein amino acid O-linked glycosylation|up regulation of protein amino acid O-linked glycosylation|upregulation of protein amino acid O-linked glycosylation krc 2015-03-27T16:10:10Z biological_process owl:Class HP:0030069 biolink:NamedThing Primary central nervous system lymphoma A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS. tmpxe7fu0cj_hp_relaxed.owl Primary CNS lymphoma SNOMEDCT_US:21964009|UMLS:C0280803|SNOMEDCT_US:307649006 Primary central nervous system lymphoma (PCNSL) is defined as the involvement of brain, leptomeninges, cerebrospinal fluid, eyes or spinal cord by an extranodal non-Hodgkin lymphoma (NHL) without evidence of a systemic lymphoma at the time of diagnosis. It represents 0.8 to 6.6% of all primary CNS tumors owl:Class HP:0012539 biolink:NamedThing Non-Hodgkin lymphoma A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells. tmpxe7fu0cj_hp_relaxed.owl MSH:D008228|SNOMEDCT_US:128929007|SNOMEDCT_US:1929004|UMLS:C0024305|SNOMEDCT_US:118601006|SNOMEDCT_US:188675007 peter 2013-12-15T10:45:49Z human_phenotype owl:Class UBERON:0000128 biolink:NamedThing olivary body Prominent oval structure in the medulla oblongata, present in pairs, the lower portion of the brainstem. They contain the olivary nuclei. tmpxe7fu0cj_hp_relaxed.owl olive body|olive|oliva|olivary nucleus BTO:0002299 http://upload.wikimedia.org/wikipedia/commons/9/9a/Gray679.png uberon owl:Class UBERON:0015037 biolink:NamedThing pedal digit 1 metatarsal endochondral element A pedal digit 1 metatarsal bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl pedal digit 1 metatarsal element|pedal digit 1 metatarsal skeletal element|pedal digit I metatarsal endochondral element uberon owl:Class HP:0041194 biolink:NamedThing Fractured epiphysis of second metatarsal bone A partial or complete breakage of the epiphysis of second metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl bone epiphysis of second metatarsal bone owl:Class HP:0010630 biolink:NamedThing Abnormality of metatarsal epiphysis Any abnormality of a metatarsal bone epiphysis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of end part of long bone of foot|Abnormality of the epiphyses of the metatarsals UMLS:C4021248 peter 2009-12-06T05:58:36Z human_phenotype owl:Class UBERON:0015474 biolink:NamedThing axilla skin A zone of skin that is part of a axilla. tmpxe7fu0cj_hp_relaxed.owl skin of axilla|axillary skin MA:0003087|EMAPA:37349|FMA:37322|NCIT:C116164 uberon owl:Class HP:0100054 biolink:NamedThing Triangular epiphyses of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the 2nd toe bone UMLS:C4022367 doelkens 2010-06-24T09:58:18Z human_phenotype owl:Class HP:0010172 biolink:NamedThing Triangular epiphyses of the toes tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the toe bones UMLS:C4023988 doelkens 2009-05-29T01:34:06Z human_phenotype owl:Class UBERON:0012254 biolink:NamedThing abdominal aorta artery An artery that originates from the abdominal aorta. tmpxe7fu0cj_hp_relaxed.owl abdominal artery|artery of abdomen SCTID:281470000 uberon owl:Class CHEBI:22586 biolink:NamedThing antioxidant A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides. tmpxe7fu0cj_hp_relaxed.owl antoxidant|antioxidants|antioxydant chebi_ontology owl:Class GO:0002286 biolink:NamedThing T cell activation involved in immune response The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific, leading to the initiation or perpetuation of an immune response. tmpxe7fu0cj_hp_relaxed.owl T lymphocyte activation during immune response|T-lymphocyte activation during immune response|T cell activation during immune response|T-cell activation during immune response biological_process owl:Class HP:0500167 biolink:NamedThing Hypergastrinemia An elevated amount of gastrin in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased blood gastrin|Elevated gastrin in the blood 2018-11-05 18:51:20+00:00 owl:Class HP:0010967 biolink:NamedThing Abnormal circulating carnitine concentration Any deviation from the normal concentration of carnitine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Carnitine levels abnormal UMLS:C4021855|UMLS:C4020761 L-carnitine (3-hydroxy-4-N.trimethylammonium butyrate) plays a key role in facilitating the transport of long-chain fatty acids from the cytosol into the mitochondrial matrix, where they undergo 13-oxidation. peter 2011-01-27T09:19:42Z human_phenotype owl:Class GO:0098523 biolink:NamedThing neuromuscular junction of myotube A neuromuscular junction in which the target muscle cell is a myotube. tmpxe7fu0cj_hp_relaxed.owl In vertebrates, the term 'neuromuscular junction' is limited to synapses targeting the myotubes of skeletal muscle (AKA skeletal muscle fibers). Neuromuscular junctions targeting other muscle cell types exist in invertebrates such as the mononucleate somatic muscles of nematodes. dos 2013-10-14T12:05:12Z cellular_component owl:Class GO:0031594 biolink:NamedThing neuromuscular junction The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. tmpxe7fu0cj_hp_relaxed.owl motor endplate|NMJ Wikipedia:Neuromuscular_junction|NIF_Subcellular:sao1124888485 In vertebrates, the term 'neuromuscular junction' is limited to synapses targeting skeletal muscle fibers - all of which are cholinergic and excitatory. Both inhibitory and excitatory neuromuscular junctions exist in invertebrates, utilizing a range of neurotransmitters including glutamate, GABA and 5-HT. cellular_component owl:Class CHEBI:133609 biolink:NamedThing 3-methylhistidine zwitterion An alpha-amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of 3-methylhistidine; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl 2-azaniumyl-3-(1-methyl-1H-imidazol-5-yl)propanoate 0 C7H11N3O2 InChI=1S/C7H11N3O2/c1-10-4-9-3-5(10)2-6(8)7(11)12/h3-4,6H,2,8H2,1H3,(H,11,12) JDHILDINMRGULE-UHFFFAOYSA-N 169.181 169.08513 [O-]C(=O)C([NH3+])CC=1N(C=NC1)C chebi_ontology owl:Class HP:0002738 biolink:NamedThing Hypoplastic frontal sinuses Underdevelopment of frontal sinus. tmpxe7fu0cj_hp_relaxed.owl Small frontal sinuses|Underdeveloped frontal sinuses|Decreased volume of frontal sinuses|Decreased pneumatization of frontal sinus|Hypotrophic frontal sinus UMLS:C4280548|UMLS:C1859682|UMLS:C4280549 human_phenotype owl:Class UBERON:0005292 biolink:NamedThing extraembryonic tissue Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo. tmpxe7fu0cj_hp_relaxed.owl extra-embryonic tissue CALOHA:TS-2119|EFO:0001406|BTO:0003360|MIAA:0000061|MAT:0000061 uberon owl:Class GO:0044262 biolink:NamedThing cellular carbohydrate metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl main pathways of carbohydrate metabolism|main pathways of carbohydrate metabolic process|cellular carbohydrate metabolism GO:0006092 biological_process owl:Class HP:0030968 biolink:NamedThing Abnormal pulmonary vein morphology An abnormality of the structure of the pulmonary veins. tmpxe7fu0cj_hp_relaxed.owl 2017-04-18 13:38:34+00:00 Fyler:3000 robinp owl:Class HP:0011718 biolink:NamedThing Abnormality of the pulmonary veins An abnormality of the pulmonary veins. tmpxe7fu0cj_hp_relaxed.owl Abnormality of lung veins SNOMEDCT_US:111322000|UMLS:C0265914|SNOMEDCT_US:199113001|SNOMEDCT_US:128585006 The right superior, right inferior, left superior, and left inferior pulmonary veins carry oxygenated blood to the left atrium. peter 2012-04-11T08:45:48Z owl:Class UBERON:0004319 biolink:NamedThing distal phalanx of pedal digit 5 A distal phalanx that is part of a foot digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl distal phalanx of fifth toe|distal phalanx of fifth digit of foot|fifth distal phalanx of foot|5th toe distal phalanx|distal phalanx of pedal digit V|distal phalanx of the 5th toe|distal phalanx of foot digit 5|foot digit 5 distal phalanx|distal phalanx of little toe|distal phalanx of 5th toe FMA:32631 uberon owl:Class UBERON:0005339 biolink:NamedThing outflow tract pulmonary component tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001359|EMAPA:17330|VHOG:0001395|MA:0000102|EHDAA:4401 merge with RVOT? uberon owl:Class UBERON:0004145 biolink:NamedThing outflow tract The outflow tract is the portion of the heart through which blood flows into the arteries. tmpxe7fu0cj_hp_relaxed.owl heart outflow tract|arterial (outflow) pole|cardiac outflow tract EMAPA:16346|EHDAA:798|VHOG:0000670|EHDAA:464|EHDAA2:0001351|XAO:0004139|MA:0000100 uberon owl:Class Depending on the species, attached at the cardiac outflow are described the conus arteriosus, the truncus arteriosus and, or the bulbus arteriosus. At the distal limit of these outflow structures, but lying outside the pericardial cavity, is the ventral aorta[PMID:20735616] GO:0098664 biolink:NamedThing G protein-coupled serotonin receptor signaling pathway The series of molecular signals generated as a consequence of a G protein-coupled serotonin receptor binding to one of its physiological ligands. tmpxe7fu0cj_hp_relaxed.owl G-protein coupled serotonin receptor signaling pathway dos 2016-12-21T12:07:58Z biological_process owl:Class GO:0007210 biolink:NamedThing serotonin receptor signaling pathway The series of molecular signals generated as a consequence of a serotonin receptor binding to one of its physiological ligands. tmpxe7fu0cj_hp_relaxed.owl serotonin receptor signalling pathway biological_process owl:Class HP:0007411 biolink:NamedThing Hypoplastic-absent sebaceous glands tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844617 human_phenotype owl:Class UBERON:0007417 biolink:NamedThing peduncle of neuraxis tmpxe7fu0cj_hp_relaxed.owl neuraxis peduncle FMA:83860 uberon owl:Class CHEBI:28050 biolink:NamedThing homocarnosine A histidine derivative that is histidine in which one of the hydrogens attached to the alpha-amino group has been replaced by a 4-aminobutanoyl group. tmpxe7fu0cj_hp_relaxed.owl N-(4-aminobutyryl)histidine|N-(4-aminobutanoyl)histidine|gamma-Aminobutyryl histidine 0 C10H16N4O3 InChI=1S/C10H16N4O3/c11-3-1-2-9(15)14-8(10(16)17)4-7-5-12-6-13-7/h5-6,8H,1-4,11H2,(H,12,13)(H,14,15)(H,16,17) CCLQKVKJOGVQLU-UHFFFAOYSA-N 240.25900 240.12224 NCCCC(=O)NC(Cc1c[nH]cn1)C(O)=O Reaxys:11612459 CHEBI:5750|CHEBI:24607 chebi_ontology owl:Class CHEBI:24780 biolink:NamedThing imidazoles A five-membered organic heterocycle containing two nitrogen atoms at positions 1 and 3, or any of its derivatives; compounds containing an imidazole skeleton. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class GO:0042552 biolink:NamedThing myelination The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. tmpxe7fu0cj_hp_relaxed.owl myelinogenesis Wikipedia:Myelin biological_process owl:Class GO:0008366 biolink:NamedThing axon ensheathment Any process in which the axon of a neuron is insulated, and that insulation maintained, thereby preventing dispersion of the electrical signal. tmpxe7fu0cj_hp_relaxed.owl nerve ensheathment|cellular nerve ensheathment|cellular axon ensheathment GO:0042553 biological_process owl:Class HP:0030022 biolink:NamedThing Question mark ear Cleft between the helix and the lobe. tmpxe7fu0cj_hp_relaxed.owl Constricted ear|Question mark ears|Cosman ear|Question mark ear UMLS:C3888103 Relatively few cases have been reported. Variation from a small notch to complete separation of the helix from the lobe is noted, there may be unilateral or bilateral involvement. The lobe is relatively laterally recessed compared to the upper portion of the ear and the scapha may be absent. This is distinct from a Cleft helix where the cleft is within the helix. owl:Class PATO:0000600 biolink:NamedThing increased width A width which is relatively large. tmpxe7fu0cj_hp_relaxed.owl wide|broad|wide/broad quality owl:Class PATO:0000586 biolink:NamedThing increased size A size quality which is relatively high. tmpxe7fu0cj_hp_relaxed.owl large|enlarged|big|great|expanded PATO:0001202 quality owl:Class HP:0030931 biolink:NamedThing 1-minute APGAR score of 4 tmpxe7fu0cj_hp_relaxed.owl 2016-11-07 18:16:29+00:00 robinp owl:Class HP:0030918 biolink:NamedThing Low 1-minute APGAR score tmpxe7fu0cj_hp_relaxed.owl Low one-minute APGAR score 2016-11-07 18:06:34+00:00 A normal APGAR score can be coded as 'not Low 1-minute APGAR score'. robinp owl:Class MPATH:175 biolink:NamedThing healing and repair process The process, normal or abnormal, of damage repair or wound closure. tmpxe7fu0cj_hp_relaxed.owl George Gkoutos mouse_pathology.ontology owl:Class MPATH:596 biolink:NamedThing pathological process The organic response of tissues to external insult, injury or underlying genetic or epigenetic lesion. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0011056 biolink:NamedThing Agenesis of first permanent molar tooth Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both. tmpxe7fu0cj_hp_relaxed.owl Absence of six year molar|Failure of development of first permanent molar|Missing six year molar|Absence of first permanent molar|Missing first permanent molar|Failure of development of six year molar|Agenesis of six year molar UMLS:C4023562|UMLS:C4280346 peter 2011-03-10T11:45:27Z human_phenotype owl:Class HP:0011055 biolink:NamedThing Agenesis of permanent molar Agenesis of secondary molar tooth. tmpxe7fu0cj_hp_relaxed.owl Failure of development of permanent molar|Absence of adult molar|Failure of development of secondary molar|Missing permanent molar|Agenesis of secondary molar|Missing adult molar|Absence of permanent molar UMLS:C4023563|UMLS:C4280347 peter 2011-03-10T11:44:27Z human_phenotype owl:Class HP:0003086 biolink:NamedThing Acromesomelia Small hands and feet. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1864365 human_phenotype owl:Class HP:0003027 biolink:NamedThing Mesomelia Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. tmpxe7fu0cj_hp_relaxed.owl Disproportionately short middle portion of limb|Mesomelic limb shortening|Mesomelic shortening of limbs|Symmetric mesomelic limb shortness UMLS:C0549306 Shortening of the limbs where the predominant shortness is in the middle bones. human_phenotype owl:Class GO:0001976 biolink:NamedThing nervous system process involved in regulation of systemic arterial blood pressure tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0048935 biolink:NamedThing peripheral nervous system neuron development The process whose specific outcome is the progression of a neuron whose cell body is located in the peripheral nervous system, from initial commitment of the cell to a neuronal fate, to the fully functional differentiated neuron. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010711 biolink:NamedThing 1-2 toe syndactyly Syndactyly with fusion of toes one and two. tmpxe7fu0cj_hp_relaxed.owl Webbed first and second toes|Webbed 1st-2nd toes UMLS:C4023726 sdoelken 2010-03-26T05:22:26Z owl:Class HP:0011294 biolink:NamedThing EEG with frontal sharp waves EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2206518 peter 2012-02-11T12:33:10Z human_phenotype owl:Class HP:0033716 biolink:NamedThing EEG with frontal epileptiform discharges Focal epileptiform EEG discharges recorded in the frontal region. tmpxe7fu0cj_hp_relaxed.owl 2021-04-07 12:41:46+00:00 peter owl:Class CHEBI:48999 biolink:NamedThing 4-hydroxyphenylacetate A monocarboxylic acid anion that is obtained by removal of a proton from the carboxylic acid group of 4-hydroxyphenylacetic acid. tmpxe7fu0cj_hp_relaxed.owl 4-hydroxyphenylacetate|(4-hydroxyphenyl)acetate|2-(4-hydroxyphenyl)ethanoate|(p-hydroxyphenyl)acetate|4-hydroxybenzeneacetate -1 C8H7O3 InChI=1S/C8H8O3/c9-7-3-1-6(2-4-7)5-8(10)11/h1-4,9H,5H2,(H,10,11)/p-1 XQXPVVBIMDBYFF-UHFFFAOYSA-M 151.13938 151.04007 Oc1ccc(CC([O-])=O)cc1 Reaxys:3905591|MetaCyc:4-HYDROXYPHENYLACETATE chebi_ontology owl:Class HP:0003691 biolink:NamedThing Scapular winging Abnormal protrusion of the scapula away from the surface of the back. tmpxe7fu0cj_hp_relaxed.owl Scapula alata|Winged scapulae|Winged shoulder blade|Scapular weakness|Winged scapulas UMLS:C4072849|SNOMEDCT_US:17211005|MEDDRA:10067628|UMLS:C0240953 The serratus anterior muscle is responsible for controlling the scapula (shoulder blade), and weakness of this muscle (which may be caused by damage to the long thoracic nerve) can manifest as scular winging. HP:0000783 human_phenotype owl:Class HP:0011473 biolink:NamedThing Villous atrophy The enteric villi are atrophic or absent. tmpxe7fu0cj_hp_relaxed.owl Variable degree of villous atrophy|Atrophy of small intestinal villi|Villous degeneration|Small intestine biopsy shows villous atrophy|Biopsy shows villous atrophy|Duodenal villous atrophy UMLS:C0267456|UMLS:C4020747|UMLS:C1859541|UMLS:C1833058|UMLS:C2677378|UMLS:C0554101|SNOMEDCT_US:75581001|SNOMEDCT_US:275403002 peter 2012-03-26T08:18:31Z owl:Class HP:0011472 biolink:NamedThing Abnormality of small intestinal villus morphology tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of small intestinal villus UMLS:C4023341 peter 2012-03-26T08:16:03Z human_phenotype owl:Class HP:0012655 biolink:NamedThing Elevated CSF dopamine level Increased concentration of dopamine in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022801 peter 2014-02-15T10:36:53Z human_phenotype owl:Class GO:0030656 biolink:NamedThing regulation of vitamin metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpxe7fu0cj_hp_relaxed.owl regulation of vitamin metabolism biological_process owl:Class HP:0007325 biolink:NamedThing Generalized dystonia A type of dystonia that affects all or most of the body. tmpxe7fu0cj_hp_relaxed.owl Generalised dystonia SNOMEDCT_US:425492002|UMLS:C1848954 human_phenotype owl:Class HP:0032867 biolink:NamedThing Refractory status epilepticus Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0002133 biolink:NamedThing Status epilepticus Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. tmpxe7fu0cj_hp_relaxed.owl Repeated seizures without recovery between them|Repeated seizure without recovery|Prolonged seizure MSH:D013226|UMLS:C0038220|SNOMEDCT_US:230456007 In 2015 the ILAE Task Force on Classification of Status Epilepticus concluded that the evidence to define time points 1 and 2 in humans was incomplete. For tonic-clonic status epilepticus t1 is defined as 5 minutes and t2 as 30 minutes. For focal status epilepticus with impaired consciousness t1 is defined as 10 minutes and t2 over 60 minutes. For absence status epilepticus t1 is defined as 10-15 minutes and t2 is unknown. human_phenotype owl:Class GO:0010758 biolink:NamedThing regulation of macrophage chemotaxis Any process that modulates the rate, frequency or extent of macrophage chemotaxis. Macrophage chemotaxis is the movement of a macrophage in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009413 biolink:NamedThing Enlarged epiphyses of the 3rd finger Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of middle finger bone UMLS:C4024380 doelkens 2009-01-14T02:01:59Z human_phenotype owl:Class CHEBI:63299 biolink:NamedThing carbohydrate derivative Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds. tmpxe7fu0cj_hp_relaxed.owl derivatised carbohydrate|derivatized carbohydrate|derivatised carbohydrates|carbohydrate derivatives|derivatized carbohydrates chebi_ontology owl:Class CHEBI:78616 biolink:NamedThing carbohydrates and carbohydrate derivatives Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation. tmpxe7fu0cj_hp_relaxed.owl carbohydrates and their derivatives|carbohydrates and derivatives chebi_ontology owl:Class GO:0030500 biolink:NamedThing regulation of bone mineralization Any process that modulates the frequency, rate or extent of bone mineralization. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100246 biolink:NamedThing Osteoma Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0029440|SNOMEDCT_US:302858007|SNOMEDCT_US:83612000|NCIT:C3296|MSH:D010016 doelkens 2010-07-08T11:38:30Z human_phenotype owl:Class HP:0410202 biolink:NamedThing Positive stool barbiturate test Detection of barbiturate metabolites such as phenobarbital in the stool. tmpxe7fu0cj_hp_relaxed.owl 2018-07-20 23:04:11+00:00 owl:Class HP:0500097 biolink:NamedThing Stool xenobiotic Presence of xenobiotic in stool. tmpxe7fu0cj_hp_relaxed.owl 2018-05-21 13:42:31+00:00 owl:Class HP:0011099 biolink:NamedThing Spastic hemiparesis Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes. tmpxe7fu0cj_hp_relaxed.owl Spastic hemiplegia UMLS:C0154694|MSH:D006429|SNOMEDCT_US:79633009 peter 2011-06-04T09:10:40Z owl:Class CHEBI:138366 biolink:NamedThing bile acids Any member of a group of hydroxy steroids occuring in bile, where they are present as the sodium salts of their amides with glycine or taurine. In mammals bile acids almost invariably have 5beta-configuration, while in lower vertebrates, some bile acids, known as allo-bile acids, have 5alpha-configuration. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:35350 biolink:NamedThing hydroxy steroid tmpxe7fu0cj_hp_relaxed.owl Hydroxysteroid|hydroxysteroids|hydroxy steroids KEGG:C02159 CHEBI:24748|CHEBI:5814 chebi_ontology owl:Class HP:0010181 biolink:NamedThing Duplication of phalanx of toe Partial/complete duplication of one or more phalanx of toe. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the phalanges of the toes|Duplicated toe bone UMLS:C4021328 doelkens 2009-05-29T01:39:26Z human_phenotype owl:Class UBERON:0012430 biolink:NamedThing tunica fibrosa of eyeball The sclera and cornea form the fibrous tunic of the bulb of the eye; the sclera is opaque, and constitutes the posterior five-sixths of the tunic; the cornea is transparent, and forms the anterior sixth. tmpxe7fu0cj_hp_relaxed.owl corneosclera|fibrous layer of eyeball|tunica fibrosa|fibrous tunic FMA:58102|Wikipedia:Fibrous_tunic_of_eyeball|SCTID:361318005 uberon owl:Class HP:0007027 biolink:NamedThing Poorly formed metencephalon A morphological abnormality of the metencephalon. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024951 The metencephalon comprises the pons and the cerebellum; contains a portion of the fourth ventricle; and the trigeminal nerve, abducens nerve, facial nerve, and a portion of the vestibulocochlear nerve. The metencephalon is part of the hindbrain. human_phenotype owl:Class HP:0001350 biolink:NamedThing Slurred speech Abnormal coordination of muscles involved in speech. tmpxe7fu0cj_hp_relaxed.owl Slurred speech UMLS:C0234518|SNOMEDCT_US:289195008 owl:Class PATO:0000133 biolink:NamedThing orientation A spatial quality inhering in a bearer by virtue of the bearer's placement which is defined by the angle between the bearer and an axis, or the angle between the bearer and another object. tmpxe7fu0cj_hp_relaxed.owl angular placement|amount of rotation|plane angle|angle|angular magnitude PATO:0000137 quality owl:Class GO:0045915 biolink:NamedThing positive regulation of catecholamine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving catecholamine. tmpxe7fu0cj_hp_relaxed.owl upregulation of catecholamine metabolic process|up-regulation of catecholamine metabolic process|up regulation of catecholamine metabolic process|stimulation of catecholamine metabolic process|positive regulation of catecholamine metabolism|activation of catecholamine metabolic process biological_process owl:Class UBERON:0015095 biolink:NamedThing distal carpal bone 4 pre-cartilage condensation A distal carpal bone 4 endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0007651 biolink:NamedThing anatomical junction An anatomical structure that connects two structures. tmpxe7fu0cj_hp_relaxed.owl anatomical junction|junction SCTID:91833003|FMA:5898 uberon owl:Class UBERON:0002364 biolink:NamedThing tympanic membrane A thin membrane that separates the external ear from the middle ear, consisting of two epithelia (one part of the the external accoustic meatus epithelium, the other part of the tympanic cavity epithelium) with a fibrous layer between them. Its function is to transmit sound from the air to the ossicles inside the middle ear. The malleus bone bridges the gap between the eardrum and the other ossicles. Rupture or perforation of the eardrum can lead to conductive hearing loss. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl Rivinus' membrane|ear drum|lateral wall of tympanic cavity|paries membranaceus cavi tympani|eardrum|membranous wall of tympanic cavity|myrinx|tympanum UMLS:C0041445|GAID:870|FMA:9595|XAO:0000212|MESH:A09.246.397.873|VHOG:0001146|NCIT:C12502|EMAPA:19062|EV:0100358|MA:0000257 uberon owl:Class The thin membrane which closes externally the cavity of the middle ear and is deeply sited at the bottom of the external auditory meatus. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] In particular, a tympanic membrane was not present in the earliest tetrapods (...). An ear utilizing a tympanic membrane evolved independently at least three times in tetrapods: (1) in the lineage that leads to anurans (frogs), (2) in the line of evolution to turtles and diapsids, and (3) in the late synapsid lineage that gave rise to mammals.[well established][VHOG] The tympanic membrane (TM) has three layers, two epithelia provided by the external acoustic meatus (EAM) and the MEC, derived respectively from the first pharyngeal cleft and pouch, and a mesenchymally derived fibrous stratum most AOs consider this part of the middle ear, so we go with this and place it in the middle ear as a border to the external, although it could be considered to overlap the external ear in that it has an EAM layer as part - for this reason we do not consider middle and external ear to be spatially disjoint. CL:2000029 biolink:NamedThing central nervous system neuron Any neuron that is part of a central nervous system. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-06-25T01:17:43Z cell owl:Class HP:0009307 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 4th finger Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the middle bone of the ring finger UMLS:C4024454 doelkens 2009-01-08T04:59:22Z human_phenotype owl:Class HP:0009848 biolink:NamedThing Patchy sclerosis of middle phalanx of finger Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the middle finger bones of the hand|Patchy sclerosis of the middle phalanges of the hand UMLS:C4021382 doelkens 2009-03-11T12:15:55Z HP:0009870 human_phenotype owl:Class HP:0031987 biolink:NamedThing Diminished ability to concentrate Being unable to focus one's attention or mental effort on a particular object or activity. tmpxe7fu0cj_hp_relaxed.owl Poor concentration|Concentration problems|Lack of concentration 2018-07-09 01:48:46+00:00 peter owl:Class HP:0000481 biolink:NamedThing Abnormal cornea morphology Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. tmpxe7fu0cj_hp_relaxed.owl Corneal abnormalities|Abnormality of the cornea|Cornela disease|Corneal abnormality UMLS:C1855670|UMLS:C4020889 HP:0007972|HP:0007771 human_phenotype owl:Class CHEBI:58314 biolink:NamedThing (2R)-2-hydroxy monocarboxylic acid anion A hydroxy monocarboxylic acid anion where the hydroxy group is placed at position 2 (alpha to the carboxy group) and has (R)-stereochemistry; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl a (2R)-2-hydroxycarboxylate|(2R)-alpha-hydroxy monocarboxylic acid anions|(R)-2-hydroxyacid anion|(2R)-2-hydroxy monocarboxylic acid anions|(R)-2-hydroxyacid anions|(2R)-alpha-hydroxy monocarboxylic acid anion|(2R)-2-hydroxycarboxylate -1 C2H2O3R 74.036 74.00039 O[C@H]([*])C([O-])=O MetaCyc:2R-hydroxy-carboxylates chebi_ontology owl:Class HP:0030154 biolink:NamedThing Gallbladder perforation Rupture of the wall of the gallbladder. tmpxe7fu0cj_hp_relaxed.owl Gall bladder perforation SNOMEDCT_US:25345001|UMLS:C0156215 Clinical presentation of a ruptured gallbladder can range from an acute generalised peritonitis to benign non-specific abdominal symptom. Gallbladder perforation is a rare but life-threatening complication of acute cholecystitis, with a reported mortality rate of 12 to 42 percent. The bile leak from a ruptured gallbladder might be contained in the extra peritoneal gallbladder fossa, and hence might not produce symptoms of peritonitis immediately. owl:Class PR:Q63961 biolink:NamedThing endoglin (mouse) An endoglin that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl mENG|Edg|CD105 (mouse)|cell surface MJ7/18 antigen (mouse)|Eng UniProtKB:Q63961 Category=organism-gene. protein owl:Class GO:0051380 biolink:NamedThing norepinephrine binding Binding to norepinephrine, (3,4-dihydroxyphenyl-2-aminoethanol), a hormone secreted by the adrenal medulla and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS. It is also the biosynthetic precursor of epinephrine. tmpxe7fu0cj_hp_relaxed.owl noradrenaline binding molecular_function owl:Class CHEBI:59558 biolink:NamedThing medium-chain fatty acid anion A fatty acid anion resulting from the deprotonation of the carboxylic acid moiety of a medium-chain fatty acid. tmpxe7fu0cj_hp_relaxed.owl a medium chain fatty acid|medium-chain FA anions|medium-chain fatty acid anions|medium-chain FA anion|MCFA anions|MCFA anion -1 CO2R 44.010 43.98983 [O-]C([*])=O chebi_ontology owl:Class HP:0009270 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of the innermost bone of ring finger UMLS:C4024479 doelkens 2009-01-07T12:12:59Z human_phenotype owl:Class UBERON:0008783 biolink:NamedThing dorsal venous arch The dorsal venous arch of the foot is a superficial vein that connects the small saphenous vein and the great saphenous vein. Anatomically, it is defined by where the dorsal veins of the first and fifth digit, respectively, meet the great saphenous vein and small saphenous vein. tmpxe7fu0cj_hp_relaxed.owl dorsal venous arch of foot|arcus venosus dorsalis pedis MA:0002110|EMAPA:37521|FMA:44356 http://upload.wikimedia.org/wikipedia/commons/4/4e/Gray581.png uberon owl:Class HP:0003957 biolink:NamedThing Cortical thickening of the forearm bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021842 human_phenotype owl:Class HP:0040070 biolink:NamedThing Abnormal upper limb bone morphology tmpxe7fu0cj_hp_relaxed.owl Abnormality of upper limb bone|Abnormal morphology of bones of the upper limbs|Abnormal shape of bones of the upper limbs UMLS:C4022454|UMLS:C4022458 HPO:skoehler owl:Class HP:0010114 biolink:NamedThing Bracket epiphyses of the hallux tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of big toe bone UMLS:C4024045 doelkens 2009-05-29T01:16:38Z human_phenotype owl:Class UBERON:0002456 biolink:NamedThing internal thoracic artery An artery that supplies the anterior chest wall and the breasts. It is a paired artery, with one running along each side of the sternum, to continue after its bifurcation as the superior epigastric and musculophrenic arteries. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl arteria thoracica interna|mammary artery|internal thoracic mammary artery|internal mammary artery|arteria mammaria interna EMAPA:18617|UMLS:C0226276|EHDAA:8585|FMA:3960|NCIT:C52941|MA:0001982|EHDAA2:0000880|MA:0001984|OpenCyc:Mx4rMe0MIao8EduQrwACs5b6Bw http://upload.wikimedia.org/wikipedia/commons/5/5c/Gray522.png uberon owl:Class MA has both mammary and thoracic UBERON:0003446 biolink:NamedThing ankle nerve A nerve that is part of an ankle [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nerve of ankle|neural network of ankle|tarsal region nerve EMAPA:37346|MA:0000640 uberon owl:Class FMA placement dubious UBERON:0006217 biolink:NamedThing cloacal membrane The membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings. tmpxe7fu0cj_hp_relaxed.owl embryonic cloacal membrane|membrana cloacalis NCIT:C34128|EHDAA:2933|EHDAA:214|VHOG:0001198|EHDAA2:0000257|UMLS:C0231056|FMA:295525|EMAPA:16832 http://upload.wikimedia.org/wikipedia/commons/d/d2/Gray991.png uberon owl:Class A membrane that separates the proctodeum and the hindgut in the early embryo. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Vertebrates:_Comparative_Anatomy, p.497, see_Kardong_KV][VHOG] In mammals, the cloaca exists as an embryonic structure that undergoes septation to become distinct urethral, anal, and genital orifices.[well established][VHOG] HP:0003948 biolink:NamedThing Irregular epiphyses of the elbow tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the elbow bone UMLS:C4025486 human_phenotype owl:Class HP:0011221 biolink:NamedThing Vertical forehead creases Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest. tmpxe7fu0cj_hp_relaxed.owl Vertical forehead wrinkles|Frontal creases of face|Vertical forehead rhytids|Vertical forehead creases UMLS:C4023456 peter 2011-12-07T09:55:15Z human_phenotype owl:Class HP:0001775 biolink:NamedThing Tarsal osteovalgus tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025748 human_phenotype owl:Class HP:0006722 biolink:NamedThing Small intestine carcinoid tmpxe7fu0cj_hp_relaxed.owl UMLS:C1868072 human_phenotype owl:Class HP:0500242 biolink:NamedThing Increased CSF homocarnosine concentration Abnormally increased levels of homocarnosine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High homocarnosine levels in cerebrospinal fluid 2019-02-26 15:26:24+00:00 owl:Class HP:0500241 biolink:NamedThing Abnormal CSF homocarnosine concentration Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal homocarnosine levels in cerebrospinal fluid 2019-02-26 15:26:01+00:00 owl:Class UBERON:0002414 biolink:NamedThing lumbar vertebra Large vertebra of the movable part of the vertebral column, characterized by the absence of the foramen transversarium within the transverse process, and by the absence of facets on the sides of the body. tmpxe7fu0cj_hp_relaxed.owl GAID:240|EMAPA:18007|FMA:9921|MA:0000312|CALOHA:TS-2364|UMLS:C0024091|MESH:D008159|OpenCyc:Mx4rvaOek5wpEbGdrcN5Y29ycA|galen:LumbarVertebra|NCIT:C12744 http://upload.wikimedia.org/wikipedia/commons/c/c8/Gray93.png uberon owl:Class Whereas all rats had six lumbar vertebrae, variable patterns in mice included mostly five vertebrae in DBA/2J, mostly six vertebrae in C57BL/6J, and a mix in B6129PF2/J UBERON:0015009 biolink:NamedThing lumbar vertebra endochondral element A lumbar vertebra bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl lumbar vertebra element|lumbar vertebra skeletal element uberon owl:Class GO:0046851 biolink:NamedThing negative regulation of bone remodeling Any process that stops, prevents, or reduces the frequency, rate or extent of bone remodeling. tmpxe7fu0cj_hp_relaxed.owl down regulation of bone remodeling|inhibition of bone remodeling|down-regulation of bone remodeling|downregulation of bone remodeling biological_process owl:Class GO:0034104 biolink:NamedThing negative regulation of tissue remodeling Any process that stops, prevents, or reduces the frequency, rate, or extent of tissue remodeling. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0000002 biolink:NamedThing uterine cervix Lower, narrow portion of the uterus where it joins with the top end of the vagina. tmpxe7fu0cj_hp_relaxed.owl cervix|cervix of uterus|cervical canal|cervical canal of uterus|canalis cervicis uteri|neck of uterus|caudal segment of uterus|uterine cervix|cervix uteri EV:0100114|FMA:17740|OpenCyc:Mx4rvVipEJwpEbGdrcN5Y29ycA|galen:CervixUteri|BTO:0001421|GAID:376|MAT:0000292|NCIT:C12311|EMAPA:29927|VHOG:0001359|UMLS:C0007874|MA:0000392|EFO:0000979|BTO:0002249|CALOHA:TS-0134|MESH:D002584 uberon owl:Class The narrow caudal end of the uterus that opens into the vagina. [TFD][VHOG] The evolution of mammals is associated with radical changes in their reproductive biology, particularly the structure and function of the female reproductive organs. These changes include the evolution of the uterus, cervix, vagina, placenta and specialized cell types associated with each of those structures.[well established][VHOG] cervical GO:0045321 biolink:NamedThing leukocyte activation A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. tmpxe7fu0cj_hp_relaxed.owl leucocyte activation|immune cell activation Wikipedia:Immunologic_activation biological_process owl:Class HP:0010797 biolink:NamedThing Hemangioblastoma A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter. tmpxe7fu0cj_hp_relaxed.owl Haemangioblastoma UMLS:C0206734|MSH:D018325|SNOMEDCT_US:81201000|NCIT:C3801 peter 2010-06-25T09:18:32Z human_phenotype owl:Class HP:0100835 biolink:NamedThing Benign neoplasm of the central nervous system tmpxe7fu0cj_hp_relaxed.owl Benign neoplasm of the CNS UMLS:C0347509|SNOMEDCT_US:92048008 doelkens 2011-06-09T06:08:47Z human_phenotype owl:Class UBERON:0003567 biolink:NamedThing abdomen connective tissue A portion of connective tissue that is part of an abdomen [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl abdomen textus connectivus|abdomen portion of connective tissue|portion of connective tissue of abdomen|textus connectivus of abdomen|connective tissue of abdomen MA:0000519 uberon owl:Class UBERON:0010540 biolink:NamedThing tarsus pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a tarsal bone. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001978 uberon owl:Class UBERON:0015050 biolink:NamedThing tarsus endochondral element A tarsus bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl tarsus skeletal element|tarsus element uberon owl:Class UBERON:0004205 biolink:NamedThing inner medullary collecting duct The inner medullary collecting duct is the portion of the collecting duct that lies in the renal inner medulla. tmpxe7fu0cj_hp_relaxed.owl inner renal medulla collecting duct|kidney inner medulla collecting duct|papillary collecting duct EMAPA:28370|MA:0002598|BTO:0004544 UBERON:0005187 uberon owl:Class UBERON:0001232 biolink:NamedThing collecting duct of renal tubule The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient. tmpxe7fu0cj_hp_relaxed.owl kidney collecting tubule|collecting duct|junctional tube|collecting duct system|tubulus renalis colligens|renal collecting tubule|tubulus renalis arcuatus|ureteric tree|kidney collecting duct|collecting tubule|arcuate renal tubule CALOHA:TS-0860|MESH:D007685|BTO:0000761|GAID:434|TAO:0005294|MA:0000371|FMA:15628|EV:0100391|ZFA:0005294|EMAPA:28407 uberon owl:Class Renal duct that collects the output from renal tubules.[TAO] in ISBN:0073040584 (Vertebrates, Kardong), the nephron is adjacent to the collecting tubule, consistent with FMA, but not GO. Wikipedia says: Many sources include the connecting tubule as part of the collecting duct system. However, the embryological origin is more similar to the nephron than it is to the rest of the collecting duct (which derives from the ureteric bud), and other sources therefore classify the connecting tubule with the nephron UBERON:0007147 biolink:NamedThing lumen of midgut An anatomical cavity that surrounded_by a midgut. tmpxe7fu0cj_hp_relaxed.owl midgut lumen FMA:54366|EMAPA:18377 uberon owl:Class HP:0032809 biolink:NamedThing Neonatal electro-clinical seizure Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation. tmpxe7fu0cj_hp_relaxed.owl The predominant clinical feature defines the neonatal electro-clinical seizure sub-types; unlike in adults, where the semiology at onset defines the seizure type. peter owl:Class HP:0032808 biolink:NamedThing Neonatal seizure with electrographic correlate Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation. tmpxe7fu0cj_hp_relaxed.owl Neonatal seizures need to be considered as a special category because of biological peculiarities, such as the immaturity of the neonatal central nervous system. Therefore, seizures are defined first as an electrographic event, that can be associated or not with clinical manifestations. Seizure types are further classified following ILAE 2017 seizure classification, however awarness is not assessable in neonates. The distinction motor vs. non motor seizure is kept, but here it reflects the predominant clinical manifestation, rather than the onset of the seizure as in adult classification. peter owl:Class HP:0010639 biolink:NamedThing Elevated alkaline phosphatase of bone origin An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated alkaline phosphatase of bone origin|Increased serum bone-specific alkaline phosphatase|Elevated ALP of bone origin UMLS:C1833667 Bone alkaline phosphatase (BALP) is encoded by the tissue non-specific form of alkaline phosphatase and thus is an isoform of this isoenzyme. doelkens 2009-12-11T03:47:19Z HP:0008266 owl:Class HP:0010679 biolink:NamedThing Elevated tissue non-specific alkaline phosphatase An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated tissue non-specific ALP|Elevated alkaline phosphatase, liver/bone/kidney UMLS:C4021240 Tissue non-specific alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 249, Uniprot P05186 (PPBT_HUMAN). The gene is also known as alkaline phosphatase, liver/bone/kidney (ALPL). doelkens 2010-03-05T11:08:35Z owl:Class GO:1903552 biolink:NamedThing negative regulation of extracellular exosome assembly Any process that stops, prevents or reduces the frequency, rate or extent of extracellular vesicular exosome assembly. tmpxe7fu0cj_hp_relaxed.owl inhibition of extracellular vesicular exosome assembly|negative regulation of extracellular vesicular exosome assembly|downregulation of extracellular vesicular exosome assembly|down regulation of extracellular vesicular exosome assembly|down-regulation of extracellular vesicular exosome assembly pga 2014-10-20T15:37:33Z biological_process owl:Class HP:0002540 biolink:NamedThing Inability to walk Incapability to ambulate. tmpxe7fu0cj_hp_relaxed.owl Non-ambulatory|Inability to walk SNOMEDCT_US:282145008|UMLS:C0560046 owl:Class UBERON:0013761 biolink:NamedThing cervical cavity The cavity formed by the walls of the cervix. tmpxe7fu0cj_hp_relaxed.owl lumen of cervix of uterus|cervical canal of uterus|canal of the cervix|endocervical canal|endocervical|cervical canal|endocervix|cavity of cervix FMA:17746|BTO:0002249 uberon owl:Class UBERON:0014530 biolink:NamedThing white matter lamina of neuraxis tmpxe7fu0cj_hp_relaxed.owl lamina of neuraxis|neuraxis lamina FMA:83856 uberon owl:Class HP:0010241 biolink:NamedThing Short proximal phalanx of finger Congenital hypoplasia of one or more proximal phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Short proximal phalanges|Short proximal phalanx of finger|Shortening in proximal phalanges|Hypoplasia of the proximal phalanges of the hand|Short innermost finger bones UMLS:C1860606 doelkens 2009-07-06T04:00:44Z HP:0006138|HP:0005670 human_phenotype owl:Class HP:0009851 biolink:NamedThing Aplasia/Hypoplasia of the proximal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Absent/small innermost finger bones of the hand|Absent/underdeveloped innermost finger bones of the hand UMLS:C4024182 doelkens 2009-03-11T12:16:33Z human_phenotype owl:Class HP:0000023 biolink:NamedThing Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:396232000|MEDDRA:10022016|UMLS:C0019294|MSH:D006552 Inguinal hernia appears as a bulge in the groin. human_phenotype owl:Class HP:0004299 biolink:NamedThing Hernia of the abdominal wall The presence of a hernia in the abdominal wall. tmpxe7fu0cj_hp_relaxed.owl Herniated abdominal wall UMLS:C1442978|SNOMEDCT_US:128545000|Fyler:4414 A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia. peter 2008-02-20T11:42:00Z human_phenotype owl:Class GO:0072594 biolink:NamedThing establishment of protein localization to organelle The directed movement of a protein to a specific location on or in an organelle. Encompasses establishment of localization in the membrane or lumen of a membrane-bounded organelle. tmpxe7fu0cj_hp_relaxed.owl establishment of protein localisation to organelle mah 2011-02-14T01:56:51Z biological_process owl:Class GO:0090331 biolink:NamedThing negative regulation of platelet aggregation Any process that decreases the rate, frequency or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules. tmpxe7fu0cj_hp_relaxed.owl platelet disaggregation tb 2010-05-14T10:46:08Z biological_process owl:Class HP:0025494 biolink:NamedThing Coated aorta Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 19:37:34+00:00 This feature is characteristic of Erdheim Chester disease. HPO:probinson owl:Class HP:0030053 biolink:NamedThing Stiff skin An induration (hardening) of the skin tmpxe7fu0cj_hp_relaxed.owl Indurated skin|Stiff skin UMLS:C3276815 owl:Class GO:1902816 biolink:NamedThing regulation of protein localization to microtubule Any process that modulates the frequency, rate or extent of protein localization to microtubule. tmpxe7fu0cj_hp_relaxed.owl regulation of protein localisation to microtubule tb 2014-03-27T22:07:12Z biological_process owl:Class HP:0033693 biolink:NamedThing Phantosmia Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor. tmpxe7fu0cj_hp_relaxed.owl Phantom smell|Phantom odor|Phantom odour|Olfactory hallucination 2021-03-07 22:57:41+00:00 Phantosmia has been documented in individuals with epileptic seizures, schizophrenia, depression, migraine, and otorhinolaryngology problems. Phantosmia occurs in a variety of clinical conditions, and its causes are yet unknown. Prior accounts have suggested that the phantosmic sensations originate either in the peripheral olfactory nervous system or in central brain regions, such as the amygdala and the orbital frontal cortex. Patients who experienced phantosmia following head trauma were characterized by left frontal atrophy, suggestive of a cortical origin. However, a patient study reported successfully resolving phantosmia in 7 out of 8 patients through excision of the olfactory epithelium, suggesting also peripheral olfactory system involvement. peter owl:Class PR:P27814 biolink:NamedThing killer cell lectin-like receptor subfamily B member 1C (mouse) A killer cell lectin-like receptor subfamily B member 1C that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl Klrb1c|mKlrb1c|NKR-P1 40 (mouse)|NK1.1 (mouse)|NKR-P1.9 (mouse)|Ly55c|CD161c (mouse)|natural killer cell surface protein P1-40 (mouse)|Ly-55c (mouse)|CD161 antigen-like family member C (mouse)|Nkrp1c|NKR-P1C (mouse)|lymphocyte antigen 55c (mouse) UniProtKB:P27814 Category=organism-gene. protein owl:Class PR:000002977 biolink:NamedThing killer cell lectin-like receptor subfamily B member 1C A KLRB1-like protein that is a translation product of the mouse Klrb1c gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl Klrb1c|Ly55c|CD161 antigen-like family member C|NKR-P1.9|natural killer cell surface protein P1-40|CD161c|NKR-P1C|Nkrp1c|NKR-P1 40|lymphocyte antigen 55c|ly-55c|NK1.1 Category=gene. Requested by=CL. protein owl:Class CL:0000209 biolink:NamedThing taste receptor cell A cell type found in the spherical or ovoid clusters of receptor cells found mainly in the epithelium of the tongue and constituting the end organs of the sense of taste. tmpxe7fu0cj_hp_relaxed.owl taste bud cell FMA:67910 cell owl:Class CL:0000895 biolink:NamedThing naive thymus-derived CD4-positive, alpha-beta T cell An antigen inexperienced CD4-positive, alpha-beta T cell with the phenotype CCR7-positive, CD127-positive and CD62L-positive. This cell type develops in the thymus. This cell type is also described as being CD25-negative, CD62L-high, and CD44-low. tmpxe7fu0cj_hp_relaxed.owl naive thymus-derived CD4-positive, alpha-beta T lymphocyte|naive thymus-derived CD4-positive, alpha-beta T-lymphocyte|naive thymus-derived CD4-positive, alpha-beta T-cell|naive CD4+ T cell|T.4Nve.Sp|Th0 These cells have not been exposed to antigen following thymic T-cell selection; found in blood and secondary lymphoid organs. This cell type is compatible with the HIPC Lyoplate markers for 'naive CD4+ T cell', but includes additional markers known to be expressed on naive CD4+ T cells. cell owl:Class CL:0000624 biolink:NamedThing CD4-positive, alpha-beta T cell A mature alpha-beta T cell that expresses an alpha-beta T cell receptor and the CD4 coreceptor. tmpxe7fu0cj_hp_relaxed.owl CD4-positive, alpha-beta T-lymphocyte|CD4-positive, alpha-beta T lymphocyte|CD4-positive, alpha-beta T-cell cell owl:Class UBERON:0034710 biolink:NamedThing spinal cord ventricular layer tmpxe7fu0cj_hp_relaxed.owl spinal cord lateral wall ventricular layer EHDAA2:0001267|EMAPA:17585 uberon owl:Class HP:0041230 biolink:NamedThing Fractured metatarsal bone of digit 4 A partial or complete breakage of the metatarsal bone of digit 4. tmpxe7fu0cj_hp_relaxed.owl bone metatarsal bone of digit 4 owl:Class HP:0025609 biolink:NamedThing Anterior blepharitis A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 22:52:54+00:00 HPO:probinson owl:Class CL:0000076 biolink:NamedThing squamous epithelial cell tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-1249 cell owl:Class UBERON:0009678 biolink:NamedThing tooth row Anatomical cluster consisting of adjacent teeth constituting a row. tmpxe7fu0cj_hp_relaxed.owl tooth rows|dental arcade|row of teeth ZFA:0001642|TAO:0001667|FMA:59415 uberon owl:Class UBERON:0034926 biolink:NamedThing anatomical row An anatomical collection that is arranged in a line. tmpxe7fu0cj_hp_relaxed.owl FBbt:00100152 resolve if this should be a subclass of or merged with aligned anatomical group. uberon owl:Class HP:0030604 biolink:NamedThing Abnormal fundus fluorescein angiography An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073074 owl:Class HP:0030601 biolink:NamedThing Abnormal posterior segment imaging tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073072 owl:Class HP:0030170 biolink:NamedThing Cystic artery pseudoaneurysm Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022601 owl:Class HP:0006261 biolink:NamedThing Abnormal phalangeal joint morphology of the hand tmpxe7fu0cj_hp_relaxed.owl Abnormality of the small joints of the hand|Abnormality of phalangeal joints of the hand UMLS:C4021604 peter 2008-03-28T02:55:00Z HP:0004266 human_phenotype owl:Class GO:0055020 biolink:NamedThing positive regulation of cardiac muscle fiber development Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle fiber development. tmpxe7fu0cj_hp_relaxed.owl activation of cardiac muscle fiber development|positive regulation of cardiac muscle fibre development|stimulation of cardiac muscle fiber development|up regulation of cardiac muscle fiber development|positive regulation of heart muscle fiber development|upregulation of cardiac muscle fiber development|up-regulation of cardiac muscle fiber development biological_process owl:Class UBERON:0002025 biolink:NamedThing stratum basale of epidermis The deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells. tmpxe7fu0cj_hp_relaxed.owl epidermis sensorial layer|rete Malphighii|basal cell layer of epidermis|Malpighian layer|basal epidermal layer|stratum germinativum|stratum basalis of epidermis|stratum germinosum|epidermal basal stratum|epidermis stratum germinativum|stratum germinosum of epidermis|basal layer of epidermis|epidermis stratum basale|basal cell layer of skin|stratum Malpighi|stratum basale|epidermis basal layer|rete Malpighii BTO:0000438|EMAPA:32779|FMA:67540|NCIT:C33466|ZFA:0001180|SCTID:419481005|UMLS:C0221925|XAO:0000041|NCIT:C33623|TAO:0001180|Wikipedia:Stratum_germinativum|MA:0000803|AAO:0010598 uberon owl:Class replaces damaged cells on outside of body consisting of non-keratinized, viable cells, in contrast to the outer (upper) layer of epidermis made up of keratinized, anucleated, non-viable cells GO:1901248 biolink:NamedThing positive regulation of lung ciliated cell differentiation Any process that activates or increases the frequency, rate or extent of lung ciliated cell differentiation. tmpxe7fu0cj_hp_relaxed.owl up regulation of lung ciliated cell differentiation|activation of lung ciliated cell differentiation|up-regulation of lung ciliated cell differentiation|upregulation of lung ciliated cell differentiation vk 2012-08-08T08:59:05Z biological_process owl:Class HP:0005213 biolink:NamedThing Pancreatic calcification The presence of abnormal calcium deposition lesions in the pancreas. tmpxe7fu0cj_hp_relaxed.owl Pancreatic calcifications UMLS:C1842406 human_phenotype owl:Class GO:0010934 biolink:NamedThing macrophage cytokine production The appearance of a macrophage cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. tmpxe7fu0cj_hp_relaxed.owl Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select one of the 'regulation' children terms. biological_process owl:Class GO:0061082 biolink:NamedThing myeloid leukocyte cytokine production Any process that contributes to cytokine production by a myeloid cell. tmpxe7fu0cj_hp_relaxed.owl Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select one of the 'regulation' children terms. dph 2010-04-13T11:29:42Z biological_process owl:Class HP:0041234 biolink:NamedThing Fractured bone of jaw A partial or complete breakage of the bone of jaw. tmpxe7fu0cj_hp_relaxed.owl bone bone of jaw owl:Class HP:0003840 biolink:NamedThing Delayed upper limb epiphyseal ossification A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs. tmpxe7fu0cj_hp_relaxed.owl Delayed maturation fo the end part of the upper limb bone UMLS:C4280544|UMLS:C4025560 human_phenotype owl:Class UBERON:0002008 biolink:NamedThing cardiac nerve plexus A plexus of nerves situated at the base of the heart that innervate the heart. tmpxe7fu0cj_hp_relaxed.owl cardiac plexus|heart autonomic plexus|autonomic nerve plexus of heart|autonomic plexus of heart|plexus cardiacus|heart autonomic nerve plexus FMA:6628|MA:0001138|UMLS:C0459528|EMAPA:37460|NCIT:C52833 http://upload.wikimedia.org/wikipedia/commons/7/77/Gray838.png uberon owl:Class CL:0000637 biolink:NamedThing chromophil cell of anterior pituitary gland A cell that stains readily in the anterior pituitary gland. tmpxe7fu0cj_hp_relaxed.owl FMA:83089 cell owl:Class UBERON:0004668 biolink:NamedThing fourth ventricle aperture One of: the 4th ventricle median or lateral apertures. tmpxe7fu0cj_hp_relaxed.owl aperture of 4th ventricle|aperture of fourth ventricle MA:0002945|FMA:242766 uberon owl:Class GO:1904943 biolink:NamedThing negative regulation of cardiac ventricle formation Any process that stops, prevents or reduces the frequency, rate or extent of cardiac ventricle formation. tmpxe7fu0cj_hp_relaxed.owl down regulation of cardiac ventricle formation|inhibition of cardiac ventricle formation|down-regulation of cardiac ventricle formation|downregulation of cardiac ventricle formation bc 2016-02-02T16:37:24Z biological_process owl:Class GO:1904413 biolink:NamedThing negative regulation of cardiac ventricle development Any process that stops, prevents or reduces the frequency, rate or extent of cardiac ventricle development. tmpxe7fu0cj_hp_relaxed.owl down-regulation of cardiac ventricle development|inhibition of cardiac ventricle development|downregulation of cardiac ventricle development|down regulation of cardiac ventricle development sl 2015-06-25T19:52:21Z biological_process owl:Class GO:0002733 biolink:NamedThing regulation of myeloid dendritic cell cytokine production Any process that modulates the frequency, rate, or extent of myeloid dendritic cell cytokine production. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0097530 biolink:NamedThing granulocyte migration The movement of a granulocyte within or between different tissues and organs of the body. tmpxe7fu0cj_hp_relaxed.owl pr 2013-11-11T14:00:44Z biological_process owl:Class HP:0410295 biolink:NamedThing Complete or near-complete absence of specific antibody response to tetanus vaccine The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 22:02:31+00:00 owl:Class HP:0410294 biolink:NamedThing Decreased specific antibody response to protein vaccine A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 22:02:23+00:00 owl:Class UBERON:0000378 biolink:NamedThing tongue muscle The muscular portion of the tongue. tmpxe7fu0cj_hp_relaxed.owl muscle organ of tongue|skeletal muscle tissue of tongue|tongue skeletal muscle tissue|muscle of tongue|musculi linguae|tongue skeletal muscle NCIT:C52707|Wikipedia:Muscles_of_tongue|UMLS:C1710437|VHOG:0001390|FMA:46689|BTO:0001386|EMAPA:17883|UMLS:C0448325|NCIT:C49301|SCTID:244781004|EHDAA:9146|EHDAA2:0002065|MA:0001596 http://upload.wikimedia.org/wikipedia/commons/c/c6/Gray1019.png uberon owl:Class The lamprey head contains another group of muscles, the epi- and hypo-branchial muscles (EBM and HBM), derivatives of anterior trunk myotomes. (...) The origin and the migration pattern of HBM precursors are very similar to that of the gnathostome MPP, especially to that of the tongue muscle precursors. Other evidence of homology of lamprey HBM to the gnathostome tongue muscle is that HBM is innervated by the nerve termed the hypoglossal nerve based on its morphological position associated with the head/trunk interface. (...) The HBM-specific expression of the LampPax3/7 gene is consistent with the homology of this muscle to the gnathostome tongue muscle, or to the hypobranchial series as a whole (including the infrahyoid and possibly the diaphragm in mammals).[well established][VHOG] UBERON:0010959 biolink:NamedThing craniocervical muscle Any muscle organ that is part of either the head or the neck. tmpxe7fu0cj_hp_relaxed.owl muscle of head or neck|muscle of head and neck UMLS:C0448281|NCIT:C32716 uberon owl:Class GO:0099577 biolink:NamedThing regulation of translation at presynapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the presynapse. tmpxe7fu0cj_hp_relaxed.owl Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua. biological_process owl:Class GO:0099171 biolink:NamedThing presynaptic modulation of chemical synaptic transmission Any process, acting in the presynapse that results in modulation of chemical synaptic transmission. tmpxe7fu0cj_hp_relaxed.owl dos 2017-09-11T17:09:31Z biological_process owl:Class HP:0009669 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the thumb Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of thumb innermost long bone UMLS:C4024248 doelkens 2009-01-30T09:17:13Z human_phenotype owl:Class GO:1902116 biolink:NamedThing negative regulation of organelle assembly Any process that stops, prevents or reduces the frequency, rate or extent of organelle assembly. tmpxe7fu0cj_hp_relaxed.owl down regulation of organelle assembly|inhibition of organelle assembly|downregulation of organelle assembly|down-regulation of organelle assembly pr 2013-05-14T09:43:31Z biological_process owl:Class GO:1902115 biolink:NamedThing regulation of organelle assembly Any process that modulates the frequency, rate or extent of organelle assembly. tmpxe7fu0cj_hp_relaxed.owl pr 2013-05-14T09:43:21Z biological_process owl:Class UBERON:0006291 biolink:NamedThing scapula pre-cartilage condensation A scapula endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18027|EHDAA:6041|EHDAA2:0001778|VHOG:0000960 uberon owl:Class the scapula has been shown to develop from multiple tissues, such as the dermomyotome of the somites, the mesodermal portion of the soma- topleure (a domain of the lateral plate mesoderm or LPM) and neural crest cell-derived mesenchyme (Huang et al., 2000; Matsuoka et al., 2005; Wang et al., 2005). UBERON:0015057 biolink:NamedThing scapula endochondral element A scapula bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl scapula element|scapula skeletal element uberon owl:Class UBERON:0010333 biolink:NamedThing extraembryonic membrane mesenchyme Mesenchyme that is part of a extraembryonic membrane. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0002428 biolink:NamedThing limb bone A bone that is part of a limb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bone of limb|bone of extremity|free limb bone NCIT:C32223|MAT:0000151|UMLS:C0582791|MIAA:0000151|EFO:0000945 the formal definition is very inclusive, and includes sesamoids uberon owl:Class NCITA includes clavicle. MA:'limb bone' is actually a bone of limb or girdle HP:0032815 biolink:NamedThing Neonatal electro-clinical myoclonic seizure Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). tmpxe7fu0cj_hp_relaxed.owl Neonatal electroclinical myoclonic seizure Clinically difficult to differentiate from non-epileptic myoclonus. peter owl:Class HP:0032813 biolink:NamedThing Neonatal electro-clinical motor seizure Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features. tmpxe7fu0cj_hp_relaxed.owl Neonatal motor seizures may be further sub-classified as seizures occurring with presentations such as: automatisms, clonic, epileptic spams, myoclonic, sequential, tonic. peter owl:Class HP:0012470 biolink:NamedThing Setting-sun eye phenomenon An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid. tmpxe7fu0cj_hp_relaxed.owl Eyes fixed downward|Sunsetting eye|Setting-sun eye phenomenon|Sun setting eyes SNOMEDCT_US:63342001|UMLS:C0423128|UMLS:C4020721 Setting-sun eye phenomenon can also be transiently elicited in healthy infants up to 7 months of age by changes of position or removal of light (benign setting-sun phenomenon). When persistent, this sign is one of the most frequent markers of elevated intracranial pressure. peter 2013-11-26T05:40:01Z human_phenotype owl:Class HP:0004788 biolink:NamedThing Intestinal lymphedema Fluid retention and edema in the intestine caused by a compromised lymphatic system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025292 human_phenotype owl:Class HP:0001004 biolink:NamedThing Lymphedema Localized fluid retention and tissue swelling caused by a compromised lymphatic system. tmpxe7fu0cj_hp_relaxed.owl Lymphoedema|Swelling caused by excess lymph fluid under skin|Lymphatic obstruction|Onset of lymphedema around puberty UMLS:C0240278|UMLS:C1835229|SNOMEDCT_US:234097001|SNOMEDCT_US:30213001|UMLS:C0024236|MSH:D008209 HP:0003605 human_phenotype owl:Class PR:000050025 biolink:NamedThing angiotensinogenase A protein that is a translation product of the mouse Ren1 or Ren2 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl fam:angiotensinogenase Category=family. protein owl:Class UBERON:0019246 biolink:NamedThing palmar skin crease tmpxe7fu0cj_hp_relaxed.owl skin crease of palmar part of manus uberon owl:Class UBERON:3000981 biolink:NamedThing limb external integument structure Dermal, epidermal, glandular and pigment structures of the limb integument. tmpxe7fu0cj_hp_relaxed.owl amphibian_anatomy_curators uberon owl:Class This class was sourced from an external ontology (amphibian_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon CHEBI:33246 biolink:NamedThing inorganic group Any substituent group which does not contain carbon. tmpxe7fu0cj_hp_relaxed.owl inorganic groups chebi_ontology owl:Class CHEBI:24433 biolink:NamedThing group A defined linked collection of atoms or a single atom within a molecular entity. tmpxe7fu0cj_hp_relaxed.owl Gruppe|Rest|group|groupe|grupos|grupo chebi_ontology owl:Class HP:0003272 biolink:NamedThing Abnormal hip bone morphology An abnormality of the hip bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the hip bone|Abnormality of the hips UMLS:C4021735 The hip region comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle. owl:Class HP:0012168 biolink:NamedThing Head-banging Habitual striking of one's own head against a surface such as a mattress or wall of a crib. tmpxe7fu0cj_hp_relaxed.owl Head-banging UMLS:C0018672|MSH:D019956|SNOMEDCT_US:43954004 peter 2013-02-20T09:33:57Z human_phenotype owl:Class HP:0100716 biolink:NamedThing Self-injurious behavior Aggression towards oneself. tmpxe7fu0cj_hp_relaxed.owl Self injury|Self-injurious behaviour|Self-injurious behaviours|Autoagression|Self-injurious behavior|Self-injurious behaviors|Self-harm SNOMEDCT_US:248062006|UMLS:C0085271|MSH:D016728 doelkens 2011-05-16T06:47:54Z human_phenotype owl:Class UBERON:0003821 biolink:NamedThing metapodium bone A bone of the metapodial skeleton. tmpxe7fu0cj_hp_relaxed.owl metapodial bone|metapodium bone|metacarpal/metatarsal bone|metacarpal/metatarsal|metapodi bone|metacarpal or metatarsal bone EMAPA:37284|MA:0000301 uberon owl:Class UBERON:0012357 biolink:NamedThing digitopodium bone A bone that is part of a the digitopodium skeleton - i.e. the acropodial skeleton or the metapodial skeleton. tmpxe7fu0cj_hp_relaxed.owl digit bone uberon owl:Class UBERON:0004317 biolink:NamedThing distal phalanx of pedal digit 3 A distal phalanx that is part of a foot digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl distal phalanx of third digit of foot|equine 3rd phalanx of hindlimb digit 3|hindlimb medial claw of ruminant hoof|foot digit 3 distal phalanx|hindlimb medial claw of artiodactyl|hindlimb medial ungual phalanx of artiodactyl|hindlimb coffin bone|distal phalanx of pedal digit III|equine hindlimb distal phalanx|distal phalanx of foot digit 3|hindlimb pedal bone|distal phalanx of 3rd toe|third distal phalanx of foot|3rd toe distal phalanx|distal phalanx of third toe|distal phalanx of the 3rd toe FMA:32629 uberon owl:Class UBERON:0003867 biolink:NamedThing distal phalanx of pes A distal phalanx that is part of a pedal digit [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl distal phalanx of foot|phalanx distalis pedis|foot distal phalanx|distal phalanx of toe|ungual phalanx of foot|ungual phalanx of hindlimb|terminal phalanx of foot|distal pedal phalanx|terminal phalanx of hindlimb MA:0001380|FMA:75830|EMAPA:37310|UMLS:C0224026|NCIT:C52783 This is typically proximally connected to the middle phalanx of pes, except in some cases such as the pedal digit 1 (big toe) in many mammals such as humans, where it connects to the proximal phalanx. It always connects to some phalanx, by definition uberon owl:Class HP:0040331 biolink:NamedThing Focal hypointensity of cerebral white matter on MRI tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-5316-1399 owl:Class HP:0007103 biolink:NamedThing Hypointensity of cerebral white matter on MRI A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. tmpxe7fu0cj_hp_relaxed.owl White matter hypointensities on MRI UMLS:C4020908 ORCID:0000-0002-5316-1399 HP:0006804 human_phenotype owl:Class UBERON:0003548 biolink:NamedThing forebrain meninges A meninx that is part of a forebrain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl forebrain meninx|meninx of forebrain|meninges of forebrain EMAPA:17774|EMAPA:17764|EMAPA:37543|MA:0000883 uberon owl:Class UBERON:0007709 biolink:NamedThing superior cerebellar peduncle of pons tmpxe7fu0cj_hp_relaxed.owl SCPP|superior cerebellar peduncle of the pons|superior cerebellar peduncle of pons|pedunculus cerebellaris superior (pontis) BIRNLEX:1726|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=833|BAMS:scpp|FMA:72495 uberon owl:Class FMA:72495 most likely denotes this class rather than the more generic parent, due to the part of relationship to pontine tegmentum. UBERON:0003295 biolink:NamedThing pharyngeal gland Racemose mucous glands beneath the mucous membrane of the pharynx. tmpxe7fu0cj_hp_relaxed.owl glandulae pharyngeae|pharynx gland EHDAA2:0001461|EHDAA:2967|BTO:0004849|FMA:55075 uberon owl:Class HP:0045057 biolink:NamedThing Decreased levels of alpha-fetoprotein A decrease in the concentration of alpha-fetoprotein in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073295 owl:Class HP:0045056 biolink:NamedThing Abnormal levels of alpha-fetoprotein tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073179 owl:Class UBERON:0022299 biolink:NamedThing upper eyelid nerve A nerve that innervates an upper eyelid. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class PR:000002978 biolink:NamedThing lymphocyte antigen 6G An Ly-6-like protein that is a translation product of the mouse Ly6g gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl Ly-6G|Ly-6G.1|Ly6g Category=gene. Requested by=CL. protein owl:Class GO:0062013 biolink:NamedThing positive regulation of small molecule metabolic process Any process that activates or increases the frequency, rate or extent of a small molecule metabolic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of small molecule metabolism dph 2018-03-19T14:25:10Z biological_process owl:Class HP:0009844 biolink:NamedThing Broad middle phalanx of finger Increased width of the middle phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Broad middle phalanges of finger|Broad middle phalanges of the hand|Broad middle finger bones UMLS:C4021383 doelkens 2009-03-11T12:15:55Z human_phenotype owl:Class HP:0032851 biolink:NamedThing Focal aware sensory seizure with visual features A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis. tmpxe7fu0cj_hp_relaxed.owl More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe. peter owl:Class HP:0032754 biolink:NamedThing Focal aware sensory seizure A focal sensory seizure during which awareness is retained throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0040016 biolink:NamedThing embryonic cleavage The first few specialized divisions of an activated animal egg. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0031378 biolink:NamedThing Abnormal lymphocyte proliferation Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 15:55:37+00:00 peter owl:Class HP:0031377 biolink:NamedThing Abnormal cell proliferation Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 15:54:47+00:00 peter owl:Class HP:0034024 biolink:NamedThing Anti-HLA-B IgG3 antibody positivity The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B). tmpxe7fu0cj_hp_relaxed.owl 2021-09-04 15:27:55+00:00 peter owl:Class HP:0034022 biolink:NamedThing Anti-HLA-B antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B). tmpxe7fu0cj_hp_relaxed.owl 2021-09-04 15:26:03+00:00 peter owl:Class HP:0003529 biolink:NamedThing Parathormone-independent increased renal tubular calcium reabsorption An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels. tmpxe7fu0cj_hp_relaxed.owl Parathormone-independent increased renal tubular Ca2+ reabsorption|Parathormone-independent increased renal tubular Ca reabsorption UMLS:C4025604 This feature is seen with familial hypocalciuric hypercalcemia. This disease has three known genetic etiologies, in type 1 there is a loss of function mutation in the calcium-sensing receptor (encoded by CASR), in type 2 there is a gain of function mutation in GNA11, which is involved in calcium-sensing receptor signaling, and in type 3 there is a mutation in AP2S1, which encodes the adaptor-related protein complex 2, sigma 1 subunit, which alters calcium-sensing receptor endocytosis. human_phenotype owl:Class UBERON:0004820 biolink:NamedThing bile duct epithelium Any epithelium that lines one of the bile ducts. tmpxe7fu0cj_hp_relaxed.owl biliary duct epithelium|epithelium of biliary duct|epithelium of bile duct BTO:0000417|MA:0001629|NCIT:C43616|UMLS:C1711208 uberon owl:Class The irregularly shaped proliferating bile ducts are lined by normal cuboidal epithelium. CHEBI:23341 biolink:NamedThing cobamides tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:23390 biolink:NamedThing cobalt-corrinoid hexaamide tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:64571 biolink:NamedThing NMDA receptor agonist An excitatory amino acid agonist which binds to NMDA receptors and triggers a response. tmpxe7fu0cj_hp_relaxed.owl N-methyl-D-aspartate receptor agonist|NMDA receptor agonists|N-methyl-D-aspartate receptor agonists|NMDAR agonist|NMDAR agonists chebi_ontology owl:Class CHEBI:50103 biolink:NamedThing excitatory amino acid agonist An agent that binds to and activates excitatory amino acid receptors. tmpxe7fu0cj_hp_relaxed.owl excitatory amino acid agonists|excitatory amino acid receptor agonists|excitatory amino acid receptor agonist chebi_ontology owl:Class HP:0030708 biolink:NamedThing Myeloschisis The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:360530005|UMLS:C0266507 Myeloschisis is a cleft spinal cord arising from a failure of neural tube closure. The placode is defined as a plate of embryonic epithelial cells constituting a primordial cell group from which the spinal cord arises and is often seen in a myelomeningocele. In a myelomeningocele, an exposed placode is often a myeloschisis. In other words, a myeloschisis is a collapsed myelomeningocele. When the placode in the myelomeningocele sac is a cleft spinal cord, this anomaly is classified as myeloschisis rather than myelomeningocele. owl:Class HP:0010301 biolink:NamedThing Spinal dysraphism A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. tmpxe7fu0cj_hp_relaxed.owl Incomplete closure of the vertebral arch UMLS:C0027794|MSH:D009436|SNOMEDCT_US:253098009 Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism includ spina bifida occulta. peter 2009-07-12T12:58:04Z owl:Class HP:0010287 biolink:NamedThing Abnormality of the submandibular glands Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the submaxillary glands UMLS:C4023920 peter 2009-07-12T10:41:17Z human_phenotype owl:Class HP:0030216 biolink:NamedThing Inertia Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022575 owl:Class HP:0000745 biolink:NamedThing Diminished motivation A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. tmpxe7fu0cj_hp_relaxed.owl Lacks initiative|Lack of motivation|Lacking in initiative|Diminished motivation|Lack of initiative UMLS:C0456814|SNOMEDCT_US:277521002 human_phenotype owl:Class HP:0030165 biolink:NamedThing Temporal artery tortuosity The presence of an increased number of twists and turns of the temporal artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022602 owl:Class UBERON:0012283 biolink:NamedThing femoral fat pad Encapsulated adipose tissue associated with the femur. tmpxe7fu0cj_hp_relaxed.owl femoral fat depot uberon owl:Class HP:0011787 biolink:NamedThing Central hypothyroidism A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:26692000|UMLS:C0271801 peter 2012-04-22T06:25:45Z human_phenotype owl:Class HP:0000821 biolink:NamedThing Hypothyroidism Deficiency of thyroid hormone. tmpxe7fu0cj_hp_relaxed.owl Low T4|Underactive thyroid UMLS:C0020676|MSH:D007037|SNOMEDCT_US:40930008 HP:0008203|HP:0003222 human_phenotype owl:Class HP:0009666 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the thumb A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of thumb innermost long bone UMLS:C4024251 doelkens 2009-01-30T09:17:13Z owl:Class HP:0009688 biolink:NamedThing Cone-shaped epiphysis of the thumb A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped thumb epiphyses|Cone-shaped end part of thumb long bone|Cone-shaped epiphyses of the thumb UMLS:C4021407 doelkens 2009-01-30T09:20:16Z HP:0004075 human_phenotype owl:Class GO:0061105 biolink:NamedThing regulation of stomach neuroendocrine cell differentiation Any process that modulates the rate, frequency or extent of the differentiation of a neuroendocrine cell in the stomach. tmpxe7fu0cj_hp_relaxed.owl dph 2010-04-29T12:19:37Z biological_process owl:Class UBERON:0008397 biolink:NamedThing tracheobronchial epithelium Epithelium pertaining to the trachea and bronchi. tmpxe7fu0cj_hp_relaxed.owl bronchotracheal epithelium BTO:0002925|CALOHA:TS-1063 uberon owl:Class HP:0010813 biolink:NamedThing Abnormal number of hair whorls More than two clockwise hair whorls. tmpxe7fu0cj_hp_relaxed.owl Extra hair whorl|Supernumary hair swirls|Double crown (hair whorls)|Abnormal number of hair whorls|Abnormal number of hair swirls|Supernumary hair whorl|Extra hair swirls UMLS:C4023695 Most individuals have one clockwise hair whorl at a single point on the scalp lateral to the midline but close to the vertex of the skull. Five percent of the population has two whorls. A double hair whorl is sometimes referred to as a double crown. In 10%, whorl direction is counter-clockwise. peter 2010-07-05T11:12:26Z human_phenotype owl:Class HP:0010721 biolink:NamedThing Abnormal hair whorl An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair). tmpxe7fu0cj_hp_relaxed.owl Abnormal hair whorl|Abnormal whorl of hair|Abnormal hair whorls UMLS:C3280303 sdoelken 2010-04-20T10:05:04Z human_phenotype owl:Class HP:0009175 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 5th finger Patchy increase in bone density of the middle phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the middle bone of the little finger|Uneven increase in bone density in the middle bone of the pinkie finger|Uneven increase in bone density in the middle bone of the pinky finger UMLS:C4024555 peter 2008-12-29T03:10:34Z human_phenotype owl:Class HP:0009377 biolink:NamedThing Patchy sclerosis of 5th finger phalanx Uneven increase in bone density of one or more of the phalanges of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in pinky finger bone|Uneven increase in bone density in pinkie finger bone|Patchy sclerosis of the phalanges of the 5th finger|Uneven increase in bone density in little finger bone UMLS:C4021484 doelkens 2009-01-13T12:00:02Z human_phenotype owl:Class HP:0004599 biolink:NamedThing Absent or minimally ossified vertebral bodies tmpxe7fu0cj_hp_relaxed.owl UMLS:C1832983 human_phenotype owl:Class HP:0100569 biolink:NamedThing Abnormally ossified vertebrae An abnormality of the formation and mineralization of one or more vertebrae. tmpxe7fu0cj_hp_relaxed.owl Abnormal vertebral ossification|Abnormal bone maturation of vertebra|Abnormality of ossification/mineralisation of vertebrae UMLS:C4020966 doelkens 2010-12-21T04:50:43Z human_phenotype owl:Class HP:0002307 biolink:NamedThing Drooling Habitual flow of saliva out of the mouth. tmpxe7fu0cj_hp_relaxed.owl Dribbling|Drooling|Sialorrhea SNOMEDCT_US:275295002|SNOMEDCT_US:53827007|SNOMEDCT_US:62718007|MSH:D012798|UMLS:C0013132|UMLS:C0037036 owl:Class HP:0003781 biolink:NamedThing Excessive salivation Excessive production of saliva. tmpxe7fu0cj_hp_relaxed.owl Watery mouth|Ptyalism|Mouth watering|Hypersalivation|Excessive production of saliva|Excessive salivation|Oversalivation SNOMEDCT_US:53827007|SNOMEDCT_US:62718007|MSH:D012798|UMLS:C0037036|SNOMEDCT_US:275295002|UMLS:C0013132 human_phenotype owl:Class CHEBI:131565 biolink:NamedThing steroid aldehyde Any steroid substituted by a formyl group. tmpxe7fu0cj_hp_relaxed.owl steroid aldehydes chebi_ontology owl:Class CHEBI:17478 biolink:NamedThing aldehyde A compound RC(=O)H, in which a carbonyl group is bonded to one hydrogen atom and to one R group. tmpxe7fu0cj_hp_relaxed.owl Aldehyd|RC(=O)H|aldehido|aldehydes|aldehyde|an aldehyde|Aldehyde|RCHO|aldehydum|aldehidos 0 CHOR 29.01800 29.00274 [H]C([*])=O KEGG:C00071 CHEBI:22291|CHEBI:13805|CHEBI:13753|CHEBI:2554|CHEBI:13432|CHEBI:8750|CHEBI:13806 chebi_ontology owl:Class UBERON:0002417 biolink:NamedThing abdominal segment of trunk The abdominal segment of the torso. tmpxe7fu0cj_hp_relaxed.owl lower trunk|abdomen/pelvis/perineum|lumbar region|lower body EMAPA:35104|Wikipedia:Lumbar|FMA:259211|MA:0000021|SCTID:362875007 uberon owl:Class UBERON:0009569 biolink:NamedThing subdivision of trunk tmpxe7fu0cj_hp_relaxed.owl region of trunk|trunk subdivision SCTID:22943007|FMA:25054 uberon owl:Class HP:0010839 biolink:NamedThing Increased urinary copper concentration An increased concentration of copper in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urinary copper concentration UMLS:C4023688 peter 2010-07-10T07:44:50Z human_phenotype owl:Class HP:0045036 biolink:NamedThing Abnormal urinary copper concentration tmpxe7fu0cj_hp_relaxed.owl Abnormal urinary copper concentration UMLS:C4073165 HPO:skoehler owl:Class HP:0012738 biolink:NamedThing Agenesis of canine Agenesis of canine tooth. tmpxe7fu0cj_hp_relaxed.owl Absent canines|Missing eye tooth|Missing canine|Absence of eye tooth|Failure of development of eye tooth|Failure of development of canine|Absence of canine UMLS:C4021072|UMLS:C4280311 peter 2014-03-23T04:26:04Z human_phenotype owl:Class HP:0011078 biolink:NamedThing Abnormality of canine An abnormality of canine tooth. tmpxe7fu0cj_hp_relaxed.owl Abnormality of canine|Abnormality of eye tooth UMLS:C4023546 peter 2011-03-11T09:58:41Z human_phenotype owl:Class CHEBI:64767 biolink:NamedThing anionic group A group that carries an overall negative charge. tmpxe7fu0cj_hp_relaxed.owl anionic groups chebi_ontology owl:Class HP:0005374 biolink:NamedThing Cellular immunodeficiency An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855204 HP:0005375 human_phenotype owl:Class HP:0002721 biolink:NamedThing Immunodeficiency Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. tmpxe7fu0cj_hp_relaxed.owl Decreased immune function|Immune deficiency UMLS:C0021051|MSH:D007153|SNOMEDCT_US:234532001 HP:0005362|HP:0005371 human_phenotype owl:Class HP:0010535 biolink:NamedThing Sleep apnea An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. tmpxe7fu0cj_hp_relaxed.owl Sleep apnoea|Pauses in breathing while sleeping SNOMEDCT_US:73430006|MSH:D012891|UMLS:C0037315 peter 2009-09-21T08:53:35Z human_phenotype owl:Class HP:0002104 biolink:NamedThing Apnea Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. tmpxe7fu0cj_hp_relaxed.owl Apnoea|Absence of spontaneous respiration|Apneic episodes UMLS:C0003578|MSH:D001049|SNOMEDCT_US:248583008|SNOMEDCT_US:1023001 HP:0005936|HP:0005958 owl:Class HP:0032724 biolink:NamedThing Focal impaired awareness tonic seizure A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0014794 biolink:NamedThing pectoral appendage muscle Any muscle organ that is part of a pectoral appendage (forelimb or pectoral fin). tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class CL:0000182 biolink:NamedThing hepatocyte The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated. tmpxe7fu0cj_hp_relaxed.owl FMA:14515|BTO:0000575|CALOHA:TS-0454 Hepatocytes are reportedly MHC Class I-positive and MHC Class II-positive. cell owl:Class HP:0100761 biolink:NamedThing Visceral angiomatosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021977 doelkens 2011-06-07T10:33:09Z human_phenotype owl:Class HP:0007461 biolink:NamedThing Hemangiomatosis tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:47669001|UMLS:C1384590|SNOMEDCT_US:254785001 human_phenotype owl:Class HP:0010209 biolink:NamedThing Symphalangism affecting the proximal phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Fused innermost bones of toes UMLS:C4023970 doelkens 2009-05-29T01:54:18Z owl:Class HP:0010179 biolink:NamedThing Symphalangism affecting the phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Fused toe bones UMLS:C4023984 doelkens 2009-05-29T01:39:26Z human_phenotype owl:Class UBERON:0010243 biolink:NamedThing merocrine gland An exocrine gland whose secretions are excreted via exocytosis from secretory cells into an epithelial-walled duct or ducts and thence onto a bodily surface or into the lumen; the gland releases its product and no part of the gland is lost or damaged. tmpxe7fu0cj_hp_relaxed.owl BTO:0002324|Wikipedia:Merocrine|MA:0003041 uberon owl:Class merocrine GO:1901862 biolink:NamedThing negative regulation of muscle tissue development Any process that stops, prevents or reduces the frequency, rate or extent of muscle tissue development. tmpxe7fu0cj_hp_relaxed.owl down-regulation of muscle tissue development|down regulation of muscle tissue development|inhibition of muscle tissue development|downregulation of muscle tissue development yaf 2013-02-01T10:30:52Z biological_process owl:Class UBERON:0005338 biolink:NamedThing outflow tract aortic component An outflow tract that is part of a aorta. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001353|MA:0000101|VHOG:0001394|EMAPA:17329 merge with LVOT? uberon owl:Class UBERON:0001954 biolink:NamedThing Ammon's horn A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. tmpxe7fu0cj_hp_relaxed.owl hippocampus major|Ammons horn|Ammon horn fields|hippocampus|cornu ammonis|Ammon's horn|ammon horn|hippocampus proper|ammon gyrus|hippocampus proprius BM:Tel-CAM|EMAPA:32772|MA:0000191|FMA:62493|VHOG:0001177|DHBA:10296|MAT:0000114|EFO:0000530|OpenCyc:Mx4rv3piFJwpEbGdrcN5Y29ycA|BAMS:CA|EHDAA2:0004443|MESH:A08.186.211.577.405|NCIT:C32374|BIRNLEX:721|PBA:128012244|EV:0100180|BTO:0003705|MBA:375|MIAA:0000114|NCIT:C12444|DMBA:16124|GAID:623|EMAPA:32845|UMLS:C0019564|CALOHA:TS-0460 http://upload.wikimedia.org/wikipedia/commons/2/2e/Gray739-emphasizing-hippocampus.png UBERON:0003940|UBERON:0004165 uberon owl:Class hippocampal Non-mammalian species do not have a brain structure that looks like the mammalian hippocampus, but they have one that is considered homologous to it. The hippocampus, as pointed out above, is essentially the medial edge of the cortex. Only mammals have a fully developed cortex, but the structure it evolved from, called the pallium, is present in all vertebrates, even the most primitive ones such as the lamprey or hagfish. The pallium is usually divided into three zones: medial, lateral, and dorsal. The medial pallium forms the precursor of the hippocampus. It does not resemble the hippocampus visually, because the layers are not warped into an S shape or enwrapped by the dentate gyrus, but the homology is indicated by strong chemical and functional affinities. There is now evidence that these hippocampal-like structures are involved in spatial cognition in birds, reptiles, and fish. In birds, the correspondence is sufficiently well established that most anatomists refer to the medial pallial zone as the 'avian hippocampus'. The story for fish is more complex. In teleost fish (which make up the great majority of existing species), the forebrain is distorted in comparison to other types of vertebrates: most neuroanatomists believe that the teleost forebrain is essentially everted, like a sock turned inside-out, so that structures that lie in the interior, next to the ventricles, for most vertebrates, are found on the outside in teleost fish, and vice versa. One of the consequences of this is that the medial pallium ('hippocampal' zone) of a typical vertebrate is thought to correspond to the lateral pallium of a typical fish. Several types of fish (particularly goldfish) have been shown experimentally to have strong spatial memory abilities, even forming 'cognitive maps' of the areas they inhabit.[WP] HP:0010993 biolink:NamedThing Abnormality of the cerebral subcortex An abnormality of the cerebral subcortex. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the cerebral medulla UMLS:C4021207 The cerebral subcortex contains the basal ganglia and the cerebral white matter. peter 2011-02-09T10:32:54Z human_phenotype owl:Class GO:2000830 biolink:NamedThing positive regulation of parathyroid hormone secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0003279 biolink:NamedThing Coxa magna Widening of the femoral head and neck. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:296041000119103|MSH:D000070603|UMLS:C1860826 Coxa magna can occur as a result of developmental dysplasia of the hip, Perthes disease, septic arthritis, Kniest dysplasia, among others. owl:Class HP:0100133 biolink:NamedThing Abnormality of the pubic hair Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the pubic hair UMLS:C4022288 doelkens 2010-06-24T10:15:30Z owl:Class HP:0009888 biolink:NamedThing Abnormality of secondary sexual hair Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair. tmpxe7fu0cj_hp_relaxed.owl Abnormality of secondary sexual hair UMLS:C4024171 peter 2009-04-30T06:18:33Z owl:Class HP:0006559 biolink:NamedThing Hepatic calcification The presence of abnormal calcium deposition in the liver. tmpxe7fu0cj_hp_relaxed.owl Liver calcifications UMLS:C1696466 human_phenotype owl:Class UBERON:0034923 biolink:NamedThing disconnected anatomical group Material anatomical entity consisting of multiple anatomical structures that are not connected to each other. tmpxe7fu0cj_hp_relaxed.owl CARO:0020000 uberon owl:Class UBERON:0000465 biolink:NamedThing material anatomical entity Anatomical entity that has mass. tmpxe7fu0cj_hp_relaxed.owl HAO:0000006|AEO:0000006|VHOG:0001721|CARO:0000006|AAO:0010264|FMA:67165|FBbt:00007016|EHDAA2:0003006|BILA:0000006|TAO:0001836|TGMA:0001826 uberon owl:Class HP:0100396 biolink:NamedThing Short proximal phalanx of the 4th toe Developmental hypoplasia of the proximal phalanx of fourth toe. tmpxe7fu0cj_hp_relaxed.owl Short fourth toe proximal phalanx|Hypoplastic/small proximal phalanx of the 4th toe|Short proximal phalanx of the fourth toe UMLS:C4021001 HP:0005628 human_phenotype owl:Class HP:0100376 biolink:NamedThing Aplasia/hypoplasia of the proximal phalanx of the 4th toe Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe. tmpxe7fu0cj_hp_relaxed.owl Absent/small innermost 4th toe bone|Absent/underdeveloped innermost 4th toe bone UMLS:C4022115 owl:Class HP:0001199 biolink:NamedThing Triphalangeal thumb A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. tmpxe7fu0cj_hp_relaxed.owl Triphalangeal thumbs|Finger-like thumb|Digitalized thumb|Accessory phalanx of the thumb|Triphalangy of thumb SNOMEDCT_US:205308004|MSH:C573898|UMLS:C0241397 The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly. Note that this finding can be readily assessed by examination and/or physical manipulation of the thumb. HP:0009610|HP:0005846|HP:0009619|HP:0006194 human_phenotype owl:Class GO:0106122 biolink:NamedThing negative regulation of cobalamin metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of a cobalamin metabolic process. tmpxe7fu0cj_hp_relaxed.owl hjd 2018-05-01T18:12:48Z biological_process owl:Class GO:0030318 biolink:NamedThing melanocyte differentiation The process in which a relatively unspecialized cell acquires specialized features of a melanocyte. tmpxe7fu0cj_hp_relaxed.owl melanocyte cell differentiation|melanophore differentiation biological_process owl:Class GO:0050931 biolink:NamedThing pigment cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a pigmented cell, such as a melanocyte. tmpxe7fu0cj_hp_relaxed.owl pigmented cell differentiation|chromatophore differentiation Note that the chromatophore mentioned here is distinct from the pigment bearing structure found in certain photosynthetic bacteria and cyanobacteria. It is also different from the plant chromoplast, which is also sometimes called a chromatophore. GO:0043357|GO:0043358 biological_process owl:Class HP:0100488 biolink:NamedThing Synostosis of the proximal phalanx of the hallux with the 1st metatarsal tmpxe7fu0cj_hp_relaxed.owl Fusion of the innermost big toe bone with the 1st long bone of foot UMLS:C4022043 doelkens 2010-11-18T06:24:21Z human_phenotype owl:Class UBERON:0001082 biolink:NamedThing epicardium of ventricle An epicardial layer that lines a cardiac ventricle. tmpxe7fu0cj_hp_relaxed.owl ventricular epicardium|cardiac ventricle epicardium ZFA:0005058|TAO:0005058|FMA:12150 uberon owl:Class The external layer of the ventricle bounding the ventricular myocardium. It is formed by a single layer of mesothelial cells supported by a basal lamina, and imbricated with collagen, fibroblasts, and vascular structures in the subepicardial space. Hu et al. 2001.[TAO] UBERON:0002348 biolink:NamedThing epicardium A region of the serous membrane that forms the innermost layer of the pericardium and the outer surface of the heart. tmpxe7fu0cj_hp_relaxed.owl visceral serous pericardium proper|pericardium visceral mesothelium|visceral serous pericardium of heart|heart epicardium FMA:9461|NCIT:C13164|EHDAA2:0002202|TAO:0005057|VHOG:0000119|XAO:0000316|Wikipedia:Epicardium|ZFA:0005057|galen:Epicardium|UMLS:C0225968|AAO:0010409 TODO - check links with UBERON:0002425 visceral serous pericardium. develops from proepicardium. WP:Epicardium -- When considered as a part of the pericardium, it is the inner layer, or visceral pericardium, continuous with the serous layer. uberon owl:Class The inner layer of the pericardium that is in contact with the surface of the heart.[AAO]|External layer of the heart.[TAO] The visceral pericardium apparently produces the pericardial fluid, which lubricates motion between the inner and outer layers of the pericardium. During ventricular contraction, the wave of depolarization moves from endocardial to epicardial surface. [Wikipedia:Epicardium] UBERON:0001913 biolink:NamedThing milk An emulsion of fat globules within a fluid that is secreted by the mammary gland during lactation. tmpxe7fu0cj_hp_relaxed.owl mammary gland milk MESH:A13.622|GAID:1230|CALOHA:TS-0636|BTO:0000868|OpenCyc:Mx4rvVjGZJwpEbGdrcN5Y29ycA|EV:0100126|VHOG:0001263|FMA:62100|NCIT:C13401|UMLS:C1511310|galen:Milk|MIAA:0000056|MAT:0000056|MA:0002552|ENVO:02000031|EMAPA:36540 to axiomatize the different forms of mammary gland secretion an ontology of the phases of pregnancy/lactation is required. Using the existing GO def of lactation is circular. uberon owl:Class The detailed similarities of mammary glands in living monotremes, marsupials, and eutherians argue for a monophyletic origin of these glands, perhaps by the combination of parts of preexisting sebaceous and sweat glands.[well established][VHOG] ncit:Milk refers specifically to cow milk CHEBI:35381 biolink:NamedThing monosaccharide Parent monosaccharides are polyhydroxy aldehydes H[CH(OH)]nC(=O)H or polyhydroxy ketones H-[CHOH]n-C(=O)[CHOH]m-H with three or more carbon atoms. The generic term 'monosaccharide' (as opposed to oligosaccharide or polysaccharide) denotes a single unit, without glycosidic connection to other such units. It includes aldoses, dialdoses, aldoketoses, ketoses and diketoses, as well as deoxy sugars, provided that the parent compound has a (potential) carbonyl group. tmpxe7fu0cj_hp_relaxed.owl Monosacharid|monosacaridos|Monosaccharide|Monosaccharid|monosacarido|monosaccharides KEGG:C06698 CHEBI:6984|CHEBI:25407 chebi_ontology owl:Class CHEBI:16646 biolink:NamedThing carbohydrate Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates. tmpxe7fu0cj_hp_relaxed.owl hydrates de carbone|saccharides|a carbohydrate|carbohydrate|carbohidratos|glucide|saccharidum|carbohidrato|carbohydrates|glucidos|glucido|Kohlenhydrat|Kohlenhydrate|saccharide|glucides Wikipedia:Carbohydrate CHEBI:9318|CHEBI:15131|CHEBI:23008 chebi_ontology owl:Class HP:0003862 biolink:NamedThing Absent humerus Missing humerus bone associated with congenital failure of development. tmpxe7fu0cj_hp_relaxed.owl Aplasia of the humerus|Absent long bone in upper arm|Aplastic humerus UMLS:C2678399 human_phenotype owl:Class HP:0006507 biolink:NamedThing Aplasia/hypoplasia of the humerus Absence (due to failure to form) or underdevelopment of the humerus. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped long bone in upper arm|Absent/small long bone in upper arm UMLS:C4025031 peter 2008-03-29T09:15:00Z human_phenotype owl:Class HP:0008729 biolink:NamedThing Absence of labia majora tmpxe7fu0cj_hp_relaxed.owl Absent vaginal lips UMLS:C1849575 human_phenotype owl:Class HP:0012881 biolink:NamedThing Abnormal labia majora morphology An anomaly of the outer labia. tmpxe7fu0cj_hp_relaxed.owl Abnormality of vaginal lips|Abnormality of the labia majora UMLS:C4022695 hecht 2014-06-11T07:46:41Z owl:Class GO:0060455 biolink:NamedThing negative regulation of gastric acid secretion Any process that decreases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0033817 biolink:NamedThing Miliary Characterized by numerous small lesions said to resemble millet seed. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:13:42+00:00 peter owl:Class HP:0032551 biolink:NamedThing Hemorrhoids Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain. tmpxe7fu0cj_hp_relaxed.owl Haemorrhoids|Piles 2019-06-14 10:37:17+00:00 Hemorrrhoids result from dilation of the submucosal vascular tissue in the distal anal canal. This vascular tissue is supported by connective tissue that, when weakened, leads to descent or prolapse of the hemorrhoids. Internal hemorrhoids originate above the dentate line (i.e., the junction between columnar and squamous epithelium) and are viscerally innervated and, therefore, painless. External hemorrhoids originate below the dentate line, have somatic innervation, and can cause pain. Some patients have both internal and external (mixed) hemorrhoids. peter owl:Class HP:0025698 biolink:NamedThing Mucin casts A type of airway casts that consist of impacted mucus. tmpxe7fu0cj_hp_relaxed.owl Acellular airway casts|Type II airway casts peterrobinson owl:Class HP:0025696 biolink:NamedThing Airway casts A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts. tmpxe7fu0cj_hp_relaxed.owl Casts are frequently (4-16%) observed in patients with congenital heart disease who have undergone Fontan palliation. Casts are infrequently observed in sickle cell disease-and acute chest syndrome, airway infections, in particular H1N1 influenza, severe asthma, or after smoke/chemical inhalation injuries. peterrobinson owl:Class GO:0051781 biolink:NamedThing positive regulation of cell division Any process that activates or increases the frequency, rate or extent of cell division. tmpxe7fu0cj_hp_relaxed.owl activation of cell division|up regulation of cell division|stimulation of cell division|upregulation of cell division|up-regulation of cell division biological_process owl:Class UBERON:0003522 biolink:NamedThing manual digit blood vessel A blood vessel that is part of a finger [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hand digit blood vessel|digit of terminal segment of free upper limb blood vessel|terminal segment of free upper limb digit blood vessel|blood vessel of terminal segment of free upper limb digit|blood vessel of digit of terminal segment of free upper limb|finger blood vessel EMAPA:37297|MA:0000621 uberon owl:Class GO:0022008 biolink:NamedThing neurogenesis Generation of cells within the nervous system. tmpxe7fu0cj_hp_relaxed.owl neural cell differentiation|nervous system cell generation Wikipedia:Neurogenesis biological_process owl:Class UBERON:0000016 biolink:NamedThing endocrine pancreas The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin. tmpxe7fu0cj_hp_relaxed.owl endocrine pancreas|pars endocrina pancreatis|islets of Langerhans part of pancreas|endocrine part of pancreas EMAPA:35305|BTO:0000650|TAO:0001260|CALOHA:TS-1302|EFO:0002542|VHOG:0000049|NCIT:C32509|FMA:16018|MA:0001582|EV:0100129|ZFA:0001260 create a separate class for distributed pancreas, eg cyclostomes? uberon owl:Class The zebrafish endocrine pancreas is composed of small groups of islet cells that are distributed throughout the exocrine pancreas. The islet cells produce insulin, glucagon and somatostatin.[TAO]|The part of the pancreas that acts as an endocrine gland, consisting of the islets of Langerhans, which secrete insulin and other hormones. [TFD][VHOG] In the hagfish and lampreys (our most primitive vertebrate species of today), the first sign of 'a new organ' is found as collections of endocrine cells around the area of the bile duct connection with the duodenum. These endocrine organs are composed of 99% beta cells and 1% somatostatin-producing delta cells. Compared to the more primitive protochordates (e.g. amphioxus), this represents a stage where all previously scattered insulin-producing cells of the intestinal tissue have now quantitatively migrated to found a new organ involved in sensing blood glucose rather than gut glucose. Only later in evolution, the beta cells are joined by exocrine tissue and alpha cells (exemplified by the rat-, rabbit- and elephant-fishes). Finally, from sharks and onwards in evolution, we have the islet PP-cell entering to complete the pancreas.[well established][VHOG] endocrine and exocrine pancreas are not co-associated in hagfishes or lampreys UBERON:0000471 biolink:NamedThing compound organ component Multi-tissue structure that is part of a compound organ. tmpxe7fu0cj_hp_relaxed.owl compound organ components BILA:0000019|TAO:0001489|XAO:0003039|AAO:0010017|HAO:0000019|AEO:0000019|TGMA:0001835|ZFA:0001489|CARO:0000019|EHDAA2:0003019 this class was introduced for consistency with CARO, however, it has yet to be used in this or other ontologies. It may be retired in the future uberon owl:Class HP:0032908 biolink:NamedThing Focal aware undressing automatism seizure A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032907 biolink:NamedThing Focal undressing automatism seizure A type of focal automatism seizure characterized by involuntary undressing at onset. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0004621 biolink:NamedThing lumbar vertebra 5 The fifth lumbar vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl L5 vertebra|fifth lumbar vertebra UMLS:C0223552|NCIT:C32903|EMAPA:19573|FMA:13076|MA:0001432 elements are to be defined spatially/topologically uberon owl:Class HP:0003003 biolink:NamedThing Colon cancer tmpxe7fu0cj_hp_relaxed.owl Colon cancer MSH:D003110|SNOMEDCT_US:363406005|UMLS:C0007102 HP:0006718 human_phenotype owl:Class HP:0100273 biolink:NamedThing Neoplasm of the colon tmpxe7fu0cj_hp_relaxed.owl Colon tumour|Colon tumor SNOMEDCT_US:126838000|NCIT:C3262|MSH:D003110|UMLS:C0009375 doelkens 2010-07-28T05:37:31Z human_phenotype owl:Class HP:0006101 biolink:NamedThing Finger syndactyly Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". tmpxe7fu0cj_hp_relaxed.owl Partial syndactyly SNOMEDCT_US:268251006|UMLS:C0221352|SNOMEDCT_US:34048007|SNOMEDCT_US:249769001 HP:0006057 human_phenotype owl:Class HP:0010445 biolink:NamedThing Primum atrial septal defect An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum. tmpxe7fu0cj_hp_relaxed.owl Ostium primum atrial septal defect|Atrial septal defect, primum type|Primum atrioventricular canal defect|Septum primum defect MSH:C536112|Fyler:1110|UMLS:C0741296|UMLS:C0344735|MSH:C548006|SNOMEDCT_US:253373002 peter 2009-09-14T09:59:38Z human_phenotype owl:Class HP:0001631 biolink:NamedThing Atrial septal defect Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. tmpxe7fu0cj_hp_relaxed.owl Atrial septum defect|ASD|An opening in the wall separating the top two chambers of the heart|Hole in heart wall separating two upper heart chambers|Defect in the atrial septum|Atrioseptal defect|Atria septal defect UMLS:C0018817|SNOMEDCT_US:405752007|SNOMEDCT_US:253366007|ICD-10:Q21.1|SNOMEDCT_US:70142008|MSH:D006344|Fyler:2050 HP:0001630 owl:Class CHEBI:60525 biolink:NamedThing molybdenum cofactor(2-) Molybdenum cofactor MoCo protonated to pH 7.3. tmpxe7fu0cj_hp_relaxed.owl MoCo -2 C10H11MoN5O8PS3 552.33000 553.85615 C1(NC(=NC2=C1N[C@]3(C4=C([C@H](O[C@]3(N2)[H])COP([O-])([O-])=O)S[Mo](S4)(=O)(O)S*)[H])N)=O PDB:3HBQ|PDBeChem:MSS|PDB:3HBG|PMID:20356030|PDB:3HBP chebi_ontology owl:Class CHEBI:64775 biolink:NamedThing organic anionic group An anionic group that contains carbon. tmpxe7fu0cj_hp_relaxed.owl organic anionic groups chebi_ontology owl:Class HP:0000395 biolink:NamedThing Prominent antihelix The presence of an abnormally prominent antihelix. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1845272 human_phenotype owl:Class HP:0010360 biolink:NamedThing Broad phalanges of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Wide bones of 3rd toe UMLS:C4023881 doelkens 2009-07-16T11:51:17Z human_phenotype owl:Class HP:0010330 biolink:NamedThing Abnormality of the phalanges of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the bones of the 3rd toe UMLS:C4023899 doelkens 2009-07-16T11:40:52Z human_phenotype owl:Class UBERON:0016528 biolink:NamedThing white matter of frontal lobe A white matter of cerebral lobe that is part of a frontal lobe. tmpxe7fu0cj_hp_relaxed.owl frontal lobe white matter FMA:256178 uberon owl:Class UBERON:0016527 biolink:NamedThing white matter of cerebral lobe tmpxe7fu0cj_hp_relaxed.owl FMA:256176 uberon owl:Class GO:0050766 biolink:NamedThing positive regulation of phagocytosis Any process that activates or increases the frequency, rate or extent of phagocytosis. tmpxe7fu0cj_hp_relaxed.owl upregulation of phagocytosis|stimulation of phagocytosis|up regulation of phagocytosis|activation of phagocytosis|up-regulation of phagocytosis biological_process owl:Class CHEBI:32877 biolink:NamedThing primary amine A compound formally derived from ammonia by replacing one hydrogen atom by a hydrocarbyl group. tmpxe7fu0cj_hp_relaxed.owl Primary amine|primary amines|R-NH2|primaeres Amin|RCH2NH2|Primary monoamine 0 H2NR 16.02260 16.01872 N[*] KEGG:C00893|KEGG:C00375|KEGG:C02580 CHEBI:26265|CHEBI:8409|CHEBI:8407|CHEBI:26263 chebi_ontology owl:Class HP:0000464 biolink:NamedThing Abnormality of the neck An abnormality of the neck. tmpxe7fu0cj_hp_relaxed.owl Malformation of the neck|Anomaly of the neck|Deformity of the neck|Abnormality of the neck SNOMEDCT_US:40052002|UMLS:C0575167|UMLS:C0266623|SNOMEDCT_US:298390003|UMLS:C4280628 owl:Class HP:0010498 biolink:NamedThing Bipartite patella A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0265666|SNOMEDCT_US:79214007 peter 2009-09-17T11:39:39Z human_phenotype owl:Class UBERON:0010720 biolink:NamedThing hindlimb zeugopod skeleton Subdivision of skeleton consisting of all skeletal elements in an hindlimb zeugopod region. Typically consists of the tibia and the fibula. tmpxe7fu0cj_hp_relaxed.owl posterior zeugopodium skeleton|hindlimb zygopod skeleton|hindlimb epipodium|hind epipodium|mesomere 2 of pelvic appendage|skeleton cruris|crus skeleton|posterior zeugopodium|crural skeleton AAO:0000216|VSAO:0005014 uberon owl:Class Segment of the leg corresponding to the tibia and fibula.[AAO] UBERON:0011584 biolink:NamedThing zeugopodial skeleton Section of the forelimb skeleton located between the stylopodium and the autopodium. tmpxe7fu0cj_hp_relaxed.owl epipodial skeleton|mesomere 2|zeugopod skeleton|skeleton of zeugopod|epipodium|mesomere 2 skeleton|zygopodium VSAO:0005010 uberon owl:Class zeugopodial|zygopodial HP:0041231 biolink:NamedThing Fractured metatarsal bone of digit 1 A partial or complete breakage of the metatarsal bone of digit 1. tmpxe7fu0cj_hp_relaxed.owl bone metatarsal bone of digit 1 owl:Class GO:0031346 biolink:NamedThing positive regulation of cell projection organization Any process that activates or increases the frequency, rate or extent of the process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. tmpxe7fu0cj_hp_relaxed.owl up-regulation of cell projection organization|up regulation of cell projection organization|stimulation of cell projection organization|positive regulation of cell projection organisation|upregulation of cell projection organization|positive regulation of cell projection organization and biogenesis|activation of cell projection organization biological_process owl:Class GO:0051130 biolink:NamedThing positive regulation of cellular component organization Any process that activates or increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpxe7fu0cj_hp_relaxed.owl activation of cell organization|upregulation of cell organization|stimulation of cell organization|positive regulation of cellular component organization and biogenesis|up-regulation of cell organization|up regulation of cell organization|positive regulation of cell organisation biological_process owl:Class HP:0033823 biolink:NamedThing Mediastinal mass A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:25:09+00:00 peter owl:Class HP:0033822 biolink:NamedThing Mass on thoracic imaging A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:24:00+00:00 peter owl:Class HP:0005556 biolink:NamedThing Abnormality of the metopic suture The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a "metopic suture". tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025180 peter 2008-03-27T10:04:00Z human_phenotype owl:Class HP:0000758 biolink:NamedThing Impaired use of nonverbal behaviors Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures. tmpxe7fu0cj_hp_relaxed.owl Impaired use of nonverbal behaviors|Impaired use of nonverbal behaviours UMLS:C4021798 human_phenotype owl:Class HP:0000735 biolink:NamedThing Impaired social interactions Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships. tmpxe7fu0cj_hp_relaxed.owl Poor social interactions|Impaired social interaction|Impaired social interactions MSH:D000067404|UMLS:C0150080|SNOMEDCT_US:88598008 human_phenotype owl:Class HP:0012364 biolink:NamedThing Decreased urinary potassium A decreased concentration of potassium(1+) in the urine. tmpxe7fu0cj_hp_relaxed.owl Decreased urinary K|Hypokaliuria|Hypokaluria|Low urine potassium levels SNOMEDCT_US:54781007|UMLS:C0268024 peter 2013-10-03T10:21:51Z owl:Class CHEBI:68641 biolink:NamedThing (-)-cotinine An N-alkylpyrrolidine that consists of N-methylpyrrolidinone bearing a pyridin-3-yl substituent at position C-5 (the 5S-enantiomer). It is an alkaloid commonly found in Nicotiana tabacum. tmpxe7fu0cj_hp_relaxed.owl cotinina|cotininum|(5S)-1-methyl-5-(pyridin-3-yl)pyrrolidin-2-one|(S)-1-Methyl-5-(3-pyridinyl)-2-pyrrolidinone|(S)-(-)-Cotinine|cotinine|(S)-Cotinine 0 C10H12N2O InChI=1S/C10H12N2O/c1-12-9(4-5-10(12)13)8-3-2-6-11-7-8/h2-3,6-7,9H,4-5H2,1H3/t9-/m0/s1 UIKROCXWUNQSPJ-VIFPVBQESA-N 176.21510 176.09496 [H][C@]1(CCC(=O)N1C)c1cccnc1 PMID:22027507|HMDB:HMDB0001046|PMID:22678157|PMID:14700346|Drug_Central:737|MetaCyc:CPD-2742|PMID:23000417|PMID:22434216|CAS:486-56-6|PMID:22180597|PMID:22809871|PMID:22460317|PMID:22489581|Reaxys:5736575|PMID:22687995|PMID:22487419|PMID:22137886|PMID:22878732|PMID:22919158|PMID:22244928|PMID:22169225|PMID:22871902|Wikipedia:Cotinine|PMID:22770225|PMID:22253001|PMID:22608097|PMID:21953524|PMID:22899265|PMID:22574797|LINCS:LSM-5986|PMID:23087643|KNApSAcK:C00034470|PMID:21655912|Reaxys:83099|PMID:22200307|PMID:23011941 chebi_ontology owl:Class UBERON:0003618 biolink:NamedThing aorta tunica media The middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers. tmpxe7fu0cj_hp_relaxed.owl trunk of aortic tree tunica media|tunica media of adult aorta|tunica media of aorta|tunica media of trunk of aortic tree|dorsal aorta tunica media|tunica media of dorsal aorta|adult aorta tunica media SCTID:48467007|FMA:74433|MA:0002903|EMAPA:35138 uberon owl:Class UBERON:0001985 biolink:NamedThing corneal endothelium A monolayer of specialized, flattened, mitochondria-rich cells that lines the posterior surface of the cornea and faces the anterior chamber of the eye[WP]. tmpxe7fu0cj_hp_relaxed.owl cornea endothelium|epithelium posterius corneae|endothelium of cornea TAO:0002186|CALOHA:TS-0172|SCTID:368827009|Wikipedia:Corneal_endothelium|MESH:D004728|UMLS:C0014259|ZFA:0001687|EMAPA:35935|NCIT:C12707|FMA:63882|GAID:891|MA:0001242 http://upload.wikimedia.org/wikipedia/commons/6/66/Gray871.png uberon owl:Class HP:0000834 biolink:NamedThing Abnormality of the adrenal glands Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. tmpxe7fu0cj_hp_relaxed.owl Adrenal abnormalities|Adrenal gland disease UMLS:C0001621|MSH:D000307|SNOMEDCT_US:30171000|UMLS:C4021794 human_phenotype owl:Class HP:0000818 biolink:NamedThing Abnormality of the endocrine system An abnormality of the endocrine system. tmpxe7fu0cj_hp_relaxed.owl Endocrine system disease SNOMEDCT_US:362969004|MSH:D004700|UMLS:C0014130|UMLS:C4025823 The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions. human_phenotype owl:Class MPATH:98 biolink:NamedThing lymphangiectasis A stretching and widening of the lymphatic vessels. tmpxe7fu0cj_hp_relaxed.owl telangiectasia lymphatica|Lymphectasia mouse_pathology.ontology owl:Class MPATH:474 biolink:NamedThing ectasia Dilation of a tubular structure. tmpxe7fu0cj_hp_relaxed.owl Often associated with an obstruction. mouse_pathology.ontology owl:Class HP:0032505 biolink:NamedThing Hydrophobia Pharyngeal spasms provoked by an attempt to drink. tmpxe7fu0cj_hp_relaxed.owl 2019-05-23 23:03:09+00:00 Hydrophobia has been described as a characteristic finding in rabies and can prevent patients from drinking despite intense thirst. peter owl:Class HP:0010200 biolink:NamedThing Symphalangism affecting the middle phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Fused middle bones of toes UMLS:C4023973 doelkens 2009-05-29T01:53:35Z human_phenotype owl:Class HP:0100153 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022268 doelkens 2010-06-24T10:24:13Z human_phenotype owl:Class UBERON:0005985 biolink:NamedThing coronary vessel Any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation. tmpxe7fu0cj_hp_relaxed.owl MESH:D003331|Wikipedia:Coronary_circulation TODO - change relation from part_of uberon owl:Class HP:0012633 biolink:NamedThing Asymmetry of intraocular pressure A difference in the amount of intraocular pressure in the right and left eye. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3805901 peter 2014-01-17T11:21:18Z human_phenotype owl:Class HP:0012632 biolink:NamedThing Abnormal intraocular pressure An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. tmpxe7fu0cj_hp_relaxed.owl Abnormal eye pressure|Abnormal intraocular pressure MP:0005257|SNOMEDCT_US:24075007|UMLS:C0520999 peter 2014-01-17T11:20:17Z human_phenotype owl:Class GO:0014023 biolink:NamedThing neural rod formation The formation of a solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0002548 biolink:NamedThing monocyte chemotaxis The movement of a monocyte in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0006983 biolink:NamedThing anatomical point Non-material anatomical entity of zero dimension, which forms a boundary of an anatomical line or surface. tmpxe7fu0cj_hp_relaxed.owl BILA:0000009|FMA:9658|CARO:0000009|EHDAA2:0003009|AEO:0000009|TAO:0001839|AAO:0010266 uberon owl:Class HP:0410260 biolink:NamedThing Asymmetrical gluteal crease The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg. tmpxe7fu0cj_hp_relaxed.owl Asymmetrical horizontal gluteal crease|Asymmetrical buttock crease|Asymmetrical gluteal sulcus 2018-10-19 21:42:53+00:00 owl:Class HP:0001437 biolink:NamedThing Abnormality of the musculature of the lower limbs tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025784 peter 2008-04-07T10:21:00Z human_phenotype owl:Class HP:0030778 biolink:NamedThing Modic type III vertebral endplate changes An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs. tmpxe7fu0cj_hp_relaxed.owl Modic type 3 vertebral endplate changes UMLS:C4280775 owl:Class HP:0030775 biolink:NamedThing Modic type vertebral endplate changes An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280778 owl:Class NBO:0000258 biolink:NamedThing bipolar disorder "A mood disorder formerly characterised by alternating periods of mania and depression (and in some cases rapid cycling, mixed states, and psychotic symptoms)." [wikipedia:Bipolar_disorder] NBO:0000258 tmpxe7fu0cj_hp_relaxed.owl manic depression|BD|bipolar affective disorder 2011-04-04T08:55:45Z George Gkoutos behavior_ontology owl:Class NBO:0000256 biolink:NamedThing mood disorder tmpxe7fu0cj_hp_relaxed.owl 2011-04-04T08:55:19Z George Gkoutos behavior_ontology owl:Class UBERON:0017671 biolink:NamedThing bony part of vertebral arch of first sacral vertebra A bony part of vertebral arch that is part of a sacral vertebra 1. tmpxe7fu0cj_hp_relaxed.owl bony part of vertebral arch of first sacral segment FMA:32395 uberon owl:Class UBERON:0016419 biolink:NamedThing bony part of vertebral arch tmpxe7fu0cj_hp_relaxed.owl bony part of arch of vertebra FMA:29741 uberon owl:Class CHEBI:33942 biolink:NamedThing ribose Any aldopentose where the open-chain form has all the hydroxy groups on the same side in the Fischer projection. Occurrs in two enantiomeric forms, D- and L-ribose, of which only the former is found in nature. tmpxe7fu0cj_hp_relaxed.owl Rib|ribose|ribo-pentose 0 C5H10O5 150.130 150.05282 CHEBI:26564 chebi_ontology owl:Class CHEBI:33916 biolink:NamedThing aldopentose A pentose with a (potential) aldehyde group at one end. tmpxe7fu0cj_hp_relaxed.owl aldopentoses|aldopentose PMID:10723607 chebi_ontology owl:Class HP:0031918 biolink:NamedThing Ovarian sex cord-stromal tumor A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. tmpxe7fu0cj_hp_relaxed.owl Ovarian sex cord-stromal tumour 2018-07-02 10:46:29+00:00 peter owl:Class UBERON:0010573 biolink:NamedThing manual digit 4 metacarpus cartilage element A manual digit metacarpus cartilage element that is part of a manual digit 4 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl manual digit IV metacarpus cartilage element|finger 4 metacarpus cartilage condensation|metacarpus 4 cartilage element|hand digit 4 metacarpus cartilage element|fore limb digit 4 metacarpus cartilage element EMAPA:18080|EHDAA2:0000532 uberon owl:Class UBERON:0015046 biolink:NamedThing manual digit 4 metacarpus endochondral element A manual digit 4 metacarpus bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl manual digit IV metacarpus endochondral element|manual digit 4 metacarpus skeletal element|manual digit 4 metacarpus element uberon owl:Class UBERON:0001507 biolink:NamedThing biceps brachii A muscle in the forelimb stylopod which in humans has several functions, the most important being to rotate the forearm and to flex the elbow. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl biceps brachii %26 brachialis muscles|biceps muscle|biceps cubiti|musculus biceps brachii|biceps brachii muscle|biceps UMLS:C0559499|EHDAA2:0000167|EMAPA:19108|VHOG:0000861|NCIT:C32200|FMA:37670|MA:0002269|EHDAA:8279|BTO:0003419 https://upload.wikimedia.org/wikipedia/commons/5/5d/Biceps_brachii_muscle06.png uberon owl:Class UBERON:0004255 biolink:NamedThing forelimb stylopod muscle Any muscle organ that is part of a forelimb stylopod (upper arm)[Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl upper arm muscle|wing stylopod muscle|muscle of arm|muscle of upper arm|skeletal muscle of upper arm EMAPA:19107|FMA:37370|MA:0000606 the FMA class 'muscle of arm' belongs here, do not move uberon owl:Class See notes on UBERON:0001460 for possible terminological confusion over term 'arm' HP:0001468 biolink:NamedThing Aplasia/Hypoplasia involving the musculature of the upper arm Absence or underdevelopment of the muscles of the upper arm. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped upper arm muscles|Absent/small upper arm muscles UMLS:C4025769 peter 2008-04-07T10:52:00Z human_phenotype owl:Class GO:2000265 biolink:NamedThing positive regulation of blood coagulation, extrinsic pathway Any process that activates or increases the frequency, rate or extent of blood coagulation, extrinsic pathway. tmpxe7fu0cj_hp_relaxed.owl mah 2010-11-23T11:44:46Z biological_process owl:Class HP:0006273 biolink:NamedThing Pancreatic lymphangiectasis The presence of lymphangiectasis in the pancreas. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856162 human_phenotype owl:Class HP:0031842 biolink:NamedThing Lymphangiectasis Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma. tmpxe7fu0cj_hp_relaxed.owl Lymphangiectasia 2018-05-05 14:44:27+00:00 peter owl:Class HP:0032251 biolink:NamedThing Abnormal immune system morphology tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 16:44:33+00:00 peter owl:Class GO:2000260 biolink:NamedThing regulation of blood coagulation, common pathway Any process that modulates the frequency, rate or extent of blood coagulation, common pathway. tmpxe7fu0cj_hp_relaxed.owl mah 2010-11-23T11:42:40Z biological_process owl:Class HP:0000527 biolink:NamedThing Long eyelashes Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). tmpxe7fu0cj_hp_relaxed.owl Ciliary trichomegaly|Long eyelashes|Unusually long eyelashes|Increased length of eyelashes|Eyelash trichomegaly UMLS:C1853738 Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes. HP:0000500 human_phenotype owl:Class CL:0002260 biolink:NamedThing epithelial cell of parathyroid gland An epithelial cell of the parathyroid gland. tmpxe7fu0cj_hp_relaxed.owl FMA:70547 tmeehan 2010-09-08T02:29:38Z CL:1000429 cell owl:Class HP:0031103 biolink:NamedThing Decreased antimullerian hormone level A reduction below the normal range of the antimullerian hormone in the circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased plasma AMH 2017-05-30 02:37:50+00:00 peter owl:Class HP:0031101 biolink:NamedThing Abnormal circulating antimullerian hormone concentration Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. tmpxe7fu0cj_hp_relaxed.owl Abnormal antimullerian hormone level 2017-05-30 02:34:22+00:00 peter owl:Class HP:0010303 biolink:NamedThing Abnormal spinal meningeal morphology Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the spinal meninges UMLS:C4023914 peter 2009-07-12T01:10:09Z human_phenotype owl:Class HP:0010651 biolink:NamedThing Abnormal meningeal morphology An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the meninges UMLS:C4023758 peter 2010-02-25T10:19:40Z owl:Class HP:0001128 biolink:NamedThing Trichiasis Inversion and rubbing of the eyelashes against the globe of the eye. tmpxe7fu0cj_hp_relaxed.owl Introversion of eyelashes|Ingrown eyelashes|Trichiasis of eyelid eyelashes MSH:D058457|SNOMEDCT_US:60332004|UMLS:C0221259 Eyelash inversion. human_phenotype owl:Class HP:0100187 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 4th toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022234 doelkens 2010-06-24T04:54:13Z owl:Class UBERON:0001366 biolink:NamedThing parietal peritoneum The outer layer of peritoneum that is attached to the abdominal and pelvic walls. tmpxe7fu0cj_hp_relaxed.owl peritoneal cavity lining|parietal serous membrane of peritoneum ZFA:0005131|AAO:0010816|VHOG:0001527|FMA:21451|SCTID:362700006|EMAPA:16591|Wikipedia:Parietal_peritoneum|TAO:0005131 http://upload.wikimedia.org/wikipedia/commons/5/5f/Gray1040.png UBERON:0004459 uberon owl:Class Peritoneum attached to the abdominal wall.[AAO] UBERON:0003918 biolink:NamedThing kidney mesenchyme Kidney mesenchyme is the tissue made up of loosely connected mesenchymal cells in the kidney[GO]. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of kidney check this uberon owl:Class HP:0033653 biolink:NamedThing Bronchocele A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion. tmpxe7fu0cj_hp_relaxed.owl 2021-02-24 13:34:13+00:00 See Figure 13 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0003323 biolink:NamedThing Progressive muscle weakness tmpxe7fu0cj_hp_relaxed.owl Progressive muscular weakness|Muscle weakness, progressive UMLS:C0240421 HP:0009032 human_phenotype owl:Class GO:0048852 biolink:NamedThing diencephalon morphogenesis The process in which the anatomical structures of the diencephalon are generated and organized. The diencephalon is the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025223 biolink:NamedThing Triggered by smoking Applies to a sign or symptom that is provoked or brought about by smoking. tmpxe7fu0cj_hp_relaxed.owl Triggered by cigarette consumption|Triggered by tobacco use|Triggered by smoking|Smoking triggered symptoms 2016-12-10 14:07:58+00:00 HPO:probinson owl:Class HP:0025204 biolink:NamedThing Triggered by A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation. tmpxe7fu0cj_hp_relaxed.owl 2016-12-10 13:33:36+00:00 HPO:probinson owl:Class HP:0410327 biolink:NamedThing Dairy allergy Hypersensitivity in form of an adverse immune reaction against dairy. tmpxe7fu0cj_hp_relaxed.owl Immunoglobulin E-mediated dairy allergy|IgE-mediated dairy allergy|Dairy allergy|Allergy to dairy owl:Class UBERON:0036661 biolink:NamedThing wall of ventricular system of brain tmpxe7fu0cj_hp_relaxed.owl FMA:242841 uberon owl:Class UBERON:0036242 biolink:NamedThing post-embryonic notochord A notochord that has persisted beyond the embryonic stage. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0002328 biolink:NamedThing notochord A flexible rod-shaped body found in embryos of all chordates. It is composed of cells derived from the mesoderm and defines the primitive axis of the embryo. In some chordates, it persists throughout life as the main axial support of the body, while in most vertebrates it becomes the nucleus pulposus of the intervertebral disc. The notochord is found ventral to the neural tube. tmpxe7fu0cj_hp_relaxed.owl embryonic notocord|notochorda|notocord EHDAA:6021|TAO:0000135|Wikipedia:Notochord|EV:0100002|VSAO:0000032|EHDAA2:0001277|MESH:A16.254.610|BTO:0001768|VHOG:0000199|XAO:0000055|ZFA:0000135|NCIT:C12463|AAO:0000327|CALOHA:TS-0690|SCTID:308820002|http://evolution.berkeley.edu/evolibrary/images/history/notochords.jpg|UMLS:C0028439|MAT:0000281|FMA:85521|EHDAA:1241|EMAPA:16191|GAID:1311 The notochord appears early in embryogeny and plays an important role in promoting or organizing the embryonic development of nearby structures. In most adult chordates the notochord disappears or becomes highly modified. In some non-vertebrate chordates and fishes the notochord persists as a laterally flexible but incompressible skeletal rod that prevents telescopic collapse of the body during swimming[TOLWEB] http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png uberon owl:Class Slender rod of fibrous connective tissue surrounding a core of fluid-filled cells of mesodermal origin; it lies above the gut and directly beneath the spinal cord. The notochord is present during early development and in a few cases it is retained through life; however, usually the notochord is replaced by the vertebral column.[AAO]|Avascular multi-tissue structure composed of large vacuolated epithelial cells (chordablasts) and perichordal fibrous tissue.[VSAO]|Rod-like principal supportive element of the embryo and larva, present in the midline just ventral to the neural tube, and differentiating during the segmentation period to form large vacuolated epithelial cells and a surrounding a sheath of fibrous and elastic layers. Layering of the sheath may differ in structure, thickness and development among groups; in cypriniforms there are actually three very thin layers to the sheath. A functional, well developed notochord is present throughout life in certain basal fish groups but not in cypriniforms. Kimmel et al, 1995.[TAO] relationship type change: differentiates_from mesoderm (AAO:0000304) CHANGED TO: develops_from mesoderm (UBERON:0000926)[AAO] (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (3) a stiff, longitudinal rod of turgid cells along the dorsal part of the body that is called a notochord (...).[well established][VHOG] notochordal In between vertebra the notochord becomes the nucleus pulposus, under it degenerates, and at anterior end in some species its tissue merges with some of the cranial bones.. Some organisms retain a post-embryonic notochord. HP:0000202 biolink:NamedThing Oral cleft The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. tmpxe7fu0cj_hp_relaxed.owl Cleft lip, cleft palate|Cleft lip/palate|Oral clefting|Cleft of the mouth UMLS:C0158646|SNOMEDCT_US:66948001|UMLS:C4021813|SNOMEDCT_US:253983005 human_phenotype owl:Class UBERON:0004439 biolink:NamedThing proximal epiphysis of middle phalanx of manual digit 5 A proximal epiphysis that is part of a middle phalanx of manual digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of middle phalanx of fifth digit of hand|basal epiphysis of middle phalanx of fifth finger|base of middle phalanx of fifth finger|base of middle phalanx of little finger|proximal epiphysis of middle phalanx of manual digit V|proximal epiphysis of middle phalanx of little finger|basal epiphysis of middle phalanx of little finger FMA:37538 uberon owl:Class UBERON:0004478 biolink:NamedThing musculature of larynx The collection of muscles that are part of the larynx. tmpxe7fu0cj_hp_relaxed.owl set of muscles of larynx|laryngeal muscles|set of laryngeal muscles|laryngeal muscles set|muscle group of larynx FMA:46616|MESH:D007821|FMA:264611|Wikipedia:Muscles_of_larynx currently defined by location rather than attachment uberon owl:Class UBERON:0019293 biolink:NamedThing white matter of pontine tegmentum tmpxe7fu0cj_hp_relaxed.owl predominantly white regional part of pontine tegmentum|pontine white matter tracts|white substance of pontile tegmentum|white matter of pontile tegmentum|substantia alba tegmenti pontis BIRNLEX:1069|HBA:265505486|FMA:83942 UBERON:0025819 uberon owl:Class UBERON:0002316 biolink:NamedThing white matter Neural tissue consisting of myelinated axons connecting grey matter areas of the central nervous system. tmpxe7fu0cj_hp_relaxed.owl CNS tract/commissure|CNS tracts and commissures|white mater|white matter of neuraxis|CNS white matter|white substance|substantia alba|neuronal white matter EMAPA:35927|NLX:412|TAO:0000145|FMA:83929|AEO:0000139|NLXANAT:101177|PBA:294022044|NCIT:C33892|TAO:0002142|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2870|HBA:9218|ZFA:0001682|OpenCyc:Mx4rwOAsDZwpEbGdrcN5Y29ycA|MA:0001135|Wikipedia:White_matter|VHOG:0001764|AEO:0001011|UMLS:C0682708|TAO:0002143 Spinal:nerve.svg|http://upload.wikimedia.org/wikipedia/commons/d/d7/Grey_matter_and_white_matter_-_very_high_mag.jpg uberon owl:Class Multi-tissue structure comprised largely of myelinated axons.[TAO]|Cell part cluster consisting predominantly of neurites in the brain and the spinal cord[FMA:83929]. The myelination of axons by glial cells was the last major step in the evolution of cells in the vertebrate nervous system, and white-matter tracts are key to the architecture of the mammalian brain.[well established][VHOG] nlx_anat_101177 seems to have been lost in the transition from NIFGA to Neurolex HP:0009622 biolink:NamedThing Distally placed thumb Insertion of thumb at a more distal location than normal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024270 doelkens 2009-01-29T04:40:23Z HP:0005755 human_phenotype owl:Class HP:0009603 biolink:NamedThing Deviation of the thumb Displacement of the thumb from its normal position. tmpxe7fu0cj_hp_relaxed.owl Abnormal thumb placement|Displacement of the thumb|Deviated thumb UMLS:C3552414 doelkens 2009-01-29T01:49:57Z HP:0004062 human_phenotype owl:Class HP:0032012 biolink:NamedThing Heterotropia Manifest deviation of the visual axes not controlled by fusion. tmpxe7fu0cj_hp_relaxed.owl 2018-07-22 15:46:55+00:00 The distinction between heterotropia and heterophoria is that heterotropia refers to a misalignment of the eyes when the affected individual is looking at an object while the eyes are uncovered whereas heterophoria is a misalignment that is observed only when the two eyes are no longer looking at the same object. The monocular cover-uncover test is the most important test for detecting the presence of manifest strabismus and for differentiating a heterophoria from a heterotropia. peter owl:Class CL:0000562 biolink:NamedThing nucleate erythrocyte An erythrocyte having a nucleus. tmpxe7fu0cj_hp_relaxed.owl RBC|red blood cell cell owl:Class CL:0002242 biolink:NamedThing nucleate cell A cell containing at least one nucleus. tmpxe7fu0cj_hp_relaxed.owl FMA:67513 tmeehan 2010-09-07T03:32:33Z cell owl:Class HP:0500159 biolink:NamedThing Increased level of circulating aspartic acid An increased amount of aspartic acid in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased blood aspartic acid|High blood aspartic acid levels 2018-10-05 15:38:23+00:00 owl:Class HP:0500158 biolink:NamedThing Abnormal circulating aspartic acid concentration Any deviation from the normal concentration of aspartate in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating aspartate concentration 2018-10-05 15:26:40+00:00 Aspartate is classified as an acidic amino acid. owl:Class HP:0031145 biolink:NamedThing Starry sky appearance on hepatic sonography An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background). tmpxe7fu0cj_hp_relaxed.owl 2017-06-11 19:50:04+00:00 peter owl:Class HP:0031140 biolink:NamedThing Abnormal liver sonography An abnormal appearance of the liver or any of its components on sonography (ultrasound). tmpxe7fu0cj_hp_relaxed.owl 2017-06-11 19:18:39+00:00 peter owl:Class HP:0031809 biolink:NamedThing Archibald's sign Shortening of the fourth and fifth metacarpals when the fist is clenched. tmpxe7fu0cj_hp_relaxed.owl Archibald's metacarpal sign|Knuckle dimple 2018-04-28 14:18:49+00:00 In 1959, Archibald, Finlay, and De Vito were the first to describe a sign that depended on the relative lengths of the lateral three metacarpals (the metacarpal finding). When a line is drawn tangentially to the circumference of the heads (distal ends) of the fourth and fifth metacarpals, the extension of this line normally passes distally to the head of the third metacarpal and does not intersect the third metacarpal (negative metacarpal finding). In some hands such a line is tangential also to the circumference of the head of the third metacarpal (borderline metacarpal finding). In others the line runs through the distal end of the third metacarpal (positive metacarpal finding). peter owl:Class HP:0032154 biolink:NamedThing Aphthous ulcer Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. tmpxe7fu0cj_hp_relaxed.owl Canker sore 2018-12-02 14:06:55+00:00 peter owl:Class HP:0032604 biolink:NamedThing Renal tubular epithelial cell mitosis Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011675 biolink:NamedThing Arrhythmia Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. tmpxe7fu0cj_hp_relaxed.owl Irregular heart beat|Cardiac arrhythmia|Cardiac arrhythmias|Abnormal heart rate|Cardiac rhythm disturbances|Irregular heartbeat|Heart rhythm disorders|Arrhythmias UMLS:C1832603|SNOMEDCT_US:44808001|UMLS:C0855329|SNOMEDCT_US:698247007|UMLS:C0264886|UMLS:C1842820|UMLS:C0003811|MSH:C562490|SNOMEDCT_US:102594003|UMLS:C0522055|MSH:D001145 peter 2012-04-09T12:47:32Z HP:0001666|HP:0001656|HP:0001661|HP:0004351|HP:0001665|HP:0001687|HP:0005158|HP:0001675|HP:0001721 human_phenotype owl:Class HP:0012619 biolink:NamedThing Multiple bladder diverticula Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl Multiple pouches in bladder wall UMLS:C4022817 peter 2014-01-17T12:21:05Z human_phenotype owl:Class HP:0000015 biolink:NamedThing Bladder diverticulum Diverticulum (sac or pouch) in the wall of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl Bladder diverticula SNOMEDCT_US:197866008|UMLS:C0156273|MSH:C562406 human_phenotype owl:Class UBERON:0004260 biolink:NamedThing upper arm blood vessel A blood vessel that is part of a forelimb stylopod [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl forelimb stylopod blood vessel MA:0000603|EMAPA:37294 uberon owl:Class HP:0010934 biolink:NamedThing Xanthinuria An increased concentration of xanthine in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urinary xanthine SNOMEDCT_US:54627004|UMLS:C0220988|SNOMEDCT_US:190919008 Xanthinuria is generally caused by a defect in the xanthine oxidase, an enzyme that catalyzes the oxidation of hypoxanthine to xanthine and can further catalyze the oxidation of xanthine to uric acid. The formation of xanthine stones in the urinary tract is the main evidence of this abnormality. peter 2011-01-10T07:55:12Z human_phenotype owl:Class GO:0002626 biolink:NamedThing negative regulation of T cell antigen processing and presentation Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl inhibition of T cell antigen processing and presentation|down regulation of T cell antigen processing and presentation|down-regulation of T cell antigen processing and presentation|negative regulation of T lymphocyte antigen processing and presentation|negative regulation of T-lymphocyte antigen processing and presentation|negative regulation of T-cell antigen processing and presentation|downregulation of T cell antigen processing and presentation biological_process owl:Class HP:0001912 biolink:NamedThing Abnormal basophil morphology Any structural abnormality or abnormal count of basophils. tmpxe7fu0cj_hp_relaxed.owl Abnormality of basophils UMLS:C4025736 Basophils are myeoloid granulocytes and part of the innate immune system. They represent the least abundant granulocyte population in mammals. They have a complex, almost C-shaped nucleus. Their granules stain blue with basic dye. They are not phagacytic. They are involved in the immune response to worms. Their cell surface has Fc receptors which may be attached to class E antibodies. human_phenotype owl:Class HP:0001911 biolink:NamedThing Abnormal granulocyte morphology Any structural abnormality or abnormal count of granulocytes. tmpxe7fu0cj_hp_relaxed.owl Abnormality of granulocytes UMLS:C0427515|SNOMEDCT_US:250274006 HP:0005438 human_phenotype owl:Class UBERON:0015142 biolink:NamedThing falciform fat A large fat pad that is located at the base of the abdominal wall, in the falciform ligament of the liver. tmpxe7fu0cj_hp_relaxed.owl falciform ligament fat pad|falciform fat depot uberon owl:Class UBERON:0015143 biolink:NamedThing mesenteric fat pad Encapsulated adipose tissue associated with the mesentery. tmpxe7fu0cj_hp_relaxed.owl mesenteric fat depot uberon owl:Class CL:0002191 biolink:NamedThing granulocytopoietic cell A cell involved in the formation of a granulocyte. tmpxe7fu0cj_hp_relaxed.owl FMA:83519 tmeehan 2010-08-30T12:54:27Z cell owl:Class UBERON:0036146 biolink:NamedThing cardiopharyngeal field An region of the mesoderm that includes anterior lateral mesoderm of the first heart field plus contiguous pharyngeal mesoderm that gives rise to second-heart-field-derived regions of the heart and branchiomeric muscles. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0007688 biolink:NamedThing anlage Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue. tmpxe7fu0cj_hp_relaxed.owl future organ|field|organ field|developmental field Wikipedia:Anlage_(biology)|EFO:0001649|FBbt:00005426|EHDAA2:0003170|AEO:0000170 uberon owl:Class UBERON:0001486 biolink:NamedThing hip joint A synovial joint that connects the femur to the acetbulum of the innominate bone. tmpxe7fu0cj_hp_relaxed.owl coxal articulation|femoro-iliac joint|articulatio coxofemoralis galen:HipJoint|NCIT:C32742|BTO:0001502|MA:0000470|UMLS:C0019558|MESH:D006621|OpenCyc:Mx4rwP32b5wpEbGdrcN5Y29ycA|VHOG:0001001|GAID:262|FMA:35178|EMAPA:19136 uberon owl:Class UBERON:0004447 biolink:NamedThing proximal epiphysis of phalanx A proximal epiphysis that is part of a phalanx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0050790 biolink:NamedThing regulation of catalytic activity Any process that modulates the activity of an enzyme. tmpxe7fu0cj_hp_relaxed.owl regulation of metalloenzyme activity|regulation of enzyme activity GO:0048552 biological_process owl:Class GO:0061048 biolink:NamedThing negative regulation of branching involved in lung morphogenesis Any process that decreases the rate, frequency, or extent of the process in which a highly ordered sequence of patterning events generates the branched structures of the lung, consisting of reiterated combinations of bud outgrowth, elongation, and dichotomous subdivision of terminal units. tmpxe7fu0cj_hp_relaxed.owl dph 2010-02-25T10:51:31Z biological_process owl:Class HP:0033398 biolink:NamedThing Pleural plaque Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 14:32:56+00:00 Pleural plaques are indicative of asbestos exposure. Grossly, the pleural plaque is characterized by hyalinized discrete elevated gray-white or pearly areas involving the parietal pleura. Despite varying sizes and shapes, the pattern of the plaques is repetitive. There is a flat or slightly uneven surface, with steep edges rising abruptly from the surrounding normal pleura, and here and there rounded mounds, with somewhat overhanging edges. The thick pleural plaques are typical in appearance, and the classic comparison is to frosting or sugar icing (Zuckerguss), as is seen on serous membranes. peter owl:Class HP:0002103 biolink:NamedThing Abnormal pleura morphology An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the pleura UMLS:C4025726 human_phenotype owl:Class HP:0007153 biolink:NamedThing Progressive extrapyramidal movement disorder tmpxe7fu0cj_hp_relaxed.owl UMLS:C2748610 human_phenotype owl:Class HP:0002071 biolink:NamedThing Abnormality of extrapyramidal motor function A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). tmpxe7fu0cj_hp_relaxed.owl Extrapyramidal syndrome|Extrapyramidal symptoms|Extrapyramidal dysfunction|Extrapyramidal signs|Extrapyramidal tract signs UMLS:C0234133|SNOMEDCT_US:76349003|UMLS:C0015371|SNOMEDCT_US:43378000|MSH:D001480 The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. HP:0007113|HP:0006810 owl:Class HP:0011172 biolink:NamedThing Complex febrile seizure A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period. tmpxe7fu0cj_hp_relaxed.owl Complex febrile seizures|Complex febrile convulsion|Complex fever fit SNOMEDCT_US:433083002|MSH:D003294|UMLS:C0751057 Children presenting with a prolonged seizure stopped with anticonvulsive therapy (i.e., diazepam) before the 15th minute should be classified within this group. hecht 2011-11-19T10:10:00Z human_phenotype owl:Class HP:0002373 biolink:NamedThing Febrile seizure (within the age range of 3 months to 6 years) A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. tmpxe7fu0cj_hp_relaxed.owl Febrile seizures|Fever induced seizures|Seizures, generalized, associated with fever|Febrile convulsion|Seizures, febrile, in early childhood SNOMEDCT_US:41497008|MSH:D003294|UMLS:C0009952 Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. HP:0007102|HP:0002175 owl:Class HP:0032885 biolink:NamedThing Focal impaired awareness cognitive seizure with hallucination A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0012007 biolink:NamedThing Focal cognitive seizure with hallucination A focal cognitive seizure characterized by hallucination as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl Hallucinatory auras|Hallucinatory aura UMLS:C4023084 Hallucination is the creation of composite perceptions without the presence of external sensory stimuli, these may be visual (e.g. formed images), auditory (e.g. hearing voices) or involve other sensory modalities, without change in awareness. The sensory phenomena may be accompanied by associated emotion or interpretation e.g. a formed visual image may be accompanied by fear, or may be experienced as persecutory or with paranoia (i.e. with unjustified suspicion / mistrust). These features distinguish focal seizures with hallucinations from focal sensory seizures. hecht 2012-07-20T11:56:47Z HP:0032703 owl:Class GO:0010839 biolink:NamedThing negative regulation of keratinocyte proliferation Any process that decreases the rate, frequency or extent of keratinocyte proliferation. Keratinocyte proliferation is the multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0010837 biolink:NamedThing regulation of keratinocyte proliferation Any process that modulates the rate, frequency or extent of keratinocyte proliferation. Keratinocyte proliferation is the multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CL:0000083 biolink:NamedThing epithelial cell of pancreas An epithelial cell of the pancreas. tmpxe7fu0cj_hp_relaxed.owl pancreatic epithelial cell|pancreas epithelial cell BTO:0000028 cell owl:Class HP:0003971 biolink:NamedThing Broad forearm bones Abnormally wide bone of the skeleton of forearm. tmpxe7fu0cj_hp_relaxed.owl Wide forearm bones|Broad forearm bones UMLS:C4021700 human_phenotype owl:Class HP:0040073 biolink:NamedThing Abnormal forearm bone morphology tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of of forearm bone UMLS:C4022451 HPO:skoehler owl:Class HP:0009428 biolink:NamedThing Curved distal phalanx of the 3rd finger Curved appearance of the distal phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Curved outermost bone of the 3rd finger UMLS:C4024369 doelkens 2009-01-14T03:16:46Z human_phenotype owl:Class HP:0010332 biolink:NamedThing Deviation of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Displacement of the 3rd toe UMLS:C4021295 doelkens 2009-07-16T11:40:52Z human_phenotype owl:Class GO:0055127 biolink:NamedThing vibrational conductance of sound to the inner ear The transmission of vibrations via ossicles to the inner ear. tmpxe7fu0cj_hp_relaxed.owl jid 2009-10-13T10:59:39Z biological_process owl:Class UBERON:0022361 biolink:NamedThing lung field A specific region of the foregut into the area in which the lung will develop. tmpxe7fu0cj_hp_relaxed.owl lung field SCTID:34922002 uberon owl:Class UBERON:0002425 biolink:NamedThing visceral serous pericardium Visceral serous membrane which is continuous with the parietal serous pericardium and is attached to the myocardium[FMA]. tmpxe7fu0cj_hp_relaxed.owl visceral pericardium|lamina visceralis pericardii serosi|epicardium|visceral layer of serous pericardium|pericardium visceral mesothelium|serous visceral pericardium|visceral lamina of serous pericardium FMA:84882|SCTID:243955001|VHOG:0000538|EMAPA:16589|MA:0000484|EMAPA:19032|Wikipedia:Visceral_pericardium uberon owl:Class HP:0002982 biolink:NamedThing Tibial bowing A bending or abnormal curvature of the tibia. tmpxe7fu0cj_hp_relaxed.owl Bowed shankbone|Bowed tibia|Bowed shinbone|Bowing of the tibia UMLS:C1837081 A developmental defect with posteromedial tibial angulation. HP:0006363 human_phenotype owl:Class GO:0010970 biolink:NamedThing transport along microtubule The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. tmpxe7fu0cj_hp_relaxed.owl movement along microtubule|microtubule-based transport|establishment of localization by movement along microtubule tb 2009-05-27T10:56:08Z biological_process owl:Class UBERON:0010728 biolink:NamedThing sphenoid lesser wing pre-cartilage condensation An orbitosphenoid endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0003449 uberon owl:Class HP:0010752 biolink:NamedThing Cleft mandible Midline deficiency of the mandible and some or all overlying tissues. tmpxe7fu0cj_hp_relaxed.owl Cleft lower jaw|Mandibular cleft SNOMEDCT_US:92822004|UMLS:C0685786 sdoelken 2010-04-23T10:32:09Z human_phenotype owl:Class HP:0010753 biolink:NamedThing Midline defect of mandible tmpxe7fu0cj_hp_relaxed.owl Midline cleft of mandible UMLS:C4023714 sdoelken 2010-04-23T10:32:46Z human_phenotype owl:Class GO:0045649 biolink:NamedThing regulation of macrophage differentiation Any process that modulates the frequency, rate or extent of macrophage differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100383 biolink:NamedThing Aplasia of the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Absent middle bone of little toe|Absent middle bone of pinkie toe|Absent middle bone of pinky toe UMLS:C4022110 human_phenotype owl:Class GO:0061050 biolink:NamedThing regulation of cell growth involved in cardiac muscle cell development Any process that modulates the rate, frequency, or extent of the growth of a cardiac muscle cell, where growth contributes to the progression of the cell over time from its initial formation to its mature state. tmpxe7fu0cj_hp_relaxed.owl dph 2010-02-25T01:05:16Z biological_process owl:Class HP:0006454 biolink:NamedThing Delayed patellar ossification Formation of bone in the patella later than normal. tmpxe7fu0cj_hp_relaxed.owl Delayed bone maturation of the knee cap|Delayed patellae ossification UMLS:C4280446|UMLS:C4021597 The patella initially ossifies at between three and five years, commencing as multiple foci that rapidly coalesce. As the patellar ossification center enlarges the expanding margins may be irregular and associated with accessory ossification centers. These are most common superolaterally and may lead to the development of a bipartite patella. The bipartite patella has cartilaginous continuity despite the appearance of osseous discontinuity. The patella expands to all cartilaginous contours during late adolescence when the epiphyseal ossification centers around the knee are also in the final stages of maturation. The only cartilage not replaced is that occupying the superior two-thirds of the articular surface (the lower one-third is covered by the fat pad). The subchondral plate does not assume the actual articular contours until the late stages of osseous maturation (after ten to twelve years). Accordingly, typical measurements such as medial and lateral angulation cannot be accurately done prior to the final stages of patellar ossification expansion and maturation (PMID:6729496). human_phenotype owl:Class HP:0009290 biolink:NamedThing Short distal phalanx of the 4th finger Hypoplastic/small distal phalanx of the fourth finger. tmpxe7fu0cj_hp_relaxed.owl Short outermost bone of ring finger|Hypoplastic/small distal phalanx of the 4th finger|Short distal phalanx of the fourth finger UMLS:C4021499 doelkens 2009-01-08T03:59:28Z human_phenotype owl:Class HP:0009882 biolink:NamedThing Short distal phalanx of finger Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Distal phalangeal hypoplasia|Brachytelophalangy|Terminal phalangeal hypoplasia of hand|Short outermost finger bone|Hypoplasic terminal phalanges|Hypoplasia of the distal phalanges of the hand|Hypoplasia of the distal phalanges|Short distal phalanges|Hypoplastic terminal phalanges|Hypoplastic distal phalanges UMLS:C1839829 This term differs from Partial absence of the finger because in that term, the phalanx must be missing, whereas in this term it may be small, but present. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Regarding the subjective definition, for individuals who do not have flexion creases, one may determine this by flexing the DIP joint and estimating the length of the terminal segment of the digit. Alternatively, one may be able to palpate the joint. doelkens 2009-04-24T04:29:30Z HP:0001198|HP:0006223|HP:0006132|HP:0006075|HP:0001221|HP:0006076|HP:0006199|HP:0001229|HP:0001202|HP:0005669 human_phenotype owl:Class UBERON:0001167 biolink:NamedThing wall of stomach The layered structure that makes up the stomach, typiclly consists of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between. tmpxe7fu0cj_hp_relaxed.owl anatomical wall of stomach|ventriculus anatomical wall|ventriculus wall|stomach anatomical wall|stomach wall|wall of ventriculus|anatomical wall of ventriculus|gastric wall galen:WallOfStomach|FMA:14582|MA:0002692|EMAPA:35826|SCTID:279995000 uberon owl:Class HP:0004415 biolink:NamedThing Pulmonary artery stenosis An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. tmpxe7fu0cj_hp_relaxed.owl Narrowing of lung artery Fyler:1622|UMLS:C0238397|MSH:D000071079|SNOMEDCT_US:95441000 Stenosis, or narrowing, of the branches of the pulmonary artery is a type of congenital heart disease that, if left untreated, may lead to significant complications. Ideally, interventions to treat stenosis occur before significant complications or long-term sequelae take place, often within the first 2 years of life. ORCID:0000-0002-0736-9199 2008-03-18T09:28:00Z human_phenotype owl:Class GO:1905521 biolink:NamedThing regulation of macrophage migration Any process that modulates the frequency, rate or extent of macrophage migration. tmpxe7fu0cj_hp_relaxed.owl sl 2016-10-03T15:29:06Z biological_process owl:Class HP:0005619 biolink:NamedThing Thoracolumbar kyphosis Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. tmpxe7fu0cj_hp_relaxed.owl Thoracolumbar gibbus deformity|Thoracolumbar gibbus UMLS:C1855418 HP:0003439 human_phenotype owl:Class HP:0002942 biolink:NamedThing Thoracic kyphosis Over curvature of the thoracic region, leading to a round back or if sever to a hump. tmpxe7fu0cj_hp_relaxed.owl Accentuated thoracic kyphosis|Exaggerated thoracic kyphosis UMLS:C1184919 human_phenotype owl:Class GO:0035869 biolink:NamedThing ciliary transition zone A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. tmpxe7fu0cj_hp_relaxed.owl connecting cilium|cilial transition zone|cilium transition zone Depending on the species, this region may have a distinct geometrically shaped electron-dense structure within the axonemal lumen visible in electron microscopy images; most animals don't display this inner structure. The axoneme extends through the ciliary transition zone, but only consists of the outer doublets. The central pair, axonemal spokes, and dynein complexes are not found in this part of the ciliary shaft. Note that the connecting cilium of the photoreceptor cells is thought to be equivalent to the transition zone. bf 2011-05-25T03:09:58Z cellular_component owl:Class HP:0032971 biolink:NamedThing Computed tomographic halo sign CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm. tmpxe7fu0cj_hp_relaxed.owl CT halo sign peter owl:Class HP:0009563 biolink:NamedThing Distal/middle symphalangism of 2nd finger Fusion of the terminal/distal and middle phalanges of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Fused outermost and middle index finger bones|Symphalangism of the distal and middle phalanges of the 2nd finger UMLS:C4021440 doelkens 2009-01-28T04:16:02Z HP:0009578|HP:0009567 human_phenotype owl:Class HP:0009574 biolink:NamedThing Symphalangism of middle phalanx of 2nd finger Fusion of the middle phalanx of the 2nd finger with another bone. tmpxe7fu0cj_hp_relaxed.owl Fused middle bone of index finger UMLS:C4024284 doelkens 2009-01-28T05:10:24Z human_phenotype owl:Class HP:0500235 biolink:NamedThing Abnormal CSF histidine concentration Any deviation from the normal concentration of histidine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal histidine levels in cerebrospinal fluid 2019-02-25 21:07:30+00:00 owl:Class UBERON:0003980 biolink:NamedThing cerebellum fissure One of a set of deep furrows which divide the lobules of the cerebellum. Examples: postcentral, primary and secondary furrows. tmpxe7fu0cj_hp_relaxed.owl cerebellar sulcus|fissurae cerebelli|cerebellar fissures set|cerebellar fissures|set of cerebellar fissures|cerebellar fissure|sulcus of cerebellum|cerebellar sulci EMAPA:37818|BAMS:CBf|DHBA:12828|HBA:9406|FMA:321547 uberon owl:Class UBERON:0014466 biolink:NamedThing subarachnoid fissure tmpxe7fu0cj_hp_relaxed.owl FMA:75136 uberon owl:Class UBERON:0000088 biolink:NamedThing trophoblast The mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta. tmpxe7fu0cj_hp_relaxed.owl trophoderm|trophoblast layer|massa cellularis externa|trophoblastus MESH:A11.936|GAID:1152|NCIT:C93292|UMLS:C0041178|BTO:0001079|FMA:83029|CALOHA:TS-1070|EV:0100120 Aggregate of cells forming the outer layer of a blastocyst, which provide nutrients to the embryo and develop into a large part of the placenta. They are formed during the first stage of pregnancy and are the first cells to differentiate from the fertilized egg. [Wikipedia:Trophoblast] Blastocyst:English.svg uberon owl:Class the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta[MP] trophoblastic The postimplantation derivatives of the trophectoderm, which make up most of the fetal part of the placenta GO:0007159 biolink:NamedThing leukocyte cell-cell adhesion The attachment of a leukocyte to another cell via adhesion molecules. tmpxe7fu0cj_hp_relaxed.owl leukocyte cell adhesion|leukocyte adhesion biological_process owl:Class HP:0005059 biolink:NamedThing Arthralgia/arthritis tmpxe7fu0cj_hp_relaxed.owl Joint pain/Joint inflammation UMLS:C4025256 human_phenotype owl:Class HP:0000475 biolink:NamedThing Broad neck Increased side-to-side width of the neck. tmpxe7fu0cj_hp_relaxed.owl Broad neck|Thick neck|Wide neck|Increased width of neck UMLS:C1853638 human_phenotype owl:Class HP:0001688 biolink:NamedThing Sinus bradycardia Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. tmpxe7fu0cj_hp_relaxed.owl Fyler:7013|UMLS:C0085610|SNOMEDCT_US:49710005 HP:0005137 human_phenotype owl:Class HP:0001662 biolink:NamedThing Bradycardia A slower than normal heart rate (in adults, slower than 60 beats per minute). tmpxe7fu0cj_hp_relaxed.owl Brachycardia|Slow heartbeats SNOMEDCT_US:48867003|MSH:D001919|UMLS:C0428977 human_phenotype owl:Class HP:0100759 biolink:NamedThing Clubbing of fingers Terminal broadening of the fingers (distal phalanges of the fingers). tmpxe7fu0cj_hp_relaxed.owl Clubbing of fingers|Clubbing (hands)|Clubbed fingers|Finger clubbing UMLS:C0009080|MEDDRA:10016680|SNOMEDCT_US:30760008|MSH:D010005 doelkens 2011-06-07T10:25:26Z human_phenotype owl:Class HP:0001217 biolink:NamedThing Clubbing Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. tmpxe7fu0cj_hp_relaxed.owl Digital clubbing|Clubbing of fingers and toes UMLS:C0149651|SNOMEDCT_US:367004 Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers). HP:0005874|HP:0003036 human_phenotype owl:Class GO:2001054 biolink:NamedThing negative regulation of mesenchymal cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of mesenchymal cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of mesenchymal cell apoptosis yaf 2011-09-08T02:50:05Z biological_process owl:Class GO:0043066 biolink:NamedThing negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. tmpxe7fu0cj_hp_relaxed.owl down regulation of apoptosis|anti-apoptosis|negative regulation of apoptosis|down-regulation of apoptosis|downregulation of apoptosis|inhibition of apoptosis|apoptosis inhibitor activity|pro-survival This term should only be used when it is not possible to determine which phase or subtype of the apoptotic process is negatively regulated by a gene product. Whenever detailed information is available, the more granular children terms should be used. GO:0006916 biological_process owl:Class UBERON:0008341 biolink:NamedThing columella nasi The tissue that links the nasal tip to the nasal base, and separates the nares. It is the inferior margin of the nasal septum[EoM]. tmpxe7fu0cj_hp_relaxed.owl nasal columella|columella|columella of nose FMA:59725|EMAPA:37832 uberon owl:Class HP:0100834 biolink:NamedThing Neoplasm of the large intestine The presence of a neoplasm of the large intestine. tmpxe7fu0cj_hp_relaxed.owl Large intestine tumour|Large intestine tumor MSH:D015179|UMLS:C0009404|NCIT:C3262|SNOMEDCT_US:126837005 doelkens 2011-06-09T06:03:45Z human_phenotype owl:Class HP:0002250 biolink:NamedThing Abnormal large intestine morphology Any abnormality of the large intestine. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the large intestine UMLS:C4025715 The large intestine comprises the cecum and colon. owl:Class GO:0042255 biolink:NamedThing ribosome assembly The aggregation, arrangement and bonding together of the mature ribosome and of its subunits. tmpxe7fu0cj_hp_relaxed.owl ribosomal subunit assembly GO:0042257 biological_process owl:Class GO:0140694 biolink:NamedThing non-membrane-bounded organelle assembly The aggregation, arrangement and bonding together of a set of components to form a non-membrane-bounded organelle. tmpxe7fu0cj_hp_relaxed.owl non-membrane-enclosed organelle formation|non-membrane-enclosed organelle assembly|non-membrane-bounded organelle formation https://github.com/geneontology/go-ontology/issues/21939 pg 2021-08-09T15:30:06Z biological_process owl:Class GO:0010717 biolink:NamedThing regulation of epithelial to mesenchymal transition Any process that modulates the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0000168 biolink:NamedThing proximal-distal subdivision of colon A section dividing a colon along a proximal-distal axis. tmpxe7fu0cj_hp_relaxed.owl segment of colon FMA:222905 uberon owl:Class UBERON:0013522 biolink:NamedThing subdivision of tube tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0003836 biolink:NamedThing abdominal segment skin A skin of body that is part of an abdominal segment of trunk [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl abdominal segment of trunk skin|skin of abdominal segment of trunk FMA:264898|MA:0000530|EMAPA:37063 uberon owl:Class HP:0032573 biolink:NamedThing Elevated urinary cytidine Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033162 biolink:NamedThing Abnormal urinary pyrimidine level Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines. tmpxe7fu0cj_hp_relaxed.owl 2020-09-24 09:15:07+00:00 peter owl:Class HP:0009397 biolink:NamedThing Fragmentation of the epiphyses of the 4th finger Fragmented appearance of the epiphyses of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the ring finger bones UMLS:C4024393 doelkens 2009-01-13T01:59:12Z human_phenotype owl:Class HP:0009174 biolink:NamedThing Abnormality of the epiphyses of the 4th finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the ring finger UMLS:C4024556 doelkens 2009-01-05T04:23:43Z human_phenotype owl:Class HP:0030748 biolink:NamedThing Grade I preterm intraventricular hemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove. tmpxe7fu0cj_hp_relaxed.owl Grade I preterm intraventricular haemorrhage|Germinal matrix hemorrhage|Germinal matrix haemorrhage SNOMEDCT_US:276650005|UMLS:C0475737 owl:Class HP:0030747 biolink:NamedThing Preterm intraventricular hemorrhage Intraventricular hemorrhage that occurs in a premature infant. tmpxe7fu0cj_hp_relaxed.owl Preterm intraventricular haemorrhage UMLS:C4280789 This is a common complication seen in preterm infacnts since the cerebral blood vessels are not yet fully developed. Infants born more than 10 weeks early are at highest risk for this type of bleeding. owl:Class HP:0004798 biolink:NamedThing Recurrent infection of the gastrointestinal tract Recurrent infection of the gastrointestinal tract. tmpxe7fu0cj_hp_relaxed.owl Recurrent gastrointestinal infections|Recurrent infection of the GI tract|Recurrent infection of the gastrointestinal tract|Gastrointestinal infections|Gastrointestinal infections, recurrent UMLS:C4082764|SNOMEDCT_US:715852004|UMLS:C1854495 human_phenotype owl:Class UBERON:0035828 biolink:NamedThing right adrenal gland medulla The adrenal gland medulla that is in the right side of the abdomen. tmpxe7fu0cj_hp_relaxed.owl medulla of right adrenal gland|right adrenal medulla|medulla of right suprarenal gland FMA:69091 uberon owl:Class UBERON:0003233 biolink:NamedThing epithelium of shoulder An epithelium that is part of a shoulder [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl shoulder epithelium|shoulder epithelial tissue|epithelial tissue of shoulder EMAPA:17422|EHDAA2:0001835|EHDAA:6230|VHOG:0000761|EHDAA:4182 uberon owl:Class UBERON:0005568 biolink:NamedThing rhombomere 1 roof plate A rhombomere roof plate that is part of a rhombomere 1. tmpxe7fu0cj_hp_relaxed.owl roof plate rhombomere 1 EMAPA:16483|TAO:0001033|DMBA:16916|ZFA:0001033|EHDAA2:0001645 uberon owl:Class UBERON:0005502 biolink:NamedThing rhombomere roof plate tmpxe7fu0cj_hp_relaxed.owl roof plate rhombomeres|roof plate rhombomere|roof plate hindbrain|future hindbrain roof plate|roof plate rhombomere region EMAPA:35367|VHOG:0001018|ZFA:0001311|EMAPA:32824|TAO:0001311 uberon owl:Class UBERON:0002351 biolink:NamedThing sinoatrial node The part of the cardiac conduction system that controls the timing of heart muscle contraction. It relays electrical signals to the AV node[GO]. Subdivision of conducting system of heart at the junction of the right atrium and the superior vena cava, around the sinoatrial nodal branch of right coronary artery and is continuous with the internodal tract[FMA]. tmpxe7fu0cj_hp_relaxed.owl nodus sinuatrialis|Koch's node|SA node|sinuatrial node|sinus node|node of Keith-Flack|sinu-atrial node|sinoatrial node|sinus node of Keith and Flack|sinuatrial nodal muscle tissue|SA nodal muscle tissue|cardiac pacemaker MESH:D012849|OpenCyc:Mx4rOhejDGMcEd2AAABQjYGu0g|NCIT:C33555|EMAPA:35772|SCTID:277687007|ZFA:0005069|Wikipedia:Sinoatrial_node|GAID:561|EHDAA2:0004184|TAO:0005069|MA:0000097|UMLS:C0037189|BTO:0004358|FMA:9477 WP:Heart states: "The SA node is found in all amniotes but not in more primitive vertebrates. In these animals, the muscles of the heart are relatively continuous and the sinus venosus coordinates the beat which passes in a wave through the remaining chambers. Indeed, since the sinus venosus is incorporated into the right atrium in amniotes, it is likely homologous with the SA node. In teleosts, with their vestigial sinus venosus, the main centre of coordination is, instead, in the atrium.". Note however that ZFA has SA node. http://upload.wikimedia.org/wikipedia/commons/d/de/Sinoatrial_node_2_low_mag.jpg|http://upload.wikimedia.org/wikipedia/commons/d/d2/Sinoatrial_node_low_mag.jpg uberon owl:Class HP:0011766 biolink:NamedThing Abnormality of the parathyroid morphology A structural abnormality of the parathyroid gland. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023199 peter 2012-04-22T04:08:26Z human_phenotype owl:Class HP:0000828 biolink:NamedThing Abnormality of the parathyroid gland An abnormality of the parathyroid gland. tmpxe7fu0cj_hp_relaxed.owl Parathyroid disease SNOMEDCT_US:73132005|UMLS:C0030517|MSH:D010279|UMLS:C4025822 There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone. human_phenotype owl:Class HP:0041047 biolink:NamedThing Bladder outlet obstruction A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS). tmpxe7fu0cj_hp_relaxed.owl Obstruction of bladder outlet owl:Class UBERON:0004318 biolink:NamedThing distal phalanx of pedal digit 4 A distal phalanx that is part of a foot digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl distal phalanx of fourth toe|fourth distal phalanx of foot|distal phalanx of the 4th toe|distal phalanx of foot digit 4|distal phalanx of pedal digit IV|distal phalanx of fourth digit of foot|4th toe distal phalanx|foot digit 4 distal phalanx|distal phalanx of 4th toe FMA:32630 uberon owl:Class UBERON:0009614 biolink:NamedThing hindbrain neural plate A neural plate that develops_from a presumptive hindbrain. tmpxe7fu0cj_hp_relaxed.owl ZFA:0007022|TAO:0007022 uberon owl:Class UBERON:0003075 biolink:NamedThing neural plate A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA]. tmpxe7fu0cj_hp_relaxed.owl presumptive central nervous system|lamina neuralis BTO:0001765|FMA:293879|EHDAA:346|EMAPA:35593|XAO:0000249|AAO:0011072|UMLS:C0920623|RETIRED_EHDAA2:0001252|Wikipedia:Neural_plate|EHDAA:902|TAO:0000132|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1362|DHBA:10153|VHOG:0000068|NCIT:C34225|DMBA:15565|ZFA:0000132 Neural:Crest.png uberon owl:Class The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium. Kimmel et al, 1995.[TAO] (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...).[well established][VHOG] UBERON:0035650 biolink:NamedThing nerve of clitoris Any nerve that innervates the clitoris. tmpxe7fu0cj_hp_relaxed.owl clitoral nerve|clitoris nerve EMAPA:35044 uberon owl:Class GO:0097511 biolink:NamedThing dendritic cell dendrite A branched cellular projection (or cytoplasmic extension) that is extended from the surface of a dendritic immune cell, and which enables the cell to sample luminal pathogens and increase the surface area for antigen presentation to T cells. tmpxe7fu0cj_hp_relaxed.owl pr 2013-10-16T13:02:25Z cellular_component owl:Class GO:0120025 biolink:NamedThing plasma membrane bounded cell projection A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/13193 krc 2017-03-21T17:26:07Z cellular_component owl:Class HP:0011670 biolink:NamedThing Left superior vena cava draining to coronary sinus A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2677768|ICD-10:Q26.1 peter 2012-04-09T12:02:58Z owl:Class HP:0033379 biolink:NamedThing Bilateral superior vena cava The presence of a left and a right superior vena cava. tmpxe7fu0cj_hp_relaxed.owl Bilateral SVC 2020-12-23 14:20:56+00:00 The thoracic embryonic venous system is composed of two large veins (the superior cardinal veins) which return blood from cranial aspect of embryo, and the inferior cardinal vein, which returns blood from the caudal aspect. Both pairs of veins join to form right and left common cardinal veins before entering the embryological heart. The left common cardinal vein persists to form coronary sinus and oblique vein of left atrium. During the 8th week of gestation, an anastomosis forms between right and left superior cardinal veins resulting in the innominate (or brachiocephalic) vein. The cephalic portion of superior cardinal veins form the internal jugular veins. The caudal portion of right superior vein forms the normal right-sided superior vena cava, while the portion of the left superior cardinal vein caudal to the innominate vein normally regresses to become the ligament of Marshall. If this normal regression of the left superior cardinal vein fails to occur, a persistent left-sided vascular structure that empties into the coronary sinus, results (Persistent left superior vena cava or PLSVC). The innominate vein may or may not degenerate in these cases leading to variations in anatomy. The most common subtype of PLSVC results in the presence of both left and right SVCs (Bilateral SVC). A bridging innominate vein may or may not be present. peter owl:Class HP:0033636 biolink:NamedThing Combined pre- and post-capillary pulmonary hypertension Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). tmpxe7fu0cj_hp_relaxed.owl 2021-02-01 14:58:09+00:00 peter owl:Class HP:0004890 biolink:NamedThing Elevated pulmonary artery pressure An abnormally elevated blood pressure in the circulation of the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl Elevated lung artery pressure|increased pulmonary artery pressure UMLS:C3805917 HP:0004958 owl:Class HP:0010044 biolink:NamedThing Short 4th metacarpal Short fourth metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic fourth metacarpal|Short fourth metacarpals|Short 4th metacarpals|Shortened 4th long bone of hand UMLS:C1840309 doelkens 2009-05-27T04:37:00Z HP:0005094 human_phenotype owl:Class HP:0010042 biolink:NamedThing Aplasia/Hypoplasia of the 4th metacarpal Aplasia or Hypoplasia affecting the 4th metacarpal. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped 4th long bone of hand|Absent/small 4th long bone of hand UMLS:C4024087 doelkens 2009-05-27T04:36:49Z human_phenotype owl:Class GO:0085029 biolink:NamedThing extracellular matrix assembly The aggregation, arrangement and bonding together of the extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl jl 2010-07-14T12:52:49Z biological_process owl:Class HP:0009678 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the thumb Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Large terminal thumb phalanx epiphysis|Enlarged end part of thumb outermost long bone UMLS:C4021408 doelkens 2009-01-30T09:18:09Z HP:0004092 human_phenotype owl:Class HP:0009689 biolink:NamedThing Enlarged thumb epiphysis Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged epiphyses of the thumb|Enlarged end part of thumb long bone UMLS:C4021406 doelkens 2009-01-30T09:20:16Z human_phenotype owl:Class GO:0061552 biolink:NamedThing ganglion morphogenesis The process in which the anatomical structures of ganglion are generated and organized. tmpxe7fu0cj_hp_relaxed.owl ganglia morphogenesis dph 2013-07-10T08:44:57Z biological_process owl:Class UBERON:0010572 biolink:NamedThing manual digit 3 metacarpus cartilage element A manual digit metacarpus cartilage element that is part of a manual digit 3 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl fore limb digit 3 metacarpus cartilage element|metacarpus 3 cartilage element|manual digit III metacarpus cartilage element|hand digit 3 metacarpus cartilage element|finger 3 metacarpus cartilage element EHDAA2:0000526|EMAPA:18075 uberon owl:Class HP:0003043 biolink:NamedThing Abnormal shoulder morphology An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the shoulder UMLS:C4025659 owl:Class HP:0100421 biolink:NamedThing Partial duplication of the middle phalanx of the 5th toe Partial duplication of the middle phalanx of the 5th toe. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the middle bone of the pinkie toe|Partial duplication of the middle bone of the little toe|Partial duplication of the middle phalanx of the fifth toe|Partial duplication of the middle bone of the pinky toe UMLS:C4020978 human_phenotype owl:Class CHEBI:26373 biolink:NamedThing pteridines tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:38101 biolink:NamedThing organonitrogen heterocyclic compound Any organonitrogen compound containing a cyclic component with nitrogen and at least one other element as ring member atoms. tmpxe7fu0cj_hp_relaxed.owl organonitrogen heterocyclic compounds|heterocyclic organonitrogen compounds chebi_ontology owl:Class GO:0098883 biolink:NamedThing synapse pruning A cellular process that results in the controlled breakdown of synapse. After it starts the process is continuous until the synapse has disappeared. tmpxe7fu0cj_hp_relaxed.owl synapse removal|synapse elimination|synapse clearance|synapse disassembly biological_process owl:Class PATO:0010001 biolink:NamedThing disconnected tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0004855 biolink:NamedThing Reduced protein S activity An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C. tmpxe7fu0cj_hp_relaxed.owl Protein S deficiency SNOMEDCT_US:1563006|MSH:D018455|UMLS:C4025284|UMLS:C0242666 Protein S functions as a cofactor to Protein C in the inactivation of Factors Va and VIIIa in the coagulation pathway. Therefore, a defect in protein S is associated with an increased risk of thrombosis. human_phenotype owl:Class HP:0030780 biolink:NamedThing Abnormality of the protein C anticoagulant pathway An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280774 owl:Class UBERON:0001555 biolink:NamedThing digestive tract A tube extending from the mouth to the anus. tmpxe7fu0cj_hp_relaxed.owl digestive canal|gut|alimentary canal|digestive tube|gut tube|enteric tract|alimentary tract TAO:0000112|galen:AlimentaryTract|TGMA:0001819|BTO:0000545|MA:0000917|OpenCyc:Mx4rvVi0GpwpEbGdrcN5Y29ycA|VHOG:0000309|ZFA:0000112|FBbt:00003125|EHDAA2:0000726|WBbt:0005743|UMLS:C0017189|NCIT:C34082|FMA:45615|AAO:0010023|BILA:0000083|EHDAA:518|EMAPA:16247|BTO:0000511 uberon owl:Class The alimentary or digestive tract, and associated organs.[TAO] The bilaterian gut is typically a complete tube that opens to the exterior at both ends. It consists of mouth, foregut, midgut, hindgut, and anus (reference 1); Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut (reference 2).[well established][VHOG] we place the MA and EMAPA class here, although the intent is probably a smaller region. See https://github.com/obophenotype/uberon/issues/509|FMA also has a term 'gastrointestinal tract', but this includes the liver. we following Kardong in naming the entire tube from mouth to anus the alimentary canal. Kardong calls the portion of this tract that excludes buccal cavity and pharynx the 'alimentary canal', consider adding an extra class for this HP:0009138 biolink:NamedThing Synostosis involving bones of the lower limbs An abnormal union between bones or parts of bones lower limbs. tmpxe7fu0cj_hp_relaxed.owl Fusion involving the bones of the lower limbs UMLS:C4024577 peter 2008-04-17T02:51:00Z human_phenotype owl:Class HP:0100491 biolink:NamedThing Abnormality of lower limb joint tmpxe7fu0cj_hp_relaxed.owl Abnormality of the joints of the lower limbs|Abnormality of lower limb joint UMLS:C4020971 doelkens 2010-12-14T10:58:11Z HP:0100239 human_phenotype owl:Class UBERON:0007827 biolink:NamedThing external nose External part of the nose containing the external nares. tmpxe7fu0cj_hp_relaxed.owl nose EMAPA:37831|UMLS:C0458561|NCIT:C32566|FMA:59515 uberon owl:Class Subdivision of face, the exterior of the nose, which consists of a root, dorsum, tip, columella, and right and left alae[FMA:59515]. HP:0410158 biolink:NamedThing Increased urine O-phosphoethanolamine level An increase in the level of O-phosphoethanolamine in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased level of O-phosphoethanolamine in urine 2018-03-28 19:43:27+00:00 owl:Class HP:0003239 biolink:NamedThing Phosphoethanolaminuria An increased concentration of phosphoethanolamine in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine phosphoethanolamine levels UMLS:C0268412|SNOMEDCT_US:55236002|MSH:C562646 owl:Class HP:0011592 biolink:NamedThing Left aortic arch with isolated subclavian artery The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023280 peter 2012-04-08T02:01:39Z human_phenotype owl:Class GO:0032990 biolink:NamedThing cell part morphogenesis The process in which the anatomical structures of a cell part are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1903011 biolink:NamedThing negative regulation of bone development Any process that stops, prevents or reduces the frequency, rate or extent of bone development. tmpxe7fu0cj_hp_relaxed.owl down-regulation of bone development|down regulation of bone development|inhibition of bone development|downregulation of bone development mr 2014-05-13T22:42:00Z biological_process owl:Class HP:0020118 biolink:NamedThing Radial artery aplasia Congenital absence of the radial artery. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-02 16:30:41+00:00 owl:Class UBERON:0010748 biolink:NamedThing lymph node follicle A lymphoid follicle that is part of a lymph node. tmpxe7fu0cj_hp_relaxed.owl follicle of lymph node MA:0000742|EMAPA:35527 uberon owl:Class UBERON:0000444 biolink:NamedThing lymphoid follicle tmpxe7fu0cj_hp_relaxed.owl folliculus lymphaticus|nodular lymphoid tissue|nodulus lymphaticus|lymphatic nodule|nodulus lymphoideus|lymphatic follicle|lymphoid nodule FMA:55222|BTO:0002684|UMLS:C0229654|NCIT:C33040 introducing part_of to 'cortex of lymph node' as in issue 7 introduces equivalencies; the part_of has instead been added to 'lymph node follicle' uberon owl:Class UBERON:0003475 biolink:NamedThing ureteric vein A vein that is part of a ureter [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl vein of ureter|ureter vein EMAPA:37679|MA:0002250 uberon owl:Class UBERON:0010020 biolink:NamedThing tubotympanic recess epithelium The dorsal portion of the embryonic first endodermal pharyngeal pouch; it develops into the middle ear cavity. tmpxe7fu0cj_hp_relaxed.owl tubotympanic recess FMA:312393|NCIT:C34318|EMAPA:17002|UMLS:C1284046|EHDAA2:0004115|MA:0001218|EHDAA:6772|VHOG:0001297 uberon owl:Class The tympanic cavity and auditory tube of an amniote develop from the first embryonic pharyngeal pouch, so they are homologous to the first gill pouch, or spiracle, of a fish. We are uncertain whether this homology strictly applies to the middle ear cavity and auditory tube of lissamphibians, which show certain peculiarities in their development.[well established][VHOG] UBERON:0010574 biolink:NamedThing manual digit 5 metacarpus cartilage element A manual digit metacarpus cartilage element that is part of a manual digit 5 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl metacarpus 5 cartilage element|fore limb digit 5 metacarpus cartilage element|finger 5 metacarpus cartilage condensation|hand digit 5 metacarpus cartilage element|manual digit V metacarpus cartilage element EMAPA:18085|EHDAA2:0000538 uberon owl:Class UBERON:0008836 biolink:NamedThing liver bud tmpxe7fu0cj_hp_relaxed.owl BTO:0001642 uberon owl:Class HP:0005606 biolink:NamedThing Hyperpigmented nevi and streak tmpxe7fu0cj_hp_relaxed.owl UMLS:C3805692 human_phenotype owl:Class HP:0000995 biolink:NamedThing Melanocytic nevus A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. tmpxe7fu0cj_hp_relaxed.owl Pigmented naevi|Melanocytic naevus|Pigmented nevi|Melanocytic nevi|Noncancerous mole|Nevocellular nevi|Beauty mark MSH:D009508|UMLS:C0027962|SNOMEDCT_US:400096001|SNOMEDCT_US:21119008|UMLS:C4280269 Melanocytic nevi are commonly known as moles. The majority of moles appear during the first 20 to 30 years of a person's life, however, some may be present when the baby is born. The average human has from 10 to 14 moles. Moles can develop on the scalp, under the nails, armpits, virtually anywhere on the body. The total number of moles a person can have usually varies during his or her lifetime. human_phenotype owl:Class GO:1905938 biolink:NamedThing positive regulation of germ cell proliferation Any process that activates or increases the frequency, rate or extent of germ cell proliferation. tmpxe7fu0cj_hp_relaxed.owl up regulation of germ cell proliferation|activation of germ cell proliferation|upregulation of germ cell proliferation|up-regulation of germ cell proliferation hbye 2017-02-09T14:51:51Z biological_process owl:Class UBERON:0011679 biolink:NamedThing proximal tarsal bone A tarsal bone that connected_to a hindlimb zeugopod skeleton. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:7500033 biolink:NamedThing distal-most point of medial condyle of femur The distal-most point of the medial condyle of a femur. tmpxe7fu0cj_hp_relaxed.owl https://orcid.org/0000-0003-2699-3066 uberon owl:Class HP:0012366 biolink:NamedThing Basilar invagination Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama). tmpxe7fu0cj_hp_relaxed.owl UMLS:C3887851 peter 2013-10-13T12:18:53Z owl:Class HP:0000932 biolink:NamedThing Abnormal posterior cranial fossa morphology An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the posterior fossa|Abnormality of the posterior cranial fossa|Posterior fossa anomaly UMLS:C3280768 The floor of the cranial cavity is divided into three distinct depressions called the anterior, middle, and posterior cranial fossa. The posterior cranial fossa, the most posterior and deep of the three cranial fossae, accommodates the brainstem and cerebellum. Abnormalities of the posterier cranial fossa can be demonstrated by cerebral magnetic resonance imaging or computer tomography. HP:0007306 owl:Class HP:0032958 biolink:NamedThing Urinary oval fat bodies The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0000011 biolink:NamedThing Neurogenic bladder A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. tmpxe7fu0cj_hp_relaxed.owl Lack of bladder control due to nervous system injury UMLS:C0005697|SNOMEDCT_US:397732007|MSH:D001750|SNOMEDCT_US:398064005 Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause. human_phenotype owl:Class GO:0002085 biolink:NamedThing inhibition of neuroepithelial cell differentiation Any process that prevents the activation of neuroepithelial cell differentiation. Neuroepithelial cell differentiation is the process in which epiblast cells acquire specialized features of neuroepithelial cells. tmpxe7fu0cj_hp_relaxed.owl repression of premature neural plate formation|negative regulation of neural plate formation biological_process owl:Class HP:0030904 biolink:NamedThing Glabellar reflex A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign. tmpxe7fu0cj_hp_relaxed.owl Myerson's sign owl:Class HP:0002476 biolink:NamedThing Primitive reflex The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. tmpxe7fu0cj_hp_relaxed.owl Primitive reflexes|Archaic reflex UMLS:C1838319 human_phenotype owl:Class GO:0090303 biolink:NamedThing positive regulation of wound healing Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. tmpxe7fu0cj_hp_relaxed.owl tb 2010-03-22T02:12:03Z biological_process owl:Class HP:0008132 biolink:NamedThing Medial rotation of the medial malleolus tmpxe7fu0cj_hp_relaxed.owl UMLS:C3805726 human_phenotype owl:Class CHEBI:18089 biolink:NamedThing N-benzoylglycine An N-acylglycine in which the acyl group is specified as benzoyl. tmpxe7fu0cj_hp_relaxed.owl Hippurate|N-Benzoylglycine|N-benzoylglycine|Hippuric acid|Benzoylaminoessigsaeure|Benzoylaminoacetic acid|Phenylcarbonylaminoacetic acid|Hippursaeure|Benzamidoacetic acid|Benzamidoessigsaeure 0 C9H9NO3 InChI=1S/C9H9NO3/c11-8(12)6-10-9(13)7-4-2-1-3-5-7/h1-5H,6H2,(H,10,13)(H,11,12) QIAFMBKCNZACKA-UHFFFAOYSA-N 179.17270 179.05824 OC(=O)CNC(=O)c1ccccc1 PMID:16760132|PMID:9120876|PMID:8734460|PMID:17190852|Wikipedia:Hippuric_acid|PMID:19891605|KEGG:C01586|PMID:9609721|PMID:14646363|Reaxys:1073987|CAS:495-69-2|PMID:7153346|HMDB:HMDB0000714|KNApSAcK:C00030483|PMID:15879000|PMID:22770225|PMID:20405919|PMID:19283696|MetaCyc:CPD-425 CHEBI:14400|CHEBI:24595|CHEBI:12492|CHEBI:5725 chebi_ontology owl:Class HP:0100417 biolink:NamedThing Partial duplication of the distal phalanx of the 4th toe Partial duplication of the distal phalanx of fourth toe. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the outermost bone of the fourth toe|Partial duplication of the distal phalanx of the fourth toe UMLS:C4020982 human_phenotype owl:Class HP:0100399 biolink:NamedThing Duplication of the distal phalanx of the 4th toe Partial or complete duplication of the distal phalanx of fourth toe. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the distal phalanx of the 4th toe|Duplication of the outermost bone of the 4th toe|Duplication of the distal phalanx of the fourth toe UMLS:C4020998 human_phenotype owl:Class GO:0002292 biolink:NamedThing T cell differentiation involved in immune response The process in which an antigenically naive T cell acquires the specialized features of an effector, regulatory, or memory T cell as part of an immune response. Effector T cells include cells which provide T cell help or exhibit cytotoxicity towards other cells. tmpxe7fu0cj_hp_relaxed.owl T lymphocyte differentiation during immune response|T-cell differentiation during immune response|T cell development involved in immune response|T cell differentiation during immune response|T-lymphocyte differentiation during immune response Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. biological_process owl:Class HP:0001281 biolink:NamedThing Tetany A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. tmpxe7fu0cj_hp_relaxed.owl Intermittent involuntary muscle spasm SNOMEDCT_US:10629009|UMLS:C0039621|MSH:D013746 human_phenotype owl:Class HP:0007937 biolink:NamedThing Reticular pigmentary degeneration A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus. tmpxe7fu0cj_hp_relaxed.owl Fishnet retinal pigmentation|Honeycomb retinal degeneration UMLS:C4024769 human_phenotype owl:Class UBERON:0012359 biolink:NamedThing pedal digitopodium bone A bone that is part of a the pedal digitopodium skeleton - i.e. the toes or the metatarsal skeleton. tmpxe7fu0cj_hp_relaxed.owl bone of hindlimb digitopodium uberon owl:Class UBERON:0002464 biolink:NamedThing nerve trunk tmpxe7fu0cj_hp_relaxed.owl trunk of nerve|trunk of peripheral nerve|peripheral nerve trunk EMAPA:16986|MA:0002408|EHDAA:4675|FMA:5913|BTO:0000927|FMA:14383|MA:0000229 UBERON:0001147 uberon owl:Class Segment of neural tree organ which consists of nerve fiber bundles aggregated to form a cable-like structure that branches off to different nerves; together with all nerves of the same tree. Example: trunk of cranial nerve, trunk of spinal nerve, trunk of peripheral nerve[FMA:5913]. CHEBI:32627 biolink:NamedThing leucinate An alpha-amino-acid anion that is the conjugate base of leucine, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl leucinate|2-amino-4-methylpentanoate|leucine anion|leu(-) -1 C6H12NO2 InChI=1S/C6H13NO2/c1-4(2)3-5(7)6(8)9/h4-5H,3,7H2,1-2H3,(H,8,9)/p-1 ROHFNLRQFUQHCH-UHFFFAOYSA-M 130.16502 130.08735 CC(C)CC(N)C([O-])=O Reaxys:5245805 chebi_ontology owl:Class CHEBI:63471 biolink:NamedThing branched-chain amino-acid anion A branched-chain amino acid whose alpha-carboxylic acid group is ionized (not protonated). tmpxe7fu0cj_hp_relaxed.owl branched-chain amino-acid anions chebi_ontology owl:Class GO:0042423 biolink:NamedThing catecholamine biosynthetic process The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpxe7fu0cj_hp_relaxed.owl catecholamine anabolism|catecholamine formation|catecholamine biosynthesis|catecholamine synthesis Wikipedia:Catecholamines biological_process owl:Class HP:0009465 biolink:NamedThing Ulnar deviation of finger Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. tmpxe7fu0cj_hp_relaxed.owl Ulnar Drift|Finger bends toward pinky SNOMEDCT_US:367510009|SNOMEDCT_US:276662009|UMLS:C0231679 doelkens 2009-01-15T09:39:43Z HP:0001200|HP:0004096 human_phenotype owl:Class HP:0001193 biolink:NamedThing Ulnar deviation of the hand or of fingers of the hand tmpxe7fu0cj_hp_relaxed.owl UMLS:C4048199 human_phenotype owl:Class HP:0025655 biolink:NamedThing Placenta increta Abnormal placental pentration into but not beyond the uterine wall. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0025652 biolink:NamedThing Abnormal placental adhesion into the uterine wall Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta. tmpxe7fu0cj_hp_relaxed.owl probinson owl:Class HP:0010151 biolink:NamedThing Cone-shaped epiphysis of the 1st metatarsal A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the 1st long bone of foot UMLS:C4024008 doelkens 2009-05-29T01:24:17Z human_phenotype owl:Class CL:0000018 biolink:NamedThing spermatid A male germ cell that develops from the haploid secondary spermatocytes. Without further division, spermatids undergo structural changes and give rise to spermatozoa. tmpxe7fu0cj_hp_relaxed.owl nematoblast WBbt:0006800|FBbt:00004942|BTO:0001274|FMA:72294|CALOHA:TS-0950|EMAPA:31486 cell owl:Class CL:0000413 biolink:NamedThing haploid cell A cell whose nucleus contains a single haploid genome. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0045087 biolink:NamedThing Hip joint hypermobility tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0003982 biolink:NamedThing Aplasia of the ulna Missing ulna bone associated with congenital failure of development. tmpxe7fu0cj_hp_relaxed.owl Absent ulnae|Absent ulna|Absent ossification/absent ulna UMLS:C2678397 human_phenotype owl:Class HP:0003953 biolink:NamedThing Absent forearm bone Absence of one or more forearm bones associated with congenital failure of development. tmpxe7fu0cj_hp_relaxed.owl Absent forearm bone|Aplasia of the forearm bones UMLS:C4021701 human_phenotype owl:Class HP:0100881 biolink:NamedThing Congenital mesoblastic nephroma Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. tmpxe7fu0cj_hp_relaxed.owl MSH:D018201|UMLS:C1332965 Congenital mesoblastic nephroma is more common in males. doelkens 2011-12-01T02:44:52Z human_phenotype owl:Class HP:0012529 biolink:NamedThing Abnormal dense granule content A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021839 peter 2013-12-15T09:12:44Z human_phenotype owl:Class HP:0012484 biolink:NamedThing Abnormal dense granules Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022885 This feature can be observed by electron microscopy. peter 2013-11-29T07:48:08Z human_phenotype owl:Class UBERON:0005225 biolink:NamedThing upper leg epithelium An epithelium that is part of a hindlimb stylopod [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl VHOG:0001041|EMAPA:17500|EHDAA2:0002131 uberon owl:Class GO:0048880 biolink:NamedThing sensory system development The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0001781 biolink:NamedThing neutrophil apoptotic process Any apoptotic process in a neutrophil, any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. tmpxe7fu0cj_hp_relaxed.owl neutrophil apoptosis|neutrophil programmed cell death by apoptosis|programmed cell death, neutrophils|programmed cell death of neutrophils by apoptosis|apoptosis of neutrophils biological_process owl:Class GO:0006925 biolink:NamedThing inflammatory cell apoptotic process Any apoptotic process in an inflammatory cell, any cell participating in the inflammatory response to a foreign substance e.g. neutrophil, macrophage. tmpxe7fu0cj_hp_relaxed.owl apoptosis of inflammatory cells|inflammatory cell apoptosis|inflammatory cell programmed cell death by apoptosis|programmed cell death, inflammatory cells|killing of inflammatory cells|programmed cell death of inflammatory cells by apoptosis biological_process owl:Class HP:0011597 biolink:NamedThing Right aortic arch with left descending aorta and left ductus arteriosus tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023276 peter 2012-04-08T02:23:47Z human_phenotype owl:Class HP:0000615 biolink:NamedThing Abnormal pupil morphology An abnormality of the pupil. tmpxe7fu0cj_hp_relaxed.owl Abnormal pupillary morphology|Pupillary abnormalities|Abnormality of the pupil|Pupillary abnormality UMLS:C0154936|SNOMEDCT_US:274093008 HP:0008018|HP:0030960 human_phenotype owl:Class GO:1902839 biolink:NamedThing negative regulation of nuclear migration along microtubule Any process that stops, prevents or reduces the frequency, rate or extent of nuclear migration along microtubule. tmpxe7fu0cj_hp_relaxed.owl negative regulation of microtubule cytoskeleton-dependent nuclear positioning|inhibition of microtubule-dependent nucleus positioning|down regulation of microtubule-mediated nuclear migration|negative regulation of transport of nucleus by microtubules|inhibition of microtubule-mediated nuclear migration|down-regulation of transport of nucleus, microtubule-mediated|down-regulation of microtubule-dependent nuclear positioning|negative regulation of transport of nucleus, microtubule-mediated|down regulation of microtubule-dependent nucleus positioning|down regulation of microtubule cytoskeleton-dependent nuclear positioning|down regulation of transport of nucleus, microtubule-mediated|down regulation of nuclear migration along microtubule|down-regulation of microtubule-dependent nucleus positioning|negative regulation of nuclear migration, microtubule-mediated|downregulation of microtubule-dependent nucleus positioning|inhibition of microtubule-dependent nuclear positioning|downregulation of microtubule-dependent nuclear positioning|inhibition of nuclear migration along microtubule|downregulation of nuclear migration along microtubule|down regulation of transport of nucleus by microtubules|inhibition of transport of nucleus by microtubules|down regulation of nuclear migration, microtubule-mediated|inhibition of nuclear migration, microtubule-mediated|downregulation of microtubule cytoskeleton-dependent nuclear positioning|downregulation of transport of nucleus by microtubules|negative regulation of microtubule-mediated nuclear migration|down-regulation of nuclear migration along microtubule|negative regulation of microtubule-dependent nuclear positioning|down-regulation of microtubule-mediated nuclear migration|down-regulation of transport of nucleus by microtubules|negative regulation of microtubule-dependent nucleus positioning|down-regulation of microtubule cytoskeleton-dependent nuclear positioning|down regulation of microtubule-dependent nuclear positioning|negative regulation of microtubule cytoskeleton-dependent nucleus positioning|inhibition of transport of nucleus, microtubule-mediated|downregulation of microtubule-mediated nuclear migration|down-regulation of nuclear migration, microtubule-mediated|down-regulation of microtubule cytoskeleton-dependent nucleus positioning|downregulation of nuclear migration, microtubule-mediated|down regulation of microtubule cytoskeleton-dependent nucleus positioning|downregulation of microtubule cytoskeleton-dependent nucleus positioning|inhibition of microtubule cytoskeleton-dependent nuclear positioning|inhibition of microtubule cytoskeleton-dependent nucleus positioning|downregulation of transport of nucleus, microtubule-mediated vw 2014-04-01T13:50:29Z biological_process owl:Class UBERON:0013587 biolink:NamedThing fused metacarpal bones 3 and 4 An element formed from the fusion of metacarpal 3 and metacarpal 4. tmpxe7fu0cj_hp_relaxed.owl os metacarpale III et IV|fused metacarpal 3/4|metacarpal 3+4 uberon owl:Class In many artiodactyls, the 3rd & 4th metapodials are fused, creating a main metapodial. UBERON:0013586 biolink:NamedThing fused metapodial bones 3 and 4 An element formed from the fusion of metapodium 3 and metapodium 4 (i.e. either metatarsals 3 and 4 or metacarpals 3 and 4). tmpxe7fu0cj_hp_relaxed.owl metapodial 3+4|os metapodiale III et IV|fused metapodials 3/4 this class can be used in annotation when it is unclear whether the element is a fusion of the metacarpal and metatarsal elements. uberon owl:Class HP:0005424 biolink:NamedThing Absent specific antibody response Absence of specific immunoglobulins directed against a specific antigen or microorganism. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1863246 human_phenotype owl:Class HP:0012475 biolink:NamedThing Decreased circulating level of specific antibody The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism. tmpxe7fu0cj_hp_relaxed.owl Decreased specific antibody in blood|Abnormal specific antibody response|Specific antibody deficiency UMLS:C0398711|SNOMEDCT_US:234556002 peter 2013-11-27T10:21:15Z owl:Class HP:0030135 biolink:NamedThing Absence of intermediate von Willibrand factor multimers Lack of intermediate von Willebrand Factor multimers on gel electrophoresis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022613 Type 2A von Willibrand disease is characterized by the absence of large and intermediate von Willebrand Factor multimers on gel electrophoresis, with preservation of an otherwise normal multimer pattern. owl:Class GO:0031497 biolink:NamedThing chromatin assembly The assembly of DNA, histone proteins, other associated proteins, and sometimes RNA, into chromatin structure, beginning with the formation of the basic unit, the nucleosome, followed by organization of the nucleosomes into higher order structures, ultimately giving rise to a complex organization of specific domains within the nucleus. tmpxe7fu0cj_hp_relaxed.owl establishment of chromatin architecture|chromatin maintenance biological_process owl:Class GO:1901692 biolink:NamedThing regulation of compound eye retinal cell apoptotic process Any process that modulates the frequency, rate or extent of compound eye retinal cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl pr 2012-12-12T10:28:35Z biological_process owl:Class CHEBI:27311 biolink:NamedThing volatile oil component Any plant metabolite that is found naturally as a component of a volatile oil. tmpxe7fu0cj_hp_relaxed.owl ethereal oil components|essential oil components|ethereal oil component|essential oil component|volatile oil components Wikipedia:Essential_oil chebi_ontology owl:Class CHEBI:16247 biolink:NamedThing phospholipid A lipid containing phosphoric acid as a mono- or di-ester. The term encompasses phosphatidic acids and phosphoglycerides. tmpxe7fu0cj_hp_relaxed.owl Phospholipid|phospholipids|a phospholipid derivative KEGG:C00865 CHEBI:26063|CHEBI:14816|CHEBI:8150 chebi_ontology owl:Class CHEBI:18059 biolink:NamedThing lipid 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. tmpxe7fu0cj_hp_relaxed.owl Lipid|lipids KEGG:C01356 CHEBI:14517|CHEBI:6486|CHEBI:25054 chebi_ontology owl:Class HP:0005602 biolink:NamedThing Progressive vitiligo tmpxe7fu0cj_hp_relaxed.owl UMLS:C3806428 human_phenotype owl:Class HP:0001045 biolink:NamedThing Vitiligo tmpxe7fu0cj_hp_relaxed.owl Blotchy loss of skin color|Blotchy loss of skin colour SNOMEDCT_US:56727007|UMLS:C0042900|MSH:D014820 human_phenotype owl:Class UBERON:0003260 biolink:NamedThing endoderm of hindgut An endoderm that is part of a hindgut [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hindgut endoderm EHDAA:979|RETIRED_EHDAA2:0000781 TODO - check uberon owl:Class HP:0034045 biolink:NamedThing Angulated muscle fibers Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip. tmpxe7fu0cj_hp_relaxed.owl Angular muscle fibers 2021-10-19 16:38:38+00:00 Muscle fibers showing neurogenic atrophy are compressed by neighboring non-atrophic fibers and may show an angulated appearance on a transverse section. See Figure 3A in PMID:32529201. peter owl:Class HP:0100135 biolink:NamedThing Absent epiphysis of the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the outermost bone of the 3rd toe UMLS:C4022286 doelkens 2010-06-24T10:23:44Z human_phenotype owl:Class HP:0010194 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Absent/small middle bones of toe|Absent/underdeveloped middle bones of toe UMLS:C4023976 doelkens 2009-05-29T01:53:35Z human_phenotype owl:Class GO:0030224 biolink:NamedThing monocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. tmpxe7fu0cj_hp_relaxed.owl monocyte cell differentiation biological_process owl:Class HP:0033283 biolink:NamedThing Segmentally thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 20:34:43+00:00 peter owl:Class HP:0033285 biolink:NamedThing Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 20:39:15+00:00 peter owl:Class HP:0010239 biolink:NamedThing Aplasia of the middle phalanx of the hand Absence of one or more middle phalanx of a finger. tmpxe7fu0cj_hp_relaxed.owl Absent middle phalanges|Missing middle phalanges|Absent middle bones of hand UMLS:C1862096 doelkens 2009-07-06T03:59:39Z HP:0005778 human_phenotype owl:Class HP:0009802 biolink:NamedThing Aplasia of the phalanges of the hand Absence of one or more of the phalanges of the hand. tmpxe7fu0cj_hp_relaxed.owl Absent finger bone of the hand UMLS:C4024203|UMLS:C4280393 doelkens 2009-02-12T05:56:07Z human_phenotype owl:Class UBERON:0016944 biolink:NamedThing upper premolar tooth tmpxe7fu0cj_hp_relaxed.owl UP|upper premolar tooth|maxillary premolar tooth UBERON:4200144 uberon owl:Class HP:0004484 biolink:NamedThing Craniofacial asymmetry Asymmetry of the bones of the skull and the face. tmpxe7fu0cj_hp_relaxed.owl Uneven craniofacial structures|Malformation of craniofacial shape|Abnormality of craniofacial shape UMLS:C4025320 human_phenotype owl:Class HP:0000267 biolink:NamedThing Cranial asymmetry Asymmetry of the bones of the skull. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cranium shape|Malformation of cranium shape|Abnormality of cranial vault shape|Abnormality of head shape|Cranial vault asymmetry|Asymmetry of cranium|Malformation of head shape|Malformation of cranial vault shape|Uneven head shape|Asymmetry of head UMLS:C4280660|UMLS:C4280657|UMLS:C4280658|UMLS:C1860245|UMLS:C4280258|UMLS:C4280661|UMLS:C4280662|UMLS:C4280659 human_phenotype owl:Class UBERON:0001253 biolink:NamedThing lamina propria of ureter A lamina propria that is part of a ureter [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lamina propria mucosa of ureter|lamina propria mucosae of ureter|ureter lamina propria|ureter lamina propria mucosa|ureter lamina propria mucosae FMA:15896|EMAPA:28841|MA:0002653 uberon owl:Class GO:0140131 biolink:NamedThing positive regulation of lymphocyte chemotaxis Any process that activates or increases the frequency, rate or extent of lymphocyte chemotaxis. tmpxe7fu0cj_hp_relaxed.owl pg 2017-11-02T10:26:40Z biological_process owl:Class GO:2000403 biolink:NamedThing positive regulation of lymphocyte migration Any process that activates or increases the frequency, rate or extent of lymphocyte migration. tmpxe7fu0cj_hp_relaxed.owl mah 2011-02-23T10:46:06Z biological_process owl:Class GO:0051059 biolink:NamedThing NF-kappaB binding Binding to NF-kappaB, a transcription factor for eukaryotic RNA polymerase II promoters. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class GO:0061629 biolink:NamedThing RNA polymerase II-specific DNA-binding transcription factor binding Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. tmpxe7fu0cj_hp_relaxed.owl RNA polymerase II sequence-specific DNA binding transcription factor binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription factor binding|RNA polymerase II sequence-specific DNA-binding transcription factor binding|RNA polymerase II repressing transcription factor binding https://github.com/geneontology/go-ontology/issues/19354 dph 2014-05-15T09:12:24Z GO:0001085|GO:0001103|GO:0001102 molecular_function owl:Class HP:0033353 biolink:NamedThing Abnormal blood vessel morphology Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). tmpxe7fu0cj_hp_relaxed.owl 2020-12-01 11:42:14+00:00 peter owl:Class GO:0042322 biolink:NamedThing negative regulation of circadian sleep/wake cycle, REM sleep Any process that stops, prevents or reduces the duration or quality of rapid eye movement (REM) sleep. tmpxe7fu0cj_hp_relaxed.owl down-regulation of circadian sleep/wake cycle, REM sleep|negative regulation of REM sleep|inhibition of circadian sleep/wake cycle, REM sleep|down regulation of circadian sleep/wake cycle, REM sleep|downregulation of circadian sleep/wake cycle, REM sleep biological_process owl:Class HP:0025578 biolink:NamedThing Aortic valve prolapse Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus. tmpxe7fu0cj_hp_relaxed.owl 2017-12-15 23:47:17+00:00 Fyler:1452 HPO:probinson owl:Class HP:0032430 biolink:NamedThing Increased HDL3b concentration An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:51:08+00:00 peter owl:Class HP:0032426 biolink:NamedThing Abnormal HDL3b concentration Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:49:05+00:00 peter owl:Class UBERON:0003473 biolink:NamedThing thoracic cavity artery An artery that is part of a thoracic cavity[cjm]. tmpxe7fu0cj_hp_relaxed.owl thoracic artery EMAPA:37241|MESH:D013895|MA:0001902 uberon owl:Class in MA, aorta is classified here - but this is problematic because the abdominal aorta is not in the thoracic cavity HP:0005946 biolink:NamedThing Ventilator dependence with inability to wean tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025097 human_phenotype owl:Class HP:0004887 biolink:NamedThing Respiratory failure requiring assisted ventilation A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. tmpxe7fu0cj_hp_relaxed.owl Respiratory distress requiring endotracheal intubation|Respiratory distress requiring mechanical ventilation|Respiratory distress necessitating mechanical ventilation UMLS:C4025279 HP:0004883 owl:Class HP:0006509 biolink:NamedThing Diverticulosis of trachea Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical). tmpxe7fu0cj_hp_relaxed.owl Tracheocele|Tracheal diverticulosis|Paratracheal air cyst|Tracheal diverticulum SNOMEDCT_US:14011008|UMLS:C0340213 owl:Class UBERON:0009193 biolink:NamedThing sphenoid cartilage element A sphenoid endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl sphenoid bone cartilage condensation EHDAA2:0001888 uberon owl:Class UBERON:0014463 biolink:NamedThing cardiac ganglion Any of the parasympathetic ganglia of the cardiac plexus between the arch of the aorta and the bifurcation of the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl cardiac ganglia set|Wrisberg ganglion|cardiac ganglion of Wrisberg|ganglia cardiaca|ganglion of Wrisberg|cardiac ganglia FMA:77582|EMAPA:36644 uberon owl:Class Any of the parasympathetic ganglia of the cardiac plexus between the arch of the aorta and the bifurcation of the pulmonary artery[http://medical-dictionary.thefreedictionary.com/cardiac+ganglion]. HP:0005326 biolink:NamedThing Hypoplastic philtrum Underdevelopment of the philtrum. tmpxe7fu0cj_hp_relaxed.owl Small philtrum UMLS:C1856886 HP:0005331 human_phenotype owl:Class UBERON:0015146 biolink:NamedThing manus hair A strand of hair that is part of a manus. tmpxe7fu0cj_hp_relaxed.owl hand hair|front paw hair|hair of hand uberon owl:Class UBERON:0015144 biolink:NamedThing autopod hair A strand of hair that is part of a autopod region. tmpxe7fu0cj_hp_relaxed.owl hair of hand/foot|paw hair|hand/foot hair uberon owl:Class GO:0002724 biolink:NamedThing regulation of T cell cytokine production Any process that modulates the frequency, rate, or extent of T cell cytokine production. tmpxe7fu0cj_hp_relaxed.owl regulation of T-cell cytokine production|regulation of T lymphocyte cytokine production|regulation of T-lymphocyte cytokine production biological_process owl:Class HP:0000574 biolink:NamedThing Thick eyebrow Increased density/number and/or increased diameter of eyebrow hairs. tmpxe7fu0cj_hp_relaxed.owl Hypertrichosis of the eyebrow|Heavy eyebrows|Prominent eyebrows|Dense eyebrow|Bushy eyebrows|Hypertrichosis of the eyebrows|Thick eyebrow|Thick eyebrows UMLS:C1853487 Thickness can be regional (medial, middle/central, lateral) or total. HP:0004546 human_phenotype owl:Class UBERON:0010054 biolink:NamedThing malleus cartilage element A malleus endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18229 uberon owl:Class UBERON:0015018 biolink:NamedThing malleus endochondral element A malleus bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl malleus|malleus skeletal element|malleus element uberon owl:Class HP:0025623 biolink:NamedThing Abnormal proportion of CD4+ effector memory cells An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl Abnormal proportion of CD4-positive effector memory cells|Abnormal proportion of effector memory CD4-positive, alpha-beta T cells 2019-04-09 00:11:24+00:00 HPO:probinson HP:0410382 owl:Class HP:0040333 biolink:NamedThing Confluent hypointensity of cerebral white matter on MRI tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-5316-1399 owl:Class UBERON:0013167 biolink:NamedThing cricopharyngeal ligament Laryngeal ligament that connects the cricoid cartilage to the pharynx[WP,modified]. tmpxe7fu0cj_hp_relaxed.owl ligamentum cricopharyngeum|crico-pharyngeal ligament FMA:55260 uberon owl:Class UBERON:0001743 biolink:NamedThing ligament of larynx A ligament that is part of a larynx and connexts the cartilages of the larynx. tmpxe7fu0cj_hp_relaxed.owl larynx ligament|laryngeal ligament EMAPA:37626|FMA:55131|UMLS:C0458519|NCIT:C32933|MA:0001755 uberon owl:Class HP:0002072 biolink:NamedThing Chorea Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. tmpxe7fu0cj_hp_relaxed.owl Choreic movements|Choreiform movements|Choreatic disease MSH:D002819|UMLS:C4020858|SNOMEDCT_US:271700006|UMLS:C0008489 HP:0002397 owl:Class UBERON:0004612 biolink:NamedThing mammalian cervical vertebra 3 The third of the seven cervical vertebrae[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl cervical vertebra 3|third cervical vertebra|third cervical vertebra of axial skeleton|C3 vertebra|cervical vertebrae 3 UMLS:C0459939|EMAPA:19433|MA:0001423|FMA:12521|NCIT:C32241 elements are to be defined spatially/topologically. all mammals have 7 cervical vertebrae under discussion: whether to generalize this beyond mammals, making it purely order-defined uberon owl:Class 3 UBERON:0002413 biolink:NamedThing cervical vertebra A vertebra that is located in the cervical region of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl vertebrae cervicales|cervical vertebrae EMAPA:17674|FMA:9915|MA:0000311|MESH:D002574|NCIT:C12693|galen:CervicalVertebra|XAO:0003076|GAID:235 http://upload.wikimedia.org/wikipedia/commons/f/f8/Illu_vertebral_column.jpg uberon owl:Class In some species, some parts of the skull may be composed of vertebra-like elements, e.g. the occipital bone in humans is composed of four vertebra-like segments. In many vertebrate species, cervical vertebrae are variable in number; however, almost all mammals have seven (including those with very short necks relative to body size, such as elephants or whales, and those with very long necks, such as giraffes). The few exceptions include the manatee and the sloths, of which the two-toed sloth has six cervical vertebrae and the three-toed sloth has up to nine cervical vertebrae. In many species, though not in mammals, the cervical vertebrae bear ribs. In many other groups, such as lizards and saurischian dinosaurs, the cervical ribs are large; in birds they are small and completely fused to the vertebrae. The transverse processes of mammals are homologous to the cervical ribs of other amniotes. Thoracic vertebrae in all species are defined as those vertebrae which also carry a pair of ribs, and lie caudal to the cervical vertebrae. In humans, cervical vertebrae are the smallest of the true vertebrae, and can be readily distinguished from those of the thoracic or lumbar regions by the presence of a foramen (hole) in each transverse process, through which passes the vertebral artery. UBERON:0010235 biolink:NamedThing uvular muscle The musculus uvulae (azygos uvulae) is a muscle of the soft palate. It arises from the posterior nasal spine of the palatine bones and from the palatine aponeurosis. It descends to be inserted into the uvula and functions to move and shape it. It is innervated by the pharyngeal branch of the vagus nerve via the pharyngeal plexus[WP]. tmpxe7fu0cj_hp_relaxed.owl azygos uvulae|uvulae muscle|m. uvulae|musculus uvulae muscle|uvular muscle|musculus uvulae FMA:46733 http://upload.wikimedia.org/wikipedia/commons/b/b7/Gray169.png uberon owl:Class The muscle of the uvuli is an integral part of the soft palate and is innervated by Cranial Nerve X .[FEED] PATO:0000646 biolink:NamedThing malformed A morphological quality inhering in a bearer by virtue of the bearer's being distorted during formation. tmpxe7fu0cj_hp_relaxed.owl malformation quality owl:Class PATO:0001617 biolink:NamedThing deformed A morphological quality inhering in a bearer by virtue of the bearer's being distorted in form. tmpxe7fu0cj_hp_relaxed.owl distorted|disfigured quality owl:Class HP:0001964 biolink:NamedThing Aplasia/Hypoplasia of metatarsal bones Absence or underdevelopment of the metatarsal bones. tmpxe7fu0cj_hp_relaxed.owl Absent/hypoplastic metatarsals|Absent/hypoplastic metacarpals|Absent or hypoplastic metatarsal|Absent/underdeveloped long bone of foot|Absent/small long bone of foot|Aplastic/hypoplastic metatarsals UMLS:C1860182 human_phenotype owl:Class UBERON:0001896 biolink:NamedThing medulla oblongata Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]. tmpxe7fu0cj_hp_relaxed.owl medulla|bulb|medulla oblonzata|bulbus|metepencephalon BM:Me|UMLS:C0025148|EFO:0000924|EHDAA:7588|VHOG:0000181|DMBA:17352|BTO:0000041|MESH:D008526|MAT:0000367|UMLS:C1269575|MIAA:0000111|MBA:354|NCIT:C12442|BIRNLEX:957|MA:0000206|EV:0100275|CALOHA:TS-0607|GAID:590|OpenCyc:Mx4rvVjxSJwpEbGdrcN5Y29ycA|OpenCyc:Mx4rwCqnXJwpEbGdrcN5Y29ycA|FMA:62004|TAO:0000545|Wikipedia:Bone_marrow_of_ovary_oblongata|AAO:0010486|MAT:0000111|ZFA:0000545|EHDAA2:0001088|XAO:0003100|EMAPA:17550|SCTID:279104005|BAMS:MY|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=698|BAMS:Md http://upload.wikimedia.org/wikipedia/commons/6/6b/Illu_pituitary_pineal_glands.jpg uberon owl:Class Posterior portion of the hindbrain which controls respiration, heartbeat, digestion, and swallowing as well as some locomotor responses.[AAO]|The posterior region of the brain that is continuous with the spinal cord. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-17, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] Classical anatomical studies subdivided the vertebrate rhombencephalon into pons and medulla oblongata. (...) The medulla oblongata appears therefore as a tagma, that is, a group of segmental units (pseudorhombomeres, in this case) sharing some morphological and molecular characteristics, and in some aspects different from the segmental units present in adjoining brain regions, pons and spinal cord.[well established][VHOG] UBERON:8410036 biolink:NamedThing medullary venule of lymph node Medullary venules are a continuation of high endothelial venules which condense repeatedly in the interfollicular cortex and peripheral deep cortical unit and then transition to medullary venules at the corticomedullary junction. The medullary venules condense and return centripetally to the hilar vein. tmpxe7fu0cj_hp_relaxed.owl venule of medulla of lymph node http://orcid.org/0000-0002-2825-0621 uberon owl:Class UBERON:8410041 biolink:NamedThing venule of lymph node A venule that is part of a lymph node. tmpxe7fu0cj_hp_relaxed.owl lymph node venule http://orcid.org/0000-0002-2825-0621 uberon owl:Class CHEBI:62501 biolink:NamedThing folate(2-) The dicarboxylic acid dianion formed from folic acid by loss of a proton from each of the two carboxy groups in the glutamic acid moiety. tmpxe7fu0cj_hp_relaxed.owl folate|N-(4-{[(2-amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamate(2-)|pteroylglutamate|pteroyl-L-glutamate|pteroyl-L-monoglutamate -2 C19H17N7O6 InChI=1S/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/p-2/t12-/m0/s1 OVBPIULPVIDEAO-LBPRGKRZSA-L 439.38160 439.12513 Nc1nc2ncc(CNc3ccc(cc3)C(=O)N[C@@H](CCC([O-])=O)C([O-])=O)nc2c(=O)[nH]1 PMCID:PMC8181341|MetaCyc:CPD-12826|PMID:34051149 chebi_ontology owl:Class CHEBI:67011 biolink:NamedThing folates An N-acyl-L-alpha-amino acid anion obtained by deprotonation of any folic acid. tmpxe7fu0cj_hp_relaxed.owl folate|folate anion|folate anions chebi_ontology owl:Class HP:0034144 biolink:NamedThing Anti-hY-RNA complex antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60. tmpxe7fu0cj_hp_relaxed.owl Anti-Ro60 antibody positivity 2021-12-23 13:47:12+00:00 peter owl:Class UBERON:0014907 biolink:NamedThing intersomitic vessel One of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites. tmpxe7fu0cj_hp_relaxed.owl segmental vessel|intersegmental vessels|intersomitic vessels|intersomitic blood vessel|intersegmental vessel TAO:0001285|EMAPA:37389|ZFA:0001285|XAO:0004075|EFO:0003664 uberon owl:Class Blood vessels that connect the dorsal aorta or the posterior cardinal vein and the dorsal longitudinal anastomotic vessel. They run along the vertical myotomal boundaries. At early stages these don't have venous or arterial markers[ZFA:0001285, ZFIN:ZDB-PUB-030908-4]. HP:0100072 biolink:NamedThing Ivory epiphyses of the 4th toe Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the 4th toe bone UMLS:C4022349 doelkens 2010-06-24T09:59:30Z human_phenotype owl:Class UBERON:0008322 biolink:NamedThing deep artery of clitoris The deep artery of clitoris is a branch of the internal pudendal artery. tmpxe7fu0cj_hp_relaxed.owl arteria profunda clitoridis FMA:20870 uberon owl:Class HP:0003870 biolink:NamedThing Crumpled humerus tmpxe7fu0cj_hp_relaxed.owl Crumpled long bone in upper arm UMLS:C4025540 HP:0003873 human_phenotype owl:Class UBERON:0010233 biolink:NamedThing stroma of thyroid gland The connective tissue that supports the lobules and follicles of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl thyroid gland stroma|thyroid stroma FMA:86304 uberon owl:Class GO:0030335 biolink:NamedThing positive regulation of cell migration Any process that activates or increases the frequency, rate or extent of cell migration. tmpxe7fu0cj_hp_relaxed.owl up-regulation of cell migration|stimulation of cell migration|upregulation of cell migration|up regulation of cell migration|activation of cell migration biological_process owl:Class GO:0050908 biolink:NamedThing detection of light stimulus involved in visual perception The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal. tmpxe7fu0cj_hp_relaxed.owl visual perception, sensory transduction of light stimulus|sensory detection of light during visual perception|sensory detection of light stimulus during visual perception|visual perception, detection of light stimulus|visual perception, sensory transduction during perception of light|sensory transduction of light during visual perception|sensory transduction of light stimulus during visual perception biological_process owl:Class UBERON:0002029 biolink:NamedThing epithelium of gall bladder The simple columnar epithelial lining of the gall bladder. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of gall bladder|gallbladder epithelium|epithelial tissue of gallbladder|gall bladder epithelium|epithelium of gallbladder|gall bladder epithelial tissue|biliary epithelium|gallbladder epithelial tissue EMAPA:35370|BTO:0001449|CALOHA:TS-1304|NCIT:C49227|UMLS:C1180206|FMA:67711|MA:0001632 uberon owl:Class HP:0100370 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped outermost bone of 4th toe|Absent/small outermost bone of 4th toe UMLS:C4022121 human_phenotype owl:Class HP:0010371 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Absent/small bones of 4th toe|Absent/underdeveloped bones of 4th toe UMLS:C4023875 doelkens 2009-07-16T11:51:46Z human_phenotype owl:Class GO:0042479 biolink:NamedThing positive regulation of eye photoreceptor cell development Any process that activates or increases the frequency, rate or extent of eye photoreceptor development. tmpxe7fu0cj_hp_relaxed.owl up regulation of eye photoreceptor cell development|stimulation of eye photoreceptor cell development|upregulation of eye photoreceptor cell development|positive regulation of eye photoreceptor development|activation of eye photoreceptor cell development|up-regulation of eye photoreceptor cell development biological_process owl:Class UBERON:0015807 biolink:NamedThing ear epithelium An epithelium that is part of a ear. tmpxe7fu0cj_hp_relaxed.owl EMAPA:32800|MA:0003161 uberon owl:Class CL:2000081 biolink:NamedThing melanocyte of skin of face Any melanocyte of skin that is part of a skin of face. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-12-02T19:10:40Z cell owl:Class CL:1000458 biolink:NamedThing melanocyte of skin A melanocyte that is part of the skin of body. tmpxe7fu0cj_hp_relaxed.owl skin melanocyte CALOHA:TS-2374|FMA:72144 cell owl:Class GO:0035835 biolink:NamedThing indole alkaloid biosynthetic process The chemical reactions and pathways resulting in the formation of an indole alkaloid, an alkaloid containing an indole skeleton. tmpxe7fu0cj_hp_relaxed.owl indole alkaloid formation|indole alkaloid anabolism|indole alkaloid biosynthesis|indole alkaloid synthesis bf 2011-05-04T03:18:31Z biological_process owl:Class GO:0035834 biolink:NamedThing indole alkaloid metabolic process The chemical reactions and pathways involving an indole alkaloid, an alkaloid containing an indole skeleton. tmpxe7fu0cj_hp_relaxed.owl indole alkaloid metabolism bf 2011-05-04T03:17:44Z biological_process owl:Class HP:0006607 biolink:NamedThing Precocious costochondral ossification Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849049 The costal cartilage typically calcifies with advancing age and is therefore easier to identify on radiographs obtained in older patients. human_phenotype owl:Class CHEBI:33703 biolink:NamedThing amino-acid cation tmpxe7fu0cj_hp_relaxed.owl amino-acid cations|amino acid cation|amino-acid cation chebi_ontology owl:Class CHEBI:33702 biolink:NamedThing polyatomic cation A cation consisting of more than one atom. tmpxe7fu0cj_hp_relaxed.owl polyatomic cations chebi_ontology owl:Class UBERON:0007741 biolink:NamedThing metacarpophalangeal joint of manual digit 3 A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 3. tmpxe7fu0cj_hp_relaxed.owl metacarpophalangeal joint of third finger|metacarpophalangeal joint of third digit of hand|metacarpophalangeal joint of manual digit III|carpometacarpophalangeal joint of third digit|metacarpo-phalangeal joint of digit 3 of fore-paw|metacarpophalangeal joint of middle finger|metacarpophalangeal joint of digit 3 FMA:35255|EMAPA:25063 uberon owl:Class HP:0500142 biolink:NamedThing Hypolysinemia A decreased amount of lysine in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood lysine levels|Decreased blood lysine 2018-10-03 20:04:58+00:00 owl:Class HP:0010908 biolink:NamedThing Abnormal circulating lysine concentration Any deviation from the normal concentration of lysine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of lysine metabolism UMLS:C4023660 peter 2010-12-08T08:05:55Z human_phenotype owl:Class UBERON:0014538 biolink:NamedThing subdivision of spinal cord central canal A subdivision of the central canal of the spinal cord along its anterior-posterior axis. This is typically subdivided into cervical, thoracic, lumbar and sacral segments. tmpxe7fu0cj_hp_relaxed.owl regional part of spinal cord central canal BIRNLEX:717 uberon owl:Class UBERON:0014489 biolink:NamedThing middle phalanx of digit 3 A middle phalanx that is part of a digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl middle phalanx of third digit|third digit intermediate phalanx|third middle phalanx|intermediate phalanx of digit 3|middle phalanx of digit III|3rd digit of intermediate phalanx|middle phalanx of middle digit|third digit middle phalanx|digit 3 middle phalanx|intermediate phalanx of 3rd digit|middle phalanx of 3rd digit|digit III P2|3rd digit intermediate phalanx|3rd digit middle phalanx|intermediate phalanx of third digit|3rd digit of middle phalanx|digit 3 intermediate phalanx uberon owl:Class CHEBI:50330 biolink:NamedThing 2-amino-2-oxoethyl group tmpxe7fu0cj_hp_relaxed.owl asparagine side-chain|2-amino-2-oxoethyl 0 C2H4NO 58.05930 58.02929 C(=O)(C*)N chebi_ontology owl:Class GO:0051873 biolink:NamedThing killing by host of symbiont cells Any process mediated by an organism that results in the death of cells in the symbiont organism. The symbiont is defined as the smaller of the organisms involved in a symbiotic interaction. tmpxe7fu0cj_hp_relaxed.owl disruption by host of symbiont cells https://github.com/geneontology/go-ontology/issues/18719 GO:0051852 biological_process owl:Class HP:0010328 biolink:NamedThing Polydactyly affecting the 2nd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023901 doelkens 2009-07-16T11:40:18Z human_phenotype owl:Class HP:0010112 biolink:NamedThing Mesoaxial foot polydactyly The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. tmpxe7fu0cj_hp_relaxed.owl Central polydactyly of feet UMLS:C4021333 doelkens 2009-05-29T01:11:06Z human_phenotype owl:Class GO:1905305 biolink:NamedThing negative regulation of cardiac myofibril assembly Any process that stops, prevents or reduces the frequency, rate or extent of cardiac myofibril assembly. tmpxe7fu0cj_hp_relaxed.owl negative regulation of cardiac myofibril morphogenesis|inhibition of cardiac myofibril morphogenesis|downregulation of cardiac myofibril morphogenesis|down-regulation of cardiac myofibril assembly|down regulation of cardiac myofibril morphogenesis|inhibition of cardiac myofibril development|down-regulation of cardiac myofibril development|negative regulation of cardiac myofibril development|negative regulation of heart myofibril assembly|downregulation of cardiac myofibril assembly|down regulation of cardiac myofibril assembly|inhibition of heart myofibril assembly|downregulation of cardiac myofibril development|downregulation of heart myofibril assembly|down regulation of cardiac myofibril development|down-regulation of cardiac myofibril morphogenesis|inhibition of cardiac myofibril assembly|down-regulation of heart myofibril assembly|down regulation of heart myofibril assembly rl 2016-07-06T10:01:58Z biological_process owl:Class GO:0051494 biolink:NamedThing negative regulation of cytoskeleton organization Any process that stops, prevents, or reduces the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpxe7fu0cj_hp_relaxed.owl negative regulation of cytoskeleton organisation|negative regulation of cytoskeleton organization and biogenesis|downregulation of cytoskeleton organization|down regulation of cytoskeleton organization|down-regulation of cytoskeleton organization|inhibition of cytoskeleton organization biological_process owl:Class HP:0006233 biolink:NamedThing Osteoarthritis of the distal interphalangeal joint tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:239869009|UMLS:C0409957 human_phenotype owl:Class GO:1901609 biolink:NamedThing negative regulation of vesicle transport along microtubule Any process that stops, prevents or reduces the frequency, rate or extent of vesicle transport along microtubule. tmpxe7fu0cj_hp_relaxed.owl inhibition of vesicle transport along microtubule|down regulation of microtubule-based vesicle localization|down-regulation of microtubule-based vesicle localization|down-regulation of vesicle transport along microtubule|down regulation of vesicle transport along microtubule|inhibition of microtubule-based vesicle localization|negative regulation of microtubule-based vesicle localization|downregulation of microtubule-based vesicle localization|downregulation of vesicle transport along microtubule hjd 2012-11-08T21:49:48Z biological_process owl:Class PR:000001015 biolink:NamedThing receptor-type tyrosine-protein phosphatase C isoform CD45RA A receptor-type tyrosine-protein phosphatase C isoform CD45R that is a translation product of some mRNA giving rise to a protein with the amino acid sequence represented by UniProtKB:P08575-8 or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl PTPRC/iso:CD45RA|CD45RA Category=sequence. Requested by=CL. Note: This isoform includes the region encoded by the variable exon 4(A), and lacks the region encoded by exons 5(B) and 6(C). protein owl:Class PR:000050216 biolink:NamedThing receptor-type tyrosine-protein phosphatase C isoform CD45R A receptor-type tyrosine-protein phosphatase C that is a translation product of a transcript that minimally includes the region encoded by the variable exon 4(A). tmpxe7fu0cj_hp_relaxed.owl CD45R|PTPRC/iso:CD45R Category=seqgroup. Requested by=CL. protein owl:Class GO:0045089 biolink:NamedThing positive regulation of innate immune response Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. tmpxe7fu0cj_hp_relaxed.owl up-regulation of innate immune response|up regulation of innate immune response|upregulation of innate immune response|stimulation of innate immune response biological_process owl:Class PATO:0002169 biolink:NamedThing split medially A shape quality inhering in a bearer by virtue of the bearer's being split along the median axis. tmpxe7fu0cj_hp_relaxed.owl 2010-02-03T04:37:15Z quality owl:Class PATO:0001786 biolink:NamedThing split A shape quality inhering in a bearer by virtue of the bearer's being divided or broken up into parts or divisions. tmpxe7fu0cj_hp_relaxed.owl septate|clefted|divided|subdivided|forked quality owl:Class UBERON:0005563 biolink:NamedThing trigeminal neural crest Cranial neural crest which gives rise to the trigeminal ganglion. tmpxe7fu0cj_hp_relaxed.owl ZFA:0000080|EFO:0003484|EHDAA2:0002083|VHOG:0000269|TAO:0000080|EHDAA:667|EMAPA:16170 todo - compare ZFA and EHDAA2 representation uberon owl:Class We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] UBERON:0007530 biolink:NamedThing migrating mesenchyme population Mesenchymal cells that are migrating. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0003152|AEO:0000152 this class will be an important part of the NC reorganization EHDAA2:0003152 uberon owl:Class GO:0071672 biolink:NamedThing negative regulation of smooth muscle cell chemotaxis Any process that stops, prevents, or reduces the frequency, rate, or extent of smooth muscle cell chemotaxis. tmpxe7fu0cj_hp_relaxed.owl down-regulation of smooth muscle cell chemotaxis|down regulation of smooth muscle cell chemotaxis|inhibition of smooth muscle cell chemotaxis|downregulation of smooth muscle cell chemotaxis mah 2010-02-16T01:44:28Z biological_process owl:Class HP:0030885 biolink:NamedThing Recurrent parasitic infections Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280726 owl:Class HP:0000321 biolink:NamedThing Square face Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. tmpxe7fu0cj_hp_relaxed.owl Square facial shape|Square face|Square facies UMLS:C1832127 human_phenotype owl:Class HP:0012353 biolink:NamedThing Decreased fucosylation of N-linked protein glycosylation Decreased addition of fucose sugar units to N-linked glycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022938 peter 2013-09-15T10:20:00Z human_phenotype owl:Class HP:0012352 biolink:NamedThing Abnormal fucosylation of protein N-linked glycosylation An anomaly of the addition of fucose sugar units to N-linked glycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022939 peter 2013-09-15T10:17:55Z human_phenotype owl:Class GO:0010625 biolink:NamedThing positive regulation of Schwann cell proliferation Any process that increases the frequency or rate of the multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0060252 biolink:NamedThing positive regulation of glial cell proliferation Any process that activates or increases the rate or extent of glial cell proliferation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010650 biolink:NamedThing Hypoplasia of the premaxilla An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures. tmpxe7fu0cj_hp_relaxed.owl Decreased size of the primary palate bone|Premaxillary underdevelopment|Underdevelopment of the primary palate bone|Premaxillary bone retrusion|Underdevelopment of the premaxilla|Premaxillary retrusion|Small premaxilla|Primary palate bone deficiency|Underdevelopment of premaxilla|Primary palate bone retrusion|Premaxillary bone deficiency|Hypoplasia of the intermaxillary bone|Hypoplasia of the primary palate bone|Small primary palate bone|Decreased size of premaxilla UMLS:C4020770|UMLS:C4072878 peter 2010-02-25T10:11:43Z human_phenotype owl:Class HP:0002692 biolink:NamedThing Hypoplastic facial bones tmpxe7fu0cj_hp_relaxed.owl Hypotrophic facial bones|Hypotrophic facial skeleton|Underdevelopment of facial bones|Small facial bones|Flattening of facial skeleton|Small facial skeleton|Underdevelopment of facial skeleton|Decreased size of facial skeleton|Decreased size of facial bones|Hypoplasia of facial skeleton|Flattening of facial bones UMLS:C4280268|UMLS:C4280558|UMLS:C4280557|UMLS:C1846438|UMLS:C4229090 human_phenotype owl:Class GO:0000791 biolink:NamedThing euchromatin A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation. tmpxe7fu0cj_hp_relaxed.owl transcriptionally active chromatin|nuclear euchromatin https://github.com/geneontology/go-ontology/issues/22355 NIF_Subcellular:sao445485807|Wikipedia:Euchromatin GO:0005719|GO:0035327 cellular_component owl:Class GO:0000785 biolink:NamedThing chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. tmpxe7fu0cj_hp_relaxed.owl cytoplasmic chromatin|nuclear chromatin|chromosome scaffold NIF_Subcellular:sao1615953555 Chromosomes include parts that are not part of the chromatin. Examples include the kinetochore. GO:0000790|GO:0005717|GO:0000789 cellular_component owl:Class HP:0007543 biolink:NamedThing Epidermal hyperkeratosis tmpxe7fu0cj_hp_relaxed.owl Increased thickness of skin epidermis UMLS:C1848773 human_phenotype owl:Class UBERON:0004767 biolink:NamedThing vomerine tooth A tooth that is on the vomer. tmpxe7fu0cj_hp_relaxed.owl TAO:0001631|AAO:0000635 uberon owl:Class Tooth that is attached to the vomer.[TAO] relationship type change: OBO_REL:part_of vomer (TAO:0000308) CHANGED TO: attaches_to vomer (UBERON:0002396)[TAO] UBERON:0012070 biolink:NamedThing palatal tooth A tooth that is on the roof of the mouth. tmpxe7fu0cj_hp_relaxed.owl palatal teeth uberon owl:Class HP:0030423 biolink:NamedThing Splenic cyst A closed sac located in the spleen. tmpxe7fu0cj_hp_relaxed.owl Cyst on spleen SNOMEDCT_US:79040006|UMLS:C0272407 owl:Class UBERON:0006953 biolink:NamedThing ejaculatory duct epithelium The ejaculatory duct epithelium is composed of cuboidal to columnar cells between or through which project the terminal parts of the ducts of the unicellular prostate glands. tmpxe7fu0cj_hp_relaxed.owl EMAPA:29786|BTO:0002618 TODO - split off insect classes uberon owl:Class HP:0002161 biolink:NamedThing Hyperlysinemia An increased concentration of lysine in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated blood lysine MSH:D020167|UMLS:C0268553|SNOMEDCT_US:58558003 Normal blood lysine levels are around 180-200 micromole per liter. human_phenotype owl:Class HP:0100934 biolink:NamedThing Sclerosis of the proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the innermost bone of the pinkie toe|Increased bone density in the innermost bone of the pinky toe|Increased bone density in the innermost bone of the little toe UMLS:C4021924 human_phenotype owl:Class HP:0100929 biolink:NamedThing Sclerosis of 5th toe phalanx An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in pinky toe bone|Sclerosis of the phalanges of the 5th toe|Increased bone density in little toe bone|Increased bone density in pinkie toe bone UMLS:C4020927 human_phenotype owl:Class HP:0010526 biolink:NamedThing Dysgraphia A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0234144|SNOMEDCT_US:88278002|MSH:D000381 peter 2009-09-20T11:40:43Z owl:Class CL:0002372 biolink:NamedThing myotube A transversely striated, synctial muscle cell, formed by the fusion of myoblasts. tmpxe7fu0cj_hp_relaxed.owl single cell sarcomere|myotubule tmeehan 2010-09-24T01:13:01Z CL:0000369 cell owl:Class GO:1904676 biolink:NamedThing negative regulation of somatic stem cell division Any process that stops, prevents or reduces the frequency, rate or extent of somatic stem cell division. tmpxe7fu0cj_hp_relaxed.owl down regulation of somatic stem cell division|down-regulation of somatic stem cell renewal|downregulation of somatic stem cell renewal|inhibition of somatic stem cell renewal|negative regulation of somatic stem cell renewal|inhibition of somatic stem cell division|down regulation of somatic stem cell renewal|down-regulation of somatic stem cell division|downregulation of somatic stem cell division rph 2015-09-14T08:47:28Z biological_process owl:Class HP:0025637 biolink:NamedThing Vasospasm Narrowing of an artery due to constriction of the blood vessels. tmpxe7fu0cj_hp_relaxed.owl Vascular spasm|Angiospasm|Blood vessel spasm 2019-04-26 17:51:29+00:00 HPO:probinson owl:Class HP:0006172 biolink:NamedThing Flattened, squared-off epiphyses of tubular bones tmpxe7fu0cj_hp_relaxed.owl Flattened, squared-off end part of tubular bones UMLS:C1834961 human_phenotype owl:Class GO:1902513 biolink:NamedThing regulation of organelle transport along microtubule Any process that modulates the frequency, rate or extent of organelle transport along microtubule. tmpxe7fu0cj_hp_relaxed.owl regulation of microtubule-based organelle localization dph 2013-11-15T20:15:17Z biological_process owl:Class GO:0060632 biolink:NamedThing regulation of microtubule-based movement Any process that modulates the rate, frequency, or extent of microtubule-based movement, the movement of organelles, other microtubules and other particles along microtubules, mediated by motor proteins. tmpxe7fu0cj_hp_relaxed.owl dph 2009-05-18T03:07:02Z biological_process owl:Class HP:0008947 biolink:NamedThing Infantile muscular hypotonia Muscular hypotonia (abnormally low muscle tone) manifesting in infancy. tmpxe7fu0cj_hp_relaxed.owl Hypotonia in infancy|Infantile hypotonia|Hypotonia, early|Decreased muscle tone in infant|Hypotonia early UMLS:C1860834 This term should not be used for new annotations. Instead, state the type of onset of hypotonia more exactly. HP:0002523|HP:0010572|HP:0002449 human_phenotype owl:Class HP:0032297 biolink:NamedThing Increased circulating IgG3 level An abnormally increased concentration of the IgG3 subtype in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 22:50:02+00:00 IgG3 antibodies are particularly effective in the induction of effector functions. peter owl:Class GO:0016774 biolink:NamedThing phosphotransferase activity, carboxyl group as acceptor Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to a carboxyl group (acceptor). tmpxe7fu0cj_hp_relaxed.owl EC:2.7.2.- molecular_function owl:Class GO:1903779 biolink:NamedThing regulation of cardiac conduction Any process that modulates the frequency, rate or extent of cardiac conduction. tmpxe7fu0cj_hp_relaxed.owl rph 2015-01-07T13:20:11Z biological_process owl:Class GO:0023051 biolink:NamedThing regulation of signaling Any process that modulates the frequency, rate or extent of a signaling process. tmpxe7fu0cj_hp_relaxed.owl regulation of signalling process|regulation of signaling process 2010-02-16T09:30:50Z biological_process owl:Class HP:0033337 biolink:NamedThing Abnormal gametogenesis An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 18:23:09+00:00 peter owl:Class HP:0000080 biolink:NamedThing Abnormality of reproductive system physiology An abnormal functionality of the genital system. tmpxe7fu0cj_hp_relaxed.owl Genital functional abnormality|Abnormality of reproductive system physiology|Abnormality of genital physiology UMLS:C4021820|UMLS:C4020896 human_phenotype owl:Class UBERON:0001873 biolink:NamedThing caudate nucleus Subcortical nucleus of telecephalic origin consisting of an elongated gray mass lying lateral to and bordering the lateral ventricle. It is divided into a head, body and tail in some species. tmpxe7fu0cj_hp_relaxed.owl caudatum|Ammon horn fields|nucleus caudatus|caudatus EMAPA:18207|NCIT:C12451|GAID:670|EFO:0000907|MESH:A08.186.211.730.885.105.487.550.184|BTO:0000211|UMLS:C0007461|EV:0100185|OpenCyc:Mx4rvvyAjJwpEbGdrcN5Y29ycA|DHBA:10334|BIRNLEX:1373|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=226|FMA:61833|CALOHA:TS-0121|EHDAA2:0004461|BM:Tel-CA|MA:0000894|BAMS:Cd|HBA:4278|PBA:10082|DMBA:15855|BAMS:CA|MAT:0000513 http://upload.wikimedia.org/wikipedia/commons/9/91/Telencephalon-Horiconatal.jpg UBERON:0010122 uberon owl:Class Nucleus of brain which is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent[FMA:61833]. UBERON:0009663 biolink:NamedThing telencephalic nucleus A nucleus of brain that is part of a telencephalon. tmpxe7fu0cj_hp_relaxed.owl TAO:0002178|ZFA:0001660 uberon owl:Class GO:0061047 biolink:NamedThing positive regulation of branching involved in lung morphogenesis Any process that increases the rate, frequency, or extent of the process in which a highly ordered sequence of patterning events generates the branched structures of the lung, consisting of reiterated combinations of bud outgrowth, elongation, and dichotomous subdivision of terminal units. tmpxe7fu0cj_hp_relaxed.owl dph 2010-02-25T10:50:01Z biological_process owl:Class HP:4000048 biolink:NamedThing Comminuted fracture A type of fracture in which the break is in three or more pieces and fragments are present at the fracture site. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 20:52:20+00:00 robinp owl:Class HP:4000042 biolink:NamedThing Fracture type Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110). tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 20:47:02+00:00 robinp owl:Class GO:0001705 biolink:NamedThing ectoderm formation The formation of ectoderm during gastrulation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0001704 biolink:NamedThing formation of primary germ layer The formation of the ectoderm, mesoderm and endoderm during gastrulation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0003265 biolink:NamedThing chorionic mesenchyme A mesenchyme that is part of a chorion. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of chorion|chorion mesoderm|chorionic mesenchyme|mesenchyme of chorion (vertebrates)|chorion mesenchyme EHDAA2:0003245|EHDAA:154|EMAPA:16266|VHOG:0000620|RETIRED_EHDAA2:0000247|EMAPA:16114 TODO - check UBERON:0003423 uberon owl:Class GO:0050912 biolink:NamedThing detection of chemical stimulus involved in sensory perception of taste The series of events involved in the perception of taste in which a gustatory chemical stimulus is received and converted into a molecular signal. tmpxe7fu0cj_hp_relaxed.owl perception of taste, sensory detection of chemical stimulus|sensory detection of chemical stimulus during perception of taste|sensory transduction of chemical stimulus during perception of taste|sensory transduction of taste|taste perception|sensory detection of taste|perception of taste, sensory transduction of chemical stimulus|perception of taste, detection of chemical stimulus biological_process owl:Class GO:0050907 biolink:NamedThing detection of chemical stimulus involved in sensory perception The series of events in which a chemical stimulus is received and converted into a molecular signal as part of sensory perception. tmpxe7fu0cj_hp_relaxed.owl sensory detection of chemical stimulus|sensory transduction of chemical stimulus during sensory perception|sensory detection of chemical stimulus during sensory perception|sensory perception, sensory detection of chemical stimulus|sensory perception, sensory transduction of chemical stimulus|sensory transduction of chemical stimulus biological_process owl:Class HP:0000090 biolink:NamedThing Nephronophthisis Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. tmpxe7fu0cj_hp_relaxed.owl juvenile nephronophthisis SNOMEDCT_US:204958008|UMLS:C0687120 Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. HP:0004748 human_phenotype owl:Class HP:0100957 biolink:NamedThing Abnormal renal medulla morphology Any structural abnormality of the medulla of the kidney. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the renal medulla UMLS:C4021911 The renal pyramids of the adult kidney resemble a cone with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. The adult renal medulla is made up of 10-18 pyramids. A pyramid consists of the medullary collecting ducts, loops of Henle, vasa recta (straight capillaries) and the interstitium. The main function of the medulla is to regulate concentration of the urine. The urine flows from the collecting ducts into the renal calyces and pelvis. doelkens 2011-12-12T10:02:15Z HP:0005582 human_phenotype owl:Class HP:0003366 biolink:NamedThing Abnormal femoral neck/head morphology tmpxe7fu0cj_hp_relaxed.owl Abnormal neck or head of thigh bone|Abnormality of the femoral neck or head region UMLS:C4025622 owl:Class HP:0025689 biolink:NamedThing Extra-abdominal umbilical vein varix Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth. tmpxe7fu0cj_hp_relaxed.owl Intra-abdominal umbilical vein varix is defined to be 9 mm or greater in diameter or alternatively to have a diameter that is 50 percent wider than that of the intrahepatic umbilical vein. peterrobinson owl:Class HP:0030656 biolink:NamedThing Umbilical vein varix Focal dilation of the umbilical vein. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073115 UToronto:chum owl:Class UBERON:0008842 biolink:NamedThing suspensory ligament of testis The cranial atrophic portion of the urogenital ridge attached to the cranial pole of the intraabdominal embryonic testis. tmpxe7fu0cj_hp_relaxed.owl scrotal ligament uberon owl:Class UBERON:0015181 biolink:NamedThing neck of tooth The slightly constricted part of a tooth, between the crown and the root. tmpxe7fu0cj_hp_relaxed.owl cervical margin of tooth|cervix dentis|cervical zone of tooth|collumn dentis|cervix of tooth|tooth neck|dental neck NCIT:C32346|FMA:55627 uberon owl:Class HP:0001426 biolink:NamedThing Multifactorial inheritance A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. tmpxe7fu0cj_hp_relaxed.owl Familial predisposition UMLS:C0600599|MSH:D020412 The observed inheritance for a multifactorial genetic trait or disorder may have a higher frequency within the same family, whether the etiology is genetic or environmental, or a combination of the two. HP:0001429|HP:0001472 human_phenotype owl:Class HP:0410389 biolink:NamedThing Decreased proportion of central memory CD8-positive, alpha-beta T cells A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0032230 biolink:NamedThing Cytoplasmic antineutrophil antibody positivity The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils. tmpxe7fu0cj_hp_relaxed.owl Anti-neutrophil cytoplasmic antibody positivity 2019-01-26 14:43:56+00:00 peter owl:Class HP:0033147 biolink:NamedThing Abnormal circulating short-chain fatty-acid concentration Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-09-19 11:37:22+00:00 A short-chain fatty acid is defined as n aliphatic monocarboxylic acid with a chain length of less than C6. If any non-hydrocarbon substituent is present, the compound is not normally regarded as a short-chain fatty acid. peter owl:Class HP:0004359 biolink:NamedThing Abnormal circulating fatty-acid concentration A deviation from the normal concentration of a fatty acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of fatty acid metabolism|Fatty acids abnormal UMLS:C4021656|UMLS:C4020830 A fatty acid is an aliphatic monocarboxylic acid derived from or contained in esterified form. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. R-COOH. Fatty acids are usually derived from triglycerides or phospholipids. peter 2008-03-17T03:28:00Z owl:Class HP:0002867 biolink:NamedThing Abnormal ilium morphology An abnormality of the ilium, the largest and uppermost bone of the pelvis. tmpxe7fu0cj_hp_relaxed.owl Iliac abnormalities|Abnormality of the ilium UMLS:C4021746 owl:Class HP:0031199 biolink:NamedThing Acellular urinary casts A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells. tmpxe7fu0cj_hp_relaxed.owl Acellular casts 2017-06-27 10:55:36+00:00 peter owl:Class HP:0012615 biolink:NamedThing Cylindruria The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine. tmpxe7fu0cj_hp_relaxed.owl Urinary casts UMLS:C0151990|SNOMEDCT_US:5277004 Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. The casts are suibsequently eliminated via the urine and may be seen by microscopy of the urine sediment. A large number of casts can indicate kidney disease. Urinary casts are composed of Tamm-Horsfall protein, which is a mucoprotein that is secreted by the distal loop of Henle. peter 2014-01-17T12:03:19Z human_phenotype owl:Class HP:0001852 biolink:NamedThing Sandal gap A widely spaced gap between the first toe (the great toe) and the second toe. tmpxe7fu0cj_hp_relaxed.owl Widened gap first and second toe|Wide space between first and second toes|Widely spaced 1st-2nd toes|Wide space between 1st, 2nd toes|Gap between 1st and 2nd toes|Widened gap 1st-2nd toes|Widely spaced first and second toes|Sandal gap between first and second toes|Increased space between first and second toes|Gap between first and second toe|Wide-spaced big toe|Space between great toe and second toe UMLS:C1840069 human_phenotype owl:Class HP:0001780 biolink:NamedThing Abnormality of toe An anomaly of a toe. tmpxe7fu0cj_hp_relaxed.owl Abnormality of toe|Abnormalities of the toes UMLS:C2674738 human_phenotype owl:Class HP:0031549 biolink:NamedThing Lymphocytoma cutis Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis. tmpxe7fu0cj_hp_relaxed.owl Spiegler-Fendt sarcoid|Skin pseudolymphoma 2017-09-24 23:14:34+00:00 peter owl:Class HP:0009310 biolink:NamedThing Broad proximal phalanx of the 4th finger Increased width of the proximal phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Broad innermost ring finger bone UMLS:C4020660 doelkens 2009-01-08T05:11:48Z HP:0004201 human_phenotype owl:Class HP:0009852 biolink:NamedThing Broad proximal phalanges of the hand Increased width of the proximal phalanges of the finger. tmpxe7fu0cj_hp_relaxed.owl Broad innermost finger bones of the hand|Wide innermost finger bones of the hand UMLS:C4024181 doelkens 2009-03-11T12:16:33Z HP:0006168 human_phenotype owl:Class HP:0010736 biolink:NamedThing Monostotic fibrous dysplasia Fibrous dysplasia of the bones were lesions are localized in only one bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0016064|SNOMEDCT_US:89859004|MSH:D005358 doelkens 2010-04-21T06:31:50Z human_phenotype owl:Class HP:0010734 biolink:NamedThing Fibrous dysplasia of the bones Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). tmpxe7fu0cj_hp_relaxed.owl MSH:D005357|SNOMEDCT_US:10623005|UMLS:C0016063 doelkens 2010-04-21T06:27:42Z human_phenotype owl:Class UBERON:0010033 biolink:NamedThing posterior part of tongue The Posterior tongue, or pharyngeal part, is the part of the tongue behind the terminal sulcus. At its root, it is directed backward, and connected with the hyoid bone by the Hyoglossi and Genioglossi muscles and the hyoglossal membrane; with the epiglottis by three folds (glossoepiglottic) of mucous membrane; with the soft palate by the glossopalatine arches; and with the pharynx by the Constrictores pharyngis superiores and the mucous membrane. It is derived primarily from the third pharyngeal arch. (The second arch has a substantial contribution during fetal development, but this later atrophies. The fourth arch may also contribute, depending upon how the boundaries of the tongue are defined.). tmpxe7fu0cj_hp_relaxed.owl pars posterior (dorsum linguae)|base of the tongue|posterior third of tongue|base of tongue|radix linguae|pars postsulcalis (dorsum linguae)|pars posterior linguae|posterior 1/3 of the tongue|pharyngeal part of tongue|postsulcal part of dorsum of tongue|pharyngeal part of the tongue|pars posterior dorsi linguae|pharyngeal portion of dorsum of tongue|posterior part of dorsum of tongue UMLS:C0226958|FMA:54645|NCIT:C12228|MA:0003031|EMAPA:37438 Illu04:tongue.jpg uberon owl:Class PATO:0001714 biolink:NamedThing increased diameter A diameter which is relatively large. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:2000294 biolink:NamedThing positive regulation of defecation Any process that activates or increases the frequency, rate or extent of defecation. tmpxe7fu0cj_hp_relaxed.owl bf 2010-12-21T09:23:16Z biological_process owl:Class HP:0003411 biolink:NamedThing Proximal femoral metaphyseal irregularity Irregularity of the normally smooth surface of the proximal metaphysis of the femur. tmpxe7fu0cj_hp_relaxed.owl Irregular proximal femoral metaphyses UMLS:C1836320 human_phenotype owl:Class GO:0007346 biolink:NamedThing regulation of mitotic cell cycle Any process that modulates the rate or extent of progress through the mitotic cell cycle. tmpxe7fu0cj_hp_relaxed.owl mitotic cell cycle regulator|mitotic cell cycle regulation|regulation of mitotic cell cycle progression|modulation of mitotic cell cycle progression|regulation of progression through mitotic cell cycle|mitotic cell cycle modulation biological_process owl:Class HP:0030818 biolink:NamedThing Central nail canal The presense of a depressed line ("canal") in the center of the nail. tmpxe7fu0cj_hp_relaxed.owl Median nail dystrophy UMLS:C0263526|SNOMEDCT_US:238718006|SNOMEDCT_US:86393005 Central nail canal may be observed with conditions including severe arterial disease, severe malnutrition, and repetitive trauma. Heller's fir tree deformity refers to a central canal with a fir tree appearanceand may occur with peripheral artery disease. owl:Class UBERON:0002293 biolink:NamedThing costochondral joint A bars of hyaline cartilage located between the distal part of a rib and a costal cartilage, connecting the ribs to the sternum . tmpxe7fu0cj_hp_relaxed.owl articulatio costochondralis|articulationes costochondrales|costochondral junction|costochondral synchondrosis|chondrocostal synchondrosis UMLS:C0224683|MA:0001509|EMAPA:36490|NCIT:C32392|FMA:7956|OpenCyc:Mx4rvfy27JwpEbGdrcN5Y29ycA uberon owl:Class In humans, Joints between costal cartilages of ribs 6-9 are plane synovial joints. Articulation between costal cartilage of rib 9 and rib 10 is fibrous UBERON:0002001 biolink:NamedThing joint of rib Any joint that connects a rib to another structure (or another rib). Examples: costochondral, costovertebral, interchondral, sternocostal joints. tmpxe7fu0cj_hp_relaxed.owl rib joint NCIT:C49575|UMLS:C1261194|FMA_RETIRED:64994|MA:0001508 uberon owl:Class HP:0006170 biolink:NamedThing Chess-pawn distal phalanges A morphological abnormality of distal phalanges such that they have the appearance of chess pawns. tmpxe7fu0cj_hp_relaxed.owl Chess-pawn shaped outermost bone UMLS:C1862097 human_phenotype owl:Class HP:0009840 biolink:NamedThing Patchy sclerosis of distal phalanx of finger Uneven (irregular) increase in bone density of the distal phalanges of the hand. tmpxe7fu0cj_hp_relaxed.owl Patchy sclerosis of the distal phalanges of the hand|Uneven increase in bone density in outermost finger bone UMLS:C4021384 doelkens 2009-03-11T12:10:11Z HP:0009868 human_phenotype owl:Class HP:0009772 biolink:NamedThing Patchy sclerosis of finger phalanx Uneven (irregular) increase in bone density of one or more of the phalanges of the hand. tmpxe7fu0cj_hp_relaxed.owl Phalangeal sclerosis|Uneven increase in bone density in finger bone|Patchy sclerosis of the phalanges of the hand UMLS:C1857508 doelkens 2009-02-02T11:38:04Z HP:0006071 human_phenotype owl:Class GO:0055063 biolink:NamedThing sulfate ion homeostasis Any process involved in the maintenance of an internal steady state of sulfate ions within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl sulfate homeostasis|sulphate ion homeostasis GO:0080174 biological_process owl:Class GO:0043021 biolink:NamedThing ribonucleoprotein complex binding Binding to a complex of RNA and protein. tmpxe7fu0cj_hp_relaxed.owl RNP binding|ribonucleoprotein binding|protein-RNA complex binding molecular_function owl:Class HP:0040328 biolink:NamedThing Focal hyperintensity of cerebral white matter on MRI An abnormal area of increased brightness (hyperintensity) that is limited to one particular area. tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-5316-1399 owl:Class HP:0030890 biolink:NamedThing Hyperintensity of cerebral white matter on MRI A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. tmpxe7fu0cj_hp_relaxed.owl White matter hyperintensity ORCID:0000-0002-5316-1399 owl:Class GO:0043167 biolink:NamedThing ion binding Binding to an ion, a charged atoms or groups of atoms. tmpxe7fu0cj_hp_relaxed.owl atom binding molecular_function owl:Class GO:0061075 biolink:NamedThing positive regulation of neural retina development Any process that increases the rate, frequency, or extent of neural retina development, the progression of the neural retina over time from its initial formation to the mature structure. The neural retina is the part of the retina that contains neurons and photoreceptor cells. tmpxe7fu0cj_hp_relaxed.owl dph 2010-03-16T11:59:48Z biological_process owl:Class GO:0031334 biolink:NamedThing positive regulation of protein-containing complex assembly Any process that activates or increases the frequency, rate or extent of protein complex assembly. tmpxe7fu0cj_hp_relaxed.owl up regulation of protein complex assembly|positive regulation of protein complex assembly|upregulation of protein complex assembly|stimulation of protein complex assembly|up-regulation of protein complex assembly|activation of protein complex assembly biological_process owl:Class HP:0032172 biolink:NamedThing Air crescent sign A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan. tmpxe7fu0cj_hp_relaxed.owl 2019-01-06 10:55:10+00:00 The air crescent sign is said to be characteristic of invasive pulmonary aspergillosis, but it can also be seen in cavitating neoplasms, lung abscesses, and infections. This sign is considered a good marker of immune activity as it is seen when the necrotic tissue gets invaded by leukocytes and replaced by air in invasive pulmonary aspergillosis. Other conditions in which air crescent sign can be seen are pulmonary gangrene, pulmonary hematoma, Rasmussen aneurysm in a tuberculous cavity, and lung hydatid. peter owl:Class HP:0033775 biolink:NamedThing Pulmonary imaging sign An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images. tmpxe7fu0cj_hp_relaxed.owl 2021-05-04 14:47:16+00:00 peter owl:Class HP:0010297 biolink:NamedThing Bifid tongue Tongue with a median apical indentation or fork. tmpxe7fu0cj_hp_relaxed.owl Cleft tongue|Forked tongue|Bifurcated tongue|Snake tongue|Split tongue|Bilobed tongue UMLS:C4255098|UMLS:C0266111|SNOMEDCT_US:84557007 Bifid tongue can be associated with ankyloglossia, but this should be assessed and coded separately. Small indentations of the tip of the tongue should not be coded as a bifid tongue. peter 2009-07-12T11:47:28Z owl:Class GO:0021705 biolink:NamedThing locus ceruleus formation The process that gives rise to the locus ceruleus. This process pertains to the initial formation of a structure from unspecified parts. In mice, the locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0410262 biolink:NamedThing Lower cranial nerve dysfunction A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves. tmpxe7fu0cj_hp_relaxed.owl Abnormal lower cranial nerve function 2018-10-19 22:03:52+00:00 owl:Class CHEBI:15551 biolink:NamedThing prostaglandin E2 Prostaglandin F2alpha in which the hydroxy group at position 9 has been oxidised to the corresponding ketone. Prostaglandin E2 is the most common and most biologically potent of mammalian prostaglandins. tmpxe7fu0cj_hp_relaxed.owl PGE2|dinoprostona|(5Z,11alpha,13E,15S)-11,15-dihydroxy-9-oxoprosta-5,13-dien-1-oic acid|(15S)-prostaglandin E2|dinoprostonum|(5Z,13E,15S)-11alpha,15-dihydroxy-9-oxoprosta-5,13-dien-1-oic acid|Minprostin E2|Minprositin E2|Dinoproston|(Z)-7-((1R,2R,3R)-3-hydroxy-2-((S,E)-3-hydroxyoct-1-enyl)-5-oxocyclopentyl)hept-5-enoic acid|Cerviprost|U 12062|Enzaprost E|Prostarmon E|(E,Z)-(1R,2R,3R)-7-(3-Hydroxy-2-((3S)-(3-hydroxy-1-octenyl))-5-oxocyclopentyl)-5-heptenoic acid|U-12062|Prostenone|Cervidil|Propess|Prostaglandin E2|U-12,062|Cerviprime|Glandin-E2|Prostin E2|(5Z,13E)-(15S)-11alpha,15-Dihydroxy-9-oxoprost-13-enoate|(5Z,13E)-(15S)-11alpha,15-Dihydroxy-9-oxoprosta-5,13-dienoate|dinoprostone|Prostin|Prepidil 0 C20H32O5 InChI=1S/C20H32O5/c1-2-3-6-9-15(21)12-13-17-16(18(22)14-19(17)23)10-7-4-5-8-11-20(24)25/h4,7,12-13,15-17,19,21,23H,2-3,5-6,8-11,14H2,1H3,(H,24,25)/b7-4-,13-12+/t15-,16+,17+,19+/m0/s1 XEYBRNLFEZDVAW-ARSRFYASSA-N 352.471 352.22497 CCCCC[C@H](O)\C=C\[C@H]1[C@H](O)CC(=O)[C@@H]1C\C=C/CCCC(O)=O CAS:363-24-6|PMID:33958485|PMID:12746806|DrugBank:DB00917|Patent:DE2011969|PMID:74611|PMID:7224729|Patent:NL6505799|Patent:GB851827|PMID:34065827|Beilstein:2224724|PMID:33715333|PMID:33685091|PMID:16978535|PMID:33782420|LIPID_MAPS_instance:LMFA03010003|PMID:14535055|PMID:16405508|Reaxys:2224724|PMID:20671299|PMID:14499495|PMID:34102274|PMID:6317292|PDBeChem:P2E|LINCS:LSM-42919|PMID:16787416|KEGG:D00079|Wikipedia:Prostaglandin_E2|PMID:9276764|PMID:2403792|PMID:33559528|FooDB:FDB022498|Patent:US3598858|PMID:24501112|KEGG:C00584|PMID:33811074|PMID:11279302|PMID:32898608|HMDB:HMDB0001220|PMID:7836930|PMID:34071686|PMID:15661432|PMID:14703707|PMID:15542928|PMID:33271839|PMID:12859290|Drug_Central:913 CHEBI:10910|CHEBI:114125|CHEBI:8512|CHEBI:4625|CHEBI:26323|CHEBI:10911 chebi_ontology owl:Class CHEBI:26338 biolink:NamedThing prostaglandins E tmpxe7fu0cj_hp_relaxed.owl PGE 0 C5H6O2R2 98.09990 98.03678 O[C@@H]1CC(=O)[C@H]([*])[C@H]1[*] chebi_ontology owl:Class HP:0030817 biolink:NamedThing Beaked nails Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280752 Beaked nails may be observed with conditions including hyperparathyroidism, renal failure, psoriasis, and systemic sclerosis. owl:Class CHEBI:26347 biolink:NamedThing prostanoid The family of natural prostaglandins and prostaglandin-like compounds including prostacyclins and thromboxanes. tmpxe7fu0cj_hp_relaxed.owl prostanoids|prostanoid chebi_ontology owl:Class CHEBI:23899 biolink:NamedThing icosanoid Any member of the group of signalling molecules arising from oxidation of the three C20 essential fatty acids (EFAs) icosapentaenoic acid (EPA), arachidonic acid (AA) and dihomo-gamma-linolenic acid (DGLA). tmpxe7fu0cj_hp_relaxed.owl eicosanoids|icosanoids|eicosanoid|icosanoid PMID:19160658|Wikipedia:Eicosanoid|PMID:2657063|PMID:16107763|LIPID_MAPS_class:LMFA03|PMID:12697726 chebi_ontology owl:Class GO:2000292 biolink:NamedThing regulation of defecation Any process that modulates the frequency, rate or extent of defecation. tmpxe7fu0cj_hp_relaxed.owl bf 2010-12-21T09:23:08Z biological_process owl:Class HP:0012569 biolink:NamedThing Delayed menarche First period after the age of 15 years. tmpxe7fu0cj_hp_relaxed.owl Delayed start of first period UMLS:C0949173 peter 2014-01-08T08:20:18Z human_phenotype owl:Class HP:0000140 biolink:NamedThing Abnormality of the menstrual cycle An abnormality of the ovulation cycle. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the menstrual cycle|Menstrual abnormalities UMLS:C4025888|UMLS:C3549779 human_phenotype owl:Class HP:0025410 biolink:NamedThing Splenogonadal fusion Joining of the spleen and a gonad during embryological development. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 10:58:17+00:00 The spleen is located in close proximitiy to the gonads during early embryological development, which may facilitate fusion. Splenogonadal fusion may be divided into continuous or discontinuous types, with the gonad being directly attached to the spleen in the continuous type . The discontinuous type consists of gonadal fusion with an accessory spleen or ectopic splenic tissue. HPO:probinson owl:Class HP:0025455 biolink:NamedThing Decreased CSF 5-hydroxyindolacetic acid CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal. tmpxe7fu0cj_hp_relaxed.owl Low CSF 5-HIAA|Decreased CSF 5-HIAA|Low CSF 5-hydroxyindolacetic acid 2017-05-05 10:26:09+00:00 HPO:probinson owl:Class GO:0070174 biolink:NamedThing negative regulation of enamel mineralization Any process that stops, prevents, or reduces the frequency, rate or extent of enamel mineralization, the deposition of calcium salts in tooth enamel. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0070173 biolink:NamedThing regulation of enamel mineralization Any process that modulates the frequency, rate or extent of enamel mineralization, the deposition of calcium salts in tooth enamel. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0008281 biolink:NamedThing Acute hyperammonemia An increased concentration of ammonia in the blood with sudden onset. tmpxe7fu0cj_hp_relaxed.owl Hyperammonemia, acute UMLS:C1859506 human_phenotype owl:Class HP:0001987 biolink:NamedThing Hyperammonemia An increased concentration of ammonia in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood ammonia levels UMLS:C0220994|MSH:D022124|SNOMEDCT_US:9360008 HP:0008334|HP:0008308 human_phenotype owl:Class GO:0043207 biolink:NamedThing response to external biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0014790 biolink:NamedThing lingual septum The lingual septum consists of a vertical layer of fibrous tissue, extending throughout the entire length of the median plane of the tongue, though not quite reaching the dorsum. It is thicker behind than in front, and occasionally contains a small fibrocartilage, about 6 mm. in length. It is well displayed by making a vertical section across the organ. tmpxe7fu0cj_hp_relaxed.owl tongue septum|septum of tongue|median fibrous septum Wikipedia:Lingual_septum|FMA:54813|SCTID:368727001|EMAPA:18274 uberon owl:Class UBERON:0001756 biolink:NamedThing middle ear The middle ear is the air-filled cavity within the skull of vertebrates that lies between the outer ear and the inner ear. It is linked to the pharynx (and therefore to outside air) via the Eustachian tube and in mammals contains the three ear ossicles, which transmit auditory vibrations from the outer ear (via the tympanum) to the inner ear (via the oval window)[GO]. tmpxe7fu0cj_hp_relaxed.owl auris media EHDAA2:0001181|MESH:D004432|XAO:0000191|BTO:0002099|EMAPA:17000|FMA:56513|MIAA:0000146|VHOG:0000312|NCIT:C12274|EHDAA:5693|CALOHA:TS-2233|BIRNLEX:1695|AAO:0011065|OpenCyc:Mx4rvbw1j5wpEbGdrcN5Y29ycA|MAT:0000146|MA:0000253|GAID:165|EV:0100357|UMLS:C1268972|UMLS:C0013455 uberon owl:Class The intermediate portion of the ear which consists of a small air-filled and membrane-lined chamber. It is lodged in the temporal bone and continues with the nasopharynx through the Eustachian tube. It is separated from the external ear by the tympanic membrane and from the inner ear by the fenestrae. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] The tympanic cavity and auditory tube of an amniote develop from the first embryonic pharyngeal pouch, so they are homologous to the first gill pouch, or spiracle, of a fish. We are uncertain whether this homology strictly applies to the middle ear cavity and auditory tube of lissamphibians, which show certain peculiarities in their development.[uncertain][VHOG] GO:0051964 biolink:NamedThing negative regulation of synapse assembly Any process that stops, prevents, or reduces the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse. tmpxe7fu0cj_hp_relaxed.owl negative regulation of synapse biogenesis|negative regulation of synaptogenesis|down-regulation of synapse assembly|inhibition of synapse assembly|downregulation of synapse assembly|down regulation of synapse assembly biological_process owl:Class GO:1901463 biolink:NamedThing regulation of tetrapyrrole biosynthetic process Any process that modulates the frequency, rate or extent of tetrapyrrole biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl regulation of tetrapyrrole synthesis|regulation of tetrapyrrole biosynthesis|regulation of tetrapyrrole formation|regulation of tetrapyrrole anabolism tt 2012-10-02T14:34:14Z biological_process owl:Class GO:1901401 biolink:NamedThing regulation of tetrapyrrole metabolic process Any process that modulates the frequency, rate or extent of tetrapyrrole metabolic process. tmpxe7fu0cj_hp_relaxed.owl regulation of tetrapyrrole metabolism tt 2012-10-01T14:34:03Z biological_process owl:Class HP:0033523 biolink:NamedThing Abnormal sperm principal piece morphology A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece. tmpxe7fu0cj_hp_relaxed.owl 2021-01-14 13:15:10+00:00 peter owl:Class HP:0012868 biolink:NamedThing Abnormal sperm tail morphology A structural abnormality of the sperm tail. tmpxe7fu0cj_hp_relaxed.owl Sperm tail anomaly UMLS:C4022699 The ultrastructure of the mammalian flagellum is highly conserved and is structurally divided into four major parts: the connecting piece, the mid piece, the principal piece, and the end piece. The axoneme extends from the remnant of the centriole attached to the implantation fossa of the nucleus and is the core structure along the length of the sperm tail. Defective sperm flagella are the principal cause of sperm motility disorders. hecht 2014-06-09T10:50:50Z owl:Class HP:0010198 biolink:NamedThing Osteolytic defects of the middle phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023974 doelkens 2009-05-29T01:53:35Z human_phenotype owl:Class UBERON:0004915 biolink:NamedThing sphincter of hepatopancreatic ampulla Muscular valve that controls the flow of digestive juices (bile and pancreatic juice) through the ampulla of Vater into the second part of the duodenum. Relaxed by the hormone Cholecystokinin (CCK) via vasoactive intestinal polypeptide (VIP).[WP]. tmpxe7fu0cj_hp_relaxed.owl musculus sphincter ampullae hepatopancreatica|sphincter of Oddi|hepatopancreatic ampullary sphincter|musculus sphincter ampullae|Oddi's sphincter|sphincter of ampulla of vater NCIT:C13065|GAID:285|MESH:A03.159.183.079.300.900.600|FMA:15077|UMLS:C0028872|EMAPA:18663 http://upload.wikimedia.org/wikipedia/commons/4/43/Gray1057.png uberon owl:Class HP:0006332 biolink:NamedThing Supernumerary maxillary incisor The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor. tmpxe7fu0cj_hp_relaxed.owl Extra upper front tooth UMLS:C4025062 human_phenotype owl:Class HP:0011069 biolink:NamedThing Supernumerary tooth The presence of one or more teeth additional to the normal number. tmpxe7fu0cj_hp_relaxed.owl Supernumerary teeth|Increased number of teeth|More teeth than normal|Hyperdontia|Supplemental dentition|Supernumary teeth|Supernumary dentition|Increased tooth count|Tooth, supernumerary|Supplemental teeth|Extra teeth UMLS:C0040457|SNOMEDCT_US:266414008|MSH:D014096|SNOMEDCT_US:8666004|SNOMEDCT_US:367534004 Age-related physiological sequential eruption should be taken into account during evaluation. The type and the location of the additional tooth/teeth should be added to the description. Supernumerary teeth are uncommon (in 0.21% of deciduous dentitions and in 0.9% of permanent dentitions), and often abnormal positioning of a normal number of teeth is wrongly classified as supernumerary teeth. Supernumerary teeth are most frequent in the upper maxilla, and typically, a single additional tooth is present. We discourage the use of distodens, distomolars (an extra fourth molar posterior to the third molar), paramolars (supernumerary tooth in the molar region) but rather to mention the presence of the supernumerary tooth mesial to or distal to a tooth from the normal series. Diagnosing a supernumerary tooth may require radiographic examination. A supernumerary tooth present between the maxillary central incisors is called mesiodens. peter 2011-03-10T02:52:19Z HP:0000672 owl:Class CHEBI:50160 biolink:NamedThing steroid acid anion Any anion formed by loss of a proton from a steroid acid. tmpxe7fu0cj_hp_relaxed.owl steroid acid anions chebi_ontology owl:Class HP:0025042 biolink:NamedThing Abnormality of mesenteric lymph nodes A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery. tmpxe7fu0cj_hp_relaxed.owl 2016-09-25 14:21:49+00:00 HPO:probinson owl:Class HP:0007831 biolink:NamedThing Nonprogressive restrictive external ophthalmoplegia Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024789 HP:0007682 human_phenotype owl:Class HP:0000544 biolink:NamedThing External ophthalmoplegia Paralysis of the external ocular muscles. tmpxe7fu0cj_hp_relaxed.owl CPEO|Progressive paralysis or weakness of muscles of eye motility|Ophthalmoplegia externa|Paralysis or weakness of muscles within or surrounding outer part of eye|Chronic progressive external ophthalmoplegia|Progressive paralysis or weakness of muscles of eye movement UMLS:C0162674|MSH:D017246|MSH:D009886|SNOMEDCT_US:46252003|SNOMEDCT_US:19373007|UMLS:C0162292 HP:0007762 human_phenotype owl:Class HP:0002006 biolink:NamedThing Facial cleft A congenital malformation with a cleft (gap or opening) in the face. tmpxe7fu0cj_hp_relaxed.owl Facial clefts|Facial cleft|Cleft of the face|Tessier facial cleft UMLS:C0685787|SNOMEDCT_US:92821006 The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations. human_phenotype owl:Class UBERON:0014889 biolink:NamedThing left hemisphere of cerebellum A cerebellar hemisphere that is in_the_left_side_of a cerebellum. tmpxe7fu0cj_hp_relaxed.owl FMA:83877 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0002245 biolink:NamedThing cerebellar hemisphere A paired regions of the cerebellum that lie outside and lateral to the central vermis[MP]. The cerebellum consists of three parts, a median and two lateral, which are continuous with each other, and are substantially the same in structure. The median portion is constricted, and is called the vermis, from its annulated appearance which it owes to the transverse ridges and furrows upon it; the lateral expanded portions are named the hemispheres. The lateral hemisphere is considered the portion of the cerebellum to develop most recently. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl hemispherium cerebelli|hemisphere of cerebellum [H II - H X]|hemispherium cerebelli [hII-hX]|cerebellum hemisphere|hemisphere of cerebellum|hemispherium cerebelli [H II - H X]|cerebellar hemisphere|cerebellar hemispheres DHBA:10659|NCIT:C32726|DMBA:16920|EMAPA:35218|HBA:12930|UMLS:C0228465|MBA:1073|BAMS:CH|BIRNLEX:1575|MA:0000200|FMA:76925 http://upload.wikimedia.org/wikipedia/commons/4/43/CerebellumDiv.png uberon owl:Class HP:0100229 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the innermost bone of the little toe|Irregular end part of the innermost bone of the pinky toe|Irregular end part of the innermost bone of the pinkie toe UMLS:C4022192 doelkens 2010-06-24T05:04:53Z human_phenotype owl:Class GO:0070454 biolink:NamedThing negative regulation of heme biosynthetic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of heme. tmpxe7fu0cj_hp_relaxed.owl inhibition of heme biosynthetic process|negative regulation of heme formation|down-regulation of heme biosynthetic process|negative regulation of heme synthesis|negative regulation of haem biosynthetic process|negative regulation of heme anabolism|negative regulation of heme biosynthesis|downregulation of heme biosynthetic process|down regulation of heme biosynthetic process biological_process owl:Class HP:0011095 biolink:NamedThing Overjet An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure. tmpxe7fu0cj_hp_relaxed.owl Protrusion of the maxillary incisors|Upper teeth sticking out forward|Buck teeth|Abnormality of horizontal incisor relationship|Protrusion of upper teeth in front of lower teeth MSH:D057887|SNOMEDCT_US:251292006|SNOMEDCT_US:70305005|UMLS:C0596028 peter 2011-03-11T05:15:43Z human_phenotype owl:Class GO:0031122 biolink:NamedThing cytoplasmic microtubule organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures formed of microtubules and associated proteins in the cytoplasm of a cell. tmpxe7fu0cj_hp_relaxed.owl cytoplasmic microtubule organisation|cytoplasmic microtubule organization and biogenesis biological_process owl:Class HP:0031710 biolink:NamedThing Compensatory head tilt to the left shoulder A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement. tmpxe7fu0cj_hp_relaxed.owl 2017-12-18 00:33:44+00:00 With fourth cranial nerve palsy leading to weakness of the superior oblique muscle, affected persons tilt the head away from the affected eye as both eyes are most straight in this position. peter owl:Class HP:0031371 biolink:NamedThing Rectal perforation A hole (perforation) in the wall of the rectum. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 01:31:51+00:00 peter owl:Class HP:0031368 biolink:NamedThing Intestinal perforation A hole (perforation) in the wall of the intestine. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 01:23:22+00:00 peter owl:Class GO:0003206 biolink:NamedThing cardiac chamber morphogenesis The process in which a cardiac chamber is generated and organized. A cardiac chamber is an enclosed cavity within the heart. tmpxe7fu0cj_hp_relaxed.owl heart chamber morphogenesis dph 2009-10-13T09:14:51Z biological_process owl:Class UBERON:0018595 biolink:NamedThing lower central primary incisor tooth A lower primary incisor tooth that is in_the_central_side_of a dentition. tmpxe7fu0cj_hp_relaxed.owl lower central deciduous incisor tooth|lower primary tooth A|deciduous lower central incisor tooth FMA:84218 uberon owl:Class UBERON:0018601 biolink:NamedThing lower central incisor tooth An incisor tooth that is in_the_central_side_of a dentition and is part of a lower jaw region. tmpxe7fu0cj_hp_relaxed.owl lower central incisor|mandibular central incisor FMA:290182 uberon owl:Class UBERON:0000012 biolink:NamedThing somatic nervous system Part of peripheral nervous system that includes the somatic parts of the cranial and spinal nerves and their ganglia and the peripheral sensory receptors. tmpxe7fu0cj_hp_relaxed.owl somatic nervous system, somatic division|somatic part of peripheral nervous system|PNS - somatic|somatic peripheral nervous system Wikipedia:Somatic_nervous_system|FMA:9904|EFO:0000892|MA:0002850|MIAA:0000099|MAT:0000099|NLXANAT:100301 uberon owl:Class HP:0040025 biolink:NamedThing Clinodactyly of the 4th finger tmpxe7fu0cj_hp_relaxed.owl Curvature of ring finger UMLS:C4022484|UMLS:C4280295 HPO:skoehler owl:Class HP:0009273 biolink:NamedThing Deviation of the 4th finger Displacement of the 4th finger from its normal position. tmpxe7fu0cj_hp_relaxed.owl Deviation of the ring finger UMLS:C4024477 doelkens 2009-01-07T04:03:23Z human_phenotype owl:Class GO:0097576 biolink:NamedThing vacuole fusion Merging of two or more vacuoles, or of vacuoles and vesicles within a cell to form a single larger vacuole. tmpxe7fu0cj_hp_relaxed.owl pr 2014-02-28T09:49:31Z biological_process owl:Class GO:0007033 biolink:NamedThing vacuole organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vacuole. tmpxe7fu0cj_hp_relaxed.owl vacuole organization and biogenesis|vacuolar assembly|vacuole biogenesis|vacuole organisation GO:0044086 biological_process owl:Class HP:0030948 biolink:NamedThing Elevated gamma-glutamyltransferase level Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. tmpxe7fu0cj_hp_relaxed.owl Elevated serum GGT 2017-01-13 21:20:27+00:00 Gamma-glutamyl transferase (GGT) is elevated with most liver diseases and with bile duct damage. Its main clinical use is in the evaluation of patients with isolated elevation in alkaline phosphatase (which can be of hepatic or bone origin). However, there are extrahepatic causes of GGT elevation including pancreatitis, prostate carcinoma, breast carcinoma, lung carcinoma, systemic lupus erythematosus, and congestive heart failure. robinp owl:Class HP:0000222 biolink:NamedThing Gingival hyperkeratosis Hyperkeratosis of the gingiva. tmpxe7fu0cj_hp_relaxed.owl Hyperkeratosis, gingival UMLS:C1857013 The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. HP:0007539 human_phenotype owl:Class GO:0003013 biolink:NamedThing circulatory system process A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Circulatory_system biological_process owl:Class HP:0007661 biolink:NamedThing Abnormality of chorioretinal pigmentation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024819 human_phenotype owl:Class HP:0030741 biolink:NamedThing Mediastinal teratoma A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs). tmpxe7fu0cj_hp_relaxed.owl Teratoma of the mediastinum NCIT:C6438|UMLS:C1334682 owl:Class HP:0009792 biolink:NamedThing Teratoma The presence of a teratoma. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3403|UMLS:C0039538|MSH:D013724|SNOMEDCT_US:55818009 Teratomas are germ-cell tumors commonly composed of multiple cell types derived from one or more of the three germ layers. They derive from embryonic pluripotent cells and may have various degrees of maturation, according to which they are classified as mature, immature, and malignant. Teratomas are found with decreasing frequency in the ovaries and testis, mediastinum, retroperitoneal space, sacrococcygeal zone, pineal and other intracranial locations. peter 2009-02-03T05:23:03Z human_phenotype owl:Class CHEBI:23639 biolink:NamedThing deoxy sugar Any sugar having a hydroxy group replaced with a hydrogen atom. tmpxe7fu0cj_hp_relaxed.owl deoxysugar|deoxy sugars|deoxysugars chebi_ontology owl:Class HP:0040072 biolink:NamedThing Abnormality of forearm bone tmpxe7fu0cj_hp_relaxed.owl Abnormality of forearm bone UMLS:C4022452 HPO:skoehler owl:Class GO:0090274 biolink:NamedThing positive regulation of somatostatin secretion Any process that increases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. tmpxe7fu0cj_hp_relaxed.owl tb 2010-02-05T02:54:14Z biological_process owl:Class HP:0008250 biolink:NamedThing Infantile hypercalcemia tmpxe7fu0cj_hp_relaxed.owl MSH:C562999|UMLS:C0475732|SNOMEDCT_US:276645004 human_phenotype owl:Class HP:0003072 biolink:NamedThing Hypercalcemia An abnormally increased calcium concentration in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased calcium in blood|Hypercalcaemia|High blood calcium levels SNOMEDCT_US:66931009|SNOMEDCT_US:166702002|UMLS:C0020437|MSH:D006934 human_phenotype owl:Class HP:0000207 biolink:NamedThing Triangular mouth The presence of a triangular form of the mouth. tmpxe7fu0cj_hp_relaxed.owl Triangular mouth|Triangular shaped oral aperture|Triangular shaped mouth UMLS:C1849341 human_phenotype owl:Class GO:0006023 biolink:NamedThing aminoglycan biosynthetic process The chemical reactions and pathways resulting in the formation of aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages. tmpxe7fu0cj_hp_relaxed.owl aminoglycan formation|aminoglycan anabolism|aminoglycan synthesis|aminoglycan biosynthesis biological_process owl:Class NBO:0002436 biolink:NamedThing regulation of feeding behavior "Any process that modulates the frequency, rate or extent of consumption of food or liquid" [NBOC:GVG] tmpxe7fu0cj_hp_relaxed.owl George Gkoutos owl:Class UBERON:0001648 biolink:NamedThing vestibulocochlear nerve Cranial nerve that transmits sound and equilibrium (balance) information from the inner ear to the brain. tmpxe7fu0cj_hp_relaxed.owl eighth cranial nerve|nervus vestibulocochlearis|VIIIth cranial nerve|cranial nerve VIII|vestibulocochlear nerve tree|acoustic nerve|nervus statoacusticus|vestibulocochlear nerve [VIII]|nervus vestibulocochlearis [viii]|CN-VIII|cochleovestibular nerve|8n|vestibulocochlear VIII nerve|VIII nerve|statoacoustic nerve|acoustic VIII nerve|cochlear-vestibular nerve|stato-acoustic nerve|octaval nerve|acoustic nerve (Crosby)|nervus octavus ZFA:0000247|BAMS:VIIIn|XAO:0003095|BIRNLEX:890|GAID:839|EMAPA:17801|HBA:9331|UMLS:C0001162|BAMS:nVIII|MESH:D000159|FMA:50869|MA:0001109|OpenCyc:Mx4rvVjMFZwpEbGdrcN5Y29ycA|BTO:0003490|TAO:0000247|UMLS:C1278835|AAO:0010473|MBA:933|BAMS:8n|NCIT:C12996|VHOG:0000695|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=553|EHDAA2:0002194 http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray789.png uberon owl:Class Nerve primarily composed of special somatic afferent fibers innervating the inner ear, and is involved in balance, position, and hearing.[AAO] We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...) (reference 1); Phylogenetically, the cranial nerves are thought to have evolved from dorsal and ventral nerves of a few anterior spinal nerves that became incorporated into the braincase. Dorsal and ventral nerves fuse in the trunk but not in the head, and they produce two series: dorsal cranial nerves (V, VII, IX, and X) and ventral cranial nerves (III, IV, VI, and XIII) (reference 2).[well established][VHOG] HP:0006611 biolink:NamedThing Decreased number of sternal ossification centers A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms. tmpxe7fu0cj_hp_relaxed.owl Decreased number of sternal ossification centres UMLS:C1856223 human_phenotype owl:Class UBERON:0002103 biolink:NamedThing hindlimb A (free) limb that is connected to a pelvic girdle region. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pelvic girdle and its parts. tmpxe7fu0cj_hp_relaxed.owl membrum inferius|lower limb|hind limb|hindlimb|inferior member|pelvic appendage|lower extremity|free part of lower limb|hind-limb|free lower limb GAID:38|NCIT:C12742|MIAA:0000395|EFO:0000883|GAID:1221|MAT:0000395|AAO:0000219|CALOHA:TS-2215|EV:0100015|MA:0000026|MESH:D006614|EHDAA:6094|BTO:0002345|FMA:24879|VHOG:0000337|UMLS:C1522391|galen:LowerExtremity|UMLS:C0023216|EMAPA:17458|EHDAA2:0001033|XAO:0003031|NCIT:C77625|VSAO:0000150 http://upload.wikimedia.org/wikipedia/commons/d/dc/Gray1239.png uberon owl:Class Lower limb, which connects the pes with the pelvic girdle.[AAO] Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] crural note that this corresponds to FMA:'free lower limb' (a limb segment), NOT 'lower limb'. Both MA and FMA consider shoulder (and shoulder bones) part of upper limb. Note that AAO class probably refers to skeleton UBERON:0004709 biolink:NamedThing pelvic appendage Paired appendage that consists of the posterior appendicular skeleton and associated soft and hard tissues, but excludes the pelvic girdle and its associated soft and hard tissues. tmpxe7fu0cj_hp_relaxed.owl posterior paired appendage|pelvic limb/fin|pelvic appendage|posterior limb/fin|hindlimb/pelvic fin|posterior appendage VSAO:0000126 UBERON:0009876 uberon owl:Class HP:0100200 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the innermost bone of the 4th toe UMLS:C4022221 doelkens 2010-06-24T04:54:59Z human_phenotype owl:Class HP:0100096 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the innermost bone of the 4th toe UMLS:C4022325 doelkens 2010-06-24T10:02:24Z human_phenotype owl:Class HP:0011098 biolink:NamedThing Speech apraxia A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. tmpxe7fu0cj_hp_relaxed.owl Apraxia of speech|Verbal dyspraxia|Speech dyspraxia SNOMEDCT_US:74227009|SNOMEDCT_US:361277007|UMLS:C0264611|UMLS:C0349391|SNOMEDCT_US:361276003|MSH:D001072 Speech apraxia may co-occur with oral apraxia and limb apraxia. peter 2011-05-15T08:57:11Z owl:Class HP:0002186 biolink:NamedThing Apraxia A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. tmpxe7fu0cj_hp_relaxed.owl Apraxias SNOMEDCT_US:6950007|UMLS:C0003635|SNOMEDCT_US:68345001|MSH:D001072 owl:Class UBERON:0003828 biolink:NamedThing abdominal segment bone A bone that is part of an abdominal segment of trunk [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bone organ of abdominal segment of trunk|abdominal segment of trunk bone organ|abdominal segment of trunk bone|bone of abdominal segment of trunk EMAPA:37058|MA:0000525 uberon owl:Class HP:0410067 biolink:NamedThing Increased level of L-fucose in urine An increase in the level of L-fucose in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-01-29 22:55:21+00:00 Fucose is a hexose deoxy sugar with the chemical formula C6H12O5. ORCID:0000-0001-5208-3432 owl:Class UBERON:8300001 biolink:NamedThing right forelimb A forelimb that is on the right side of a pectoral complex. tmpxe7fu0cj_hp_relaxed.owl FMA:7185 http://orcid.org/0000-0001-9897-3238 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0011575 biolink:NamedThing styloid process of ulna The styloid process of the ulna projects from the medial and back part of the bone; it descends a little lower than the head, and its rounded end affords attachment to the ulnar collateral ligament of the wrist[WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl ulnar styloid process|processus styloideus ulnae FMA:23628 uberon owl:Class GO:0030263 biolink:NamedThing apoptotic chromosome condensation The compaction of chromatin during apoptosis. tmpxe7fu0cj_hp_relaxed.owl pyknosis Wikipedia:Pyknosis biological_process owl:Class GO:0030261 biolink:NamedThing chromosome condensation The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. tmpxe7fu0cj_hp_relaxed.owl DNA condensation|nuclear chromosome condensation|eukaryotic chromosome condensation GO:0000068 biological_process owl:Class HP:0003384 biolink:NamedThing Peripheral axonal atrophy Atrophic changes of axons of the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025619 This finding is typically demonstrated by nerve biopsy. human_phenotype owl:Class HP:0000764 biolink:NamedThing Peripheral axonal degeneration Progressive deterioration of peripheral axons. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025830 This finding is typically demonstrated by nerve biopsy. HP:0006787|HP:0006876|HP:0007304 human_phenotype owl:Class HP:0031512 biolink:NamedThing Abnormal cutaneous collagen fibril morphology tmpxe7fu0cj_hp_relaxed.owl 2017-09-22 01:31:38+00:00 An anomaly of the collagen fibers located in the skin. peter owl:Class HP:0100030 biolink:NamedThing Accessory ectopic thyroid tissue Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022385 While the accessory thyroid tissue may be functional, it is generally insufficient for normal function if the main thyroid gland is entirely removed. doelkens 2010-06-10T10:25:46Z human_phenotype owl:Class UBERON:0009122 biolink:NamedThing adenohypophyseal placode The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary. tmpxe7fu0cj_hp_relaxed.owl pituitary placode TAO:0001198|ZFA:0001198|EFO:0000229|XAO:0004208 consider adding more detailed spatial placement - e.g. oral ectoderm and/or rostal ectoderm uberon owl:Class Fate-mapping studies in amphibian, chick and mouse embryos (Eagleson et al., 1986; 1995; Couly and Le Douarin, 1985; Cobos et al., 2001; Osumi-Yamachita et al., 1994; Kawamura et al., 2002) have shown that the cells contributing to the adenohypophysis develop at the midline of the anterior neural ridge, which delineates the rostral boundary of the neural plate, a region devoid of neural crest. The anterior neural ridge also gives rise to the olfactory placodes and some forebrain tissues including the olfactory bulbs (reviewed in Papalopulu, 1995). Ablation of this region in chick embryos at the 2-4 somite stage confirmed these lineage analyses as it prevented formation of Rathke's pouch and any further pituitary development (elAmraoui and Dubois, 1993). Upon head folding, the oral ectoderm cells of the adenohypophyseal placode invaginate towards the prospective ventral diencephalon to form Rathke's pouch, the anlage of the adenohypophysis. Rathke's pouch starts as an invagination of the oral ectoderm in response to inductive signals from the prospective diencephalon. The region of the diencephalon above the pouch is known as the infundibulum and forms the posterior lobe of the pituitary or neurohypohysis (Figure 3). While in most basal fish and tetrapods the adenohypophyseal anlagen invaginates to form Rathke's pouch, in teleost fish the adenohypophyseal placode does not invaginate but rather maintains its initial organization forming a solid structure in the head (reviewed in Pogoda and Hammerschmidt; 2009) UBERON:0011814 biolink:NamedThing non-neurogenic ectodermal placode Ectodermal placode that does not develop into a component of the nervous system. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0034758 biolink:NamedThing positive regulation of iron ion transport Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl stimulation of iron ion transport|positive regulation of iron transport|up regulation of iron ion transport|activation of iron ion transport|upregulation of iron ion transport|up-regulation of iron ion transport biological_process owl:Class HP:0031226 biolink:NamedThing Perinephric fluid collection An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 12:16:46+00:00 peter owl:Class GO:0009617 biolink:NamedThing response to bacterium Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. tmpxe7fu0cj_hp_relaxed.owl response to bacteria GO:0009680|GO:0009618 biological_process owl:Class HP:0000713 biolink:NamedThing Agitation A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:24199005|UMLS:C0085631 human_phenotype owl:Class HP:0000711 biolink:NamedThing Restlessness A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress. tmpxe7fu0cj_hp_relaxed.owl Restlessness UMLS:C3887611|SNOMEDCT_US:162221009 human_phenotype owl:Class HP:0031167 biolink:NamedThing Triggered by ingestion of potassium-rich food Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium. tmpxe7fu0cj_hp_relaxed.owl Triggered by ingestion of K-rich food|Potassium-rich food triggered symptoms 2017-06-18 19:18:01+00:00 In contrast to paramyotonia congenita or hyperkalaemic periodic paralysis, potassium-aggravated myotonias (PAM) patients show no muscle weakness and hardly any cold sensitivity. However, they show an aggravation of their myotonia after ingestion of potassium, which distinguishes them from patients with chloride channelopathies. peter owl:Class HP:0033793 biolink:NamedThing Triggered by food ingestion Applies to a sign or symptom that is provoked or brought about by eating a certain food. tmpxe7fu0cj_hp_relaxed.owl 2021-05-07 17:28:49+00:00 peter owl:Class HP:0005792 biolink:NamedThing Short humerus Underdevelopment of the humerus. tmpxe7fu0cj_hp_relaxed.owl Short upper arms|Hypoplastic humerus|Short humeri|Short humerus|Humeral hypoplasia|Humeral shortening|Short long bone of upper arm UMLS:C1832117 HP:0006464|HP:0003064|HP:0003014|HP:0002989|HP:0006419|HP:0006468 human_phenotype owl:Class UBERON:0013241 biolink:NamedThing embryonic urethral groove The precursor of the urethra. tmpxe7fu0cj_hp_relaxed.owl sulcus urethralis primarius|urethral sulcus|urethral groove uberon owl:Class In humans, the urethral groove is a temporary linear indentation on the underside (ventral side) of the male penis during embryonic development. It typically appears around 8 weeks of gestation and becomes closed into a normal male urethra by the 12th week HP:0012647 biolink:NamedThing Abnormal inflammatory response Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. tmpxe7fu0cj_hp_relaxed.owl Abnormal inflammatory response UMLS:C4022805 peter 2014-02-01T01:25:42Z human_phenotype owl:Class HP:0031250 biolink:NamedThing Lip fissure A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 15:27:51+00:00 peter owl:Class GO:0023057 biolink:NamedThing negative regulation of signaling Any process that stops, prevents, or reduces the frequency, rate or extent of a signaling process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of signalling process|negative regulation of signaling process 2010-02-16T09:30:50Z biological_process owl:Class HP:0033713 biolink:NamedThing Anti-signal recognition particle antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle. tmpxe7fu0cj_hp_relaxed.owl Anti-SRP antibody positivity 2021-04-07 11:44:02+00:00 peter owl:Class HP:0012215 biolink:NamedThing Testicular microlithiasis The deposition of calcium phosphate microliths within the seminiferous tubules. tmpxe7fu0cj_hp_relaxed.owl MSH:C566478|SNOMEDCT_US:117261000119108|UMLS:C1864873 peter 2013-03-14T08:07:36Z human_phenotype owl:Class GO:0006865 biolink:NamedThing amino acid transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl GO:0006866 biological_process owl:Class GO:0071705 biolink:NamedThing nitrogen compound transport The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl mah 2010-03-08T03:56:28Z biological_process owl:Class HP:0011341 biolink:NamedThing Long upper lip Increased width of the upper lip. tmpxe7fu0cj_hp_relaxed.owl Long upper lip|Increased vertical length of upper lip|Increased height of upper lip|Elongation of upper lip UMLS:C3151495 peter 2012-02-26T01:58:08Z human_phenotype owl:Class HP:0000177 biolink:NamedThing Abnormality of upper lip An abnormality of the upper lip. tmpxe7fu0cj_hp_relaxed.owl Malformation of the upper lip|Abnormality of upper lip|Anomaly of the upper lip|Deformity of the upper lip UMLS:C4025884 human_phenotype owl:Class HP:0030194 biolink:NamedThing Fatigable weakness of speech muscles A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022589 owl:Class HP:0030192 biolink:NamedThing Fatigable weakness of bulbar muscles A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022591 owl:Class GO:0003248 biolink:NamedThing heart capillary growth The increase in heart capillaries that accompanies physiological hypertrophy of cardiac muscle. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T11:53:12Z biological_process owl:Class HP:0100148 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the middle bone of the 3rd toe UMLS:C4022273 doelkens 2010-06-24T10:24:13Z human_phenotype owl:Class HP:0100057 biolink:NamedThing Cone-shaped epiphyses of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the 3rd toe bone UMLS:C4022364 doelkens 2010-06-24T09:58:55Z human_phenotype owl:Class UBERON:0009559 biolink:NamedThing metacarpal/tarsal-phalangeal joint A skeletal joint that connects a mesopodium bone and connects a proximal phalanx. tmpxe7fu0cj_hp_relaxed.owl metapodial-phalangeal joint|fetlock|metapodium-phalanx joint|metacarpo-tarsophalangeal joint We include these joints as being part of the digits; this is consistent with the FMA, and makes classification easier. Note that digit and metapodial regions are part-disjoint uberon owl:Class GO:0061194 biolink:NamedThing taste bud morphogenesis The process in which the anatomical structures of the taste bud are generated and organized. The taste bud is a specialized area of the tongue that contains taste receptors. tmpxe7fu0cj_hp_relaxed.owl dph 2010-07-27T11:01:31Z biological_process owl:Class HP:0004425 biolink:NamedThing Flat forehead A forehead with abnormal flatness. tmpxe7fu0cj_hp_relaxed.owl Frontal flattening|Flat forehead|Flattened forehead UMLS:C1857485 peter 2008-03-18T09:41:00Z HP:0004659 human_phenotype owl:Class HP:0001978 biolink:NamedThing Extramedullary hematopoiesis The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. tmpxe7fu0cj_hp_relaxed.owl Extramedullary erythropoiesis UMLS:C2613439|UMLS:C1292120|SNOMEDCT_US:124958002|SNOMEDCT_US:42952007 During fetal life, the formation of cellular blood components occurs mainly in the liver, shifting to the bone marrow postnatally. SOme pathological conditions associated with a severe reduction of marrow hematopoiesis are associated with extramedullary hematopoiesis. HP:0004847 human_phenotype owl:Class HP:0001871 biolink:NamedThing Abnormality of blood and blood-forming tissues An abnormality of the hematopoietic system. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the hematopoietic system|Hematological abnormality|Abnormality of the haematopoietic system|Hematologic disease|Haematological abnormality|Abnormality of blood and blood-forming tissues SNOMEDCT_US:34093004|MSH:D006402|UMLS:C4020864|UMLS:C0018939|SNOMEDCT_US:191124002|UMLS:C0850715 The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes. HP:0003135 owl:Class HP:0010027 biolink:NamedThing Broad 1st metacarpal Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Wide 1st long bone of hand UMLS:C4024097 doelkens 2009-05-27T04:24:30Z human_phenotype owl:Class UBERON:0005311 biolink:NamedThing mammary placode The mammary placode is a transient lens shaped structure that will give rise to the mammary bud proper[GO]. tmpxe7fu0cj_hp_relaxed.owl mammary anlage EMAPA:35541 TODO develops_from uberon owl:Class in mouse, five pairs of symmetrically positioned mammary placodes (three thoracic and two inguinal) form at reproducible locations along the mammary line at E11.5; the individual pairs develop asynchronously and in a distinct order; pair 3 is first, followed by pair 4, then by pairs 1 and 5 (which develop together), and finally by pair 2; the orientation of placodal cells is not uniform, suggesting that placodes are formed by migration of cells from the mammary line; between E11.5 and E12.5, each mammary placode expands and invaginates into the underlying mesenchyme to form an early bulb-shaped mammary bud[MP] HP:0025584 biolink:NamedThing Hypotropia A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 19:39:59+00:00 HPO:probinson owl:Class HP:0005856 biolink:NamedThing Ulnar radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction. tmpxe7fu0cj_hp_relaxed.owl Ulnar dislocation of radial heads UMLS:C4021619 human_phenotype owl:Class HP:0003083 biolink:NamedThing Dislocated radial head A dislocation of the head of the radius from its socket in the elbow joint. tmpxe7fu0cj_hp_relaxed.owl Radial head dislocation|Radial head dislocation/subluxation|Dislocated radius|Dislocated radial heads|Dislocation of the radial head|Congenital radial head dislocation|Dislocation of radial head|Radial dislocation SNOMEDCT_US:9634000|UMLS:C0265563 HP:0005673|HP:0005836|HP:0002975 human_phenotype owl:Class HP:0002444 biolink:NamedThing Hypothalamic hamartoma The presence of a hamartoma of the hypothalamus. tmpxe7fu0cj_hp_relaxed.owl MSH:C537158|SNOMEDCT_US:237714006|UMLS:C0342418 Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to grey matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency. human_phenotype owl:Class HP:0009731 biolink:NamedThing Cerebral hamartoma The presence of a hamartoma of the cerebrum. tmpxe7fu0cj_hp_relaxed.owl Cerebral hamartomata UMLS:C4024218 Hamartomatous lesions (benign focal lesions composed of disorganized tissue elements) affecting and sometimes originating from the cerebrum. peter 2009-01-31T11:02:09Z human_phenotype owl:Class HP:0000815 biolink:NamedThing Hypergonadotropic hypogonadism Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. tmpxe7fu0cj_hp_relaxed.owl Primary hypogonadism|Hypergonadotrophic hypogonadism UMLS:C0948896|MSH:D007006|SNOMEDCT_US:370999003 HP:0008679 human_phenotype owl:Class HP:0000135 biolink:NamedThing Hypogonadism A decreased functionality of the gonad. tmpxe7fu0cj_hp_relaxed.owl Decreased activity of gonads SNOMEDCT_US:48130008|UMLS:C0020619|MSH:D007006 Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. owl:Class GO:0005604 biolink:NamedThing basement membrane A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. tmpxe7fu0cj_hp_relaxed.owl basement lamina|basal lamina|lamina densa Wikipedia:Basement_membrane Note that this term has no relationship to 'membrane ; GO:0016020' because the basement membrane is not a lipid bilayer. GO:0005605|GO:0008003 cellular_component owl:Class GO:0062023 biolink:NamedThing collagen-containing extracellular matrix An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. tmpxe7fu0cj_hp_relaxed.owl dph 2018-04-13T12:47:21Z cellular_component owl:Class GO:0017085 biolink:NamedThing response to insecticide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insecticide stimulus. Insecticides are chemicals used to kill insects. tmpxe7fu0cj_hp_relaxed.owl insecticide susceptibility/resistance|insecticide resistance biological_process owl:Class GO:0009636 biolink:NamedThing response to toxic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. tmpxe7fu0cj_hp_relaxed.owl toxin resistance|detoxification response|toxin susceptibility/resistance biological_process owl:Class GO:0043244 biolink:NamedThing regulation of protein-containing complex disassembly Any process that modulates the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. tmpxe7fu0cj_hp_relaxed.owl regulation of protein complex disassembly biological_process owl:Class HP:0002156 biolink:NamedThing Homocystinuria An increased concentration of homocystine in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine homocystine levels SNOMEDCT_US:11282001|UMLS:C0019880|MSH:D006712 Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency. human_phenotype owl:Class HP:0033095 biolink:NamedThing Increased sulfur amino acid level in urine An elevated level of a sulfur-containing amino acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased sulfur-containing amino acid level in urine|Increased sulphur amino acid level in urine peter owl:Class UBERON:0006909 biolink:NamedThing lumen of digestive tract An anatomical space that surrounded_by a digestive tract. tmpxe7fu0cj_hp_relaxed.owl digestive tract lumen|gut lumen|gut cavity|lumen of alimentary tract|lumen of gut|lumen of digestive tract BTO:0000349|FMA:45677|EMAPA:32908 uberon owl:Class UBERON:0007269 biolink:NamedThing pectoral appendage musculature Any collection of muscles that is part of a pectoral appendage. tmpxe7fu0cj_hp_relaxed.owl pectoral fin muscle|pectoral fin musculature ZFA:0000563|TAO:0000563|EFO:0003540 currently defined by location rather than attachment uberon owl:Class PR:000001785 biolink:NamedThing prominin A protein with core architecture consisting of one Prominin (Pfam:PF05478) domain. The prominins are an emerging family of proteins that, among the multispan membrane proteins, display a novel topology. Mouse and human prominin and prominin-like 1 are predicted to contain five membrane spanning domains, with an N-terminal domain exposed to the extracellular space followed by four, alternating small cytoplasmic and large extracellular, loops and a cytoplasmic C-terminal domain. tmpxe7fu0cj_hp_relaxed.owl PIRSF:PIRSF017831|PANTHER:PTHR22730 Category=family. protein owl:Class GO:2001251 biolink:NamedThing negative regulation of chromosome organization Any process that stops, prevents or reduces the frequency, rate or extent of chromosome organization. tmpxe7fu0cj_hp_relaxed.owl negative regulation of chromosome organisation|negative regulation of nuclear genome maintenance|negative regulation of chromosome organization and biogenesis|negative regulation of maintenance of genome integrity yaf 2011-12-02T02:01:20Z biological_process owl:Class HP:0000676 biolink:NamedThing Abnormality of the incisor An abnormality of the Incisor tooth. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025833 HP:0006340 human_phenotype owl:Class CHEBI:33635 biolink:NamedThing polycyclic compound tmpxe7fu0cj_hp_relaxed.owl polycyclic compounds chebi_ontology owl:Class CHEBI:33595 biolink:NamedThing cyclic compound Any molecule that consists of a series of atoms joined together to form a ring. tmpxe7fu0cj_hp_relaxed.owl cyclic compounds Wikipedia:Cyclic_compound chebi_ontology owl:Class UBERON:0011823 biolink:NamedThing dense connective tissue Dense connective tissue is mainly composed of collagen type I. Crowded between the collagen fibers are rows of fibroblasts, fiber-forming cells, that manufacture the fibers. Dense connective tissue forms strong, rope-like structures such as tendons and ligaments. Tendons attach skeletal muscles to bones; ligaments connect bones to bones at joints. Ligaments are more stretchy and contain more elastic fibers than tendons. Dense connective tissue also make up the lower layers of the skin (dermis), where it is arranged in sheets. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1511770|AAO:0000121|Wikipedia:Dense_connective_tissue|NCIT:C32450 our OWL definition states that this is differentiated from other connective tissue types by virtue of the fact that the collage fiber component predominates, as opposed to cells and fluid. uberon owl:Class Connective tissue in which the fibrous component predominates. The cells, ground substance, and tissue fluid represent a minor component[NCIT] HP:0032484 biolink:NamedThing Elevated fecal sodium An elevated concentration of sodium in feces. tmpxe7fu0cj_hp_relaxed.owl Elevated faecal sodium 2019-04-11 11:38:39+00:00 peter owl:Class HP:0100780 biolink:NamedThing Conjunctival hamartoma A hamartoma (disordered proliferation of mature tissues) of the conjunctiva. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021849 doelkens 2011-06-07T05:50:21Z human_phenotype owl:Class UBERON:0010212 biolink:NamedThing laryngeal apparatus Apparatus located between the lungs and the buccal cavity. This apparatus is composed of a pair of arytenoid cartilages that are supported by the cricoid ring. tmpxe7fu0cj_hp_relaxed.owl laryngeal cartilage system AAO:0000267|EHDAA2:0000904 check this. See also https://github.com/obophenotype/uberon/wiki/The-axial-skeleton uberon owl:Class HP:0025295 biolink:NamedThing Herpetiform Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections. tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 16:19:13+00:00 HPO:probinson owl:Class UBERON:0013191 biolink:NamedThing ovarian cortex The layer of the ovarian stroma lying immediately beneath the tunica albuginea, composed of connective tissue cells and fibers, among which are scattered primary and secondary (antral) follicles in various stages of development; the cortex varies in thickness according to the age of the individual, becoming thinner with advancing years; included in the follicles are the cumulus oophorus, membrana granulosa (and the granulosa cells inside it), corona radiata, zona pellucida, and primary oocyte; the zona pellucida, theca of follicle, antrum and liquor folliculi are also contained in the follicle; also in the cortex is the corpus luteum derived from the follicles. tmpxe7fu0cj_hp_relaxed.owl cortex ovarii (zona parenchymatosa)|cortex of ovary FMA:18613|EMAPA:37927|UMLS:C0227878|NCIT:C33243 uberon owl:Class HP:0032132 biolink:NamedThing Decreased circulating total IgG A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. tmpxe7fu0cj_hp_relaxed.owl 2018-11-22 14:04:50+00:00 Reductions in total IgG levels in adolescents or adults may be classified as mild-moderate (300-600 mg/dL), significant (100-299 mg/dL), or profoundly reduced (less than 100 mg/dL). In adolescents and adults, a total immunoglobulin (IgG + IgM + IgA) level greater than 600 mg/dL, with confirmed normal antibody responses, probably excludes humoral deficiency. Total immunoglobulin levels of 400 to 600 mg/dL or IgG levels of 200 to 400 mg/dL may contain adequate amounts of antibody; this becomes less likely if total immunoglobulin levels are less than 400 mg/dL or serum IgG levels are less than 200 mg/dL. peter owl:Class HP:0004315 biolink:NamedThing Decreased circulating IgG level An abnormally decreased level of immunoglobulin G (IgG) in blood. tmpxe7fu0cj_hp_relaxed.owl Decreased serum IgG|Reduced IgG levels|IgG deficiency|Decreased IgG level in blood|Decreased immunoglobulin G|Decreased gamma-globin expression|Decreased IgG level MSH:D017099|SNOMEDCT_US:190981001|SNOMEDCT_US:123785006|UMLS:C0162539 peter 2008-02-20T03:43:00Z HP:0003289|HP:0005394|HP:0008325|HP:0008340|HP:0003294 human_phenotype owl:Class GO:0050765 biolink:NamedThing negative regulation of phagocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of phagocytosis. tmpxe7fu0cj_hp_relaxed.owl downregulation of phagocytosis|down regulation of phagocytosis|down-regulation of phagocytosis|inhibition of phagocytosis biological_process owl:Class GO:0050764 biolink:NamedThing regulation of phagocytosis Any process that modulates the frequency, rate or extent of phagocytosis, the process in which phagocytes engulf external particulate material. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0032513 biolink:NamedThing Four-vessel umbilical cord Four-vessel umbilical cord containing two arteries and two veins. tmpxe7fu0cj_hp_relaxed.owl 2019-05-23 23:25:42+00:00 A normal umbilical cord contains two umbilical arteries and one umbilical vein. peter owl:Class HP:0011403 biolink:NamedThing Abnormal umbilical cord blood vessel morphology tmpxe7fu0cj_hp_relaxed.owl Abnormal umbilical cord blood vessels UMLS:C4023372 peter 2012-03-15T11:05:13Z owl:Class HP:0033014 biolink:NamedThing Decreased salivary cortisol level Abnormally reduced concentration of cortisol in saliva. tmpxe7fu0cj_hp_relaxed.owl Literature suggests that saliva may provide a more sensitive measure of cortisol than serum or plasma. peter owl:Class HP:0011479 biolink:NamedThing Abnormal lacrimal punctum morphology An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the lacrimal punctum UMLS:C4023337 peter 2012-04-01T09:08:05Z human_phenotype owl:Class UBERON:0004259 biolink:NamedThing lower arm blood vessel A blood vessel that is part of a lower arm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl forelimb zeugopod blood vessel MA:0000597|EMAPA:37295 uberon owl:Class UBERON:0003507 biolink:NamedThing arm blood vessel A blood vessel that is part of an arm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of arm EMAPA:37293|MA:0000591 uberon owl:Class UBERON:0012481 biolink:NamedThing cloacal epithelium An epithelium that is part of a cloaca. tmpxe7fu0cj_hp_relaxed.owl cloacal endoderm ZFA:0005783|EMAPA:27577|EMAPA:36070 uberon owl:Class cloacal epithelium (cle) (syn: cloacal endoderm) (TS17-TS20): the cloacal epithelium is derived from endoderm and lines the cloacal cavity. It is marked by Shh and Cdh1 and lines the cloacal lumen. The cloacal epithelium gives rise to the urogenital sinus epithelium, hindgut epithelium and the urethral plate epithelium. HP:0003866 biolink:NamedThing Coarse humeral trabeculae tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025544 human_phenotype owl:Class HP:0006983 biolink:NamedThing Slowly progressive spastic quadriparesis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024955 human_phenotype owl:Class HP:0030106 biolink:NamedThing Absent muscle fiber beta sarcoglycan Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Absent muscle fibre beta sarcoglycan UMLS:C4022639 owl:Class HP:0030103 biolink:NamedThing Abnormal muscle fiber beta sarcoglycan Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre beta sarcoglycan UMLS:C4022642 owl:Class HP:0033643 biolink:NamedThing Increased circulating very long-chain fatty acid concentration Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons. tmpxe7fu0cj_hp_relaxed.owl Increased plasma levels of very long-chain fatty acid 2021-02-24 12:39:07+00:00 peter owl:Class UBERON:0001461 biolink:NamedThing elbow The elbow is the region surrounding the elbow-joint-the ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific]. tmpxe7fu0cj_hp_relaxed.owl elbow region|articulatio cubiti|elbow limb segment|cubital region EFO:0003069|MA:0000036|galen:Elbow|EHDAA2:0000429|VHOG:0000340|CALOHA:TS-2222|FMA:24901|MESH:D004550|EHDAA:6212|GAID:54|EMAPA:17414|OpenCyc:Mx4rvVjjNZwpEbGdrcN5Y29ycA|EHDAA:4166 Elbow:coude.JPG uberon owl:Class cubital Naming conventions for pod terms under discussion within phenoscape group UBERON:0002529 biolink:NamedThing limb segment A major subdivision of a mature or developing limb, including both skeletal elements (or the mesenchyme that gives rise to the skeletal elements) and associated tissues, such as muscle, connective tissue, integument. Examples: autopod region, zeugopod region, stylopod region, metapodial region, arm region. Excludes the limb girdles. tmpxe7fu0cj_hp_relaxed.owl limb region|segment of limb|extremity part|subdivision of limb|free limb segment|region of limb NCIT:C38630|UMLS:C1268195|MA:0002889|FMA:241863 TODO - align this with the CARO2 class 'appendage segment'; note the FMA class does not appear to require repetition uberon owl:Class FMA has both limb segment and free limb segment, the former includes the girdles. Note that MA uses the term more generally and includes A,S,Z,S+Z(arm/leg), whereas FMA is just A,S,Z UBERON:0008461 biolink:NamedThing postzygapophysis of lumbar vertebra An postzygapophysis that is part of a lumbar vertebra. tmpxe7fu0cj_hp_relaxed.owl caudal articular process of lumbar vertebra|inferior articular process of lumbar vertebra FMA:16127 uberon owl:Class UBERON:0001080 biolink:NamedThing postzygapophysis Paired processes at the caudal end of the neural arch. The articular facets of the postzygapophyses face lateroventrally and articulate with the dorsomedially facing facets of the prezygapophyses of the succeeding vertebra. tmpxe7fu0cj_hp_relaxed.owl neural postzygopophyses|processus obliquus posterior|vertebra caudal articular process|neural postzygapophysis|processus articularis inferior|postzygapophysis|caudal articular process of vertebra|processus articularis inferior vertebrae|neural postzygapophyses|neural postzygopophysis|inferior articular process of vertebra|zygapophysis inferior MA:0001451|TAO:0000681|AAO:0000702|FMA:11954|EMAPA:35918|ZFA:0000681 Posteriorly projecting processes allowing de facto contact between consecutive vertebrae (some soft tissues are also present) via articular facets. [PHENOSCAPE:NI] uberon owl:Class Paired, dorsomedially directed processes on the posterior ends of the centra, ligamentously joined to the neural prezygapophyses of the immediately posterior vertebra.[TAO] UBERON:0011110 biolink:NamedThing humeroulnar joint The humeroulnar joint, is part of the elbow-joint or the Olecron Joint, between the ulna and humerus bones is the simple hinge-joint, which allows for movements of flexion, extension and circumduction. The Humero-Ulnar Joint is the junction of trochlear notch of the ulna and the trochlea of the humerus. Owing to the obliquity of the trochlea of the humerus, this movement does not take place in the antero-posterior plane of the body of the humerus. When the forearm is extended and supinated, the axis of the arm and forearm are not in the same line; the arm forms an obtuse angle with the forearm. During flexion, however, the forearm and the hand tend to approach the middle line of the body, and thus enable the hand to be easily carried to the face. The accurate adaptation of the trochlea of the humerus, with its prominences and depressions, to the semilunar notch of the ulna, prevents any lateral movement. Flexion is produced by the action of the Biceps brachii and Brachialis, assisted by the Brachioradialis, with a tiny contribution from the muscles arising from the medial epicondyle of the humerus. Extension is produced by the Triceps brachii and AnconC&us, with a tiny contribution from the muscles arising from the lateral epicondyle of the humerus, such as the Extensor digitorum communis. tmpxe7fu0cj_hp_relaxed.owl humero-ulnar joint|articulatio humeroulnaris FMA:38854 http://upload.wikimedia.org/wikipedia/commons/9/97/Gray329.png uberon owl:Class HP:0033341 biolink:NamedThing Elevated circulating sitosterol concentration An increased concentration of beta-sitosterol in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating beta-sitosterol concentration 2020-11-30 12:46:27+00:00 Sitosterol (also known as beta-sitosterol) is a phytosterols with a chemical structure similar to that of cholesterol. peter owl:Class HP:0003119 biolink:NamedThing Abnormal circulating lipid concentration Any deviation from the normal concentration of a lipid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Dyslipidemia|Dyslipidaemia UMLS:C4025650|MSH:D050171|SNOMEDCT_US:370992007|UMLS:C0242339 According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. HP:0003611 owl:Class HP:0031128 biolink:NamedThing Impaired collagen-related peptide-induced platelet aggregation Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 12:32:18+00:00 peter owl:Class HP:0003540 biolink:NamedThing Impaired platelet aggregation An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. tmpxe7fu0cj_hp_relaxed.owl Platelet aggregation defect|Deficient platelet aggregation|Defective platelet aggregation UMLS:C1855853 HP:0008177 human_phenotype owl:Class UBERON:0006311 biolink:NamedThing chamber of eyeball A segment of the eyeball that is filled with refractive media. tmpxe7fu0cj_hp_relaxed.owl eyeball chamber|chamber of eye|eye chamber MA:0002459|FMA:58071|BTO:0002085|NCIT:C32301|UMLS:C0459556|EMAPA:37529|SCTID:280540004 uberon owl:Class HP:0006045 biolink:NamedThing Short pointed phalanges tmpxe7fu0cj_hp_relaxed.owl Short pointed digital bones UMLS:C1849740 human_phenotype owl:Class HP:0009803 biolink:NamedThing Short phalanx of finger Short (hypoplastic) phalanx of finger, affecting one or more phalanges. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic phalanges of hands|Hypoplastic phalanges|Short phalanges|Short finger bones|Phalangeal hypoplasia|Shortened phalanges|Rudimentary phalanges|Hypoplastic/small phalanges of the hand UMLS:C0877165 doelkens 2009-02-12T05:57:11Z HP:0005771|HP:0006087|HP:0001168|HP:0006126 human_phenotype owl:Class UBERON:0001142 biolink:NamedThing left renal vein A renal vein that drains the left kidney. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37166|MA:0002211|OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rvdUXKJwpEbGdrcN5Y29ycA|FMA:14336|NCIT:C52693|UMLS:C0508001 http://upload.wikimedia.org/wikipedia/commons/7/76/Gray1122.png uberon owl:Class A vein that drains blood from the left kidney into the inferior vena cava[ncithesaurus]. UBERON:0001140 biolink:NamedThing renal vein Either of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava. tmpxe7fu0cj_hp_relaxed.owl vein of kidney|renal venous tree|venae renales|kidney vein EHDAA2:0001602|galen:RenalVein|FMA:14334|EHDAA:8722|MA:0002210|UMLS:C0035092|EMAPA:28376|GAID:544|NCIT:C33462|BTO:0002681|MESH:D012082|OpenCyc:Mx4rvdUXKJwpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/7/76/Gray1122.png uberon owl:Class The renal veins are veins that drain the kidney. They connect the kidney to the inferior vena cava. It is usually singular to each kidney, except in the condition 'multiple renal veins'. It also divides into 2 divisions upon entering the kidney: the anterior branch which receives blood from the anterior portion of the kidney and, the posterior branch which receives blood from the posterior portion. Often, each renal vein will have a branch that receives blood from the ureter. [WP,unvetted][Wikipedia:Renal_vein]. in EHDAA2, the renal vein is part of the kidney GO:0055018 biolink:NamedThing regulation of cardiac muscle fiber development Any process that modulates the frequency, rate or extent of cardiac muscle fiber development. tmpxe7fu0cj_hp_relaxed.owl regulation of heart muscle fiber development|regulation of cardiac muscle fibre development biological_process owl:Class HP:0030867 biolink:NamedThing Vertical orbital dystopia The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other. tmpxe7fu0cj_hp_relaxed.owl Misaligned eyes|Unequal eye height|Eyes at different heights SNOMEDCT_US:253243008|UMLS:C0431460 owl:Class HP:0100886 biolink:NamedThing Abnormality of globe location An abnormality in the placement of the ocular globe (eyeball). tmpxe7fu0cj_hp_relaxed.owl Abnormality of globe position|Abnormality of eyeball position|Abnormality of eyeball location UMLS:C4021946 doelkens 2011-12-13T04:25:29Z human_phenotype owl:Class UBERON:0001832 biolink:NamedThing sublingual gland The small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland. tmpxe7fu0cj_hp_relaxed.owl sublingual salivary gland|submaxillary gland|Rivinus' gland|glandula sublingualis|ductus sublingualis|Rivinus gland EMAPA:18809|CALOHA:TS-0987|VHOG:0000363|GAID:941|NCIT:C12234|FMA:59791|MESH:D013361|MA:0001588|UMLS:C0038553|BTO:0001315|EV:0100062 http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray1024.png uberon owl:Class One of a pair of small salivary glands situated under the mucous membrane of the floor of the mouth, beneath the tongue. [TFD][VHOG] Most mammals have well-developed parotid, mandibular, and sublingual glands.[well established][VHOG] Single lobed in mouse; largest acini of the 3 rodent salivary glands. In human and mouse, secretions are predominantly mucinous UBERON:0003677 biolink:NamedThing tooth root The part of a tooth that is implanted in the gum; the root is normally located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone. tmpxe7fu0cj_hp_relaxed.owl radix corona|tooth root|root of tooth MESH:A14.254.900.750|FMA:55624|EMAPA:37975|GAID:1280 uberon owl:Class HP:0001234 biolink:NamedThing Hitchhiker thumb With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand. tmpxe7fu0cj_hp_relaxed.owl Hitchhiker thumb|Abducted thumb UMLS:C1857269 The condition known as "hitchhiker's thumb" means, that the distal phalanx of the thumb, when the thumb is extended (as in a "thumbs-up"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending. human_phenotype owl:Class UBERON:0010681 biolink:NamedThing pedal digit 2 phalanx cartilage element A cartilage element that is part of a pedal digit 2 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl hind limb digit 2 phalanx cartilage condensation|foot digit 2 phalanx cartilage element|pedal digit II phalanx cartilage element EMAPA:18112 uberon owl:Class UBERON:0010685 biolink:NamedThing pedal digit phalanx cartilage element A cartilage element that is part of a pedal digit mesenchyme. tmpxe7fu0cj_hp_relaxed.owl foot digit phalanx cartilage element|hind limb digit phalanx cartilage condensation EMAPA:32948 uberon owl:Class HP:0025394 biolink:NamedThing Cystic pattern on pulmonary HRCT On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema. tmpxe7fu0cj_hp_relaxed.owl 2017-04-22 13:03:59+00:00 HPO:probinson owl:Class HP:0025389 biolink:NamedThing Pulmonary interstitial high-resolution computed tomography abnormality High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. tmpxe7fu0cj_hp_relaxed.owl Pulmonary interstitiatial HRCT abnormality 2017-04-22 12:46:42+00:00 HPO:probinson owl:Class PR:000001969 biolink:NamedThing urokinase plasminogen activator surface receptor A protein that is a translation product of the human PLAUR gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl uPAR|MO3|PLAUR|CD87|UPAR|monocyte activation antigen Mo3|U-PAR PIRSF:PIRSF002022 Category=gene. Requested by=CL. protein owl:Class PR:000050185 biolink:NamedThing Ig lambda light chain protein (human) An Ig lambda light chain protein that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl hIgLambda Category=organism-gene. Note: The lambda light chain locus is described by https://www.genenames.org/cgi-bin/genefamilies/set/353. protein owl:Class HP:0002132 biolink:NamedThing Porencephalic cyst A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. tmpxe7fu0cj_hp_relaxed.owl Cavity within brain UMLS:C4082173|MSH:D065708 Porencephaly is usually the result of damage from stroke or infection after birth, but may also be the result of a developmental defect. Porencephaly is often associated with various ophthalmic and neurologic signs, including visual-field defects, abnormal pupillary responses, optic nerve hypoplasia, decreased vision, nystagmus, strabismus, hemi-inattention, seizures, and mental deficiencies. human_phenotype owl:Class UBERON:0019042 biolink:NamedThing reproductive system mucosa tmpxe7fu0cj_hp_relaxed.owl genital mucosa BTO:0002439 uberon owl:Class HP:0002510 biolink:NamedThing Spastic tetraplegia Spastic paralysis affecting all four limbs. tmpxe7fu0cj_hp_relaxed.owl Spastic quadriplegia UMLS:C0426970|SNOMEDCT_US:192965001|MSH:D011782 HP:0001280 owl:Class CHEBI:25094 biolink:NamedThing lysine A diamino acid that is caproic (hexanoic) acid bearing two amino substituents at positions 2 and 6. tmpxe7fu0cj_hp_relaxed.owl LYS|alpha,epsilon-diaminocaproic acid|2,6-diaminohexanoic acid|K|Lysin|lysine 0 C6H14N2O2 InChI=1S/C6H14N2O2/c7-4-2-1-3-5(8)6(9)10/h5H,1-4,7-8H2,(H,9,10) KDXKERNSBIXSRK-UHFFFAOYSA-N 146.18764 146.10553 NCCCCC(N)C(O)=O Reaxys:1616991|Wikipedia:Lysine|CAS:70-54-2|KEGG:C16440|Beilstein:1616991|PMID:17439666|Gmelin:279284|PMID:22264337 chebi_ontology owl:Class CHEBI:35987 biolink:NamedThing diamino acid Any amino acid carrying two amino groups. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0030187 biolink:NamedThing Titubation Nodding movement of the head or body. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:78691002|UMLS:C0231690 owl:Class CHEBI:30839 biolink:NamedThing orotate tmpxe7fu0cj_hp_relaxed.owl orotate|2,6-dioxo-1,2,3,6-tetrahydropyrimidine-4-carboxylate -1 C5H3N2O4 InChI=1S/C5H4N2O4/c8-3-1-2(4(9)10)6-5(11)7-3/h1H,(H,9,10)(H2,6,7,8,11)/p-1 PXQPEWDEAKTCGB-UHFFFAOYSA-M 155.08830 155.00983 [O-]C(=O)c1cc(=O)[nH]c(=O)[nH]1 CAS:73-97-2|Beilstein:3651747|Gmelin:464718 CHEBI:14698|CHEBI:25719 chebi_ontology owl:Class CHEBI:38316 biolink:NamedThing pyrimidinecarboxylate anion tmpxe7fu0cj_hp_relaxed.owl pyrimidinecarboxylate anions chebi_ontology owl:Class HP:0008998 biolink:NamedThing Pectoralis hypoplasia Underdevelopment of the pectoral muscle. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped pec muscle|Small pec muscle|Hypoplastic pectoral muscle UMLS:C1846477 human_phenotype owl:Class HP:0005258 biolink:NamedThing Pectoral muscle hypoplasia/aplasia tmpxe7fu0cj_hp_relaxed.owl Small/absent pec muscle|Underdeveloped/absent pec muscle UMLS:C4025226 human_phenotype owl:Class UBERON:0004509 biolink:NamedThing skeletal muscle tissue of trapezius A portion of skeletal muscle tissue that is part of a trapezius [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl skeletal muscle tissue of trapezius muscle FMA:261938 uberon owl:Class GO:0042435 biolink:NamedThing indole-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of compounds that contain an indole (2,3-benzopyrrole) skeleton. tmpxe7fu0cj_hp_relaxed.owl indole derivative biosynthetic process|indole-containing compound anabolism|indole-containing compound formation|indole-containing compound synthesis|indole-containing compound biosynthesis|indole derivative biosynthesis biological_process owl:Class HP:0030627 biolink:NamedThing Foveal hyporeflective spaces on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073097 owl:Class HP:0031781 biolink:NamedThing Microtropia with identity A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC. tmpxe7fu0cj_hp_relaxed.owl 2018-01-28 11:42:09+00:00 peter owl:Class HP:0031724 biolink:NamedThing Microtropia A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 14:16:59+00:00 peter owl:Class HP:0500070 biolink:NamedThing Conjunctival dermolipoma A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. tmpxe7fu0cj_hp_relaxed.owl 2018-02-26 17:48:12+00:00 ORCID:0000-0001-7941-2961 owl:Class GO:0048308 biolink:NamedThing organelle inheritance The partitioning of organelles between daughter cells at cell division. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0011246 biolink:NamedThing Underdeveloped superior crus of antihelix Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic superior crus of antihelix|Hypotrophic superior crus of antihelix UMLS:C4021189 This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately. peter 2011-12-18T12:00:18Z human_phenotype owl:Class HP:0011245 biolink:NamedThing Abnormality of superior crus of antihelix An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. tmpxe7fu0cj_hp_relaxed.owl Abnormality of posterior crus of antihelix UMLS:C4021190 The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix. peter 2011-12-18T11:52:06Z human_phenotype owl:Class HP:0100482 biolink:NamedThing Proximal/middle symphalangism of 5th toe Bony fusion of the middle and proximal phalanges of the 5th toe. tmpxe7fu0cj_hp_relaxed.owl Symphalangism of the middle and proximal phalanges of the 5th toe|Fused innermost and middle little toe bones|Fused innermost and middle pinky toe bones|Fused innermost and middle pinkie toe bones UMLS:C4020973 human_phenotype owl:Class HP:0100472 biolink:NamedThing Symphalangism affecting the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Fused middle bones of 5th toe UMLS:C4022055 human_phenotype owl:Class GO:0032682 biolink:NamedThing negative regulation of chemokine production Any process that stops, prevents, or reduces the frequency, rate, or extent of chemokine production. tmpxe7fu0cj_hp_relaxed.owl downregulation of chemokine production|inhibition of chemokine production|down regulation of chemokine production|negative regulation of chemokine biosynthetic process|down-regulation of chemokine production|negative regulation of chemokine secretion 2009-12-18T11:28:00Z GO:0045079|GO:0090198 biological_process owl:Class GO:1903487 biolink:NamedThing regulation of lactation tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0050878 biolink:NamedThing regulation of body fluid levels Any process that modulates the levels of body fluids. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0030247 biolink:NamedThing polysaccharide binding Binding to a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. tmpxe7fu0cj_hp_relaxed.owl polysaccharide assembly with MHC class II protein complex GO:0002506 molecular_function owl:Class CL:0002033 biolink:NamedThing short term hematopoietic stem cell A hematopoietic stem cell capable of rapid replenishment of myeloerythroid progenitors and limited self renewal capability. This cell is Kit-positive, Sca1-positive, CD34-positive, CD150-positive, and is Flt3-negative. tmpxe7fu0cj_hp_relaxed.owl ST-HSC|ST stem cell Markers are associated with mouse cells. These cells are also reportedly CD11b-low and CD90-low. tmeehan 2010-01-08T09:19:25Z cell owl:Class CL:0001008 biolink:NamedThing Kit and Sca1-positive hematopoietic stem cell A hematopoietic stem cell that has plasma membrane part Kit-positive, SCA-1-positive, CD150-positive and CD34-negative. tmpxe7fu0cj_hp_relaxed.owl Sca1-positive hematopoietic stem cell|LSK stem cell Cell markers are associated with mouse hematopoietic stem cell. Originally described in the dendritic cell ontology (DC_CL:0000043)(PMID:19243617). cell owl:Class HP:0009503 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 2nd finger An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the outermost bone of the index finger UMLS:C4024327 doelkens 2009-01-16T01:11:04Z human_phenotype owl:Class HP:0009489 biolink:NamedThing Bracket epiphyses of the 2nd finger An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket-epiphyses of index finger|Bracket shaped end part of index finger UMLS:C4021466 doelkens 2009-01-16T01:07:16Z HP:0004109 human_phenotype owl:Class CL:0000575 biolink:NamedThing corneal epithelial cell An epithelial cell of the cornea. tmpxe7fu0cj_hp_relaxed.owl epithelial cell of cornea FMA:70551|BTO:0004298|CALOHA:TS-0173 CL:1000431 cell owl:Class HP:0002353 biolink:NamedThing EEG abnormality Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. tmpxe7fu0cj_hp_relaxed.owl Abnormal EEG|Electroencephalogram abnormal|EEG abnormalities|Abnormal electroencephalogram|Electroencephalogram abnormalities SNOMEDCT_US:274521009|UMLS:C0151611 HP:0006841|HP:0001346|HP:0002429 human_phenotype owl:Class UBERON:0005402 biolink:NamedThing philtrum The vertical groove found on the median line of the upper lip, extending to the nose. tmpxe7fu0cj_hp_relaxed.owl philtral region of upper lip|medial cleft|infranasal depression|lip philtrum VHOG:0000862|EMAPA:17926|EHDAA2:0001462|FMA:59819|MA:0001577|EHDAA:9280 uberon owl:Class vestigial in humans. In humans, the philtrum is formed where the nasomedial and maxillary processes meet during embryonic development (colloquially known as Hulse lines). When these processes fail to fuse fully in humans, a cleft lip (sometimes called a 'hare lip') can result. A flattened or smooth philtrum can be a symptom of fetal alcohol syndrome or Prader-Willi syndrome HP:0030841 biolink:NamedThing Toe pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe. tmpxe7fu0cj_hp_relaxed.owl Toe pain SNOMEDCT_US:285365001|UMLS:C0241416 owl:Class UBERON:0006566 biolink:NamedThing left ventricle myocardium A myocardium that is part of a left ventricle of a heart. tmpxe7fu0cj_hp_relaxed.owl myocardium of left ventricle|left ventricular myocardium FMA:9558|MA:0002983|EMAPA:17339|SCTID:362021000 uberon owl:Class Myocardium of ventricle which is continuous with the tunica media of aorta. CHEBI:15440 biolink:NamedThing squalene tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:35191 biolink:NamedThing triterpene tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0009444 biolink:NamedThing Patchy sclerosis of 3rd finger phalanx Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger. tmpxe7fu0cj_hp_relaxed.owl Patchy sclerosis of the phalanges of the 3rd finger|Uneven increase in bone density in middle finger bone|Patchy sclerosis of middle finger phalanges UMLS:C4021471 doelkens 2009-01-14T04:09:01Z HP:0004160 human_phenotype owl:Class UBERON:0008447 biolink:NamedThing intertarsal joint Intertarsal articulations are the joints of the tarsus. The specific intertarsal articulations are: Talocalcaneal articulation Talocalcaneonavicular articulation Calcaneocuboid articulation Cuneonavicular articulation Cuboideonavicular articulation Intercuneiform articulation Cuneocuboid articulation. tmpxe7fu0cj_hp_relaxed.owl articulationes intertarseae|tarsal joint|intertarsal articulation|tarsal joints|intermetatarsal joint|intertarsal joint|intertarsal|articulationes intertarsales|articulationes intertarsale FMA:44281|NCIT:C33735|UMLS:C1527245|GAID:259|MA:0003112|EMAPA:37762|MESH:D013640 http://upload.wikimedia.org/wikipedia/commons/5/5f/Gray360.png uberon owl:Class CL:0000031 biolink:NamedThing neuroblast (sensu Vertebrata) A cell that will develop into a neuron often after a migration phase. tmpxe7fu0cj_hp_relaxed.owl neuroblast BTO:0000930|FMA:70563 CL:0000337 cell owl:Class UBERON:0003859 biolink:NamedThing forelimb mesenchyme Mesenchyme that is part of a developing forelimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of superior member|upper extremity mesenchyme|anteriormost limb mesenchyme|wing mesenchyme|mesenchyme of forelimb|mesenchyme of anteriormost limb|mesenchyme of upper extremity|fore limb mesenchyme|superior member mesenchyme|mesenchyme of fore limb VHOG:0001109|EMAPA:32628 uberon owl:Class UBERON:0002084 biolink:NamedThing heart left ventricle A cardiac ventricle that is in the left side of the heart. tmpxe7fu0cj_hp_relaxed.owl left ventricle|left cardiac ventricle|cardiac left ventricle|left ventricle of heart|ventriculus sinister cordis EMAPA:17337|Wikipedia:Left_ventricle|OpenCyc:Mx4rtW8v46gEEdudWQACs5b6Bw|VHOG:0000718|galen:LeftVentricle|UMLS:C0225897|BTO:0001629|FMA:7101|EHDAA2:0002178|OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rvVjj1pwpEbGdrcN5Y29ycA|MA:0000092|CALOHA:TS-0439|NCIT:C12871|SCTID:244385005 http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg uberon owl:Class Thick-walled muscular chamber constituting the left border and apex of the heart. It receives oxygenated blood from the left atrium through the mitral orifice and send it off into the aorta. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] The vertebrate heart initially forms as a tube from a population of precursor cells termed the first heart field (FHF). Cells from the adjacent second heart field (SHF) are then progressively added to the developing heart. In avian and mammalian hearts, the FHF contributes mainly to the left ventricle, whereas the SHF gives rise to the outflow tract and large portions of the right ventricle and atria. Both fields arise from common mesodermal progenitors, although the detailed lineage relationships between FHF and SHF remain uncertain.[well established][VHOG] https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern In mammals continuous with aorta UBERON:0002082 biolink:NamedThing cardiac ventricle Cardiac chamber through which blood leaves the heart. tmpxe7fu0cj_hp_relaxed.owl ventricle|lower chamber of heart|heart ventricle|ventricle of heart EFO:0000317|AAO:0010249|EHDAA:1912|VHOG:0000435|SCTID:277699000|EV:0100020|EHDAA2:0004164|MA:0000091|OpenCyc:Mx4rvVjj1pwpEbGdrcN5Y29ycA|NCIT:C12730|MESH:D006352|galen:Ventricle|GAID:568|XAO:0003193|MAT:0000497|Wikipedia:Ventricle_(heart)|ZFA:0000009|BTO:0000862|UMLS:C0018827|TAO:0000009|CALOHA:TS-0444|FMA:7100|EMAPA:17331 uberon owl:Class One of four heart chambers.[TAO]|A chamber of the heart that receives blood from one or more atria and pumps it by muscular contraction into the arteries.[AAO] In the primitive vertebrate heart the four chambers are: 1. Sinus venosus (...) 2. Atrium (...) 3. Ventricle (...) 4. Conus arteriosus (...)[well established][VHOG] UBERON:0010358 biolink:NamedThing arch of centrum of vertebra An arch-shaped structure of the vertebra that extends dorsally (neural arch) or ventrally (hemal arch) from the vertebral centrum. tmpxe7fu0cj_hp_relaxed.owl vertebral arch|arcus vertebrae (vertebralis)|vertebra arch|arch of vertebra EMAPA:36614|FMA:11946 uberon owl:Class (...) certain common components [of vertebral structure] are found in nearly all vertebrate. A representative vertebra has a vertebral arch or neural arch, which extends dorsally around the spinal cord.[well established][VHOG] Note that humans do not have hemal arches, so VA=NA for FMA HP:0005469 biolink:NamedThing Flat occiput Reduced convexity of the occiput (posterior part of skull). tmpxe7fu0cj_hp_relaxed.owl Flat back of the skull|Flat posterior cranium|Posterior flattening of the skull|Flat posterior head|Flat back of the head|Flat back of skull UMLS:C4280482|UMLS:C1837402 Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back. Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone. HP:0000249|HP:0000247 human_phenotype owl:Class HP:0011217 biolink:NamedThing Abnormal shape of the occiput An abnormal shape of occiput. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of posterior cranium|Abnormal shape of posterior skull|Abnormal shape of the back of the skull|Abnormal shape of posterior head|Abnormal shape of the back of the head UMLS:C4023459 peter 2011-12-03T10:14:06Z human_phenotype owl:Class HP:0004132 biolink:NamedThing Dimple on nasal tip An abnormal indentation of the skin in the region of the nasal tip. tmpxe7fu0cj_hp_relaxed.owl Dimpled tip of nose|Dimple on nasal tip UMLS:C1863349 peter 2009-01-21T05:05:55Z human_phenotype owl:Class HP:0000436 biolink:NamedThing Abnormality of the nasal tip An abnormality of the nasal tip. tmpxe7fu0cj_hp_relaxed.owl Malformation of tip of nose|Deformity of the nasal tip|Deformity of tip of nose|Abnormality of the nasal tip|Abnormality of tip of nose|Malformation of the nasal tip UMLS:C4025852 The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane. human_phenotype owl:Class UBERON:0001810 biolink:NamedThing nerve plexus Anatomical junction where subdivisions of two or more neural trees interconnect with one another to form a network through which nerve fibers of the constituent nerve trees become regrouped; together with other nerve plexuses, nerves and ganglia, it constitutes the peripheral nervous system. Examples: cervical nerve plexus, brachial nerve plexus, sacral nerve plexus[FMA]. tmpxe7fu0cj_hp_relaxed.owl plexus EHDAA:3780|UMLS:C0501403|NCIT:C12929|BTO:0000205|FMA:5901|EMAPA:37683|EHDAA2:0003138|AEO:0000138|MA:0002407 uberon owl:Class in FMA this is a subtype of junction rather than tissue UBERON:0003714 biolink:NamedThing neural tissue Portion of tissue in the nervous system which consists of neurons and glial cells, and may also contain parts of the vasculature. tmpxe7fu0cj_hp_relaxed.owl portion of neural tissue|nervous tissue|nerve tissue UMLS:C0027757|FMA:9642|EHDAA2:0003123|SCTID:91728009|OpenCyc:Mx4rVmfYCsQ_QdeM_bFAeS8NRQ|NCIT:C13052|AEO:0000123|GAID:609|MESH:D009417|AAO:0000325 uberon owl:Class One of the four types of tissue in traditional classifications. Cells forming the brain, spinal cord and peripheral nervous system.[AAO] FMA definition includes vasculature UBERON:0006067 biolink:NamedThing musculature of hindlimb zeugopod Any collection of muscles that is part of a hindlimb zeugopod. tmpxe7fu0cj_hp_relaxed.owl leg musculature|set of muscles of leg|muscle group of leg FMA:50211 uberon owl:Class UBERON:0004466 biolink:NamedThing musculature of leg Any collection of muscles that is part of a lower leg or upper leg [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl leg muscle system EHDAA2:0000973 UBERON:0005632 uberon owl:Class see notes on UBERON:0000978 for possible confusion over the term 'leg'. This class represents the class-union of upper leg musculature and lower leg musculature (and thus may not mean precisely the same thing as the EHDAA2 class) GO:0010035 biolink:NamedThing response to inorganic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an inorganic substance stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001132 biolink:NamedThing parathyroid gland The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism. tmpxe7fu0cj_hp_relaxed.owl parathyroid|epithelial body|parathyroid secreting cell EV:0100134|EMAPA:32812|XAO:0000167|MESH:D010280|VHOG:0001188|GAID:452|EFO:0000862|UMLS:C0030518|CALOHA:TS-0745|MIAA:0000082|MAT:0000082|MA:0000128|NCIT:C12765|AAO:0010545|FMA:13890|BTO:0000997 uberon owl:Class Any one of several small structures, usually four, attached to the dorsal surfaces of the lateral lobes of the thyroid gland. [TFD][VHOG]|Either of the two pairs of small, spherical, encapsulated glands which develop from ventral growths of the third and fourth pharyngeal pouches and are closely associated with the external jugular veins. Calcitonin and parathyroid hormone are secreted by these glands.[AAO] The evolution of the tetrapods, and the shift from an aquatic to a terrestrial environment, was believed to have required new controls for regulating calcium homeostasis, and thus the evolution of parathyroid glands (...) both the tetrapod parathyroid and the gills of fish contribute to the regulation of extracellular calcium levels. It is therefore reasonable to suggest that the parathyroid gland evolved as a result of the transformation of the gills into the parathyroid glands of tetrapods and the transition from an aquatic to a terrestrial environment. This interpretation would also explain the positioning of the parathyroid gland within the pharynx in the tetrapod body. Were the parathyroid gland to have emerged de novo with the evolution of the tetrapods it could, as an endocrine organ, have been placed anywhere in the body and still exert its effect.[well established][VHOG] Parathyroid glands are found in all adult tetrapods, although they vary in their number, and in their exact position. Mammals typically have four parathyroids, while other groups typically have six. Fish do not possess parathyroid glands, although the ultimobranchial glands, which are found close to the oesophagus, may have a similar function and could even be homologous with the tetrapod parathyroids. Even these glands are absent in the most primitive vertebrates, the jawless fish, but as these species have no bone in their skeletons, only cartilage, it may be that they have less need to regulate calcium metabolism. The conserved homology of genes and calcium-sensing receptors in fish gills with those in the parathryroid glands of birds and mammals is recognized by evolutionary developmental biology as evolution-using genes and gene networks in novel ways to generate new structures with some similar functions and novel functions[WP] table 13.1 of Kardong is used to create the taxon-specific developmental relationships here, although some omissions are made for simplicity.|In humans and chick it emerges from pouches 3 and 4, but in mice it is exclusively generated by the third pouch HP:0000893 biolink:NamedThing Bulging of the costochondral junction Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1848538 The costochondral junction is the structure where the ribs articulate with the sternum. human_phenotype owl:Class GO:0060264 biolink:NamedThing regulation of respiratory burst involved in inflammatory response Any process that modulates the rate, frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases made as a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. tmpxe7fu0cj_hp_relaxed.owl regulation of respiratory burst involved in acute inflammatory response biological_process owl:Class HP:0031278 biolink:NamedThing Abnormal thoracic duct morphology Any structural anomaly of the thoracic duct. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 16:33:27+00:00 peter owl:Class PATO:0001595 biolink:NamedThing depth A 1-D extent quality inhering in a bearer by virtue of the bearer's downward or backward or inward dimension. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0007016 biolink:NamedThing Corticospinal tract hypoplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844007 human_phenotype owl:Class HP:0007365 biolink:NamedThing Aplasia/Hypoplasia involving the corticospinal tracts tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024901 peter 2008-03-31T05:45:00Z owl:Class HP:3000050 biolink:NamedThing Abnormal odontoid tissue morphology An abnormality of an odontoid tissue. tmpxe7fu0cj_hp_relaxed.owl Abnormality of odontoid tissue|Abnormality of tooth hard tissue|Abnormality of hard tissues of teeth UMLS:C4073258 vasilevs 2015-08-07T01:08:54Z owl:Class HP:0003549 biolink:NamedThing Abnormality of connective tissue Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025596 owl:Class UBERON:0011160 biolink:NamedThing nasal suture A suture joining a nasal bone to another bone. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0009199 biolink:NamedThing facial suture Any suture between facial bones. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0070199 biolink:NamedThing establishment of protein localization to chromosome The directed movement of a protein to a specific location on a chromosome. tmpxe7fu0cj_hp_relaxed.owl establishment of protein localisation to chromosome biological_process owl:Class HP:0012243 biolink:NamedThing Abnormal reproductive system morphology A structural or developmental anomaly of any of the tissues involved in the genital system. tmpxe7fu0cj_hp_relaxed.owl Abnormal genital system morphology UMLS:C4021096 peter 2013-04-02T07:02:20Z human_phenotype owl:Class HP:0033977 biolink:NamedThing Talar aplasia Absent talus owing to a congenital defect. tmpxe7fu0cj_hp_relaxed.owl Absent talus|Talus aplasia 2021-06-25 14:07:43+00:00 peter owl:Class PATO:0001872 biolink:NamedThing cuboid A convex 3-D shape quality inhering in a bearer by virtue of the bearer's resemblance to a cube (a 3-D shape with a square cross section). tmpxe7fu0cj_hp_relaxed.owl cuboidal|block-like quality owl:Class UBERON:0016455 biolink:NamedThing upper lateral secondary incisor tooth tmpxe7fu0cj_hp_relaxed.owl maxillary lateral secondary incisor tooth|upper lateral permanent incisor tooth FMA:55724 uberon https://github.com/obophenotype/uberon/issues/557 owl:Class UBERON:0036291 biolink:NamedThing myocardium of anterior wall of right ventricle tmpxe7fu0cj_hp_relaxed.owl FMA:260877 uberon owl:Class GO:0055008 biolink:NamedThing cardiac muscle tissue morphogenesis The process in which the anatomical structures of cardiac muscle tissue are generated and organized. tmpxe7fu0cj_hp_relaxed.owl heart muscle morphogenesis|myocardium morphogenesis biological_process owl:Class UBERON:0002203 biolink:NamedThing vasculature of eye Vasculature that is part of the eye region. tmpxe7fu0cj_hp_relaxed.owl ocular vasculature|optic vasculature|vascular network of eye|eye vascular network|eye vasculature|ocular blood vessel TAO:0007057|FMA:74743|ZFA:0007057|SCTID:123846009 uberon owl:Class not part of the eye in ZFA. Note this changed to a blood vessel in ZFA HP:0009300 biolink:NamedThing Aplasia/Hypoplasia of the proximal phalanx of the 4th finger tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped innermost ring finger bone|Absent/small innermost ring finger bone UMLS:C4020658 doelkens 2009-01-08T04:28:54Z HP:0004203 human_phenotype owl:Class HP:0007917 biolink:NamedThing Tractional retinal detachment A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866178 human_phenotype owl:Class HP:0000541 biolink:NamedThing Retinal detachment Separation of the inner layers of the retina (neural retina) from the pigment epithelium. tmpxe7fu0cj_hp_relaxed.owl Detached retina|Retinal detachment MSH:D012163|UMLS:C0035305|SNOMEDCT_US:42059000 HP:0008021|HP:0007864 human_phenotype owl:Class HP:3000030 biolink:NamedThing Abnormality of bony orbit of skull An abnormality of an orbit of skull. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the orbital bones of skull|Abnormality of bones of the orbit of the skull|Abnormality of the bony eye socket UMLS:C4073239 vasilevs 2015-08-07T00:27:07Z human_phenotype owl:Class HP:0000315 biolink:NamedThing Abnormality of the orbital region tmpxe7fu0cj_hp_relaxed.owl Anomaly of the orbital region of the face|Abnormality of the eye region|Abnormality of the region around the eyes|Deformity of the orbital region of the face|Malformation of the orbital region of the face UMLS:C4025863 HP:0000284 human_phenotype owl:Class GO:0031507 biolink:NamedThing heterochromatin assembly An epigenetic gene silencing mechanism that involves the assembly of chromatin into heterochromatin, resulting in a chromatin conformation refractory to transcription. This process starts with heterochromatin nucleation, its spreading, and ends with heterochromatin boundary formation. tmpxe7fu0cj_hp_relaxed.owl establishment of chromatin silencing|TGS|heterochromatin assembly involved in chromatin silencing|heterochromatin formation involved in chromatin silencing at centromere outer repeat region|chromatin silencing|heterochromatin assembly involved in chromatin silencing at centromere outer repeat region|establishment of heterochromatin architecture involved in chromatin silencing at pericentric region|heterochromatin maintenance|heterochromatin formation involved in chromatin silencing|establishment of heterochromatin architecture|heterochromatic silencing|establishment of heterochromatic silencing|chromatin-mediated silencing|transcriptional gene silencing|heterochromatin assembly involved in chromatin silencing at pericentric region|heterochromatin formation|heterochromatin formation involved in chromatin silencing at pericentric region|establishment of heterochromatin architecture involved in chromatin silencing at centromere outer repeat region https://github.com/geneontology/go-ontology/issues/18954|https://github.com/geneontology/go-ontology/issues/19112|https://github.com/geneontology/go-ontology/issues/22030 GO:0070869|GO:0006343|GO:1904497|GO:0016440|GO:0006342 biological_process owl:Class GO:0045814 biolink:NamedThing negative regulation of gene expression, epigenetic An epigenetic process that stops, prevents or reduces the rate of gene expression by remodelling of chromatin by either modifying the chromatin fiber, the nucleosomal histones, or the DNA. tmpxe7fu0cj_hp_relaxed.owl down regulation of gene expression, epigenetic|gene silencing|inhibition of gene expression, epigenetic|downregulation of gene expression, epigenetic|down-regulation of gene expression, epigenetic https://github.com/geneontology/go-ontology/issues/22201 biological_process owl:Class GO:0044275 biolink:NamedThing cellular carbohydrate catabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0016052 biolink:NamedThing carbohydrate catabolic process The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. tmpxe7fu0cj_hp_relaxed.owl catabolic carbohydrate metabolic process|carbohydrate degradation|catabolic carbohydrate metabolism|carbohydrate catabolism|carbohydrate breakdown|multicellular organismal carbohydrate catabolic process|single-organism carbohydrate catabolic process jl 2012-10-23T16:34:39Z GO:0044276|GO:0044724|GO:0006095 biological_process owl:Class HP:0040022 biolink:NamedThing Clinodactyly of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Curvature of index finger|Second finger clinodactyly UMLS:C4022486 HPO:skoehler owl:Class HP:0009468 biolink:NamedThing Deviation of the 2nd finger Displacement of the 2nd finger from its normal position. tmpxe7fu0cj_hp_relaxed.owl Deviated index finger|Displaced index finger UMLS:C4021468 doelkens 2009-01-15T09:42:36Z HP:0004101 human_phenotype owl:Class HP:0008743 biolink:NamedThing Coronal hypospadias A mild form of hypospadias in which the urethra opens just under the corona glandis. tmpxe7fu0cj_hp_relaxed.owl Subcoronal hypospadias SNOMEDCT_US:429641000124109|UMLS:C1394030|UMLS:C4020787 human_phenotype owl:Class HP:0000047 biolink:NamedThing Hypospadias Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. tmpxe7fu0cj_hp_relaxed.owl Hypospadia Fyler:4504|SNOMEDCT_US:204888000|UMLS:C1691215 human_phenotype owl:Class CL:0000894 biolink:NamedThing DN1 thymic pro-T cell A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl double negative 1|DN1 thymocyte|DN1 thymic pro-T-cell|DN1 thymic progenitor T cell|DN1 thymic pro-T lymphocyte|preT.DN1.Th|DN1 thymic pro-T-lymphocyte cell owl:Class HP:0030451 biolink:NamedThing Mesenteric cyst A closed fluid filled sac originating from the mesentary. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0025467|SNOMEDCT_US:27970007|MSH:D008639|SNOMEDCT_US:253802003 A mesenteric cyst is defined as any cyst located in the mesentery; it may or may not extend into the retroperitoneum, which has a recognizable lining of endothelium or mesothelial cell. Mesenteric cyst can occur anywhere in the mesentery of gastrointestinal tract from duodenum to rectum. Mesenteric cysts can be simple or multiple, unilocular or multilocular, and they may contain hemorrhagic, serous, chylous, or infected fluid. They can range in size from a few millimetres to few cm in diameter, however, at times may be so large that it may mimic tubercular ascites. owl:Class HP:0100016 biolink:NamedThing Abnormality of mesentery morphology Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium). tmpxe7fu0cj_hp_relaxed.owl Abnormality of the mesentery UMLS:C4022389 doelkens 2010-05-25T11:20:36Z human_phenotype owl:Class UBERON:0004628 biolink:NamedThing thoracic vertebra 3 The third thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl third thoracic vertebra|third dorsal vertebra|T3 vertebra EMAPA:19544|FMA:9209|NCIT:C33725|UMLS:C0459952|MA:0001440 elements are to be defined spatially/topologically uberon owl:Class HP:0004060 biolink:NamedThing Trident hand A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits. tmpxe7fu0cj_hp_relaxed.owl trident abnormality|trident deformity UMLS:C0426874|SNOMEDCT_US:249755001 This abnormality is often seen in patients with achondroplasia. human_phenotype owl:Class HP:0000143 biolink:NamedThing Rectovaginal fistula The presence of a fistula between the vagina and the rectum. tmpxe7fu0cj_hp_relaxed.owl Abnormal connection between rectum and vagina SNOMEDCT_US:65619001|UMLS:C0034895|MSH:D012006|MEDDRA:10051097 human_phenotype owl:Class HP:0004320 biolink:NamedThing Vaginal fistula The presence of a fistula of the vagina. tmpxe7fu0cj_hp_relaxed.owl MSH:D014624|SNOMEDCT_US:45135002|UMLS:C0042253 peter 2008-02-25T12:17:00Z human_phenotype owl:Class HP:0006539 biolink:NamedThing Bronchial cartilage hypoplasia tmpxe7fu0cj_hp_relaxed.owl Underdevelopment of the bronical cartilage UMLS:C4025024 owl:Class HP:0012690 biolink:NamedThing T2 hypointense thalamus A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022776 peter 2014-03-22T04:32:50Z human_phenotype owl:Class HP:0012696 biolink:NamedThing Abnormal thalamic MRI signal intensity A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022770 peter 2014-03-22T05:49:08Z human_phenotype owl:Class HP:0007525 biolink:NamedThing Yellow subcutaneous tissue covered by thin, scaly skin tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850533 human_phenotype owl:Class HP:0010252 biolink:NamedThing Ivory epiphyses of the distal phalanges of the hand Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. tmpxe7fu0cj_hp_relaxed.owl Eburnated epiphyses of distal phalanges|Increased bone density of end part of the outermost hand bones UMLS:C4021301 doelkens 2009-07-06T04:23:06Z HP:0006105 human_phenotype owl:Class UBERON:0003578 biolink:NamedThing pedal digit connective tissue A portion of connective tissue that is part of a toe [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hind limb digit connective tissue|connective tissue of foot digit|foot digit connective tissue|digitus pedis textus connectivus|connective tissue of toe|connective tissue of digit of foot|connective tissue of digitus pedis MA:0000647|EMAPA:37330 uberon owl:Class UBERON:0012075 biolink:NamedThing replacement bone Bone that forms as a replacement of another structural tissue. tmpxe7fu0cj_hp_relaxed.owl replacement bones ZFA:0001628|AAO:0010768|TAO:0001637 uberon owl:Class Bone that forms as a replacement of another structural tissue.[TAO] This class was introduced to be consistent with the ZFA hierarchy. The corresponding TAO term was obsoleted, and never introduced into VSAO. Note that VSAO does have replacement element. HP:0008094 biolink:NamedThing Widely spaced toes An overall widening of the spaces between the digits. tmpxe7fu0cj_hp_relaxed.owl Widely spaced toes UMLS:C1969238 This description is based on the width of the gap between the toes. It is usually used when the width of the toes remains normal rather than to describe a situation where the toes are thin or narrow. This term should not be used for the situation where the finding is limited to a gap between T1,2 (see Sandal gap). HP:0008077 human_phenotype owl:Class HP:0006059 biolink:NamedThing Cone-shaped metacarpal epiphyses A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones. tmpxe7fu0cj_hp_relaxed.owl Metacarpal cone-shaped epiphyses|Cone-shaped end part of long bone UMLS:C1855239 human_phenotype owl:Class HP:0031991 biolink:NamedThing Increased urinary excretion of galactosyl hydroxylysine An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption. tmpxe7fu0cj_hp_relaxed.owl 2018-07-09 15:24:43+00:00 peter owl:Class HP:0025587 biolink:NamedThing Hyperdeviation A type of strabismus in which the visual axis of one eye is higher than that of the other. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 19:45:45+00:00 Hyperphoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypertropia is a manifest deviation in which the eyes are not aligned under binocular conditions. HPO:probinson owl:Class HP:0006589 biolink:NamedThing Flaring of lower rib cage tmpxe7fu0cj_hp_relaxed.owl Flaring of lower rib cage UMLS:C1855196 human_phenotype owl:Class HP:0000904 biolink:NamedThing Flaring of rib cage The presence of wide, concave anterior rib ends. tmpxe7fu0cj_hp_relaxed.owl Flaring of rib cage|Anterior flaring of ribs UMLS:C1854780 HP:0006656 human_phenotype owl:Class HP:0006380 biolink:NamedThing Knee flexion contracture A bent (flexed) knee joint that cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl Contractures of knees|Knee contractures|Flexion deformity of the knee|Knee contracture|Contractures of the knees|Knee flexion contractures|Flexion contracture of knees|Knee flexion deformity|Flexion contractures of knees|Flexion contractures at both knees|Inability to straighten knee SNOMEDCT_US:202289003|UMLS:C0409355 HP:0002978 human_phenotype owl:Class GO:0031343 biolink:NamedThing positive regulation of cell killing Any process that activates or increases the frequency, rate or extent of cell killing. tmpxe7fu0cj_hp_relaxed.owl activation of cell killing|upregulation of cell killing|up-regulation of cell killing|up regulation of cell killing|stimulation of cell killing biological_process owl:Class UBERON:0004266 biolink:NamedThing upper leg connective tissue A portion of connective tissue that is part of a hindlimb stylopod [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl MA:0000683|EMAPA:37325 uberon owl:Class HP:0006558 biolink:NamedThing Decreased mitochondrial complex III activity in liver tissue Decreased activity of complex III of the mitochondrion in the liver. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025022 Complex III, also known as ubiquinol-cytochrome c oxidoreductase or cytochrome bc1 complex, is a multisubunit integral membrane complex of the mitochondrial transport chain, which catalyzes electron transfer from ubiquinol to cytochrome c and couples this process to electrogenic translocation of protons across the mitochondrial inner membrane. Mitochondrial complex III is integrated in the inner mitochondrial membrane. human_phenotype owl:Class HP:0025155 biolink:NamedThing Abnormality of hepatobiliary system physiology A functional anomaly of the hepatobiliary system tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 12:05:04+00:00 HPO:probinson owl:Class HP:0005894 biolink:NamedThing Double first metacarpals Duplication of the metacarpal I bones. tmpxe7fu0cj_hp_relaxed.owl Double 1st long bones of hand UMLS:C4025112 human_phenotype owl:Class HP:0005917 biolink:NamedThing Supernumerary metacarpal bones The presence of more than the normal number of metacarpal bones. tmpxe7fu0cj_hp_relaxed.owl Extra long bones of hand UMLS:C0545617|SNOMEDCT_US:91846008 peter 2008-03-27T02:18:00Z human_phenotype owl:Class UBERON:0004123 biolink:NamedThing myocardial layer Any of the layers of the myocardium. Example: compact layer, trabecular layer. tmpxe7fu0cj_hp_relaxed.owl myocardium layer|layer of myocardium MA:0000080|EMAPA:37475 uberon owl:Class UBERON:0004862 biolink:NamedThing left lung alveolus An alveolus that is part of a left lung [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl alveolus of left lung|alveolus of lobe of left lung UMLS:C1708673|NCIT:C49251|MA:0001777|EMAPA:19182 uberon owl:Class UBERON:0003215 biolink:NamedThing alveolus Organ part that has the form of a hollow cavity[WP]. tmpxe7fu0cj_hp_relaxed.owl OpenCyc:Mx4rwN8NFZwpEbGdrcN5Y29ycA|NCIT:C12986|FMA:82493|EFO:0002513|EV:0100043|UMLS:C0034051 uberon owl:Class alveolar GO:2000826 biolink:NamedThing regulation of heart morphogenesis Any process that modulates the frequency, rate or extent of heart morphogenesis. tmpxe7fu0cj_hp_relaxed.owl regulation of cardiac morphogenesis vk 2011-07-19T10:08:58Z biological_process owl:Class GO:2000027 biolink:NamedThing regulation of animal organ morphogenesis Any process that modulates the frequency, rate or extent of animal organ morphogenesis. tmpxe7fu0cj_hp_relaxed.owl regulation of histogenesis and organogenesis tb 2010-08-05T11:26:27Z biological_process owl:Class GO:0010033 biolink:NamedThing response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. tmpxe7fu0cj_hp_relaxed.owl process resulting in tolerance to organic substance GO:1990367 biological_process owl:Class HP:0006239 biolink:NamedThing Shortening of all middle phalanges of the toes Abnormal shortening of all middle phalanges of toes. tmpxe7fu0cj_hp_relaxed.owl Brachymesophalangy of feet|Shortening of all the middle bones of the toes UMLS:C4021605 human_phenotype owl:Class GO:0002759 biolink:NamedThing regulation of antimicrobial humoral response Any process that modulates the frequency, rate, or extent of an antimicrobial humoral response. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0008765 biolink:NamedThing Auditory hallucinations The false perception of sound. tmpxe7fu0cj_hp_relaxed.owl Hearing sounds|Hallucinations of sound SNOMEDCT_US:45150006|UMLS:C0233762|MSH:D006212 HP:0000714 owl:Class HP:0000738 biolink:NamedThing Hallucinations Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. tmpxe7fu0cj_hp_relaxed.owl Hallucination|Hallucinations|Sensory hallucination UMLS:C0018524|MSH:D006212|UMLS:C0235153|SNOMEDCT_US:7011001 owl:Class HP:0010413 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped outermost 2nd toe bone|Absent/small outermost 2nd toe bone UMLS:C4023843 doelkens 2009-07-16T12:44:41Z human_phenotype owl:Class HP:0010347 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Absent/small bones of 2nd toe|Absent/underdeveloped bones of 2nd toe UMLS:C4023890 doelkens 2009-07-16T11:45:34Z owl:Class HP:0009516 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the middle bone of the index finger UMLS:C4024317 doelkens 2009-01-16T01:12:17Z human_phenotype owl:Class HP:0010260 biolink:NamedThing Enlarged epiphyses of the middle phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the middle hand bones UMLS:C4023941 doelkens 2009-07-06T04:24:15Z human_phenotype owl:Class UBERON:4200172 biolink:NamedThing neck of humerus tmpxe7fu0cj_hp_relaxed.owl humeral neck|collum anatomicum humeri|collum anatomicum (Humerus)|anatomic neck of humerus NCIT:C33164|FMA:23356 uberon owl:Class CHEBI:24373 biolink:NamedThing glycine derivative A proteinogenic amino acid derivative resulting from reaction of glycine at the amino group or the carboxy group, or from the replacement of any hydrogen of glycine by a heteroatom. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0006163 biolink:NamedThing Enlarged metacarpophalangeal joints tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859700 human_phenotype owl:Class UBERON:0003279 biolink:NamedThing endothelium of trachea An endothelium that is part of a trachea. tmpxe7fu0cj_hp_relaxed.owl windpipe endothelium|endothelium of windpipe|trachea endothelium RETIRED_EHDAA2:0002068|EHDAA:3082 uberon owl:Class GO:0003676 biolink:NamedThing nucleic acid binding Binding to a nucleic acid. tmpxe7fu0cj_hp_relaxed.owl base pairing GO:0000496 molecular_function owl:Class GO:0097159 biolink:NamedThing organic cyclic compound binding Binding to an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. tmpxe7fu0cj_hp_relaxed.owl pr 2011-09-23T02:31:01Z molecular_function owl:Class HP:0032986 biolink:NamedThing Smoker-inclusions in alveolar macrophages In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0003438 biolink:NamedThing iris nerve Any nerve that innervates the iris. tmpxe7fu0cj_hp_relaxed.owl nerve of iris|ciliary nerve EMAPA:35449|MA:0001291 added for consistency with mouse ontologies. The term 'ciliary nerve' is usually used to denote either of the two nerves (with different origins) that innervate the iris, as well as ciliary muscles and cornea uberon owl:Class HP:0006938 biolink:NamedThing Impaired vibration sensation at ankles A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. tmpxe7fu0cj_hp_relaxed.owl Decreased vibration sense in feet|Decreased vibration sense at ankles|Impaired vibration sensation at ankles UMLS:C1854372 HP:0007144 human_phenotype owl:Class HP:0006886 biolink:NamedThing Impaired distal vibration sensation A decrease in the ability to perceive vibration in the distal portions of the limbs. tmpxe7fu0cj_hp_relaxed.owl Decreased distal vibration sense UMLS:C1853767 human_phenotype owl:Class HP:0008214 biolink:NamedThing Decreased serum estradiol A reduction below normal concentration of estradiol in the circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased serum estradiol UMLS:C0241011|SNOMEDCT_US:166449002 human_phenotype owl:Class HP:0100660 biolink:NamedThing Dyskinesia A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. tmpxe7fu0cj_hp_relaxed.owl Disorder of involuntary muscle movements|Dyskinesias|Dyskinesis UMLS:C0013384|MSH:D020820|SNOMEDCT_US:9748009 doelkens 2010-12-30T11:46:50Z human_phenotype owl:Class HP:0009094 biolink:NamedThing Cleft lower alveolar ridge tmpxe7fu0cj_hp_relaxed.owl Notch of mandibular alveolar ridge|Notch of lower alveolar process|Cleft of lower gum ridge|Notch of lower alveolar ridge|Cleft of mandibular alveolar process|Cleft of lower gingiva|Cleft of mandibular gingiva|Cleft of lower alveolar process|Notch of lower gum ridge|Notch of mandibular alveolar process UMLS:C4280404|UMLS:C4280405|UMLS:C1849350|UMLS:C4280406 human_phenotype owl:Class HP:0010289 biolink:NamedThing Cleft of alveolar ridge of maxilla A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. tmpxe7fu0cj_hp_relaxed.owl Notch of alveolar ridge|Notch of gum ridge|Alveolar ridge cleft|Cleft of gum ridge|Cleft of alveolar process|Notch of alveolar process SNOMEDCT_US:445306000|UMLS:C2919907|UMLS:C1398533|UMLS:C4280386 peter 2009-07-12T10:47:29Z human_phenotype owl:Class CL:0000163 biolink:NamedThing endocrine cell A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions. tmpxe7fu0cj_hp_relaxed.owl endocrinocyte FMA:83809 cell owl:Class HP:0100543 biolink:NamedThing Cognitive impairment Abnormal cognition with deficits in thinking, reasoning, or remembering. tmpxe7fu0cj_hp_relaxed.owl Cognitive defects|Cognitive abnormality|Intellectual impairment|Cognitive deficits|Abnormality of cognition|Cognitive impairment UMLS:C0338656|SNOMEDCT_US:386806002|UMLS:C0683322|MSH:D060825 An individual with cognitive impairment may have trouble remembering, learning new things, concentrating, or making decisions. doelkens 2010-12-20T06:50:32Z HP:0002441|HP:0006972|HP:0007211|HP:0002128|HP:0006998|HP:0002337|HP:0002129|HP:0002302 owl:Class CL:0009000 biolink:NamedThing sensory neuron of spinal nerve A sensory neuron of the spinal nerve that senses body position and sends information about how much the muscle is stretched to the spinal cord. tmpxe7fu0cj_hp_relaxed.owl spinal sensory neuron owl:Class PR:000009758 biolink:NamedThing leptin A protein that is a translation product of the human LEP gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl obese protein|OBS|obesity factor|OB|LEP Category=gene. protein owl:Class HP:0030658 biolink:NamedThing Marginal umbilical cord insertion Insertion of the umbilical cord within 2 cm from the placental edge. tmpxe7fu0cj_hp_relaxed.owl Marginal cord insertion|Battledore placenta SNOMEDCT_US:51519001|UMLS:C0266788 Marginal cord insertion has an incidence of about 7 percent of births. It is associated with intrauterine growth retardation, preterm labor and development of velamentous cord insertion. The synonym battledore placenta is so named because of its resemblance to the bat used in the medieval game of battledore and shuttlecock. UToronto:chum owl:Class HP:0011418 biolink:NamedThing Abnormal insertion of umbilical cord Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta. tmpxe7fu0cj_hp_relaxed.owl MSH:D055949|UMLS:C0269852|SNOMEDCT_US:79668009 peter 2012-03-15T10:15:01Z owl:Class GO:0042063 biolink:NamedThing gliogenesis The process that results in the generation of glial cells. This includes the production of glial progenitors and their differentiation into mature glia. tmpxe7fu0cj_hp_relaxed.owl glial cell generation biological_process owl:Class UBERON:0004902 biolink:NamedThing urogenital sinus epithelium The fetal urogenital sinus (from which the prostate derives) is a simple cylinder of stratified basal epithelium, surrounded by mesenchyme and positioned between the embryonic bladder and pelvic urethra. tmpxe7fu0cj_hp_relaxed.owl epithelium of urogenital sinus|UGE EHDAA2:0004061|EMAPA:31509 uberon owl:Class we follow EHDAA2 in dividing the UGS into epithelium and lumen GO:1905523 biolink:NamedThing positive regulation of macrophage migration Any process that activates or increases the frequency, rate or extent of macrophage migration. tmpxe7fu0cj_hp_relaxed.owl up regulation of macrophage migration|up-regulation of macrophage migration|activation of macrophage migration|upregulation of macrophage migration sl 2016-10-03T15:29:21Z biological_process owl:Class GO:0099550 biolink:NamedThing trans-synaptic signaling, modulating synaptic transmission Cell-cell signaling between presynapse and postsynapse, across the synaptic cleft, that modulates the synaptic transmission properties of the synapse. tmpxe7fu0cj_hp_relaxed.owl Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua. biological_process owl:Class UBERON:0001255 biolink:NamedThing urinary bladder Distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]. tmpxe7fu0cj_hp_relaxed.owl urocyst|vesica|vesica urinaria|bladder MA:0000380|CALOHA:TS-1090|EV:0100098|FMA:15900|NCIT:C12414|VHOG:0000740|GAID:0000004|BTO:0001418|MIAA:0000122|MAT:0000122|AAO:0000623|UMLS:C0005682|EHDAA:9328|OpenCyc:Mx4rvVjMmZwpEbGdrcN5Y29ycA|EHDAA2:0000174|galen:UrinaryBladder|EFO:0000290|EMAPA:18321|MESH:A05.810.161|XAO:0000154 Urinary:system.svg uberon owl:Class A saccular organ in which urine accumulates before discharge from the body. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]|Anatomical structure which consists of a membranous sac used to temporarily store urine until it is excreted from the body.[AAO] In tetrapods, the urinary bladder arises as an outpocketing of the cloaca. (...) The tetrapod urinary bladder appears first among amphibians and is present in Sphenodon, turtles, most lizards, ostriches among birds, and all mammals.[well established][VHOG] vesical The urinary bladder evolved in tetrapods. Birds to not possess a true urinary bladder, although Palaeognathae have an undifferentiated cloacal outpocketing that serves a similar function[https://github.com/obophenotype/uberon/issues/454] UBERON:0002075 biolink:NamedThing viscus An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen. tmpxe7fu0cj_hp_relaxed.owl visceral tissue|visceral organ|visceral organ system|viscera|splanchnic tissue EMAPA:16245|MA:0000019|RETIRED_EHDAA2:0002201|MESH:D014781|Wikipedia:Viscus|UMLS:C0042779|FMA:7085|BTO:0001491|XAO:0003034|NCIT:C28287|SCTID:118760003|EHDAA:512|AAO:0010386 uberon owl:Class An internal organ of the body; especially: one (as the heart, liver, or intestine) located in the great cavity of the trunk proper.[AAO] general anatomical term in FMA. Note that we place the MA class here temporarily, although properly systems should be distinguished from organs. HP:0031596 biolink:NamedThing Abnormal PR segment An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric. tmpxe7fu0cj_hp_relaxed.owl 2017-10-15 13:35:56+00:00 The PR interval begins at the onset of the P wave and ends at the onset of the QRS complex. This interval reflects the time the impulse takes to reach the ventricles from the sinus node. In contrast, the PR segment begins at the endpoint of the P wave and ends at the onset of the QRS complex. It reflects the conduction from the atrioventricular node, down the bundle of His and through the bundle branches to the muscle. peter owl:Class UBERON:0004413 biolink:NamedThing proximal epiphysis of radius A proximal epiphysis that is part of a radius [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal end of radius|proximal radial epiphysis|upper end of radius FMA:39780 uberon owl:Class GO:0007519 biolink:NamedThing skeletal muscle tissue development The developmental sequence of events leading to the formation of adult skeletal muscle tissue. The main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers. tmpxe7fu0cj_hp_relaxed.owl myogenesis GO:0048637 biological_process owl:Class GO:0014706 biolink:NamedThing striated muscle tissue development The process whose specific outcome is the progression of a striated muscle over time, from its formation to the mature structure. Striated muscle contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. Skeletal muscle myoblasts fuse to form myotubes and eventually multinucleated muscle fibers. The fusion of cardiac cells is very rare and can only form binucleate cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025649 biolink:NamedThing Steroid-sensitive nephrotic syndrome with frequent relapses A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. tmpxe7fu0cj_hp_relaxed.owl Biopsy is necessary to determine underlying histology. Treatment with levamisole or immunosuppression (e.g. calcineurin inhibitors, cyclophosphamide or mycophenolat mofetil) in order to reduce steroid toxicity. peterrobinson owl:Class HP:0025647 biolink:NamedThing Steroid-sensitive nephrotic syndrome A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy. tmpxe7fu0cj_hp_relaxed.owl SSNS peterrobinson owl:Class UBERON:0001242 biolink:NamedThing intestinal mucosa Mucosal layer that lines the intestine. tmpxe7fu0cj_hp_relaxed.owl bowel mucous membrane|bowel mucosa of organ|organ mucosa of bowel|intestine organ mucosa|mucosa of bowel|tunica mucosa intestini|organ mucosa of intestine|intestine mucous membrane|bowel organ mucosa|mucosa of organ of intestine|mucosa of organ of bowel|intestine mucosa of organ|intestine mucosa|mucous membrane of bowel|mucosa of intestine|mucous membrane of intestine|bowel mucosa MESH:A03.492.411.369|GAID:296|EMAPA:35440|NCIT:C49241|MA:0001537|UMLS:C0021839|FMA:15695|BTO:0000642 uberon owl:Class UBERON:0003350 biolink:NamedThing epithelium of mucosa A layer of epithelial cells on the surface of the mucosa. tmpxe7fu0cj_hp_relaxed.owl lamina epithelialis mucosa|lamina epithelialis mucosae BTO:0003752 lies on top of lamina propria uberon owl:Class GO:0045722 biolink:NamedThing positive regulation of gluconeogenesis Any process that activates or increases the frequency, rate or extent of gluconeogenesis. tmpxe7fu0cj_hp_relaxed.owl up-regulation of gluconeogenesis|up regulation of gluconeogenesis|activation of gluconeogenesis|stimulation of gluconeogenesis|upregulation of gluconeogenesis biological_process owl:Class GO:0010907 biolink:NamedThing positive regulation of glucose metabolic process Any process that increases the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. tmpxe7fu0cj_hp_relaxed.owl positive regulation of glucose metabolism biological_process owl:Class HP:0000570 biolink:NamedThing Abnormal saccadic eye movements An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements. tmpxe7fu0cj_hp_relaxed.owl Abnormality of saccadic eye movements|Impaired saccades UMLS:C1842584|UMLS:C4025841 Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades. HP:0000604 human_phenotype owl:Class PATO:0001602 biolink:NamedThing distended A size quality inhering in a bearer by virtue of the bearer's being abnormally expanded or increased in size. tmpxe7fu0cj_hp_relaxed.owl expanded quality owl:Class PATO:0000380 biolink:NamedThing increased frequency A frequency which is relatively high. tmpxe7fu0cj_hp_relaxed.owl high frequency|frequent quality owl:Class PATO:0000044 biolink:NamedThing frequency A physical quality which inheres in a bearer by virtue of the number of the bearer's repetitive actions in a particular time. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:0070051 biolink:NamedThing fibrinogen binding Binding to fibrinogen, a highly soluble hexameric glycoprotein complex that is found in blood plasma and is converted to fibrin by thrombin in the coagulation cascade. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class GO:0044877 biolink:NamedThing protein-containing complex binding Binding to a macromolecular complex. tmpxe7fu0cj_hp_relaxed.owl protein complex binding|macromolecular complex binding jl 2014-12-16T11:38:58Z GO:0032403 molecular_function owl:Class GO:2000181 biolink:NamedThing negative regulation of blood vessel morphogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of blood vessel morphogenesis. tmpxe7fu0cj_hp_relaxed.owl dph 2010-10-13T12:46:31Z biological_process owl:Class UBERON:0001310 biolink:NamedThing umbilical artery The umbilical artery is a paired artery (with one for each half of the body) that is found in the abdominal and pelvic regions. In the fetus, it extends into the umbilical cord. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl a. umbilicalis GAID:516|EHDAA:1026|RETIRED_EHDAA2:0002106|BTO:0000841|CALOHA:TS-1077|OpenCyc:Mx4rCWdhMGWbEd2AAABQjYGu0g|UMLS:C0041632|MA:0002072|MESH:D014469|EMAPA:16331|FMA:18820|EHDAA:410|NCIT:C33827|EMAPA:16372 http://upload.wikimedia.org/wikipedia/commons/e/ee/Gray502.png todo - compare with EHDAA2. Check embryonic vs extraembryonic, developmental relationships uberon https://github.com/obophenotype/uberon/issues/328 owl:Class UBERON:0010260 biolink:NamedThing umbilical blood vessel One of the three blood vessels, usually one large umbilical vein and two small umbilical arteries, buried within Wharton's jelly, that transport blood to and from the placenta, where exchange between the mother and fetus takes place; the umbilical vein carries oxygenated, nutrient-rich blood from the placenta to the fetus, and the umbilical arteries carry deoxygenated, nutrient-depleted blood from the fetus to the placenta. tmpxe7fu0cj_hp_relaxed.owl allantoic vessel|umbilical cord blood vessel|umbilical cord blood vessels|umbilical vasculature|umbilical vessel EMAPA:36493 uberon owl:Class HP:0032191 biolink:NamedThing Torn meniscus A tear in the cartilaginous pad (meniscus) of the knee. tmpxe7fu0cj_hp_relaxed.owl 2019-01-15 11:31:04+00:00 Not all meniscal injuries require surgery. Some of them have the ability to heal. The meniscal tear pattern and the presence of adequate vascularity are both key points. Tears within 3 mm of the meniscosynovial junction usually have an adequate blood supply that allows healing. Tears of 5 mm or more from this junction are considered avascular and need surgical intervention. peter owl:Class HP:0032190 biolink:NamedThing Abnormal meniscus morphology Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement. tmpxe7fu0cj_hp_relaxed.owl 2019-01-15 11:29:05+00:00 The meniscus is a fibrocartilaginous structure of the knee joint that enables the even distribution of a weight-bearing load across the articular surfaces. The menisci bear between 40 to 70% of the load across the knee, and the rest of the load is transmitted directly to the articular cartilage. peter owl:Class CHEBI:36961 biolink:NamedThing chalcocarbonic acid tmpxe7fu0cj_hp_relaxed.owl chalcocarbonic acid|chalcocarbonic acids chebi_ontology owl:Class HP:0000892 biolink:NamedThing Bifid ribs A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray. tmpxe7fu0cj_hp_relaxed.owl Cleft ribs|Split ribs UMLS:C4721788 owl:Class HP:0000772 biolink:NamedThing Abnormal rib morphology An anomaly of the rib. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the ribs|Rib abnormalities|Rib anomalies UMLS:C1842083 HP:0006618 owl:Class HP:0005250 biolink:NamedThing High intestinal obstruction tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025227 human_phenotype owl:Class HP:0005214 biolink:NamedThing Intestinal obstruction Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. tmpxe7fu0cj_hp_relaxed.owl Bowel obstruction|Intestinal obstruction|Intestinal blockage SNOMEDCT_US:81060008|MSH:D007415|UMLS:C0021843 HP:0005239 human_phenotype owl:Class UBERON:0001185 biolink:NamedThing right renal artery Renal artery that supplies the right kidney. tmpxe7fu0cj_hp_relaxed.owl right renal arterial tree UMLS:C0226332|MA:0002037|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rveOFHpwpEbGdrcN5Y29ycA|NCIT:C52740|OpenCyc:Mx4rtW8I0KgEEdudWQACs5b6Bw|FMA:14752|EMAPA:37380 The right [renal artery] passes behind the inferior vena cava, the right renal vein, the head of the pancreas, and the descending part of the duodenum[WP] http://upload.wikimedia.org/wikipedia/commons/d/da/Gray1120.png uberon owl:Class UBERON:0001184 biolink:NamedThing renal artery One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates. tmpxe7fu0cj_hp_relaxed.owl renal arteries|arteria renalis|renal arterial tree TAO:0000420|galen:RenalArtery|AAO:0010223|MA:0002035|EHDAA2:0004100|MESH:D012077|GAID:507|EMAPA:28373|ZFA:0000420|FMA:14751|OpenCyc:Mx4rveOFHpwpEbGdrcN5Y29ycA|NCIT:C12778|UMLS:C0035065|RETIRED_EHDAA2:0001600|EFO:0002552|EHDAA:8594|EHDAA:5321|BTO:0001165 http://upload.wikimedia.org/wikipedia/commons/d/da/Gray1120.png renal arteries vary widely even in humans. Sub-structures should be checked for taxon variability. uberon owl:Class Artery which supplies blood via branches to the gonads, oviducts, and kidneys.[AAO]|The renal arteries normally arise off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supply the kidneys with blood. Each is directed across the crus of the diaphragm, so as to form nearly a right angle with the aorta. The renal arteries carry a large portion of total blood flow to the kidneys. Up to a third of total cardiac output can pass through the renal arteries to be filtered by the kidneys. The arterial supply of the kidneys is variable and there may be one or more renal arteries supplying each kidney. It is located above the renal vein. It has a radius of approximately 0.25cm, 0.26 cm at the root. The measured mean diameter can differ depending on the imaging method used. For example, the diameter was found to be 5.04 ± 0.74 mm using ultrasound, but 5.68 ± 1.19 mm using angiography. [WP,unvetted].[Wikipedia] HP:0009085 biolink:NamedThing Alveolar ridge overgrowth Increased width of the alveolar ridges. tmpxe7fu0cj_hp_relaxed.owl Overgrowth of gum ridge|Hypertrophied alveolar ridge|Increased size of gum ridge|Enlarged alveolar ridge|Thickened alveolar ridges|Increased size of alveolar ridge|Alveolar ridge excess|Hyperplasia of alveolar process of jaw|Hyperplasia of alveolar ridge|Thick alveolar ridges|Overgrowth of alveolar ridge UMLS:C1865598|UMLS:C1856164 This finding may or may not be accompanied by increased height of the alveolar ridge. This is not to be confused with Prominent palatal ridges or gingival overgrowth. This distinction of gingival from alveolar ridge overgrowth may be difficult, especially in milder degrees of the finding. HP:0009083|HP:0009078 human_phenotype owl:Class HP:0006477 biolink:NamedThing Abnormality of the alveolar ridges Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth. tmpxe7fu0cj_hp_relaxed.owl Abnormality of alveolar processes of jaw|Abnormality of dentoalveolar ridges|Defect in alveolar ridge|Abnormality of alveolar margin|Abnormality of gum ridge SNOMEDCT_US:235013007|UMLS:C0341007|UMLS:C4280445 peter 2008-03-28T04:44:00Z human_phenotype owl:Class UBERON:0005042 biolink:NamedThing inner epithelial layer of tympanic membrane A portion of the tympanic cavity epithelium which makes up the outer (cuticular) layer of the tympanic membrane. tmpxe7fu0cj_hp_relaxed.owl mucosa of tympanic membrane|mucous stratum of tympanic membrane|tympanic membrane external middle ear cavity epithelial component|tympanic membrane mucosa|mucous layer of tympanic membrane FMA:56844 uberon owl:Class in FMA this is classified as a mucosa UBERON:0009647 biolink:NamedThing tympanic membrane epithelium One of the two epithelia which make up the tympanic membrane (along with the fibrous layer). tmpxe7fu0cj_hp_relaxed.owl tympanic membrane epithelial layer|tympanic epithelium UMLS:C1711401|MA:0001224|NCIT:C49308|EMAPA:19064 uberon owl:Class HP:0100848 biolink:NamedThing Neoplasm of the male external genitalia A tumor (abnormal growth of tissue) of the male external genitalia. tmpxe7fu0cj_hp_relaxed.owl Neoplasia of the male external genitalia UMLS:C4020950|NCIT:C3262 doelkens 2011-06-17T01:33:06Z human_phenotype owl:Class HP:0033459 biolink:NamedThing Decreased circulating apolipoprotein concentration Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein). tmpxe7fu0cj_hp_relaxed.owl Decreased apolipoprotein level 2021-01-09 22:14:54+00:00 peter owl:Class HP:0025201 biolink:NamedThing Abnormal circulating apolipoprotein concentration A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal apolipoprotein level 2016-12-10 12:53:01+00:00 HPO:probinson owl:Class UBERON:0017690 biolink:NamedThing internal surface of frontal bone tmpxe7fu0cj_hp_relaxed.owl facies interna ossis frontalis|facies interna (os frontale) FMA:52856 uberon owl:Class CHEBI:15756 biolink:NamedThing hexadecanoic acid A straight-chain, sixteen-carbon, saturated long-chain fatty acid. tmpxe7fu0cj_hp_relaxed.owl hexadecanoic acid|cetylic acid|1-hexyldecanoic acid|Palmitate|PALMITIC ACID|C16|CH3-[CH2]14-COOH|Hexadecanoate|Palmitic acid|Hexadecylic acid|C16:0|Hexaectylic acid|C16 fatty acid|16:00|hexadecoic acid|Pentadecanecarboxylic acid|FA 16:0|n-hexadecoic acid|n-hexadecanoic acid|Palmitinic acid|palmitic acid|Palmitinsaeure|1-Pentadecanecarboxylic acid 0 C16H32O2 InChI=1S/C16H32O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16(17)18/h2-15H2,1H3,(H,17,18) IPCSVZSSVZVIGE-UHFFFAOYSA-N 256.42410 256.24023 CCCCCCCCCCCCCCCC(O)=O CAS:57-10-3|PMID:20001317|PMID:17502136|LIPID_MAPS_instance:LMFA01010001|PMID:16509590|Beilstein:607489|Wikipedia:Palmitic_acid|KNApSAcK:C00001233|PMID:1589452|Gmelin:190200|DrugBank:DB03796|PMID:12492626|Reaxys:607489|MetaCyc:PALMITATE|HMDB:HMDB0000220|PMID:28600633|PMID:22735334|PMID:25584012|PMID:17439666|PMID:15357969|PDBeChem:PLM|PPDB:1336|KEGG:C00249|KNApSAcK:C00030479|PMID:16884313|KEGG:D05341 CHEBI:14730|CHEBI:24540|CHEBI:44952|CHEBI:35978|CHEBI:24550|CHEBI:233028|CHEBI:24542|CHEBI:29889|CHEBI:24541 chebi_ontology owl:Class GO:0006109 biolink:NamedThing regulation of carbohydrate metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving carbohydrates. tmpxe7fu0cj_hp_relaxed.owl regulation of carbohydrate metabolism biological_process owl:Class HP:0031599 biolink:NamedThing P mitrale A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II. tmpxe7fu0cj_hp_relaxed.owl 2017-10-15 14:01:02+00:00 peter owl:Class HP:0031595 biolink:NamedThing Abnormal P wave Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria. tmpxe7fu0cj_hp_relaxed.owl 2017-10-15 13:31:59+00:00 P waves are normally upright in leads I and II and inverted in aVR. peter owl:Class UBERON:0013719 biolink:NamedThing dartos muscle of scrotum A dartos muscle that is part of a male reproductive system. tmpxe7fu0cj_hp_relaxed.owl dartos tunic|dartos layer of scrotum FMA:27647 uberon owl:Class The tunica dartos acts to regulate the temperature of the testicles, which promotes spermatogenesis. It does this by expanding or contracting to wrinkle the scrotal skin. The wrinkled (rugose) appearance of the scrotum is due to this layer of fascia the FMA class appears to belong here due to its synonyms. HP:0031748 biolink:NamedThing Abnormal vertical rectus muscle physiology A functional anomaly of the superior or inferior rectus muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:18:23+00:00 peter owl:Class HP:0031755 biolink:NamedThing Abnormal rectus muscle physiology A functional anomaly of a vertical or horizontal rectus muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:27:36+00:00 peter owl:Class HP:0012091 biolink:NamedThing Abnormality of pancreas physiology An anomaly of the function of the pancreas. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023048 peter 2012-08-20T09:17:10Z human_phenotype owl:Class HP:0001732 biolink:NamedThing Abnormality of the pancreas An abnormality of the pancreas. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the pancreas|Pancreatic disease UMLS:C4025751|UMLS:C0030286|SNOMEDCT_US:3855007|MSH:D010182 human_phenotype owl:Class HP:0030033 biolink:NamedThing Small finger Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual. tmpxe7fu0cj_hp_relaxed.owl Small finger UMLS:C0575827|SNOMEDCT_US:299058009 This is a bundled term, comprising Short finger and Slender digit, but it is so widely used that it is included. This term is only used if the finger has the normal number of phalangeal segments. An appropriate alternative term for the first digit is Small thumb, when it is the only digit affected. When a thumb and one or more fingers are affected, it may be more economical to specify Small fingers, F1-5 instead of separately specifying Small thumb and Small fingers F2-5. owl:Class HP:0006265 biolink:NamedThing Aplasia/Hypoplasia of fingers Small/hypoplastic or absent/aplastic fingers. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped fingers|Absent/small fingers UMLS:C4025071 peter 2008-03-28T03:09:00Z human_phenotype owl:Class GO:0007548 biolink:NamedThing sex differentiation The establishment of the sex of an organism by physical differentiation. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Sexual_differentiation biological_process owl:Class HP:0000132 biolink:NamedThing Menorrhagia Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. tmpxe7fu0cj_hp_relaxed.owl Hypermenorrhea|Abnormally heavy bleeding during menstruation|Abnormally heavy periods SNOMEDCT_US:386692008|UMLS:C0025323|MSH:D008595 HP:0100609 owl:Class HP:0010699 biolink:NamedThing Triangular nuclear cataract A nuclear cataract with a triangular form. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023733 peter 2010-03-20T02:58:26Z human_phenotype owl:Class HP:0032542 biolink:NamedThing Exacerbated by pregnancy Applied to a sign or symptom that is worsened by being pregnant. tmpxe7fu0cj_hp_relaxed.owl 2019-05-27 15:16:46+00:00 peter owl:Class GO:0022032 biolink:NamedThing telencephalon oligodendrocyte cell migration The multiplication or reproduction of telencephalon oligodendrocyte cells, resulting in the expansion of a cell population. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0022030 biolink:NamedThing telencephalon glial cell migration The orderly movement of glial cells through the telencephalon. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0007088 biolink:NamedThing regulation of mitotic nuclear division Any process that modulates the frequency, rate or extent of mitosis. tmpxe7fu0cj_hp_relaxed.owl regulation of mitosis biological_process owl:Class GO:0019730 biolink:NamedThing antimicrobial humoral response An immune response against microbes mediated through a body fluid. Examples of this process are seen in the antimicrobial humoral response of Drosophila melanogaster and Mus musculus. tmpxe7fu0cj_hp_relaxed.owl GO:0006960|GO:0019735 biological_process owl:Class GO:0006959 biolink:NamedThing humoral immune response An immune response mediated through a body fluid. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Humoral_immunity biological_process owl:Class HP:0011652 biolink:NamedThing Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. tmpxe7fu0cj_hp_relaxed.owl DORV with doubly committed VSD|Double outlet right ventricle, doubly committed ventricular septal defect Fyler:0604|UMLS:C4023247|Fyler:604 peter 2012-04-09T10:05:46Z human_phenotype owl:Class HP:0001719 biolink:NamedThing Double outlet right ventricle Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. tmpxe7fu0cj_hp_relaxed.owl Double-outlet right ventricle|DORV UMLS:C0013069|Fyler:606|MSH:D004310|SNOMEDCT_US:7484005|Fyler:600 During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. human_phenotype owl:Class HP:0410057 biolink:NamedThing Increased level of D-threitol in plasma An increase in the level of D-threitol in the plasma. tmpxe7fu0cj_hp_relaxed.owl 2018-01-27 02:34:34+00:00 D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans. ORCID:0000-0001-5208-3432 owl:Class HP:0004372 biolink:NamedThing Reduced consciousness/confusion tmpxe7fu0cj_hp_relaxed.owl Disturbances of consciousness|Lowered consciousness|Reduced consciousness/confusion SNOMEDCT_US:3006004|UMLS:C0234428 peter 2008-03-18T07:12:00Z human_phenotype owl:Class UBERON:0006235 biolink:NamedThing foregut-midgut junction An anatomical junctions that overlaps the foregut and midgut. tmpxe7fu0cj_hp_relaxed.owl VHOG:0000291|EMAPA:16363|EHDAA:526|EHDAA2:0000569 uberon owl:Class Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[well established][VHOG] HP:0011405 biolink:NamedThing Childhood onset short-limb short stature tmpxe7fu0cj_hp_relaxed.owl Short-limb dwarfism identifiable during childhood UMLS:C1867487 peter 2012-03-15T09:44:56Z HP:0003523 human_phenotype owl:Class GO:1903047 biolink:NamedThing mitotic cell cycle process A process that is part of the mitotic cell cycle. tmpxe7fu0cj_hp_relaxed.owl jl 2014-05-22T14:22:34Z biological_process owl:Class GO:1901880 biolink:NamedThing negative regulation of protein depolymerization Any process that stops, prevents or reduces the frequency, rate or extent of protein depolymerization. tmpxe7fu0cj_hp_relaxed.owl inhibition of protein polymer breakdown|down-regulation of protein polymer degradation|downregulation of protein depolymerization|down-regulation of protein depolymerization|down-regulation of protein polymer breakdown|downregulation of protein polymer breakdown|down regulation of protein polymer catabolic process|down-regulation of protein polymer catabolism|down regulation of protein polymer catabolism|inhibition of protein polymer catabolism|negative regulation of protein polymer catabolism|negative regulation of protein polymer catabolic process|down-regulation of protein polymer catabolic process|down regulation of protein polymer breakdown|downregulation of protein polymer degradation|downregulation of protein polymer catabolic process|inhibition of protein polymer catabolic process|negative regulation of protein polymer breakdown|inhibition of protein polymer degradation|downregulation of protein polymer catabolism|inhibition of protein depolymerization|down regulation of protein polymer degradation|down regulation of protein depolymerization|negative regulation of protein polymer degradation rl 2013-02-06T13:57:28Z biological_process owl:Class UBERON:0003952 biolink:NamedThing anterior stroma of cornea The anterior segment of the lamellated connective tissue layer of the cornea. tmpxe7fu0cj_hp_relaxed.owl cornea anterior stroma|anterior stroma EMAPA:37414 uberon owl:Class GO:2001037 biolink:NamedThing positive regulation of tongue muscle cell differentiation Any process that activates or increases the frequency, rate or extent of tongue muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-08-24T11:10:22Z biological_process owl:Class HP:0001194 biolink:NamedThing Abnormalities of placenta or umbilical cord An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta). tmpxe7fu0cj_hp_relaxed.owl Abnormalities of placenta or umbilical cord UMLS:C4025798 human_phenotype owl:Class HP:0008237 biolink:NamedThing Hypothalamic hypothyroidism A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity. tmpxe7fu0cj_hp_relaxed.owl Tertiary hypothyroidism UMLS:C0220998|SNOMEDCT_US:37429009 The simultaneous occurrence a low thyroid hormone level and a normal or low serum level of thyroid stimulating hormone (TSH) in a patient with hypothyroidism establishes the diagnosis of secondary hypothyroidism. The administration of thyrotropin releasing hormone (TRH), which is normally synthesized and released by the hypothalamus, enables the physician to distinguish between pituitary and hypothalamic causes of hypothyroidism. TRH will normally cause the release of TSH from the pituitary gland. When the hypothalamus does not synthesize or release TRH, the administration of exogenous TRH will result in prompt rise of serum TSH. To date, the cases reported of pituitary hypothyroidism. Hypothalamic hypothyroidism, on the other hand, may either be idiopathic or result from demonstrable hypothalamic disease. human_phenotype owl:Class UBERON:0016919 biolink:NamedThing lower vermilion A vermilion that is part of a lower lip. tmpxe7fu0cj_hp_relaxed.owl vermilion of lower lip|vermilion border of lower lip SCTID:245800000|FMA:59828 uberon owl:Class UBERON:0018150 biolink:NamedThing skin of lower lip A zone of skin that is part of a lower lip. tmpxe7fu0cj_hp_relaxed.owl lower lip skin SCTID:281630002|FMA:24767 uberon owl:Class HP:0009427 biolink:NamedThing Triangular shaped distal phalanx of the 3rd finger Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped outermost bone of the middle finger UMLS:C4024370 doelkens 2009-01-14T03:16:46Z human_phenotype owl:Class HP:0009875 biolink:NamedThing Triangular shaped distal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Triangular shaped outermost bone of the hand UMLS:C4024176 doelkens 2009-03-11T01:53:07Z HP:0006061|HP:0009842 human_phenotype owl:Class HP:0008660 biolink:NamedThing Renotubular dysgenesis A developmental defect characterized by absence or poor development of proximal renal tubules. tmpxe7fu0cj_hp_relaxed.owl Renal tubular dysgenesis MSH:C537048|UMLS:C0266313|SNOMEDCT_US:702397002 Renotubular dysgenesis is generally accompanied by early onset and persistent oligohydramnios that leads to the Potter sequence. human_phenotype owl:Class HP:0000091 biolink:NamedThing Abnormal renal tubule morphology An abnormality of the renal tubules. tmpxe7fu0cj_hp_relaxed.owl Morphologic abnormality of the renal tubules|Abnormality of the renal tubule UMLS:C4021826 The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine. human_phenotype owl:Class UBERON:0001775 biolink:NamedThing ciliary body The thickened portion of the vascular tunic, which lies between the choroid and the iris, composed of ciliary muscle and ciliary processes. tmpxe7fu0cj_hp_relaxed.owl ciliary bodies|ocular ciliary body|corpus ciliare|anterior uvea Wikipedia:Ciliary_body|XAO:0000186|VHOG:0000102|FMA:58295|EV:0100346|GAID:916|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1571|NCIT:C12345|CALOHA:TS-0694|UMLS:C0008779|AAO:0010341|EMAPA:19065|MA:0000264|MESH:D002924|BTO:0000260|SCTID:263340007 http://upload.wikimedia.org/wikipedia/commons/1/1e/Schematic_diagram_of_the_human_eye_en.svg uberon owl:Class The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG] HP:0002181 biolink:NamedThing Cerebral edema Abnormal accumulation of fluid in the brain. tmpxe7fu0cj_hp_relaxed.owl Brain edema|Cerebral oedema|Brain swelling|Swelling of brain|Brain oedema UMLS:C1527311|SNOMEDCT_US:2032001|UMLS:C0006114|MSH:D001929 Cerebral edema refers to swelling within brain tissue due to the accumulation of fluid, and can occur as in response to almost any insulting agent. Edema canbe observed in and around regions of dead or dying brain, around metastases and abscesses, after traumatic injury, following hypoxic ischemic injury, and around primary brain tumors. There are at least five different types of edema: vasogenic, cytotoxic, hydrostatic, interstitial, and hypoosmotic. Three effects of edema are visible on imaging: (i) loss of gray-white matter differentiation; (ii) swelling of sulci (shrinking of gyri); and (iii) mass effects. On CT scanning, extensive low density may represent vasogenic edema. As the brain swells, not only do the sulci decrease, but all of the CSF spaces of the hemispheres (including the ventricles) decrease as well. Magnetic resonance tomography may show abnormalities of diffusion-weighted imaging (DWI), and Fluid attenuation inversion recovery (FLAIR) sequences. Phenotype terms involving cerebral edema thus reflect inference about the underlying processes responsible for these abnormalities on brain imaging. human_phenotype owl:Class GO:1903950 biolink:NamedThing negative regulation of AV node cell action potential Any process that stops, prevents or reduces the frequency, rate or extent of AV node cell action potential. tmpxe7fu0cj_hp_relaxed.owl downregulation of AV node cardiac muscle cell action potential|negative regulation of AV node cardiac muscle cell action potential|downregulation of atrioventricular node cardiac muscle cell action potential|inhibition of AV node cell action potential|inhibition of AV node cardiac muscle cell action potential|down regulation of AV node cardiac muscle cell action potential|inhibition of atrioventricular node cardiac muscle cell action potential|down-regulation of AV node cell action potential|down-regulation of atrioventricular node cardiac muscle cell action potential|down-regulation of AV node cardiac muscle cell action potential|downregulation of AV node cell action potential|negative regulation of atrioventricular node cardiac muscle cell action potential|down regulation of atrioventricular node cardiac muscle cell action potential|down regulation of AV node cell action potential nc 2015-02-20T14:59:41Z biological_process owl:Class HP:0006414 biolink:NamedThing Distal tibial bowing A bending or abnormal curvature of the distal portion of the tibia. tmpxe7fu0cj_hp_relaxed.owl Tibial bowing at ankle|Bowing of the distal tibia UMLS:C4021598 human_phenotype owl:Class GO:0031116 biolink:NamedThing positive regulation of microtubule polymerization Any process that activates or increases the frequency, rate or extent of microtubule polymerization. tmpxe7fu0cj_hp_relaxed.owl up regulation of microtubule polymerization|upregulation of microtubule polymerization|up-regulation of microtubule polymerization|stimulation of microtubule polymerization|activation of microtubule polymerization biological_process owl:Class GO:0032273 biolink:NamedThing positive regulation of protein polymerization Any process that activates or increases the frequency, rate or extent of the process of creating protein polymers. tmpxe7fu0cj_hp_relaxed.owl activation of protein polymerization|up-regulation of protein polymerization|stimulation of protein polymerization|upregulation of protein polymerization|up regulation of protein polymerization biological_process owl:Class UBERON:0013507 biolink:NamedThing thoracic vertebra cartilage element A thoracic vertebra endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl thoracic vertebral cartilage condensation group EHDAA2:0002014 uberon owl:Class UBERON:0011094 biolink:NamedThing vertebra cartilage element The cartilaginous form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl vertebral cartilage condensation EMAPA:32669|VHOG:0000584 uberon owl:Class This class is a superclass of individual vertebral cartilage condensations. Note that EHDAA2 represents these as condensation groups GO:0010693 biolink:NamedThing negative regulation of alkaline phosphatase activity Any process that decreases the frequency, rate or extent of alkaline phosphatase activity, the catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0003353 biolink:NamedThing positive regulation of cilium movement Any process that increases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. tmpxe7fu0cj_hp_relaxed.owl positive regulation of flagellum movement|positive regulation of flagellar movement|positive regulation of microtubule-based flagellum movement Note that we deem cilium and microtubule-based flagellum to be equivalent. dph 2009-12-03T10:16:10Z GO:1900174 biological_process owl:Class GO:0051272 biolink:NamedThing positive regulation of cellular component movement Any process that activates or increases the frequency, rate or extent of the movement of a cellular component. tmpxe7fu0cj_hp_relaxed.owl positive regulation of cellular component motion biological_process owl:Class PATO:0000596 biolink:NamedThing decreased volume A volume which is relatively low. tmpxe7fu0cj_hp_relaxed.owl low volume|small volume quality owl:Class HP:0000169 biolink:NamedThing Gingival fibromatosis The presence of fibrosis of the gingiva. tmpxe7fu0cj_hp_relaxed.owl Hereditary gingival fibromatosis|Gingival fibrous nodules|Idiopathic gingival hyperplasia|Gingival fibroma MSH:C562884|MSH:D005351|SNOMEDCT_US:109620006|UMLS:C4280677|SNOMEDCT_US:58569000|UMLS:C0399440|NCIT:C3041|UMLS:C0016049 Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported. human_phenotype owl:Class GO:0005730 biolink:NamedThing nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Nucleolus|NIF_Subcellular:sao1820400233 cellular_component owl:Class GO:0043232 biolink:NamedThing intracellular non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. tmpxe7fu0cj_hp_relaxed.owl intracellular non-membrane-enclosed organelle cellular_component owl:Class GO:0120278 biolink:NamedThing negative regulation of cerebral blood circulation Any process that stops, prevents or reduces the frequency, rate or extent of cerebral blood circulation. tmpxe7fu0cj_hp_relaxed.owl down regulation of cerebral blood circulation|downregulation of cerebral blood circulation|negative regulation of telencephalon blood circulation|down-regulation of cerebral blood circulation|negative regulation of cerebrum blood circulation|inhibition of cerebral blood circulation https://github.com/geneontology/go-ontology/issues/20107 krc 2020-10-21T07:02:05Z biological_process owl:Class HP:0033079 biolink:NamedThing Aplasia/Hypoplasia of the thyroid gland Absence or underdevelopment of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011772 biolink:NamedThing Abnormal thyroid morphology A structural abnormality of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of thyroid gland|Abnormality of thyroid morphology UMLS:C4023195 peter 2012-04-22T05:54:57Z owl:Class UBERON:0001092 biolink:NamedThing vertebral bone 1 The first vertebral bone in the vertebral column. tmpxe7fu0cj_hp_relaxed.owl atlas|atlas vertebra|cervical vertebra 1|C1|atlas (CI)|first cervical vertebra|vertebra 1|atlas [C I]|cervical atlas|C1 vertebra MESH:A02.835.232.834.151.213|EMAPA:19431|FMA:12519|TAO:0001167|UMLS:C0004170|MA:0001421|GAID:236|NCIT:C32239|AAO:0000709|EHDAA:10606|ZFA:0001167 uberon owl:Class First postcranial vertebra, which is modified anteriorly to articulate with the skull.[AAO]|Vertebra that is posteriorly adjacent to the neurocranium.[TAO] 1 HP:0100121 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the middle bone of the 2nd toe UMLS:C4022300 doelkens 2010-06-24T10:05:37Z human_phenotype owl:Class UBERON:0003826 biolink:NamedThing upper leg bone A bone that is part of a hindlimb stylopod [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl femur MA:0000682|EMAPA:35893 May be merged into femur. See https://sourceforge.net/tracker/index.php?func=detail&aid=3586533&group_id=76834&atid=1205376 uberon owl:Class UBERON:0001145 biolink:NamedThing ovarian vein A vein that carries deoxygenated blood from its corresponding ovary to inferior vena cava or one of its tributaries. tmpxe7fu0cj_hp_relaxed.owl gonada of female reproductive system vein|vein of female reproductive system gonad|female reproductive system gonada vein|vein of female reproductive system gonada|vein of gonad of female reproductive system|gonad of female reproductive system vein|vein of ovary|vena ovarica dextra|vena ovarica sinistra|ovary vein|vein of gonada of female reproductive system|female reproductive system gonad vein OpenCyc:Mx4rvrST5ZwpEbGdrcN5Y29ycA|MA:0002186|UMLS:C0226720|NCIT:C53058|FMA:14346|EMAPA:18644|SCTID:278193003|Wikipedia:Ovarian_vein http://upload.wikimedia.org/wikipedia/commons/c/cf/Ovarschaf.jpg uberon owl:Class GO:0045578 biolink:NamedThing negative regulation of B cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of B cell differentiation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of B cell differentiation|inhibition of B cell differentiation|negative regulation of B lymphocyte differentiation|downregulation of B cell differentiation|negative regulation of B-cell differentiation|negative regulation of B cell development|negative regulation of B-lymphocyte differentiation|down regulation of B cell differentiation Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. biological_process owl:Class UBERON:0005897 biolink:NamedThing manus bone A bone that is part of the manus skeleton. Note that this includes the carpal bones. tmpxe7fu0cj_hp_relaxed.owl hand bone|bone of pectoral limb autopod|forelimb autopod bone|bone of hand|bone of manus|bone of pectoral limb autopodium|bone of hand skeleton|forelimb autopodium bone MA:0000619|EMAPA:35391 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Skeleton-partonomy-Design-Pattern HP:0100066 biolink:NamedThing Absent epiphyses of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the 4th toe bone UMLS:C4022355 doelkens 2010-06-24T09:59:30Z human_phenotype owl:Class HP:0032497 biolink:NamedThing Reduced terminal:vellus ratio A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia. tmpxe7fu0cj_hp_relaxed.owl 2019-04-12 11:38:06+00:00 An decreased proportion of terminal hairs compared to vellus hairs. peter owl:Class HP:0032495 biolink:NamedThing Abnormal terminal:vellus ratio A deviation from the normal proportion of terminal to vellus hairs. tmpxe7fu0cj_hp_relaxed.owl 2019-04-12 11:32:25+00:00 Scalp hairs comprise large terminal hairs and small vellus hairs. Terminal hairs are conspicuous and exceed 0.03 mm in diameter and 1 cm in length, and may be pigmented and medullated. Vellus hairs are inconspicuous and are 0.03 mm or less in diameter and less than 1 cm in length and lack melanin and medulla. peter owl:Class GO:0050941 biolink:NamedThing negative regulation of pigment cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of pigment cell differentiation. tmpxe7fu0cj_hp_relaxed.owl downregulation of pigment cell differentiation|down regulation of pigment cell differentiation|inhibition of pigment cell differentiation|down-regulation of pigment cell differentiation biological_process owl:Class GO:0048086 biolink:NamedThing negative regulation of developmental pigmentation Any process that decreases the frequency, rate or extent of the developmental process that results in the deposition of coloring matter in an organism. tmpxe7fu0cj_hp_relaxed.owl downregulation of developmental pigmentation|inhibition of pigmentation|down regulation of developmental pigmentation|down-regulation of developmental pigmentation biological_process owl:Class HP:0003764 biolink:NamedThing Nevus A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. tmpxe7fu0cj_hp_relaxed.owl Naevus|Nevi|Naevi|Mole UMLS:C0027960|SNOMEDCT_US:21119008|SNOMEDCT_US:51697005|MSH:D009508|UMLS:C0027962|SNOMEDCT_US:400096001|MSH:D009506 The word Nevus derives from the Latin word Knee-vus meaning birthmark or mole. human_phenotype owl:Class UBERON:0000475 biolink:NamedThing organism subdivision Anatomical structure which is a subdivision of a whole organism, consisting of components of multiple anatomical systems, largely surrounded by a contiguous region of integument. tmpxe7fu0cj_hp_relaxed.owl body part|cardinal body part|anatomic region|body region Wikipedia:Body_part|EMAPA:36031|ZFA:0001308|MAT:0000293|AEO:0000032|AAO:0010053|MA:0002433|BIRNLEX:7|CARO:0000032|OpenCyc:Mx4rvViAHJwpEbGdrcN5Y29ycA|HAO:0000032|XAO:0003013|TGMA:0001840|EFO:0000808|CALOHA:TS-2084|FBbt:00007009|MESH:D001829|BILA:0000032|MIAA:0000293|UMLS:C0229962|galen:BodyPart|EHDAA2:0003032|VHOG:0001758|FMA:7153|NCIT:C32221|TAO:0001308 Reflects CARO2. todo - check the inclusion of FMA 'cardinal body part here', and check child terms for consistency uberon owl:Class HP:0010627 biolink:NamedThing Anterior pituitary hypoplasia Underdevelopment of the anterior pituitary gland. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped pituitary gland|Hypoplasia of the pituitary gland UMLS:C0948740|UMLS:C1859775 peter 2009-12-05T03:04:48Z HP:0008238 human_phenotype owl:Class HP:0010625 biolink:NamedThing Anterior pituitary dysgenesis Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis. tmpxe7fu0cj_hp_relaxed.owl Adenohypophysis UMLS:C4023771|SNOMEDCT_US:62818001|UMLS:C0032008|MSH:D010903 peter 2009-12-05T03:03:17Z human_phenotype owl:Class HP:0030383 biolink:NamedThing Abnormal proportion of marginal zone B cells A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072921 owl:Class GO:0060922 biolink:NamedThing atrioventricular node cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an atrioventricular (AV) node cell. AV node cells are pacemaker cells that are found in the atrioventricular node. tmpxe7fu0cj_hp_relaxed.owl AV node cell differentiation dph 2009-09-29T11:07:06Z biological_process owl:Class UBERON:0004264 biolink:NamedThing lower leg skin A zone of skin that is part of a lower leg [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hind limb zeugopod skin|hind limb middle limb segment skin MA:0000680|EMAPA:18156 uberon owl:Class UBERON:0001511 biolink:NamedThing skin of leg A zone of skin that is part of a leg [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl zone of skin of leg|leg skin|leg zone of skin MA:0000674|EMAPA:18156|UMLS:C0222279|NCIT:C52749|FMA:37828|EMAPA:18159|EMAPA:37352 uberon owl:Class HP:0010704 biolink:NamedThing 1-2 finger syndactyly Syndactyly with fusion of fingers one and two. tmpxe7fu0cj_hp_relaxed.owl Webbed thumb and index finger|Webbed 1st-2nd finger UMLS:C4023732 sdoelken 2010-03-26T05:07:14Z owl:Class HP:0005882 biolink:NamedThing Dermatoglyphic variants tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025116 human_phenotype owl:Class HP:0001018 biolink:NamedThing Abnormal palmar dermatoglyphics An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025810 human_phenotype owl:Class GO:0002449 biolink:NamedThing lymphocyte mediated immunity Any process involved in the carrying out of an immune response by a lymphocyte. tmpxe7fu0cj_hp_relaxed.owl cellular immune response|cell-mediated immunity biological_process owl:Class GO:0002443 biolink:NamedThing leukocyte mediated immunity Any process involved in the carrying out of an immune response by a leukocyte. tmpxe7fu0cj_hp_relaxed.owl leucocyte immune effector process|cellular immune response|leucocyte mediated immunity|immune cell effector process|cell-mediated immune response|leukocyte immune effector process|immune cell mediated immunity GO:0019723|GO:0042087 biological_process owl:Class HP:0012190 biolink:NamedThing T-cell lymphoma A type of lymphoma that originates in T-cells. tmpxe7fu0cj_hp_relaxed.owl T cell lymphoma UMLS:C0079772|MSH:D016399|SNOMEDCT_US:3172003|SNOMEDCT_US:109978004 peter 2013-02-27T06:56:11Z owl:Class HP:0001508 biolink:NamedThing Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. tmpxe7fu0cj_hp_relaxed.owl Undergrowth|Weight faltering|Poor weight gain|Faltering weight|Postnatal failure to thrive SNOMEDCT_US:432788009|SNOMEDCT_US:36440009|UMLS:C0231246|UMLS:C2315100 Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). HP:0001535|HP:0008916|HP:0008878|HP:0008853 human_phenotype owl:Class CHEBI:17822 biolink:NamedThing serine An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group. tmpxe7fu0cj_hp_relaxed.owl serine|2-Amino-3-hydroxypropionic acid|Serin|Serine|2-amino-3-hydroxypropanoic acid|3-Hydroxyalanine 0 C3H7NO3 InChI=1S/C3H7NO3/c4-2(1-5)3(6)7/h2,5H,1,4H2,(H,6,7) MTCFGRXMJLQNBG-UHFFFAOYSA-N 105.09262 105.04259 NC(CO)C(O)=O KNApSAcK:C00001393|Reaxys:1721402|Wikipedia:Serine|Gmelin:26429|KEGG:C00716|CAS:302-84-1|Beilstein:1721402 CHEBI:15081|CHEBI:26648|CHEBI:9116 chebi_ontology owl:Class GO:1903551 biolink:NamedThing regulation of extracellular exosome assembly Any process that modulates the frequency, rate or extent of extracellular vesicular exosome assembly. tmpxe7fu0cj_hp_relaxed.owl regulation of extracellular vesicular exosome assembly pga 2014-10-20T15:37:25Z biological_process owl:Class CHEBI:60039 biolink:NamedThing L-proline zwitterion The zwitterion formed from L-proline by proton transfer from the carboxy group to the ring nitrogen. It is the predominant species at physiological pH. tmpxe7fu0cj_hp_relaxed.owl L-proline|(2S)-pyrrolidinium-2-carboxylate 0 C5H9NO2 InChI=1S/C5H9NO2/c7-5(8)4-2-1-3-6-4/h4,6H,1-3H2,(H,7,8)/t4-/m0/s1 ONIBWKKTOPOVIA-BYPYZUCNSA-N 115.13050 115.06333 [O-]C(=O)[C@@H]1CCC[NH2+]1 MetaCyc:PRO CHEBI:58054 chebi_ontology owl:Class UBERON:0005310 biolink:NamedThing pronephric nephron tubule The pronephric nephron tubule is an epithelial tube that is part of the pronephric nephron and connects the filtration unit (glomerulus or glomus) of the pronephros to the pronephric duct[GO]. tmpxe7fu0cj_hp_relaxed.owl ciliated neck segment|pronephric tubule XAO:0004105|TAO:0001558|ZFA:0001558 uberon owl:Class Bilaterally paired tubes connecting the pronephric glomeruli to the pronephric ducts. In zebrafish and other teleosts, the pronephric nephron and tubules form after the pronephric duct, connecting to the anterior-most tip of the pronephric ducts. Drummond, 2000.[TAO] HP:0001095 biolink:NamedThing Hypertensive retinopathy tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:6962006|UMLS:C0152132|MSH:D058437 human_phenotype owl:Class HP:0410012 biolink:NamedThing Abnormal mouth floor morphology Any abnormality of the mouth floor. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the floor of mouth|Abnormality of the mouth floor UMLS:C4073191 owl:Class UBERON:0006608 biolink:NamedThing corpus cavernosum clitoridis The corpus cavernosum clitoridis is one of a pair of sponge-like regions of erectile tissue which contain most of the blood in the clitoris during clitoral erection. This is homologous to the corpus cavernosum penis in the male; the body of the clitoris contains erectile tissue in a pair of corpora cavernosa (literally 'cave-like bodies'), with a recognisably similar structure. tmpxe7fu0cj_hp_relaxed.owl cavernous body of clitoris|corpus cavernosum clitoridis|clitoral corpus cavernosum|corpus cavernosum of clitoris|corpus cavernosum BTO:0002018|FMA:20172 http://upload.wikimedia.org/wikipedia/commons/8/8c/Clitoris_inner_anatomy.gif uberon owl:Class HP:0033345 biolink:NamedThing Neuralgia Pain (An unpleasant sensory and emotional experience) along the course of a nerve. tmpxe7fu0cj_hp_relaxed.owl 2020-11-30 17:57:46+00:00 peter owl:Class HP:0007707 biolink:NamedThing Congenital aphakia Absence of the crystalline lens of the eye as a result of a developmental defect. tmpxe7fu0cj_hp_relaxed.owl Lens agenesis UMLS:C1853230|MSH:C537786 human_phenotype owl:Class GO:0099123 biolink:NamedThing somato-dendritic dopamine secretion The regulated release of dopamine from the somatodendritic compartment (cell body or dendrites) of a neuron. tmpxe7fu0cj_hp_relaxed.owl STD dopamine release|somatodendritic dopamine release|STD DA release biological_process owl:Class GO:0014046 biolink:NamedThing dopamine secretion The regulated release of dopamine by a cell. Dopamine is a catecholamine and a precursor of adrenaline and noradrenaline. It acts as a neurotransmitter in the central nervous system but it is also produced peripherally and acts as a hormone. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0015789 biolink:NamedThing cranial or facial muscle tmpxe7fu0cj_hp_relaxed.owl craniofacial muscle|cranial-facial muscle|cranio-facial muscle|cranial/facial muscle EMAPA:25133|MA:0000579 see also, 'facial nerve muscle', which is not precisely equivalent. We include this grouping to accomodate the MA class, which includes masticatory muscle as a subtype; note the masticatory muscle is noy innervated by the facial nerve, unlike the facial muscles proper uberon owl:Class UBERON:0002376 biolink:NamedThing cranial muscle Any skeletal muscle that is part of the head region. tmpxe7fu0cj_hp_relaxed.owl adult head muscle organ|cranial muscle|muscle organ of adult head|muscle organ of head|cephalic musculature|cephalic muscle|head muscle organ|head muscle|head muscles|muscle of head|musculus caput EHDAA2:0000322|SCTID:244718003|EFO:0003524|EMAPA:18172|AAO:0000107|FMA:9616|ZFA:0001652|BTO:0000021|MA:0000578 defined generically so could in theory encompass FBbt:00003260 'skeletal muscle of head', or the muscle of a starfish Aristotle's lantern, but we restrict this to craniates. Skeletal muscles of the head originate from the non-segmented head mesoderm (Noden, 1983; Wachtler et al., 1984) UBERON:0003899 uberon owl:Class HP:0001230 biolink:NamedThing Broad metacarpals Abnormally broad metacarpal bones. tmpxe7fu0cj_hp_relaxed.owl Wide long bones of hand|Wide metacarpals UMLS:C1842229 HP:0006024|HP:0006065 human_phenotype owl:Class UBERON:0004491 biolink:NamedThing cardiac muscle tissue of interatrial septum A portion of cardiac muscle tissue that is part of a interatrial septum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl interatrial septum muscle|interatrial septum cardiac muscle tissue|interatrial septum myocardium|interatrial septum heart muscle FMA:84083 uberon owl:Class HP:0032950 biolink:NamedThing Abnormal renal tubular lumen morphology Abnormal structure or form of the lumen (opening) of kidney tubules. tmpxe7fu0cj_hp_relaxed.owl Abnormal renal tubular luminal morphology peter owl:Class NCBITaxon:314146 biolink:NamedThing Euarchontoglires tmpxe7fu0cj_hp_relaxed.owl GC_ID:1|PMID:12082125|PMID:11214319|PMID:12878460|PMID:15522813 ncbi_taxonomy owl:Class NCBITaxon:1437010 biolink:NamedThing Boreoeutheria tmpxe7fu0cj_hp_relaxed.owl Boreotheria PMID:11743200|PMID:11791233|GC_ID:1 ncbi_taxonomy owl:Class GO:0051251 biolink:NamedThing positive regulation of lymphocyte activation Any process that activates or increases the frequency, rate or extent of lymphocyte activation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of lymphocyte activation|upregulation of lymphocyte activation|activation of lymphocyte activation|stimulation of lymphocyte activation|up regulation of lymphocyte activation biological_process owl:Class HP:0009386 biolink:NamedThing Fragmentation of the epiphyses of the 5th finger Fragmented appearance of the epiphyses of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the pinkie finger bones|Fragmentation of the end part of the little finger bones|Fragmentation of the end part of the pinky finger bones UMLS:C4024403 doelkens 2009-01-13T01:19:03Z human_phenotype owl:Class UBERON:0022288 biolink:NamedThing surface of eyeball tmpxe7fu0cj_hp_relaxed.owl surface of region of wall of eyeball FMA:58315 uberon owl:Class HP:0000690 biolink:NamedThing Agenesis of maxillary lateral incisor Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor. tmpxe7fu0cj_hp_relaxed.owl Absence of maxillary lateral incisor|Absent upper lateral incisors|Missing maxillary lateral incisor|Absence of upper lateral incisor|Missing upper lateral incisor|Failure of development of maxillary lateral incisor UMLS:C4083046|UMLS:C1849950 human_phenotype owl:Class HP:0200160 biolink:NamedThing Agenesis of maxillary incisor tmpxe7fu0cj_hp_relaxed.owl Absence of maxillary incisor|Failure of development of upper incisor|Missing upper incisor|Missing upper front tooth|Absence of upper front tooth|Failure of development of maxillary incisor UMLS:C4021877|UMLS:C4280279|UMLS:C4280278 owl:Class CL:0000459 biolink:NamedThing noradrenergic cell A cell capable of producting norepiniphrine. Norepiniphrine is a catecholamine with multiple roles including as a hormone and a neurotransmitter. In addition, epiniphrine is synthesized from norepiniphrine by the actions of the phenylethanolamine N-methyltransferase enzyme. tmpxe7fu0cj_hp_relaxed.owl norepinephrine secreting cell|norepinephrin secreting cell|noradrenaline secreting cell cell owl:Class UBERON:0006286 biolink:NamedThing radius cartilage element A cartilaginous condensation that has the potential to develop into a radius bone. tmpxe7fu0cj_hp_relaxed.owl VHOG:0001318|EMAPA:18054|EHDAA2:0001585|EHDAA:7267 uberon owl:Class UBERON:0010883 biolink:NamedThing forelimb cartilage element A cartilaginous condensation that has the potential to develop into a forelimb bone. tmpxe7fu0cj_hp_relaxed.owl forelimb wing cartilaginous condensation|wing cartilaginous condensation EMAPA:32626 uberon owl:Class UBERON:0018589 biolink:NamedThing lower first primary molar tooth tmpxe7fu0cj_hp_relaxed.owl lower primary molar 1|lower primary tooth D|lower first deciduous molar tooth FMA:84212 TODO - tooth numbering nomeculature to be aligned across species uberon owl:Class UBERON:0013620 biolink:NamedThing lower primary molar tooth A primary molar tooth that is part of a lower jaw region. tmpxe7fu0cj_hp_relaxed.owl primary lower molar tooth|lower deciduous molar tooth FMA:84213 uberon owl:Class GO:0051683 biolink:NamedThing establishment of Golgi localization The directed movement of the Golgi to a specific location. tmpxe7fu0cj_hp_relaxed.owl establishment of Golgi body localization|establishment of Golgi localisation|establishment of Golgi apparatus localization biological_process owl:Class HP:0032565 biolink:NamedThing Vaginal mucosal ulceration tmpxe7fu0cj_hp_relaxed.owl 2019-06-19 10:17:59+00:00 A breach of the continuity of the mucous membrane of the vagina caused by sloughing out of inflamed necrotic tissue, usually associated with eschars (slough or piece of dead tissue) and with violaceous to erythematous borders. peter owl:Class CHEBI:16782 biolink:NamedThing (S)-2-hydroxyglutarate(2-) A 2-hydroxyglutarate(2-) that has (2S)-configuration. tmpxe7fu0cj_hp_relaxed.owl (S)-2-hydroxyglutarate|(2S)-2-hydroxypentanedioate -2 C5H6O5 InChI=1S/C5H8O5/c6-3(5(9)10)1-2-4(7)8/h3,6H,1-2H2,(H,7,8)(H,9,10)/p-2/t3-/m0/s1 HWXBTNAVRSUOJR-VKHMYHEASA-L 146.09814 146.02262 O[C@@H](CCC([O-])=O)C([O-])=O Beilstein:5257108|MetaCyc:CPD-381|KEGG:C03196|Reaxys:5257108 CHEBI:11036|CHEBI:18738 chebi_ontology owl:Class CHEBI:11596 biolink:NamedThing 2-hydroxyglutarate(2-) A dicarboxylic acid dianion resulting from the removal of a proton from both of the carboxylic acid groups of 2-hydroxyglutaric acid. tmpxe7fu0cj_hp_relaxed.owl 2-hydroxypentanedioate|2-hydroxyglutarate -2 C5H6O5 InChI=1S/C5H8O5/c6-3(5(9)10)1-2-4(7)8/h3,6H,1-2H2,(H,7,8)(H,9,10)/p-2 HWXBTNAVRSUOJR-UHFFFAOYSA-L 146.09814 146.02262 OC(CCC([O-])=O)C([O-])=O Reaxys:5736650|MetaCyc:2-HYDROXYGLUTARIC_ACID|Beilstein:5736650 chebi_ontology owl:Class HP:0001710 biolink:NamedThing Conotruncal defect A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. tmpxe7fu0cj_hp_relaxed.owl Conotruncal heart defects UMLS:C1853238 human_phenotype owl:Class HP:0011563 biolink:NamedThing Abnormal ventriculoarterial connection An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. tmpxe7fu0cj_hp_relaxed.owl Abnormal ventriculo-arterial connection|Abnormal ventriculoarterial connexion UMLS:C4023296 The cardiac malformations with abnormal ventriculo-arterial connections in situs solitus and atrio-ventricular concordance include the tetralogy of Fallot as well as different forms of double-outlet right ventricle and transposition of the great arteries. peter 2012-04-08T07:32:38Z human_phenotype owl:Class HP:0011444 biolink:NamedThing Decorticate rigidity A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus. tmpxe7fu0cj_hp_relaxed.owl MSH:D003655|SNOMEDCT_US:36423000|UMLS:C0231521 Decorticate posturing peter 2012-03-18T03:30:10Z human_phenotype owl:Class UBERON:0007846 biolink:NamedThing dense regular connective tissue Connective tissue that is dominated by collagen fibres organized into a definitive pattern (e.g., parallel to one another), with comparatively fewer cells (mostly fibroblasts). tmpxe7fu0cj_hp_relaxed.owl typus regularis (textus connectivus collagenosus compactus)|dense fibrous connective tissue|regular dense connective tissue|dense regular collagenous connective tissue|dense regular collagenous tissue UMLS:C0225333|SCTID:22560007|VSAO:0000050|XAO:0004030|Wikipedia:Dense_regular_connective_tissue|NCIT:C33453|FMA:64781 uberon owl:Class Regular connective tissue, the intercellular matrix of which consists predominantly of collagen fiber bundles arranged in parallel arrays.[FMA]|Connective tissue that is dominated by collagen fibres organized into a definitive pattern (e.g., parallel to one another), with comparatively fewer cells (mostly fibroblasts).[VSAO] HP:0030484 biolink:NamedThing Supernormal dark-adapted bright flash electroretinogram b-wave tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072974 owl:Class HP:0030478 biolink:NamedThing Abnormal amplitude of dark-adapted bright flash electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072968 owl:Class GO:0090170 biolink:NamedThing regulation of Golgi inheritance Any process that modulates the rate, frequency or extent of Golgi inheritance. Golgi inheritance is the partitioning of Golgi apparatus between daughter cells at cell division. tmpxe7fu0cj_hp_relaxed.owl tb 2009-12-11T10:21:59Z biological_process owl:Class GO:1903358 biolink:NamedThing regulation of Golgi organization Any process that modulates the frequency, rate or extent of Golgi organization. tmpxe7fu0cj_hp_relaxed.owl regulation of Golgi organization and biogenesis|regulation of Golgi organisation als 2014-08-21T10:22:22Z biological_process owl:Class HP:0000563 biolink:NamedThing Keratoconus A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. tmpxe7fu0cj_hp_relaxed.owl Bulging cornea|Conical cornea SNOMEDCT_US:65636009|UMLS:C0022578|MSH:D007640 Keratoconus is an entity characterid by several phenotypic findings such as corneal distortion (secondary to thinning of the apex) and either Fleischer's ring or Vogt's striae. This HPO term intends to denote the finding of corneal distortion and bulge. human_phenotype owl:Class HP:0100692 biolink:NamedThing Increased corneal curvature An increase in the degree of curvature of the cornea compared to normal. tmpxe7fu0cj_hp_relaxed.owl Steep corneal curvature UMLS:C4020956 doelkens 2011-02-18T05:01:31Z human_phenotype owl:Class HP:0009982 biolink:NamedThing Partial duplication of the middle phalanx of the 4th finger Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the middle bone of the ring finger UMLS:C4024130 doelkens 2009-05-26T02:20:37Z human_phenotype owl:Class HP:0011368 biolink:NamedThing Epidermal thickening Thickening of the epidermal layer of the skin. tmpxe7fu0cj_hp_relaxed.owl Abnormality of keratinization UMLS:C4020752|UMLS:C0494876 peter 2012-03-03T12:25:18Z HP:0001035 human_phenotype owl:Class HP:0100903 biolink:NamedThing Sclerosis of the distal phalanx of the 5th finger tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the outermost pinkie finger bone|Increased bone density in the outermost pinky finger bone|Increased bone density in the outermost little finger bone UMLS:C4021939 human_phenotype owl:Class HP:0011478 biolink:NamedThing True anophthalmia Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination. tmpxe7fu0cj_hp_relaxed.owl Complete anophthalmia|Total anophthalmia|Completely missing eyeball UMLS:C2675590 True anophthalmia implies an early failure of eye development. peter 2012-04-01T12:19:11Z human_phenotype owl:Class HP:0000528 biolink:NamedThing Anophthalmia Absence of the globe or eyeball. tmpxe7fu0cj_hp_relaxed.owl Ocular absence|No eyeball|Anophthalmia, clinical|Absence of globes of eyes|Missing eyeball|Clinical anophthalmia, unilateral/bilateral|No globe of eye|Failure of development of eyeball|Absence of eyeballs|Missing globe of eye SNOMEDCT_US:204099004|UMLS:C0003119|Fyler:4864|SNOMEDCT_US:7183006|MSH:D000853 HP:0001485|HP:0007664 human_phenotype owl:Class HP:0009782 biolink:NamedThing Aplasia/Hypoplasia of the biceps Absence or underdevelopment of the biceps muscle. tmpxe7fu0cj_hp_relaxed.owl Absent/small biceps|Absent/underdeveloped biceps UMLS:C4024209 peter 2009-02-03T04:52:01Z human_phenotype owl:Class HP:0011603 biolink:NamedThing Congenital malformation of the great arteries Defect or defects of the morphogenesis of the aorta and pulmonary arteries. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0478012 peter 2012-04-08T02:51:09Z owl:Class GO:0051246 biolink:NamedThing regulation of protein metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein. tmpxe7fu0cj_hp_relaxed.owl regulation of protein metabolism biological_process owl:Class GO:0080090 biolink:NamedThing regulation of primary metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. tmpxe7fu0cj_hp_relaxed.owl dhl 2009-04-22T04:30:52Z biological_process owl:Class UBERON:0010690 biolink:NamedThing manual digit 1 epithelium An epithelium that is part of a manual digit 1. tmpxe7fu0cj_hp_relaxed.owl hand digit 1 epithelium|manual digit I epithelium|fore limb digit 1 epithelium EHDAA2:0000512|EMAPA:17430 uberon owl:Class GO:0042129 biolink:NamedThing regulation of T cell proliferation Any process that modulates the frequency, rate or extent of T cell proliferation. tmpxe7fu0cj_hp_relaxed.owl regulation of T lymphocyte proliferation|regulation of T-cell proliferation|regulation of T-lymphocyte proliferation biological_process owl:Class GO:0043549 biolink:NamedThing regulation of kinase activity Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0004619 biolink:NamedThing Lumbar kyphoscoliosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C1834953 human_phenotype owl:Class HP:0004626 biolink:NamedThing Lumbar scoliosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C2748518 human_phenotype owl:Class HP:0005177 biolink:NamedThing Premature arteriosclerosis Arteriosclerosis occurring at an age that is younger than usual. tmpxe7fu0cj_hp_relaxed.owl Premature hardening of arteries UMLS:C4280503|UMLS:C1848486 human_phenotype owl:Class HP:0002634 biolink:NamedThing Arteriosclerosis Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. tmpxe7fu0cj_hp_relaxed.owl Hardened artery wall SNOMEDCT_US:107671003|SNOMEDCT_US:72092001|UMLS:C0003850|MSH:D001161|UMLS:C4280568|SNOMEDCT_US:28960008 Although arteriosclerosis and atherosclerosis are often used as if they were synonyms, they are not. Atherosclerosis is the most common type of arteriosclerosis, and is caused by plaque building up in the vessel, which in turn causes sclerosis, increased stiffness, and loss of elasticity of the affected arteries. human_phenotype owl:Class HP:0500274 biolink:NamedThing Decreased proportion of immature gamma-delta T cells Decreased proportion of immature gamma-delta T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Decreased proportion of immature gamma-delta T lymphocytes|Decreased proportion of immature gamma-delta T-cells|Decreased proportion of immature gamma-delta T-lymphocytes|Reduced proportion of immature gamma-delta T cells 2020-05-19 15:39:41+00:00 owl:Class HP:0500272 biolink:NamedThing Abnormal proportion of immature gamma-delta T cells Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal proportion of immature gamma-delta T-cells|Abnormal proportion of immature gamma-delta T-lymphocytes|Abnormal proportion of immature gamma-delta T lymphocytes 2020-05-19 15:39:19+00:00 owl:Class GO:1905563 biolink:NamedThing negative regulation of vascular endothelial cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of vascular endothelial cell proliferation. tmpxe7fu0cj_hp_relaxed.owl downregulation of vascular endothelial cell proliferation|down regulation of vascular endothelial cell proliferation|down-regulation of vascular endothelial cell proliferation|inhibition of vascular endothelial cell proliferation nc 2016-10-17T09:24:26Z biological_process owl:Class GO:1905562 biolink:NamedThing regulation of vascular endothelial cell proliferation Any process that modulates the frequency, rate or extent of vascular endothelial cell proliferation. tmpxe7fu0cj_hp_relaxed.owl nc 2016-10-17T09:24:17Z biological_process owl:Class HP:0012631 biolink:NamedThing Pigment deposition in the trabecular meshwork Accumulation of abnormal amounts of pigment within the trabecular meshwork. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3805899 Gonioscopy can be used to reveal pigment deposition on the trabecular meshwork. peter 2014-01-17T11:15:03Z human_phenotype owl:Class HP:0012630 biolink:NamedThing Abnormal trabecular meshwork morphology An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the trabecular meshwork UMLS:C4022814 peter 2014-01-17T11:12:27Z human_phenotype owl:Class GO:0050865 biolink:NamedThing regulation of cell activation Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0007371 biolink:NamedThing Corpus callosum atrophy The presence of atrophy (wasting) of the corpus callosum. tmpxe7fu0cj_hp_relaxed.owl Atrophy of the corpus callosum|Atrophic corpus callosum|Atrophy/Degeneration of the corpus callosum UMLS:C0431370|SNOMEDCT_US:253142006 peter 2008-04-01T10:36:00Z HP:0005712 owl:Class UBERON:0018616 biolink:NamedThing primary upper tooth tmpxe7fu0cj_hp_relaxed.owl deciduous upper tooth uberon owl:Class UBERON:0003267 biolink:NamedThing tooth of upper jaw A calcareous tooth that is part of the upper jaw region. In mammals, the upper jaw teeth are attached to the maxilla. tmpxe7fu0cj_hp_relaxed.owl upper jaw tooth|maxillary tooth NCIT:C49792|EMAPA:17938|EHDAA:8045|UMLS:C1710581|MA:0001909 Note that we follow EHDAA2 and consider teeth part of the jaw skeleton uberon owl:Class HP:0008619 biolink:NamedThing Bilateral sensorineural hearing impairment A bilateral form of sensorineural hearing impairment. tmpxe7fu0cj_hp_relaxed.owl Bilateral sensorineural deafness|Bilateral nerve deafness|Bilateral sensorineural hearing loss|Hearing loss, sensorineural, bilateral SNOMEDCT_US:194424005|UMLS:C0452138 HP:0008530|HP:0008579|HP:0008585|HP:0008539 human_phenotype owl:Class HP:0008838 biolink:NamedThing Stippled calcification proximal humeral epiphyses tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of innermost long bone of upper arm UMLS:C1857243 human_phenotype owl:Class HP:0003901 biolink:NamedThing Stippled calcification of the humeral epiphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025519 human_phenotype owl:Class UBERON:0003694 biolink:NamedThing atlanto-axial joint The Atlanto-axial joint is of a complicated nature, comprising no fewer than four distinct joints. There is a pivot articulation between the odontoid process of the axis and the ring formed by the anterior arch and the transverse ligament of the atlas. tmpxe7fu0cj_hp_relaxed.owl lateral atlanto-axial joint|atlantoaxial|articulatio atlantoepistrophica|atlantoaxial joint|articulatio atlantoaxialis|median atlanto-axial joint|atlanto axial joint UMLS:C0004168|OpenCyc:Mx4rwUUIHpwpEbGdrcN5Y29ycA|GAID:250|NCIT:C32157|MESH:D001268|FMA:25524 http://upload.wikimedia.org/wikipedia/commons/d/d4/Gray304.png uberon owl:Class HP:0040069 biolink:NamedThing Abnormal lower limb bone morphology tmpxe7fu0cj_hp_relaxed.owl Abnormality of lower limb bone|Abnormal shape of bones of the lower limbs|Abnormal morphology of bones of the lower limbs UMLS:C4022455|UMLS:C4022457 HPO:skoehler HP:0040066 owl:Class GO:1904706 biolink:NamedThing negative regulation of vascular associated smooth muscle cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell proliferation. tmpxe7fu0cj_hp_relaxed.owl downregulation of vascular smooth muscle cell proliferation|inhibition of vascular smooth muscle cell proliferation|downregulation of VSMC proliferation|down regulation of VSMC proliferation|down regulation of vascular smooth muscle cell proliferation|down-regulation of VSMC proliferation|down-regulation of vascular smooth muscle cell proliferation|negative regulation of vascular smooth muscle cell proliferation|inhibition of VSMC proliferation|negative regulation of VSMC proliferation sl 2015-10-01T16:05:26Z biological_process owl:Class GO:0048662 biolink:NamedThing negative regulation of smooth muscle cell proliferation Any process that stops, prevents or reduces the rate or extent of smooth muscle cell proliferation. tmpxe7fu0cj_hp_relaxed.owl down regulation of smooth muscle cell proliferation|down-regulation of smooth muscle cell proliferation|downregulation of smooth muscle cell proliferation|negative regulation of SMC proliferation|inhibition of smooth muscle cell proliferation biological_process owl:Class HP:0410272 biolink:NamedThing Vulvar hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva. tmpxe7fu0cj_hp_relaxed.owl 2018-10-30 02:17:19+00:00 owl:Class HP:0007994 biolink:NamedThing Peripheral visual field loss Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. tmpxe7fu0cj_hp_relaxed.owl Kalnienk vision|Tunnel vision|Loss of peripheral vision SNOMEDCT_US:420990001|UMLS:C0241688|UMLS:C2937228 human_phenotype owl:Class MAXO:0000729 biolink:NamedThing transrectal ultrasonography A procedure that uses sound waves to create a video image of the pelvic organs and tissues. A small, lubricated probe placed into the rectum releases sound waves, which create echoes as they enter a pelvic organ. The echoes that bounce back are sent to a computer that translates the pattern of echoes into a picture of the specific organ under examination. This procedure is most often used to evaluate the prostate gland. tmpxe7fu0cj_hp_relaxed.owl transrectal ultrasound|transrectal ultrasound examination|endorectal ultrasound|TRUS|diagnostic transrectal ultrasound|endorectal ultrsonography|ERUS|endorectal sonography|medical transrectal ultrasound|transrectal sonography 2020-07-16 14:46:48+00:00 NCIT:C18315 owl:Class HP:0410287 biolink:NamedThing Intrathoracic hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region. tmpxe7fu0cj_hp_relaxed.owl Chest hemangioma 2019-01-09 20:07:18+00:00 owl:Class GO:1905433 biolink:NamedThing negative regulation of retrograde trans-synaptic signaling by neuropeptide Any process that stops, prevents or reduces the frequency, rate or extent of retrograde trans-synaptic signaling by neuropeptide. tmpxe7fu0cj_hp_relaxed.owl inhibition of retrograde trans-synaptic signaling by neuropeptide|downregulation of retrograde trans-synaptic signaling by neuropeptide|negative regulation of neuropeptide-mediated retrograde trans-synaptic signaling|down regulation of retrograde trans-synaptic signaling by neuropeptide|down-regulation of retrograde trans-synaptic signaling by neuropeptide|inhibition of neuropeptide-mediated retrograde trans-synaptic signaling bf 2016-09-14T10:56:55Z biological_process owl:Class GO:0010648 biolink:NamedThing negative regulation of cell communication Any process that decreases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0050932 biolink:NamedThing regulation of pigment cell differentiation Any process that modulates the frequency, rate or extent of pigmented cell differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0007206 biolink:NamedThing Hemimegalencephaly Enlargement of all or parts of one cerebral hemisphere. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:253170008|UMLS:C0431391|MSH:D065705 The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia. human_phenotype owl:Class HP:0001355 biolink:NamedThing Megalencephaly Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia). tmpxe7fu0cj_hp_relaxed.owl Enlarged brain|Macrencephaly UMLS:C0221355|SNOMEDCT_US:19410003|MSH:D058627 human_phenotype owl:Class HP:0006781 biolink:NamedThing Hurthle cell thyroid adenoma A kind of thyroid adenoma characterized by the presence of oxyphil cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1336750 Oxyphil cells of thyroid, defined by the Cell Ontology as oncocytes located in the thyroid, are also known as Hurthle cells. human_phenotype owl:Class HP:0000854 biolink:NamedThing Thyroid adenoma The presence of a adenoma of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl MSH:D013964|SNOMEDCT_US:255034006|UMLS:C0151468|NCIT:C2855|SNOMEDCT_US:255033000 human_phenotype owl:Class CHEBI:38796 biolink:NamedThing pteroates tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:22494 biolink:NamedThing aminobenzoate tmpxe7fu0cj_hp_relaxed.owl aminobenzoates chebi_ontology owl:Class HP:0010237 biolink:NamedThing Epiphyseal stippling of finger phalanges The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers. tmpxe7fu0cj_hp_relaxed.owl Stippling of the epiphyses of the fingers|Speckled calcifications in end part of finger bones|Stippling of the epiphyses of the phalanges of the hand UMLS:C4021304 doelkens 2009-07-06T03:31:52Z HP:0009368 human_phenotype owl:Class CHEBI:33559 biolink:NamedThing s-block element atom tmpxe7fu0cj_hp_relaxed.owl s-block element|s-block elements chebi_ontology owl:Class HP:0000236 biolink:NamedThing Abnormality of the anterior fontanelle An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the forehead soft spot UMLS:C4025875 human_phenotype owl:Class HP:0011328 biolink:NamedThing Abnormality of fontanelles An abnormality of the fontanelle. tmpxe7fu0cj_hp_relaxed.owl Anomaly of the fontanelles UMLS:C4020755 The fontanelles are the regions in an infant's calvaria that are covered by a thick membrane that normally ossify in the first two years of life. peter 2012-02-25T02:34:36Z human_phenotype owl:Class HP:0011464 biolink:NamedThing Aganglionosis of the small intestine A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023346 peter 2012-03-25T07:36:49Z human_phenotype owl:Class HP:0004362 biolink:NamedThing Abnormality of enteric ganglion morphology An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the enteric ganglia UMLS:C4025338 peter 2008-03-17T03:40:00Z HP:0003283|HP:0002596 human_phenotype owl:Class HP:0010036 biolink:NamedThing Aplasia/Hypoplasia of the 2nd metacarpal Aplasia or Hypoplasia affecting the 2nd metacarpal. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped 2nd long bone of hand|Absent/small 2nd long bone of hand UMLS:C4024091 doelkens 2009-05-27T04:34:44Z human_phenotype owl:Class HP:0010010 biolink:NamedThing Abnormality of the 2nd metacarpal Any abnormality of the second metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the 2nd long bone of hand UMLS:C4024113 doelkens 2009-05-27T03:35:21Z human_phenotype owl:Class HP:0500206 biolink:NamedThing Abnormal CSF lysine concentration Any deviation from the normal concentration of lysine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal lysine levels in cerebrospinal fluid 2019-02-25 18:31:42+00:00 owl:Class HP:0500205 biolink:NamedThing Abnormal CSF aspartate family amino acid concentration Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal aspartate-family amino acid levels in cerebrospinal fluid 2019-02-25 18:30:37+00:00 owl:Class UBERON:0006298 biolink:NamedThing submandibular gland primordium A primordium that has the potential to develop into a submandibular gland. tmpxe7fu0cj_hp_relaxed.owl submaxillary gland primordium EHDAA2:0001939|EHDAA:9255|EMAPA:17755 uberon owl:Class HP:0004043 biolink:NamedThing Lytic defects of ulnar metaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025421 human_phenotype owl:Class HP:0045039 biolink:NamedThing Osteolysis involving bones of the upper limbs tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073167 HPO:skoehler owl:Class UBERON:0002074 biolink:NamedThing hair shaft The main part of the hair which is composed of trichocytes and is divided into the cortex and medulla. tmpxe7fu0cj_hp_relaxed.owl shaft of hair|scapus pili FMA:70728|MA:0000159|UMLS:C0221961|BTO:0004672|EMAPA:36498|NCIT:C33543 TODO - check definition of trichocyte in CL|TODO - add distinct subclasses for coat hair vs vibrissa hair uberon owl:Class UBERON:0002235 biolink:NamedThing tubercle of rib The tubercle of a rib is an eminence on the posterior surface, at the junction of the neck and body of the rib, and nearer the lower than the upper border. It consists of an articular and a non-articular portion. The articular portion, the lower and more medial of the two, presents a small, oval surface for articulation with the end of the transverse process of the lower of the two vertebrae to which the head is connected. The non-articular portion is a rough elevation, and affords attachment to the ligament of the tubercle. The tubercle is much more prominent in the upper than in the lower ribs[WP]. tmpxe7fu0cj_hp_relaxed.owl tuberculum costae|rib tubercle FMA:7583|NCIT:C52729|MA:0001417|EMAPA:37736|UMLS:C0222809 uberon owl:Class CHEBI:27622 biolink:NamedThing vanillylmandelate A hydroxy monocarboxylic acid anion that is the conjugate base of vanillylmandelic acid. tmpxe7fu0cj_hp_relaxed.owl vanilmandelate|3-Methoxy-4-hydroxymandelate|2-hydroxy-2-(4-hydroxy-3-methoxyphenyl)acetate -1 C9H9O5 InChI=1S/C9H10O5/c1-14-7-4-5(2-3-6(7)10)8(11)9(12)13/h2-4,8,10-11H,1H3,(H,12,13)/p-1 CGQCWMIAEPEHNQ-UHFFFAOYSA-M 197.16480 197.04555 COc1cc(ccc1O)C(O)C([O-])=O KEGG:C05584 CHEBI:20105|CHEBI:1573 chebi_ontology owl:Class HP:0009225 biolink:NamedThing Aplasia of the proximal phalanx of the 5th finger Absence of the proximal phalanx of the little (5th) finger. tmpxe7fu0cj_hp_relaxed.owl Absent innermost bone of pinkie finger|Absent innermost bone of pinky finger|Absent innermost bone of little finger UMLS:C4024517 doelkens 2009-01-05T06:00:33Z human_phenotype owl:Class HP:0009192 biolink:NamedThing Aplasia/Hypoplasia of the proximal phalanx of the 5th finger Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger. tmpxe7fu0cj_hp_relaxed.owl Absent/small innermost little finger bone|Absent/small innermost pinkie finger bone|Absent/underdeveloped innermost pinky finger bone|Absent/small innermost pinky finger bone UMLS:C4024544 doelkens 2009-01-05T05:57:28Z human_phenotype owl:Class HP:0033815 biolink:NamedThing Bronchocentric Centered in bronchi or bronchioles. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:11:30+00:00 peter owl:Class HP:0032381 biolink:NamedThing Hydroa vacciniforme In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation. tmpxe7fu0cj_hp_relaxed.owl Acute vesiculation and crusting and scarring following sun exposure 2019-02-24 14:55:08+00:00 peter owl:Class GO:0019216 biolink:NamedThing regulation of lipid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. tmpxe7fu0cj_hp_relaxed.owl regulation of lipid metabolism biological_process owl:Class GO:0033604 biolink:NamedThing negative regulation of catecholamine secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a catecholamine. tmpxe7fu0cj_hp_relaxed.owl downregulation of catecholamine secretion|inhibition of catecholamine secretion|down-regulation of catecholamine secretion|down regulation of catecholamine secretion biological_process owl:Class UBERON:0015329 biolink:NamedThing respiratory system basement membrane A basement membrane of epithelium that is part of a respiratory system. tmpxe7fu0cj_hp_relaxed.owl MA:0001815|EMAPA:37570 uberon owl:Class GO:0048243 biolink:NamedThing norepinephrine secretion The regulated release of norepinephrine by a cell. Norepinephrine is a catecholamine and it acts as a hormone and as a neurotransmitter of most of the sympathetic nervous system. tmpxe7fu0cj_hp_relaxed.owl noradrenaline secretion biological_process owl:Class GO:0002823 biolink:NamedThing negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0002820 biolink:NamedThing negative regulation of adaptive immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response. tmpxe7fu0cj_hp_relaxed.owl downregulation of adaptive immune response|down regulation of adaptive immune response|down-regulation of adaptive immune response|inhibition of adaptive immune response biological_process owl:Class UBERON:0004247 biolink:NamedThing bone of dorsum A bone that is part of the dorsal region of an animal. tmpxe7fu0cj_hp_relaxed.owl bone of back|dorsal region bone|back bone MA:0000494|EMAPA:37248 this class may be obsoleted. See: https://github.com/obophenotype/mouse-anatomy-ontology/issues/93 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Skeleton-partonomy-Design-Pattern HP:0009533 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of the innermost long bone of index finger UMLS:C4024303 doelkens 2009-01-16T01:12:34Z human_phenotype owl:Class HP:0007030 biolink:NamedThing Nonprogressive encephalopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024950 human_phenotype owl:Class HP:0001298 biolink:NamedThing Encephalopathy Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. tmpxe7fu0cj_hp_relaxed.owl MSH:D001927|UMLS:C0085584|SNOMEDCT_US:81308009 This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. human_phenotype owl:Class HP:0000907 biolink:NamedThing Anterior rib cupping Wide, concave anterior rib end. tmpxe7fu0cj_hp_relaxed.owl Anteriorly splayed ribs|Anterior cupping of ribs UMLS:C1846154 HP:0006601 human_phenotype owl:Class HP:0000887 biolink:NamedThing Cupped ribs Wide, concave rib end. tmpxe7fu0cj_hp_relaxed.owl Cupped ribs|Rib cupping|Rib flaring UMLS:C0426826|UMLS:C1865039|SNOMEDCT_US:249704008 HP:0006635 human_phenotype owl:Class HP:0010431 biolink:NamedThing Short phalanx of the 2nd toe Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia. tmpxe7fu0cj_hp_relaxed.owl Short phalanx of the second toe|Short 2nd toe bone|Hypoplastic/small phalanges of the 2nd toe UMLS:C4021269 doelkens 2009-07-16T04:27:29Z HP:0100365 human_phenotype owl:Class HP:0033302 biolink:NamedThing Elevated circulating 4-hydroxyphenylacetic acid concentration An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 22:03:02+00:00 4-hydroxyphenlyllactic acid is a human metabolite that derives from an acetic acid. peter owl:Class HP:0010996 biolink:NamedThing Abnormal circulating monocarboxylic acid cocentration Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023605 peter 2011-02-10T02:20:42Z owl:Class CL:0000556 biolink:NamedThing megakaryocyte A giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm. tmpxe7fu0cj_hp_relaxed.owl megalokaryocyte|megalocaryocyte|megacaryocyte FMA:83555|BTO:0000843|CALOHA:TS-0611 Megakaryocytes are reportedly CD181-positive and CD182-positive. cell owl:Class CL:1001610 biolink:NamedThing bone marrow hematopoietic cell Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes. tmpxe7fu0cj_hp_relaxed.owl bone marrow poietic cells|bone marrow hematopoietic cells CALOHA:TS-2109 owl:Class HP:0033661 biolink:NamedThing Air crescent An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer. tmpxe7fu0cj_hp_relaxed.owl 2021-02-27 14:34:38+00:00 See Figure 3 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0011410 biolink:NamedThing Caesarian section Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy). tmpxe7fu0cj_hp_relaxed.owl Caesarian section SNOMEDCT_US:200144004|UMLS:C1384674 peter 2012-03-15T09:58:01Z human_phenotype owl:Class HP:0001787 biolink:NamedThing Abnormal delivery An abnormality of the birth process. tmpxe7fu0cj_hp_relaxed.owl Delivery complication|Abnormal delivery SNOMEDCT_US:274127000|UMLS:C0549629 human_phenotype owl:Class HP:0005747 biolink:NamedThing Easily subluxated first metacarpophalangeal joints tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025143 human_phenotype owl:Class HP:0004294 biolink:NamedThing Subluxation of metacarpal phalangeal joints A partial dislocation affecting some or all of the metacarpophalangeal joints. tmpxe7fu0cj_hp_relaxed.owl Subluxation of metacarpophalangeal joints|Partial knuckle dislocation UMLS:C4025363 human_phenotype owl:Class HP:0009734 biolink:NamedThing Optic nerve glioma A glioma originating in the optic nerve or optic chiasm. tmpxe7fu0cj_hp_relaxed.owl Optic glioma MSH:D020339|UMLS:C0346326|SNOMEDCT_US:254976006|SNOMEDCT_US:404662003 peter 2009-01-31T11:17:13Z human_phenotype owl:Class HP:0007460 biolink:NamedThing Autoamputation of digits tmpxe7fu0cj_hp_relaxed.owl UMLS:C1852289 human_phenotype owl:Class UBERON:0011122 biolink:NamedThing cricoarytenoid joint The cricoarytenoid articulation (or joint) is a joint connecting the cricoid cartilage and the arytenoid cartilage. tmpxe7fu0cj_hp_relaxed.owl cricoarytenoid articulation|crico-arytenoid joint FMA:55102|NCIT:C32397|UMLS:C0225555 http://upload.wikimedia.org/wikipedia/commons/d/dc/Gray960.png uberon owl:Class UBERON:0011120 biolink:NamedThing laryngeal joint A skeletal joint that connects a laryngeal cartilage. tmpxe7fu0cj_hp_relaxed.owl laryngeal articulation|joint of larynx FMA:55100 uberon owl:Class HP:0007915 biolink:NamedThing Polymorphous posterior corneal dystrophy This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:29504002|UMLS:C0339284|MSH:C562745 human_phenotype owl:Class HP:0030755 biolink:NamedThing Craniofacial teratoma A teratoma located in the craniofacial region. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3403|UMLS:C4280784 owl:Class UBERON:0004864 biolink:NamedThing vasculature of retina A vasculature that is part of a retina [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl set of retinal blood vessels|retina vasculature|set of blood vessels of retina|vasa sanguinea retinae|retinal blood vessels set|retina vasculature of camera-type eye|retinal blood vessels|retinal vasculature MESH:D012171|XAO:0004153|FMA:76552 uberon owl:Class UBERON:0036302 biolink:NamedThing vasculature of central nervous system plus retina tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0006333 biolink:NamedThing snout tmpxe7fu0cj_hp_relaxed.owl muzzle EMAPA:32806|TAO:0001712|ZFA:0005496|MA:0001910 uberon owl:Class Surface structure that is the region of the head in front of and between the orbits, and above the lower jaw. Nares are located on the snout[ZFA]. GO:0070346 biolink:NamedThing positive regulation of fat cell proliferation Any process that activates or increases the rate or extent of fat cell proliferation. tmpxe7fu0cj_hp_relaxed.owl stimulation of fat cell proliferation|up regulation of fat cell proliferation|positive regulation of adipose cell proliferation|up-regulation of fat cell proliferation|activation of fat cell proliferation|positive regulation of adipocyte proliferation|upregulation of fat cell proliferation biological_process owl:Class GO:0070344 biolink:NamedThing regulation of fat cell proliferation Any process that modulates the frequency, rate or extent of fat cell proliferation. tmpxe7fu0cj_hp_relaxed.owl regulation of adipose cell proliferation|regulation of adipocyte proliferation biological_process owl:Class NBO:0000085 biolink:NamedThing depression behavior "Emotional behavior related to a state of low mood and aversion to activity." [wikipedia:Depression] tmpxe7fu0cj_hp_relaxed.owl depression related behaviour 2011-04-14T01:20:02Z George Gkoutos behavior_ontology owl:Class HP:0009498 biolink:NamedThing Triangular epiphyses of the 2nd finger A triangular appearance of the epiphyses of the 2nd finger of the hand. tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the index finger UMLS:C4024328 doelkens 2009-01-16T01:07:16Z human_phenotype owl:Class UBERON:0018406 biolink:NamedThing mental nerve Mental nerve is a general somatic afferent (sensory) nerve which provides sensation to the anterior aspects of the chin and lower lip as well as the buccal gingivae of the mandibular anterior teeth and the premolars. It is a branch of the posterior trunk of the inferior alveolar nerve, which is itself a branch of the mandibular division of the trigeminal nerve (CN V). The nerve emerges at the mental foramen in the mandibula, and divides beneath the Depressor anguli oris muscle into three branches: one descends to the skin of the chin. two ascend to the skin and mucous membrane of the lower lip. These branches communicate freely with the facial nerve. tmpxe7fu0cj_hp_relaxed.owl FMA:53250 uberon owl:Class UBERON:0000963 biolink:NamedThing head sensillum tmpxe7fu0cj_hp_relaxed.owl FBbt:00004114|MIAA:0000204|MAT:0000204 this term should be ceded to the arthropod anatomy ontology uberon owl:Class UBERON:0002536 biolink:NamedThing arthropod sensillum Sense organ embedded in the integument and consisting of one or a cluster of sensory neurons and associated sensory structures, support cells and glial cells forming a single organised unit with a largely bona-fide boundary.[FBbt]. tmpxe7fu0cj_hp_relaxed.owl sensillum HAO:0000933|TGMA:0000540|Wikipedia:Sensillum|FBbt:00007152|BTO:0001237|MIAA:0000163|EFO:0000939|MAT:0000163 this term should be ceded to the arthropod anatomy ontology uberon owl:Class UBERON:0003414 biolink:NamedThing mesenchyme of mandible Mesenchyme that is part of a developing mandible [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of mandibulla|bone of ventral mandibular arch mesenchyme|mesenchyme of bone organ of lower jaw|mandible mesenchyme|lower jaw bone organ mesenchyme|mandibulla mesenchyme|mesenchyme of bone of ventral mandibular arch|bone organ of lower jaw mesenchyme|lower jaw bone mesenchyme|mesenchyme of bone of lower jaw|mesenchyme of lower jaw bone organ|mesenchyme of lower jaw bone|ventral mandibular arch bone organ mesenchyme|mesenchyme of ventral mandibular arch bone|bone organ of ventral mandibular arch mesenchyme|ventral mandibular arch bone mesenchyme|mesenchyme of bone organ of ventral mandibular arch|bone of lower jaw mesenchyme|mesenchyme of ventral mandibular arch bone organ EMAPA:17912 uberon owl:Class GO:2000404 biolink:NamedThing regulation of T cell migration Any process that modulates the frequency, rate or extent of T cell migration. tmpxe7fu0cj_hp_relaxed.owl regulation of T-cell migration|regulation of T-lymphocyte migration|regulation of T lymphocyte migration mah 2011-02-23T10:48:24Z biological_process owl:Class PATO:0001374 biolink:NamedThing ploidy A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0032181 biolink:NamedThing Anomalous hepatic venous drainage into the left atrium An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium. tmpxe7fu0cj_hp_relaxed.owl 2019-01-12 14:05:06+00:00 peter owl:Class HP:0006707 biolink:NamedThing Abnormality of the hepatic vasculature An abnormality of the hepatic vasculature. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the liver vasculature|Abnormality of liver blood vessels UMLS:C4024994 peter 2008-03-29T03:41:00Z owl:Class UBERON:0010948 biolink:NamedThing cleidooccipital muscle A muscle organ that attaches_to a clavicle and attaches_to a occipital bone. tmpxe7fu0cj_hp_relaxed.owl cleido-occipitalis|cleido-occipitalis muscle|cleidooccipital MA:0002276|EMAPA:37688|NCIT:C52895 Some studies have indicated a supernumerary cleido-occipital muscle more or less separate from the sterno-cleido-mastoid muscle; The frequency of cleido-occipital muscle occurrence has been reported up to 33% uberon owl:Class UBERON:0000933 biolink:NamedThing pharyngeal muscle A muscle that acts on the pharynx[WP, vetted]. tmpxe7fu0cj_hp_relaxed.owl tunica muscularis pharyngis|muscle organ of pharynx|musculus pharyngis|pharynx muscle organ|branchial muscles|pharynx muscle|branchial muscle|muscle of pharynx|musculi pharyngis TAO:0000172|BTO:0001048|FMA:46619|ZFA:0000172|UMLS:C0031346|MESH:D010609|GAID:154|MA:0001797|NCIT:C13075|EMAPA:18963|EFO:0003504 Innervation notes: They are innervated by the pharyngeal branch of the Vagus nerve (CN X) with the exception of the stylopharyngeus muscle which is innervated by the glossopharyngeal nerve (CN IX).[WP] http://upload.wikimedia.org/wikipedia/commons/3/35/Gray1030.png uberon owl:Class A pharyngeal muscle is any muscle that forms part of the pharynx[GO]. CHEBI:36498 biolink:NamedThing galactosylceramide tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:5254 biolink:NamedThing galactolipid tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0006888 biolink:NamedThing Meningoencephalocele tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:52330001|UMLS:C0266456 human_phenotype owl:Class UBERON:0035764 biolink:NamedThing pulmonary lymph node tmpxe7fu0cj_hp_relaxed.owl intrapulmonary lymph node|pulmonary node FMA:5968 uberon owl:Class UBERON:0004778 biolink:NamedThing larynx submucosa A submucosa that is part of a larynx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl laryngeal submucosa|submucosa of larynx FMA:321584|MA:0002728|EMAPA:35474|SCTID:361941005 uberon owl:Class GO:0051239 biolink:NamedThing regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0002644 biolink:NamedThing Abnormality of pelvic girdle bone morphology An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of pelvic girdle bone|Abnormality of the pelvic girdle UMLS:C4020847 human_phenotype owl:Class GO:0043467 biolink:NamedThing regulation of generation of precursor metabolites and energy Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and the processes involved in the liberation of energy from these substances. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0006941 biolink:NamedThing striated muscle contraction A process in which force is generated within striated muscle tissue, resulting in the shortening of the muscle. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope. tmpxe7fu0cj_hp_relaxed.owl sarcomeric muscle contraction biological_process owl:Class GO:0006936 biolink:NamedThing muscle contraction A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Muscle_contraction biological_process owl:Class PATO:0001713 biolink:NamedThing decreased perimeter A perimeter which is relatively low. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class UBERON:0001794 biolink:NamedThing inner limiting layer of retina The row of fused Muller cell processes and astrocytes that separates the retinal nerve fiber layer from the vitreous[MP]. tmpxe7fu0cj_hp_relaxed.owl inner limiting membrane|inner limiting membranes|ILM|retina inner limiting membrane|inner limiting membrane of retina|internal limiting lamina of retina|retina internal limiting lamina|stratum limitans internum retinae|internal limiting membrane of retina NCIT:C32807|TAO:0001029|FMA:58689|EMAPA:36519|MA:0001313|UMLS:C1512783|XAO:0003222|ZFA:0001029 TODO - check frog/fish uberon owl:Class Membrane on the apical surface of the retina. The retinal vasculature becomes adhered to the apical surface of the ILM by 30dpf[ZFIN:ZDB-PUB-071023-7, ZFIN:ZDB-PUB-120529-3]. UBERON:0007619 biolink:NamedThing limiting membrane of retina tmpxe7fu0cj_hp_relaxed.owl retina lamina MA:0001318 uberon owl:Class MA does treat internal/external limiting membranes as layers - these are classified as laminae. We do not follow this convention. However, we do following MA is grouping these terms together UBERON:0010911 biolink:NamedThing ossicle Skeletal element that is often isolated, small, and variable in composition. tmpxe7fu0cj_hp_relaxed.owl VSAO:0000132 Ossicles are composed of a combination skeletal tissues, including bone, calcified cartilage, hyaline cartilage, etc, and exhibit variable development across species. Ossicles are not necessarily jointed, and examples include the menisci of synovial joints, 'Panda's thumb' (radial sesamoid), cardiac skeletal elements, sclerotic bones, middle ear ossicles, and sesamoids. uberon owl:Class HP:0030637 biolink:NamedThing Congenital stationary cone dysfunction Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia. tmpxe7fu0cj_hp_relaxed.owl Cone dysfunction|Cone dysfunction syndrome UMLS:C0543968 owl:Class HP:0012373 biolink:NamedThing Abnormal eye physiology A functional anomaly of the eye. tmpxe7fu0cj_hp_relaxed.owl Abnormal eye physiology UMLS:C4022924 peter 2013-10-13T03:45:37Z human_phenotype owl:Class UBERON:0005275 biolink:NamedThing dorsal skin of digit tmpxe7fu0cj_hp_relaxed.owl skin of dorsal part of digit|dorsal digit skin uberon owl:Class UBERON:0015249 biolink:NamedThing digit skin A zone of skin that is part of a digit [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:32615|MA:0003011 uberon owl:Class HP:0003798 biolink:NamedThing Nemaline bodies Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. tmpxe7fu0cj_hp_relaxed.owl Nemaline rods UMLS:C3808039 This finding can be demonstrated by muscle biopsy, which shows nemaline bodies (rods) on Gomori trichrome staining. Rod bodies characteristically stain red with MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative with ATPase, NADH and SDH as they lack myosin and mitochondria. Rods are characteristic of nemaline myopathy but also seen in central core disease and various other diseases which include neurogenic disorders (amyotrophic lateral sclerosis, spinal muscular atrophy, undefined), inflammatory myopathies (dermatomyositis, polymyositis, periarteritis nodosa), metabolic myopathy (mitochondrial myopathy), muscular dystrophy (LGMD) and some undefined myopathies (Liouet al; Diagnostic role of nemaline rod in neuromuscular disease. Acta Neurol Sinica 1992;1: 218-23). human_phenotype owl:Class HP:0100303 biolink:NamedThing Muscle fiber cytoplasmatic inclusion bodies The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. tmpxe7fu0cj_hp_relaxed.owl Muscle fibre cytoplasmatic inclusion bodies|Muscle fiber cytoplasmic bodies|Muscle fibre cytoplasmic bodies UMLS:C4022157 doelkens 2010-08-10T02:39:22Z HP:0003790 human_phenotype owl:Class HP:0032579 biolink:NamedThing Vascular hamartoma A benign focal growth composed of vascular tissue. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0071673 biolink:NamedThing positive regulation of smooth muscle cell chemotaxis Any process that activates or increases the frequency, rate, or extent of smooth muscle cell chemotaxis. tmpxe7fu0cj_hp_relaxed.owl activation of smooth muscle cell chemotaxis|upregulation of smooth muscle cell chemotaxis|stimulation of smooth muscle cell chemotaxis|up regulation of smooth muscle cell chemotaxis|up-regulation of smooth muscle cell chemotaxis mah 2010-02-16T01:48:14Z biological_process owl:Class GO:0071671 biolink:NamedThing regulation of smooth muscle cell chemotaxis Any process that modulates the frequency, rate, or extent of smooth muscle cell chemotaxis. tmpxe7fu0cj_hp_relaxed.owl mah 2010-02-16T01:42:03Z biological_process owl:Class GO:0061140 biolink:NamedThing lung secretory cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a lung secretory cell. A lung secretory cell is a specialized epithelial cell of the lung that contains large secretory granules in its apical part. tmpxe7fu0cj_hp_relaxed.owl dph 2010-05-25T09:28:53Z biological_process owl:Class UBERON:0011344 biolink:NamedThing lateral surface of mandible tmpxe7fu0cj_hp_relaxed.owl lateral surface of mandibular ramus|lateral surface of ramus of mandible|external surface of ramus of mandible FMA:59463 uberon owl:Class UBERON:0011342 biolink:NamedThing surface of mandible An anatomical surface that is part of a mandible. tmpxe7fu0cj_hp_relaxed.owl mandibular surface FMA:57558 uberon owl:Class HP:0000851 biolink:NamedThing Congenital hypothyroidism A type of hypothyroidism with congenital onset. tmpxe7fu0cj_hp_relaxed.owl Hypothyroidism, congenital|Underactive thyroid gland from birth MSH:D003409|UMLS:C0010308|SNOMEDCT_US:190268003|SNOMEDCT_US:217710005 human_phenotype owl:Class HP:0007550 biolink:NamedThing Hypohidrosis or hyperhidrosis tmpxe7fu0cj_hp_relaxed.owl Lack of sweating or excessive sweating UMLS:C4021831 human_phenotype owl:Class HP:0025276 biolink:NamedThing Abnormality of skin adnexa physiology Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 14:51:16+00:00 HPO:probinson owl:Class HP:0001107 biolink:NamedThing Ocular albinism An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. tmpxe7fu0cj_hp_relaxed.owl Albinism, Ocular|Absent pigmentation in the eye SNOMEDCT_US:26399002|UMLS:C0078917|MSH:D016117 Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia. HP:0007837|HP:0007745 human_phenotype owl:Class HP:0007730 biolink:NamedThing Iris hypopigmentation An abnormal reduction in the amount of pigmentation of the iris. tmpxe7fu0cj_hp_relaxed.owl Light eye colour|Reduced iris pigmentation|Light eye color SNOMEDCT_US:70397008|UMLS:C0154920|SNOMEDCT_US:247032003 human_phenotype owl:Class PATO:0001779 biolink:NamedThing decreased strength A strength which is relatively low. tmpxe7fu0cj_hp_relaxed.owl weak quality owl:Class PATO:0001230 biolink:NamedThing strength A quality inhering in a bearer by virtue of the bearer's power or force. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0005584 biolink:NamedThing Renal cell carcinoma A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. tmpxe7fu0cj_hp_relaxed.owl Cancer starting in small tubes in kidneys|Renal carcinoma|Hypernephroma MSH:D002292|SNOMEDCT_US:702391001|UMLS:C0007134|NCIT:C2916|SNOMEDCT_US:41607009 Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma. HP:0006720 human_phenotype owl:Class UBERON:0003849 biolink:NamedThing mesencephalic neural crest A neural crest that has_potential_to_developmentally_contribute_to a midbrain. tmpxe7fu0cj_hp_relaxed.owl mesencephalic neural crest|neural crest midbrain EHDAA:360|EFO:0003591|ZFA:0000935|VHOG:0000796|EHDAA2:0001101|TAO:0000935 uberon owl:Class We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] HP:0006844 biolink:NamedThing Absent patellar reflexes Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. tmpxe7fu0cj_hp_relaxed.owl Absent knee jerk reflex SNOMEDCT_US:274817009|UMLS:C0558844 human_phenotype owl:Class HP:0002522 biolink:NamedThing Areflexia of lower limbs Inability to elicit tendon reflexes in the lower limbs. tmpxe7fu0cj_hp_relaxed.owl Areflexia, lower limbs|Absent lower limb tendon reflexes|Areflexia of the lower limbs|Areflexia in lower limbs UMLS:C1856694 human_phenotype owl:Class HP:0008666 biolink:NamedThing Impaired histidine renal tubular absorption tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024642 human_phenotype owl:Class UBERON:0012354 biolink:NamedThing acropodium region The segment of the autopod that is distal to the metapodial region and consists of the digits. tmpxe7fu0cj_hp_relaxed.owl set of digits|acropodial limb segment|acropodial region|acropodial segment of autopod class refers to an entire limb segment, not just the bones uberon owl:Class GO:0032967 biolink:NamedThing positive regulation of collagen biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. tmpxe7fu0cj_hp_relaxed.owl positive regulation of collagen formation|positive regulation of collagen biosynthesis|positive regulation of collagen anabolism|positive regulation of collagen synthesis biological_process owl:Class UBERON:0004455 biolink:NamedThing neurula embryo An embryo at the neurula stage. tmpxe7fu0cj_hp_relaxed.owl neurula NCIT:C34229|BTO:0001766|BILA:0000061|UMLS:C1518306 UBERON:0007013 uberon owl:Class HP:0003034 biolink:NamedThing Diaphyseal sclerosis An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in shaft of long bone|Craniodiaphyseal osteosclerosis|Diaphyseal osteosclerosis UMLS:C0011989|MSH:D003966|SNOMEDCT_US:34643004|SNOMEDCT_US:318761000119105 HP:0005611 human_phenotype owl:Class HP:0006392 biolink:NamedThing Increased density of long bones An abnormal increase in the bone density of the long bones. tmpxe7fu0cj_hp_relaxed.owl Increased density of long bones UMLS:C1849307 human_phenotype owl:Class UBERON:1000024 biolink:NamedThing parenchyma of spleen A parenchyma that is part of a spleen. tmpxe7fu0cj_hp_relaxed.owl splenic parenchyma FMA:16029 uberon owl:Class UBERON:0000353 biolink:NamedThing parenchyma Functional part of an organ in the body. This is in contrast to the stroma, which refers to the structural tissue of organs, being exactly, connective tissues. tmpxe7fu0cj_hp_relaxed.owl EHDAA:9196|Wikipedia:Parenchyma|FMA:45732|NCIT:C74601|EHDAA:8086|EHDAA:4005|EHDAA:9182|EHDAA:6899|EHDAA:3999|EHDAA:9202|EHDAA:3905|UMLS:C0933845|EHDAA:9190|EHDAA:6903|EHDAA:3015|EHDAA:6994 uberon owl:Class parenchymal Early in development the mammalian embryo has three distinct layers: ectoderm (external layer), endoderm (internal layer) and in between those two layers the middle layer or mesoderm. The parenchyma of most organs is of ectodermal (brain, skin) or endodermal origin (lungs, gastrointestinal tract, liver, pancreas). The parenchyma of a few organs (spleen, kidneys, heart) is of mesodermal origin. The stroma of all organs is of mesodermal origin the FMA definition is more restrictive, and limits this to solid organs. This would seem to cause problems for the lung parenchyma, except FMA classifies Lung as solid rather than cavitated HP:0009155 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 5th finger A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the innermost bone of pinky finger|Cone-shaped end part of the innermost bone of pinkie finger|Cone-shaped end part of the innermost bone of little finger|Cone-shaped epiphysis of the proximal phalanx of the little finger|Angel-shaped epiphysis of the proximal phalanx of the 5th finger UMLS:C4020783|UMLS:C4020784 peter 2008-12-22T05:50:39Z human_phenotype owl:Class GO:0071624 biolink:NamedThing positive regulation of granulocyte chemotaxis Any process that increases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl mah 2010-02-09T04:15:36Z biological_process owl:Class HP:0040039 biolink:NamedThing Onycholysis of fingernails tmpxe7fu0cj_hp_relaxed.owl Onycholysis of fingernail|Detachment of fingernails UMLS:C3553044 HPO:skoehler owl:Class HP:0001806 biolink:NamedThing Onycholysis Detachment of the nail from the nail bed. tmpxe7fu0cj_hp_relaxed.owl Oncholysis|Detachment of nail SNOMEDCT_US:75789001|MSH:D054039|MEDDRA:10030337|UMLS:C0085661 owl:Class HP:0032658 biolink:NamedThing Status epilepticus with prominent motor symptoms Status epilepticus with prominent motor signs during the prolonged seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0012266 biolink:NamedThing T-wave alternans A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:428550008|UMLS:C1998313 peter 2013-04-07T10:23:08Z human_phenotype owl:Class HP:0005135 biolink:NamedThing Abnormal T-wave An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles. tmpxe7fu0cj_hp_relaxed.owl T-wave abnormalities|EKG: T-wave abnormalities UMLS:C4025245 human_phenotype owl:Class UBERON:0036214 biolink:NamedThing rectosigmoid junction An anatomical junction that is between the sigmoid colon and rectum. tmpxe7fu0cj_hp_relaxed.owl rectosigmoid region NCIT:C54188 uberon owl:Class UBERON:0003887 biolink:NamedThing intraembryonic coelom The part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom. tmpxe7fu0cj_hp_relaxed.owl somatic coelom VHOG:0000316|Wikipedia:Intraembryonic_coelom|NCIT:C34195|UMLS:C1512940|EHDAA:251|EMAPA:16088 consider merging with coelom. TODO - add spatial relationships to halves of LPM. Note the OG places XAO and ZFA coelem terms here. editor note: TODO check ZFA, which appears to be a structure present in adults uberon owl:Class (...) I regard it unlikely that coeloms of all bilaterian animals are comparable and evolved very early. Considering all these questions, few convincing characters concerning the evolution of body cavities remain to be named. (...) A segmental coelom appears to have evolved at least two times, in Annelida and in Myomerata (Acrania and Craniota).[well established][VHOG] HP:0005561 biolink:NamedThing Abnormality of bone marrow cell morphology An anomaly of the form or number of cells in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl Bone marrow disease|Anomaly of the bone marrow cells SNOMEDCT_US:127035006|MSH:D001855|UMLS:C0005956|UMLS:C4021634 peter 2008-03-27T10:46:00Z owl:Class UBERON:0001746 biolink:NamedThing capsule of thyroid gland tmpxe7fu0cj_hp_relaxed.owl thyroid gland capsule|capsula fibrosa glandulae thyroideae|fibrous capsule of thyroid gland|thyroid capsule FMA:55513|MA:0002675|NCIT:C33781|EMAPA:37767|UMLS:C0229575 uberon owl:Class GO:0001667 biolink:NamedThing ameboidal-type cell migration Cell migration that is accomplished by extension and retraction of a pseudopodium. tmpxe7fu0cj_hp_relaxed.owl amoeboidal cell migration|ameboid cell migration|amoeboid cell migration Note that this term refers to a mode of migration rather than to any particular cell type. biological_process owl:Class UBERON:0003582 biolink:NamedThing nasopharynx connective tissue A portion of connective tissue that is part of a nasopharynx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl connective tissue of nasopharynx|nasopharynx portion of connective tissue|portion of connective tissue of nasopharynx|rhinopharynx portion of connective tissue|connective tissue of nasal part of pharynx|rhinopharynx connective tissue|portion of connective tissue of rhinopharynx|connective tissue of rhinopharynx|rhinopharynx textus connectivus|nasal part of pharynx connective tissue|nasopharynx textus connectivus|textus connectivus of nasal part of pharynx|textus connectivus of nasopharynx|nasal part of pharynx textus connectivus|nasal part of pharynx portion of connective tissue|textus connectivus of rhinopharynx|portion of connective tissue of nasal part of pharynx EMAPA:37682|MA:0001864 uberon owl:Class UBERON:0004246 biolink:NamedThing outflow tract smooth muscle A portion of smooth muscle tissue that is part of a outflow tract [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl smooth muscle tissue of outflow tract|non-striated muscle of outflow tract|involuntary muscle of outflow tract|outflow tract smooth muscle tissue|outflow tract involuntary muscle|outflow tract non-striated muscle|smooth muscle of outflow tract MA:0000492|EMAPA:37708 uberon owl:Class GO:0050905 biolink:NamedThing neuromuscular process Any process pertaining to the functions of the nervous and muscular systems of an organism. tmpxe7fu0cj_hp_relaxed.owl neuromotor process|neuromuscular physiological process biological_process owl:Class UBERON:0004334 biolink:NamedThing proximal phalanx of pedal digit 3 A proximal phalanx that is part of a pedal digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pedal phalanx III-1|proximal phalanx of 3rd toe|proximal phalanx of third toe|proximal phalanx of pedal digit III|proximal phalanx of the 3rd toe|third proximal phalanx of foot|predal digit 3 proximal phalanx|proximal phalanx of foot digit 3|3rd toe proximal phalanx|proximal phalanx of third digit of foot|foot digit 3 proximal phalanx FMA:32619 uberon owl:Class HP:0010637 biolink:NamedThing Conjunctival amyloidosis A form of amyloidosis that affects the conjunctiva. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:59017008|UMLS:C0268402 The deposition of amyloid, a noncollagenous protein, in the conjunctiva, which presents as a discrete, nontender, nonulcerative, waxy, yellow-white subconjunctival tissue. peter 2009-12-07T03:20:51Z owl:Class UBERON:0016409 biolink:NamedThing base of glans penis tmpxe7fu0cj_hp_relaxed.owl glans penile base FMA:19649 uberon owl:Class HP:0009223 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of the middle bone of the ring finger UMLS:C4024518 doelkens 2009-01-05T05:23:59Z human_phenotype owl:Class HP:0009402 biolink:NamedThing Stippling of the epiphyses of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of ring finger bone UMLS:C4024388 doelkens 2009-01-13T01:59:12Z human_phenotype owl:Class GO:0042445 biolink:NamedThing hormone metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0004486 biolink:NamedThing musculature of perineum Any collection of muscles that is part of a perineum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl perineal muscles|perineal muscles set|musculi perinei|set of perineal muscles EMAPA:36629|FMA:71295 currently defined by location rather than attachment uberon owl:Class HP:0005905 biolink:NamedThing Abnormal cervical curvature The presence of an abnormal curvature of the cervical vertebral column. tmpxe7fu0cj_hp_relaxed.owl Abnormal neck curve UMLS:C3151523 human_phenotype owl:Class UBERON:0004803 biolink:NamedThing penis epithelium An epithelium that is part of a penis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelium of penis|penis epithelial tissue|epithelial tissue of penis EHDAA2:0004039|MA:0001742|EMAPA:35674 uberon owl:Class HP:0032793 biolink:NamedThing Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0500007 biolink:NamedThing Iris flocculi Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris. tmpxe7fu0cj_hp_relaxed.owl Iris flocculi cause little, if any, visual impairment in most cases. However, they are occasionally associated with dissecting aortic aneurysm due to a shared mutation in smooth muscle that affects both the iris and the aorta. owl:Class UBERON:0005321 biolink:NamedThing mesonephric smooth muscle tissue tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0032627 biolink:NamedThing Intratubular leukocyte casts Casts that contain white blood cells and are located within the tubuli of the kidney. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032623 biolink:NamedThing Renal intratubular casts Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast. tmpxe7fu0cj_hp_relaxed.owl Tubular casts Casts can be subsequently eliminated via the urine and may be seen by microscopy of the urine sediment, which should be coded separately using an appropriate term from the Cylindruria subhierarchy (HP:0012615). Intratubular casts may have various compositions with different morphologic and staining characteristics. Both hyaline and granular casts may be observed in a number of renal diseases. Commonly observed casts are hyaline (eosinophilic, homogeneous proteinaceous) casts associated with increased glomerular permeability such as with chronic progressive nephropathy and granular (necrotic cellular debris) casts. peter owl:Class HP:0100005 biolink:NamedThing Testicular mesothelioma A Malignant mesothelioma of the testis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022391|NCIT:C3234 Testicular mesothelioma originates from cells of the tunica vaginalis (the thin layer of mesothelium surrounding the testicles). Testicular mesothelioma is the rarest form of mesothelioma. doelkens 2010-05-11T04:16:23Z human_phenotype owl:Class HP:0009948 biolink:NamedThing Duplication of the distal phalanx of the 2nd finger Partial or complete duplication of the distal phalanx of index finger. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the distal phalanx of the 2nd finger|Partial/complete duplication of the outermost bone of the index finger UMLS:C4021367 doelkens 2009-05-15T01:58:58Z HP:0004144 human_phenotype owl:Class HP:0005353 biolink:NamedThing Recurrent herpes Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. tmpxe7fu0cj_hp_relaxed.owl Susceptibility to herpesvirus UMLS:C4025207 human_phenotype owl:Class HP:0000924 biolink:NamedThing Abnormality of the skeletal system An abnormality of the skeletal system. tmpxe7fu0cj_hp_relaxed.owl Skeletal abnormalities|Skeletal anomalies|Abnormality of the skeletal system UMLS:C4021790 owl:Class HP:0033127 biolink:NamedThing Abnormality of the musculoskeletal system An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. tmpxe7fu0cj_hp_relaxed.owl 2020-09-05 13:35:03+00:00 peter owl:Class CHEBI:76773 biolink:NamedThing EC 3.1.1.* (carboxylic ester hydrolase) inhibitor An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of a carboxylic ester hydrolase (EC 3.1.1.*). tmpxe7fu0cj_hp_relaxed.owl EC 3.1.1.* inhibitors|EC 3.1.1.* (carboxylic ester hydrolase) inhibitors|EC 3.1.1.* inhibitor|carboxylic ester hydrolase (EC 3.1.1.*) inhibitor|carboxylic ester hydrolase (EC 3.1.1.*) inhibitors chebi_ontology owl:Class GO:0045913 biolink:NamedThing positive regulation of carbohydrate metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate. tmpxe7fu0cj_hp_relaxed.owl upregulation of carbohydrate metabolic process|stimulation of carbohydrate metabolic process|activation of carbohydrate metabolic process|up-regulation of carbohydrate metabolic process|up regulation of carbohydrate metabolic process|positive regulation of carbohydrate metabolism biological_process owl:Class HP:0011500 biolink:NamedThing Polycoria Multiple pupils. tmpxe7fu0cj_hp_relaxed.owl Multiple pupils SNOMEDCT_US:204159004|UMLS:C0344544 peter 2012-04-04T07:19:56Z human_phenotype owl:Class HP:0004343 biolink:NamedThing Abnormal glycosphingolipid metabolism An abnormality of glycosphingolipid metabolism. tmpxe7fu0cj_hp_relaxed.owl Abnormality of glycosphingolipid metabolism UMLS:C4025350 Glycosphingolipids are a subtype of glycolipids containing the amino alcohol sphingosine. A glycosphingolipid is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid. peter 2008-03-08T08:35:00Z owl:Class HP:0010969 biolink:NamedThing Abnormality of glycolipid metabolism An abnormality of glycolipid metabolism. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023621 peter 2011-01-27T09:25:31Z human_phenotype owl:Class HP:0033936 biolink:NamedThing Cortical radial artery intima/media liquefactive necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. tmpxe7fu0cj_hp_relaxed.owl Liquefactive necrosis within interlobular arterial intima/media 2021-06-24 01:39:31+00:00 peter owl:Class HP:0033935 biolink:NamedThing Cortical radial artery intima/media necrosis Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. tmpxe7fu0cj_hp_relaxed.owl Necrosis within interlobular arterial intima/media 2021-06-24 01:36:18+00:00 peter owl:Class HP:0007200 biolink:NamedThing Episodic hypersomnia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024925 human_phenotype owl:Class HP:0100786 biolink:NamedThing Hypersomnia tmpxe7fu0cj_hp_relaxed.owl Excessive sleepiness SNOMEDCT_US:77692006|UMLS:C0917799|MSH:D006970 doelkens 2011-06-07T06:15:07Z human_phenotype owl:Class HP:0000068 biolink:NamedThing Urethral atresia Congenital anomaly characterized by closure or failure to develop an opening in the urethra. tmpxe7fu0cj_hp_relaxed.owl Absent urethral opening|Urethral opening absent UMLS:C1610065 human_phenotype owl:Class GO:0031175 biolink:NamedThing neuron projection development The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpxe7fu0cj_hp_relaxed.owl neurite growth|neurite outgrowth|neurite development|neurite formation|neurite biosynthesis biological_process owl:Class GO:0120036 biolink:NamedThing plasma membrane bounded cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/13298 krc 2017-04-26T16:07:02Z biological_process owl:Class GO:0046621 biolink:NamedThing negative regulation of organ growth Any process that stops, prevents, or reduces the frequency, rate or extent of growth of an organ of an organism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0006149 biolink:NamedThing Increased laxity of fingers tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850855 human_phenotype owl:Class CHEBI:15904 biolink:NamedThing long-chain fatty acid A fatty acid with a chain length ranging from C13 to C22. tmpxe7fu0cj_hp_relaxed.owl long-chain fatty acids|Long-chain fatty acid|LCFA|LCFAs|Higher fatty acid 0 CHO2R 45.017 44.99765 OC([*])=O KEGG:C00638 CHEBI:6528|CHEBI:13655|CHEBI:14529|CHEBI:25075 chebi_ontology owl:Class HP:0000584 biolink:NamedThing Punctate corneal epithelial erosions tmpxe7fu0cj_hp_relaxed.owl UMLS:C1832170 human_phenotype owl:Class HP:0200020 biolink:NamedThing Corneal erosion An erosion or abrasion of the cornea's outermost layer of epithelial cells. tmpxe7fu0cj_hp_relaxed.owl Damage to outer layer of the cornea of the eye SNOMEDCT_US:50792001|UMLS:C0392163 sebastiankohler 2010-06-16T01:50:48Z human_phenotype owl:Class UBERON:0005309 biolink:NamedThing pronephric nephron A pronephric nephron is the functional unit of the pronephros[GO]. tmpxe7fu0cj_hp_relaxed.owl AAO:0011091|XAO:0000285 uberon owl:Class The structure that is the basic functional unit of the pronephros.[AAO] UBERON:0011602 biolink:NamedThing gingiva of lower jaw A gingiva that is part of a lower jaw region. tmpxe7fu0cj_hp_relaxed.owl gum of lower jaw|lower jaw gingiva|gum of mandible|lower jaw gum|lower gum|mandibular gum|lower gingiva EMAPA:18967|FMA:59764|NCIT:C54204 uberon owl:Class UBERON:0001828 biolink:NamedThing gingiva The fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth[Glossary of Periodontal Terms 2001]. tmpxe7fu0cj_hp_relaxed.owl gum tissue|gum|gingival mucosa|gums EV:0100064|FMA:59762|VHOG:0001269|EFO:0001925|NCIT:C32677|galen:Gingiva|CALOHA:TS-2074|BTO:0000519|UMLS:C0017562|MESH:A14.254.646.480|MA:0000342|GAID:1257|EMAPA:35945|OpenCyc:Mx4rvViWnZwpEbGdrcN5Y29ycA Tooth:Section.svg FMA has a 3-level breakdown of jaws into: region, jaw (skeleton+gums), skeleton. uberon owl:Class gingival HP:0030183 biolink:NamedThing Impaired visually enhanced vestibulo-ocular reflex The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR). tmpxe7fu0cj_hp_relaxed.owl Visually enhanced vestibulo-ocular reflex impairment|VVOR impairment UMLS:C4021047 owl:Class HP:0007670 biolink:NamedThing Abnormal vestibulo-ocular reflex An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude. tmpxe7fu0cj_hp_relaxed.owl Abnormal vestibuloocular reflex UMLS:C4021571 human_phenotype owl:Class GO:0002687 biolink:NamedThing positive regulation of leukocyte migration Any process that activates or increases the frequency, rate, or extent of leukocyte migration. tmpxe7fu0cj_hp_relaxed.owl up-regulation of leukocyte migration|stimulation of leukocyte migration|positive regulation of leucocyte migration|up regulation of leukocyte migration|upregulation of leukocyte migration|activation of leukocyte migration|positive regulation of immune cell migration biological_process owl:Class HP:0410234 biolink:NamedThing Increased anti-parasite IgE antibody level Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii. tmpxe7fu0cj_hp_relaxed.owl 2018-10-03 22:42:54+00:00 owl:Class HP:0100926 biolink:NamedThing Sclerosis of 2nd toe phalanx An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in 2nd toe bone|Sclerosis of the phalanges of the 2nd toe UMLS:C4020930 human_phenotype owl:Class HP:0032621 biolink:NamedThing Hyperchromasia of renal tubular epithelial cells At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. tmpxe7fu0cj_hp_relaxed.owl Condensed chromatin of renal tubular epithelial cells peter owl:Class HP:0007104 biolink:NamedThing Prolonged somatosensory evoked potentials tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024939 human_phenotype owl:Class HP:0003634 biolink:NamedThing Amyoplasia Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue. tmpxe7fu0cj_hp_relaxed.owl Congenital absence of muscles|Absent muscles since birth SNOMEDCT_US:205532005|UMLS:C0432185 HP:0008990 human_phenotype owl:Class HP:0010262 biolink:NamedThing Irregular epiphyses of the middle phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Irregular end part of middle hand bones UMLS:C4023939 doelkens 2009-07-06T04:24:15Z human_phenotype owl:Class CHEBI:16010 biolink:NamedThing 5-oxoproline An oxoproline having the oxo group placed at the 5-position. It is an intermediate metabolite in the glutathione cycle. tmpxe7fu0cj_hp_relaxed.owl 5-Oxoproline|5-oxo-DL-proline|5-Pyrrolidone-2-carboxylic acid|5-oxopyrrolidine-2-carboxylic acid|Pyroglutamic acid|Pyroglutamate|Glp|5-OXOPROLINE|2-pyrrolidone-5-carboxylic acid|5-oxoproline 0 C5H7NO3 InChI=1S/C5H7NO3/c7-4-2-1-3(6-4)5(8)9/h3H,1-2H2,(H,6,7)(H,8,9) ODHCTXKNWHHXJC-UHFFFAOYSA-N 129.11400 129.04259 OC(=O)C1CCC(=O)N1 CAS:149-87-1|Beilstein:82131|PMID:17439666|Reaxys:82131|PMID:23217740|Wikipedia:Pyroglutamic_acid|PMID:22770225 CHEBI:12157|CHEBI:2116|CHEBI:44943|CHEBI:20624 chebi_ontology owl:Class GO:0080171 biolink:NamedThing lytic vacuole organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lytic vacuole. tmpxe7fu0cj_hp_relaxed.owl lytic vacuole organisation|lytic vacuole organization and biogenesis|lytic vacuole biogenesis|lytic vacuolar assembly dhl 2011-04-25T04:40:46Z biological_process owl:Class HP:0033808 biolink:NamedThing Spermatocele A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily. tmpxe7fu0cj_hp_relaxed.owl 2021-05-08 15:33:22+00:00 Spermatoceles are frequently seen on scrotal ultrasound as an incidental finding and may be present in up to 30% of patients. peter owl:Class PR:000003969 biolink:NamedThing alkaline phosphatase, placental type A protein that is a translation product of the human ALPP gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl PLAP|alkaline phosphatase Regan isozyme|PLAP-1|ALPP|placental alkaline phosphatase 1 Category=gene. protein owl:Class HP:0009924 biolink:NamedThing Aplasia/Hypoplasia involving the nose Underdevelopment or absence of the nose or parts thereof. tmpxe7fu0cj_hp_relaxed.owl Hypotrophic nose|Decreased nasal size|Decreased size of nose|Hypoplasia of the nose SNOMEDCT_US:93278002|SNOMEDCT_US:204519007|UMLS:C4280392|UMLS:C0685684|UMLS:C4024159 peter 2009-05-05T06:44:04Z human_phenotype owl:Class UBERON:0001425 biolink:NamedThing pectoral lymphatic vessel tmpxe7fu0cj_hp_relaxed.owl PL ZFA:0005107|TAO:0005107|FMA:234865 uberon owl:Class UBERON:0001473 biolink:NamedThing lymphatic vessel A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]. tmpxe7fu0cj_hp_relaxed.owl vas lymphaticum|lymph vessel EMAPA:35532|CALOHA:TS-2102|AAO:0011005|MAT:0000443|VHOG:0001249|UMLS:C0229889|XAO:0000375|BTO:0000752|OpenCyc:Mx4rwA1fYZwpEbGdrcN5Y29ycA|NCIT:C33038|TAO:0005105|FMA:30315|MA:0000138|EFO:0000873 http://upload.wikimedia.org/wikipedia/commons/4/44/Illu_lymph_capillary.jpg uberon owl:Class A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep.[TAO]|A vessel that contains or conveys lymph.[AAO] Tetrapods have evolved distinct lymphatic systems, in which lymphatic capillaries help drain most of the tissues of the body.[well established][VHOG] UBERON:0005777 biolink:NamedThing glomerular basement membrane The layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter. tmpxe7fu0cj_hp_relaxed.owl glomerular capillary basement membrane|glomerular filtration membrane|GBM ZFA:0005285|MA:0001659|EMAPA:28251|NCIT:C32683|FMA:74274|EMAPA:30965|UMLS:C0599297|TAO:0005285 http://upload.wikimedia.org/wikipedia/commons/d/de/PhysiologieGlom%C3%A9rulaire.png uberon owl:Class Membrane between the mesonephric podocytes and the renal glomerular capillaries. It is a trilaminar structure composed of the fused basement membranes of the glomerular capillaries and basement membrane of the podocytes. The capillary membranes touch the GBM at contact points that are separated by pores. The membrane is semi-permeable allowing water and small molecules to pass into the renal capsular space.[TAO] GO:0040019 biolink:NamedThing positive regulation of embryonic development Any process that activates or increases the frequency, rate or extent of embryonic development. tmpxe7fu0cj_hp_relaxed.owl stimulation of embryonic development|up regulation of embryonic development|up-regulation of embryonic development|activation of embryonic development|upregulation of embryonic development biological_process owl:Class HP:0000291 biolink:NamedThing Abnormality of facial adipose tissue tmpxe7fu0cj_hp_relaxed.owl Abnormality of facial fat|Deformity of facial adipose tissue|Malformation of facial adipose tissue UMLS:C4025866 human_phenotype owl:Class HP:0011799 biolink:NamedThing Abnormality of facial soft tissue tmpxe7fu0cj_hp_relaxed.owl Anomaly of facial soft tissue|Deformity of facial soft tissue|Abnormality of facial soft tissue|Malformation of facial soft tissue UMLS:C4023183 peter 2012-04-23T07:27:57Z human_phenotype owl:Class HP:0032091 biolink:NamedThing Translamellar aortic medial fibrosis A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units. tmpxe7fu0cj_hp_relaxed.owl 2018-10-14 15:08:22+00:00 peter owl:Class HP:0032089 biolink:NamedThing Aortic medial fibrosis An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units). tmpxe7fu0cj_hp_relaxed.owl 2018-10-14 15:05:54+00:00 peter owl:Class UBERON:0001044 biolink:NamedThing saliva-secreting gland Saliva-secreting exocrine glands of the oral cavity[GO]. tmpxe7fu0cj_hp_relaxed.owl glandulae salivariae|salivary gland MESH:D012469|MIAA:0000079|MA:0000346|EHDAA:7987|EHDAA2:0001775|MAT:0000079|EV:0100059|BTO:0001203|galen:SalivaryGland|EMAPA:17751|NCIT:C12426|VHOG:0000376|FMA:9597|UMLS:C0036098|EFO:0000859|CALOHA:TS-0892|OpenCyc:Mx4rvVjl5ZwpEbGdrcN5Y29ycA|FBbt:00005382|GAID:937 currently we define saliva and salivary glands very generally in functional terms but it may be more appropriate to split this class. From WP: In most vertebrates, saliva does not contain any enzymes, consisting of mucus and water only, and its primary function is to moisten food while eating. As a result, true salivary glands are rarely found in fish or aquatic tetrapods, although there are often individual mucus-secreting cells. Amphibians have a single salivary gland, the intermaxillary gland, located in the forward part of the palate. Reptiles and birds normally have only very small glands on the lips, palate, and base of the mouth, although there are some birds with large glands, which produce a sticky saliva that helps in nest-building. The distinct parotid, submandibular, and sublingual glands are only developed in mammals. http://upload.wikimedia.org/wikipedia/commons/5/51/Illu_quiz_hn_02.jpg uberon owl:Class A gland that produces the saliva. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-25, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] In air-feeding animals, the lack of water column to lubricate the food has been compensated for by the evolution of the salivary glands. These glands are present only in amniotes and are controlled by the parasympathetic system.[well established][VHOG] The salivary glands in mammals are exocrine glands, glands with ducts, that produce saliva. They also secrete amylase, an enzyme that breaks down starch into maltose. In other organisms such as insects, salivary glands are often used to produce biologically important proteins like silk or glues, and fly salivary glands contain polytene chromosomes that have been useful in genetic research. The salivary glands of some species are modified to produce enzymes; salivary amylase is found in many, but by no means all, bird and mammal species (including humans, as noted above). Furthermore, the venom glands of poisonous snakes, Gila monsters, and some shrews, are modified salivary glands GO:0001839 biolink:NamedThing neural plate morphogenesis The process in which the anatomical structures of the neural plate are generated and organized. The neural plate is a specialized region of columnar epithelial cells in the dorsal ectoderm that will give rise to nervous system tissue. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0001115 biolink:NamedThing Posterior polar cataract A polar cataract that affects the posterior pole of the lens. tmpxe7fu0cj_hp_relaxed.owl Polar cataract, posterior UMLS:C1850191 human_phenotype owl:Class HP:0010696 biolink:NamedThing Polar cataract A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2025392 peter 2010-03-20T02:36:22Z human_phenotype owl:Class HP:0410282 biolink:NamedThing Abnormal circulating amylase level A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. tmpxe7fu0cj_hp_relaxed.owl 2018-12-04 01:35:56+00:00 owl:Class UBERON:0005854 biolink:NamedThing cervical spinal cord ventral column A subdivision of spinal cord ventral column that is part of a cervical spinal cord. tmpxe7fu0cj_hp_relaxed.owl cervical spinal cord anterior column UMLS:C0228619|BIRNLEX:1660|UMLS:C1278746 uberon owl:Class HP:0025271 biolink:NamedThing Esophageal spasms Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful. tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 13:45:05+00:00 HPO:probinson owl:Class UBERON:0004652 biolink:NamedThing humerus diaphysis The body or shaft of the humerus is almost cylindrical in the upper half of its extent, prismatic and flattened below, and has three borders and three surfaces. tmpxe7fu0cj_hp_relaxed.owl body of humerus|body of the humerus|shaft of humerus|shaft of the humerus|diaphysis of humerus|medial humerus|corpus humeri|humeral diaphysis FMA:13305|EMAPA:25051|NCIT:C120671|MA:0002807 uberon owl:Class HP:0020154 biolink:NamedThing Nevus comedonicus A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones. tmpxe7fu0cj_hp_relaxed.owl Nevus comedonicus has a predilection for the face and neck area. Nevus comedonicus presents with grouped, dilated, plugged follicular ostia in a honeycomb pattern. The plugged ostia contain lamellated keratinaceous material. Their appearance resembles black dots but the material cannot be easily removed mechanically in contrast to acne comedones. Nevus comedonicus lesions might present with various patterns of distribution: unilateral, bilateral, linear, interrupted, segmental, or blaschkoid. robinp 2019-07-05 21:03:08+00:00 owl:Class HP:0010816 biolink:NamedThing Epidermal nevus Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. tmpxe7fu0cj_hp_relaxed.owl Epidermal nevi MSH:C580062|UMLS:C0334082|SNOMEDCT_US:239107007|SNOMEDCT_US:25201003 Epidermal nevus arises from a defect in the ectoderm and in general are due to an overgrowth of keratinocytes. Subclasses of epidermal nevus include Linear epidermal naevus, epidermolytic epidermal naevus, acantholytic epidermal naevus, linear porokeratosis, and systematised epidermal naevus. Several other conditions are also characterised by benign overgrowth of the epidermis and its appendages (organoid naevi), including inflammatory linear verrucous epidermal naevus, sebaceous naevus, sweat gland naevi, comedone naevus, and Becker naevus. peter 2010-07-10T12:12:32Z human_phenotype owl:Class UBERON:0009539 biolink:NamedThing mesenchyme of submandibular gland primordium Mesenchyme that is part of a submandibular gland primordium. tmpxe7fu0cj_hp_relaxed.owl submaxillary gland primordium mesenchyme EMAPA:17757|EHDAA2:0001941 uberon owl:Class HP:0002580 biolink:NamedThing Volvulus Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0042961|MSH:D045822|SNOMEDCT_US:90738007|SNOMEDCT_US:9707006 Volvulus can lead to intestinal obstruction and ischemia. human_phenotype owl:Class HP:0031284 biolink:NamedThing Flushing Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 20:14:18+00:00 Flushing can occur on the face, neck and, less frequently, the upper trunk and abdomen. peter owl:Class UBERON:0005046 biolink:NamedThing mucosa of hard palate A mucosa that is part of a hard palate [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hard palate mucosa|mucous membrane of hard palate|hard palate mucous membrane|organ mucosa of hard palate FMA:59783 uberon owl:Class UBERON:0005019 biolink:NamedThing mucosa of palate A mucosa that is part of a palate [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl palate mucous membrane|mucous membrane of palate|roof of mouth mucosa|roof of mouth organ mucosa|roof of mouth mucous membrane|mucous membrane of oral roof|mucosa of organ of roof of mouth|organ mucosa of roof of mouth|palate organ mucosa|mucosa of organ of palate|mucosa of roof of mouth|organ mucosa of oral roof|mucous membrane of roof of mouth|organ mucosa of palate|oral roof mucous membrane|oral roof organ mucosa|palate mucosa of organ|mucosa of organ of oral roof|oral roof mucosa|palate mucosa|mucosa of oral roof|oral roof mucosa of organ|roof of mouth mucosa of organ FMA:59765 uberon owl:Class GO:0045124 biolink:NamedThing regulation of bone resorption Any process that modulates the frequency, rate or extent of bone tissue loss (resorption). tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025148 biolink:NamedThing Dark choroid A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid). tmpxe7fu0cj_hp_relaxed.owl 2016-11-29 11:49:16+00:00 The cause of dark choroid is thought to relate to the deposition of an abnormal material (lipofuscin) in the retinal pigment epithelial cells. HPO:probinson owl:Class UBERON:0013632 biolink:NamedThing sesamoid cartilage A sesamoid element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl cartilago sesamoidea|sesamoid cartilage of cricopharyngeal ligament FMA:55379 uberon owl:Class UBERON:0013631 biolink:NamedThing sesamoid element Ossicle that develops within bands of dense, regular connective tissue (e.g., tendons and ligaments). Sesamoids are generally located proximate to a bony prominence, over which the dense regular connective tissue wraps, and/or a joint or articulation. tmpxe7fu0cj_hp_relaxed.owl sesamoid VSAO:0000137 Sesamoids are often endochondral replacement elements and in addition to bone tissue, may also be composed of articular cartilage, fibrocartilage, hyaline cartilage, and calcified cartilage. uberon owl:Class HP:0034014 biolink:NamedThing Tubulonodular pericallosal lipoma A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles. tmpxe7fu0cj_hp_relaxed.owl 2021-09-04 14:51:33+00:00 peter owl:Class HP:0006931 biolink:NamedThing Pericallosal lipoma Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain. tmpxe7fu0cj_hp_relaxed.owl Lipoma of corpus callosum UMLS:C1333160 owl:Class HP:0031801 biolink:NamedThing Vocal cord dysfunction Any functional anomaly of the vocal cord. tmpxe7fu0cj_hp_relaxed.owl 2018-03-04 12:07:39+00:00 peter owl:Class UBERON:0001584 biolink:NamedThing left subclavian artery The subclavian artery that supplies the left pectoral appendage. tmpxe7fu0cj_hp_relaxed.owl arteria subclavia (sinistra) FMA:4694|NCIT:C32972|OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rvp8u1JwpEbGdrcN5Y29ycA|EMAPA:37100|UMLS:C0226262|MA:0002046|OpenCyc:Mx4rtW7hw6gEEdudWQACs5b6Bw http://upload.wikimedia.org/wikipedia/commons/e/e6/Gray506.svg uberon owl:Class in humans, branches off the arch of aorta arises from left intersegmental 6th artery in the region of the 6th -7th cervical segment in humans HP:0031541 biolink:NamedThing Linear C3 deposits along the epidermal basement membrane zone Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 01:36:15+00:00 peter owl:Class HP:0031538 biolink:NamedThing Abnormal dermoepidermal junction morphology Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 01:32:24+00:00 peter owl:Class HP:0003934 biolink:NamedThing Slender humeral diaphysis tmpxe7fu0cj_hp_relaxed.owl Slender shaft of long bone in upper arm UMLS:C4025495 human_phenotype owl:Class HP:0003926 biolink:NamedThing Abnormality of the humeral diaphysis An anomaly of the humeral diaphysis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of shaft of long bone in upper arm UMLS:C4025502 human_phenotype owl:Class HP:0004637 biolink:NamedThing Decreased cervical spine mobility tmpxe7fu0cj_hp_relaxed.owl Limited neck movement UMLS:C1859692 owl:Class UBERON:0008811 biolink:NamedThing intromittent organ An external organ of a male organism that is specialized to deliver sperm during copulation. Intromittent organs are found most often in terrestrial species, as most aquatic species fertilize their eggs externally, although there are exceptions[WP]. tmpxe7fu0cj_hp_relaxed.owl aedeagus|penis|copulatory organ AAO:0010255|TAO:0002036|TGMA:0000585|HAO:0000091|FBbt:00004850 this is a broad grouping class connecting a number of different analagous organs by their function. We place the insect aedeagus here rather than penis, although this is somewhat arbitrary given the broadness of the current definition uberon owl:Class Surface structure that is an external structure of a male organism through which sperm is transferred to a female organism during mating.[TAO] HP:0007552 biolink:NamedThing Abnormal subcutaneous fat tissue distribution tmpxe7fu0cj_hp_relaxed.owl Abnormal fat tissue distribution below the skin UMLS:C1859347 human_phenotype owl:Class UBERON:0004337 biolink:NamedThing distal phalanx of manual digit 1 A distal phalanx that is part of a hand digit 1 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl thumb distal phalanx|manual digit 1 distal phalanx|pollical distal phalanx|PDP|distal phalanx of thumb|distal phalanx of manual digit I|first distal phalanx of hand|distal phalanx of first digit of hand FMA:23945 uberon owl:Class The human pollical distal phalanx (PDP) has a pronounced insertion for the flexor pollicis longus (asymmetric towards the radial side), an ungual fossa, and a pair of dissymmetric ungual spines (the ulnar being more prominent). This asymmetry is necessary to ensure that the thumb pulp is always facing the pulps of the other digits, an osteological configuration which provides the maximum contact surface with held objects. UBERON:0003620 biolink:NamedThing manual digit 1 phalanx A phalanx that is part of a hand digit 1 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl phalanx of hand digit 1|hand digit 1 phalanx|thumb phalanx|manual digit I phalanx|phalanx of thumb|fore limb digit 1 phalanx MA:0001389|EMAPA:19113|FMA:35477|UMLS:C1711344|NCIT:C52777 uberon owl:Class HP:0031836 biolink:NamedThing Increased superoxide dismutase level Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. tmpxe7fu0cj_hp_relaxed.owl Increased superoxide:superoxide oxidoreductase activity 2018-05-05 13:01:09+00:00 peter owl:Class HP:0031835 biolink:NamedThing Abnormal superoxide dismutase level An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. tmpxe7fu0cj_hp_relaxed.owl Abnormal superoxide:superoxide oxidoreductase activity 2018-05-05 12:59:29+00:00 peter owl:Class UBERON:0004521 biolink:NamedThing vasculature of muscle organ A vasculature that is part of a muscle organ [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscular organ vasculature FMA:87123 uberon owl:Class UBERON:0006876 biolink:NamedThing vasculature of organ A vasculature that is part of a organ. tmpxe7fu0cj_hp_relaxed.owl set of blood vessels of organ|organ vasculature FMA:74612 uberon owl:Class CHEBI:27612 biolink:NamedThing hydantoin tmpxe7fu0cj_hp_relaxed.owl imidazole-2,4(3H,5H)-dione|2,4-imidazolidinedione|Glycolylurea|2,4(3H,5H)-imidazoledione|imidazolidine-2,4-dione|Hydantoin 0 C3H4N2O2 InChI=1S/C3H4N2O2/c6-2-1-4-3(7)5-2/h1H2,(H2,4,5,6,7) WJRBRSLFGCUECM-UHFFFAOYSA-N 100.07614 100.02728 O=C1CNC(=O)N1 KEGG:C05146|Beilstein:110598|Gmelin:101266|PDBeChem:HYN|CAS:461-72-3 CHEBI:24625|CHEBI:5773 chebi_ontology owl:Class CHEBI:24628 biolink:NamedThing imidazolidine-2,4-dione An imidazolidinone with oxo groups at position 2 and 4. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class GO:2000496 biolink:NamedThing negative regulation of cell proliferation involved in compound eye morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of cell proliferation involved in compound eye morphogenesis. tmpxe7fu0cj_hp_relaxed.owl bf 2011-03-18T02:19:22Z biological_process owl:Class HP:0009771 biolink:NamedThing Osteolytic defects of the phalanges of the hand Dissolution or degeneration of bone tissue of the phalanges of the hand. tmpxe7fu0cj_hp_relaxed.owl Acroosteolysis|Acro-osteolysis|Breakdown of small bones of fingers UMLS:C0917990|SNOMEDCT_US:27201004|SNOMEDCT_US:63122002|MSH:D030981 doelkens 2009-02-02T11:38:04Z HP:0001179 human_phenotype owl:Class HP:0009699 biolink:NamedThing Osteolytic defects of the hand bones tmpxe7fu0cj_hp_relaxed.owl Lytic defects of hand bones UMLS:C4021400 doelkens 2009-01-30T04:08:52Z HP:0004282|HP:0006082 human_phenotype owl:Class UBERON:0005988 biolink:NamedThing atrium myocardial trabecula The supporting bundles of muscular fibers lining the walls of the atrial myocardium. tmpxe7fu0cj_hp_relaxed.owl trabecular layer of atrium|trabecular layer of the atrium|atrial trabecula|atrium myocardial trabeculae|trabecula of atrium EMAPA:37432|ZFA:0005810 uberon owl:Class GO:0098928 biolink:NamedThing presynaptic signal transduction Signal transduction in which the initial step occurs in a presynapse. tmpxe7fu0cj_hp_relaxed.owl presynaptic signaling pathway Do not directly annotate. This term intended for grouping. Annotate to either a subclass or to some other subclass of signal transduction extended with has_start_location/occurs_in presynapse or one of its parts. Such extensions will result in automatic annotation to this term. biological_process owl:Class NCBITaxon:451864 biolink:NamedThing Dikarya tmpxe7fu0cj_hp_relaxed.owl GC_ID:1|PMID:17572334|PMID:17010206|PMID:17051209|PMID:16151185|PMID:15689432 ncbi_taxonomy owl:Class NCBITaxon:4751 biolink:NamedThing Fungi tmpxe7fu0cj_hp_relaxed.owl Mycota|fungi PMID:11062127|GC_ID:1|PMID:12684019 ncbi_taxonomy owl:Class UBERON:0001490 biolink:NamedThing elbow joint A joint that connects the forelimb zeugopod and stylopod skeletons[Obol]. tmpxe7fu0cj_hp_relaxed.owl articulatio cubiti|cubital region joint|joint of cubital region|joint of elbow MA:0000451|FMA:35289|VHOG:0000997|galen:ElbowJoint|NCIT:C32497|UMLS:C0013770|GAID:253|EMAPA:19102|MESH:D004551 uberon owl:Class In human anatomy, the elbow joint is a compound joint that actually comprises three separate joints: the joints connecting the upper and lower arm: 1) Articulatio humero-ulnaris and 2) Articulatio humero-radialis as well as the proximal joint connecting the forarm bones: 3) Articulatio radio-ulnaris proximalis UBERON:0000457 biolink:NamedThing cavernous artery Any of several small branches of the internal carotid artery that supply the trigeminal ganglion and the walls of the cavernous and petrosal sinuses. tmpxe7fu0cj_hp_relaxed.owl cavernous branch of cavernous part of internal carotid artery|ramus sinus cavernosi (pars cavernosa) (arteria carotis interna) BTO:0002996|FMA:70527 uberon owl:Class HP:0008376 biolink:NamedThing Nasal, dysarthic speech tmpxe7fu0cj_hp_relaxed.owl Breathy speech UMLS:C1834664 human_phenotype owl:Class HP:0001260 biolink:NamedThing Dysarthria Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. tmpxe7fu0cj_hp_relaxed.owl Dysarthric speech|Difficulty articulating speech MSH:D004401|UMLS:C0013362|SNOMEDCT_US:8011004 HP:0002327 human_phenotype owl:Class GO:0008289 biolink:NamedThing lipid binding Binding to a lipid. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class UBERON:0005295 biolink:NamedThing sex cord Cordlike masses of epithelial tissue that invaginate from germinal epithelium of the gonad and give rise to seminiferous tubules and rete testes in the male, and primary ovarian follicles and rete ovarii in the female. tmpxe7fu0cj_hp_relaxed.owl gonadal cord|gonad cord|genital cord|primitive sex cord EHDAA2:0004051|UMLS:C1512242|NCIT:C34183|RETIRED_EHDAA2:0001523 uberon owl:Class HP:0007209 biolink:NamedThing Facial paralysis Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). tmpxe7fu0cj_hp_relaxed.owl Facial paralysis|Facial paresis UMLS:C0015469|SNOMEDCT_US:280816001|UMLS:C0427055|SNOMEDCT_US:95666008|MSH:D005158 Facial paralysis can be caused by compression of the facial nerve.The main difference between facial paralysis and Palsy is cause for the paralysis can be identified, be it a tumor, infection, or nerve damage. Facial paralysis, in most cases, also appears more permanent than Bell's Palsy, with cases lasting for years to life if a patient doesn't seek treatment. HP:0007358 human_phenotype owl:Class UBERON:0037144 biolink:NamedThing wall of heart Wall of organ which has as its parts the endocardium, myocardium , epicardium, and the cardiac septum, surrounded by the pericardial sac proper and is continuous with the walls of the systemic and pulmonary arterial and venous trees. tmpxe7fu0cj_hp_relaxed.owl cardiac wall FMA:7274 uberon owl:Class PR:000001954 biolink:NamedThing tumor necrosis factor receptor superfamily member 11A A protein that is a translation product of the human TNFRSF11A gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl receptor activator of NF-KB|RANK|TNFRSF11A|CD265|ODFR|osteoclast differentiation factor receptor PIRSF:PIRSF038806|IUPHARobj:1881 Category=gene. Requested by=CL. protein owl:Class UBERON:0005048 biolink:NamedThing mucosa of uterine tube A mucosa that is part of a fallopian tube [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl uterine tubal mucosa|organ mucosa of fallopian tube|fallopian tube mucosa of organ|mucosa of fallopian tube|tunica mucosa tubae uterinae|uterine tube mucous membrane|fallopian tube mucosa|mucous membrane of uterine tube|mucosa of organ of fallopian tube|mucosa of oviduct|organ mucosa of uterine tube|mucosa of organ of uterine tube|uterine tube mucosa of organ|fallopian tube mucous membrane|mucous membrane of fallopian tube|fallopian tube organ mucosa|uterine tube organ mucosa|uterine tube mucosa FMA:18319 uberon owl:Class GO:1902340 biolink:NamedThing negative regulation of chromosome condensation Any process that stops, prevents or reduces the frequency, rate or extent of chromosome condensation. tmpxe7fu0cj_hp_relaxed.owl down regulation of chromosome condensation|down-regulation of eukaryotic chromosome condensation|negative regulation of eukaryotic chromosome condensation|downregulation of chromosome condensation|down regulation of eukaryotic chromosome condensation|inhibition of eukaryotic chromosome condensation|negative regulation of nuclear chromosome condensation|inhibition of nuclear chromosome condensation|downregulation of eukaryotic chromosome condensation|down-regulation of chromosome condensation|inhibition of chromosome condensation|down-regulation of nuclear chromosome condensation|down regulation of nuclear chromosome condensation|downregulation of nuclear chromosome condensation dgf 2013-07-29T20:54:14Z biological_process owl:Class UBERON:0008435 biolink:NamedThing vertebral arch of sacral segment A neural arch that is part of a sacral vertebra. tmpxe7fu0cj_hp_relaxed.owl FMA:32401 uberon owl:Class HP:0500197 biolink:NamedThing Increased CSF glutamine concentration Abnormally increased levels of glutamine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High glutamine levels in cerebrospinal fluid 2019-02-25 16:43:02+00:00 owl:Class HP:0500196 biolink:NamedThing Abnormal CSF glutamine concentration Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal glutamine levels in cerebrospinal fluid 2019-02-25 16:42:34+00:00 owl:Class UBERON:0018667 biolink:NamedThing neck of scapula tmpxe7fu0cj_hp_relaxed.owl scapular neck|anatomical neck of scapula FMA:23254 uberon owl:Class UBERON:0011865 biolink:NamedThing corneal stroma collagen fibril The connective tissue bundles in the extracellular matrix of corneal stroma that are composed of collagen, and play a role in tissue strength and elasticity. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0006664 biolink:NamedThing glycolipid metabolic process The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent. tmpxe7fu0cj_hp_relaxed.owl glycolipid metabolism biological_process owl:Class GO:1903509 biolink:NamedThing liposaccharide metabolic process The chemical reactions and pathways involving liposaccharide. tmpxe7fu0cj_hp_relaxed.owl liposaccharide metabolism dph 2014-10-01T21:52:52Z biological_process owl:Class HP:0010321 biolink:NamedThing Abnormality of the 4th toe An anomaly of the fourth toe. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the 4th toe UMLS:C4023906 doelkens 2009-07-16T11:37:12Z human_phenotype owl:Class HP:0009856 biolink:NamedThing Patchy sclerosis of proximal phalanx of finger Uneven increase in bone density of the proximal phalanges of the hand. tmpxe7fu0cj_hp_relaxed.owl Patchy sclerosis of the proximal phalanges of the hand|Uneven increase in bone density in innermost finger bone UMLS:C4021381 doelkens 2009-03-11T12:16:33Z HP:0009869 human_phenotype owl:Class GO:0050891 biolink:NamedThing multicellular organismal water homeostasis tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0030104 biolink:NamedThing water homeostasis tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0010271 biolink:NamedThing Enlarged epiphyses of the proximal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the innermost hand bones UMLS:C4023930 doelkens 2009-07-06T04:25:12Z human_phenotype owl:Class HP:0025035 biolink:NamedThing Abnormal proerythroblast morphology Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. tmpxe7fu0cj_hp_relaxed.owl 2016-09-02 11:16:54+00:00 HPO:probinson owl:Class HP:0012130 biolink:NamedThing Abnormal erythroid lineage cell morphology An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cells of the erythroid lineage UMLS:C4020862 peter 2012-09-16T07:14:03Z human_phenotype owl:Class GO:0032271 biolink:NamedThing regulation of protein polymerization Any process that modulates the frequency, rate or extent of the process of creating protein polymers. tmpxe7fu0cj_hp_relaxed.owl regulation of protein polymerisation biological_process owl:Class HP:0010805 biolink:NamedThing Upturned corners of mouth Oral commissures positioned superior to the midline labial fissure. tmpxe7fu0cj_hp_relaxed.owl Upturned mouth|Upturned oral commisures|Upturned corners of mouth UMLS:C3553471 This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the upper lip is enlarged. peter 2010-06-26T03:17:08Z human_phenotype owl:Class HP:0031575 biolink:NamedThing Tessier number 3 facial cleft As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced. tmpxe7fu0cj_hp_relaxed.owl 2017-10-14 12:38:50+00:00 peter owl:Class UBERON:0001131 biolink:NamedThing vertebral foramen A foramen within a vertebral element through which the spinal cord runs. It is formed by the anterior segment, and the posterior part, the vertebral arch. tmpxe7fu0cj_hp_relaxed.owl foramen vertebrale|vertebra neural canal MA:0001454|OpenCyc:Mx4rv_EvQZwpEbGdrcN5Y29ycA|AAO:0000729|FMA:13479|EMAPA:37803 http://upload.wikimedia.org/wikipedia/commons/1/10/Foramenvertebrale.png uberon owl:Class Opening on the vertebra for a spinal nerve as it emerges from the spinal canal.[AAO] GO:0060266 biolink:NamedThing negative regulation of respiratory burst involved in inflammatory response Any process that decreases the rate, frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases made as a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. tmpxe7fu0cj_hp_relaxed.owl negative regulation of respiratory burst involved in acute inflammatory response biological_process owl:Class HP:0008665 biolink:NamedThing Clitoral hypertrophy Hypertrophy of the clitoris. tmpxe7fu0cj_hp_relaxed.owl Enlarged clitoris|Clitoromegaly|Prominent clitoris|Clitoral enlargement|Hypertrophic clitoris SNOMEDCT_US:80212005|UMLS:C0156394 Increased size of the clitoris. HP:0000057|HP:0008728 human_phenotype owl:Class HP:0040253 biolink:NamedThing Increased size of the clitoris tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280695 owl:Class HP:0040019 biolink:NamedThing Finger clinodactyly tmpxe7fu0cj_hp_relaxed.owl Curvature of finger UMLS:C4280298|UMLS:C0265610|SNOMEDCT_US:17268007 HPO:skoehler owl:Class UBERON:0008433 biolink:NamedThing lumbar vertebral arch A neural arch that is part of a lumbar vertebra. tmpxe7fu0cj_hp_relaxed.owl arch of lumbar vertebra FMA:16076 uberon owl:Class HP:0030074 biolink:NamedThing Chemodectoma A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract. tmpxe7fu0cj_hp_relaxed.owl Chemodectomas MSH:D002345|SNOMEDCT_US:127028003|UMLS:C0007279|SNOMEDCT_US:30699005 owl:Class HP:0002668 biolink:NamedThing Paraganglioma A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation. tmpxe7fu0cj_hp_relaxed.owl Carotid body tumours|Paragangliomas|Carotid body tumors MSH:D010235|NCIT:C3308|SNOMEDCT_US:127027008|SNOMEDCT_US:72787006|SNOMEDCT_US:253029009|UMLS:C0030421|SNOMEDCT_US:803009|SNOMEDCT_US:302833002 HP:0002670|HP:0003004 human_phenotype owl:Class HP:0004216 biolink:NamedThing Osteolytic defects of the phalanges of the 5th finger Dissolution or degeneration of bone tissue of the phalanges of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Lytic defects of the phalanges of the little finger UMLS:C4021677 human_phenotype owl:Class UBERON:0003699 biolink:NamedThing pubic symphysis The firm fibrocartilaginous joint in the median plane between the two opposing surfaces of the pubic bones, which are united by an interpubic disc of fibrocartilage as well as the superior and arcuate pubic ligaments. tmpxe7fu0cj_hp_relaxed.owl symphysis pubis|symphysis pubica|symphisis pubis|interpubic articulation FMA:16950|GAID:267|MESH:D011631|OpenCyc:Mx4rwGw9npwpEbGdrcN5Y29ycA|NCIT:C33425|EMAPA:37940|AAO:0000769|UMLS:C0034015 http://upload.wikimedia.org/wikipedia/commons/5/51/Gray321.png uberon owl:Class Medial attachment of the two halves of the pelvic girdle.[AAO] In birds, the pubic symphysis is present only in the ostrich, and the two hip bones are usually widely separated, making it easier to lay large eggs - Romer, Alfred Sherwood; Parsons, Thomas S. (1977). The Vertebrate Body. Philadelphia, PA: Holt-Saunders International. pp. 188-192. ISBN 0-03-910284-X. HP:0002015 biolink:NamedThing Dysphagia Difficulty in swallowing. tmpxe7fu0cj_hp_relaxed.owl Swallowing difficulties|Difficulty swallowing|Poor swallowing|Swallowing difficulty|Deglutition disorder SNOMEDCT_US:288939007|UMLS:C0011168|SNOMEDCT_US:40739000|MEDDRA:10013950|MSH:D003680 HP:0002569 human_phenotype owl:Class GO:1903010 biolink:NamedThing regulation of bone development Any process that modulates the frequency, rate or extent of bone development. tmpxe7fu0cj_hp_relaxed.owl mr 2014-05-13T22:41:53Z biological_process owl:Class GO:0060577 biolink:NamedThing pulmonary vein morphogenesis The process in which the anatomical structure of the pulmonary venous blood vessels are generated and organized. Pulmonary veins are blood vessels that transport blood from the lungs to the heart. tmpxe7fu0cj_hp_relaxed.owl pulmonary venous blood vessel morphogenesis dph 2009-05-06T08:44:04Z biological_process owl:Class CHEBI:134249 biolink:NamedThing alkanesulfonate oxoanion An alkanesulfonate in which the carbon at position 1 is attached to R, which can represent hydrogens, a carbon chain, or other groups. tmpxe7fu0cj_hp_relaxed.owl an alkanesulfonate|alkanesulfonate oxoanions|alkanesulfonates -1 CH2O3SR 94.091 93.97246 C(S([O-])(=O)=O)* MetaCyc:Alkanesulfonates CHEBI:22318 chebi_ontology owl:Class HP:0010406 biolink:NamedThing Bullet-shaped middle phalanx of the 2nd toe An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped middle bone of 2nd toe UMLS:C4023849 doelkens 2009-07-16T12:43:52Z human_phenotype owl:Class HP:0009566 biolink:NamedThing Short distal phalanx of the 2nd finger Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger. tmpxe7fu0cj_hp_relaxed.owl Short terminal index finger phalanx|Short distal phalanx of the second finger|Hypoplastic terminal index finger phalanx|Short outermost bone of the index finger|Hypoplastic/small distal phalanx of the 2nd finger UMLS:C4021438 doelkens 2009-01-28T04:20:22Z HP:0004145 human_phenotype owl:Class HP:0008432 biolink:NamedThing Anterior wedging of L1 An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024677 human_phenotype owl:Class UBERON:0035037 biolink:NamedThing jaw epithelium tmpxe7fu0cj_hp_relaxed.owl MA:0003220|EMAPA:32904 uberon owl:Class UBERON:0004867 biolink:NamedThing orbital cavity Anatomical cavity bounded by the orbital region of the cranium and forming the location of some or all of the eye. tmpxe7fu0cj_hp_relaxed.owl orbit ZFA:0005558|FMA:84961|AAO:0000343 uberon owl:Class note that the AAO and ZFA class is a cavity CL:0000904 biolink:NamedThing central memory CD4-positive, alpha-beta T cell CD4-positive, alpha-beta memory T cell with the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl central memory CD4-positive, alpha-beta T-cell|central memory CD4-positive, alpha-beta T lymphocyte|central memory CD4+ T cell|central CD4-positive, alpha-beta memory T-cell|central CD4-positive, alpha-beta memory T lymphocyte|central memory CD4-positive, alpha-beta T-lymphocyte|central CD4-positive, alpha-beta memory T-lymphocyte|central CD4-positive, alpha-beta memory T cell This cell type is compatible with the HIPC Lyoplate markers for 'central memory CD4+ T cell', but includes additional markers known to be expressed on central memory CD4+ T cells. cell owl:Class CL:0001204 biolink:NamedThing CD4-positive, alpha-beta memory T cell, CD45RO-positive CD4-positive, alpha-beta long-lived T cell with the phenotype CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. tmpxe7fu0cj_hp_relaxed.owl CD4-positive, alpha-beta memory T-cell, CD45RO-positive|CD4-positive, alpha-beta memory T lymphocyte, CD45RO-positive|CD4-positive, alpha-beta memory T-lymphocyte, CD45RO-positive cell owl:Class HP:0011560 biolink:NamedThing Mitral atresia A congenital defect with failure to open of the mitral valve orifice. tmpxe7fu0cj_hp_relaxed.owl Mitral valve atresia Fyler:0310|EPCC:06.02.01|UMLS:C0344760|ICD-10:Q23.2|SNOMEDCT_US:23063005|Fyler:310 peter 2012-04-07T12:04:11Z human_phenotype owl:Class UBERON:0010719 biolink:NamedThing girdle skeleton The subdivision of the skeleton of either the pectoral or pelvic girdle. tmpxe7fu0cj_hp_relaxed.owl skeleton of girdle VSAO:0000302|AAO:0010686 uberon owl:Class Skeletal subdivision that is part of the appendage girdle region.[VSAO] relationship type change: subclass skeletal subdivision (VSAO:0000042) CHANGED TO: part_of subdivision of skeleton (UBERON:0010912)[VSAO]|relationship type change: subclass skeletal subdivision (VSAO:0000042) CHANGED TO: proximally_connected_to subdivision of skeleton (UBERON:0010912)[VSAO] UBERON:0008593 biolink:NamedThing zygomaticus major muscle Facial muscle attached to the modiolus, corner (angle) of the mouth, and zygomatic bone. See Diogo 2008; Diogo et al., 2009; Burrows et al.., 2011., also DuBrul, 1980. tmpxe7fu0cj_hp_relaxed.owl zygomaticus major|zygomatic major|zygomaticcus major|zygomatic muscle|musculus zygomaticus major|zygomatic major muscle|auriculolabialis superior NCIT:C53183|FMA:46810|UMLS:C0224115|MFMO:0000138 http://upload.wikimedia.org/wikipedia/commons/7/7e/Zygomaticus.png uberon owl:Class UBERON:0010437 biolink:NamedThing zygomaticus muscle One of: zygomaticus major, zygomaticus minor. tmpxe7fu0cj_hp_relaxed.owl zygomaticus|m. zygomaticus|m. levator nasii UMLS:C1710708|NCIT:C53182|EMAPA:37703|MA:0002404 origin: posterior braincase uberon owl:Class CHEBI:18095 biolink:NamedThing trans-4-hydroxy-L-proline An optically active form of 4-hydroxyproline having L-trans-configuration. tmpxe7fu0cj_hp_relaxed.owl Hypro|L-threo-4-hydroxyproline|trans-L-Hydroxyproline|delta-hydroxyproline|trans-4-Hydroxy-L-proline|Hyp|(4R)-4-hydroxy-L-proline|Hydroxy-L-proline|L-4-Hydroxyproline|(2S,4R)-trans-4-hydroxyproline|(2S,4R)-4-hydroxy-2-pyrrolidinecarboxylic acid|Hydroxyproline|trans-4-hydroxy-L-proline|trans-Hydroxyproline 0 C5H9NO3 InChI=1S/C5H9NO3/c7-3-1-4(5(8)9)6-2-3/h3-4,6-7H,1-2H2,(H,8,9)/t3-,4+/m1/s1 PMMYEEVYMWASQN-DMTCNVIQSA-N 131.131 131.05824 [C@H]1(C[C@@H](O)CN1)C(O)=O Reaxys:81441|PMID:7248905|PMID:12148113|PMID:590925|PMID:16096557|PMID:6783274|PMID:1117843|KEGG:C01157|PMID:6625779|KNApSAcK:C00001370|PMID:7283558|CAS:51-35-4|PDBeChem:HYP|PMID:16656634|PMID:16662024|PMID:17021603|PMID:14104082|Drug_Central:4272|PMID:6616407|MetaCyc:4-HYDROXY-L-PROLINE|PMID:616023|PMID:1166829|PMID:899882|PMID:946341|PMID:15558350|PMID:14995121|PMID:7446210|PMID:16665943|HMDB:HMDB0000725|PMID:19286848 CHEBI:43210|CHEBI:10714|CHEBI:43227|CHEBI:49360|CHEBI:43318|CHEBI:12864|CHEBI:27060|CHEBI:43172 chebi_ontology owl:Class CHEBI:20392 biolink:NamedThing 4-hydroxyproline A monohydroxyproline where the hydroxy group is located at the 4-position. It is found in fibrillar collagen. tmpxe7fu0cj_hp_relaxed.owl 4-hydroxyproline|4Hyp 0 C5H9NO3 InChI=1S/C5H9NO3/c7-3-1-4(5(8)9)6-2-3/h3-4,6-7H,1-2H2,(H,8,9) PMMYEEVYMWASQN-UHFFFAOYSA-N 131.12990 131.05824 OC1CNC(C1)C(O)=O PMID:21988268|PMID:24563386|Wikipedia:Hydroxyproline|PMID:24695516|PMID:436278 chebi_ontology owl:Class UBERON:0009577 biolink:NamedThing metencephalon sulcus limitans A sulcus limitans of neural tube that is part of a future metencephalon. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001161|EMAPA:17567 uberon owl:Class UBERON:0005478 biolink:NamedThing sulcus limitans of neural tube A longitudinal groove in the neural tube wall that divides the neural tube into dorsal (alar) and ventral (basal) halves (dorsal receives input from sensory neurons, ventral effects motor functions); stretches from the mesencephalon caudad[TMD]. tmpxe7fu0cj_hp_relaxed.owl sulcus limitans|neural tube lateral wall sulcus limitans BAMS:slm|BAMS:slim|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=629 uberon owl:Class HP:0000653 biolink:NamedThing Sparse eyelashes Decreased density/number of eyelashes. tmpxe7fu0cj_hp_relaxed.owl Partial absence of eyelashes|Sparse eyelashes|Scant eyelashes|Thin eyelashes|Hypotrichosis of eyelashes|Scanty eyelashes UMLS:C1843300 HP:0004555|HP:0004777|HP:0004519|HP:0004531|HP:0007853|HP:0002284 human_phenotype owl:Class HP:0032801 biolink:NamedThing Focal impaired awareness cognitive seizure with memory impairment A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032687 biolink:NamedThing Focal cognitive seizure with memory impairment A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia). tmpxe7fu0cj_hp_relaxed.owl Amnestic seizure|Amnestic aura www.epilepsydiagnosis.org focuses on anterograde amnesia during the seizure. Both ictal retrograde and anterograde amnesia have been included here given that they are well studied as ictal manifestations of 'transient epileptic amnesia'. The clinical onset of these seizures is defined by questions indicating ictal retrograde amnesia, often because of disorientation. Ictal anterograde amnesia is incomplete in many individuals with transient epileptic amnesia: half at least partly recall 'not being able to remember' during seizures. peter owl:Class HP:0030978 biolink:NamedThing Decreased CSF/serum albumin ratio A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. tmpxe7fu0cj_hp_relaxed.owl 2017-06-05T10:50:18Z HPO:probinson owl:Class NBO:0000011 biolink:NamedThing social behavior "A behavior that occurs predominantly or only, in individuals that are part of a group." [Wikipedia:Social_behavior] GO:0035176 tmpxe7fu0cj_hp_relaxed.owl social behaviour 2011-04-14T01:03:39Z George Gkoutos behavior_ontology owl:Class HP:0011105 biolink:NamedThing Hypervolemia An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood. tmpxe7fu0cj_hp_relaxed.owl Fluid overload in blood UMLS:C0546817|SNOMEDCT_US:21639008 peter 2011-06-07T11:17:32Z human_phenotype owl:Class HP:0025476 biolink:NamedThing Testicular lipomatosis Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 12:49:41+00:00 Testicular lipomatosis may be a sign of Cowden disease. HPO:probinson owl:Class UBERON:0006287 biolink:NamedThing radius-ulna pre-cartilage condensation A radius-ulna endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001587|EMAPA:17420|EHDAA:4178|VHOG:0000949 uberon owl:Class EMAPA has a separate radius-ulna cartilage condensation. UBERON:0015002 biolink:NamedThing radius-ulna endochondral element A radius-ulna bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl radius-ulna skeletal element|radius-ulna element uberon owl:Class UBERON:0002194 biolink:NamedThing capsule of lymph node Capsule surrounding lymph node composed of connective tissue with some plain muscle fibers. tmpxe7fu0cj_hp_relaxed.owl lymph node capsule|capsula nodi lymphoidei EMAPA:35524|UMLS:C0229699|MA:0000739|NCIT:C33028|FMA:74604 Lymphknoten:(Schwein).jpg uberon owl:Class from its internal surface are given off a number of membranous processes or trabeculae, consisting, in man, of connective tissue, with a small admixture of plain muscle fibers; but in many of the lower animals composed almost entirely of involuntary muscle[WP] GO:0015833 biolink:NamedThing peptide transport The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0042886 biolink:NamedThing amide transport The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:8410016 biolink:NamedThing descending sigmoid junction The anatomical junction between the descending colon and the sigmoid colon. tmpxe7fu0cj_hp_relaxed.owl descending-sigmoid junction|descending-sigmoid colon junction|sigmoid junction http://orcid.org/0000-0002-2825-0621 uberon owl:Class UBERON:0002190 biolink:NamedThing subcutaneous adipose tissue A portion of adipose tissue that is part of the hypodermis, beneath the dermis. tmpxe7fu0cj_hp_relaxed.owl fatty layer of subcutaneous tissue|subcutaneous fat layer|panniculus adiposus|panniculus adiposus (tela subcutanea)|hypodermis fat layer|subcutaneous fat|fatty layer of superficial fascia|panniculus adiposus telae subcutaneae BTO:0004042|FMA:74315|MA:0000473|EMAPA:35829 UBERON:0008875 uberon owl:Class the superficial portion of the subcutaneous tissue which is specialized for fat storage[MP:0011156] HP:0025032 biolink:NamedThing Abnormality of digestive system physiology A functional anomaly of the digestive system. tmpxe7fu0cj_hp_relaxed.owl 2016-08-27 13:58:05+00:00 HPO:probinson owl:Class HP:0002282 biolink:NamedThing Gray matter heterotopia Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. tmpxe7fu0cj_hp_relaxed.owl Grey matter heterotopia|Gray matter heterotopias|Heterotopias|Heterotopia|Neuronal heterotopia|Grey matter heterotopias MSH:D002828|UMLS:C0008519|SNOMEDCT_US:417338002|SNOMEDCT_US:128490007|SNOMEDCT_US:416286003 Gray matter heterotopia is caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of grey matter within the white matter, and the term grey matter heterotopia is more frequently used. HP:0002281|HP:0007314 owl:Class HP:0410154 biolink:NamedThing Increased level of myristic acid in serum An increase in the level of myristic acid in the serum. tmpxe7fu0cj_hp_relaxed.owl Increased level of tetradecanoic acid in serum 2018-03-27 21:58:16+00:00 owl:Class UBERON:0003658 biolink:NamedThing hip muscle Any muscle organ that is part of a hip [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hip region muscle organ|regio coxae muscle organ|muscle organ of hip|muscle organ of regio coxae|hip muscle organ|muscle organ of hip region MA:0000657 uberon owl:Class UBERON:0034905 biolink:NamedThing gland lumen tmpxe7fu0cj_hp_relaxed.owl lumen of gland uberon owl:Class HP:0002857 biolink:NamedThing Genu valgum The legs angle inward, such that the knees are close together and the ankles far apart. tmpxe7fu0cj_hp_relaxed.owl Genua valga|Genu valgus|Knock knees|Genu valga|Knee joint valgus deformity MEDDRA:10023480|UMLS:C0576093|MSH:D056304|SNOMEDCT_US:299330008 HP:0004999 human_phenotype owl:Class HP:0002979 biolink:NamedThing Bowing of the legs A bending or abnormal curvature affecting a long bone of the leg. tmpxe7fu0cj_hp_relaxed.owl Bow legs|Bow-leggedness|Bowed legs|Bowed lower limbs UMLS:C0544755|SNOMEDCT_US:299331007|MSH:D056305 HP:0006428 human_phenotype owl:Class GO:0034763 biolink:NamedThing negative regulation of transmembrane transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. tmpxe7fu0cj_hp_relaxed.owl down-regulation of transmembrane transport|negative regulation of membrane transport|inhibition of transmembrane transport|down regulation of transmembrane transport|downregulation of transmembrane transport biological_process owl:Class HP:0002943 biolink:NamedThing Thoracic scoliosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857790 HP:0004615 human_phenotype owl:Class HP:0002650 biolink:NamedThing Scoliosis The presence of an abnormal lateral curvature of the spine. tmpxe7fu0cj_hp_relaxed.owl MSH:D013121|SNOMEDCT_US:64217002|UMLS:C0700208|UMLS:C0037932|Fyler:4160|SNOMEDCT_US:111266001 HP:0003303|HP:0003317|HP:0002770|HP:0003415 human_phenotype owl:Class CL:0000507 biolink:NamedThing endorphin secreting cell A peptide hormone secreting cell that secretes endorphin. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class UBERON:0010498 biolink:NamedThing pseudostratified columnar epithelium A simple columnar epithelium that looks stratified but is not, because its cells are arranged with their nuclei at different levels. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1514590|NCIT:C33419|Wikipedia:Pseudostratified_columnar_epithelium|FMA:45572|NCIT:C49316|UMLS:C0836138 uberon owl:Class Pseudostratified epithelia function in secretion or absorption. If a specimen looks stratified but has cilia, then it is a pseudostratified ciliated epithelium, since stratified epithelia do not have cilia. glandular in NCIT; we consider the two NCIT terms synonymous UBERON:0014542 biolink:NamedThing cervical division of cord spinal central canal Part of central canal contained within the cervical spinal cord. It is continuous caudally with the thoracic spinal cord central canal and rostrally with the fourth ventricle of the brain via the obex. tmpxe7fu0cj_hp_relaxed.owl cervical spinal cord central canal BIRNLEX:1511|UMLS:C0228620|FMA:321590 uberon owl:Class HP:0009279 biolink:NamedThing Radial deviation of the 4th finger Displacement of the 4th finger towards the radial side (i.e., towards the thumb). tmpxe7fu0cj_hp_relaxed.owl Radial deviation of the ring finger UMLS:C4024473 doelkens 2009-01-07T04:24:53Z human_phenotype owl:Class HP:0031568 biolink:NamedThing Thickened aortic valve cusp An abnormally increased thickness of a leaflet of the aortic valve. tmpxe7fu0cj_hp_relaxed.owl 2017-09-29 23:18:10+00:00 Fyler:1486 peter owl:Class HP:0031567 biolink:NamedThing Abnormal aortic valve cusp morphology Any structural anomaly of the aortic valve leaflets. tmpxe7fu0cj_hp_relaxed.owl 2017-09-29 23:13:33+00:00 Fyler:1480 peter owl:Class HP:0008489 biolink:NamedThing Spondylolisthesis at L5-S1 Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1). tmpxe7fu0cj_hp_relaxed.owl Spondylolysis and spondylolisthesis of l5 UMLS:C3275799 HP:0005779 human_phenotype owl:Class HP:0003302 biolink:NamedThing Spondylolisthesis Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. tmpxe7fu0cj_hp_relaxed.owl Displacement of one backbone compared to another|Slipped backbone|Spondylolithesis MSH:D013168|UMLS:C0038016|SNOMEDCT_US:274152003 human_phenotype owl:Class HP:0010880 biolink:NamedThing Increased nuchal translucency The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023676 Increased nuchal translucency may be related to a cystic hygroma or to mesenchymal edema. Increased nuchal translucency can be classified into three categories: 1) cardiac abnormalities, combined with abnormal ductus venosus flow velocities, is found, leading to the theory that cardiac failure causes nuchal translucency enlargement; 2) various types of abnormalities are found in the extracellular matrix of the nuchal skin of fetuses with increased nuchal translucency; 3) abnormal lymphatic development is demonstrated in fetuses with increased nuchal translucency. peter 2010-09-13T08:15:19Z owl:Class HP:0025667 biolink:NamedThing Fetal neck anomaly A structural anomaly in the fetal neck region. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0002160 biolink:NamedThing Hyperhomocystinemia An increased concentration of homocystine in the blood. tmpxe7fu0cj_hp_relaxed.owl Homocystinemia|Elevated blood homocystine UMLS:C3806347 Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine). Hyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar. human_phenotype owl:Class HP:0010919 biolink:NamedThing Abnormal circulating homocysteine concentration An abnormality of a homocysteine metabolic process. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023651 peter 2010-12-11T11:48:52Z human_phenotype owl:Class GO:0003217 biolink:NamedThing cardiac right atrium formation The developmental process pertaining to the initial formation of a cardiac right atrium from unspecified parts. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T09:53:12Z biological_process owl:Class GO:0003210 biolink:NamedThing cardiac atrium formation The developmental process pertaining to the initial formation of a cardiac atrium from unspecified parts. A cardiac atrium receives blood from a vein and pumps it to a cardiac ventricle. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T09:44:25Z biological_process owl:Class HP:0005844 biolink:NamedThing Rounded middle phalanx of finger An abnormally round shape of the middle phalanx of the finger. tmpxe7fu0cj_hp_relaxed.owl Rounded middle bone of finger UMLS:C4025126 human_phenotype owl:Class HP:0030757 biolink:NamedThing Tooth abscess A pocket of pus located within a region of a tooth. tmpxe7fu0cj_hp_relaxed.owl Dentoalveolar abscess|Dental abscess SNOMEDCT_US:299709002|UMLS:C0518988 owl:Class GO:0045445 biolink:NamedThing myoblast differentiation The process in which a relatively unspecialized cell acquires specialized features of a myoblast. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers. tmpxe7fu0cj_hp_relaxed.owl myoblast cell differentiation biological_process owl:Class HP:0008997 biolink:NamedThing Proximal muscle weakness in upper limbs A lack of strength of the proximal muscles of the arms. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866012 human_phenotype owl:Class UBERON:0003457 biolink:NamedThing head bone A bone that is part of a head [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl head bone organ|bone organ of adult head|bone organ of head|craniofacial bone|bone of head|adult head bone organ|adult head bone|bone of adult head MA:0000576|EMAPA:35996|SCTID:118646007 Different sources vary regarding which bones are craniofacial; e.g. hyoid bone uberon owl:Class HP:0002585 biolink:NamedThing Abnormality of the peritoneum An abnormality of the peritoneum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025698 The peritoneum is the thin tissue that lines the inner wall of the abdomen and covers most of the abdominal organs. human_phenotype owl:Class HP:0009349 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 3rd finger Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of innermost long bone of the middle finger|Large epiphysis of proximal middle-finger phalanx UMLS:C4021488 doelkens 2009-01-12T11:19:03Z HP:0004171 human_phenotype owl:Class HP:0009333 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the innermost bone of the middle finger UMLS:C4024434 doelkens 2009-01-12T11:16:44Z human_phenotype owl:Class HP:0020132 biolink:NamedThing Thickening of the tubular basement membrane Increase in thickness of the basement membrane of the tubulus of the kidney. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-05 16:56:26+00:00 owl:Class HP:0020131 biolink:NamedThing Abnormal tubular basement membrane morphology Abnormal structure of the basement membrane of the renal tubulus. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-05 16:55:32+00:00 owl:Class GO:0010567 biolink:NamedThing regulation of ketone catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a ketone, carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0031329 biolink:NamedThing regulation of cellular catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl regulation of cellular degradation|regulation of cellular breakdown|regulation of cellular catabolism biological_process owl:Class GO:0048370 biolink:NamedThing lateral mesoderm formation The process that gives rise to the lateral mesoderm. This process pertains to the initial formation of the structure from unspecified parts. tmpxe7fu0cj_hp_relaxed.owl lateral plate mesoderm formation|lateral plate mesoderm biosynthesis biological_process owl:Class GO:0001707 biolink:NamedThing mesoderm formation The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CL:0000050 biolink:NamedThing megakaryocyte-erythroid progenitor cell A progenitor cell committed to the megakaryocyte and erythroid lineages. tmpxe7fu0cj_hp_relaxed.owl CFU-MegE|megakaryocyte/erythroid progenitor cell|colony forming unit erythroid megakaryocyte|megakaryocyte/erythrocyte progenitor|CFU-EM|Meg/E progenitor|MEP MEPs are reportedly CD19-negative, CD34-negative, CD45RA-negative, CD110-positive, CD117-positive, and SCA1-negative and reportedly express the transcription factors GATA-1 and NF-E2. cell owl:Class HP:0030738 biolink:NamedThing Altman type II sacrococcygeal teratoma A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280794 owl:Class HP:0030736 biolink:NamedThing Sacrococcygeal teratoma A teratoma arising in the sacro-coccygeal region. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:281561000|UMLS:C0559459 Sacrococcygeal teratomas arise from totipotent cells from the node of Hensen at the anterior aspect of the coccyx by about the 2nd to 3rd weeks of gestation, and are composed of the all three germ cells (i.e. ectoderm, mesoderm and endoderm). Sacrococcygeal teratomas are classified according to their relative extent outside and inside the body. Altman type I: entirely outside, sometimes attached to the body only by a narrow stalk; Altman type II: mostly outside; Altman type III: mostly inside; Altman type IV: entirely inside. owl:Class HP:0006270 biolink:NamedThing Hypoplastic spleen Underdevelopment of the spleen. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped spleen UMLS:C1970617 human_phenotype owl:Class HP:0010451 biolink:NamedThing Aplasia/Hypoplasia of the spleen Absence or underdevelopment of the spleen. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped spleen|Absent/small spleen UMLS:C4023823 peter 2009-09-14T10:48:29Z human_phenotype owl:Class GO:1903019 biolink:NamedThing negative regulation of glycoprotein metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of glycoprotein metabolic process. tmpxe7fu0cj_hp_relaxed.owl inhibition of glycoprotein metabolic process|down-regulation of glycoprotein metabolic process|down-regulation of glycoprotein metabolism|downregulation of glycoprotein metabolic process|negative regulation of glycoprotein metabolism|downregulation of glycoprotein metabolism|down regulation of glycoprotein metabolism|inhibition of glycoprotein metabolism|down regulation of glycoprotein metabolic process human serum amyloid P component (SAP) P02743 inhibits viral neuraminidase, NA (exo-alpha-sialidase activity) and thus the metabolism of glycoproteins, demonstrated in Figure 4A PMID:23544079, (IDA), the negative regulation term would be applied to this protein rl 2014-05-14T18:44:25Z biological_process owl:Class HP:0009252 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 4th finger A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the outermost bone of the ring finger UMLS:C4024495 doelkens 2009-01-07T12:07:34Z human_phenotype owl:Class HP:0010248 biolink:NamedThing Cone-shaped epiphyses of the distal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the outermost hand bones UMLS:C4023951 doelkens 2009-07-06T04:23:06Z human_phenotype owl:Class UBERON:0003645 biolink:NamedThing metacarpal bone of digit 1 A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 1. tmpxe7fu0cj_hp_relaxed.owl thumb metacarpal bone|metacarpal bone of first digit of hand|metacarpal of hand digit 1|forelimb digit 1 metacarpus|metacarpal bone digit 1|first digit of hand metacarpal|hand digit 1 metacarpal|metacarpal bone of hand digit 1|metacarpal bone of thumb|first digit of hand metacarpal bone|metacarpal 1|thumb metacarpal|metacarpal of thumb|metacarpal I|finger 1 metacarpus|first metacarpal bone|hand digit 1 metacarpal bone|manual digit 1 metacarpus|metacarpal bone of digit I|metacarpal of first digit of hand MA:0001364|EMAPA:19112|AAO:0010616|UMLS:C1708987|NCIT:C52796|FMA:23899 uberon owl:Class The first metacarpal bone or the metacarpal bone of the thumb is the first bone of the thumb. It is connected to the trapezium of the carpus at the first carpometacarpal joint and to the proximal thumb phalanx at the first metacarpophalangeal joint[Wikipedia:First_metacarpal_bone]. 1 UBERON:0013581 biolink:NamedThing metapodium bone 1 A metapodium bone that is part of a digit 1 plus metapodial segment. tmpxe7fu0cj_hp_relaxed.owl metapodium 1|metapodium I uberon owl:Class HP:0010542 biolink:NamedThing Vestibular nystagmus Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:46888001|UMLS:C0155379 peter 2009-09-23T10:38:28Z human_phenotype owl:Class HP:0009591 biolink:NamedThing Abnormality of the vestibulocochlear nerve Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the eighth cranial nerve|Abnormality of the VIIIth cranial nerve UMLS:C4021431 peter 2009-01-28T10:42:57Z human_phenotype owl:Class HP:0001880 biolink:NamedThing Eosinophilia Increased count of eosinophils in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood eosinophil count UMLS:C0014457|MSH:D004802 human_phenotype owl:Class HP:0001974 biolink:NamedThing Leukocytosis An abnormal increase in the number of leukocytes in the blood. tmpxe7fu0cj_hp_relaxed.owl High white blood count|Increased blood leukocyte number|Elevated white blood count MSH:D007964|UMLS:C0023518|SNOMEDCT_US:111583006 owl:Class CHEBI:48354 biolink:NamedThing polar solvent A solvent that is composed of polar molecules. Polar solvents can dissolve ionic compounds or ionisable covalent compounds. tmpxe7fu0cj_hp_relaxed.owl polar solvent|polar solvents chebi_ontology owl:Class CHEBI:46787 biolink:NamedThing solvent A liquid that can dissolve other substances (solutes) without any change in their chemical composition. tmpxe7fu0cj_hp_relaxed.owl Loesungsmittel|solvents|solvant Wikipedia:Solvent chebi_ontology owl:Class HP:0010337 biolink:NamedThing Aplasia/Hypoplasia of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Absent/small 4th toe|Absent/underdeveloped 4th toe UMLS:C4023895 doelkens 2009-07-16T11:41:21Z human_phenotype owl:Class UBERON:0005278 biolink:NamedThing nail bed of finger A nail bed that is part of a manual digit. tmpxe7fu0cj_hp_relaxed.owl nail bed of finger FMA:60348 uberon owl:Class UBERON:0005273 biolink:NamedThing nail bed Region of skin beneath the nail plate[WP]. tmpxe7fu0cj_hp_relaxed.owl nailbed MA:0002706|EV:0100158|VHOG:0001362|EMAPA:35581 uberon owl:Class GO:0002831 biolink:NamedThing regulation of response to biotic stimulus Any process that modulates the frequency, rate, or extent of a response to biotic stimulus. tmpxe7fu0cj_hp_relaxed.owl Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class HP:0500139 biolink:NamedThing Hypoprolinemia A decreased amount of proline in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood proline concentration|Decreased blood proline levels 2018-10-03 19:35:50+00:00 owl:Class HP:0010907 biolink:NamedThing Abnormal circulating proline concentration Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023661 peter 2010-12-08T07:50:08Z human_phenotype owl:Class HP:0030589 biolink:NamedThing Abnormal confrontational visual field test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073061 owl:Class HP:0007928 biolink:NamedThing Abnormal flash visual evoked potentials Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024772 human_phenotype owl:Class HP:0000649 biolink:NamedThing Abnormality of visual evoked potentials An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. tmpxe7fu0cj_hp_relaxed.owl Abnormal visual-evoked potentials|Abnormal vision evoked potentials|VEP abnormalities|Abnormal visual evoked responses|Abnormal visual evoked potential UMLS:C0522214|SNOMEDCT_US:102968003 The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent. human_phenotype owl:Class HP:0009230 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 5th finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024514 doelkens 2009-01-05T06:11:33Z human_phenotype owl:Class HP:0009855 biolink:NamedThing Osteolytic defects of the proximal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Proximal phalanges osteolysis UMLS:C1850148 doelkens 2009-03-11T12:16:33Z HP:0009867|HP:0006050 human_phenotype owl:Class CL:0002083 biolink:NamedThing type I cell of adrenal medulla A chromaffin cell of the adrenal medulla that produces norepinephrine. tmpxe7fu0cj_hp_relaxed.owl noradrenergic chromaffin cell FMA:69321 tmeehan 2010-07-14T10:12:24Z cell owl:Class CL:0000336 biolink:NamedThing adrenal medulla chromaffin cell A cell found within the adrenal medulla that secrete biogenic amine hormones upon stimulation. tmpxe7fu0cj_hp_relaxed.owl medullary chromaffin cell of adrenal gland FMA:69262 CL:1000422 cell owl:Class UBERON:0002196 biolink:NamedThing adenohypophysis The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin[ZFA]. tmpxe7fu0cj_hp_relaxed.owl pituitary gland, anterior lobe|lobus anterior hypophysis|lobus anterior|anterior hypophysis|anterior pituitary gland|anterior lobe of the pituitary|pituitary anterior lobe|cranial lobe|anterior lobe of pituitary|anterior lobe of pituitary gland|rostral lobe|AHP|anterior lobe (hypophysis)|lobus anterior (glandula pituitaria)|anterior lobe of hypophysis|anterior pituitary|pituitary glandanterior lobe NCIT:C12772|BIRNLEX:1581|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=407|FMA:74627|EMAPA:17514|EHDAA2:0000109|EFO:0000230|TAO:0001282|BAMS:APit|MA:0000177|UMLS:C1280369|MESH:A06.407.747.608|VHOG:0000141|CALOHA:TS-0794|BTO:0000040|BAMS:AHY|AAO:0010540|ZFA:0001282|BM:AHy|BAMS:AL|UMLS:C0032008 http://upload.wikimedia.org/wikipedia/commons/f/fb/Gray1181.png uberon owl:Class Region of the pituitary gland derived from the buccal protrusion consisting of three regions.[AAO]|The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mamalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish. Herzog et al, 2004.[TAO] It (the hypophysis) develops embryonically in all vertebrates from two ectodermal evaginations that meet and unite. An infundibulum grows ventrally from the diencephalon of the brain, and Rathke's pouch extends dorsally from the roof of the developing mouth, or stomodaeum. The infundibulum remains connected to the floor of the diencephalon, which becomes the hypothalamus, and gives rise to the part of the gland known as the neurohypophysis. (...) Rathke's pouch loses its connection with the stomodaeum in most adult vertebrates and gives rise to the rest of the gland, the adenohypophysis. (...) A well-developed hypophyseal system with functional connections to the hypothalamus is unique to craniates.[well established][VHOG] In contrast to mammalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish|While in most basal fish and tetrapods the adenohypophyseal anlagen invaginates to form Rathke's pouch, in teleost fish the adenohypophyseal placode does not invaginate but rather maintains its initial organization forming a solid structure in the head[NCBIBook:NBK53175]. HP:0033573 biolink:NamedThing Anti-H4 antibody positivity The presence of autoantibodies in the blood circulation that react against histone H4. tmpxe7fu0cj_hp_relaxed.owl 2021-01-24 13:56:03+00:00 peter owl:Class GO:0060084 biolink:NamedThing synaptic transmission involved in micturition The process of communication from a neuron to a smooth muscle in the bladder that contributes to the expulsion of urine from the body. tmpxe7fu0cj_hp_relaxed.owl synaptic transmission involved in urination biological_process owl:Class GO:0007274 biolink:NamedThing neuromuscular synaptic transmission The process of synaptic transmission from a neuron to a muscle, across a synapse. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:63571 biolink:NamedThing trisaccharide derivative An oligosaccharide derivative that is formally obtained from a trisaccharide. tmpxe7fu0cj_hp_relaxed.owl trisaccharide derivatives chebi_ontology owl:Class UBERON:0005212 biolink:NamedThing Leydig cell region of testis The male gonad containing two functional parts: the SEMINIFEROUS TUBULES for the production and transport of male germ cells (SPERMATOGENESIS) and the interstitial compartment containing LEYDIG CELLS that produce ANDROGENS.. tmpxe7fu0cj_hp_relaxed.owl testis - interstitial|interstitium of testis|interstitium of the testis|testis interstitial tissue|testis interstitium EMAPA:18687|MA:0002713 uberon owl:Class HP:0012526 biolink:NamedThing Absence of alpha granules A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. tmpxe7fu0cj_hp_relaxed.owl Gray platelets|Grey platelets UMLS:C4022864 peter 2013-12-15T08:57:46Z owl:Class HP:0012528 biolink:NamedThing Abnormal number of alpha granules A deviation from the normal count of alpha granules per thrombocyte. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022862 peter 2013-12-15T09:07:34Z owl:Class HP:0010333 biolink:NamedThing Flexion contracture of 3rd toe One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl Joint contractures of the 3rd toe UMLS:C4021294 doelkens 2009-07-16T11:40:52Z human_phenotype owl:Class HP:0010728 biolink:NamedThing Aplasia of the retina A developmental defect characterized by absence of the retina. tmpxe7fu0cj_hp_relaxed.owl Absent retina UMLS:C4023718 sdoelken 2010-04-20T11:09:59Z human_phenotype owl:Class HP:0020197 biolink:NamedThing Increased circulating arachidonic acid concentration An increased circulation of arachidonic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased circulating arachidonic acid level|Increased circulating arachidonate level robinp 2019-09-05 14:12:41+00:00 owl:Class HP:0010964 biolink:NamedThing Abnormal circulating long-chain fatty-acid concentration Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023624 A long-chain fatty-acid is defined as an aliphatic monocarboxylic acid with a chain length of C13 to C18. peter 2011-01-27T08:05:00Z owl:Class HP:0500182 biolink:NamedThing Hypotaurinemia A decreased amount of taurine in the blood. tmpxe7fu0cj_hp_relaxed.owl Reduced taurine levels in the blood|Decreased circulating taurine levels|Lower blood levels of taurine 2019-02-22 17:29:23+00:00 owl:Class GO:1905476 biolink:NamedThing negative regulation of protein localization to membrane Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to membrane. tmpxe7fu0cj_hp_relaxed.owl down-regulation of protein localization to membrane|downregulation of protein localization in membrane|down-regulation of protein localisation in membrane|inhibition of protein localization to membrane|down regulation of protein localisation in membrane|down-regulation of protein localization in membrane|inhibition of protein localization in membrane|negative regulation of protein localisation in membrane|down regulation of protein localization in membrane|inhibition of protein localisation in membrane|negative regulation of protein localization in membrane|downregulation of protein localization to membrane|down regulation of protein localization to membrane|downregulation of protein localisation in membrane bc 2016-09-21T16:20:10Z biological_process owl:Class GO:1903828 biolink:NamedThing negative regulation of protein localization Any process that stops, prevents or reduces the frequency, rate or extent of a protein localization. tmpxe7fu0cj_hp_relaxed.owl inhibition of cellular protein localization|negative regulation of cellular protein localisation|downregulation of cellular protein localization|down regulation of cellular protein localization|inhibition of cellular protein localisation|down-regulation of cellular protein localisation|negative regulation of cellular protein localization|down regulation of cellular protein localisation|downregulation of cellular protein localisation|down-regulation of cellular protein localization https://github.com/geneontology/go-ontology/issues/22021 jl 2015-01-20T14:32:24Z biological_process owl:Class HP:0006482 biolink:NamedThing Abnormality of dental morphology An abnormality of the morphology of the tooth. tmpxe7fu0cj_hp_relaxed.owl Misshapened teeth|Malformation of teeth|Malformed teeth|Abnormally shaped teeth|Dental malformations|Abnormality of shape of tooth|Deformity of teeth|Abnormality of dental shape|Dental deformity|Misshapen teeth UMLS:C0040427|SNOMEDCT_US:422775003|UMLS:C0262444|MSH:D014071 peter 2008-03-28T05:41:00Z HP:0000697 human_phenotype owl:Class HP:0031854 biolink:NamedThing Left Isomerism A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures. tmpxe7fu0cj_hp_relaxed.owl Left-sided isomerism 2018-05-05 18:13:50+00:00 peter owl:Class HP:0031853 biolink:NamedThing Isomerism Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 18:12:17+00:00 The word isomerism is also derived from the Greek: iso-meaning equal and meros-meaning part. Isomerism refers to structures that are themselves mirror-imaged. When used in the area of the congenitally malformed heart, the term isomerism has become the conventional description for the situation in which morphologically right structures or morphologically left structures are found on both sides of the body in the same individual. peter owl:Class HP:0003259 biolink:NamedThing Elevated circulating creatinine concentration An increased amount of creatinine in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated creatinine|Increased creatinine|Elevated serum creatinine|Increased serum creatinine|High blood creatinine level SNOMEDCT_US:166717003|UMLS:C0700225 HP:0003227 owl:Class HP:0002157 biolink:NamedThing Azotemia An increased concentration of nitrogen compounds in the blood. tmpxe7fu0cj_hp_relaxed.owl Azotaemia SNOMEDCT_US:445009001|UMLS:C0242528|MSH:D053099 Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. human_phenotype owl:Class HP:0011683 biolink:NamedThing Restrictive ventricular septal defect Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:253551005|UMLS:C0344924 This term can be used in addition to another term describing the morphology of a VSD. peter 2012-04-10T08:26:59Z human_phenotype owl:Class CL:0002170 biolink:NamedThing keratinized cell of the oral mucosa A keratinized cell located in the hard palate or gingiva. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2010-08-26T02:51:30Z cell owl:Class CL:0000237 biolink:NamedThing keratinizing barrier epithelial cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0009723 biolink:NamedThing Abnormality of the subungual region A lesion located beneath a fingernail or toenail. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024219 peter 2009-01-31T09:49:06Z owl:Class UBERON:0005720 biolink:NamedThing hindbrain venous system A venous system that is part of a hindbrain. tmpxe7fu0cj_hp_relaxed.owl rhombencephalon venous system VHOG:0001322|EHDAA2:0000776|EMAPA:18632 uberon owl:Class HP:0033878 biolink:NamedThing Arcuate vein lumen organized thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney. tmpxe7fu0cj_hp_relaxed.owl Organized thrombi within arcuate vein lumen 2021-06-23 19:31:36+00:00 peter owl:Class UBERON:0014671 biolink:NamedThing distal interphalangeal joint of manural digit 5 tmpxe7fu0cj_hp_relaxed.owl distal interphalangeal joint of manural digit V|distal interphalangeal joint of little finger FMA:35343 uberon owl:Class UBERON:0014680 biolink:NamedThing distal interphalangeal joint of digit 5 A distal interphalangeal joint that is part of a digit 5. tmpxe7fu0cj_hp_relaxed.owl distal interphalangeal joint 5|distal interphalangeal joint of digit V NCIT:C102294 uberon owl:Class HP:0100941 biolink:NamedThing Sclerosis of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the outermost bone of the 4th toe UMLS:C4021917 human_phenotype owl:Class GO:0003162 biolink:NamedThing atrioventricular node development The process whose specific outcome is the progression of the atrioventricular (AV) node over time, from its formation to the mature structure. The AV node is part of the cardiac conduction system that controls the timing of ventricle contraction by receiving electrical signals from the sinoatrial (SA) node and relaying them to the His-Purkinje system. tmpxe7fu0cj_hp_relaxed.owl AV node development dph 2009-10-01T02:05:13Z biological_process owl:Class GO:0014857 biolink:NamedThing regulation of skeletal muscle cell proliferation Any process that modulates the frequency, rate or extent of skeletal muscle cell proliferation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0032904 biolink:NamedThing Focal verbal automatism seizure A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0009585 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 2nd finger Uneven (irregular) increase in bone density of the proximal phalanx of the second finger. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in innermost index finger bone UMLS:C4024278 doelkens 2009-01-28T05:26:39Z human_phenotype owl:Class HP:0100908 biolink:NamedThing Sclerosis of the proximal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the innermost bone of the index finger UMLS:C4021934 human_phenotype owl:Class HP:0010931 biolink:NamedThing Abnormal blood sodium concentration An abnormal concentration of sodium. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating Na concentration|Abnormality of sodium homeostasis|Abnormal blood Na+ levels UMLS:C4023644 peter 2011-01-06T10:40:20Z human_phenotype owl:Class HP:0010930 biolink:NamedThing Abnormal blood monovalent inorganic cation concentration An abnormality of monovalent inorganic cation homeostasis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of monovalent inorganic cation homeostasis UMLS:C4023645 peter 2011-01-06T10:38:38Z human_phenotype owl:Class HP:0006682 biolink:NamedThing Premature ventricular contraction Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node. tmpxe7fu0cj_hp_relaxed.owl Ventricular ectopics|Ventricular premature beat|Ventricular extrasystoles|Extra heart beat|Premature ventricular beat|Premature ventricular contractions|Missed heartbeat|Skipped heartbeat UMLS:C0151636|SNOMEDCT_US:251175005|MSH:D018879|SNOMEDCT_US:17338001 A premature ventricular contraction may be perceived as a skipped beat or as palpitations. Although they may cause symptoms such as palpitations or dizziness, incidental PVCs are generally considered benign. Highly frequent PVCs, however, can have detrimental effects on the left ventricular function over time and may cause or worsen heart failure. HP:0006678 owl:Class HP:0004308 biolink:NamedThing Ventricular arrhythmia tmpxe7fu0cj_hp_relaxed.owl Ventricular arrhythmias UMLS:C0085612|SNOMEDCT_US:44103008 peter 2008-02-20T01:28:00Z human_phenotype owl:Class HP:0002490 biolink:NamedThing Increased CSF lactate Increased concentration of lactate in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Hyperlactatorachia|Increased cerebrospinal fluid lactate|Increased CSF lactic acid UMLS:C1167918 human_phenotype owl:Class HP:0030085 biolink:NamedThing Abnormal CSF lactate level Abnormal concentration of lactate in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022656 owl:Class GO:0050777 biolink:NamedThing negative regulation of immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. tmpxe7fu0cj_hp_relaxed.owl downregulation of immune response|down regulation of immune response|inhibition of immune response|down-regulation of immune response biological_process owl:Class GO:0050776 biolink:NamedThing regulation of immune response Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009244 biolink:NamedThing Distal/middle symphalangism of 5th finger Fusion of the terminal/distal and middle phalanges of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Symphalangism of the distal and middle phalanges of the 5th finger|Fused end and middle bones of pinkie finger|Fusion of the terminal and middle phalanges of the 5th finger|Fifth finger distal interphalangeal joint symphalangism|Fused end and middle bones of pinky finger|Fused end and middle bones of little finger|Symphalangism of the terminal and middle phalanges of the 5th finger UMLS:C1868573|UMLS:C4020781 doelkens 2009-01-05T07:25:50Z HP:0009176|HP:0006250 human_phenotype owl:Class HP:0001204 biolink:NamedThing Distal symphalangism of hands The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. tmpxe7fu0cj_hp_relaxed.owl Synostosis of distal phalanges|Symphalangism affecting the distal phalanges of the hand|Terminal symphalangism|Fused outermost bones of hand UMLS:C1862158 HP:0006116|HP:0006079|HP:0009841|HP:0009871 human_phenotype owl:Class HP:0001648 biolink:NamedThing Cor pulmonale Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0034072|MSH:D011660|SNOMEDCT_US:83291003|SNOMEDCT_US:274096000 Cor pulmonale refers to a change in structure and function of the right ventricle of the heart as a result of a pulmonary disorder, generally resulting in right ventricular hypertrophy. human_phenotype owl:Class HP:0001707 biolink:NamedThing Abnormal right ventricle morphology An abnormality of the right ventricle of the heart. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the right ventricle|Right ventricular abnormality SNOMEDCT_US:253516002|Fyler:1820|UMLS:C0344887 The function of the right ventricle is to receive blood from the right atrium and to eject blood into the pulmonary artery. human_phenotype owl:Class UBERON:0000092 biolink:NamedThing post-embryonic stage Stage succeeding embryo, including mature structure. tmpxe7fu0cj_hp_relaxed.owl post-hatching stage|postembryonic stage|postembryonic WBls:0000093|OGES:000014|OGES:000010|WBls:0000103|WBls:0000022|OGES:000024|BilaDO:0000003 uberon https://github.com/obophenotype/uberon/issues/344 owl:Class In birds, the postnatal stage begins when the beak penetrates the shell (i.e., external pipping) (Brown et al. 1997) HP:0006517 biolink:NamedThing Intraalveolar phospholipid accumulation Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. tmpxe7fu0cj_hp_relaxed.owl Detection of PAS-positive extracellular material in broncho-alveolar lavage|Alveolar proteinosis|Pulmonary alveolar proteinosis UMLS:C0034050|SNOMEDCT_US:10501004|MSH:D011649 The periodic acid Schiff (PAS) staining is a staining method that detects polysaccharidese and mucosubstances, for example: glycogen, glyolipids, glyoproteins and mucins. It is one of the commonly used procedures in the histophathology laboratory and is easy to perfom. It may help in discriminating different forms of interstitial lung disease (ILD), especially pulmonary alveolar proteinosis (PAP). HP:0032982 owl:Class HP:0011678 biolink:NamedThing Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023234 Major aortopulmonary collateral arteries (MACPAs) are arteries that develop to supply blood to the lungs when native pulmonary circulation is underdeveloped. That is, the blood supply to the lungs derives from the aorta rather than from the pulmonary artery. peter 2012-04-10T07:43:01Z human_phenotype owl:Class HP:0012516 biolink:NamedThing Tetralogy of Fallot with pulmonary atresia An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:253513005|UMLS:C0344882 Tetralogy of Fallot with Pulmonary Atresia (TOF/PA) is a complex lesion with many different anatomic variants. The primary source of variability in this lesion is in the anatomy of the pulmonary arteries, with the spectrum ranging from well-formed, confluent pulmonary artery branches to completely absent native pulmonary arteries and major aorto-pulmonary collaterals (MAPCA's) providing all the pulmonary blood flow. The majority of cases fall somewhere in between these two ends of the spectrum, with the total pulmonary blood flow provided by a combination of diminutive native pulmonary arteries and multiple MAPCA. peter 2013-12-08T09:44:24Z human_phenotype owl:Class HP:0003112 biolink:NamedThing Abnormal circulating amino acid concentration The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of serum amino acid levels|Abnormality of serum amino acid level UMLS:C4025653 owl:Class UBERON:0005899 biolink:NamedThing pes bone A bone that is part of the pes skeleton. tmpxe7fu0cj_hp_relaxed.owl foot bone|bone of pedal skeleton|bone of pes|bone of foor proper or tarsal skeleton|bone of foot UMLS:C0016505|MA:0000643|OpenCyc:Mx4rv5ridZwpEbGdrcN5Y29ycA|NCIT:C13068|EMAPA:35354|MESH:A02.835.232.300|GAID:192 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Skeleton-partonomy-Design-Pattern GO:0042488 biolink:NamedThing positive regulation of odontogenesis of dentin-containing tooth Any process that activates or increases the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages that are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. tmpxe7fu0cj_hp_relaxed.owl positive regulation of odontogenesis of dentine-containing tooth|upregulation of odontogenesis|stimulation of odontogenesis|activation of odontogenesis|up-regulation of odontogenesis|positive regulation of odontogenesis of dentine-containing teeth|up regulation of odontogenesis biological_process owl:Class GO:0042487 biolink:NamedThing regulation of odontogenesis of dentin-containing tooth Any process that modulates the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. tmpxe7fu0cj_hp_relaxed.owl regulation of odontogenesis of dentine-containing tooth|regulation of odontogenesis of dentine-containing teeth biological_process owl:Class HP:0032313 biolink:NamedThing Frontotemporal hypertrichosis Excessive, increased hair growth located in the region of the forehead and temple. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 11:05:15+00:00 peter owl:Class CHEBI:18085 biolink:NamedThing glycosaminoglycan Any polysaccharide containing a substantial proportion of aminomonosaccharide residues. tmpxe7fu0cj_hp_relaxed.owl glycosaminoglycan|Glykosaminoglykan|glicosaminoglicano|glycosaminoglycane|glycosaminoglycans|Glycosaminoglycan Wikipedia:Glycosaminoglycan|KEGG:C02545 CHEBI:14361|CHEBI:24398|CHEBI:5495 chebi_ontology owl:Class CHEBI:22506 biolink:NamedThing aminoglycan tmpxe7fu0cj_hp_relaxed.owl aminoglycans chebi_ontology owl:Class PATO:0001294 biolink:NamedThing radiation reflective quality tmpxe7fu0cj_hp_relaxed.owl owl:Class PATO:0001292 biolink:NamedThing full-spectrum EM radiation quality tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0005384 biolink:NamedThing nasal cavity epithelium An epithelium that lines the nasal cavity. tmpxe7fu0cj_hp_relaxed.owl nasal epithelium|nasal mucosa UMLS:C1709151|VHOG:0000501|CALOHA:TS-0656|EHDAA2:0001227|MA:0001324|EMAPA:17605|NCIT:C49261|EHDAA:6803|FMA:63140 this class may in future be split into the embryonic precursor of the oronasal membrane and the structure that is part of the mucosa in the developed organism uberon owl:Class GO:0007140 biolink:NamedThing male meiotic nuclear division tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0030631 biolink:NamedThing Hyperautofluorescent macular lesion Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073101 A large portion of hyper-autofluorescent lesions results from alterations in lipofuscin metabolism. Accumulation of lipofuscin in RPE cells, accumulation of bisretinoids in photoreceptor outer segments, and photooxidation of bisretinoids in lipofuscin can all contribute to enhanced autofluorescence. owl:Class HP:0025158 biolink:NamedThing Hyperautofluorescent retinal lesion Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 12:53:55+00:00 HPO:probinson owl:Class UBERON:0001772 biolink:NamedThing corneal epithelium The smooth stratified squamous epithelium that covers the outer surface of the cornea. tmpxe7fu0cj_hp_relaxed.owl epithelium anterius (cornea)|epithelium of cornea|epithelium corneæ anterior layer|external epithelium of cornea|e. anterius corneae|epithelium posterius corneae|cornea epithelium|endothelium corneale|anterior endothelium of cornea|cornea epithelial tissue|endothelium anterius corneae|anterior corneal epithelium|epithelium anterius corneae|endothelium camerae anterioris bulbi|epithelial tissue of cornea BTO:0000287|ZFA:0001683|CALOHA:TS-0173|EMAPA:17162|FMA:58263|UMLS:C0459875|EFO:0001917|MESH:D019573|MA:0001243|EHDAA2:0000319|Wikipedia:Corneal_epithelium|NCIT:C12928|GAID:895|SCTID:368825001|TAO:0002187 http://upload.wikimedia.org/wikipedia/commons/6/66/Gray871.png uberon owl:Class Portion of tissue comprised of four to six layers of nonkeratinized, stratified squamous cells and represents approximately 60% of the thickness of the cornea.[TAO] In zebrafish: nonpigmented, stratified squamous nonkeratinizing epithelial cells, attached to a thick basement membrane that is considered to be analogous to the Bowman's membrane in mammals|In Humans: It consists of several layers of cells. The cells of the deepest layer are columnar; then follow two or three layers of polyhedral cells, the majority of which are prickle cells similar to those found in the stratum mucosum of the cuticle. Lastly, there are three or four layers of squamous cells, with flattened nuclei GO:2000353 biolink:NamedThing positive regulation of endothelial cell apoptotic process Any process that activates or increases the frequency, rate or extent of endothelial cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of programmed cell death of endothelial cells by apoptosis|positive regulation of killing of endothelial cells|positive regulation of endothelial cell apoptosis|positive regulation of endothelial cell programmed cell death by apoptosis|positive regulation of programmed cell death, endothelial cells|positive regulation of apoptosis of endothelial cells mah 2011-02-03T10:43:23Z biological_process owl:Class GO:1904037 biolink:NamedThing positive regulation of epithelial cell apoptotic process Any process that activates or increases the frequency, rate or extent of epithelial cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl activation of epitheliocyte apoptotic process|positive regulation of epitheliocyte apoptotic process|upregulation of epithelial cell apoptosis|up-regulation of epitheliocyte apoptosis|positive regulation of epitheliocyte apoptosis|activation of epithelial cell apoptotic process|up regulation of epitheliocyte apoptotic process|positive regulation of epithelial cell apoptosis|up-regulation of epitheliocyte apoptotic process|up-regulation of epithelial cell apoptosis|up regulation of epithelial cell apoptotic process|up regulation of epithelial cell apoptosis|up-regulation of epithelial cell apoptotic process|upregulation of epithelial cell apoptotic process|activation of epithelial cell apoptosis|upregulation of epitheliocyte apoptotic process|upregulation of epitheliocyte apoptosis|activation of epitheliocyte apoptosis|up regulation of epitheliocyte apoptosis sl 2015-03-13T22:05:53Z biological_process owl:Class HP:0012680 biolink:NamedThing Abnormality of the pineal gland An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022783 peter 2014-03-22T12:46:36Z human_phenotype owl:Class UBERON:0010758 biolink:NamedThing subdivision of organism along appendicular axis A major subdivision of an organism that divides an organism along an axis perpedicular to the main body anterior-posterior axis. In vertebrates, this is typically a fin or limb segment. In insects, this includes segments of appendages such as antennae, as well as segments of the insect leg. tmpxe7fu0cj_hp_relaxed.owl appendage segment|appendicular segment FBbt:00007018 uberon owl:Class GO:0098665 biolink:NamedThing serotonin receptor complex A protein complex that is capable of serotonin receptor activity. tmpxe7fu0cj_hp_relaxed.owl 5HT receptor complex|5-hydroxytryptamine receptor complex|5-HT receptor complex dos 2016-12-21T12:24:56Z cellular_component owl:Class GO:0042246 biolink:NamedThing tissue regeneration The regrowth of lost or destroyed tissues. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class PATO:0001500 biolink:NamedThing tapered A shape quality inhering in a bearer by virtue of the bearer's being gradually narrower or thinner toward one end. tmpxe7fu0cj_hp_relaxed.owl taper quality owl:Class PATO:0001419 biolink:NamedThing sharp A shape quality inhering in a bearer by virtue of the bearer's terminating in a point or edge. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class CL:0000913 biolink:NamedThing effector memory CD8-positive, alpha-beta T cell CD8-positive, alpha-beta memory T cell with the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl effector CD8-positive, alpha-beta memory T-cell|effector memory CD8-positive, alpha-beta T-cell|effector memory CD8+ T cell|effector CD8-positive, alpha-beta memory T cell|effector CD8-positive, alpha-beta memory T lymphocyte|effector memory CD8-positive, alpha-beta T-lymphocyte|effector CD8-positive, alpha-beta memory T-lymphocyte|effector memory CD8-positive, alpha-beta T lymphocyte This cell type is compatible with the HIPC Lyoplate markers for 'effector memory CD8+ T cell', but includes additional markers known to be expressed on effector memory CD8+ T cells. cell owl:Class HP:0001993 biolink:NamedThing Ketoacidosis Acidosis resulting from accumulation of ketone bodies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0220982|SNOMEDCT_US:56051008 Ketoacidosis can result from diabetes, alcoholic ketoacidosis, prolonged fasting, as well as several hereditary diseases of metabolism. human_phenotype owl:Class HP:0003750 biolink:NamedThing Increased muscle fatiguability An abnormal, increased fatiguability of the musculature. tmpxe7fu0cj_hp_relaxed.owl Muscle fatigue SNOMEDCT_US:80449002|UMLS:C4025573|UMLS:C0242979|MSH:D018763 human_phenotype owl:Class MPATH:154 biolink:NamedThing hyperkeratosis Thickening of the surface layers (stratum corneum) in the skin or other stratified squamous epithelium. Cf. ortho- and para-keratosis. tmpxe7fu0cj_hp_relaxed.owl hyperorthokeratosis|hyperparakeratosis|cornification George Gkoutos mouse_pathology.ontology owl:Class MPATH:149 biolink:NamedThing squamous hyperplasia Benign proliferation of epidermal cells with hyperkeratosis. Variable growth pattern, regular to papillary (exophytic squamous cell hyperplasia). tmpxe7fu0cj_hp_relaxed.owl epidermal hyperplasia.|squamous cell hyperplasia George Gkoutos mouse_pathology.ontology owl:Class CL:0002625 biolink:NamedThing seminiferous tubule epithelial cell A cell of the seminiferous tubule epithelium. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-03-15T11:59:23Z cell owl:Class CL:0000068 biolink:NamedThing duct epithelial cell An epithelial cell that is part of a duct. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0030893 biolink:NamedThing Abnormal response to short acting pulmonary vasodilator Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg. tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:2001018 biolink:NamedThing negative regulation of retrograde axon cargo transport Any process that stops, prevents or reduces the frequency, rate or extent of retrograde axon cargo transport. tmpxe7fu0cj_hp_relaxed.owl negative regulation of retrograde axonal transport kmv 2011-08-11T09:44:46Z biological_process owl:Class UBERON:0006340 biolink:NamedThing fourth ventricle choroid plexus stroma A choroid plexus stroma that is part of a fourth ventricle. tmpxe7fu0cj_hp_relaxed.owl MA:0000985 uberon owl:Class UBERON:0005206 biolink:NamedThing choroid plexus stroma Stromal matrix surrounding blood vessels within the choroid plexus. tmpxe7fu0cj_hp_relaxed.owl choroid plexus stromal matrix EMAPA:36609|MA:0000825 uberon owl:Class UBERON:0001608 biolink:NamedThing dilatator pupillae A smooth muscle of the eye, running radially in the iris that functions as a dilator. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl pupil dilator muscle|pupillary dilator muscle|iris dilator muscle|iris dilator|dilator pupillae muscle|radiating fibers|pupillary dilator|musculus dilatator pupillae|pupil dilator|pupillary muscle|dilator of pupil|musculus dilator pupillae|dilator pupillae|dilator muscle of pupil|radial muscle of iris|radial muscle MA:0001288|EMAPA:35286|NCIT:C32463|BTO:0001371|UMLS:C0229190|FMA:49158 http://upload.wikimedia.org/wikipedia/commons/2/2f/Gray878.png uberon owl:Class It is innervated by the sympathetic system, which acts by releasing noradrenaline, which acts on alpha1-receptors. Thus, when presented with a threatening stimuli that activates the fight-or-flight response, this innervation dilates the iris, thus temporarily letting more light reach the retina HP:0033488 biolink:NamedThing Glomerular endocapillary leukocyte hypercellularity Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. tmpxe7fu0cj_hp_relaxed.owl Glomerular endocapillary hypercellularity consisting of leukocytes 2021-01-10 12:54:45+00:00 The optimal demonstration of leukocytes may require immunohistochemistry. peter owl:Class HP:0025363 biolink:NamedThing Glomerular endocapillary hypercellularity Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. tmpxe7fu0cj_hp_relaxed.owl Endocapillary hypercellularity 2017-02-20 13:33:20+00:00 The endocapillary compartment of the glomerulus includes the endothelial cells, mesangial cells, and any leukocytes in the capillary lumens or mesangium. HPO:probinson owl:Class UBERON:0002241 biolink:NamedThing chondrocranium Endoskeletal elements that encase the brain, nose, inner ear[cjm]. that part of the neurocranium formed by endochondral ossification and comprising the bones of the base of the skull[TFD]. tmpxe7fu0cj_hp_relaxed.owl calvarium|neurocranium VHOG:0000288|EHDAA2:0000243|ZFA:0001424|AAO:0010169|Wikipedia:Chondrocranium|EMAPA:17681|TAO:0001424 we follow the standard evolutionary classification and treat this as endoskeletal. This means what MA calls 'chondrocranium' must in fact be neurocranium, as it includes parts of the dermatocranium (e.g. frontal, parietal) uberon owl:Class Anatomical cluster that is part of the cranium and composed of cartilage and cartilage replacement bones.[TAO]|Anatomical cluster that is part of the cranium and composed of cartilage and cartilage replacement bones.[AAO] chondrocranial covers the brain dorsally in chondrichthyans HP:0030461 biolink:NamedThing Abnormal timing of flash visual evoked potentials tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072951 owl:Class GO:0045947 biolink:NamedThing negative regulation of translational initiation Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation. tmpxe7fu0cj_hp_relaxed.owl inhibition of translational initiation|downregulation of translational initiation|down regulation of translational initiation|down-regulation of translational initiation biological_process owl:Class HP:0005736 biolink:NamedThing Short tibia Underdevelopment (reduced size) of the tibia. tmpxe7fu0cj_hp_relaxed.owl Short shinbone|Shortening of the tibia|Hypoplastic tibia|Short skankbone|Hypoplasia of the tibia|Shortening of the shankbone|Short tibiae|Shortening of the shinbone UMLS:C1850259|UMLS:C1855277 HP:0006445|HP:0006436|HP:0002993 human_phenotype owl:Class HP:0011340 biolink:NamedThing Incomplete cleft of the upper lip A subtle unilateral cleft of the upper lip, which may appear as a small indentation. tmpxe7fu0cj_hp_relaxed.owl Incomplete cheiloschisis|Partial cleft of the upper lip|Notched cleft of the upper lip|Incomplete cleft of the upper lip|Forme fruste unilateral cleft lip UMLS:C4021158 peter 2012-02-26T01:55:36Z human_phenotype owl:Class HP:0010016 biolink:NamedThing Bracket epiphysis of the 1st metacarpal An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of 1st long bone of hand UMLS:C4024107 doelkens 2009-05-27T04:02:50Z human_phenotype owl:Class HP:0200050 biolink:NamedThing Bracket metacarpal epiphyses tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of long bone of hand UMLS:C4021897 koehlers human_phenotype owl:Class HP:0003473 biolink:NamedThing Fatigable weakness A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. tmpxe7fu0cj_hp_relaxed.owl Generalized muscle weakness due to defect at the neuromuscular junction|Generalised muscle weakness due to defect at the neuromuscular junction|Myasthenic weakness|Proximal muscle weakness due to defect at the neuromuscular junction|Myasthenia|Fatigable weakness of limb muscles UMLS:C0947912 This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering. HP:0100794|HP:0003428|HP:0003399 owl:Class GO:0050921 biolink:NamedThing positive regulation of chemotaxis Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. tmpxe7fu0cj_hp_relaxed.owl up-regulation of chemotaxis|activation of chemotaxis|upregulation of chemotaxis|up regulation of chemotaxis|stimulation of chemotaxis biological_process owl:Class HP:0006710 biolink:NamedThing Aplasia/Hypoplasia of the clavicles Absence or underdevelopment of the clavicles (collar bones). tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped collarbone|Absent/small collarbone UMLS:C4024993 peter 2008-03-29T03:53:00Z owl:Class HP:0003978 biolink:NamedThing Fractured radius tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:12676007|MSH:D011885|UMLS:C0034628 human_phenotype owl:Class HP:0003961 biolink:NamedThing Fractured forearm bones Bone fracture in the radius, ulna, or wrist. tmpxe7fu0cj_hp_relaxed.owl Broken forearm|Fractured forearm bones|Fracture of the forearm UMLS:C4025477 human_phenotype owl:Class GO:0060986 biolink:NamedThing endocrine hormone secretion The regulated release of a hormone into the circulatory system. tmpxe7fu0cj_hp_relaxed.owl dph 2010-01-11T09:03:48Z biological_process owl:Class HP:0100458 biolink:NamedThing Osteolytic defects of the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Osteolytic defects of the outermost bone of the 3rd toe UMLS:C4022069 human_phenotype owl:Class HP:5000013 biolink:NamedThing Anti-GFAP antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP). tmpxe7fu0cj_hp_relaxed.owl Anti-glial fibrillary acidic protein antibody ORCID:0000-0002-3387-1836 owl:Class HP:0005692 biolink:NamedThing Joint hyperflexibility Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles. tmpxe7fu0cj_hp_relaxed.owl Joints move beyond expected range of motion UMLS:C3553764 human_phenotype owl:Class HP:0012047 biolink:NamedThing Hemeralopia A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. tmpxe7fu0cj_hp_relaxed.owl Day blindness SNOMEDCT_US:399323001|MSH:D014786|UMLS:C0018975 peter 2012-08-01T12:26:28Z owl:Class HP:0000504 biolink:NamedThing Abnormality of vision Abnormality of eyesight (visual perception). tmpxe7fu0cj_hp_relaxed.owl Vision issue|Abnormality of vision|Abnormality of sight UMLS:C4025846 human_phenotype owl:Class CHEBI:26020 biolink:NamedThing phosphate Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom. tmpxe7fu0cj_hp_relaxed.owl phosphates chebi_ontology owl:Class HP:0100748 biolink:NamedThing Muscular edema tmpxe7fu0cj_hp_relaxed.owl Muscular oedema UMLS:C4021979 doelkens 2011-06-06T06:31:20Z human_phenotype owl:Class UBERON:0010234 biolink:NamedThing palatopharyngeus muscle The palatopharyngeus or palatopharyngeal or pharyngopalatinus muscle is a long, fleshy fasciculus, narrower in the middle than at either end, forming, with the mucous membrane covering its surface, the palatopharyngeal arch. tmpxe7fu0cj_hp_relaxed.owl pharyngopalatinus|musculus palatopharyngeus|palatopharyngeus|pharyngopalatinus muscle|palatopharyngeal muscle FMA:46666 http://upload.wikimedia.org/wikipedia/commons/1/1b/Musculuspalatopharyngeus.png uberon owl:Class Palatopharyngeus is a muscle that attaches to the palatine bones, soft palate, and pharynx and is innervated by Cranial Nerve X via the pharyngeal plexus.[FEED] It is separated from the palatoglossus muscle by an angular interval, in which the palatine tonsil is lodged. It arises from the soft palate, where it is divided into two fasciculi by the levator veli palatini and musculus uvulae HP:0004581 biolink:NamedThing Increased anterior vertebral height tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866732 human_phenotype owl:Class HP:0004570 biolink:NamedThing Increased vertebral height Increased top to bottom height of vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl Tall vertebral bodies UMLS:C1864853 HP:0005693 human_phenotype owl:Class HP:0001788 biolink:NamedThing Premature rupture of membranes Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:237266003|MSH:D005322|SNOMEDCT_US:44223004|UMLS:C0015944 HP:0002163 human_phenotype owl:Class CHEBI:26836 biolink:NamedThing sulfuric acid A sulfur oxoacid that consists of two oxo and two hydroxy groups joined covalently to a central sulfur atom. tmpxe7fu0cj_hp_relaxed.owl hydrogen tetraoxosulfate(VI)|sulfuric acid|[SO2(OH)2]|Sulfuric acid|dihydroxidodioxidosulfur|Acide sulfurique|tetraoxosulfuric acid|Acido sulfurico|sulphuric acid|H2SO4|dihydrogen tetraoxosulfate|hydrogen tetraoxosulfate(2-)|[S(OH)2O2]|Acidum sulfuricum|Schwefelsaeureloesungen 0 H2O4S InChI=1S/H2O4S/c1-5(2,3)4/h(H2,1,2,3,4) QAOWNCQODCNURD-UHFFFAOYSA-N 98.07948 97.96738 [H]OS(=O)(=O)O[H] PMID:22435616|PMID:22047659|Wikipedia:Sulfuric_acid|PMID:19397353|CAS:7664-93-9|Gmelin:2122|PMID:22296037|PMID:16122922|PMID:22267186|PMID:22136045|PMID:13568755|PMID:22364556|Reaxys:2037554|KNApSAcK:C00007530|PPDB:606|KEGG:C00059|KEGG:D05963|MolBase:4|PMID:22204399 chebi_ontology owl:Class CHEBI:33402 biolink:NamedThing sulfur oxoacid tmpxe7fu0cj_hp_relaxed.owl oxoacids of sulfur|sulfur oxoacids chebi_ontology owl:Class HP:0410314 biolink:NamedThing Decreased urinary 1-methylhistidine Decreased concentration of 1-methylhistidine in the urine. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0410313 biolink:NamedThing Abnormal urinary 1-methylhistidine concentration Abnormal concentration of 1-methylhistidine in the urine. tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0001885 biolink:NamedThing dentate gyrus of hippocampal formation Part of the hippocampal formation forming a 'V' or 'U' shaped structure with the opening bounded by hippocampal area CA3. It consists of 3 layers from superficial to deep: molecular, granule cell and polymorphic or hilar layer. tmpxe7fu0cj_hp_relaxed.owl dentate area (dentate gyrus)|fascia dentata|dentate gyrus|hippocampal dentate gyrus|dentate area|area dentata|gyrus dentatus EMAPA:19037|BAMS:DG|DMBA:16115|GAID:624|CALOHA:TS-2388|BTO:0002496|HBA:12891|BTO:0002615|UMLS:C0152314|BIRNLEX:1178|NCIT:C32452|FMA:61922|MA:0000190|MESH:A08.186.211.577.405.200|MBA:726|EFO:0001366|DHBA:10295|BM:Tel-DG BTO says dentate gyrus = fascia dentata + hilus. Note that GO classifies dentate gyrus development under hippocampus development http://upload.wikimedia.org/wikipedia/commons/a/ab/HippocampalRegions.jpg uberon owl:Class The dentate gyrus is one of two interlocking gyri of the hippocampus. It contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus[GO][GO:0021542]. UBERON:0004861 biolink:NamedThing right lung alveolus An alveolus that is part of a right lung [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl alveolus of right lung EMAPA:35997|NCIT:C49278|UMLS:C1709959|MA:0001786 uberon owl:Class GO:0046541 biolink:NamedThing saliva secretion The regulated release of saliva from the salivary glands. In man, the saliva is a turbid and slightly viscous fluid, generally of an alkaline reaction, and is secreted by the parotid, submaxillary, and sublingual glands. In the mouth the saliva is mixed with the secretion from the buccal glands. In man and many animals, saliva is an important digestive fluid on account of the presence of the peculiar enzyme, ptyalin. tmpxe7fu0cj_hp_relaxed.owl salivation Wikipedia:Salivation biological_process owl:Class UBERON:0001016 biolink:NamedThing nervous system The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior [CUMBO]. tmpxe7fu0cj_hp_relaxed.owl neurological system|nerve net|systema nervosum CALOHA:TS-1313|UMLS:C0027763|FMA:7157|OpenCyc:Mx4rvViT_pwpEbGdrcN5Y29ycA|GAID:466|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=3236|WBbt:0005735|EV:0100162|MAT:0000026|MIAA:0000026|EMAPA:16469|Wikipedia:Nervous_system|VHOG:0000402|XAO:0000177|NCIT:C12755|EFO:0000802|MESH:D009420|TAO:0000396|AAO:0000324|SCTID:278196006|FBbt:00005093|ZFA:0000396|BIRNLEX:844|EHDAA2:0001246|MA:0000016|BTO:0001484|BILA:0000079|EHDAA:826 http://upload.wikimedia.org/wikipedia/commons/b/b2/TE-Nervous_system_diagram.svg|http://upload.wikimedia.org/wikipedia/commons/b/ba/Nervous_system_diagram.png uberon owl:Class A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS). (Source: BioGlossary, www.Biology-Text.com)[TAO]|Anatomical system consisting of nerve bodies and nerve fibers which regulate the response of the body to external and internal stimuli.[AAO] Nervous systems evolved in the ancestor of Eumetazoa.[well established][VHOG] nervous|neural CHEBI:53368 biolink:NamedThing ionic macromolecule A macromolecule containing ionic groups. tmpxe7fu0cj_hp_relaxed.owl polyionic macromolecule|ionic polymer chebi_ontology owl:Class CHEBI:33839 biolink:NamedThing macromolecule A macromolecule is a molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpxe7fu0cj_hp_relaxed.owl polymers|macromolecule|polymer|macromolecules|polymer molecule Wikipedia:Macromolecule chebi_ontology owl:Class CHEBI:60164 biolink:NamedThing ionic polymer An ionic polymer is a polymer, composed of ionic macromolecules. tmpxe7fu0cj_hp_relaxed.owl polyionic polymer chebi_ontology owl:Class CHEBI:60027 biolink:NamedThing polymer A polymer is a mixture, which is composed of macromolecules of different kinds and which may be differentiated by composition, length, degree of branching etc.. tmpxe7fu0cj_hp_relaxed.owl Polymer|Kunststoff Wikipedia:Polymer chebi_ontology owl:Class HP:0033652 biolink:NamedThing Broncholith A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis tmpxe7fu0cj_hp_relaxed.owl 2021-02-24 12:58:44+00:00 See Figure 15 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0033253 biolink:NamedThing Reduced circulating interferon gamma A reduction in the concentration of interferon gamma measured in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-11-27 19:24:26+00:00 peter owl:Class HP:0040030 biolink:NamedThing Chorioretinal hypopigmentation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022483 HPO:skoehler owl:Class GO:0016331 biolink:NamedThing morphogenesis of embryonic epithelium The process in which the anatomical structures of embryonic epithelia are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:2001151 biolink:NamedThing regulation of renal water transport tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0098801 biolink:NamedThing regulation of renal system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025037 biolink:NamedThing Hypothalamic gliosis Focal proliferation of glial cells in the hypothalamus. tmpxe7fu0cj_hp_relaxed.owl 2016-09-20 10:59:06+00:00 HPO:probinson owl:Class CHEBI:78123 biolink:NamedThing fatty acid anion 16:0 Any saturated fatty acid anion containing 16 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl fatty acid 16:0 -1 C16H31O2 255.41610 255.23241 [O-]C([*])=O chebi_ontology owl:Class UBERON:0007135 biolink:NamedThing neural keel An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. tmpxe7fu0cj_hp_relaxed.owl presumptive central nervous system EFO:0003497|TAO:0000131|ZFA:0000131 uberon owl:Class An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. Kimmel et al, 1995.[TAO] GO:1905214 biolink:NamedThing regulation of RNA binding Any process that modulates the frequency, rate or extent of RNA binding. tmpxe7fu0cj_hp_relaxed.owl bf 2016-06-06T10:20:56Z biological_process owl:Class HP:0002454 biolink:NamedThing Eye of the tiger anomaly of globus pallidus The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025705 This sign is observed upon magnetic resonance tomography (MRI). It can be seen in several diseases including Hallervorden-Spatz syndrome, where the pathophysiology has been hypothesized to be related to iron deposition in the globus pallidus (associated with low signal intensity on T2-weighted images) accompanied by other pathological processes such as gliosis and water accumulation that are responsible for the high signal intensity at the central globus pallidus. human_phenotype owl:Class HP:0004446 biolink:NamedThing Stomatocytosis The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. tmpxe7fu0cj_hp_relaxed.owl Red cell stomatocytosis|erythrocyte stomatocytes UMLS:C0677598 peter 2008-03-18T10:05:00Z HP:0004801 human_phenotype owl:Class HP:0100223 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the middle bone of the little toe|Triangular end part of the middle bone of the pinky toe|Triangular end part of the middle bone of the pinkie toe UMLS:C4022198 doelkens 2010-06-24T05:04:00Z human_phenotype owl:Class UBERON:0003303 biolink:NamedThing roof plate of medulla oblongata A roof plate that is part of a medulla oblongata [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl metepencephalon roof plate|roof plate of metepencephalon|roof plate of bulb|roof plate medulla oblongata|metepencephalon roofplate|medulla oblonmgata roof plate|roofplate of metepencephalon|medulla oblongata roof plate|bulb roofplate|medulla oblonmgata roofplate|roofplate of medulla oblongata|bulb roof plate|roof plate of medulla oblonmgata|medulla oblongata roofplate|roofplate medulla oblongata|roofplate of medulla oblonmgata|roofplate of bulb EHDAA:7614|VHOG:0000776|EHDAA2:0001099 uberon owl:Class Roof plate that is part of the medulla oblongata. [Bgee_curator][VHOG] HP:0033245 biolink:NamedThing Abnormal alveolar type II pneumocyte morphology Any structural abnormality of alveolar type 2 (ATII) cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal type II pneumocyte morphology|Abnormal pulmonary type II cell morphology|Abnormal alveolar epithelial type II cell morphology 2020-11-25 11:37:19+00:00 Alveolar type 1 (ATI) and type 2 (ATII) cells are specialized epithelial cells of the distal lung. ATI cells are flattened squamous cells that cover around 95% of the alveolar surface and lie adjacent to capillary endothelial cells to form the pulmonary gas exchange region. ATII cells have a compact morphology and cover the remaining 5% of the alveolar surface. The ultrastructural hallmark of ATII cells is the expression of lamellar bodies containing dipalmitoylphosphatidyl choline, the major lipid component of pulmonary surfactant that reduces surface tension in the alveoli to prevent collapse of the lungs at the end of expiration. ATII cells play an important role in innate immune responses within the lung with evidence that lung surfactant proteins have anti-microbial effects and reduce inflammation caused by the inhalation of irritants. peter owl:Class GO:2000792 biolink:NamedThing positive regulation of mesenchymal cell proliferation involved in lung development Any process that activates or increases the frequency, rate or extent of mesenchymal cell proliferation involved in lung development. tmpxe7fu0cj_hp_relaxed.owl pr 2011-06-24T01:53:56Z biological_process owl:Class GO:0002053 biolink:NamedThing positive regulation of mesenchymal cell proliferation The process of activating or increasing the rate or extent of mesenchymal cell proliferation. Mesenchymal cells are loosely organized embryonic cells. tmpxe7fu0cj_hp_relaxed.owl activation of mesenchymal cell proliferation|up regulation of mesenchymal cell proliferation|up-regulation of mesenchymal cell proliferation|stimulation of mesenchymal cell proliferation|upregulation of mesenchymal cell proliferation biological_process owl:Class HP:0025227 biolink:NamedThing Triggered by excitement Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled. tmpxe7fu0cj_hp_relaxed.owl Triggered by excitement|Triggered by startle|Excitement triggered symptoms 2016-12-10 14:28:21+00:00 HPO:probinson owl:Class HP:0009037 biolink:NamedThing Segmental spinal muscular atrophy tmpxe7fu0cj_hp_relaxed.owl MSH:C566670|UMLS:C1866774 human_phenotype owl:Class HP:0007269 biolink:NamedThing Spinal muscular atrophy Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. tmpxe7fu0cj_hp_relaxed.owl Spinal muscle degeneration|Spinal muscle wasting UMLS:C0026847|SNOMEDCT_US:5262007|MSH:D009134 human_phenotype owl:Class GO:0048741 biolink:NamedThing skeletal muscle fiber development The process whose specific outcome is the progression of the skeletal muscle fiber over time, from its formation to the mature structure. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast. tmpxe7fu0cj_hp_relaxed.owl skeletal myofibre development|skeletal myofiber development|skeletal muscle fibre development biological_process owl:Class GO:0014904 biolink:NamedThing myotube cell development The process aimed at the progression of a myotube cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0042483 biolink:NamedThing negative regulation of odontogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of a tooth or teeth. tmpxe7fu0cj_hp_relaxed.owl down regulation of odontogenesis|negative regulation of odontogenesis of calcareous or chitinous tooth|downregulation of odontogenesis|inhibition of odontogenesis|negative regulation of tooth development|down-regulation of odontogenesis GO:0042486 biological_process owl:Class GO:0042481 biolink:NamedThing regulation of odontogenesis Any process that modulates the frequency, rate or extent of the formation and development of a tooth or teeth. tmpxe7fu0cj_hp_relaxed.owl regulation of odontogenesis of calcareous or chitinous tooth|regulation of tooth development GO:0042484 biological_process owl:Class HP:0031803 biolink:NamedThing Fundus hemorrhage Bleeding within the fundus of the eye. tmpxe7fu0cj_hp_relaxed.owl Fundus haemorrhage 2018-03-07 15:30:14+00:00 peter owl:Class UBERON:0011997 biolink:NamedThing coelom The aggregate of the coelemic cavity lumen plus the membranes that line the lumen. tmpxe7fu0cj_hp_relaxed.owl haemocoelom|coelomic cavity|enterocoelom|schizocoelom|coelem EHDAA2:0004731|Wikipedia:Coelom EHDAA2 distingsuishes between the lumen, the lining, and the 'coelomic cavity', which despire it's name, is not a space - it is the aggregate of space plus lining. uberon owl:Class coelomic CHEBI:35195 biolink:NamedThing surfactant A substance which lowers the surface tension of the medium in which it is dissolved, and/or the interfacial tension with other phases, and, accordingly, is positively adsorbed at the liquid/vapour and/or at other interfaces. tmpxe7fu0cj_hp_relaxed.owl surfactant|surface active agent|surfactants chebi_ontology owl:Class CHEBI:63046 biolink:NamedThing emulsifier The chemical role played by a substance that stabilizes an emulsion by increasing its kinetic stability. tmpxe7fu0cj_hp_relaxed.owl emulgents|emulsifiers|emulgent chebi_ontology owl:Class CL:0002139 biolink:NamedThing endothelial cell of vascular tree An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels. tmpxe7fu0cj_hp_relaxed.owl vascular endothelial cell|cubodial endothelial cell of vascular tree FMA:67755|BTO:0001854|CALOHA:TS-1106 These cells are reportedly CD31-positive, CD34-positive, CD144-positive, TAL1-positive. tmeehan 2010-08-24T02:06:40Z cell owl:Class HP:0005534 biolink:NamedThing Transient myeloproliferative syndrome A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts. tmpxe7fu0cj_hp_relaxed.owl Transient leukaemia of Down syndrome|Transient leukemia of Down syndrome|TMD|Transient myeloproliferative disorder MSH:C563551|SNOMEDCT_US:450934005|UMLS:C1834582 human_phenotype owl:Class UBERON:0005496 biolink:NamedThing neural tube lateral wall Portion of tissue on the side of the lumen of the neural tube. tmpxe7fu0cj_hp_relaxed.owl lateral wall neural tube ZFA:0001435|EHDAA2:0001257|EMAPA:16166|EHDAA:2873|TAO:0001435|VHOG:0000513|EHDAA:912 uberon owl:Class UBERON:1000023 biolink:NamedThing spleen pulp The parenchyma of the spleen, consisting of lymphocytes and macrophages. It lies between the splenic trabecula. Red pulp is the part suffused with blood and white pulp consists of areas of lymphatic tissue where there are sleeves of lymphocytes and macrophages. tmpxe7fu0cj_hp_relaxed.owl splenic pulp|pulp of spleen|Malpighian corpuscles FMA:15845|UMLS:C0229691|MA:0002487|NCIT:C33603|EMAPA:35805 uberon owl:Class HP:0000219 biolink:NamedThing Thin upper lip vermilion Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). tmpxe7fu0cj_hp_relaxed.owl Thin red part of the upper lip|Thin upper lips|Thin vermilion border of upper lip|Decreased volume of upper lip vermilion|Thin upper lip|Decreased height of upper lip vermilion|Decreased volume of upper lip UMLS:C1865017 Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. HP:0200062|HP:0200086 human_phenotype owl:Class HP:0000233 biolink:NamedThing Thin vermilion border Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). tmpxe7fu0cj_hp_relaxed.owl Decreased volume of lip|Thin vermillion|Thin lips|Thin vermilion borders|Decreased volume of lip vermillion SNOMEDCT_US:301348000|UMLS:C0578038 The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. HP:0000213 owl:Class HP:0010799 biolink:NamedThing Pinealoma A neoplasm of the pineal gland. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3328|SNOMEDCT_US:47598005|MSH:D010871|UMLS:C0031941|SNOMEDCT_US:127026004|SNOMEDCT_US:359619007 peter 2010-06-25T09:27:58Z human_phenotype owl:Class HP:0000696 biolink:NamedThing Delayed eruption of permanent teeth Delayed tooth eruption affecting the secondary dentition. tmpxe7fu0cj_hp_relaxed.owl Delayed eruption of adult teeth|Delayed eruption of secondary dentition|Delayed eruption of permanent teeth|Delayed eruption of secondary teeth|Delayed permanent dentition UMLS:C1849540 owl:Class HP:0000684 biolink:NamedThing Delayed eruption of teeth Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. tmpxe7fu0cj_hp_relaxed.owl Delayed teeth eruption|Delayed tooth eruption|Delayed eruption of teeth|Delayed dental development|Late tooth eruption|Eruption, delayed|Delayed eruption|Delayed dental eruption|Late eruption of teeth SNOMEDCT_US:5639000|UMLS:C0239174 This term should not be used in a patient with Gingival overgrowth. Eruption is defined by the appearance of a tooth that has pierced the oral mucosa. There are established norms for the timing of eruption in both deciduous and permanent teeth. Eruption delay may affect either the deciduous teeth, permanent teeth, or both. The absence of shedding of deciduous teeth may be seen in association with delayed permanent tooth eruption or agenesis of successional permanent teeth. The diagnosis eruption delayed requires clinical and radiographic examinations. HP:0006294|HP:0006314|HP:0000686|HP:0006328 owl:Class GO:0002762 biolink:NamedThing negative regulation of myeloid leukocyte differentiation Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl downregulation of myeloid leukocyte differentiation|down-regulation of myeloid leukocyte differentiation|inhibition of myeloid leukocyte differentiation|down regulation of myeloid leukocyte differentiation biological_process owl:Class UBERON:0010219 biolink:NamedThing thyroid pre-cartilage condensation tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004088 uberon owl:Class HP:0410180 biolink:NamedThing Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. tmpxe7fu0cj_hp_relaxed.owl Abnormal glucose-6-phosphate dehydrogenase level in DBS|Abnormal G6PD level in dried blood spot 2018-05-21 17:57:23+00:00 owl:Class HP:0032719 biolink:NamedThing Focal impaired awareness motor seizure with dysarthria/anarthria A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal motor impaired awareness seizure with dysarthria/anarthria peter owl:Class HP:0032720 biolink:NamedThing Focal motor seizure with dysarthria/anarthria A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class NCBITaxon:3398 biolink:NamedThing Magnoliopsida tmpxe7fu0cj_hp_relaxed.owl Magnoliophyta|Angiospermae|angiosperms|flowering plants PMID:25249442|GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003723 biolink:NamedThing vestibular nerve The vestibular nerve is one of the two branches of the Vestibulocochlear nerve (the cochlear nerve being the other). It goes to the semicircular canals via the vestibular ganglion. It receives positional information. Axons of the vestibular nerve synapse in the vestibular nucleus on the lateral floor and wall of the fourth ventricle in the pons and medulla. It arises from bipolar cells in the vestibular ganglion, ganglion of Scarpa, which is situated in the upper part of the outer end of the internal auditory meatus. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl vestibulocochlear nerve vestibular root|scarpa ganglion|nervus vestibularis|vestibular root of eighth cranial nerve|scarpa's ganglion|vestibular root of acoustic nerve|scarpas ganglion|vestibulocochlear VIII nerve vestibular component EHDAA2:0002200|FMA:53401|EMAPA:17803|MA:0001111|NCIT:C12820|MESH:D014725|BAMS:vVIIIn|UMLS:C0042598|GAID:840|DHBA:12869|MBA:413|OpenCyc:Mx4rvxAWX5wpEbGdrcN5Y29ycA|VHOG:0001181|EHDAA:3749 http://upload.wikimedia.org/wikipedia/commons/6/65/Vestibular_system%27s_semicircular_canal-_a_cross-section.jpg uberon owl:Class HP:0005988 biolink:NamedThing Congenital muscular torticollis A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. tmpxe7fu0cj_hp_relaxed.owl Torticollis, congenital UMLS:C0079352|MSH:C535425|SNOMEDCT_US:268240006 Congenital muscular torticollis is thought to result from injury to the sternocleidomastoid muscle during birth trauma, resulting in fibrosis and unilateral shortening of the sternocleidomastoid muscle. Congenital muscular torticollis is thus etiologically and phenotypically distinct from spasmodic torticollis. human_phenotype owl:Class HP:5000037 biolink:NamedThing Anti-Yo antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo. tmpxe7fu0cj_hp_relaxed.owl Anti-Purkinje cell cytoplasmic antibody 1 ORCID:0000-0002-3387-1836 owl:Class HP:0004768 biolink:NamedThing Sparse anterior scalp hair Decreased number of head hairs per unit area on the anterior region of the scalp. tmpxe7fu0cj_hp_relaxed.owl Sparse scalp hair at front of head|Thin scalp hair at front of head UMLS:C1866246 owl:Class UBERON:0010091 biolink:NamedThing future hindbrain meninx A multi-tissue structure that has the potential to develop into a meninx of hindbrain. tmpxe7fu0cj_hp_relaxed.owl future hindbrain meninges EHDAA2:0000610 uberon owl:Class UBERON:0007645 biolink:NamedThing future meninx A developing mesenchymal capsule that covers the developing brain and spinal cord and is the precursor of the meningeal cluster. In mammals this gives rise to the arachnoid mater, pia mater and dura mater. In cyclostomes and fishes, the future meninx gives rise to a single meningeal layer, the primitive meninx. tmpxe7fu0cj_hp_relaxed.owl meninx primitiva|primitive meninx|primary meninx|primordial meninx EHDAA2:0004453 decide whether to treat the endo and ecto meninx as subtypes or parts of the future meninx UBERON:0004065 uberon owl:Class the outermost mesenchymal covering of the developing brain and spinal cord that is composed of tough fibrous connective tissue from which the arachnoid mater, pia mater and dura mater are formed[MP:0009726]d GO:0061037 biolink:NamedThing negative regulation of cartilage development Any process that decreases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpxe7fu0cj_hp_relaxed.owl dph 2010-02-09T03:41:35Z biological_process owl:Class UBERON:0009210 biolink:NamedThing pharyngeal membrane A thin fold of ectoderm and endoderm that separates the pharyngeal pouches from the pharyngeal clefts in a developing embryo. tmpxe7fu0cj_hp_relaxed.owl pharyngeal membrane|branchial membrane|branchial arch membrane UMLS:C1519040|NCIT:C34251|EMAPA:32749|FMA:295758 each membrane is initially composed of an inner layer formed by the endodermal lining of a branchial pouch and an outer layer formed by the ectodermal lining of the branchial groove; later, these two layers become separated by a thin layer of mesoderm; only the first branchial membrane contributes to the formation of an adult structure, i.e. the tympanic membrane (aka eardrum); the second, third, and fourth membranes are obliterated[MP] uberon owl:Class In all vertebrates, the endodermal epithelium lining each pouch contacts the surface ectoderm of the clefts to form a series of bilayered branchial membranes, that break down in fish to form the gill openings.[well established][VHOG] HP:0009707 biolink:NamedThing Synostosis involving the 4th metacarpal tmpxe7fu0cj_hp_relaxed.owl Fusion involving the 4th long bone of hand UMLS:C4024226 doelkens 2009-01-30T04:32:03Z human_phenotype owl:Class HP:0009701 biolink:NamedThing Metacarpal synostosis Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx). tmpxe7fu0cj_hp_relaxed.owl Fused long bones of hand|Synostosis involving the metacarpal bones|Synostosis involving metacarpal bones UMLS:C4021398 doelkens 2009-01-30T04:13:07Z HP:0006041|HP:0005915 human_phenotype owl:Class UBERON:0010702 biolink:NamedThing digit mesenchyme Mesenchyme of the digit region. tmpxe7fu0cj_hp_relaxed.owl digital ray NCIT:C34141|EMAPA:32719 uberon owl:Class UBERON:0009749 biolink:NamedThing limb mesenchyme The primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells. tmpxe7fu0cj_hp_relaxed.owl limb mesoderm EMAPA:32705 uberon owl:Class EMAPA mapping from TH HP:0012687 biolink:NamedThing Agenesis of pineal gland Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3553078 peter 2014-03-22T01:13:13Z owl:Class GO:0005881 biolink:NamedThing cytoplasmic microtubule Any microtubule in the cytoplasm of a cell. tmpxe7fu0cj_hp_relaxed.owl non-spindle-associated astral microtubule cellular_component owl:Class GO:0005874 biolink:NamedThing microtubule Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. tmpxe7fu0cj_hp_relaxed.owl microtubuli|microtubulus|neurotubule NIF_Subcellular:sao1846835077|Wikipedia:Microtubule cellular_component owl:Class GO:0000228 biolink:NamedThing nuclear chromosome A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. tmpxe7fu0cj_hp_relaxed.owl nuclear interphase chromosome cellular_component owl:Class GO:0005694 biolink:NamedThing chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. tmpxe7fu0cj_hp_relaxed.owl prophase chromosome|interphase chromosome|chromatid Wikipedia:Chromosome Chromosomes include parts that are not part of the chromatin. Examples include the kinetochore. cellular_component owl:Class CL:0002132 biolink:NamedThing stromal cell of ovary A stomal cell of the ovary tmpxe7fu0cj_hp_relaxed.owl ovarian stromal cell FMA:72299 tmeehan 2010-08-23T12:10:31Z cell owl:Class CL:0000499 biolink:NamedThing stromal cell A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere. tmpxe7fu0cj_hp_relaxed.owl FMA:83624|BTO:0002064 cell owl:Class GO:0060688 biolink:NamedThing regulation of morphogenesis of a branching structure Any process that modulates the rate, frequency, or extent of branching morphogenesis, the process in which the anatomical structures of branches are generated and organized. tmpxe7fu0cj_hp_relaxed.owl dph 2009-06-05T12:41:44Z biological_process owl:Class HP:3000038 biolink:NamedThing Abnormal cricoid cartilage morphology Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cricoid cartilage UMLS:C4073246 vasilevs 2015-08-07T00:36:11Z human_phenotype owl:Class HP:0032546 biolink:NamedThing Abdominal guarding A voluntary contraction of the abdominal wall musculature to avoid pain. tmpxe7fu0cj_hp_relaxed.owl 2019-06-12 10:33:12+00:00 Abdominal guarding tends to be generalized over the entire abdomen. In contrast to abdominal rigidity, guarding can often be overcome by having the patient purposely relax the muscles; rigidity cannot be. peter owl:Class HP:0006483 biolink:NamedThing Abnormal number of teeth The presence of an altered number of of teeth. tmpxe7fu0cj_hp_relaxed.owl Abnormal tooth count|Abnormal complement of teeth|Abnormal number of teeth UMLS:C1290508|SNOMEDCT_US:335443002 Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth. peter 2008-03-28T05:44:00Z human_phenotype owl:Class HP:0034157 biolink:NamedThing Anti-beta-2-Glycoprotein I IgM antibody positivity Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome. tmpxe7fu0cj_hp_relaxed.owl Anti-beta2GPI IgM antibody positivity 2021-12-23 14:26:33+00:00 peter owl:Class HP:0032376 biolink:NamedThing Anti-beta 2 glycoprotein I antibody positivity Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS). tmpxe7fu0cj_hp_relaxed.owl Anti-B2GPI positivity 2019-02-24 13:47:12+00:00 Beta2GPI was identified as a primary target of autoantibodies in patients with APS. Beta2GPI is a single-chain protein containing five repeating sequences or domains. Domain V is essential for binding to anionic phospholipid membranes, whereas domain I sticks out into the extracellular space where interactions with other proteins/antibodies can take place 1. peter owl:Class UBERON:0004765 biolink:NamedThing skeletal element Organ consisting of skeletal tissue. Encompasses whole bones, fused bones, cartilaginious elements, teeth, dermal denticles. tmpxe7fu0cj_hp_relaxed.owl AAO:0011129|galen:SkeletalStructure|VSAO:0000128|TAO:0001890|ZFA:0005494|XAO:0004012 uberon owl:Class Organ entity that may have different tissue compositions at different stages and is typically involved in mechanical support.[TAO]|Organ entity that is typically involved in mechanical support and may have different skeletal tissue compositions at different stages.[VSAO] GO:0002536 biolink:NamedThing respiratory burst involved in inflammatory response A phase of elevated metabolic activity, during which oxygen consumption increases following a stimulus as part of an inflammatory response; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, resulting in an increase in their intracellular or extracellular levels. tmpxe7fu0cj_hp_relaxed.owl production of reactive oxygen species during acute inflammatory response|oxidative burst during acute inflammatory response|respiratory burst involved in acute inflammatory response biological_process owl:Class GO:0045730 biolink:NamedThing respiratory burst A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. tmpxe7fu0cj_hp_relaxed.owl oxidative burst|metabolic burst Wikipedia:Respiratory_burst biological_process owl:Class GO:0050820 biolink:NamedThing positive regulation of coagulation Any process that activates or increases the frequency, rate or extent of coagulation. tmpxe7fu0cj_hp_relaxed.owl stimulation of coagulation|up-regulation of coagulation|upregulation of coagulation|positive regulation of clotting|up regulation of coagulation|activation of coagulation biological_process owl:Class GO:0014040 biolink:NamedThing positive regulation of Schwann cell differentiation Any process that activates or increases the frequency, rate or extent of Schwann cell differentiation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of Schwann cell differentiation|upregulation of Schwann cell differentiation|stimulation of Schwann cell differentiation|up regulation of Schwann cell differentiation|activation of Schwann cell differentiation biological_process owl:Class GO:0014038 biolink:NamedThing regulation of Schwann cell differentiation Any process that modulates the frequency, rate or extent of Schwann cell differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:24612 biolink:NamedThing homocystines A non-proteinogenic alpha-amino acid obtained by oxidative dimerisation of homocysteine and its derivatives. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class UBERON:0005660 biolink:NamedThing 2nd arch ectoderm An ectoderm that is part of a pharyngeal arch 2. tmpxe7fu0cj_hp_relaxed.owl 2nd pharyngeal arch ectoderm RETIRED_EHDAA2:0000064|EHDAA2:0000055|EMAPA:16397|EMAPA:16277|EMAPA:16398|VHOG:0001062 uberon owl:Class In all vertebrates, the pharyngeal apparatus develops from a series of bulges found on the lateral surface of the head, the pharyngeal arches, which consist of a number of different embryonic cell types. Each arch has an external covering of ectoderm and inner covering of endoderm, and between these a mesenchymal filling of neural crest with a central core of mesoderm.[well established][VHOG] UBERON:0000924 biolink:NamedThing ectoderm Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue. tmpxe7fu0cj_hp_relaxed.owl embryonic ectoderm XAO:0000001|AAO:0000137|TAO:0000016|UMLS:C0013574|GAID:1304|EHDAA2:0000428|SCTID:362851007|EMAPA:16069|MAT:0000155|MESH:A16.254.425.273|CALOHA:TS-0216|Wikipedia:Ectoderm|BILA:0000036|EV:0100003|EFO:0000414|BTO:0000315|MIAA:0000173|NCIT:C12703|VHOG:0000153|MAT:0000173|FMA:69070|FBbt:00000111|ZFA:0000016 http://upload.wikimedia.org/wikipedia/commons/1/19/Gray32.png uberon owl:Class Primary germ layer that is the outer of the embryonic germ layers and gives rise to epidermis and neural tissue.[AAO] The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG] ectodermal HP:0100244 biolink:NamedThing Fibrosarcoma A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:443250000|UMLS:C0016057|SNOMEDCT_US:53654007|MSH:D005354|NCIT:C6605 doelkens 2010-07-08T10:55:40Z human_phenotype owl:Class HP:0030448 biolink:NamedThing Soft tissue sarcoma A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues. tmpxe7fu0cj_hp_relaxed.owl Soft tissue sarcomas UMLS:C1261473|MSH:D012509|SNOMEDCT_US:2424003|SNOMEDCT_US:269469005|SNOMEDCT_US:424952003|SNOMEDCT_US:424413001 Soft tissue sarcomas can be found in any part of the body but most often originate in the arms or legs. They can also be found in the trunk, head and neck area, internal organs, and in the retroperitoneum. owl:Class CL:0000030 biolink:NamedThing glioblast tmpxe7fu0cj_hp_relaxed.owl FBbt:00005145 cell owl:Class HP:0031875 biolink:NamedThing Abnormal hepcidin level Any deviation from the normal concentration of hepcidin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2018-05-06 14:11:07+00:00 Hepcidin, a 25-amino acid peptide exclusively synthesized by the liver, is the main iron regulatory hormone. peter owl:Class HP:0012061 biolink:NamedThing Urinary excretion of sialylated oligosaccharides Excretion of oligosaccharides conjugated to sialic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urinary sialyloligosaccharides UMLS:C2673302 hecht 2012-08-04T02:14:44Z human_phenotype owl:Class HP:0010471 biolink:NamedThing Oligosacchariduria Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023815 peter 2009-09-15T09:48:34Z human_phenotype owl:Class HP:0002270 biolink:NamedThing Abnormality of the autonomic nervous system An abnormality of the autonomic nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025714 The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness. human_phenotype owl:Class HP:0410008 biolink:NamedThing Abnormality of the peripheral nervous system Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the peripheral nervous system UMLS:C4073187 owl:Class UBERON:0013703 biolink:NamedThing integumentary projection Anatomical projection that is part of the integumentl system. tmpxe7fu0cj_hp_relaxed.owl skin projection uberon owl:Class UBERON:0005611 biolink:NamedThing inner canthus A corner of the medial (inner) part of an eye. tmpxe7fu0cj_hp_relaxed.owl medial palpebral commissure|inner canthi|medial canthus|nasal canthus|medial canthus of eye EMAPA:17830|UMLS:C1708516|VHOG:0000829|MA:0001262|FMA:59316|NCIT:C49564|EHDAA2:0000829 uberon owl:Class The angle at the end of the palpebral fissure, the slit between the eyelids, close to the nose. [ISBN:0124020607, p.263][VHOG] PR:000001869 biolink:NamedThing interleukin-7 receptor subunit alpha A protein that is a translation product of the human IL7R gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl IL-7 receptor subunit alpha|IL7R|CDw127|IL-7R-alpha|IL-7R subunit alpha|IL-7RA|CD127 IUPHARobj:1698|PIRSF:PIRSF001960 Category=gene. Requested by=CL. protein owl:Class GO:0001508 biolink:NamedThing action potential A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. tmpxe7fu0cj_hp_relaxed.owl Action potentials typically propagate across excitable membranes. This class covers both action potentials that propagate and those that fail to do so. biological_process owl:Class GO:0042391 biolink:NamedThing regulation of membrane potential Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:4000011 biolink:NamedThing History of congenital HPV infection A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 12:58:58+00:00 robinp owl:Class HP:0033623 biolink:NamedThing Birth history Information about the delivery and health status at birth typically elicited as a part of the past medical history. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 23:06:26+00:00 peter owl:Class MPATH:31 biolink:NamedThing emphysema Abnormal accumulation of air in the interstitial connective tissue of a structure. Sensu Lung: Pulmonary emphysema; characterised by abnormal increase in the size of air (alveolar) spaces distal to the terminal bronchiole with degenerative changes in their walls and reduction in their number. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class MPATH:25 biolink:NamedThing tissue specific degenerative process Degenerative process characteristic of a particular tissue. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0011855 biolink:NamedThing Pharyngeal edema Abnormal accumulation of fluid leading to swelling of the pharynx. tmpxe7fu0cj_hp_relaxed.owl Pharyngeal oedema|Swollen throat|Throat swelling SNOMEDCT_US:2129002|UMLS:C0236024 hecht 2012-05-21T11:02:52Z human_phenotype owl:Class UBERON:0006670 biolink:NamedThing central tendon of diaphragm The three-lobed cloverleaf-shaped aponeurosis situated at the center of the diaphragm; the central tendon is fused with the fibrous pericardium that provides attachment for the muscle fibers. tmpxe7fu0cj_hp_relaxed.owl centrum tendineum diaphragmatis|central tendon|centrum tendineum EMAPA:17702|SCTID:244943002|UMLS:C0230162|Wikipedia:Central_tendon_of_diaphragm|FMA:58279|NCIT:C34119|VHOG:0001399 uberon owl:Class In mammals, the diaphragm muscle divides the thoracoabdominal cavity into thorax and abdomen. In most mammals, the diaphragm is a flat sheet with muscle fibers radiating outward from a central tendon, and the diaphragm's apposition to the cranial surface of the liver gives it a dome-shape. Muscle fiber contraction reduces the curvature of the dome, thereby expanding the thoracic cavity and aspirating air into the lungs.[well established][VHOG] HP:0031210 biolink:NamedThing Abnormal circulating hyaluronic acid concentration A deviation from the normal concentration of hyaluronic acid in the blood. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 11:00:02+00:00 Serum hyaluronic acid (HA) is considered to be a marker of liver function. HA is a glycosaminoglycan that is rapidly cleared from the circulation by the liver via receptor mediated endocytosis into sinusoidal endothelial cells. peter owl:Class HP:0011012 biolink:NamedThing Abnormal circulating polysaccharide concentration A deviation from the normal concentration of a polysaccharide in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023600 peter 2011-02-21T09:46:11Z human_phenotype owl:Class UBERON:0001221 biolink:NamedThing transversus abdominis muscle The lateral abdominal wall muscle that is deep to the internal oblique. tmpxe7fu0cj_hp_relaxed.owl musculus transversus abdominis|transversalis|transversus abdominus|transversus abdominis|transverse abdominal muscle|transverse abdominis|transverse abdominal|transversalis muscle|transversus abdominus muscle|transversis abdominus|transverse abdominus|transversus MA:0002396|EHDAA2:0002078|EHDAA:8254|EMAPA:18165|UMLS:C0224378|NCIT:C53179|FMA:15570|VHOG:0000845 http://upload.wikimedia.org/wikipedia/commons/3/32/Illu_trunk_muscles.jpg uberon owl:Class One of a pair of transverse abdominal muscles that is the anterolateral muscle of the abdomen, lying immediately under the internal abdominal oblique. [TFD][VHOG] Behind the thorax, the lateral group (of muscles in reptiles and mammals) remains essentially as for amphibians. (It breaks into three sheet-like layers: external oblique muscle, the internal oblique, and the transversus). More anteriorly, however, the ribs, now enlarged, penetrate and alter this group of muscles. The transversus is excluded from the thorax and the external and internal obliques become, respectively, the external and internal intercostal muscles, which contribute to the new function of ventilation of the lungs.[well established][VHOG] UBERON:0002461 biolink:NamedThing anterior abdominal wall muscle Any skeletal muscle organ that is part of a anterior abdominal wall. Examples: the obliques, pyramidalis and transversus abdominus. tmpxe7fu0cj_hp_relaxed.owl muscle of anterior abdominal wall|ventral abdominal wall muscle EHDAA2:0000125|EMAPA:17744|UMLS:C1744565|MA:0002268|EMAPA:17745|FMA:20278|NCIT:C52890 uberon owl:Class HP:0200133 biolink:NamedThing Lumbosacral meningocele tmpxe7fu0cj_hp_relaxed.owl UMLS:C2675557 sebastiankohler 2013-06-11T03:59:35Z human_phenotype owl:Class HP:0100712 biolink:NamedThing Abnormal lumbar spine morphology Any structural abnormality of the lumbar vertebral column. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the lumbar spine UMLS:C4021988 doelkens 2011-05-05T09:37:33Z owl:Class HP:0007559 biolink:NamedThing Localized epidermolytic hyperkeratosis tmpxe7fu0cj_hp_relaxed.owl Localised epidermolytic hyperkeratosis UMLS:C1721006|MSH:D053546 human_phenotype owl:Class HP:0008064 biolink:NamedThing Ichthyosis An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. tmpxe7fu0cj_hp_relaxed.owl Hypertrophic ichthyosis|Ichthyosiform abnormality of the skin|Ichthyotic skin MEDDRA:10021198|MSH:D007057|UMLS:C0020757 The ichthyoses are a group of skin diseases characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. The abnormality in ichthyosis lies in am imbalance in the normal lifecycle of skin in which growth is matched with dying and shedding of skin cells. In ichthyosis, skin cells reproduce at a rate faster than dead skin cells can be shed or reproduce at a normal rate with a reduction in the rate of shedding. Either abnormality leads to a build up of dry and scaly skin. Note that this term refers to the morphological abnormality of the skin and not the disorder. peter 2008-04-02T03:41:00Z HP:0007547|HP:0000955 human_phenotype owl:Class HP:0010899 biolink:NamedThing Abnormal circulating aspartate family amino acid concentration Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023667 peter 2010-12-02T04:40:57Z human_phenotype owl:Class UBERON:0034724 biolink:NamedThing esophageal taste bud A taste bud that is located in the esophagus. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0011517 biolink:NamedThing Cone monochromacy The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023318 There are three differing forms of cone monochromacy, named according to the residual functioning cone class, (1) blue cone (S-cone) monochromacy, green cone (M-cone) monochromacy, and red cone (L-cone) monochromacy. peter 2012-04-06T06:40:33Z human_phenotype owl:Class HP:0007803 biolink:NamedThing Monochromacy Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. tmpxe7fu0cj_hp_relaxed.owl Total colorblindness|Complete achromatopsia UMLS:C1857618|UMLS:C0152200|MSH:C536128|SNOMEDCT_US:56852002|MSH:D003117 Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of grey. HP:0007954 owl:Class HP:0008635 biolink:NamedThing Hypertrophy of the urinary bladder Abnormal enlargement of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl Hypertrophic urinary bladder UMLS:C4021531 human_phenotype owl:Class UBERON:0007242 biolink:NamedThing tunica intima of vein A tunica intima that is part of a vein. tmpxe7fu0cj_hp_relaxed.owl venous intima|tunica interna (intima)(venae) SCTID:2436009|EMAPA:36308|FMA:14353|EV:0100032 uberon owl:Class HP:0001639 biolink:NamedThing Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. tmpxe7fu0cj_hp_relaxed.owl Enlarged and thickened heart muscle|HCM|Cardiomyopathy, hypertrophic UMLS:C0007194|SNOMEDCT_US:233873004|SNOMEDCT_US:45227007|MSH:D002312 owl:Class UBERON:0001821 biolink:NamedThing sebaceous gland A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]. tmpxe7fu0cj_hp_relaxed.owl glandula sebaceae|sebaceous follicle|glandula sebacea FMA:59160|EV:0100161|MA:0002565|BTO:0001980|MESH:D012627|GAID:900|VHOG:0001468|CALOHA:TS-2384|NCIT:C33519|UMLS:C0036505|EMAPA:35754 sebaceous glands are also found in glabrous areas of eyelids, nose, penis, labia minora and nipples, and do not always secrete into hair follices. This causes some confusion in classification. In addition some structures, such as preputial glands are sometimes called 'modified' sebaceous glands, implying a non-subclass relationship. we follow MP and MA in keeping this class generic and creating a distinct subclass for sebaceuous glands of the skin. The FMA class may be better placed under this subclass. http://upload.wikimedia.org/wikipedia/commons/4/49/HairFollicle.png uberon owl:Class Any of the numerous holocrine glands in the dermis that empty into a hair follicle and produce and secrete sebum. [TFD][VHOG] Sebaceous glands are also limited to mammals.[well established][VHOG] UBERON:0007771 biolink:NamedThing epidermis gland A gland that is part of a epidermis. tmpxe7fu0cj_hp_relaxed.owl gland of epidermis|epidermal gland FMA:59153 uberon owl:Class NCBITaxon:4930 biolink:NamedThing Saccharomyces tmpxe7fu0cj_hp_relaxed.owl Pachytichospora GC_ID:1 NCBITaxon:36915 ncbi_taxonomy owl:Class NCBITaxon:4893 biolink:NamedThing Saccharomycetaceae tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 NCBITaxon:221665|NCBITaxon:44280 ncbi_taxonomy owl:Class CHEBI:36853 biolink:NamedThing hydroxy seco-steroid tmpxe7fu0cj_hp_relaxed.owl hydroxy seco-steroids chebi_ontology owl:Class UBERON:0001943 biolink:NamedThing midbrain tegmentum Ventral part of the midbrain, separated from the hindbrain by the isthmus[ISBN:0471888893]. Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle[FMA] The part of the midbrain extending from the substantia nigra to the cerebral aqueduct in a horizontal section of the midbrain. It forms the floor of the midbrain that surrounds the cerebral aqueduct[WP]. tmpxe7fu0cj_hp_relaxed.owl tegmentum mesencephalicum|MTg|tegmentum of midbrain|tegmentum|tegmentum mesencephali|mesencephalic tegmentum EMAPA:18215|XAO:0004271|SCTID:362392007|EHDAA2:0004475|FMA:62393|MA:0000212|Wikipedia:Midbrain_tegmentum|MAT:0000452|TAO:0000160|ZFA:0000160|EFO:0000921|DHBA:12195|BTO:0003388|BAMS:MTg|VHOG:0001367|BIRNLEX:1200|UMLS:C0039441|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=491|HBA:9002 'tegmentum' is used generically for the ventral part of the brainstem (ISBN:0471888893). We use the label 'midbrain tegmentum' to denote the midbrain structure. In NIFSTD tegmentum is a composite structure and there is a separate class for midbrain tegmentum and pontine tegmentum http://upload.wikimedia.org/wikipedia/commons/b/b6/Gray712.png uberon owl:Class Together, our results reveal a shared basic organization in the tegmental domains of the diencephalon and midbrain of developing lamprey, indicating early appearance of the domain in vertebrate phylogeny.[well established][VHOG] HP:0004296 biolink:NamedThing Abnormality of gastrointestinal vasculature tmpxe7fu0cj_hp_relaxed.owl Abnormality of GI vasculature|Abnormality of GI blood vessels UMLS:C4025361 peter 2008-02-20T11:24:00Z human_phenotype owl:Class GO:0032107 biolink:NamedThing regulation of response to nutrient levels Any process that modulates the frequency, rate or extent of a response to nutrient levels. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1901201 biolink:NamedThing regulation of extracellular matrix assembly Any process that modulates the frequency, rate or extent of extracellular matrix assembly. tmpxe7fu0cj_hp_relaxed.owl rl 2012-07-27T04:04:00Z biological_process owl:Class HP:0002574 biolink:NamedThing Episodic abdominal pain An intermittent form of abdominal pain. tmpxe7fu0cj_hp_relaxed.owl Intermittent abdominal pain UMLS:C0262527|UMLS:C3808022 human_phenotype owl:Class GO:0110150 biolink:NamedThing negative regulation of biomineralization Any process that stops, prevents, or reduces the frequency, rate or extent of biomineralization, the formation and deposition of mineral crystals by living organisms. tmpxe7fu0cj_hp_relaxed.owl negative regulation of biomineralisation|negative regulation of mineralization|negative regulation of mineralisation|negative regulation of biomineral formation kmv 2019-06-10T18:12:24Z biological_process owl:Class UBERON:0009205 biolink:NamedThing lateral nasal process mesenchyme Mesenchyme that is part of a lateral nasal prominence. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of latero-nasal process EHDAA2:0000917|FMA:312665|EMAPA:16807 uberon owl:Class HP:0009167 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 5th finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the outermost bone of pinkie finger|Irregular end part of the outermost bone of pinky finger|Irregular end part of the outermost bone of little finger UMLS:C4024561 peter 2008-12-29T02:18:06Z human_phenotype owl:Class HP:0009387 biolink:NamedThing Irregular epiphyses of the 5th finger Irregular radiographic opacity of the epiphyses of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the little finger bones|Irregular end part of the pinkie finger bones|Irregular end part of the pinky finger bones UMLS:C4024402 doelkens 2009-01-13T01:19:03Z human_phenotype owl:Class GO:0007406 biolink:NamedThing negative regulation of neuroblast proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of the proliferation of neuroblasts. tmpxe7fu0cj_hp_relaxed.owl suppression of neuroblast proliferation|inhibition of neuroblast proliferation|down-regulation of neuroblast proliferation|downregulation of neuroblast proliferation|down regulation of neuroblast proliferation biological_process owl:Class UBERON:0001635 biolink:NamedThing superior cerebellar artery The superior cerebellar artery (SCA) arises near the termination of the basilar artery. It passes lateralward, immediately below the oculomotor nerve, which separates it from the posterior cerebral artery, winds around the cerebral peduncle, close to the trochlear nerve, and, arriving at the upper surface of the cerebellum, divides into branches which ramify in the pia mater and anastomose with those of the inferior cerebellar arteries. Several branches are given to the pineal body, the anterior medullary velum, and the tela chorioidea of the third ventricle. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl arteria superior cerebelli FMA:50573|NCIT:C33669|MA:0001934|UMLS:C0149575|EHDAA2:0000681|EMAPA:19309 http://upload.wikimedia.org/wikipedia/commons/e/e1/CerebellumArteries.jpg uberon owl:Class UBERON:0035489 biolink:NamedThing branch of basilar artery tmpxe7fu0cj_hp_relaxed.owl basilar arterial branch NCIT:C32195|FMA:76269 uberon owl:Class HP:0009215 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 4th finger An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the middle bone of the ring finger UMLS:C4024526 doelkens 2009-01-05T05:23:59Z human_phenotype owl:Class GO:1905808 biolink:NamedThing positive regulation of synapse pruning Any process that activates or increases the frequency, rate or extent of synapse pruning. tmpxe7fu0cj_hp_relaxed.owl regulation of synapse clearance|upregulation of synapse disassembly|regulation of synapse elimination|regulation of synapse removal|up-regulation of synapse disassembly|activation of synapse disassembly|up regulation of synapse disassembly|regulation of synapse disassembly tb 2017-01-11T22:03:33Z biological_process owl:Class HP:0001717 biolink:NamedThing Coronary artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:445512009|UMLS:C1611184 owl:Class HP:0003207 biolink:NamedThing Arterial calcification Pathological deposition of calcium salts in one or more arteries. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1168153 Most individuals aged over 60 years have progressively enlarging deposits of calcium mineral in their major arteries. This vascular calcification reduces aortic and arterial elastance, which impairs cardiovascular hemodynamics, resulting in substantial morbidity and mortality in the form of hypertension, aortic stenosis, cardiac hypertrophy, myocardial and lower-limb ischemia, congestive heart failure, and compromised structural integrity.The severity and extent of mineralization reflect atherosclerotic plaque burden and strongly and independently predict cardiovascular morbidity and mortality. (From PMID:18519861). peter 2008-03-26T04:05:00Z HP:0012455 owl:Class HP:0001276 biolink:NamedThing Hypertonia A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. tmpxe7fu0cj_hp_relaxed.owl Increased muscle tone|Muscle hypertonia|Spasticity and rigidity of muscles|Hypertonicity MSH:D009122|SNOMEDCT_US:56731001|UMLS:C0026826|SNOMEDCT_US:41581000 Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. HP:0002388 human_phenotype owl:Class HP:0003808 biolink:NamedThing Abnormal muscle tone tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle tone UMLS:C0852413 human_phenotype owl:Class GO:0030218 biolink:NamedThing erythrocyte differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. tmpxe7fu0cj_hp_relaxed.owl red blood cell differentiation|erythrocyte cell differentiation|RBC differentiation|erythropoiesis Wikipedia:Erythropoiesis biological_process owl:Class NCBITaxon:32561 biolink:NamedThing Sauria tmpxe7fu0cj_hp_relaxed.owl diapsids|Diapsida GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:8457 biolink:NamedThing Sauropsida tmpxe7fu0cj_hp_relaxed.owl sauropsids GC_ID:1 ncbi_taxonomy owl:Class GO:0045604 biolink:NamedThing regulation of epidermal cell differentiation Any process that modulates the frequency, rate or extent of epidermal cell differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of hypodermal cell differentiation biological_process owl:Class GO:0060271 biolink:NamedThing cilium assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. tmpxe7fu0cj_hp_relaxed.owl cilium organization|cilium biogenesis|cilium formation|ciliogenesis|microtubule-based flagellum assembly|cilium morphogenesis Reactome:R-HSA-5617833.2 Note that we deem cilium and microtubule-based flagellum to be equivalent. GO:0042384 biological_process owl:Class GO:0120031 biolink:NamedThing plasma membrane bounded cell projection assembly Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. tmpxe7fu0cj_hp_relaxed.owl eupodium https://github.com/geneontology/go-ontology/issues/13298 krc 2017-04-24T23:56:08Z biological_process owl:Class HP:0012290 biolink:NamedThing Mouth neoplasm A tumor (abnormal growth of tissue) of the mouth. tmpxe7fu0cj_hp_relaxed.owl Lesion of mouth|Neoplasm of the mouth|Mouth tumor|Mouth tumour SNOMEDCT_US:235075007|MSH:D009062|SNOMEDCT_US:126797001|NCIT:C3262|UMLS:C0026640 peter 2013-04-11T05:48:12Z human_phenotype owl:Class HP:0100913 biolink:NamedThing Sclerosis of the proximal phalanx of the thumb An elevation of bone density in the proximal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the innermost bone of the thumb UMLS:C4021929 human_phenotype owl:Class HP:0100922 biolink:NamedThing Sclerosis of thumb phalanx tmpxe7fu0cj_hp_relaxed.owl Increased bone density in thumb bone|Sclerosis of the phalanges of the thumb UMLS:C4020933 human_phenotype owl:Class HP:0004746 biolink:NamedThing Glomerular subendothelial electron-dense deposits Electron dense deposits at the glomerular basement membrane, tmpxe7fu0cj_hp_relaxed.owl Membranoproliferative glomerulonephritis type II|Dense deposit disease UMLS:C0268743|SNOMEDCT_US:59479006|MSH:D015432 Subendothelial electron-dense deposits are a characteristc feature of dense-deposit disease. owl:Class HP:0030949 biolink:NamedThing Glomerular deposits An abnormal accumulation of protein in the glomerulus. tmpxe7fu0cj_hp_relaxed.owl 2017-01-13 21:44:36+00:00 robinp owl:Class UBERON:0008460 biolink:NamedThing prezygapophysis of thoracic vertebra A prezygapophysis that is part of a thoracic vertebra. tmpxe7fu0cj_hp_relaxed.owl superior articular process of thoracic vertebra|superior zygapophysis|superior apophyseal process|processus articularis (zygapophysis) thoracicus superior|cranial articular process of thoracic vertebra FMA:9155 uberon owl:Class UBERON:0001079 biolink:NamedThing prezygapophysis Paired processes at the cephalic end of the neural arch. The articular facets of the prezygapophyses face dorsomedially and articulate with the lateroventrally facing facets of the postzygapophyses of the preceding vertebra. tmpxe7fu0cj_hp_relaxed.owl processus articularis superior vertebrae|vertebra cranial articular process|processus articularis superior|neural prezygopophyses|neural prezygapophyses|cranial articular process of vertebra|prezygapophysis|superior articular process of vertebra|neural prezygapophysis|zygapophysis superior MA:0001452|ZFA:0001325|TAO:0001325|AAO:0000703|EMAPA:37802|FMA:11953 TODO - add distinct classes for hemal vs neural? uberon owl:Class Paired, anteromedially directed processes from the neural arches, ligamentously joined to the postzygapophyses of the preceding vertebra.[TAO] HP:0009210 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 5th finger A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024530 doelkens 2009-01-05T05:22:18Z human_phenotype owl:Class HP:0009389 biolink:NamedThing Pseudoepiphyses of the 5th finger A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024400 doelkens 2009-01-13T01:19:03Z human_phenotype owl:Class UBERON:0003277 biolink:NamedThing skeleton of upper jaw A subdivision of the skeleton that corresponds to the upper part of the mouth. The lower jaw skeleton includes the following elements, when present: upper jaw teeth, the maxilla and other lower jaw bones. tmpxe7fu0cj_hp_relaxed.owl upper jaw|upper jaw skeleton EHDAA2:0002128|EMAPA:17927|FMA:54397|XAO:0003087|AAO:0000622|MA:0001908|VHOG:0000429|EHDAA:8041 uberon owl:Class The jaw joint of all jawed vertebrates, except for mammals, involves the quadrate and articular bones, or the posterior ends of the palatoquadrate and mandibular cartilages; A correlate of the conversion of the articular and quadrate bones to the malleus and incus is that all adult mammals have a jaw joint that lies between the dentary of the lower jaw and the squamosal bone of the skull roof.[well established][VHOG] EMAPA/MA placement unclear. See https://github.com/obophenotype/mouse-anatomy-ontology/issues/102 UBERON:0006585 biolink:NamedThing vestibular organ An organ that is part of a vestibular system. tmpxe7fu0cj_hp_relaxed.owl balance organ UMLS:C0682674|BIRNLEX:2519 uberon owl:Class UBERON:0001503 biolink:NamedThing dorsal interosseous of manus The dorsal interossei of the hand are muscles that occupy the space between the metacarpals. There are four dorsal interossei in each hand. They are specified as 'dorsal' to contrast them with the palmar interossei, which are located on the anterior side of the metacarpals. The dorsal interosseous muscles are bipennate, with each muscle arising by two heads from the adjacent sides of the metacarpal bones, but more extensively from the metacarpal bone of the finger into which the muscle is inserted. They are inserted into the bases of the proximal phalanges and into the extensor expansion of the corresponding extensor digitorum tendon. The middle digit has two dorsal interossei insert onto it while the first digit (thumb) and the fifth digit (little finger) have none[WP]. tmpxe7fu0cj_hp_relaxed.owl dorsal manus interosseous muscle|dorsal interosseous muscle of hand|musculi interossei dorsales manus|dorsal hand interosseus muscle|dorsal interosseous of hand EMAPA:37519|NCIT:C52703|FMA:37418|MA:0002314|UMLS:C1744530 Action: abducts medial digits uberon owl:Class UBERON:0001502 biolink:NamedThing interosseous muscle of manus Any of the interosseous muscles of the manus (hand). This includes the dorsal and plantar interossei. tmpxe7fu0cj_hp_relaxed.owl hand interosseous muscle|interosseous muscle of hand|manus interosseous muscle EMAPA:36216|NCIT:C53173|MA:0002313|UMLS:C0224295|FMA:37417 uberon owl:Class The interosseous muscles are flexor muscles of the manus that help support and flex the metacarpophalangeal joints. In some species the muscles are known as the suspensory ligaments. The muscles are found under the deep digital flexor tendon and originate from the base of each metacarpal bone. From its origin each muscle runs a short way down until it divides into two tendons that continue down and insert onto the base of its corresponding proximal phalanx. Each tendon has a sesamoid imbedded within it, that lie over the metacarpophalangeal joint. A small tendon, sometimes known as an extensor branch, continues to proceed from the base of each proximal phalanx and connects to the common extensor tendon. It has a small role to play in the extension of each phalanx. The main innervation of this muscle is via a branch of the ulnaris nerve[MURDOCH:1022]. UBERON:0001730 biolink:NamedThing extrinsic ligament of larynx tmpxe7fu0cj_hp_relaxed.owl laryngeal extrinsic ligament FMA:54921|EMAPA:37627|MA:0001756 uberon owl:Class HP:0009254 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 4th finger Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of the outermost bone of the ring finger UMLS:C4024493 doelkens 2009-01-07T12:07:34Z human_phenotype owl:Class HP:0033634 biolink:NamedThing Increased alveolar volume An abnormal elevation in alveolar volume. tmpxe7fu0cj_hp_relaxed.owl 2021-02-01 13:19:09+00:00 peter owl:Class UBERON:0001773 biolink:NamedThing sclera Opaque fibrous outer layer of the eyeball[ZFA,Kardong,WP]. tmpxe7fu0cj_hp_relaxed.owl scleral capsule BTO:0001606|Wikipedia:Sclera|AAO:0010354|UMLS:C0036410|MESH:D012590|VHOG:0001274|FMA:58269|NCIT:C12784|ZFA:0005563|SCTID:181163006|EMAPA:19027|MA:0000280|EV:0100342|XAO:0000183|OpenCyc:Mx4rv7yR55wpEbGdrcN5Y29ycA|GAID:911 Disease notes: implicated in rheumatoid arthritis. http://upload.wikimedia.org/wikipedia/commons/1/1e/Schematic_diagram_of_the_human_eye_en.svg uberon owl:Class The tough, usually white, outer coat of the eyeball, covering all the posterior surface and continuous anteriorly with the cornea. [TFD][VHOG]|The sclera, also known as the white part of the eye, is the opaque (usually white, though certain animals, such as horses and lizards, can have black sclera), fibrous, protective, outer layer of the eye containing collagen and elastic fiber. It is derived from the neural crest. In children, it is thinner and shows some of the underlying pigment, appearing slightly blue. In the elderly, however, fatty deposits on the sclera can make it appear slightly yellow. The sclera forms the posterior five sixths of the connective tissue coat of the globe. It is continuous with the dura mater and the cornea, and maintains the shape of the globe, offering resistance to internal and external forces, and provides an attachment for the extraocular muscle insertions. The sclera is perforated by plenty of nerves and vessels passing through the posterior scleral foramen, the hole that is formed by the optic nerve. At the optic disk the outer two-thirds of the sclera continues with the dura mater (outer coat of the brain) via the dural sheath of the optic nerve. The inner third joins with some choroidal tissue to form a plate (lamina cribrosa) across the optic nerve with perforations through which the optic fibers (fasciculi). The thickness of the sclera varies from 1mm at the posterior pole to 0.3 mm just behind the rectus muscle insertions. The sclera's blood vessels are mainly on the surface, and together with the conjunctiva (which lies on top) This is a thin layer covering the sclera. Along with the vessels of the conjunctiva, those of the sclera renders the inflamed eye bright red. [WP,unvetted][Wikipedia:Sclera]. scleral in fish, reptiles and monotremes the connective tissue of the sclera is skeletal continuous with the dura mater and the cornea; The sclera forms the posterior five-sixths of the connective tissue coat of the globe. Majority derives from NC that surrounds optic cup of neurectoderm; a small temporal portion develops from the mesoderm that contributes to striated extra-ocular muscles and vascular endothelia[Rada&Johnson].|Seko et al demonstrate chondrogenic potential and identify this as connective tissue[DOI:10.1371/journal.pone.0003709]. HP:0004488 biolink:NamedThing Macrocephaly at birth The presence of an abnormally large skull with onset at birth. tmpxe7fu0cj_hp_relaxed.owl Big skull present at birth|Large skull present at birth|Congenital large cranium|Congenital macrocephaly|Large head present at birth|Head circumference large for gestational age|Large cranium present since birth|Large cranium present at birth|Congenital large head|Big head present since birth|Big cranium present at birth|Large skull present since birth|Big skull present since birth|Big cranium present since birth|Large head present since birth|Congenital large skull|Big head present at birth UMLS:C1836599 human_phenotype owl:Class UBERON:0003538 biolink:NamedThing right lung bronchiole A bronchiole that is part of a right lung [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl right lung lobular bronchiole|lobular bronchiole of right lung|bronchiole of right lung MA:0001787|EMAPA:35425|NCIT:C49279|UMLS:C0225670 uberon owl:Class UBERON:0002186 biolink:NamedThing bronchiole The conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching. tmpxe7fu0cj_hp_relaxed.owl bronchiolus|bronchioli|lobular bronchiole EMAPA:32697|EHDAA:8221|VHOG:0000675|EHDAA:8199|OpenCyc:Mx4rvl9iDpwpEbGdrcN5Y29ycA|CALOHA:TS-2003|MA:0000422|BTO:0002375|NCIT:C12684|EHDAA:8171|UMLS:C0006270|FMA:7410|EHDAA:8183 Alveoli:diagram.png uberon owl:Class bronchiolar lacks submucosa and cartilage plates; they have 3 layers: mucosa, muscular layer and outer layer HP:0030376 biolink:NamedThing Abnormal proportion of immature B cells A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). tmpxe7fu0cj_hp_relaxed.owl Abnormal proportion of CD19+/CD21low B cells UMLS:C4072915 owl:Class HP:0025539 biolink:NamedThing Abnormal B cell subset distribution tmpxe7fu0cj_hp_relaxed.owl 2017-06-12 15:24:43+00:00 HPO:probinson owl:Class HP:0010478 biolink:NamedThing Abnormality of the urachus Abnormality of the urachus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023811 The urachus is a vestigial embryonic structure, a canal that connects the urinary bladder of the fetus with the allantois (a structure involved in the development of the umbilical cord). During embryonic development, the lumen of the urachus is normally obliterated, transforming the urachus into a solid cord. peter 2009-09-15T10:13:04Z human_phenotype owl:Class GO:0070451 biolink:NamedThing cell hair tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0003282 biolink:NamedThing Low alkaline phosphatase Abnormally reduced serum levels of alkaline phosphatase. tmpxe7fu0cj_hp_relaxed.owl Low ALP|Decreased serum alkaline phosphatase UMLS:C1860130 human_phenotype owl:Class HP:0004379 biolink:NamedThing Abnormality of alkaline phosphatase level An abnormality of alkaline phosphatase level. tmpxe7fu0cj_hp_relaxed.owl Alkaline phosphatase abnormal|Abnormality of alkaline phosphatase activity|Abnormality of ALP level UMLS:C4020829|UMLS:C4025328 Note that the alkaline phosphatase family has four isoenzymes in humans, each of which additionally can have different isoforms. The primary clinical importance of measuring alkaline phosphatase is to check the possibility of bone disease or liver disease. peter 2008-03-18T08:13:00Z human_phenotype owl:Class GO:0000271 biolink:NamedThing polysaccharide biosynthetic process The chemical reactions and pathways resulting in the formation of a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. tmpxe7fu0cj_hp_relaxed.owl glycan biosynthetic process|glycan biosynthesis|polysaccharide formation|polysaccharide anabolism|polysaccharide synthesis|polysaccharide biosynthesis biological_process owl:Class GO:0042181 biolink:NamedThing ketone biosynthetic process The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. tmpxe7fu0cj_hp_relaxed.owl ketone anabolism|ketone formation|ketone biosynthesis|ketone synthesis biological_process owl:Class GO:0042180 biolink:NamedThing cellular ketone metabolic process The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. tmpxe7fu0cj_hp_relaxed.owl ketone metabolism biological_process owl:Class HP:0031080 biolink:NamedThing Abnormal response to glucagon stimulation test An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH). tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 23:47:24+00:00 peter owl:Class HP:0031072 biolink:NamedThing Abnormal endocrine physiology Any anomaly of the function of the endocrine system. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 23:12:36+00:00 peter owl:Class UBERON:0005135 biolink:NamedThing metanephric glomerular epithelium A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0004188 biolink:NamedThing glomerular epithelium The glomerular epithelium is an epithelial tissue that covers the outer surfaces of the glomerulus. The glomerular epithelium consists of both parietal and visceral epithelium. Metanephric glomerular parietal epithelial cells are specialized epithelial cells that form tight junctions as a barrier to protein transport. A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros. tmpxe7fu0cj_hp_relaxed.owl kidney glomerular epithelium|glomerular epithelial cell|epithelium of renal glomerulus|epithelium of glomerulus|epithelium of kidney glomerulus EMAPA:35458|BTO:0001515|MA:0002847 TODO - check - GO says outer, BTO says inner. Make this a superclass uberon owl:Class UBERON:0001331 biolink:NamedThing skin of penis A zone of skin that is part of a penis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl penile skin|zone of skin of penis|penis skin|penis zone of skin FMA:19638|MA:0002727|EMAPA:35675 uberon owl:Class PATO:0001473 biolink:NamedThing duplicated A quality inhering in a bearer by virtue of the bearer's being present in two copies. tmpxe7fu0cj_hp_relaxed.owl doubled quality owl:Class UBERON:0005965 biolink:NamedThing outflow part of right atrium Outflow part of atrium which consists of wall and cavity of the outflow part of right atrium and the tricuspid valve.[FMA]. tmpxe7fu0cj_hp_relaxed.owl main part of right atrium|outflow tract of right atrium FMA:9550 uberon owl:Class UBERON:0005946 biolink:NamedThing outflow tract of atrium An outflow tract that is part of a cardiac atrium. tmpxe7fu0cj_hp_relaxed.owl outflow part of atrium FMA:14141 uberon owl:Class HP:0009173 biolink:NamedThing Curved middle phalanx of the 5th finger Curved appearance of the middle phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Curved middle bone of pinky finger|Curved middle bone of pinkie finger|Curved middle bone of little finger UMLS:C4024557 peter 2008-12-29T03:05:04Z human_phenotype owl:Class UBERON:0002263 biolink:NamedThing lentiform nucleus The lentiform nucleus or lenticular nucleus comprises the putamen and the globus pallidus within the basal ganglia. It is a large, cone-shaped mass of gray matter just lateral to the internal capsule. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl nucleus lenticularis|nucleus lentiformis|lenticular nucleus EMAPA:18208|EMAPA:19147|NCIT:C32977|UMLS:C0162342|FMA:77615|MA:0000896|BTO:0002250|OpenCyc:Mx4rvvyH2ZwpEbGdrcN5Y29ycA|EV:0100186 http://upload.wikimedia.org/wikipedia/commons/f/fc/Gray741.png TODO - add parts uberon owl:Class the EMAPA class is unclear HP:0410192 biolink:NamedThing Abnormal uridine diphosphate glucose-4-epimerase level An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose. tmpxe7fu0cj_hp_relaxed.owl Abnormal UDP-glucose 4-epimerase level 2018-05-21 18:22:02+00:00 owl:Class HP:0032541 biolink:NamedThing Knuckle pad Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern. tmpxe7fu0cj_hp_relaxed.owl Knuckle pads on dorsal aspect of finger joints 2019-05-27 15:11:27+00:00 Knuckle pads can be associated with camptodactyly (fixed flexion deformity of the interphalangeal joints of the little finger) as overlapping symptoms and are associated with many genetic factors. Although they can be associated to repetitive local trauma (for example repetitive batting of the knuckles, e.g. by boxers or suction the fingers by children), coexist with palmar (Dupuytren disease) or plantar fibromatosis (Ledderhose disease) or Peyronie disease, most knuckle pads are idiopathic. peter owl:Class HP:0002757 biolink:NamedThing Recurrent fractures The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). tmpxe7fu0cj_hp_relaxed.owl Increased fracture rate|Recurrent fractures|Frequent fractures|Multiple fractures|Multiple spontaneous fractures|Increased fractures|Varying degree of multiple fractures UMLS:C0016655|SNOMEDCT_US:5468008|SNOMEDCT_US:134291007|MSH:D000069076|UMLS:C1833752|UMLS:C3805574|UMLS:C3806283 This term will be made obsolete. The annotations need to be checked. HP:0002767|HP:0002660|HP:0002809 human_phenotype owl:Class HP:0002659 biolink:NamedThing Increased susceptibility to fractures An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. tmpxe7fu0cj_hp_relaxed.owl Frequent broken bones|Increased bone fragility|Increased susceptibility to fractures|Bone fragility|Abnormal susceptibility to fractures|Increased tendency to fractures UMLS:C1390474 This is a bundled term that will be made obsolete. HP:0005783|HP:0002798|HP:0005710|HP:0002662|HP:0005931 human_phenotype owl:Class GO:0051875 biolink:NamedThing pigment granule localization Any process in which a pigment granule is transported to, and/or maintained in, a specific location within the cell. tmpxe7fu0cj_hp_relaxed.owl pigment granule localisation biological_process owl:Class HP:0010878 biolink:NamedThing Fetal cystic hygroma The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. tmpxe7fu0cj_hp_relaxed.owl Foetal cystic hygroma MSH:C537852|UMLS:C0948242 Upon ultrasound examination, fetal cystic hygroma presents as a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts related to the posterior aspect of the neck. Cystic hygromas can range from increased nuchal translucency to thin-walled cystic masses that may become larger than the fetal head. The cysts may result from a lymphatic abnormality, possibly one caused by absent or inefficient connections between the lymphatic and venous systems. Depending on the site, the cut off may vary from site to site. Lowest would be 2.5 mm and highest 3.5 mm. peter 2010-09-13T08:02:26Z human_phenotype owl:Class GO:0048251 biolink:NamedThing elastic fiber assembly Assembly of the extracellular matrix fibers that enables the matrix to recoil after transient stretching. tmpxe7fu0cj_hp_relaxed.owl elastin fibre assembly|elastin fiber assembly|elastic fibre assembly biological_process owl:Class GO:0097435 biolink:NamedThing supramolecular fiber organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a supramolecular fiber, a polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. tmpxe7fu0cj_hp_relaxed.owl fibril organisation|extracellular fibril organization and biogenesis|extracellular fibril organisation|fibril organization|extracellular fibril organization pr 2012-11-27T15:46:25Z GO:0043206 biological_process owl:Class GO:2001200 biolink:NamedThing positive regulation of dendritic cell differentiation Any process that activates or increases the frequency, rate or extent of dendritic cell differentiation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-11-04T02:01:36Z biological_process owl:Class HP:0008678 biolink:NamedThing Renal hypoplasia/aplasia Absence or underdevelopment of the kidney. tmpxe7fu0cj_hp_relaxed.owl Absent/small kidney|Absent/underdeveloped kidney|Renal aplasia/hypoplasia|Renal agenesis/hypoplasia UMLS:C1857453 HP:0004744|HP:0008701 human_phenotype owl:Class GO:0099174 biolink:NamedThing regulation of presynapse organization Any process that modulates the physical form of a presynapse. tmpxe7fu0cj_hp_relaxed.owl regulation of presynapse organization and biogenesis|regulation of presynapse structure|regulation of presynapse organisation biological_process owl:Class HP:0200044 biolink:NamedThing Porokeratosis A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella. tmpxe7fu0cj_hp_relaxed.owl MSH:D017499|SNOMEDCT_US:80432009|UMLS:C0949506 sebastiankohler 2010-06-18T11:57:47Z human_phenotype owl:Class HP:0040218 biolink:NamedThing Reduced natural killer cell count Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor. tmpxe7fu0cj_hp_relaxed.owl Reduced natural killer cell number|Reduced NK cell number UMLS:C1855767 owl:Class HP:0040089 biolink:NamedThing Abnormal natural killer cell count Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes. tmpxe7fu0cj_hp_relaxed.owl Abnormal NK cell count|Abnormality of natural killer cell count|Abnormal number of natural killer cells|Abnormal natural killer cell count UMLS:C4021036 In human peripheral blood, five NK cell subpopulations can be defined on the basis of the relative expression of the markers CD16 and CD56: (1) CD56bright CD16- (50-70% of CD56bright), (2) CD56bright CD16dim (30-50% of CD56bright), (3) CD56dim CD16-, (4) CD56dim CD16bright, and (5) CD56- CD16bright. In healthy individuals, populations (3) and (5) are numerically in the minority. HPO:skoehler owl:Class HP:4000037 biolink:NamedThing Congenital hydrocele Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 20:11:02+00:00 robinp owl:Class HP:0033374 biolink:NamedThing Decreased KCO Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). tmpxe7fu0cj_hp_relaxed.owl 2020-12-23 12:41:42+00:00 peter owl:Class HP:0033372 biolink:NamedThing Abnormal KCO Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O. tmpxe7fu0cj_hp_relaxed.owl 2020-12-23 12:36:28+00:00 The carbon monoxide transfer coefficient (KCO is approximately kCO/barometric pressure in mL/minute/ mmHg/L) is often written as DLCO/VA. It is an index of the efficiency of alveolar transfer of carbon monoxide. peter owl:Class UBERON:0003072 biolink:NamedThing optic cup Multi-tissue structure that is comprised of neural and non-neural epithelial layers which will form the retina and retinal pigmented epithelium of the mature eye[ZFA]. double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye[MP]. tmpxe7fu0cj_hp_relaxed.owl eyecup|ocular cup|eye cup|ophtalmic cup TAO:0001202|BTO:0005351|NCIT:C34233|SCTID:308789007|ZFA:0001202|VHOG:0000167|EMAPA:16674|EHDAA2:0001303|EHDAA:2912|UMLS:C0231109 uberon owl:Class (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup.[well established][VHOG] GO:1902362 biolink:NamedThing melanocyte apoptotic process Any apoptotic process in a melanocyte, the main structural component of the epidermis. tmpxe7fu0cj_hp_relaxed.owl melanocyte apoptosis|melanophore apoptotic process|melanophore apoptosis pr 2013-08-15T16:35:45Z biological_process owl:Class UBERON:0004105 biolink:NamedThing subungual region Region beneath a nail or claw. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-2351 consider merging with nailbed uberon owl:Class subungual UBERON:0001422 biolink:NamedThing facial lymphatic vessel A lymphatic vessel that is part of a face [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lymphatic vessel of face|lymph vessel of face|face lymph vessel|face lymphatic vessel|buccal lymphatic vessel|FL FMA:233946|ZFA:0005108|TAO:0005108 uberon owl:Class GO:0032892 biolink:NamedThing positive regulation of organic acid transport Any process that activates or increases the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl stimulation of organic acid transport|up-regulation of organic acid transport|upregulation of organic acid transport|up regulation of organic acid transport|activation of organic acid transport biological_process owl:Class NCBITaxon:55885 biolink:NamedThing Peloderinae tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6243 biolink:NamedThing Rhabditidae tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 NCBITaxon:54603 ncbi_taxonomy owl:Class UBERON:0006002 biolink:NamedThing vitelline artery The paired arteries that carry blood to the yolk sac from the dorsal aorta. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0002208|EMAPA:16207 Development notes:; the vitelline arteries give rise to the celiac artery, superior mesenteric artery, and inferior mesenteric artery in the adult[MP:0010664] http://upload.wikimedia.org/wikipedia/commons/5/55/Gray31.png uberon owl:Class HP:0010760 biolink:NamedThing Absent toe Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. tmpxe7fu0cj_hp_relaxed.owl Absent toe|Aplasia of toe|Aplasia of the toes|Absent toes UMLS:C3553754 This descriptor does NOT require absence of the metatarsal. The definition excludes partial absent hallux. doelkens 2010-04-23T03:58:25Z HP:0011306|HP:0010108|HP:0008084 human_phenotype owl:Class HP:0100384 biolink:NamedThing Absent proximal phalanx of the 3rd toe Absence of proximal phalanx of third toe, owing to a congenital defect of development. tmpxe7fu0cj_hp_relaxed.owl Aplasia of the proximal phalanx of the 3rd toe|Absent innermost bone of the 3rd toe UMLS:C4021009 human_phenotype owl:Class HP:0100362 biolink:NamedThing Aplasia of the phalanges of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Absent digital bone of the 3rd toe UMLS:C4022125 human_phenotype owl:Class GO:0060539 biolink:NamedThing diaphragm development The progression of the diaphragm over time from its initial formation to the mature structure. The diaphragm is a skeletal muscle that is responsible for contraction and expansion of the lungs. tmpxe7fu0cj_hp_relaxed.owl dph 2009-04-10T08:44:56Z biological_process owl:Class GO:0051351 biolink:NamedThing positive regulation of ligase activity Any process that activates or increases the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. tmpxe7fu0cj_hp_relaxed.owl stimulation of ligase activity|upregulation of ligase activity|ligase activator|up regulation of ligase activity|up-regulation of ligase activity|activation of ligase activity biological_process owl:Class GO:0043085 biolink:NamedThing positive regulation of catalytic activity Any process that activates or increases the activity of an enzyme. tmpxe7fu0cj_hp_relaxed.owl up-regulation of metalloenzyme activity|positive regulation of enzyme activity|up regulation of metalloenzyme activity|upregulation of metalloenzyme activity|activation of enzyme activity|positive regulation of metalloenzyme activity|stimulation of metalloenzyme activity|upregulation of enzyme activity|up regulation of enzyme activity|up-regulation of enzyme activity|activation of metalloenzyme activity|stimulation of enzyme activity GO:0048554 biological_process owl:Class HP:0004831 biolink:NamedThing Recurrent thromboembolism Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream. tmpxe7fu0cj_hp_relaxed.owl Recurrent thromboembolic disease UMLS:C0749398|UMLS:C4025286 human_phenotype owl:Class HP:0002827 biolink:NamedThing Hip dislocation Displacement of the femur from its normal location in the hip joint. tmpxe7fu0cj_hp_relaxed.owl Dislocation of hip|Dislocated hips|Hip dislocation UMLS:C0019554|SNOMEDCT_US:157265008|MSH:D006617 HP:0001375 human_phenotype owl:Class HP:0031448 biolink:NamedThing Herpetiform vesicles Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 14:44:17+00:00 peter owl:Class HP:0200037 biolink:NamedThing Skin vesicle A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3814530 sebastiankohler 2010-06-18T01:58:15Z human_phenotype owl:Class CHEBI:50326 biolink:NamedThing sulfanylmethyl group tmpxe7fu0cj_hp_relaxed.owl HS-CH2-|-CH2-SH|sulfanylmethyl|cysteine side-chain 0 CH3S 47.10052 46.99555 SC* chebi_ontology owl:Class UBERON:0006868 biolink:NamedThing seminal fluid secreting gland A gland that secretes a seminal fluid. tmpxe7fu0cj_hp_relaxed.owl FBbt:00004958|WBbt:0006870 uberon owl:Class HP:0002048 biolink:NamedThing Renal cortical atrophy Atrophy of the cortex of the kidney. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025730 human_phenotype owl:Class UBERON:0010744 biolink:NamedThing sacral vertebra pre-cartilage condensation A sacral vertebra endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl sacral vertebral pre-cartilage condensation group EHDAA2:0001774|EMAPA:17677 uberon owl:Class UBERON:0015010 biolink:NamedThing sacral vertebra endochondral element A vertebra endochondral element that is part of the sacral region of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl sacral vertebra skeletal element|sacral vertebra element uberon owl:Class HP:0033505 biolink:NamedThing Livedo reticularis Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 14:43:05+00:00 The distinction to cutis marmorata is that the mottling does not resolve when the skin is warmed, and the discoloration is bluish purple rather than red. The Livedo reticularis lesion is more intense and is persistent. peter owl:Class HP:0012787 biolink:NamedThing Recurrent pyelonephritis Repeated episodes of pyelonephritis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0748199 peter 2014-04-22T09:24:10Z human_phenotype owl:Class UBERON:0001618 biolink:NamedThing buccal artery The buccal artery (buccinator artery) is small and runs obliquely forward, between the Pterygoideus internus and the insertion of the Temporalis, to the outer surface of the Buccinator, to which it is distributed, anastomosing with branches of the external maxillary and with the infraorbital. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl arteria buccalis|arteria buccinatoria FMA:49754|EMAPA:37073|UMLS:C0226151|NCIT:C52847|MA:0001924 http://upload.wikimedia.org/wikipedia/commons/7/7b/Gray508.png uberon owl:Class UBERON:0004185 biolink:NamedThing endodermal part of digestive tract A portions of the gut that is derived from endoderm. tmpxe7fu0cj_hp_relaxed.owl endodermal gut|gut endoderm EMAPA:32930 uberon owl:Class HP:0010229 biolink:NamedThing Bracket epiphyses of the phalanges of the hand Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket epiphyses of the fingers|Bracket shaped end part of finger bones UMLS:C4021309 doelkens 2009-07-06T03:31:52Z HP:0009360 human_phenotype owl:Class UBERON:0002068 biolink:NamedThing urachus A fibrous remnant of the allantoic stalk, a narrow fetal canal connecting the apex of the urinary bladder with the umbilicus located in the space of Retzius, between the transversalis fascia anteriorly and the peritoneum posteriorly. its lumen is normally obliterated during development, transforming the urachus into a solid cord, a functionless remnant that persists throughout life as the median umbilical ligament; failure of complete lumen obliteration may result in distinct congenital urachal remnant anomalies[MP]. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0041916|EHDAA:7016|MA:0001701|MESH:A16.254.835|EHDAA2:0002137|GAID:1313|VHOG:0000735|RETIRED_EHDAA2:0002138|FMA:70343|EMAPA:18323|NCIT:C12338|EHDAA:9332 http://upload.wikimedia.org/wikipedia/commons/6/63/Gray1156.png uberon owl:Class A fetal canal connecting the bladder with the allantois, persisting throughout life as a cord (median umbilical ligament). [TFD][VHOG] urachal HP:0009220 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 4th finger Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the middle ring finger bone UMLS:C4024521 doelkens 2009-01-05T05:23:59Z human_phenotype owl:Class HP:0009399 biolink:NamedThing Ivory epiphyses of the 4th finger Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the ring finger bone UMLS:C4024391 doelkens 2009-01-13T01:59:12Z human_phenotype owl:Class GO:0032377 biolink:NamedThing regulation of intracellular lipid transport Any process that modulates the frequency, rate or extent of the directed movement of lipids within cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009700 biolink:NamedThing Finger symphalangism An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly. tmpxe7fu0cj_hp_relaxed.owl Fused finger bones|Symphalangism of the hand|Synostosis involving bones of the fingers UMLS:C4021399 doelkens 2009-01-30T04:12:24Z human_phenotype owl:Class HP:0100262 biolink:NamedThing Synostosis involving digits tmpxe7fu0cj_hp_relaxed.owl Fusion involving digits UMLS:C4022178 doelkens 2010-07-20T02:58:46Z human_phenotype owl:Class HP:0009508 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 2nd finger Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Ivory epiphysis of terminal index finger phalanx|Increased bone density of end part of the outermost bone of the index finger UMLS:C4021460 doelkens 2009-01-16T01:11:04Z HP:0004148 human_phenotype owl:Class UBERON:0005497 biolink:NamedThing non-neural ectoderm tmpxe7fu0cj_hp_relaxed.owl epidermal ectoderm|epithelial ectoderm|surface ectoderm|non neural ectoderm|ventral ectoderm RETIRED_EHDAA2:0001273|XAO:0004091|EFO:0003643|VHOG:0001372|EMAPA:16074|ZFA:0001178|EHDAA:257|TAO:0001178 Gene notes: One of the first genes to be expressed in nonneural ectoderm in amphioxus is BMP2/4 (Panopoulou et al. 1998). BMP2/4 homologues appear to have a very ancient role in distinguishing neural from nonneural ectoderm; in Drosophila as well as in amphioxus and vertebrates, BMP2/4 homologues are expressed in nonneural ectoderm and function in distinguishing neural from nonneural ectoderm (Francois & Bier, 1995 ; Sasai et al. 1995 ; Wilson & Hemmati-Brivanlou, 1995; Panopoulou et al. 1998). A change in level of BMP2/4 from very high in nonneural ectoderm to low in neural ectoderm appears to be a key factor in development of neural crest (Baker & Bronner-Fraser,1997a,1997b;Erickson&Reedy,1998;Marchantet al.1998 ;Selleck et al. 1998). todo - epidermis? todo - track down EHDAA2 class in new release uberon owl:Class In the early gastrula of vertebrates, factors from the organizer (e.g. noggin, chordin, and follistatin in Xenopus) antagonize the epidermalizing factor bone morphogenetic protein 4 (BMP4), thus dividing the epiblast into neuroectoderm. In Drosophila, decapentaplegic, the homologue of BMP4, interacts similarly with the protein short gastrulation, the homologue of chordin. Thus, a comparable molecular mechanism for distinguishing non-neural ectoderm from neural ectoderm was probably present in the common ancestor of all bilaterally symmetrical animals.[well established][VHOG] After gastrulation, neural crest cells are specified at the border of the neural plate and the non-neural ectoderm. UBERON:0011203 biolink:NamedThing urachus mesenchyme Mesenchyme that is part of a developing urachus. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004726 uberon owl:Class UBERON:0022351 biolink:NamedThing parietal serous membrane Serous membrane layer that lines to a body cavity. tmpxe7fu0cj_hp_relaxed.owl cavity lining|parietal wall of serous membrane FMA:15859|MA:0002448 uberon owl:Class HP:0006203 biolink:NamedThing Decreased movement range in interphalangeal joints tmpxe7fu0cj_hp_relaxed.owl Decreased range of movement range in hinge joints UMLS:C1836772 human_phenotype owl:Class HP:0006135 biolink:NamedThing Decreased finger mobility tmpxe7fu0cj_hp_relaxed.owl Decreased finger movement|Decreased finger mobility UMLS:C1862133 human_phenotype owl:Class HP:0030797 biolink:NamedThing Reduced volume of central subdivision of bed nucleus of stria terminalis A diminished volume of the central part of the bed nucleus of the stria terminalis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280762 This structure is larger in men than in females. owl:Class HP:0030798 biolink:NamedThing Abnormality of the bed nucleus of stria terminalis The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280761 owl:Class HP:0010578 biolink:NamedThing Bracket epiphyses tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of long bone UMLS:C4023785 sandra1 2009-10-22T02:53:19Z human_phenotype owl:Class GO:0006536 biolink:NamedThing glutamate metabolic process The chemical reactions and pathways involving glutamate, the anion of 2-aminopentanedioic acid. tmpxe7fu0cj_hp_relaxed.owl glutamate metabolism|glutamic acid metabolic process|glutamic acid metabolism Wikipedia:Glutamic_acid biological_process owl:Class HP:0009267 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 4th finger Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the innermost ring finger bone UMLS:C4024482 doelkens 2009-01-07T12:12:59Z human_phenotype owl:Class HP:0010274 biolink:NamedThing Ivory epiphyses of the proximal phalanges of the hand Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the innermost hand bones UMLS:C4023927 doelkens 2009-07-06T04:25:12Z human_phenotype owl:Class HP:0011480 biolink:NamedThing Unilateral microphthalmos A developmental anomaly characterized by abnormal smallness of one eye. tmpxe7fu0cj_hp_relaxed.owl Abnormally small eyeball on one side|Unilateral nanophthalmos UMLS:C3640024|UMLS:C4280323 peter 2012-04-01T12:35:57Z human_phenotype owl:Class HP:0000568 biolink:NamedThing Microphthalmia A developmental anomaly characterized by abnormal smallness of one or both eyes. tmpxe7fu0cj_hp_relaxed.owl Decreased size of globe of eye|Abnormally small globe of eye|Microphthalmos|Nanophthalmos|Abnormally small eyeball|Decreased size of eyeball UMLS:C0026010|SNOMEDCT_US:61142002|MSH:D008850|Fyler:4877|UMLS:C4280625|UMLS:C4280808|SNOMEDCT_US:204108000 HP:0007996 human_phenotype owl:Class HP:0033279 biolink:NamedThing Enterocutaneous fistula An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 17:55:49+00:00 peter owl:Class HP:0100819 biolink:NamedThing Intestinal fistula An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract. tmpxe7fu0cj_hp_relaxed.owl MEDDRA:10022647|UMLS:C0021833|SNOMEDCT_US:38851006|MSH:D007412 doelkens 2011-06-09T04:57:15Z human_phenotype owl:Class UBERON:0004663 biolink:NamedThing aorta wall An anatomical wall that is part of an aorta, enclosing the luminal space. tmpxe7fu0cj_hp_relaxed.owl wall of aorta|aortic wall EMAPA:35139|FMA:14156|MA:0002901 uberon owl:Class UBERON:0035965 biolink:NamedThing wall of blood vessel tmpxe7fu0cj_hp_relaxed.owl blood vessel wall|vascular wall FMA:67473|EMAPA:37987|BTO:0004378 uberon owl:Class HP:0011807 biolink:NamedThing Type 1 muscle fiber atrophy Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Type 1 muscle fibre atrophy UMLS:C4023180 peter 2012-04-26T12:05:14Z human_phenotype owl:Class HP:0100295 biolink:NamedThing Muscle fiber atrophy tmpxe7fu0cj_hp_relaxed.owl Muscle fibre atrophy|Muscle fiber degeneration|Muscle fibre degeneration UMLS:C0333751|SNOMEDCT_US:67867005 doelkens 2010-08-10T01:58:24Z HP:0100294 human_phenotype owl:Class UBERON:0002360 biolink:NamedThing meninx Membrane organ that surrounds the brain and the spinal cord. tmpxe7fu0cj_hp_relaxed.owl meningeal layer|meninx primitiva|layer of meninges EV:0100312|VHOG:0001295|MESH:D008578|UMLS:C0025285|NCIT:C12348|Wikipedia:Meninx|GAID:687|MAT:0000113|EFO:0000867|ZFA:0001355|OpenCyc:Mx4rwDOl8JwpEbGdrcN5Y29ycA|CALOHA:TS-1177|FMA:9589|BTO:0000144|EMAPA:32660|TAO:0001355|MA:0001113|NLXANAT:090204 Illu:meninges.jpg uberon owl:Class Membrane covering the brain and spinal cord. It is represented by a single layer in fishes, two in amphibians, reptiles and birds and three in mammals (named dura mater, arachnoid and pia mater). [TFD][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] meningeal Whereas cyclostomes and fishes only have a single envelope called the primitive meninx, amphibians have two layers, consisting of an outer dura mater which is extremely dense and protective, and a pia-arachnoid or secondary meninx which is more delicate and vascular. Mammals have three meninges: pia mater (which follows all the convolutions of the brain and is the most interior), the arachnoid layer (which is delicate and sends strands to the pia mater), and the dura mater (the outer, more protective meninx). Not consider part of the CNS/neuraxis in FMA GO:1903489 biolink:NamedThing positive regulation of lactation tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0048582 biolink:NamedThing positive regulation of post-embryonic development Any process that activates or increases the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. tmpxe7fu0cj_hp_relaxed.owl up regulation of post-embryonic development|upregulation of post-embryonic development|stimulation of post-embryonic development|up-regulation of post-embryonic development|activation of post-embryonic development biological_process owl:Class GO:0010039 biolink:NamedThing response to iron ion Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an iron ion stimulus. tmpxe7fu0cj_hp_relaxed.owl response to iron biological_process owl:Class GO:0010038 biolink:NamedThing response to metal ion Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metal ion stimulus. tmpxe7fu0cj_hp_relaxed.owl response to metal|heavy metal sensitivity/resistance|response to heavy metal biological_process owl:Class CHEBI:39026 biolink:NamedThing low-density lipoprotein A class of lipoproteins of small size (18-25 nm) and low density (1.019-1.063 g/ml) particles with a core composed mainly of cholesterol esters and smaller amounts of triglycerides. The surface monolayer consists mostly of phospholipids, a single copy of apolipoprotein B-100, and free cholesterol molecules. The main function of LDL is to transport cholesterol and cholesterol esters from the liver. Excessive levels are associated with cardiovascular disease. tmpxe7fu0cj_hp_relaxed.owl LDL|low-density lipoproteins|beta-lipoproteins Wikipedia:Low-density_lipoprotein|PMID:28792690|PMID:28859941|PMID:28827781|PMID:28847800|PMID:15583011|PMID:19349632|PMID:28432662|PMID:28401639|PMID:11082530|PMID:15913955|PMID:28870972 chebi_ontology owl:Class CHEBI:6495 biolink:NamedThing lipoprotein A clathrate complex consisting of a lipid enwrapped in a protein host without covalent binding in such a way that the complex has a hydrophilic outer surface consisting of all the protein and the polar ends of any phospholipids. tmpxe7fu0cj_hp_relaxed.owl lipoproteins|Lipoprotein|lipoprotein particle KEGG:C01834 chebi_ontology owl:Class GO:0016416 biolink:NamedThing O-palmitoyltransferase activity Catalysis of the transfer of a palmitoyl group to an oxygen atom on the acceptor molecule. tmpxe7fu0cj_hp_relaxed.owl Reactome:R-HSA-2466710|Reactome:R-HSA-2453855|Reactome:R-HSA-2404137 molecular_function owl:Class GO:0008374 biolink:NamedThing O-acyltransferase activity Catalysis of the transfer of an acyl group to an oxygen atom on the acceptor molecule. tmpxe7fu0cj_hp_relaxed.owl Reactome:R-HSA-422017|Reactome:R-HSA-162683|Reactome:R-HSA-5483229|Reactome:R-HSA-1482867|Reactome:R-HSA-1482850|Reactome:R-HSA-1482781|Reactome:R-HSA-3238694|Reactome:R-HSA-5358343|Reactome:R-HSA-422104|Reactome:R-HSA-1482775|Reactome:R-HSA-1482861 molecular_function owl:Class HP:0007497 biolink:NamedThing Focal friction-related palmoplantar hyperkeratosis Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction. tmpxe7fu0cj_hp_relaxed.owl Hyperkeratosis, palmoplantar, focal friction-related UMLS:C1835654 human_phenotype owl:Class HP:0008569 biolink:NamedThing Microtia, second degree Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear. tmpxe7fu0cj_hp_relaxed.owl Severe cupped ear, type III|Constricted helix type IV|Mini ear|Cockleshell ear|Shell ear|Ear, grade II dysplasia|Snail ear UMLS:C4020795|UMLS:C4020796|UMLS:C4020792|UMLS:C4020794|UMLS:C4020797|UMLS:C4020694|UMLS:C4020793 human_phenotype owl:Class HP:0008551 biolink:NamedThing Microtia Underdevelopment of the external ear. tmpxe7fu0cj_hp_relaxed.owl Small ears|Bilateral microtia|Small pinnae|Hypoplasia of the external ear|Hypoplastic ears|Hypoplastic pinna|Underdeveloped ears SNOMEDCT_US:35045004|MSH:D065817|UMLS:C0152423 The definitions of microtia follow a widely used, surgically based, classification of ear anomalies outlined by Weerda 1988. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established. HP:0008550|HP:0000393|HP:0000409|HP:0008621|HP:0008618 human_phenotype owl:Class UBERON:0001528 biolink:NamedThing radio-ulnar joint A joint that connects the radius and the ulna. Examples: proximal and distal radio-ulnar joints. tmpxe7fu0cj_hp_relaxed.owl radioulnar joint|articulation of the radus and ulna|radioulnar articulation FMA:38863|OpenCyc:Mx4rvlO2nJwpEbGdrcN5Y29ycA|EMAPA:19206|MA:0003145 Forearm:labeled.png uberon owl:Class HP:0000674 biolink:NamedThing Anodontia The absence of all teeth from the normal series by a failure to develop. tmpxe7fu0cj_hp_relaxed.owl Missing all teeth|Complete agenesis of all teeth|Total absence of all teeth|Complete anodontia|Anodontia vera|Failure of development of all teeth|Total anodontia|Complete dental agenesis SNOMEDCT_US:16958000|UMLS:C0399352|UMLS:C4280622|MSH:D000848|SNOMEDCT_US:26624006 Anodontia can affect both primary and permanent teeth. Alternatively, there can be anodontia of just the permanent teeth. Anodontia must be distinguished from non-erupted teeth. HP:0006484 owl:Class HP:0004023 biolink:NamedThing Sloping radial metaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025437 human_phenotype owl:Class HP:0004015 biolink:NamedThing Abnormality of radial metaphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025444 human_phenotype owl:Class GO:2000110 biolink:NamedThing negative regulation of macrophage apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage apoptotic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of AICD|negative regulation of macrophage apoptosis|negative regulation of activation-induced cell death mah 2010-09-15T01:44:18Z biological_process owl:Class HP:0032613 biolink:NamedThing Renal interstitial amyloid deposits Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. tmpxe7fu0cj_hp_relaxed.owl Renal interstitial amyloidosis|Renal interstitial amyloid deposition|Renal interstitial amyloid peter owl:Class HP:0001917 biolink:NamedThing Renal amyloidosis A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). tmpxe7fu0cj_hp_relaxed.owl UMLS:C0268382|SNOMEDCT_US:48713002 In the kidney, amyloid deposits may be found in any of the parenchymal compartments, including glomeruli, tubules, interstitium and/or vessels. Glomeruli are most commonly involved. In most instances, amyloid accumulation involves the mesangium before the capillary walls. In early cases, the process can be subtle and involves only a few mesangial regions and therefore can easily be missed by routine histologic evaluation. More extensive involvement results in marked expansion of the mesangium, which can take on a nodular appearance and mimic mesangial sclerotic processes such as diabetic glomerulosclerosis. However, the often negative staining with PAS and JMS is more typical of amyloid. human_phenotype owl:Class UBERON:0018588 biolink:NamedThing upper first primary molar tooth tmpxe7fu0cj_hp_relaxed.owl upper primary tooth D|upper first deciduous molar tooth FMA:84211 TODO - tooth numbering nomeculature to be aligned across species uberon owl:Class UBERON:0018644 biolink:NamedThing deciduous molar tooth 1 tmpxe7fu0cj_hp_relaxed.owl deciduous molar 1|deciduous first molar tooth|first temporarary molar uberon owl:Class HP:0005934 biolink:NamedThing Imperfect vocal cord adduction tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025101 human_phenotype owl:Class HP:0009949 biolink:NamedThing Duplication of the middle phalanx of the 2nd finger Partial or complete duplication of the middle phalanx of index finger. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the middle phalanx of the 2nd finger|Partial/complete duplication of the middle bones of the index finger UMLS:C4021366 doelkens 2009-05-15T01:58:58Z human_phenotype owl:Class GO:0065008 biolink:NamedThing regulation of biological quality Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. tmpxe7fu0cj_hp_relaxed.owl regulation of biological attribute|regulation of biological characteristic biological_process owl:Class UBERON:0011137 biolink:NamedThing axial skeletal system Subdivision of the skeletal system which consists of the axial skeleton plus associated joints. tmpxe7fu0cj_hp_relaxed.owl FMA:7483 uberon http://purl.obolibrary.org/obo/uberon/docs/The-axial-skeleton owl:Class GO:1905553 biolink:NamedThing regulation of blood vessel branching Any process that modulates the frequency, rate or extent of blood vessel branching. tmpxe7fu0cj_hp_relaxed.owl regulation of branching involved in blood vessel morphogenesis nc 2016-10-12T14:19:33Z biological_process owl:Class UBERON:0003561 biolink:NamedThing forebrain dura mater A dura mater that is part of a forebrain. tmpxe7fu0cj_hp_relaxed.owl forebrain dura mater of neuraxis|dura mater of forebrain|dura mater of neuraxis of forebrain MA:0000885|EMAPA:17766|EMAPA:37545 uberon owl:Class HP:0001651 biolink:NamedThing Dextrocardia The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. tmpxe7fu0cj_hp_relaxed.owl Thoracic situs inversus|Heart tip and four chambers point towards right side of body UMLS:C0011813|ICD-10:Q24.0|EPCC:02.01.02|MSH:D003914|Fyler:0110|Fyler:110|SNOMEDCT_US:27637000 owl:Class HP:0033286 biolink:NamedThing Thickened glomerular basement membranes with electron dense deposits tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 21:12:16+00:00 peter owl:Class HP:0004722 biolink:NamedThing Thickened glomerular basement membrane Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:264932002|UMLS:C0445347 This finding is demonstrated on renal biopsy. Thickening of the glomerular basement membrane owl:Class NCBITaxon:554915 biolink:NamedThing Amoebozoa tmpxe7fu0cj_hp_relaxed.owl PMID:30257078|GC_ID:1|PMID:23020233 ncbi_taxonomy owl:Class GO:0002796 biolink:NamedThing positive regulation of antimicrobial peptide secretion Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide secretion. tmpxe7fu0cj_hp_relaxed.owl up-regulation of antimicrobial peptide secretion|activation of antimicrobial peptide secretion|upregulation of antimicrobial peptide secretion|stimulation of antimicrobial peptide secretion|up regulation of antimicrobial peptide secretion biological_process owl:Class HP:0009988 biolink:NamedThing Duplication of the distal phalanx of the 5th finger Partial or complete duplication of the distal phalanx of little finger. tmpxe7fu0cj_hp_relaxed.owl Duplication of the outermost little finger bone|Duplication of the outermost pinky finger bone|Duplication of the outermost pinkie finger bone|Partial/complete duplication of the distal phalanx of the 5th finger UMLS:C4021353 doelkens 2009-05-26T02:24:20Z human_phenotype owl:Class UBERON:0005656 biolink:NamedThing lens vesicle epithelium An epithelium that is part of a lens vesicle. tmpxe7fu0cj_hp_relaxed.owl EMAPA:17165|EHDAA2:0000987|VHOG:0000532 uberon owl:Class GO:0007043 biolink:NamedThing cell-cell junction assembly The aggregation, arrangement and bonding together of a set of components to form a junction between cells. tmpxe7fu0cj_hp_relaxed.owl intercellular junction assembly biological_process owl:Class HP:0011978 biolink:NamedThing Elevated urinary vanillylmandelic acid An increased concentration of vanillylmandelic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urinary vanillylmandelic acid UMLS:C4020735 peter 2012-07-18T09:11:52Z human_phenotype owl:Class HP:0004614 biolink:NamedThing Spina bifida occulta at S1 The closed form of spina bifida with incomplete closure of S1 with intact overlying skin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025304 human_phenotype owl:Class HP:0003298 biolink:NamedThing Spina bifida occulta The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0080174|SNOMEDCT_US:76916001|MSH:D016136 May be asymptomatic. human_phenotype owl:Class GO:1905458 biolink:NamedThing positive regulation of lymphoid progenitor cell differentiation Any process that activates or increases the frequency, rate or extent of lymphoid progenitor cell differentiation. tmpxe7fu0cj_hp_relaxed.owl up regulation of lymphoid progenitor cell differentiation|up-regulation of lymphoid progenitor cell differentiation|activation of lymphoid progenitor cell differentiation|upregulation of lymphoid progenitor cell differentiation rz 2016-09-16T12:32:55Z biological_process owl:Class GO:1905456 biolink:NamedThing regulation of lymphoid progenitor cell differentiation Any process that modulates the frequency, rate or extent of lymphoid progenitor cell differentiation. tmpxe7fu0cj_hp_relaxed.owl rz 2016-09-16T12:32:40Z biological_process owl:Class GO:1901700 biolink:NamedThing response to oxygen-containing compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. tmpxe7fu0cj_hp_relaxed.owl response to oxygen molecular entity pr 2012-12-13T15:11:37Z biological_process owl:Class HP:0010140 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the outermost bone of the big toe UMLS:C4024019 doelkens 2009-05-29T01:22:47Z human_phenotype owl:Class HP:0010115 biolink:NamedThing Cone-shaped epiphyses of the hallux tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the big toe bone UMLS:C4024044 doelkens 2009-05-29T01:16:38Z human_phenotype owl:Class HP:0012057 biolink:NamedThing Superficial spreading melanoma A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:55320002|SNOMEDCT_US:254730000|UMLS:C0334438 peter 2012-08-01T02:07:52Z human_phenotype owl:Class HP:0012056 biolink:NamedThing Cutaneous melanoma The presence of a melanoma of the skin. tmpxe7fu0cj_hp_relaxed.owl MSH:D008545|NCIT:C3224|UMLS:C0025202|SNOMEDCT_US:2092003|SNOMEDCT_US:372244006 The phenotypic presentation of melanomas is often described using the ABCDE mnemomic: A) Asymmetry; B) Borders of the lesion are irregular; C) Color changes from one area of the lesion to another, with shades of tan, brown, or black, and sometimes white, red, or blue; D) Diameter of the lesionis usually larger than 6 mm; E) Evolution of the appearance of the lesion with time. These rules do not, however, apply to every melanoma. peter 2012-08-01T02:04:21Z human_phenotype owl:Class GO:0002396 biolink:NamedThing MHC protein complex assembly The aggregation, arrangement and bonding together of a set of components to form an MHC protein complex. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0065003 biolink:NamedThing protein-containing complex assembly The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. tmpxe7fu0cj_hp_relaxed.owl cellular protein complex assembly|macromolecule complex assembly|protein complex assembly|protein complex formation|chaperone activity|cellular protein-containing complex assembly|cellular macromolecule complex assembly|macromolecular complex assembly https://github.com/geneontology/go-ontology/issues/22580 GO:0043623|GO:0006461|GO:0034622 biological_process owl:Class GO:0045664 biolink:NamedThing regulation of neuron differentiation Any process that modulates the frequency, rate or extent of neuron differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0011859 biolink:NamedThing internal acoustic meatus The internal auditory meatus (also internal acoustic meatus, internal auditory canal, and internal acoustic canal) is a canal in the petrous bone of the temporal bone of the skull that carries nerves from inside the cranium towards the middle and inner ear compartments namely cranial nerve VII and cranial nerve VIII. tmpxe7fu0cj_hp_relaxed.owl porus acusticus internus|internal auditory canal|internal acoustic meatus|internal acoustic canal|internal auditory meatus NCIT:C95443|FMA:53163|UMLS:C0149591 Alternate def: The internal acoustic meatus (or internal auditory meatus ) is an opening on the medial surface of the petrous temporal bone. It is through this passageway that the facial nerve (cranial nerve VII) and vestibulocochlear nerve (cranial nerve VIII) pass to reach their sites of innervation. The vestibulocochlear nerve divides at the internal acoustic meatus to continue as separate vestibular and cochlear components. [MURDOCH:908] uberon owl:Class UBERON:0013118 biolink:NamedThing sulcus of brain A depression or fissure in the surface of the brain. It surrounds the gyri, creating the characteristic appearance of the brain in humans and other large mammals. tmpxe7fu0cj_hp_relaxed.owl fissure of brain|cerebral sulcus|cerebral sulci|sulcus|sulci & spaces DHBA:10610|NCIT:C32292|HBA:9352 sulci are considered absent from lissencephalic mammals such as mice, but they may possess fissures. For example, the Allen mouse brain Atlas includes hippocampal, rhinal and choroid fissure. For this reason we do not place a taxon constraint on this class uberon owl:Class Indentation on the surface of the brain or spinal cord that forms a recognizable landmark, e.g., central sulcus, sulcus limitans (CUMBO) UBERON:0000093 biolink:NamedThing sulcus A depression or fissure in the surface of an organ. tmpxe7fu0cj_hp_relaxed.owl cjm 2009-04-09T06:23:22Z uberon owl:Class HP:0002205 biolink:NamedThing Recurrent respiratory infections An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. tmpxe7fu0cj_hp_relaxed.owl Recurrent respiratory infections|Susceptibility to respiratory infections|respiratory infections, recurrent|Multiple respiratory infections|Frequent respiratory infections UMLS:C3806482 HP:0002782|HP:0002873 human_phenotype owl:Class HP:0025678 biolink:NamedThing Fetal hydrothorax Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0025676 biolink:NamedThing Fetal pleural effusion Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops. tmpxe7fu0cj_hp_relaxed.owl With the ongoing evolution and more widespread use of obstetric ultrasound, fetal pleural effusions are being recognized more often and at earlier gestational ages. peterrobinson owl:Class GO:0002187 biolink:NamedThing mitochondrial creatine kinase complex An octomeric protein complex having creatine kinase activity. tmpxe7fu0cj_hp_relaxed.owl hjd 2011-06-14T02:15:29Z cellular_component owl:Class GO:0098798 biolink:NamedThing mitochondrial protein-containing complex A protein complex that is part of a mitochondrion. tmpxe7fu0cj_hp_relaxed.owl mitochondrial protein complex Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. cellular_component owl:Class HP:0010489 biolink:NamedThing Absent palmar crease The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease). tmpxe7fu0cj_hp_relaxed.owl Aplasia of the palmar creases|Absent palm lines|Absence of the palmar creases UMLS:C4021262 peter 2009-09-16T10:54:09Z human_phenotype owl:Class HP:0010488 biolink:NamedThing Aplasia/Hypoplasia of the palmar creases Absence or underdevelopment of the palmar creases. tmpxe7fu0cj_hp_relaxed.owl Absent/small palm crease|Absent/underdeveloped palm crease UMLS:C4023806 peter 2009-09-16T10:53:24Z human_phenotype owl:Class HP:0031433 biolink:NamedThing Alexithymia A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others. tmpxe7fu0cj_hp_relaxed.owl Unaware of others' emotions 2017-09-16 12:21:45+00:00 peter owl:Class HP:0000729 biolink:NamedThing Autistic behavior Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. tmpxe7fu0cj_hp_relaxed.owl ASD|Autistic behaviours|Autistic behaviors|Autism spectrum disorders|Autistic behaviour|Pervasive developmental disorder|Autism spectrum disorder UMLS:C1510586|MSH:D000067877|UMLS:C0856975 This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. human_phenotype owl:Class GO:0060405 biolink:NamedThing regulation of penile erection Any process that modulates the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0046669 biolink:NamedThing regulation of compound eye retinal cell programmed cell death Any process that modulates the frequency, rate or extent of programmed cell death that occurs in the compound eye retina. tmpxe7fu0cj_hp_relaxed.owl regulation of retinal cell programmed cell death biological_process owl:Class GO:0046668 biolink:NamedThing regulation of retinal cell programmed cell death Any process that modulates the frequency, rate or extent of programmed cell death that occurs in the retina. tmpxe7fu0cj_hp_relaxed.owl regulation of retinal programmed cell death biological_process owl:Class GO:0051969 biolink:NamedThing regulation of transmission of nerve impulse Any process that modulates the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. tmpxe7fu0cj_hp_relaxed.owl regulation of conduction of nerve impulse biological_process owl:Class HP:0000118 biolink:NamedThing Phenotypic abnormality A phenotypic abnormality. tmpxe7fu0cj_hp_relaxed.owl Organ abnormality UMLS:C4021819 This is the root of the phenotypic abnormality subontology of the HPO. human_phenotype owl:Class HP:0025092 biolink:NamedThing Epidermal acanthosis Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). tmpxe7fu0cj_hp_relaxed.owl Acanthosis|Acanthotic epidermis|Thickening of upper layer of skin 2016-10-24 01:14:11+00:00 Note that we use the prefered label 'Epidermal acanthocytosis' to distinguish this term from acanthocytosis of red blood cells. HPO:probinson owl:Class HP:0500185 biolink:NamedThing Abnormal CSF branched chain amino acid concentration Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal branched-chain amino acid levels in cerbrospinal fluid 2019-02-25 15:24:13+00:00 owl:Class HP:0410246 biolink:NamedThing Increased circulating IgD level An abnormally increased level of immunoglobulin D in blood. tmpxe7fu0cj_hp_relaxed.owl Increased levels of IgD|Elevated serum IgD|Elevated IgD|Increased serum IgD|Increased IgD level|IgD hypergammaglobulinemia 2018-10-12 20:43:48+00:00 owl:Class HP:0010702 biolink:NamedThing Increased circulating antibody level An increased level of gamma globulin (immunoglobulin) in the blood. tmpxe7fu0cj_hp_relaxed.owl Hypergammaglobulinaemia|Hyperglobulinemia|Increased immunoglobulin level|Increased serum gamma globulin|Elevated immunoglobulin levels|Raised immunoglobulin levels|Increased gamma globulin|Hypergammaglobulinemia|Increased antibody level in blood UMLS:C0151669|SNOMEDCT_US:127388009|MSH:D006942|UMLS:C0541985|UMLS:C2048011|UMLS:C0020455|UMLS:C1306857|SNOMEDCT_US:129646001 In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. peter 2010-03-22T08:20:07Z HP:0004435|HP:0002852|HP:0004314 human_phenotype owl:Class UBERON:0035105 biolink:NamedThing sac of scrotum Any of the two testis-carrying compartments of the scrotum. tmpxe7fu0cj_hp_relaxed.owl scrotal sac|testis comartment|scrotal comartment FMA:18251 uberon owl:Class MAXO:0001122 biolink:NamedThing kidney CT The use of computed tomography to produce images of structures of the kidney. tmpxe7fu0cj_hp_relaxed.owl renal CAT scan|CT of kidney|kidney CAT scan|renal CT|kidney CT examination|kidney computerized axial tomography|kidney computed tomography|CAT scan of kidney 2020-06-9T20:39:14Z http://orcid.org/0000-0001-7941-3010 owl:Class CL:2000019 biolink:NamedThing compound eye photoreceptor cell Any photoreceptor cell that is part of a compound eye. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-06-24T23:16:45Z cell owl:Class GO:0002921 biolink:NamedThing negative regulation of humoral immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of a humoral immune response. tmpxe7fu0cj_hp_relaxed.owl downregulation of humoral immune response|down regulation of humoral immune response|down-regulation of humoral immune response|inhibition of humoral immune response biological_process owl:Class HP:0001528 biolink:NamedThing Hemihypertrophy Overgrowth of only one side of the body. tmpxe7fu0cj_hp_relaxed.owl Asymmetric overgrowth|Asymmetric limb hypertrophy UMLS:C0332890|SNOMEDCT_US:205838004|SNOMEDCT_US:56007004 HP:0006416 human_phenotype owl:Class GO:0099156 biolink:NamedThing cell-cell signaling via exosome Cell-cell signaling in which the ligand is carried between cells by an exosome. tmpxe7fu0cj_hp_relaxed.owl exosome mediated dos 2017-07-05T16:40:45Z biological_process owl:Class HP:0007083 biolink:NamedThing Hyperactive patellar reflex tmpxe7fu0cj_hp_relaxed.owl Overactive knee reflex|Brisk knee jerk|Hyperreflexia in knees UMLS:C0240116 owl:Class UBERON:0004554 biolink:NamedThing hindlimb digital artery A digital artery that is part of a hindlimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hindlimb digital arteries|digital artery of foot FMA:69713|EMAPA:37214|MA:0001964 uberon owl:Class UBERON:0004552 biolink:NamedThing digital artery An artery that is part of a digit [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl MA:0001941|EMAPA:37076 check part_of - do we need term for digit + metacarpal/tarsal bones? uberon owl:Class HP:0100605 biolink:NamedThing Neoplasm of the larynx tmpxe7fu0cj_hp_relaxed.owl NCIT:C3262|UMLS:C0023055|MSH:D007822|SNOMEDCT_US:126692004 doelkens 2010-12-27T06:07:16Z human_phenotype owl:Class HP:0001600 biolink:NamedThing Abnormality of the larynx An abnormality of the larynx. tmpxe7fu0cj_hp_relaxed.owl Laryngeal anomalies|Laryngeal abnormalities UMLS:C4021777 owl:Class HP:0003041 biolink:NamedThing Humeroradial synostosis An abnormal osseous union (fusion) between the radius and the humerus. tmpxe7fu0cj_hp_relaxed.owl Synostosis of radius and humerus|Humeral radial synostosis|Humeral-radial synostosis|Radiohumeral synostosis of elbow|Fusion of upper and lower arm bones MSH:C535284|UMLS:C2930865|SNOMEDCT_US:205329008|UMLS:C1863360 HP:0003936 human_phenotype owl:Class HP:0100802 biolink:NamedThing Malposition of the stomach Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation. tmpxe7fu0cj_hp_relaxed.owl Abnormal stomach location|Gastric malposition|Gastric ectopia UMLS:C1402983 doelkens 2011-06-09T11:52:49Z human_phenotype owl:Class HP:0002577 biolink:NamedThing Abnormal stomach morphology An abnormality of the stomach. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the stomach UMLS:C4025699 The stomach is the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine. owl:Class GO:0030219 biolink:NamedThing megakaryocyte differentiation The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. tmpxe7fu0cj_hp_relaxed.owl megakaryocyte cell differentiation biological_process owl:Class HP:0030049 biolink:NamedThing Brain abscess A collection of pus, immune cells, and other material in the brain. tmpxe7fu0cj_hp_relaxed.owl Brain abscess MSH:D001922|SNOMEDCT_US:441806004|UMLS:C0006105 Brain abscess usually results from a bacterial or fungal infection. owl:Class UBERON:0009201 biolink:NamedThing nephric duct A nephric duct is a tube that drains a primitive kidney[GO]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:16577 pronephric duct or mesonephric duct uberon owl:Class UBERON:0006553 biolink:NamedThing renal duct A tube in the kidney that collect and transport urine. tmpxe7fu0cj_hp_relaxed.owl TAO:0005289|ZFA:0005289 uberon owl:Class in ZFA this is defined as part of mesonephros HP:0030050 biolink:NamedThing Narcolepsy An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis. tmpxe7fu0cj_hp_relaxed.owl MSH:D009290|UMLS:C0027404|SNOMEDCT_US:60380001 There are two distinct groups of patients with narcolepsy, ie, those having narcolepsy with cataplexy and those having narcolepsy without cataplexy. owl:Class HP:0030347 biolink:NamedThing Abnormal circulating androgen level An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072892 owl:Class UBERON:0002290 biolink:NamedThing choroid plexus of fourth ventricle Choroid plexus of the fourth ventricle. tmpxe7fu0cj_hp_relaxed.owl chorioid plexus of fourth ventricle|4th ventricle choroid plexus|choroid plexus fourth ventricle|fourth ventricle choroid plexus|fourth ventricle chorioid plexus of cerebral hemisphere|chorioid plexus of cerebral hemisphere of fourth ventricle EMAPA:32742|NCIT:C32308|VHOG:0001375|DHBA:12808|NLX:27388|BAMS:chp4|HBA:9710|FMA:78492|TAO:0001446|ZFA:0001446|BAMS:cp4v|UMLS:C0152293|MA:0000983 uberon owl:Class UBERON:0001886 biolink:NamedThing choroid plexus A network formed by blood vessels and the tela choroidea which secretes CSF into the ventricular spaces. tmpxe7fu0cj_hp_relaxed.owl CP|chorioid plexus|plexus choroideus|choroid plexus of cerebral hemisphere|ventricular choroid plexus EFO:0001915|EMAPA:32741|BAMS:CHP|GAID:607|CALOHA:TS-0145|NCIT:C12694|TAO:0001443|MBA:108|UMLS:C0008524|BAMS:chpl|FMA:61934|ZFA:0001443|VHOG:0001377|MA:0000823|BAMS:GHP|BAMS:chp|BTO:0000258|MESH:D002831 http://upload.wikimedia.org/wikipedia/commons/b/b9/Gray708.svg TODO - check relationship to ventricle. Check subclass - ZFA says vasculature. Note that FMA:61934 (choroid plexus of cerebral hemisphere) has exact synonym 'choroid plexus' but it is not clear that this belongs here, as the fourth ventricle is not in the cerebral hemisphere uberon owl:Class Fringe of the tela choroidea of the brain ventricles[MP]|A tuft of capillaries that project into the ventricles of the brain and secretes cerebral spinal fluid. The choroid plexus is covered by a cuboidal epithelium which maintains the integrity of the blood-brain barrier.[TAO] choroidal HP:0010937 biolink:NamedThing Abnormality of the nasal skeleton An abnormality of the nasal skeleton. tmpxe7fu0cj_hp_relaxed.owl Distortion of the bones of the nose|Malformation of the bones of the nose|Abnormality of the nasal skeleton|Distortion of the nasal skeleton|Deformity of the bones of the nose|Malformation of the nasal skeleton|Deformity of the nasal skeleton|Anomaly of the nasal skeleton UMLS:C4280361|UMLS:C4023639 peter 2011-01-16T02:19:38Z owl:Class GO:1900046 biolink:NamedThing regulation of hemostasis Any process that modulates the frequency, rate or extent of hemostasis. tmpxe7fu0cj_hp_relaxed.owl jl 2012-01-19T03:23:38Z biological_process owl:Class HP:0011797 biolink:NamedThing Papillary renal cell carcinoma type 1 A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1336839 peter 2012-04-22T08:03:34Z human_phenotype owl:Class HP:0006766 biolink:NamedThing Papillary renal cell carcinoma The presence of renal cell carcinoma in the renal papilla. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1306837|NCIT:C2916|MSH:D002292 HP:0006776 human_phenotype owl:Class HP:0007190 biolink:NamedThing Neuronal loss in the cerebral cortex tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849485 owl:Class GO:0098794 biolink:NamedThing postsynapse The part of a synapse that is part of the post-synaptic cell. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0009433 biolink:NamedThing Osteolytic defects of the middle phalanx of the 3rd finger Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024365 doelkens 2009-01-14T03:41:31Z human_phenotype owl:Class UBERON:0018562 biolink:NamedThing lower secondary canine tooth A secondary canine tooth that is part of a lower jaw region. tmpxe7fu0cj_hp_relaxed.owl permanent lower canine tooth|lower permanent canine tooth|mandibular secondary canine tooth FMA:55715 uberon owl:Class UBERON:0018584 biolink:NamedThing secondary canine tooth tmpxe7fu0cj_hp_relaxed.owl permanent canine tooth FMA:84203 uberon owl:Class UBERON:0014532 biolink:NamedThing white matter lamina of cerebral hemisphere tmpxe7fu0cj_hp_relaxed.owl lamina of cerebral hemisphere|cerebral hemisphere lamina FMA:67951 uberon owl:Class UBERON:0010675 biolink:NamedThing manual digit 1 phalanx cartilage element A cartilage element that is part of a manual digit 1 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl hand digit 1 phalanx cartilage element|manual digit I phalanx cartilage element|fore limb digit 1 phalanx cartilage condensation EMAPA:18066 uberon owl:Class HP:0003217 biolink:NamedThing Hyperglutaminemia An increased concentration of glutamine in the blood. tmpxe7fu0cj_hp_relaxed.owl High plasma glutamine UMLS:C1839533 Normal glutamine blood levels are around 550-600 micromole per liter. human_phenotype owl:Class HP:0010903 biolink:NamedThing Abnormal circulating glutamine concentration Any deviation from the normal concentration of glutamine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023663 Glutamine is a charge-neutral, polar amino acid. peter 2010-12-03T04:31:22Z human_phenotype owl:Class HP:0007687 biolink:NamedThing Unilateral ptosis A unilateral form of ptosis. tmpxe7fu0cj_hp_relaxed.owl Dropping of one upper eyelid UMLS:C1866806 human_phenotype owl:Class HP:0000508 biolink:NamedThing Ptosis The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). tmpxe7fu0cj_hp_relaxed.owl Blepharoptosis|Drooping upper eyelid|Eyelid ptosis|Eye drop SNOMEDCT_US:11934000|MSH:D001763|UMLS:C0005745 human_phenotype owl:Class CL:2000008 biolink:NamedThing microvascular endothelial cell Any blood vessel endothelial cell that is part of a microvascular endothelium. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-06-04T15:07:42Z cell owl:Class GO:0090316 biolink:NamedThing positive regulation of intracellular protein transport Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells. tmpxe7fu0cj_hp_relaxed.owl tb 2010-04-16T03:45:07Z biological_process owl:Class HP:0009296 biolink:NamedThing Bullet-shaped middle phalanx of the 4th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped middle bone of the 4th finger UMLS:C4024462 doelkens 2009-01-08T04:59:22Z human_phenotype owl:Class HP:0010019 biolink:NamedThing Fragmentation of the epiphysis of the 1st metacarpal Epiphysis of the 1st metacarpal having multiple bony fragments. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the 1st long bone of hand UMLS:C4024104 doelkens 2009-05-27T04:02:50Z human_phenotype owl:Class GO:1904750 biolink:NamedThing negative regulation of protein localization to nucleolus Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to nucleolus. tmpxe7fu0cj_hp_relaxed.owl down-regulation of protein localization in nucleolus|inhibition of protein localization to nucleolus|down regulation of protein localization in nucleolus|downregulation of protein localization to nucleolus|down regulation of protein localisation to nucleolus|down regulation of protein localisation in nucleolus|down-regulation of protein localization to nucleolus|inhibition of protein localisation to nucleolus|down-regulation of protein localisation to nucleolus|inhibition of protein localization in nucleolus|downregulation of protein localisation to nucleolus|negative regulation of protein localisation to nucleolus|down-regulation of protein localisation in nucleolus|downregulation of protein localisation in nucleolus|inhibition of protein localisation in nucleolus|negative regulation of protein localisation in nucleolus|down regulation of protein localization to nucleolus|downregulation of protein localization in nucleolus|negative regulation of protein localization in nucleolus nc 2015-10-19T15:16:24Z biological_process owl:Class GO:1900181 biolink:NamedThing negative regulation of protein localization to nucleus Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to nucleus. tmpxe7fu0cj_hp_relaxed.owl down regulation of protein localization in nucleus|downregulation of protein localization to nucleus|inhibition of protein localization to nucleus|down-regulation of protein localisation to nucleus|negative regulation of protein localisation to nucleus|down regulation of protein localization in cell nucleus|downregulation of protein localisation to nucleus|down regulation of protein localisation to nucleus|negative regulation of protein localization in nucleus|negative regulation of protein localization in cell nucleus|down regulation of protein localization to nucleus|downregulation of protein localization in nucleus|downregulation of protein localization in cell nucleus|down-regulation of protein localization in cell nucleus|inhibition of protein localization in nucleus|down-regulation of protein localization to nucleus|inhibition of protein localization in cell nucleus|inhibition of protein localisation to nucleus|down-regulation of protein localization in nucleus bf 2012-03-12T01:23:48Z biological_process owl:Class UBERON:0007241 biolink:NamedThing tunica adventitia of vein A tunica adventitia that is part of a vein. tmpxe7fu0cj_hp_relaxed.owl tunica externa (adventitia)(venae)|venous adventitia EMAPA:36310|EV:0100034|FMA:14355|SCTID:13202006 uberon owl:Class UBERON:0005734 biolink:NamedThing tunica adventitia of blood vessel The outermost layer of a blood vessel, composed mainly of fibrous tissue. tmpxe7fu0cj_hp_relaxed.owl tunica adventitia|tunica externa vasorum|adventitia externa|external coat|tunica adventitia of vessel|tunica adventitia vasorum SCTID:61066005|BTO:0002010|NCIT:C33818|UMLS:C0225342|EMAPA:36299|Wikipedia:Tunica_externa_(vessels) Illu:artery.jpg TODO - note terminological problems. WP says tunica external layer of blood vessel. FMA says tunica externa = adventitia, and is FMA adventitia covers other kinds of vessels. Here we opt for a lengthier name that attempts to disambiguate. There is no precise FMA equivalent, as FMA has tunica externa of arteries, veins, genital ducts etc as siblings uberon owl:Class The outermost layer of a blood vessel, surrounding the tunica media. It is mainly composed of collagen. The collagen serves to anchor the blood vessel to nearby organs, giving it stability[Wikipedia:Tunica_externa_(vessels)]. GO:1901220 biolink:NamedThing negative regulation of cardiac chamber morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of cardiac chamber morphogenesis. tmpxe7fu0cj_hp_relaxed.owl inhibition of heart chamber morphogenesis|down regulation of cardiac chamber morphogenesis|inhibition of cardiac chamber morphogenesis|down-regulation of heart chamber morphogenesis|downregulation of cardiac chamber morphogenesis|downregulation of heart chamber morphogenesis|negative regulation of heart chamber morphogenesis|down-regulation of cardiac chamber morphogenesis|down regulation of heart chamber morphogenesis rl 2012-08-06T17:59:34Z biological_process owl:Class GO:1903706 biolink:NamedThing regulation of hemopoiesis Any process that modulates the frequency, rate or extent of hemopoiesis. tmpxe7fu0cj_hp_relaxed.owl regulation of blood cell biosynthesis|regulation of blood cell formation|regulation of hematopoiesis|regulation of haemopoiesis An example of this is Atg7 in mouse (UniProt symbol, Q9D906) in PMID:20080761, inferred from mutant phenotype. pad 2014-12-04T15:34:13Z biological_process owl:Class UBERON:0008585 biolink:NamedThing levator veli palatini The levator veli palatini is the elevator muscle of the velum palatinum in the human body. During swallowing, it contracts, elevating the soft palate to help prevent food from entering the nasopharynx. It is innervated via the pharyngeal plexus, primarily by the vagus nerve (CN X). The levator veli palatini (Levator palati) is a thick, rounded muscle situated lateral to the choanC&. It arises from the under surface of the apex of the petrous part of the temporal bone and from the medial lamina of the cartilage of the auditory tube. After passing above the upper concave margin of the Constrictor pharyngis superior it spreads out in the palatine velum, its fibers extending obliquely downward and medially to the middle line, where they blend with those of the opposite side. tmpxe7fu0cj_hp_relaxed.owl levator veli palatini muscle|levator veli|levator velum palatini muscle|levator palati|musculus levator veli palatini FMA:46727 http://upload.wikimedia.org/wikipedia/commons/a/a5/Musculuslevatorvelipalatini.png uberon owl:Class The levator veli palatini is part of the soft palate that attaches to the cranial base, pharyngotympanic tube and the soft palate and is innervated by Cranial Nerve X via the pharyngeal plexus.[FEED] UBERON:0003682 biolink:NamedThing palatal muscle The muscles of the palate are the glossopalatine, palatoglossus, levator palati(ni), musculus uvulae, palatopharyngeus, and tensor palati(ni). tmpxe7fu0cj_hp_relaxed.owl palatal muscle|musculi palati mollis et faucium|palatine muscle|muscle of palate|palate muscle FMA:46726|MESH:D010156|GAID:151|NCIT:C33247|UMLS:C0030213|EMAPA:37929 http://upload.wikimedia.org/wikipedia/commons/c/c7/Gray1028.png consider extra class for fauces uberon owl:Class see also FMA:71438 ! set of muscles of soft palate and fauces GO:1902680 biolink:NamedThing positive regulation of RNA biosynthetic process Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl up-regulation of RNA biosynthetic process|activation of RNA synthesis|upregulation of RNA formation|upregulation of RNA synthesis|positive regulation of RNA synthesis|positive regulation of RNA anabolism|up-regulation of RNA anabolism|upregulation of RNA anabolism|up regulation of RNA biosynthetic process|activation of RNA anabolism|upregulation of RNA biosynthesis|activation of RNA biosynthesis|up-regulation of RNA synthesis|up regulation of RNA synthesis|upregulation of RNA biosynthetic process|positive regulation of RNA biosynthesis|activation of RNA biosynthetic process|up regulation of RNA biosynthesis|up-regulation of RNA formation|up-regulation of RNA biosynthesis|up regulation of RNA formation|activation of RNA formation|positive regulation of RNA formation|up regulation of RNA anabolism jl 2014-02-05T16:32:10Z biological_process owl:Class HP:0100812 biolink:NamedThing Halitosis Noticeably unpleasant odors exhaled in breathing. tmpxe7fu0cj_hp_relaxed.owl Bad breath|Foetor ex ore MEDDRA:10006326|UMLS:C0018520|SNOMEDCT_US:79879001|MSH:D006209 doelkens 2011-06-09T02:00:42Z owl:Class NCBITaxon:7776 biolink:NamedThing Gnathostomata tmpxe7fu0cj_hp_relaxed.owl jawed vertebrates|Gnathostomata GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7742 biolink:NamedThing Vertebrata tmpxe7fu0cj_hp_relaxed.owl Vertebrata|vertebrates GC_ID:1 ncbi_taxonomy owl:Class HP:0012440 biolink:NamedThing Abnormal biliary tract morphology A structural abnormality of the biliary tree. tmpxe7fu0cj_hp_relaxed.owl Anomaly of the biliary tract UMLS:C4021086 peter 2013-11-23T02:15:33Z human_phenotype owl:Class HP:0006008 biolink:NamedThing Unilateral brachydactyly tmpxe7fu0cj_hp_relaxed.owl Short digits on one side UMLS:C1868164|UMLS:C4280467 human_phenotype owl:Class HP:0001156 biolink:NamedThing Brachydactyly Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. tmpxe7fu0cj_hp_relaxed.owl Short fingers or toes|Brachydactyly syndrome MSH:D059327|UMLS:C0221357|SNOMEDCT_US:43476002 HP:0001201|HP:0005630|HP:0005727|HP:0005657|HP:0006017|HP:0006128|HP:0001189|HP:0100667 human_phenotype owl:Class NCBITaxon:2157 biolink:NamedThing Archaea tmpxe7fu0cj_hp_relaxed.owl Mendosicutes|prokaryote|prokaryotes|Prokaryota|Metabacteria|archaea|Prokaryotae|Archaebacteria|Procaryotae|Monera PMID:10425796|PMID:11540071|PMID:10939677|PMID:11760965|PMID:9103655|PMID:25527841|PMID:11321113|PMID:270744|PMID:12054223|PMID:10425795|PMID:10939673|PMID:2112744|PMID:10939651|PMID:11542149|PMID:10490293|PMID:11211268|PMID:10425797|PMID:8590690|PMID:9336922|PMID:11321083|GC_ID:11|PMID:11542064|PMID:11411719|PMID:8123559|PMID:10843050|PMID:11541975 ncbi_taxonomy owl:Class GO:0045744 biolink:NamedThing negative regulation of G protein-coupled receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of G protein-coupled receptor signaling pathway. tmpxe7fu0cj_hp_relaxed.owl negative regulation of G-protein-coupled receptor protein signalling pathway|negative regulation of GPCR protein signaling pathway|negative regulation of G-protein coupled receptor protein signalling pathway|inhibition of G-protein coupled receptor protein signaling pathway|down-regulation of G-protein coupled receptor protein signaling pathway|negative regulation of GPCR protein signalling pathway|down regulation of G-protein coupled receptor protein signaling pathway|negative regulation of G protein coupled receptor protein signaling pathway|negative regulation of G protein coupled receptor protein signalling pathway|downregulation of G-protein coupled receptor protein signaling pathway|negative regulation of G-protein coupled receptor protein signaling pathway biological_process owl:Class GO:0008277 biolink:NamedThing regulation of G protein-coupled receptor signaling pathway Any process that modulates the frequency, rate or extent of G protein-coupled receptor signaling pathway. tmpxe7fu0cj_hp_relaxed.owl regulation of G-protein coupled receptor protein signaling pathway|regulation of GPCR protein signaling pathway|regulation of G-protein coupled receptor protein signalling pathway|regulation of G protein coupled receptor protein signaling pathway|regulation of G protein coupled receptor protein signalling pathway|regulation of G-protein-coupled receptor protein signalling pathway|regulation of GPCR protein signalling pathway biological_process owl:Class HP:0030130 biolink:NamedThing Impaired von Willibrand factor collagen binding activity Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022618 This abnormality may be seen in von Willibrand disease type 1, type 2A, type 2B, and type 3. owl:Class GO:1902864 biolink:NamedThing negative regulation of embryonic camera-type eye development Any process that stops, prevents or reduces the frequency, rate or extent of embryonic camera-type eye development. tmpxe7fu0cj_hp_relaxed.owl inhibition of embryonic eye development|inhibition of embryonic camera-type eye development|negative regulation of embryonic eye development|downregulation of embryonic eye development|down regulation of embryonic eye development|down-regulation of embryonic camera-type eye development|down regulation of embryonic camera-type eye development|down-regulation of embryonic eye development|downregulation of embryonic camera-type eye development mr 2014-04-03T15:24:06Z biological_process owl:Class GO:1902863 biolink:NamedThing regulation of embryonic camera-type eye development Any process that modulates the frequency, rate or extent of embryonic camera-type eye development. tmpxe7fu0cj_hp_relaxed.owl regulation of embryonic eye development mr 2014-04-03T15:24:00Z biological_process owl:Class GO:0032370 biolink:NamedThing positive regulation of lipid transport Any process that activates or increases the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl stimulation of lipid transport|up-regulation of lipid transport|activation of lipid transport|upregulation of lipid transport|up regulation of lipid transport biological_process owl:Class HP:0001605 biolink:NamedThing Vocal cord paralysis A loss of the ability to move the vocal folds. tmpxe7fu0cj_hp_relaxed.owl Inability to move vocal cords|Laryngeal paralysis SNOMEDCT_US:302912005|UMLS:C1854345|UMLS:C0042928|MSH:D014826 Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties. HP:0006847|HP:0001606 human_phenotype owl:Class HP:0003470 biolink:NamedThing Paralysis Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. tmpxe7fu0cj_hp_relaxed.owl Paralysis|Inability to move UMLS:C0522224|SNOMEDCT_US:44695005|MSH:D010243 owl:Class HP:0002500 biolink:NamedThing Abnormal cerebral white matter morphology An abnormality of the cerebral white matter. tmpxe7fu0cj_hp_relaxed.owl White matter alterations|Abnormality of subcortical white matter|Leukoaraiosis|Cortical white matter abnormalities seen on MRI|Cerebral white matter abnormalities|White matter abnormalities|Abnormality of the cerebral white matter UMLS:C4020851|MSH:D049292|UMLS:C0948163 This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex. HP:0200100 human_phenotype owl:Class HP:0009392 biolink:NamedThing Triangular epiphyses of the 5th finger A triangular appearance of the epiphyses of the 5th finger of the hand. tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the pinkie finger|Triangular end part of the pinky finger|Delta-shaped epiphyses of the 5th finger|Triangular end part of the little finger UMLS:C4021483 doelkens 2009-01-13T01:19:03Z human_phenotype owl:Class HP:0003249 biolink:NamedThing Genital ulcers tmpxe7fu0cj_hp_relaxed.owl Genital ulcers UMLS:C0151281 human_phenotype owl:Class UBERON:0015790 biolink:NamedThing autopod skin A zone of skin that is part of a autopod region. tmpxe7fu0cj_hp_relaxed.owl paw skin MA:0003120|EMAPA:32723 uberon owl:Class HP:0025708 biolink:NamedThing Early young adult onset Onset of disease at an age of greater than or equal to 16 to under 19 years. tmpxe7fu0cj_hp_relaxed.owl This term includes the full 16th year of age up to the completed 18th year of age (i.e., less than the 19th birthday). peterrobinson owl:Class HP:0011462 biolink:NamedThing Young adult onset Onset of disease at the age of between 16 and 40 years. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3554568 peter 2012-03-25T07:01:15Z owl:Class CHEBI:52217 biolink:NamedThing pharmaceutical Any substance introduced into a living organism with therapeutic or diagnostic purpose. tmpxe7fu0cj_hp_relaxed.owl pharmaceuticals|medicament|farmaco CHEBI:33294|CHEBI:33293 chebi_ontology owl:Class HP:0031334 biolink:NamedThing Cardiomyocyte inclusion bodies Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 13:18:12+00:00 peter owl:Class HP:0031331 biolink:NamedThing Abnormal cardiomyocyte morphology Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue. tmpxe7fu0cj_hp_relaxed.owl Abnormal cardiac muscle cell morphology 2017-08-27 12:50:02+00:00 peter owl:Class UBERON:0003415 biolink:NamedThing mesenchyme of nasal septum Mesenchyme that is part of a developing nasal septum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nasal septum mesenchyme EMAPA:18443|FMA:312700 uberon owl:Class HP:0000265 biolink:NamedThing Mastoiditis tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:52404001|UMLS:C0024904|MSH:D008417 human_phenotype owl:Class GO:0031944 biolink:NamedThing negative regulation of glucocorticoid metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0011988 biolink:NamedThing Ectopic ossification in tendon tissue Formation of abnormal bony tissue within tendon tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023095 peter 2012-07-19T10:47:01Z human_phenotype owl:Class HP:0011986 biolink:NamedThing Ectopic ossification Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist. tmpxe7fu0cj_hp_relaxed.owl Heterotopic ossification|Ectopic bone formation MEDDRA:10065453|MSH:D009999|SNOMEDCT_US:128491006|UMLS:C0029396 peter 2012-07-19T10:38:25Z human_phenotype owl:Class GO:0010713 biolink:NamedThing negative regulation of collagen metabolic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the metabolism of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:16015 biolink:NamedThing L-glutamic acid An optically active form of glutamic acid having L-configuration. tmpxe7fu0cj_hp_relaxed.owl glutamic acid|GLUTAMIC ACID|Glutamate|acide glutamique|(S)-2-aminopentanedioic acid|L-Glu|acido glutamico|L-glutamic acid|L-Glutaminic acid|acidum glutamicum|Glu|(2S)-2-aminopentanedioic acid|(S)-glutamic acid|E|L-Glutamic acid|L-Glutaminsaeure 0 C5H9NO4 InChI=1S/C5H9NO4/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H,7,8)(H,9,10)/t3-/m0/s1 WHUUTDBJXJRKMK-VKHMYHEASA-N 147.12930 147.05316 N[C@@H](CCC(O)=O)C(O)=O PMID:22219301|PMID:15739367|Wikipedia:L-Glutamic_Acid|PMID:16892196|KEGG:C00025|PMID:16719819|Beilstein:1723801|Gmelin:3502|KEGG:D00007|PMID:22735334|PDBeChem:GLU_LFOH|DrugBank:DB00142|PMID:19581495|BPDB:2297|LINCS:LSM-36375|KNApSAcK:C00001358|Reaxys:1723801|HMDB:HMDB0000148|MetaCyc:GLT|PMID:15930465|Drug_Central:1310|CAS:56-86-0 CHEBI:21304|CHEBI:42825|CHEBI:6224 chebi_ontology owl:Class CHEBI:24318 biolink:NamedThing glutamine family amino acid An L-alpha-amino acid which is L-glutamic acid or any of the essential amino acids biosynthesised from it (glutamine, proline and arginine). A closed class. tmpxe7fu0cj_hp_relaxed.owl glutamine family amino acids PMID:20716061 chebi_ontology owl:Class HP:0002414 biolink:NamedThing Spina bifida Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. tmpxe7fu0cj_hp_relaxed.owl Split spine UMLS:C0080178|MSH:D016135|SNOMEDCT_US:67531005|Fyler:4157 owl:Class HP:0012559 biolink:NamedThing Increased T3/T4 ratio A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022846 peter 2014-01-04T01:52:59Z human_phenotype owl:Class HP:0012558 biolink:NamedThing Abnormal T3/T4 ratio A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022847 peter 2014-01-04T01:50:30Z human_phenotype owl:Class UBERON:0001958 biolink:NamedThing terminal bronchiole epithelium An epithelium that lines a terminal bronchiole. tmpxe7fu0cj_hp_relaxed.owl terminal bronchiole epithelium|epithelial tissue of bronchiolus terminalis|terminal bronchiole epithelial tissue|epithelium of bronchiolus terminalis|bronchiolus terminalis epithelium|epithelium of terminal bronchiole|epithelial tissue of terminal bronchiole|bronchiolus terminalis epithelial tissue MA:0001774|FMA:62794|NCIT:C33755|EMAPA:36283|UMLS:C1179400 uberon owl:Class A pseudostratified epithelium, containing basal cells, stem cells of the airway, submucosal glands and cartilage rings, is limited to the trachea and large lobar airways in the mouse (Morrisey and Hogan, 2010). This more complex epithelium extends to terminal bronchioles in the human[DOI:10.1242/dev.115469] PR:000007858 biolink:NamedThing endothelial transcription factor GATA-2 A protein that is a translation product of the human GATA2 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl GATA-binding protein 2|GATA2 Category=gene. Requested by=CL. protein owl:Class HP:0008796 biolink:NamedThing Externally rotated hips tmpxe7fu0cj_hp_relaxed.owl Externally rotated hips UMLS:C1846339 human_phenotype owl:Class HP:0003783 biolink:NamedThing Externally rotated/abducted legs tmpxe7fu0cj_hp_relaxed.owl UMLS:C1970461 human_phenotype owl:Class HP:0033138 biolink:NamedThing Right atrial thrombus A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart. tmpxe7fu0cj_hp_relaxed.owl 2020-09-09 13:51:57+00:00 peter owl:Class HP:0032017 biolink:NamedThing Sputum eosinophilia An increased proportion of eosinophils in sputum in the differentiated cell count. tmpxe7fu0cj_hp_relaxed.owl 2018-08-25 12:39:58+00:00 Sputum eosinophilia can be measured in various ways including measuing the mean percentage of eosinophils in the cell count of sputum induced by application of saline. The threshold chosen differs between studies, typically ranging from 1.25 to 3 percent. Increased sputum eosinophil counts may indicate a risk for severe chronic obstructive pulmonary disease or severe asthma. peter owl:Class HP:0032016 biolink:NamedThing Abnormal sputum Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin. tmpxe7fu0cj_hp_relaxed.owl Abnormal sputum morphology 2018-08-25 12:36:36+00:00 peter owl:Class GO:0002318 biolink:NamedThing myeloid progenitor cell differentiation The process in which a precursor cell type acquires the specialized features of a myeloid progenitor cell. Myeloid progenitor cells include progenitor cells for any of the myeloid lineages. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100199 biolink:NamedThing Small epiphysis of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Small end part of the innermost bone of the 4th toe UMLS:C4022222 doelkens 2010-06-24T04:54:59Z human_phenotype owl:Class GO:0008348 biolink:NamedThing negative regulation of antimicrobial humoral response Any process that stops, prevents, or reduces the frequency, rate, or extent of an antimicrobial humoral response. tmpxe7fu0cj_hp_relaxed.owl inhibition of antimicrobial humoral response|down regulation of antimicrobial humoral response|downregulation of antimicrobial humoral response|down-regulation of antimicrobial humoral response|attenuation of antimicrobial humoral response GO:0042154|GO:0042155 biological_process owl:Class GO:0003857 biolink:NamedThing 3-hydroxyacyl-CoA dehydrogenase activity Catalysis of the reaction: (S)-3-hydroxyacyl-CoA + NAD+ = 3-oxoacyl-CoA + NADH + H(+). tmpxe7fu0cj_hp_relaxed.owl beta-hydroxyacyl dehydrogenase activity|beta-hydroxyacylcoenzyme A dehydrogenase activity|L-3-hydroxyacyl coenzyme A dehydrogenase activity|beta-hydroxyacyl-coenzyme A synthetase activity|beta-ketoacyl-CoA reductase|beta-keto-reductase activity|3-oxoacyl-thioester reductase activity|beta-hydroxybutyrylcoenzyme A dehydrogenase activity|L-3-hydroxyacyl CoA dehydrogenase activity Reactome:R-HSA-508369|Reactome:R-HSA-77283|Reactome:R-HSA-390251|Reactome:R-HSA-193508|RHEA:22432|Reactome:R-HSA-77331|UM-BBD_enzymeID:e0664|Reactome:R-HSA-77254|MetaCyc:OHACYL-COA-DEHYDROG-RXN|Reactome:R-HSA-6809264|Reactome:R-HSA-389995|Reactome:R-HSA-77312|Reactome:R-HSA-77323|Reactome:R-HSA-193455|EC:1.1.1.35|Reactome:R-HSA-77342|Reactome:R-HSA-70837|Reactome:R-HSA-77303 See also 'long-chain-3-hydroxyacyl-CoA dehydrogenase activity ; GO:0016509'. molecular_function owl:Class GO:0016616 biolink:NamedThing oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP. tmpxe7fu0cj_hp_relaxed.owl glyoxylic acid reductase|NADH-dependent glyoxylate reductase|glycolate reductase EC:1.1.1.-|Reactome:R-HSA-975629 molecular_function owl:Class GO:1990010 biolink:NamedThing compound eye retinal cell apoptotic process Any apoptotic process in a compound eye retinal cell. tmpxe7fu0cj_hp_relaxed.owl pr 2012-12-12T10:21:07Z biological_process owl:Class GO:1990009 biolink:NamedThing retinal cell apoptotic process Any apoptotic process in a retinal cell. tmpxe7fu0cj_hp_relaxed.owl induction of retinal programmed cell death pr 2012-12-12T10:15:08Z GO:0046674 biological_process owl:Class GO:0042321 biolink:NamedThing negative regulation of circadian sleep/wake cycle, sleep Any process that stops, prevents or reduces the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. tmpxe7fu0cj_hp_relaxed.owl inhibition of circadian sleep/wake cycle, sleep|downregulation of circadian sleep/wake cycle, sleep|down-regulation of circadian sleep/wake cycle, sleep|negative regulation of sleep|down regulation of circadian sleep/wake cycle, sleep biological_process owl:Class HP:0006501 biolink:NamedThing Aplasia/Hypoplasia of the radius A small/hypoplastic or absent/aplastic radius. tmpxe7fu0cj_hp_relaxed.owl Absence or underdevelopment of the radius bone of the arm|Absent/small radius|Absent/underdeveloped radius|Radial aplasia/hypoplasia UMLS:C2749463 peter 2008-03-28T06:32:00Z HP:0005718 human_phenotype owl:Class HP:0006503 biolink:NamedThing Aplasia/hypoplasia involving forearm bones Absence (due to failure to form) or underdevelopment of one or more forearm bones. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped forearm bones|Absent/small forearm bones UMLS:C4025032 peter 2008-03-28T06:45:00Z human_phenotype owl:Class HP:0006929 biolink:NamedThing Hypoglycemic encephalopathy Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:64624009|UMLS:C0149877 human_phenotype owl:Class CHEBI:63353 biolink:NamedThing disaccharide derivative A carbohydrate derivative that is formally obtained from a disaccharide. tmpxe7fu0cj_hp_relaxed.owl disaccharide derivatives chebi_ontology owl:Class GO:0001677 biolink:NamedThing formation of translation initiation ternary complex Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). tmpxe7fu0cj_hp_relaxed.owl translation initiation ternary complex assembly biological_process owl:Class GO:0022618 biolink:NamedThing ribonucleoprotein complex assembly The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. tmpxe7fu0cj_hp_relaxed.owl protein-RNA complex assembly|RNP complex assembly|RNA-protein complex assembly biological_process owl:Class HP:0030036 biolink:NamedThing Isothenuria Inability of the kidneys to produce either concentrated or dilute urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022665 Isothenuria is seen in the final stages of renal failure. It reflects rapid flushing of fluid through the tubules in renal failure as the number of functioning nephrons decreases; the normal concentrating (particularly) and diluting mechanisms of the kidney do not have time to function. The consequence is that the specific gravity of the urine becomes approximately the same as that of the glomerular filtrate. owl:Class UBERON:0003651 biolink:NamedThing metatarsal bone of digit 2 A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 2. tmpxe7fu0cj_hp_relaxed.owl metatarsal bone digit 2|foot digit 2 metatarsal bone|hindlimb digit 2 metatarsus|metatarsal bone of digit II|second metatarsal bone|metatarsal bone of foot digit 2|toe 2 metatarsal|metatarsal II|metatarsal 2|toe 2 metatarsus MA:0001370|AAO:0000926|FMA:24503|UMLS:C1709000|EMAPA:19125|NCIT:C52790 uberon owl:Class Dumb-bell-shaped bone of endochondral origin with cartilaginous epiphyses that articulates with tarsal 2 proximally and with the proximal phalanx of digit II distally.[AAO] 2 GO:0036135 biolink:NamedThing Schwann cell migration The orderly movement of a Schwann cell from one site to another. A Schwann cell is a glial cell that ensheathes axons of neuron in the peripheral nervous system and is necessary for their maintainance and function. tmpxe7fu0cj_hp_relaxed.owl bf 2012-03-06T10:44:39Z biological_process owl:Class GO:0008347 biolink:NamedThing glial cell migration The orderly movement of a glial cell, non-neuronal cells that provide support and nutrition, maintain homeostasis, form myelin, and participate in signal transmission in the nervous system. tmpxe7fu0cj_hp_relaxed.owl glia cell migration GO:0043359 biological_process owl:Class HP:0007827 biolink:NamedThing Nodular corneal dystrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024792 human_phenotype owl:Class HP:0011494 biolink:NamedThing Generalized opacification of the cornea Generalized reduced transparency of the stroma of the cornea. tmpxe7fu0cj_hp_relaxed.owl Generalised opacification of the cornea UMLS:C4021147 peter 2012-04-02T10:39:50Z human_phenotype owl:Class PR:P47989 biolink:NamedThing xanthine dehydrogenase/oxidase (human) A xanthine dehydrogenase/oxidase that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl XDH|hXDH|XDHA UniProtKB:P47989 Category=organism-gene. protein owl:Class UBERON:0015833 biolink:NamedThing foregut epithelium An epithelium that is part of a foregut. tmpxe7fu0cj_hp_relaxed.owl EMAPA:32922|MA:0003204 uberon owl:Class HP:0034153 biolink:NamedThing Anti-cytosolic-5-nucleotidase-1A antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A). tmpxe7fu0cj_hp_relaxed.owl Anti-cN1A antibody positivity 2021-12-23 14:09:27+00:00 peter owl:Class HP:0041168 biolink:NamedThing Fractured lumbar vertebra A partial or complete breakage of the lumbar vertebra. tmpxe7fu0cj_hp_relaxed.owl bone lumbar vertebra owl:Class HP:0041166 biolink:NamedThing Fractured vertebra A partial or complete breakage of the vertebra. tmpxe7fu0cj_hp_relaxed.owl bone vertebra owl:Class HP:0100548 biolink:NamedThing Exstrophy Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:110407002|UMLS:C0015338 doelkens 2010-12-21T02:20:01Z human_phenotype owl:Class HP:0001337 biolink:NamedThing Tremor An unintentional, oscillating to-and-fro muscle movement about a joint axis. tmpxe7fu0cj_hp_relaxed.owl Tremor|Tremors UMLS:C0040822|SNOMEDCT_US:26079004|MSH:D014202 Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. HP:0001309|HP:0001295 human_phenotype owl:Class UBERON:0000476 biolink:NamedThing acellular anatomical structure Anatomical structure that consists of cell parts and cell substances and together does not constitute a cell or a tissue. tmpxe7fu0cj_hp_relaxed.owl acellular anatomical structures TAO:0000382|HAO:0000040|FMA:63863|TGMA:0001841|EHDAA2:0003040|BILA:0000040|CARO:0000040|XAO:0003162|AAO:0010268|ZFA:0000382|FBbt:00007013|AEO:0000040 uberon owl:Class GO:1990849 biolink:NamedThing vacuolar localization Any process in which the vacuole is transported to, and/or maintained in, a specific location within the cell. tmpxe7fu0cj_hp_relaxed.owl maintenance of vacuole location|maintenance of vacuolar location|maintenance of vacuole localization|maintenance of vacuolar localization https://github.com/geneontology/go-ontology/issues/22182 mcc 2015-09-10T08:16:02Z biological_process owl:Class GO:0099571 biolink:NamedThing postsynaptic cytoskeleton The portion of the cytoskeleton contained within the postsynapse. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:0005856 biolink:NamedThing cytoskeleton Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Cytoskeleton cellular_component owl:Class CHEBI:33233 biolink:NamedThing fundamental particle A particle not known to have substructure. tmpxe7fu0cj_hp_relaxed.owl elementary particles|elementary particle chebi_ontology owl:Class CHEBI:36342 biolink:NamedThing subatomic particle A particle smaller than an atom. tmpxe7fu0cj_hp_relaxed.owl subatomic particles Wikipedia:Subatomic_particle chebi_ontology owl:Class UBERON:0013161 biolink:NamedThing left lateral ventricle A telencephalic ventricle that is in_the_left_side_of a telencephalon. tmpxe7fu0cj_hp_relaxed.owl left telencephalic ventricle FMA:78450 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0013758 biolink:NamedThing cervical os One of two openings in the uterine cervix. tmpxe7fu0cj_hp_relaxed.owl cervical opening|uterine cervix opening FMA:20422 uberon owl:Class UBERON:0008845 biolink:NamedThing nonskeletal ligament A ligament that does not connect two skeletal elements. tmpxe7fu0cj_hp_relaxed.owl fibrous ligament|non-skeletal ligament MA:0003004|FMA:25625 uberon owl:Class Ligament organ that primarily consists of dense connective tissue aggregated into fasciculi which may be admixed with smooth muscle. Examples: ligament of liver, ovarian ligament[FMA:25625]. this class is used more generally than the FMA class, to include for example folds of mesentery such as the broad ligament of the uterus. HP:0030806 biolink:NamedThing Fast-growing nails Nails whose growth is quicker than normal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280757 owl:Class HP:0030807 biolink:NamedThing Abnormal nail growth Nail whose growth pattern or speed deviates from normal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1610609 owl:Class HP:0100087 biolink:NamedThing Triangular epiphyses of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the little toe bone|Triangular end part of the pinky toe bone|Triangular end part of the pinkie toe bone UMLS:C4022334 doelkens 2010-06-24T10:00:02Z human_phenotype owl:Class GO:0000070 biolink:NamedThing mitotic sister chromatid segregation The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets. tmpxe7fu0cj_hp_relaxed.owl mitotic chromosome segregation|mitotic sister-chromatid adhesion release GO:0016359 biological_process owl:Class UBERON:0005286 biolink:NamedThing tela choroidea of midbrain cerebral aqueduct Tela choroidea that lines the tectal ventricle. tmpxe7fu0cj_hp_relaxed.owl tela choroidea of cerebral aqueduct|tela chorioidea tectal ventricle|tela choroidea tectal ventricle ZFA:0005157|TAO:0005157 uberon owl:Class Tela chorioidea that lines the tectal ventricle.[TAO] UBERON:0001415 biolink:NamedThing skin of pelvis A zone of skin that is part of a pelvis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl zone of skin of pelvis|pelvis zone of skin|pelvic skin|pelvis skin EMAPA:37282|FMA:22984|MA:0000546 uberon owl:Class HP:0031867 biolink:NamedThing Neck hypertonia Increased passive stiffness or tightness of the neck musculature. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 21:31:34+00:00 peter owl:Class CHEBI:157668 biolink:NamedThing carbocyclic fatty acid anion Any fatty acid anion containing a ring composed of carbon atoms. Major microspecies at pH 7.3 tmpxe7fu0cj_hp_relaxed.owl carbocyclic fatty acid chebi_ontology owl:Class CHEBI:33670 biolink:NamedThing heteromonocyclic compound tmpxe7fu0cj_hp_relaxed.owl heteromonocyclic compound|heteromonocyclic compounds chebi_ontology owl:Class CHEBI:5686 biolink:NamedThing heterocyclic compound A cyclic compound having as ring members atoms of at least two different elements. tmpxe7fu0cj_hp_relaxed.owl heterocyclic compounds|compuesto heterociclico|compuestos heterociclicos|heterocycle|Heterocyclic compound chebi_ontology owl:Class HP:0032464 biolink:NamedThing Ureteral hypoplasia Underdevelopment of the ureter. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of the ureter|Ureter hypoplasia 2019-04-04 09:26:25+00:00 peter owl:Class GO:0030103 biolink:NamedThing vasopressin secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0030072 biolink:NamedThing peptide hormone secretion The regulated release of a peptide hormone from a cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:5003633 biolink:NamedThing pedal digit 3 plus metapodial segment A subdivision of the autopod consisting of pedal digit 3 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl pedal digit 3 ray|pedal digit 3 digitopodial subdivision|pedal digit 3|pedal digit III plus metapodial segment|pedal digit 3 ( phalanges plus metapodial) plus soft tissue this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class UBERON:5001466 biolink:NamedThing pedal digit plus metapodial segment A subdivision of the autopod consisting of pedal digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl pedal digit digitopodial subdivision|pedal digit ( phalanges plus metapodial) plus soft tissue|pedal digit ray|pedal digit this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class NBO:0000564 biolink:NamedThing social behavior phenotype "Observable characteristic of behavior that occurs predominantly or only, in individuals that are part of a group." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl pathological social behaviour 2011-04-14T08:24:37Z George Gkoutos behavior_ontology owl:Class HP:0033104 biolink:NamedThing Inappropriate absence of fever Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response. tmpxe7fu0cj_hp_relaxed.owl 2020-08-29 13:06:30+00:00 The induction and maintenance of fever during infection involves the tightly coordinated interplay between the innate immune system and neuronal circuitry within the central and peripheral nervous systems. Some diseases (such as Hyper-IgE recurrent infection syndrome 5, autosomal recessive, which is due to IL6R mutation) are associated with a lack of clinically adequate inflammatory response in the face of marked infection. peter owl:Class HP:0004370 biolink:NamedThing Abnormality of temperature regulation An abnormality of temperature homeostasis. tmpxe7fu0cj_hp_relaxed.owl Body temperature changes|Poor temperature regulation|Abnormality of temperature regulation UMLS:C0005904|MSH:D001832|UMLS:C1832160 peter 2008-03-18T06:34:00Z human_phenotype owl:Class HP:0100035 biolink:NamedThing Phonic tics Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound. tmpxe7fu0cj_hp_relaxed.owl Vocal tics|Verbal tics MSH:D020323|UMLS:C0751901 doelkens 2010-06-10T12:13:57Z human_phenotype owl:Class HP:0100033 biolink:NamedThing Tics Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement. tmpxe7fu0cj_hp_relaxed.owl Tics|Tic disorder UMLS:C2169806 Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing. Movements of other movement disorders (for example, chorea, dystonia, myoclonus) must be distinguished from tics. Other conditions, such as autism and stereotypic movement disorder, also include movements which may be confused with tics. Tics must also be distinguished from the compulsions of OCD and from seizure activity. Tics may increase as a result of stress, fatigue, boredom, or high-energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement or anticipation. Relaxation may result in a tic increase (for instance, watching television or using a computer), while concentration on an absorbing activity often leads to a decrease in tics. doelkens 2010-06-10T12:10:29Z human_phenotype owl:Class UBERON:0006600 biolink:NamedThing presumptive enteric nervous system tmpxe7fu0cj_hp_relaxed.owl future enteric nervous system EFO:0003462|ZFA:0001334|AAO:0000472|TAO:0001334 uberon owl:Class GO:0045985 biolink:NamedThing positive regulation of pyrimidine nucleobase metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. tmpxe7fu0cj_hp_relaxed.owl up regulation of pyrimidine base metabolic process|upregulation of pyrimidine base metabolic process|positive regulation of pyrimidine base metabolism|up-regulation of pyrimidine base metabolic process|positive regulation of pyrimidine base metabolic process|stimulation of pyrimidine base metabolic process|activation of pyrimidine base metabolic process biological_process owl:Class GO:0002888 biolink:NamedThing positive regulation of myeloid leukocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte mediated immunity. tmpxe7fu0cj_hp_relaxed.owl up regulation of myeloid leukocyte mediated immunity|up-regulation of myeloid leukocyte mediated immunity|stimulation of myeloid leukocyte mediated immunity|activation of myeloid leukocyte mediated immunity|upregulation of myeloid leukocyte mediated immunity biological_process owl:Class HP:0000938 biolink:NamedThing Osteopenia Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. tmpxe7fu0cj_hp_relaxed.owl Osteopaenia|Generalised osteopenia|Generalized osteopenia UMLS:C0747078|MSH:D001851|SNOMEDCT_US:78441005|SNOMEDCT_US:312894000|UMLS:C0029453 HP:0002768|HP:0002799|HP:0002800 owl:Class HP:0004349 biolink:NamedThing Reduced bone mineral density A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. tmpxe7fu0cj_hp_relaxed.owl Decreased bone mineral density Z score|Low solidness and mass of the bones|Decreased bone mineral density UMLS:C2674432 peter 2008-03-11T08:10:00Z human_phenotype owl:Class HP:0034068 biolink:NamedThing Anti-plasminogen binding peptide antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide. tmpxe7fu0cj_hp_relaxed.owl Anti-PBP antibody positivity 2021-12-18 14:30:53+00:00 peter owl:Class CHEBI:35902 biolink:NamedThing oxo monocarboxylic acid anion tmpxe7fu0cj_hp_relaxed.owl oxo monocarboxylic acid anions CHEBI:35901|CHEBI:35178 chebi_ontology owl:Class HP:0001533 biolink:NamedThing Slender build Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. tmpxe7fu0cj_hp_relaxed.owl Thin body habitus|Thin build|Asthenic habitus|Slender build UMLS:C1850573 Slender, long-limbed habitus. HP:0001529 human_phenotype owl:Class HP:0000098 biolink:NamedThing Tall stature A height above that which is expected according to age and gender norms. tmpxe7fu0cj_hp_relaxed.owl Increased body height|Increased linear growth|Tall stature|Accelerated linear growth UMLS:C0241240|SNOMEDCT_US:248328003 peter 2008-02-27T02:21:00Z HP:0001527|HP:0003515|HP:0003516 human_phenotype owl:Class HP:0010046 biolink:NamedThing Aplasia of the 5th metacarpal Absence of the fifth long bone of the hand. tmpxe7fu0cj_hp_relaxed.owl Absent 5th metacarpal|Absent 5th long bone of hand UMLS:C1867929 doelkens 2009-05-27T04:37:44Z HP:0006103 human_phenotype owl:Class HP:0010048 biolink:NamedThing Aplasia of metacarpal bones Developmental defect associated with absence of one or more metacarpal bones. tmpxe7fu0cj_hp_relaxed.owl Absent metacarpals|Absent long bone of hand|Absent metacarpal UMLS:C1846473 doelkens 2009-05-27T04:40:58Z HP:0005911 human_phenotype owl:Class GO:0045222 biolink:NamedThing CD4 biosynthetic process The chemical reactions and pathways resulting in the formation of CD4, a CD marker that occurs on T-helper cells and is involved in MHC class II restricted interactions. tmpxe7fu0cj_hp_relaxed.owl CD4 synthesis|CD4 formation|CD4 biosynthesis|CD4 anabolism biological_process owl:Class HP:0004468 biolink:NamedThing Anomalous tracheal cartilage An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue). tmpxe7fu0cj_hp_relaxed.owl Abnormal tracheal cartilaginous ring UMLS:C1863406 HPO:probinson human_phenotype owl:Class UBERON:0015103 biolink:NamedThing distal tarsal bone 1 cartilage A distal tarsal bone 1 endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl distal tarsal 1 cartilage|distal tarsal 1 cartilage element uberon owl:Class CHEBI:32867 biolink:NamedThing D-prolinate An optically active form of prolinate having D-configuration. tmpxe7fu0cj_hp_relaxed.owl (2R)-pyrrolidine-2-carboxylate|D-prolinate|D-proline anion -1 C5H8NO2 InChI=1S/C5H9NO2/c7-5(8)4-2-1-3-6-4/h4,6H,1-3H2,(H,7,8)/p-1/t4-/m1/s1 ONIBWKKTOPOVIA-SCSAIBSYSA-M 114.12250 114.05605 [O-]C(=O)[C@H]1CCCN1 Gmelin:533350 chebi_ontology owl:Class CHEBI:32871 biolink:NamedThing prolinate An alpha-amino-acid anion that is the conjugate base of proline, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl prolinate|pyrrolidine-2-carboxylate|proline anion|pro(-) -1 C5H8NO2 InChI=1S/C5H9NO2/c7-5(8)4-2-1-3-6-4/h4,6H,1-3H2,(H,7,8)/p-1 ONIBWKKTOPOVIA-UHFFFAOYSA-M 114.12256 114.05605 [O-]C(=O)C1CCCN1 Gmelin:50151|Beilstein:5387795|Reaxys:5387795 chebi_ontology owl:Class UBERON:0018118 biolink:NamedThing right renal cortex interstitium A renal cortex interstitium that is part of a right kidney. tmpxe7fu0cj_hp_relaxed.owl cortical interstitial tissue of right kidney uberon owl:Class UBERON:0018114 biolink:NamedThing right kidney interstitium A kidney interstitium that is part of a right kidney. tmpxe7fu0cj_hp_relaxed.owl stroma of right kidney|right renal stroma FMA:74270 uberon owl:Class CL:0002262 biolink:NamedThing endothelial cell of sinusoid An endothelial cell that lines any of the venous cavities through which blood passes in various glands and organs such as the spleen and liver. tmpxe7fu0cj_hp_relaxed.owl FMA:63134 tmeehan 2010-09-14T10:57:26Z CL:1000403 cell owl:Class CHEBI:21760 biolink:NamedThing N-methyl-amino acid An amino acid derivative in which at least one of the hydrogens of the amino group has been replaced by a methyl group. tmpxe7fu0cj_hp_relaxed.owl N-methyl-amino acids chebi_ontology owl:Class UBERON:5103632 biolink:NamedThing pedal digit 2 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 2 plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl pedal digit II digitopodial skeleton|pedal digit 2 skeleton|pedal digit 2 this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class UBERON:5106049 biolink:NamedThing digit 2 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of digit 2 plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl digit 2 skeleton|digit 2|digit II digitopodial skeleton this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class CL:1000376 biolink:NamedThing Purkinje myocyte of interventricular septum A Purkinje myocyte that is part of the interventricular septum. tmpxe7fu0cj_hp_relaxed.owl FMA:263182 cell owl:Class HP:0001920 biolink:NamedThing Renal artery stenosis The presence of stenosis of the renal artery. tmpxe7fu0cj_hp_relaxed.owl Narrowing of kidney artery Fyler:2634|MSH:D012078|SNOMEDCT_US:302233006|SNOMEDCT_US:282664001|UMLS:C0035067 human_phenotype owl:Class PATO:0000644 biolink:NamedThing hyperplastic A increased size quality inhering in an organ or tissue by virtue of the bearer's exhibiting increased number of cells. tmpxe7fu0cj_hp_relaxed.owl overdeveloped|hyperplasia PATO:0000943 quality owl:Class GO:1903379 biolink:NamedThing regulation of mitotic chromosome condensation Any process that modulates the frequency, rate or extent of mitotic chromosome condensation. tmpxe7fu0cj_hp_relaxed.owl al 2014-08-26T13:57:13Z biological_process owl:Class GO:0010564 biolink:NamedThing regulation of cell cycle process Any process that modulates a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0000551 biolink:NamedThing Color vision defect An anomaly in the ability to discriminate between or recognize colors. tmpxe7fu0cj_hp_relaxed.owl Colour vision defects|Colour vision defect, severe|Color vision defect, severe|Abnormality of colour vision|Abnormal color vision|Abnormality of color vision|Loss in color vision|Loss in colour vision|Colour vision defect|Abnormal colour vision|Color vision defects UMLS:C0234629|SNOMEDCT_US:367469000|MSH:D003117|SNOMEDCT_US:23289000|UMLS:C0009398|UMLS:C3552853 owl:Class HP:0002493 biolink:NamedThing Upper motor neuron dysfunction A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. tmpxe7fu0cj_hp_relaxed.owl Pyramidal tract dysfunction|Corticospinal tract dysfunction UMLS:C1839042|UMLS:C1504405 A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response). owl:Class PATO:0000967 biolink:NamedThing undulate A shape quality inhering in a bearer by virtue of the bearer's having a sinuate margin and rippled surface. tmpxe7fu0cj_hp_relaxed.owl undulating|wavy|sinuate|waved|rippled|undulated PATO:0001610|PATO:0001939 quality owl:Class GO:1905833 biolink:NamedThing negative regulation of microtubule nucleation Any process that stops, prevents or reduces the frequency, rate or extent of microtubule nucleation. tmpxe7fu0cj_hp_relaxed.owl downregulation of microtubule nucleation|down-regulation of microtubule nucleation|down regulation of microtubule nucleation|inhibition of microtubule nucleation hbye 2017-01-17T12:00:56Z biological_process owl:Class HP:0010545 biolink:NamedThing Downbeat nystagmus Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:307676006|UMLS:C0585544 peter 2009-09-23T10:47:44Z human_phenotype owl:Class HP:0010544 biolink:NamedThing Vertical nystagmus Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:111533001|UMLS:C0271386|MSH:D009759 peter 2009-09-23T10:45:18Z human_phenotype owl:Class UBERON:0002338 biolink:NamedThing lamina propria of bronchus A lamina propria that is part of a bronchus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lamina propria of bronchi|bronchial trunk lamina propria mucosa|bronchus lamina propria mucosa|lamina propria of bronchial trunk|lamina propria mucosa of bronchus|lamina propria mucosae of bronchus|bronchus lamina propria mucosae|bronchial trunk lamina propria mucosae|lamina propria mucosa of bronchi|bronchial lamina propria|bronchi lamina propria mucosae|lamina propria mucosa of bronchial trunk|bronchi lamina propria mucosa|lamina propria mucosae of bronchi|bronchus lamina propria|bronchial trunk lamina propria|bronchi lamina propria|lamina propria mucosae of bronchial trunk MA:0001836|UMLS:C1707054|FMA:86619|EMAPA:35194|NCIT:C49212 uberon owl:Class UBERON:0000031 biolink:NamedThing lamina propria of trachea A lamina propria that is part of a respiratory airway. tmpxe7fu0cj_hp_relaxed.owl windpipe lamina propria|trachea lamina propria|windpipe lamina propria mucosae|lamina propria mucosa of trachea|tracheal lamina propria|lamina propria of windpipe|trachea lamina propria mucosae|lamina propria mucosae of windpipe|lamina propria mucosa of windpipe|windpipe lamina propria mucosa|lamina propria mucosae of trachea|trachea lamina propria mucosa EMAPA:35877|MA:0001858|UMLS:C1710457|NCIT:C49305|FMA:265157 uberon owl:Class HP:0003864 biolink:NamedThing Bifid humerus Clefting affecting the humerus. tmpxe7fu0cj_hp_relaxed.owl Notched long bone in upper arm UMLS:C4025545 human_phenotype owl:Class HP:0031216 biolink:NamedThing Increased circulating progesterone An elevated concentration of progesterone in the blood. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 11:33:47+00:00 peter owl:Class HP:0031212 biolink:NamedThing Abnormal circulating progesterone level tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 11:20:51+00:00 peter owl:Class HP:0003996 biolink:NamedThing Flattened radial head tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025459 human_phenotype owl:Class HP:0003995 biolink:NamedThing Abnormality of the radial head tmpxe7fu0cj_hp_relaxed.owl Deformity of radial heads UMLS:C4021696 human_phenotype owl:Class UBERON:0004548 biolink:NamedThing left eye An eye that is part of a left side of organism [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl left orbital region|left eyeball|left orbital part of face NCIT:C119334|FMA:12515|MA:0002949|EMAPA:37362|SCTID:362503005 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0004270 biolink:NamedThing lower leg connective tissue A portion of connective tissue that is part of a lower leg [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37327|MA:0000677 uberon owl:Class HP:0100540 biolink:NamedThing Palpebral edema Edema in the region of the eyelids. tmpxe7fu0cj_hp_relaxed.owl Eyelid edema|Puffy lids|Palpebral oedema|Fullness of eyelids|Swelling of eyelids|Puffy eyelids|Oedema of the eyelids|Edema of the eyelids|Eyelid oedema UMLS:C0162285|SNOMEDCT_US:89091004 doelkens 2010-12-20T06:09:32Z HP:0000626 human_phenotype owl:Class UBERON:0001949 biolink:NamedThing gingival epithelium A stratified squamous epithelium consisting of a basal layer; it is keratinized or parakeratinized[BTO]. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of gingiva|epithelium of gingiva|gingiva epithelium|gingiva epithelial tissue BTO:0004998|UMLS:C1179154|MA:0001576|NCIT:C49239|FMA:62423 uberon owl:Class In humans: 15% orthokeratinized, 75% parakeratinized, 10% non-keratinized; diurnal; decreased keratinization with age. Note that in FMA this is classified as keratinized squamous - this perhaps refers to the epithelium of the attached or free gingiva UBERON:0004808 biolink:NamedThing gastrointestinal system epithelium An epithelium that is part of a digestive system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelium of gastrointestinal system|epithelial tissue of digestive system|epithelium of digestive system|digestive system epithelial tissue|epithelial tissue of gastrointestinal system|digestive system epithelium|gastrointestinal system epithelial tissue EMAPA:32683|MA:0001520 uberon owl:Class HP:0100853 biolink:NamedThing Hypoplastic areola Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic areolae UMLS:C3276032 doelkens 2011-11-30T09:41:44Z HP:0006609 human_phenotype owl:Class HP:0006308 biolink:NamedThing Atrophy of alveolar ridges tmpxe7fu0cj_hp_relaxed.owl Flattening of alveolar margin|Alveolar bone loss|Shrinking of alveolar ridges|Atrophy of alveolar margins|Flattening of alveolar processes of jaw|Resorption of alveolar ridges|Flattening of gum ridges|Shrinking of gum ridges|Resorption of alveolar processes of jaw|Flattening of alveolar ridges|Resorption of alveolar margins|Atrophy of alveolar processes of jaw UMLS:C4280455|UMLS:C1855642|UMLS:C4280454 human_phenotype owl:Class CHEBI:20706 biolink:NamedThing 6-aminopurines Any compound having 6-aminopurine (adenine) as part of its structure. tmpxe7fu0cj_hp_relaxed.owl 6-aminopurines PMID:7342604|PMID:1646334|PMID:18524423 chebi_ontology owl:Class HP:0100336 biolink:NamedThing Bilateral cleft lip A non-midline cleft of the upper lip on the left and right sides. tmpxe7fu0cj_hp_relaxed.owl Bilateral cheiloschisis|Both sided cleft lip|Right and left cleft lip UMLS:C0392005|SNOMEDCT_US:304068004 doelkens 2010-10-13T04:13:10Z human_phenotype owl:Class HP:0100335 biolink:NamedThing Non-midline cleft lip Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. tmpxe7fu0cj_hp_relaxed.owl Paramedian cleft of the upper lip|Non-midline cleft of the upper lip UMLS:C4021020 doelkens 2010-10-13T04:12:24Z HP:0100332|HP:0010283 human_phenotype owl:Class CHEBI:167559 biolink:NamedThing glycan Any oligosaccharide, polysaccharide or their derivatives consisting of monosaccharides or monosaccharide derivatives linked by glycosidic bonds. See also http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001. tmpxe7fu0cj_hp_relaxed.owl glycans chebi_ontology owl:Class HP:0001500 biolink:NamedThing Broad finger Increased width of a non-thumb digit of the hand. tmpxe7fu0cj_hp_relaxed.owl Broad finger|Wide fingers|Broad fingers UMLS:C1844906 Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify "Broad fingers, F1-5" instead of separately specifying "Broad thumb" and "Broad fingers F2-5". HP:0001497 human_phenotype owl:Class GO:0046681 biolink:NamedThing response to carbamate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbamate stimulus. Carbamates are a group of insecticides and parasiticides that act by inhibiting cholinesterase. tmpxe7fu0cj_hp_relaxed.owl carbamate resistance|carbamate susceptibility/resistance biological_process owl:Class GO:0021783 biolink:NamedThing preganglionic parasympathetic fiber development The process whose specific outcome is the progression of a preganglionic parasympathetic fiber over time, from its formation to the mature structure. A preganglionic parasympathetic fiber is a cholinergic axonal fiber projecting from the CNS to a parasympathetic ganglion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0004518 biolink:NamedThing muscle of vertebral column A muscle that is attached to a vertebra of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl vertebral column muscle FMA:22594 uberon owl:Class GO:0045763 biolink:NamedThing negative regulation of cellular amino acid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amino acid. tmpxe7fu0cj_hp_relaxed.owl down regulation of amino acid metabolic process|downregulation of amino acid metabolic process|inhibition of amino acid metabolic process|negative regulation of amino acid metabolism|down-regulation of amino acid metabolic process biological_process owl:Class HP:0012702 biolink:NamedThing Tenesmus A repeated, painful urge to defecate without excreting stool. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:6548007|UMLS:C0232726|SNOMEDCT_US:267053000 peter 2014-03-22T06:23:05Z human_phenotype owl:Class HP:0012700 biolink:NamedThing Abnormal large intestine physiology A functional anomaly of the large intestine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022766 peter 2014-03-22T06:20:38Z human_phenotype owl:Class HP:0010678 biolink:NamedThing Enuresis diurna Enuresis occurring during waking hours of the day. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023746 sandra1 2010-03-01T09:11:51Z human_phenotype owl:Class HP:0000805 biolink:NamedThing Enuresis Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. tmpxe7fu0cj_hp_relaxed.owl MSH:D004775|UMLS:C0014394|SNOMEDCT_US:8009008 human_phenotype owl:Class UBERON:0010165 biolink:NamedThing collection of hair on face A collection of hairs that is part of a face. tmpxe7fu0cj_hp_relaxed.owl set of facial hairs|facial hair|facial hairs set FMA:70741 uberon owl:Class UBERON:0014382 biolink:NamedThing collection of hairs on head or neck A collection of hairs that is part of a craniocervical region. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0100156 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the middle bone of the 3rd toe UMLS:C4022265 doelkens 2010-06-24T10:24:13Z human_phenotype owl:Class HP:0032865 biolink:NamedThing Myoclonic absence status epilepticus Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032860 biolink:NamedThing Generalized non-convulsive status epilepticus without coma Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure. tmpxe7fu0cj_hp_relaxed.owl Absence status epilepticus|Generalised non-convulsive status epilepticus without coma|Petit mal status epilepticus peter owl:Class HP:0008955 biolink:NamedThing Progressive distal muscular atrophy Progressive muscular atrophy affecting muscles in the distal portions of the extremities. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024613 human_phenotype owl:Class HP:0100814 biolink:NamedThing Blue nevus tmpxe7fu0cj_hp_relaxed.owl Congenital dermal melanocytosis|Mongolian spot UMLS:C0265985|SNOMEDCT_US:40467008|UMLS:C4020699|MSH:D049328 doelkens 2011-06-09T02:15:28Z human_phenotype owl:Class CHEBI:36885 biolink:NamedThing 20-oxo steroid An oxo steroid carrying an oxo group at position 20. tmpxe7fu0cj_hp_relaxed.owl 20-oxo steroids chebi_ontology owl:Class UBERON:0018234 biolink:NamedThing stroma of pancreas A stroma that is part of a pancreas. tmpxe7fu0cj_hp_relaxed.owl pancreatic stroma FMA:63121 uberon owl:Class UBERON:0005428 biolink:NamedThing vagal neural crest Vagal neural crest is adjacent to the first seven somites gives rise to both ganglionic and ectomesenchymal derivatives[ZFA]. tmpxe7fu0cj_hp_relaxed.owl post-otic neural crest|enteric neural crest|VNC TAO:0000818|XAO:0004191|EHDAA2:0002156|VHOG:0001208|EHDAA:669|ZFA:0000818 uberon owl:Class Vagal neural crest is adjacent to the first seven somites gives rise to both ganglionic and ectomesenchymal derivatives.[TAO] We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] In chicken fate mapping studies it was found to originate from neural crest residing between Somite 1-7 (S1-7); In mouse it is considered to be derived from rhombencephalic (post otic) neural crest cells and trunk neural crest cells (anterior to S5) HP:0009459 biolink:NamedThing Short proximal phalanx of the 3rd finger Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger. tmpxe7fu0cj_hp_relaxed.owl Short proximal middle-finger phalanx|Short innermost bone of middle finger|Hypoplastic/small proximal phalanx of the 3rd finger|Short proximal phalanx of the third finger|Small proximal middle-finger phalanx UMLS:C4021470 doelkens 2009-01-14T04:35:28Z HP:0004170|HP:0004169 human_phenotype owl:Class HP:0033809 biolink:NamedThing Increased circulating 17 hydroxypregnenolone concentration Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 11:41:20+00:00 Increased concentration of 17 hydroxypregnolone level can be observed in conditions including cytochrome P450 oxidoreductase deficiency. peter owl:Class HP:0031187 biolink:NamedThing Abnormal circulating pregnenolone concentration An abnormality of the concentration of pregnenolone in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormality of circulating pregnenolone level 2017-06-21 10:45:33+00:00 Neurosteroids are steroids synthesized within the central nervous system as well as in other steroidogenic organs/tissues. In contrary with the classical actions through intracellular receptors, extensive evidence has established that neurosteroids can exert rapid, potent actions at the cell membrane via allosteric interactions with the GABAA receptor. Pregnenolone is a naturally occurring neurosteroid directly metabolized from cholesterol and the precursor of virtually all neurosteroids. peter owl:Class UBERON:0000398 biolink:NamedThing cartilage tissue of sternum Any portion of cartilage tissue that is part of the sternum. tmpxe7fu0cj_hp_relaxed.owl cartilage of sternum FMA:32567 Examples: cartilage of manubrium, cartilage of xiphoid process uberon owl:Class HP:0100907 biolink:NamedThing Sclerosis of the middle phalanx of the 5th finger tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the middle bone of the little finger|Increased bone density in the middle bone of the pinkie finger|Increased bone density in the middle bone of the pinky finger UMLS:C4021935 human_phenotype owl:Class GO:0004556 biolink:NamedThing alpha-amylase activity Catalysis of the endohydrolysis of (1->4)-alpha-D-glucosidic linkages in polysaccharides containing three or more alpha-(1->4)-linked D-glucose units. tmpxe7fu0cj_hp_relaxed.owl 1,4-alpha-D-glucan glucanohydrolase activity molecular_function owl:Class GO:0003674 biolink:NamedThing molecular_function A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. These actions are described from two distinct but related perspectives: (1) biochemical activity, and (2) role as a component in a larger system/process. tmpxe7fu0cj_hp_relaxed.owl molecular function molecular process Note that, in addition to forming the root of the molecular function ontology, this term is recommended for use for the annotation of gene products whose molecular function is unknown. When this term is used for annotation, it indicates that no information was available about the molecular function of the gene product annotated as of the date the annotation was made; the evidence code 'no data' (ND), is used to indicate this. Despite its name, this is not a type of 'function' in the sense typically defined by upper ontologies such as Basic Formal Ontology (BFO). It is instead a BFO:process carried out by a single gene product or complex. GO:0005554 molecular_function owl:Class HP:0003907 biolink:NamedThing Abnormality of the humeral metaphyses tmpxe7fu0cj_hp_relaxed.owl Abnormality of the wide portion of the long bone in upper arm UMLS:C4025517 human_phenotype owl:Class UBERON:0001703 biolink:NamedThing neurocranium Subdivision of skeletal system that surrounds and protects the brain. Includes the skull base, sensory capsules and the central part of the skull roof. tmpxe7fu0cj_hp_relaxed.owl brain box|braincase|brain case|brain pan SCTID:361731002|XAO:0003170|EMAPA:17681|ZFA:0001580|Wikipedia:Neuroranium|MA:0000317|EHDAA2:0000243|FMA:53672|AAO:0010153|TAO:0001580 uberon owl:Class Anatomical cluster that consists of the cartilages and bones that surround the brain.[TAO] neurocranial It includes the following bones: Ethmoid bone, Frontal bone, Occipital bone, Parietal bone, Sphenoid bone, Temporal bone. The term cranium can be ambiguous, in that it can refer to the neurocranium, or the neurocranium and the Facial skeleton The cartilaginous parts of the neurocranium undergo endochondral ossification in most species; ossification has been lost in cartilaginous fishes, but the cartilaginous condition of the skull of lampreys is considered to be primitive (Kardong, 1995)[PMID:11523816]. The neurocranium arises from paraxial mesoderm in the head (first five somites and the unsegmented somitomeres rostral to the first somite) and from ectoderm via the neural crest. In Chondrichthyes and other cartilaginous vertebrates this portion of the cranium does not ossify; it is not replaced via endochondral ossification[WP]. It seems MA uses 'neurocranium' as a synonym for chondrocranium. Note there are currently some structures part of both viscero and neurocranium - ethmoid, zyogomatic, ... HP:0003076 biolink:NamedThing Glycosuria An increased concentration of glucose in the urine. tmpxe7fu0cj_hp_relaxed.owl Glucosuria|Glucose in urine MSH:D006029|SNOMEDCT_US:45154002|UMLS:C0017979 Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. HP:0003122|HP:0011016 human_phenotype owl:Class CHEBI:15889 biolink:NamedThing sterol Any 3-hydroxy steroid whose skeleton is closely related to cholestan-3-ol (additional carbon atoms may be present in the side chain). tmpxe7fu0cj_hp_relaxed.owl Sterol|sterols|a sterol|3-hydroxysteroids 0 C19H31OR 275.450 275.23749 C12C(C3C(C(CC3)*)(C)CC1)CCC4C2(CCC(C4)O)C LIPID_MAPS_class:LMST01|Wikipedia:Sterol|KEGG:C00370|MetaCyc:Sterols CHEBI:26771|CHEBI:15114|CHEBI:9266|CHEBI:13688 chebi_ontology owl:Class CHEBI:36834 biolink:NamedThing 3-hydroxy steroid Any hydroxy steroid carrying a hydroxy group at position 3. tmpxe7fu0cj_hp_relaxed.owl 3-hydroxy steroids chebi_ontology owl:Class HP:0040034 biolink:NamedThing Abnormality of the second metatarsal bone tmpxe7fu0cj_hp_relaxed.owl Abnormality of the 2nd long bone of foot UMLS:C4022479 HPO:skoehler owl:Class GO:0031336 biolink:NamedThing negative regulation of sulfur amino acid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. tmpxe7fu0cj_hp_relaxed.owl negative regulation of sulfur amino acid metabolism|down-regulation of sulfur amino acid metabolic process|down regulation of sulfur amino acid metabolic process|downregulation of sulfur amino acid metabolic process|inhibition of sulfur amino acid metabolic process biological_process owl:Class UBERON:0011380 biolink:NamedThing female external urethral sphincter The external sphincter muscle of female urethra is a muscle which controls urination. tmpxe7fu0cj_hp_relaxed.owl musculus sphincter urethrae externus (urethra feminina)|external urethral sphincter of female urethra|musculus sphincter urethrae externus urethrae femininae|sphincter urethrovaginalis|compressor urethrae|urethrovaginal sphincter|striated muscle layer of female urethra|outer muscle layer of female urethra|rhabdosphincter of female urethra FMA:19778 uberon owl:Class UBERON:0004919 biolink:NamedThing external urethral sphincter tmpxe7fu0cj_hp_relaxed.owl m. urethralis|external urethral sphincter muscle|annulus urethralis|musculus sphincter urethrae membranaceae|external sphincter muscle of urethra|urethralis muscle|urethralis|external sphincter of urethra EMAPA:37790|NCIT:C52561|MA:0002401|FMA:85274|UMLS:C1710586 http://upload.wikimedia.org/wikipedia/commons/d/d7/Gray1142.png|http://upload.wikimedia.org/wikipedia/commons/7/70/Gray1166.png uberon owl:Class HP:5000047 biolink:NamedThing Anti-ryanodine receptor antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor. tmpxe7fu0cj_hp_relaxed.owl Anti-RyR antibody ORCID:0000-0002-3387-1836 owl:Class CHEBI:16024 biolink:NamedThing D-mannose A mannose with D-configuration. tmpxe7fu0cj_hp_relaxed.owl D-mannose|D-manno-hexose 0 C6H12O6 180.15588 180.06339 CHEBI:12999|CHEBI:21057 chebi_ontology owl:Class CHEBI:37684 biolink:NamedThing mannose An aldohexose that is the C-2 epimer of glucose. tmpxe7fu0cj_hp_relaxed.owl mannose|Man|manno-hexose 0 C6H12O6 180.156 180.06339 PMID:24407290|PMID:16180318 CHEBI:33930|CHEBI:14575 chebi_ontology owl:Class GO:0070050 biolink:NamedThing neuron cellular homeostasis The cellular homeostatic process that preserves a neuron in a stable, differentiated functional and structural state. tmpxe7fu0cj_hp_relaxed.owl neuron maintenance biological_process owl:Class GO:0060249 biolink:NamedThing anatomical structure homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. tmpxe7fu0cj_hp_relaxed.owl anatomical structure maintenance biological_process owl:Class HP:0033370 biolink:NamedThing Bronchial telangiectasia Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system. tmpxe7fu0cj_hp_relaxed.owl Endobronchial telangiectasia 2020-12-16 12:36:41+00:00 Endobronchial telangiectasia may lead to hemoptysis and pulmonary hemorrhage. peter owl:Class HP:0006719 biolink:NamedThing Benign gastrointestinal tract tumors tmpxe7fu0cj_hp_relaxed.owl Benign GI tract tumors|Benign gastrointestinal tract tumours|Benign GI tract tumours|Non-cancerous GI tumours|Non-cancerous GI tumors UMLS:C0497538|SNOMEDCT_US:92118007 human_phenotype owl:Class CL:0000161 biolink:NamedThing acid secreting cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class UBERON:0003291 biolink:NamedThing meninx of hindbrain A meninx that is part of a hindbrain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hindbrain meninges|hindbrain meninx|meninges of hindbrain|rhomencephalon meninges MA:0000987|VHOG:0000011|EHDAA2:0000770|EHDAA:3688|EMAPA:17783 consider changing genus to subdivision of meninx uberon owl:Class Meninges that are part of the hindbrain. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] UBERON:0003700 biolink:NamedThing temporomandibular joint A synovial joint of the jaw that connects the mandible to the temporal bone. tmpxe7fu0cj_hp_relaxed.owl temperomandibular joint|tempero-mandibular joint|articulatio temporomandibularis|TMJ|squamosal-dentary joint|dentary-squamosal joint|temporomandibular articulation|temporalmandibular joint|temporomandibular|temporomandibular joint NCIT:C32888|EMAPA:19196|UMLS:C0039493|MESH:D013704|BTO:0003674|FMA:54832|GAID:272|MA:0002899 There are two TMJs, one on either side, working in unison. The unique feature of the TMJs is the articular disc. The disc is composed of fibrocartilagenous tissue (like the firm and flexible elastic cartilage of the ear) which is positioned between the two bones that form the joint. The TMJs are one of the only synovial joints in the human body with an articular disc, another being the sternoclavicular joint. The disc divides each joint into two. The lower joint compartment formed by the mandible and the articular disc is involved in rotational movement -- this is the initial movement of the jaw when the mouth opens. The upper joint compartment formed by the articular disk and the temporal bone is involved in translational movement -- this is the secondary gliding motion of the jaw as it is opened widely. The part of the mandible which mates to the under-surface of the disc is the condyle and the part of the temporal bone which mates to the upper surface of the disk is the glenoid (or mandibular) fossa[WP]. http://upload.wikimedia.org/wikipedia/commons/a/a5/Gray309.png uberon owl:Class HP:0100697 biolink:NamedThing Neurofibrosarcoma A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma. tmpxe7fu0cj_hp_relaxed.owl Malignant peripheral nerve sheath tumour|Malignant peripheral nerve sheath tumor|Malignant schwannoma|Neurosarcoma SNOMEDCT_US:77418004|MSH:D009442|NCIT:C3798|MSH:D018319|UMLS:C0751690|UMLS:C0206729|SNOMEDCT_US:404037002|SNOMEDCT_US:19897006 About half the cases are diagnosed in people with neurofibromatosis. doelkens 2011-03-29T11:40:44Z human_phenotype owl:Class GO:0060843 biolink:NamedThing venous endothelial cell differentiation The process in which a relatively unspecialized endothelial cell acquires specialized features of a venous endothelial cell, a thin flattened cell that lines the inside surfaces of veins. tmpxe7fu0cj_hp_relaxed.owl dph 2009-08-12T10:43:40Z biological_process owl:Class GO:0060837 biolink:NamedThing blood vessel endothelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a blood vessel endothelial cell, a thin flattened cell that lines the inside surfaces of blood vessels. tmpxe7fu0cj_hp_relaxed.owl dph 2009-08-11T03:47:36Z biological_process owl:Class GO:0003344 biolink:NamedThing pericardium morphogenesis The process in which the anatomical structure of the pericardium is generated and organized. tmpxe7fu0cj_hp_relaxed.owl dph 2009-12-01T10:46:34Z biological_process owl:Class GO:0002011 biolink:NamedThing morphogenesis of an epithelial sheet The process in which the anatomical structures of an epithelial sheet are generated and organized. An epithelial sheet is a flat surface consisting of closely packed epithelial cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0033178 biolink:NamedThing Increased circulating interleukin 8 An increased concentration of interleukin-8 in the circulation. tmpxe7fu0cj_hp_relaxed.owl Increased serum IL-8|Increased serum interleukin 8|Increased serum interleukin-8 2020-09-28 22:05:51+00:00 IL-8 is a chemokine that acts as a chemotactic factor secreted by activated monocytes and macrophages that promotes the directional migration of neutrophils, basophils, and T lymphocytes. peter owl:Class GO:0045839 biolink:NamedThing negative regulation of mitotic nuclear division Any process that stops, prevents or reduces the rate or extent of mitosis. Mitosis is the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother. tmpxe7fu0cj_hp_relaxed.owl down-regulation of mitosis|negative regulation of mitosis|inhibition of mitosis|down regulation of mitosis|downregulation of mitosis biological_process owl:Class GO:0045930 biolink:NamedThing negative regulation of mitotic cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle. tmpxe7fu0cj_hp_relaxed.owl inhibition of progression through mitotic cell cycle|downregulation of progression through mitotic cell cycle|down regulation of progression through mitotic cell cycle|negative regulation of mitotic cell cycle progression|down-regulation of progression through mitotic cell cycle|negative regulation of progression through mitotic cell cycle biological_process owl:Class CHEBI:72813 biolink:NamedThing exopolysaccharide A biomacromolecule composed of carbohydrate residues which is secreted by a microorganism into the surrounding environment. tmpxe7fu0cj_hp_relaxed.owl exopolysaccharides|extracellular polymeric substances|extracellular polymeric substance PMID:20718297|PMID:20172021|PMID:2688547|PMID:16075348|PMID:11785425|PMID:19453747|Wikipedia:Extracellular_polymeric_substance|Wikipedia:Exopolysaccharide|MetaCyc:Exopolysaccharides|PMID:11160795|PMID:17440912|PMID:15738217|PMID:20631870|PMID:1444258|PMID:18097339|PMID:6354590 chebi_ontology owl:Class HP:0500256 biolink:NamedThing Abnormal urine isobutyrylglycine concentration Abnormal concentration of isobutyrylglycine in the urine. tmpxe7fu0cj_hp_relaxed.owl Abnormal urinary isobutyrylglycine levels 2019-03-08 21:14:32+00:00 owl:Class HP:0012073 biolink:NamedThing Abnormal urinary acylglycine profile An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023057 N-acylglycines result from glycine conjugation with exogenous compounds to enhance their excretion in urine. Glycine conjugation is also an effective detoxification system for preventing accumulation of acyl-CoA esters in several inherited metabolic disorders. hecht 2012-08-11T09:46:03Z human_phenotype owl:Class GO:1903008 biolink:NamedThing organelle disassembly The disaggregation of an organelle into its constituent components. tmpxe7fu0cj_hp_relaxed.owl organelle degradation jl 2014-05-13T12:36:03Z biological_process owl:Class GO:0097386 biolink:NamedThing glial cell projection A prolongation or process extending from a glial cell. tmpxe7fu0cj_hp_relaxed.owl glial process|glial projection pr 2012-10-22T13:55:54Z cellular_component owl:Class CHEBI:32696 biolink:NamedThing argininium(1+) tmpxe7fu0cj_hp_relaxed.owl arginine monocation|H2arg(+)|arginine|2-ammonio-5-guanidiniopentanoate|argininium|argininium(1+) +1 C6H15N4O2 InChI=1S/C6H14N4O2/c7-4(5(11)12)2-1-3-10-6(8)9/h4H,1-3,7H2,(H,11,12)(H4,8,9,10)/p+1 ODKSFYDXXFIFQN-UHFFFAOYSA-O 175.20906 175.11895 NC(=[NH2+])NCCCC([NH3+])C([O-])=O Gmelin:1345599 chebi_ontology owl:Class HP:0003906 biolink:NamedThing Broad humeral epiphyseal plate Increased width of the humeral epiphyseal growth plate. tmpxe7fu0cj_hp_relaxed.owl Wide long bone of arm growth plate|Wide humeral epiphyseal plate UMLS:C4280540|UMLS:C4021708 human_phenotype owl:Class HP:0003846 biolink:NamedThing Wide epiphyseal plates of the upper limbs tmpxe7fu0cj_hp_relaxed.owl Broad epiphyseal plates of the upper limbs|Broad growth plates of upper limbs UMLS:C4020913 human_phenotype owl:Class HP:0012905 biolink:NamedThing Euryblepharon Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening. tmpxe7fu0cj_hp_relaxed.owl Kabuki syndrome eyelids UMLS:C4280305|UMLS:C1303001|SNOMEDCT_US:400954002 The palpebral fissure length may be increased with an enlargement of the palpebral aperture. The lateral part is usually more everted defining euryblepharon. The whole length eversion of the lower lid defines congenital ectropion. Euryblepharon is characteristic of the Kabuki syndrome. peter 2014-06-23T11:43:42Z human_phenotype owl:Class GO:0050868 biolink:NamedThing negative regulation of T cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of T cell activation. tmpxe7fu0cj_hp_relaxed.owl down regulation of T cell activation|inhibition of T cell activation|negative regulation of T-lymphocyte activation|negative regulation of T lymphocyte activation|downregulation of T cell activation|down-regulation of T cell activation|negative regulation of T-cell activation biological_process owl:Class NCBITaxon:32443 biolink:NamedThing Teleostei tmpxe7fu0cj_hp_relaxed.owl teleost fishes GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:41665 biolink:NamedThing Neopterygii tmpxe7fu0cj_hp_relaxed.owl Neopterygi GC_ID:1 ncbi_taxonomy owl:Class CHEBI:50858 biolink:NamedThing corticosteroid A natural or synthetic analogue of the hormones secreted by the adrenal gland. tmpxe7fu0cj_hp_relaxed.owl corticosteroids|corticoides|corticosteroides chebi_ontology owl:Class HP:0008462 biolink:NamedThing Cervical instability tmpxe7fu0cj_hp_relaxed.owl UMLS:C1863314 human_phenotype owl:Class HP:0005881 biolink:NamedThing Spinal instability tmpxe7fu0cj_hp_relaxed.owl UMLS:C0410648|SNOMEDCT_US:240220009 human_phenotype owl:Class HP:0030415 biolink:NamedThing Sarcomatoid carcinoma of the tongue Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation. tmpxe7fu0cj_hp_relaxed.owl Spindle cell carcinoma of the tongue UMLS:C2018408 owl:Class HP:0030413 biolink:NamedThing Squamous cell carcinoma of the tongue A carcinoma derived from a squamous epithelial cell of the tongue. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:276952000|UMLS:C0349566 Squamous cell carcinoma of the tongue is often painless and may present as a non-healing ulcer that demonstrates growth over time. owl:Class HP:0009778 biolink:NamedThing Short thumb Hypoplasia (congenital reduction in size) of the thumb. tmpxe7fu0cj_hp_relaxed.owl Small thumbs|Thumb hypoplasia|Thumb brachydactyly|Short thumbs|Short thumb|Hypoplastic thumb|Hypoplastic/small thumb|Hypoplastic thumbs MSH:C536903|UMLS:C0431890|SNOMEDCT_US:253936008 doelkens 2009-02-02T05:46:42Z HP:0001186|HP:0005699|HP:0006151|HP:0001589|HP:0001183|HP:0009628 human_phenotype owl:Class HP:0025516 biolink:NamedThing Coronary-pulmonary artery fistula A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl 2017-05-16 01:14:11+00:00 HPO:probinson owl:Class HP:0011641 biolink:NamedThing Coronary artery fistula A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel. tmpxe7fu0cj_hp_relaxed.owl Coronary fistula UMLS:C0265898|Fyler:2230|SNOMEDCT_US:373093003 Coronary artery fistulas are congenital malformations. This term does not apply to surgical fistulas. peter 2012-04-09T08:54:51Z human_phenotype owl:Class HP:0006398 biolink:NamedThing Flat distal femoral epiphysis An abnormal flattening of the distal epiphysis of femur. tmpxe7fu0cj_hp_relaxed.owl Flat end part of outermost thighbone|Flattened distal femoral epiphyses UMLS:C4021599 human_phenotype owl:Class HP:0030289 biolink:NamedThing Flattened femoral epiphysis An abnormal flattening of an epiphysis of femur. tmpxe7fu0cj_hp_relaxed.owl Flattended end part of thigh bone UMLS:C1850642 owl:Class UBERON:0003394 biolink:NamedThing mesentery of hindgut A mesentery that is part of a hindgut [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hindgut mesentery EMAPA:16718 uberon owl:Class GO:0043393 biolink:NamedThing regulation of protein binding Any process that modulates the frequency, rate or extent of protein binding. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0003496 biolink:NamedThing Increased circulating IgM level An abnormally increased level of immunoglobulin M in blood. tmpxe7fu0cj_hp_relaxed.owl Increased IgM levels|Increased levels of IgM UMLS:C1839972 HP:0002962 human_phenotype owl:Class HP:0410243 biolink:NamedThing Abnormal circulating IgM level An abnormal deviation from normal levels of IgM immunoglobulin in blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal IgM level in blood 2018-10-12 20:32:45+00:00 owl:Class HP:0100579 biolink:NamedThing Mucosal telangiectasiae Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022020 doelkens 2010-12-27T01:04:18Z human_phenotype owl:Class UBERON:0036073 biolink:NamedThing respiratory primordium mesenchyme tmpxe7fu0cj_hp_relaxed.owl respiratory primordium associated mesenchyme EHDAA2:0004071 uberon owl:Class UBERON:0007324 biolink:NamedThing pancreatic lobule A dense accumulation of exocrine glands in the pancreas often surrounding islets of Langerhans. tmpxe7fu0cj_hp_relaxed.owl pancreatic lobule|pancreas lobe|lobulus pancreaticus FMA:16012|EMAPA:37710|MA:0000721 TODO - check uberon owl:Class In mice many lobules lack islets, in contrast to other mammals including humans UBERON:0010940 biolink:NamedThing muscle of digastric group Either of the two muscles that comprise the digastric group (anterior or posterior). tmpxe7fu0cj_hp_relaxed.owl digastric belly|belly of digastric muscle|digastric muscle|musculus digastricus|muscle body proper of digastric|belly of digastric|digastric|digastricus FMA:46297 uberon owl:Class FMA represents this as a muscle belly, but this classification does not work well across mammals (pers. comm., FEED:rd), so we classify this is a distinct muscle organ here. HP:0032771 biolink:NamedThing Focal autonomic seizure with lacrimation A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:1902877 biolink:NamedThing positive regulation of embryonic pattern specification Any process that activates or increases the frequency, rate or extent of embryonic pattern specification. tmpxe7fu0cj_hp_relaxed.owl up-regulation of ventral/lateral system|up regulation of ventral/lateral system|up regulation of embryonic pattern specification|upregulation of embryonic pattern specification|positive regulation of ventral/lateral system|up-regulation of embryonic pattern specification|upregulation of ventral/lateral system|activation of ventral/lateral system|activation of embryonic pattern specification mr 2014-04-03T15:25:26Z biological_process owl:Class HP:0009376 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 5th finger Aplasia/Hypoplasia of the phalanges of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Absent/small pinkie finger bones|Absent/small pinky finger bones|Absent/small little finger bones|Absent/underdeveloped pinky finger bones UMLS:C4024410 doelkens 2009-01-13T11:58:25Z human_phenotype owl:Class HP:0020107 biolink:NamedThing Unusual helminthic infection An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth). tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 19:28:54+00:00 robinp owl:Class HP:0032534 biolink:NamedThing Exacerbated by methylxanthine ingestion Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate). tmpxe7fu0cj_hp_relaxed.owl Methylxanthines produce worsening 2019-05-27 13:08:24+00:00 peter owl:Class CHEBI:32661 biolink:NamedThing asparaginium tmpxe7fu0cj_hp_relaxed.owl H2asp(+)|asparaginium|asparagine cation|3-amino-1-carboxy-3-oxopropan-1-aminium +1 C4H9N2O3 InChI=1S/C4H8N2O3/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H2,6,7)(H,8,9)/p+1 DCXYFEDJOCDNAF-UHFFFAOYSA-O 133.12594 133.06077 NC(=O)CC([NH3+])C(O)=O chebi_ontology owl:Class HP:0005828 biolink:NamedThing Transient pulmonary infiltrates tmpxe7fu0cj_hp_relaxed.owl UMLS:C3805920 human_phenotype owl:Class HP:0002113 biolink:NamedThing Pulmonary infiltrates tmpxe7fu0cj_hp_relaxed.owl Lung infiltrates|Pulmonic infiltration UMLS:C0235896 human_phenotype owl:Class CL:0000129 biolink:NamedThing microglial cell A central nervous system macrophage found in the parenchyma of the central nervous system. Marker include CD11b-positive, F4/80-positive, and CD68-positive. tmpxe7fu0cj_hp_relaxed.owl MF.microglia.CNS|hortega cells|brain-resident macrophage|microglia|brain macrophage|microgliocyte FMA:54540|FMA:54539|BTO:0000962|BTO:0000078 Markers: Mouse: CD11b+, F4/80+, CD68+. They represent ~12% of the cells in the CNS, but they are not uniformly distributed within the CNS. A normal adult mouse brain has approximately 3.5x10e6 microglia. Microglia are also reportedly CD3-negative, CD4-positive, CD8-negative, CD11b-positive, CD11c-high, CD14-negative, CD19-negative, CD45-low, CD56-negative, CD163-negative, CD200R-positive, CD281-positive, CD282-positive, CD283-positive, CD284-positive, CD285-positive, CD286-positive, CD287-positive, CD288-positive, CD289-positive, Gr1-negative, nestin-positive, and PU.1-positive. cell owl:Class CL:0000878 biolink:NamedThing central nervous system macrophage A tissue-resident macrophage found in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl CNS macrophage cell owl:Class HP:0001737 biolink:NamedThing Pancreatic cysts A cyst of the pancreas that possess a lining of mucous epithelium. tmpxe7fu0cj_hp_relaxed.owl Pancreatic cyst|Pancreatic cysts|Multiple pancreatic cysts UMLS:C0030283|MSH:D010181|UMLS:C1860394|SNOMEDCT_US:31258000 Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium. human_phenotype owl:Class HP:0012090 biolink:NamedThing Abnormal pancreas morphology tmpxe7fu0cj_hp_relaxed.owl Abnormality of pancreas morphology|Abnormally shaped pancreas UMLS:C4023049 peter 2012-08-20T09:16:38Z owl:Class UBERON:0010284 biolink:NamedThing lacrimal punctum A minute orifice on the summit of the papillae lacrimales, which is the commencement point of the lacrimal canaliculi. tmpxe7fu0cj_hp_relaxed.owl lacrimal puncta|puncta lacrimalia|lacrimal point FMA:59365 http://upload.wikimedia.org/wikipedia/commons/5/53/Gray895.png uberon owl:Class collect tears produced by the lacrimal glands UBERON:0001649 biolink:NamedThing glossopharyngeal nerve Cranial nerve that branches into the ramus communicans (to the skin), the pretrematic (to the walls of the pharynx and mouth, viscero-sensory fibers), and the larval post-trematic branch (lost in the adult). tmpxe7fu0cj_hp_relaxed.owl glossopharyngeal IX|cranial nerve IX|ninth cranial nerve|nerve IX|glossopharyngeal nerve tree|CN-IX|glossopharyngeal nerve [IX]|nervus glossopharyngeus|9n|nervus glossopharyngeus [ix]|glossopharyngeal IX nerve XAO:0003096|NCIT:C12723|FMA:50870|MA:0001093|MESH:D005930|EHDAA:3733|OpenCyc:Mx4rwIr5X5wpEbGdrcN5Y29ycA|Wikipedia:Glossopharyngeal_nerve|ZFA:0000668|EMAPA:17268|TAO:0000668|BAMS:IXn|BTO:0004979|UMLS:C1305752|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=701|EHDAA2:0000709|MBA:808|VHOG:0000701|BIRNLEX:899|BAMS:9n|GAID:827|AAO:0010474|HBA:9334|UMLS:C0017679|SCTID:362465002 http://upload.wikimedia.org/wikipedia/commons/5/5e/Gray791.png uberon owl:Class Small nerve consisting of branchiomotor and visceral efferent and afferent fibers which innervate the m. subarculais rectus I, dorsal buccal mucosa, and the tongue.[AAO] We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...) (reference 1); Phylogenetically, the cranial nerves are thought to have evolved from dorsal and ventral nerves of a few anterior spinal nerves that became incorporated into the braincase. Dorsal and ventral nerves fuse in the trunk but not in the head, and they produce two series: dorsal cranial nerves (V, VII, IX, and X) and ventral cranial nerves (III, IV, VI, and XIII) (reference 2).[well established][VHOG] UBERON:0001785 biolink:NamedThing cranial nerve Cranial nerves are nerves that emerge directly from the brain, in contrast to spinal nerves, which emerge from segments of the spinal cord. tmpxe7fu0cj_hp_relaxed.owl nervus cranialis|cranial nerves|cranial neural tree organ XAO:0003089|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1227|TAO:0000641|ZFA:0000641|NCIT:C12700|FMA:5865|BIRNLEX:1623|HBA:9299|SCTID:244447006|BAMS:cran|GAID:802|OpenCyc:Mx4rvWvJVpwpEbGdrcN5Y29ycA|AAO:0000108|MA:0000215|VHOG:0000279|Wikipedia:Cranial_nerve|MESH:D003391|BTO:0001104|XAO:0000429|EMAPA:17264|MBA:967|UMLS:C1269897|UMLS:C0010268|EHDAA2:0000323 http://upload.wikimedia.org/wikipedia/commons/1/18/Brain_human_normal_inferior_view_with_labels_en-2.svg|http://upload.wikimedia.org/wikipedia/commons/8/84/Brain_human_normal_inferior_view_with_labels_en.svg classified as neural tree organ, not nerve in FMA. CN II poses a challenge here as it is not strictly a nerve, yet is expected to be classified under CN. uberon owl:Class Twelve pairs of cranial nerves exit/enter the cranium through openings in the skull. The nerves contain efferent axons with motor and glandular functions, as well as afferent axons from cranial ganglia with sensory functions. The nerves are numbered in a rostral to caudal sequence, with the exception of the lateral line nerves.[TAO] We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...).[well established][VHOG] See https://github.com/obophenotype/mouse-anatomy-ontology/issues/6 UBERON:0011250 biolink:NamedThing autopod bone A bone that is part of a autopod region. Note that this incudes the carpal and tarsal bones. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class https://github.com/obophenotype/uberon/wiki/Skeleton-partonomy-Design-Pattern GO:0002063 biolink:NamedThing chondrocyte development The process whose specific outcome is the progression of a chondrocyte over time, from its commitment to its mature state. Chondrocyte development does not include the steps involved in committing a chondroblast to a chondrocyte fate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0001449 biolink:NamedThing Duplication of metatarsal bones tmpxe7fu0cj_hp_relaxed.owl Duplication of long bones of foot UMLS:C4025778 peter 2008-04-17T02:37:00Z human_phenotype owl:Class HP:0009819 biolink:NamedThing Lower limb phocomelia Phocomelia affecting only the lower limbs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0265625|SNOMEDCT_US:253963009 doelkens 2009-02-23T05:11:07Z human_phenotype owl:Class HP:0009829 biolink:NamedThing Phocomelia Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). tmpxe7fu0cj_hp_relaxed.owl MSH:D004480|MEDDRA:10034923|SNOMEDCT_US:22841008|UMLS:C0031575 doelkens 2009-02-23T05:17:25Z HP:0002994 human_phenotype owl:Class CHEBI:20067 biolink:NamedThing 3-hydroxybutyric acid A straight-chain 3-hydroxy monocarboxylic acid comprising a butyric acid core with a single hydroxy substituent in the 3- position; a ketone body whose levels are raised during ketosis, used as an energy source by the brain during fasting in humans. Also used to synthesise biodegradable plastics. tmpxe7fu0cj_hp_relaxed.owl 3 HBA|DL-beta-Hydroxybutyric acid|3-Hydroxybuttersaeure|(1)-3-Hydroxybutyric acid|beta-hydroxy-n-butyric acid|beta-Hydroxy-n-butyric acid|beta-Hydroxybuttersaeure|3-hydroxybutanoic acid|BHBA|3-OH-butyric acid|beta-hydroxybutanoic acid|beta-hydroxybutyric acid 0 C4H8O3 InChI=1S/C4H8O3/c1-3(5)2-4(6)7/h3,5H,2H2,1H3,(H,6,7) WHBMMWSBFZVSSR-UHFFFAOYSA-N 104.10452 104.04734 CC(O)CC(O)=O HMDB:HMDB0000357|Beilstein:773861|PMID:17190852|Reaxys:773861|Wikipedia:3-hydroxybutyrate|LIPID_MAPS_instance:LMFA01050005|CAS:300-85-6|PMID:10855969|PMID:17579249|PMID:6061736 chebi_ontology owl:Class CHEBI:24684 biolink:NamedThing hydroxybutyric acid Any compound comprising a butyric acid core carrying at least one hydroxy substituent. tmpxe7fu0cj_hp_relaxed.owl hydroxybutanoic acids|hydroxybutanoic acid|hydroxybutyric acids 0 C4H8O3 104.105 104.04734 chebi_ontology owl:Class GO:0051596 biolink:NamedThing methylglyoxal catabolic process The chemical reactions and pathways resulting in the breakdown of methylglyoxal, CH3-CO-CHO, the aldehyde of pyruvic acid. tmpxe7fu0cj_hp_relaxed.owl methylglyoxal breakdown|methylglyoxal degradation|methylglyoxal catabolism MetaCyc:METHGLYUT-PWY|MetaCyc:Methylglyoxal-Detoxification biological_process owl:Class GO:0009438 biolink:NamedThing methylglyoxal metabolic process The chemical reactions and pathways involving methylglyoxal, CH3-CO-CHO, the aldehyde of pyruvic acid. tmpxe7fu0cj_hp_relaxed.owl methylglyoxal pathway|methylglyoxal metabolism|methylglyoxal bypass MetaCyc:METHGLYUT-PWY biological_process owl:Class GO:0046879 biolink:NamedThing hormone secretion The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0004227 biolink:NamedThing Short distal phalanx of the 5th finger Hypoplastic/small distal phalanx of the fifth finger. tmpxe7fu0cj_hp_relaxed.owl Fifth digit distal phalangeal hypoplasia|Short outermost little finger bone|Short outermost pinky finger bone|Hypoplastic/small terminal phalanx of the little finger|Short distal phalanx of the fifth finger|Brachytelophalangism V|Short outermost pinkie finger bone UMLS:C1836674 HP:0006171 human_phenotype owl:Class HP:0031962 biolink:NamedThing Elevated serum anion gap An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). tmpxe7fu0cj_hp_relaxed.owl 2018-07-07 14:29:56+00:00 Elevated values of the serum anion gap most commonly indicate metabolic acidosis but can reflect laboratory error, metabolic alkalosis, hyperphosphatemia, or paraproteinemia. Metabolic acidosis can be divided into high anion and normal anion gap varieties, which can be present alone or concurrently. peter owl:Class UBERON:0000415 biolink:NamedThing artery wall An anatomical wall that is part of an artery [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl arterial wall|wall of artery FMA:14155|BTO:0002009|galen:ArterialWall uberon owl:Class UBERON:0012486 biolink:NamedThing muscle layer of cloaca A muscular coat that is part of a cloaca. tmpxe7fu0cj_hp_relaxed.owl smooth muscle of cloaca|muscularis externa of cloaca uberon owl:Class CHEBI:38496 biolink:NamedThing electron-transport chain inhibitor tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:76932 biolink:NamedThing pathway inhibitor An enzyme inhibitor that interferes with one or more steps in a metabolic pathway. tmpxe7fu0cj_hp_relaxed.owl metabolic pathway inhibitors|pathway inhibitors|metabolic pathway inhibitor chebi_ontology owl:Class HP:0100484 biolink:NamedThing Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal tmpxe7fu0cj_hp_relaxed.owl Fused innermost bones of third toe with 3rd long bone of foot UMLS:C4022047 human_phenotype owl:Class HP:0011502 biolink:NamedThing Posterior lenticonus A conical projection of the posterior surface of the lens, occurring as a developmental anomaly. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0344263|SNOMEDCT_US:95482000 peter 2012-04-04T07:55:12Z human_phenotype owl:Class HP:0001142 biolink:NamedThing Lenticonus A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0239119|SNOMEDCT_US:253221000 A conical projection of the anterior or posterior surface of the lens. human_phenotype owl:Class CL:0000255 biolink:NamedThing eukaryotic cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0004690 biolink:NamedThing Thickened Achilles tendon An abnormal thickening of the Achilles tendon. tmpxe7fu0cj_hp_relaxed.owl Thickened Achilles tendon UMLS:C0919997 human_phenotype owl:Class HP:0100011 biolink:NamedThing Scleral schwannoma tmpxe7fu0cj_hp_relaxed.owl NCIT:C3269|UMLS:C4022390 doelkens 2010-05-14T09:41:55Z human_phenotype owl:Class HP:0003134 biolink:NamedThing Abnormality of peripheral nerve conduction An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). tmpxe7fu0cj_hp_relaxed.owl Sensory and motor nerve conduction abnormalities|Abnormal peripheral nerve transmission UMLS:C4020690 A nerve conduction study (NCS) is commonly conducted together with electromyography in order to evaluate muscle disorders. For the NCS, dermal electrodes are placed at intervals over the nerve to be examined, and a low-intensity current is introducted to generate action potentials. The velocity of the action potential is related to the diameter of the nerve fiber and the presence of a myelin sheath. Diseases of the myelin sheath characteristically reduce the nerve conduction velocity (NCV). The amplitude of the response is also measured. HP:0007186|HP:0006832 human_phenotype owl:Class HP:0011839 biolink:NamedThing Abnormal T cell count A deviation from the normal count of T cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal number of T cells|Abnormality of T cell number UMLS:C4021113 peter 2012-05-06T10:43:44Z human_phenotype owl:Class HP:0002843 biolink:NamedThing Abnormal T cell morphology An abnormality of T cells. tmpxe7fu0cj_hp_relaxed.owl Abnormality of T cells|Defective cellular immunity|Abnormal T cells|Cellular immune defect UMLS:C1855752 T-cells are lymphocytes whose principle function in the adaptive immune system is to mediate cell-mediated immunity. HP:0002734|HP:0030332 human_phenotype owl:Class HP:0000885 biolink:NamedThing Broad ribs Increased width of ribs tmpxe7fu0cj_hp_relaxed.owl Broad ribs|Wide ribs UMLS:C1848654 HP:0000950|HP:0006667|HP:0000903 human_phenotype owl:Class HP:0100109 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the outermost bone of the 2nd toe UMLS:C4022312 doelkens 2010-06-24T10:04:20Z human_phenotype owl:Class HP:0100088 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the outermost bone of the 2nd toe UMLS:C4022333 doelkens 2010-06-24T10:01:42Z human_phenotype owl:Class HP:0031069 biolink:NamedThing Abnormal femoral torsion Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 22:59:20+00:00 peter owl:Class HP:0002823 biolink:NamedThing Abnormality of femur morphology Any anomaly of the structure of the femur. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the femora|Abnormality of the thighbone UMLS:C4021750 The femur (plural: femora) is the thigh bone. HP:0001439 human_phenotype owl:Class GO:0060298 biolink:NamedThing positive regulation of sarcomere organization Any process that increases the rate, frequency or extent of myofibril assembly by organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. tmpxe7fu0cj_hp_relaxed.owl positive regulation of sarcomere organisation biological_process owl:Class UBERON:0003959 biolink:NamedThing rete testis An anastomosing network of delicate tubules located in the hilum of the testicle (mediastinum testis) that carries sperm from the seminiferous tubules to the vasa efferentia[WP]. tmpxe7fu0cj_hp_relaxed.owl Haller's rete MA:0003013|GAID:399|FMA:19834|EMAPA:18332|MESH:D012152|UMLS:C0035278|NCIT:C33467 http://upload.wikimedia.org/wikipedia/commons/b/b5/Hodenschema.svg add more specific classification e.g. anastomosing network - consider FMA:3726 uberon owl:Class UBERON:0035652 biolink:NamedThing fibular nerve Any nerve that innervates the fibularis. Includes the common fibular nerve, and its branches. tmpxe7fu0cj_hp_relaxed.owl peroneal nerve MESH:A08.800.800.720.450.760.640|EMAPA:36511 uberon owl:Class GO:0070960 biolink:NamedThing positive regulation of neutrophil mediated cytotoxicity Any process that increases the frequency, rate or extent of the directed killing of a target cell by a neutrophil. tmpxe7fu0cj_hp_relaxed.owl up-regulation of neutrophil mediated cytotoxicity|up regulation of neutrophil mediated cytotoxicity|upregulation of neutrophil mediated cytotoxicity|activation of neutrophil mediated cytotoxicity|stimulation of neutrophil mediated cytotoxicity|positive regulation of neutrophil mediated cell killing mah 2009-10-01T02:28:49Z biological_process owl:Class UBERON:0000941 biolink:NamedThing cranial nerve II Cranial nerve fiber tract which is comprised of retinal ganglion cell axons running posterior medially towards the optic chiasm, at which some of the axons cross the midline and after which the structure is termed the optic tract. Transmits visual information from the retina to the brain[ZFA]. tmpxe7fu0cj_hp_relaxed.owl nervus opticus [II]|2n|cranial II|CN-II|02 optic nerve|optic II|optic|second cranial nerve|nerve II|optic nerve|nervus opticus|optic nerve [II]|optic II nerve EMAPA:17575|BAMS:2n|NCIT:C12761|BIRNLEX:1640|MA:0001097|DHBA:15544|FMA:50863|EHDAA2:0001313|HBA:9307|UMLS:C0029130|ZFA:0000435|OpenCyc:Mx4rvVjLm5wpEbGdrcN5Y29ycA|BAMS:nII|XAO:0000188|VHOG:0000543|EFO:0004258|BAMS:IIn|CALOHA:TS-0713|MBA:848|AAO:0010345|MESH:D009900|EHDAA:6788|TAO:0000435|GAID:831|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=289 Do not classify under 'cranial nerve', as this is not a true nerve - should be classified as evaginated sensory afferent[ISBN:0471888893] uberon owl:Class A collection of nerve cells that project visual information from the eyes to the brain. (Source: BioGlossary, www.Biology-Text.com)[TAO]|Fibrous, somatic sensory element covered by a fibrous connective-tissue sheath and is continuous with the layer of nerve cells on the inner surface of the eye.[AAO] (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup (reference 1); The (optic) stalk persists as the optic nerve (reference 2).[well established][VHOG] (relaion to eye): MA, XAO, AAO and BTO consider this part of the eye. This is in contrast to GO, FMA, EHDAA2 (FMA has a class 'intra-ocular part of optic nerve' which represents the region of overlap). Relation to brain: part of diencephalon in EHDAA2, ZFA. In NIF, has the optic nerve root as part, which is a feature part of the diencphalon HP:0033811 biolink:NamedThing Abnormal circulating androstenedione concentration Any deviation from the normal concentration of androstenedione in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 11:53:48+00:00 peter owl:Class GO:0002887 biolink:NamedThing negative regulation of myeloid leukocyte mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte mediated immunity. tmpxe7fu0cj_hp_relaxed.owl downregulation of myeloid leukocyte mediated immunity|down-regulation of myeloid leukocyte mediated immunity|down regulation of myeloid leukocyte mediated immunity|inhibition of myeloid leukocyte mediated immunity biological_process owl:Class CHEBI:17883 biolink:NamedThing hydrogen chloride A mononuclear parent hydride consisting of covalently bonded hydrogen and chlorine atoms. tmpxe7fu0cj_hp_relaxed.owl cloruro de hidrogeno|[HCl]|hydrochloric acid|Wasserstoffchlorid|chlorane|Hydrochloride|Hydrogenchlorid|hydrogen chloride|chloridohydrogen|Hydrogen chloride|HCl|Chlorwasserstoff|chlorure d'hydrogene 0 ClH|HCl InChI=1S/ClH/h1H VEXZGXHMUGYJMC-UHFFFAOYSA-N 36.46064 35.97668 Cl[H] Reaxys:1098214|Wikipedia:Hydrochloric_acid|CAS:7647-01-0|MetaCyc:HCL|PMID:15823700|PMID:22804993|KEGG:D02057|KEGG:C01327|Wikipedia:HCl|Gmelin:322|PMID:17492841|Drug_Central:4568|HMDB:HMDB0002306 CHEBI:24635|CHEBI:5590|CHEBI:13364 chebi_ontology owl:Class CHEBI:23117 biolink:NamedThing chlorine molecular entity A halogen molecular entity containing one or more atoms of chlorine. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CL:0002199 biolink:NamedThing oxyphil cell of parathyroid gland An oncocyte located in the parathyroid gland. tmpxe7fu0cj_hp_relaxed.owl FMA:69084 tmeehan 2010-09-02T11:33:23Z cell owl:Class CL:0002198 biolink:NamedThing oncocyte A large epithelial cell with an extremely acidophilic and granular cytoplasm, containing vast numbers of mitochondria; such cells may undergo neoplastic transformation. From the Greek word onkos meaning swelling, this cell type is found in parathyroid, salivary and thyroid glands. tmpxe7fu0cj_hp_relaxed.owl oxyphil FMA:67606 tmeehan 2010-09-02T11:26:49Z cell owl:Class GO:0060268 biolink:NamedThing negative regulation of respiratory burst Any process that decreases the rate frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009967 biolink:NamedThing Complete duplication of the proximal phalanx of the 3rd finger Complete duplication of the third proximal phalanx of hand. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the innermost bone of the 3rd finger UMLS:C4024139 doelkens 2009-05-26T12:49:35Z human_phenotype owl:Class HP:0009960 biolink:NamedThing Complete duplication of the phalanges of the 3rd finger A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of middle finger bones UMLS:C4024143 doelkens 2009-05-26T12:46:36Z human_phenotype owl:Class GO:0050864 biolink:NamedThing regulation of B cell activation Any process that modulates the frequency, rate or extent of B cell activation. tmpxe7fu0cj_hp_relaxed.owl regulation of B lymphocyte activation|regulation of B-cell activation|regulation of B-lymphocyte activation biological_process owl:Class GO:0051249 biolink:NamedThing regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte activation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0007406 biolink:NamedThing Hyperpigmentation of eyelids tmpxe7fu0cj_hp_relaxed.owl Dark eyelids|Brown eyelids|Pigmentation of eyelids MSH:C562400|UMLS:C0854438|UMLS:C4280440|SNOMEDCT_US:41115008|UMLS:C0155211 human_phenotype owl:Class UBERON:0007271 biolink:NamedThing appendage musculature Any collection of muscles that is part of an appendage. tmpxe7fu0cj_hp_relaxed.owl fin musculature ZFA:0000207|TAO:0000207 currently defined by location rather than attachment uberon owl:Class GO:0040008 biolink:NamedThing regulation of growth Any process that modulates the frequency, rate or extent of the growth of all or part of an organism so that it occurs at its proper speed, either globally or in a specific part of the organism's development. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:47857 biolink:NamedThing ureas tmpxe7fu0cj_hp_relaxed.owl urea derivatives CHEBI:27220|CHEBI:36947 chebi_ontology owl:Class HP:0033737 biolink:NamedThing Grade III vesicoureteral reflux Vesicoureteral reflux with dilatation of the collecting system. tmpxe7fu0cj_hp_relaxed.owl VUR III|Grade III VUR 2021-04-16 14:04:17+00:00 peter owl:Class UBERON:0012054 biolink:NamedThing myocoele The cavity within a myotome. tmpxe7fu0cj_hp_relaxed.owl EMAPA:31134|VHOG:0001283 uberon owl:Class The central cavity within the mesoderm is the paired primary or embryonic coelom. Parts of the embryonic coelom often become enclosed in the mesoderm, forming a myocoel within the epimere, a nephrocoel within the mesomere, and simple coelom (body cavity) within the lateral plate mesoderm.[well established][VHOG] HP:0009115 biolink:NamedThing Aplasia/hypoplasia involving the skeleton Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped skeleton|Absent/small skeleton UMLS:C4024592 peter 2008-04-05T10:53:00Z human_phenotype owl:Class UBERON:0010949 biolink:NamedThing sternooccipital muscle A muscle organ that has_muscle_insertion a occipital bone and has_muscle_origin a sternum. tmpxe7fu0cj_hp_relaxed.owl sternooccipital NCIT:C53069|UMLS:C1710196|MA:0002385|EMAPA:37702 uberon owl:Class HP:0008449 biolink:NamedThing Progressive cervical vertebral spine fusion tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851129 human_phenotype owl:Class HP:0002949 biolink:NamedThing Fused cervical vertebrae A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. tmpxe7fu0cj_hp_relaxed.owl Fusion of cervical vertebrae|Cervical spine fusion|Fused neck|Cervical vertebral fusion UMLS:C3887527 human_phenotype owl:Class GO:1903566 biolink:NamedThing positive regulation of protein localization to cilium Any process that activates or increases the frequency, rate or extent of protein localization to cilium. tmpxe7fu0cj_hp_relaxed.owl activation of protein localization to cilium|up-regulation of protein localization to cilium|up regulation of protein localization to cilium|upregulation of protein localization to cilium krc 2014-10-24T20:58:28Z biological_process owl:Class CHEBI:61313 biolink:NamedThing C21-steroid A steroid that has a structure based on a 21-carbon (pregnane) skeleton. Note that individual examples may have ring substituents at other positions and/or contain double bonds, aromatic A-rings, expanded/contracted rings etc., so the formula and mass may vary from that given for the generic structure. tmpxe7fu0cj_hp_relaxed.owl a C21-steroid 0 C21H36 InChI=1S/C21H36/c1-4-15-9-11-18-17-10-8-16-7-5-6-13-20(16,2)19(17)12-14-21(15,18)3/h15-19H,4-14H2,1-3H3 JWMFYGXQPXQEEM-UHFFFAOYSA-N 288.511 288.28170 C1CCCC2C1(C3C(CC2)C4C(CC3)(C(CC4)CC)C)C chebi_ontology owl:Class HP:0003696 biolink:NamedThing Absent epiphysis of the distal phalanx of the 5th finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Absent end part of the outermost bone of the pinkie finger|Absent end part of the outermost bone of the pinky finger|Absent end part of the outermost bone of the little finger UMLS:C4025577 peter 2008-12-22T01:37:43Z human_phenotype owl:Class HP:0009382 biolink:NamedThing Absent epiphyses of the 5th finger Absence of one or more epiphyses of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Absent end part of pinky finger bone|Absent end part of little finger bone|Absent end part of pinkie finger bone UMLS:C4024407 doelkens 2009-01-13T01:19:03Z human_phenotype owl:Class HP:0006906 biolink:NamedThing Congenital intracerebral calcification The presence of calcium deposition within brain structures that is present already at the time of birth. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024966 human_phenotype owl:Class UBERON:0004394 biolink:NamedThing epiphysis of fourth metacarpal bone An epiphysis that is part of a metacarpal bone of digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl metacarpal 4 epiphysis|fourth metacarpal bone epiphysis FMA:86329 uberon owl:Class HP:0033886 biolink:NamedThing Abnormal arcuate artery intima/media morphology Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla. tmpxe7fu0cj_hp_relaxed.owl Abnormalities of the arcuate arterial intima/media 2021-06-23 20:15:22+00:00 peter owl:Class HP:0033837 biolink:NamedThing Abnormal arcuate artery morphology Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla. tmpxe7fu0cj_hp_relaxed.owl Abnormalities of arcuate arteries 2021-05-16 17:30:06+00:00 peter owl:Class UBERON:0036658 biolink:NamedThing wall of central canal of spinal cord tmpxe7fu0cj_hp_relaxed.owl wall of central canal FMA:242780 uberon owl:Class CL:0000623 biolink:NamedThing natural killer cell A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells. tmpxe7fu0cj_hp_relaxed.owl large granular lymphocyte|NK cell|null cell BTO:0000914|CALOHA:TS-0664|FMA:83601|VHOG:0001697|BTO:0004716|FMA:63147 cell owl:Class UBERON:0009480 biolink:NamedThing endoderm of buccopharyngeal membrane An endoderm that is part of a buccopharyngeal membrane. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000191|EMAPA:16261 uberon owl:Class UBERON:0000925 biolink:NamedThing endoderm Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut. tmpxe7fu0cj_hp_relaxed.owl entoderm MESH:A16.254.425.407|FBbt:00000125|Wikipedia:Endoderm|MAT:0000175|MIAA:0000175|CALOHA:TS-0273|EMAPA:16062|NCIT:C12706|VHOG:0000154|UMLS:C0014144|FMA:69071|XAO:0000090|EHDAA2:0000436|AAO:0000139|SCTID:362855003|EV:0100005|GAID:1305|TAO:0000017|BILA:0000038|EFO:0002545|ZFA:0000017|BTO:0000800 http://upload.wikimedia.org/wikipedia/commons/c/c0/Endoderm2.png|http://upload.wikimedia.org/wikipedia/commons/d/df/Gray10.png uberon owl:Class The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG] endodermal GO:1905483 biolink:NamedThing regulation of motor neuron migration Any process that modulates the frequency, rate or extent of motor neuron migration. tmpxe7fu0cj_hp_relaxed.owl hbye 2016-09-23T12:49:54Z biological_process owl:Class HP:0025611 biolink:NamedThing Epicanthus superciliaris A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye). tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 22:58:02+00:00 HPO:probinson owl:Class HP:0000286 biolink:NamedThing Epicanthus A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. tmpxe7fu0cj_hp_relaxed.owl Epicanthic folds|Eye folds|Plica palpebronasalis|Palpebronasal fold|Prominent eye folds|Epicanthal fold|Epicanthal folds UMLS:C0678230 In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. HP:0000624|HP:0007930 human_phenotype owl:Class GO:2000611 biolink:NamedThing positive regulation of thyroid hormone generation tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0410184 biolink:NamedThing Abnormal glucose-6-phosphate dehydrogenase level in red blood cells An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal G6PD level in red blood cells|Abnormal G6PD level in RBCs 2018-05-21 18:01:06+00:00 owl:Class UBERON:0010560 biolink:NamedThing pedal digit 4 metatarsal cartilage element A pedal digit metatarsal cartilage element that is part of a pedal digit 4 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl foot digit 4 metatarsal cartilage element|toe 4 metatarsal cartilage element|hind limb digit 4 metatarsal cartilage condensation|pedal digit IV metatarsal cartilage element EMAPA:18121 uberon owl:Class UBERON:0015040 biolink:NamedThing pedal digit 4 metatarsal endochondral element A pedal digit 4 metatarsal bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl pedal digit IV metatarsal endochondral element|pedal digit 4 metatarsal element|pedal digit 4 metatarsal skeletal element uberon owl:Class HP:0041239 biolink:NamedThing Fractured manual digit 1 phalanx A partial or complete breakage of the manual digit 1 phalanx. tmpxe7fu0cj_hp_relaxed.owl bone manual digit 1 phalanx owl:Class UBERON:0035435 biolink:NamedThing right suprarenal vein A vein that drains blood from the right adrenal gland into the inferior vena cava. tmpxe7fu0cj_hp_relaxed.owl vena suprarenalis (adrenalis) dextra FMA:14343|NCIT:C53131 uberon owl:Class UBERON:0001146 biolink:NamedThing suprarenal vein A vein that drains the adrenal gland. tmpxe7fu0cj_hp_relaxed.owl adrenal vein UMLS:C0226717|MA:0002229|EHDAA:8731|MA:0002081|NCIT:C53129|EHDAA2:0001966|FMA:14348 http://upload.wikimedia.org/wikipedia/commons/7/76/Gray1122.png uberon owl:Class UBERON:0009871 biolink:NamedThing nephrogenic zone Outer portion of the renal cortex. Site of formation of medullary and cortical elements. tmpxe7fu0cj_hp_relaxed.owl nephrogenic tissue|cortical nephrogenic zone|cortical nephrogenic niche EMAPA:27721|MA:0002996 uberon owl:Class see http://www.ncbi.nlm.nih.gov/pubmed/12761251 for description of nephrogenic zone in dogfish. GO:1904344 biolink:NamedThing regulation of gastric mucosal blood circulation Any process that modulates the frequency, rate or extent of gastric mucosal blood circulation. tmpxe7fu0cj_hp_relaxed.owl regulation of stomach mucosal blood circulation sl 2015-06-11T21:20:31Z biological_process owl:Class GO:0031273 biolink:NamedThing negative regulation of pseudopodium assembly Any process that stops, prevents, or reduces the frequency, rate or extent of the assembly of pseudopodia. tmpxe7fu0cj_hp_relaxed.owl negative regulation of pseudopodium formation|down regulation of pseudopodium formation|downregulation of pseudopodium formation|down-regulation of pseudopodium formation|inhibition of pseudopodium formation biological_process owl:Class HP:0006531 biolink:NamedThing Pleural lymphangiectasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856139 human_phenotype owl:Class GO:2001022 biolink:NamedThing positive regulation of response to DNA damage stimulus Any process that activates or increases the frequency, rate or extent of response to DNA damage stimulus. tmpxe7fu0cj_hp_relaxed.owl positive regulation of DNA damage response|positive regulation of cellular response to DNA damage stimulus|positive regulation of cellular DNA damage response|positive regulation of response to genotoxic stress yaf 2011-08-19T10:20:33Z biological_process owl:Class HP:0031067 biolink:NamedThing Empty ovarian follicle A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization. tmpxe7fu0cj_hp_relaxed.owl Empty follicle syndrome 2017-05-28 22:37:49+00:00 Empty follicle syndrome (EFS) has been defined as a condition in which no oocytes are retrieved from mature ovarian follicles with apparently normal follicular development and estradiol levels, after COH for an assisted reproductive technology (ART) cycle, despite repeated aspiration and flushing. peter owl:Class GO:0045137 biolink:NamedThing development of primary sexual characteristics The process whose specific outcome is the progression of the primary sexual characteristics over time, from their formation to the mature structures. The primary sexual characteristics are the testes in males and the ovaries in females and they develop in response to sex hormone secretion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class NBO:0000961 biolink:NamedThing increased frequency of drinking tmpxe7fu0cj_hp_relaxed.owl owl:Class NBO:0000929 biolink:NamedThing frequency of drinking tmpxe7fu0cj_hp_relaxed.owl 'participates in' some ('regulation of drinking behavior' and (has_quality some (frequency and (towards some 'liquid consumption')))) owl:Class HP:0010378 biolink:NamedThing Triangular shaped phalanges of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Triangular shaped bones of 4th toe UMLS:C4023871 doelkens 2009-07-16T11:51:46Z human_phenotype owl:Class HP:0010336 biolink:NamedThing Abnormality of the phalanges of the 4th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023896 doelkens 2009-07-16T11:41:21Z owl:Class UBERON:0012314 biolink:NamedThing embryonic facial prominence One of five swellings formed during the development of the face. tmpxe7fu0cj_hp_relaxed.owl facial primordium|embryonic facial process|primordium of face FMA:293103|SCTID:89066004 uberon owl:Class UBERON:0004883 biolink:NamedThing lung mesenchyme The mass of tissue made up of mesenchymal cells in the lung. tmpxe7fu0cj_hp_relaxed.owl lung-associated mesenchyme|mesenchyme of lung|pulmonary mesenchyme EMAPA:32866 uberon owl:Class HP:0012289 biolink:NamedThing Facial neoplasm A tumor (abnormal growth of tissue) of the face. tmpxe7fu0cj_hp_relaxed.owl Face tumor|Face tumour MSH:D005153|UMLS:C0015461|NCIT:C3262|SNOMEDCT_US:126632002 peter 2013-04-11T05:46:35Z human_phenotype owl:Class UBERON:0002234 biolink:NamedThing proximal phalanx of manus A proximal phalanx that is part of a finger [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal phalanx of fore digit|proximal phalanx of finger|proximal phalanx of hand|hand proximal phalanx|proximal phalanx of manual digit|proximal manual phalanx|phalanx proximalis manus UMLS:C0730117|EMAPA:37307|FMA:75816|NCIT:C52786|MA:0001395 uberon owl:Class HP:0005607 biolink:NamedThing Abnormal tracheobronchial morphology tmpxe7fu0cj_hp_relaxed.owl Tracheobronchial anomalies Fyler:4232|UMLS:C4021631 peter 2008-03-28T09:03:00Z HP:0005940 human_phenotype owl:Class HP:0033318 biolink:NamedThing Fibrocellular crescent A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 13:33:28+00:00 peter owl:Class HP:0008407 biolink:NamedThing Hyperconvex thumb nails tmpxe7fu0cj_hp_relaxed.owl Tightly curved thumb nail UMLS:C1855290 human_phenotype owl:Class GO:0010676 biolink:NamedThing positive regulation of cellular carbohydrate metabolic process Any process that increases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010418 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the outermost bone of the 2nd toe UMLS:C4023838 doelkens 2009-07-16T12:44:41Z human_phenotype owl:Class UBERON:0015008 biolink:NamedThing thoracic vertebra endochondral element A vertebral endochondral element in the thoracic region of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl thoracic vertebra skeletal element|thoracic vertebra element uberon owl:Class UBERON:0001740 biolink:NamedThing arytenoid cartilage The paired triangular laryngeal cartilages located postlaterally at the level of the thyroid cartilage. tmpxe7fu0cj_hp_relaxed.owl cartilago arytaenoidea|arytenoid|cartilagines arytenoidea|cartilago arytenoidea|arytenoids UMLS:C0003943|FMA:55109|MESH:A02.165.507.083|NCIT:C32148|GAID:109|MA:0001759|EMAPA:18695|EMAPA:17977|AAO:0000674 http://upload.wikimedia.org/wikipedia/commons/f/fa/Gray950.png uberon owl:Class Paired, anteroposteriorly elongated cartilages that are associated with the vocal cords. These cartilages are medially separated and hemispherical, and their concave side faces ventromedially.[AAO] GO:0003169 biolink:NamedThing coronary vein morphogenesis The process in which the anatomical structures of veins of the heart are generated and organized. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-08T10:45:41Z biological_process owl:Class HP:0031036 biolink:NamedThing Reduced growth-hormone binding protein level A decreased blood concentration of growth hormone binding protein. tmpxe7fu0cj_hp_relaxed.owl Decreased plasma GH-binding protein 2017-05-27 11:34:42+00:00 peter owl:Class CHEBI:46629 biolink:NamedThing oxo group tmpxe7fu0cj_hp_relaxed.owl OXO GROUP|=O|oxo 0 O 15.99940 15.99491 O=* PDBeChem:O CHEBI:44607|CHEBI:29353 chebi_ontology owl:Class HP:0001493 biolink:NamedThing Falciform retinal fold An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset. tmpxe7fu0cj_hp_relaxed.owl Congenital retinal fold UMLS:C0344550|SNOMEDCT_US:204181009 HP:0008013 human_phenotype owl:Class HP:0008052 biolink:NamedThing Retinal fold A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. tmpxe7fu0cj_hp_relaxed.owl Retinal folds UMLS:C0229197|SNOMEDCT_US:37480005 peter 2008-04-02T01:37:00Z human_phenotype owl:Class HP:0011961 biolink:NamedThing Non-obstructive azoospermia Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. tmpxe7fu0cj_hp_relaxed.owl Testicular azoospermia UMLS:C4021107 peter 2012-07-16T12:22:54Z human_phenotype owl:Class HP:0000027 biolink:NamedThing Azoospermia Absence of any measurable level of sperm in his semen. tmpxe7fu0cj_hp_relaxed.owl Absent sperm in semen SNOMEDCT_US:425558002|UMLS:C0004509|SNOMEDCT_US:48188009|MSH:D053713 human_phenotype owl:Class HP:0032195 biolink:NamedThing Abnormal S wave Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart. tmpxe7fu0cj_hp_relaxed.owl 2019-01-19 13:30:36+00:00 peter owl:Class HP:0012249 biolink:NamedThing Abnormal ST segment An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022993 peter 2013-04-07T08:56:46Z human_phenotype owl:Class GO:0060379 biolink:NamedThing cardiac muscle cell myoblast differentiation The process in which a relatively unspecialized cell acquires specialized features of a cardiac myoblast. A cardiac myoblast is a precursor cell that has been committed to a cardiac muscle cell fate but retains the ability to divide and proliferate throughout life. tmpxe7fu0cj_hp_relaxed.owl myocardial precursor cell differentiation|cardiac myoblast differentiation biological_process owl:Class GO:0010002 biolink:NamedThing cardioblast differentiation The process in which a relatively unspecialized mesodermal cell acquires the specialized structural and/or functional features of a cardioblast. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating. tmpxe7fu0cj_hp_relaxed.owl cardiomyocyte generation|cardioblast cell differentiation|cardiac precursor cell differentiation biological_process owl:Class HP:0040243 biolink:NamedThing Prolonged euglobulin clot lysis time Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280705 This term has been requested and created by members of the BRIDGE consortium owl:Class HP:0040224 biolink:NamedThing Abnormality of fibrinolysis Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis) tmpxe7fu0cj_hp_relaxed.owl Abnormality of the fibrinolytic system UMLS:C4280719 requested and created by members of the BRIDGE consortium owl:Class HP:0004039 biolink:NamedThing Abnormality of ulnar metaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025424 human_phenotype owl:Class UBERON:0001259 biolink:NamedThing mucosa of urinary bladder The mucous membrane lining the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl tunica mucosa vesicae|bladder mucous membrane|bladder organ mucosa|tunica mucosa (vesica urinaria)|urinary bladder mucous membrane|mucous membrane of urinary bladder|urinary bladder mucosa|bladder mucosa|mucous membrane of bladder|tunica mucosa vesicae urinariae|mucosa of bladder MA:0001692|UMLS:C0227691|galen:MucousMembraneOfUrinaryBladder|NCIT:C32205|EFO:0000293|FMA:15928|EMAPA:35897 uberon owl:Class HP:0009247 biolink:NamedThing Abnormality of the epiphysis of the middle phalanx of the 4th finger tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the middle bone of the ring finger UMLS:C4024500 doelkens 2009-01-07T11:29:14Z human_phenotype owl:Class GO:0062033 biolink:NamedThing positive regulation of mitotic sister chromatid segregation Any process that starts or increases the frequency, rate or extent of sister chromatid segregation during mitosis. tmpxe7fu0cj_hp_relaxed.owl dph 2018-04-23T14:32:23Z biological_process owl:Class UBERON:0010083 biolink:NamedThing future dermis Mesenchyme that has the potential to develop into a dermis. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000598 check development uberon owl:Class UBERON:0003690 biolink:NamedThing fused sacrum A collection of sacral vertebrae in the sacral region that are fused and part of the bony pelvis. tmpxe7fu0cj_hp_relaxed.owl sacrum [sacral vertebrae I-V]|sacrum|sacrum [sacral vertebrae I - V]|os sacrum|os sacrum [vertebrae sacrales I - V]|sacral bone MESH:D012447|EFO:0003071|GAID:241|CALOHA:TS-2201|galen:Sacrum|NCIT:C33508|OpenCyc:Mx4rvmBKnJwpEbGdrcN5Y29ycA|FMA:16202 http://upload.wikimedia.org/wikipedia/commons/e/ec/Gray95.png uberon owl:Class sacral the AAO class 'sacrum' is deliberately placed under 'sacral vertebra' rather than here CHEBI:60308 biolink:NamedThing 3,3',5-triiodo-L-thyroninate The anion resulting from the removal of the proton from the carboxylic acid group of 3,3',5-triiodo-L-thyronine. tmpxe7fu0cj_hp_relaxed.owl liothyronine(1-)|liothyronine anion|3,3',5-triiodo-L-thyronine(1-)|(2S)-2-amino-3-[4-(4-hydroxy-3-iodophenoxy)-3,5-diiodophenyl]propanoate|3,3',5-triiodo-L-thyronine anion|(2S)-2-amino-3-[4-(4-hydroxy-3-iodophenoxy)-3,5-diiodophenyl]propionate -1 C15H11I3NO4 InChI=1S/C15H12I3NO4/c16-9-6-8(1-2-13(9)20)23-14-10(17)3-7(4-11(14)18)5-12(19)15(21)22/h1-4,6,12,20H,5,19H2,(H,21,22)/p-1/t12-/m0/s1 AUYYCJSJGJYCDS-LBPRGKRZSA-M 649.96560 649.78277 N[C@@H](Cc1cc(I)c(Oc2ccc(O)c(I)c2)c(I)c1)C([O-])=O chebi_ontology owl:Class CHEBI:63477 biolink:NamedThing iodothyroninate An iodothyronine whose alpha carboxylic acid group of the tyrosine is ionized (not protonated). tmpxe7fu0cj_hp_relaxed.owl iodothyroninates chebi_ontology owl:Class UBERON:0013143 biolink:NamedThing gastrocnemius vein A vein that drains the gastrocnemius. tmpxe7fu0cj_hp_relaxed.owl vena gastrocnemii|vein of gastrocnemius muscle divided in medial gastrocnemius vein (vena medialis gastrocnemii), lateral gastrocnemius vein (vena lateralis gastrocnemii), and intergemellar vein (Vena intergemellaris), the vein ascending between the two heads of the gastrocnemius[http://www.veinsurg.com/fr/biblio/echodoppler/echodoppler_11.php] uberon owl:Class HP:0009609 biolink:NamedThing Duplication of the 1st metacarpal Partail or complete duplication of the first metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the 1st metacarpal|Partial/complete duplication of the 1st long bone of hand UMLS:C4021426 In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. This term applies if the first metacarpal is completely or partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal), a partially fused appearance of the two bones (in most cases the fused bone resembles a Y-shape), or two separate metacarpal bones appearing side to side. doelkens 2009-01-29T03:33:31Z human_phenotype owl:Class HP:0012587 biolink:NamedThing Macroscopic hematuria Hematuria that is visible upon inspection of the urine. tmpxe7fu0cj_hp_relaxed.owl Gross hematuria|Bloody urine UMLS:C0473237|SNOMEDCT_US:197941005 peter 2014-01-16T03:31:44Z human_phenotype owl:Class HP:0000790 biolink:NamedThing Hematuria The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). tmpxe7fu0cj_hp_relaxed.owl Blood in urine|High urine occult blood SNOMEDCT_US:34436003|SNOMEDCT_US:53298000|UMLS:C0018965|MSH:D006417 human_phenotype owl:Class HP:0033627 biolink:NamedThing Increased urine harderoporphyrin level Increased amount of harderoporphyrin in the urine. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 23:27:07+00:00 peter owl:Class HP:0010473 biolink:NamedThing Porphyrinuria Abnormally increased excretion of porphyrins in the urine. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:44574006|UMLS:C0151861 Porphyrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. One of the best-known porphyrins is heme. peter 2009-09-15T09:57:34Z owl:Class HP:0033188 biolink:NamedThing Cystic acne A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum. tmpxe7fu0cj_hp_relaxed.owl 2020-10-04 12:02:47+00:00 peter owl:Class HP:0001061 biolink:NamedThing Acne A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). tmpxe7fu0cj_hp_relaxed.owl Breaking out|Acne MEDDRA:10000496|SNOMEDCT_US:11381005|UMLS:C0702166 Acne can be a consequence of increased sebum production as a result of increased testosterone production (in males and females) during puberty. Blockage of hair follicles canresult from accumulating keratin and sebum, resulting in plug formation called microcomedone, which can enlarge just beneath the surface of the skin in the pore itself. It may become visible as a closed comedone (whitehead), a firm white papule. Further enlargement leads to an open comedone (blackhead). The comedones are not themselves inflammatory. Proprionibacterium acnes can induce inflammation, leding to an inflammed, red papule. HP:0005596 human_phenotype owl:Class GO:0009755 biolink:NamedThing hormone-mediated signaling pathway A series of molecular signals mediated by the detection of a hormone. tmpxe7fu0cj_hp_relaxed.owl hormone mediated signalling biological_process owl:Class GO:1902474 biolink:NamedThing positive regulation of protein localization to synapse Any process that activates or increases the frequency, rate or extent of protein localization to synapse. tmpxe7fu0cj_hp_relaxed.owl positive regulation of protein localisation to synapse|upregulation of protein localisation to synapse|upregulation of protein localization to synapse|up-regulation of protein localization to synapse|up regulation of protein localisation to synapse|activation of protein localization to synapse|up regulation of protein localization to synapse|activation of protein localisation to synapse|up-regulation of protein localisation to synapse kmv 2013-10-25T15:09:18Z biological_process owl:Class GO:1905772 biolink:NamedThing positive regulation of mesodermal cell differentiation Any process that activates or increases the frequency, rate or extent of mesodermal cell differentiation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of mesodermal cell differentiation|activation of mesodermal cell differentiation|positive regulation of mesoderm cell differentiation|upregulation of mesoderm cell differentiation|activation of mesoderm cell differentiation|up-regulation of mesoderm cell differentiation|upregulation of mesodermal cell differentiation|up regulation of mesodermal cell differentiation|up regulation of mesoderm cell differentiation rph 2016-12-21T12:44:32Z biological_process owl:Class UBERON:0002381 biolink:NamedThing pectoralis major The pectoralis major is a thick, fan-shaped muscle, situated at the upper front of the chest wall. It makes up the bulk of the chest muscles in the male and lies under the breast in the female. Underneath the pectoralis major is the pectoralis minor, a thin, triangular muscle. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl pectoralis major muscle structure|musculus pectoralis major|pectoralis major muscle EMAPA:18179|MA:0002354|VHOG:0000895|EHDAA:8311|UMLS:C0585574|EHDAA2:0001424|NCIT:C33284|FMA:9627 Pectoralis:major.png uberon owl:Class UBERON:0001482 biolink:NamedThing muscle of shoulder Any muscle organ that is part of a shoulder [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl shoulder muscle|shoulder muscle organ|muscle organ of shoulder EMAPA:36154|MA:0000633|FMA:33531 uberon owl:Class HP:0020113 biolink:NamedThing Decreased proportion of CD4+CD25+ regulatory T cells An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. tmpxe7fu0cj_hp_relaxed.owl Reduced proportion of CD4+CD25+ regulatory T cells|Decreased proportion of CD4+CD25+ Treg cells 2019-04-08 20:51:32+00:00 robinp owl:Class HP:0020111 biolink:NamedThing Abnormal CD4+CD25+ regulatory T cell proportion A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal CD4+CD25+ Treg cell proportion 2019-04-08 20:48:36+00:00 Identification of Treg cells remains problematic, because accumulating evidence suggests that all the presently-used Treg markers (CD25, CTLA-4, GITR, LAG-3, CD127 and Foxp3) represent general T-cell activation markers, rather than being truly Treg-specific. robinp owl:Class UBERON:0005412 biolink:NamedThing optic fissure Groove that is in the developing ventral optic cup and through which blood vessels pass to the enclosed mesenchyme[ZFA]. a ventral fissure in the developing optic cup through which blood vessels pass to the enclosed mesenchyme[Free online medical dictionary]. tmpxe7fu0cj_hp_relaxed.owl ventral choroidal fissure|optic fissures|optic stalk fissure|choroid fissure - optic fissure|choroid fissure ZFA:0001284|TAO:0001284|XAO:0000474|EHDAA2:0001319|AAO:0011026|EMAPA:17166|VHOG:0000655|RETIRED_EHDAA2:0000249|EHDAA:4759|MA:0001305 Develeopment notes: As the eye starts to develop, a gap opens on the underside of each eye bud. This gap provides a way for the developing eye to be nourished. This gap, called the optic fissure, has to close before the eye is fully developed. Coloboma is the incomplete closer of the optic fissure http://upload.wikimedia.org/wikipedia/commons/9/98/Gray865.png uberon owl:Class A break in the continuity of the optic cup where the two sides of the cup meet.[AAO] The folded arrangement of the vertebrate retina and RPE [retinal pigment epithelial] provides an evolutionary explanation for the occurrence of the choroid fissure, as proposed more than a century ago. Early in evolution, before the optic cup invaginated, the axons from retinal ganglion cells would simply have run over the surface of the structure. Hence, one can view the optic nerve as having acted rather like a rope in linking the retina to higher centres: the developing eye cup has simply wrapped around this 'rope', and the developing axons have thereby not needed to penetrate the retina.[well established][VHOG] UBERON:0006846 biolink:NamedThing surface groove A furrow or an incomplete tube. tmpxe7fu0cj_hp_relaxed.owl groove AEO:0000161|EHDAA2_RETIRED:0003161 uberon owl:Class UBERON:0011978 biolink:NamedThing epiphysis of middle phalanx of manus An epiphysis that is part of a middle phalanx of manus. tmpxe7fu0cj_hp_relaxed.owl epiphysis of middle phalanx of finger uberon owl:Class HP:0031529 biolink:NamedThing Focal subretinal deposits Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 00:49:30+00:00 peter owl:Class GO:0003343 biolink:NamedThing septum transversum development The progression of the septum transversum from its initial formation to the mature structure. The septum transversum is a portion of the trunk mesenchyme. tmpxe7fu0cj_hp_relaxed.owl dph 2009-12-01T10:40:17Z biological_process owl:Class HP:0010365 biolink:NamedThing Symphalangism affecting the phalanges of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Fused bones of 3rd toe UMLS:C4023880 doelkens 2009-07-16T11:51:17Z human_phenotype owl:Class CL:0000765 biolink:NamedThing erythroblast A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers. tmpxe7fu0cj_hp_relaxed.owl normoblast FMA:83504|CALOHA:TS-0289|BTO:0001571 cell owl:Class HP:0010323 biolink:NamedThing Abnormality of the epiphyses of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the 2nd toe bone UMLS:C4023904 doelkens 2009-07-16T11:40:18Z human_phenotype owl:Class HP:0010319 biolink:NamedThing Abnormality of the 2nd toe An anomaly of the second toe. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023908 doelkens 2009-07-16T11:37:12Z human_phenotype owl:Class HP:0012232 biolink:NamedThing Shortened QT interval Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:77867006|UMLS:C0151879 peter 2013-03-31T09:34:21Z human_phenotype owl:Class HP:0031547 biolink:NamedThing Abnormal QT interval Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 22:39:38+00:00 peter owl:Class HP:0100405 biolink:NamedThing Duplication of the proximal phalanx of the 4th toe Partial or complete duplication of the proximal phalanx of fourth toe. tmpxe7fu0cj_hp_relaxed.owl Duplication of the innermost 4th toe bone|Duplication of the proximal phalanx of the fourth toe|Partial/complete duplication of the proximal phalanx of the 4th toe UMLS:C4020992 human_phenotype owl:Class HP:0010211 biolink:NamedThing Duplication of proximal phalanx of toe Partial/complete duplication of a proximal phalanx of toe. tmpxe7fu0cj_hp_relaxed.owl Duplication of innermost toe bones|Partial/complete duplication of the proximal phalanges of the toes UMLS:C4021312 doelkens 2009-05-29T01:54:18Z owl:Class HP:0010214 biolink:NamedThing Contracture of the interphalangeal joint of the hallux The interphalangeal joint of the big toe cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023967 doelkens 2009-06-02T01:45:34Z human_phenotype owl:Class CHEBI:76579 biolink:NamedThing triradylglycerol A glycerol compound having one of three possible substituent groups - either acyl, alkyl, or alk-1-enyl - at each of the three possible positions sn-1, sn-2 or sn-3. has functional parent glycerol (CHEBI:17754), children: triglyceride (CHEBI:17855). Parent: is_a glycerolipid (CHEBI:35741) tmpxe7fu0cj_hp_relaxed.owl triradylglycerols LIPID_MAPS_class:LMGL0301 chebi_ontology owl:Class CHEBI:35741 biolink:NamedThing glycerolipid Any member of the group of lipids containing a common glycerol backbone to which at least one fatty acid-derived group is attached. tmpxe7fu0cj_hp_relaxed.owl glycerolipids PMID:18606873 chebi_ontology owl:Class UBERON:0009127 biolink:NamedThing epibranchial ganglion Cranial ganglion which develops from an epibranchial placode. tmpxe7fu0cj_hp_relaxed.owl epibranchial ganglia ZFA:0001555|TAO:0001555 Epibranchial ganglia orchestrate the development of the cranial neurogenic crest uberon owl:Class HP:0009821 biolink:NamedThing Forearm undergrowth Forearm shortening because of underdevelopment of one or more bones of the forearm. tmpxe7fu0cj_hp_relaxed.owl Forearm undergrowth|Hypoplasia involving forearm bones|Short forearms|Shortened forearm|Short forearm bones UMLS:C1855299 doelkens 2009-02-23T05:11:42Z HP:0003024|HP:0003968|HP:0006405 human_phenotype owl:Class HP:0009824 biolink:NamedThing Upper limb undergrowth Arm shortening because of underdevelopment of one or more bones of the upper extremity. tmpxe7fu0cj_hp_relaxed.owl Shortening of the arms|Hypoplasia involving bones of the upper limbs|Upper limb undergrowth|Short arms UMLS:C1837406 doelkens 2009-02-23T05:13:20Z HP:0006364|HP:0003056 human_phenotype owl:Class UBERON:0003302 biolink:NamedThing roof plate of metencephalon A roof plate that is part of a metencephalon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl metencephalon roof plate|roofplate of metencephalon|roofplate of epencephalon-2|roofplate medulla metencephalon|roof plate metencephalon|metencephalon roofplate|roof plate of epencephalon-2|epencephalon-2 roofplate|epencephalon-2 roof plate EMAPA:16483|EHDAA2:0001160|VHOG:0000770|EMAPA:16487|EHDAA:5524 uberon owl:Class Roof plate that is part of the metencephalon. [Bgee_curator][VHOG] HP:0004598 biolink:NamedThing Supernumerary vertebral ossification centers Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine. tmpxe7fu0cj_hp_relaxed.owl Supernumerary vertebral ossification centres UMLS:C4025309 human_phenotype owl:Class HP:0410296 biolink:NamedThing Complete or near-complete absence of specific antibody response to hepatitis B vaccine The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 22:02:42+00:00 owl:Class CHEBI:59740 biolink:NamedThing nucleophilic reagent A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons. tmpxe7fu0cj_hp_relaxed.owl nucleophile|nucleophilic reagents|nucleophiles chebi_ontology owl:Class CHEBI:39144 biolink:NamedThing Lewis base A molecular entity able to provide a pair of electrons and thus capable of forming a covalent bond with an electron-pair acceptor (Lewis acid), thereby producing a Lewis adduct. tmpxe7fu0cj_hp_relaxed.owl Lewis base|donneur d'une paire d'electrons|electron donor|Lewis-Base|base de Lewis chebi_ontology owl:Class UBERON:0014391 biolink:NamedThing palmar/plantar sweat gland A sweat gland that is part of the skin of the palmar part of the manus or plantar part of the pes. tmpxe7fu0cj_hp_relaxed.owl sweat gland of palmar/plant part of autopod|palm/sole sweat gland|palm sweat gland|sweat gland of palmar part of manus|palmar/plantar eccrine sweat gland|palmar eccrine sweat gland uberon owl:Class in mice these are the only sweat glands present UBERON:0000423 biolink:NamedThing eccrine sweat gland A merocrine, unbranched, unbranched, coiled, tubular gland sweat gland. In humans, distributed over almost all of the body surface, and promote cooling by evaporation of their secretion. tmpxe7fu0cj_hp_relaxed.owl merocrine sweat gland|glandula sudorifera eccrina|eccrine gland|glandula sudorifera merocrina MESH:D004439|UMLS:C0013492|FMA:59154|BTO:0002323|NCIT:C32490|GAID:945|MA:0003039 uberon owl:Class in mice, found only on footpads; in humans, entire body including soles and palms HP:0032886 biolink:NamedThing Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:2000836 biolink:NamedThing positive regulation of androgen secretion Any process that activates or increases the frequency, rate or extent of androgen secretion. tmpxe7fu0cj_hp_relaxed.owl bf 2011-07-26T08:39:51Z biological_process owl:Class UBERON:0003636 biolink:NamedThing manual digit 2 phalanx A phalanx that is part of a hand digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl index finger phalanx|2 nd digit of hand digit long bone|long bone of digit of hand digit 2|2 nd finger phalanx|2 nd digit of hand long bone of digit|digit long bone of 2 nd finger|2 nd finger digit long bone|phalanx of second finger|second finger digit long bone|phalanx of index finger|hand digit 2 digit long bone|phalanx of 2 nd digit of hand|digit long bone of hand digit 2|digit long bone of 2 nd digit of hand|2 nd finger long bone of digit|hand digit 2 phalanx|long bone of digit of second finger|phalanx of hand digit 2|second finger long bone of digit|hand digit 2 long bone of digit|2 nd digit of hand phalanx|phalanx of 2 nd finger|second finger phalanx|phalanx of manual digit 2|digit long bone of second finger|long bone of digit of 2 nd digit of hand|long bone of digit of 2 nd finger|manual digit II phalanx|fore limb digit 2 phalanx MA:0001390|NCIT:C52776|UMLS:C1708312|FMA:35480|EMAPA:19115 uberon owl:Class GO:1904099 biolink:NamedThing negative regulation of protein O-linked glycosylation Any process that stops, prevents or reduces the frequency, rate or extent of protein O-linked glycosylation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of protein amino acid O-linked glycosylation|down-regulation of protein O-linked glycosylation|downregulation of protein O-linked glycosylation|inhibition of protein amino acid O-linked glycosylation|down regulation of protein amino acid O-linked glycosylation|inhibition of protein O-linked glycosylation|down-regulation of protein amino acid O-linked glycosylation|downregulation of protein amino acid O-linked glycosylation|down regulation of protein O-linked glycosylation krc 2015-03-27T16:10:04Z biological_process owl:Class GO:0043616 biolink:NamedThing keratinocyte proliferation The multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. Keratinocytes are epidermal cells which synthesize keratin and undergo a characteristic change as they move upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0410360 biolink:NamedThing Increased core 1 O-glycan level An abnormal increase in the concentration of core 1 O-glycans on glycoproteins. tmpxe7fu0cj_hp_relaxed.owl Increased T-antigen concentration owl:Class HP:0410359 biolink:NamedThing Abnormal core 1 O-glycan level An abnormal in the concentration of core 1 O-glycans on glycoproteins. tmpxe7fu0cj_hp_relaxed.owl Abnormal concentration of T-antigen owl:Class CL:0002308 biolink:NamedThing epithelial cell of skin gland An epithelial cell of a skin gland. tmpxe7fu0cj_hp_relaxed.owl epithelial cell of gland of skin FMA:70657 tmeehan 2010-09-14T12:00:07Z cell owl:Class GO:1903793 biolink:NamedThing positive regulation of anion transport Any process that activates or increases the frequency, rate or extent of anion transport. tmpxe7fu0cj_hp_relaxed.owl up-regulation of anion transport|up regulation of anion transport|activation of anion transport|upregulation of anion transport sl 2015-01-12T21:50:30Z biological_process owl:Class GO:0044070 biolink:NamedThing regulation of anion transport Any process that modulates the frequency, rate or extent of the directed movement of anions, atoms or small molecules with a net negative charge into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0009970 biolink:NamedThing epithelium of pancreatic duct An epithelium that is part of a pancreatic duct. tmpxe7fu0cj_hp_relaxed.owl pancreatic ductal epithelium|pancreatic duct epithelium FMA:67681|EFO:0002556 in EHDAA2, the embryonic pancreatic ducts (dorsal, ventral) are classified as eithelial sacs, which would render them subclasses of this uberon owl:Class CHEBI:16313 biolink:NamedThing D-proline The D-enantiomer of proline. tmpxe7fu0cj_hp_relaxed.owl (R)-pyrrolidine-2-carboxylic acid|D-PROLINE|(2R)-pyrrolidine-2-carboxylic acid|D-Prolin|DPR|D-proline|D-Proline|(R)-2-Carboxypyrrolidine 0 C5H9NO2 InChI=1S/C5H9NO2/c7-5(8)4-2-1-3-6-4/h4,6H,1-3H2,(H,7,8)/t4-/m1/s1 ONIBWKKTOPOVIA-SCSAIBSYSA-N 115.13050 115.06333 OC(=O)[C@H]1CCCN1 PMID:21563681|PMID:22475019|MetaCyc:D-PROLINE|PMID:21374575|KEGG:C00763|DrugBank:DB02853|Wikipedia:D-proline|CAS:344-25-2|PMID:20959625|PMID:22479580|HMDB:HMDB0003411|Reaxys:80811|Beilstein:80811|PMID:20023020|PMID:19023642|PDBeChem:DPR|Gmelin:833984 CHEBI:21070|CHEBI:45156|CHEBI:42129|CHEBI:4226|CHEBI:13008|CHEBI:42012|CHEBI:42213 chebi_ontology owl:Class CHEBI:16733 biolink:NamedThing D-alpha-amino acid tmpxe7fu0cj_hp_relaxed.owl D-alpha-amino acid|D-alpha-amino acids|D-Amino acid 0 C2H4NO2R 74.05870 74.02420 N[C@H]([*])C(O)=O KEGG:C00405 CHEBI:20906|CHEBI:12909|CHEBI:4097|CHEBI:13625 chebi_ontology owl:Class HP:0011087 biolink:NamedThing Talon cusp Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown). tmpxe7fu0cj_hp_relaxed.owl Extra cusp on inside of front tooth|Dens evaginatus|Talon cusps SNOMEDCT_US:234955005|UMLS:C0399357|UMLS:C0266034|UMLS:C4280335|SNOMEDCT_US:63691004 peter 2011-03-11T02:00:28Z owl:Class UBERON:0004101 biolink:NamedThing nasolabial region tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class CHEBI:33655 biolink:NamedThing aromatic compound A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character. tmpxe7fu0cj_hp_relaxed.owl aromatics|aromatic compounds|aromatic molecular entity|aromatische Verbindungen chebi_ontology owl:Class HP:0009473 biolink:NamedThing Joint contracture of the hand Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. tmpxe7fu0cj_hp_relaxed.owl Contractures involving the hands|Contractures of the hands MEDDRA:10010821|UMLS:C0158113|SNOMEDCT_US:86414002 doelkens 2009-01-15T09:59:59Z HP:0006173|HP:0006096|HP:0010563|HP:0001237|HP:0004094|HP:0009409|HP:0006215|HP:0006255|HP:0005814|HP:0001160|HP:0006238|HP:0009472 human_phenotype owl:Class HP:0004021 biolink:NamedThing Lytic defects of radial metaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025439 human_phenotype owl:Class HP:0003851 biolink:NamedThing Lytic defects in metaphyses of the upper limbs tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025554 human_phenotype owl:Class CL:0000362 biolink:NamedThing epidermal cell An epithelial cell of the integument (the outer layer of an organism). tmpxe7fu0cj_hp_relaxed.owl epithelial cell of skin|cell of epidermis BTO:0001470|CALOHA:TS-0283|FMA:62411 CL:1000396 cell owl:Class HP:0011884 biolink:NamedThing Abnormal umbilical stump bleeding Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023145 peter 2012-06-02T10:25:45Z human_phenotype owl:Class UBERON:0000991 biolink:NamedThing gonad Reproductive organ that produces and releases eggs (ovary) or sperm (testis). tmpxe7fu0cj_hp_relaxed.owl gonads|gonada BTO:0000534|ZFA:0000413|HAO:0000379|EMAPA:17383|UMLS:C0018067|XAO:0003146|GAID:368|MESH:D006066|FBbt:00004858|VHOG:0000397|TAO:0000413|SCTID:304623008|NCIT:C12725|MA:0002420|FMA:18250|BILA:0000123|BSA:0000079|WBbt:0005175|OpenCyc:Mx4rwQvdiZwpEbGdrcN5Y29ycA|Wikipedia:Gonad|AAO:0000213 uberon owl:Class The part of the reproductive system that produces and releases eggs (ovary) or sperm (testis).[TAO]|Anatomical structure which produces gametes as well as certain sex hormones controlled by the pituitary gonadotropins.[AAO] Examination of different vertebrate species shows that the adult gonad is remarkably similar in its morphology across different phylogenetic classes. Surprisingly, however, the cellular and molecular programs employed to create similar organs are not evolutionarily conserved.[uncertain][VHOG] gonadal FMA xref is a 'general anatomical term' UBERON:0004816 biolink:NamedThing larynx epithelium An epithelium that is part of a larynx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl laryngeal epithelium|epithelium of larynx|larynx epithelial tissue|epithelial tissue of larynx NCIT:C49247|EHDAA2:0004065|EMAPA:35472|MA:0001765|UMLS:C0751258 uberon owl:Class composed of squamous epithelium in the upper larynx and ciliated columnar epithelium in the lower larynx [ISBN:0-397-51047-0] HP:0010906 biolink:NamedThing Hyperhistidinemia An increased concentration of histidine in the blood. tmpxe7fu0cj_hp_relaxed.owl Histidinemia|High blood histidine level SNOMEDCT_US:410058007|MSH:C538320|UMLS:C0220992|SNOMEDCT_US:124628005 Blood histidine levels over 500 micromole per liter. Normal blood histidine levels are around 80-90 micromole per liter. peter 2010-12-08T07:27:47Z human_phenotype owl:Class HP:0010904 biolink:NamedThing Abnormal circulating histidine concentration An abnormality of a histidine metabolic process. tmpxe7fu0cj_hp_relaxed.owl Abnormality of histidine metabolism UMLS:C4023662 peter 2010-12-08T07:13:56Z human_phenotype owl:Class GO:0002027 biolink:NamedThing regulation of heart rate Any process that modulates the frequency or rate of heart contraction. tmpxe7fu0cj_hp_relaxed.owl regulation of heart contraction rate|regulation of rate of heart contraction|cardiac chronotropy biological_process owl:Class GO:0072376 biolink:NamedThing protein activation cascade A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events. tmpxe7fu0cj_hp_relaxed.owl protein activitory cascade|protein activation pathway mah 2010-11-22T02:54:18Z biological_process owl:Class GO:2000267 biolink:NamedThing negative regulation of blood coagulation, intrinsic pathway Any process that stops, prevents or reduces the frequency, rate or extent of blood coagulation, intrinsic pathway. tmpxe7fu0cj_hp_relaxed.owl mah 2010-11-23T11:45:46Z biological_process owl:Class HP:0008697 biolink:NamedThing Hypoplasia of the fallopian tube Developmental hypoplasia of the fallopian tube. tmpxe7fu0cj_hp_relaxed.owl Rudimentary fallopian tubes|Underdeveloped fallopian tube UMLS:C1968706 human_phenotype owl:Class HP:0008655 biolink:NamedThing Aplasia/Hypoplasia of the fallopian tube Aplasia or developmental hypoplasia of the fallopian tube. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped fallopian tube|Absent/small fallopian tube|Absent or rudimentary fallopian tubes UMLS:C4020791|UMLS:C4024646 human_phenotype owl:Class UBERON:0009206 biolink:NamedThing lateral nasal process surface ectoderm An ectoderm that is part of a lateral nasal prominence. tmpxe7fu0cj_hp_relaxed.owl ectoderm of latero-nasal process EMAPA:16806|EHDAA2:0000918 uberon owl:Class HP:0005798 biolink:NamedThing Posterior radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1867398|MSH:C566728 human_phenotype owl:Class UBERON:0005340 biolink:NamedThing dorsal telencephalic commissure A fiber tracts that connect the dorsal region of the two cerebral hemispheres and span the longitudinal fissure, including the corpus callosum and hippocampal commissure[MP]. tmpxe7fu0cj_hp_relaxed.owl dorsal commissure EMAPA:37844|NLX:147892 uberon owl:Class HP:0033920 biolink:NamedThing Renal arteriole intima/media storage material accumulation Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney. tmpxe7fu0cj_hp_relaxed.owl Accumulated storage material within arteriolar intima/media 2021-06-24 00:55:23+00:00 peter owl:Class HP:0010748 biolink:NamedThing Ectopic lacrimal punctum Positioning of a lacrimal punctum other than at the medial margins of the eyelid. tmpxe7fu0cj_hp_relaxed.owl Abnormal position of the lacrimal punctum UMLS:C4021230 The openings of the tear ducts are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. Ectopic positions can include the upper eyelid, nasal bridge, or inferior to medial aspect of the lower lid. sdoelken 2010-04-23T09:35:56Z human_phenotype owl:Class UBERON:0005269 biolink:NamedThing renal cortex vein Artery that receives blood from the renal cortex[MP, modified]. tmpxe7fu0cj_hp_relaxed.owl renal cortex venous system|kidney cortex vein EMAPA:28152|MA:0002592 uberon owl:Class HP:0011519 biolink:NamedThing Anomalous trichromacy Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023316 Because the spectral sensitivities of individuals with anomalous trichromacy are shifted compared to normal, they mix the primary colors in different proportions. peter 2012-04-06T06:57:10Z human_phenotype owl:Class HP:0007641 biolink:NamedThing Dyschromatopsia A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. tmpxe7fu0cj_hp_relaxed.owl Color blindness|Colour blindness UMLS:C0858618 owl:Class UBERON:0000117 biolink:NamedThing respiratory tube A tube in the respiratory system. Examples: bronchus, bronchiole, trachea. tmpxe7fu0cj_hp_relaxed.owl tracheobronchial tree segment|segment of tracheobronchial tree|respiratory conducting tube|airway EMAPA:37946|FMA:12224 uberon owl:Class in GO lung development is part of respiratory tube development. This can lead to inconsistencies with other ontologies, e.g. VT. The GO structure may be better represented by a tree of tubes (see the FMA class) HP:0030180 biolink:NamedThing Oppenheim reflex Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe). tmpxe7fu0cj_hp_relaxed.owl Oppenheim sign UMLS:C1532837|SNOMEDCT_US:414949005 This reflex can indicate affection of the corticospinal (pyramidal) tracts. owl:Class GO:2000857 biolink:NamedThing positive regulation of mineralocorticoid secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:2000855 biolink:NamedThing regulation of mineralocorticoid secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0013162 biolink:NamedThing right lateral ventricle A telencephalic ventricle that is in_the_right_side_of a telencephalon. tmpxe7fu0cj_hp_relaxed.owl right telencephalic ventricle FMA:78449 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern GO:0002676 biolink:NamedThing regulation of chronic inflammatory response Any process that modulates the frequency, rate, or extent of a chronic inflammatory response. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0008410 biolink:NamedThing Subungual hyperkeratotic fragments tmpxe7fu0cj_hp_relaxed.owl UMLS:C1852311 human_phenotype owl:Class GO:0001842 biolink:NamedThing neural fold formation The process in which the neural fold is formed. The edges of the neural plate thicken and move up to form a U-shaped structure called the neural groove. tmpxe7fu0cj_hp_relaxed.owl neural groove formation biological_process owl:Class GO:0002068 biolink:NamedThing glandular epithelial cell development The process whose specific outcome is the progression of a glandular epithelial cell over time, from its formation to the mature structure. A glandular epithelial cell is a columnar/cuboidal epithelial cell is a cell found in a two dimensional sheet with a free surface exposed to the lumen of a gland. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0004336 biolink:NamedThing Myelin outfoldings The presence of excessive redundant myelin in the peripheral nerve sheath. tmpxe7fu0cj_hp_relaxed.owl Irregular myelin foldings|Excessive focal folding of myelin sheaths UMLS:C1843168 This finding can be demonstrated by nerve biopsy (e.g., sural nerve biopsy). peter 2008-03-04T06:41:00Z HP:0003433|HP:0007290|HP:0006898 human_phenotype owl:Class HP:0030173 biolink:NamedThing Peripheral hypermyelination Increased amount of peripheral myelination. tmpxe7fu0cj_hp_relaxed.owl Increased peripheral myelination UMLS:C4021049 owl:Class HP:0100308 biolink:NamedThing Cerebral cortical hemiatrophy Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022153 doelkens 2010-08-10T02:52:37Z human_phenotype owl:Class GO:0140103 biolink:NamedThing catalytic activity, acting on a glycoprotein Catalysis of a biochemical reaction at physiological temperatures in which one of the substrates is a glycoprotein. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/14225 pg 2017-09-15T19:27:54Z molecular_function owl:Class UBERON:0002094 biolink:NamedThing interventricular septum Cardiac septum which separates the right ventricle from the left ventricle.[FMA]. tmpxe7fu0cj_hp_relaxed.owl ventricular septum|interventriculare cordis|ventricle septum|heart interventricular septum|s. interventriculare cordis|septum membranaceum|heart ventricular septum|intraventricular septum|septum inferius|interventricular septum of heart EFO:0001956|FMA:7133|NCIT:C32874|EHDAA:2603|EMAPA:17333|MA:0000085|UMLS:C0225870|VHOG:0000386|OpenCyc:Mx4rwA7lp5wpEbGdrcN5Y29ycA|galen:InterventricularSeptum|BTO:0002483|Wikipedia:Interventricular_septum|SCTID:362019005 http://upload.wikimedia.org/wikipedia/commons/9/96/Gray498.png uberon owl:Class The partition separating the right and left ventricles of the heart. [TFD][VHOG] The two most progressive vertebrate classes, the birds and mammals, have completed the ventricular septum and at long last have completely separated the two blood streams along the length of the major heart chambers. This development has obviously been brought about independently in the two cases, since mammals and birds have evolved independently from primitive reptiles.[well established][VHOG] involves the recruitment of myocardial cells as well as of non- muscular mesenchymal cells (Kaufman and Bard, 1999) UBERON:0005690 biolink:NamedThing 3rd arch mesenchyme Mesenchyme that is part of a pharyngeal arch 3. tmpxe7fu0cj_hp_relaxed.owl 3rd pharyngeal arch mesenchyme|3rd branchial arch mesenchyme|pharyngeal arch 3 mesenchyme EHDAA:1094|VHOG:0001083|EMAPA:16402|FMA:295700|EHDAA2:0000081 uberon owl:Class In all vertebrates, the pharyngeal apparatus develops from a series of bulges found on the lateral surface of the head, the pharyngeal arches, which consist of a number of different embryonic cell types. Each arch has an external covering of ectoderm and inner covering of endoderm, and between these a mesenchymal filling of neural crest with a central core of mesoderm.[well established][VHOG] UBERON:0005425 biolink:NamedThing presumptive neural retina Portion of tissue that is the inner layer of the optic cup and will become the neural retina. tmpxe7fu0cj_hp_relaxed.owl future retinal neural layer|presumptive retina|inner layer optic cup|future NR|future neural layer|future neural retina|future neural epithelium|presumptive retinas|optic cup inner layer EHDAA2:0001304|EMAPA:16675|TAO:0001071|ZFA:0001071|VHOG:0000490 uberon owl:Class (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The outer layer of the optic cup becomes the pigment layer of the retina, whereas the inner layer differentiates into the photoreceptive cells and neuronal layers of the retina.[well established][VHOG] UBERON:0002435 biolink:NamedThing striatum A region of the forebrain consisting of the caudate nucleus, putamen and fundus striati.[GO]. tmpxe7fu0cj_hp_relaxed.owl corpus striatum (Zilles)|striatum|neuraxis striatum|striated nucleus|corpus striatum|caudate putamen|dorsal striatum|neostriatum|striate nucleus|striatum of neuraxis EMAPA:17549|BAMS:STR|FMA:77618|BAMS:Str|MA:0000891|BM:N|UMLS:C0162512|DHBA:10333|MESH:A08.186.211.730.885.105.487.550|BAMS:Striatum|ncithesaurus:Striatum|NCIT:C111122|MBA:477|DMBA:15851|BIRNLEX:1672|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=225|EFO:0000109|FMA:83683|PBA:10080|HBA:4277|BTO:0000418 http://upload.wikimedia.org/wikipedia/commons/3/33/BrainCaudatePutamen.svg uberon owl:Class striatal FMA divides 'striatum of neuraxis' into 4, neostriatum is seperate class. In NIF these are synonyms. TODO - check striatum vs corpus striatum see Wikipedia:Striatum#History. Check caudoputamen UBERON:0011300 biolink:NamedThing gray matter of telencephalon A portion of gray matter that is part of a telencephalon. tmpxe7fu0cj_hp_relaxed.owl predominantly gray regional part of telencephalon BIRNLEX:1067|FMA:83911 UBERON:0024186 uberon owl:Class UBERON:0005004 biolink:NamedThing mucosa of right ureter A mucosa that is part of a right ureter [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl right ureter mucous membrane|organ mucosa of right ureter|right ureter mucosa|right ureter mucosa of organ|mucous membrane of right ureter|right ureter organ mucosa|right ureteral mucosa|mucosa of organ of right ureter FMA:17806 uberon owl:Class HP:0000131 biolink:NamedThing Uterine leiomyoma The presence of a leiomyoma of the uterus. tmpxe7fu0cj_hp_relaxed.owl Uterine fibroid|Benign uterine leiomyomas SNOMEDCT_US:95315005|UMLS:C0042133|MSH:D007889|SNOMEDCT_US:44598004|NCIT:C3157|SNOMEDCT_US:146801000119103 Leiomyoma is a benign neoplasm derived from smooth muscle cells. HP:0008642 human_phenotype owl:Class HP:0010784 biolink:NamedThing Uterine neoplasm A tumor (abnormal growth of tissue) of the uterus. tmpxe7fu0cj_hp_relaxed.owl Uterine tumour|Uterine tumor|Uterine cancer|Uterine neoplasia MSH:D014594|NCIT:C3262|UMLS:C0042138|SNOMEDCT_US:126908007 sdoelken 2010-05-04T09:35:15Z human_phenotype owl:Class UBERON:0035831 biolink:NamedThing costal diaphragm The domain of the diaphragm that is a thin domed sheet of muscle composed of a radial array of myofibers extending laterally from the ribs and medially to a central tendon. tmpxe7fu0cj_hp_relaxed.owl pars costalis diaphragmatis|costal part of diaphragm FMA:58277 uberon owl:Class HP:0011561 biolink:NamedThing Overriding atrioventricular valve An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023298 Straddling and overriding atrioventricular valves usually occur in combination. peter 2012-04-07T12:09:28Z human_phenotype owl:Class HP:0025163 biolink:NamedThing Abnormality of optic chiasm morphology A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves. tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 13:12:19+00:00 HPO:probinson owl:Class HP:0000587 biolink:NamedThing Abnormality of the optic nerve Abnormality of the optic nerve. tmpxe7fu0cj_hp_relaxed.owl optic nerve abnormalities|Optic nerve issue UMLS:C0029131 The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. human_phenotype owl:Class HP:0040135 biolink:NamedThing Abnormal transferrin saturation Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022419 HPO:skoehler owl:Class HP:0011031 biolink:NamedThing Abnormality of iron homeostasis An abnormality of the homeostasis (concentration) of iron cation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023583 peter 2011-03-04T08:01:07Z human_phenotype owl:Class HP:0040021 biolink:NamedThing Radial deviation of the thumb tmpxe7fu0cj_hp_relaxed.owl UMLS:C2168996 HPO:skoehler owl:Class HP:0040326 biolink:NamedThing Hypoplasia of the olfactory bulb Underdevelopment of the olfactory bulb. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of olfactory bulb|Hypoplastic olfactory bulb owl:Class PATO:0002324 biolink:NamedThing offset quality The temporal relation between the end of the process with respect to a reference process. tmpxe7fu0cj_hp_relaxed.owl completeness|extent 2011-11-23T11:46:00Z quality owl:Class UBERON:0008886 biolink:NamedThing pulmonary vascular system The part of the cardiovascular system consisting of all pulmonary arteries and all pulmonary veins. tmpxe7fu0cj_hp_relaxed.owl pulmonary system|pulmonary circulatory system FMA:45621|Wikipedia:Pulmonary_circulation uberon owl:Class Subdivision of cardiovascular system which has as its parts the pulmonary arterial and venous tree organs.[FMA] UBERON:0012172 biolink:NamedThing stomach primordium A primordium that has the potential to develop into a stomach. tmpxe7fu0cj_hp_relaxed.owl stomach endoderm UMLS:C1514976|NCIT:C34305|EFO:0002580 uberon owl:Class CHEBI:24835 biolink:NamedThing inorganic molecular entity A molecular entity that contains no carbon. tmpxe7fu0cj_hp_relaxed.owl inorganic molecular entities|anorganische Verbindungen|inorganic compounds|inorganics|inorganic entity chebi_ontology owl:Class UBERON:0005665 biolink:NamedThing 3rd arch endoderm An endoderm that is part of a pharyngeal arch 3. tmpxe7fu0cj_hp_relaxed.owl 3rd pharyngeal arch endoderm EMAPA:16587|EMAPA:16401|EMAPA:16585|RETIRED_EHDAA2:0000080|EHDAA2:0000075|VHOG:0001081 uberon owl:Class In all vertebrates, the pharyngeal apparatus develops from a series of bulges found on the lateral surface of the head, the pharyngeal arches, which consist of a number of different embryonic cell types. Each arch has an external covering of ectoderm and inner covering of endoderm, and between these a mesenchymal filling of neural crest with a central core of mesoderm.[well established][VHOG] UBERON:0005259 biolink:NamedThing lower leg mesenchyme Mesenchyme that is part of a developing lower leg [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl VHOG:0000752|EHDAA2:0001032|EMAPA:17498 uberon owl:Class CL:0000393 biolink:NamedThing electrically responsive cell A cell whose function is determined by its response to an electric signal. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class GO:1901494 biolink:NamedThing regulation of cysteine metabolic process Any process that modulates the frequency, rate or extent of cysteine metabolic process. tmpxe7fu0cj_hp_relaxed.owl regulation of cysteine metabolism vw 2012-10-16T14:28:42Z biological_process owl:Class HP:0009618 biolink:NamedThing Abnormality of the proximal phalanx of the thumb An anomaly of the shape or form of the proximal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Abnormal innermost thumb bone|Abnormality of proximal thumb phalanx UMLS:C4021421 In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. doelkens 2009-01-29T04:13:47Z HP:0004076 human_phenotype owl:Class PATO:0002056 biolink:NamedThing decreased fragility A fragility which is relatively low. tmpxe7fu0cj_hp_relaxed.owl 2009-03-26T04:02:14Z quality owl:Class GO:1905940 biolink:NamedThing negative regulation of gonad development Any process that stops, prevents or reduces the frequency, rate or extent of gonad development. tmpxe7fu0cj_hp_relaxed.owl down regulation of gonadogenesis|down-regulation of gonadogenesis|down regulation of gonad development|inhibition of gonadogenesis|down-regulation of gonad development|downregulation of gonadogenesis|downregulation of gonad development|negative regulation of gonadogenesis|inhibition of gonad development hbye 2017-02-09T17:01:59Z biological_process owl:Class HP:0100385 biolink:NamedThing Aplasia of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Absent innermost bone of the 4th toe UMLS:C4022109 human_phenotype owl:Class HP:0033799 biolink:NamedThing Abnormal circulating sex hormone concentration Any deviation from the normal concentration of a sex hormone in the blood circulation tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating gonadal steroid concentration|Abnormal circulating gonadocorticoid concentration|Abnormal circulating sex steroid concentration 2021-05-09 11:33:30+00:00 Sex hormones are steroid hormones that include the androgens, estrogens, and progestogens. peter owl:Class CHEBI:16526 biolink:NamedThing carbon dioxide A one-carbon compound with formula CO2 in which the carbon is attached to each oxygen atom by a double bond. A colourless, odourless gas under normal conditions, it is produced during respiration by all animals, fungi and microorganisms that depend directly or indirectly on living or decaying plants for food. tmpxe7fu0cj_hp_relaxed.owl [CO2]|E290|CARBON DIOXIDE|CO2|dioxidocarbon|carbonic anhydride|E 290|Carbon dioxide|carbon dioxide|methanedione|R-744|E-290 0 CO2 InChI=1S/CO2/c2-1-3 CURLTUGMZLYLDI-UHFFFAOYSA-N 44.010 43.98983 O=C=O PMID:11094503|PMID:16591971|PMID:16659660|KEGG:D00004|PMID:23828359|PMID:24258718|HMDB:HMDB0001967|PMID:8818713|PMID:8869828|Beilstein:1900390|MolBase:752|PMID:10826146|PDBeChem:CO2|PMID:9611769|KEGG:C00011|PMID:19854893|PMID:17190796|PMID:9730350|PMID:15050588|PMID:17878298|PMID:14639145|Drug_Central:4256|PMID:8482095|PPDB:119|MetaCyc:CARBON-DIOXIDE|Wikipedia:Carbon_dioxide|Reaxys:1900390|PMID:11584085|UM-BBD_compID:c0131|PMID:23384758|PMID:11802652|PMID:17448243|CAS:124-38-9|PMID:16656478|Gmelin:989|PMID:19259576|PMID:19043767|PMID:17884085 CHEBI:13284|CHEBI:13285|CHEBI:13283|CHEBI:48829|CHEBI:23011|CHEBI:13282|CHEBI:3283 chebi_ontology owl:Class HP:0100509 biolink:NamedThing Abnormality of vitamin C metabolism tmpxe7fu0cj_hp_relaxed.owl Abnormality of vitamin C metabolism UMLS:C4021863 doelkens 2010-12-17T06:18:32Z human_phenotype owl:Class HP:0100508 biolink:NamedThing Abnormality of vitamin metabolism An anomaly in the metabolism of a vitamin. tmpxe7fu0cj_hp_relaxed.owl Abnormality of vitamin metabolism UMLS:C4022036 Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes. doelkens 2010-12-17T06:17:22Z human_phenotype owl:Class CHEBI:23367 biolink:NamedThing molecular entity Any constitutionally or isotopically distinct atom, molecule, ion, ion pair, radical, radical ion, complex, conformer etc., identifiable as a separately distinguishable entity. tmpxe7fu0cj_hp_relaxed.owl entidad molecular|molecular entities|molekulare Entitaet|molecular entity|entidades moleculares|entite moleculaire chebi_ontology owl:Class HP:0008346 biolink:NamedThing Increased red cell sickling tendency tmpxe7fu0cj_hp_relaxed.owl Increased sickling of erythrocytes|Increased sickling of red cells UMLS:C4024695 human_phenotype owl:Class HP:0011895 biolink:NamedThing Anemia due to reduced life span of red cells A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. tmpxe7fu0cj_hp_relaxed.owl Anaemia due to reduced life span of red cells UMLS:C4021112 peter 2012-06-03T09:26:17Z human_phenotype owl:Class HP:0005147 biolink:NamedThing Bidirectional ventricular ectopy tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969410 owl:Class UBERON:0003638 biolink:NamedThing manual digit 4 phalanx A phalanx that is part of a hand digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl 4 th finger digit long bone|fore limb digit 4 phalanx|hand digit 4 phalanx|digit long bone of 4 th finger|4 th finger long bone of digit|long bone of digit of 4 th digit of hand|digit long bone of fourth finger|phalanx of 4 th digit of hand|hand digit 4 digit long bone|digit long bone of hand digit 4|long bone of digit of 4 th finger|4 th finger phalanx|fourth finger long bone of digit|long bone of digit of fourth finger|fourth finger phalanx|phalanx of 4 th finger|digit long bone of 4 th digit of hand|hand digit 4 long bone of digit|ring finger phalanx|phalanx of ring finger|4 th digit of hand phalanx|phalanx of hand digit 4|manual digit IV phalanx|4 th digit of hand long bone of digit|fourth finger digit long bone|phalanx of fourth finger|long bone of digit of hand digit 4|4 th digit of hand digit long bone UMLS:C1708316|EMAPA:19119|MA:0001392|FMA:35486|NCIT:C52774 uberon owl:Class MPATH:322 biolink:NamedThing teratoma Generally benign germ cell derived tumors of male or female containing derivatives from all three germ layers with differentiation in the malignant form being poor. Malignant tumors are highly metatstatic. (M-9080/1). tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class MPATH:310 biolink:NamedThing germ cell tumor Neoplasms derived from germ cells. May be gonadal or extragonadal and are derived from primordial germ cells. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class UBERON:0016453 biolink:NamedThing lower secondary premolar tooth tmpxe7fu0cj_hp_relaxed.owl mandibular secondary premolar tooth|permanent lower premolar tooth|lower permanent premolar tooth FMA:55717 uberon owl:Class UBERON:0017270 biolink:NamedThing secondary premolar tooth tmpxe7fu0cj_hp_relaxed.owl secondary premolar|permanent premolar tooth|secondary bicuspid uberon owl:Class UBERON:0003478 biolink:NamedThing vein of lower lip The inferior labial vein is the vein receiving blood from the lower lip. tmpxe7fu0cj_hp_relaxed.owl vena labialis inferior|inferior labial vein|lower lip vein|venae labiales inferiores Wikipedia:Inferior_labial_vein|SCTID:422955002|EMAPA:37202|MA:0002253|FMA:52541 http://upload.wikimedia.org/wikipedia/commons/8/8c/Gray557.png uberon owl:Class HP:0033190 biolink:NamedThing Hypertrichotic hyperpigmented patch A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth. tmpxe7fu0cj_hp_relaxed.owl Cutaneous hyperpigmentation with overlying hypertrichosis 2020-10-04 12:07:25+00:00 peter owl:Class HP:0000953 biolink:NamedThing Hyperpigmentation of the skin A darkening of the skin related to an increase in melanin production and deposition. tmpxe7fu0cj_hp_relaxed.owl Patchy darkened skin|Increased skin pigmentation|Cutaneous hyperpigmentation|Skin hyperpigmentation|Melanodermia|Hyperpigmented lesion|Melanoderma SNOMEDCT_US:4830009|SNOMEDCT_US:49765009|UMLS:C0162834|MSH:D017495 HP:0007527 owl:Class UBERON:0004938 biolink:NamedThing submucosa of biliary tree A submucosa that is part of a biliary tree [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl biliary tree submucosa|biliary tract submucosa|submucosa of biliary tract FMA:18009 uberon owl:Class NBO:0002519 biolink:NamedThing adipsia "A pathological drinking behavior characterised by a lack of desire to drink." [NBO:GVG] MP:0001428 tmpxe7fu0cj_hp_relaxed.owl George Gkoutos owl:Class NBO:0000993 biolink:NamedThing decreased frequency of drinking tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0500269 biolink:NamedThing Abnormal proportion of gamma-delta T cells Abnormal proportion of gamma-delta T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal proportion of gamma-delta T-lymphocytes|Abnormal proprotion of gamma-delta T lymphocytes|Abnormal proportion of gammadelta T cells 2020-05-19 14:55:58+00:00 owl:Class HP:0031757 biolink:NamedThing Medial rectus muscle restriction Mechanical limitation of the range of movement of the medial rectus muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:30:22+00:00 In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. peter owl:Class HP:0031753 biolink:NamedThing Medial rectus muscle weakness Decreased strength of the medial rectus muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:25:38+00:00 peter owl:Class GO:0071739 biolink:NamedThing IgD immunoglobulin complex, circulating A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpxe7fu0cj_hp_relaxed.owl IgD antibody Note that an IgD immunoglobulin complex has the function of antigen binding if a suitable antigen is available. mah 2010-03-24T01:44:53Z cellular_component owl:Class GO:0071738 biolink:NamedThing IgD immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpxe7fu0cj_hp_relaxed.owl Note that an IgD immunoglobulin complex has the function of antigen binding if a suitable antigen is available. mah 2010-03-24T01:44:53Z cellular_component owl:Class HP:0008093 biolink:NamedThing Short 4th toe Underdevelopment (hypoplasia) of the fourth toe. tmpxe7fu0cj_hp_relaxed.owl Short 4th toe|Short fourth toe UMLS:C1862083 human_phenotype owl:Class HP:5000004 biolink:NamedThing Anti-CARP VIII antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII). tmpxe7fu0cj_hp_relaxed.owl Anti-carbonic anhydrase-related protein VIII antibody|Anti CARPVIII antibody ORCID:0000-0002-3387-1836 owl:Class HP:0001647 biolink:NamedThing Bicuspid aortic valve The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). tmpxe7fu0cj_hp_relaxed.owl Aortic valve has two leaflets rather than three UMLS:C0149630|SNOMEDCT_US:72352009|MSH:C562388 A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036]. human_phenotype owl:Class UBERON:0003633 biolink:NamedThing pedal digit 3 3rd digit of the hind autopod. tmpxe7fu0cj_hp_relaxed.owl hind limb digit 3|hind digit III|pedal digit III|3rd toe|foot digit 3|digitus tertius [iii]|digitus tertius (III) pedis|digit 3 of hind-paw|hind digit 3|toe 3|third digit of foot|digitus tertius pedis|pes digit III|third toe MA:0000467|NCIT:C52841|FMA:25051|EMAPA:17466|EHDAA2:0002047|UMLS:C1708083|BTO:0002351|AAO:0010646 uberon owl:Class HP:0002787 biolink:NamedThing Tracheal calcification Calcification (abnormal deposits of calcium) in the tracheal tissues. tmpxe7fu0cj_hp_relaxed.owl Tracheal calcifications|Tracheal ectopic calcification|Calcification of the trachea SNOMEDCT_US:81089005|UMLS:C0264324 human_phenotype owl:Class UBERON:0000209 biolink:NamedThing tetrapod frontal bone The bone forming the forehead and roof of the eye orbit. tmpxe7fu0cj_hp_relaxed.owl frontal bone|os frontal|frontal|os frontale GAID:226|AAO:0000206|VHOG:0001324|MESH:D005624|UMLS:C0016732|VSAO:0000208|NCIT:C32635|MA:0001466|EMAPA:19016|FMA:52734 http://upload.wikimedia.org/wikipedia/commons/9/97/Gray136.png|Frontal:bone.png uberon owl:Class fused in humans, paired in other animals In the mouse the parietal originates from cephalic paraxial mesoderm (Jiang 2000; Morriss-Kay 2001), whereas in the chicken it is traced back to either mesodermal (Noden 1978) or neural crest (Couly 1992, 1993). UBERON:0012367 biolink:NamedThing muscle layer of intestine A muscle layer that is part of an intestine. tmpxe7fu0cj_hp_relaxed.owl smooth muscle of intestine|intestinal muscularis propria|muscularis externa of intestine FMA:15697 uberon owl:Class UBERON:0018261 biolink:NamedThing muscular coat of digestive tract A muscular coat that is part of a digestive tract. tmpxe7fu0cj_hp_relaxed.owl tunica externa of digestive tract|tunica muscularis of digestive tract|muscular layer of digestive tract|muscularis externa of digestive tract uberon owl:Class responsible for gut movement, such as peristalsis HP:0100220 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 5th toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022201 doelkens 2010-06-24T05:04:00Z owl:Class HP:0100084 biolink:NamedThing Pseudoepiphyses of the 5th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022337 doelkens 2010-06-24T10:00:02Z human_phenotype owl:Class UBERON:0003101 biolink:NamedThing male organism Gonochoristic organism that can produce male gametes. tmpxe7fu0cj_hp_relaxed.owl male|male human body BILA:0000027|FMA:67811|WBbt:0007850|AAO:0010033|TGMA:0001838|CARO:0000027|TAO:0000242|ZFA:0000242|FBbt:00007004|HAO:0000027|XAO:0003006 uberon owl:Class PR:P16872 biolink:NamedThing interleukin-7 receptor subunit alpha (mouse) An interleukin-7 receptor subunit alpha that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl IL-7 receptor subunit alpha (mouse)|mIL7R|IL-7R-alpha (mouse)|IL-7R subunit alpha (mouse)|IL-7RA (mouse)|CD127 (mouse)|Il7r UniProtKB:P16872 Category=organism-gene. protein owl:Class HP:0008251 biolink:NamedThing Congenital goiter An enlargement of the thyroid gland with congenital onset. tmpxe7fu0cj_hp_relaxed.owl Congenital goitre UMLS:C0349476|SNOMEDCT_US:276565004 human_phenotype owl:Class HP:0000853 biolink:NamedThing Goiter An enlargement of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Enlarged thyroid gland in neck|Thyroid goiter|Goitre|Thyroid goitre UMLS:C0018021|MSH:D006042|SNOMEDCT_US:3716002 human_phenotype owl:Class GO:0030278 biolink:NamedThing regulation of ossification Any process that modulates the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpxe7fu0cj_hp_relaxed.owl regulation of bone formation|regulation of bone biosynthesis biological_process owl:Class GO:0061106 biolink:NamedThing negative regulation of stomach neuroendocrine cell differentiation Any process that decreases the rate, frequency or extent of the differentiation of a neuroendocrine cell in the stomach. tmpxe7fu0cj_hp_relaxed.owl dph 2010-04-29T12:23:05Z biological_process owl:Class UBERON:0001650 biolink:NamedThing hypoglossal nerve Cranial nerve that innervates the muscles of the tongue. tmpxe7fu0cj_hp_relaxed.owl nervus hypoglossus [xii]|nervus hypoglossus|12n|nerve XII|hypoglossal XII|hypoglossal XII nerve|cranial nerve XII|hypoglossal nerve [XII]|nervi hypoglossalis|twelfth cranial nerve|hypoglossal nerve/ root|hypoglossal nerve tree|CN-XII MBA:813|BAMS:XIIn|XAO:0004215|FMA:50871|BAMS:nXII|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=704|SCTID:362471008|BTO:0003386|HBA:9343|MESH:D007002|GAID:828|OpenCyc:Mx4rv9eWA5wpEbGdrcN5Y29ycA|Wikipedia:Hypoglossal_nerve|VHOG:0000693|BAMS:12n|BIRNLEX:820|EMAPA:17269|NCIT:C12732|UMLS:C0020614|EHDAA:2859|MA:0001094|AAO:0010477|EHDAA2:0000798 http://upload.wikimedia.org/wikipedia/commons/e/ef/Gray794.png uberon owl:Class In amphibians, represents the hypoglossal nerve in amniotes. Innverates mm. geniohyoideus, genioglossus, hyoglossus, rectus cervicis|Cranial nerve that innervates muscles in the tongue. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-14, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]|Nerve which innervates the muscles associated with the tongue including mm geniohyoideus, genioglossus, hyoglossus and rectus cervicis.[AAO] Cranial nerves XI and XII evolved in the common ancestor to amniotes (non-amphibian tetrapods) thus totalling twelve pairs.[well established][VHOG] we use a broad definition of this cranial nerve that encompasses the amphibian predecessor of true amniote hypoglossal nerves NBO:0000607 biolink:NamedThing cognitive behavior "Behaviour related to cognitive processes." [NBO:JH] tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T03:51:13Z George Gkoutos behavior_ontology owl:Class HP:0025602 biolink:NamedThing Inferior rectus muscle restriction Mechanical limitation of the range of movement of the inferior rectus muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 22:24:32+00:00 In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. HPO:probinson owl:Class HP:0025601 biolink:NamedThing Inferior rectus muscle weakness Decreased strength of the inferior rectus muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 22:23:13+00:00 HPO:probinson owl:Class HP:0031264 biolink:NamedThing Abnormal Bowman capsule morphology A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule. tmpxe7fu0cj_hp_relaxed.owl Abnormal renal glomerular capsule morphology|Abnormal morphology of Bowman's capsule|Abnormal morphology of Bowman capsule 2017-08-12 18:34:59+00:00 peter owl:Class HP:0031263 biolink:NamedThing Abnormal renal corpuscle morphology Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 18:30:25+00:00 peter owl:Class GO:0006417 biolink:NamedThing regulation of translation Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. tmpxe7fu0cj_hp_relaxed.owl regulation of protein formation|regulation of protein biosynthesis|regulation of protein synthesis|regulation of protein anabolism GO:0006445 biological_process owl:Class HP:0033266 biolink:NamedThing Glomerular pseudocrescent Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 15:19:59+00:00 peter owl:Class HP:0031265 biolink:NamedThing Abnormal glomerular visceral epithelial cell morphology Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary. tmpxe7fu0cj_hp_relaxed.owl Abnormal podocyte morphology|Abnormal visceral epithelial cell morphology 2017-08-12 18:36:29+00:00 Podocytes (or visceral epithelial cells) are terminally differentiated cells lining the outer surface of the glomerular capillaries. As a major component of the ultrafiltration apparatus, podocytes have a complex cellular architecture consisting of cell body, major processes that extend outward from their cell body, forming interdigitated foot processes that enwrap the glomerular capillaries. peter owl:Class MAXO:0010201 biolink:NamedThing uterine ultrasonography The use of ultrasound to produce images of structures in the body of uterus. tmpxe7fu0cj_hp_relaxed.owl ultrasonography of body of uterus|body of uterus ultrasound examination|body of uterus ultrasound imaging procedure|body of uterus ultrasound procedure|sonography of body of uterus|body of uterus medical ultrasound|body of uterus sonography|body of uterus diagnostic sonography 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-2961 owl:Class UBERON:0009974 biolink:NamedThing lumen of Rathke's pouch An anatomical cavity that surrounded_by a Rathke's pouch. tmpxe7fu0cj_hp_relaxed.owl Rathkes pouch invagination EMAPA:25037|EHDAA2:0004138 uberon owl:Class UBERON:0007473 biolink:NamedThing lumen of epithelial sac The space within an epithelial sphere. tmpxe7fu0cj_hp_relaxed.owl cavity of vesicle AEO:0000079 EHDAA2:0003079 uberon owl:Class UBERON:0010843 biolink:NamedThing clavicle cartilage element A cartilaginous condensation that has the potential to develop into a clavicle. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18342 uberon owl:Class In most birds and mammals the clavicles are the only dermal elements in the trunk, and is the only membrane bone associated with the pectoral girdle in these taxa. However, there can be secondary cartilage, or subsequent endochondral ossification, or fusion with endochondral elements. In rodents, the lateral ends of the clavicle are endochondral but the main portion is dermal. HP:0009629 biolink:NamedThing Aplasia/Hypoplasia of the proximal phalanx of the thumb This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Absent/small innermost thumb bone|Absent/underdeveloped innermost thumb bone UMLS:C4024268 doelkens 2009-01-29T05:09:41Z human_phenotype owl:Class HP:0033732 biolink:NamedThing Advanced sclerotic lupus nephritis A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity. tmpxe7fu0cj_hp_relaxed.owl Class VI lupus nephritis 2021-04-16 13:47:29+00:00 peter owl:Class HP:0033726 biolink:NamedThing Lupus nephritis Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management. tmpxe7fu0cj_hp_relaxed.owl 2021-04-16 13:23:12+00:00 peter owl:Class GO:1902035 biolink:NamedThing positive regulation of hematopoietic stem cell proliferation Any process that activates or increases the frequency, rate or extent of hematopoietic stem cell proliferation. tmpxe7fu0cj_hp_relaxed.owl upregulation of hemopoietic stem cell proliferation|up regulation of hemopoietic stem cell proliferation|up-regulation of hematopoietic stem cell proliferation|activation of hematopoietic stem cell proliferation|positive regulation of hemopoietic stem cell proliferation|upregulation of hematopoietic stem cell proliferation|up-regulation of hemopoietic stem cell proliferation|activation of hemopoietic stem cell proliferation|up regulation of hematopoietic stem cell proliferation ss 2013-04-02T05:13:31Z biological_process owl:Class GO:2000648 biolink:NamedThing positive regulation of stem cell proliferation Any process that activates or increases the frequency, rate or extent of stem cell proliferation. tmpxe7fu0cj_hp_relaxed.owl dph 2011-04-27T01:04:25Z biological_process owl:Class UBERON:0003637 biolink:NamedThing manual digit 3 phalanx A phalanx that is part of a hand digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl long bone of digit of hand digit 3|phalanx of third finger|long bone of digit of 3 rd digit of hand|digit long bone of hand digit 3|3 rd digit of hand phalanx|3 rd digit of hand digit long bone|hand digit 3 digit long bone|digit long bone of 3 rd finger|phalanx of 3 rd digit of hand|hand digit 3 phalanx|phalanx of 3 rd finger|long bone of digit of third finger|phalanx of hand digit 3|third finger phalanx|hand digit 3 long bone of digit|3 rd finger phalanx|digit long bone of 3 rd digit of hand|3 rd finger long bone of digit|3 rd digit of hand long bone of digit|phalanx of middle finger|middle finger phalanx|manual digit III phalanx|third finger long bone of digit|digit long bone of third finger|3 rd finger digit long bone|long bone of digit of 3 rd finger|third finger digit long bone|fore limb digit 3 phalanx UMLS:C1708314|EMAPA:19117|NCIT:C52775|MA:0001391|FMA:35483 uberon owl:Class GO:0042749 biolink:NamedThing regulation of circadian sleep/wake cycle Any process that modulates the frequency, rate or extent of the circadian sleep/wake cycle. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0031688 biolink:NamedThing Erythroid dysplasia Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 22:04:44+00:00 peter owl:Class GO:0036145 biolink:NamedThing dendritic cell homeostasis The process of regulating the proliferation and elimination of dendritic cells such that the total number of dendritic cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. tmpxe7fu0cj_hp_relaxed.owl DC homeostasis bf 2012-03-12T11:05:36Z biological_process owl:Class GO:0014912 biolink:NamedThing negative regulation of smooth muscle cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of smooth muscle cell migration. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0014910 biolink:NamedThing regulation of smooth muscle cell migration Any process that modulates the frequency, rate or extent of smooth muscle cell migration. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:17203 biolink:NamedThing L-proline Pyrrolidine in which the pro-S hydrogen at position 2 is substituted by a carboxylic acid group. L-Proline is the only one of the twenty DNA-encoded amino acids which has a secondary amino group alpha to the carboxyl group. It is an essential component of collagen and is important for proper functioning of joints and tendons. It also helps maintain and strengthen heart muscles. tmpxe7fu0cj_hp_relaxed.owl (-)-2-pyrrolidinecarboxylic acid|L-Proline|(S)-pyrrolidine-2-carboxylic acid|L-alpha-pyrrolidinecarboxylic acid|proline|2-Pyrrolidinecarboxylic acid|P|L-(-)-proline|(-)-proline|(2S)-pyrrolidine-2-carboxylic acid|L-proline|PROLINE|(S)-2-carboxypyrrolidine|prolina|L-pyrrolidine-2-carboxylic acid|prolinum|(-)-(S)-proline|L-Prolin|(S)-2-pyrrolidinecarboxylic acid 0 C5H9NO2 InChI=1S/C5H9NO2/c7-5(8)4-2-1-3-6-4/h4,6H,1-3H2,(H,7,8)/t4-/m0/s1 ONIBWKKTOPOVIA-BYPYZUCNSA-N 115.13050 115.06333 OC(=O)[C@@H]1CCCN1 PMID:18802692|PMID:12770004|KEGG:C00148|PMID:22451406|HMDB:HMDB0000162|PMID:16657874|PMID:15894682|PMID:15838615|PMID:16501220|PMID:18973300|PMID:19215998|KEGG:D00035|Wikipedia:L-proline|PMID:17127472|PMID:11076505|PMID:16656443|PMID:19688381|PMID:15973048|PMID:19811425|Beilstein:80810|Drug_Central:4125|KNApSAcK:C00001388|CAS:147-85-3|PMID:22482728|PDBeChem:PRO|PMID:22770225|PMID:17608428|PMID:22201772|MetaCyc:PRO|Reaxys:80810|PMID:16190672|PMID:19656302|PMID:22475019|PMID:22139509|PMID:14975886|DrugBank:DB00172|PMID:16668324|PMID:19580280|PMID:16033917|PMID:15576824|Gmelin:50152|PMID:18551589|PMID:22491679 CHEBI:42067|CHEBI:6286|CHEBI:45100|CHEBI:13154|CHEBI:21373|CHEBI:45040|CHEBI:45159|CHEBI:184637 chebi_ontology owl:Class HP:0025508 biolink:NamedThing Gottron's papules Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints. tmpxe7fu0cj_hp_relaxed.owl Gottron papules 2017-05-14 23:39:07+00:00 HPO:probinson owl:Class CHEBI:16708 biolink:NamedThing adenine The parent compound of the 6-aminopurines, composed of a purine having an amino group at C-6. tmpxe7fu0cj_hp_relaxed.owl Adenine|A|ADENINE|Adenin|adenine|9H-purin-6-amine|6-Aminopurine|Ade 0 C5H5N5 InChI=1S/C5H5N5/c6-4-3-5(9-1-7-3)10-2-8-4/h1-2H,(H3,6,7,8,9,10) GFFGJBXGBJISGV-UHFFFAOYSA-N 135.12690 135.05450 Nc1ncnc2[nH]cnc12 Wikipedia:Adenine|Reaxys:608603|PMID:12951489|PDBeChem:ADE|PMID:12829005|PMID:11985597|Beilstein:608603|MetaCyc:ADENINE|PMID:15715490|PMID:17439666|Gmelin:3903|KEGG:D00034|PMID:8070089|DrugBank:DB00173|PMID:15063338|HMDB:HMDB0000034|KEGG:C00147|Drug_Central:89|CAS:73-24-5|KNApSAcK:C00001490 CHEBI:13733|CHEBI:40579|CHEBI:2470|CHEBI:22236 chebi_ontology owl:Class HP:0032298 biolink:NamedThing Increased circulating IgG1 level An abnormally increased concentration of the IgG1 subtype in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 22:52:27+00:00 Antibody responses to soluble protein antigens and membrane proteins primarily induce IgG1, but are accompanied with lower levels of the other subclasses, mostly IgG3 and IgG4. Because IgG1 is normally the most abundant subclass, a lack of IgG1 seen in a variety of primary and secondary antibody deficiencies, can result in decreased total IgG levels (hypogammaglobulinemia). IgG1 deficiencies, sometimes in combination with other IgG subclass deficiencies, are associated with recurrent infections. peter owl:Class HP:0010059 biolink:NamedThing Broad hallux phalanx An increase in width in one or more phalanges of the big toe. tmpxe7fu0cj_hp_relaxed.owl Wide bone of big toe|Broad bone of big toe|Broad phalanges of the hallux UMLS:C4021343 doelkens 2009-05-29T12:10:46Z owl:Class UBERON:0007213 biolink:NamedThing mesenchyme derived from head neural crest Mesenchyme that develops_from a cranial neural crest. tmpxe7fu0cj_hp_relaxed.owl head mesenchyme from neural crest|head mesenchyme from cranial neural crest|head neural crest derived mesenchyme EHDAA2:0000735|ZFA:0000787|EMAPA_RETIRED:16271|TAO:0000787|EMAPA:16271|EMAPA:16169|EFO:0003572 uberon owl:Class HP:0010077 biolink:NamedThing Broad distal phalanx of the hallux An increase in width of the distal phalanx of the big toe. tmpxe7fu0cj_hp_relaxed.owl Wide outermost bone of big toe|Broad outermost bone of big toe UMLS:C4024068 doelkens 2009-05-29T12:16:28Z human_phenotype owl:Class CHEBI:33856 biolink:NamedThing aromatic amino acid An amino acid whose structure includes an aromatic ring. tmpxe7fu0cj_hp_relaxed.owl Aromatic amino acid|aromatic amino acids 0 C2H4NO2R 88.085 74.02420 KEGG:C01021|Wikipedia:Aromatic_amino_acid CHEBI:2835|CHEBI:22623|CHEBI:13820 chebi_ontology owl:Class CHEBI:26835 biolink:NamedThing sulfur molecular entity tmpxe7fu0cj_hp_relaxed.owl sulfur molecular entity|sulfur molecular entities chebi_ontology owl:Class HP:0011389 biolink:NamedThing Functional abnormality of the inner ear An abnormality of the function of the inner ear. tmpxe7fu0cj_hp_relaxed.owl Functional abnormality of the inner ear UMLS:C4023382 The inner ear comprises the cochlea, three semicircular canals and the vestibule (labyrinth), and is directly responsible for hearing. Additionally, the vestibule and semicircular canals function to maintain balance or equilibrium. hecht 2012-03-09T04:58:30Z owl:Class HP:0031704 biolink:NamedThing Abnormal ear physiology Any functional anomaly of the ear. tmpxe7fu0cj_hp_relaxed.owl 2017-12-18 00:20:24+00:00 peter owl:Class GO:1901889 biolink:NamedThing negative regulation of cell junction assembly Any process that stops, prevents or reduces the frequency, rate or extent of cell junction assembly. tmpxe7fu0cj_hp_relaxed.owl downregulation of cell junction assembly|inhibition of cell junction assembly|down regulation of cell junction assembly|down-regulation of cell junction assembly tb 2013-02-06T19:40:41Z biological_process owl:Class HP:0040188 biolink:NamedThing Osteochondrosis Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0029429|MSH:D055034|SNOMEDCT_US:19579005 HPO:skoehler owl:Class GO:2001252 biolink:NamedThing positive regulation of chromosome organization Any process that activates or increases the frequency, rate or extent of chromosome organization. tmpxe7fu0cj_hp_relaxed.owl positive regulation of maintenance of genome integrity|positive regulation of chromosome organization and biogenesis|positive regulation of nuclear genome maintenance|positive regulation of chromosome organisation yaf 2011-12-02T02:01:26Z biological_process owl:Class HP:0001822 biolink:NamedThing Hallux valgus Lateral deviation of the great toe (i.e., in the direction of the little toe). tmpxe7fu0cj_hp_relaxed.owl Bunion|Lateral deviation of halluces|Lateral deviation of great toe SNOMEDCT_US:415692008|UMLS:C0006386|MSH:D000071378|SNOMEDCT_US:122480009|MSH:D006215|UMLS:C0018536 HP:0004682 human_phenotype owl:Class HP:0010051 biolink:NamedThing Deviation of the hallux Displacement of the big toe from its normal position. tmpxe7fu0cj_hp_relaxed.owl Displacement of big toe|Displacement of the hallux UMLS:C4021344 doelkens 2009-05-29T11:36:44Z HP:0004700 human_phenotype owl:Class HP:0002492 biolink:NamedThing Morphological abnormality of the corticospinal tract Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the corticospinal tract|Involvement of the corticospinal pathways UMLS:C4020852|UMLS:C4025704 HP:0006912 human_phenotype owl:Class PR:000005794 biolink:NamedThing ceruloplasmin A protein that is a translation product of the human CP gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl ferroxidase|CP Category=gene. protein owl:Class CHEBI:33778 biolink:NamedThing galactonates tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:33760 biolink:NamedThing hexonate tmpxe7fu0cj_hp_relaxed.owl hexonates|hexonate|aldohexonates chebi_ontology owl:Class UBERON:0036352 biolink:NamedThing wall of subclavian artery tmpxe7fu0cj_hp_relaxed.owl subclavian arterial wall FMA:15090 uberon owl:Class HP:0030578 biolink:NamedThing Pinhole visual acuity 1.0 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073051 owl:Class HP:0010392 biolink:NamedThing Abnormality of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the outermost bone of the pinky toe|Abnormality of the outermost bone of the little toe|Abnormality of the outermost bone of the pinkie toe UMLS:C4023862 doelkens 2009-07-16T11:52:18Z human_phenotype owl:Class CHEBI:32508 biolink:NamedThing glycinate An alpha-amino-acid anion that is the conjugate base of glycine, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl aminoacetate|H2N-CH2-COO(-)|gly(-)|glycinate|glycine anion -1 C2H4NO2 InChI=1S/C2H5NO2/c3-1-2(4)5/h1,3H2,(H,4,5)/p-1 DHMQDGOQFOQNFH-UHFFFAOYSA-M 74.05870 74.02475 NCC([O-])=O Beilstein:1852023|Reaxys:1852023|Gmelin:81890|UM-BBD_compID:c0559 chebi_ontology owl:Class HP:0000732 biolink:NamedThing Inflexible adherence to routines or rituals tmpxe7fu0cj_hp_relaxed.owl UMLS:C1837653 human_phenotype owl:Class GO:0046544 biolink:NamedThing development of secondary male sexual characteristics The process whose specific outcome is the progression of the secondary male sexual characteristics over time, from their formation to the mature structures. In male humans, these include growth of axillary, chest, and pubic hair, voice changes, and testicular/penile enlargement. Development occurs in response to sex hormone secretion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0045136 biolink:NamedThing development of secondary sexual characteristics The process whose specific outcome is the progression of the secondary sexual characteristics over time, from their formation to the mature structures. In humans, these include growth of axillary, chest, and pubic hair, voice changes, testicular/penile enlargement, breast development and menstrual periods. Development occurs in response to sex hormone secretion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:24651 biolink:NamedThing hydroxides Hydroxides are chemical compounds containing a hydroxy group or salts containing hydroxide (OH(-)). tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:4000039 biolink:NamedThing Reduced proportion of mucosal-associated invariant T cells A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 20:28:29+00:00 Flow cytometry may identify MAIT cells as CD3+Valpha7+CD161hi or Tet-MR1+CD161hi. robinp owl:Class HP:0008797 biolink:NamedThing Early ossification of capital femoral epiphyses Developmental acceleration of ossification of the proximal epiphysis of the femur. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024621 human_phenotype owl:Class HP:0010656 biolink:NamedThing Abnormal epiphyseal ossification An abnormality of the formation and mineralization of an epiphysis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the mineralisation or ossification of the epiphyses|Abnormal maturation of the end part of a bone UMLS:C4021246 doelkens 2010-02-25T09:43:04Z human_phenotype owl:Class HP:0000122 biolink:NamedThing Unilateral renal agenesis A unilateral form of agenesis of the kidney. tmpxe7fu0cj_hp_relaxed.owl Single kidney|Missing one kidney|Absent kidney on one side|Unilateral kidney agenesis UMLS:C0266294|Fyler:4509|SNOMEDCT_US:55726006 human_phenotype owl:Class HP:0000104 biolink:NamedThing Renal agenesis Agenesis, that is, failure of the kidney to develop during embryogenesis and development. tmpxe7fu0cj_hp_relaxed.owl Renal aplasia|Absent kidney|Missing kidney UMLS:C0542519|SNOMEDCT_US:204942005|Fyler:4503 Renal agenesis can occur as a unilateral or bilateral trait. HP:0008680|HP:0004745|HP:0000785 human_phenotype owl:Class HP:0100280 biolink:NamedThing Crohn's disease A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. tmpxe7fu0cj_hp_relaxed.owl Morbus Crohn|Granulomatous enteritis and colitis MSH:D003424|SNOMEDCT_US:34000006|UMLS:C0010346 doelkens 2010-08-10T09:26:05Z human_phenotype owl:Class CHEBI:58375 biolink:NamedThing trans-4-hydroxy-L-proline zwitterion An L-alpha-amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of trans-4-hydroxy-L-proline; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl (2S,4R)-4-hydroxypyrrolidinium-2-carboxylate|hydroxyproline zwitterion|trans-4-hydroxy-L-proline 0 C5H9NO3 InChI=1S/C5H9NO3/c7-3-1-4(5(8)9)6-2-3/h3-4,6-7H,1-2H2,(H,8,9)/t3-,4+/m1/s1 PMMYEEVYMWASQN-DMTCNVIQSA-N 131.12990 131.05824 O[C@H]1C[NH2+][C@@H](C1)C([O-])=O chebi_ontology owl:Class CHEBI:33709 biolink:NamedThing amino acid A carboxylic acid containing one or more amino groups. tmpxe7fu0cj_hp_relaxed.owl Aminosaeure|amino acids|Aminokarbonsaeure|Aminocarbonsaeure Wikipedia:Amino_acid CHEBI:22477|CHEBI:13815 chebi_ontology owl:Class HP:0031815 biolink:NamedThing Abnormal oral physiology A functional anomaly of the mouth (which is also known as the oral cavity). tmpxe7fu0cj_hp_relaxed.owl 2018-04-29 14:50:56+00:00 The physiological functions of the mouth include salivary gland secretory function, mastication (chewing) and preparation of food for swallowing. peter owl:Class HP:0008984 biolink:NamedThing Neck muscle hypoplasia Underdevelopment of muscles of the neck. tmpxe7fu0cj_hp_relaxed.owl Deficiency of neck muscle|Small neck muscle|Decreased size of neck muscle|Underdevelopment of neck muscle|Hypotrophic neck muscle UMLS:C1969000|UMLS:C4280408|UMLS:C4280409 human_phenotype owl:Class HP:0009004 biolink:NamedThing Hypoplasia of the musculature Underdevelopment of the musculature. tmpxe7fu0cj_hp_relaxed.owl Muscle hypoplasia|Underdeveloped muscle|Underdeveloped muscles|Poorly developed skeletal musculature UMLS:C0240414|SNOMEDCT_US:205530002 HP:0009034 human_phenotype owl:Class HP:0033498 biolink:NamedThing Segmental glomerulosclerosis away from the vascular and tubular poles Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 13:29:02+00:00 peter owl:Class HP:0032453 biolink:NamedThing Abnormal lip pigmentation Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal. tmpxe7fu0cj_hp_relaxed.owl 2019-03-08 11:06:30+00:00 peter owl:Class HP:0012695 biolink:NamedThing Decreased thalamic volume A reduction in the quantity of space occupied by the thalamus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022771 peter 2014-03-22T05:48:28Z human_phenotype owl:Class HP:0012693 biolink:NamedThing Abnormal thalamic size Deviation from the normal range of size of the thalamus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022773 peter 2014-03-22T05:45:51Z human_phenotype owl:Class HP:0010261 biolink:NamedThing Fragmentation of the epiphyses of the middle phalanges of the hand Fragmented appearance of the epiphyses of the middle phalanges of the hand. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the middle hand bones UMLS:C4023940 doelkens 2009-07-06T04:24:15Z human_phenotype owl:Class HP:0032199 biolink:NamedThing Abnormal prothrombin time Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. tmpxe7fu0cj_hp_relaxed.owl Abnormal PT 2019-01-19 15:34:30+00:00 peter owl:Class HP:0100226 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the innermost bone of the pinkie toe|Cone-shaped end part of the innermost bone of the little toe|Cone-shaped end part of the innermost bone of the pinky toe UMLS:C4022195 doelkens 2010-06-24T05:04:53Z human_phenotype owl:Class UBERON:0001970 biolink:NamedThing bile Vital aqueous secretion of the liver that is formed by hepatocytes and modified down stream by absorptive and secretory properties of the bile duct epithelium. tmpxe7fu0cj_hp_relaxed.owl gall|fel CALOHA:TS-1172|BTO:0000121|MESH:D001646|NCIT:C13192|FMA:62971|GAID:1157|UMLS:C0005388|ENVO:02000023|galen:Bile|ZFA:0005857|MA:0002513 uberon owl:Class In many species, bile is stored in the gallbladder and upon eating is discharged into the duodenum. protects the organism from enteric infections by excreting immune globulin A (IgA), inflammatory cytokines, and stimulating the innate immune system in the intestine|aids the process of digestion of lipids in the small intestine|bile salts function to emulsify dietary fats and facilitate their intestinal absorption|major excretory route for potentially harmful exogenous lipophilic substances|elimination of cholesterol|many hormones and pheromones are excreted in bile, and contribute to growth and development of the intestine in some species and provide attractants for the weaning of non-human vertebrates HP:0034090 biolink:NamedThing Anti-RuvBL1/2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 02:39:33+00:00 peter owl:Class HP:0002960 biolink:NamedThing Autoimmunity The occurrence of an immune reaction against the organism's own cells or tissues. tmpxe7fu0cj_hp_relaxed.owl Autoimmune disease|Autoimmunity|Autoimmune condition|Autoimmune disorder MSH:D001327|UMLS:C0004364|SNOMEDCT_US:85828009 human_phenotype owl:Class UBERON:0018561 biolink:NamedThing upper secondary canine tooth A secondary canine tooth that is part of a upper jaw region. tmpxe7fu0cj_hp_relaxed.owl upper permanent canine tooth|permanent upper canine tooth|maxillary secondary canine tooth FMA:55714 uberon owl:Class PATO:0000573 biolink:NamedThing increased length A length quality which is relatively large. tmpxe7fu0cj_hp_relaxed.owl long quality owl:Class UBERON:0002497 biolink:NamedThing acromion Region of the scapula where the latter meets with the clavicle: attachment point of the clavicle to the scapula in some taxa. tmpxe7fu0cj_hp_relaxed.owl acromion of scapula|scapular acromion|acromion process|acromion of the scapula MA:0002805|UMLS:C0001209|VSAO:0005067|AAO:0000826|OpenCyc:Mx4rvmrF8pwpEbGdrcN5Y29ycA|NCIT:C32048|MESH:D000174|FMA:23260|EMAPA:25119|GAID:187 http://upload.wikimedia.org/wikipedia/commons/7/79/Gray206.png uberon owl:Class Anterior rounded projection of the pars acromialis of the scapula.[AAO] relationship loss: part_of pars acromialis (AAO:0000752)[AAO] UBERON:0004530 biolink:NamedThing bony projection Anatomical projection that is composed of bone tissue. tmpxe7fu0cj_hp_relaxed.owl bony projections|bone process|projection of bone FMA:75433|ZFA:0001637 uberon owl:Class HP:0100175 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the outermost bone of the 4th toe UMLS:C4022246 doelkens 2010-06-24T04:53:36Z human_phenotype owl:Class GO:0099111 biolink:NamedThing microtubule-based transport A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0031851 biolink:NamedThing Reduced hematocrit A reduction below the normal ratio of the volume of red blood cells to the total volume of blood. tmpxe7fu0cj_hp_relaxed.owl Reduced Hct|Low hematocrit 2018-05-05 15:59:55+00:00 peter owl:Class HP:0031850 biolink:NamedThing Abnormal hematocrit Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal Hct 2018-05-05 15:58:22+00:00 Note that the hematocrit is one of the measurements that can contribution to the diagnosis of anemia or polycythemia, which is coded separately. peter owl:Class HP:0010988 biolink:NamedThing Abnormality of the extrinsic pathway An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023611 The extrinsic pathway is a protein activation cascade that contributes to blood coagulation and consists of the self-limited process linking exposure and activation of tissue factor to the activation of clotting factor X. peter 2011-02-08T01:59:22Z human_phenotype owl:Class UBERON:0006008 biolink:NamedThing fibrous ring of heart A ring of ribrous tissue that surrounds the atrioventricular and arterial orifices. tmpxe7fu0cj_hp_relaxed.owl Lower's ring|anulus fibrosus of heart|coronary tendon|fibrous ring of heart|anulus fibrosus cordis|annulus fibrosus cordis|atrioventricular ring|aortic annulus FMA:9497|BTO:0003628|EMAPA:37422 TODO - compare with ZFA atrioventricular ring, part of the conduction system uberon owl:Class UBERON:0011201 biolink:NamedThing muscle layer of small intestine A muscle layer that is part of a small intestine. tmpxe7fu0cj_hp_relaxed.owl muscular coat of small intestine|tunica muscularis (intestinum tenue)|tunica muscularis intestini tenuis|muscularis externa of small intestine|small intestine muscularis propria|muscular layer of small intestine FMA:14932|NCIT:C33569|UMLS:C0227269 uberon owl:Class GO:2000848 biolink:NamedThing positive regulation of corticosteroid hormone secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0020112 biolink:NamedThing Increased proportion of CD4+CD25+ regulatory T cells An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. tmpxe7fu0cj_hp_relaxed.owl Elevated proportion of CD4+CD25+ regulatory T cells|Increased proportion of CD4+CD25+ Treg cells 2019-04-08 20:50:53+00:00 robinp owl:Class HP:0410326 biolink:NamedThing Feather allergy Hypersensitivity in form of an adverse immune reaction against feathers. tmpxe7fu0cj_hp_relaxed.owl IgE-mediated feather allergy|Allergy to feathers|Immunoglobulin E-mediated feather allergy|Feather allergy owl:Class HP:0004664 biolink:NamedThing Facial midline hemangioma Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1862496 human_phenotype owl:Class HP:0010846 biolink:NamedThing EEG with persistent abnormal rhythmic activity tmpxe7fu0cj_hp_relaxed.owl EEG: persistent abnormal rhythmic activity UMLS:C4021216 peter 2010-07-10T08:18:01Z human_phenotype owl:Class UBERON:0001549 biolink:NamedThing dorsal metatarsal vein The dorsal metatarsal veins are veins which drain the metatarsus of the foot. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl metatarsal vein|venae metatarsales dorsales MA:0002105|FMA:44377|UMLS:C0835053|NCIT:C52689|EMAPA:37143 uberon owl:Class HP:0030329 biolink:NamedThing Retinal thinning Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). tmpxe7fu0cj_hp_relaxed.owl Retinal thinning UMLS:C3549703 owl:Class CL:0000339 biolink:NamedThing glioblast (sensu Vertebrata) An early neural cell developing from the early ependymal cell of the neural tube. tmpxe7fu0cj_hp_relaxed.owl spongioblast FMA:70564 cell owl:Class HP:0100050 biolink:NamedThing Ivory epiphyses of the 2nd toe Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the 2nd toe UMLS:C4022371 doelkens 2010-06-24T09:58:18Z human_phenotype owl:Class HP:0030139 biolink:NamedThing Excessive bleeding after a venipuncture An abnormal high amount of bleeding following the procedure of taking a blood sample. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022609 owl:Class HP:0032241 biolink:NamedThing Cervical neoplasm A tumor (abnormal growth of tissue) of the uterine cervix. tmpxe7fu0cj_hp_relaxed.owl 2019-01-26 19:47:41+00:00 peter owl:Class HP:0012888 biolink:NamedThing Abnormality of the uterine cervix An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022694 hecht 2014-06-11T09:40:02Z human_phenotype owl:Class HP:0010529 biolink:NamedThing Echolalia The tendency to repeat vocalizations made by another person. tmpxe7fu0cj_hp_relaxed.owl Echologia|Echoing another person's speech|Repeated speech|Echophrasia UMLS:C4280380|MSH:D004454|UMLS:C0013528|SNOMEDCT_US:64712007 peter 2009-09-20T08:17:27Z owl:Class HP:0032922 biolink:NamedThing Focal impaired awareness perseverative automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0004459 biolink:NamedThing Exostosis of the external auditory canal A benign bony growth projecting outward from a bone surface within the external auditory canal. tmpxe7fu0cj_hp_relaxed.owl External auditory canal exostoses SNOMEDCT_US:19560007|UMLS:C0155411 human_phenotype owl:Class HP:0000185 biolink:NamedThing Cleft soft palate Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. tmpxe7fu0cj_hp_relaxed.owl Cleft of soft palate|Cleft muscular palate|Cleft velum SNOMEDCT_US:253997002|MSH:C562950|UMLS:C0432098 human_phenotype owl:Class UBERON:0004786 biolink:NamedThing gastrointestinal system mucosa A mucosa that is part of a gastrointestinal system. tmpxe7fu0cj_hp_relaxed.owl mucosa of gut|digestive tract mucosa|gut mucosa|gut mucuous membrane MA:0001521|BTO:0000546|SCTID:410433007|BTO:0005568|EMAPA:36591 The gut mucosa of amphioxus has insulin-secreting cells. http://www.ncbi.nlm.nih.gov/pubmed/16417468 uberon owl:Class UBERON:0011138 biolink:NamedThing postcranial axial skeletal system Subdivision of the skeletal system which consists of the postcranial axial skeleton plus associated joints. tmpxe7fu0cj_hp_relaxed.owl post-cranial axial skeletal system|axial skeletal system FMA:302077 uberon http://purl.obolibrary.org/obo/uberon/docs/The-axial-skeleton owl:Class CL:0000353 biolink:NamedThing blastoderm cell An undifferentiated cell produced by early cleavages of the fertilized egg (zygote). tmpxe7fu0cj_hp_relaxed.owl blastomere BTO:0001473|FMA:72551 cell owl:Class CL:0000007 biolink:NamedThing early embryonic cell (metazoa) A cell found in the embryo before the formation of all the gem layers is complete. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class MPATH:404 biolink:NamedThing soft tissue tumor Neoplasms of the soft and connective tissues. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class MPATH:218 biolink:NamedThing neoplasm A tumor resulting from abnormal and uncontrolled autonomous new cell growth (proliferation)that may be benign or malignant. tmpxe7fu0cj_hp_relaxed.owl George Gkoutos mouse_pathology.ontology owl:Class GO:0002277 biolink:NamedThing myeloid dendritic cell activation involved in immune response The change in morphology and behavior of a myeloid dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpxe7fu0cj_hp_relaxed.owl myeloid dendritic cell activation during immune response biological_process owl:Class GO:0002275 biolink:NamedThing myeloid cell activation involved in immune response A change in the morphology or behavior of a myeloid cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. tmpxe7fu0cj_hp_relaxed.owl myeloid cell activation during immune response biological_process owl:Class CHEBI:35903 biolink:NamedThing oxo carboxylic acid anion Any carboxylic acid anion containing at least one oxo group. tmpxe7fu0cj_hp_relaxed.owl oxo carboxylic acid anions chebi_ontology owl:Class CHEBI:48854 biolink:NamedThing sulfurous acid tmpxe7fu0cj_hp_relaxed.owl trioxosulfuric acid|sulphurous acid|Sulfite|S(O)(OH)2|[SO(OH)2]|Sulfurous acid|sulfurous acid|schweflige Saeure|H2SO3|acide sulfureux|acido sulfuroso|dihydrogen trioxosulfate|dihydroxidooxidosulfur 0 H2O3S InChI=1S/H2O3S/c1-4(2)3/h(H2,1,2,3) LSNNMFCWUKXFEE-UHFFFAOYSA-N 82.08008 81.97247 OS(O)=O CAS:7782-99-2|KNApSAcK:C00019662|Gmelin:1458|UM-BBD_compID:c0348|KEGG:C00094|PDBeChem:SO3 CHEBI:9344|CHEBI:26837 chebi_ontology owl:Class HP:0003756 biolink:NamedThing Skeletal myopathy tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:75047002|UMLS:C1533847 human_phenotype owl:Class UBERON:0019315 biolink:NamedThing meibum An oily substance that prevents evaporation of the eye's tear film. tmpxe7fu0cj_hp_relaxed.owl tarsal gland secretion uberon owl:Class provides barrier to prevent dessication of cornea[ISBN:0123813611] part of surface lipid layer of tear film UBERON:0001866 biolink:NamedThing sebum Fatty lubricant matter secreted by sebaceous glands, and made of made of triglyceride oils, wax, squalene, and metabolytes of fat-producing cells[BTO,WP]. tmpxe7fu0cj_hp_relaxed.owl GAID:1168|BTO:0001981|ENVO:02000037|NCIT:C13276|MESH:D012629|FMA:61304|UMLS:C0036511|MA:0002538 uberon owl:Class The composition of sebum varies across species. In humans, the lipid content is as follows: 25% wax monoesters, 41% triglycerides, 16% free fatty acids, 12% squalene; Sapienic acid is a sebum fatty acid that is unique to humans. waterproofs skin GO:0070345 biolink:NamedThing negative regulation of fat cell proliferation Any process that stops or decreases the rate or extent of fat cell proliferation. tmpxe7fu0cj_hp_relaxed.owl down regulation of fat cell proliferation|negative regulation of adipocyte proliferation|down-regulation of fat cell proliferation|inhibition of fat cell proliferation|negative regulation of adipose cell proliferation|downregulation of fat cell proliferation biological_process owl:Class CL:0000458 biolink:NamedThing serotonin secreting cell A cell type that secretes 5-Hydroxytryptamine (serotonin). tmpxe7fu0cj_hp_relaxed.owl 5-HT secreting cell|5-Hydroxytryptamine secreting cell cell owl:Class CL:0000457 biolink:NamedThing biogenic amine secreting cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0000283 biolink:NamedThing Broad face Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). tmpxe7fu0cj_hp_relaxed.owl Increased width of face|Horizontal hyperplasia of face|Transverse hyperplasia of face|Increased horizontal dimension of face|Increased transverse dimension of face|Horizontal excess of face|Transverse excess of face|Broad facies|Wide face|Broad face|Increased breadth of face|Wide facies UMLS:C1859680 Note that broad face is distinct from round face. human_phenotype owl:Class CHEBI:38166 biolink:NamedThing organic heteropolycyclic compound tmpxe7fu0cj_hp_relaxed.owl organic heteropolycyclic compounds CHEBI:25429|CHEBI:38075 chebi_ontology owl:Class HP:0012042 biolink:NamedThing Aspirin-induced asthma A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction. tmpxe7fu0cj_hp_relaxed.owl Aspirin-induced asthma SNOMEDCT_US:407674008|MSH:D055963|UMLS:C1319853 peter 2012-08-01T11:22:04Z owl:Class HP:0011522 biolink:NamedThing Protanopia Blue and green cones only; no functional red cones. tmpxe7fu0cj_hp_relaxed.owl Red-blind SNOMEDCT_US:51445007|UMLS:C0155015|MSH:D003117 peter 2012-04-06T07:45:06Z human_phenotype owl:Class UBERON:0003643 biolink:NamedThing respiratory system arterial blood vessel An arterial blood vessel that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl MA:0001800|EMAPA:37565 uberon owl:Class UBERON:0003504 biolink:NamedThing respiratory system blood vessel A blood vessel that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of apparatus respiratorius|apparatus respiratorius blood vessel|blood vessel of respiratory system EMAPA:35995|EMAPA:35731|MA:0001799 uberon owl:Class HP:0410139 biolink:NamedThing Exercise induced anaphylaxis Anaphylaxis after physical activity. tmpxe7fu0cj_hp_relaxed.owl 2018-03-02 20:22:59+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0100845 biolink:NamedThing Anaphylactic shock An acute hypersensitivity reaction due to exposure to a previously encountered antigen. tmpxe7fu0cj_hp_relaxed.owl Anaphylaxis SNOMEDCT_US:39579001|UMLS:C0002792|MSH:D000707 Anaphylaxis may lead to rapidly progressing urticaria, respiratory distress, vascular collapse, systemic shock, and death if untreated. doelkens 2011-06-09T06:54:40Z owl:Class GO:0000313 biolink:NamedThing organellar ribosome A ribosome contained within a subcellular membrane-bounded organelle. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:0005840 biolink:NamedThing ribosome An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. tmpxe7fu0cj_hp_relaxed.owl ribosomal RNA|membrane bound ribosome|free ribosome Wikipedia:Ribosome|NIF_Subcellular:sao1429207766 GO:0033279 cellular_component owl:Class CHEBI:131927 biolink:NamedThing dicarboxylic acids and O-substituted derivatives A class of carbonyl compound encompassing dicarboxylic acids and any derivatives obtained by substitution of either one or both of the carboxy hydrogens. tmpxe7fu0cj_hp_relaxed.owl dicarboxylic acids and derivatives chebi_ontology owl:Class HP:0012102 biolink:NamedThing Abnormal mitochondrial number A deviation from the normal number of mitochondria per cell. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023043 peter 2012-09-08T11:03:33Z human_phenotype owl:Class GO:0009712 biolink:NamedThing catechol-containing compound metabolic process The chemical reactions and pathways involving a compound containing a pyrocatechol (1,2-benzenediol) nucleus or substituent. tmpxe7fu0cj_hp_relaxed.owl catechol metabolic process|catechol metabolism biological_process owl:Class HP:0031514 biolink:NamedThing Increased proportion of exhausted T cells An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells. tmpxe7fu0cj_hp_relaxed.owl 2017-09-22 02:12:49+00:00 peter owl:Class GO:0048744 biolink:NamedThing negative regulation of skeletal muscle fiber development Any process that stops, prevents, or reduces the frequency, rate or extent of skeletal muscle fiber development. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast. tmpxe7fu0cj_hp_relaxed.owl inhibition of skeletal muscle fiber development|downregulation of skeletal muscle fiber development|down-regulation of skeletal muscle fiber development|negative regulation of skeletal muscle fibre development|negative regulation of skeletal myofibre development|down regulation of skeletal muscle fiber development|negative regulation of skeletal myofiber development biological_process owl:Class UBERON:0001782 biolink:NamedThing pigmented layer of retina A monolayer of pigmented epithelium covering the neural retina; develops from the outer of the two layers of the optic cup[ZFA]. the pigmented cell layer just outside the neurosensory retina that nourishes retinal visual cells, and is firmly attached to the underlying choroid and overlying retinal visual cells[WP]. tmpxe7fu0cj_hp_relaxed.owl epithelium, retinal pigment|stratum pigmentosum (retina)|pigment epithelium of retina|pigmented epithelium|retinal pigment epithelium|p. pigmentosa retinae|pigmented retinal epithelium|retinal pigmented epithelium|retinal pigment layer|stratum pigmentosa retinae|pigmented retina epithelium|outer pigmented layer of retina|RPE|PRE|pigmented retina|stratum pigmentosum retinae FMA:58627|TAO:0000144|XAO:0003217|CALOHA:TS-0869|EHDAA:4765|ZFA:0000144|EMAPA:35738|AAO:0011096|MA:0003173|BTO:0001177|MA:0000279|EHDAA2:0001465|VHOG:0000536|UMLS:C0035322|NCIT:C33470|EMAPA:17172 http://upload.wikimedia.org/wikipedia/commons/5/55/Gray881.png uberon owl:Class A monolayer of pigmented epithelium covering the neural retina; develops from the outer of the two layers of the optic cup. Kimmel et al, 1995.[TAO]|The monolayer of pigmented epithelium covering the neural retina.[AAO] (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The outer layer of the optic cup becomes the pigment layer of the retina, whereas the inner layer differentiates into the photoreceptive cells and neuronal layers of the retina.[well established][VHOG] GO:0045934 biolink:NamedThing negative regulation of nucleobase-containing compound metabolic process Any cellular process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpxe7fu0cj_hp_relaxed.owl inhibition of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|downregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|down-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|down regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process biological_process owl:Class GO:0031968 biolink:NamedThing organelle outer membrane The outer, i.e. cytoplasm-facing in a cellular organelle, lipid bilayer of an organelle envelope. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0009964 biolink:NamedThing Duplication of the proximal phalanx of the 3rd finger Partial or complete duplication of the third proximal phalanx of hand. tmpxe7fu0cj_hp_relaxed.owl Duplication of the proximal bone of the middle finger|Partial/complete duplication of the proximal phalanx of the 3rd finger UMLS:C4021361 doelkens 2009-05-26T12:46:36Z human_phenotype owl:Class HP:0010475 biolink:NamedThing Cloacal exstrophy Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:20815007|UMLS:C0345217 peter 2009-09-15T10:08:32Z human_phenotype owl:Class HP:0009843 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Aplastic/hypoplastic middle phalanges|Absent/small middle finger bone of the hand|Short/absent middle phalanges|Short to absent middle phalanges|Absent/hypoplastic middle phalanges|Hypoplastic/aplastic middle phalanx|Aplasia/hypoplasia of middle phalanges|Absent/underdeveloped middle finger bone of the hand UMLS:C1862152 doelkens 2009-03-11T12:15:55Z HP:0005810|HP:0006148|HP:0006063 human_phenotype owl:Class UBERON:0005256 biolink:NamedThing trunk mesenchyme Mesenchyme that is part of a developing trunk. tmpxe7fu0cj_hp_relaxed.owl trunk and cervical mesenchyme EFO:0003485|EHDAA:377|VHOG:0000281|ZFA:0000081|EHDAA2:0002092|EMAPA:16177|TAO:0000081 uberon owl:Class PATO:0001800 biolink:NamedThing water composition A composition quality inhering in an bearer by virtue of the quantities or relative ratios of water of the inhering entity. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0000025 biolink:NamedThing composition A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts. tmpxe7fu0cj_hp_relaxed.owl structure, composition|composed of|compositionality|content For example calcium composition (which may inhere in bone), haemoglobin composition (which may inhere in blood). PATO:0002015 quality owl:Class HP:0009455 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 3rd finger Fusion of the proximal phalanx of the 3rd finger with another bone. tmpxe7fu0cj_hp_relaxed.owl Fused innermost bone of middle finger UMLS:C4024350 doelkens 2009-01-14T04:33:41Z human_phenotype owl:Class HP:0009445 biolink:NamedThing Symphalangism of the 3rd finger Fusion of two or more bones of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Fused middle finger UMLS:C4024358 doelkens 2009-01-14T04:09:01Z human_phenotype owl:Class HP:0040263 biolink:NamedThing Jaw ankylosis tmpxe7fu0cj_hp_relaxed.owl Difficulty opening mouth SNOMEDCT_US:285466001|UMLS:C4280688|UMLS:C0563350 owl:Class CHEBI:37175 biolink:NamedThing organic hydride tmpxe7fu0cj_hp_relaxed.owl organic hydrides chebi_ontology owl:Class HP:0100391 biolink:NamedThing Short distal phalanx of the 5th toe Developmental hypoplasia of the distal phalanx of little toe. tmpxe7fu0cj_hp_relaxed.owl Short outermost bone of the little toe|Short outermost bone of the pinky toe|Short distal phalanx of the fifth toe|Hypoplastic/small distal phalanx of the 5th toe|Short outermost bone of the pinkie toe UMLS:C4021006 human_phenotype owl:Class HP:0100371 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped outermost pinky toe bone|Absent/small outermost little toe bone|Absent/small outermost pinkie toe bone|Absent/small outermost pinky toe bone UMLS:C4022120 human_phenotype owl:Class CHEBI:26935 biolink:NamedThing tetraterpenoid tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:26873 biolink:NamedThing terpenoid Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group. tmpxe7fu0cj_hp_relaxed.owl terpenoids|terpenoide|Terpenoid|terpenoides Wikipedia:Terpenoid chebi_ontology owl:Class HP:0034009 biolink:NamedThing Pelvic lipomatosis Overgrowth of fat in the perivesical and perirectal area. tmpxe7fu0cj_hp_relaxed.owl 2021-08-22 21:26:45+00:00 peter owl:Class HP:0001012 biolink:NamedThing Multiple lipomas The presence of multiple lipomas (a type of benign tissue made of fatty tissue). tmpxe7fu0cj_hp_relaxed.owl Multiple fatty lumps|Lipomatosis|Lipomas SNOMEDCT_US:404062002|SNOMEDCT_US:93163002|UMLS:C0745730|SNOMEDCT_US:46720004|MSH:D008067|UMLS:C0023798|NCIT:C3192 A lipoma is a benign tumor composed of fatty tissue. They are the most common form of soft tissue tumor and are usually soft to the touch, movable, and generally painless (but there is a separate entity of painful multiple lipomas which is a hereditary disease called Dercum disease or adiposis dolorosa). Many lipomas are small (under one centimeter diameter) but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults from 40 to 60 years of age, but can also be found in children. owl:Class GO:0098633 biolink:NamedThing collagen fibril binding Binding to a collagen fibril. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class GO:0010894 biolink:NamedThing negative regulation of steroid biosynthetic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0010045 biolink:NamedThing 1st arch maxillary mesenchyme Mesenchyme that is part of a 1st arch maxillary component. tmpxe7fu0cj_hp_relaxed.owl maxillary mesenchyme|maxillary component mesenchyme|mesenchyme of maxillary component EMAPA:16391|EHDAA2:0000041 uberon owl:Class UBERON:0035119 biolink:NamedThing diastema between incisors A space or gap any two incisors. This may be a midline diastema between central incisors, or a diastema located entirely in a single jaw quadrant between lateral incisors. tmpxe7fu0cj_hp_relaxed.owl interdental space, incisors|incisor diastema uberon owl:Class UBERON:0012111 biolink:NamedThing diastema A space or gap between two consecutive teeth. tmpxe7fu0cj_hp_relaxed.owl diastemata|interdental space MESH:A14.254.333|FMA:77271 UBERON:0013134 uberon owl:Class Many species of mammals have diastemata as a normal feature, most commonly between the incisors and molars HP:0007291 biolink:NamedThing Posterior fossa cyst A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857353 HP:0006985 owl:Class HP:0030661 biolink:NamedThing Vitreous snowballs Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1563272|SNOMEDCT_US:417393008 Vitreous snowballs can be observed in intermediate uveitis. ORCID:0000-0003-0986-4123 owl:Class HP:0100171 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the outermost bone of the 4th toe UMLS:C4022250 doelkens 2010-06-24T04:53:36Z human_phenotype owl:Class HP:0100068 biolink:NamedThing Cone-shaped epiphyses of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the 4th toe bone UMLS:C4022353 doelkens 2010-06-24T09:59:30Z human_phenotype owl:Class UBERON:0005331 biolink:NamedThing mesonephric renal vesicle The renal vesicle is the primordial structure of the mesonephric nephron epithelium, and is formed by the condensation of mesenchymal cells[GO]. tmpxe7fu0cj_hp_relaxed.owl mesonephric vesicle ZFA:0005586 uberon owl:Class UBERON:0005103 biolink:NamedThing mesonephric epithelium An epithelium that is part of a mesonephros [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0001518 biolink:NamedThing skin of wrist A zone of skin that is part of a wrist [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl wrist skin|zone of skin of wrist|wrist zone of skin|zone of skin of carpal region|carpal region zone of skin NCIT:C52752|MA:0000638|EMAPA:37351|UMLS:C0222223|FMA:38280 uberon owl:Class UBERON:0001519 biolink:NamedThing skin of manus A zone of skin that is part of a manus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl skin of hand|manus skin|skin of fore-paw|hand skin MA:0000630|NCIT:C52753|EMAPA:18486|FMA:38295|UMLS:C0222224 uberon owl:Class HP:0002897 biolink:NamedThing Parathyroid adenoma A benign tumor of the parathyroid gland that can cause hyperparathyroidism. tmpxe7fu0cj_hp_relaxed.owl Parathyroid adenomas UMLS:C0262587|MSH:D010282|SNOMEDCT_US:128474007|ICD-10:D35.1|NCIT:C2855 HP:0008257 human_phenotype owl:Class HP:0100733 biolink:NamedThing Neoplasm of the parathyroid gland A tumor (abnormal growth of tissue) of the parathyroid gland. tmpxe7fu0cj_hp_relaxed.owl Parathyroid neoplasia UMLS:C0030521|MSH:D010282|NCIT:C3262|SNOMEDCT_US:127020005 doelkens 2011-06-06T05:09:38Z owl:Class NBO:0000656 biolink:NamedThing somatic sensation related behavior phenotype "A phenotype manifested by a behavior related to the sensations arising from the skin and from the muscles, tendons, and joints." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-05-27T03:20:39Z George Gkoutos behavior_ontology owl:Class NBO:0000655 biolink:NamedThing sensation behavior phenotype "Observable characteristic of behavior related any of the five senses -- vision, touch, smell, taste, and hearing." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-05-27T03:06:17Z George Gkoutos behavior_ontology owl:Class HP:0012176 biolink:NamedThing Abnormal natural killer cell morphology An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells. tmpxe7fu0cj_hp_relaxed.owl Abnormality of natural killer cells|Abnormal NK cells UMLS:C4021098 peter 2013-02-23T10:02:16Z human_phenotype owl:Class UBERON:0005594 biolink:NamedThing head somite Somite located in the head region, caudal to the otic vesicle. tmpxe7fu0cj_hp_relaxed.owl cranial somite|occipital somite EMAPA:16172|EHDAA2:0003437|XAO:0000313 uberon owl:Class in humans this includes somites 1-4 They provide the epaxial and hypaxial muscles of the neck, the pharyngeal and laryngeal muscles that develop in the caudal branchial arches and the musculature of the tongue. Despite their localisation in the head, myogenic precursors from occipital somites essentially follow the trunk programmes (E. H. Walters and S. D., unpublished). during evolution, have been secondarily incorporated into the head (Gans and Northcutt, 1983) EHDAA2 has both 'head somite' and 'head somite group', with part_of and develops_from for latter UBERON:0004771 biolink:NamedThing posterior nasal aperture Opening/conduit between the nasal cavity and the nasopharynx[AAO] The choanae are separated by the vomer[WP]. tmpxe7fu0cj_hp_relaxed.owl posterior naris|internal naris|posterior nasal apperture|choana|nasopharyngeal naris|posterior choana|choanae MA:0001323|EMAPA:17849|AAO:0000093|EHDAA2:0000242|VHOG:0000545|XAO:0000277|FMA:53143|EHDAA:7842 http://upload.wikimedia.org/wikipedia/commons/8/87/Gray855.png uberon owl:Class One of the paired openings from the nasal cavities into the pharynx. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-6, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]|Opening between the nasal cavity and the nasopharynx.[AAO] The choana, a unique 'internal nostril' opening from the nasal sac into the roof of the mouth, is a key part of the tetrapod (land vertebrate) respiratory system. It was the first component of the tetrapod body plan to evolve, well before the origin of limbs, and is therefore crucial to our understanding of the beginning of the fish-tetrapod transition. (...) Here we present new material of Kenichthys, a 395-million-year-old fossil fish from China, that provides direct evidence for the origin of the choana and establishes its homology: it is indeed a displaced posterior external nostril that, during a brief transitional stage illustrated by Kenichthys, separated the maxilla from the premaxilla.[well established][VHOG] Fish don't have choanae, instead they have two pairs of external nostrils|In addition to tetrapods, the lungfish has internal nostrils too. In tetrapods the exhalant nostril (choana) empties into the buccal cavity. UBERON:0010425 biolink:NamedThing internal naris A naris that is located inside the nasal cavity and connects to the pharynx. tmpxe7fu0cj_hp_relaxed.owl internal nostril|choana|internal nares|internal choana|choanae NCIT:C32856 uberon owl:Class choanal In humans the only internal naris is the posterior nasal aperture, which connects to the nasopharynx GO:1902910 biolink:NamedThing positive regulation of melanosome transport Any process that activates or increases the frequency, rate or extent of melanosome transport. tmpxe7fu0cj_hp_relaxed.owl up-regulation of melanosome transport|upregulation of melanosome transport|activation of melanosome transport|up regulation of melanosome transport als 2014-04-17T11:40:34Z biological_process owl:Class CHEBI:23213 biolink:NamedThing choline ester tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:35701 biolink:NamedThing ester A compound formally derived from an oxoacid RkE(=O)l(OH)m (l > 0) and an alcohol, phenol, heteroarenol, or enol by linking with formal loss of water from an acidic hydroxy group of the former and a hydroxy group of the latter. tmpxe7fu0cj_hp_relaxed.owl esters|Ester Wikipedia:Ester|KEGG:C00287 CHEBI:23960|CHEBI:4859 chebi_ontology owl:Class HP:0004787 biolink:NamedThing Fulminant hepatitis Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:427044009|UMLS:C0302809 Note that different definitions of fulminant hepatitis are used in the medical literature. human_phenotype owl:Class HP:0004448 biolink:NamedThing Fulminant hepatic failure Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:197270009|UMLS:C0162557|SNOMEDCT_US:235884008|MSH:D017114 peter 2008-03-18T10:09:00Z human_phenotype owl:Class HP:0025683 biolink:NamedThing Abnormal amyloid beta 42 peptide CSF concentration Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form. tmpxe7fu0cj_hp_relaxed.owl The amyloid cascade hypothesis has been the prevailing paradigm for understanding Alzheimer's disease (AD) pathogenesis. According to this hypothesis, the fibrillogenic 42-amino acid beta amyloid peptide (Abeta42) aggregates into toxic beta-sheet rich assemblies, triggering a cascade of neurotoxic events, including intracellular tau accumulation as neurofibrillary tangles and neuroinflammation, which ultimately result in neurodegeneration and subsequent cognitive impairment. peterrobinson owl:Class HP:0025688 biolink:NamedThing Abnormal amyloid beta peptide CSF concentration Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class GO:0048247 biolink:NamedThing lymphocyte chemotaxis The directed movement of a lymphocyte in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0005212 biolink:NamedThing Anal mucosal leukoplakia Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844632 human_phenotype owl:Class CHEBI:133251 biolink:NamedThing 3-hydroxydicarboxylate(2-) A dicarboxylic acid dianion that results from the removal of a proton from both of the carboxylic acid groups of any 3-hydroxydicarboxylic acid. tmpxe7fu0cj_hp_relaxed.owl 3-hydroxydicarboxylic acid dianion(2-)|a 3-hydroxy dicarboxylic acid -2 C4H4O5R 132.072 132.00587 C(*C(CC(=O)[O-])O)([O-])=O chebi_ontology owl:Class GO:0150146 biolink:NamedThing cell junction disassembly The disaggregation of a cell junction into its constituent components. tmpxe7fu0cj_hp_relaxed.owl bc 2019-12-08T11:12:13Z biological_process owl:Class CHEBI:78954 biolink:NamedThing (omega-1)-hydroxy fatty acid A hydroxy fatty acid that is a straight-chain fatty acid in which one of the hydrogens attached to the carbon adjacent to the terminal methyl group (i.e. at the (omega-1) position) is replaced by a hydroxy group. tmpxe7fu0cj_hp_relaxed.owl (omega-1)-hydroxy fatty acids chebi_ontology owl:Class CHEBI:35681 biolink:NamedThing secondary alcohol A secondary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has two other carbon atoms attached to it. tmpxe7fu0cj_hp_relaxed.owl Secondary alcohol|R-CHOH-R'|secondary alcohols|a secondary alcohol 0 CH2OR2 30.026 30.01056 *C(*)O KEGG:C00432|KEGG:C01612 CHEBI:58662|CHEBI:13686|CHEBI:9077|CHEBI:8741|CHEBI:26617|CHEBI:13425 chebi_ontology owl:Class HP:0000199 biolink:NamedThing Tongue nodules tmpxe7fu0cj_hp_relaxed.owl Lingual nodules UMLS:C0241438 human_phenotype owl:Class HP:0003436 biolink:NamedThing Prolonged miniature endplate currents An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. tmpxe7fu0cj_hp_relaxed.owl Prolonged miniature endplate potentials|Prolonged MEPP|Prolonged MEPC UMLS:C1864238 HP:0003479 owl:Class HP:0006205 biolink:NamedThing Irregular phalanges Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance. tmpxe7fu0cj_hp_relaxed.owl Irregular finger bones UMLS:C4025081 human_phenotype owl:Class GO:1901570 biolink:NamedThing fatty acid derivative biosynthetic process The chemical reactions and pathways resulting in the formation of fatty acid derivative. tmpxe7fu0cj_hp_relaxed.owl fatty acid derivative anabolism|fatty acid derivative biosynthesis|fatty acid derivative synthesis|fatty acid derivative formation pr 2012-11-04T17:13:44Z biological_process owl:Class GO:1901568 biolink:NamedThing fatty acid derivative metabolic process The chemical reactions and pathways involving fatty acid derivative. tmpxe7fu0cj_hp_relaxed.owl fatty acid derivative metabolism pr 2012-11-04T17:13:36Z biological_process owl:Class HP:0001026 biolink:NamedThing Penetrating foot ulcers tmpxe7fu0cj_hp_relaxed.owl Penetrating foot ulcers UMLS:C4025809 human_phenotype owl:Class HP:0200042 biolink:NamedThing Skin ulcer A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. tmpxe7fu0cj_hp_relaxed.owl Open skin sore MEDDRA:10040943|SNOMEDCT_US:46742003|MSH:D012883|UMLS:C0037299 sebastiankohler 2010-06-18T02:17:00Z human_phenotype owl:Class GO:0048512 biolink:NamedThing circadian behavior The specific behavior of an organism that recurs with a regularity of approximately 24 hours. tmpxe7fu0cj_hp_relaxed.owl circadian rhythm behavior biological_process owl:Class GO:0007622 biolink:NamedThing rhythmic behavior The specific behavior of an organism that recur with measured regularity. tmpxe7fu0cj_hp_relaxed.owl rhythmic behaviour|rhythmic behavioral response to stimulus|rhythmic behavioural response to stimulus biological_process owl:Class HP:0006210 biolink:NamedThing Postaxial oligodactyly tmpxe7fu0cj_hp_relaxed.owl UMLS:C1867927 human_phenotype owl:Class CHEBI:33653 biolink:NamedThing aliphatic compound Any acyclic or cyclic, saturated or unsaturated carbon compound, excluding aromatic compounds. tmpxe7fu0cj_hp_relaxed.owl aliphatic compounds chebi_ontology owl:Class GO:0060950 biolink:NamedThing cardiac glial cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a glial cell of the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2009-09-29T03:06:37Z biological_process owl:Class HP:0032797 biolink:NamedThing Focal aware sensory seizure with olfactory features Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant. tmpxe7fu0cj_hp_relaxed.owl These seizures involve the mesial temporal or orbitofrontal regions. peter owl:Class HP:0011161 biolink:NamedThing Focal sensory seizure with olfactory features Seizures characterized by olfactory phenomena as its first clinical manifestation. tmpxe7fu0cj_hp_relaxed.owl Olfactory auras|Focal olfactory seizure|Partial olfactory seizure|Olfactory aura UMLS:C4023504 These seizures involve the mesial temporal or orbitofrontal regions. peter 2011-10-18T02:28:55Z owl:Class GO:1990266 biolink:NamedThing neutrophil migration The movement of a neutrophil within or between different tissues and organs of the body. tmpxe7fu0cj_hp_relaxed.owl sl 2014-01-10T00:17:47Z biological_process owl:Class UBERON:0002396 biolink:NamedThing vomer The triangular flat bone of the nasal septum. tmpxe7fu0cj_hp_relaxed.owl prevomer|vomer bone AAO:0000633|UMLS:C0242403|TAO:0000308|MA:0001496|FMA:9710|ZFA:0000308|NCIT:C33888|OpenCyc:Mx4rv6jKWZwpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/7/77/Illu_facial_bones.jpg uberon owl:Class Paired, palatal bones of intramembranous origin that lie ventral to the olfactory region and help to floor the nasal capsules.[AAO]|Dermal bone that underlies the mesethmoid and inserts in a fossa on the anteroventral surface of the parasphenoid.[TAO] relationship loss: overlaps mesethmoid-vomer joint (TAO:0001680)[TAO]|relationship loss: overlaps autopalatine-vomer joint (TAO:0001784)[TAO] In bony fish, the vomers are flattened, paired, bones forming the anterior part of the roof of the mouth, just behind the premaxillary bones. In many species, they have teeth, supplementing those in the jaw proper; in some extinct species the teeth on the vomers were actually larger than the primary set. In amphibians and reptiles, the vomers become narrower, due to the presence of the enlarged choanae (the inner part of the nostrils) on either side, and they may extend further back in the jaw. They are typically small in birds, where they form the upper hind part of the beak, again being located between the choanae. In mammals, the vomers have become narrower still, and are fused into a single, vertically oriented bone. The development of the hard palate beneath the vomer means that the bone is now located in a nasal chamber, separate from the mouth[WP] The vomer is paired in some taxa (e.g., Amia) while unpaired in others (e.g., teleosts).[TAO] UBERON:0014763 biolink:NamedThing fused metatarsal bones 2-4 An element formed from the fusion of metapodium bones 2, 3 and 4 in the pedal autopod. tmpxe7fu0cj_hp_relaxed.owl cannon bone|fused central metatarsals|metatarsal 2+3+4|fused metatarsals 2-4 uberon owl:Class The cannon bone of the 3-toed jerboa (jaculus jaculus) is the postnatal fusion of the 3 central metatarsals, which are distinct ossified elements prenatally PR:000002979 biolink:NamedThing lymphocyte antigen 6A-2/6E-1 An Ly-6-like protein that is a translation product of the mouse Ly6a gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl Ly6a|SCA-1|Ly6|TAP|T-cell-activating protein|stem cell antigen 1|Ly-6A.2/Ly-6E.1 Category=gene. Requested by=CL. protein owl:Class GO:0002760 biolink:NamedThing positive regulation of antimicrobial humoral response Any process that activates or increases the frequency, rate, or extent of an antimicrobial humoral response. tmpxe7fu0cj_hp_relaxed.owl up-regulation of antimicrobial humoral response|stimulation of antimicrobial humoral response|up regulation of antimicrobial humoral response|activation of antimicrobial humoral response|upregulation of antimicrobial humoral response biological_process owl:Class GO:0002922 biolink:NamedThing positive regulation of humoral immune response Any process that activates or increases the frequency, rate, or extent of a humoral immune response. tmpxe7fu0cj_hp_relaxed.owl up-regulation of humoral immune response|up regulation of humoral immune response|activation of humoral immune response|stimulation of humoral immune response|upregulation of humoral immune response biological_process owl:Class HP:0032914 biolink:NamedThing Focal aware perseverative automatism seizure A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032902 biolink:NamedThing Focal perseverative automatism seizure A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0001276 biolink:NamedThing epithelium of stomach The epithelial layer of the stomach . tmpxe7fu0cj_hp_relaxed.owl ventriculus epithelium|epithelial tissue of stomach|epithelial tissue of ventriculus|epithelium of ventriculus|ventriculus epithelial tissue|stomach epithelium|stomach epithelial tissue|gastric epithelium EMAPA:17023|FMA:17091|SCTID:64977002|CALOHA:TS-2068|VHOG:0001433|MA:0001610|BTO:0000500|EHDAA2:0001918 uberon owl:Class in FMA this is classified as simple columnar, MA divides this into squamous and glandular GO:0002577 biolink:NamedThing regulation of antigen processing and presentation Any process that modulates the frequency, rate, or extent of antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0032981 biolink:NamedThing Absent bronchoalveolar dimeric surfactant-protein B Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid. tmpxe7fu0cj_hp_relaxed.owl Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-B may result of surfactant metabolism dysfunction. peter owl:Class GO:2000351 biolink:NamedThing regulation of endothelial cell apoptotic process Any process that modulates the frequency, rate or extent of endothelial cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of programmed cell death of endothelial cells by apoptosis|regulation of apoptosis of endothelial cells|regulation of endothelial cell programmed cell death by apoptosis|regulation of programmed cell death, endothelial cells|regulation of killing of endothelial cells|regulation of endothelial cell apoptosis mah 2011-02-03T10:43:16Z biological_process owl:Class UBERON:0000410 biolink:NamedThing bronchial mucosa A mucosa that is part of a bronchus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl organ mucosa of bronchi|bronchial trunk mucosa|mucosa of bronchial trunk|mucosa of organ of bronchi|mucosa of organ of bronchus|bronchus mucosa of organ|bronchus mucous membrane|bronchial trunk mucous membrane|mucous membrane of bronchi|bronchi organ mucosa|mucosa of bronchi|mucosa of bronchus|bronchi mucous membrane|bronchi mucosa|mucosa of organ of bronchial trunk|bronchus mucosa|bronchial trunk organ mucosa|mucous membrane of bronchial trunk|bronchus organ mucosa|bronchi mucosa of organ|mucous membrane of bronchus|bronchial trunk mucosa of organ|organ mucosa of bronchus|tunica mucosa bronchi|organ mucosa of bronchial trunk BTO:0001846|FMA:62652 uberon owl:Class UBERON:0015021 biolink:NamedThing forelimb endochondral element A forelimb bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl forelimb skeletal element uberon owl:Class GO:0032292 biolink:NamedThing peripheral nervous system axon ensheathment The process in which a Schwann cell membrane closes around an axon in the peripheral nervous system. This can be a myelinating or a non-myelinating neuron-glial interaction. tmpxe7fu0cj_hp_relaxed.owl ensheathment of axons in peripheral nervous system biological_process owl:Class GO:2000727 biolink:NamedThing positive regulation of cardiac muscle cell differentiation Any process that activates or increases the frequency, rate or extent of cardiac muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of cardiomyocyte differentiation|positive regulation of heart muscle cell differentiation vk 2011-06-08T10:51:15Z biological_process owl:Class HP:0010096 biolink:NamedThing Complete duplication of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the outermost bone of the big toe UMLS:C4024051 doelkens 2009-05-29T12:19:30Z human_phenotype owl:Class HP:0010100 biolink:NamedThing Complete duplication of hallux phalanx Complete duplication of one or more phalanx of big toe. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of big toe bones|Complete duplication of the phalanges of the hallux UMLS:C4021336 doelkens 2009-05-29T12:22:12Z human_phenotype owl:Class UBERON:0011370 biolink:NamedThing transverse process of atlas A transverse process of vertebra that is part of a vertebral bone 1. tmpxe7fu0cj_hp_relaxed.owl FMA:23981 uberon owl:Class UBERON:0013505 biolink:NamedThing cervical vertebra cartilage element A cervical vertebra endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl cervical vertebral cartilage condensation group EHDAA2:0000240 uberon owl:Class HP:3000028 biolink:NamedThing Abnormality of depressor anguli oris muscle An abnormality of a depressor anguli oris muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073237 vasilevs 2015-08-07T00:16:20Z human_phenotype owl:Class NCBITaxon:376913 biolink:NamedThing Haplorrhini tmpxe7fu0cj_hp_relaxed.owl owl:Class NCBITaxon:9443 biolink:NamedThing Primates tmpxe7fu0cj_hp_relaxed.owl owl:Class NCBITaxon:4891 biolink:NamedThing Saccharomycetes tmpxe7fu0cj_hp_relaxed.owl Hemiascomycetes GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147537 biolink:NamedThing Saccharomycotina tmpxe7fu0cj_hp_relaxed.owl true yeasts GC_ID:1 ncbi_taxonomy owl:Class CHEBI:37176 biolink:NamedThing mononuclear parent hydride tmpxe7fu0cj_hp_relaxed.owl mononuclear parent hydrides|mononuclear hydrides|mononuclear hydride chebi_ontology owl:Class GO:0050688 biolink:NamedThing regulation of defense response to virus Any process that modulates the frequency, rate or extent of the antiviral response of a cell or organism. tmpxe7fu0cj_hp_relaxed.owl regulation of antiviral response biological_process owl:Class GO:0051716 biolink:NamedThing cellular response to stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. tmpxe7fu0cj_hp_relaxed.owl Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class HP:0010458 biolink:NamedThing Female pseudohermaphroditism Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:8800006|UMLS:C0238394|MSH:D058489 peter 2009-09-15T08:21:32Z human_phenotype owl:Class UBERON:0002257 biolink:NamedThing ventral horn of spinal cord The ventral grey column of the spinal cord[MP]. The neurons of the ventral region of the mature spinal cord participate in motor output[GO]. tmpxe7fu0cj_hp_relaxed.owl ventral spinal cord|ventral horn of the spinal cord|cornu anterius medullae spinalis|ventral region of spinal cord|columna grisea anterior medullae spinalis|ventral horns spinal cord|anterior horn (spinal cord)|ventral grey column of spinal cord|spinal cord ventral horn|anterior gray horn of spinal cord|ventral horn spinal cord|anterior gray column of spinal cord|ventral grey horn|ventral gray column of spinal cord|spinal cord anterior horn|anterior grey column of spinal cord|ventral gray matter of spinal cord|anterior horn|anterior column of the spinal cord|anterior column BTO:0005151|TAO:0000702|EMAPA:35794|FMA:256541|SCTID:279443000|ZFA:0000702|Wikipedia:Anterior_horn_of_spinal_cord|VHOG:0001288|MA:0001134|NCIT:C33859|EMAPA:18575|BIRNLEX:2668|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1751|BAMS:VH|UMLS:C0228590|UMLS:C0228569 uberon owl:Class The anterior horn of the spinal cord (or anterior cornu, or anterior column, or ventral horn) is the ventral (front) grey matter section of the spinal cord. The anterior horn contains motor neurons that affect the axial muscles while the posterior horn receives information regarding touch and sensation. The anterior horn is where the cell bodies of alpha motorneurons are located[Wikipedia:Anterior_horn_of_spinal_cord]. UBERON:0016550 biolink:NamedThing spinal cord column tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0000388 biolink:NamedThing epiglottis A part of the pharynx that consists of a flap of elastic cartilage tissue plus a mucous membrane covering, attached to the entrance of the larynx. The epiglottis is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink[MP,modified]. tmpxe7fu0cj_hp_relaxed.owl FMA:55130|OpenCyc:Mx4rvVjxE5wpEbGdrcN5Y29ycA|NCIT:C12709|BTO:0001628|EMAPA:18289|UMLS:C0014540|MESH:A02.165.507.411|EHDAA2:0004081|GAID:111 http://upload.wikimedia.org/wikipedia/commons/e/e2/Gray958.png uberon owl:Class epiglottal UBERON:0003259 biolink:NamedThing endoderm of midgut An endoderm that is part of a midgut [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl midgut endoderm EHDAA:987|RETIRED_EHDAA2:0001194|EMAPA:16257|VHOG:0001080 TODO - check uberon owl:Class HP:0002908 biolink:NamedThing Conjugated hyperbilirubinemia tmpxe7fu0cj_hp_relaxed.owl Direct hyperbilirubinemia SNOMEDCT_US:9326001|UMLS:C0268307 HP:0008351 human_phenotype owl:Class HP:0002904 biolink:NamedThing Hyperbilirubinemia An increased amount of bilirubin in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood bilirubin levels UMLS:C0311468|SNOMEDCT_US:26165005 owl:Class HP:0001433 biolink:NamedThing Hepatosplenomegaly Simultaneous enlargement of the liver and spleen. tmpxe7fu0cj_hp_relaxed.owl Enlarged liver and spleen UMLS:C0019214|SNOMEDCT_US:36760000 peter 2008-02-20T10:51:00Z owl:Class HP:0002240 biolink:NamedThing Hepatomegaly Abnormally increased size of the liver. tmpxe7fu0cj_hp_relaxed.owl Enlarged liver UMLS:C0019209|MSH:D006529|SNOMEDCT_US:80515008 HP:0001398|HP:0001393 owl:Class HP:0003593 biolink:NamedThing Infantile onset Onset of signs or symptoms of disease between 28 days to one year of life. tmpxe7fu0cj_hp_relaxed.owl Infantile onset|Onset in first year of life|Onset in infancy UMLS:C1848924 Onset of signs or symptoms of disease within the first 12 months of life. HP:0003600|HP:0003594|HP:0003591|HP:0003629|HP:0010573|HP:0003631|HP:0003667|HP:0003579|HP:0003576|HP:0003672|HP:0003599 human_phenotype owl:Class HP:0410280 biolink:NamedThing Pediatric onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. tmpxe7fu0cj_hp_relaxed.owl Paediatric onset|Onset before adulthood 2018-11-01 15:27:45+00:00 owl:Class CL:0000679 biolink:NamedThing glutamatergic neuron tmpxe7fu0cj_hp_relaxed.owl WBbt:0006829 cell owl:Class HP:0033948 biolink:NamedThing Arcuate artery intima/media arteriitis Inflammation of the inner or middle layer of the arcuate arteries of the kidney. tmpxe7fu0cj_hp_relaxed.owl Arteritis within arcuate arterial intima/media 2021-06-24 12:14:55+00:00 peter owl:Class HP:0003939 biolink:NamedThing Humeroulnar synostosis An abnormal osseous union (fusion) between the ulna and the humerus. tmpxe7fu0cj_hp_relaxed.owl Humeral ulnar synostosis SNOMEDCT_US:205330003|UMLS:C0431799 human_phenotype owl:Class HP:0100745 biolink:NamedThing Abnormality of the humeroulnar joint An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021980 doelkens 2011-06-06T06:25:05Z human_phenotype owl:Class HP:0033367 biolink:NamedThing Orthodeoxia Low level of blood oxygen induced by changing from a recumbent to an upright position. tmpxe7fu0cj_hp_relaxed.owl 2020-12-16 11:53:55+00:00 peter owl:Class HP:0033694 biolink:NamedThing Tactile hallucination The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object. tmpxe7fu0cj_hp_relaxed.owl Tactile hallucinations 2021-03-07 23:00:31+00:00 There are many different types of tactile hallucination. A common one is formication, the sensation like insects crawling over the skin (derived from the Latin word for ant, formica). peter owl:Class HP:0033232 biolink:NamedThing Abnormal glomerular mesangial matrix morphology Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. tmpxe7fu0cj_hp_relaxed.owl 2020-10-31 12:50:08+00:00 peter owl:Class HP:0001966 biolink:NamedThing Abnormal glomerular mesangium morphology An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. tmpxe7fu0cj_hp_relaxed.owl Abnormality glomerular mesangium morphology|Abnormality of the glomerular mesangium|Mesangial abnormality UMLS:C4025733 Mesangial cells constitute the central stalk of the glomerulus and are in continuity with the extraglomerular mesangium and the juxtaglomerular apparatus. They have contractile properties generated by anchoring filaments to glomerular basement membrane opposite podocyte foot processes and at the paramesangial angles, thereby assisting in the maintenance of capillary organization and convolution. On the capillary lumen side, mesangial cells are in direct contact with endothelial cells without an intervening basement membrane. owl:Class UBERON:0011645 biolink:NamedThing iliofemoralis muscle Limb extensor that runs from ilium to femur. tmpxe7fu0cj_hp_relaxed.owl iliofemoralis uberon owl:Class HP:0032109 biolink:NamedThing Moderately reduced contrast sensitivity A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss. tmpxe7fu0cj_hp_relaxed.owl Moderate reduction in contrast sensitivity 2018-11-17 14:18:29+00:00 peter owl:Class HP:0032036 biolink:NamedThing Reduced contrast sensitivity An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target. tmpxe7fu0cj_hp_relaxed.owl Abnormal contrast sensitivity 2018-09-01 15:21:51+00:00 peter owl:Class HP:0003477 biolink:NamedThing Peripheral axonal neuropathy An abnormality characterized by disruption of the normal functioning of peripheral axons. tmpxe7fu0cj_hp_relaxed.owl Axonal peripheral neuropathy|Axonal neuropathy UMLS:C0270921|SNOMEDCT_US:60703000|UMLS:C1263857|SNOMEDCT_US:128208007 This abnormality can be assay by electromyography (EMG) or by nerve biopsy. HP:0007169|HP:0006814|HP:0008304|HP:0006842 human_phenotype owl:Class GO:1904035 biolink:NamedThing regulation of epithelial cell apoptotic process Any process that modulates the frequency, rate or extent of epithelial cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of epithelial cell apoptosis|regulation of epitheliocyte apoptosis|regulation of epitheliocyte apoptotic process sl 2015-03-13T22:05:41Z biological_process owl:Class HP:0100051 biolink:NamedThing Pseudoepiphyses of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022370 doelkens 2010-06-24T09:58:18Z human_phenotype owl:Class CHEBI:88167 biolink:NamedThing N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide A glycotetraosylceramide having N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl component attached to the primary hydroxy function of a ceramide with undefined sphingoid base. tmpxe7fu0cj_hp_relaxed.owl beta-D-GalNAc-(1->3)-alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer|globoside Gb4Cer|beta-D-GalpNAc-(1->3)-alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp-(1<->1')-Cer 0 C30H50N2O23R2 806.719 806.28044 [C@H]([C@@H](*)O)(NC(=O)*)CO[C@@H]1O[C@@H]([C@@H](O[C@@H]2O[C@@H]([C@H](O[C@@H]3[C@@H]([C@@H](O[C@H]4[C@@H]([C@H]([C@@H](O)[C@H](O4)CO)O)NC(C)=O)[C@H]([C@@H](CO)O3)O)O)[C@@H]([C@H]2O)O)CO)[C@@H]([C@H]1O)O)CO chebi_ontology owl:Class CHEBI:23075 biolink:NamedThing glycotetraosylceramide An oligoglycosylceramide consisting of a glycotetraosyl moiety attached to the ceramide oxygen with an unspecified N-acyl substituent attached to the ceramide nitrogen. tmpxe7fu0cj_hp_relaxed.owl glycotetraosylceramides chebi_ontology owl:Class HP:0004554 biolink:NamedThing Generalized hypertrichosis Generalized excessive, abnormal hairiness. tmpxe7fu0cj_hp_relaxed.owl Generalised hypertrichosis UMLS:C3277940 HP:0004543|HP:0004766 human_phenotype owl:Class HP:0430014 biolink:NamedThing Abnormality of musculature of soft palate An abnormality of one or more of the five muscles of the soft palate. tmpxe7fu0cj_hp_relaxed.owl Abnormality of soft palate muscles UMLS:C4073196 owl:Class GO:0030851 biolink:NamedThing granulocyte differentiation The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. tmpxe7fu0cj_hp_relaxed.owl granulocyte cell differentiation biological_process owl:Class HP:0008588 biolink:NamedThing Slit-like opening of the exterior auditory meatus A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1846459 human_phenotype owl:Class HP:0000402 biolink:NamedThing Stenosis of the external auditory canal An abnormal narrowing of the external auditory canal. tmpxe7fu0cj_hp_relaxed.owl Narrow external auditory canals|External auditory canal stenosis|Narrow auditory canals|Narrow external auditory meatus|Narrow ear canal|Stenotic external auditory canal|Narrowing of passageway from outer ear to middle ear SNOMEDCT_US:300127002|UMLS:C0395837|UMLS:C0576860|SNOMEDCT_US:301061006 HP:0000373 human_phenotype owl:Class GO:0051931 biolink:NamedThing regulation of sensory perception Any process that modulates the frequency, rate or extent of sensory perception, the series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100062 biolink:NamedThing Pseudoepiphyses of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022359 doelkens 2010-06-24T09:58:55Z human_phenotype owl:Class HP:0012180 biolink:NamedThing Cystic medial necrosis A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells. tmpxe7fu0cj_hp_relaxed.owl Arterial cystic medial necrosis MSH:C536230|SNOMEDCT_US:42182000|UMLS:C0392775|SNOMEDCT_US:45894003|SNOMEDCT_US:234021009 The lesions of cystic medial necrosis are not true cysts. peter 2013-02-23T10:17:16Z HP:0200145 human_phenotype owl:Class GO:0030239 biolink:NamedThing myofibril assembly Formation of myofibrils, the repeating units of striated muscle. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0007763 biolink:NamedThing Retinal telangiectasia Dilatation of small blood vessels of the retina. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0154835|SNOMEDCT_US:84884003 human_phenotype owl:Class HP:0005941 biolink:NamedThing Intermittent hyperpnea at rest tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025098 human_phenotype owl:Class HP:0004879 biolink:NamedThing Intermittent hyperventilation Episodic hyperventilation. tmpxe7fu0cj_hp_relaxed.owl Episodic hyperventilation|Intermittent overbreathing UMLS:C1828017|SNOMEDCT_US:423427003 human_phenotype owl:Class UBERON:0003616 biolink:NamedThing bronchus elastic tissue An elastic tissue that is part of a bronchus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bronchi textus connectivus elasticus|bronchus textus connectivus elasticus|elastic connective tissue of bronchus|bronchial trunk elastic tissue|elastic tissue of bronchus|bronchi elastic tissue|elastic tissue of bronchi|bronchial trunk textus connectivus elasticus|textus connectivus elasticus of bronchial trunk|bronchi elastic connective tissue|textus connectivus elasticus of bronchus|textus connectivus elasticus of bronchi|elastic connective tissue of bronchi|elastic connective tissue of bronchial trunk|bronchus elastic connective tissue|bronchial trunk elastic connective tissue|elastic tissue of bronchial trunk NCIT:C49211|UMLS:C1707053|MA:0001838 uberon owl:Class UBERON:0001424 biolink:NamedThing ulna The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0041600|galen:Ulna|FMA:23466|EMAPA:19104|OpenCyc:Mx4rwPtIM5wpEbGdrcN5Y29ycA|MA:0001358|MESH:A02.835.232.087.911|AAO:0000789|VSAO:0005013|NCIT:C12809|GAID:188 The corresponding bone in the posterior fin/limb is the fibula. http://upload.wikimedia.org/wikipedia/commons/6/67/Illu_upper_extremity.jpg uberon owl:Class One of the two long bones of endochondral origin of the fore-epipodium; it is located on the medial (inner) side of the radius. The upper end of the ulna articulates with the lower end of the humerus forming a strong hinge joint with the carpals, whereas the lower articulates with the carpals.[AAO] ulnar GO:0055017 biolink:NamedThing cardiac muscle tissue growth The increase in size or mass of a cardiac muscle, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another. tmpxe7fu0cj_hp_relaxed.owl heart muscle growth biological_process owl:Class UBERON:0000047 biolink:NamedThing simple eye An eye with one concave chamber. Note that 'simple' does not imply a reduced level of complexity or acuity. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Eye#Simple_eyes|TGMA:0000729 uberon owl:Class GO:0090181 biolink:NamedThing regulation of cholesterol metabolic process Any process that modulates the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpxe7fu0cj_hp_relaxed.owl tb 2009-12-18T10:33:49Z biological_process owl:Class GO:0006081 biolink:NamedThing cellular aldehyde metabolic process The chemical reactions and pathways involving aldehydes, any organic compound with the formula R-CH=O, as carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl alkanal metabolism|alkanal metabolic process|aldehyde metabolism biological_process owl:Class GO:0045650 biolink:NamedThing negative regulation of macrophage differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage differentiation. tmpxe7fu0cj_hp_relaxed.owl downregulation of macrophage differentiation|down regulation of macrophage differentiation|down-regulation of macrophage differentiation|inhibition of macrophage differentiation biological_process owl:Class HP:0000346 biolink:NamedThing Whistling appearance An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling. tmpxe7fu0cj_hp_relaxed.owl Whistling appearance|Whistling facial appearance UMLS:C1848473 human_phenotype owl:Class CHEBI:33984 biolink:NamedThing fucose Any deoxygalactose that is deoxygenated at the 6-position. tmpxe7fu0cj_hp_relaxed.owl Fucose|fucose|6-Deoxygalactose|Fuc|6-deoxygalactose KEGG:C00382|PMID:12651883|CAS:7724-73-4 CHEBI:24118|CHEBI:5182 chebi_ontology owl:Class CHEBI:18133 biolink:NamedThing hexose Any six-carbon monosaccharide which in its linear form contains either an aldehyde group at position 1 (aldohexose) or a ketone group at position 2 (ketohexose). tmpxe7fu0cj_hp_relaxed.owl hexoses|WURCS=2.0/1,1,0/[axxxxh-1x_1-5_2*NCC/3=O]/1/|Hexose GlyTouCan:G70994MS|GlyGen:G70994MS|KEGG:C00738 CHEBI:5709|CHEBI:14399|CHEBI:24590 chebi_ontology owl:Class HP:0030964 biolink:NamedThing Abnormal aortic physiology tmpxe7fu0cj_hp_relaxed.owl 2017-04-18 13:14:14+00:00 robinp owl:Class UBERON:0002567 biolink:NamedThing basal part of pons Ventral subdivision of the pons which consists of the massive pontine pertuberance on pontine ventral surface. tmpxe7fu0cj_hp_relaxed.owl pars basilaris pontis|pons proper|basilar pons|basis pontis|ventral portion of pons|pars anterior pontis|base of pons|basilar part of pons|basal portion of pons|basal part of the pons|ventral pons|pars ventralis pontis FMA:72244|BIRNLEX:1043|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=616|BAMS:Bpons|DHBA:12405|HBA:9132|UMLS:C0228427 uberon owl:Class GO:0003341 biolink:NamedThing cilium movement The directed, self-propelled movement of a cilium. tmpxe7fu0cj_hp_relaxed.owl ciliary motility|cilium beating|microtubule-based flagellum movement|flagellar motility|flagellum movement|flagellar movement Note that we deem cilium and microtubule-based flagellum to be equivalent. dph 2009-11-24T09:56:26Z GO:0036142 biological_process owl:Class HP:0030488 biolink:NamedThing Abnormal central response of multifocal electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072978 owl:Class UBERON:0005808 biolink:NamedThing bone tissue of long bone A bone tissue that is part of a long bone. tmpxe7fu0cj_hp_relaxed.owl osseous tissue of long bone FMA:83117 uberon owl:Class GO:0043227 biolink:NamedThing membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl membrane-enclosed organelle NIF_Subcellular:sao414196390 cellular_component owl:Class HP:0100142 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022279 doelkens 2010-06-24T10:23:44Z human_phenotype owl:Class GO:0042130 biolink:NamedThing negative regulation of T cell proliferation Any process that stops, prevents or reduces the rate or extent of T cell proliferation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of T cell proliferation|down regulation of T cell proliferation|negative regulation of T lymphocyte proliferation|negative regulation of T-cell proliferation|negative regulation of T-lymphocyte proliferation|downregulation of T cell proliferation|inhibition of T cell proliferation biological_process owl:Class GO:0012506 biolink:NamedThing vesicle membrane The lipid bilayer surrounding any membrane-bounded vesicle in the cell. tmpxe7fu0cj_hp_relaxed.owl NIF_Subcellular:sao1153182838 cellular_component owl:Class CHEBI:16742 biolink:NamedThing orotic acid A pyrimidinemonocarboxylic acid that is uracil bearing a carboxy substituent at position C-6. tmpxe7fu0cj_hp_relaxed.owl Uracil-6-carboxylic acid|Orotic acid|OROTIC ACID|2,6-dioxo-1,2,3,6-tetrahydropyrimidine-4-carboxylic acid|Orotsaeure 0 C5H4N2O4 InChI=1S/C5H4N2O4/c8-3-1-2(4(9)10)6-5(11)7-3/h1H,(H,9,10)(H2,6,7,8,11) PXQPEWDEAKTCGB-UHFFFAOYSA-N 156.09630 156.01711 OC(=O)c1cc(=O)[nH]c(=O)[nH]1 Beilstein:383901|PMID:22707164|PMID:11059538|PMID:22307261|KEGG:C00295|Reaxys:383901|PMID:22285839|PDBeChem:ORO|KNApSAcK:C00019689|PMID:22371390|PMID:22863860|PMID:22770225|DrugBank:DB02262|PMID:22634191|Drug_Central:3402|Gmelin:101990|CAS:65-86-1|MetaCyc:OROTATE|Wikipedia:Orotic_acid|HMDB:HMDB0000226|PMID:22019295|PMID:7264771|KEGG:D00055 CHEBI:7787|CHEBI:44781|CHEBI:25720 chebi_ontology owl:Class GO:0010876 biolink:NamedThing lipid localization Any process in which a lipid is transported to, or maintained in, a specific location. tmpxe7fu0cj_hp_relaxed.owl lipid localisation biological_process owl:Class UBERON:0004227 biolink:NamedThing kidney pelvis smooth muscle The smooth muscle tissue surrounding the urothelium of the kidney pelvis. tmpxe7fu0cj_hp_relaxed.owl pelvic smooth muscle|renal pelvis smooth muscle|kidney pelvis smooth muscle|smooth muscle tissue of renal pelvis FMA:262022|EMAPA:28120|MA:0002631 uberon owl:Class UBERON:0003086 biolink:NamedThing caudal artery Extension of the dorsal aorta in the tail. tmpxe7fu0cj_hp_relaxed.owl CA AAO:0011023|TAO:0000011|ZFA:0000011|XAO:0000364|EFO:0003472|VHOG:0000123 uberon owl:Class Extension of the dorsal aorta in the tail. Kimmel et al, 1995.[TAO]|The posterior extension of the dorsal aorta to the tail region, which degenerates at metamorphosis.[AAO] UBERON:0003524 biolink:NamedThing tail blood vessel A blood vessel that is part of a tail [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl post-vent region blood vessel|blood vessel of post-vent region|blood vessel of tail MA:0000695|EMAPA:35848 uberon owl:Class GO:0110124 biolink:NamedThing positive regulation of myotube cell migration Any process that activates, maintains or increases the frequency, rate or extent of myotube cell migration. tmpxe7fu0cj_hp_relaxed.owl kmv 2018-08-22T21:09:38Z biological_process owl:Class MPATH:270 biolink:NamedThing adenoma A benign epithelial neoplasm in which the tumor cells may form glands or glandlike structures. In different instances this may remain a benign tumor or progress to malignancy. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class MPATH:267 biolink:NamedThing glandular tumor Neoplasms derived from glandular epithelial cells. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0012684 biolink:NamedThing Abnormal pineal volume An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022781 This feature is typically assessed by magnetic resonance tomography of the brain. peter 2014-03-22T01:08:48Z human_phenotype owl:Class GO:2000177 biolink:NamedThing regulation of neural precursor cell proliferation Any process that modulates the frequency, rate or extent of neural precursor cell proliferation. tmpxe7fu0cj_hp_relaxed.owl dph 2010-10-13T12:40:41Z biological_process owl:Class UBERON:0005493 biolink:NamedThing hyoid muscle One of a group of muscles used in mastication and swallowing. These muscles are attached to the hyoid bone, which is suspended in the neck and forms the base of the tongue and larynx. The muscles are divided into suprahyoid (superior) or infrahyoid (inferior) groups relative to the bone[WP, generalized]. tmpxe7fu0cj_hp_relaxed.owl hyoid muscles UMLS:C0448345|NCIT:C32753|TAO:0000521|EFO:0003536|ZFA:0000521|VHOG:0001494|EHDAA2:0000794 uberon owl:Class Although the zebrafish occupies a rather derived phylogenetic position within actinopterygians and even within teleosts, with respect to the mandibular, hyoid and hypobranchial muscles it seems justified to consider it an appropriate representative of these two groups. Among these muscles, the three with clear homologues in tetrapods and the further three identified in sarcopterygian fish are particularly appropriate for comparisons of results between the actinopterygian zebrafish and the sarcopterygians.[well established][VHOG] attachment sites may vary by species; for example, in orangutans, the posterior digastric does not attach to the hyoid, but we may still consider this a (supra)hyoid muscle. CHEBI:78433 biolink:NamedThing refrigerant A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure. tmpxe7fu0cj_hp_relaxed.owl refrigerants Wikipedia:Refrigerant chebi_ontology owl:Class CHEBI:33232 biolink:NamedThing application Intended use of the molecular entity or part thereof by humans. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0025300 biolink:NamedThing Malar rash An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose. tmpxe7fu0cj_hp_relaxed.owl Cheekbone rash|Butterfly rash 2016-12-20 11:59:38+00:00 This type of rash is seen in lupus erythematosus, but also in other diseases such as rosacea and seborrheic dermatitis. HPO:probinson owl:Class HP:0010950 biolink:NamedThing Abnormal fourth ventricle morphology An abnormality of the fourth ventricle. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the fourth ventricle UMLS:C4023630 The fourth ventricle is the cerebral ventricle that extends from the cerebral aqueduct to the obex, and is located within the pons and the upper part of the medulla oblongata. peter 2011-01-17T12:58:00Z owl:Class HP:0002118 biolink:NamedThing Abnormal cerebral ventricle morphology Any structural abnormality of the cerebral ventricles. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the cerebral ventricles UMLS:C4025724 owl:Class HP:0100462 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 4th toe Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in middle bone of the 4th toe UMLS:C4022065 human_phenotype owl:Class HP:0010199 biolink:NamedThing Patchy sclerosis of middle toe phalanx Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in middle toe bone|Patchy sclerosis of the middle phalanges of the toes UMLS:C4021319 doelkens 2009-05-29T01:53:35Z human_phenotype owl:Class GO:1904268 biolink:NamedThing positive regulation of Schwann cell chemotaxis Any process that activates or increases the frequency, rate or extent of Schwann cell chemotaxis. tmpxe7fu0cj_hp_relaxed.owl upregulation of Schwann cell chemotaxis|up regulation of Schwann cell chemotaxis|activation of Schwann cell chemotaxis|up-regulation of Schwann cell chemotaxis sl 2015-05-28T17:47:55Z biological_process owl:Class HP:0009216 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 4th finger A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the middle bone of the ring finger UMLS:C4024525 doelkens 2009-01-05T05:23:59Z human_phenotype owl:Class HP:0005033 biolink:NamedThing Distal ulnar hypoplasia Underdevelopment of the distal portion of the ulna. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic distal ulna|Distal shortening of ulna UMLS:C1833145 HP:0006474 human_phenotype owl:Class HP:0003022 biolink:NamedThing Hypoplasia of the ulna Underdevelopment of the ulna. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped ulna|Underdeveloped inner large forearm bone|Hypoplastic ulna|Short ulna|Short ulnae|Ulnar hypoplasia UMLS:C1860614|MSH:C538069|UMLS:C1862132 HP:0005842|HP:0002998|HP:0006444|HP:0006388 human_phenotype owl:Class GO:0030217 biolink:NamedThing T cell differentiation The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. tmpxe7fu0cj_hp_relaxed.owl T-cell differentiation|T lymphocyte differentiation|T cell development|T-lymphocyte differentiation Note that the term 'thymocyte differentiation' was merged into this term because thymocytes are T cells, and thus the term was essentially redundant. Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. GO:0042112|GO:0046652 biological_process owl:Class HP:0005486 biolink:NamedThing Small fontanelle A fontanelle that is small for age. tmpxe7fu0cj_hp_relaxed.owl Little fontanelle|Little cranial sutures|Small bregma sutures|Microfontanelle|Small cranial sutures|Small soft spot UMLS:C4072854|SNOMEDCT_US:276710001|UMLS:C0456133|UMLS:C4072855 human_phenotype owl:Class NCBITaxon:131221 biolink:NamedThing Streptophytina tmpxe7fu0cj_hp_relaxed.owl Charophyta/Embryophyta group|charophyte/embryophyte group GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:35493 biolink:NamedThing Streptophyta tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:27026 biolink:NamedThing toxin Poisonous substance produced by a biological organism such as a microbe, animal or plant. tmpxe7fu0cj_hp_relaxed.owl toxins|toxin Wikipedia:Toxin chebi_ontology owl:Class CHEBI:64909 biolink:NamedThing poison Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism. tmpxe7fu0cj_hp_relaxed.owl poisons|poisonous substances|poisonous agents|toxic agents|toxic substance|toxic agent|poisonous substance|toxic substances|poisonous agent Wikipedia:Poison chebi_ontology owl:Class UBERON:0006742 biolink:NamedThing canthus A canthus is a corner of the eye where the upper and lower eyelids meet. The bicanthal plane is the transversal plane linking both canthi and defines the upper boundary of the midface. tmpxe7fu0cj_hp_relaxed.owl canthorum|bicanthal plane|canthoplasty|angle of eye|palpebral commissure|bicanthal|canthus (anatomy)|canthi|canthus of eye FMA:59222|EMAPA:37457 http://upload.wikimedia.org/wikipedia/commons/a/a9/Gray892.png uberon owl:Class canthal HP:0007404 biolink:NamedThing Nonepidermolytic palmoplantar hyperkeratosis Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis. tmpxe7fu0cj_hp_relaxed.owl Nonepidermolytic palmoplantar keratoderma UMLS:C1833030|MSH:C563422 owl:Class UBERON:0007618 biolink:NamedThing synovial cavity of hip joint A synovial cavity of joint that is part of a hip joint. tmpxe7fu0cj_hp_relaxed.owl EMAPA:19021|FMA:9701 uberon owl:Class CL:0002145 biolink:NamedThing ciliated columnar cell of tracheobronchial tree A ciliated columnar cell found in the trachea and bronchus. Vary from low to tall columnar; possesses up to 300 cilia at its surface, interspersed with long irregular microvilli with the cilia varying in length from about 6um in the trachea to about 4um in the terminal bronchioles; driving force of the ciliary current in the bronchial tree. tmpxe7fu0cj_hp_relaxed.owl FMA:70542 tmeehan 2010-08-24T03:38:29Z cell owl:Class CL:0002202 biolink:NamedThing epithelial cell of tracheobronchial tree An epithelial cell of the tracheobronchial tree. tmpxe7fu0cj_hp_relaxed.owl FMA:66816 tmeehan 2010-09-02T02:09:14Z CL:1000407 cell owl:Class HP:0000625 biolink:NamedThing Eyelid coloboma A short discontinuity of the margin of the lower or upper eyelid. tmpxe7fu0cj_hp_relaxed.owl Eyelid coloboma|Notched eyelid|Cleft eyelid|Full thickness defect of the eyelid UMLS:C0521573|SNOMEDCT_US:95202004 The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral. human_phenotype owl:Class MPATH:34 biolink:NamedThing amyloid deposition Extracellular deposition of amyloid protein. tmpxe7fu0cj_hp_relaxed.owl Amyloidosis Any group of chemically diverse proteins that appears microscopically homogeneous, but is composed of linear non-branching aggregated fibrils aranged in sheets when see under the electron microscope. mouse_pathology.ontology owl:Class HP:0004594 biolink:NamedThing Hump-shaped mound of bone in central and posterior portions of vertebral endplate tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839252 human_phenotype owl:Class HP:0003301 biolink:NamedThing Irregular vertebral endplates An irregular surface of the vertebral end plates, which are normally relatively smooth. tmpxe7fu0cj_hp_relaxed.owl endplate irregularity|endplate irregularities|end-plate irregularities|irregular vertebral plates|vertebral endplate irregularity|Irregular end plates|Irregular endplates UMLS:C1842153 HP:0004628|HP:0004583|HP:0003420 human_phenotype owl:Class HP:0012310 biolink:NamedThing Abnormal monocyte count An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal monocyte number SNOMEDCT_US:165540007|SNOMEDCT_US:165541006|UMLS:C0580319 peter 2013-08-10T12:07:14Z human_phenotype owl:Class HP:0012144 biolink:NamedThing Abnormal monocyte morphology Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023025 peter 2012-09-16T08:21:37Z owl:Class GO:0003354 biolink:NamedThing negative regulation of cilium movement Any process that decreases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. tmpxe7fu0cj_hp_relaxed.owl negative regulation of microtubule-based flagellum movement|negative regulation of flagellum movement Note that we deem cilium and microtubule-based flagellum to be equivalent. dph 2009-12-03T10:17:47Z GO:1900173 biological_process owl:Class GO:0003352 biolink:NamedThing regulation of cilium movement Any process that modulates the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. tmpxe7fu0cj_hp_relaxed.owl regulation of flagellum movement|regulation of microtubule-based flagellum movement|regulation of flagellar movement Note that we deem cilium and microtubule-based flagellum to be equivalent. dph 2009-12-03T10:12:00Z GO:1900172 biological_process owl:Class HP:0000980 biolink:NamedThing Pallor Abnormally pale skin. tmpxe7fu0cj_hp_relaxed.owl Skin paleness|Paleness MSH:D010167|SNOMEDCT_US:398979000|UMLS:C0030232 human_phenotype owl:Class HP:0025360 biolink:NamedThing Polycalycosis Increased number of calices of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2017-02-17 12:17:58+00:00 HPO:probinson owl:Class HP:0011130 biolink:NamedThing Abnormal renal calyx morphology Any abnormality of the morphology of the major calices or minor calices of the kidney. tmpxe7fu0cj_hp_relaxed.owl Abnormality of renal calyx morphology UMLS:C4023522 peter 2011-06-19T10:06:45Z human_phenotype owl:Class GO:0043029 biolink:NamedThing T cell homeostasis The process of regulating the proliferation and elimination of T cells such that the total number of T cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. tmpxe7fu0cj_hp_relaxed.owl T-cell homeostasis|T lymphocyte homeostasis|T-lymphocyte homeostasis Note that this term represents the return of T cell levels to stable numbers following an immune response as well as the proliferation and elimination of T cells required to maintain stable numbers in the absence of an outside stimulus. biological_process owl:Class GO:0002260 biolink:NamedThing lymphocyte homeostasis The process of regulating the proliferation and elimination of lymphocytes such that the total number of lymphocytes within a whole or part of an organism is stable over time in the absence of an outside stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0045992 biolink:NamedThing negative regulation of embryonic development Any process that stops, prevents, or reduces the frequency, rate or extent of embryonic development. tmpxe7fu0cj_hp_relaxed.owl downregulation of embryonic development|down-regulation of embryonic development|down regulation of embryonic development|inhibition of embryonic development biological_process owl:Class GO:0045995 biolink:NamedThing regulation of embryonic development Any process that modulates the frequency, rate or extent of embryonic development. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0050974 biolink:NamedThing detection of mechanical stimulus involved in sensory perception tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0050982 biolink:NamedThing detection of mechanical stimulus tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0010162 biolink:NamedThing post-anal tail tip The distal end of the tail. tmpxe7fu0cj_hp_relaxed.owl tail tip|end of tail XAO:0004057|MA:0002848|EMAPA:37760 uberon owl:Class CHEBI:78840 biolink:NamedThing olefinic compound Any organic molecular entity that contains at least one C=C bond. tmpxe7fu0cj_hp_relaxed.owl olefinic compounds chebi_ontology owl:Class HP:0009515 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Cone-shaped epiphyses of middle phalanx of index finger|Cone-shaped end part of the middle long bone of the index finger UMLS:C4021458 doelkens 2009-01-16T01:12:17Z HP:0004137 human_phenotype owl:Class HP:0009490 biolink:NamedThing Cone-shaped epiphyses of the 2nd finger A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the index finger UMLS:C4024335 doelkens 2009-01-16T01:07:16Z human_phenotype owl:Class UBERON:0001043 biolink:NamedThing esophagus Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993). tmpxe7fu0cj_hp_relaxed.owl oesophagus|gullet FMA:7131|XAO:0000127|EFO:0000835|MAT:0000048|MESH:A03.365|AAO:0000145|MIAA:0000048|EHDAA:2937|SCTID:181245004|MA:0000352|GAID:291|CALOHA:TS-0700|ANISEED:1235301|Wikipedia:Esophagus|NCIT:C12389|UMLS:C0014876|EMAPA:16833|BTO:0000959|EV:0100069|galen:Esophagus|OpenCyc:Mx4rvVj9Q5wpEbGdrcN5Y29ycA|EHDAA2:0001285|ZFA:0000204|VHOG:0000450|TAO:0000204 http://upload.wikimedia.org/wikipedia/commons/d/d4/Illu01_head_neck.jpg uberon owl:Class Anterior end of the alimentary canal lined with smooth muscle. Bounded anteriorly by a constriction in the pharynx. Bounded posteriorly by and increase in circular and/or longitudinal smooth muscle associated with the stomach.[AAO] The few structural specializations in (adult lampreys) pharynx include complex valves on the external gill openings that direct the tidal flow, and the division of the ancestral pharynx into an oesophagus and a respiratory pharynx.[well established][VHOG] esophageal esophagus NOT part of gut in MA. part of gut in ZFA. part_of gut (via UGIT) in FMA. Consider splitting. Interspecies: The human oesophagus is 25 cm long and has a diameter of ca. 2 cm. Only little information was found on the oesophagus in rat, rabbit and pig. The oesophagus of rat (75 x 2 mm) and rabbit has no mucous glands and the cardia of the stomach has a well-developed sphincter, which prevents them from vomiting (Hebel and Stromberg, 1988; Manning et al., 1994). Morphologically the oesophagus is similar in man and pig; both are omnivores and have a non-keratinised epithelium, submucous glands and similar membrane enzymes. Like in humans, pigs can suffer from reflux oesophagitis and stress ulceration of the oesophagus. The pig oesophagus may therefore be a good model for investigation compared to the human oesophagus (Christie et al., 1995) UBERON:0010262 biolink:NamedThing operculum of brain The most posterior portion of the inferior frontal gyrus of the frontal lobe in the brain. In an axial plane, the Sylvian fissure extends from the operculum posteriorly to divide the frontal from the temporal lobe. Broca's area is a notable part of the operculum, which plays a key role in conversation or speech production, reading and writing. Its vascular supply comes from the M3 branches of the middle cerebral artery[WP]. tmpxe7fu0cj_hp_relaxed.owl operculum http://upload.wikimedia.org/wikipedia/commons/b/b3/Operculum.png uberon owl:Class GO:0001773 biolink:NamedThing myeloid dendritic cell activation The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0033062 biolink:NamedThing Abnormal factor IX activity Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0010989 biolink:NamedThing Abnormality of the intrinsic pathway An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023610 The intrinsic pathway requires coagulation factors VIII, IX, X, XI, and XII, as well as the proteins prekallikrein (PK) and high-molecular-weight kininogen (HK or HMWK), in addition to calcium ions and phospholipids secreted from platelets. peter 2011-02-08T04:26:55Z human_phenotype owl:Class UBERON:0002097 biolink:NamedThing skin of body The organ covering the body that consists of the dermis and epidermis. tmpxe7fu0cj_hp_relaxed.owl entire skin|integument|pelt|entire integument|skin|skin organ|integumental organ Wikipedia:Skin|EMAPA:17525|NCIT:C12470|OpenCyc:Mx4rvVjX3ZwpEbGdrcN5Y29ycA|EFO:0000962|CALOHA:TS-0934|MESH:D012867|EHDAA2:0001844|galen:Skin|MFMO:0000099|FMA:7163|UMLS:C1123023|XAO:0000023|BTO:0001253|SCTID:181469002 consider 'integumentary system' for invertebrates http://upload.wikimedia.org/wikipedia/commons/6/6d/Skin.svg uberon owl:Class MA uses the term skin to refer to what is called here: zone of skin GO:0046622 biolink:NamedThing positive regulation of organ growth Any process that activates or increases the frequency, rate or extent of growth of an organ of an organism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0004050 biolink:NamedThing Absent hand The total absence of the hand, with no bony elements distal to the radius or ulna. tmpxe7fu0cj_hp_relaxed.owl Absent hand|Acheiria SNOMEDCT_US:371199008|UMLS:C0265594 human_phenotype owl:Class HP:0005927 biolink:NamedThing Aplasia/hypoplasia involving bones of the hand Absence (due to failure to form) or underdevelopment of the bones of the hand. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped hand bones|Absent/small hand bones|Hypoplasia/absence of hand bones UMLS:C4021612 peter 2008-03-27T02:29:00Z human_phenotype owl:Class UBERON:0035116 biolink:NamedThing diastema between upper central incisors A space or gap between the left and right central incisors on the upper jaw. tmpxe7fu0cj_hp_relaxed.owl midline maxillary diastema|interdental space, upper central incisors|interdental space between maxillary central incisors uberon owl:Class UBERON:0035115 biolink:NamedThing diastema between central incisors A space or gap between the left and right central incisors, on either the upper or lower jaw. tmpxe7fu0cj_hp_relaxed.owl midline diastema|interdental space, central incisors uberon owl:Class HP:0011764 biolink:NamedThing Pituitary spindle cell oncocytoma A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023200 peter 2012-04-22T03:57:01Z human_phenotype owl:Class HP:0011750 biolink:NamedThing Neoplasm of the anterior pituitary A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. tmpxe7fu0cj_hp_relaxed.owl Neoplasm of the pars anterior|Neoplasm of the adenohypophysis NCIT:C3262|UMLS:C4023205 peter 2012-04-22T01:18:46Z human_phenotype owl:Class HP:0004250 biolink:NamedThing Proximally placed lunate tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025391 human_phenotype owl:Class GO:0031948 biolink:NamedThing positive regulation of glucocorticoid biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0090031 biolink:NamedThing positive regulation of steroid hormone biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0071874 biolink:NamedThing cellular response to norepinephrine stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a norepinephrine stimulus. Norepinephrine is a catecholamine that has the formula C8H11NO3; it acts as a hormone, and as a neurotransmitter in most of the sympathetic nervous system. tmpxe7fu0cj_hp_relaxed.owl cellular response to noradrenaline stimulus Note that epinephrine and norepinephrine are ligands for the same receptors, and there are multiple adrenergic receptors. mah 2010-09-13T03:33:32Z biological_process owl:Class HP:0007327 biolink:NamedThing Mixed demyelinating and axonal polyneuropathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024907 human_phenotype owl:Class HP:0410208 biolink:NamedThing Positive plasma/serum cotinine test Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum. tmpxe7fu0cj_hp_relaxed.owl 2018-09-11 23:57:25+00:00 Cotinine is used as a biomarker for exposure to tobacco smoke. owl:Class HP:0500100 biolink:NamedThing Plasma/serum xenobiotic Presence of a xenobiotic in plasma and/or serum. tmpxe7fu0cj_hp_relaxed.owl 2018-05-21 13:45:51+00:00 owl:Class HP:0011639 biolink:NamedThing Anomalous origin of right coronary artery from the pulmonary artery Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3472165|SNOMEDCT_US:450300002 peter 2012-04-09T08:41:05Z human_phenotype owl:Class HP:0011637 biolink:NamedThing Anomalous origin of coronary artery from the pulmonary artery A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023252 peter 2012-04-09T08:33:57Z human_phenotype owl:Class GO:1905633 biolink:NamedThing establishment of protein localization to euchromatin The directed movement of a protein to a specific location in an euchromatin. tmpxe7fu0cj_hp_relaxed.owl establishment of protein localization in euchromatin|establishment of protein localisation in euchromatin|establishment of protein localisation to euchromatin pga 2016-11-01T16:16:22Z biological_process owl:Class HP:0007665 biolink:NamedThing Curly eyelashes Abnormally curly or curved eyelashes. tmpxe7fu0cj_hp_relaxed.owl Curly eyelashes UMLS:C2673670 human_phenotype owl:Class HP:0009237 biolink:NamedThing Short 5th finger Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic phalanges of the little finger|Fifth finger brachydactyly|Hypoplastic/small 5th finger|Short phalanges of the little finger|Short 5th finger|Short pinky finger|Hypoplastic/small little finger|Short fifth finger|Short pinkie finger|Short fifth fingers|Short little finger UMLS:C1842878 doelkens 2009-01-05T06:54:07Z HP:0001205|HP:0004217|HP:0005888|HP:0004215|HP:0005804|HP:0004211|HP:0004210|HP:0004208 human_phenotype owl:Class GO:0051954 biolink:NamedThing positive regulation of amine transport Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl up regulation of amine transport|up-regulation of amine transport|activation of amine transport|upregulation of amine transport|stimulation of amine transport biological_process owl:Class HP:0005456 biolink:NamedThing Absent ethmoidal sinuses Lack (aplasia) of the ethmoidal sinus. tmpxe7fu0cj_hp_relaxed.owl Missing ethmoid sinuses|Failure of development of ethmoid sinuses|Agenesis of ethmoid sinuses UMLS:C4025194 human_phenotype owl:Class HP:3000040 biolink:NamedThing Abnormality of ethmoid sinus An abnormality of an ethmoid sinus. tmpxe7fu0cj_hp_relaxed.owl Abnormality of ethmoidal air cells UMLS:C4073248 vasilevs 2015-08-07T00:36:19Z human_phenotype owl:Class HP:0012172 biolink:NamedThing Stereotypical body rocking Habitual repetitive movement of the body. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023013 peter 2013-02-20T10:17:35Z human_phenotype owl:Class UBERON:0018607 biolink:NamedThing permanent molar tooth 2 tmpxe7fu0cj_hp_relaxed.owl permanent second molar tooth|second permanent molar|secondary second molar tooth|second permanent molar tooth uberon owl:Class GO:0002730 biolink:NamedThing regulation of dendritic cell cytokine production Any process that modulates the frequency, rate, or extent of dendritic cell cytokine production. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0020045 biolink:NamedThing Esodeviation A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. tmpxe7fu0cj_hp_relaxed.owl Convergent squint|Convergent strabismus 2017-12-20 17:20:06+00:00 robinp owl:Class HP:0033663 biolink:NamedThing Air trapping Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse. tmpxe7fu0cj_hp_relaxed.owl 2021-02-27 14:37:46+00:00 Differentiation from areas of decreased attenuation resulting from hypoperfusion as a consequence of an occlusive vascular disorder (eg, chronic thromboembolism) may be problematic, but other findings of airways versus vascular disease are usually present. See Figure 4 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0007586 biolink:NamedThing Telangiectases producing 'marbled' skin tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024839 human_phenotype owl:Class HP:0100585 biolink:NamedThing Telangiectasia of the skin Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. tmpxe7fu0cj_hp_relaxed.owl Teleangiectasia of the skin UMLS:C4022018 doelkens 2010-12-27T03:06:35Z human_phenotype owl:Class GO:0070527 biolink:NamedThing platelet aggregation The adhesion of one platelet to one or more other platelets via adhesion molecules. tmpxe7fu0cj_hp_relaxed.owl thrombocyte aggregation|blood platelet aggregation biological_process owl:Class GO:0034109 biolink:NamedThing homotypic cell-cell adhesion The attachment of a cell to a second cell of the identical type via adhesion molecules. tmpxe7fu0cj_hp_relaxed.owl Note that this term is not synonymous with 'homophilic cell adhesion ; GO:0007156'; the process may occur by homophilic or heterophilic mechanisms. biological_process owl:Class HP:0004529 biolink:NamedThing Atrophic, patchy alopecia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025314 human_phenotype owl:Class GO:1900073 biolink:NamedThing regulation of neuromuscular synaptic transmission Any process that modulates the frequency, rate or extent of neuromuscular synaptic transmission. tmpxe7fu0cj_hp_relaxed.owl kmv 2012-01-26T10:14:10Z biological_process owl:Class HP:0004387 biolink:NamedThing Enterocolitis An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine). tmpxe7fu0cj_hp_relaxed.owl UMLS:C0014356|MSH:D004760|SNOMEDCT_US:43752006 peter 2008-03-18T09:02:00Z human_phenotype owl:Class HP:0002583 biolink:NamedThing Colitis Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. tmpxe7fu0cj_hp_relaxed.owl MSH:D003092|SNOMEDCT_US:64226004|UMLS:C0009319 owl:Class HP:0010122 biolink:NamedThing Stippling of the epiphyses of the hallux The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the big toe bone UMLS:C4024037 doelkens 2009-05-29T01:16:38Z owl:Class HP:0010171 biolink:NamedThing Epiphyseal stippling of toe phalanges The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in long toe bones|Stippling of the epiphyses of the toes UMLS:C4021332 doelkens 2009-05-29T01:34:06Z human_phenotype owl:Class GO:0010912 biolink:NamedThing positive regulation of isomerase activity Any process that increases the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0006563 biolink:NamedThing Malformation of the hepatic ductal plate tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857519 human_phenotype owl:Class HP:0034077 biolink:NamedThing Anti-complement component C1q antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q. tmpxe7fu0cj_hp_relaxed.owl Anti-C1q antibody positivity 2021-12-19 02:21:55+00:00 peter owl:Class CHEBI:58048 biolink:NamedThing L-asparagine zwitterion Zwitterionic form of L-asparagine arising from transfer of a proton from the carboxy to the amino group; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl (2S)-4-amino-2-azaniumyl-4-oxobutanoate|(2S)-4-amino-2-ammonio-4-oxobutanoate|(2S)-2-azaniumyl-3-carbamoylpropanoate|L-asparagine|(2S)-2-ammonio-3-carbamoylpropanoate 0 C4H8N2O3 InChI=1S/C4H8N2O3/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H2,6,7)(H,8,9)/t2-/m0/s1 DCXYFEDJOCDNAF-REOHCLBHSA-N 132.11790 132.05349 NC(=O)C[C@H]([NH3+])C([O-])=O MetaCyc:ASN chebi_ontology owl:Class GO:0022613 biolink:NamedThing ribonucleoprotein complex biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. tmpxe7fu0cj_hp_relaxed.owl RNA-protein complex biogenesis|ribonucleoprotein complex biogenesis and assembly biological_process owl:Class GO:0044085 biolink:NamedThing cellular component biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. tmpxe7fu0cj_hp_relaxed.owl cellular component biogenesis at cellular level GO:0071843 biological_process owl:Class HP:0032901 biolink:NamedThing Focal pedal automatism seizure A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. tmpxe7fu0cj_hp_relaxed.owl These may include pacing, walking, or running. peter owl:Class HP:0032259 biolink:NamedThing Chronic tinea infection The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 18:30:04+00:00 Tinea is usually followed by a Latin term that designates the involved site, such as tinea corporis and tinea pedis. Tinea versicolor (now called pityriasis versicolor) is not caused by dermatophytes but rather by yeasts of the genus Malassezia. Tinea unguium is more commonly known as onychomycosis. Dermatophytes are usually limited to involvement of hair, nails, and stratum corneum, which are inhospitable to other infectious agents. Dermatophytes include three genera: Trichophyton, Microsporum, and Epidermophyton. peter owl:Class HP:0031035 biolink:NamedThing Chronic infection Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection. tmpxe7fu0cj_hp_relaxed.owl 2017-06-14 16:40:44+00:00 robinp owl:Class HP:0002837 biolink:NamedThing Recurrent bronchitis An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. tmpxe7fu0cj_hp_relaxed.owl Bronchitis, recurrent UMLS:C0741796 HP:0002785 owl:Class HP:0030231 biolink:NamedThing Glycogen accumulation in muscle fiber lysosomes An increased amount of glycogen in muscle tissue found specifically in lysosomes. tmpxe7fu0cj_hp_relaxed.owl Glycogen accumulation in muscle fibre lysosomes UMLS:C4022567 owl:Class HP:0009051 biolink:NamedThing Increased muscle glycogen content An increased amount of glycogen in muscle tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968729 human_phenotype owl:Class PR:000003777 biolink:NamedThing adiponectin A protein that is a translation product of the human ADIPOQ gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl adipose most abundant gene transcript 1 protein|GBP28|adipocyte complement-related 30 kDa protein|30 kDa adipocyte complement-related protein|APM1|ACRP30|ACDC|adipocyte-specific protein AdipoQ|gelatin-binding protein|adipocyte, C1q and collagen domain-containing protein|apM-1|ADIPOQ Category=gene. protein owl:Class HP:0001586 biolink:NamedThing Vesicovaginal fistula The presence of a fistula connecting the urinary bladder to the vagina. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0042582|MSH:D014719|SNOMEDCT_US:89405008 human_phenotype owl:Class HP:0033242 biolink:NamedThing Horseshoe lung A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac. tmpxe7fu0cj_hp_relaxed.owl 2020-11-24 11:39:51+00:00 peter owl:Class HP:0002101 biolink:NamedThing Abnormal lung lobation A developmental defect in the formation of pulmonary lobes. tmpxe7fu0cj_hp_relaxed.owl Defective lung lobation|Lung segmentation defects SNOMEDCT_US:91842005|UMLS:C0685695 HP:0006525|HP:0009753 owl:Class HP:0100037 biolink:NamedThing Abnormality of the scalp hair An abnormality of the hair of head. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the scalp hair UMLS:C4022384 doelkens 2010-06-22T05:29:31Z owl:Class HP:0001965 biolink:NamedThing Abnormal scalp morphology Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. tmpxe7fu0cj_hp_relaxed.owl Anomaly of scalp|Abnormality of the scalp UMLS:C4025734 The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones. owl:Class CL:0000223 biolink:NamedThing endodermal cell A cell of the inner of the three germ layers of the embryo. tmpxe7fu0cj_hp_relaxed.owl endoderm cell FMA:72555 cell owl:Class CL:0002321 biolink:NamedThing embryonic cell (metazoa) A cell of the embryo. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-0263|FMA:82841|FMA:82840|WBbt:0007028 tmeehan 2010-09-15T03:39:21Z cell owl:Class GO:0016903 biolink:NamedThing oxidoreductase activity, acting on the aldehyde or oxo group of donors Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpxe7fu0cj_hp_relaxed.owl oxidoreductase activity, acting on the aldehyde or oxo group of donors, other acceptors EC:1.2.-.- molecular_function owl:Class GO:0016491 biolink:NamedThing oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. tmpxe7fu0cj_hp_relaxed.owl oxidoreductase activity, acting on other substrates|redox activity Reactome:R-HSA-390438|Reactome:R-HSA-8878581|Reactome:R-HSA-9020260|Reactome:R-HSA-9024624|Reactome:R-HSA-9020249|Reactome:R-HSA-9693722|Reactome:R-HSA-9025007|Reactome:R-HSA-209921|Reactome:R-HSA-209960|Reactome:R-HSA-390425|Reactome:R-HSA-9024630|Reactome:R-HSA-5662660|EC:1.-.-.-|Reactome:R-HSA-9027033|Reactome:R-HSA-8936442|Reactome:R-HSA-9026917|Reactome:R-HSA-1614362|Reactome:R-HSA-9026001|Reactome:R-HSA-3095889 molecular_function owl:Class UBERON:0036253 biolink:NamedThing orifice of skull tmpxe7fu0cj_hp_relaxed.owl skull orifice|cranial orifice FMA:53133 uberon owl:Class GO:0043534 biolink:NamedThing blood vessel endothelial cell migration The orderly movement of an endothelial cell into the extracellular matrix in order to form new blood vessels during angiogenesis. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:2000547 biolink:NamedThing regulation of dendritic cell dendrite assembly Any process that modulates the frequency, rate or extent of dendritic cell dendrite assembly. tmpxe7fu0cj_hp_relaxed.owl regulation of dendritic extension ebc 2011-04-03T07:21:55Z biological_process owl:Class HP:0005868 biolink:NamedThing Metaphyseal enchondromatosis An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025121 human_phenotype owl:Class HP:0001799 biolink:NamedThing Short nail Decreased length of nail. tmpxe7fu0cj_hp_relaxed.owl Short nails|Short nail SNOMEDCT_US:247488004|UMLS:C0423808 Use this designation when the length is reduced but the width is normal. HP:0200075 human_phenotype owl:Class HP:0008386 biolink:NamedThing Aplasia/Hypoplasia of the nails Aplasia or developmental hypoplasia of the nail. tmpxe7fu0cj_hp_relaxed.owl Absent/hypoplastic nails|Absent/underdeveloped nails|Nail aplasia/hypoplasia|Absent/small nails UMLS:C1859077 HP:0008385 owl:Class HP:0010771 biolink:NamedThing Pilonidal abscess A hair-containing cyst or sinus usually in the coccygeal region. tmpxe7fu0cj_hp_relaxed.owl Sacrococcygeal fistula UMLS:C3537055|SNOMEDCT_US:85224001 sdoelken 2010-04-29T09:55:15Z human_phenotype owl:Class HP:0031292 biolink:NamedThing Cutaneous abscess A circumscribed area of pus or necrotic debris in the skin. tmpxe7fu0cj_hp_relaxed.owl Skin abscess 2017-08-13 21:21:54+00:00 peter owl:Class UBERON:0006255 biolink:NamedThing ischial pre-cartilage condensation An ischial endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl VHOG:0000962|EMAPA:18348|EHDAA:7153|EHDAA2:0000891 uberon owl:Class CL:0000723 biolink:NamedThing somatic stem cell A stem cell that can give rise to cell types of the body other than those of the germ-line. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-2086|FMA:63368 cell owl:Class CL:0000034 biolink:NamedThing stem cell A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. tmpxe7fu0cj_hp_relaxed.owl animal stem cell CALOHA:TS-2086|FMA:63368 This term applies to metazoan. For plant stem cells, consider using PO:0004011 ‘initial cell’ or its parent PO:0004010 ‘meristematic cell’. cell owl:Class PR:P01270 biolink:NamedThing parathyroid hormone (human) A parathyroid hormone that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl hPTH|parathyrin (human)|PTH|parathormone (human) UniProtKB:P01270 Category=organism-gene. protein owl:Class PR:000013429 biolink:NamedThing parathyroid hormone A protein that is a translation product of the human PTH gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl parathormone|parathyrin|PTH Category=gene. protein owl:Class HP:0031245 biolink:NamedThing Productive cough A cough that produces phlegm or mucus. tmpxe7fu0cj_hp_relaxed.owl Wet cough|Cough with mucus production 2017-08-12 13:19:10+00:00 peter owl:Class HP:0020210 biolink:NamedThing Praxis-induced seizure A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making. tmpxe7fu0cj_hp_relaxed.owl robinp 2020-02-24 13:41:45+00:00 owl:Class HP:0032853 biolink:NamedThing Focal impaired awareness sensory seizure with hot-cold sensations A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0099568 biolink:NamedThing cytoplasmic region Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class UBERON:2005260 biolink:NamedThing fenestrated capillary Capillary that has pores in the endothelial cells (60-80 nm in diameter) that are spanned by a diaphragm of radially oriented fibrils and allow small molecules and limited amounts of protein to diffuse. tmpxe7fu0cj_hp_relaxed.owl fenestrated capillary vessel|fenestrated blood vessel endothelium Wikipedia:Capillary#Types|TAO:0005260|UMLS:C1179615|ZFA:0005260|NCIT:C32595|FMA:63196 the ZFA class from which this was derived is not explicitly classified as a capillary - need to verify for taxon histology differences uberon owl:Class Blood vessel endothelium that has pores that allow passage small molecules and proteins[ZFA]. UBERON:0015049 biolink:NamedThing carpus endochondral element A carpus bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl carpus skeletal element|carpus element uberon owl:Class CHEBI:17933 biolink:NamedThing calcidiol A hydroxycalciol that is calciol in which the hydrogen at position 25 has been replaced by a hydroxy group. A prehormone resulting from the oxidation of calciol in the liver, it is further hydroxylated in the kidney to give calcitriol, the active form of vitamin D3. tmpxe7fu0cj_hp_relaxed.owl calcifediol|(3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-3,25-diol|Calcifediol anhydrous|25-Hydroxyvitamin D3|Calcifediol|(3S,5Z,7E)-9,10-secocholesta-5,7,10-triene-3,25-diol|Calcidiol|25(OH)D3|3-{2-[1-(5-HYDROXY-1,5-DIMETHYL-HEXYL)-7A-METHYL-OCTAHYDRO-INDEN-4-YLIDENE]-ETHYLIDENE}-4-METHYLENE-CYCLOHEXANOL|Rayaldee|calcidiol|25-hydroxycholecalciferol|(5Z,7E)-(3S)-9,10-secocholesta-5,7,10(19)-triene-3,25-diol|(3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-3,25-diol|25-hydroxyvitamin D3|calcifediolum 0 C27H44O2 InChI=1S/C27H44O2/c1-19-10-13-23(28)18-22(19)12-11-21-9-7-17-27(5)24(14-15-25(21)27)20(2)8-6-16-26(3,4)29/h11-12,20,23-25,28-29H,1,6-10,13-18H2,2-5H3/b21-11+,22-12-/t20-,23+,24-,25+,27-/m1/s1 JWUBBDSIWDLEOM-DTOXIADCSA-N 400.63706 400.33413 [H][C@@]1(CC[C@]2([H])[C@]1(C)CCC\C2=C/C=C1/C[C@@H](O)CCC1=C)[C@H](C)CCCC(C)(C)O CAS:19356-17-3|PMID:16549446|DrugBank:DB00146|Reaxys:4270041|LIPID_MAPS_instance:LMST03020246|KEGG:C01561|PMID:23566108|PMID:9080330|PMID:22487892|Drug_Central:464|PDBeChem:VDY|PMID:18689406|Beilstein:4270041|PMID:22536761|PMID:23090338|Wikipedia:Calcifediol CHEBI:3304|CHEBI:19815|CHEBI:46387|CHEBI:13931 chebi_ontology owl:Class CHEBI:73558 biolink:NamedThing D3 vitamins A vitamin D that is calciol or its hydroxylated metabolites calcidiol and calcitriol. Calciol (also known as vitamin D3) acts as a hormone precursor, being hydroxylated in the liver to calcidiol (25-hydroxyvitamin D3), which is then further hydroxylated in the kidney to give calcitriol (1,25-dihydroxyvitamin D3), the active hormone. tmpxe7fu0cj_hp_relaxed.owl D3 vitamin|vitamin D3s chebi_ontology owl:Class HP:0006572 biolink:NamedThing Subacute progressive viral hepatitis tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861901 human_phenotype owl:Class HP:0033796 biolink:NamedThing Abnormal leukocyte physiology A functional abnormality of a white blood cell. tmpxe7fu0cj_hp_relaxed.owl 2021-05-08 13:50:44+00:00 peter owl:Class HP:0031462 biolink:NamedThing Musculotendinous retraction Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 16:13:40+00:00 peter owl:Class HP:0025694 biolink:NamedThing Pituitary microadenoma A pituitary adenoma that is less than 10 mm in diameter. tmpxe7fu0cj_hp_relaxed.owl Pituitary microadenoma is usually an incidental finding on brain MRI. Patients are asymptomatic unless the tumor is hormonally active. peterrobinson owl:Class HP:0100936 biolink:NamedThing Sclerosis of the middle phalanx of the 3rd toe An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the middle bone of the 3rd toe UMLS:C4021922 human_phenotype owl:Class HP:0100947 biolink:NamedThing Sclerosis of middle toe phalanx An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in middle toe bone|Sclerosis of the middle phalanges of the toes UMLS:C4020924 human_phenotype owl:Class HP:0002108 biolink:NamedThing Spontaneous pneumothorax Pneumothorax occurring without traumatic injury to the chest or lung. tmpxe7fu0cj_hp_relaxed.owl Spontaneous collapsed lung SNOMEDCT_US:80423007|UMLS:C0149781|MSH:D011030 human_phenotype owl:Class HP:0002107 biolink:NamedThing Pneumothorax Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. tmpxe7fu0cj_hp_relaxed.owl Collapsed lung MSH:D011030|UMLS:C0032326|SNOMEDCT_US:36118008 human_phenotype owl:Class GO:0001912 biolink:NamedThing positive regulation of leukocyte mediated cytotoxicity Any process that activates or increases the frequency, rate or extent of leukocyte mediated cytotoxicity. tmpxe7fu0cj_hp_relaxed.owl stimulation of leukocyte mediated cytotoxicity|positive regulation of immune cell mediated cytotoxicity|activation of leukocyte mediated cytotoxicity|up-regulation of leukocyte mediated cytotoxicity|positive regulation of leucocyte mediated cytotoxicity|upregulation of leukocyte mediated cytotoxicity|up regulation of leukocyte mediated cytotoxicity biological_process owl:Class HP:0025617 biolink:NamedThing Abnormal plasma cell count An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 23:51:27+00:00 HPO:probinson owl:Class HP:0002846 biolink:NamedThing Abnormal B cell morphology A structural abnormality of B cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal B cells|Abnormality of B cells UMLS:C4021748 B cells are bursal or bone marrow-derived lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. A simple definition of B lymphocytes is a population of cells that express clonally diverse cell surface immunoglobulin (Ig) receptors recognizing specific antigenic epitopes. Over 10 B cell-specific cell surface molecules have been identified by monoclonal antibodies, including CD19, which is considered a pan-B cell and possibly follicular dendritic cell marker, and CD20, which is considered to be a marker for mature B cells. human_phenotype owl:Class UBERON:0004271 biolink:NamedThing outflow tract pericardium A pericardium that is part of a outflow tract [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pericardium of outflow tract EMAPA:37707|MA:0000491 uberon owl:Class GO:0003093 biolink:NamedThing regulation of glomerular filtration tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0001977 biolink:NamedThing renal system process involved in regulation of blood volume tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0100512 biolink:NamedThing Low levels of vitamin D A reduced concentration of Vitamin D. tmpxe7fu0cj_hp_relaxed.owl Vitamin D deficiency|Deficient in vitamin D SNOMEDCT_US:34713006|MSH:D014808|UMLS:C0042870 doelkens 2010-12-17T06:19:35Z human_phenotype owl:Class HP:0100511 biolink:NamedThing Abnormality of vitamin D metabolism tmpxe7fu0cj_hp_relaxed.owl Abnormality of vitamin D metabolism UMLS:C4022035 doelkens 2010-12-17T06:19:15Z human_phenotype owl:Class HP:0033680 biolink:NamedThing Pilocytic astrocytoma The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities. tmpxe7fu0cj_hp_relaxed.owl 2021-03-06 13:07:15+00:00 NCIT:C4047 peter owl:Class HP:0009592 biolink:NamedThing Astrocytoma Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. tmpxe7fu0cj_hp_relaxed.owl MSH:D001254|SNOMEDCT_US:38713004|UMLS:C0004114 peter 2009-01-28T10:51:01Z owl:Class UBERON:0012344 biolink:NamedThing holocrine gland Any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen. tmpxe7fu0cj_hp_relaxed.owl BTO:0002325|MA:0003042 uberon owl:Class GO:1905268 biolink:NamedThing negative regulation of chromatin organization Any process that stops, prevents or reduces the frequency, rate or extent of chromatin organization. tmpxe7fu0cj_hp_relaxed.owl down-regulation of chromatin organization|down regulation of chromatin organisation|down regulation of establishment or maintenance of chromatin architecture|inhibition of establishment or maintenance of chromatin architecture|downregulation of establishment or maintenance of chromatin architecture|negative regulation of chromatin modification|down-regulation of chromatin organisation|inhibition of chromatin organization|negative regulation of establishment or maintenance of chromatin architecture|downregulation of chromatin organization|downregulation of chromatin organisation|inhibition of chromatin organisation|down-regulation of establishment or maintenance of chromatin architecture|negative regulation of chromatin organisation|down regulation of chromatin organization pr 2016-06-15T20:14:47Z GO:1903309 biological_process owl:Class GO:1905652 biolink:NamedThing negative regulation of artery morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of artery morphogenesis. tmpxe7fu0cj_hp_relaxed.owl negative regulation of arteriogenesis|down regulation of artery morphogenesis|down-regulation of arterial morphogenesis|inhibition of arterial morphogenesis|inhibition of artery morphogenesis|down regulation of arterial morphogenesis|downregulation of artery morphogenesis|negative regulation of arterial morphogenesis|down regulation of arteriogenesis|down-regulation of arteriogenesis|down-regulation of artery morphogenesis|downregulation of arterial morphogenesis|downregulation of arteriogenesis|inhibition of arteriogenesis rph 2016-11-09T12:19:53Z biological_process owl:Class GO:0008088 biolink:NamedThing axo-dendritic transport The directed movement of organelles or molecules along microtubules in neuron projections. tmpxe7fu0cj_hp_relaxed.owl axonal transport|axon cargo transport|axoplasmic transport Wikipedia:Axoplasmic_transport biological_process owl:Class PR:P19437 biolink:NamedThing B-lymphocyte antigen CD20 (mouse) A membrane-spanning 4-domains subfamily A member 1 that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl B-cell differentiation antigen Ly-44 (mouse)|Ms4a1|Ms4a2|Cd20|mMS4A1|Ly-44|membrane-spanning 4-domains subfamily A member 1 (mouse)|lymphocyte antigen 44 (mouse)|CD20 (mouse) UniProtKB:P19437 Category=organism-gene. protein owl:Class PR:000001289 biolink:NamedThing membrane-spanning 4-domains subfamily A member 1 A protein that is a translation product of the human MS4A1 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl leukocyte surface antigen Leu-16|B-cell differentiation antigen Ly-44|Ly-44|lymphocyte antigen 44|CD20|Bp35|B-lymphocyte antigen CD20|B-lymphocyte surface antigen B1|Ms4a2|B-cell surface antigen CD20|MS4A1 PIRSF:PIRSF001995|IUPHARobj:2628 Category=gene. Requested by=CL. protein owl:Class GO:1903337 biolink:NamedThing positive regulation of vacuolar transport Any process that activates or increases the frequency, rate or extent of vacuolar transport. tmpxe7fu0cj_hp_relaxed.owl up regulation of vacuolar transport|activation of vacuolar transport|up-regulation of vacuolar transport|upregulation of vacuolar transport vw 2014-08-18T13:16:19Z biological_process owl:Class CHEBI:68452 biolink:NamedThing azole Any monocyclic heteroarene consisting of a five-membered ring containing nitrogen. Azoles can also contain one or more other non-carbon atoms, such as nitrogen, sulfur or oxygen. tmpxe7fu0cj_hp_relaxed.owl azoles Wikipedia:Azole chebi_ontology owl:Class HP:0002536 biolink:NamedThing Abnormal cortical gyration An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. tmpxe7fu0cj_hp_relaxed.owl Cerebral gyral anomalies|Gyral disorganization|Abnormal gyration UMLS:C1856019 HP:0006900 owl:Class GO:0002613 biolink:NamedThing regulation of monocyte antigen processing and presentation Any process that modulates the frequency, rate, or extent of monocyte antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0000864 biolink:NamedThing Abnormality of the hypothalamus-pituitary axis Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025819 HP:0000844|HP:0000838 human_phenotype owl:Class UBERON:0001766 biolink:NamedThing anterior chamber of eyeball The space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens. tmpxe7fu0cj_hp_relaxed.owl eye anterior chamber|camera anterior bulbi oculi|anterior chamber of eye|anterior chamber|camera oculi anterior|camera anterior bulbi|camera anterior EHDAA:9033|UMLS:C0003151|GAID:889|FMA:58078|Wikipedia:Anterior_chamber_of_eyeball|NCIT:C12667|MESH:D000867|VHOG:0001431|EHDAA2:0000129|SCTID:181160009|BTO:0002084|EMAPA:18231|MA:0000262 http://upload.wikimedia.org/wikipedia/commons/1/1e/Schematic_diagram_of_the_human_eye_en.svg uberon owl:Class The part of the eyeball between the cornea and the iris, filled with aqueous humor. [TFD][VHOG] space in EHDAA2 - consider adding Cavity of anterior chamber of eyeball HP:0000965 biolink:NamedThing Cutis marmorata A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0263401 HP:0001037 owl:Class PATO:0001404 biolink:NamedThing nucleate quality A cellular quality inhering in a bearer by virtue of bearer's number of nuclei. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:0003298 biolink:NamedThing physiological muscle hypertrophy The enlargement or overgrowth of all or part of a muscle organ or tissue due to an increase in the size of its muscle cells. Physiological hypertrophy is a normal process during development. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-22T09:24:51Z biological_process owl:Class GO:0014896 biolink:NamedThing muscle hypertrophy The muscle system process that results in enlargement or overgrowth of all or part of a muscle organ due to an increase in the size of its muscle cells. Physiological hypertrophy is a normal process during development (it stops in cardiac muscle after adolescence) and can also be brought on in response to demand. In athletes cardiac and skeletal muscles undergo hypertrophy stimulated by increasing muscle activity on exercise. Smooth muscle cells in the uterus undergo hypertrophy during pregnancy. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Muscle_hypertrophy biological_process owl:Class HP:0033515 biolink:NamedThing Opioid addiction Addiction to opioids. tmpxe7fu0cj_hp_relaxed.owl Opioid dependence 2021-01-13 12:25:55+00:00 peter owl:Class HP:0003312 biolink:NamedThing Abnormal form of the vertebral bodies Abnormal morphology of vertebral body. tmpxe7fu0cj_hp_relaxed.owl Abnormally shaped vertebrae UMLS:C1839326 human_phenotype owl:Class GO:0048871 biolink:NamedThing multicellular organismal homeostasis Any process involved in the maintenance of an internal steady state at the level of the multicellular organism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009139 biolink:NamedThing Osteolysis involving bones of the lower limbs tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024576 peter 2008-04-17T02:52:00Z human_phenotype owl:Class HP:0100850 biolink:NamedThing Neoplasm of the penis A tumor (abnormal growth of tissue) of the penis. tmpxe7fu0cj_hp_relaxed.owl Penis tumor|Neoplasia of the penis|Penis tumour SNOMEDCT_US:126896003|UMLS:C0030849|MSH:D010412|NCIT:C3262 doelkens 2011-06-17T01:38:16Z human_phenotype owl:Class UBERON:0006245 biolink:NamedThing humerus cartilage element A humerus endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl humeral cartilage condensation EHDAA2:0000787|EHDAA:6240|VHOG:0001120|EMAPA:17713 uberon owl:Class UBERON:0005258 biolink:NamedThing upper arm mesenchyme Mesenchyme that is part of a developing forelimb stylopod [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0002114|EMAPA:17426|VHOG:0000505 uberon owl:Class HP:0012709 biolink:NamedThing Abnormal brain choline/creatine ratio by MRS A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022760 Creatine (Cr) is related to cell energy pathways, being both the substrate and product of creatine kinase. Creatine reflects the energy potential available in brain tissue. Its concentration in normal brain remains very high and stable due to high metabolic energy needs of brain cells. Its peak is noticed at 3.0 ppm. Creatine-Choline ratios are an important indicator of disease states such as demyelization. peter 2014-03-22T08:12:15Z human_phenotype owl:Class HP:0030134 biolink:NamedThing Total absence von Willebrand factor multimers Complete absence of all von Willebrand factor multimers. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022614 owl:Class HP:0009423 biolink:NamedThing Bullet-shaped distal phalanx of the 3rd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped outermost bone of the middle finger UMLS:C4024372 doelkens 2009-01-14T03:16:46Z human_phenotype owl:Class HP:0009357 biolink:NamedThing Abnormality of the distal phalanx of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl Abnormality of terminal phalanx of middle-finger|Abnormality of the outermost bone of the 3rd finger UMLS:C4021486 doelkens 2009-01-12T11:40:58Z HP:0004179 human_phenotype owl:Class UBERON:0004827 biolink:NamedThing thyroid gland medulla A medulla that is part of a thyroid [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl medulla of thyroid gland follicle|medulla of thyroid|medulla of thyroid gland|thyroid gland follicle medulla|thyroid medulla|medulla of thyroid follicle|thyroid follicle medulla EMAPA:37768|MA:0000132 uberon owl:Class GO:0098975 biolink:NamedThing postsynapse of neuromuscular junction The postsynapse of a neuromuscular junction. In vertebrate muscles this includes the motor end-plate, consisting of postjunctional folds of the sarcolemma. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:2000195 biolink:NamedThing negative regulation of female gonad development Any process that stops, prevents, or reduces the frequency, rate or extent of female gonad development. tmpxe7fu0cj_hp_relaxed.owl negative regulation of ovarian development|negative regulation of ovary development yaf 2010-10-19T10:45:38Z biological_process owl:Class GO:0030186 biolink:NamedThing melatonin metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0043603 biolink:NamedThing cellular amide metabolic process The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl amide metabolism biological_process owl:Class HP:0500254 biolink:NamedThing Abnormal urine hexanoylglycine concentration Abnormal concentration of hexanoylglycine in the urine. tmpxe7fu0cj_hp_relaxed.owl Abnormal urinary N-hexanoylglycine levels 2019-03-08 20:56:21+00:00 owl:Class GO:0046673 biolink:NamedThing negative regulation of compound eye retinal cell programmed cell death Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death that occurs in the compound eye retina. tmpxe7fu0cj_hp_relaxed.owl down regulation of retinal cell programmed cell death|negative regulation of retina cell programmed cell death|down-regulation of retinal cell programmed cell death|downregulation of retinal cell programmed cell death|inhibition of retinal cell programmed cell death|negative regulation of retinal cell programmed cell death biological_process owl:Class GO:0010677 biolink:NamedThing negative regulation of cellular carbohydrate metabolic process Any process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100307 biolink:NamedThing Cerebellar hemisphere hypoplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022154 doelkens 2010-08-10T02:51:21Z human_phenotype owl:Class HP:0001321 biolink:NamedThing Cerebellar hypoplasia Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of cerebellum|Small cerebellum|Underdeveloped cerebellum|Congenital cerebellar hypoplasia|Hypoplastic cerebellum MSH:C562568|SNOMEDCT_US:16026008|UMLS:C0266470 By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments. HP:0007053|HP:0006806|HP:0006910|HP:0007038 owl:Class UBERON:0001979 biolink:NamedThing venule One of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins. tmpxe7fu0cj_hp_relaxed.owl venula ZFA:0005315|EMAPA:35917|MA:0000071|MESH:A07.231.432.952|VHOG:0001765|Wikipedia:Venule|SCTID:341687009|TAO:0005315|BTO:0002626|NCIT:C12818|FMA:63130|UMLS:C0042520 Illu:capillary.jpg uberon owl:Class Multi-tissue structure part of the blood vasculature formed by the anastomosis of capillaries. Venules carry blood toward the heart.[TAO] HP:0001436 biolink:NamedThing Abnormality of the foot musculature An anomaly of the musculature of foot. tmpxe7fu0cj_hp_relaxed.owl Abnormal foot muscles UMLS:C4025785 peter 2008-04-07T10:21:00Z human_phenotype owl:Class GO:0040015 biolink:NamedThing negative regulation of multicellular organism growth Any process that stops, prevents, or reduces the frequency, rate or extent of growth of an organism to reach its usual body size. tmpxe7fu0cj_hp_relaxed.owl negative regulation of body growth|negative regulation of body size biological_process owl:Class HP:0041223 biolink:NamedThing Fractured metatarsal bone of digit 5 A partial or complete breakage of the metatarsal bone of digit 5. tmpxe7fu0cj_hp_relaxed.owl bone metatarsal bone of digit 5 owl:Class HP:0008089 biolink:NamedThing Abnormality of the fifth metatarsal bone An anomaly of the fifth metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the 5th long bone of foot UMLS:C4024733 human_phenotype owl:Class HP:0000048 biolink:NamedThing Bifid scrotum Midline indentation or cleft of the scrotum. tmpxe7fu0cj_hp_relaxed.owl Cleft of scrotum|Scrotal cleft SNOMEDCT_US:236780002|UMLS:C0341787 A testis may or may not be present in each half of the scrotum. human_phenotype owl:Class UBERON:0001612 biolink:NamedThing facial artery A branch of the external carotid artery that supplies structures of the face. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl arteria maxillaris externa|external maxillary artery NCIT:C32578|UMLS:C0226109|FMA:49549|EMAPA:19213|OpenCyc:Mx4rwCt95ZwpEbGdrcN5Y29ycA|MA:0001950|SCTID:181328007|Wikipedia:Facial_artery http://upload.wikimedia.org/wikipedia/commons/7/7b/Gray508.png uberon owl:Class GO:1904000 biolink:NamedThing positive regulation of eating behavior Any process that activates or increases the frequency, rate or extent of eating behavior. tmpxe7fu0cj_hp_relaxed.owl up-regulation of eating behaviour|upregulation of eating behavior|up-regulation of eating behavior|upregulation of eating behaviour|positive regulation of eating behaviour|up regulation of eating behaviour|up regulation of eating behavior|activation of eating behavior|activation of eating behaviour sl 2015-03-05T20:40:35Z biological_process owl:Class HP:0009271 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 4th finger A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. tmpxe7fu0cj_hp_relaxed.owl Delta-shaped epiphysis of the proximal phalanx of the 4th finger|Triangular end part of the innermost bone of ring finger UMLS:C4021505 doelkens 2009-01-07T12:12:59Z human_phenotype owl:Class HP:0009248 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 4th finger tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the innermost bone of the ring finger UMLS:C4024499 doelkens 2009-01-07T12:04:09Z human_phenotype owl:Class UBERON:0005236 biolink:NamedThing osseus labyrinth vestibule A small, oval, bony chamber of the labyrinth. The vestibule contains the utricle and saccule, organs which are part of the balancing apparatus of the ear. tmpxe7fu0cj_hp_relaxed.owl osseous labyrinth vestibule|bony labyrinth vestibule|vestibule of bony labyrinth|inner ear vestibulum|vestibule|vestibulum auris|vestibular part of bony labyrinth|vestibular apparatus|inner ear vestibule|vestibulum labyrinthi VHOG:0001220|CALOHA:TS-0479|MA:0001185|MESH:D014722|XAO:0000199|NCIT:C33873|BTO:0003382|UMLS:C0458718|EV:0100366|GAID:881|FMA:60183 http://upload.wikimedia.org/wikipedia/commons/5/5f/Gray919.png uberon owl:Class The vestibule is the central part of the osseous labyrinth, and is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. [Wikipedia:Vestibule_of_the_ear][VHOG] UBERON:0003089 biolink:NamedThing sclerotome Ventral somitic compartment that is a precursor of the axial skeleton[XAO]. Sclerotomes eventually differentiate into the vertebrae and most of the skull. The caudal (posterior) half of one sclerotome fuses with the rostral (anterior) half of the adjacent one to form each vertebra. From their initial location within the somite, the sclerotome cells migrate medially towards the notochord. These cells meet the sclerotome cells from the other side to form the vertebral body. From this vertebral body, sclerotome cells move dorsally and surround the developing spinal cord, forming the vertebral arch[WP]. tmpxe7fu0cj_hp_relaxed.owl sclerotomus|sclerotomes Wikipedia:Sclerotome|VHOG:0000680|TAO:0001080|XAO:0000397|AEO:0000212|ZFA:0001080|AAO:0010571|EHDAA2:0003439|UMLS:C0183176|EMAPA:31159|NCIT:C34287|FMA:295652 http://upload.wikimedia.org/wikipedia/commons/9/96/Gray65.png uberon owl:Class Skeletogenic portion of somites.[AAO] The vertebrate sclerotome has no equivalent in amphioxus and is a novelty linked with the evolution of the axial skeleton.[well established][VHOG] part_of somite in XAO UBERON:0005856 biolink:NamedThing developing mesenchymal condensation A delimited region of dense mesenchyme within looser mesenchyme. tmpxe7fu0cj_hp_relaxed.owl mesenchyme condensation AEO:0000148|EHDAA2_RETIRED:0003148|EHDAA:8979 uberon owl:Class GO:0045984 biolink:NamedThing negative regulation of pyrimidine nucleobase metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. tmpxe7fu0cj_hp_relaxed.owl negative regulation of pyrimidine base metabolism|negative regulation of pyrimidine base metabolic process|downregulation of pyrimidine base metabolic process|inhibition of pyrimidine base metabolic process|down regulation of pyrimidine base metabolic process|down-regulation of pyrimidine base metabolic process biological_process owl:Class UBERON:0003387 biolink:NamedThing smooth muscle of trachea A portion of smooth muscle tissue that is part of a trachea [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl trachea smooth muscle|tracheal smooth muscle MA:0001863|FMA:262010|BTO:0001391|NCIT:C49306|EMAPA:19192|UMLS:C1710458 UBERON:0004244 uberon owl:Class HP:0009722 biolink:NamedThing Dental enamel pits The presence of small depressions in the dental enamel. tmpxe7fu0cj_hp_relaxed.owl Pitting of tooth enamel|Dental enamel pits|Dental enamel pitting|Tooth enamel pits UMLS:C1860711 peter 2009-01-31T09:44:34Z human_phenotype owl:Class GO:0060502 biolink:NamedThing epithelial cell proliferation involved in lung morphogenesis The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population that contributes to the shaping of the lung. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009696 biolink:NamedThing Triangular epiphyses of the thumb tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the thumb bone UMLS:C4024231 doelkens 2009-01-30T09:20:16Z human_phenotype owl:Class HP:0031125 biolink:NamedThing Decreased platelet alpha-2A-adrenergic receptor Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 12:30:42+00:00 peter owl:Class HP:0011878 biolink:NamedThing Abnormal platelet membrane protein expression Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023151 peter 2012-05-31T04:00:21Z human_phenotype owl:Class UBERON:0009576 biolink:NamedThing medulla oblongata sulcus limitans A sulcus limitans of neural tube that is part of a future medulla oblongata. tmpxe7fu0cj_hp_relaxed.owl EMAPA:17561|EHDAA2:0001100 uberon owl:Class HP:0007132 biolink:NamedThing Pallidal degeneration Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0393577|SNOMEDCT_US:230302004 human_phenotype owl:Class GO:0090171 biolink:NamedThing chondrocyte morphogenesis The process in which the structures of a chondrocyte are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a chondrocyte. tmpxe7fu0cj_hp_relaxed.owl tb 2009-12-11T10:36:02Z biological_process owl:Class UBERON:0000997 biolink:NamedThing mammalian vulva External genital organs of the female mammal[WP]. tmpxe7fu0cj_hp_relaxed.owl female pudendum|mammalian vulva|vulva|skin of female pudendum|pudendum femininum|puboperineal region|pudendum muliebre|skin of vulva|pudendum BTO:0003101|EFO:0000978|UMLS:C0042993|GAID:383|FMA:20462|OpenCyc:Mx4rvgAWeJwpEbGdrcN5Y29ycA|galen:Vulva|NCIT:C12408|EMAPA:36631|MAT:0000169|EV:0100118|MIAA:0000169|CALOHA:TS-1168|MESH:D014844|VHOG:0001458|MA:0000395 http://upload.wikimedia.org/wikipedia/commons/d/da/Female_unshaved_genitalia.jpg uberon owl:Class The external genital organs of the female, including the labia majora, labia minora, clitoris, and vestibule of the vagina. [TFD][VHOG] vulval HP:0025066 biolink:NamedThing Decreased mean corpuscular volume A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters). tmpxe7fu0cj_hp_relaxed.owl Microcytosis|Decreased MCV|Reduced erythrocyte volume 2016-09-26 10:10:48+00:00 HPO:probinson owl:Class HP:0025065 biolink:NamedThing Abnormal mean corpuscular volume A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters. tmpxe7fu0cj_hp_relaxed.owl Abnormal MCV|Abnormal erythrocyte volume 2016-09-26 10:08:33+00:00 HPO:probinson owl:Class HP:0030947 biolink:NamedThing Conjunctival follicles Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells. tmpxe7fu0cj_hp_relaxed.owl 2017-01-13 20:23:46+00:00 The follicles in follicular conjunctivitis are usually most prominent in the inferior palpebral and forniceal conjunctiva. As compared to conjunctival papillae, conjunctival follicles appear more pale on the surface and redder at the base. robinp owl:Class HP:0030113 biolink:NamedThing Abnormal muscle fiber dysferlin A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre dysferlin UMLS:C4022632 owl:Class HP:0002021 biolink:NamedThing Pyloric stenosis Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss. tmpxe7fu0cj_hp_relaxed.owl Infantile hypertrophic pyloric stenosis|Pylorus stenosis MSH:D011707|UMLS:C0034194|MEDDRA:10037621|SNOMEDCT_US:367403001|Fyler:4444 Pyloric stenosis occurs in the first few months of life. owl:Class HP:0004400 biolink:NamedThing Abnormality of the pylorus An abnormality of the pylorus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025326 peter 2008-03-18T09:15:00Z human_phenotype owl:Class HP:0011814 biolink:NamedThing Increased urinary hypoxanthine An increased level of hypoxanthine in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3810487 peter 2012-04-28T03:38:52Z owl:Class HP:0001682 biolink:NamedThing Subvalvular aortic stenosis A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. tmpxe7fu0cj_hp_relaxed.owl Subaortic stenosis|Narrowing of blood vessel below aortic heart valve SNOMEDCT_US:204368006|MSH:D001020|UMLS:C0340375 Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta. human_phenotype owl:Class HP:0011103 biolink:NamedThing Abnormal left ventricular outflow tract morphology An abnormality of the outflow tract of the left ventricle. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the left ventricular outflow tract SNOMEDCT_US:253545000|UMLS:C0344916 peter 2011-06-05T04:15:50Z human_phenotype owl:Class UBERON:0012140 biolink:NamedThing digitopodium region A segment of the autopod consisting of both acropodial region and metapodial region, but excluding the mesopodial/basopodial region. tmpxe7fu0cj_hp_relaxed.owl acropodium (Wagner) uberon https://github.com/obophenotype/uberon/wiki/Subdivisions-of-the-autopod owl:Class some sources call this the acropodium. see https://github.com/obophenotype/uberon/wiki/Subdivisions-of-the-autopod GO:0019755 biolink:NamedThing one-carbon compound transport The directed movement of one-carbon compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl one carbon compound transport biological_process owl:Class GO:0022412 biolink:NamedThing cellular process involved in reproduction in multicellular organism A process, occurring at the cellular level, that is involved in the reproductive function of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl reproductive cellular process in multicellular organism biological_process owl:Class HP:0003911 biolink:NamedThing Flared humeral metaphysis Flaring (increase of width with a splayed appearance) of the humeral metaphysis. tmpxe7fu0cj_hp_relaxed.owl Wide/broad humeral metaphysis|Flared wide portion of long bone of upper arm|Flared humerus UMLS:C4020912|UMLS:C4020835 HP:0003925 human_phenotype owl:Class HP:0025522 biolink:NamedThing Elongated chordae tendinae of the mitral valve Abnormal increased in length of the chordae tendinae of the mitral valve. tmpxe7fu0cj_hp_relaxed.owl 2017-05-17 23:42:26+00:00 HPO:probinson owl:Class UBERON:0006288 biolink:NamedThing rib cartilage element A rib endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl EHDAA:8347|VHOG:0001122|EMAPA:17678|EHDAA2:0001716 uberon owl:Class GO:0071867 biolink:NamedThing response to monoamine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monoamine stimulus. A monoamine is any of a group of molecular messengers that contain one amino group that is connected to an aromatic ring by ethylene group (-CH2-CH2-). Monoamines are derived from the aromatic amino acids phenylalanine, tyrosine, histidine and tryptophan. tmpxe7fu0cj_hp_relaxed.owl response to monoamine stimulus mah 2010-09-13T02:36:37Z biological_process owl:Class GO:0014033 biolink:NamedThing neural crest cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:2001199 biolink:NamedThing negative regulation of dendritic cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell differentiation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-11-04T02:01:33Z biological_process owl:Class GO:1902106 biolink:NamedThing negative regulation of leukocyte differentiation Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of immune cell differentiation|down-regulation of leukocyte differentiation|inhibition of leukocyte differentiation|downregulation of leucocyte differentiation|down regulation of immune cell differentiation|down regulation of leucocyte differentiation|negative regulation of leucocyte differentiation|downregulation of immune cell differentiation|inhibition of leucocyte differentiation|inhibition of immune cell differentiation|downregulation of leukocyte differentiation|down-regulation of leucocyte differentiation|down regulation of leukocyte differentiation|down-regulation of immune cell differentiation pr 2013-05-02T17:32:47Z biological_process owl:Class GO:0098852 biolink:NamedThing lytic vacuole membrane The lipid bilayer surrounding a lytic vacuole and separating its contents from the cytoplasm of the cell. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class CL:0008017 biolink:NamedThing adult skeletal muscle myoblast A skeletal muscle myoblast that is part of a skeletal mucle. These cells are formed following acivation and division of skeletal muscle satellite cells. They form a transient population that is lost when they fuse to form skeletal muscle fibers. tmpxe7fu0cj_hp_relaxed.owl myogenic precursor cell The vast majority of these cells develop from skeletal muscle satellite cells, although there are some reports of other origins. cell owl:Class CL:0000515 biolink:NamedThing skeletal muscle myoblast A myoblast that differentiates into skeletal muscle fibers. tmpxe7fu0cj_hp_relaxed.owl skeletal myoblast FMA:84799 cell owl:Class UBERON:0010579 biolink:NamedThing manual digit 5 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit 5 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl manual digit V phalanx pre-cartilage condensation|hand digit 5 phalanx pre-cartilage condensation|fore limb digit 5 phalanx pre-cartilage condensation EHDAA2:0000540|EMAPA:17723 uberon owl:Class UBERON:0015029 biolink:NamedThing manual digit 5 phalanx endochondral element A manual digit 5 phalanx bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl manual digit 5 phalanx skeletal element|manual digit 5 phalanx element|manual digit V phalanx endochondral element uberon owl:Class HP:0001881 biolink:NamedThing Abnormal leukocyte morphology An abnormality of leukocytes. tmpxe7fu0cj_hp_relaxed.owl Abnormality of leukocytes SNOMEDCT_US:134199001|UMLS:C0152009|SNOMEDCT_US:24827003 Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue. owl:Class UBERON:0035131 biolink:NamedThing auditory ossicle cartilage element tmpxe7fu0cj_hp_relaxed.owl ossicle cartilage condensation EMAPA:35979 uberon owl:Class UBERON:0035130 biolink:NamedThing auditory ossicle endochondral element tmpxe7fu0cj_hp_relaxed.owl auditory skeletal element|ear ossicle element|ossicle element|ossicle element of ear|ear ossicles element|middle ear ossicle element|ossicle element of inner ear|ossicular chain element|middle ear skeletal element uberon owl:Class GO:0002376 biolink:NamedThing immune system process Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Immune_system Note that this term is a direct child of 'biological_process ; GO:0008150' because some immune system processes are types of cellular process (GO:0009987), whereas others are types of multicellular organism process (GO:0032501). biological_process owl:Class HP:0009575 biolink:NamedThing Triangular shaped middle phalanx of the 2nd finger Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped middle bone of index finger UMLS:C4024283 doelkens 2009-01-28T05:10:24Z human_phenotype owl:Class HP:0009546 biolink:NamedThing Triangular shaped phalanges of the 2nd finger Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular bones of index finger|Triangular index finger phalanges UMLS:C4021445 doelkens 2009-01-21T10:19:34Z HP:0004117 human_phenotype owl:Class HP:0006243 biolink:NamedThing Phalangeal dislocation tmpxe7fu0cj_hp_relaxed.owl UMLS:C2673396 human_phenotype owl:Class HP:0001373 biolink:NamedThing Joint dislocation Displacement or malalignment of joints. tmpxe7fu0cj_hp_relaxed.owl Joint dislocations|Joint dislocation SNOMEDCT_US:87642003|MSH:D004204|SNOMEDCT_US:108367008|UMLS:C0012691 Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation. HP:0002772|HP:0005837 owl:Class HP:0100572 biolink:NamedThing Fibrous cardiac diverticulum A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly. tmpxe7fu0cj_hp_relaxed.owl Congenital ventricular aneurysm UMLS:C4020964 doelkens 2010-12-21T05:14:00Z human_phenotype owl:Class HP:0100571 biolink:NamedThing Cardiac diverticulum A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular. tmpxe7fu0cj_hp_relaxed.owl Ventricular diverticulum UMLS:C4020965 doelkens 2010-12-21T05:11:26Z human_phenotype owl:Class UBERON:0036293 biolink:NamedThing oral frenulum A small fold of mucous membrane in the mouth, connecting either the tongue or the lip to the mouth mucosa. tmpxe7fu0cj_hp_relaxed.owl oral frenum|oral frenulum|frenulum|oral frenula uberon owl:Class HP:0041145 biolink:NamedThing Fractured acetabular part of hip bone A partial or complete breakage of the acetabular part of hip bone. tmpxe7fu0cj_hp_relaxed.owl bone acetabular part of hip bone owl:Class HP:0033038 biolink:NamedThing Anti-RNA-polymerase-III-autoantibody positivity The presence of autoantibodies in the serum that react to RNA-polymerase III. tmpxe7fu0cj_hp_relaxed.owl Anti-RNA-polymerase III-autoantibodies can be detected in patients with systemic sclerosis. peter owl:Class HP:0031952 biolink:NamedThing Neurogenic claudication Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine. tmpxe7fu0cj_hp_relaxed.owl 2018-07-07 13:44:53+00:00 peter owl:Class UBERON:0009477 biolink:NamedThing associated mesenchyme of otic placode Mesenchyme that is part of a otic placode. tmpxe7fu0cj_hp_relaxed.owl EMAPA:16196|EHDAA2:0001340 uberon owl:Class HP:0003536 biolink:NamedThing Decreased fumarate hydratase activity An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1853903 Fumarate hydratase belongs to the tricarboxylic acid (Krebs) cycle. It catalyzes the conversion of fumarate to malate. human_phenotype owl:Class HP:0000816 biolink:NamedThing Abnormality of Krebs cycle metabolism An abnormality of the tricarboxylic acid cycle. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the tricarboxylic cycle|Abnormality of citric acid cycle UMLS:C4021795 peter 2008-03-17T12:58:00Z human_phenotype owl:Class PATO:0001152 biolink:NamedThing susceptible toward A quality inhering in a bearer by virtue of the bearer's having susceptibilty toward an external stimulus. tmpxe7fu0cj_hp_relaxed.owl susceptible quality owl:Class PATO:0001043 biolink:NamedThing susceptibility toward A quality inhering in an entity by virtue of the bearer's propensity to resist an external stimulus. tmpxe7fu0cj_hp_relaxed.owl susceptibility quality owl:Class HP:0034129 biolink:NamedThing Anti-GT1a IgM antibody positivity The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:53:39+00:00 peter owl:Class HP:0034128 biolink:NamedThing Anti-GT1a antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:53:11+00:00 peter owl:Class UBERON:0010695 biolink:NamedThing mesenchyme of tarsal region Mesenchyme of the carpal region that contributes to the tarsal skeleton. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18502 uberon owl:Class GO:0010638 biolink:NamedThing positive regulation of organelle organization Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. tmpxe7fu0cj_hp_relaxed.owl positive regulation of organelle organization and biogenesis|positive regulation of organelle organisation biological_process owl:Class GO:0016049 biolink:NamedThing cell growth The process in which a cell irreversibly increases in size over time by accretion and biosynthetic production of matter similar to that already present. tmpxe7fu0cj_hp_relaxed.owl cell expansion|cellular growth|growth of cell|non-developmental cell growth|metabolism resulting in cell growth|metabolic process resulting in cell growth|non-developmental growth of a unicellular organism GO:0048591 biological_process owl:Class HP:0002933 biolink:NamedThing Ventral hernia Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:414396006|UMLS:C0019326|MSH:D006555 human_phenotype owl:Class CHEBI:52206 biolink:NamedThing biochemical role A biological role played by the molecular entity or part thereof within a biochemical context. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0030336 biolink:NamedThing Absence of CD4-positive, CD25-positive regulatory T cells Lack of CD4+CD25+ T regulatory cells. tmpxe7fu0cj_hp_relaxed.owl Absence of CD4+CD25+ T regulatory cells|Absence of CD4+CD25+ Tregs UMLS:C4021039 owl:Class HP:0030335 biolink:NamedThing Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021859 owl:Class HP:0007162 biolink:NamedThing Diffuse demyelination of the cerebral white matter A diffuse loss of myelin from nerve fibers in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024930 human_phenotype owl:Class HP:0007305 biolink:NamedThing CNS demyelination A loss of myelin from nerve fibers in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl Demyelination in central white matter UMLS:C0338474 CNS demyelination affects the white matter, which consists mostly of axons with their envelope of myelin, along with two types of neuroglia: oligo-dendrocytes and astrocytes. HP:0007222 human_phenotype owl:Class GO:0010639 biolink:NamedThing negative regulation of organelle organization Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. tmpxe7fu0cj_hp_relaxed.owl negative regulation of organelle organization and biogenesis|negative regulation of organelle organisation biological_process owl:Class GO:0045685 biolink:NamedThing regulation of glial cell differentiation Any process that modulates the frequency, rate or extent of glia cell differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of glia cell differentiation|regulation of neuroglia differentiation biological_process owl:Class UBERON:0004061 biolink:NamedThing neural tube mantle layer The layer of glia and differentiating neurons that forms as a second layer around the germinal neuroepithium; as this develops it comes to lie between the ventricular and marginal layers and includes the basal and alar plates. Develops into neurons and glia forming a gray matter layer. tmpxe7fu0cj_hp_relaxed.owl neural tube intermediate zone|future brain marginal layer EMAPA:35360|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1367|EMAPA:17148 uberon owl:Class UBERON:0012289 biolink:NamedThing fused tarsal bones 2 and 3 A tarsal bone that is formed from the fusion of the 2nd and 3rd tarsal bones. tmpxe7fu0cj_hp_relaxed.owl os tarsale II et III|fused tarsals 2 and 3|os cuneiforme intermediolaterale|tarsals 2+3 uberon owl:Class UBERON:0004431 biolink:NamedThing proximal epiphysis of fifth metatarsal bone A proximal epiphysis that is part of a metatarsal bone of digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal end of fifth metatarsal bone|base of fifth metatarsal bone|proximal epiphysis of metatarsal 5 FMA:42967 uberon owl:Class GO:0090091 biolink:NamedThing positive regulation of extracellular matrix disassembly Any process that increases the rate, frequency or extent of extracellular matrix disassembly. Extracellular matrix disassembly is a process that results in the breakdown of the extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl tb 2009-11-04T10:03:25Z biological_process owl:Class HP:0032884 biolink:NamedThing Focal aware sensory seizure with somatosensory features A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl These seizures involve the sensorimotor cortex. peter owl:Class GO:0060914 biolink:NamedThing heart formation The developmental process pertaining to the initial formation of the heart from unspecified parts. This process begins with the specific processes that contribute to the appearance of the heart field and the arrival of cardiac neural crest to the heart region. The process ends when the structural rudiment is recognizable. tmpxe7fu0cj_hp_relaxed.owl cardiogenesis dph 2009-09-17T09:02:13Z biological_process owl:Class GO:0048645 biolink:NamedThing animal organ formation The process pertaining to the initial formation of an animal organ from unspecified parts. The process begins with the specific processes that contribute to the appearance of the discrete structure, such as inductive events, and ends when the structural rudiment of the organ is recognizable, such as a condensation of mesenchymal cells into the organ rudiment. Organs are a natural part or structure in an animal or a plant, capable of performing some special action (termed its function), which is essential to the life or well-being of the whole. The heart and lungs are organs of animals, and the petal and leaf are organs of plants. In animals the organs are generally made up of several tissues, one of which usually predominates, and determines the principal function of the organ. tmpxe7fu0cj_hp_relaxed.owl initiation of an animal organ primordium|animal organ primordium initiation biological_process owl:Class GO:0030888 biolink:NamedThing regulation of B cell proliferation Any process that modulates the frequency, rate or extent of B cell proliferation. tmpxe7fu0cj_hp_relaxed.owl regulation of B lymphocyte proliferation|regulation of B-lymphocyte proliferation|regulation of B-cell proliferation biological_process owl:Class CHEBI:15705 biolink:NamedThing L-alpha-amino acid Any alpha-amino acid having L-configuration at the alpha-carbon. tmpxe7fu0cj_hp_relaxed.owl L-alpha-amino acids|L-2-Amino acid|L-Amino acid|L-alpha-amino acid 0 C2H4NO2R 74.05870 74.02420 N[C@@H]([*])C(O)=O KEGG:C00151 CHEBI:13072|CHEBI:13797|CHEBI:21224|CHEBI:6175|CHEBI:13243 chebi_ontology owl:Class PATO:0000117 biolink:NamedThing size A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0008464 biolink:NamedThing Absent spinous processes of lower thoracic and lumbar vertebrae tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024671 human_phenotype owl:Class HP:0008516 biolink:NamedThing Abnormality of the vertebral spinous processes tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024661 peter 2008-04-04T02:31:00Z human_phenotype owl:Class UBERON:0004068 biolink:NamedThing medial nasal prominence The central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it. tmpxe7fu0cj_hp_relaxed.owl medial nasal process|prominentia nasalis medialis|medial-nasal process|medial nasal swelling|nasomedial prominence EMAPA:16808|VHOG:0000804|FMA:295858|EHDAA2:0001076|EHDAA:4792 http://upload.wikimedia.org/wikipedia/commons/8/85/Gray45.png uberon owl:Class Fusion of right and left medial nasal processes forms a primary palate rostrally and the nasal septum caudally. The incisive bone, including upper incisor teeth and the rostral up- per lip, are derived from the primary palate. The nasal septum consists of bone, cartilage, and a patch of soft tissue membrane that separates right & left halves of the nasal cavity. HP:0009758 biolink:NamedThing Pyramidal skinfold extending from the base to the top of the nails Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024212 peter 2009-01-31T09:08:49Z owl:Class GO:0045661 biolink:NamedThing regulation of myoblast differentiation Any process that modulates the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010891 biolink:NamedThing Morbus Scheuermann A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays). tmpxe7fu0cj_hp_relaxed.owl Scheuermann kyphosis|Calve disease|Juvenile Osteochondrosis of the spine|Sherman's Disease|Scheuermann disease UMLS:C0036310|SNOMEDCT_US:53406005|MSH:D012544 Scheuermann's disease usually manifests during the 2nd decade and leads to the appearance of the so called adolescence kyphosis. Late manifestations may be wedge-shaped vertebrae, platyspondyly and arthrosis affecting the verterbal collum. sdoelken 2010-09-25T11:04:19Z human_phenotype owl:Class NBO:0000092 biolink:NamedThing anxiety-related behavior "An emotional behavior related to a feeling of uneasiness or nervousness triggered by an identifiable triggering stimulus." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl anxiety-related behaviour 2011-03-31T10:01:25Z George Gkoutos behavior_ontology owl:Class NBO:0000018 biolink:NamedThing fear/anxiety related behavior "Emotional behavior related to fear or anxiety." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl fear/anxiety related behaviour 2011-04-14T01:03:39Z George Gkoutos behavior_ontology owl:Class UBERON:0002240 biolink:NamedThing spinal cord Part of the central nervous system located in the vertebral canal continuous with and caudal to the brain; demarcated from brain by plane of foramen magnum. It is composed of an inner core of gray matter in which nerve cells predominate, and an outer layer of white matter in which myelinated nerve fibers predominate, and surrounds the central canal. (CUMBO). tmpxe7fu0cj_hp_relaxed.owl SpC|medulla spinalis|spinal medulla|fissura cerebro-cerebellaris|cerebro-cerebellar fissure|spinal cord structure|cerebrocerebellar fissure|fissura cerebrocerebellaris BM:SpC|AAO:0010151|TAO:0000075|EHDAA:2863|FMA:7647|EV:0100316|DHBA:12890|Wikipedia:Spinal_cord|DMBA:17651|XAO:0000020|UMLS:C0037925|GAID:695|SCTID:180959008|MIAA:0000183|BAMS:Spinal|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=22|CALOHA:TS-0953|EFO:0000110|MESH:D013116|BIRNLEX:1709|VHOG:0000601|MA:0000216|BTO:0001279|EMAPA:17577|BAMS:SP|EHDAA2:0001255|MAT:0000183|NCIT:C12464|ZFA:0000075|OpenCyc:Mx4rvVjjk5wpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/5/58/Spinal_cord_direv.svg TODO - add superclass to unify with VNC? uberon owl:Class Part of the central nervous system which descends from the hindbrain within the vertebral column.[AAO] (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2).[well established][VHOG] GO:0120277 biolink:NamedThing positive regulation of cerebral blood circulation Any process that activates or increases the frequency, rate or extent of cerebral blood circulation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of cerebrum blood circulation|positive regulation of telencephalon blood circulation|activation of cerebral blood circulation|up regulation of cerebral blood circulation|upregulation of cerebral blood circulation|up-regulation of cerebral blood circulation https://github.com/geneontology/go-ontology/issues/20107 krc 2020-10-21T06:55:42Z biological_process owl:Class HP:0010207 biolink:NamedThing Osteolytic defect of the proximal toe phalanx Dissolution or degeneration of bone tissue of the proximal toe phalanx. tmpxe7fu0cj_hp_relaxed.owl Osteolytic defects of the proximal phalanges of the toes UMLS:C4021314 doelkens 2009-05-29T01:54:18Z owl:Class HP:0008513 biolink:NamedThing Bilateral conductive hearing impairment A bilateral type of conductive hearing impairment. tmpxe7fu0cj_hp_relaxed.owl Bilateral conductive hearing loss|Bilateral conductive deafness UMLS:C0452136|SNOMEDCT_US:194417009 HP:0008536 human_phenotype owl:Class UBERON:0034922 biolink:NamedThing cell cluster A cluster of cells, largely surrounded by a morphological boundary. tmpxe7fu0cj_hp_relaxed.owl CARO:0020002|FMA:62807 uberon owl:Class UBERON:0004320 biolink:NamedThing middle phalanx of manual digit 2 A middle phalanx that is part of a hand digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl intermediate phalanx of 2nd finger|middle phalanx of 2nd digit of hand|2nd digit of hand middle phalanx|intermediate phalanx of second finger|hand digit 2 intermediate phalanx|second finger middle phalanx|middle phalanx of index finger|hand digit 2 middle phalanx|2nd finger middle phalanx|intermediate phalanx of hand digit 2|middle phalanx of 2nd finger|middle phalanx of second finger|second finger intermediate phalanx|middle phalanx of second digit of hand|middle phalanx of manual digit II|second middle phalanx of hand|2nd digit of hand intermediate phalanx|2nd finger intermediate phalanx|intermediate phalanx of 2nd digit of hand FMA:23933 uberon owl:Class HP:0007221 biolink:NamedThing Progressive truncal ataxia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849143 human_phenotype owl:Class HP:0002078 biolink:NamedThing Truncal ataxia Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. tmpxe7fu0cj_hp_relaxed.owl Trunk ataxia|Instability or lack of coordination of central trunk muscles UMLS:C0427190|SNOMEDCT_US:250067008|MSH:D001259 Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support. HP:0007014 human_phenotype owl:Class CHEBI:28159 biolink:NamedThing D-asparagine An optically active form of asparagine having D-configuration. tmpxe7fu0cj_hp_relaxed.owl D-Asparagine|D-2-aminosuccinamic acid|D-Asparagin|D-aspartic acid beta-amide|D-asparagine|(2R)-2,4-diamino-4-oxobutanoic acid|(R)-2-amino-3-carbamoylpropanoic acid|DSG|(2R)-2-amino-3-carbamoylpropanoic acid 0 C4H8N2O3 InChI=1S/C4H8N2O3/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H2,6,7)(H,8,9)/t2-/m1/s1 DCXYFEDJOCDNAF-UWTATZPHSA-N 132.119 132.05349 OC([C@@H](CC(N)=O)N)=O PDBeChem:DSG|Beilstein:1723526|Reaxys:1723526|PMID:767332|Patent:CN101333175|HMDB:HMDB0033780|YMDB:YMDB00849|Gmelin:101784|CAS:2058-58-4|DrugBank:DB03943|MetaCyc:CPD-3633|KEGG:C01905 CHEBI:4107|CHEBI:20918 chebi_ontology owl:Class UBERON:0003852 biolink:NamedThing rhombencephalon neural crest A neural crest that has_potential_to_developmentally_contribute_to a hindbrain. tmpxe7fu0cj_hp_relaxed.owl rhombencephalic neural crest|neural crest hindbrain|rhombomere neural crest ZFA:0007063|VHOG:0001210|EHDAA2:0001628|TAO:0007063|EHDAA:362|EMAPA:35747 uberon owl:Class Cranial neural crest that is part of the hindbrain.[TAO] We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] UBERON:0003099 biolink:NamedThing cranial neural crest Neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage. tmpxe7fu0cj_hp_relaxed.owl CNC|crista neuralis cranialis|head NCC population|cephalic neural crest|head neural crest|cranial NCC population|head crest EHDAA2:0004420|VHOG:0000063|TAO:0001194|AAO:0010580|Wikipedia:Cranial_neural_crest|EMAPA:16091|ZFA:0001194|XAO:0001001|EFO:0003645 uberon owl:Class Anterior most portion of the neural crest. Migrates in three highly conserved streams: mandibular, hyoid and branchial.[AAO]|Neural crest that is part of the head.[TAO] We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] HP:3000034 biolink:NamedThing Abnormality nasal septum cartilage morphology An abnormality of a cartilage of nasal septum. tmpxe7fu0cj_hp_relaxed.owl Deformity of cartilage of nasal septum|Malformation of cartilage of nasal septum|Abnormality of cartilage of septum of nose|Anomaly of cartilage of nasal septum|Abnormality of cartilage of nasal septum UMLS:C4073242 vasilevs 2015-08-07T00:27:26Z owl:Class HP:0000419 biolink:NamedThing Abnormality of the nasal septum An abnormality of the nasal septum. tmpxe7fu0cj_hp_relaxed.owl Anomaly of septum of nose|Abnormality of septum of nose|Anomaly of nasal septum|Abnormality of the nasal septum UMLS:C0151790|SNOMEDCT_US:95433000 human_phenotype owl:Class HP:0410133 biolink:NamedThing Chronic idiopathic urticaria Urticaria characterized by spontaneously recurring hives for 6 weeks or longer. tmpxe7fu0cj_hp_relaxed.owl CIU|Chronic spontaneous urticaria|CSU 2018-03-02 19:33:51+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0001025 biolink:NamedThing Urticaria Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. tmpxe7fu0cj_hp_relaxed.owl Hives MEDDRA:10046735|SNOMEDCT_US:247472004|SNOMEDCT_US:64305001|UMLS:C0042109|MSH:D014581|SNOMEDCT_US:126485001 owl:Class HP:0000108 biolink:NamedThing Renal corticomedullary cysts The presence of multiple cysts at the border between the renal cortex and medulla. tmpxe7fu0cj_hp_relaxed.owl Renal corticomedullary cystic disease|Corticomedullary renal cysts UMLS:C1968619 human_phenotype owl:Class HP:0002929 biolink:NamedThing Leydig cell insensitivity to gonadotropin tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025668 owl:Class HP:0033761 biolink:NamedThing Xanthogranulomatous pyelonephritis Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells. tmpxe7fu0cj_hp_relaxed.owl 2021-04-30 11:02:02+00:00 Xanthogranulomatous pyelonephritis is an uncommon chronic destructive granulomatous process of renal parenchyma in association with long-term urinary tract obstruction and infection. peter owl:Class HP:0030065 biolink:NamedThing Primitive neuroectodermal tumor A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation. tmpxe7fu0cj_hp_relaxed.owl Primitive neuroectodermal tumour SNOMEDCT_US:699028006|UMLS:C0206663|SNOMEDCT_US:39781001|MSH:D018242|SNOMEDCT_US:55045006 owl:Class HP:0009343 biolink:NamedThing Small epiphysis of the distal phalanx of the 3rd finger Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of the outermost long bone of the middle finger UMLS:C4024424 doelkens 2009-01-12T11:18:33Z human_phenotype owl:Class HP:0000126 biolink:NamedThing Hydronephrosis Severe distention of the kidney with dilation of the renal pelvis and calices. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:43064006|Fyler:4502|MSH:D006869|UMLS:C0020295 Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed. human_phenotype owl:Class HP:0010946 biolink:NamedThing Dilatation of the renal pelvis The presence of dilatation of the renal pelvis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1868864 peter 2011-01-16T03:39:20Z human_phenotype owl:Class UBERON:0006905 biolink:NamedThing mandibular process mesenchyme Mesenchyme that is part of a mandibular prominence. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of mandibular process|mesenchyme of mandibular prominence EHDAA:5873|EMAPA:17357|EHDAA:5861|EHDAA2:0001062 uberon owl:Class GO:0002708 biolink:NamedThing positive regulation of lymphocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of lymphocyte mediated immunity. tmpxe7fu0cj_hp_relaxed.owl up-regulation of lymphocyte mediated immunity|activation of lymphocyte mediated immunity|stimulation of lymphocyte mediated immunity|upregulation of lymphocyte mediated immunity|up regulation of lymphocyte mediated immunity biological_process owl:Class GO:1902339 biolink:NamedThing positive regulation of apoptotic process involved in morphogenesis Any process that activates or increases the frequency, rate or extent of apoptotic process involved in morphogenesis. tmpxe7fu0cj_hp_relaxed.owl up-regulation of apoptotic process involved in morphogenesis|positive regulation of apoptosis involved in development|activation of apoptosis involved in development|up regulation of apoptosis involved in morphogenesis|upregulation of apoptosis involved in development|upregulation of apoptosis involved in morphogenesis|up-regulation of apoptosis involved in morphogenesis|activation of apoptosis involved in morphogenesis|upregulation of morphogenetic apoptosis|up regulation of morphogenetic apoptosis|up regulation of apoptotic process involved in morphogenesis|positive regulation of apoptosis involved in morphogenesis|activation of apoptotic process involved in morphogenesis|activation of morphogenetic apoptosis|upregulation of apoptotic process involved in morphogenesis|up-regulation of apoptosis involved in development|positive regulation of morphogenetic apoptosis|up regulation of apoptosis involved in development|up-regulation of morphogenetic apoptosis sart 2013-07-29T15:03:33Z biological_process owl:Class UBERON:0018112 biolink:NamedThing rectum smooth muscle tissue Any portion of smooth muscle tissue that is part of the rectum. tmpxe7fu0cj_hp_relaxed.owl rectum smooth muscle|rectal smooth muscle tissue|smooth muscle of rectum uberon owl:Class UBERON:0004231 biolink:NamedThing anal region smooth muscle A portion of smooth muscle tissue that is part of an anal region [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl involuntary muscle of anal region|anal region non-striated muscle|anal part of perineum smooth muscle tissue|smooth muscle tissue of anal triangle|non-striated muscle of anal triangle|anal region smooth muscle tissue|anal part of perineum non-striated muscle|anal triangle smooth muscle|smooth muscle tissue of anal part of perineum|smooth muscle of anal part of perineum|anal part of perineum involuntary muscle|smooth muscle of anal triangle|non-striated muscle of anal region|anal region involuntary muscle|non-striated muscle of anal part of perineum|anal part of perineum smooth muscle|smooth muscle of anal region|anal triangle involuntary muscle|anal triangle non-striated muscle|involuntary muscle of anal part of perineum|smooth muscle tissue of anal region|involuntary muscle of anal triangle|anal triangle smooth muscle tissue MA:0001532|EMAPA:37394 uberon owl:Class UBERON:0000007 biolink:NamedThing pituitary gland The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]. tmpxe7fu0cj_hp_relaxed.owl hypophysis cerebri|pituitary body|hypophysis|pituitary|glandula pituitaria|Hp EMAPA:35998|DHBA:10505|BIRNLEX:1353|VHOG:0000143|MESH:D010902|CALOHA:TS-0798|NCIT:C12399|EHDAA:4477|XAO:0000017|EHDAA:2183|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=399|TAO:0000118|FMA:13889|MIAA:0000077|OpenCyc:Mx4rv6NQYJwpEbGdrcN5Y29ycA|EV:0100132|AAO:0010536|BM:Die-Hy-HY|MA:0000176|GAID:457|EFO:0000857|MAT:0000077|BAMS:PIT|ZFA:0000118|EHDAA2:0001471|HBA:4634|BAMS:Pit|UMLS:C0032005|BTO:0001073 Terminology note: hypophysis and pituitary gland are often used informally as synonyms, but the hypophysis also includes the small infundibular or pituitary stalk[Neumann 2020] http://upload.wikimedia.org/wikipedia/commons/9/97/Gray1180.png uberon owl:Class An endocrine gland derived from infundibulum of the floor of the diencephalon and an ectodermal dorsal protrusion from the buccal cavity which controls the secretion of many hormones influencing the function of various organs of the body.[AAO]|An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin.[TAO] It (the hypophysis) develops embryonically in all vertebrates from two ectodermal evaginations that meet and unite. (...) A well-developed hypophyseal system with functional connections to the hypothalamus is unique to craniates.[well established][VHOG] The lamprey possesses a distinct pituitary organ and hormones, the ascidian does not show distinct evidence of them [Sower S, Freamat M, Kavanaugh S. The origins of the vertebrate hypothalamic-pituitary-gonadal (HPG) and hypothalamic-pituitary-thyroid (HPT) endocrine systems: new insights from lampreys. Gen Comp Endocrinol 2009;161:20-9] UBERON:0003220 biolink:NamedThing metanephric mesenchyme One of the two embryological structures that give rise to the kidney (the other is the ureteric bud). The metanephric blastema mostly develops into nephrons, but can also form parts of the collecting duct system.[WP]. Metanephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the metanephros[GO]. tmpxe7fu0cj_hp_relaxed.owl metanephric mesoderm|metanephrogenic mesenchyme|metanephros associated mesenchyme|metanephric blastema EHDAA:5021|EHDAA:5915|EHDAA2:0004062|EHDAA:4041|EMAPA:17375|VHOG:0000540 Genes: The positional specification of the metanephrogenic mesenchyme is negatively regulated by Foxc1 and Foxc2. Next the permanent kidney forming metanephrogenic mesenchyme is specified by Hox11 genes. The competence to respond to ureteric bud inducers is regulated by WT1. GDNF secretion restricted to posterior region by Robo2 and Sprouty1. The receptors for GDNF are synthesized in the nephric ducts and later in ureteric buds [ISBN:9780878932504 "Developmental Biology"] uberon owl:Class A mass of intermediate mesodermal cells around the distal end of the ureteric bud that gives rise to nephrons in the metanephric kidney. [TFD][VHOG] When the ureteric buds emerge from the nephric duct, they enter the metanephrogenic mesenchyme. The ureteric buds induce this mesenchymal tissue to condense around them and differentiate into the nephrons of the mammalian kidney. As this mesenchyme differentiates, it tells the ureteric bud to branch and grow.[well established][VHOG] HP:0000473 biolink:NamedThing Torticollis Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. tmpxe7fu0cj_hp_relaxed.owl Loxia|Wry neck|Cervical dystonia|Spasmodic torticollis SNOMEDCT_US:74333002|UMLS:C0152116|SNOMEDCT_US:70070008|SNOMEDCT_US:270476009|UMLS:C0949445|UMLS:C0040485|MSH:D014103 The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia. owl:Class UBERON:0000459 biolink:NamedThing uterine wall An anatomical wall that is part of a uterus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl uterus wall|anatomical wall of uterus|wall of uterus|uterus anatomical wall FMA:17560|BTO:0003083 uberon owl:Class HP:0009557 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped outermost index finger bone|Absent/small outermost index finger bone UMLS:C4024294 doelkens 2009-01-28T04:16:02Z human_phenotype owl:Class HP:0001930 biolink:NamedThing Nonspherocytic hemolytic anemia tmpxe7fu0cj_hp_relaxed.owl Nonspherocytic hemolytic anaemia UMLS:C4025735 human_phenotype owl:Class UBERON:0036362 biolink:NamedThing wall of anal canal tmpxe7fu0cj_hp_relaxed.owl anal canal wall FMA:15704 uberon owl:Class HP:0030457 biolink:NamedThing Abnormal amplitude of pattern onset/offset visual evoked potentials tmpxe7fu0cj_hp_relaxed.owl Abnormal amplitude of pattern onset/offset VEP UMLS:C4072948 owl:Class HP:0030456 biolink:NamedThing Abnormality of pattern onset/offset visual evoked potentials tmpxe7fu0cj_hp_relaxed.owl Abnormality of pattern onset/offset VEP UMLS:C4072947 owl:Class HP:0009529 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Irregular end part of innermost long bone of index finger UMLS:C4024307 doelkens 2009-01-16T01:12:34Z human_phenotype owl:Class HP:0012113 biolink:NamedThing Abnormal circulating creatine concentration A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells. tmpxe7fu0cj_hp_relaxed.owl Abnormality of creatine metabolism|Creatine metabolism abnormal UMLS:C4020731 hecht 2012-09-16T04:29:41Z human_phenotype owl:Class HP:0032655 biolink:NamedThing Decreased adipose tissue tocopherol level A reduced concentration of tocopherol in fat tissue. tmpxe7fu0cj_hp_relaxed.owl Tocopherols, the major forms of vitamin E, are a group of fat soluble phenolic compounds. About 90 percent of the total body content of tocopherol is found in adipose tissue. Therefore, vitamin E in adipose tissue (AT) has been proposed as a potential indicator of long-term intake of vitamin E. peter owl:Class HP:0033628 biolink:NamedThing Bowel irritability Intermittent abdominal pain with diarrhea and/or constipation. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 23:29:34+00:00 peter owl:Class HP:0012541 biolink:NamedThing Cephalohematoma Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum. tmpxe7fu0cj_hp_relaxed.owl Cephalohaematoma SNOMEDCT_US:83095000|SNOMEDCT_US:206200000|UMLS:C0007722 Cephalohematoma is generally caused by trauma during labor. peter 2013-12-15T10:37:57Z human_phenotype owl:Class UBERON:0034765 biolink:NamedThing glabella skin The zone of skin that overlaps with the glabella region. tmpxe7fu0cj_hp_relaxed.owl glabella uberon owl:Class in humans this area is normally hairless UBERON:0016475 biolink:NamedThing skin of forehead A zone of skin that is part of a forehead. tmpxe7fu0cj_hp_relaxed.owl forehead skin FMA:63883|EMAPA:37952 uberon owl:Class UBERON:8000007 biolink:NamedThing right side of back Right part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. tmpxe7fu0cj_hp_relaxed.owl http://orcid.org/0000-0001-5208-3432 uberon owl:Class UBERON:0001137 biolink:NamedThing dorsum A major subdivision of an organism that is the entire part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. In vertebrares this includes the vertebral column.. tmpxe7fu0cj_hp_relaxed.owl dorsal part of organism|back|back of body proper NCIT:C13062|EFO:0001405|MESH:A01.176|galen:Back|CALOHA:TS-2223|OpenCyc:Mx4rvVkEU5wpEbGdrcN5Y29ycA|SCTID:123961009|BTO:0001713|UMLS:C0004600|Wikipedia:Dorsum_(anatomy)|FMA:14181|GAID:30 http://upload.wikimedia.org/wikipedia/commons/e/ee/432px-Gray-back.PNG uberon owl:Class dorsal In humans, called the back, a large posterior area of the human body, rising from the top of the buttocks to the back of the neck and the shoulders. It is the surface opposite to the chest, its height being defined by the vertebral column (commonly referred to as the spine or backbone) and its breadth being supported by the ribcage and shoulders. The spinal canal runs through the spine and provides nerves to the rest of the body UBERON:0005022 biolink:NamedThing mucosa of nasopharynx A mucosa that is part of a nasopharynx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucosa of organ of nasopharynx|mucosa of organ of nasal part of pharynx|mucosa of rhinopharynx|rhinopharynx mucosa|rhinopharynx mucous membrane|mucous membrane of nasal part of pharynx|mucosa of nasal part of pharynx|rhinopharynx mucosa of organ|nasal part of pharynx mucosa of organ|organ mucosa of rhinopharynx|mucous membrane of rhinopharynx|nasal part of pharynx mucosa|nasal part of pharynx mucous membrane|nasopharynx mucosa of organ|mucosa of organ of rhinopharynx|rhinopharynx organ mucosa|mucous membrane of nasopharynx|organ mucosa of nasal part of pharynx|nasopharynx mucous membrane|nasal part of pharynx organ mucosa|nasopharynx mucosa|organ mucosa of nasopharynx|nasopharynx organ mucosa FMA:54971 uberon owl:Class HP:0012231 biolink:NamedThing Exudative retinal detachment A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium. tmpxe7fu0cj_hp_relaxed.owl Serous retinal detachment SNOMEDCT_US:38599001|UMLS:C0154822 peter 2013-03-31T09:24:20Z human_phenotype owl:Class HP:0004337 biolink:NamedThing Abnormality of amino acid metabolism Abnormality of an amino acid metabolic process. tmpxe7fu0cj_hp_relaxed.owl Amino acid levels abnormal UMLS:C1328440 peter 2008-03-08T07:53:00Z human_phenotype owl:Class GO:0072091 biolink:NamedThing regulation of stem cell proliferation Any process that modulates the frequency, rate or extent of stem cell proliferation. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. tmpxe7fu0cj_hp_relaxed.owl mah 2010-02-08T02:09:03Z biological_process owl:Class UBERON:0005876 biolink:NamedThing undifferentiated genital tubercle The embryonic anlage of the external genitalia, which emerges as paired swellings ventral to the cloacal membrane, is proposed to be derived from all three germ layers, and gives rise to the penis, clitoris, scrotum, labia, and foreskin. tmpxe7fu0cj_hp_relaxed.owl phallic tubercle|tuberculum genitale|genital tubercle|undifferentiated genital tubercle|tuberculum phallicum EHDAA2:0000705|EHDAA:5925|FMA:302888|VHOG:0000583|EMAPA:17382 http://upload.wikimedia.org/wikipedia/commons/d/d6/Gray1119.png uberon owl:Class The eminence in the embryo which develops into the clitoris or penis. [TFD][VHOG]|embryonic anlage of the external genitalia, which emerges as paired swellings ventral to the cloacal membrane, is proposed to be derived from all three germ layers, and gives rise to the penis, clitoris, scrotum, labia, and foreskin; GT development is indistinguishable in male and female mouse embryos until ~E16, when the urethral plate begins to be masculinized to form the penile urethra, marking the beginning of an androgen-dependent phase of sexual differentiation[MP] In mammalian embryos, male and female external genitalia develop from the genital tubercle.[well established][VHOG] todo - add taxon constraints|GT development is indistinguishable in male and female mouse embryos until approximately E16, when the urethral plate begins to be masculinized to form the penile urethra, marking the beginning of an androgen-dependent phase of sexual differentiation[MP:0011771]|All amniotes studied to date initiate external genital development with the formation of paired genital swellings. In mammals, archosaurs, and turtles, these swellings merge to form a single genital tubercle, the precursor of the penis and clitoris[PMID:24960313] we assume the EMAPA class is the undifferentiated form based on TS timings HP:4000067 biolink:NamedThing Iliac artery aneurysm Abnormal outpouching or sac-like dilatation in the iliac artery. tmpxe7fu0cj_hp_relaxed.owl 2021-11-24 01:34:01+00:00 robinp owl:Class HP:4000066 biolink:NamedThing Abnormal iliac artery morphology Any structural anomaly of the iliac artery. tmpxe7fu0cj_hp_relaxed.owl 2021-11-24 01:28:09+00:00 The common iliac artery originates from the aorta and divides into the internal and external iliac arteries, supplying oxygenated blood to the lower extremities (via the external iliac artery), the pelvis and its viscera (via internal iliac artery) as well as the peritoneum, psoas major muscle, ureter, and surrounding tissues. robinp owl:Class HP:0032027 biolink:NamedThing Retinal dots Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. tmpxe7fu0cj_hp_relaxed.owl 2018-09-01 14:43:45+00:00 peter owl:Class UBERON:0009548 biolink:NamedThing hepatic sinusoid of left of lobe of liver A hepatic sinusoid that is part of a left lobe of liver. tmpxe7fu0cj_hp_relaxed.owl left lobe hepatic sinusoids EMAPA:18309|VHOG:0000709|EHDAA2:0001001 uberon owl:Class UBERON:0001281 biolink:NamedThing hepatic sinusoid Wide thin-walled blood vessels in the liver. In mammals they have neither veinous or arterial markers. tmpxe7fu0cj_hp_relaxed.owl hepatic sinusoids|sinusoid of liver|liver hepatic sinusoids|sinusoidal blood vessel of liver|vas capillare sinusoideum|liver sinusoidal blood vessel|liver sinusoid|vas sinusoideum MA:0000367|FMA:17543|UMLS:C0227523|NCIT:C32733|EHDAA2:0000999|EMAPA:17365|VHOG:0000708|ZFA:0005091|TAO:0005091 UBERON:0003275 uberon owl:Class (...) the amphibian liver has characteristics in common with both fish and terrestrial vertebrates. (...) The histological structure of the liver is similar to that in other vertebrates, with hepatocytes arranged in clusters and cords separated by a meshwork of sinusoids and the presence of the traditional triad of portal venule, hepatic arteriole, and bile duct.[well established][VHOG] GO:0021514 biolink:NamedThing ventral spinal cord interneuron differentiation The process in which neuroepithelial cells in the neural tube acquire specialized structural and/or functional features of ventral spinal cord interneurons. Ventral spinal cord interneurons are cells located in the ventral portion of the spinal cord that transmit signals between sensory and motor neurons and are required for reflexive responses. Differentiation includes the processes involved in commitment of a cell to a specific fate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0002419 biolink:NamedThing skin gland A gland that is part of a skin of body [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl skin glands|skin glands set|glandulae cutis|set of skin glands FMA:71878|EMAPA:35774|MA:0000146|SCTID:110485007 check FMA, use plural for now as general class not there uberon owl:Class UBERON:0003297 biolink:NamedThing gland of integumental system A gland that is part of a integumental system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl integumental gland|integumental system gland|integumentary gland EHDAA:6522|EHDAA2:0000837|VHOG:0000654|MA:0000144|EMAPA:17758 uberon owl:Class HP:0031086 biolink:NamedThing Ectopic ovary Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels. tmpxe7fu0cj_hp_relaxed.owl Undescended ovary 2017-05-29 00:18:01+00:00 peter owl:Class HP:0004292 biolink:NamedThing Undermodelled hand bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025364 human_phenotype owl:Class HP:0005922 biolink:NamedThing Abnormal hand morphology Any structural anomaly of the hand. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of hand UMLS:C4025109 This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions. peter 2008-03-27T02:25:00Z HP:0003098 human_phenotype owl:Class GO:0060627 biolink:NamedThing regulation of vesicle-mediated transport Any process that modulates the rate, frequency, or extent of vesicle-mediated transport, the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell. tmpxe7fu0cj_hp_relaxed.owl dph 2009-05-18T02:29:43Z biological_process owl:Class GO:0051962 biolink:NamedThing positive regulation of nervous system development Any process that activates, maintains or increases the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. tmpxe7fu0cj_hp_relaxed.owl up-regulation of nervous system development|up regulation of nervous system development|stimulation of nervous system development|activation of nervous system development|upregulation of nervous system development biological_process owl:Class GO:0010938 biolink:NamedThing cytoplasmic microtubule depolymerization The removal of tubulin heterodimers from one or both ends of a cytoplasmic microtubule. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0004434 biolink:NamedThing Decreased serum complement C8 A reduced level of the complement component C8 in circulation. tmpxe7fu0cj_hp_relaxed.owl C8 deficiency UMLS:C3151082 The eighth component of complement (C8) plays an important role in the function of membrane attack complex (MAC) that is generated on target cells upon activation of the complement system. MAC is generated by sequential addition of C5b, C6, C7, C8, and C9 molecules, which results in the transmembrane pore and eventual cell lysis. Individuals with C8 deficiency tend to have recurrent neisserial infections. peter 2008-03-18T09:53:00Z owl:Class UBERON:0016884 biolink:NamedThing shoulder joint The joint that is formed by the union of the humerus, the scapula (or shoulder blade), and the clavicle (or collarbone). Commonly thought of as a single joint, the shoulder is actually made up of two separate joints - the glenohumeral and acromioclavicular joints. tmpxe7fu0cj_hp_relaxed.owl joint of shoulder region uberon owl:Class HP:0011928 biolink:NamedThing Short proximal phalanx of toe Developmental hypoplasia (shortening) of proximal phalanx of toe. tmpxe7fu0cj_hp_relaxed.owl Short innermost toe bone UMLS:C4023123 peter 2012-06-10T10:06:30Z owl:Class HP:0010184 biolink:NamedThing Abnormality of toe proximal phalanx A morphological anomaly of one or more proximal phalanges of one or more toes. tmpxe7fu0cj_hp_relaxed.owl Abnormal innermost toe bone|Abnormality of the proximal phalanges of the toes UMLS:C4021327 doelkens 2009-05-29T01:51:38Z human_phenotype owl:Class HP:0000860 biolink:NamedThing Parathyroid hypoplasia Developmental hypoplasia of the parathyroid gland. tmpxe7fu0cj_hp_relaxed.owl Small parathyroid glands|Underdeveloped parathyroid glands UMLS:C1389851 human_phenotype owl:Class HP:0011768 biolink:NamedThing Parathyroid dysgenesis Abnormal embryonic development of the parathyroid gland. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023197 peter 2012-04-22T04:20:41Z human_phenotype owl:Class CL:0010004 biolink:NamedThing mononuclear cell of bone marrow A mononuclear cell that is part_of a bone marrow. tmpxe7fu0cj_hp_relaxed.owl bone marrow mononuclear cell GOC:cjm owl:Class HP:0031490 biolink:NamedThing Hemangioma of the lip A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia. tmpxe7fu0cj_hp_relaxed.owl 2017-09-18 00:28:28+00:00 peter owl:Class HP:0033347 biolink:NamedThing Cognitive epileptic aura A purely subjective manifestation of an epileptic seizure pertaining to altered cognition. tmpxe7fu0cj_hp_relaxed.owl 2020-11-30 21:47:36+00:00 peter owl:Class HP:0033346 biolink:NamedThing Psychic epileptic aura Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events. tmpxe7fu0cj_hp_relaxed.owl Psychic aura 2020-11-30 21:09:17+00:00 Events may appear alone or in combination. Included are feelings of depersonalization. These phenomena have subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. peter owl:Class GO:0048240 biolink:NamedThing sperm capacitation tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0048469 biolink:NamedThing cell maturation tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0006921 biolink:NamedThing cellular component disassembly involved in execution phase of apoptosis The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis. tmpxe7fu0cj_hp_relaxed.owl cellular component disassembly involved in apoptosis|disassembly of cell structures|cellular component disassembly involved in apoptotic process biological_process owl:Class CHEBI:35221 biolink:NamedThing antimetabolite A substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization. tmpxe7fu0cj_hp_relaxed.owl antimetabolites|antimetabolite Wikipedia:Antimetabolite chebi_ontology owl:Class HP:0100334 biolink:NamedThing Unilateral cleft palate tmpxe7fu0cj_hp_relaxed.owl Unilateral palatoschisis|One sided cleft palate UMLS:C4022143 doelkens 2010-10-13T04:16:12Z human_phenotype owl:Class HP:0030884 biolink:NamedThing Gastrojejunal tube feeding in infancy Feeding problem necessitating gastrojejunal tube feeding. tmpxe7fu0cj_hp_relaxed.owl Gastro-jejunal tube feeding in infancy UMLS:C4280681 The rationale for gastrojejunal tube feeding is that placing the tip of the tube beyond the ligament of Treitz prevented duodenogastric reflux or gastro-esophageal reflux. Gastrojejunal feeding tubes have since been used in children who are deemed too unfit for antireflux surgery or where fundoplication has failed. owl:Class HP:0008872 biolink:NamedThing Feeding difficulties in infancy Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2674608 HP:0002022|HP:0002568|HP:0002016 human_phenotype owl:Class HP:0100288 biolink:NamedThing EMG: myokymic discharges The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022166 doelkens 2010-08-10T01:12:27Z human_phenotype owl:Class UBERON:0010882 biolink:NamedThing limb bone pre-cartilage condensation A skeletal element that is part of a limb and composed of pre-cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:2001212 biolink:NamedThing regulation of vasculogenesis Any process that modulates the frequency, rate or extent of vasculogenesis. tmpxe7fu0cj_hp_relaxed.owl regulation of vascular morphogenesis yaf 2011-11-15T01:22:31Z biological_process owl:Class HP:0100636 biolink:NamedThing Pulmonary paraglioma A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022004 doelkens 2010-12-29T05:23:34Z human_phenotype owl:Class CHEBI:16670 biolink:NamedThing peptide Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc. tmpxe7fu0cj_hp_relaxed.owl Peptide|peptidos|peptido|peptides|Peptid 0 (C2H2NOR)nC2H3NOR KEGG:C00012 CHEBI:7990|CHEBI:14753|CHEBI:25906 chebi_ontology owl:Class HP:0030453 biolink:NamedThing Abnormal visual electrophysiology tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072945 owl:Class HP:0009339 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 3rd finger Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of the outermost bone of the middle finger UMLS:C4024428 doelkens 2009-01-12T11:18:33Z human_phenotype owl:Class HP:0009414 biolink:NamedThing Fragmentation of the epiphyses of the 3rd finger Fragmented appearance of the epiphyses of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of middle finger bone UMLS:C4024379 doelkens 2009-01-14T02:01:59Z human_phenotype owl:Class HP:0031092 biolink:NamedThing Spindle-shaped finger Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base). tmpxe7fu0cj_hp_relaxed.owl 2017-05-29 01:07:51+00:00 peter owl:Class GO:1902909 biolink:NamedThing negative regulation of melanosome transport Any process that stops, prevents or reduces the frequency, rate or extent of melanosome transport. tmpxe7fu0cj_hp_relaxed.owl downregulation of melanosome transport|inhibition of melanosome transport|down regulation of melanosome transport|down-regulation of melanosome transport als 2014-04-17T11:40:28Z biological_process owl:Class GO:0000096 biolink:NamedThing sulfur amino acid metabolic process The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine. tmpxe7fu0cj_hp_relaxed.owl sulfur amino acid metabolism|sulphur amino acid metabolism|sulphur amino acid metabolic process biological_process owl:Class HP:0031577 biolink:NamedThing Tessier number 5 facial cleft The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium. tmpxe7fu0cj_hp_relaxed.owl 2017-10-14 12:42:32+00:00 peter owl:Class HP:0011059 biolink:NamedThing Localized periodontitis A localized form of periodontitis. tmpxe7fu0cj_hp_relaxed.owl Limited area of gum disease|Localized gum disease|Localized periodontal disease|Localised gum disease|Localised periodontal disease|Localised periodontitis UMLS:C4023559|UMLS:C4280344 peter 2011-03-10T12:26:35Z human_phenotype owl:Class HP:0010134 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the hallux A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024025 doelkens 2009-05-29T01:22:23Z owl:Class HP:0010126 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the hallux In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the innermost bone of the big toe UMLS:C4024033 doelkens 2009-05-29T01:17:54Z human_phenotype owl:Class HP:0011445 biolink:NamedThing Athetoid cerebral palsy A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone. tmpxe7fu0cj_hp_relaxed.owl Dyskinetic cerebral palsy SNOMEDCT_US:75019001|SNOMEDCT_US:230780007|UMLS:C0270742|MSH:D002547 Athetoid cerebral palsy is caused by damage to the basal ganglia. peter 2012-03-18T03:53:04Z human_phenotype owl:Class HP:0005019 biolink:NamedThing Diaphyseal thickening tmpxe7fu0cj_hp_relaxed.owl Thickening of shaft or central part of long bones UMLS:C1835473 human_phenotype owl:Class HP:0410303 biolink:NamedThing Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 22:04:07+00:00 owl:Class GO:0048845 biolink:NamedThing venous blood vessel morphogenesis The process in which the anatomical structures of venous blood vessels are generated and organized. Veins are blood vessels that transport blood from the body and its organs to the heart. tmpxe7fu0cj_hp_relaxed.owl vein morphogenesis|venous morphogenesis biological_process owl:Class GO:0048514 biolink:NamedThing blood vessel morphogenesis The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class PR:000013883 biolink:NamedThing renin An angiotensinogenase that is a translation product of the human REN gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl angiotensinogenase|REN IUPHARobj:2413 Category=gene. protein owl:Class HP:0009716 biolink:NamedThing Subependymal nodules Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968958 peter 2009-01-30T11:57:28Z owl:Class GO:0003414 biolink:NamedThing chondrocyte morphogenesis involved in endochondral bone morphogenesis The process in which the structures of a chondrocyte that will contribute to bone development are generated and organized. tmpxe7fu0cj_hp_relaxed.owl dph 2009-12-22T08:42:55Z biological_process owl:Class UBERON:0006960 biolink:NamedThing ovary stroma The stroma of the ovary is a peculiar soft tissue, abundantly supplied with blood vessels, consisting for the most part of spindle-shaped cells with a small amount of ordinary connective tissue. These cells have been regarded by some anatomists as unstriped muscle cells, which, indeed, they most resemble; by others as connective-tissue cells. On the surface of the organ this tissue is much condensed, and forms a layer composed of short connective-tissue fibers, with fusiform cells between them. The stroma of the ovary may contain interstitial cells resembling those of the testis. tmpxe7fu0cj_hp_relaxed.owl stroma ovarii|ovary stroma|stroma ovarica|stroma of the ovary|ovarian stroma|interstitial tissue of ovary Wikipedia:Stroma_of_ovary|SCTID:259306002|UMLS:C0737271|MA:0002991|FMA:18626|CALOHA:TS-1246|NCIT:C33638|EMAPA:28880 uberon owl:Class HP:0032570 biolink:NamedThing Pontine ischemic lacunes Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons. tmpxe7fu0cj_hp_relaxed.owl Pontine ischaemic lacunes peter owl:Class GO:0002886 biolink:NamedThing regulation of myeloid leukocyte mediated immunity Any process that modulates the frequency, rate, or extent of myeloid leukocyte mediated immunity. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0200125 biolink:NamedThing Mitochondrial respiratory chain defects tmpxe7fu0cj_hp_relaxed.owl UMLS:C2751582 sebastiankohler 2013-06-11T11:22:52Z human_phenotype owl:Class UBERON:0003967 biolink:NamedThing cutaneous elastic tissue The slender connective tissue fiber in the extracellular matrix of skin tissue that is composed of microfibrils and amorphous elastin and is characterized by great elasticity. tmpxe7fu0cj_hp_relaxed.owl cutaneous elastic fiber|dermal elastic fiber EMAPA:37841 uberon owl:Class GO:0002675 biolink:NamedThing positive regulation of acute inflammatory response Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response. tmpxe7fu0cj_hp_relaxed.owl upregulation of acute inflammatory response|stimulation of acute inflammatory response|up regulation of acute inflammatory response|up-regulation of acute inflammatory response|activation of acute inflammatory response biological_process owl:Class GO:0002673 biolink:NamedThing regulation of acute inflammatory response Any process that modulates the frequency, rate, or extent of an acute inflammatory response. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025216 biolink:NamedThing Triggered by heavy meal Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal. tmpxe7fu0cj_hp_relaxed.owl Heavy meal triggered symptoms|Triggered by overeating 2016-12-10 14:01:22+00:00 HPO:probinson owl:Class UBERON:0006356 biolink:NamedThing epigastric vein A vein that drains the anterior abdominal wall. tmpxe7fu0cj_hp_relaxed.owl NCIT:C53045|EMAPA:18759|UMLS:C1707930|MA:0002114 uberon owl:Class GO:0031112 biolink:NamedThing positive regulation of microtubule polymerization or depolymerization Any process that activates or increases the frequency, rate or extent of microtubule polymerization or depolymerization. tmpxe7fu0cj_hp_relaxed.owl activation of microtubule polymerization or depolymerization|upregulation of microtubule polymerization or depolymerization|up-regulation of microtubule polymerization or depolymerization|stimulation of microtubule polymerization or depolymerization|up regulation of microtubule polymerization or depolymerization biological_process owl:Class HP:0001522 biolink:NamedThing Death in infancy Death within the first 24 months of life. tmpxe7fu0cj_hp_relaxed.owl Lethal in infancy|Death in early childhood|Infantile death|Death in infancy UMLS:C1844947|UMLS:C1858430 HP:0003817|HP:0003827|HP:0003823|HP:0003818|HP:0003816 human_phenotype owl:Class HP:0011420 biolink:NamedThing Age of death The age group when the cessation of life happens. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1546180 owl:Class UBERON:0010585 biolink:NamedThing pedal digit phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a pedal digit mesenchyme. tmpxe7fu0cj_hp_relaxed.owl hindlimb phalanx pre-cartilage condensation|hind limb digit phalanx pre-cartilage condensation|foot phalanx pre-cartilage condensation|foot digit phalanx pre-cartilage condensation|pes phalanx pre-cartilage condensation EMAPA:32950|VHOG:0000952 uberon owl:Class GO:0001755 biolink:NamedThing neural crest cell migration The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1904933 biolink:NamedThing regulation of cell proliferation in midbrain Any process that modulates the frequency, rate or extent of cell proliferation in midbrain. tmpxe7fu0cj_hp_relaxed.owl regulation of cell proliferation in mesencephalon|regulation of mesencepahalic cell proliferation bf 2016-02-01T13:16:11Z biological_process owl:Class PATO:0001571 biolink:NamedThing dilated A size quality inhering in a bearer by virtue of the bearer's being made wider or larger in all dimensions. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0012417 biolink:NamedThing Hypocapnia Abnormally reduced blood carbon dioxide (CO2) level. tmpxe7fu0cj_hp_relaxed.owl Hypocarbia|Reduced carbon dioxide in the blood MSH:D016857|SNOMEDCT_US:61031008|UMLS:C0085383 peter 2013-11-10T05:06:10Z human_phenotype owl:Class HP:0500164 biolink:NamedThing Abnormal blood carbon dioxide level An abnormality of carbon dioxide (CO2) in the arterial blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal blood carbon dioxide level|Abnormal CO2 levels in blood 2018-10-17 15:09:16+00:00 owl:Class PATO:0001558 biolink:NamedThing lacking processual parts A quality of a process inhering in a bearer by virtue of the bearer's lacking a processual part as specified by the additional entity. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0001564 biolink:NamedThing extra or missing processual parts A quality of a process inhering in a bearer by virtue of the bearer's processual parts. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0032640 biolink:NamedThing Elevated circulating CCL18 level An increased concentration of C-C motif chemokine ligand 18 in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased C-C motif chemokine ligand 18 concentration peter owl:Class NCBITaxon:2698737 biolink:NamedThing Sar tmpxe7fu0cj_hp_relaxed.owl SAR supergroup GC_ID:1 ncbi_taxonomy owl:Class PR:P01731 biolink:NamedThing T-cell surface glycoprotein CD8 alpha chain (mouse) A T-cell surface glycoprotein CD8 alpha chain that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl T-cell surface glycoprotein Lyt-2 (mouse)|Lyt2|CD8a (mouse)|mCD8A|Lyt-2|Cd8a UniProtKB:P01731 Category=organism-gene. protein owl:Class GO:0070167 biolink:NamedThing regulation of biomineral tissue development Any process that modulates the frequency, rate or extent of biomineral tissue development, the formation of hard tissues that consist mainly of inorganic compounds. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0110149 biolink:NamedThing regulation of biomineralization Any process that modulates the frequency, rate or extent of biomineralization, the formation and deposition of mineral crystals by living organisms. tmpxe7fu0cj_hp_relaxed.owl regulation of biomineral formation|regulation of mineralization|regulation of mineralisation|regulation of biomineralisation kmv 2019-06-10T18:06:59Z biological_process owl:Class GO:1903792 biolink:NamedThing negative regulation of anion transport Any process that stops, prevents or reduces the frequency, rate or extent of anion transport. tmpxe7fu0cj_hp_relaxed.owl down-regulation of anion transport|down regulation of anion transport|inhibition of anion transport|downregulation of anion transport sl 2015-01-12T21:50:20Z biological_process owl:Class GO:0043271 biolink:NamedThing negative regulation of ion transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl inhibition of ion transport|down regulation of ion transport|downregulation of ion transport|down-regulation of ion transport biological_process owl:Class HP:0011847 biolink:NamedThing Giant cell tumor of bone A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. tmpxe7fu0cj_hp_relaxed.owl Giant cell tumour of bone SNOMEDCT_US:57500000|UMLS:C0206638|SNOMEDCT_US:697970009|MSH:D018212 peter 2012-05-09T08:35:52Z human_phenotype owl:Class HP:0005923 biolink:NamedThing Abnormalities of the metaphyses of the hand tmpxe7fu0cj_hp_relaxed.owl Abnormality of the wide portion of the hand bone UMLS:C4025108 peter 2008-03-27T02:27:00Z human_phenotype owl:Class GO:0098813 biolink:NamedThing nuclear chromosome segregation The process in which genetic material, in the form of nuclear chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. Nuclear chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0007059 biolink:NamedThing chromosome segregation The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. tmpxe7fu0cj_hp_relaxed.owl chromosome division|chromosome transmission Wikipedia:Chromosome_segregation biological_process owl:Class GO:1905939 biolink:NamedThing regulation of gonad development Any process that modulates the frequency, rate or extent of gonad development. tmpxe7fu0cj_hp_relaxed.owl regulation of gonadogenesis hbye 2017-02-09T17:01:50Z biological_process owl:Class HP:0000520 biolink:NamedThing Proptosis An eye that is protruding anterior to the plane of the face to a greater extent than is typical. tmpxe7fu0cj_hp_relaxed.owl Prominent eyes|Eyeballs bulging out|Anterior bulging of the globe|Prominent globes|Bulging eye|Ocular proptosis|Anterior bulging of the globe of eye|Protrusio bulbi|Protruding eyes|Exophthalmos UMLS:C0015300|MSH:D005094|UMLS:C1862425|UMLS:C1848490|UMLS:C1837760|SNOMEDCT_US:18265008 Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. HP:0007711|HP:0000645|HP:0000536|HP:0007870|HP:0000644 human_phenotype owl:Class UBERON:0014792 biolink:NamedThing musculature of pelvic complex Any collection of muscles that is part of a pelvic complex. The pelvic complex comprises the pelvic girdle and the associated limb or fin. tmpxe7fu0cj_hp_relaxed.owl muscles of lower limb|musculi membri inferioris|musculature of lower limb FMA:71297|EMAPA:37864 currently defined by location rather than attachment uberon owl:Class UBERON:0009648 biolink:NamedThing eyelid subcutaneous connective tissue An eyelid connective tissue that is part of a hypodermis. tmpxe7fu0cj_hp_relaxed.owl superficial fascia of eyelid NCIT:C49226|MA:0001252|UMLS:C1707991|EMAPA:37533|FMA:63975 uberon owl:Class UBERON:0003581 biolink:NamedThing eyelid connective tissue A portion of connective tissue that is part of a eyelid [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl connective tissue of eyelid|connective tissue of blepharon|blepharon connective tissue MA:0001251|NCIT:C49482|EMAPA:37532|UMLS:C1707989 uberon owl:Class GO:2001141 biolink:NamedThing regulation of RNA biosynthetic process Any process that modulates the frequency, rate or extent of RNA biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl regulation of RNA biosynthesis|regulation of RNA anabolism|regulation of RNA formation|regulation of RNA synthesis dph 2011-10-17T11:36:25Z biological_process owl:Class CHEBI:36586 biolink:NamedThing carbonyl compound Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives. tmpxe7fu0cj_hp_relaxed.owl carbonyl compounds chebi_ontology owl:Class HP:0008026 biolink:NamedThing Horizontal opticokinetic nystagmus tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024754 human_phenotype owl:Class HP:0000666 biolink:NamedThing Horizontal nystagmus Nystagmus consisting of horizontal to-and-fro eye movements. tmpxe7fu0cj_hp_relaxed.owl Nystagmus, horizontal UMLS:C0271385|SNOMEDCT_US:81756001|MSH:D009759 human_phenotype owl:Class HP:0012726 biolink:NamedThing Episodic hypokalemia An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes. tmpxe7fu0cj_hp_relaxed.owl Recurrent low potassium UMLS:C4022754 peter 2014-03-23T02:08:24Z human_phenotype owl:Class HP:0002900 biolink:NamedThing Hypokalemia An abnormally decreased potassium concentration in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood potassium levels UMLS:C0020621|MSH:D007008|SNOMEDCT_US:166690008|SNOMEDCT_US:43339004 human_phenotype owl:Class UBERON:0019231 biolink:NamedThing manual digit 1 or 5 tmpxe7fu0cj_hp_relaxed.owl lateral manual digit|outermost manual digit|outer manual digit|lateral finger uberon https://github.com/obophenotype/uberon/issues/592 owl:Class UBERON:0002389 biolink:NamedThing manual digit A digit that is part of a manus (hand). tmpxe7fu0cj_hp_relaxed.owl digitus manus|digit of hand|hand digit|fore digit|finger|digit of manus|manual digit (phalangeal portion) plus soft tissue|forelimb digit GAID:57|XAO:0003036|OpenCyc:Mx4rvVi_f5wpEbGdrcN5Y29ycA|UMLS:C0016129|galen:Finger|EMAPA:32642|NCIT:C32608|MA:0000041|FMA:9666|BTO:0004669|AAO:0000857|MESH:D005385|NLXANAT:20090602|EHDAA2:0000404 UBERON:0000028 uberon owl:Class One of the fingers of the manus.[AAO] HP:0006278 biolink:NamedThing Ectopic pancreatic tissue The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut. tmpxe7fu0cj_hp_relaxed.owl Abnormal pancreas location UMLS:C0994638|SNOMEDCT_US:264304000 human_phenotype owl:Class CL:0000595 biolink:NamedThing enucleate erythrocyte An erythrocyte lacking a nucleus. tmpxe7fu0cj_hp_relaxed.owl RBC|red blood cell cell owl:Class CL:0000225 biolink:NamedThing anucleate cell A cell that lacks a nucleus. tmpxe7fu0cj_hp_relaxed.owl non-nucleated cell FMA:68647 cell owl:Class UBERON:0011607 biolink:NamedThing hyomandibular cartilage Cartilage form of the hyomandibular element. tmpxe7fu0cj_hp_relaxed.owl symplectic cartilage|hyosymplectic cartilage EFO:0003686|TAO:0001422|ZFA:0001422|VHOG:0000688 uberon owl:Class Pharyngeal arch cartilage that is bilaterally paired and articulates with the chondrocranium dorsally, the opercle bone posteriorly, and the palatoquadrate cartilage anteriorly.[TAO] This structure (the hyomandibular), on ontogenic grounds alone, can be considered homologous with the amphibian and reptilian columella and the mammalian stapes.[well established][VHOG] The stapes is homologous to the hyomandibula. In this ontology, we use the class 'hyomandibular cartilage' generally to include the future stapes, the future hyomandibular bone of teleosts and the unossified cartilage in sharks. UBERON:0011608 biolink:NamedThing hyomandibular element The upper paired deep bone or cartilage of the hyoid region, sometimes taking part in jaw suspension and which supports the opercle. Dorsally it articulates with the otic capsule at the hyomandibular fossa, ventrally with the quadrate and symplectic. In most Teleostei it has a foramen for the hyomandibular branch of the facial nerve (VII). tmpxe7fu0cj_hp_relaxed.owl epihyal|hyomandibula element|hyomandibula|hyomandibula - stapes VHOG:0000688|TAO:0000672 uberon owl:Class Replacement bone that is bilaterally paired and articulates with the neurocranium dorsally and the opercle posteriorly.[TAO] relationship loss: overlaps hyomandibula-metapterygoid joint (TAO:0001979)[TAO]|relationship loss: overlaps quadrate-hyomandibula joint (TAO:0001801)[TAO]|relationship loss: overlaps hyomandibula-opercle joint (TAO:0005265)[TAO]|relationship loss: overlaps preopercle vertical limb-hyomandibula joint (TAO:0005278)[TAO]|relationship loss: overlaps hyomandibular-otic region joint (TAO:0001947)[TAO] This structure (the hyomandibular), on ontogenic grounds alone, can be considered homologous with the amphibian and reptilian columella and the mammalian stapes.[well established][VHOG] In most teleosts, there is a symplectic, and the hyomandibula articulates with it anteroventrally.[TAO] UBERON:0006203 biolink:NamedThing conchal part of pinna tmpxe7fu0cj_hp_relaxed.owl concha auriculae|concha|concha of auricle|concha of pinna NCIT:C32362|FMA:61006|UMLS:C0229316 uberon owl:Class GO:0001573 biolink:NamedThing ganglioside metabolic process The chemical reactions and pathways involving ceramide oligosaccharides carrying in addition to other sugar residues, one or more sialic acid residues. tmpxe7fu0cj_hp_relaxed.owl ganglioside metabolism biological_process owl:Class UBERON:0002191 biolink:NamedThing subiculum Part of the hippocampal formation that is bounded by the entorhinal cortex and area CA1. It is characterized on the CA1 border by an abrupt widening of the pyramidal cell layer. A molecular layer is present that is continuous with that of CA1, although the stratum radiatum is no longer present. The stratum oriens is also not present. adapted from Paxinos, G. The rat central nervous system, 2nd ed, Academic Press, San Diego, 1995, pg. 468). tmpxe7fu0cj_hp_relaxed.owl gyrus parahippocampalis|subiculum hippocampi|subicular cortex|subiculum cornu ammonis BAMS:SUB|BAMS:S|DHBA:10302|MA:0000960|BIRNLEX:1305|PBA:10054|EMAPA:35832|NCIT:C33648|DMBA:16163|MBA:502|PBA:128012354|HBA:12896|DHBA:10301|FMA:74414|UMLS:C0152316|BM:Tel-Cx-SB|BTO:0003087 Hippocampus:(brain).jpg uberon owl:Class subicular The pyramidal neurons in the subiculum exhibit transitions between two modes of action potential output: bursting and single spiking. The transitions between these two modes is thought to be important for routing information out of the hippocampus. It is the site responsible for ictal activity in some cases of human epilepsy. It has also been implicated in working memory and drug addiction.[Wikipedia:Subiculum] in DHBA subicular cortex is divided into subiculum, prosubiculum and supracallosal subiculum|In ABA SUB is part of the retrohippocampal region, along with the entorhinal area. this is in the hippocampal formation but not the hippocampal region HP:0410315 biolink:NamedThing Increased urinary 1-methylhistidine Increased concentration of 1-methylhistidine in the urine. tmpxe7fu0cj_hp_relaxed.owl 1-Methylhistidinuria owl:Class UBERON:0011606 biolink:NamedThing hyomandibular bone Replacement bone that is bilaterally paired and (in teleosts) articulates with the neurocranium dorsally and the opercle posteriorly[TAO,modified]. tmpxe7fu0cj_hp_relaxed.owl hyomandibula|hyomandibular ZFA:0000672|TAO:0000672|VHOG:0000688|EFO:0003556 uberon owl:Class Replacement bone that is bilaterally paired and articulates with the neurocranium dorsally and the opercle posteriorly.[TAO] relationship loss: overlaps hyomandibula-opercle joint (TAO:0005265)[TAO]|relationship loss: overlaps preopercle vertical limb-hyomandibula joint (TAO:0005278)[TAO]|relationship loss: overlaps hyomandibula-metapterygoid joint (TAO:0001979)[TAO]|relationship loss: overlaps hyomandibular-otic region joint (TAO:0001947)[TAO]|relationship loss: overlaps quadrate-hyomandibula joint (TAO:0001801)[TAO] This structure (the hyomandibular), on ontogenic grounds alone, can be considered homologous with the amphibian and reptilian columella and the mammalian stapes.[well established][VHOG] In most teleosts, there is a symplectic, and the hyomandibula articulates with it anteroventrally. UBERON:0005375 biolink:NamedThing spinal cord ventral column The area of white matter of the spinal cord located on either side of the ventral (anterior) medial fissure. tmpxe7fu0cj_hp_relaxed.owl spinal cord anterior column|anterior column|ventral column VHOG:0001622|MA:0002751|EV:0100326 uberon owl:Class The ventral ridge of gray matter in each half of the spinal cord. [TFD][VHOG] in MA, this is a subclass of white matter, but in WP/Gray's, the anterior column is a synonym of the grey matter section. is this the same as funiculus? See lateral column. CL:0000005 biolink:NamedThing fibroblast neural crest derived Any fibroblast that is deriived from the neural crest. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0010380 biolink:NamedThing Abnormality of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the outermost 4th toe bone UMLS:C4023870 doelkens 2009-07-16T11:51:46Z human_phenotype owl:Class HP:0004040 biolink:NamedThing Corner fragments of ulnar metaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025423 human_phenotype owl:Class UBERON:0001271 biolink:NamedThing pelvic girdle region The organism subdivision that includes the pelvic girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. tmpxe7fu0cj_hp_relaxed.owl pelvic girdle|girdle - pelvic NCIT:C33291|UMLS:C0684083|VSAO:0000304|FMA:16581|EMAPA:37862 this class describes the subdivision of the limb/fin, NOT the skeleton within. See also: skeleton of pectoral girdle (UBERON:0007831). See also comments on obo-anatomy mail list. Note that even though the class includes soft tissue it is more restrictive than 'pelvis' which also includes structures in cavities etc. TODO this needs to be better documented uberon owl:Class Subdivision of lower limb or fin which links the limb/fin to the body[FMA,modified]. There is only one instance of the pelvic girdle region per organism.[VSAO] UBERON:0007823 biolink:NamedThing appendage girdle region An organism subdivision that encompasses the region containing the pectoral or pelvic girdle. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). tmpxe7fu0cj_hp_relaxed.owl girdle|limb girdle|fin girdle|fin girdle region|limb girdle region|girdle region FMA:24874|VSAO:0000303|EMAPA:37854 this encompasses non-skeletal tissue UBERON:0007824 uberon owl:Class An organism subdivision that encompasses the region containing the pectoral or pelvic girdle. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). There are only two instances of appendage girdle regions per organism.[VSAO] PR:000001874 biolink:NamedThing KLRB1-like protein A protein that is a translation product of the KLRB1 gene or its closely related paralogs (KLRB1A-F). There are lineage-specific expansions in mouse and rat. tmpxe7fu0cj_hp_relaxed.owl PIRSF:PIRSF038804 Category=family. Requested by=CL. protein owl:Class UBERON:0035295 biolink:NamedThing left ear The organ of hearing located on the left side of the head[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl NCIT:C81259|FMA:53642 uberon owl:Class UBERON:0001690 biolink:NamedThing ear Sense organ in vertebrates that is specialized for the detection of sound, and the maintenance of balance. Includes the outer ear and middle ear, which collect and transmit sound waves; and the inner ear, which contains the organs of balance and (except in fish) hearing. Also includes the pinna, the visible part of the outer ear, present in some mammals. tmpxe7fu0cj_hp_relaxed.owl auditory apparatus|auris AAO:0011014|BTO:0000368|UMLS:C0013443|XAO:0000189|EMAPA:16193|VHOG:0000330|NCIT:C12394|EHDAA2:0000423|BIRNLEX:1062|MIAA:0000138|GAID:62|EV:0100353|EHDAA:502|galen:Ear|MAT:0000138|MESH:D004423|MA:0000236|OpenCyc:Mx4rvViXS5wpEbGdrcN5Y29ycA|CALOHA:TS-1165|OpenCyc:Mx4rvVjL05wpEbGdrcN5Y29ycA|EFO:0000826|FMA:52780|UMLS:C0521421 http://upload.wikimedia.org/wikipedia/commons/b/b8/Ear.jpg uberon owl:Class The organ of hearing and of equilibrium. [TFD][VHOG] Both vertebrate and invertebrate auditory organs are thought to have evolved from primitive mechanosensors, but the nature of the ancestral structure and the evolutionary trajectories followed in distinct animal lineages remain unknown. In particular, we do not know how many types of mechanosensor existed in the protostome-deuterostome ancestor from which insects and vertebrates evolved or whether the PDA had an auditory organ.[well established][VHOG] auricular PATO:0001715 biolink:NamedThing decreased diameter A diameter which is relatively small. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class CL:1000274 biolink:NamedThing trophectodermal cell tmpxe7fu0cj_hp_relaxed.owl trophectoderm cell cell owl:Class GO:1904396 biolink:NamedThing regulation of neuromuscular junction development Any process that modulates the frequency, rate or extent of neuromuscular junction development. tmpxe7fu0cj_hp_relaxed.owl regulation of neuromuscular junction stability|regulation of neuromuscular junction organization|regulation of NMJ stability sl 2015-06-23T19:23:42Z biological_process owl:Class CL:0017502 biolink:NamedThing acidophilic cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. tmpxe7fu0cj_hp_relaxed.owl eosinophilic tmeehan 2009-12-22T04:23:25Z cell owl:Class HP:0001738 biolink:NamedThing Exocrine pancreatic insufficiency Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. tmpxe7fu0cj_hp_relaxed.owl Pancreatic insufficiency|Inability to properly digest food due to lack of pancreatic digestive enzymes SNOMEDCT_US:37992001|MSH:D010188|SNOMEDCT_US:47367009|UMLS:C0267963|UMLS:C0030293 HP:0004508|HP:0002581|HP:0004509 human_phenotype owl:Class HP:0012092 biolink:NamedThing Abnormality of exocrine pancreas physiology A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. tmpxe7fu0cj_hp_relaxed.owl Abnormal exocrine pancreatic function UMLS:C4021103 peter 2012-08-20T09:17:46Z human_phenotype owl:Class HP:0002743 biolink:NamedThing Recurrent enteroviral infections Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025681 human_phenotype owl:Class UBERON:0004894 biolink:NamedThing alveolar wall A wall that contains the alveoli. tmpxe7fu0cj_hp_relaxed.owl alveolus wall|pulmonary interalveolar septum|wall of pulmonary alveolus|pulmonary alveolar wall EMAPA:35120|UMLS:C0225695|MA:0002568|FMA:14117|BTO:0002543|NCIT:C13085 UBERON:0008872 uberon owl:Class part of wall in FMA GO:0060897 biolink:NamedThing neural plate regionalization The pattern specification process that results in the subdivision of an axis or axes of the neural plate in space to define an area or volume in which specific patterns of cell differentiation will take place or in which cells interpret a specific environment. tmpxe7fu0cj_hp_relaxed.owl dph 2009-08-13T02:09:04Z biological_process owl:Class GO:0060896 biolink:NamedThing neural plate pattern specification The developmental process that results in the creation of defined areas or spaces within the neural plate to which cells respond and eventually are instructed to differentiate. tmpxe7fu0cj_hp_relaxed.owl dph 2009-08-13T02:06:27Z biological_process owl:Class UBERON:0001089 biolink:NamedThing sweat Secretion produced by a sweat gland. tmpxe7fu0cj_hp_relaxed.owl skin exudate NCIT:C13280|OpenCyc:Mx4rvVjJtZwpEbGdrcN5Y29ycA|ENVO:02000025|FMA:12275|UMLS:C0038984|MESH:D013542|MA:0002539|BTO:0001254|GAID:1172 uberon owl:Class HP:0009125 biolink:NamedThing Lipodystrophy Degenerative changes of the fat tissue. tmpxe7fu0cj_hp_relaxed.owl Inability to make and keep healthy fat tissue UMLS:C0023787|MSH:D008060|SNOMEDCT_US:71325002 peter 2008-04-05T11:40:00Z human_phenotype owl:Class HP:0009124 biolink:NamedThing Abnormal adipose tissue morphology An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. tmpxe7fu0cj_hp_relaxed.owl Abnormality of fat tissue|Abnormality of adipose tissue|Abnormality of fatty tissue UMLS:C4021524 peter 2008-04-05T11:40:00Z human_phenotype owl:Class GO:1903701 biolink:NamedThing substantia propria of cornea development The process whose specific outcome is the progression of a substantia propria of cornea over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl substantia propria development|stroma of cornea development|corneal stroma development cls 2014-12-03T13:12:09Z biological_process owl:Class HP:0000796 biolink:NamedThing Urethral obstruction Obstruction of the flow of urine through the urethra. tmpxe7fu0cj_hp_relaxed.owl MSH:D014524|SNOMEDCT_US:95588004|UMLS:C0041972 human_phenotype owl:Class UBERON:0015851 biolink:NamedThing upper right incisor tusk tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0001612 biolink:NamedThing Weak cry tmpxe7fu0cj_hp_relaxed.owl UMLS:C0234860|SNOMEDCT_US:2120003 human_phenotype owl:Class HP:0025429 biolink:NamedThing Abnormal cry Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 12:56:52+00:00 HPO:probinson owl:Class HP:0005406 biolink:NamedThing Recurrent bacterial skin infections Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. tmpxe7fu0cj_hp_relaxed.owl Recurrent episodes of infectious dermatitis|Recurrent bacterial skin infections|Recurrent cutaneous pyogenic infections|Recurrent pyogenic skin infections|Recurrent episodes of impetigo UMLS:C1835686 Infectious dermatitis may manifest as impetigo, multiple purulent blisters, erythema, lymphadenopathy near the site of infection. HP:0000983 human_phenotype owl:Class HP:0002761 biolink:NamedThing Generalized joint laxity Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. tmpxe7fu0cj_hp_relaxed.owl Hypermobility of all joints|Joint laxity, generalized|Generalised joint laxity|Joint laxity, generalised UMLS:C1836308 human_phenotype owl:Class HP:0001388 biolink:NamedThing Joint laxity Lack of stability of a joint. tmpxe7fu0cj_hp_relaxed.owl Loosejointedness|Ligamentous laxity|Hyperlaxity|Joint ligamentous laxity|Joint instability|Lax joints|Loose-jointedness SNOMEDCT_US:298203008|MSH:D007593|SNOMEDCT_US:27911000|UMLS:C0158359|UMLS:C0086437 Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles. HP:0001380|HP:0002771|HP:0001383 human_phenotype owl:Class PATO:0000440 biolink:NamedThing regular spatial pattern A pattern quality inhering in a bearer by virtue of the bearer's having a repeatable or predictable placement. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0025214 biolink:NamedThing Triggered by heat Applies to a sign or symptom that is provoked or brought about by exposure to heat. tmpxe7fu0cj_hp_relaxed.owl Triggered by heat|Heat triggered symptoms 2016-12-10 13:59:21+00:00 HPO:probinson owl:Class HP:0010487 biolink:NamedThing Small hypothenar eminence Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence. tmpxe7fu0cj_hp_relaxed.owl Hypothenar hypoplasia|Hypoplasia of the hypothenar eminence UMLS:C1861395 peter 2009-09-16T10:40:18Z HP:0005721 human_phenotype owl:Class HP:0010486 biolink:NamedThing Abnormality of the hypothenar eminence An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023807 peter 2009-09-16T10:38:43Z human_phenotype owl:Class GO:0046717 biolink:NamedThing acid secretion The controlled release of acid by a cell or a tissue. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0007605 biolink:NamedThing Excessive wrinkling of palmar skin tmpxe7fu0cj_hp_relaxed.owl Redundant, wrinkled skin of palms UMLS:C4021572 HP:0007531 human_phenotype owl:Class UBERON:0000076 biolink:NamedThing external ectoderm The surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm. tmpxe7fu0cj_hp_relaxed.owl surface (external) ectoderm|surface ectoderm EHDAA:4784|NCIT:C34309|EHDAA:4790|EHDAA:350|EHDAA2:0001968|Wikipedia:External_ectoderm|FMA:87656|EHDAA:1494|EHDAA:7860|UMLS:C1515087|EHDAA:4796|EMAPA:16096 http://upload.wikimedia.org/wikipedia/commons/1/1d/Ectoderm.png merge with non-neural. In vertebrates, the ectoderm has three parts: external ectoderm (also known as surface ectoderm), the neurectoderm (neural crest, and neural tube) uberon owl:Class (or external ectoderm) forms the following structures: Skin Epithelium of the mouth and nasal cavity saliavary glands, and glands of mouth and nasal cavity Enamel - as a side note dentin and dental pulp are formed from ectomesenchyme which is derived from ectoderm Epithelium of pineal and pituitary glands Lens and cornea of the eye Apical ectodermal ridge inducing development of the limb buds of the embryo. Sensory receptors in epidermis HP:0006634 biolink:NamedThing Osteosclerosis of ribs Osteosclerosis of ribs (increased density related to increased bone mass). tmpxe7fu0cj_hp_relaxed.owl Increased bone density in ribs UMLS:C4025013 human_phenotype owl:Class HP:0012306 biolink:NamedThing Abnormal rib ossification An anomaly of the process of rib bone formation. tmpxe7fu0cj_hp_relaxed.owl Abnormal maturation of rib bones UMLS:C4022957 peter 2013-08-10T09:31:03Z human_phenotype owl:Class GO:0099170 biolink:NamedThing postsynaptic modulation of chemical synaptic transmission Any process, acting in the postsynapse that results in modulation of chemical synaptic transmission. tmpxe7fu0cj_hp_relaxed.owl dos 2017-09-11T17:09:17Z biological_process owl:Class GO:1902036 biolink:NamedThing regulation of hematopoietic stem cell differentiation Any process that modulates the frequency, rate or extent of hematopoietic stem cell differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of haemopoietic stem cell differentiation|regulation of haematopoietic stem cell differentiation|regulation of hemopoietic stem cell differentiation ss 2013-04-02T05:19:09Z biological_process owl:Class HP:0030583 biolink:NamedThing Pinhole visual acuity 3.0 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073056 owl:Class UBERON:0008884 biolink:NamedThing left putamen A putamen that is part of a left cerebral hemisphere. tmpxe7fu0cj_hp_relaxed.owl HBA:4288|FMA:72829 uberon owl:Class UBERON:0002038 biolink:NamedThing substantia nigra Predominantly gray matter midbrain structure lying dorsal to the crus cerebri and ventral to the midbrain tegmentum. It is divided into a dorsal, cellularly compact region known as the pars compacta and a more ventrally located, containing more loosely packed cells, the pars reticulata. The most lateral region of the reticulata is identified as the pars lateralis (MM). tmpxe7fu0cj_hp_relaxed.owl SN|nucleus pigmentosus subthalamo-peduncularis|nucleus of basis pedunculi|substantia nigra (Soemmerringi)|substancia nigra|Soemmering's substance FMA:67947|DHBA:12251|BTO:0000143|BIRNLEX:789|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=536|UMLS:C0038590|HBA:9072|UMLS:C1269578|BAMS:SN|EMAPA:35835|VHOG:0001573|CALOHA:TS-0990|MAT:0000504|EHDAA2:0004711|EFO:0000922|EV:0100247|GAID:581|MA:0000210|NCIT:C12453|MESH:A08.186.211.132.659.687 http://upload.wikimedia.org/wikipedia/commons/5/5f/Midbraincrosssection.png TODO - In BTO and NIF, part of basal ganglion which is part of telencephalon - but this is inconsistent with being part of midbrain, if these are spatially disjoint, as in ABA uberon owl:Class Subdivision of the midbrain anterior to the midbrain tegmentum which contains darkly pigmented neurons[FMA][FMA:67947]. (...) the substantia nigra first appears in reptiles and is best developed in primates.[well established][VHOG] UBERON:0009661 biolink:NamedThing midbrain nucleus Nucleus located in the midbrain. tmpxe7fu0cj_hp_relaxed.owl TAO:0002209|ZFA:0001665|SCTID:279285003 uberon owl:Class HP:0031136 biolink:NamedThing Decreased acrosin in sperm head A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 15:21:08+00:00 peter owl:Class HP:0100381 biolink:NamedThing Absent middle phalanx of the 3rd toe Developmental aplasia of the middle phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Absent middle bone of the 3rd toe|Aplasia of the middle phalanx of the 3rd toe|Absent middle phalanx of the third toe UMLS:C4021010 human_phenotype owl:Class HP:0410172 biolink:NamedThing Blood xenobiotic The presence of a xenobiotic in blood. tmpxe7fu0cj_hp_relaxed.owl 2018-05-18 18:31:08+00:00 owl:Class GO:0003235 biolink:NamedThing sinus venosus development The progression of the sinus venosus over time, from its formation to the mature structure. The sinus venosus is a heart chamber attached to the atrium on the venous side of the embryonic heart. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T11:12:34Z biological_process owl:Class GO:0003205 biolink:NamedThing cardiac chamber development The progression of a cardiac chamber over time, from its formation to the mature structure. A cardiac chamber is an enclosed cavity within the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T09:11:18Z biological_process owl:Class HP:0011790 biolink:NamedThing Activating thyroid-stimulating hormone receptor defect Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect. tmpxe7fu0cj_hp_relaxed.owl Activating TSHR defect UMLS:C4023188 peter 2012-04-22T06:34:35Z human_phenotype owl:Class HP:0011789 biolink:NamedThing Impaired sensitivity to thyroid stimulating hormone Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH). tmpxe7fu0cj_hp_relaxed.owl Thyroid-stimulating hormone receptor defect|TSHR defect UMLS:C4023189 peter 2012-04-22T06:32:33Z human_phenotype owl:Class HP:0031134 biolink:NamedThing Cor triatrium sinister A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 13:02:05+00:00 peter owl:Class HP:0033710 biolink:NamedThing Rest dyspnea A perception of shortness of breath that occurs independently of exertion. tmpxe7fu0cj_hp_relaxed.owl Dyspnoea at rest|Shortness of breath at rest|Dyspnea at rest|Breathlessness at rest 2021-04-05 14:49:50+00:00 peter owl:Class UBERON:0004489 biolink:NamedThing musculature of manus Any collection of muscles that is part of a manus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl set of muscles of hand|hand musculature|muscle group of hand|musculature of hand FMA:42368 currently defined by location rather than attachment uberon owl:Class HP:0032784 biolink:NamedThing Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032773 biolink:NamedThing Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature. tmpxe7fu0cj_hp_relaxed.owl Includes seizure characterized predominantly by chronotropic features such as bradycardia, tachycardia and asystole as the initial semiological feature. peter owl:Class UBERON:0003721 biolink:NamedThing lingual nerve The lingual nerve is a branch of the mandibular nerve (CN V3), itself a branch of the trigeminal nerve, which supplies sensory innervation to the tongue. It also carries fibers from the facial nerve, which return taste information from the anterior two thirds of the tongue. tmpxe7fu0cj_hp_relaxed.owl trigeminal V nerve lingual branch|lingual branch of trigeminal nerve|trigeminal nerve lingual branch EMAPA:19168|MESH:D008036|BAMS:5lg|Wikipedia:Lingual_nerve|FMA:53218|SCTID:280260006|MA:0001102|GAID:835 uberon owl:Class CHEBI:76971 biolink:NamedThing Escherichia coli metabolite Any bacterial metabolite produced during a metabolic reaction in Escherichia coli. tmpxe7fu0cj_hp_relaxed.owl E.coli metabolites|Escherichia coli metabolites|E.coli metabolite chebi_ontology owl:Class CHEBI:76969 biolink:NamedThing bacterial metabolite Any prokaryotic metabolite produced during a metabolic reaction in bacteria. tmpxe7fu0cj_hp_relaxed.owl CHEBI:76970|CHEBI:75760 chebi_ontology owl:Class HP:0002708 biolink:NamedThing Prominent median palatal raphe Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate. tmpxe7fu0cj_hp_relaxed.owl Prominent medial palatal suture|Prominent central ridge on roof of the mouth|Prominent central palatal ridge UMLS:C1845108 human_phenotype owl:Class HP:0030449 biolink:NamedThing Therapeutic abortion Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice. tmpxe7fu0cj_hp_relaxed.owl MSH:D000032|SNOMEDCT_US:386641000|UMLS:C0000820 owl:Class UBERON:0001090 biolink:NamedThing synovial fluid Joint fluid is a transudate of plasma that is actively secreted by synovial cells. tmpxe7fu0cj_hp_relaxed.owl joint fluid MESH:D013582|BTO:0001339|galen:SynovialFluid|FMA:12277|ENVO:02000039|CALOHA:TS-0996|GAID:265|UMLS:C0039097|MA:0002544|NCIT:C33718|TAO:0005154|Wikipedia:Synovial_fluid|ZFA:0005154 uberon owl:Class Portion of organism substance that is a clear fluid that occupies the space in synovial joints.[TAO] It provides nutrients and lubrication for articular cartilage The fluid contains hyaluronan secreted by fibroblast-like cells in the synovial membrane, lubricin (proteoglycan 4; PRG4) secreted by the surface chondrocytes of the articular cartilage and interstitial fluid filtered from the blood plasma PATO:0055004 biolink:NamedThing decreased rate of occurrence A rate of occurrence that is relatively low. tmpxe7fu0cj_hp_relaxed.owl 2020-08-19 09:24:35+00:00 quality owl:Class HP:0011501 biolink:NamedThing Anterior lenticonus A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:95480008|UMLS:C0344262 peter 2012-04-04T07:54:36Z human_phenotype owl:Class HP:0011725 biolink:NamedThing Chaotic multifocal atrial tachycardia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023218 peter 2012-04-11T09:01:14Z human_phenotype owl:Class HP:0001692 biolink:NamedThing Atrial arrhythmia A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance. tmpxe7fu0cj_hp_relaxed.owl Primary atrial arrhythmia UMLS:C4025755|UMLS:C0085611|SNOMEDCT_US:17366009 human_phenotype owl:Class GO:0010976 biolink:NamedThing positive regulation of neuron projection development Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpxe7fu0cj_hp_relaxed.owl positive regulation of neurite development|positive regulation of neurite formation|positive regulation of neurite biosynthesis|positive regulation of neurite growth tb 2009-06-01T10:46:44Z biological_process owl:Class UBERON:0003592 biolink:NamedThing bronchus connective tissue A portion of connective tissue that is part of a bronchus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl portion of connective tissue of bronchial trunk|textus connectivus of bronchus|connective tissue of bronchi|bronchial trunk connective tissue|bronchial trunk textus connectivus|textus connectivus of bronchi|connective tissue of bronchial trunk|bronchus portion of connective tissue|bronchial mesenchyme|bronchi portion of connective tissue|bronchial connective tissue|bronchial trunk portion of connective tissue|bronchus textus connectivus|portion of connective tissue of bronchi|connective tissue of bronchus|bronchi textus connectivus|textus connectivus of bronchial trunk|bronchi connective tissue|portion of connective tissue of bronchus EMAPA:32690|UMLS:C1707052|MA:0001831|NCIT:C49210|EMAPA:35193 uberon owl:Class UBERON:0011139 biolink:NamedThing synovial limb joint Any synovial joint that is part of a (free) limb. tmpxe7fu0cj_hp_relaxed.owl synovial joint of free limb segment FMA:258776 Most limb joints are synovial, but a few such as the tibiofibular joints are syndesmoses. uberon owl:Class UBERON:0003650 biolink:NamedThing metatarsal bone of digit 1 A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 1. tmpxe7fu0cj_hp_relaxed.owl metatarsal 1|metatarsal bone of foot digit 1|toe 1 metatarsal|metatarsal bone of digit I|hallux metatarsal bone|foot digit 1 metatarsal bone|metatarsal bone of hallux|metatarsal I|metatarsal bone digit 1|hindlimb digit 1 metatarsus|first metatarsal bone|toe 1 metatarsus FMA:24502|NCIT:C52791|AAO:0000925|EMAPA:19123|UMLS:C1708999|MA:0001369 uberon owl:Class The first metatarsal bone is the bone in the body of the foot just behind the big toe. It is remarkable for its great thickness, and is the shortest of the metatarsal bones. The body is strong, and of well-marked prismoid form. The base presents, as a rule, no articular facets on its sides, but occasionally on the lateral side there is an oval facet, by which it articulates with the second metatarsal. Its proximal articular surface is of large size and kidney-shaped; its circumference is grooved, for the tarsometatarsal ligaments, and medially gives insertion to part of the tendon of the Tibialis anterior; its plantar angle presents a rough oval prominence for the insertion of the tendon of the Peronæus longus. The head is large; on its plantar surface are two grooved facets, on which glide sesamoid bones; the facets are separated by a smooth elevation[Wikipedia:First_metatarsal_bone].|Dumb-bell-shaped bone of endochondral origin with cartilaginous epiphyses that articulates with the prepollex and tarsal 1 proximally and with the proximal phalanx of digit I distally.[AAO] 1 GO:0072665 biolink:NamedThing protein localization to vacuole A process in which a protein is transported to, or maintained at, a location in a vacuole. tmpxe7fu0cj_hp_relaxed.owl protein localisation to vacuole mah 2011-02-14T02:55:35Z biological_process owl:Class HP:0030300 biolink:NamedThing 10 pairs of ribs Presence of only 10 (instead of the usual 12) pairs of ribs. tmpxe7fu0cj_hp_relaxed.owl 10 pairs of ribs UMLS:C4022526 owl:Class HP:0000921 biolink:NamedThing Missing ribs A developmental anomaly with absence of one or more ribs. tmpxe7fu0cj_hp_relaxed.owl Absent ribs|Decreased rib number|Missing ribs SNOMEDCT_US:249695006|UMLS:C0426816 HP:0000881|HP:0006627 human_phenotype owl:Class HP:0010148 biolink:NamedThing Triangular epiphysis of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the outermost bone of the big toe UMLS:C4024011 doelkens 2009-05-29T01:22:47Z human_phenotype owl:Class HP:0100173 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the outermost bone of the 4th toe UMLS:C4022248 doelkens 2010-06-24T04:53:36Z human_phenotype owl:Class HP:0002032 biolink:NamedThing Esophageal atresia A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. tmpxe7fu0cj_hp_relaxed.owl Birth defect in which part of oesophagus did not develop|Birth defect in which part of esophagus did not develop UMLS:C0014850|Fyler:4412|SNOMEDCT_US:26179002|MSH:D004933 human_phenotype owl:Class GO:0045836 biolink:NamedThing positive regulation of meiotic nuclear division tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0034721 biolink:NamedThing pharyngeal taste bud A taste bud that is located in the pharynx. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0007819 biolink:NamedThing Presenile cataracts Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. tmpxe7fu0cj_hp_relaxed.owl Presenile cataract SNOMEDCT_US:441622000|UMLS:C0154971 Presenile cataract is rare. Some cases have a hereditary cause; others result from trauma or chromosomal, endocrine, metabolic, or systemic disorders. Many cases are idiopathic. The term 'presenile' is used differently in the literature. The HPO defines it to mean a cataract that is diagnosed after the age of 20 years but before old age. HP:0007848 human_phenotype owl:Class HP:0010381 biolink:NamedThing Abnormality of the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of middle 4th toe bone UMLS:C4023869 doelkens 2009-07-16T11:51:46Z human_phenotype owl:Class HP:0011745 biolink:NamedThing Non-secretory adrenocortical adenoma An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones. tmpxe7fu0cj_hp_relaxed.owl Non-secretory adrenal adenoma UMLS:C4021126 peter 2012-04-21T11:55:18Z human_phenotype owl:Class HP:0008256 biolink:NamedThing Adrenocortical adenoma Adrenocortical adenomas are benign tumors of the adrenal cortex. tmpxe7fu0cj_hp_relaxed.owl Adrenocortical adenomas SNOMEDCT_US:18365006|SNOMEDCT_US:302826002|UMLS:C0206667|SNOMEDCT_US:255036008|MSH:D018246 HP:0008196 human_phenotype owl:Class UBERON:0011004 biolink:NamedThing pharyngeal arch cartilage A cartilage element that is part of a splanchnocranium. tmpxe7fu0cj_hp_relaxed.owl splanchnocranium cartilage|pharyngeal arch cartilages EFO:0003689|ZFA:0001460|TAO:0001460 uberon owl:Class GO:0045828 biolink:NamedThing positive regulation of isoprenoid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid. tmpxe7fu0cj_hp_relaxed.owl up regulation of isoprenoid metabolic process|activation of isoprenoid metabolic process|positive regulation of isoprenoid metabolism|up-regulation of isoprenoid metabolic process|stimulation of isoprenoid metabolic process|upregulation of isoprenoid metabolic process biological_process owl:Class UBERON:0001851 biolink:NamedThing cortex Outermost layer of an organ[WP]. tmpxe7fu0cj_hp_relaxed.owl cortex of organ|cortex EFO:0000383|EHDAA:9344|FMA:61109|galen:Cortex uberon owl:Class cortical this class is used more generically than in FMA, and includes e.g. cortex of hair MPATH:120 biolink:NamedThing ecchymosis A red/purple patch caused by extravasation of blood into the skin. Larger than petechiae. tmpxe7fu0cj_hp_relaxed.owl May also be used for any organ, although more generally used with respect to the skin. mouse_pathology.ontology owl:Class MPATH:119 biolink:NamedThing hemorrhage and non-specified extravasation Abnormal release of whole blood or the cellular component from the circulation. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0030544 biolink:NamedThing Unaided visual acuity 0.9 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073018 owl:Class GO:0060005 biolink:NamedThing vestibular reflex tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0060004 biolink:NamedThing reflex An automatic response to a stimulus beginning with a nerve impulse from a receptor and ending with the action of an effector such as a gland or a muscle. Signaling never reaches a level of consciousness. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Reflex biological_process owl:Class UBERON:0011131 biolink:NamedThing intermetacarpal joint A skeletal joint that connects two adjacent metacarpals[FMA,modified]. tmpxe7fu0cj_hp_relaxed.owl intermetacarpal articulation|intermetacarpal FMA:35288 uberon owl:Class UBERON:0034953 biolink:NamedThing embryonic lymph sac A population of lymphatic endothelial cell precursors that will form the lymph vessels. tmpxe7fu0cj_hp_relaxed.owl primary lymph sac NCIT:C34262 uberon owl:Class HP:0033781 biolink:NamedThing Tapered tooth A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors. tmpxe7fu0cj_hp_relaxed.owl 2021-05-07 10:14:22+00:00 peter owl:Class HP:0011063 biolink:NamedThing Abnormal incisor morphology An abnormality of morphology of the incisor tooth. tmpxe7fu0cj_hp_relaxed.owl Abnormality of shape of incisor|Abnormality of incisor morphology UMLS:C4023555 peter 2011-03-10T02:06:54Z owl:Class HP:0001992 biolink:NamedThing Organic aciduria Excretion of non-amino organic acids in urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0241775 owl:Class HP:0002928 biolink:NamedThing Decreased activity of the pyruvate dehydrogenase complex tmpxe7fu0cj_hp_relaxed.owl Pyruvate dehydrogenase complex deficiency|Decreased activity of the PDH complex UMLS:C1839888 human_phenotype owl:Class CL:0000788 biolink:NamedThing naive B cell A naive B cell is a mature B cell that has the phenotype surface IgD-positive, surface IgM-positive, CD20-positive, CD27-negative and that has not yet been activated by antigen in the periphery. tmpxe7fu0cj_hp_relaxed.owl naive B-lymphocyte|naive B lymphocyte|naive B-cell This cell type is compatible with the HIPC Lyoplate markers for 'naive B cell'. Per DSD: Naive B cells are also reportedly CD10-negative, CD19-positive, CD20-positive, CD21-positive, CD22-positive, CD25-negative, CD27-negative, CD34-negative, CD40-positive, CD43-negative, CD45-positive, CD48-positive, CD53-positive, CD80-negative, CD81-positive, CD84-positive, CD86-negative, CD95-negative, CD138-negative, CD150-positive, CD184/CXCR4-positive, CD185/CXCR5-positive, CD196/CCR6-positive, CD200-positive, CD229-positive, CD243-positive, CD289-positive, CD290-positive, CD352-positive, MHCII/HLA-DR-positive, cadherin 9-positive, and sIgH-positive, Transcription factors: Pax5-positive, ETS1-positive, FOXO1A-positive, KLF4-positive, KLF9-positive, MiTF-positive, OBF1-positive, PLZF-positive, and SpiB-positive. cell owl:Class CL:0000785 biolink:NamedThing mature B cell A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen. tmpxe7fu0cj_hp_relaxed.owl mature B-lymphocyte|mature B lymphocyte|mature B-cell Mature B cells are also reportedly CD10-negative, CD19-positive, CD22-positive, CD34-negative, CD48-positive, CD79a-positive, CD84-positive, CD127-negative, CD352-positive, RAG-negative, TdT-negative, Vpre-B-negative, and pre-BCR-negative. Transcription factors expressed: Pax5-positive. cell owl:Class HP:0040043 biolink:NamedThing Hypoplasia of the eccrine sweat glands tmpxe7fu0cj_hp_relaxed.owl Underdeveloped major sweat glands UMLS:C4022474 HPO:skoehler owl:Class HP:0007592 biolink:NamedThing Aplasia/Hypoplastia of the eccrine sweat glands Absence or developmental hypoplasia of the eccrine sweat glands. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic-absent eccrine sweat glands UMLS:C1844618 human_phenotype owl:Class CHEBI:75768 biolink:NamedThing mammalian metabolite Any animal metabolite produced during a metabolic reaction in mammals. tmpxe7fu0cj_hp_relaxed.owl mammalian metabolites CHEBI:77744|CHEBI:77464 chebi_ontology owl:Class HP:0012488 biolink:NamedThing Intraventricular arachnoid cyst An arachnoid cyst located within the ventricular system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022883 Arachnoid cysts very rarely occur within the ventricular system, where no arachnoid tissue exists. peter 2013-11-29T09:08:46Z owl:Class GO:0023023 biolink:NamedThing MHC protein complex binding Binding to a major histocompatibility complex. tmpxe7fu0cj_hp_relaxed.owl 2010-02-16T09:30:50Z molecular_function owl:Class UBERON:0000998 biolink:NamedThing seminal vesicle Either of a pair of glandular pouches that lie one on either side of the male reproductive tract posterolateral to the urinary bladder and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct. tmpxe7fu0cj_hp_relaxed.owl seminal gland|glandula seminalis|vas efferens|vesicular seminalis|vesicular gland|gonecyst|vesiculae seminales|vesicular glands|glandula vesiculosa|vesicula seminalis|vesiculæ seminales MAT:0000171|EFO:0000986|MA:0000410|OpenCyc:Mx4rwTtRpJwpEbGdrcN5Y29ycA|EMAPA:19180|AAO:0010788|MESH:D012669|FMA:19386|GAID:394|EV:0100106|UMLS:C0036628|CALOHA:TS-0919|NCIT:C12787|MIAA:0000171|BTO:0001234|VHOG:0001379 http://upload.wikimedia.org/wikipedia/commons/d/d1/Male_anatomy_en.svg uberon owl:Class Either of a pair of pouchlike glands situated on each side of the male urinary bladder that secrete seminal fluid and nourish and promote the movement of spermatozoa through the urethra. [TFD][VHOG] (In mammalian testis) Along the way (the sperm travel), three accessory sex glands, the seminal vesicle, prostate, and bulbourethral (Cowper's) gland, respectively, add their secretions as sperm move from the testes to the urethra.[well established][VHOG] The seminal vesicles secrete a significant proportion of the fluid that ultimately becomes semen. Lipofuscin granules from dead epithelial cells give the secretion its yellowish color. About 50-70% of the seminal fluid in humans originates from the seminal vesicles, but is not expelled in the first ejaculate fractions which are dominated by spermatozoa and zinc-rich prostatic fluid. GO:0099547 biolink:NamedThing regulation of translation at synapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the synapse. tmpxe7fu0cj_hp_relaxed.owl Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua. biological_process owl:Class HP:0410132 biolink:NamedThing Increased level of L-pyroglutamic acid in urine An increase in the level of L-pyroglutamic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Elevated urine 5-oxoproline|Increased level of 5-oxo-L-proline in urine 2018-02-22 18:07:36+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0033097 biolink:NamedThing Increased urine proteinogenic amino acid derivative level An elevated urine level of a compound that is derived from an amino acid. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0031406 biolink:NamedThing carboxylic acid binding Binding to a carboxylic acid, an organic acid containing one or more carboxyl (COOH) groups or anions (COO-). tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class GO:0043168 biolink:NamedThing anion binding Binding to an anion, a charged atom or group of atoms with a net negative charge. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class HP:0009582 biolink:NamedThing Bullet-shaped proximal phalanx of the 2nd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped innermost bone of index finger UMLS:C4024280 doelkens 2009-01-28T05:26:39Z human_phenotype owl:Class HP:0009853 biolink:NamedThing Bullet-shaped proximal phalanges of the hand Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped innermost finger bones of the hand UMLS:C4024180 doelkens 2009-03-11T12:16:33Z HP:0009861 human_phenotype owl:Class CL:0011005 biolink:NamedThing GABAergic interneuron An interneuron that uses GABA as a vesicular neurotransmitter. These interneurons are inhibitory tmpxe7fu0cj_hp_relaxed.owl GABAergic inhibitory interneuron The formal and textual definitions of this term will need to be altered if evidence for non-inhibitory GABA-ergic neurons emerges. owl:Class HP:3000023 biolink:NamedThing Abnormality of angular artery An abnormality of the angular artery, the terminal branch of the facial artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073232 vasilevs 2015-08-07T00:15:58Z human_phenotype owl:Class HP:3000024 biolink:NamedThing Abnormal facial artery morphology Any structural abnormality of a facial artery, one of the branches of the external carotid artery. tmpxe7fu0cj_hp_relaxed.owl Abnormality of facial artery UMLS:C4073233 vasilevs 2015-08-07T00:16:03Z human_phenotype owl:Class HP:0008066 biolink:NamedThing Abnormal blistering of the skin The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. tmpxe7fu0cj_hp_relaxed.owl Abnormal blistering of the skin|Blisters|Blister|Skin blisters|Blistering, generalized|Skin bullae|Blistering, generalised UMLS:C2220104|UMLS:C0241054|UMLS:C2132198 A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm. In approaching blistering diseases, there are 3 fundamental criteria to consider: (1) the site or level of the blister (or the lowest level of vesiculation): subcorneal, midepidermis, suprabasal, subepidermal; (2) the findings that implicate the mechanism of blister formation (spongiosis, acantholysis, blistering degeneration, or epidermolysis); and (3) the type of inflammation (neutrophilic, lymphocytic, eosinophilic, mixed), if present. peter 2008-04-02T03:54:00Z HP:0200038|HP:0007467|HP:0007496 owl:Class UBERON:0012320 biolink:NamedThing cervical artery An artery of the neck. tmpxe7fu0cj_hp_relaxed.owl NCIT:C52850|UMLS:C1707349|EMAPA:37075 uberon owl:Class CL:0000226 biolink:NamedThing single nucleate cell A cell with a single nucleus. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class CHEBI:37734 biolink:NamedThing phosphoric ester tmpxe7fu0cj_hp_relaxed.owl CHEBI:26019 chebi_ontology owl:Class HP:0033863 biolink:NamedThing Abnormal cortical peritubular capillary lumen morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 17:44:05+00:00 peter owl:Class HP:0033860 biolink:NamedThing Abnormal cortical peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the cortex of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 17:35:32+00:00 peter owl:Class UBERON:0016887 biolink:NamedThing entire extraembryonic component The part of the conceptus that may be lost before birth or will be discarded at birth, or when the embryo becomes an independent organism. tmpxe7fu0cj_hp_relaxed.owl extraembryonic component|extra-embryonic component EHDAA2:0000003|EMAPA:16042|AEO:0000195 uberon owl:Class HP:0009313 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 4th finger Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the innermost bone of the ring finger UMLS:C4024449 doelkens 2009-01-08T05:11:48Z human_phenotype owl:Class HP:0009406 biolink:NamedThing Patchy sclerosis of 4th finger phalanx Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger. tmpxe7fu0cj_hp_relaxed.owl Patchy sclerosis of the phalanges of the 4th finger|Uneven increase in bone density in ring finger bone UMLS:C4021481 doelkens 2009-01-13T02:37:29Z human_phenotype owl:Class CHEBI:24431 biolink:NamedThing chemical entity A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances. tmpxe7fu0cj_hp_relaxed.owl chemical entity chebi_ontology owl:Class BFO:0000030 biolink:NamedThing object tmpxe7fu0cj_hp_relaxed.owl bfo owl:Class HP:0000150 biolink:NamedThing Gonadoblastoma The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0206661|MSH:D018238|NCIT:C3754|SNOMEDCT_US:74751003 HP:0006745 human_phenotype owl:Class HP:0012483 biolink:NamedThing Abnormal alpha granules Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022886 This feature can be observed by electron microscopy. Alpha granules normally contain a number of proteins including von Willebrand factor, and fibrinogen. peter 2013-11-29T07:44:49Z human_phenotype owl:Class CL:0000123 biolink:NamedThing neuron associated cell (sensu Vertebrata) tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0001712 biolink:NamedThing Left ventricular hypertrophy Enlargement or increased size of the heart left ventricle. tmpxe7fu0cj_hp_relaxed.owl Left ventricular wall hypertrophy|Heart left ventricle hypertrophy MSH:D017379|UMLS:C0149721|Fyler:3608|SNOMEDCT_US:55827005 HP:0005171 owl:Class HP:3000056 biolink:NamedThing Abnormality of artery of lower lip An abnormality of an artery of lower lip. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the inferior labial artery UMLS:C4073264 vasilevs 2015-08-07T03:18:34Z human_phenotype owl:Class HP:0012177 biolink:NamedThing Abnormal natural killer cell physiology A functional anomaly of the natural killer cell. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023012 peter 2013-02-23T10:03:37Z human_phenotype owl:Class HP:0031409 biolink:NamedThing Abnormal lymphocyte physiology Any anomaly of lymphocyte function. tmpxe7fu0cj_hp_relaxed.owl 2017-09-04 12:08:45+00:00 peter owl:Class UBERON:0000085 biolink:NamedThing morula A spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum. tmpxe7fu0cj_hp_relaxed.owl morula (2-16 cells) BTO:0001508|MESH:A16.254.270.550|UMLS:C0026573|NCIT:C34212|EHDAA2:0000005|FMA:292334|GAID:1295 http://upload.wikimedia.org/wikipedia/commons/c/c6/Blastulation.png uberon owl:Class EHDAA2 has embryo starting later HP:0020099 biolink:NamedThing Severe norovirus infection An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 19:02:54+00:00 robinp owl:Class HP:0001877 biolink:NamedThing Abnormal erythrocyte morphology Any structural abnormality of erythrocytes (red-blood cells). tmpxe7fu0cj_hp_relaxed.owl Abnormality of erythroid lineage cell|Abnormality of red blood cells|Abnormality of erythrocytes UMLS:C0391870|UMLS:C4020862|SNOMEDCT_US:12222001 HP:0010973 human_phenotype owl:Class UBERON:0006214 biolink:NamedThing carpus pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a carpal bone. tmpxe7fu0cj_hp_relaxed.owl carpal pre-cartilage condensation EHDAA2:0000222|EMAPA:17724|EHDAA:6324|VHOG:0000955 uberon owl:Class UBERON:0009523 biolink:NamedThing mesenchyme of handplate Mesenchyme that is part of a handplate. tmpxe7fu0cj_hp_relaxed.owl handplate mesenchyme|hand plate mesenchyme EHDAA2:0000731|EMAPA:17457|EMAPA:17248 uberon owl:Class We group two EMAPA classes here but these may need to be separated UBERON:0001040 biolink:NamedThing yolk sac A sac-like expansion of the ventral wall of the intestine, narrowed into a yolk stalk near the body[Hyman's]. Membranous sac attached to an embryo, providing early nourishment in the form of yolk in bony fishes, sharks, reptiles, birds, and primitive mammals. It functions as the developmental circulatory system of the human embryo, before internal circulation begins. In the mouse, the yolk sac is the first site of blood formation, generating primitive macrophages and erythrocytes[WP]. tmpxe7fu0cj_hp_relaxed.owl saccus vitellinus|vesicula umbilicalis VHOG:0000830|EMAPA:16085|MESH:A16.254.403.981|NCIT:C14128|FMA:87180|EHDAA2:0002212|UMLS:C0043425|EHDAA:164|GAID:1301|EFO:0003078|CALOHA:TS-1130|BTO:0001471 http://upload.wikimedia.org/wikipedia/commons/1/17/Gray22.png consider splitting class uberon owl:Class the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo; the yolk that it contains is the site of embryonic hematopoiesis and vitelline circulation is involved in early embryonic circulation; it is the origin of the primordial germ cells|One of the extraembryonic fetal membranes that balloons out from the fetal midgut. [TFD][VHOG] Structures homologous to the four extraembryonic membranes of reptiles and birds appear in mammals: amnion, chorion, yolk sac, and allantois.[well established][VHOG] In therians, a structure homologous to the yolk sac is is present, but contains no yolk platelets. Instead it is filled with fluid [ISBN:0073040584 (Vertebrates, Kardong)] PATO:0001650 biolink:NamedThing increased resistance to A resistance to a stimulus which is relatively high. tmpxe7fu0cj_hp_relaxed.owl increased resistance|high resistance to quality owl:Class PATO:0001178 biolink:NamedThing resistant to A resistance quality inhering in a bearer by virtue of the bearer's resistance to a stimulus. tmpxe7fu0cj_hp_relaxed.owl resistant quality owl:Class UBERON:0003386 biolink:NamedThing smooth muscle of eye Any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi. tmpxe7fu0cj_hp_relaxed.owl ocular smooth muscle EMAPA:18807|MA:0001268 Not clear if we need this and intra-ocular muscle. See issue #331. MA includes ciliary and iris smooth muscle uberon owl:Class UBERON:0005381 biolink:NamedThing dentate gyrus granule cell layer Granule cell layer is also called the DG principal cell layer. This one of the three layers of dentate gyrus that lies deep to the molecular layer and is made of densely packed layer that is four to eight granule cells thick. tmpxe7fu0cj_hp_relaxed.owl DG granule cell layer|granular layer of the dentate gyrus|stratum granulare gyri dentati|dentate gyrus, granule cell layer|granular layer of dentate gyrus EMAPA:35276|BAMS:sg|DMBA:16122|BIRNLEX:4129|BAMS:GrDG|MA:0000946|MBA:632|BAMS:DG-sg|FMA:83146 uberon owl:Class GO:0032098 biolink:NamedThing regulation of appetite Any process which modulates appetite, the desire or physical craving for food. tmpxe7fu0cj_hp_relaxed.owl regulation of hunger biological_process owl:Class HP:0100106 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the outermost bone of the 2nd toe UMLS:C4022315 doelkens 2010-06-24T10:04:20Z human_phenotype owl:Class HsapDv:0000045 biolink:NamedThing prenatal stage Prenatal stage that starts with fertilization and ends at birth. tmpxe7fu0cj_hp_relaxed.owl UBERON:0000068 human_developmental_stage 266.0 owl:Class GO:0086018 biolink:NamedThing SA node cell to atrial cardiac muscle cell signaling Any process that mediates the transfer of information from an SA node cardiomyocyte to an atrial cardiomyocyte. tmpxe7fu0cj_hp_relaxed.owl SAN cardiomyocyte to atrial cardiomyocyte signalling|sinus node cardiomyocyte to atrial cardiomyocyte signalling|SA node cardiomyocyte to atrial cardiomyocyte signalling|SA node cardiac muscle cell to atrial cardiac muscle cell signalling|sinoatrial node cardiomyocyte to atrial cardiomyocyte signalling tb 2011-11-10T09:15:01Z biological_process owl:Class HP:0032446 biolink:NamedThing Pulmonary bulla Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema. tmpxe7fu0cj_hp_relaxed.owl Pulmonary bullae 2019-03-03 17:45:09+00:00 Blebs and bullae are commonly subpleural and are mostly seen in both upper lobes in patients with coexisting centrilobular and paraseptal emphysema. peter owl:Class UBERON:0018576 biolink:NamedThing upper second secondary molar tooth tmpxe7fu0cj_hp_relaxed.owl upper second permanent tooth|maxillary second secondary molar tooth FMA:55812 TODO - tooth numbering nomeculature to be aligned across species uberon owl:Class GO:0019222 biolink:NamedThing regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. tmpxe7fu0cj_hp_relaxed.owl regulation of multicellular organismal metabolic process|regulation of metabolism|regulation of organismal metabolic process GO:0044246 biological_process owl:Class GO:0090461 biolink:NamedThing glutamate homeostasis Any process involved in the maintenance of an internal steady state of glutamate within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl tb 2012-09-24T14:22:02Z biological_process owl:Class GO:1900159 biolink:NamedThing positive regulation of bone mineralization involved in bone maturation Any process that activates or increases the frequency, rate or extent of bone mineralization involved in bone maturation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of bone mineralization involved in bone maturation|upregulation of bone mineralization involved in bone maturation|up regulation of bone mineralization involved in bone maturation|activation of bone mineralization involved in bone maturation vk 2012-03-07T08:55:16Z biological_process owl:Class UBERON:0001263 biolink:NamedThing pancreatic acinus The secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct. tmpxe7fu0cj_hp_relaxed.owl pancreas acinus|acinus pancreaticus|pancreatic acinar|pancreatic acini FMA:16011|EMAPA:35651|UMLS:C0227578|MA:0002417|NCIT:C49268 uberon owl:Class HP:0008554 biolink:NamedThing Cochlear malformation The presence of a malformed cochlea. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1862050 A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two. human_phenotype owl:Class HP:0000375 biolink:NamedThing Abnormal cochlea morphology An abnormality of the cochlea. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cochlea UMLS:C4025858 The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain. human_phenotype owl:Class UBERON:0003361 biolink:NamedThing epithelium of sublingual gland An epithelium that is part of a sublingual gland [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl sublingual duct epithelium|epithelial tissue of sublingual gland|epithelial tissue of Rivinus'gland|sublingual gland epithelial tissue|sublingual gland epithelium|epithelium of Rivinus'gland|ductus sublingualis epithelium|ductus sublingualis epithelial tissue|sublingual gland duct epithelium|Rivinus'gland epithelium|epithelial tissue of ductus sublingualis|Rivinus'gland epithelial tissue|epithelium of ductus sublingualis VHOG:0001098|BTO:0004559|EMAPA:18810 uberon owl:Class UBERON:0013684 biolink:NamedThing right dorsal thalamus A dorsal thalamus that is in_the_right_side_of a diencephalon. tmpxe7fu0cj_hp_relaxed.owl right thalamus FMA:258714 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0000019 biolink:NamedThing camera-type eye An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid. tmpxe7fu0cj_hp_relaxed.owl orbital part of face|camera-type eye plus associated structures|orbital region|eyes|eye|regio orbitalis|vertebrate eye TAO:0000107|UMLS:C1280202|BIRNLEX:1169|VHOG:0000275|XAO:0000179|NCIT:C12401|EHDAA:936|ZFA:0000107|SCTID:181143004|UMLS:C0015392|FMA:54448|OpenCyc:Mx8Ngx4rwKSh9pwpEbGdrcN5Y29ycB4rvVil5pwpEbGdrcN5Y29ycB4rvViTvpwpEbGdrcN5Y29ycA|MA:0000261|BTO:0004688|EMAPA:16198|AAO:0010340|EHDAA2:0000484 uberon owl:Class A cavitated compound organ that transduces light waves into neural signals.[TAO] The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG] FMA distinguishes Eye (subdivision of face) which has its parts an Eyeball (organ), as well as other structures, and the orbit of skull. MA includes eyelid, conjunctiva and lacrimal apparatus as part of MA:eye - consistent with FMA - so we can infer that MA:eye is more like FMA:eye than FMA:eyeball. For other AOs this distinction is less meaningful - e.g. ZFA has no eyelid; XAO has no eyelid, but it has conjuctiva, which is considered part of the xao:eye. GO considers eyelid development part of eye development. See also notes on optic nerve - XAO, AAO and BTO consider this part of the eye. MA considers the eye muscles part of the eye, whereas FMA has a class 'orbital content' for this GO:0003151 biolink:NamedThing outflow tract morphogenesis The process in which the anatomical structures of the outflow tract are generated and organized. The outflow tract is the portion of the heart through which blood flows into the arteries. tmpxe7fu0cj_hp_relaxed.owl tb 2009-09-22T07:59:24Z biological_process owl:Class UBERON:0003427 biolink:NamedThing abdominal fat pad The encapsulated adipose tissue in the abdomen. tmpxe7fu0cj_hp_relaxed.owl abdominal fat depot|fat pad of abdomen|abdomen fat pad EMAPA:36499|MA:0000472 uberon owl:Class UBERON:0004821 biolink:NamedThing pulmonary alveolus epithelium The epithelial layer of the alveoli[MP]. The layer of cells covering the lining of the tiny air sacs at the end of the bronchioles[BTO]. tmpxe7fu0cj_hp_relaxed.owl alveolus epithelial tissue|pulmonary alveolus epithelium|epithelium of pulmonary alveolus|pulmonary alveolar epithelium|epithelial tissue of alveolus|alveolus epithelium|epithelium of alveolus|alveolar epithelium BTO:0003511|FMA:63915|MA:0001771|EMAPA:35121|NCIT:C12867 uberon owl:Class HP:0033745 biolink:NamedThing Dysplasia of the superior cerebellar vermis A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis. tmpxe7fu0cj_hp_relaxed.owl 2021-04-16 21:56:06+00:00 Dysplasia of the superior cerebellar vermis is generally seen in Joubert syndrome. peter owl:Class HP:0000358 biolink:NamedThing Posteriorly rotated ears A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). tmpxe7fu0cj_hp_relaxed.owl Posteriorly-angulated ears|Ears rotated toward back of head|Posteriorly rotated auricles|Posteriorly angulated ears|Ear, posterior angulation, increased|Posteriorly-rotated ears|Posteriorly rotated UMLS:C0431478|SNOMEDCT_US:253251006 Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age. HP:0008535 owl:Class HP:0001102 biolink:NamedThing Angioid streaks of the fundus Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic. tmpxe7fu0cj_hp_relaxed.owl Angioid streaks of the retina|Laquer cracks of the retina|Angioid streaks|Knapp streaks|Angioid streaks, retina MSH:D000793|UMLS:C0002982 Angioid streaks result from breaks in a weakened Bruch's membrane. owl:Class HP:0031720 biolink:NamedThing Simulated distance exotropia Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 13:40:55+00:00 peter owl:Class HP:0031714 biolink:NamedThing Distance exotropia A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 13:25:53+00:00 peter owl:Class UBERON:0000303 biolink:NamedThing adductor longus An adductor muscle that attaches to the hip and femur. In humans, it is a part of the adductor group of the thigh, that as the name suggests adducts the thigh. The adductor longus muscle forms the medial wall of the femoral triangle[WP, generalized]. tmpxe7fu0cj_hp_relaxed.owl adductor longus muscle|long adductor muscle|musculus adductor longus AAO:0010034|FMA:22441|BTO:0000029|EMAPA:36220 http://upload.wikimedia.org/wikipedia/commons/e/e2/Anterior_Hip_Muscles_2.PNG uberon owl:Class Originates on the iliac portion of the ventral iliac rim and inserts on the lateral surface of the M. adductor magnus.[AAO] definition generalized to accommodate AAO class - 'Originates on the iliac portion of the ventral iliac rim and inserts on the lateral surface of the M. adductor magnus.' [AAO:0010034] HP:0000661 biolink:NamedThing Palpebral fissure narrowing on adduction tmpxe7fu0cj_hp_relaxed.owl UMLS:C1846465 human_phenotype owl:Class HP:0000581 biolink:NamedThing Blepharophimosis A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. tmpxe7fu0cj_hp_relaxed.owl Decreased width of palpebral fissure|Narrow opening between the eyelids UMLS:C0005744|MSH:D016569 When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Blepharophimosis is an acknowledged bundled term (short vertical and horizontal distance). When palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Ptosis is the term to be used when the reduction in eyelid opening is not fixed but can be increased actively or passively. Blepharophimosis is often associated with Epicanthus inversus. HP:0000507|HP:0000513 human_phenotype owl:Class CHEBI:33432 biolink:NamedThing monoatomic chlorine tmpxe7fu0cj_hp_relaxed.owl atomic chlorine 0 Cl 35.453 34.96885 chebi_ontology owl:Class HP:0012564 biolink:NamedThing Premature epimetaphyseal fusion in tibia Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022842 peter 2014-01-04T02:07:34Z human_phenotype owl:Class HP:0025414 biolink:NamedThing Pendulous urethral stricture A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 11:17:06+00:00 HPO:probinson owl:Class HP:0012227 biolink:NamedThing Urethral stricture Narrowing of the urethra associated with inflammation or scar tissue. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:236647003|SNOMEDCT_US:76618002|UMLS:C0041974|MSH:D014525 A urethral stricture may result from surgery, disease, or injury. The term should not be used for a congenital narrowing of the urethra (Consider the term Urethral stenosis, HP:0008661). peter 2013-03-30T07:37:46Z human_phenotype owl:Class GO:0031333 biolink:NamedThing negative regulation of protein-containing complex assembly Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly. tmpxe7fu0cj_hp_relaxed.owl downregulation of protein complex assembly|negative regulation of protein complex assembly|inhibition of protein complex assembly|down regulation of protein complex assembly|down-regulation of protein complex assembly biological_process owl:Class HP:0008773 biolink:NamedThing Aplasia/Hypoplasia of the middle ear Aplasia or developmental hypoplasia of all or part of the middle ear. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped middle ear|Hypoplastic/aplastic middle ear structures|Absent/small middle ear|Middle ear hypoplasia/aplasia UMLS:C4021529 peter 2008-04-04T05:47:00Z HP:0008548|HP:0008533 human_phenotype owl:Class HP:0008609 biolink:NamedThing Morphological abnormality of the middle ear An abnormality of the morphology or structure of the middle ear. tmpxe7fu0cj_hp_relaxed.owl Middle ear malformation|Morphological abnormality of the middle ear UMLS:C1857456 human_phenotype owl:Class UBERON:0007098 biolink:NamedThing mandibular neural crest Cranial neural crest that migrates into the mandibular arch. tmpxe7fu0cj_hp_relaxed.owl TAO:0007064|XAO:0000024|ZFA:0007064 uberon owl:Class HP:0002973 biolink:NamedThing Abnormality of the forearm An abnormality of the lower arm. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the forearm UMLS:C4025666 human_phenotype owl:Class GO:0072359 biolink:NamedThing circulatory system development The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. tmpxe7fu0cj_hp_relaxed.owl cardiovascular system development mah 2010-11-16T11:27:39Z GO:0072358 biological_process owl:Class HP:0010247 biolink:NamedThing Bracket epiphyses of the distal phalanges of the hand An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the outermost hand bones UMLS:C4023952 doelkens 2009-07-06T04:23:06Z human_phenotype owl:Class GO:0032024 biolink:NamedThing positive regulation of insulin secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0090277 biolink:NamedThing positive regulation of peptide hormone secretion Any process that increases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. tmpxe7fu0cj_hp_relaxed.owl tb 2010-02-05T02:56:39Z biological_process owl:Class HP:0030487 biolink:NamedThing Abnormal P50/N95 ratio of pattern electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072977 owl:Class HP:0030467 biolink:NamedThing Abnormal pattern electroretinogram An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072957 owl:Class CHEBI:15999 biolink:NamedThing 4-hydroxyphenylpyruvic acid A 2-oxo monocarboxylic acid that is pyruvic acid in which one of the methyl hydrogens is substituted by a 4-hydroxyphenyl group. tmpxe7fu0cj_hp_relaxed.owl p-Hydroxyphenylpyruvic acid|4-hydroxyphenylpyruvic acid|3-(4-hydroxyphenyl)-2-oxopropanoic acid|(p-hydroxyphenyl)pyruvic acid|4-hydroxy alpha-oxobenzenepropanoic acid|3-(p-hydroxyphenyl)-2-oxopropanoic acid|3-(4-hydroxyphenyl)pyruvic acid|3-(4-HYDROXY-PHENYL)PYRUVIC ACID|(4-hydroxyphenyl)pyruvic acid 0 C9H8O4 InChI=1S/C9H8O4/c10-7-3-1-6(2-4-7)5-8(11)9(12)13/h1-4,10H,5H2,(H,12,13) KKADPXVIOXHVKN-UHFFFAOYSA-N 180.159 180.04226 OC(=O)C(=O)CC1=CC=C(O)C=C1 KEGG:C01179|Reaxys:2691632|DrugBank:DB07718|KNApSAcK:C00007512|CAS:156-39-8|PMID:11073718|PDBeChem:ENO|Wikipedia:4-Hydroxyphenylpyruvic_acid|PMID:9106023|HMDB:HMDB0000707|MetaCyc:P-HYDROXY-PHENYLPYRUVATE|Beilstein:2691632 CHEBI:1431|CHEBI:42422|CHEBI:20426 chebi_ontology owl:Class CHEBI:33853 biolink:NamedThing phenols Organic aromatic compounds having one or more hydroxy groups attached to a benzene or other arene ring. tmpxe7fu0cj_hp_relaxed.owl Aryl alcohol|a phenol|arenols|phenols 0 C6HOR5 89.072 89.00274 C1(=C(C(=C(C(=C1*)*)*)*)*)O Wikipedia:Phenols|KEGG:C15584|MetaCyc:Phenols CHEBI:25969|CHEBI:13664|CHEBI:2857|CHEBI:13825 chebi_ontology owl:Class HP:0009706 biolink:NamedThing Synostosis involving the 3rd metacarpal tmpxe7fu0cj_hp_relaxed.owl Fusion involving the 3rd long bone of hand UMLS:C4024227 doelkens 2009-01-30T04:32:03Z human_phenotype owl:Class HP:0010011 biolink:NamedThing Abnormality of the 3rd metacarpal Any abnormality of the third metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the 3rd long bone of hand UMLS:C4024112 doelkens 2009-05-27T03:35:21Z human_phenotype owl:Class GO:0060572 biolink:NamedThing morphogenesis of an epithelial bud The morphogenetic process in which a bud forms from an epithelial sheet. A bud is a protrusion that forms form the sheet by localized folding. tmpxe7fu0cj_hp_relaxed.owl dph 2009-04-30T09:38:35Z biological_process owl:Class HP:0032572 biolink:NamedThing Abnormal urinary nucleobase concentration A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U). tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0005086 biolink:NamedThing hair follicle placode A bud-like thickening in the epidermis consisting of elongated keratinocytes, which at the distal end are in touch with numerous aggregated specialized dermal fibroblasts, the dermal condensate. tmpxe7fu0cj_hp_relaxed.owl hair peg|hair placode|hair germ|hair gem|vibrissa placode EMAPA:36479 uberon owl:Class An hair follicle placode is a thickening of the ectoderm that will give rise to the hair follicle bud[GO]. HGNC:12726 biolink:NamedThing VWF (human) A protein coding gene VWF in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class CL:0002494 biolink:NamedThing cardiocyte A cell located in the heart, including both muscle and non muscle cells. tmpxe7fu0cj_hp_relaxed.owl heart cell BTO:0001539|FMA:83808|CALOHA:TS-0115|FMA:84791 From Onard of the FMA: Cardiac muscle cell or cardiac myocyte is a striated muscle cell. Cardiocyte on the other hand is any cell in the heart which includes cells other than muscle cells (e.g. endothelial cell of endocardium). Unless there is a consensus among anatomists that cardiocytes refer only to muscle cells, we will treat them as a general class of cells in the heart. tmeehan 2010-12-07T09:37:22Z cell owl:Class CHEBI:25481 biolink:NamedThing naphthoquinone A polycyclic aromatic ketone metabolite of naphthalene. tmpxe7fu0cj_hp_relaxed.owl naphthoquinones chebi_ontology owl:Class GO:0048743 biolink:NamedThing positive regulation of skeletal muscle fiber development Any process that activates, maintains or increases the rate of skeletal muscle fiber development. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast. tmpxe7fu0cj_hp_relaxed.owl positive regulation of skeletal muscle fibre development|up-regulation of skeletal muscle fiber development|positive regulation of skeletal myofibre development|up regulation of skeletal muscle fiber development|activation of skeletal muscle fiber development|positive regulation of skeletal myofiber development|stimulation of skeletal muscle fiber development|upregulation of skeletal muscle fiber development biological_process owl:Class GO:0048742 biolink:NamedThing regulation of skeletal muscle fiber development Any process that modulates the frequency, rate or extent of skeletal muscle fiber development. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast. tmpxe7fu0cj_hp_relaxed.owl regulation of skeletal myofibre development|regulation of skeletal myofiber development|regulation of skeletal muscle fibre development biological_process owl:Class HP:0009598 biolink:NamedThing Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal. tmpxe7fu0cj_hp_relaxed.owl Fused innermost bone of index finger with 2nd long bone of hand UMLS:C4024274 doelkens 2009-01-29T10:21:45Z human_phenotype owl:Class HP:0012686 biolink:NamedThing Increased pineal volume An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022779 peter 2014-03-22T01:11:33Z human_phenotype owl:Class HP:0020137 biolink:NamedThing Anticardiolipin IgM antibody positivity The presence of circulating IgM autoantibodies to cardiolipin. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-05 17:41:28+00:00 owl:Class HP:0003613 biolink:NamedThing Antiphospholipid antibody positivity The presence of circulating autoantibodies to phospholipids. tmpxe7fu0cj_hp_relaxed.owl Phospholipid antibody positivity|Antiphospholipid antibody|Antiphospholipid antibodies UMLS:C4019436 This group of autoantibodies comprises anticardiolipin, antiphosphatidylinositol, atiphosphatidylglycerol, and antiphosphatidylserine antibodies. human_phenotype owl:Class CHEBI:39142 biolink:NamedThing Bronsted base A molecular entity capable of accepting a hydron from a donor (Bronsted acid). tmpxe7fu0cj_hp_relaxed.owl hydron acceptor|accepteur d'hydron|Bronsted base|base de Bronsted|Bronsted-Base chebi_ontology owl:Class CHEBI:22695 biolink:NamedThing base A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base). tmpxe7fu0cj_hp_relaxed.owl Base1|bases|Base|base|Base2|Nucleobase|Basen KEGG:C00701 chebi_ontology owl:Class HP:0011201 biolink:NamedThing EEG with changes in voltage EEG with abnormal amplitude. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023473 hecht 2011-11-19T11:20:13Z human_phenotype owl:Class GO:0043176 biolink:NamedThing amine binding Binding to an amine, a weakly basic organic compound that contains an amino or a substituted amino group. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class NCBITaxon:4896 biolink:NamedThing Schizosaccharomyces pombe tmpxe7fu0cj_hp_relaxed.owl fission yeast|Schizosaccharomyces malidevorans GC_ID:1 NCBITaxon:45042 ncbi_taxonomy owl:Class NCBITaxon:4895 biolink:NamedThing Schizosaccharomyces tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0003150 biolink:NamedThing muscular septum morphogenesis The process in which the muscular septum is generated and organized. The muscular septum is the lower part of the ventricular septum. tmpxe7fu0cj_hp_relaxed.owl tb 2009-09-22T07:53:28Z biological_process owl:Class GO:0060415 biolink:NamedThing muscle tissue morphogenesis The process in which the anatomical structures of muscle tissue are generated and organized. Muscle tissue consists of a set of cells that are part of an organ and carry out a contractive function. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0032126 biolink:NamedThing Decreased proportion of unswitched memory B cells A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells. tmpxe7fu0cj_hp_relaxed.owl Reduced proportion of unswitched memory B cells|Decreased proportion of non-class-switched memory B cells 2018-11-22 12:53:34+00:00 peter owl:Class HP:0030374 biolink:NamedThing Decreased proportion of memory B cells A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072913 owl:Class HP:0012006 biolink:NamedThing Jamais vu aura A subjective feeling that an experience which has occurred before is being experienced for the first time. tmpxe7fu0cj_hp_relaxed.owl Jamais vu SNOMEDCT_US:28249008|UMLS:C0233803 hecht 2012-07-20T11:55:38Z owl:Class HP:0012004 biolink:NamedThing Focal cognitive seizure with deja vu/jamais vu A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl Mnemonic aura|Mnemonic auras UMLS:C4023085 See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. hecht 2012-07-20T11:53:39Z HP:0032697 owl:Class GO:0034330 biolink:NamedThing cell junction organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cell junction. A cell junction is a specialized region of connection between two cells or between a cell and the extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl cell junction assembly and maintenance|cell junction organisation|cell junction biogenesis biological_process owl:Class HP:0008117 biolink:NamedThing Shortening of the talar neck tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843985 human_phenotype owl:Class HP:0010495 biolink:NamedThing Amniotic constriction rings of legs Amniotic constriction rings affecting the legs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023804 peter 2009-09-17T11:07:10Z human_phenotype owl:Class GO:1901881 biolink:NamedThing positive regulation of protein depolymerization Any process that activates or increases the frequency, rate or extent of protein depolymerization. tmpxe7fu0cj_hp_relaxed.owl activation of protein polymer catabolic process|activation of protein polymer degradation|upregulation of protein polymer degradation|upregulation of protein depolymerization|up-regulation of protein polymer breakdown|upregulation of protein polymer catabolism|up regulation of protein depolymerization|upregulation of protein polymer breakdown|up-regulation of protein polymer catabolic process|positive regulation of protein polymer catabolism|up-regulation of protein polymer catabolism|up regulation of protein polymer breakdown|positive regulation of protein polymer degradation|up regulation of protein polymer catabolism|up regulation of protein polymer degradation|upregulation of protein polymer catabolic process|activation of protein polymer catabolism|activation of protein polymer breakdown|activation of protein depolymerization|up regulation of protein polymer catabolic process|positive regulation of protein polymer catabolic process|positive regulation of protein polymer breakdown|up-regulation of protein polymer degradation|up-regulation of protein depolymerization rl 2013-02-06T13:57:32Z biological_process owl:Class GO:0051918 biolink:NamedThing negative regulation of fibrinolysis Any process that stops, prevents, or reduces the frequency, rate or extent of fibrinolysis, an ongoing process that solubilizes fibrin, resulting in the removal of small blood clots. tmpxe7fu0cj_hp_relaxed.owl downregulation of fibrinolysis|down regulation of fibrinolysis|down-regulation of fibrinolysis|inhibition of fibrinolysis biological_process owl:Class CHEBI:16336 biolink:NamedThing hyaluronic acid A mucopolysaccharide composed of N-acetylglucosamine and glucuronic acid subunits. It is found in the connective tissues of vertebrates. A principal constituent of the extracellular matrix (ECM), it mediates the growth and metastasis of tumour cells. tmpxe7fu0cj_hp_relaxed.owl Hyaluronic acid|hyaluronan|Hyaluronsaeure|[beta-N-Acetyl-D-glucosaminyl(1,4)beta-D-glucuronosyl(1,3)]n|[beta-D-glucopyranuronosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)]n|acido hialuronico|acide hyaluronique 0 (C14H21NO12)n PMID:18056362|PMID:11122186|KEGG:C00518|Reaxys:8187837|Beilstein:8538277|KEGG:G10505|KEGG:D08043|CAS:9004-61-9|Wikipedia:Hyaluronan|HMDB:HMDB0010366|PMID:18290544 CHEBI:5772|CHEBI:14412|CHEBI:24623|CHEBI:24622 chebi_ontology owl:Class HP:0012694 biolink:NamedThing Enlarged thalamic volume An increase in the quantity of space occupied by the thalamus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022772 peter 2014-03-22T05:47:14Z human_phenotype owl:Class HP:0010648 biolink:NamedThing Dermal translucency An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. tmpxe7fu0cj_hp_relaxed.owl Translucent skin UMLS:C1836646 doelkens 2010-02-23T11:50:37Z human_phenotype owl:Class GO:0010572 biolink:NamedThing positive regulation of platelet activation Any process that increases the rate or frequency of platelet activation. Platelet activation is a series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0015593 biolink:NamedThing frontal gyrus A gyrus that is part of a frontal cortex. tmpxe7fu0cj_hp_relaxed.owl NCIT:C32636 uberon owl:Class NBO:0000308 biolink:NamedThing sensation behavior "Cognitive perception of a sensation by any of the five senses -- vision, touch, smell, taste, and hearing." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl behavior involving perception|perception behavior 2011-04-04T10:00:45Z Example: moving head to watch passing object. George Gkoutos NBO:0000454 behavior_ontology owl:Class HP:0010432 biolink:NamedThing Absent distal phalanx of the 2nd toe Absence of distal phalanx of the second toe as a result of developmental aplasia. tmpxe7fu0cj_hp_relaxed.owl Aplasia of the distal phalanx of the 2nd toe|Absent outermost bone of the 2nd toe|Absent distal phalanx of the second toe UMLS:C4021268 doelkens 2009-07-16T04:28:07Z human_phenotype owl:Class NBO:0000133 biolink:NamedThing liquid preference/aversion tmpxe7fu0cj_hp_relaxed.owl 2011-03-31T12:41:50Z George Gkoutos behavior_ontology owl:Class HP:0003419 biolink:NamedThing Low back pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. tmpxe7fu0cj_hp_relaxed.owl Lower back pain UMLS:C0024031|SNOMEDCT_US:279039007|MSH:D017116 human_phenotype owl:Class UBERON:0010428 biolink:NamedThing flat bone A bone that is shaped as a broad flat plate and composed of two thin layers of compact tissue enclosing between them a variable quantity of cancellous tissue, which is the location of red bone marrow. tmpxe7fu0cj_hp_relaxed.owl os planum NCIT:C32616|FMA:7476|galen:FlatBone|SCTID:332907008|Wikipedia:Flat_bone|UMLS:C0222649 Examples: cranium, the ilium, sternum, rib cage, the sacrum and the scapula; the occipital, parietal, frontal, nasal, lacrimal, vomer, scapula, os coxC&, sternum, and ribs uberon owl:Class In an adult mammal, most red blood cells are formed in flat bones Flat bones are those bones which are found where the principal requirement is either extensive protection or the provision of broad surfaces for muscular attachment HP:0012867 biolink:NamedThing Abnormal sperm mid-piece morphology A structural abnormality of the sperm mid-piece. tmpxe7fu0cj_hp_relaxed.owl Sperm mid-piece anomaly UMLS:C4022700 hecht 2014-06-09T10:50:37Z owl:Class HP:0030264 biolink:NamedThing Webbed penis Ventral skinfold extending from penis to scrotum. tmpxe7fu0cj_hp_relaxed.owl Webbed penis UMLS:C0431670|SNOMEDCT_US:253852007 The distal limit of the skinfold can be located on the penile shaft or the tip of the penis. owl:Class UBERON:0000057 biolink:NamedThing urethra The fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening. tmpxe7fu0cj_hp_relaxed.owl BTO:0001426|galen:Urethra|VHOG:0001264|MA:0000379|EFO:0000931|FMA:19667|MIAA:0000121|XAO:0000153|UMLS:C0041967|GAID:390|CALOHA:TS-1132|OpenCyc:Mx4rvVjkypwpEbGdrcN5Y29ycA|EMAPA:30901|NCIT:C12417|EV:0100099|MAT:0000121|MESH:D014521 Female:anatomy.png uberon owl:Class urethral In human males, the urethra travels through the penis, and carries semen as well as urine. In females, the urethra is shorter and emerges above the vaginal opening. UBERON:0000083 biolink:NamedThing mesonephric tubule A mesonephric tubule is an epithelial tube that is part of the mesonephros[GO]. Genital ridge that is next to the mesonephros[WP]. tmpxe7fu0cj_hp_relaxed.owl tubuli mesonephrici|renal tubules XAO:0000148|AAO:0010389|EMAPA:16747|EHDAA2:0001134|VHOG:0000500 TODO check uberon owl:Class Any of the renal tubules composing the mesonephros. In mammals they function as excretory structures during the early embryonic development but are later incorporated into the reproductive system. [TFD][VHOG] As the pronephros regresses, the archinephric duct induces the sequential differentiation of tubules in the more caudal parts of the nephric ridge. (...) Tubules that differentiate in the middle part of the nephric ridge form a kidney called the mesonephros. This kidney functions in the embryos and larvae of all vertebrates.[well established][VHOG] UBERON:0003914 biolink:NamedThing epithelial tube Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. tmpxe7fu0cj_hp_relaxed.owl epithelial or endothelial tube AEO:0000114|EHDAA2:0003114|FBbt:00007474 contrast with a multi-tissue tube, which has as parts both epithelium, connective tissue, possibly muscle layers uberon owl:Class HP:0040295 biolink:NamedThing Duplication of the upper lip tmpxe7fu0cj_hp_relaxed.owl Double upper lip owl:Class UBERON:0004646 biolink:NamedThing infraorbital artery The infraorbital artery is an artery in the head that runs in the maxilla, emerging through the infraorbital foramen, just under the orbit of the eye. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl a. infraorbitalis|infra-orbital artery MA:0001977|FMA:49767|EMAPA:37090|NCIT:C52940|UMLS:C0226153 http://upload.wikimedia.org/wikipedia/commons/a/aa/Gray511.png uberon owl:Class PATO:0000082 biolink:NamedThing persistence A rhythm quality inhering in a bearer by virtue of the repetitiveness of bearer's rhythm. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0000078 biolink:NamedThing rhythm quality A quality of a single process inhering in a bearer by virtue of the bearer's movement or variation characterized by the regular recurrence or alternation of different quantities or conditions. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class UBERON:0014675 biolink:NamedThing distal interphalangeal joint of pedal digit 5 tmpxe7fu0cj_hp_relaxed.owl distal interphalangeal joint of little toe|distal interphalangeal joint of fifth toe|distal interphalangeal joint of fifth digit of foot|distal interphalangeal joint of pedal digit V FMA:35393 uberon owl:Class HP:0007188 biolink:NamedThing Congenital facial diplegia Facial diplegia (that is, bilateral facial palsy) with congenital onset. tmpxe7fu0cj_hp_relaxed.owl Congenital bilateral facial weakness|Congenital bilateral facial palsy MSH:C531747|UMLS:C0853240 human_phenotype owl:Class HP:0001349 biolink:NamedThing Facial diplegia Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). tmpxe7fu0cj_hp_relaxed.owl Facial paresis, bilateral|Bilateral facial weakness UMLS:C1836003 HP:0007085|HP:0005334 human_phenotype owl:Class UBERON:0013508 biolink:NamedThing thoracic vertebra pre-cartilage condensation A thoracic vertebra endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0011095 biolink:NamedThing vertebra pre-cartilage condensation The pre-cartilaginous form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl vertebral pre-cartilage condensation VHOG:0000582|EMAPA:32671 uberon owl:Class HP:0006711 biolink:NamedThing Aplasia/Hypoplasia involving bones of the thorax tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped thorax bone|Absent/small outermost thorax bone UMLS:C4024992 peter 2008-03-29T03:53:00Z human_phenotype owl:Class CL:0000322 biolink:NamedThing pneumocyte An epithelial cell that lines the peripheral gas exchange region of the lungs of air-breathing vertebrates. tmpxe7fu0cj_hp_relaxed.owl pneumonocyte|alveolar epithelial cell CALOHA:TS-2168|BTO:0000395|FMA:62499 cell owl:Class CL:0010003 biolink:NamedThing epithelial cell of alveolus of lung An epithelial cell that is part_of a alveolus of lung. tmpxe7fu0cj_hp_relaxed.owl alveolus of lung epithelial cell May be merged with pneumocyte in future GOC:cjm owl:Class HP:0000095 biolink:NamedThing Abnormal renal glomerulus morphology A structural anomaly of the glomerulus. tmpxe7fu0cj_hp_relaxed.owl Morphologic abnormality of the renal glomerulus|Abnormality of renal glomerulus morphology UMLS:C4025889 Each human kidney contains approximately one million nephrons. The glomerulus is the most proximal component of the nephron. The glomerulus of the mammalian kidney is a highly developed vascular bed that acts as a filter, allowing a filtrate of small molecules, such as water, sugars, electrolytes and small proteins, to pass through a barrier that retains high molecular weight proteins and cells in the circulation. owl:Class CHEBI:65255 biolink:NamedThing food preservative Substances which are added to food in order to prevent decomposition caused by microbial growth or by undesirable chemical changes. tmpxe7fu0cj_hp_relaxed.owl food preservatives chebi_ontology owl:Class CHEBI:64047 biolink:NamedThing food additive Any substance which is added to food to preserve or enhance its flavour and/or appearance. tmpxe7fu0cj_hp_relaxed.owl food additives Wikipedia:Food_additive chebi_ontology owl:Class UBERON:0010225 biolink:NamedThing thalamic complex A nuclear complex which in mammals consists of four parts, the hypothalamus, epithalamus, ventral thalamus, and dorsal thalamus[WP,modified]. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004469|FMA:258745 uberon owl:Class UBERON:0019269 biolink:NamedThing gray matter of diencephalon tmpxe7fu0cj_hp_relaxed.owl FMA:83912 uberon owl:Class HP:0002907 biolink:NamedThing Microscopic hematuria Microscopic hematuria detected by dipstick or microscopic examination of the urine. tmpxe7fu0cj_hp_relaxed.owl Small amount of blood in urine|Microhematuria|Occult hematuria UMLS:C0239937|SNOMEDCT_US:197940006 human_phenotype owl:Class UBERON:0001695 biolink:NamedThing squamous part of temporal bone A bone which is fused with the temporal bone in many mammals and forms part of the cheek region articulating with quadrate and pterygoid in other vertebrates. tmpxe7fu0cj_hp_relaxed.owl pars squamosa ossis temporalis|squamosal|temporal bone squamous part|squama temporalis|squama|squamosum|os squamosum|pars squamosa (os temporale)|squamosal bone|squamous bone MA:0001473|FMA:52883|AAO:0000574|EMAPA:18021|VHOG:0001561 http://upload.wikimedia.org/wikipedia/commons/e/eb/Skull_synapsida_1.png|http://upload.wikimedia.org/wikipedia/commons/f/fd/Gray144.png consider separate class for squamosal OR making squamosal the primary label uberon owl:Class Paired, intramembranous bones that lie at the posterolateral margins of the skull. Lateral and dorsal to the quadrate.[AAO]|The squamosal bone is part of the dermatocranium in early tetrapods and becomes part of the mammalian occipital and temporal bones. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Grande_L, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF, p.246, see_Liem_KF][VHOG] The squamosal bone, which is homologous with the squama, and forms the side of the cranium in many bony fish and tetrapods. Primitively, it is a flattened plate-like bone, but in many animals it is narrower in form, for example, where it forms the boundary between the two temporal fenestrae of diapsid reptiles GO:0032594 biolink:NamedThing protein transport within lipid bilayer The directed movement of a protein from one location to another within a lipid bilayer. tmpxe7fu0cj_hp_relaxed.owl receptor translocation within membrane|receptor transport within lipid bilayer|protein translocation within membrane biological_process owl:Class GO:0006886 biolink:NamedThing intracellular protein transport The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. tmpxe7fu0cj_hp_relaxed.owl copper-induced intracellular protein transport GO:0032779 biological_process owl:Class CHEBI:17026 biolink:NamedThing progesterone A C21-steroid hormone in which a pregnane skeleton carries oxo substituents at positions 3 and 20 and is unsaturated at C(4)-C(5). As a hormone, it is involved in the female menstrual cycle, pregnancy and embryogenesis of humans and other species. tmpxe7fu0cj_hp_relaxed.owl Crinone|Delta(4)-pregnene-3,20-dione|Progesterone|(S)-4-Pregnene-3,20-dione|Gelbkoerperhormon|(S)-Progesterone|pregn-4-ene-3,20-dione|(S)-Pregn-4-en-3,20-dione|luteohormone|PROGESTERONE|Akrolutin|Agolutin|4-Pregnene-3,20-dione|17alpha-progesterone|Progesteron|progesterone|corpus luteum hormone 0 C21H30O2 InChI=1S/C21H30O2/c1-13(22)17-6-7-18-16-5-4-14-12-15(23)8-10-20(14,2)19(16)9-11-21(17,18)3/h12,16-19H,4-11H2,1-3H3/t16-,17+,18-,19-,20-,21+/m0/s1 RJKFOVLPORLFTN-LEKSSAKUSA-N 314.46170 314.22458 [H][C@@]12CCC3=CC(=O)CC[C@]3(C)[C@@]1([H])CC[C@]1(C)[C@H](CC[C@@]21[H])C(C)=O Gmelin:708590|Beilstein:1915950|PDBeChem:STR|CAS:57-83-0|HMDB:HMDB0001830|DrugBank:DB00396|MetaCyc:PROGESTERONE|PMID:10438974|KEGG:C00410|KEGG:D00066|Drug_Central:2279|Wikipedia:Progesterone|Reaxys:1915950|PMID:9506942 CHEBI:14896|CHEBI:8453|CHEBI:45786|CHEBI:439|CHEBI:18798|CHEBI:26269 chebi_ontology owl:Class UBERON:0002061 biolink:NamedThing truncus arteriosus The truncus arteriosus and bulbus cordis are divided by the aorticopulmonary septum. The truncus arteriosus gives rise to the ascending aorta and the pulmonary trunk. The bulbus cordis gives rise to the smooth parts (outflow tract) of the left and right ventricles. tmpxe7fu0cj_hp_relaxed.owl MA:0000103|NCIT:C34317|GAID:554|UMLS:C1519589|EMAPA:35887|EHDAA2:0004143|MESH:D014338|OpenCyc:Mx4rquH9YKgNEdudWQACs5b6Bw|FMA:70301|Wikipedia:Truncus_arteriosus_(embryology)|SCTID:308828009 uberon owl:Class assume spelling error for ncit UBERON:0013718 biolink:NamedThing dartos muscle The dartos fascia is a fat-free layer of smooth muscular fiber outside the external spermatic fascia but below the skin. It is a continuation of Scarpa's Fascia which is a membranous layer of the subcutaneous tissue in the abdominal wall. tmpxe7fu0cj_hp_relaxed.owl dartos tunic|dartos muscle|tunica dartos FMA:18088 uberon owl:Class dartoid|dartoic UBERON:0008882 biolink:NamedThing spinal cord commissure The nerve fiber tracts that span the midline of the spinal cord. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37955 uberon owl:Class UBERON:0007699 biolink:NamedThing tract of spinal cord An axon tract that is part of a spinal cord. tmpxe7fu0cj_hp_relaxed.owl spinal cord tract UMLS:C1519456|NCIT:C12995|FMA:75683 uberon owl:Class HP:0011843 biolink:NamedThing Abnormality of musculoskeletal physiology An abnormality of the function of the skeletal system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023164 peter 2012-05-07T08:09:43Z owl:Class GO:0002833 biolink:NamedThing positive regulation of response to biotic stimulus Any process that activates or increases the frequency, rate, or extent of a response to biotic stimulus. tmpxe7fu0cj_hp_relaxed.owl activation of response to biotic stimulus|up regulation of response to biotic stimulus|upregulation of response to biotic stimulus|up-regulation of response to biotic stimulus|stimulation of response to biotic stimulus Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class UBERON:0004062 biolink:NamedThing neural tube marginal layer The outermost layer of the neural tube that consists of axons from the developing mantle layer and will form the white matter. tmpxe7fu0cj_hp_relaxed.owl brain marginal zone|neural tube marginal zone http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1368|EMAPA:17151 uberon owl:Class UBERON:0010343 biolink:NamedThing 2nd arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 2nd arch mesenchyme. tmpxe7fu0cj_hp_relaxed.owl branchial arch 2 mesenchyme from head mesenchyme|mesenchyme derived from head mesoderm of mesenchyme of 2nd arch|pharyngeal arch 2 mesenchyme from head mesenchyme|head mesenchyme derived arch 2 mesenchyme EHDAA2:0000067|EMAPA:16280 uberon owl:Class HP:0009208 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 5th finger Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the middle bone of the pinkie finger|Irregular end part of the middle bone of the little finger|Irregular end part of the middle bone of the pinky finger UMLS:C4024532 doelkens 2009-01-05T05:22:18Z human_phenotype owl:Class UBERON:0017670 biolink:NamedThing bony part of cervical vertebral arch A bony part of vertebral arch that is part of a cervical vertebral arch. tmpxe7fu0cj_hp_relaxed.owl bony part of arch of cervical vertebra FMA:29794 uberon owl:Class HP:0100707 biolink:NamedThing Abnormal astrocyte morphology An abnormality of astrocytes. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the astrocytes UMLS:C4021991 Astrocytes represent a class of large neuroglial (macroglial) cells in the central nervous system. doelkens 2011-04-03T02:36:46Z human_phenotype owl:Class GO:0070950 biolink:NamedThing regulation of neutrophil mediated killing of bacterium Any process that modulates the rate, frequency or extent of neutrophil mediated killing of a bacterium, the directed killing of a bacterium by a neutrophil. tmpxe7fu0cj_hp_relaxed.owl mah 2009-10-01T02:14:36Z biological_process owl:Class UBERON:0001601 biolink:NamedThing extra-ocular muscle Skeletal muscle derived from cranial mesoderm and controls eye movements. tmpxe7fu0cj_hp_relaxed.owl extrinsic ocular muscle|extraocular muscle|extrinsic muscle of eyeball|musculi externi bulbi oculi|extraocular musculature|extra-ocular skeletal muscle|extraocular skeletal muscle|extrinsic eye muscle CALOHA:TS-0305|EHDAA2:0000482|MA:0001271|EFO:0001921|ZFA:0000511|EMAPA:18234|BTO:0001579|AAO:0010028|FMA:49033|TAO:0000511|EHDAA:5729|VHOG:0000549 http://upload.wikimedia.org/wikipedia/commons/6/61/MRI_of_human_eye.jpg todo - resolve discrepancies in which muscles are considered extra-ocular UBERON:0006229 uberon owl:Class Any of the six small muscles that control movement of the eyeball within the socket. [TFD][VHOG]|Muscles surrounding the eye (bulbus oculi) and having an effect on eye movements.[AAO] The ability to rotate the eyeball is common to all vertebrates with well-developed eyes, regardless of the habitat in which they live, so these (extrinsic ocular) muscles tend to be conservative. They change little during the course of evolution.[well established][VHOG] extraocular Mammals have 7 extra-ocular muscles, but humans lack the M. retractor bulbi. Myofibers in extraocular muscles are derived from mesoderm, whereas muscle connective tissue cells arise from neural crest.[PMID:16638982] BTO and MA consider this part of the eye; we follow them here (inferred from skeletal muscle). Not clear if omission from FMA is deliberate. HP:0011708 biolink:NamedThing Mobitz II atrioventricular block A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval. tmpxe7fu0cj_hp_relaxed.owl Mobitz type 2 atrioventricular block UMLS:C0155700|SNOMEDCT_US:28189009 Mobitz I atrioventricular block is usually associated with a prolonged QRS duration. peter 2012-04-11T07:34:09Z human_phenotype owl:Class UBERON:0036553 biolink:NamedThing wall of synovial tendon sheath tmpxe7fu0cj_hp_relaxed.owl FMA:231590 uberon owl:Class HP:3000074 biolink:NamedThing Abnormal lingual artery morphology Any structural abnormality of a lingual artery. tmpxe7fu0cj_hp_relaxed.owl Abnormality of lingual artery UMLS:C4073281 vasilevs 2015-08-07T03:39:06Z owl:Class CHEBI:132952 biolink:NamedThing oxalate A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of oxalic acid. tmpxe7fu0cj_hp_relaxed.owl ethanedioic acid anions|oxalates|oxalate anion|oxalic acid anions|oxalic acid anion|ethanedioic acid anion|oxalate anions chebi_ontology owl:Class UBERON:0036375 biolink:NamedThing wall of right ureter tmpxe7fu0cj_hp_relaxed.owl right ureteral wall FMA:15889 uberon owl:Class HP:0031375 biolink:NamedThing Refractory Applies to a sign or symptom that is difficult to treat or cure. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 01:54:32+00:00 peter owl:Class HP:0031201 biolink:NamedThing Granular casts A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. tmpxe7fu0cj_hp_relaxed.owl 2017-06-27 11:06:58+00:00 It has been demonstrated that in patients with proteinuria, fine granules contain ultrafiltered proteins which have been reabsorbed by tubular cells, whilst in non-proteinuric patients coarse granules probably derive from the degeneration of cellular elements, such as leukocytes and renal epithelial cells present in the tubular lumen during cast formation. peter owl:Class UBERON:0010571 biolink:NamedThing manual digit 2 metacarpus cartilage element A manual digit metacarpus cartilage element that is part of a manual digit 2 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl hand digit 2 metacarpus cartilage element|finger 2 metacarpus cartilage element|manual digit II metacarpus cartilage element|fore limb digit 2 metacarpus cartilage element|metacarpus 2 cartilage element EHDAA2:0000520|EMAPA:18070 uberon owl:Class UBERON:0015044 biolink:NamedThing manual digit 2 metacarpus endochondral element A manual digit 2 metacarpus bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl manual digit 2 metacarpus skeletal element|manual digit II metacarpus endochondral element|manual digit 2 metacarpus element uberon owl:Class GO:0051340 biolink:NamedThing regulation of ligase activity Any process that modulates the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6. tmpxe7fu0cj_hp_relaxed.owl ligase regulator biological_process owl:Class UBERON:0018550 biolink:NamedThing secondary incisor tooth tmpxe7fu0cj_hp_relaxed.owl permanent incisor tooth|permanent incisor FMA:84201 uberon owl:Class HP:0012757 biolink:NamedThing Abnormal neuron morphology A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions. tmpxe7fu0cj_hp_relaxed.owl Abnormal neuronal morphology|Abnormal neuron shape UMLS:C4022739 peter 2014-04-02T05:12:30Z owl:Class HP:0012639 biolink:NamedThing Abnormal nervous system morphology A structural anomaly of the nervous system. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of nervous system|Abnormal nervous system morphology|Abnormality of nervous system morphology UMLS:C4022810|Fyler:4135|Fyler:4300 peter 2014-01-19T08:03:08Z owl:Class UBERON:0013588 biolink:NamedThing fused metatarsal bones 3 and 4 An element formed from the fusion of metatarsal 3 and metatarsal 4. tmpxe7fu0cj_hp_relaxed.owl fused metatarsal 3/4|metatarsal 3+4|os metatarsale III et IV (Ru) uberon owl:Class In many artiodactyls, the 3rd & 4th metapodials are fused, creating a main metapodial. HP:0031464 biolink:NamedThing Genital blistering The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 16:21:13+00:00 peter owl:Class HP:0033800 biolink:NamedThing Blistering by anatomical location Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur. tmpxe7fu0cj_hp_relaxed.owl 2021-05-08 14:53:30+00:00 peter owl:Class CHEBI:132954 biolink:NamedThing sebacate A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of sebacic acid. tmpxe7fu0cj_hp_relaxed.owl sebacic acid anion|decanedioic acid anion|decanedioic acid anions|sebacate anion|sebacate anions|sebacates|sebacic acid anions chebi_ontology owl:Class UBERON:0002090 biolink:NamedThing postcranial axial skeleton The postcranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]. tmpxe7fu0cj_hp_relaxed.owl axial skeleton|post-cranial axial skeleton EMAPA:37721|VSAO:0000093|TAO:0000317|AAO:0000034|FMA:71221|MIAA:0000148|XAO:0003073|EHDAA:5049|EMAPA:17214|EHDAA2:0000161|MA:0002986|EFO:0000942|MAT:0000148|VHOG:0000317|ZFA:0000317 previous some AOs had used the term 'axial skeleton' to include the skull. This is being resolved (see tracker items above). Status: MA - fixed. uberon http://purl.obolibrary.org/obo/uberon/docs/The-axial-skeleton owl:Class Skeletal subdivision of the central body axis including vertebrae, notochord, ribs, and sternum.[VSAO]|The axial skeleton is formed by the vertebral column, a metameric, semi-flexible, arched bar located in the dorsal part of the trunk, and is formed by a series of cartilaginous or bony vertebrae. It provides suspension for the appendicular skeleton and protection for the spinal nerve cord.[AAO]|The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins.[TAO] The axial musculoskeletal system represents the plesiomorphic locomotor engine of the vertebrate body, playing a central role in locomotion. In craniates, the evolution of the postcranial skeleton is characterized by two major transformations. First, the axial skeleton became increasingly functionally and morphologically regionalized. Second, the axial-based locomotion plesiomorphic for craniates became progressively appendage-based with the evolution of extremities in tetrapods.[well established][VHOG] GO:0016125 biolink:NamedThing sterol metabolic process The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. tmpxe7fu0cj_hp_relaxed.owl sterol metabolism biological_process owl:Class HP:0030416 biolink:NamedThing Vulvar neoplasm A tumor (abnormal growth of tissue) of the female external genital tract (vulva). tmpxe7fu0cj_hp_relaxed.owl Tumour of the vulva|Neoplasm of the vulva|Tumor of the vulva NCIT:C3262|UMLS:C0042995|MSH:D014846|SNOMEDCT_US:126922007 owl:Class HP:0002047 biolink:NamedThing Malignant hyperthermia Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine. tmpxe7fu0cj_hp_relaxed.owl Malignant hyperthermia with anaesthesia|Malignant hyperthermia with anesthesia UMLS:C0024591|SNOMEDCT_US:405501007|MSH:D008305|SNOMEDCT_US:213026003 HP:0004896 owl:Class HP:0009356 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 3rd finger A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. tmpxe7fu0cj_hp_relaxed.owl Delta-shaped epiphysis of the proximal phalanx of the 3rd finger|Triangular end part of innermost long bone of the middle finger UMLS:C4021487 doelkens 2009-01-12T11:19:03Z human_phenotype owl:Class HP:0010278 biolink:NamedThing Triangular epiphyses of the proximal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the innermost hand bones UMLS:C4023923 doelkens 2009-07-06T04:25:12Z owl:Class UBERON:0034874 biolink:NamedThing air in respiratory system Any portion of gas located in a part of the respiratory system that is composed primarily of air. tmpxe7fu0cj_hp_relaxed.owl respiratory system air|respiratory air FMA:84581 uberon owl:Class UBERON:0034873 biolink:NamedThing bodily gas Any substance in the body or expelled from the body that is in a gaseous state. tmpxe7fu0cj_hp_relaxed.owl gas in anatomical space|portion of gas in anatomical space FMA:84580 uberon owl:Class UBERON:0014930 biolink:NamedThing perivascular space The space between a blood vessel and the pia mater. tmpxe7fu0cj_hp_relaxed.owl perivascular spaces|Virchow-Robin space|perivascular region|VRS NCIT:C83196 VRS belonging to the subarachnoid space are continuous with VRS of the subpial space. The direct communication between VRS of the subarachnoid space and the subpial space is unique to the brain's arteries, as no leptomeningeal layers surround the brain's veins[WP] https://static-content.springer.com/image/art%3A10.1007%2Fs11064-015-1581-6/MediaObjects/11064_2015_1581_Fig3_HTML.gif uberon owl:Class GO:0046883 biolink:NamedThing regulation of hormone secretion Any process that modulates the frequency, rate or extent of the regulated release of a hormone from a cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1904951 biolink:NamedThing positive regulation of establishment of protein localization Any process that activates or increases the frequency, rate or extent of establishment of protein localization. tmpxe7fu0cj_hp_relaxed.owl positive regulation of establishment of protein localisation|activation of establishment of protein localization|up regulation of establishment of protein localisation|up-regulation of protein recruitment|upregulation of protein recruitment|activation of protein recruitment|upregulation of establishment of protein localization|activation of establishment of protein localisation|activation of protein positioning|up-regulation of establishment of protein localisation|positive regulation of protein recruitment|up-regulation of establishment of protein localization|up regulation of protein positioning|upregulation of protein positioning|positive regulation of protein positioning|up regulation of protein recruitment|upregulation of establishment of protein localisation|up regulation of establishment of protein localization|up-regulation of protein positioning mec 2016-02-05T09:59:32Z biological_process owl:Class GO:0060299 biolink:NamedThing negative regulation of sarcomere organization Any process that decreases the rate, frequency or extent of myofibril assembly by organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. tmpxe7fu0cj_hp_relaxed.owl negative regulation of sarcomere organisation biological_process owl:Class GO:0097283 biolink:NamedThing keratinocyte apoptotic process Any apoptotic process in a keratinocyte. A keratinocyte is an epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. tmpxe7fu0cj_hp_relaxed.owl keratinocyte apoptosis pr 2012-03-29T10:20:51Z biological_process owl:Class GO:0015844 biolink:NamedThing monoamine transport The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl GO:0015873 biological_process owl:Class CHEBI:36278 biolink:NamedThing cholanic acids tmpxe7fu0cj_hp_relaxed.owl CHEBI:23211|CHEBI:23166 chebi_ontology owl:Class GO:0032946 biolink:NamedThing positive regulation of mononuclear cell proliferation Any process that activates or increases the frequency, rate or extent of mononuclear cell proliferation. tmpxe7fu0cj_hp_relaxed.owl up regulation of mononuclear cell proliferation|activation of mononuclear cell proliferation|stimulation of mononuclear cell proliferation|up-regulation of mononuclear cell proliferation|positive regulation of peripheral blood mononuclear cell proliferation|positive regulation of PBMC proliferation|upregulation of mononuclear cell proliferation biological_process owl:Class CL:0000100 biolink:NamedThing motor neuron An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes or inhibits movement. tmpxe7fu0cj_hp_relaxed.owl motoneuron WBbt:0005409|BTO:0000312|FMA:83617 cell owl:Class UBERON:0008854 biolink:NamedThing root of molar tooth The part of a molar tooth that is implanted in the gum; mandibular and maxillary molars usually have two and three roots, respectively. tmpxe7fu0cj_hp_relaxed.owl molar root|molar tooth root EMAPA:37948|FMA:85302 uberon owl:Class GO:1904015 biolink:NamedThing cellular response to serotonin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a serotonin stimulus. tmpxe7fu0cj_hp_relaxed.owl sl 2015-03-06T19:34:00Z biological_process owl:Class GO:1904014 biolink:NamedThing response to serotonin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a serotonin stimulus. tmpxe7fu0cj_hp_relaxed.owl sl 2015-03-06T19:33:54Z biological_process owl:Class HP:0002725 biolink:NamedThing Systemic lupus erythematosus A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. tmpxe7fu0cj_hp_relaxed.owl SLE MSH:D008180|SNOMEDCT_US:55464009|UMLS:C0024141 This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease. human_phenotype owl:Class HP:0033000 biolink:NamedThing Subglottic laryngitis Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure. tmpxe7fu0cj_hp_relaxed.owl Laryngitis|Viral croup|Pseudocroup|Spasmodic croup|Subglottic laryngitis|Croup peter owl:Class HP:0011724 biolink:NamedThing Uhl's anomaly Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0265857|SNOMEDCT_US:2829000|MSH:C536932 peter 2012-04-11T08:59:07Z human_phenotype owl:Class CHEBI:16094 biolink:NamedThing thiosulfate(2-) A divalent inorganic anion obtained by removal of both protons from thiosulfuric acid. tmpxe7fu0cj_hp_relaxed.owl thiosulfate|S2O3|[SO3S](2-)|thiosulfate ion(2-)|thiosulphate|sulfurothioate|trioxido-1kappa(3)O-disulfate(S--S)(2-)|Hyposulfite|TETRATHIONATE|trioxidosulfidosulfate(2-)|Thiosulfate|S2O3(2-) -2 O3S2 InChI=1S/H2O3S2/c1-5(2,3)4/h(H2,1,2,3,4)/p-2 DHCDFWKWKRSZHF-UHFFFAOYSA-L 112.13020 111.92998 [O-]S([S-])(=O)=O Gmelin:2031|CAS:14383-50-7|PDBeChem:THJ CHEBI:45922|CHEBI:9569|CHEBI:15242 chebi_ontology owl:Class CHEBI:33482 biolink:NamedThing sulfur oxoanion tmpxe7fu0cj_hp_relaxed.owl sulfur oxoanion|sulfur oxoanions|oxoanions of sulfur chebi_ontology owl:Class HP:0003233 biolink:NamedThing Decreased HDL cholesterol concentration An decreased concentration of high-density lipoprotein cholesterol in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased circulating high-density lipoprotein cholesterol|Decreased circulating high-density lipoprotein levels|Low HDL-cholesterol|Decreased HDL cholesterol|Hypoalphalipoproteinemia MSH:D052456|UMLS:C0151691|UMLS:C0473527|SNOMEDCT_US:190785000 human_phenotype owl:Class UBERON:0003300 biolink:NamedThing roof plate of telencephalon A roof plate that is part of a telencephalon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl roofplate medulla telencephalon|roofplate of telencephalon|telencephalon roof plate|telencephalon roofplate|roof plate telencephalon EHDAA:3512|VHOG:0000774|EMAPA:16657|EHDAA2:0001994 uberon owl:Class Roof plate that is part of the telencephalon. [Bgee_curator][VHOG] HP:0011053 biolink:NamedThing Agenesis of mandibular premolar Agenesis of mandibular premolar. tmpxe7fu0cj_hp_relaxed.owl Missing mandibular premolar|Failure of development of mandibular premolar|Missing lower premolar|Absence of lower premolar|Absence of mandibular premolar UMLS:C4280349|UMLS:C4023564 peter 2011-03-10T11:40:37Z human_phenotype owl:Class HP:0011051 biolink:NamedThing Agenesis of premolar Agenesis of premolar tooth. tmpxe7fu0cj_hp_relaxed.owl Agenesis of bicuspid|Failure of development of bicuspid|Absence of bicuspid|Absence of premolar|Failure of development of premolar|Missing premolar|Missing bicuspid UMLS:C4023566|UMLS:C4280351 Note that premolar teeth occur only in the permanent dentition. peter 2011-03-10T11:36:44Z human_phenotype owl:Class CHEBI:62944 biolink:NamedThing sialic acid anion A carboxylic acid anion that is the conjugate base of a sialic acid, formed by deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl sialic acid anions chebi_ontology owl:Class HP:0010594 biolink:NamedThing Abnormality of the proximal fibular epiphysis Any abnormality of the proximal epiphysis of the fibula. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the innermost end part of calf bone UMLS:C4023779 sandra1 2009-10-22T03:04:39Z human_phenotype owl:Class HP:0010593 biolink:NamedThing Abnormality of fibular epiphyses tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the calf bone UMLS:C4023780 sandra1 2009-10-22T03:03:34Z human_phenotype owl:Class HP:0032415 biolink:NamedThing Parasagittal parieto-occipital polymicrogyria Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex. tmpxe7fu0cj_hp_relaxed.owl 2019-02-26 13:20:55+00:00 peter owl:Class HP:0040023 biolink:NamedThing Clinodactyly of the thumb tmpxe7fu0cj_hp_relaxed.owl Curvature of thumb UMLS:C1856888|UMLS:C4280297 HPO:skoehler owl:Class GO:1902685 biolink:NamedThing positive regulation of receptor localization to synapse Any process that activates or increases the frequency, rate or extent of receptor localization to synapse. tmpxe7fu0cj_hp_relaxed.owl up regulation of receptor localization to synapse|positive regulation of receptor localisation to synapse|up regulation of receptor localisation to synapse|activation of receptor localisation to synapse|up-regulation of receptor localisation to synapse|upregulation of receptor localisation to synapse|activation of receptor localization to synapse|upregulation of receptor localization to synapse|up-regulation of receptor localization to synapse kmv 2014-02-07T17:38:51Z biological_process owl:Class GO:1902683 biolink:NamedThing regulation of receptor localization to synapse Any process that modulates the frequency, rate or extent of receptor localization to synapse. tmpxe7fu0cj_hp_relaxed.owl regulation of receptor localisation to synapse kmv 2014-02-07T17:38:31Z biological_process owl:Class UBERON:0010575 biolink:NamedThing manual digit 1 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit 1 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl manual digit I phalanx pre-cartilage condensation|fore limb digit 1 phalanx pre-cartilage condensation|hand digit 1 phalanx pre-cartilage condensation EHDAA2:0000516|EMAPA:17715 uberon owl:Class UBERON:0015025 biolink:NamedThing manual digit 1 phalanx endochondral element A manual digit 1 phalanx bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl manual digit I phalanx endochondral element|manual digit 1 phalanx skeletal element|manual digit 1 phalanx element uberon owl:Class CL:0000453 biolink:NamedThing Langerhans cell Langerhans cell is a conventional dendritic cell that has plasma membrane part CD207. A Langerhans cell is a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus. tmpxe7fu0cj_hp_relaxed.owl LC|Langerhans' cell BTO:0000705|CALOHA:TS-2375|FMA:63072 Originally described in the dendritic cell ontology (DC_CL:0000021 )(PMID:19243617). These cells are also CD1a-high, CD14-negative, CD207-positive (langerin), CD324-positive (E-cadherin), and DCIR-positive. They reside in the epidermis. cell owl:Class HP:0004430 biolink:NamedThing Severe combined immunodeficiency A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. tmpxe7fu0cj_hp_relaxed.owl Immunodeficiency, severe combined SNOMEDCT_US:31323000|UMLS:C0085110|MSH:D016511 peter 2008-03-18T09:46:00Z human_phenotype owl:Class HP:0005387 biolink:NamedThing Combined immunodeficiency A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0494261 human_phenotype owl:Class UBERON:0006822 biolink:NamedThing proximal epiphysis of ulna The head of ulna presents an articular surface, part of which, of an oval or semilunar form, is directed downward, and articulates with the upper surface of the triangular articular disk which separates it from the wrist-joint; the remaining portion, directed lateralward, is narrow, convex, and received into the ulnar notch of the radius. tmpxe7fu0cj_hp_relaxed.owl head of ulna|caput ulnae|upper end of ulna|proximal end of ulna FMA:33751|galen:HeadOfUlna uberon owl:Class UBERON:0004386 biolink:NamedThing epiphysis of ulna An epiphysis that is part of an ulna [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl ulnar epiphysis FMA:33748 uberon owl:Class GO:0034112 biolink:NamedThing positive regulation of homotypic cell-cell adhesion Any process that activates or increases the frequency, rate, or extent of homotypic cell-cell adhesion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0034110 biolink:NamedThing regulation of homotypic cell-cell adhesion Any process that modulates the frequency, rate, or extent of homotypic cell-cell adhesion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0000957 biolink:NamedThing Cafe-au-lait spot Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. tmpxe7fu0cj_hp_relaxed.owl Birthmark|Cafe-au-lait spots|Cafe-au-lait macule|Cafe-au-lait macules|Cafe au lait spots|Flat light-brown mark on skin MSH:D019080|SNOMEDCT_US:51089004|UMLS:C0265974|SNOMEDCT_US:201281002|UMLS:C0221263 The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia. HP:0005601|HP:0007454 human_phenotype owl:Class HP:0100368 biolink:NamedThing Short phalanx of the 5th toe Developmental hypoplasia of one or more phalanx of little toe. tmpxe7fu0cj_hp_relaxed.owl Short pinkie toe bone|Short phalanx of the fifth toe|Short little toe bone|Short pinky toe bone|Hypoplastic/small phalanges of the 5th toe UMLS:C4021012 human_phenotype owl:Class UBERON:0004699 biolink:NamedThing outflow tract endothelium An endothelium that is part of a outflow tract [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl VHOG:0001524|MA:0000490 uberon owl:Class It is assumed that during evolution, a circulatory system composed of the heart and endothelial tubular system first formed in vertebrates, medial smooth muscle then appeared for regulation of the system, and innervation of the muscle tissue took place. This sequence of development assumed for phylogenesis is actually realized in the ontogenetic processes.[well established][VHOG] GO:0051222 biolink:NamedThing positive regulation of protein transport Any process that activates or increases the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl up regulation of protein transport|upregulation of protein transport|stimulation of protein transport|up-regulation of protein transport|activation of protein transport biological_process owl:Class HP:0031879 biolink:NamedThing Abnormal eyelid physiology Any functional abnormality of the eyelid. tmpxe7fu0cj_hp_relaxed.owl 2018-05-06 15:39:56+00:00 peter owl:Class HP:0009280 biolink:NamedThing Short 4th finger Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger. tmpxe7fu0cj_hp_relaxed.owl Short ring finger|Hypoplastic/small 4th finger UMLS:C4021502 doelkens 2009-01-07T04:28:08Z HP:0006211|HP:0004190 human_phenotype owl:Class UBERON:0001216 biolink:NamedThing jejunal vein A tributary of the superior mesenteric vein that drains the jejunum. tmpxe7fu0cj_hp_relaxed.owl venae jejunales EMAPA:37160|MA:0002153|FMA:15402 http://upload.wikimedia.org/wikipedia/commons/3/33/Gray591.png uberon owl:Class GO:1905873 biolink:NamedThing positive regulation of protein localization to cell leading edge Any process that activates or increases the frequency, rate or extent of protein localization to cell leading edge. tmpxe7fu0cj_hp_relaxed.owl upregulation of protein localisation to cell leading edge|up-regulation of protein localization in cell leading edge|up regulation of protein localisation to cell leading edge|activation of protein localization to cell leading edge|upregulation of protein localisation in cell leading edge|activation of protein localisation in cell leading edge|up regulation of protein localization to cell leading edge|activation of protein localisation to cell leading edge|up-regulation of protein localization to cell leading edge|up-regulation of protein localisation in cell leading edge|up regulation of protein localisation in cell leading edge|up regulation of protein localization in cell leading edge|positive regulation of protein localisation in cell leading edge|upregulation of protein localization to cell leading edge|activation of protein localization in cell leading edge|up-regulation of protein localisation to cell leading edge|positive regulation of protein localisation to cell leading edge|upregulation of protein localization in cell leading edge|positive regulation of protein localization in cell leading edge sl 2017-01-27T19:35:13Z biological_process owl:Class CHEBI:26271 biolink:NamedThing proline An alpha-amino acid that is pyrrolidine bearing a carboxy substituent at position 2. tmpxe7fu0cj_hp_relaxed.owl Prolin|prolina|DL-Proline|pyrrolidine-2-carboxylic acid|Hpro|proline 0 C5H9NO2 InChI=1S/C5H9NO2/c7-5(8)4-2-1-3-6-4/h4,6H,1-3H2,(H,7,8) ONIBWKKTOPOVIA-UHFFFAOYSA-N 115.13050 115.06333 OC(=O)C1CCCN1 KEGG:C16435|PMID:22264337|PMID:22770225|Wikipedia:Proline|PMID:21400017|PMID:21903295|PMID:16534801|PMID:22280966|Reaxys:80809|Beilstein:80809|Gmelin:26927|CAS:609-36-9 chebi_ontology owl:Class UBERON:0001643 biolink:NamedThing oculomotor nerve Cranial nerve which connects the midbrain to the extra-ocular and intra-ocular muscles. tmpxe7fu0cj_hp_relaxed.owl CN-III|oculomotor nerve tree|cranial nerve III|oculomotor III|third cranial nerve|oculomotor III nerve|nerve III|nervus oculomotorius [III]|occulomotor|nervus oculomotorius|oculomotor nerve [III]|oculomotor nerve or its root|3n HBA:9316|MBA:832|BIRNLEX:1646|NCIT:C12758|MESH:D009802|BAMS:3n|FMA:50864|MA:0001095|AAO:0010468|EMAPA:17574|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=488|UMLS:C0028864|XAO:0003090|ZFA:0000405|BAMS:IIIn|TAO:0000405|EHDAA2:0001284|OpenCyc:Mx4rvj7pZpwpEbGdrcN5Y29ycA|BM:MB-IIIN|EHDAA:3736|VHOG:0000692|GAID:829 http://upload.wikimedia.org/wikipedia/commons/6/69/Gray776.png uberon owl:Class Somatic efferent fibers which innervate four eye muscles.[AAO] We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...) (reference 1); Phylogenetically, the cranial nerves are thought to have evolved from dorsal and ventral nerves of a few anterior spinal nerves that became incorporated into the braincase. Dorsal and ventral nerves fuse in the trunk but not in the head, and they produce two series: dorsal cranial nerves (V, VII, IX, and X) and ventral cranial nerves (III, IV, VI, and XIII) (reference 2).[well established][VHOG] GO:2000508 biolink:NamedThing regulation of dendritic cell chemotaxis Any process that modulates the frequency, rate or extent of dendritic cell chemotaxis. tmpxe7fu0cj_hp_relaxed.owl ebc 2011-03-22T10:21:38Z biological_process owl:Class GO:0071675 biolink:NamedThing regulation of mononuclear cell migration Any process that modulates the rate, frequency or extent of mononuclear cell migration. Mononuclear cell migration is the movement of a mononuclear cell within or between different tissues and organs of the body. tmpxe7fu0cj_hp_relaxed.owl mah 2010-02-16T02:11:53Z biological_process owl:Class HP:0009656 biolink:NamedThing Symphalangism of the thumb Congenital fusion (ankylosis) of the interphalangeal joint of the thumb. tmpxe7fu0cj_hp_relaxed.owl Fused thumb bones|Symphalangism of the distal and proximal phalanges of the thumb|Fused thumb phalanges UMLS:C1834032 Symphalangism is caused by a failure of segmentation that occurs during early fetal development. doelkens 2009-01-29T05:29:26Z HP:0009647|HP:0009639|HP:0004068 human_phenotype owl:Class HP:0006480 biolink:NamedThing Premature loss of teeth Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. tmpxe7fu0cj_hp_relaxed.owl Premature teeth loss|Premature exfoliation of teeth|Early tooth loss|Loss of teeth|Premature tooth loss UMLS:C0232513|SNOMEDCT_US:42756003|UMLS:C0399385|SNOMEDCT_US:234974002 peter 2008-03-28T05:03:00Z HP:0001564|HP:0006343|HP:0000701 owl:Class HP:0011441 biolink:NamedThing Abnormality of the medulla oblongata An abnormality of the medulla oblongata, the lower half of the brainstem. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the myencephalon UMLS:C4021148 The medulla oblongata, which is often referred to simply as the medulla, comprises the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures. peter 2012-03-18T01:51:24Z human_phenotype owl:Class HP:0030359 biolink:NamedThing Squamous cell lung carcinoma A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:254634000|UMLS:C0149782 Four subtypes of squamous cell lung carcinoma exist: (i) papillary; (ii) clear cell; (iii) small cell (distinct from small cell lung cancer); and (iv) basaloid. owl:Class HP:0030358 biolink:NamedThing Non-small cell lung carcinoma tmpxe7fu0cj_hp_relaxed.owl Non-small cell lung cancer UMLS:C0007131|SNOMEDCT_US:254637007|MSH:D002289 owl:Class HP:0009645 biolink:NamedThing Osteolytic defect of the distal phalanx of the thumb Dissolution or degeneration of bone tissue of the distal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Osteolytic defects of the outermost bone of the thumb|Osteolytic defects of the distal phalanx of the thumb UMLS:C4021417 doelkens 2009-01-29T05:19:33Z human_phenotype owl:Class UBERON:0002397 biolink:NamedThing maxilla The bone which normally forms the lateral upper jaw in osteichthyans, including tetrapods. tmpxe7fu0cj_hp_relaxed.owl maxillary bone|maxillae|upper jaw bone VHOG:0001021|ZFA:0000270|FMA:9711|galen:Maxilla|EHDAA:8043|AAO:0000285|GAID:220|TAO:0000270|MESH:D008437|NCIT:C26470|UMLS:C0024947|EHDAA2:0001068|MA:0001491|CALOHA:TS-2217|VSAO:0000207|EMAPA:17639 Fusion of maxilla + premaxilla http://upload.wikimedia.org/wikipedia/commons/a/a7/Gray189.png uberon owl:Class Paired, intramembranous bone located on the lateral sides of the skull, posterior to the premaxillae.[AAO]|Dermal bone that forms part of the upper jaw, located antero-ventral to the premaxilla. The maxilla is a paired bone.[TAO] relationship loss: overlaps autopalatine-maxillary joint (TAO:0001942)[TAO]|relationship loss: overlaps premaxillary-maxillary joint (TAO:0002260)[TAO] In some teleosts, the maxilla is located postero-ventral to the supramaxilla. Commonly, the articular process of the maxilla articulates with the autopalatine and ethmoidal region antero-medially. The maxilla is usually the largest bone in the upper jaw assemblage.[TAO] maxillary UBERON:0036072 biolink:NamedThing respiratory primordium epithelium tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004070 uberon owl:Class HP:5000030 biolink:NamedThing Anti-Ri antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, ,an antineuronal antibody. tmpxe7fu0cj_hp_relaxed.owl Anti-ANNA-2 antibody ORCID:0000-0002-3387-1836 owl:Class CL:0002220 biolink:NamedThing interstitial cell of pineal gland A cell located between the pinealocytes. tmpxe7fu0cj_hp_relaxed.owl FMA:86575 tmeehan 2010-09-02T04:28:41Z cell owl:Class UBERON:0001279 biolink:NamedThing portal triad A multi-organ-part structure that consists of three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel. tmpxe7fu0cj_hp_relaxed.owl trias hepatica NCIT:C33342|MA:0002499|FMA:17523|UMLS:C0227514 Portal:triad.JPG uberon owl:Class The misnomer 'portal triad' traditionally has included only the first three structures, and was named before lymphatic vessels were discovered in the structure. It can refer both to the largest branch of each of these vessels running inside the hepatoduodenal ligament, and to the smaller branches of these vessels inside the liver. UBERON:0000930 biolink:NamedThing stomodeum Anterior part of the embryonic digestive tract that develops into a mouth. The stomodeum includes as parts an invagination of the ectoderm and the stomodeal cavity. tmpxe7fu0cj_hp_relaxed.owl stomodaeum|stomodeal-hypophyseal primordium|oral pit|mouth pit|oral ectoderm|mouth primordium|stomatodeum|primitive oral cavity FMA:295846|BTO:0004224|EHDAA2:0001929|EMAPA:16263|Wikipedia:Stomodeum|NCIT:C34306|TAO:0001290|ZFA:0001290|UMLS:C1514977|XAO:0000269|FBbt:00000439|TGMA:0000135 http://upload.wikimedia.org/wikipedia/commons/9/93/Gray977.png consider indicating location. e.g. anterior. Note some AOs place this as part of oral opening, but it's not clear when this structure comes into existence uberon owl:Class Anterior part of the embryonic alimentary canal formed as an invagination of the ectoderm; the future mouth.[TAO]|the primordial mouth region of the developing head, initially a midline ectodermal depression between the forebrain bulge (cranially) and the heart bulge (caudally) and between the maxillary and mandibular components of the first pharyngeal arch; the stomodeum is separated from the anterior end of the foregut by the buccopharyngeal membrane; the mouth is developed partly from the stomodeum, and partly from the floor of the anterior portion of the foregut; the lips, teeth, and gums are formed from the walls of the stomodeum, but the tongue is developed in the floor of the pharynx stomodeal This class groups together disparate structures as all being the anterior part of the early metazoan digestive tract and precursor of the mouth. However, the developmental processes vary, so this class may be split in future. E.g. in mammals it is a rostral depression surrounded by prominences. Outgrowth of the prominences produces a stomodeal cavity. UBERON:0007644 biolink:NamedThing thoracic lymph node A lymph node that is part of a thorax. Includes lymph nodes of the lungs and mediastinal lymph nodes. tmpxe7fu0cj_hp_relaxed.owl deep thoracic lymph node|lymph node of thorax FMA:12772|UMLS:C0229745|NCIT:C33769 uberon owl:Class UBERON:0003317 biolink:NamedThing odontogenic papilla of incisor An odontogenic papilla that is part of a incisor tooth [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl incisor odontogenic papilla|incisor tooth odontogenic papilla|incisor dental papilla|odontogenic papilla of incisor tooth MA:0003231|EMAPA:32893 uberon owl:Class HP:0008073 biolink:NamedThing Low maternal serum estriol An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age. tmpxe7fu0cj_hp_relaxed.owl Low maternal serum estriol UMLS:C4024734 human_phenotype owl:Class HP:0200148 biolink:NamedThing Abnormal liver function tests during pregnancy tmpxe7fu0cj_hp_relaxed.owl Abnormal liver function tests during pregnancy, resolves postpartum|Abnormal liver function tests during pregnancy UMLS:C4021883|UMLS:C2750654 sebastiankohler 2013-06-13T01:01:21Z human_phenotype owl:Class HP:0002910 biolink:NamedThing Elevated hepatic transaminase Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. tmpxe7fu0cj_hp_relaxed.owl Elevated serum transaminases|Abnormal liver function|High liver enzymes|Elevated liver enzymes|Elevated transaminases|Abnormal liver function tests|Subclinical abnormal liver function tests|Increased liver enzymes|Increased transaminases|Abnormal liver enzymes|Increased liver function tests|Elevated liver function tests|Raised liver enzymes SNOMEDCT_US:75183008|UMLS:C0438237|SNOMEDCT_US:166643006|MSH:D008107|SNOMEDCT_US:166603001|UMLS:C0235996|UMLS:C0151766|UMLS:C1848701|UMLS:C0438717|UMLS:C0877359|UMLS:C0086565|UMLS:C1842003 HP:0003156|HP:0006578|HP:0001411|HP:0008342|HP:0008267|HP:0003293|HP:0006567|HP:0003143 owl:Class HP:0006237 biolink:NamedThing Prominent interphalangeal joints tmpxe7fu0cj_hp_relaxed.owl Prominent hinge joints UMLS:C1859115 human_phenotype owl:Class HP:0011588 biolink:NamedThing Cervical aortic arch The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:253657003|UMLS:C0345065 peter 2012-04-08T01:37:51Z human_phenotype owl:Class HP:0011587 biolink:NamedThing Abnormal branching pattern of the aortic arch A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023282 The normal aortic arch crosses the left mainstem bronchus and descends in the left paravertebral gutter. The coronary arteries arise from the aortic sinuses. The first branch of the aorta is normally the right brachiocephalic artery, then the left common carotid artery, then the left subclavian artery. Abnormal branching refers to any deviance from the norm of the origin or course of these branches or the proximal vertebral arteries. An anomaly of the aortic arch that results in complete encirclement of the trachea and oesophagus by vascular structures is a vascular ring. peter 2012-04-08T01:34:42Z human_phenotype owl:Class UBERON:0004488 biolink:NamedThing musculature of pes Any collection of muscles that is part of a foot [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl musculature of foot|muscle group of foot|set of muscles of foot|foot musculature FMA:50214 currently defined by location rather than attachment uberon owl:Class UBERON:0004482 biolink:NamedThing musculature of lower limb Any collection of muscles that is part of a hindlimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl set of muscles of free lower limb|free lower limb musculature|musculature of free lower limb|muscle group of free lower limb FMA:50399 currently defined by location rather than attachment uberon owl:Class GO:0034769 biolink:NamedThing basement membrane disassembly The controlled breakdown of the basement membrane in the context of a normal process such as imaginal disc eversion. tmpxe7fu0cj_hp_relaxed.owl basal lamina disassembly Note that this term has no relationship to 'membrane disassembly ; GO:0030397' because the basement membrane is not a lipid bilayer. dph 2009-08-13T11:27:24Z GO:0060881 biological_process owl:Class GO:0071711 biolink:NamedThing basement membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the basement membrane. tmpxe7fu0cj_hp_relaxed.owl basement membrane organisation Note that this term has no relationship to 'membrane organization ; GO:0061024' because the basement membrane is not a lipid bilayer. mah 2010-03-10T11:57:10Z biological_process owl:Class NBO:0000268 biolink:NamedThing dementia HP:0000726 tmpxe7fu0cj_hp_relaxed.owl 2011-04-04T09:01:50Z George Gkoutos behavior_ontology owl:Class UBERON:0015089 biolink:NamedThing distal carpal bone 2 pre-cartilage condensation A distal carpal bone 2 endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0004100 biolink:NamedThing Abnormal 2nd finger morphology An anomaly of the second finger, also known as the index finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the 2nd finger|Abnormality of index finger UMLS:C4021683 human_phenotype owl:Class HP:0002951 biolink:NamedThing Partial absence of cerebellar vermis Congenital absence of a part of the vermis of cerebellum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025667 human_phenotype owl:Class HP:0007281 biolink:NamedThing Developmental stagnation A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills. tmpxe7fu0cj_hp_relaxed.owl Developmental arrest UMLS:C1848980 HP:0007198|HP:0007130 human_phenotype owl:Class HP:0012759 biolink:NamedThing Neurodevelopmental abnormality A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022737 This term should be used to describe abnormalities with onset in the developmental period. peter 2014-04-03T12:20:28Z human_phenotype owl:Class HP:0008113 biolink:NamedThing Multiple plantar creases tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861873 human_phenotype owl:Class HP:0000002 biolink:NamedThing Abnormality of body height Deviation from the norm of height with respect to that which is expected according to age and gender norms. tmpxe7fu0cj_hp_relaxed.owl Abnormality of body height UMLS:C4025901 peter 2008-02-27T02:20:00Z owl:Class UBERON:0022296 biolink:NamedThing inferior palpebral branch of infra-orbital nerve A nerve that innervates a lower eyelid and is a branch of the infra-orbital branch of the maxillary nerve. tmpxe7fu0cj_hp_relaxed.owl rami palpebrales inferiores nervi infraorbitalis FMA:52983 uberon owl:Class UBERON:0022298 biolink:NamedThing lower eyelid nerve A nerve that innervates a lower eyelid. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0011363 biolink:NamedThing cranial lymph vasculature A lymph vasculature that is part of a head. tmpxe7fu0cj_hp_relaxed.owl set of lymphatic vessels of head|cranial lymph vessels|cranial lymph vessel|cranial lymphatics|set of cranial lymphatic vessels ZFA:0005298|FMA:224562|TAO:0005298 uberon owl:Class UBERON:0004536 biolink:NamedThing lymph vasculature A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep. tmpxe7fu0cj_hp_relaxed.owl set of lymphatic vessels|trunci et ductus lymphatici|lymphatic vessels set|lymph vessels|lymphatic trunks and ducts|lymphatic vessel network|lymphatic vasculature FMA:63815|ZFA:0005105|TAO:0005105 consider merging with parent uberon owl:Class A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep.[TAO] HP:0200109 biolink:NamedThing Absent/shortened outer dynein arms tmpxe7fu0cj_hp_relaxed.owl Respiratory cilia have shortened or absent outer dynein arms UMLS:C2750161 sebastiankohler 2013-06-05T12:17:14Z human_phenotype owl:Class CHEBI:48378 biolink:NamedThing carboximidic acid tmpxe7fu0cj_hp_relaxed.owl carboximidic acids|carboximidic acid chebi_ontology owl:Class CHEBI:48377 biolink:NamedThing imidic acid Compounds derived from oxoacids RkE(=O)l(OH)m (l =/= 0) by replacing =O by =NR; thus tautomers of amides. In organic chemistry an unspecified imidic acid is generally a carboximidic acid, RC(=NR)(OH). tmpxe7fu0cj_hp_relaxed.owl imidic acid|imidic acids|imino acids chebi_ontology owl:Class HP:0003647 biolink:NamedThing Electron transfer flavoprotein-ubiquinone oxidoreductase defect A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025586 human_phenotype owl:Class UBERON:0003230 biolink:NamedThing epithelium of carpal region An epithelium that is part of a wrist [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of wrist|wrist epithelial tissue|wrist epithelium|carpal region epithelial tissue|carpal region epithelium|epithelial tissue of carpal region|epithelium of wrist EHDAA2:0000219|EHDAA:5198 uberon owl:Class UBERON:0006932 biolink:NamedThing vestibular epithelium An epithelium that is part of a vestibular labyrinth. tmpxe7fu0cj_hp_relaxed.owl inner ear vestibular component epithelium|vestibular sensory epithelium|epithelium of vestibular labyrinth MA:0002892|RETIRED_EHDAA2:0000834|BTO:0005581|EMAPA:32884|FMA:75606|EMAPA:35921 uberon owl:Class HP:0003401 biolink:NamedThing Paresthesia Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. tmpxe7fu0cj_hp_relaxed.owl Paresthesias|Tingling|Pins and needles feeling SNOMEDCT_US:91019004|UMLS:C0030554|MSH:D010292 HP:0002082 human_phenotype owl:Class HP:0033747 biolink:NamedThing Abnormal exteroceptive sensation A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes. tmpxe7fu0cj_hp_relaxed.owl 2021-04-21 10:58:44+00:00 peter owl:Class UBERON:0007617 biolink:NamedThing synovial cavity of joint An anatomical cavity that surrounded_by a synovial joint. tmpxe7fu0cj_hp_relaxed.owl joint cavity|articular cavity (synovial joint)|cavitas articularis (junctura synovialis)|cavity of synovial joint|synovial cavity FMA:11356 uberon owl:Class PR:P04040 biolink:NamedThing catalase (human) A catalase that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl CAT|hCAT UniProtKB:P04040 Category=organism-gene. protein owl:Class UBERON:0002478 biolink:NamedThing orbitosphenoid The bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young. tmpxe7fu0cj_hp_relaxed.owl alae parvae|lesser wing of sphenoid bone|orbitosphenoids|ala minor ossis sphenoidalis|lesser wing of sphenoid|ingrassia's process|ala minor (os sphenoidale)|lesser wing of sphenoidal bone|orbitosphenoid bone MA:0002773|EMAPA:18719|FMA:52869|VHOG:0001153|AAO:0000345|TAO:0000253|ZFA:0000253 http://upload.wikimedia.org/wikipedia/commons/3/35/Gray145.png uberon owl:Class Endochondral ossification of the lateral sides of the braincase.[AAO]|Large median unpaired cartilage bone consisting of two diverging plates. Positioned medial to the eye. The orbitosphenoid develops from the Trabeculae communis and forms the anterior and anterolateral boundary of the orbital foramen and constitutes a significant part of the sidewalls and floor of the cranial cavity. Bordered by the lateral ethmoid anteriorly, and the pterosphenoid posteriorly, The orbitosphenoid may extend ventrally to meet the parasphenoid. In the adult, the orbitosphenoid is fused ventrally to the parasphenoid via a thin sheet of bone.[TAO] relationship type change: overlaps neurocranium (TAO:0001580) CHANGED TO: develops_from neurocranium (UBERON:0001703)[TAO]|relationship loss: overlaps orbitosphenoid-lateral ethmoid joint (TAO:0001941)[TAO]|relationship loss: develops_from taenia marginalis anterior (TAO:0001505)[TAO]|relationship type change: overlaps neurocranium (TAO:0001580) CHANGED TO: part_of neurocranium (UBERON:0001703)[TAO]|relationship loss: overlaps pterosphenoid-orbitosphenoid joint (TAO:0001831)[TAO]|relationship loss: overlaps orbitosphenoid-prootic joint (TAO:0001794)[TAO]|relationship loss: part_of braincase and otic capsule skeleton (AAO:0000052)[AAO] CHEBI:30089 biolink:NamedThing acetate A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of acetic acid. tmpxe7fu0cj_hp_relaxed.owl ACETATE ION|Azetat|MeCO2 anion|Ethanoat|ethanoate|CH3-COO(-)|acetic acid, ion(1-)|acetate -1 C2H3O2 InChI=1S/C2H4O2/c1-2(3)4/h1H3,(H,3,4)/p-1 QTBSBXVTEAMEQO-UHFFFAOYSA-M 59.04402 59.01385 CC([O-])=O PDBeChem:ACT|PMID:17190852|PMID:22371380|PMID:22211106|CAS:71-50-1|DrugBank:DB03166|Gmelin:1379|Reaxys:1901470|UM-BBD_compID:c0050|Beilstein:1901470|MetaCyc:ACET|KEGG:C00033|Wikipedia:Acetate CHEBI:22165|CHEBI:40480|CHEBI:13704 chebi_ontology owl:Class HP:0030223 biolink:NamedThing Perseveration Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact. tmpxe7fu0cj_hp_relaxed.owl Perseverative behavior|Perseverative behaviour SNOMEDCT_US:44515000|UMLS:C0233651 owl:Class HP:0010358 biolink:NamedThing Abnormal morphology of the proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the innermost bone of the 2nd toe UMLS:C4023883 doelkens 2009-07-16T11:45:34Z owl:Class UBERON:0007727 biolink:NamedThing interphalangeal joint of pedal digit 4 An interphalangeal joint of pes that is part of a pedal digit 4. tmpxe7fu0cj_hp_relaxed.owl interphalangeal joint of pedal digit IV|interphalangeal joint of fourth digit of foot|interphalangeal joint of fourth toe EMAPA:26466|FMA:35362 uberon owl:Class UBERON:0007721 biolink:NamedThing interphalangeal joint of pes The interphalangeal articulations of the foot (articulations of the phalanges) are ginglymoid joints, and each has a plantar and two collateral ligaments. The arrangement of these ligaments is similar to that in the metatarsophalangeal articulations: the Extensor tendons supply the places of dorsal ligaments. tmpxe7fu0cj_hp_relaxed.owl interphalangeal joint of foot|toe joint|foot interphalangeal joint|hindlimb digit inter-phalangeal joint|interphalangeal joint of toe FMA:35225|NCIT:C33789|UMLS:C0040356|NCIT:C32867|MESH:D014033|EMAPA:36337 uberon owl:Class HP:0009417 biolink:NamedThing Pseudoepiphyses of the 3rd finger A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl Pseudoepiphyses of middle finger phalanges UMLS:C4021480 doelkens 2009-01-14T02:01:59Z HP:0004163 human_phenotype owl:Class HP:0007465 biolink:NamedThing Honeycomb palmoplantar hyperkeratosis Abnormal thickening of the skin on the palms and soles with an honeycomb pattern. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866032 owl:Class GO:0055080 biolink:NamedThing cation homeostasis Any process involved in the maintenance of an internal steady state of cations within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:16919 biolink:NamedThing creatine A glycine derivative having methyl and amidino groups attached to the nitrogen. tmpxe7fu0cj_hp_relaxed.owl N-methyl-N-guanylglycine|(N-methylcarbamimidamido)acetic acid|N-[amino(imino)methyl]-N-methylglycine|N-[(E)-AMINO(IMINO)METHYL]-N-METHYLGLYCINE|N-Methyl-N-guanylglycine|Creatine|N-carbamimidoyl-N-methylglycine|N-amidinosarcosine|(alpha-methylguanido)acetic acid|((amino(imino)methyl)(methyl)amino)acetic acid|Creatin|alpha-Methylguanidino acetic acid|N-(aminoiminomethyl)-N-methylglycine|Methylglycocyamine|Kreatin 0 C4H9N3O2 InChI=1S/C4H9N3O2/c1-7(4(5)6)2-3(8)9/h2H2,1H3,(H3,5,6)(H,8,9) CVSVTCORWBXHQV-UHFFFAOYSA-N 131.13328 131.06948 CN(CC(O)=O)C(N)=N PMID:7752905|PMID:21698493|Drug_Central:4661|CAS:57-00-1|PMID:22252611|PMID:12878267|PMID:11483809|PMID:11867929|PMID:19651674|PMID:21660517|PMID:17416441|DrugBank:DB00148|Beilstein:907175|PMID:18555535|MetaCyc:CREATINE|Reaxys:907175|PMID:12085493|HMDB:HMDB0000064|PMID:22465051|KEGG:C00300|PMID:21556832|Gmelin:240513|PMID:22521466|PMID:17190852|PMID:22101931|PMID:19741514|PMID:22429992|PMID:16445883|PMID:19968328|PMID:11356982|PMID:19082141|PDBeChem:CRN|PMID:17253521|PMID:12184144|Wikipedia:Creatine|PMID:22038587|PMID:22422801|PMID:22347384|PMID:22386973|PMID:22196490|Chemspider:566 CHEBI:23404|CHEBI:41678|CHEBI:3909|CHEBI:14028 chebi_ontology owl:Class CHEBI:24436 biolink:NamedThing guanidines Any organonitrogen compound containing a carbamimidamido (guanidino) group. Guanidines have the general structure (R(1)R(2)N)(R(3)R(4)N)C=N-R(5) and are related structurally to amidines and ureas. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class GO:0042103 biolink:NamedThing positive regulation of T cell homeostatic proliferation Any process that activates or increases the rate or extent of resting T cell proliferation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of T lymphocyte homeostatic proliferation|up regulation of T cell homeostatic proliferation|activation of T cell homeostatic proliferation|positive regulation of T-lymphocyte homeostatic proliferation|positive regulation of T-cell homeostatic proliferation|stimulation of T cell homeostatic proliferation|up-regulation of T cell homeostatic proliferation|upregulation of T cell homeostatic proliferation|positive regulation of resting T cell proliferation biological_process owl:Class GO:0005879 biolink:NamedThing axonemal microtubule A microtubule in the axoneme of a eukaryotic cilium or flagellum; an axoneme contains nine modified doublet microtubules, which may or may not surround a pair of single microtubules. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class UBERON:0014404 biolink:NamedThing female anatomical structure A part of the body present only in females. tmpxe7fu0cj_hp_relaxed.owl AEO:0000176 uberon owl:Class UBERON:0014402 biolink:NamedThing sex-specific anatomical structure A part of the body present only in a specific gender. tmpxe7fu0cj_hp_relaxed.owl sex-specific|gender-specific anatomical structure|gender-specific WBbt:0005752|AEO:0000174 uberon owl:Class UBERON:0011930 biolink:NamedThing preganglionic parasympathetic fiber A cholinergic axonal fibers projecting from the CNS to a parasympathetic ganglion. tmpxe7fu0cj_hp_relaxed.owl parasympathetic preganglionic fiber Wikipedia:Preganglionic_fibers uberon owl:Class GO:2000833 biolink:NamedThing positive regulation of steroid hormone secretion Any process that activates or increases the frequency, rate or extent of steroid hormone secretion. tmpxe7fu0cj_hp_relaxed.owl bf 2011-07-26T08:38:51Z biological_process owl:Class GO:2000831 biolink:NamedThing regulation of steroid hormone secretion Any process that modulates the frequency, rate or extent of steroid hormone secretion. tmpxe7fu0cj_hp_relaxed.owl bf 2011-07-26T08:38:46Z biological_process owl:Class GO:0070169 biolink:NamedThing positive regulation of biomineral tissue development Any process that activates or increases the frequency, rate or extent of biomineral tissue development, the formation of hard tissues that consist mainly of inorganic compounds. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025358 biolink:NamedThing Uveal ectropion Presence of iris pigment epithelium on the anterior surface of the iris. tmpxe7fu0cj_hp_relaxed.owl Ectropion uveae 2017-02-17 12:10:49+00:00 HPO:probinson owl:Class GO:0002615 biolink:NamedThing positive regulation of monocyte antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of monocyte antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of monocyte antigen processing and presentation|up regulation of monocyte antigen processing and presentation|activation of monocyte antigen processing and presentation|stimulation of monocyte antigen processing and presentation|upregulation of monocyte antigen processing and presentation biological_process owl:Class HP:0031295 biolink:NamedThing Left atrial enlargement Increase in size of the left atrium. tmpxe7fu0cj_hp_relaxed.owl Enlarged heart left atrium 2017-08-13 21:38:04+00:00 Fyler:3011|Fyler:3020 peter owl:Class UBERON:0005465 biolink:NamedThing obturator nerve The obturator nerve arises from the ventral divisions of the second, third, and fourth lumbar nerves; the branch from the third is the largest, while that from the second is often very small. tmpxe7fu0cj_hp_relaxed.owl nervus obturatorius EHDAA:5657|FMA:16487|EHDAA2:0001282|MESH:D009776|NCIT:C75909|UMLS:C0028783 http://upload.wikimedia.org/wikipedia/commons/b/b7/Gray344.png uberon owl:Class HP:0008962 biolink:NamedThing Calf muscle hypoplasia Underdevelopment of the muscuklature of the calf. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped calf muscles|Hypoplastic calf muscles UMLS:C3805450 human_phenotype owl:Class HP:0031745 biolink:NamedThing Superior rectus muscle overaction Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:11:53+00:00 peter owl:Class HP:0025603 biolink:NamedThing Abnormal superior rectus muscle physiology A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 22:28:02+00:00 HPO:probinson owl:Class HP:0100430 biolink:NamedThing Broad proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Broad innermost bone of the little toe|Broad innermost bone of the pinky toe|Broad innermost bone of the pinkie toe UMLS:C4022097 human_phenotype owl:Class HP:0010384 biolink:NamedThing Broad phalanges of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Broad bones of the pinky toe|Broad bones of the pinkie toe|Broad bones of the little toe UMLS:C4023866 doelkens 2009-07-16T11:52:18Z human_phenotype owl:Class HP:0010235 biolink:NamedThing Pseudoepiphyses of the phalanges of the hand A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl Pseudoepiphysis of the fingers UMLS:C4021306 doelkens 2009-07-06T03:31:52Z HP:0009366 human_phenotype owl:Class HP:0410353 biolink:NamedThing Decreased complex N-glycan level An abnormal decrease in the concentration of complex N-glycans on glycoproteins. tmpxe7fu0cj_hp_relaxed.owl Increased truncated complex N-glycans on glycoproteins owl:Class HP:0410351 biolink:NamedThing Abnormal complex N-glycan level An abnormal concentration of complex N-glycans on glycoproteins. tmpxe7fu0cj_hp_relaxed.owl Abnormal concentration of complex N-glycans on glycoproteins owl:Class UBERON:0004492 biolink:NamedThing cardiac muscle tissue of cardiac septum A portion of cardiac muscle tissue that is part of a cardiac septum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl cardiac septum cardiac muscle tissue|cardiac septum muscle|cardiac septum myocardium|cardiac septum heart muscle FMA:226279 uberon owl:Class HP:0031369 biolink:NamedThing Colon perforation A hole (perforation) in the wall of the colon. tmpxe7fu0cj_hp_relaxed.owl Perforation of the colon 2017-09-02 01:29:52+00:00 peter owl:Class UBERON:0014649 biolink:NamedThing white matter of medulla oblongata A white matter that is part of a medulla oblongata. tmpxe7fu0cj_hp_relaxed.owl substantia alba medullae oblongatae|medullary white matter|white matter of medulla|white substance of medulla BAMS:mw|BIRNLEX:1414|BIRNLEX:1024|FMA:83944|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=778 uberon owl:Class UBERON:0019262 biolink:NamedThing white matter of myelencephalon A white matter that is part of the myelencephalon. tmpxe7fu0cj_hp_relaxed.owl myelencephalic white matter HBA:9298 uberon owl:Class UBERON:0012425 biolink:NamedThing striated border microvillus layer A microvillus layer that is striated and found in the intestine. tmpxe7fu0cj_hp_relaxed.owl striated border NCIT:C33634|FMA:70978 uberon owl:Class FMA class represents an individual microvillus GO:0071743 biolink:NamedThing IgE immunoglobulin complex, circulating A protein complex composed of two identical immunoglobulin heavy chains of the IgE isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpxe7fu0cj_hp_relaxed.owl IgE antibody Note that an IgE immunoglobulin complex has the function of antigen binding if a suitable antigen is available. mah 2010-03-24T01:44:53Z cellular_component owl:Class HP:0032669 biolink:NamedThing Myoclonic status epilepticus with coma A type of myoclonic status epilepticus in the presence of coma. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0000228 biolink:NamedThing Oral cavity telangiectasia Presence of telangiectases in the oral cavity. tmpxe7fu0cj_hp_relaxed.owl Spider veins of the mouth|Spider veins of the oral cavity|Angioectasias of the mouth|Angioectasias of the oral cavity|Oral cavity teleangiectasia UMLS:C4025877|UMLS:C4280667 human_phenotype owl:Class GO:0034504 biolink:NamedThing protein localization to nucleus A process in which a protein transports or maintains the localization of another protein to the nucleus. tmpxe7fu0cj_hp_relaxed.owl protein localization in nucleus|protein targeting to nucleus|protein localization in cell nucleus|protein localisation to nucleus 2012-11-07T15:45:54Z GO:0044744 biological_process owl:Class HP:0010078 biolink:NamedThing Bullet-shaped distal phalanx of the hallux An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped outermost bone of big toe UMLS:C4024067 doelkens 2009-05-29T12:16:28Z human_phenotype owl:Class HP:0010060 biolink:NamedThing Bullet-shaped hallux phalanx An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped phalanges of the hallux|Bullet-shaped bone of big toe UMLS:C4021342 doelkens 2009-05-29T12:10:46Z owl:Class HP:0008211 biolink:NamedThing Parathyroid agenesis Aplasia of the parathyroid gland. tmpxe7fu0cj_hp_relaxed.owl Parathyroid absence|Parathyroid aplasia SNOMEDCT_US:73291005|UMLS:C1321907|MSH:C563238 human_phenotype owl:Class UBERON:0018156 biolink:NamedThing malleal ligament A skeletal ligament that attaches to the malleus. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0018154 biolink:NamedThing ligament of middle ear A ligament that is part of a middle ear. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0008733 biolink:NamedThing Dysplastic testes tmpxe7fu0cj_hp_relaxed.owl UMLS:C1837380 human_phenotype owl:Class HP:0000982 biolink:NamedThing Palmoplantar keratoderma Abnormal thickening of the skin of the palms of the hands and the soles of the feet. tmpxe7fu0cj_hp_relaxed.owl Thickening of palms and soles|Palmar and plantar keratoderma SNOMEDCT_US:706885006|UMLS:C0022596|MSH:D007645 owl:Class PATO:0001550 biolink:NamedThing decreased sensitivity toward A sensitivity toward an external stimulus which is lower than normal/average. tmpxe7fu0cj_hp_relaxed.owl decreased sensitivity|low sensitivity toward quality owl:Class HP:0002463 biolink:NamedThing Language impairment Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. tmpxe7fu0cj_hp_relaxed.owl Language impairment|Language disorder UMLS:C0023015|SNOMEDCT_US:62305002|MSH:D007806 human_phenotype owl:Class HP:0100375 biolink:NamedThing Aplasia/hypoplasia of the proximal phalanx of the 3rd toe Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped innermost bone of 3rd toe|Absent/small innermost bone of 3rd toe UMLS:C4022116 owl:Class HP:0008736 biolink:NamedThing Hypoplasia of penis tmpxe7fu0cj_hp_relaxed.owl Underdeveloped penis SNOMEDCT_US:34911001|UMLS:C0266435 HP:0008632 owl:Class HP:0004188 biolink:NamedThing Abnormal 4th finger morphology tmpxe7fu0cj_hp_relaxed.owl Abnormality of the 4th finger|Abnormality of the ring finger UMLS:C4021680 human_phenotype owl:Class HP:0025116 biolink:NamedThing Fetal distress An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. tmpxe7fu0cj_hp_relaxed.owl Foetal distress 2016-11-01 10:13:06+00:00 Fetal distress in itself is a non-specific term as the various parameters characterizing the type and degree of distress are themselves ill defined. Nonethless the term is in broad clinical use and thus is included as an HPO term. It is preferable to annotate with more precise terms if possible. HPO:probinson owl:Class HP:0034059 biolink:NamedThing Abnormal fetal physiology Any functional anomaly of the fetus. tmpxe7fu0cj_hp_relaxed.owl Functional fetal anomaly 2021-11-27 19:03:33+00:00 peter owl:Class HP:0006055 biolink:NamedThing Ulnar deviated club hands tmpxe7fu0cj_hp_relaxed.owl UMLS:C1833881 human_phenotype owl:Class HP:0009487 biolink:NamedThing Ulnar deviation of the hand Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). tmpxe7fu0cj_hp_relaxed.owl Ulnar deviation of the hands|Ulnar deviation of hands SNOMEDCT_US:249757009|UMLS:C0241521 doelkens 2009-01-15T10:51:52Z human_phenotype owl:Class CHEBI:35664 biolink:NamedThing EC 1.1.1.34/EC 1.1.1.88 (hydroxymethylglutaryl-CoA reductase) inhibitor Any EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor that inhibits HMG-CoA reductases. Hydroxymethylglutaryl-CoA reductase inhibitors have been shown to lower directly cholesterol synthesis. The Enzyme Commission designation is EC 1.1.1.34 for the NADPH-dependent enzyme and EC 1.1.1.88 for an NADH-dependent enzyme. tmpxe7fu0cj_hp_relaxed.owl hydroxymethylglutaryl-CoA reductase inhibitors|hydroxymethylglutaryl-CoA reductase inhibitor|HMG-CoA reductase inhibitors|HMG-CoA reductase inhibitor Wikipedia:HMG-CoA_reductase|PMID:15531285|PMID:20467214|PMID:1464741 chebi_ontology owl:Class CHEBI:76835 biolink:NamedThing EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor An EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor that uses NAD(+) or NADP(+) as acceptor (EC 1.1.1.*). tmpxe7fu0cj_hp_relaxed.owl oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitors|EC 1.1.1.* inhibitors|oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitor|EC 1.1.1.* inhibitor|EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+)acceptor) inhibitors chebi_ontology owl:Class UBERON:0004507 biolink:NamedThing skeletal muscle tissue of temporalis A portion of skeletal muscle tissue that is part of a temporalis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:261740 uberon owl:Class HP:0004443 biolink:NamedThing Lambdoidal craniosynostosis A kind of craniosynostosis affecting the lambdoidal suture. tmpxe7fu0cj_hp_relaxed.owl Lambdoid suture synostosis|Lambdoid suture craniosynostosis UMLS:C1833340|MSH:D003398|SNOMEDCT_US:109417006 peter 2008-03-18T10:01:00Z HP:0004486 owl:Class CL:0008022 biolink:NamedThing endocardial cushion cell A mesenchymal cell of the endocardial cushion. These cells develop via an epithelial to mesenchymal transition when endocardial cells break cell-to-cell contacts and migrate into the cardiac jelly. Cells from this population form the heart septa and valves. tmpxe7fu0cj_hp_relaxed.owl owl:Class CL:0000569 biolink:NamedThing cardiac mesenchymal cell A mesenchymal cell found in the developing heart and that develops into some part of the heart. These cells derive from intra- and extra-cardiac sources, including the endocardium, epicardium, neural crest, and second heart field. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0100724 biolink:NamedThing Hypercoagulability An abnormality of coagulation associated with an increased risk of thrombosis. tmpxe7fu0cj_hp_relaxed.owl Blood hyperviscosity|Thrombophilia MSH:D019851|SNOMEDCT_US:76612001|UMLS:C0398623|SNOMEDCT_US:234467004 doelkens 2011-06-06T04:04:38Z human_phenotype owl:Class GO:0003212 biolink:NamedThing cardiac left atrium morphogenesis The process in which the left cardiac atrium is generated and organized. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T09:48:16Z biological_process owl:Class HP:0025146 biolink:NamedThing Foveal degeneration Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina. tmpxe7fu0cj_hp_relaxed.owl 2016-11-29 11:24:05+00:00 HPO:probinson owl:Class HP:0000608 biolink:NamedThing Macular degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. tmpxe7fu0cj_hp_relaxed.owl Pigmented macular degeneration UMLS:C0024437|SNOMEDCT_US:422338006 HP:0007694|HP:0007868 human_phenotype owl:Class GO:0120054 biolink:NamedThing intestinal motility Contractions of the intestinal tract that include peristalsis (moving contents onward) and non-peristaltic movement (moving contents back and forth). tmpxe7fu0cj_hp_relaxed.owl krc 2017-06-13T20:42:24Z biological_process owl:Class HP:0010531 biolink:NamedThing Spinal myoclonus Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3697670|SNOMEDCT_US:698836007 peter 2009-09-20T08:53:39Z human_phenotype owl:Class GO:0050000 biolink:NamedThing chromosome localization Any process in which a chromosome is transported to, or maintained in, a specific location. tmpxe7fu0cj_hp_relaxed.owl establishment and maintenance of chromosome localization|establishment and maintenance of chromosome position|chromosome localisation biological_process owl:Class HP:0031229 biolink:NamedThing Increased incisura length The length of the incisura from the upper to lower border is greater than that observed in the average population. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 12:58:49+00:00 peter owl:Class HP:0006112 biolink:NamedThing Expanded phalanges with widened medullary cavities tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969287 human_phenotype owl:Class UBERON:0018119 biolink:NamedThing left renal medulla interstitium A renal medulla interstitium that is part of a left kidney. tmpxe7fu0cj_hp_relaxed.owl medullary interstitial tissue of left kidney uberon owl:Class UBERON:0018113 biolink:NamedThing left kidney interstitium A kidney interstitium that is part of a left kidney. tmpxe7fu0cj_hp_relaxed.owl left renal stroma|stroma of left kidney FMA:74271 uberon owl:Class CHEBI:23217 biolink:NamedThing cholines tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:35267 biolink:NamedThing quaternary ammonium ion A derivative of ammonium, NH4(+), in which all four of the hydrogens bonded to nitrogen have been replaced with univalent (usually organyl) groups. tmpxe7fu0cj_hp_relaxed.owl quaternary ammonium ions|quaternary ammonium ion|quaternary ammonium|Quaternary amine +1 NR4 14.00670 14.00307 [*][N+]([*])([*])[*] KEGG:C06703 CHEBI:26470|CHEBI:8693 chebi_ontology owl:Class HP:0011361 biolink:NamedThing Congenital abnormal hair pattern A congenital abnormality of the distribution of hair growth. tmpxe7fu0cj_hp_relaxed.owl Abnormal hair pattern since birth UMLS:C4023398 peter 2012-03-01T08:39:51Z human_phenotype owl:Class HP:0010720 biolink:NamedThing Abnormal hair pattern An abnormality of the distribution of hair growth. tmpxe7fu0cj_hp_relaxed.owl Abnormal distribution of hair|Abnormal hair pattern UMLS:C4023721 sdoelken 2010-04-20T09:53:15Z human_phenotype owl:Class CL:0000778 biolink:NamedThing mononuclear osteoclast A specialized mononuclear osteoclast associated with the absorption and removal of bone, precursor of multinuclear osteoclasts. tmpxe7fu0cj_hp_relaxed.owl Morphology: mononuclear, highly vesicular. cell owl:Class HP:0012089 biolink:NamedThing Arteritis Arterial inflammation. tmpxe7fu0cj_hp_relaxed.owl Inflammation of artery MSH:D001167|UMLS:C0003860|SNOMEDCT_US:52089001 peter 2012-08-20T09:15:19Z human_phenotype owl:Class UBERON:0010890 biolink:NamedThing pelvic complex muscle Muscles of the pelvic girdle, hindlimb or pelvic fin. tmpxe7fu0cj_hp_relaxed.owl muscle of lower limb|pelvic girdle or hind limb muscle|pelvic girdle and hind limb muscles|pelvic girdle or posterior limb muscle|lower limb muscle|muscle of pelvic girdle and leg MA:0000663|EMAPA:32634|FMA:9622|AAO:0000218 uberon owl:Class Muscles of the pelvic girdle, thigh, leg (crus), and foot (pes).[AAO] UBERON:0004806 biolink:NamedThing vas deferens epithelium An epithelium that is part of a vas deferens [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelium of vas deferen|sperm duct epithelium|epithelial tissue of sperm duct|epithelial tissue of ductus deferens|vas deferens epithelial tissue|sperm duct epithelial tissue|vas deferen epithelium|deferent duct epithelial tissue|ductus deferens epithelium|epithelial tissue of deferent duct|epithelium of vas deferens|epithelial tissue of vas deferen|epithelium of deferent duct|epithelial tissue of vas deferens|deferent duct epithelium|epithelium of ductus deferens|vas deferen epithelial tissue|epithelium of sperm duct|ductus deferens epithelial tissue UMLS:C1710617|FMA:225317|NCIT:C49315|MA:0001749|EMAPA:29274 uberon owl:Class GO:0060921 biolink:NamedThing sinoatrial node cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a sinoatrial (SA) node cell. SA node cells are pacemaker cells that are found in the sinoatrial node. tmpxe7fu0cj_hp_relaxed.owl SAN cell differentiation|sinus node cell differentiation|SA node cell differentiation dph 2009-09-29T11:03:30Z biological_process owl:Class CHEBI:38275 biolink:NamedThing pyrrolidinone tmpxe7fu0cj_hp_relaxed.owl pyrrolidinones chebi_ontology owl:Class CHEBI:38260 biolink:NamedThing pyrrolidines Any of a class of heterocyclic amines having a saturated five-membered ring. tmpxe7fu0cj_hp_relaxed.owl CHEBI:38191|CHEBI:26922 chebi_ontology owl:Class UBERON:0001700 biolink:NamedThing geniculate ganglion The group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve). tmpxe7fu0cj_hp_relaxed.owl ganglion genicularum|facial ganglion|internal genu|gVII|facial VII ganglion|geniculate|ganglion geniculi|geniculate ganglion|genicular ganglion|ganglion geniculi nervi facialis EMAPA:17569|NCIT:C12721|ZFA:0001291|FMA:53414|UMLS:C0017406|EFO:0003669|EHDAA:6644|GAID:718|EHDAA:5567|MA:0001076|EHDAA2:0000491|TAO:0001291|BAMS:GgVII|MESH:D005830|EHDAA2:0004623|VHOG:0000707 http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray789.png resolve facial VII vs geniculate (see EHDAA2) uberon owl:Class These (the epibranchial placodes) are focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches in all vertebrates, and they produce the neuroblasts which migrate and condense to form the distal cranial ganglia: the geniculate, petrosal and nodose ganglia. (...) The one substantial difference between the vertebrate pharyngeal arches and those of the protochordates is the presence of the epibranchial placodes but the evolution of these structures was undoubtedly driven by the endoderm.[well established][VHOG] HP:0032034 biolink:NamedThing Upper eyelid laxity Abnormally lax upper eyelid associated with tissue relaxation. tmpxe7fu0cj_hp_relaxed.owl 2018-09-01 14:52:53+00:00 peter owl:Class HP:0031880 biolink:NamedThing Eyelid laxity Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test. tmpxe7fu0cj_hp_relaxed.owl Lid laxity 2018-05-06 15:42:01+00:00 peter owl:Class HP:0031860 biolink:NamedThing Abnormal heart rate variability Any abnormality in the variability of the time interval between successive heartbeats. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 21:02:07+00:00 peter owl:Class GO:0002701 biolink:NamedThing negative regulation of production of molecular mediator of immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of the production of molecular mediator of immune response. tmpxe7fu0cj_hp_relaxed.owl inhibition of production of molecular mediator of immune response|down regulation of production of molecular mediator of immune response|downregulation of production of molecular mediator of immune response|down-regulation of production of molecular mediator of immune response biological_process owl:Class HP:0011540 biolink:NamedThing Congenitally corrected transposition of the great arteries The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta. tmpxe7fu0cj_hp_relaxed.owl Ventricular inversion|L-transposition SNOMEDCT_US:56743000|UMLS:C0232301|UMLS:C0344616|ICD-10:Q20.5|SNOMEDCT_US:83799000|EPCC:01.01.03|MSH:C535426 peter 2012-04-07T10:48:56Z human_phenotype owl:Class UBERON:0014446 biolink:NamedThing acetabular notch The acetabulum presents below a deep notch, the acetabular notch, which is continuous with a circular non-articular depression, the acetabular fossa, at the bottom of the cavity: this depression is perforated by numerous apertures, and lodges a mass of fat. The notch is converted into a foramen by the transverse ligament; through the foramen nutrient vessels and nerves enter the joint; the margins of the notch serve for the attachment of the ligament of the head of the femur. tmpxe7fu0cj_hp_relaxed.owl FMA:16944 uberon owl:Class HP:0033903 biolink:NamedThing Arcuate artery endoarterial hypercellularity Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney. tmpxe7fu0cj_hp_relaxed.owl Endoarterial hypercellularity within arcuate artery 2021-06-23 22:37:34+00:00 peter owl:Class HP:0033901 biolink:NamedThing Abnormal arcuate artery endothelium morphology Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 22:31:30+00:00 peter owl:Class GO:1904950 biolink:NamedThing negative regulation of establishment of protein localization Any process that stops, prevents or reduces the frequency, rate or extent of establishment of protein localization. tmpxe7fu0cj_hp_relaxed.owl down regulation of establishment of protein localisation|inhibition of protein positioning|down regulation of protein positioning|downregulation of establishment of protein localization|down regulation of protein recruitment|down-regulation of protein recruitment|inhibition of establishment of protein localisation|negative regulation of protein positioning|inhibition of establishment of protein localization|negative regulation of establishment of protein localisation|inhibition of protein recruitment|negative regulation of protein recruitment|down-regulation of establishment of protein localisation|downregulation of protein positioning|downregulation of protein recruitment|downregulation of establishment of protein localisation|down-regulation of protein positioning|down-regulation of establishment of protein localization|down regulation of establishment of protein localization mec 2016-02-05T09:59:24Z biological_process owl:Class GO:1904409 biolink:NamedThing regulation of secretory granule organization Any process that modulates the frequency, rate or extent of secretory granule organization. tmpxe7fu0cj_hp_relaxed.owl regulation of secretory granule organization and biogenesis|regulation of secretory granule organisation sl 2015-06-25T19:40:42Z biological_process owl:Class UBERON:0008523 biolink:NamedThing infrahyoid muscle The infrahyoid muscles are a group of four pairs of muscles in the anterior part of the neck. (The term infrahyoid refers to the region below to the hyoid bone in the neck. ) Collectively, they are referred to as the strap muscles, because the muscles are long and flat much like a strap. tmpxe7fu0cj_hp_relaxed.owl musculi infrahyoidei|infrahyoid muscle|infrahyoidala|strap muscle|infrahyoid|strap muscles|musculus infrahyoideus FMA:13338 Infrahyoid:muscles.png uberon owl:Class HP:0100818 biolink:NamedThing Long thorax Increased inferior to superior extent of the thorax. tmpxe7fu0cj_hp_relaxed.owl Long rib cage UMLS:C0575484|SNOMEDCT_US:298710001 doelkens 2011-06-09T04:51:15Z human_phenotype owl:Class HP:0100625 biolink:NamedThing Enlarged thorax tmpxe7fu0cj_hp_relaxed.owl Wide rib cage|Wide thorax UMLS:C4020962 doelkens 2010-12-28T04:14:55Z owl:Class GO:0002225 biolink:NamedThing positive regulation of antimicrobial peptide production Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide production. tmpxe7fu0cj_hp_relaxed.owl activation of antimicrobial peptide production|stimulation of antimicrobial peptide production|up regulation of antimicrobial peptide production|antimicrobial peptide induction|upregulation of antimicrobial peptide production|up-regulation of antimicrobial peptide production biological_process owl:Class GO:0071169 biolink:NamedThing establishment of protein localization to chromatin The directed movement of a protein to a part of a chromosome that is organized into chromatin. tmpxe7fu0cj_hp_relaxed.owl establishment of protein localisation to chromatin mah 2009-11-20T11:52:43Z biological_process owl:Class GO:0048562 biolink:NamedThing embryonic organ morphogenesis Morphogenesis, during the embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010090 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the innermost bone of the big toe UMLS:C4024057 doelkens 2009-05-29T12:17:16Z human_phenotype owl:Class HP:0001520 biolink:NamedThing Large for gestational age The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. tmpxe7fu0cj_hp_relaxed.owl Fetal macrosomia|Macrosomia|Foetal macrosomia|Birthweight > 90th percentile|Birth weight > 90th percentile|Macrosomia, neonatal UMLS:C1848395 Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate. HP:0001825 human_phenotype owl:Class HP:0004324 biolink:NamedThing Increased body weight Abnormally increased body weight. tmpxe7fu0cj_hp_relaxed.owl Weight gain|Increased body weight SNOMEDCT_US:161831008|MSH:D015430|UMLS:C0043094|SNOMEDCT_US:262286000|SNOMEDCT_US:8943002 peter 2008-02-27T03:21:00Z HP:0045083 human_phenotype owl:Class HP:0010910 biolink:NamedThing Hypervalinemia An increased concentration of valine in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood valine concentration MSH:C536524|UMLS:C0268573|SNOMEDCT_US:47719001 peter 2010-12-08T08:44:27Z human_phenotype owl:Class HP:0010914 biolink:NamedThing Abnormal circulating valine concentration Any deviation from the normal circulation of valine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of valine metabolism UMLS:C4023656 peter 2010-12-08T08:51:14Z human_phenotype owl:Class CHEBI:35344 biolink:NamedThing 21-hydroxy steroid tmpxe7fu0cj_hp_relaxed.owl 21-hydroxysteroids|21-hydroxy steroids|21-Hydroxysteroid KEGG:C02506 CHEBI:13596|CHEBI:1300|CHEBI:19803 chebi_ontology owl:Class UBERON:0001680 biolink:NamedThing lacrimal bone The irregularly thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla. tmpxe7fu0cj_hp_relaxed.owl infraorbital 1|lacrymal bone - infraorbital 1|lacrymal bone|lacrimal|lacrimal - infraorbital 1|os lacrimale|lachrymal bone|lachrymal bone - infraorbital 1 FMA:52741|NCIT:C32906|UMLS:C0222733|VHOG:0001149|MA:0001486 http://upload.wikimedia.org/wikipedia/commons/2/2d/Gray164.png uberon owl:Class The infraorbital bone 1 of actinopterygians is homologous with the lacrimal bone (...).[well established][VHOG] In early lobe-finned fishes and ancestral tetrapods, the lacrimal bone is a relatively large and robust bone, running from the orbit to the nostrils. It forms part of the side of the face, between the nasal bones and the maxilla. In primitive forms, it is often accompanied by a much smaller septomaxilla bone, lying immediately behind the nasal opening, but this is lost in most modern species. The lacrimal bone is often smaller in living vertebrates, and is no longer always directly associated with the nasal opening, although it retains its connection with the orbit. The bone is entirely absent in living amphibians, as well as some reptilian species[ISBN 0-03-910284-X] UBERON:0004812 biolink:NamedThing male prepuce epithelium An epithelium that is part of a prepuce of penis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of prepuce|prepuce of penis epithelial tissue|penile prepuce epithelium|prepuce epithelial tissue|epithelial tissue of penile prepuce|epithelium of prepuce|foreskin epithelial tissue|epithelial tissue of foreskin|epithelium of penile prepuce|foreskin epithelium|epithelium of foreskin|epithelium of prepuce of penis|epithelial tissue of prepuce of penis|penile prepuce epithelial tissue|prepuce epithelium|prepuce of penis epithelium UMLS:C1709639|MA:0001753|NCIT:C49270|EMAPA:30655 NCITA term may be sex-neutral uberon owl:Class HP:0100883 biolink:NamedThing Chorangioma Hamartoma-like growth in the placenta consisting of blood vessels. tmpxe7fu0cj_hp_relaxed.owl Placental hamartoma SNOMEDCT_US:2099007|MSH:D006391|SNOMEDCT_US:699948001|UMLS:C0677608|SNOMEDCT_US:237268002 Chorioangiomas (also known as placental hemangiomas) are benign hamartomatous growth of the placenta comprising vascular tissue. The classification is controversial due to its pathologic features and clinical implications. Some authors call placental hemangiomas as true nontrophoblastic neoplastic tissues. As this abnormal vascular growth seems like the native placental tissue and it does not metastasize, some authors call it just as placental hamartoma. The general incidence is approximately 0.6 percent. Giant chorioangiomas with a diameter over 5 cm are very rare, with an incidence of one in 16-50 thousand pregnancies. Small tumors do not cause any adverse outcomes and they are asymptomatic. In contrast, tumors larger than 5 cm may lead to several complications. doelkens 2011-12-01T02:50:56Z human_phenotype owl:Class HP:0100422 biolink:NamedThing Partial duplication of the proximal phalanx of the 3rd toe Partial duplication of proximal phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the innermost bone of 3rd toe|Partial duplication of the proximal phalanx of the third toe UMLS:C4020977 human_phenotype owl:Class HP:0100404 biolink:NamedThing Duplication of the proximal phalanx of the 3rd toe Partial or complete duplication of proximal phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Duplication of the innermost 3rd toe bone|Partial/complete duplication of the proximal phalanx of the 3rd toe|Duplication of the proximal phalanx of the third toe UMLS:C4020993 human_phenotype owl:Class GO:0051173 biolink:NamedThing positive regulation of nitrogen compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. tmpxe7fu0cj_hp_relaxed.owl positive regulation of nitrogen metabolic process|upregulation of nitrogen metabolic process|up regulation of nitrogen metabolic process|positive regulation of nitrogen metabolism|up-regulation of nitrogen metabolic process|stimulation of nitrogen metabolic process|activation of nitrogen metabolic process biological_process owl:Class HP:0005943 biolink:NamedThing Respiratory arrest tmpxe7fu0cj_hp_relaxed.owl Breathing cessation SNOMEDCT_US:87317003|UMLS:C0162297 human_phenotype owl:Class CHEBI:32650 biolink:NamedThing L-asparaginate An optically active form of asparaginate having L-configuration. tmpxe7fu0cj_hp_relaxed.owl (2S)-2,4-diamino-4-oxobutanoate|L-asparagine anion|L-asparaginate -1 C4H7N2O3 InChI=1S/C4H8N2O3/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H2,6,7)(H,8,9)/p-1/t2-/m0/s1 DCXYFEDJOCDNAF-REOHCLBHSA-M 131.11006 131.04622 N[C@@H](CC(N)=O)C([O-])=O Beilstein:6115348|Reaxys:6115348|HMDB:HMDB0000168|Gmelin:327371 chebi_ontology owl:Class CHEBI:22744 biolink:NamedThing benzyl group tmpxe7fu0cj_hp_relaxed.owl phenylalanine side-chain|Bn|phenylmethyl|C6H5-CH2-|benzyl 0 C7H7 91.13048 91.05478 C1=C(C=CC=C1)C* chebi_ontology owl:Class CHEBI:33452 biolink:NamedThing benzylic group Arylmethyl groups and derivatives formed by substitution: ArCR2-. tmpxe7fu0cj_hp_relaxed.owl benzylic groups|groupe benzylique|benzylic group chebi_ontology owl:Class HP:0025110 biolink:NamedThing Placoid macular lesion Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula. tmpxe7fu0cj_hp_relaxed.owl 2016-11-01 01:20:32+00:00 HPO:probinson owl:Class CL:0000498 biolink:NamedThing inhibitory interneuron An interneuron (also called relay neuron, association neuron or local circuit neuron) is a multipolar neuron which connects afferent neurons and efferent neurons in neural pathways. Like motor neurons, interneuron cell bodies are always located in the central nervous system (CNS). tmpxe7fu0cj_hp_relaxed.owl FMA:84776 cell owl:Class UBERON:0011899 biolink:NamedThing epimysium Epimysium is a layer of connective tissue which ensheaths the entire muscle. It is composed of dense irregular connective tissue. It is continuous with fascia and other connective tissue wrappings of muscle including the endomysium, and perimysium. It is also continuous with tendons where it becomes thicker and collagenous. tmpxe7fu0cj_hp_relaxed.owl fascia of muscle organ|epimysia NCIT:C32527|UMLS:C0504096|FMA:9726|Wikipedia:Epimysium uberon owl:Class The Epimysium also protects muscles from friction against other muscles and bones UBERON:0011822 biolink:NamedThing dense irregular connective tissue Irregular connective tissue is an irregular connective tissue, the intercellular matrix of which contains a dense irregular network of collagen and elastic fiber bundles. Examples: connective tissue of peritoneum, connective tissue of fibrous pericardium. tmpxe7fu0cj_hp_relaxed.owl irregular dense connective tissue|typus irregularis (textus connectivus collagenosus compactus) Wikipedia:Dense_irregular_connective_tissue|NCIT:C32882|UMLS:C0738366|FMA:20109 uberon owl:Class Tissue characterized by a thick, random arrangement of collagen and elastin fibers with very few cells. The majority of the cells are fibroblasts, but mast cells and macrophages may also be seen. It is found in the dermis, periosteum, perichondrium, capsules of organs and sheaths of nerves and muscles[NCIT] GO:0031115 biolink:NamedThing negative regulation of microtubule polymerization Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule polymerization. tmpxe7fu0cj_hp_relaxed.owl down-regulation of microtubule polymerization|down regulation of microtubule polymerization|downregulation of microtubule polymerization|inhibition of microtubule polymerization biological_process owl:Class GO:1902904 biolink:NamedThing negative regulation of supramolecular fiber organization Any process that stops, prevents or reduces the frequency, rate or extent of fibril organization. tmpxe7fu0cj_hp_relaxed.owl inhibition of fibril organization|negative regulation of fibril organisation|down regulation of fibril organisation|downregulation of fibril organisation|inhibition of fibril organisation|downregulation of fibril organization|down-regulation of fibril organization|down-regulation of fibril organisation|down regulation of fibril organization HSPA8, human, P11142 in PMID:23921388 inferred from direct assay to negatively regulate fibrillation of alpha-Syn in vitro rl 2014-04-15T16:46:42Z biological_process owl:Class HP:0011730 biolink:NamedThing Abnormal central sensory function An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord. tmpxe7fu0cj_hp_relaxed.owl Abnormality of central sensory function UMLS:C4023215 peter 2012-04-19T07:44:18Z owl:Class HP:0010000 biolink:NamedThing Complete duplication of the proximal phalanges of the hand A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the innermost bones of the hand UMLS:C4024119 doelkens 2009-05-26T03:55:02Z human_phenotype owl:Class HP:0010006 biolink:NamedThing Duplication of the proximal phalanx of hand This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the proximal phalanges of the hand|Duplication of the innermost bones of hand UMLS:C4021347 doelkens 2009-05-26T05:29:46Z human_phenotype owl:Class HP:0100061 biolink:NamedThing Ivory epiphyses of the 3rd toe Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the 3rd toe bone UMLS:C4022360 doelkens 2010-06-24T09:58:55Z human_phenotype owl:Class UBERON:0003388 biolink:NamedThing mesothelium of pericardial cavity A mesothelium that is part of a pericardium [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pericardial cavity mesothelium|meso-epithelium of cavity of pericardial sac|mesothelium of cavity of pericardial sac|cavity of pericardial sac meso-epithelium|pericardial cavity meso-epithelium|meso-epithelium of pericardial cavity|cavity of pericardial sac mesothelium RETIRED_EHDAA2:0001436 uberon owl:Class UBERON:0001136 biolink:NamedThing mesothelium Simple squamous epithelium of mesodermal origin which lines serous membranes. Examples: mesothelium of pleura, mesothelium of peritoneum[FMA]. Wikipedia: The mesothelium is a membrane that forms the lining of several body cavities: the pleura (thoracal cavity), peritoneum (abdominal cavity including the mesentery) and pericardium (heart sac). Mesothelial tissue also surrounds the male internal reproductive organs (the tunica vaginalis testis) and covers the internal reproductive organs of women (the tunica serosa uteri). tmpxe7fu0cj_hp_relaxed.owl UMLS:C0086610|SCTID:361918002|EHDAA:6073|Wikipedia:Mesothelium|CALOHA:TS-1183|AEO:0000111|EHDAA2_RETIRED:0003111|EHDAA:640|NCIT:C33105|EHDAA:2331|EHDAA:646|EHDAA:2349|FMA:14074|EMAPA:32856|BTO:0002422|MA:0000565|EHDAA:295 http://upload.wikimedia.org/wikipedia/commons/2/25/Mesothelium_peritoneal_wash_high_mag.jpg uberon owl:Class GO:0016791 biolink:NamedThing phosphatase activity Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpxe7fu0cj_hp_relaxed.owl PNPPase activity|p-nitrophenylphosphate phosphohydrolase activity|K-pNPPase activity|phosphatase|NPPase activity|phosphoric monoester hydrolase activity|4-nitrophenylphosphatase activity|nitrophenyl phosphatase activity|ecto-p-nitrophenyl phosphatase activity|4-nitrophenylphosphate phosphohydrolase activity|para-nitrophenyl phosphatase activity|p-nitrophenylphosphatase activity Reactome:R-HSA-9636457|Reactome:R-HSA-4419986|MetaCyc:4-NITROPHENYLPHOSPHATASE-RXN|EC:3.1.3.- GO:0003869|GO:0016302 molecular_function owl:Class GO:0042578 biolink:NamedThing phosphoric ester hydrolase activity Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class GO:0060089 biolink:NamedThing molecular transducer activity A compound molecular function in which an effector function is controlled by one or more regulatory components. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class UBERON:0003691 biolink:NamedThing epidural space The outermost part of the spinal canal. It is the space within the canal (formed by the surrounding vertebrae) lying outside the dura mater. tmpxe7fu0cj_hp_relaxed.owl spatium extradurale|spatium epidurale|cavum epidurale|cavum extradurale|extradural space|epidural cavity FMA:71228|MESH:D004824|GAID:243 uberon owl:Class extradural|epidural In humans the epidural space contains lymphatics, spinal nerve roots, loose fatty tissue, small arteries, and a network of large, thin-walled blood vessels called the epidural venous plexus in the FMA this is treated as a space of the head, but this ontology covers non-humans, where the space may continue into the tail HP:0002068 biolink:NamedThing Neuromuscular dysphagia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025729 human_phenotype owl:Class HP:0100348 biolink:NamedThing Contracture of the proximal interphalangeal joint of the 2nd toe The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl Camptodactyly of the second toe|Camptodactyly of the 2nd toe UMLS:C4021019 human_phenotype owl:Class HP:0031257 biolink:NamedThing Arteriovenous malformation of the maxilla An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 15:53:52+00:00 This abnormality may be accompanied by gingival swelling adjacent to the affected maxilla as well as by loosening of nearby teeth. Radiographic examination mayreveal a lytic lesion of the maxilla. peter owl:Class HP:0000326 biolink:NamedThing Abnormality of the maxilla An abnormality of the Maxilla (upper jaw bone). tmpxe7fu0cj_hp_relaxed.owl Malformation of the upper jaw bones|Malformation of the maxilla|Anomaly of the maxilla|Abnormality of the upper jaw bone|Deformity of the upper jaw bones|Deformity of the maxilla|Abnormality of the upper jaw bones UMLS:C4025862 human_phenotype owl:Class CHEBI:17258 biolink:NamedThing 7H-purine The 7H-tautomer of purine. tmpxe7fu0cj_hp_relaxed.owl Purine base|7H-purine|Purine 0 C5H4N4 InChI=1S/C5H4N4/c1-4-5(8-2-6-1)9-3-7-4/h1-3H,(H,6,7,8,9) KDCGOANMDULRCW-UHFFFAOYSA-N 120.11222 120.04360 c1ncc2[nH]cnc2n1 Reaxys:3200|Beilstein:3200|HMDB:HMDB0001366|KEGG:C15587|Gmelin:601779 CHEBI:14968|CHEBI:8639 chebi_ontology owl:Class HP:0025421 biolink:NamedThing Pneumomediastinum The presence of free air in the mediastinum. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 12:21:33+00:00 Spontaneous pneumomediastinum (SPM) is defined as the non-traumatic presence of free air in the mediastinum in a patient with no known underlying disease. The most common etiology for SPM is alveolar rupture, most commonly due to an asthma exacerbation, but also seen with barotrauma, intrathoracic pressure increase, the valsalva maneuver, and withdrawal symptoms of illicit drugs. Other causes of pneumomediastinum include coughing, mechanical ventilation, pneumonitis, emphysema, lung fibrosis, acute respiratory distress syndrome, heroin, marijuana, cocaine use, gas producing infections in the head and neck, tracheobronchial or esophageal rupture and facial fractures that lead to disruption of maxillary sinus walls. HPO:probinson owl:Class HP:0045026 biolink:NamedThing Abnormality of the mediastinum tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022395 HPO:skoehler HP:0100722 owl:Class HP:0002666 biolink:NamedThing Pheochromocytoma Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. tmpxe7fu0cj_hp_relaxed.owl Chromaffin tumors|Chromaffin tumours UMLS:C0031511|SNOMEDCT_US:85583005|SNOMEDCT_US:399343007|SNOMEDCT_US:302835009|MSH:D010673|NCIT:C3326 human_phenotype owl:Class HP:0002025 biolink:NamedThing Anal stenosis Abnormal narrowing of the anal opening. tmpxe7fu0cj_hp_relaxed.owl Narrowing of anal opening SNOMEDCT_US:69914001|MEDDRA:10002176|UMLS:C0262374|SNOMEDCT_US:250037002 human_phenotype owl:Class CHEBI:61409 biolink:NamedThing dihydroxyphenylacetic acid A dihydroxy monocarboxylic acid consisting of phenylacetic acid having two phenolic hydroxy substituents. tmpxe7fu0cj_hp_relaxed.owl dihydroxyphenylacetic acids CHEBI:23787 chebi_ontology owl:Class CHEBI:35972 biolink:NamedThing dihydroxy monocarboxylic acid Any hydroxy monocarboxylic acid carrying at least two hydroxy groups. tmpxe7fu0cj_hp_relaxed.owl dihydroxy monocarboxylic acids chebi_ontology owl:Class CL:0000058 biolink:NamedThing chondroblast Skeletogenic cell that is typically non-terminally differentiated, secretes an avascular, GAG rich matrix; is not buried in cartilage tissue matrix, retains the ability to divide, located adjacent to cartilage tissue (including within the perichondrium), and develops from prechondroblast (and thus prechondrogenic) cell. tmpxe7fu0cj_hp_relaxed.owl chrondoplast FMA:66783|BTO:0003607 cell owl:Class GO:0008066 biolink:NamedThing glutamate receptor activity Combining with glutamate and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class HP:0100069 biolink:NamedThing Enlarged epiphyses of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the 4th toe bone UMLS:C4022352 doelkens 2010-06-24T09:59:30Z human_phenotype owl:Class HP:0000935 biolink:NamedThing Thickened cortex of long bones Abnormal thickening of the cortex of long bones. tmpxe7fu0cj_hp_relaxed.owl Broad cortex of long bones|Cortical thickening of the long bones|Thickened cortices of long bones UMLS:C1840418 human_phenotype owl:Class HP:0009017 biolink:NamedThing Loss of gluteal subcutaneous adipose tissue Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region. tmpxe7fu0cj_hp_relaxed.owl Loss of fat tissue below the skin in gluts UMLS:C4024606 human_phenotype owl:Class HP:0008887 biolink:NamedThing Adipose tissue loss A loss of adipose tissue. tmpxe7fu0cj_hp_relaxed.owl Loss of fat tissue UMLS:C4024615 HP:0008938 human_phenotype owl:Class GO:0005518 biolink:NamedThing collagen binding Binding to collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class HP:0034119 biolink:NamedThing Anti-GD1a IgG antibody positivity The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:27:18+00:00 peter owl:Class HP:0011043 biolink:NamedThing Abnormality of circulating adrenocorticotropin level An abnormal concentration of corticotropin in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormality of circulating ACTH level|Abnormality of circulating adrenocorticotropic hormone level|Abnormality of circulating corticotropin level|Abnormality of circulating adrenocorticotropin level UMLS:C4023574 Adrenocorticotropic hormone (ACTH), also known as corticotropin, is a polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. . It is a component of the hypothalamic-pituitary-adrenal axis and stimulates increased production and release of corticosteroids and cortisol from the adrenal cortex. peter 2011-03-10T07:46:59Z human_phenotype owl:Class GO:0097026 biolink:NamedThing dendritic cell dendrite assembly Formation of dendrites, branched cellular projections (or cytoplasmic extension) that are extended from the surface of a dendritic immune cell, and which enable the cell to sample luminal pathogens and increase the surface area for antigen presentation to T cells. tmpxe7fu0cj_hp_relaxed.owl dendritic extension Note that dendrites of dendritic cells should not be confused with neuronal cell dendrites, which process electrical signals. pr 2011-03-31T04:52:53Z biological_process owl:Class CL:0000056 biolink:NamedThing myoblast A cell that is commited to differentiating into a muscle cell. Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes. Myoblasts also occur as transient populations of cells in muscles undergoing repair. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-0650|BTO:0000222|FBbt:00005083|FMA:70335|VHOG:0001529 cell owl:Class GO:0031342 biolink:NamedThing negative regulation of cell killing Any process that stops, prevents, or reduces the frequency, rate or extent of cell killing. tmpxe7fu0cj_hp_relaxed.owl downregulation of cell killing|down-regulation of cell killing|down regulation of cell killing|inhibition of cell killing biological_process owl:Class GO:0007586 biolink:NamedThing digestion The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Digestion biological_process owl:Class GO:0046364 biolink:NamedThing monosaccharide biosynthetic process The chemical reactions and pathways resulting in the formation of monosaccharides, polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. tmpxe7fu0cj_hp_relaxed.owl monosaccharide anabolism|monosaccharide synthesis|monosaccharide formation|monosaccharide biosynthesis biological_process owl:Class GO:0016051 biolink:NamedThing carbohydrate biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. tmpxe7fu0cj_hp_relaxed.owl carbohydrate anabolism|carbohydrate biosynthesis|carbohydrate synthesis|anabolic carbohydrate metabolic process|anabolic carbohydrate metabolism|carbohydrate formation GO:0006093 biological_process owl:Class HP:0011036 biolink:NamedThing Abnormality of renal excretion An altered ability of the kidneys to void urine and/or specific substances. tmpxe7fu0cj_hp_relaxed.owl MP:0005555|UMLS:C4023579 peter 2011-03-06T12:28:55Z human_phenotype owl:Class UBERON:0035549 biolink:NamedThing vasculature of integument The part of the circulatory system that lies within the subcutaneous tissue layers close to the surface of the skin. tmpxe7fu0cj_hp_relaxed.owl vasculature of skin|superficial part of circulatory system|subcutaneous vasculature|dermis vasculature|superficial vasculature|hypodermis vasculature|skin vasculature FMA:225275 uberon owl:Class GO:0014032 biolink:NamedThing neural crest cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0014031 biolink:NamedThing mesenchymal cell development The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0000355 biolink:NamedThing pharyngeal mucosa A mucosa that is part of a pharynx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl organ mucosa of pharynx|mucous membrane of pharynx|pharynx mucosa of organ|pharynx organ mucosa|pharynx mucosa|tunica mucosa pharyngea|tunica mucosa pharyngis|mucosa of pharynx|pharynx mucous membrane|mucosa of organ of pharynx|mucous membrane of the pharynx MA:0003143|EMAPA:26957|BTO:0001047|SCTID:362121003|FMA:55031 UBERON:0003344 uberon owl:Class UBERON:0004327 biolink:NamedThing middle phalanx of pedal digit 5 A middle phalanx that is part of a pedal digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl middle phalanx of the 5th toe|middle phalanx of pedal digit V|intermediate phalanx of foot digit 5|foot digit 5 middle phalanx|middle phalanx of foot digit 5|intermediate phalanx of 5th toe|middle phalanx of little toe|middle phalanx of 5th toe|5th toe middle phalanx|foot digit 5 intermediate phalanx|5th toe intermediate phalanx FMA:230984 uberon owl:Class UBERON:0003863 biolink:NamedThing pedal digit 5 phalanx A phalanx that is part of a foot digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl phalanx of fifth digit of foot|pedal digit V phalanx|digit long bone of foot digit 5|foot digit 5 phalanx|little toe phalanx|phalanx of foot digit 5|phalanx of fifth toe|foot digit 5 digit long bone|foot digit 5 long bone of digit|long bone of digit of foot digit 5|hind limb digit 5 phalanx|phalanx of little toe FMA:32902|EMAPA:19132|UMLS:C1708088|NCIT:C52782|MA:0001385 uberon owl:Class HP:0031886 biolink:NamedThing Abnormal LDL cholesterol concentration Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal LDLc concentration|Abnormal LDL-C level|Abnormal LDL-C concentration 2018-05-13 14:27:13+00:00 peter owl:Class HP:0032451 biolink:NamedThing Oral melanotic macule Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented. tmpxe7fu0cj_hp_relaxed.owl Melanotic macule of oral mucosa 2019-03-08 11:02:36+00:00 Melanotic macules very rarely, if ever, present larger than one centimeter in diameter. Although these are innocuous lesions, a biopsy is usually warranted for diagnosis since mucosal melanoma can mimic the appearance of a melanotic macule. Melanotic macules are caused by functional hyperactivity of the regional melanocytes ie there is increased melanin production. Histologically, this is evidenced by abundant melanin pigmentation within the basal epithelial cell layer with melanin incontinence in the superficial portions of the submucosa. Importantly, there is no increase in melanocyte number. If there is evidence of melanocytic hyperplasia, it should be diagnosed as such and the lesion would likely warrant complete surgical removal. It is possible that melanocytic hyperplasia may potentially herald the development of malignant melanoma. peter owl:Class HP:0100669 biolink:NamedThing Abnormal pigmentation of the oral mucosa An abnormality of the pigmentation of the mucosa of the mouth. tmpxe7fu0cj_hp_relaxed.owl Abnormal colour of the oral mucosa|Abnormal pigmentation of oral cavity|Abnormal pigmentation of oral mucous membrane|Abnormal color of the oral mucosa|Abnormal pigmentation of the oral mucosa/gingivae UMLS:C4020959 doelkens 2010-12-30T01:25:45Z human_phenotype owl:Class HP:0100731 biolink:NamedThing Transverse facial cleft A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear. tmpxe7fu0cj_hp_relaxed.owl Lateral facial cleft UMLS:C4020954 Usually, these clefts are unilateral and do not extend beyond the anterior border of the masseter. Transverse clefts are thought to develop either due to failure of the maxillary and mandibular processes to fuse or a disruption in the processes after fusing. doelkens 2011-06-06T05:03:42Z human_phenotype owl:Class HP:0002055 biolink:NamedThing Curved linear dimple below the lower lip tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844572 human_phenotype owl:Class HP:0005103 biolink:NamedThing Calcification of the auricular cartilage Ossification affecting the external ear cartilage. tmpxe7fu0cj_hp_relaxed.owl Cartilaginous ossification of pinnae|Ear cartilage calcification|Petrified ear|Ossification of pinnae UMLS:C1408806 peter 2008-03-25T05:09:00Z HP:0008549 human_phenotype owl:Class GO:0042182 biolink:NamedThing ketone catabolic process The chemical reactions and pathways resulting in the breakdown of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. tmpxe7fu0cj_hp_relaxed.owl ketone catabolism|ketone breakdown|ketone degradation biological_process owl:Class HP:0003652 biolink:NamedThing Recurrent myoglobinuria Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue. tmpxe7fu0cj_hp_relaxed.owl Myoglobinuria, recurrent|Myoglobinuria, episodic MSH:C564018|UMLS:C1838877 HP:0008313 owl:Class HP:0002913 biolink:NamedThing Myoglobinuria Presence of myoglobin in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0027080|SNOMEDCT_US:48165008|MSH:D009212 Myoglobinuria is usually associated with rhabdomyolysis or muscle destruction. owl:Class HP:0020063 biolink:NamedThing Increased hemoglobin concentration An abnormal elevation above normal hemoglobin concentration in the circulation. tmpxe7fu0cj_hp_relaxed.owl Increased Hb concentration|Increased haemoglobin concentration 2018-09-28 23:53:24+00:00 robinp owl:Class HP:0020061 biolink:NamedThing Abnormal hemoglobin concentration Any deviation from the normal concentration of hemoglobin in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal Hb concentration|Abnormal haemoglobin concentration 2018-09-28 23:52:35+00:00 robinp owl:Class GO:0045916 biolink:NamedThing negative regulation of complement activation Any process that stops, prevents, or reduces the frequency, rate or extent of complement activation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of complement cascade|down-regulation of complement activation|down regulation of complement activation|downregulation of complement activation|inhibition of complement activation biological_process owl:Class HP:0025461 biolink:NamedThing Abnormal cell morphology Any anomaly of cell structure. tmpxe7fu0cj_hp_relaxed.owl 2017-05-07 11:14:54+00:00 HPO:probinson owl:Class GO:1905215 biolink:NamedThing negative regulation of RNA binding Any process that stops, prevents or reduces the frequency, rate or extent of RNA binding. tmpxe7fu0cj_hp_relaxed.owl down regulation of RNA binding|downregulation of RNA binding|down-regulation of RNA binding|inhibition of RNA binding bf 2016-06-06T10:21:04Z biological_process owl:Class HP:0001591 biolink:NamedThing Bell-shaped thorax The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. tmpxe7fu0cj_hp_relaxed.owl Narrow, bell-shaped thorax|Constricted, bell-shaped thorax|Bell-shaped chest UMLS:C1865186 A bell-shaped thorax is a non-specific finding. In newborns, bell-spahed thorax can indicate a history of intrauterine neuromuscular abnormalities. HP:0006664|HP:0006626 owl:Class HP:0008048 biolink:NamedThing Abnormality of the line of Schwalbe An abnormality of the line of Schwalbe. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021856 Schwalbe's line is the anatomical line found on the posterior surface of the cornea, delineating the outer limit of the corneal endothelium layer. peter 2008-04-02T12:12:00Z human_phenotype owl:Class PATO:0000570 biolink:NamedThing increased height A height which is relatively high. tmpxe7fu0cj_hp_relaxed.owl tall quality owl:Class PATO:0000119 biolink:NamedThing height A 1-D extent quality inhering in a bearer by virtue of the bearer's vertical dimension of extension. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0001855 biolink:NamedThing horizontal A positional quality inhering in a bearer by virtue of the bearer's being in the plane of the horizon. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0001784 biolink:NamedThing bifurcated A branched quality inhering in a bearer by virtue of the bearer's being divided into two branches. tmpxe7fu0cj_hp_relaxed.owl forked|bifid PATO:0001572 quality owl:Class PATO:0000402 biolink:NamedThing branched A branchiness quality inhering in a bearer by virtue of the bearer's having branches. tmpxe7fu0cj_hp_relaxed.owl ramiform|ramified quality owl:Class HP:0000623 biolink:NamedThing Supranuclear ophthalmoplegia A vertical gaze palsy with inability to direct the gaze of the eyes downwards. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1408507 human_phenotype owl:Class HP:0040232 biolink:NamedThing Delayed onset bleeding Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280712 owl:Class PATO:0002403 biolink:NamedThing generalized Affecting all regions without specificity of distribution. tmpxe7fu0cj_hp_relaxed.owl generalised 2012-12-17T10:41:37Z quality owl:Class PATO:0000060 biolink:NamedThing spatial pattern A spatial quality inhering in a bearer by virtue of the bearer's exhibiting repetition of placement of its parts. tmpxe7fu0cj_hp_relaxed.owl pattern|distribution PATO:0001565|PATO:0000132 quality owl:Class GO:0071310 biolink:NamedThing cellular response to organic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. tmpxe7fu0cj_hp_relaxed.owl mah 2009-12-10T04:46:04Z biological_process owl:Class HP:0032675 biolink:NamedThing Acute cutaneous wound A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin. tmpxe7fu0cj_hp_relaxed.owl Wound healing accors in multiple overlapping stages, with re=-eipthelialization normally beginning on day one or two. In most clinical settings, closure of acute and chronic wounds is considered the wound healing end point, but wounds can continue to undergo remodeling or tissue maturation for several months or even years. peter owl:Class HP:0032674 biolink:NamedThing Cutaneous wound A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time. tmpxe7fu0cj_hp_relaxed.owl Skin wound peter owl:Class HP:0025427 biolink:NamedThing Abnormal bronchus physiology Any anomaly of the function of the bronchi. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 12:51:32+00:00 HPO:probinson owl:Class UBERON:0009129 biolink:NamedThing right atrium endocardium Endocardium that is part of the right atrium. tmpxe7fu0cj_hp_relaxed.owl right atrium endocardial tissue|right atrial endocardium|endocardium of right atrium FMA:7281|VHOG:0001228|SCTID:3194006|EHDAA2:0000274|NCIT:C102339 uberon owl:Class UBERON:0002165 biolink:NamedThing endocardium The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. tmpxe7fu0cj_hp_relaxed.owl heart endocardium|endocardial tissue|heart endocardial tissue|endocardial lining SCTID:362013006|GAID:550|CALOHA:TS-2075|EFO:0000821|MAT:0000455|UMLS:C0014124|MA:0000076|MESH:D004699|XAO:0000066|AAO:0010408|EV:0100021|NCIT:C13004|EMAPA:17868|Wikipedia:Endocardium|OpenCyc:Mx4rsWA75K1cEduAAADggVaqvw|BTO:0000387|EHDAA2:0004153|ZFA:0001320|FMA:7280|galen:Endocardium|TAO:0001320|VHOG:0000084|EMAPA:32686 fixed in GO to reflect FMA. See email to David/Varsha June 18 2010 http://upload.wikimedia.org/wikipedia/commons/6/6c/Gray493.png UBERON:0006225 uberon owl:Class Part of the heart comprised of thin serous membrane, composed of endothelial tissue, that lines the interior of the heart.[AAO]|Tunica intima which has as its parts the endothelium of endocardium and the fibroelastic connective tissue that surrounds the cavity of a cardiac chamber.|Layer that lines the lumen of the heart.[TAO] HP:0000768 biolink:NamedThing Pectus carinatum A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. tmpxe7fu0cj_hp_relaxed.owl Pigeon chest UMLS:C0158731|SNOMEDCT_US:205101001|MSH:D066166 HP:0006639 human_phenotype owl:Class GO:1905952 biolink:NamedThing regulation of lipid localization Any process that modulates the frequency, rate or extent of lipid localization. tmpxe7fu0cj_hp_relaxed.owl regulation of lipid localisation rz 2017-02-21T12:12:22Z biological_process owl:Class CHEBI:17522 biolink:NamedThing alditol A carbohydrate that is an acyclic polyol having the general formula HOCH2[CH(OH)]nCH2OH (formally derivable from an aldose by reduction of the carbonyl group). tmpxe7fu0cj_hp_relaxed.owl alditols|alditol|Sugar alcohol|Alditol|Glycitol 0 (CH2O)nC2H6O2 Wikipedia:Glycerin|KEGG:C00717 CHEBI:2556|CHEBI:22298|CHEBI:13754 chebi_ontology owl:Class HP:0011870 biolink:NamedThing Impaired arachidonic acid-induced platelet aggregation Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023155 peter 2012-05-30T05:37:07Z human_phenotype owl:Class HP:0012480 biolink:NamedThing Abnormal cerebral vein morphology An anomaly of cerebral veins. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cerebral veins UMLS:C4022888 peter 2013-11-28T08:01:32Z owl:Class UBERON:0011282 biolink:NamedThing nail of pedal digit 5 A nail that is part of a pedal digit 5. tmpxe7fu0cj_hp_relaxed.owl nail of little toe|nail of fifth toe|nail plate of little toe|nail of pedal digit V|little toe nail|claw of digit 5 of hind-paw FMA:54356|EMAPA:18743 uberon owl:Class GO:0042996 biolink:NamedThing regulation of Golgi to plasma membrane protein transport Any process that modulates the frequency, rate or extent of the transport of proteins from the Golgi to the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0002058 biolink:NamedThing main ciliary ganglion A parasympathetic ganglion located in the posterior orbit that contains preganglionic nerves and postganglionic neurons of the oculomotor nerve, connects to the Edinger-Westphal nucleus via the oculomotor nerve and the eye muscles via the short ciliary nerve. tmpxe7fu0cj_hp_relaxed.owl ciliary ganglion|ganglion ciliare MA:0001136|BAMS:GcIII|FMA:6964|VHOG:0000805|EHDAA2:0000251|EMAPA:18222|EFO:0002559|NLXANAT:100304|EHDAA:5623 the main ciliary ganglion (typically just called the ciliary ganglion) is differentiated from the accessory by connection to the oculomotor nerve. http://upload.wikimedia.org/wikipedia/commons/3/30/Augennerven.jpg uberon owl:Class The ciliary ganglion is a parasympathetic ganglion located in the posterior orbit. It measures 1-2 millimeters in diameter and contains approximately 2,500 neurons. Preganglionic axons from the Edinger-Westphal nucleus form synapses with these cells. The postganglionic axons run in the short ciliary nerves and innervate two eye muscles: the sphincter pupillae constricts the pupil, known as Miosis. The opposite, Mydriasis, is the dilation of the pupil. the ciliaris muscle contracts, releasing tension on the Zonular Fibers, making the lens more convex, also known as accommodation. Both of these muscles are involuntary - they are controlled by the autonomic nervous system. It is one of four parasympathetic ganglia of the head and neck.. [WP,unvetted][Wikipedia:Ciliary_ganglion]. Little is known about the development of parasympathetic neurons apart from the ciliary ganglion in chicks. Although there are considerable gaps in our knowledge, some of the mechanisms controlling sympathetic and enteric neuron development appear to be conserved between mammals, avians and zebrafish.[uncertain][VHOG] GO:0009314 biolink:NamedThing response to radiation Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation. tmpxe7fu0cj_hp_relaxed.owl response to electromagnetic radiation stimulus|response to radiation stimulus Note that 'radiation' refers to electromagnetic radiation of any wavelength. biological_process owl:Class HP:0033107 biolink:NamedThing Abnormal circulating proteinogenic amino acid concentration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. tmpxe7fu0cj_hp_relaxed.owl 2020-08-29 11:59:15+00:00 peter owl:Class GO:0061844 biolink:NamedThing antimicrobial humoral immune response mediated by antimicrobial peptide An immune response against microbes mediated by anti-microbial peptides in body fluid. tmpxe7fu0cj_hp_relaxed.owl antimicrobial peptide-mediated antimicrobial humoral response|peptide-mediated antimicrobial humoral response biological_process owl:Class UBERON:0024045 biolink:NamedThing white matter of the cerebellar cortex White matter that lies deep to the granular cell layer of the cerebellar cortex. It contains afferents to the cerebellar cortex and axons that run between the cerebellar cortex and the deep cerebellar nuclei. tmpxe7fu0cj_hp_relaxed.owl white matter of the cerebellar cortex NLXANAT:20081249 uberon owl:Class HP:0031586 biolink:NamedThing Tessier number 14 facial cleft This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan. tmpxe7fu0cj_hp_relaxed.owl Tessier facial cleft number 14 2017-10-14 12:56:19+00:00 peter owl:Class GO:0048565 biolink:NamedThing digestive tract development The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed. tmpxe7fu0cj_hp_relaxed.owl intestine development|intestinal development|gut development biological_process owl:Class HP:0009769 biolink:NamedThing Bullet-shaped phalanges of the hand The presence of short and wide phalanges which taper distally ("bullet shaped"). tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped hand bones|Conical bullet-shaped distal ends of phalanges|Bullet-shaped phalanges of the hands UMLS:C1854952 doelkens 2009-02-02T11:38:04Z HP:0006139|HP:0004270 human_phenotype owl:Class HP:0025244 biolink:NamedThing Subretinal pigment epithelium hemorrhage An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane. tmpxe7fu0cj_hp_relaxed.owl Subretinal pigment epithelium haemorrhage 2016-12-17 01:39:54+00:00 HPO:probinson owl:Class GO:0048596 biolink:NamedThing embryonic camera-type eye morphogenesis The process in which the anatomical structures of the eye are generated and organized during embryonic development. tmpxe7fu0cj_hp_relaxed.owl embryonic eye morphogenesis biological_process owl:Class GO:0048048 biolink:NamedThing embryonic eye morphogenesis The process occurring in the embryo by which the anatomical structures of the post-embryonic eye are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0013192 biolink:NamedThing ovarian medulla Highly vascular stroma found in the center of the ovary that forms from embryonic mesenchyme and contains blood vessels, lymphatic vessels, and nerves; this stroma forms the tissue of the hilum by which the ovarian ligament is attached, and through which the blood vessels enter; it does not contain any ovarian follicles. tmpxe7fu0cj_hp_relaxed.owl medulla of ovary|medulla ovarii (zona vasculosa)|zona vasculosa of Waldeyer NCIT:C33245|UMLS:C0227879|FMA:18616|EMAPA:37928 uberon owl:Class composed of loose connective tissue that contains blood vessels, lymph vessels and nerves HP:0010379 biolink:NamedThing Duplication of phalanx of the 4th toe Partial or complete duplication of phalanx of fourth toe. tmpxe7fu0cj_hp_relaxed.owl Duplication of phalanx of the fourth toe|Partial/complete duplication of the phalanges of the 4th toe|Duplication of 4th toe bone UMLS:C4021278 doelkens 2009-07-16T11:51:46Z human_phenotype owl:Class UBERON:0005891 biolink:NamedThing coelomic epithelium The epithelial lining of the surface of the coelom. tmpxe7fu0cj_hp_relaxed.owl germinal epithelium of Waldeyer|celomic epithelium XAO:0000329 uberon owl:Class EHDAA2:0004049 used to be called 'coelomic epithelium' but is now 'gonadal ridge mesothelium' UBERON:0006075 biolink:NamedThing sacral region of vertebral column Subdivision of vertebral column that corresponds to the sacral subdivision of the body, containing the sacral vertebrae or sacrum. tmpxe7fu0cj_hp_relaxed.owl sacral skeleton|sacrum|sacral vertebrae series|axial skeleton sacral region MA:0003157|NCIT:C33508|GAID:32|EHDAA:5059|EMAPA:17676|EHDAA2:0001772|AAO:0000724 uberon owl:Class Region of the vertebral column represented by one or two vertebrae.[AAO] In adult humans, the sacral skeleton is fused and called the sacrum HP:0100349 biolink:NamedThing Contracture of the proximal interphalangeal joint of the 3rd toe The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl Camptodactyly of the 3rd toe UMLS:C4021018 human_phenotype owl:Class CHEBI:17062 biolink:NamedThing primary aliphatic amine tmpxe7fu0cj_hp_relaxed.owl primary aliphatic amines|RCH2NH2 0 CH4NR 30.04920 30.03437 NC[*] KEGG:C00375 CHEBI:13431|CHEBI:8749 chebi_ontology owl:Class UBERON:0003356 biolink:NamedThing epithelium of nasal septum An epithelium that is part of a nasal septum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of nasal septum|nasal septum epithelial tissue|nasal septum epithelium EMAPA:18442 uberon owl:Class UBERON:0010194 biolink:NamedThing hepatic portal system A portal system that begins in capillaries in the wall of the digestive tract and and runs as the hepatic portal vein to the liver. tmpxe7fu0cj_hp_relaxed.owl portal system of liver|hepatic-portal system AAO:0010225 uberon owl:Class Part of the circulatory system which includes the ventral abdominal vein, pelvic veins, and portal vein and collects blood from the pelvic region, liver, gall bladder and stomach.[AAO] UBERON:0005806 biolink:NamedThing portal system In the circulatory system of animals, a portal venous system occurs when a capillary bed drains into another capillary bed through veins, without first going through the heart. Both capillary beds and the blood vessels that connect them are considered part of the portal venous system. They are relatively uncommon as the majority of capillary beds drain into veins which then drain into the heart, not into another capillary bed. Portal venous systems are considered venous because the blood vessels that join the two capillary beds are either veins or venules. Examples of such systems include the hepatic portal system and the hypophyseal portal system. Unqualified, 'portal venous system' often refers to the hepatic portal system. For this reason, 'portal vein' most commonly refers to the hepatic portal vein[WP]. tmpxe7fu0cj_hp_relaxed.owl portal venous system UMLS:C0226727|MESH:D011168|NCIT:C33344|FMA:45628 uberon owl:Class HP:0006417 biolink:NamedThing Broad femoral metaphyses tmpxe7fu0cj_hp_relaxed.owl Broad wide portion of thigh bone UMLS:C1864854 human_phenotype owl:Class HP:0006489 biolink:NamedThing Abnormality of the femoral metaphysis An anomaly of the femoral metaphysis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the wide portion of the femoral bone UMLS:C4025040|UMLS:C4280444 peter 2008-03-28T06:02:00Z human_phenotype owl:Class HP:0007295 biolink:NamedThing Chaotic rapid conjugate ocular movements tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024909 human_phenotype owl:Class HP:0012547 biolink:NamedThing Abnormal involuntary eye movements Anomalous movements of the eyes that occur without the subject wanting them to happen. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022855 peter 2013-12-21T10:37:42Z human_phenotype owl:Class GO:0072377 biolink:NamedThing blood coagulation, common pathway A protein activation cascade that contributes to blood coagulation and consists of events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the formation of cleaved fibrin into a stable multimeric, cross-linked complex. tmpxe7fu0cj_hp_relaxed.owl See also the biological process term 'blood coagulation, intrinsic pathway ; GO:0007597'. mah 2010-11-22T03:01:12Z biological_process owl:Class UBERON:0011118 biolink:NamedThing tarsometatarsal joint The tarsometatarsal articulations are arthrodial joints in the pes. tmpxe7fu0cj_hp_relaxed.owl tarsometatarsal articulation|Lisfranc joint|cuboideometatarsal|tarsometatarsal|articulationes tarsometatarsales|tarso-metatarsal join FMA:35216 http://upload.wikimedia.org/wikipedia/commons/d/dc/Gray358.png|http://upload.wikimedia.org/wikipedia/commons/8/8e/Gray355.png uberon owl:Class HP:0032822 biolink:NamedThing Neonatal electro-clinical autonomic seizure Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea. tmpxe7fu0cj_hp_relaxed.owl May involve respiration (apnea). Typically seen with other seizure manifestations. EEG confirmation is mandatory. peter owl:Class HP:0032812 biolink:NamedThing Neonatal electro-clinical non-motor seizure tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032716 biolink:NamedThing Focal impaired awareness non-motor seizure A focal non-motor seizure characterized by impaired awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal non-motor impaired awareness seizure peter owl:Class HP:0011651 biolink:NamedThing Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. tmpxe7fu0cj_hp_relaxed.owl DORV with doubly committed VSD and pulmonary stenosis UMLS:C3165091|SNOMEDCT_US:448516008 peter 2012-04-09T10:02:22Z human_phenotype owl:Class GO:0005634 biolink:NamedThing nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. tmpxe7fu0cj_hp_relaxed.owl horsetail nucleus|cell nucleus NIF_Subcellular:sao1702920020|Wikipedia:Cell_nucleus cellular_component owl:Class GO:0043231 biolink:NamedThing intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl intracellular membrane-enclosed organelle cellular_component owl:Class CHEBI:58402 biolink:NamedThing 5-oxo-L-prolinate Conjugate base of 5-oxo-L-proline. tmpxe7fu0cj_hp_relaxed.owl (2S)-5-oxopyrrolidine-2-carboxylate|5-oxo-L-prolate|5-oxo-L-proline -1 C5H6NO3 InChI=1S/C5H7NO3/c7-4-2-1-3(6-4)5(8)9/h3H,1-2H2,(H,6,7)(H,8,9)/p-1/t3-/m0/s1 ODHCTXKNWHHXJC-VKHMYHEASA-M 128.10600 128.03532 [O-]C(=O)[C@@H]1CCC(=O)N1 Beilstein:4783230|MetaCyc:5-OXOPROLINE|Gmelin:675391 chebi_ontology owl:Class HP:0008402 biolink:NamedThing Ridged fingernail Longitudinal, linear prominences in the fingernail plate. tmpxe7fu0cj_hp_relaxed.owl Longitudinally grooved fingernails|Ridged fingernail|Ridged fingernails UMLS:C1849392 human_phenotype owl:Class HP:0001231 biolink:NamedThing Abnormal fingernail morphology An abnormality of the fingernails. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the fingernails|Abnormal fingernails UMLS:C4021782 owl:Class HP:0010692 biolink:NamedThing 2-5 finger syndactyly Syndactyly with fusion of fingers two to five. tmpxe7fu0cj_hp_relaxed.owl Webbed 2nd-5th fingers|Webbed index, middle and pinky finger|Webbed index, middle and pinkie finger|Webbed index, middle and little finger UMLS:C4023736 doelkens 2010-03-05T06:41:50Z owl:Class HP:0012116 biolink:NamedThing Abnormal circulating albumin concentration Deviation from normal concentration of albumin in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal albumin level UMLS:C4023036 hecht 2012-09-16T05:14:53Z owl:Class HP:0100783 biolink:NamedThing Breast aplasia Failure to develop and congenital absence of the breast. tmpxe7fu0cj_hp_relaxed.owl Absent breast|Mammary gland aplasia|Congenital absence of breast SNOMEDCT_US:111324004|UMLS:C0266009 doelkens 2011-06-07T06:02:34Z human_phenotype owl:Class HP:0010311 biolink:NamedThing Aplasia/Hypoplasia of the breasts Absence or underdevelopment of the breasts. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped breasts|Absent/small breasts UMLS:C4023911 peter 2009-07-12T02:31:49Z human_phenotype owl:Class UBERON:0012074 biolink:NamedThing bony part of hard palate A subdivision of skeletal system that subdivision_of a hard palate. tmpxe7fu0cj_hp_relaxed.owl palatum osseum|hard palate skeleton|bony palate EMAPA:37444|FMA:59857 uberon owl:Class HP:0010735 biolink:NamedThing Polyostotic fibrous dysplasia Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome. tmpxe7fu0cj_hp_relaxed.owl MSH:D005359|UMLS:C0016065|SNOMEDCT_US:36517007 doelkens 2010-04-21T06:31:50Z human_phenotype owl:Class HP:0000993 biolink:NamedThing Molluscoid pseudotumors Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. tmpxe7fu0cj_hp_relaxed.owl Molluscoid pseudotumor UMLS:C1844597 human_phenotype owl:Class HP:0004732 biolink:NamedThing Impaired renal uric acid clearance A reduction in the ability of the kidneys to remove uric acid from the serum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969371 human_phenotype owl:Class GO:0048709 biolink:NamedThing oligodendrocyte differentiation The process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte. An oligodendrocyte is a type of glial cell involved in myelinating the axons of neurons in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0006191 biolink:NamedThing Deep palmar crease Excessively deep creases of the palm. tmpxe7fu0cj_hp_relaxed.owl Deep palm line|Deep palmar creases UMLS:C1857539 human_phenotype owl:Class HP:0010490 biolink:NamedThing Abnormality of the palmar creases An abnormality of the creases of the skin of palm of hand. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the palm lines SNOMEDCT_US:205557000|UMLS:C0221199 peter 2009-09-16T10:54:52Z human_phenotype owl:Class UBERON:0005296 biolink:NamedThing ovary sex cord Structures that develop from sex cords in the female. After further development they become the ovarian follicles. tmpxe7fu0cj_hp_relaxed.owl secondary cord|ovigerous cords|ovigerous cord|cortical sex cord|cortical cord|ovary primitive sex cord EMAPA:31058|UMLS:C1511527|NCIT:C34134|EHDAA:8130|EHDAA2:0001363|VHOG:0001339 TODO check secondary vs cortical vs ovary uberon owl:Class HP:0032344 biolink:NamedThing Upslanting toenail Upturned concavity of toenails. tmpxe7fu0cj_hp_relaxed.owl Upturned toenail|Ski-jump toenail 2019-02-21 13:14:43+00:00 See Figure 1 of PMID:25776851. peter owl:Class HP:0008388 biolink:NamedThing Abnormal toenail morphology An anomaly of the toenail. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the toenail|Abnormality of the toenails SNOMEDCT_US:700189007|UMLS:C3839753 owl:Class GO:0043011 biolink:NamedThing myeloid dendritic cell differentiation The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Dendritic_cell biological_process owl:Class GO:0045900 biolink:NamedThing negative regulation of translational elongation Any process that stops, prevents, or reduces the frequency, rate or extent of translational elongation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of translational elongation|down regulation of translational elongation|inhibition of translational elongation|downregulation of translational elongation biological_process owl:Class HP:0025137 biolink:NamedThing Decreased serum estriol A reduction below normal limits of estriol in the circulation. tmpxe7fu0cj_hp_relaxed.owl 2016-11-27 14:13:33+00:00 HPO:probinson owl:Class HP:0025135 biolink:NamedThing Abnormal serum estriol A deviation from normal concentration of estriol in the circulation. tmpxe7fu0cj_hp_relaxed.owl 2016-11-27 14:10:45+00:00 HPO:probinson owl:Class HP:0009713 biolink:NamedThing Spinal hemangioblastoma A hemangioblastoma of the spinal cord. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024223|NCIT:C3801 peter 2009-01-30T11:24:31Z human_phenotype owl:Class HP:0010302 biolink:NamedThing Spinal cord tumor A neoplasm affecting the spinal cord. tmpxe7fu0cj_hp_relaxed.owl Spinal tumours|Spinal tumors|Spinal cord tumour|Tumor of the spinal cord|Tumour of the spinal cord|Spinal tumour|Spinal tumor|Spinal cord tumor MSH:D013120|SNOMEDCT_US:126962006|NCIT:C3262|UMLS:C0037930 peter 2009-07-12T01:05:50Z HP:0009712 human_phenotype owl:Class UBERON:0004313 biolink:NamedThing distal phalanx of manual digit 4 A distal phalanx that is part of a hand digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl distal phalanx of ring finger|distal phalanx of manual digit IV|distal phalanx of 4th digit of hand|fourth distal phalanx of hand|fourth finger distal phalanx|distal phalanx of 4th finger|4th digit of hand distal phalanx|hand digit 4 distal phalanx|4th finger distal phalanx|distal phalanx of fourth digit of hand|distal phalanx of fourth finger FMA:23948 uberon owl:Class UBERON:0014486 biolink:NamedThing distal phalanx of digit 4 A distal phalanx that is part of a digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl distal phalanx of 4th digit|distal phalanx of fourth digit|distal phalanx of digit IV|lateral claw of ruminant hoof|fourth digit distal phalanx|digit 4 distal phalanx|lateral claw of artiodactyl|lateral ungual phalanx of artiodactyl|4th digit distal phalanx|digit IV P3|distal phalanx of ring digit|fourth distal phalanx uberon owl:Class HP:0030956 biolink:NamedThing Abnormality of cardiovascular system electrophysiology An anomaly of the electrical conduction physiology of the heart. tmpxe7fu0cj_hp_relaxed.owl 2017-03-17 17:47:04+00:00 robinp owl:Class HP:4000069 biolink:NamedThing Preoccupation with unusual objects tmpxe7fu0cj_hp_relaxed.owl robinp owl:Class HP:4000068 biolink:NamedThing Abnormal interest Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something. tmpxe7fu0cj_hp_relaxed.owl robinp owl:Class HP:0010047 biolink:NamedThing Short 5th metacarpal Short fifth metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Short fifth metacarpals|Short fifth metacarpal|Fifth metacarpal hypoplasia|Shortened 5th long bone of hand|Hypoplastic 5th metacarpal UMLS:C1861388 doelkens 2009-05-27T04:37:44Z HP:0005737|HP:0006222|HP:0006004 human_phenotype owl:Class HP:0010045 biolink:NamedThing Aplasia/Hypoplasia of the 5th metacarpal Aplasia or Hypoplasia affecting the 5th metacarpal. tmpxe7fu0cj_hp_relaxed.owl Absent/small 5th long bone of hand|Absent/underdeveloped 5th long bone of hand UMLS:C4024085 doelkens 2009-05-27T04:37:31Z human_phenotype owl:Class GO:0014013 biolink:NamedThing regulation of gliogenesis Any process that modulates the frequency, rate or extent of gliogenesis, the formation of mature glia. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0060253 biolink:NamedThing negative regulation of glial cell proliferation Any process that stops or decreases the rate or extent of glial cell proliferation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001179 biolink:NamedThing peritoneal cavity Anatomical cavity bounded by visceral and parietal peritoneum. tmpxe7fu0cj_hp_relaxed.owl cavitas peritonealis|saccus serosus peritonei GAID:24|NCIT:C12769|EHDAA2:0001446|BTO:0001782|VHOG:0000852|SCTID:181616008|EMAPA:16138|UMLS:C1704247|Wikipedia:Peritoneal_cavity|MA:0000054|FMA:14704|MESH:A01.047.025.600.678 uberon owl:Class The potential space between the parietal and visceral layers of the peritoneum, which are normally in contact. The peritoneal cavity is divided into the greater and lesser sac. The greater sac is the peritoneal cavity, and the lesser sac is the omental bursa. [TFD][VHOG] In hagfishes a transverse septum extends upward from the ventral body wall posterior to the heart, partly separating an anterior pericardial cavity from a larger peritoneal cavity. (...) These basic relationships have not been modified by urodeles. The small pericardial cavity remains far forward where it is separated by a transverse septum from the principal coelom, which may now be called a pleuroperitoneal cavity because slender lungs are present. (...) The heart [of other tetrapods] is separated from the lungs (and liver if present) by more or less horizontal partitions that have their origin in the embryo as folds on the serous membrane of the right and left lateral body walls. These grow out to join in the midline of the body. They are called lateral mesocardia (birds) or pleuropericardial membranes. Posteriorly they join the transverse septum to form the adult pericardial membrane, or pericardium. (...) In their partitioning of their coelom, embryonic mammals resemble first early fishes (incomplete partition, posterior to heart, consisting of the transverse septum) and then reptiles (pericardium derived from transverse septum and pleuropericardial membranes) Mammals then separate paired pleural cavities from the peritoneal cavity by a diaphragm. The ventral portion of this organ comes from the transverse septum. The dorsal portion is derived from the dorsal mesentery and from still another pair of outgrowths from the lateral body wall, the pleuroperitoneal membranes.[well established][VHOG] CL:0000039 biolink:NamedThing germ line cell A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring. tmpxe7fu0cj_hp_relaxed.owl Originally this term had some plant germ line cell children. cell owl:Class GO:0050769 biolink:NamedThing positive regulation of neurogenesis Any process that activates or increases the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. tmpxe7fu0cj_hp_relaxed.owl up-regulation of neurogenesis|activation of neurogenesis|up regulation of neurogenesis|upregulation of neurogenesis|stimulation of neurogenesis biological_process owl:Class GO:0110118 biolink:NamedThing negative regulation of compound eye photoreceptor cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of compound eye photoreceptor cell differentiation. tmpxe7fu0cj_hp_relaxed.owl kmv 2018-07-16T18:15:52Z biological_process owl:Class UBERON:0001892 biolink:NamedThing rhombomere A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure.[WP]. tmpxe7fu0cj_hp_relaxed.owl hindbrain neuromere|future rhombencephalon|hindbrain neuromeres|rhombomeres|hindbrain segment|rhombomere|segment of hindbrain EMAPA:16148|VHOG:0000672|DHBA:12664|ZFA:0001064|MIAA:0000272|XAO:0004079|FMA:295666|EFO:0003617|MAT:0000272|Wikipedia:Rhombomere|TAO:0001064|RETIRED_EHDAA2:0000669 uberon owl:Class A segment of the developing hindbrain. Kimmel et al, 1995.[TAO] Rhombomeric segmentation is found in all living vertebrates and is of fundamental importance to the development of the vertebrate head.[well established][VHOG] In human embryonic development, the rhombomeres are present by day 29 DHBA divides this into A(1-3),B(4),C(5-7) and D(8) UBERON:0018099 biolink:NamedThing distal mesopodial endochondral element An endochondral element in the distal portion of the mesopodial skeleton, between the central mesopodial skeleton and the metapodial skeleton. tmpxe7fu0cj_hp_relaxed.owl distal mesopodial TODO add logical definition uberon owl:Class UBERON:0012330 biolink:NamedThing nasal-associated lymphoid tissue The lymphocytic cell population present in the mucosa of the nasopharyngeal duct of some animals. tmpxe7fu0cj_hp_relaxed.owl naso-pharyngeal lymphoid tissue|NALT NCIT:C77659|UMLS:C2698431|FMA:79771|MA:0003030 uberon owl:Class UBERON:0001962 biolink:NamedThing gut-associated lymphoid tissue Mucosa-associated lymphoid tissue in digestive tract. includes Peyer's patches, appendix, and solitary lymph nodules[GO]. tmpxe7fu0cj_hp_relaxed.owl gut associated lymphoid tissue|GALT FMA:62820|NCIT:C12936|UMLS:C0596638|MA:0000136 phylogenetic relationships to be added uberon owl:Class guts of jawless fish contains cells with lymphocyte-like morphology (Mayer 2002). CHEBI:15356 biolink:NamedThing cysteine A sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3. tmpxe7fu0cj_hp_relaxed.owl 2-Amino-3-mercaptopropionic acid|Zystein|C|Cysteine|Hcys|cysteine|2-amino-3-mercaptopropanoic acid|cisteina|Cystein|Cys|2-amino-3-sulfanylpropanoic acid 0 C3H7NO2S InChI=1S/C3H7NO2S/c4-2(1-7)3(5)6/h2,7H,1,4H2,(H,5,6) XUJNEKJLAYXESH-UHFFFAOYSA-N 121.15922 121.01975 NC(CS)C(O)=O Wikipedia:Cysteine|Reaxys:1721406|PMID:25181601|KNApSAcK:C00007323|CAS:3374-22-9|KNApSAcK:C00001351|Beilstein:1721406|KEGG:C00736|PMID:17439666|Gmelin:2933 CHEBI:4050|CHEBI:14061|CHEBI:23508 chebi_ontology owl:Class HP:0033695 biolink:NamedThing Occupational disability This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities. tmpxe7fu0cj_hp_relaxed.owl 2021-03-07 23:02:06+00:00 This term does not intend to include or exclude legal definitions of occupational disability. It is included in the HPO because inability to work is a frequent manifestation of disease comparable in some ways to impairment of activities of daily living. peter owl:Class GO:2000832 biolink:NamedThing negative regulation of steroid hormone secretion Any process that stops, prevents or reduces the frequency, rate or extent of steroid hormone secretion. tmpxe7fu0cj_hp_relaxed.owl bf 2011-07-26T08:38:50Z biological_process owl:Class GO:0046888 biolink:NamedThing negative regulation of hormone secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a hormone from a cell. tmpxe7fu0cj_hp_relaxed.owl down-regulation of hormone secretion|downregulation of hormone secretion|down regulation of hormone secretion|inhibition of hormone secretion biological_process owl:Class HP:0001996 biolink:NamedThing Chronic metabolic acidosis Longstanding metabolic acidosis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0740749 Severe chronic metabolic acidosis has two well-recognized major systemic consequences. First, metabolic acidosis, or acidemia, induces increased protein catabolism, decreased protein synthesis, and negative nitrogen and total body protein balance, which improve upon bicarbonate supplementation. Second, metabolic acidosis causes physicochemical dissolution of bone and cell-mediated bone resorption by inhibition of osteoblast and stimulation of osteoclast function. human_phenotype owl:Class HP:0500132 biolink:NamedThing Hypovalinemia A decreased amount of valine in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood valine concentration 2018-10-01 14:47:05+00:00 owl:Class HP:0012358 biolink:NamedThing Abnormal protein O-linked glycosylation An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022933 peter 2013-09-15T10:26:49Z human_phenotype owl:Class CHEBI:57948 biolink:NamedThing 5-oxo-D-prolinate The conjugate base of 5-oxo-D-proline; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl 5-oxo-D-prolinate|5-oxo-D-proline|5-oxo-D-prolinate anion|(2R)-5-oxopyrrolidine-2-carboxylate|5-oxo-D-prolinate(1-) -1 C5H6NO3 InChI=1S/C5H7NO3/c7-4-2-1-3(6-4)5(8)9/h3H,1-2H2,(H,6,7)(H,8,9)/p-1/t3-/m1/s1 ODHCTXKNWHHXJC-GSVOUGTGSA-M 128.10600 128.03532 [O-]C(=O)[C@H]1CCC(=O)N1 chebi_ontology owl:Class HP:0032159 biolink:NamedThing Fungal meningitis An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis. tmpxe7fu0cj_hp_relaxed.owl 2018-12-09 12:21:08+00:00 peter owl:Class HP:0001287 biolink:NamedThing Meningitis Inflammation of the meninges. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0025289|MSH:D008581|SNOMEDCT_US:7180009 human_phenotype owl:Class HP:0032874 biolink:NamedThing Focal impaired awareness cognitive seizure with auditory agnosia A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0009758 biolink:NamedThing abdominal ganglion A ganglion that is part of a abdominal segment of trunk. tmpxe7fu0cj_hp_relaxed.owl SCTID:280508003 uberon owl:Class HP:0004755 biolink:NamedThing Supraventricular tachycardia Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. tmpxe7fu0cj_hp_relaxed.owl Supraventricular tachyarrhythmia|SVT SNOMEDCT_US:6456007|UMLS:C0039240|UMLS:C1698480|MSH:D013617 A narrow complex (QRS width less than 120 milliseconds) reflects rapid activation of the ventricles via the normal conduction pathway, i.e. His-Purkinje system, which in turn suggests that the tachycardia originated above the AV node and is thus supraventricular. human_phenotype owl:Class HP:0005115 biolink:NamedThing Supraventricular arrhythmia A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. tmpxe7fu0cj_hp_relaxed.owl arrhythmias, Supraventricular UMLS:C0428974|SNOMEDCT_US:72654001 Supraventricular arrhythmia includes atrial arrhythmias (atrial tachycardia, atrial flutter, atrial fibrillation), atrioventricular nodal reentrant tachycardia, junctional ectopic tachycardia, atrioventricular reentrant tachycardia (Wolf-Parkinson-White Syndrome), orthodromic or antidromic. Supraventricular arrhythmia is distinct from ventricular tachycardia, which originates in the ventricles. peter 2008-03-25T06:37:00Z human_phenotype owl:Class UBERON:0004516 biolink:NamedThing smooth muscle tissue of terminal bronchiole A portion of smooth muscle tissue that is part of a terminal bronchiole [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:261051 uberon owl:Class UBERON:0004515 biolink:NamedThing smooth muscle tissue of bronchiole A portion of smooth muscle tissue that is part of a bronchiole [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl smooth muscle tissue of lobular bronchiole FMA:261081|FMA:261045 uberon owl:Class UBERON:0006805 biolink:NamedThing sternal end of clavicle Medial end of the clavicle, which usually lies on the ventral side of the epicoracoid cartilage, just posterior to the epicoracoid bridge. tmpxe7fu0cj_hp_relaxed.owl extremitas sternalis (clavicula)|extremitas medialis|medial end of clavicle|proximal epyphysis of clavicle|extremitas sternalis claviculae|medial end AAO:0000812|FMA:23297 uberon owl:Class UBERON:0011158 biolink:NamedThing primary subdivision of skull The skull can be divided into two: the neurocranium and the facial skeleton. tmpxe7fu0cj_hp_relaxed.owl subdivision of skull|skull subdivision FMA:54964 uberon owl:Class HP:0012508 biolink:NamedThing Metamorphopsia A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:42134006|MSH:D014786|UMLS:C0271185 peter 2013-12-08T08:21:46Z human_phenotype owl:Class HP:0100328 biolink:NamedThing Carpometacarpal synostosis Fusion involving carpal and metacarpal bones. tmpxe7fu0cj_hp_relaxed.owl Fused wrist bones and long bones of hand UMLS:C4022145 doelkens 2010-10-08T03:52:00Z human_phenotype owl:Class UBERON:0001429 biolink:NamedThing pisiform A laterally positioned sesamoid bone found in close proximity with and occasionally fused to the ulnare. tmpxe7fu0cj_hp_relaxed.owl os pisiforme|pisiform bone|accessory carpal bone NCIT:C12855|UMLS:C0223729|galen:Pisiform|MA:0001339|FMA:23718|OpenCyc:Mx4rvtByTZwpEbGdrcN5Y29ycA|EMAPA:36165 http://upload.wikimedia.org/wikipedia/commons/5/50/Carpus.png check: accessory carpal uberon owl:Class UBERON:0001480 biolink:NamedThing proximal carpal bone A carpal bone that proximally_connected_to a forelimb zeugopod skeleton. tmpxe7fu0cj_hp_relaxed.owl EMAPA:36164|MA:0002557|FMA:33302 uberon owl:Class GO:1904018 biolink:NamedThing positive regulation of vasculature development Any process that activates or increases the frequency, rate or extent of vasculature development. tmpxe7fu0cj_hp_relaxed.owl upregulation of vasculature development|up-regulation of vasculature development|up regulation of vascular system development|up regulation of vasculature development|activation of vascular system development|upregulation of vascular system development|positive regulation of vascular system development|activation of vasculature development|up-regulation of vascular system development sl 2015-03-06T22:17:04Z biological_process owl:Class GO:0040029 biolink:NamedThing regulation of gene expression, epigenetic A process that modulates the frequency, rate or extent of gene expression by remodelling of chromatin by either modifying the chromatin fiber, the nucleosomal histones, or the DNA. Once established, this regulation may be maintained over many cell divisions. It can also be heritable in the absence of the instigating signal. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/22201 biological_process owl:Class HP:0031372 biolink:NamedThing Cold paresis Increased muscle weakness upon exposure to cold temperatures. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 01:39:18+00:00 peter owl:Class GO:0010906 biolink:NamedThing regulation of glucose metabolic process Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. tmpxe7fu0cj_hp_relaxed.owl regulation of glucose metabolism biological_process owl:Class HP:0005527 biolink:NamedThing Reduced kininogen activity Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade. tmpxe7fu0cj_hp_relaxed.owl Williams-Fitzgerald-Flaujeac factor deficiency|Kininogen deficiency|Fitzgerald factor deficiency|Williams factor deficiency SNOMEDCT_US:27312002|UMLS:C0272340|MSH:C537060 Kininogen is cleaved into the following 6 chains: 1) Kininogen-1 heavy chain; 2) T-kinin; 3) Bradykinin; 4) Lysyl-bradykinin; 5) Kininogen-1 light chain; and 6) Low molecular weight growth-promoting factor. HP:0005538|HP:0005500|HP:0005530|HP:0004867 human_phenotype owl:Class UBERON:0034706 biolink:NamedThing proliferating neuroepithelium An epithelium that is undergoing proliferation to provide large numbers of neuronal cells. tmpxe7fu0cj_hp_relaxed.owl AEO:0001009 uberon owl:Class UBERON:0003625 biolink:NamedThing manual digit 5 5th digit of the manus. tmpxe7fu0cj_hp_relaxed.owl manual digitus V|manus quintus|manual digit V|finger 5|5th finger|5th digit of hand|manus digiti minimi|digit 5 of fore-paw|fore limb digit 5|hand digit 5|fore digit V|little finger|manual digitus minimus|fifth finger|fifth digit of hand FMA:24949|MA:0000458|EHDAA2:0000535|EMAPA:17441|AAO:0010643|UMLS:C0230403|NCIT:C52838 http://upload.wikimedia.org/wikipedia/commons/e/ed/Pink.jpg uberon owl:Class UBERON:0006052 biolink:NamedThing digit 5 A digit that is part of a digit 5 plus metapodial segment. tmpxe7fu0cj_hp_relaxed.owl digit V|fifth digit|digiti minimi|autopod digit 5|limb digit 5 EMAPA:37289|EMAPA:17441 uberon owl:Class 5 HP:0004237 biolink:NamedThing Large carpal bones Increased size of carpal bones. tmpxe7fu0cj_hp_relaxed.owl Large carpals|Large wrist bones UMLS:C4021671 human_phenotype owl:Class HP:0009522 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of the middle bone of the index finger UMLS:C4024311 doelkens 2009-01-16T01:12:17Z human_phenotype owl:Class UBERON:0003254 biolink:NamedThing amniotic ectoderm tmpxe7fu0cj_hp_relaxed.owl amnionic ectoderm|amnion epithelium|amnion ectoderm EHDAA:138|BTO:0000897|VHOG:0000621|EHDAA2:0000117|EMAPA:16110 we make the germ layer relationship develops_from, as currently the germ layers are declared to be purely embryonic. TODO - check. WP:Amnion - In the human embryo the earliest stages of the formation of the amnion have not been observed; in the youngest embryo which has been studied the amnion was already present as a closed sac, and appears in the inner cell-mass as a cavity. This cavity is roofed in by a single stratum of flattened, ectodermal cells, the amniotic ectoderm, and its floor consists of the prismatic ectoderm of the embryonic disk-the continuity between the roof and floor being established at the margin of the embryonic disk. Outside the amniotic ectoderm is a thin layer of mesoderm, which is continuous with that of the somatopleure and is connected by the body-stalk with the mesodermal lining of the chorion. UBERON:0008359 uberon owl:Class HP:0010922 biolink:NamedThing Membranous cataract A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0524524|MSH:D002386 peter 2010-12-12T12:31:45Z human_phenotype owl:Class UBERON:0003441 biolink:NamedThing forelimb nerve A nerve that is part of a forelimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl fore limb nerve|nerve of upper extremity|nerve of superior member|wing nerve|nerve of fore limb|nerve of forelimb EMAPA:37334|MA:0000616 uberon owl:Class HP:0030385 biolink:NamedThing Increased proportion of marginal zone B cells An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072923 owl:Class HP:0008824 biolink:NamedThing Hypoplastic iliac body Underdevelopment of the body of ilium. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic iliac bodies|Small iliac bodies UMLS:C1849034 HP:0005740 human_phenotype owl:Class CHEBI:17089 biolink:NamedThing glycoprotein A compound in which a carbohydrate component is covalently bound to a protein component. tmpxe7fu0cj_hp_relaxed.owl glycoproteines|glycoproteine|Glykoproteine|glicoproteina|glycoproteins|Glycoprotein|glicoproteinas|Glykoprotein KEGG:C00326 CHEBI:5481|CHEBI:14349|CHEBI:5493 chebi_ontology owl:Class GO:0003220 biolink:NamedThing left ventricular cardiac muscle tissue morphogenesis The process in which the anatomical structures of left cardiac ventricle muscle are generated and organized. tmpxe7fu0cj_hp_relaxed.owl left ventricular myocardium morphogenesis dph 2009-10-13T10:18:05Z biological_process owl:Class CHEBI:59554 biolink:NamedThing medium-chain fatty acid Any fatty acid with a chain length of between C6 and C12. tmpxe7fu0cj_hp_relaxed.owl MCFA|MCFAs|medium-chain fatty acids 0 CHO2R 45.01740 44.99765 OC([*])=O chebi_ontology owl:Class GO:0042373 biolink:NamedThing vitamin K metabolic process The chemical reactions and pathways involving any of the forms of vitamin K, quinone-derived vitamins which are involved in the synthesis of blood-clotting factors in mammals. Vitamin K substances share a methylated naphthoquinone ring structure and vary in the aliphatic side chains attached to the molecule. tmpxe7fu0cj_hp_relaxed.owl naphthoquinone metabolic process|vitamin K metabolism|naphthoquinone metabolism biological_process owl:Class GO:1901661 biolink:NamedThing quinone metabolic process The chemical reactions and pathways involving quinone. tmpxe7fu0cj_hp_relaxed.owl quinone cofactor metabolic process|quinone cofactor metabolism|quinone metabolism pr 2012-11-20T14:44:39Z GO:0042375 biological_process owl:Class HP:0030607 biolink:NamedThing Reduced OCT-measured macular thickness tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073077 owl:Class HP:0030606 biolink:NamedThing Abnormal OCT-measured macular thickness tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073076 owl:Class GO:0022610 biolink:NamedThing biological adhesion The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0033043 biolink:NamedThing regulation of organelle organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. tmpxe7fu0cj_hp_relaxed.owl regulation of organelle organisation|regulation of organelle organization and biogenesis biological_process owl:Class GO:0060221 biolink:NamedThing retinal rod cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a retinal rod cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0060219 biolink:NamedThing camera-type eye photoreceptor cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a photoreceptor cell in a camera-type eye. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0008340 biolink:NamedThing nasal bridge A saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canth[WP]. tmpxe7fu0cj_hp_relaxed.owl MA:0002874 uberon owl:Class HP:0030934 biolink:NamedThing Oral erythroplakia A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed. tmpxe7fu0cj_hp_relaxed.owl Oral erythroplasia 2016-11-07 18:48:22+00:00 Oral erythroplakia may be related to local irritants and infection, candida infection. Oral erythroplakia may be dysplastic or (pre-)neoplastic. robinp owl:Class HP:0002518 biolink:NamedThing Abnormal periventricular white matter morphology A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. tmpxe7fu0cj_hp_relaxed.owl Periventricular white matter abnormalities|Abnormality of the periventricular white matter UMLS:C2673431 owl:Class HP:0002352 biolink:NamedThing Leukoencephalopathy This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:22811006|UMLS:C0270612|MSH:D056784 This feature can be demonstrated by magnetic resonance imaging or computer tomography. HP:0006838|HP:0007073 human_phenotype owl:Class UBERON:0036245 biolink:NamedThing parenchyma of mammary gland Parenchymal tissue that consists of the alveoli, grape-like clusters where milk is stored, and branching ducts, which are tubular canals carrying gladular secretions. tmpxe7fu0cj_hp_relaxed.owl lactiferous gland parenchyma|mammary gland parenchyma|parenchyma of lactiferous gland uberon owl:Class GO:0042117 biolink:NamedThing monocyte activation The change in morphology and behavior of a monocyte resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0032639 biolink:NamedThing Elevated leukocyte cystine An increased concentration of cystine within white blood cells. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0003358 biolink:NamedThing Elevated intracellular cystine An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025623 Cystine is a dimeric amino acid formed by the oxidation of two cysteine residues to form a disulfide bond. human_phenotype owl:Class HP:0410153 biolink:NamedThing Increased level of methylsuccinic acid in urine An increase in the level of methylsuccinic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased level of pyrotartaric acid in urine 2018-03-27 21:49:40+00:00 owl:Class HP:0003215 biolink:NamedThing Dicarboxylic aciduria An increased concentration of dicarboxylic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856432 Dicarboxylic aciduria occurs during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in the urine. owl:Class HP:0002630 biolink:NamedThing Fat malabsorption Abnormality of the absorption of fat from the gastrointestinal tract. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0554103|SNOMEDCT_US:197494007 human_phenotype owl:Class GO:1905386 biolink:NamedThing positive regulation of protein localization to presynapse Any process that activates or increases the frequency, rate or extent of protein localization to presynapse. tmpxe7fu0cj_hp_relaxed.owl positive regulation of protein localisation to presynapse|positive regulation of recruitment of presynaptic proteins|activation of recruitment of presynaptic proteins|upregulation of protein localization in presynapse|up regulation of protein localization to presynapse|up regulation of protein localisation in presynapse|activation of protein localisation to presynapse|activation of protein localization to presynapse|positive regulation of protein localisation in presynapse|upregulation of protein localisation to presynapse|upregulation of recruitment of presynaptic proteins|up-regulation of protein localization in presynapse|up-regulation of protein localization to presynapse|positive regulation of protein localization in presynapse|up regulation of protein localization in presynapse|activation of protein localization in presynapse|upregulation of protein localization to presynapse|up regulation of protein localisation to presynapse|up-regulation of protein localisation to presynapse|upregulation of protein localisation in presynapse|up-regulation of protein localisation in presynapse|up-regulation of recruitment of presynaptic proteins|activation of protein localisation in presynapse|up regulation of recruitment of presynaptic proteins dos 2016-08-18T14:56:21Z biological_process owl:Class HP:0007601 biolink:NamedThing Midline facial capillary hemangioma tmpxe7fu0cj_hp_relaxed.owl UMLS:C1840310 human_phenotype owl:Class HP:0033364 biolink:NamedThing Lipoid pneumonia A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid. tmpxe7fu0cj_hp_relaxed.owl 2020-12-16 11:45:01+00:00 peter owl:Class GO:0007286 biolink:NamedThing spermatid development tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0007281 biolink:NamedThing germ cell development The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl primordial germ cell development|germ-cell development biological_process owl:Class GO:0034434 biolink:NamedThing sterol esterification A lipid modification process in which a sterol ester is formed by the combination of a carboxylic acid (often a fatty acid) and a sterol molecule (e.g. cholesterol). tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0034433 biolink:NamedThing steroid esterification A lipid modification process in which a steroid ester is formed by the combination of a carboxylic acid (often a fatty acid) and a steroid molecule (e.g. cholesterol). tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0086070 biolink:NamedThing SA node cell to atrial cardiac muscle cell communication The process that mediates interactions between an SA node cardiomyocyte and its surroundings that contributes to the process of the SA node cardiomyocyte communicating with an atrial cardiomyocyte in cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpxe7fu0cj_hp_relaxed.owl SA node cardiac muscle cell to atrial cardiac muscle cell communication|sinus node cardiomyocyte to atrial cardiomyocyte communication|sinoatrial node cardiomyocyte to atrial cardiomyocyte communication|SAN cardiomyocyte to atrial cardiomyocyte communication|SA node cardiomyocyte to atrial cardiomyocyte communication dph 2011-11-22T09:32:45Z biological_process owl:Class HP:0100925 biolink:NamedThing Sclerosis of foot bone An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Sclerosis of bones of the feet|Increased bone density in foot bone UMLS:C4020931 doelkens 2011-12-02T11:12:32Z human_phenotype owl:Class HP:0011001 biolink:NamedThing Increased bone mineral density An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. tmpxe7fu0cj_hp_relaxed.owl Osteosclerosis of bones|Increased bone mineral density|Increased bone density|Osteosclerosis UMLS:C0029464|MSH:D010026|SNOMEDCT_US:49347007 This term may be merged with Increased bone density in the future or made obsolete. sdoelken 2011-02-13T11:57:32Z HP:0010738|HP:0004350|HP:0005711|HP:0005741|HP:0002796 human_phenotype owl:Class HP:0100373 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Absent/small middle bone of the 4th toe|Absent/underdeveloped middle bone of the 4th toe UMLS:C4022118 human_phenotype owl:Class HP:0011295 biolink:NamedThing EEG with parietal sharp waves EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2206520 peter 2012-02-11T12:33:29Z human_phenotype owl:Class HP:0033719 biolink:NamedThing EEG with parietal epileptiform discharges Focal epileptiform EEG discharges recorded in the parietal region. tmpxe7fu0cj_hp_relaxed.owl 2021-04-07 12:59:53+00:00 peter owl:Class HP:0012832 biolink:NamedThing Bilateral Being present on both sides of the body. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:51440002|UMLS:C0238767 peter 2014-06-06T07:20:42Z human_phenotype owl:Class HP:0012831 biolink:NamedThing Laterality The localization with respect to the side of the body of the specified phenotypic abnormality. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:272741003|UMLS:C0332304 peter 2014-06-06T07:19:19Z human_phenotype owl:Class CHEBI:65212 biolink:NamedThing polysaccharide derivative A carbohydrate derivative that is any derivative of a polysaccharide. tmpxe7fu0cj_hp_relaxed.owl polysaccharide derivatives chebi_ontology owl:Class CHEBI:62761 biolink:NamedThing tyrosine derivative An amino acid derivative resulting from reaction of tyrosine at the amino group or the carboxy group, any substitution of phenyl hydrogens, or from the replacement of any hydrogen of tyrosine by a heteroatom. The definition normally excludes peptides containing tyrosine residues. tmpxe7fu0cj_hp_relaxed.owl tyrosine derivatives chebi_ontology owl:Class UBERON:0013159 biolink:NamedThing epithalamus mantle layer tmpxe7fu0cj_hp_relaxed.owl mantle layer of epithalamus|mantle layer epithalamus EHDAA2:0000449|EHDAA:5435|EMAPA:17533|VHOG:0000913 uberon owl:Class HP:0410204 biolink:NamedThing Increased intestinal transit time An increase in the length of time required for food to pass through the intestines. tmpxe7fu0cj_hp_relaxed.owl 2018-08-15 02:19:44+00:00 owl:Class HP:0030896 biolink:NamedThing Abnormal gastrointestinal transit time A deviation from the normal amount of time required for food to pass through the intestines. tmpxe7fu0cj_hp_relaxed.owl Abnormal GI transit time Gastrointestinal motility is usually described in terms of regional transit times or as intraluminal pressure changes. Scintigraphy is the gold standard for determination of gastric emptying and small intestinal transit owl:Class GO:0009100 biolink:NamedThing glycoprotein metabolic process The chemical reactions and pathways involving glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpxe7fu0cj_hp_relaxed.owl glycoprotein metabolism biological_process owl:Class HP:0003973 biolink:NamedThing Wide radioulnar joints tmpxe7fu0cj_hp_relaxed.owl Broad radioulnar joints UMLS:C4021699 human_phenotype owl:Class HP:0010401 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Fused innermost bone of the 2nd toe UMLS:C4023853 doelkens 2009-07-16T11:58:15Z human_phenotype owl:Class HP:0012698 biolink:NamedThing Cerebellar gliosis Focal proliferation of glial cells in the cerebellum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022768 peter 2014-03-22T06:03:03Z owl:Class CHEBI:38867 biolink:NamedThing anaesthetic Substance which produces loss of feeling or sensation. tmpxe7fu0cj_hp_relaxed.owl anaesthetics|anesthetic drug|anesthetics|anaesthetic|Anaesthetikum|Anaesthetika|anesthetic agent chebi_ontology owl:Class GO:0045738 biolink:NamedThing negative regulation of DNA repair Any process that stops, prevents, or reduces the frequency, rate or extent of DNA repair. tmpxe7fu0cj_hp_relaxed.owl down regulation of DNA repair|downregulation of DNA repair|inhibition of DNA repair|down-regulation of DNA repair biological_process owl:Class UBERON:0008772 biolink:NamedThing proximal epiphysis of tibia A proximal epiphysis that is part of a tibia. tmpxe7fu0cj_hp_relaxed.owl proximal tibial epiphysis|upper end of tibia|head of tibia|proximal end of tibia UMLS:C0932431|FMA:33113|NCIT:C32722 uberon owl:Class UBERON:0004468 biolink:NamedThing set of muscles of vertebral column tmpxe7fu0cj_hp_relaxed.owl muscle group of vertebral column FMA:33061 uberon owl:Class UBERON:0018530 biolink:NamedThing male inguinal ring An inguinal ring that is part of a male reproductive system. tmpxe7fu0cj_hp_relaxed.owl EMAPA:29307 uberon owl:Class UBERON:0006674 biolink:NamedThing inguinal ring An entrance or exit of the inguinal canal. tmpxe7fu0cj_hp_relaxed.owl EMAPA:29307|FMA:65075 uberon owl:Class HP:0031096 biolink:NamedThing Delayed vertebral ossification A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age. tmpxe7fu0cj_hp_relaxed.owl 2017-05-30 02:04:19+00:00 peter owl:Class HP:0010041 biolink:NamedThing Short 3rd metacarpal Short third metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Short third metacarpals|Hypoplastic 3rd metacarpal|Shortened 3rd long bone of hand|Small 3rd metacarpals UMLS:C1850631 doelkens 2009-05-27T04:36:08Z HP:0005624|HP:0006074|HP:0006120 human_phenotype owl:Class HP:0010049 biolink:NamedThing Short metacarpal Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. tmpxe7fu0cj_hp_relaxed.owl Shortened long bone of hand|Shortened metacarpals|Metacarpal hypoplasia|Short metacarpal bones|Shortening of metacarpals|Brachymetacarpalia|Shortened long bones of hand|Hypoplastic metacarpal|Short metacarpals UMLS:C1837084 Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm. doelkens 2009-05-27T04:40:58Z HP:0001164|HP:0005909|HP:0005717|HP:0006047|HP:0006186|HP:0005695|HP:0006183 owl:Class CL:0002144 biolink:NamedThing capillary endothelial cell An endothelial cell found in capillaries. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-0112|BTO:0004956|FMA:67756 tmeehan 2010-08-24T10:15:00Z cell owl:Class CL:0000071 biolink:NamedThing blood vessel endothelial cell An endothelial cell that lines the vasculature. tmpxe7fu0cj_hp_relaxed.owl cuboidal endothelial cell of vascular tree cell owl:Class HP:0012557 biolink:NamedThing EEG with centrotemporal focal spike waves EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022848 peter 2014-01-04T01:43:32Z human_phenotype owl:Class HP:0011197 biolink:NamedThing EEG with focal spike waves EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023477 hecht 2011-11-19T11:12:45Z human_phenotype owl:Class HP:0033309 biolink:NamedThing Ileoileal intussusception A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 22:16:36+00:00 peter owl:Class HP:0002576 biolink:NamedThing Intussusception An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:35327006|MEDDRA:10022863|UMLS:C0021933|MSH:D007443|SNOMEDCT_US:49723003 Intussusception can lead to intestinal obstruction as well as to the interruption of the blood supply to the intestine. It can affect small or large bowel. human_phenotype owl:Class UBERON:0001566 biolink:NamedThing cricothyroid muscle Intrinsic muscle of the larynx, innervated by the external division of the laryngeal nerve, a branch of the vagus nerve. It attaches to the anterolateral surface of the cricoid cartilage and the external surface of the thyroid cartilage. tmpxe7fu0cj_hp_relaxed.owl cricothyroideus|M. cricothyroideus|musculus cricothyroideus|cricothyroid UMLS:C0224178|EMAPA:19270|FMA:46417|MA:0002284|NCIT:C32404|MFMO:0000324 http://upload.wikimedia.org/wikipedia/commons/f/f4/Musculuscricothyreoideus.png uberon owl:Class HP:0009831 biolink:NamedThing Mononeuropathy A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution. tmpxe7fu0cj_hp_relaxed.owl Single damaged nerve UMLS:C0494491|MSH:D020422|SNOMEDCT_US:128189008 peter 2009-03-01T08:27:29Z human_phenotype owl:Class UBERON:0008188 biolink:NamedThing tendon of biceps brachii A tendon that attaches_to a biceps brachii. tmpxe7fu0cj_hp_relaxed.owl tendon of biceps brachii muscle|biceps brachii tendon EMAPA:25053|FMA:38152 uberon owl:Class HP:0030357 biolink:NamedThing Small cell lung carcinoma Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly. tmpxe7fu0cj_hp_relaxed.owl Oat cell lung cancer|Small cell lung cancer|Oat cell carcinoma of lung UMLS:C0149925|SNOMEDCT_US:254632001|MSH:D055752|SNOMEDCT_US:254633006 owl:Class HP:0100526 biolink:NamedThing Neoplasm of the lung Tumor of the lung. tmpxe7fu0cj_hp_relaxed.owl Lung cancer|Lung tumor|Lung tumour NCIT:C3262|SNOMEDCT_US:126713003|UMLS:C0024121|MSH:D008175 doelkens 2010-12-20T11:47:12Z human_phenotype owl:Class HP:0009501 biolink:NamedThing Abnormality of the epiphysis of the proximal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Epiphyseal abnormality of the proximal phalanx of the 2nd finger UMLS:C4021462 doelkens 2009-01-16T01:08:35Z HP:0004127 human_phenotype owl:Class GO:1901360 biolink:NamedThing organic cyclic compound metabolic process The chemical reactions and pathways involving organic cyclic compound. tmpxe7fu0cj_hp_relaxed.owl organic cyclic compound metabolism bf 2012-09-14T09:03:51Z biological_process owl:Class HP:0002657 biolink:NamedThing Spondylometaphyseal dysplasia tmpxe7fu0cj_hp_relaxed.owl MSH:C537501|UMLS:C0700635|SNOMEDCT_US:702350003 human_phenotype owl:Class UBERON:0005228 biolink:NamedThing upper arm epithelium An epithelium that is part of a forelimb stylopod [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0002113|VHOG:0000990|EMAPA:17425 uberon owl:Class NCBITaxon:1 biolink:NamedThing root tmpxe7fu0cj_hp_relaxed.owl all GC_ID:1 ncbi_taxonomy owl:Class CL:0000287 biolink:NamedThing eye photoreceptor cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class UBERON:0011648 biolink:NamedThing jaw muscle tmpxe7fu0cj_hp_relaxed.owl mandibular muscle|mandibular muscles XAO:0003269|ZFA:0000236|TAO:0000236|AAO:0000247|EFO:0003511 uberon owl:Class HP:0004338 biolink:NamedThing Abnormal circulating aromatic amino acid concentration Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of aromatic amino acid family metabolism UMLS:C4025352 peter 2008-03-08T07:55:00Z human_phenotype owl:Class GO:0150110 biolink:NamedThing negative regulation of cholesterol esterification Any process that stops, prevents or reduces the frequency, rate or extent of cholesterol esterification. tmpxe7fu0cj_hp_relaxed.owl bc 2019-07-23T15:34:42Z biological_process owl:Class UBERON:0012319 biolink:NamedThing posterior ethmoidal artery The posterior ethmoidal artery is an artery of the head. It is smaller than the anterior ethmoidal artery, branches off from the ophthalmic artery when it reaches the medial wall of the orbit. tmpxe7fu0cj_hp_relaxed.owl arteria ethmoidalis posterior|a. ethmoidalis posterior|posterior ethmoidal vessel FMA:49989 uberon owl:Class UBERON:0009668 biolink:NamedThing ventral mesentery Ventral mesentery is the part of the peritoneum closest to the navel. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004569 uberon owl:Class degenerates during development except foregut portion HP:0025413 biolink:NamedThing Fossa navicularis urethral stricture A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 11:16:18+00:00 The fossa navicularis is the small normal dilatation of the distal penile urethra. HPO:probinson owl:Class HP:0032763 biolink:NamedThing Focal autonomic seizure with pupillary dilation/constriction A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0006915 biolink:NamedThing stratified squamous epithelium Multilaminar epithelium which consists of more than one layer of squamous cells only one layer of which is in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, epithelium of wall of esophagus.[FMA]. tmpxe7fu0cj_hp_relaxed.owl epithelium stratificatum squamosum NCIT:C13180|UMLS:C0836131|FMA:45563|Wikipedia:Stratified_squamous_epithelium uberon owl:Class CHEBI:59874 biolink:NamedThing N-acyl-L-alpha-amino acid anion A carboxylic acid anion that is the conjugate base of an N-acyl-L-alpha-amino acid arising from deprotonation of the C-1 carboxy group. tmpxe7fu0cj_hp_relaxed.owl N-acyl-L-alpha-amino acid(1-)|an N-acyl-L-amino acid -1 C3H2NO3R2 100.05290 100.00347 [O-]C(=O)[C@H]([*])NC([*])=O chebi_ontology owl:Class HP:0033167 biolink:NamedThing Neutrophilic urticarial dermatosis A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present. tmpxe7fu0cj_hp_relaxed.owl 2020-09-24 09:39:14+00:00 Neutrophilic urticarial dermatosis is typically accompanied by systemic symptoms including fever and arthralgias. peter owl:Class UBERON:0034719 biolink:NamedThing lip taste bud A taste bud that is located on a lip. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0003384 biolink:NamedThing skeletal muscle tissue of pharynx A portion of skeletal muscle tissue that is part of a pharynx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pharynx skeletal muscle tissue|pharynx skeletal muscle|skeletal muscle tissue of pharynx EMAPA:18963 uberon owl:Class HP:0030553 biolink:NamedThing Visual acuity no light perception tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:63063006|UMLS:C0442774 owl:Class HP:0030532 biolink:NamedThing Visual acuity test abnormality tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073006 owl:Class GO:0046887 biolink:NamedThing positive regulation of hormone secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a hormone from a cell. tmpxe7fu0cj_hp_relaxed.owl stimulation of hormone secretion|up-regulation of hormone secretion|upregulation of hormone secretion|activation of hormone secretion|up regulation of hormone secretion biological_process owl:Class CL:0000550 biolink:NamedThing polychromatophilic erythroblast A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers. tmpxe7fu0cj_hp_relaxed.owl intermediate erythroblast|polychromatophilic normoblast|polychromatic normoblast|rubricyte|polychromatic erythroblast|intermediate normoblast FMA:83506 cell owl:Class HP:0002764 biolink:NamedThing Stippled chondral calcification Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025679 See the figure in PMID:29246349 owl:Class HP:0002832 biolink:NamedThing Calcific stippling An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs). tmpxe7fu0cj_hp_relaxed.owl Discrete calcific stippling UMLS:C1849993 HP:0005738 human_phenotype owl:Class CL:0002159 biolink:NamedThing general ecto-epithelial cell Epithelial cells derived from general body ectoderm and ectoderm placodes. tmpxe7fu0cj_hp_relaxed.owl FMA:70556 tmeehan 2010-08-26T08:31:08Z cell owl:Class HP:0000658 biolink:NamedThing Eyelid apraxia tmpxe7fu0cj_hp_relaxed.owl Difficulty opening the eyelids SNOMEDCT_US:423142006|UMLS:C1142448 human_phenotype owl:Class HP:0500086 biolink:NamedThing Optic nerve gray crescent Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. tmpxe7fu0cj_hp_relaxed.owl Temporal gray pigmentary crescent|Temporal grey pigmentary crescent|Optic nerve grey crescent 2018-03-20 19:55:34+00:00 This type of disc rim pigmentation can create the impression of neuroretinal rim thinning, and thus lead to the misdiagnosis of glaucoma or "glaucoma suspect" with attendant implications for overtreatment or unnecessary close monitoring of such patients. owl:Class HP:0012511 biolink:NamedThing Temporal optic disc pallor A pale yellow discoloration of the temporal (lateral) portion of the optic disc. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0344299|SNOMEDCT_US:247220006 Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head. peter 2013-12-08T08:55:48Z human_phenotype owl:Class GO:2000259 biolink:NamedThing positive regulation of protein activation cascade Any process that activates or increases the frequency, rate or extent of protein activation cascade. tmpxe7fu0cj_hp_relaxed.owl positive regulation of protein activitory cascade|positive regulation of protein activation pathway mah 2010-11-23T11:33:55Z biological_process owl:Class GO:0051247 biolink:NamedThing positive regulation of protein metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein. tmpxe7fu0cj_hp_relaxed.owl up regulation of protein metabolic process|up-regulation of protein metabolic process|stimulation of protein metabolic process|positive regulation of protein metabolism|upregulation of protein metabolic process|activation of protein metabolic process biological_process owl:Class HP:0033569 biolink:NamedThing Extreme axis deviation A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right. tmpxe7fu0cj_hp_relaxed.owl 2021-01-24 13:43:17+00:00 peter owl:Class HP:0033566 biolink:NamedThing Abnormal ventricular axis Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization. tmpxe7fu0cj_hp_relaxed.owl Abnormal QRS axis 2021-01-24 13:37:25+00:00 The normal adult QRS axis is between -30 degrees and +90 degrees, which is directed downward and to the left. peter owl:Class HP:0032732 biolink:NamedThing Focal aware motor seizure with paresis/paralysis A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal motor aware seizure with paresis/paralysis peter owl:Class HP:0009149 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 5th finger A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the outermost bone of pinkie finger|Triangular end part of the outermost bone of little finger|Delta-shaped epiphysis of the distal phalanx of the 5th finger|Triangular end part of the outermost bone of pinky finger UMLS:C4021519 peter 2008-12-22T01:40:48Z HP:0009137 human_phenotype owl:Class UBERON:0008823 biolink:NamedThing neural tube derived brain A brain that develops_from a neural tube. tmpxe7fu0cj_hp_relaxed.owl vertebrate brain a reasoner should automatically classify all the vertebrate ontology brain classes here uberon https://github.com/obophenotype/uberon/issues/338 owl:Class UBERON:0000955 biolink:NamedThing brain The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]. tmpxe7fu0cj_hp_relaxed.owl encephalon|suprasegmental levels of nervous system|suprasegmental structures|the brain|synganglion PBA:3999|AAO:0010478|FBbt:00005095|MESH:D001921|FMA:50801|MIAA:0000098|MBA:997|BILA:0000135|BIRNLEX:796|UMLS:C0006104|EHDAA2:0000183|EHDAA:6485|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=21|GAID:571|Wikipedia:Brain|CALOHA:TS-0095|MAT:0000098|EFO:0000302|SCTID:258335003|galen:Brain|DHBA:10155|EV:0100164|VHOG:0000157|OpenCyc:Mx4rvVjT65wpEbGdrcN5Y29ycA|EMAPA:16894|BAMS:Brain|TAO:0000008|ZFA:0000008|BAMS:Br|NCIT:C12439|EHDAA:2641|HBA:4005|MBA:8|MA:0000168|XAO:0000010|UMLS:C1269537|ABA:Brain|BTO:0000142 requires review for applicability to invertebrate structures, e.g. synganglion uberon owl:Class Part of the central nervous system situated within the cranium and composed of both nerve cell bodies and nerve fibers.[AAO]|The part of the central nervous system contained within the cranium, comprising the forebrain, midbrain, hindbrain, and metencephalon. It is derived from the anterior part of the embryonic neural tube (or the encephalon). Does not include retina. (CUMBO)|Cavitated compound organ which is comprised of gray and white matter and surrounds the cerebral ventricular system.[TAO] (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2).[well established][VHOG] HP:0011160 biolink:NamedThing Focal sensory seizure with gustatory features A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation. tmpxe7fu0cj_hp_relaxed.owl Focal sensory gustatory seizure|Gustatory aura|Taste hallucinations|Gustatory auras|Partial gustatory seizure|Focal gustatory seizure SNOMEDCT_US:29139005|MSH:D006212|UMLS:C0233766 These seizures involve the parietal operculum and the insula. peter 2011-10-18T02:28:36Z human_phenotype owl:Class HP:0034083 biolink:NamedThing Anti-nucleolus-organizing region antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90. tmpxe7fu0cj_hp_relaxed.owl Anti-Nor90 antibody positivity 2021-12-19 02:32:38+00:00 peter owl:Class UBERON:0005134 biolink:NamedThing metanephric nephron epithelium The metanephric nephron epithelium is a tissue that covers the surface of a nephron in the metanephros[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0002614 biolink:NamedThing Hepatic periportal necrosis A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0546389 human_phenotype owl:Class HP:0002605 biolink:NamedThing Hepatic necrosis The presence of cell death (necrosis) affecting the liver. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:87248009|UMLS:C0151798 peter 2008-02-20T11:32:00Z owl:Class HP:0410035 biolink:NamedThing Abnormal T cell activation Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. tmpxe7fu0cj_hp_relaxed.owl Abnormal T-lymphocyte activation|Abnormal T lymphocyte activation|Abnormal T-cell activation 2017-06-22 19:07:54+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0000607 biolink:NamedThing Periorbital wrinkles tmpxe7fu0cj_hp_relaxed.owl Periorbital rhytids|Wrinkles around the eyes|Periorbital wrinkling|Excess periorbital skin wrinkling UMLS:C1844605 human_phenotype owl:Class HP:0031742 biolink:NamedThing Inferior rectus muscle underaction Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:07:33+00:00 peter owl:Class HP:0012361 biolink:NamedThing Increased fucosylation of O-linked protein glycosylation Increased addition of fucose sugar units to O-linked glycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022930 peter 2013-09-15T10:34:38Z human_phenotype owl:Class HP:0012359 biolink:NamedThing Abnormal fucosylation of O-linked protein glycosylation An anomaly of the addition of fucose sugar units to O-linked glycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022932 peter 2013-09-15T10:31:07Z human_phenotype owl:Class GO:1905517 biolink:NamedThing macrophage migration The orderly movement of a macrophage from one site to another. tmpxe7fu0cj_hp_relaxed.owl sl 2016-09-30T22:17:45Z biological_process owl:Class HP:0033426 biolink:NamedThing Pulmonary air embolism Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation. tmpxe7fu0cj_hp_relaxed.owl Venous air embolism 2021-01-09 17:42:24+00:00 peter owl:Class HP:0002204 biolink:NamedThing Pulmonary embolism An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl Blood clot in artery of lung UMLS:C0034065|SNOMEDCT_US:59282003|MSH:D011655 owl:Class HP:0007440 biolink:NamedThing Generalized hyperpigmentation tmpxe7fu0cj_hp_relaxed.owl Generalised hyperpigmentation UMLS:C4024878 HP:0007540 human_phenotype owl:Class HP:0012325 biolink:NamedThing Chronic myelomonocytic leukemia A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement. tmpxe7fu0cj_hp_relaxed.owl Chronic myelomonocytic leukaemia SNOMEDCT_US:127225006|UMLS:C0023480|SNOMEDCT_US:128831004|MSH:D015477 peter 2013-08-12T06:45:11Z human_phenotype owl:Class HP:0012324 biolink:NamedThing Myeloid leukemia A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow. tmpxe7fu0cj_hp_relaxed.owl Myeloid leukaemia MSH:D007951|SNOMEDCT_US:128934006|SNOMEDCT_US:37810007|SNOMEDCT_US:188732008|UMLS:C0023470 peter 2013-08-12T06:38:18Z human_phenotype owl:Class HP:0002324 biolink:NamedThing Hydranencephaly A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue. tmpxe7fu0cj_hp_relaxed.owl Hydrancephaly UMLS:C0020225|MSH:D006832|SNOMEDCT_US:30023002 human_phenotype owl:Class HP:0002323 biolink:NamedThing Anencephaly Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development. tmpxe7fu0cj_hp_relaxed.owl Foetal anencephaly|Fetal anencephaly|Embryonic anencephaly MSH:D000757|UMLS:C0002902|SNOMEDCT_US:89369001|Fyler:4332 See Figure 3 of PMID:32706613. owl:Class GO:1902865 biolink:NamedThing positive regulation of embryonic camera-type eye development Any process that activates or increases the frequency, rate or extent of embryonic camera-type eye development. tmpxe7fu0cj_hp_relaxed.owl activation of embryonic eye development|up-regulation of embryonic camera-type eye development|upregulation of embryonic eye development|activation of embryonic camera-type eye development|upregulation of embryonic camera-type eye development|up-regulation of embryonic eye development|positive regulation of embryonic eye development|up regulation of embryonic camera-type eye development|up regulation of embryonic eye development mr 2014-04-03T15:24:12Z biological_process owl:Class HP:0100208 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the outermost bone of the little toe|Increased bone density of end part of the outermost bone of the pinky toe|Increased bone density of end part of the outermost bone of the pinkie toe UMLS:C4022213 doelkens 2010-06-24T05:03:31Z human_phenotype owl:Class UBERON:0006916 biolink:NamedThing non-keratinized epithelium of tongue A non-keratinized stratified squamous epithelium that is part of a tongue. tmpxe7fu0cj_hp_relaxed.owl FMA:62130 uberon owl:Class HP:0012048 biolink:NamedThing Oromandibular dystonia A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech. tmpxe7fu0cj_hp_relaxed.owl Cranial dystonia UMLS:C2242577 peter 2012-08-01T12:29:50Z HP:0001494 human_phenotype owl:Class GO:0060042 biolink:NamedThing retina morphogenesis in camera-type eye The process in which the anatomical structure of the retina is generated and organized. tmpxe7fu0cj_hp_relaxed.owl retina morphogenesis in camera-style eye|retinogenesis biological_process owl:Class CHEBI:36043 biolink:NamedThing antimicrobial drug A drug used to treat or prevent microbial infections. tmpxe7fu0cj_hp_relaxed.owl antimicrobial drugs chebi_ontology owl:Class CHEBI:35441 biolink:NamedThing antiinfective agent A substance used in the prophylaxis or therapy of infectious diseases. tmpxe7fu0cj_hp_relaxed.owl antiinfective agents|anti-infective agents|antiinfective drug|anti-infective drugs chebi_ontology owl:Class HP:0025069 biolink:NamedThing Concomitant strabismus Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing. tmpxe7fu0cj_hp_relaxed.owl Comitant strabismus 2016-09-26 10:29:59+00:00 HPO:probinson owl:Class HP:0005419 biolink:NamedThing Decreased T cell activation Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. tmpxe7fu0cj_hp_relaxed.owl Decreased T-lymphocyte activation|Profound depletion of T4+ lymphocytes|Defective T cell activation|Decreased T-cell activation|Decreased T lymphocyte activation UMLS:C1846550 HP:0005436|HP:0005370 human_phenotype owl:Class GO:0034349 biolink:NamedThing glial cell apoptotic process Any apoptotic process in a glial cell, a non-neuronal cell of the nervous system. tmpxe7fu0cj_hp_relaxed.owl programmed cell death, glia|glial cell apoptosis|programmed cell death of glia by apoptosis|glia apoptosis|apoptosis of glial cells|glial cell programmed cell death by apoptosis|apoptosis of glia|programmed cell death, glial cells|glia programmed cell death by apoptosis|programmed cell death of glial cells by apoptosis biological_process owl:Class GO:0090063 biolink:NamedThing positive regulation of microtubule nucleation Any process that increases the rate, frequency or extent of microtubule nucleation. Microtubule nucleation is the 'de novo' formation of a microtubule, in which tubulin heterodimers form metastable oligomeric aggregates, some of which go on to support formation of a complete microtubule. Microtubule nucleation usually occurs from a specific site within a cell. tmpxe7fu0cj_hp_relaxed.owl tb 2009-08-12T11:33:09Z biological_process owl:Class HP:0002637 biolink:NamedThing Cerebral ischemia tmpxe7fu0cj_hp_relaxed.owl Brain ischemia|Cerebrovascular ischemia|Disruption of blood oxygen supply to brain UMLS:C0917798|SNOMEDCT_US:287731003|UMLS:C0007786|SNOMEDCT_US:389100007|MSH:D002545 owl:Class UBERON:0000965 biolink:NamedThing lens of camera-type eye Transparent part of camera-type eye that helps to refract light to be focused on the retina. tmpxe7fu0cj_hp_relaxed.owl ocular lens|eye lens|lens crystallina|lenses|crystalline lens|camera-type eye lens|lens FMA:58241|OpenCyc:Mx4rvVj0fZwpEbGdrcN5Y29ycA|MAT:0000141|VHOG:0000169|AAO:0010348|MESH:A09.371.509|UMLS:C0023317|EV:0100343|TAO:0000035|CALOHA:TS-0545|NCIT:C12743|SCTID:181169005|Wikipedia:Lens_(anatomy)|BTO:0000723|ZFA:0000035|XAO:0000008|MIAA:0000141|MA:0000275|EHDAA:9057|EMAPA:17838|RETIRED_EHDAA2:0000975 The lens is avascular and nourished by diffusion from the aqueous and vitreous uberon owl:Class The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG] This class excludes compound eye corneal lenses. UBERON:0004505 biolink:NamedThing skeletal muscle tissue of orbicularis oculi A portion of skeletal muscle tissue that is part of a orbicularis oculi [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:261812 uberon owl:Class GO:0009612 biolink:NamedThing response to mechanical stimulus tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0003069 biolink:NamedThing otic placode A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK]. tmpxe7fu0cj_hp_relaxed.owl octaval placode|placoda otica|octaval VIII placode|ear/otic placode|ear placode|auditory placode EMAPA:16195|XAO:0000223|UMLS:C1518677|EFO:0003429|EHDAA2:0001339|EHDAA:506|AAO:0011079|TAO:0000138|FMA:293973|ZFA:0000138|VHOG:0000235|NCIT:C34239 uberon owl:Class Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the midsegmentation period. Kimmel et al, 1995. (Also see Anatomical Atlas entry for ear by T. Whitfield.)[TAO] We conclude this section by listing some of the many synapomorphies of craniates, including (...) (2) neurogenic placodes (...).[well established][VHOG] With the exception of the pigment cells of the stria vascularis and the secretory epithelium of the cochlea, which are of neural crest origin, all compo- nents of the inner ear derive from the otic placode. In most species the thickening of the ectoderm into a placode occurs in a region adjacent to rhombomere 5 (reviewed in Ohyama et al., 2007), while in amphibians the otic placode is centered onto rhombomere 4 (Ruiz i Altaba and Jessell, 1991). UBERON:0003067 biolink:NamedThing dorsolateral placode Lateral neurogenic placodes positioned dorsal of the epibranchial placodes. tmpxe7fu0cj_hp_relaxed.owl dorsolateral placodes XAO:0000187|ZFA:0001310|VHOG:0000103|TAO:0001310 The only remaining dorsolateral placode in land vertebrates is the otic/octaval placode uberon owl:Class In summary, the collective term 'placodes' refers to some rather different structures, probably with different evolutionary origins. Some sensory placodes (at least the otic and olfactory) may have homologues in basal chordates. Even if this is so, it is apparent that they were elaborated considerably during early vertebrate evolution. Epibranchial and dorsolateral placodes appear to be new; we infer that their origin depended on the evolution of specific inductive signals.[well established][VHOG] CHEBI:32695 biolink:NamedThing argininate tmpxe7fu0cj_hp_relaxed.owl arg(-)|2-amino-5-guanidinopentanoate|argininate|2-amino-5-(carbamimidamido)pentanoate|arginine anion -1 C6H13N4O2 InChI=1S/C6H14N4O2/c7-4(5(11)12)2-1-3-10-6(8)9/h4H,1-3,7H2,(H,11,12)(H4,8,9,10)/p-1 ODKSFYDXXFIFQN-UHFFFAOYSA-M 173.19318 173.10440 NC(CCCNC(N)=N)C([O-])=O Gmelin:603497 chebi_ontology owl:Class CL:0002312 biolink:NamedThing somatotroph An acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin. tmpxe7fu0cj_hp_relaxed.owl somatrophic cell|somatotrope|somatotropic cell FMA:83095 tmeehan 2010-09-14T02:33:09Z cell owl:Class CL:0000638 biolink:NamedThing acidophil cell of pars distalis of adenohypophysis An acidophilic chromophil cell that of the anterior pituitary gland. tmpxe7fu0cj_hp_relaxed.owl acidophil of pars anterior of adenohypophysis|acidophil of pars distalis of adenohypophysis|acidophil cell of pars anterior of adenohypophysis|pituitary alpha cell FMA:83093 cell owl:Class HP:0031780 biolink:NamedThing Eosinophilic ascites A type of ascites in which there are large numbers of eosinophils in the ascitis fluid. tmpxe7fu0cj_hp_relaxed.owl 2018-01-27 12:22:52+00:00 peter owl:Class UBERON:0010680 biolink:NamedThing pedal digit 1 phalanx cartilage element A cartilage element that is part of a pedal digit 1 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl hind limb digit 1 phalanx cartilage condensation|foot digit 1 phalanx cartilage element|pedal digit I phalanx cartilage element EMAPA:18107 uberon owl:Class UBERON:0015031 biolink:NamedThing pedal digit 1 phalanx endochondral element A pedal digit 1 phalanx bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl pedal digit 1 phalanx skeletal element|pedal digit I phalanx endochondral element|pedal digit 1 phalanx element uberon owl:Class HP:0010609 biolink:NamedThing Skin tags Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. tmpxe7fu0cj_hp_relaxed.owl Acrochorda SNOMEDCT_US:80801001|SNOMEDCT_US:201091002|UMLS:C0037293|SNOMEDCT_US:31069005 sandra1 2009-10-27T11:41:03Z human_phenotype owl:Class HP:0012477 biolink:NamedThing Vocal tremor A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability. tmpxe7fu0cj_hp_relaxed.owl Vocal tremor|Shakey voice UMLS:C4022889 peter 2013-11-28T07:11:37Z human_phenotype owl:Class HP:0040139 biolink:NamedThing Lipogranulomatosis Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:416439000|UMLS:C1704214|SNOMEDCT_US:189099001|SNOMEDCT_US:36279001 Usually caused by a faulty lipid metabolism HPO:skoehler owl:Class HP:0004356 biolink:NamedThing Abnormality of lysosomal metabolism tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025342 A major lysosomal function is the breakdown and recycling of macromolecules and organelles into basic precursors. peter 2008-03-17T02:40:00Z human_phenotype owl:Class PATO:0000389 biolink:NamedThing acute A quality of a process inhering in a bearer by virtue of the bearer's having a sudden onset, sharp rise, and short course. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0001309 biolink:NamedThing duration A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point. tmpxe7fu0cj_hp_relaxed.owl time|period PATO:0000081 quality owl:Class GO:0002582 biolink:NamedThing positive regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. tmpxe7fu0cj_hp_relaxed.owl positive regulation of peptide or polysaccharide antigen processing and presentation via MHC class II|up-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|upregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|activation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|stimulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|up regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II biological_process owl:Class GO:0098906 biolink:NamedThing regulation of Purkinje myocyte action potential Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in a Purkinje myocyte. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpxe7fu0cj_hp_relaxed.owl tb 2011-11-10T08:58:56Z biological_process owl:Class HP:0000075 biolink:NamedThing Renal duplication A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. tmpxe7fu0cj_hp_relaxed.owl Supernumerary kidney|Extra kidney SNOMEDCT_US:30275001|UMLS:C0266298 peter 2008-02-25T12:45:00Z human_phenotype owl:Class HP:0031253 biolink:NamedThing Anomalous origin of left subclavian artery Origin of the left subclavian artery from an anomalous anatomical location. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 15:41:19+00:00 peter owl:Class HP:0031251 biolink:NamedThing Abnormal subclavian artery morphology Any anomaly of a subclavian artery. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 15:35:44+00:00 The left and right subclavian arteries supply blood to the posterior cerebral circulation, cerebellum, posterior neck, upper limbs and the superior and anterior chest wall. The right subclavian artery is a terminal branch of the brachiocephalic artery,and the left subclavian artery is the third branch of the aortic arch (following the left common carotid artery). peter owl:Class CHEBI:52211 biolink:NamedThing physiological role tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class GO:0051176 biolink:NamedThing positive regulation of sulfur metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur. tmpxe7fu0cj_hp_relaxed.owl upregulation of sulfur metabolic process|positive regulation of sulphur metabolic process|up-regulation of sulfur metabolic process|activation of sulfur metabolic process|positive regulation of sulphur metabolism|stimulation of sulfur metabolic process|positive regulation of sulfur metabolism|up regulation of sulfur metabolic process biological_process owl:Class GO:0042762 biolink:NamedThing regulation of sulfur metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur, the nonmetallic element sulfur or compounds that contain sulfur. tmpxe7fu0cj_hp_relaxed.owl regulation of sulfur metabolism|regulation of sulphur metabolism|regulation of sulphur metabolic process biological_process owl:Class UBERON:0001956 biolink:NamedThing cartilage of bronchus The hyaline cartilaginous structures that support the bronchi, present as irregular rings in the larger bronchi (and not as regular as in the trachea), and as small plates and islands in the smaller bronchi; as the branching continues through the bronchial tree, the amount of hyaline cartilage in the walls decreases until it is absent in the smallest bronchioles[MP]. tmpxe7fu0cj_hp_relaxed.owl bronchus cartilage|cartilage of bronchi|bronchi cartilage|bronchial cartilage ring|bronchial trunk cartilage|bronchial cartilage|cartilagines bronchiales|cartilage of bronchial trunk EMAPA:35192|UMLS:C0225604|NCIT:C49209|MA:0001835|FMA:62649 uberon owl:Class UBERON:0010578 biolink:NamedThing manual digit 4 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit 4 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl fore limb digit 4 phalanx pre-cartilage condensation|manual digit IV phalanx pre-cartilage condensation|hand digit 4 phalanx pre-cartilage condensation EHDAA2:0000534|EMAPA:17721 uberon owl:Class HP:0003819 biolink:NamedThing Death in childhood Death in during childhood, defined here as between the ages of 2 and 10 years. tmpxe7fu0cj_hp_relaxed.owl Death in childhood UMLS:C1843392 previous def was: 'has part' some (premature and ('inheres in' some death) and ('has modifier' some abnormal)) HP:0004149|HP:0001432 owl:Class GO:0051606 biolink:NamedThing detection of stimulus The series of events in which a stimulus is received by a cell or organism and converted into a molecular signal. tmpxe7fu0cj_hp_relaxed.owl stimulus sensing|perception of stimulus|stimulus detection biological_process owl:Class HP:3000059 biolink:NamedThing Abnormal inferior thyroid vein morphology An abnormality of an inferior thyroid vein. tmpxe7fu0cj_hp_relaxed.owl Abnormality of inferior thyroid vein UMLS:C4073267 vasilevs 2015-08-07T03:18:48Z human_phenotype owl:Class UBERON:0004909 biolink:NamedThing epithelium of gonad An epithelium surrounding a gonad. tmpxe7fu0cj_hp_relaxed.owl gonadal sheath|gonad epithelium|gonadal epithelium EHDAA:5931|FBbt:00004859|EHDAA:4032|NCIT:C32676|UMLS:C1517534 after reasoning this should subsume the more specific germinal epithelium classes. We include the fly structure here although it is not clear if the sheath is an epithelium or a multi-tissue structure that includes epithelium as parts uberon owl:Class HP:0100631 biolink:NamedThing Neoplasm of the adrenal gland A tumor (abnormal growth of tissue) of the adrenal gland. tmpxe7fu0cj_hp_relaxed.owl Adrenal neoplasia SNOMEDCT_US:127021009|NCIT:C3262|UMLS:C0001624|MSH:D000310 doelkens 2010-12-29T02:27:47Z owl:Class HP:3000055 biolink:NamedThing Abnormality of inferior alveolar nerve An abnormality of an inferior alveolar nerve. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073263 vasilevs 2015-08-07T01:10:08Z human_phenotype owl:Class HP:0012688 biolink:NamedThing Abnormality of pineal physiology A functional abnormality of the pineal gland. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022778 peter 2014-03-22T01:15:36Z human_phenotype owl:Class HP:0030953 biolink:NamedThing Conjunctival hyperemia Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera. tmpxe7fu0cj_hp_relaxed.owl Conjunctival hyperaemia|Conjunctival injection|Conjunctival vascular congestion 2017-01-13 22:41:03+00:00 robinp owl:Class HP:0030894 biolink:NamedThing Insufficient response to short acting pulmonary vasodilator No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0007250 biolink:NamedThing lingual tonsil The lymph tissue on the floor of the oropharyngeal passage, near the root of the tongue. tmpxe7fu0cj_hp_relaxed.owl tonsilla lingualis|lingual tonsillar tissue NCIT:C32988|MA:0000773|UMLS:C0229871|FMA:54836 Illu04:tongue.jpg uberon owl:Class UBERON:0002372 biolink:NamedThing tonsil Either of the two small almond-shaped masses of lymph tissue found on either side of the oropharynx. tmpxe7fu0cj_hp_relaxed.owl Mandel VHOG:0001139|MA:0000143|BTO:0001387|EFO:0001401|EMAPA:35871|UMLS:C1519548|OpenCyc:Mx4rvVivrZwpEbGdrcN5Y29ycA|NCIT:C12802|EV:0100052|UMLS:C1519547|MESH:A03.867.603.925|UMLS:C0836921|FMA:9609|CALOHA:TS-1053|GAID:341 the term 'tonsil' can be ambiguous, sometimes refering specifically to the palatine tonsil, sometimes generically to include the cecal tonsils of avians. This class represents lymphoid tissue that is part of the tonsillar ring, in the mouth/throat region uberon owl:Class HP:0032691 biolink:NamedThing Focal cognitive seizure with dyscalculia/acalculia A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl Dyscalculia / acalculia is difficulty completing or understanding mathematical calculation. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. peter owl:Class UBERON:0002406 biolink:NamedThing pericardial sac A double-walled sac containing the heart and the roots of the great vessels. tmpxe7fu0cj_hp_relaxed.owl pericardium RETIRED_EHDAA2:0001443|TAO:0000054|FMA:9868|SCTID:361326002 http://upload.wikimedia.org/wikipedia/commons/7/7e/Gray489.png uberon owl:Class UBERON:0005906 biolink:NamedThing serous sac Organ with organ cavity, which has as parts a serous membrane and a serous cavity . Examples: pleural sac, pericardial sac, tendon sheath, bursa.[FMA]. tmpxe7fu0cj_hp_relaxed.owl MA:0000005|EMAPA:16060|FMA:9689|SCTID:362890006 See notes for serous membrane uberon owl:Class GO:0006566 biolink:NamedThing threonine metabolic process The chemical reactions and pathways involving threonine (2-amino-3-hydroxybutyric acid), a polar, uncharged, essential amino acid found in peptide linkage in proteins. tmpxe7fu0cj_hp_relaxed.owl threonine metabolism|methionine and threonine metabolism|methionine and threonine metabolic process UM-BBD_pathwayID:met biological_process owl:Class HP:0100490 biolink:NamedThing Camptodactyly of finger The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. tmpxe7fu0cj_hp_relaxed.owl Camptodactyly of hands|Proximal interphalangeal finger joint contractures|Contractures of the proximal interphalangeal joints of the fingers|Camptodactyly of proximal interphalangeal joint|Flexion contractures of proximal interphalangeal joints|Permanent flexion of the finger UMLS:C0409348|SNOMEDCT_US:202281000 Note that some restrict the use of the term to inability to extend the proximal interphalangeal joint of the fifth finger. We do not restrict the term in this way. This term should not be used if the patient has Clenched hand. A similar effect can be created by radial angulation within the distal phalanx with thickening of the epiphysis, which is called Kirner deformity or dystelephalangy. The affected digits should be specified. doelkens 2010-12-14T10:46:57Z HP:0006195|HP:0005821|HP:0005713|HP:0005651|HP:0006218|HP:0009698|HP:0005662|HP:0006240|HP:0005801 human_phenotype owl:Class HP:0012385 biolink:NamedThing Camptodactyly The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. tmpxe7fu0cj_hp_relaxed.owl Permanent flexion of the finger or toe SNOMEDCT_US:29271008|UMLS:C0685409 hecht 2013-10-20T08:08:19Z human_phenotype owl:Class HP:0005511 biolink:NamedThing Heinz body anemia Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. tmpxe7fu0cj_hp_relaxed.owl Heinz body anaemia UMLS:C0700299|MSH:C563030 human_phenotype owl:Class CHEBI:38808 biolink:NamedThing calcium channel modulator A membrane transport modulator that is able to regulate intracellular calcium levels. tmpxe7fu0cj_hp_relaxed.owl calcium channel modulators chebi_ontology owl:Class CHEBI:38632 biolink:NamedThing membrane transport modulator Any agent that affects the transport of molecular entities across a biological membrane. tmpxe7fu0cj_hp_relaxed.owl membrane transport modulators chebi_ontology owl:Class GO:0090068 biolink:NamedThing positive regulation of cell cycle process Any process that increases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. tmpxe7fu0cj_hp_relaxed.owl tb 2009-09-09T11:39:52Z biological_process owl:Class HP:0009438 biolink:NamedThing Absent middle phalanx of 3rd finger Absence of the middle phalanx of the middle (3rd) finger. tmpxe7fu0cj_hp_relaxed.owl Absent middle bone of middle finger|Absent middle phalanx of middle finger|Aplasia of the middle phalanx of the 3rd finger UMLS:C4021475 doelkens 2009-01-14T03:45:02Z HP:0004173 human_phenotype owl:Class HP:0001022 biolink:NamedThing Albinism An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). tmpxe7fu0cj_hp_relaxed.owl Achromasia|Albinism SNOMEDCT_US:15890002|UMLS:C0333913|SNOMEDCT_US:18064000|MSH:D000417|UMLS:C0001916 human_phenotype owl:Class UBERON:0005043 biolink:NamedThing mucosa of nasolacrimal duct A mucosa that is part of a nasolacrimal duct [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nasolacrimal duct mucosa|mucous membrane of nasolacrimal duct|nasolacrimal duct mucous membrane|organ mucosa of nasolacrimal duct|nasolacrimal ductal mucosa|mucosa of organ of nasolacrimal duct|nasolacrimal duct organ mucosa|nasolacrimal duct mucosa of organ FMA:59664 uberon owl:Class HP:0003725 biolink:NamedThing Firm muscles tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850656 human_phenotype owl:Class UBERON:0007779 biolink:NamedThing transudate Any bodily fluid that has passed through a membrane such as the capillary wall, as a result of unbalanced hydrostatic and osmotic forces. tmpxe7fu0cj_hp_relaxed.owl plasma ultrafiltrate MESH:D005122|ncithesaurus:Transudate|GAID:1195|FMA:12276 uberon owl:Class transudative characteristically low in protein and cellular content (unless there has been secondary concentration) HP:0012854 biolink:NamedThing Midshaft hypospadias Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022708 hecht 2014-06-08T10:57:24Z human_phenotype owl:Class UBERON:0001017 biolink:NamedThing central nervous system The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the neural tube derivatives: the brain and spinal cord. In invertebrates it includes central ganglia plus nerve cord. tmpxe7fu0cj_hp_relaxed.owl cerebrospinal axis|neuraxis|systema nervosum centrale|CNS XAO:0000215|FMA:55675|EV:0100163|BIRNLEX:1099|CALOHA:TS-0150|EMAPA:16754|VHOG:0000293|MA:0000167|EHDAA2:0000225|MESH:D002490|OpenCyc:Mx4rvzYt3pwpEbGdrcN5Y29ycA|MAT:0000457|ZFA:0000012|FBbt:00005094|EMAPA:16470|GAID:570|BAMS:CNS|UMLS:C0927232|TAO:0000012|BTO:0000227|AAO:0000090|BILA:0000080|EFO:0000908|Wikipedia:Central_nervous_system|EHDAA:828|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=854|SCTID:278199004|NCIT:C12438 uberon owl:Class The central nervous system (CNS) is the part of the nervous system which includes the brain, spinal cord, and nerve cell layer of the retina (CUMBO).|Part of the nervous system which includes the brain and spinal cord.[AAO]|The brain and spinal cord. Kimmel et al, 1995.[TAO] (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2); Taken together, our data make a very strong case that the complex molecular mediolateral architecture of the developing trunk CNS (central nervous system), as shared between Platynereis and vertebrates, was already present in their last common ancestor, Urbilateria. The concept of bilaterian nervous system centralization implies that neuron types concentrate on one side of the trunk, as is the case in vertebrates and many invertebrates including Platynereis, where they segregate and become spatially organized (as opposed to a diffuse nerve net). Our data reveal that a large part of the spatial organization of the annelid and vertebrate CNS was already present in their last common ancestor, which implies that Urbilateria had already possessed a CNS (reference 3).[well established][VHOG] GO:0003416 biolink:NamedThing endochondral bone growth The increase in size or mass of an endochondral bone that contributes to the shaping of the bone. tmpxe7fu0cj_hp_relaxed.owl dph 2009-12-22T08:52:55Z biological_process owl:Class HP:0004826 biolink:NamedThing Folate-unresponsive megaloblastic anemia A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia. tmpxe7fu0cj_hp_relaxed.owl Folate-unresponsive megaloblastic anaemia UMLS:C4025287 human_phenotype owl:Class HP:0001889 biolink:NamedThing Megaloblastic anemia Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). tmpxe7fu0cj_hp_relaxed.owl Megaloblastic anaemia MSH:D000749|SNOMEDCT_US:53165003|UMLS:C0002888 Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis. HP:0004858 human_phenotype owl:Class HP:4000053 biolink:NamedThing Displaced fracture A type of fracture in which the ends of the fractured bone are no longer aligned. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 20:58:15+00:00 robinp owl:Class GO:0042489 biolink:NamedThing negative regulation of odontogenesis of dentin-containing tooth Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx. tmpxe7fu0cj_hp_relaxed.owl negative regulation of odontogenesis|down regulation of odontogenesis|negative regulation of odontogenesis of dentine-containing tooth|downregulation of odontogenesis|inhibition of odontogenesis|down-regulation of odontogenesis|negative regulation of odontogenesis of dentine-containing teeth biological_process owl:Class CL:0000514 biolink:NamedThing smooth muscle myoblast A precursor cell destined to differentiate into smooth muscle myocytes. tmpxe7fu0cj_hp_relaxed.owl satellite cell|myoblast, smooth muscle FMA:84798 cell owl:Class HP:0012367 biolink:NamedThing Extra fontanelles Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022927 Extra fontanelles include glabellar, metopic, sagittal (parietal) and cerebellar fontanelles. peter 2013-10-13T12:27:03Z human_phenotype owl:Class GO:0003105 biolink:NamedThing negative regulation of glomerular filtration tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0030479 biolink:NamedThing Abnormal amplitude of light-adapted flicker electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072969 owl:Class HP:0030473 biolink:NamedThing Abnormal light-adapted flicker electroretinogram tmpxe7fu0cj_hp_relaxed.owl Abnormal light-adapted 30Hz flicker electroretinogram|Abnormal light-adapted flicker ERG|Abnormal light-adapted 30Hz flicker ERG|Abnormal light-adapted flicker electroretinogram UMLS:C4072963 owl:Class UBERON:0007182 biolink:NamedThing muscle layer of infundibulum of uterine tube A muscle layer that is part of a uterine tube infundibulum. tmpxe7fu0cj_hp_relaxed.owl muscle layer of infundibulum of oviduct|muscularis of infundibulum of uterine tube|muscle layer of infundibulum of fallopian tube EMAPA:31264|FMA:18336 uberon owl:Class HP:0033506 biolink:NamedThing Increased esterified to free carnitine ratio An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 15:13:06+00:00 peter owl:Class HP:0033502 biolink:NamedThing Abnormal esterified to free carnitine ratio Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 15:09:58+00:00 Carnitine is a nutrient that is made from the amino acids methionine and lysine. Its primary role is to allow the transport of long-chain fatty acids into the mitochondrial matrix for beta-oxidation and energy production. Carnitine is stored in the skeletal muscle, heart, liver, brain, and kidney and within plasma. Carnitine is also found in the body in several different forms. peter owl:Class GO:2000176 biolink:NamedThing positive regulation of pro-T cell differentiation Any process that activates or increases the frequency, rate or extent of pro-T cell differentiation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of pro-T lymphocyte differentiation mah 2010-10-11T10:24:35Z biological_process owl:Class GO:2000174 biolink:NamedThing regulation of pro-T cell differentiation Any process that modulates the frequency, rate or extent of pro-T cell differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of pro-T lymphocyte differentiation mah 2010-10-11T10:24:30Z biological_process owl:Class HP:0001161 biolink:NamedThing Hand polydactyly A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. tmpxe7fu0cj_hp_relaxed.owl Polydactyly of the hand|Supernumerary finger|Extra finger|Finger polydactyly MEDDRA:10036064|SNOMEDCT_US:81793007|UMLS:C0158733 human_phenotype owl:Class HP:0032774 biolink:NamedThing Focal impaired awareness autonomic seizure with urge to urinate/defecate A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0012371 biolink:NamedThing Hyperplasia of midface Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face tmpxe7fu0cj_hp_relaxed.owl Midface hyperplasia|Overgrowth of the midface|Hypertrophy of midface|Midfacial excess|Large midface|Big midface|Midfacial prominence UMLS:C0240309 This term represents increased size of the maxilla (upper jaw) in length (increased midface height) or anterior-posterior projection (midface prominence). In the presence of normal mandible size, maxillary prominence may give the appearance of retrognathia. peter 2013-10-13T02:55:54Z HP:0010279 human_phenotype owl:Class CHEBI:62941 biolink:NamedThing glycosylceramide tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:24402 biolink:NamedThing glycosphingolipid A glycosphingolipid is a glycolipid that is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid. tmpxe7fu0cj_hp_relaxed.owl glycosphingolipids PMID:19303901|PMID:18845618|Wikipedia:Glycosphingolipid|PMID:26976737|PMID:27253729|PMID:26954668|PMID:27325407 CHEBI:5498 chebi_ontology owl:Class GO:0015931 biolink:NamedThing nucleobase-containing compound transport The directed movement of nucleobases, nucleosides, nucleotides and nucleic acids, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl nucleobase, nucleoside, nucleotide and nucleic acid transport biological_process owl:Class HP:0033349 biolink:NamedThing Seizure cluster A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient. tmpxe7fu0cj_hp_relaxed.owl Seizure flurries|Serial seizures|Acute repetitive seizures|Recurrent seizures|Crescendo seizures|Cyclical seizures 2020-11-30 22:08:36+00:00 This term should be used with an HPO term for the appropriate type of seizure to denote clustered occurence of seizures. There is no consensus within the medical community regarding the definition of a seizure cluster, where limitations of current clinical definitions include poor sensitivity and specificity. The proposed definition is meant to serve as a placeholder until a more robust definition, likely facilitated by technological advances in seizure tracking devices and personalised cluster identification is agreed upon. peter owl:Class HP:0031796 biolink:NamedThing Recurrent Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present. tmpxe7fu0cj_hp_relaxed.owl Intermittent 2018-02-25 14:40:47+00:00 peter owl:Class HP:0032743 biolink:NamedThing Focal aware emotional seizure with crying Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0009611 biolink:NamedThing Bifid distal phalanx of the thumb Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. tmpxe7fu0cj_hp_relaxed.owl Bifid thumb distal phalanx|Notched outermost bone of the thumb|Bifid distal phalanx of thumb|Incipient distal thumb phalanx duplication|Notched outermost bone of thumb|Notched terminal thumb phalanx|Bifid terminal phalanges of thumbs UMLS:C1860162 Note that with bifid distal phalanx, the terminal phalanx of the thumb is clefted but is still one bone. With duplication of the terminal phalanx of the thumb, the distal phalanx is split into two bones that are located side by side. With triphalangeal thumb, the thumb has three phalanxes located one after the other. doelkens 2009-01-29T03:48:49Z HP:0006090|HP:0005827|HP:0005848|HP:0005703|HP:0004086 human_phenotype owl:Class HP:0010004 biolink:NamedThing Partial duplication of the distal phalanges of the hand A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. tmpxe7fu0cj_hp_relaxed.owl Bifid terminal phalanges of the hand|Partial duplication of the outermost bone of the hand UMLS:C4021348 doelkens 2009-05-26T03:55:29Z HP:0006196 human_phenotype owl:Class UBERON:0003604 biolink:NamedThing trachea cartilage The ring-shaped cartilaginous structures that support the trachea. tmpxe7fu0cj_hp_relaxed.owl cartilage of the trachea|cartilaginous ring of trachea|cartilago trachealis|tracheal cartilage|cartilage of trachea|ring of the trachea|cartilagines tracheales|trachea ring|windpipe cartilage|cartilage of windpipe|tracheal ring|cartilaginous trachea cartilage FMA:7434|UMLS:C1710456|EMAPA:35875|MA:0001857|EMAPA:18699|NCIT:C49304 http://upload.wikimedia.org/wikipedia/commons/5/56/Gray952.png check whether to classify as part of splanchoncranium uberon owl:Class in mammals the rings are incomplete, in avians the rings are complete. GO:1903351 biolink:NamedThing cellular response to dopamine Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dopamine stimulus. tmpxe7fu0cj_hp_relaxed.owl mr 2014-08-19T19:33:35Z biological_process owl:Class GO:1905673 biolink:NamedThing positive regulation of lysosome organization Any process that activates or increases the frequency, rate or extent of lysosome organization. tmpxe7fu0cj_hp_relaxed.owl up regulation of lysosome organization|upregulation of lysosome organization and biogenesis|up regulation of lysosome organization and biogenesis|upregulation of lysosome organization|positive regulation of lysosome organisation|up-regulation of lysosome organisation|upregulation of lysosome organisation|activation of lysosome organization|activation of lysosome organization and biogenesis|up regulation of lysosome organisation|up-regulation of lysosome organization and biogenesis|up-regulation of lysosome organization|activation of lysosome organisation|positive regulation of lysosome organization and biogenesis sl 2016-11-11T22:01:20Z biological_process owl:Class GO:0044090 biolink:NamedThing positive regulation of vacuole organization Any process that activates or increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a vacuole. tmpxe7fu0cj_hp_relaxed.owl positive regulation of vacuole biogenesis|positive regulation of vacuole organisation biological_process owl:Class PATO:0040043 biolink:NamedThing increased proportionality to A proportionality quality inhering in a bearer by virtue of the bearer's increased magnitude in respect to a related entity. tmpxe7fu0cj_hp_relaxed.owl increased proportion|increased quotient|increased ratio|increased proportionality Example: increased proportion of CD4 T cells relative to total T cells. quality owl:Class PATO:0001470 biolink:NamedThing proportionality to A quality inhering in a bearer by virtue of the bearer's magnitude in respect to a related entity. tmpxe7fu0cj_hp_relaxed.owl proportionality|ratio|quotient|rate|proportion Examples: height to weight; brain size to body size. These could all be children of proportionality. Proportions can be measured as ratios. Some measures may be dimensionless. Not all ratios measure proportionality, eg m/s measures velocity which is not a proportion in the sense defined above, it is a quality in its own right. quality owl:Class HP:0004000 biolink:NamedThing Cone-shaped distal radial epiphysis The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance. tmpxe7fu0cj_hp_relaxed.owl Chevron-shaped distal radial epiphysis UMLS:C4025457 The phrase chevron-shaped (having the shape of a V or an inverted V) is synonymous. HP:0003975 human_phenotype owl:Class HP:0010579 biolink:NamedThing Cone-shaped epiphysis Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of bone|Cone-shaped epiphyses UMLS:C1865037 sandra1 2009-10-22T02:53:19Z HP:0006078|HP:0000937 human_phenotype owl:Class HP:0009681 biolink:NamedThing Ivory epiphysis of the distal phalanx of the thumb Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the outermost bone of the thumb UMLS:C4024238 doelkens 2009-01-30T09:18:09Z human_phenotype owl:Class CHEBI:4439 biolink:NamedThing dermatan A mucopolysaccharide consisting of repeating beta-(1->4)-linked L-iduronyl-(alpha1->3)-N-acetyl-D-galactosamine units. tmpxe7fu0cj_hp_relaxed.owl Dermatan L-iduronate|Dermatan 0 (C14H21NO11)n KEGG:C01490 chebi_ontology owl:Class CHEBI:37395 biolink:NamedThing mucopolysaccharide Any of the group of polysaccharides composed of alternating units from uronic acids and glycosamines, and commonly partially esterified with sulfuric acid. tmpxe7fu0cj_hp_relaxed.owl Mucopolysaccharide|mucopolysaccharides|mucopolisacaridos|mucopolisacarido|Mucopolysaccharid|Mukopolysaccharid KEGG:C05114 CHEBI:25425|CHEBI:7011 chebi_ontology owl:Class HP:0008111 biolink:NamedThing Broad distal hallux tmpxe7fu0cj_hp_relaxed.owl Broad distal big toe UMLS:C1863403 human_phenotype owl:Class HP:0010055 biolink:NamedThing Broad hallux Visible increase in width of the hallux without an increase in the dorso-ventral dimension. tmpxe7fu0cj_hp_relaxed.owl Broad great toe|Broad big toe|Broad halluces|Wide big toe|Abnormally broad great toes|Broad great toes UMLS:C1867131 Note that girth may be increased in a broad hallux, but this must be distinguished from Macrodactyly because there the length is also increased. This assessment may be difficult when the hallux is short. doelkens 2009-05-29T11:56:24Z HP:0004710|HP:0005883|HP:0003094|HP:0001834 human_phenotype owl:Class HP:0030987 biolink:NamedThing Suppurative cholangitis Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess). tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 13:33:51+00:00 A microbial infection is often for suppurative cholangitis, but the change also occurs in the presence of sterile bile, particularly after bile extravasation. The release of chemokines or cytokines is the likely cause in some cases. peter owl:Class HP:0030151 biolink:NamedThing Cholangitis Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. tmpxe7fu0cj_hp_relaxed.owl Bile duct inflammation UMLS:C0008311|SNOMEDCT_US:82403002|MSH:D002761 Cholangitis is characterized by biliary epithelial damage with inflammatory cell infiltration. Some cholangitis is also associated with ductal and periductal fibrosis. owl:Class CHEBI:18140 biolink:NamedThing hydrogen halide tmpxe7fu0cj_hp_relaxed.owl hydrogen halides|HX|hydrogen halide 0 HX 1.008 1.00783 [F,Cl,Br,I] CHEBI:13368|CHEBI:5599|CHEBI:37140 chebi_ontology owl:Class HP:0008843 biolink:NamedThing Hip osteoarthritis tmpxe7fu0cj_hp_relaxed.owl Osteoarthritis of hip MSH:D015207|SNOMEDCT_US:239872002|UMLS:C0029410 HP:0008809 human_phenotype owl:Class HP:0009341 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 3rd finger Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the outermost middle finger bone UMLS:C4024426 doelkens 2009-01-12T11:18:33Z human_phenotype owl:Class GO:0043184 biolink:NamedThing vascular endothelial growth factor receptor 2 binding Binding to a vascular endothelial growth factor receptor 2. tmpxe7fu0cj_hp_relaxed.owl KDR binding|VEGFR 2 binding|Flk-1 binding|kinase domain region binding|VEGF receptor 2 binding molecular_function owl:Class HP:0001374 biolink:NamedThing Congenital hip dislocation tmpxe7fu0cj_hp_relaxed.owl Congenital dislocation of the hips|Dislocated hip since birth|Congenital dislocation of the hip|Congenital hip dislocations|Congenital hip anomaly MSH:D006618|UMLS:C0019555|SNOMEDCT_US:52781008|SNOMEDCT_US:48334007 human_phenotype owl:Class GO:0030705 biolink:NamedThing cytoskeleton-dependent intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0003107 biolink:NamedThing Meckel's cartilage Meckel's cartilage is the bilaterally paired, rod-like, cartilaginous ventral component of the lower jar, or ventral mandibular arch. It is typically resorbed in adults. tmpxe7fu0cj_hp_relaxed.owl ventral mandibular cartilage|Meckels cartilage|cartilago arcus pharyngei primi|primary mandinle TAO:0001205|AAO:0000289|ZFA:0001205|VHOG:0000249|EMAPA:17635|FMA:295784|MA:0001580|EHDAA2:0001072|EHDAA:7997|XAO:0003085 uberon owl:Class Paired, rod-shaped elements that extend the length of the mandible and lie between the dentaries and the angulosplenials. Can be reduced to various extent in adults.[AAO]|Pharyngeal arch cartilage that is the cartilaginous embryonic component of the lower jaw, or ventral mandibular arch. It develops into the endochondral articular and retroarticular bones. Meckel's cartilage is paired.[TAO] In all jawed vertebrates, including fish, the first pharyngeal arch generates the jaw apparatus. The neural crest cells of this arch migrate to form Meckel's cartilage, the precursor of the jaw.[well established][VHOG] functional lower jaw of Elasmobranchii and Holocephali, the embryonic lower jaw of other gnathostomous vertebrates HP:0032047 biolink:NamedThing Focal cortical dysplasia type I A type of focal cortical dysplasia that is characterized by abnormal cortical layering. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 11:00:11+00:00 peter owl:Class HP:0020135 biolink:NamedThing Myofibromatosis A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-05 17:28:59+00:00 owl:Class HP:0025518 biolink:NamedThing Visual gaze preference An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion. tmpxe7fu0cj_hp_relaxed.owl 2017-05-17 01:15:33+00:00 With visual gaze preference due to an acute supranuclear cerebral lesion, the oculocephalic reflex (which can be elicited by the so called Doll's head manoeuvre) is intact. The head is briskly turned from side to side with the head held briefly at the end of each turn. If the brainstem and infranuclear pathways are intact, then the eyes rotate to the opposite side to the direction of head rotation. Stroke is the most common etiology of this finding. HPO:probinson owl:Class CHEBI:32697 biolink:NamedThing argininium(2+) tmpxe7fu0cj_hp_relaxed.owl (1-carboxy-4-guanidiniobutyl)ammonium|argininediium|arginine dication|H3arg(2+)|argininium(2+) +2 C6H16N4O2 InChI=1S/C6H14N4O2/c7-4(5(11)12)2-1-3-10-6(8)9/h4H,1-3,7H2,(H,11,12)(H4,8,9,10)/p+2 ODKSFYDXXFIFQN-UHFFFAOYSA-P 176.21700 176.12623 NC(=[NH2+])NCCCC([NH3+])C(O)=O chebi_ontology owl:Class HP:0010885 biolink:NamedThing Avascular necrosis A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. tmpxe7fu0cj_hp_relaxed.owl Aseptic bone necrosis|Osteonecrosis|Bone infarction|Ischemic bone necrosis|Death of bone due to decreased blood supply|Osteochondronecrosis|Ischaemic bone necrosis|Aseptic necrosis UMLS:C0085660|SNOMEDCT_US:240196003|SNOMEDCT_US:398199007|UMLS:C0520474|SNOMEDCT_US:72756009|MSH:D010020|UMLS:C0877326|UMLS:C0029445 The interruption of the blood supply may have many different causes such as rapid growth, heredity causes, trauma or overuse, anatomic conformation, dietary imbalances or secondary effects of other diseases. sdoelken 2010-09-24T10:11:05Z human_phenotype owl:Class GO:0006935 biolink:NamedThing chemotaxis The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). tmpxe7fu0cj_hp_relaxed.owl taxis in response to chemical stimulus Wikipedia:Chemotaxis biological_process owl:Class HP:0001225 biolink:NamedThing Wrist swelling tmpxe7fu0cj_hp_relaxed.owl Wrist swelling UMLS:C0241760 human_phenotype owl:Class HP:0003688 biolink:NamedThing Cytochrome C oxidase-negative muscle fibers An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue. tmpxe7fu0cj_hp_relaxed.owl Decreased activity of cytochrome C oxidase in muscle tissue|Cytochrome C oxidase-negative muscle fibres|Cytochrome c oxidase deficiency in skeletal muscle|Decreased skeletal muscle cytochrome c oxidase activity UMLS:C4021724 This abnormality can be assayed by muscle biopsy. Cytochrome C oxidase is an enzyme of the respiratory electron transport chain of mitochondria that is located in the mitochondrial membrane. HP:0003734|HP:0009006 owl:Class HP:0003800 biolink:NamedThing Muscle abnormality related to mitochondrial dysfunction tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025566 human_phenotype owl:Class CHEBI:139590 biolink:NamedThing primary alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a -CH2 (methylene) group. tmpxe7fu0cj_hp_relaxed.owl primary alpha-hydroxy-ketone|primary alpha-hydroxyketone|primary alpha-hydroxyketones|primary alpha-hydroxy-ketones|primary alpha-hydroxy ketones 0 C2H3O2R 59.044 59.01330 *C(C(O)([H])[H])=O chebi_ontology owl:Class GO:0006486 biolink:NamedThing protein glycosylation A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpxe7fu0cj_hp_relaxed.owl protein-carbohydrate complex assembly|protein amino acid glycosylation GO:0065006 biological_process owl:Class GO:0043413 biolink:NamedThing macromolecule glycosylation The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025114 biolink:NamedThing Hypergranulosis Hypergranulosis is an increased thickness of the stratum granulosum. tmpxe7fu0cj_hp_relaxed.owl 2016-11-01 01:48:14+00:00 Note that the epidermis includes five main layers: the stratum corneum, stratum lucidium, stratum granulosum, stratum spinosum, and stratum germinativum. This term refers to thickening that primarily affects the stratum granulosum. HPO:probinson owl:Class HP:0033670 biolink:NamedThing Organizing pneumonia Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities. tmpxe7fu0cj_hp_relaxed.owl 2021-02-28 14:59:16+00:00 See Figure 45 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0007343 biolink:NamedThing Abnormal morphology of the limbic system Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. tmpxe7fu0cj_hp_relaxed.owl Limbic malformation UMLS:C1863392 human_phenotype owl:Class HP:0045044 biolink:NamedThing Decreased serum complement C4b A reduced level of the complement component C4b in circulation. tmpxe7fu0cj_hp_relaxed.owl C4b deficiency|Complement component 4B deficiency UMLS:C3280641 HPO:skoehler owl:Class HP:0045042 biolink:NamedThing Decreased serum complement C4 A reduced level of the complement component C4 in the circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased serum complement C4 level UMLS:C4073169 HPO:skoehler owl:Class UBERON:0016510 biolink:NamedThing epithelium of male urethra An epithelium that is part of a male urethra. tmpxe7fu0cj_hp_relaxed.owl male urethral epithelium|urethral epithelium of male FMA:19684|EMAPA:30467 uberon owl:Class HP:0032880 biolink:NamedThing Focal impaired awareness sensory seizure with auditory features A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011158 biolink:NamedThing Focal sensory seizure with auditory features A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation. tmpxe7fu0cj_hp_relaxed.owl Focal sensory auditory seizure|Auditory aura|Focal auditory seizure|Partial auditory seizure UMLS:C1838063 More complex auditory hallucinations such as voices are considered a focal cognitive seizure. Focal sensory auditory seizures involve auditory cortex in the lateral superior temporal lobe. peter 2011-10-18T02:26:59Z human_phenotype owl:Class UBERON:0003359 biolink:NamedThing epithelium of submandibular gland An epithelium that is part of a submandibular gland [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl submandibular gland epithelial tissue|submandibular duct epithelium|submaxillary gland epithelium|submandibular gland epithelium|epithelial tissue of submandibular gland|submandibular gland duct epithelium EMAPA:18813|BTO:0004557|VHOG:0000989 uberon owl:Class HP:0007333 biolink:NamedThing Hypoplasia of the frontal lobes Underdevelopment of the frontal lobe of the cerebrum. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped frontal lobe|Frontal lobe hypoplasia|Hypoplastic frontal lobes UMLS:C1849172 HP:0002424 owl:Class GO:0071621 biolink:NamedThing granulocyte chemotaxis The movement of a granulocyte in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl mah 2010-02-09T04:08:17Z biological_process owl:Class GO:0030595 biolink:NamedThing leukocyte chemotaxis The movement of a leukocyte in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl leucocyte chemotaxis|immune cell chemotaxis biological_process owl:Class UBERON:0004403 biolink:NamedThing periosteum of epiphysis A periosteum that is part of a epiphysis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epiphysis periosteum FMA:32687 uberon owl:Class UBERON:0016896 biolink:NamedThing periosteum of long bone A periosteum that is part of a long bone. tmpxe7fu0cj_hp_relaxed.owl long bone periosteum FMA:32677 uberon owl:Class HP:0005479 biolink:NamedThing Decreased circulating IgE An abnormally decreased level of immunoglobulin E (IgE) in blood. tmpxe7fu0cj_hp_relaxed.owl IgE deficiency|Decreased IgE UMLS:C0860904 peter 2008-03-26T08:03:00Z HP:0002854 human_phenotype owl:Class UBERON:0003921 biolink:NamedThing pancreas primordium Embryonic structure that develops into pancreatic bud. tmpxe7fu0cj_hp_relaxed.owl pancreatic endoderm|pancreatic anlage|primordial pancreas|pancreatic primordium FMA:79792|XAO:0001101|EMAPA:17066|EHDAA2:0001382|EHDAA:2163|EFO:0002579|ZFA:0000254|EFO:0003434|TAO:0000254 http://upload.wikimedia.org/wikipedia/commons/d/db/Gray982.png uberon owl:Class in EHDAA2 this has dorsal and ventral primordia as parts. the buds are part of the primordium, with the ducts developing from the buds; only parenchyma and ducts have contribution from buds revisit after standardizing terms 'primordium', 'anlagen', 'bud' UBERON:0003648 biolink:NamedThing metacarpal bone of digit 4 A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 4. tmpxe7fu0cj_hp_relaxed.owl 4 th digit of hand metacarpal|hand digit 4 metacarpal|forelimb digit 4 metacarpus|metacarpal bone of fourth finger|metacarpal bone of 4 th digit of hand|4 th finger metacarpal|metacarpal of 4 th digit of hand|metacarpal bone of 4 th finger|manual digit 4 metacarpus|finger 4 metacarpus|metacarpal bone of hand digit 4|metacarpal of fourth finger|metacarpal of hand digit 4|metacarpal bone of digit IV|metacarpal IV|metacarpal 4|4 th digit of hand metacarpal bone|fourth finger metacarpal|hand digit 4 metacarpal bone|fourth finger metacarpal bone|metacarpal of 4 th finger|fourth metacarpal bone|metacarpal bone digit 4|4 th finger metacarpal bone AAO:0010615|EMAPA:19118|FMA:23902|NCIT:C52793|MA:0001367|UMLS:C1708990 uberon owl:Class The fourth metacarpal bone (metacarpal bone of the ring finger) is shorter and smaller than the third. The base is small and quadrilateral; its superior surface presents two facets, a large one medially for articulation with the hamate, and a small one laterally for the capitate. On the radial side are two oval facets, for articulation with the third metacarpal; and on the ulnar side a single concave facet, for the fifth metacarpal[Wikipedia:Fourth_metacarpal_bone]. 4 CL:0000227 biolink:NamedThing binucleate cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class GO:0003237 biolink:NamedThing sinus venosus formation The developmental process pertaining to the initial formation of the sinus venosus from unspecified parts. The sinus venosus is a heart chamber attached to the atrium on the venous side of the embryonic heart. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T11:18:34Z biological_process owl:Class HP:0030791 biolink:NamedThing Abnormal jaw morphology A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280767 owl:Class HP:0002879 biolink:NamedThing Anisospondyly Abnormally increased variability of the size of the vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857101 human_phenotype owl:Class HP:0010655 biolink:NamedThing Epiphyseal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. tmpxe7fu0cj_hp_relaxed.owl Stippling of the epiphyses|Stippled epiphyses|Speckled calcifications in end part of bone|Epiphyseal punctate calcifications SNOMEDCT_US:360507004|UMLS:C1859126 Stippling resolves with maturation of the epiphysis but is often replaced by some permament epiphyseal abnormality. doelkens 2010-02-25T09:41:24Z HP:0002658|HP:0010586 human_phenotype owl:Class HP:0011897 biolink:NamedThing Neutrophilia Increased number of neutrophils circulating in blood. tmpxe7fu0cj_hp_relaxed.owl Increased blood neutrophil counts UMLS:C4023140 peter 2012-06-03T03:16:43Z human_phenotype owl:Class HP:0033184 biolink:NamedThing Triggered by infection tmpxe7fu0cj_hp_relaxed.owl 2020-10-04 11:47:16+00:00 Applies to a sign or symptom that is provoked or brought about by an infection, that is by invasion and multiplication of microorganisms such as bacteria, viruses, and parasites that are not normally present within the body. peter owl:Class HP:0003426 biolink:NamedThing First dorsal interossei muscle atrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C1832278 human_phenotype owl:Class NBO:0000129 biolink:NamedThing agitation behavior "Emotional behavior related to excitement or restlessness." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-03-31T12:22:11Z George Gkoutos behavior_ontology owl:Class HP:0005041 biolink:NamedThing Irregular capital femoral epiphysis Irregular surface of the normally relatively smooth capital femoral epiphysis. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of innermost thighbone|Irregular proximal femoral epiphyses|Irregular capital femoral epiphyses UMLS:C4020825 HP:0008806 human_phenotype owl:Class HP:0002151 biolink:NamedThing Increased serum lactate Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). tmpxe7fu0cj_hp_relaxed.owl Higher than normal levels of lactate in blood|Increased blood lactate UMLS:C1836440 HP:0003638 human_phenotype owl:Class CHEBI:166902 biolink:NamedThing noradrenaline(1+) tmpxe7fu0cj_hp_relaxed.owl noradrenaline +1 C8H12NO3 InChI=1S/C8H11NO3/c9-4-8(12)5-1-2-6(10)7(11)3-5/h1-3,8,10-12H,4,9H2/p+1 SFLSHLFXELFNJZ-UHFFFAOYSA-O 170.187 170.08117 C1=CC(=CC(=C1O)O)C(C[NH3+])O chebi_ontology owl:Class PATO:0002002 biolink:NamedThing has extra parts of type The bearer of this quality has_part > n of the indicated entity type, where n is the normal amount for a comparable organism. Note that the bearer of the quality is the whole, not the part. tmpxe7fu0cj_hp_relaxed.owl increased number of|has increased number of|having supernumerary physical parts|having extra physical parts|has extra parts of In polydactyly, the bearer of the quality is the hand, and the entity type being counted is 'finger'. In EQ syntax, E=hand, Q= E2=finger. PATO:0001560 quality owl:Class CHEBI:47880 biolink:NamedThing steroid ester tmpxe7fu0cj_hp_relaxed.owl steroid esters KEGG:C15506 CHEBI:26762 chebi_ontology owl:Class HP:0009194 biolink:NamedThing Small epiphyses of the metacarpals Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of the long bone of hand UMLS:C4024543 doelkens 2008-12-30T02:03:34Z human_phenotype owl:Class HP:3000052 biolink:NamedThing Abnormality hyoid bone morphology Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra. tmpxe7fu0cj_hp_relaxed.owl Abnormality of hyoid bone UMLS:C4073260 vasilevs 2015-08-07T01:09:03Z owl:Class HP:0033360 biolink:NamedThing Impaired ability to shift attention A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible. tmpxe7fu0cj_hp_relaxed.owl Impaired task shifting 2020-12-02 20:43:41+00:00 peter owl:Class HP:0007668 biolink:NamedThing Impaired pursuit initiation and maintenance tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969722 human_phenotype owl:Class HP:0000617 biolink:NamedThing Abnormality of ocular smooth pursuit An abnormality of eye movement characterized by impaired smooth-pursuit eye movements. tmpxe7fu0cj_hp_relaxed.owl Abnormal smooth pursuits|Irregular visual pursuit movements|Impaired smooth pursuit ocular movements|Disrupted ocular pursuit movements UMLS:C1836393 Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. Slow-pursuit eye movements are involved in tracking a slowly moving target after the saccadic system has placed the image of the target on the fovea. HP:0007671|HP:0008006 human_phenotype owl:Class GO:1904267 biolink:NamedThing negative regulation of Schwann cell chemotaxis Any process that stops, prevents or reduces the frequency, rate or extent of Schwann cell chemotaxis. tmpxe7fu0cj_hp_relaxed.owl downregulation of Schwann cell chemotaxis|down regulation of Schwann cell chemotaxis|down-regulation of Schwann cell chemotaxis|inhibition of Schwann cell chemotaxis sl 2015-05-28T17:47:48Z biological_process owl:Class HP:0001101 biolink:NamedThing Iritis Inflammation of the iris. tmpxe7fu0cj_hp_relaxed.owl Inflammation of iris UMLS:C0022081|SNOMEDCT_US:65074000|MSH:D007500 human_phenotype owl:Class HP:0100744 biolink:NamedThing Abnormality of the humeroradial joint tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021981 doelkens 2011-06-06T06:24:45Z human_phenotype owl:Class UBERON:0004242 biolink:NamedThing bronchus smooth muscle A portion of smooth muscle tissue that is part of a bronchus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bronchus involuntary muscle|bronchial trunk smooth muscle|non-striated muscle of bronchial trunk|bronchial trunk involuntary muscle|involuntary muscle of bronchial trunk|bronchi involuntary muscle|bronchial trunk non-striated muscle|involuntary muscle of bronchi|involuntary muscle of bronchus|bronchus non-striated muscle|smooth muscle of bronchus|bronchi non-striated muscle|bronchial smooth muscle|non-striated muscle of bronchus|bronchi smooth muscle|smooth muscle of bronchi|smooth muscle of bronchial trunk|smooth muscle tissue of bronchi|non-striated muscle of bronchi|smooth muscle tissue of bronchial trunk|smooth muscle tissue of bronchus|bronchial trunk smooth muscle tissue|bronchi smooth muscle tissue|bronchus smooth muscle tissue EMAPA:35195|BTO:0004401|UMLS:C1707055|NCIT:C49213|MA:0001840 uberon owl:Class GO:0032364 biolink:NamedThing oxygen homeostasis A homeostatic process involved in the maintenance of an internal steady state of oxygen within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0033483 biolink:NamedThing gas homeostasis A homeostatic process involved in the maintenance of an internal steady state of a gas within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0004952 biolink:NamedThing submucosa of bronchiole A submucosa that is part of a bronchiole [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl submucosa of lobular bronchiole|lobular bronchiole submucosa|bronchiole submucosa FMA:62775 uberon owl:Class HP:0002314 biolink:NamedThing Degeneration of the lateral corticospinal tracts Deterioration of the tissues of the lateral corticospinal tracts. tmpxe7fu0cj_hp_relaxed.owl Degeneration of lateral corticospinal tracts UMLS:C1846566 HP:0007254 human_phenotype owl:Class UBERON:0009709 biolink:NamedThing ventral pancreas tmpxe7fu0cj_hp_relaxed.owl pancreatis ventralis EHDAA2:0001393 uberon owl:Class HP:0030565 biolink:NamedThing Best corrected visual acuity 1.2 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073038 owl:Class HP:0004298 biolink:NamedThing Abnormality of the abdominal wall The presence of any abnormality affecting the abdominal wall. tmpxe7fu0cj_hp_relaxed.owl Abnormality of external features of the abdomen|Abnormality of the abdominal wall UMLS:C4021664 peter 2008-02-20T11:40:00Z HP:0001462 human_phenotype owl:Class HP:0012513 biolink:NamedThing Upper limb pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm. tmpxe7fu0cj_hp_relaxed.owl Upper limb pain UMLS:C0239377|SNOMEDCT_US:102556003 peter 2013-12-08T09:07:11Z human_phenotype owl:Class HP:0009763 biolink:NamedThing Limb pain Chronic pain in the limbs with no clear focal etiology. tmpxe7fu0cj_hp_relaxed.owl Limb pain|Pain in extremities SNOMEDCT_US:90834002|UMLS:C0030196 peter 2009-02-01T03:55:10Z human_phenotype owl:Class HP:0009161 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 5th finger Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. tmpxe7fu0cj_hp_relaxed.owl Absent/small middle bone of pinky finger|Absent/underdeveloped middle bone of pinky finger|Absent/hypoplastic middle phalanx of 5th finger|Absent/underdeveloped middle bone of pinkie finger|Absent/underdeveloped middle bone of little finger UMLS:C1834034 peter 2008-12-22T05:55:56Z HP:0006242 human_phenotype owl:Class HP:0030990 biolink:NamedThing Pleomorphic cholangitis Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree. tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 13:41:39+00:00 peter owl:Class UBERON:0001328 biolink:NamedThing lobe of prostate A portion of a prostate that forms a lobe. tmpxe7fu0cj_hp_relaxed.owl lobe of prostate gland|prostatic lobe|prostate gland lobe MA:0001738|FMA:19570|NCIT:C52726|BTO:0000548|EMAPA:35712|UMLS:C0227970 uberon owl:Class Anatomically, the human prostate gland is located between the base of the bladder and the rectum, and it completely surrounds the proximal urethra (Fig. 1A). It is a single alobular structure with central (CZ), peripheral (PZ) and transitional (TZ) zones. In contrast, the mouse prostate is not merged into one compact anatomical structure. It comprises four paired lobes situated circumferentially around the urethra, immediately caudal to the urinary bladder-namely, anterior (AP), dorsal (DP), lateral (LP), and ventral (VP) prostate (Fig. 1B). Often, the dorsal and the lateral lobes are thought of in combination and referred to as the dorsolateral (DLP) lobe as they share a ductal system. The mouse AP is considered analogous to the human CZ, which is rarely a site of neoplastic transformation in humans. The mouse DLP is considered most similar to the human PZ, which is the zone in which most carcinomas arise (Xue et al. 1997). These analogies, however, are limited as they are based solely on descriptive data and need to be re-evaluated using molecular techniques before the relationship between specific mouse prostate lobes and the human prostate zones is definitively asserted (Abate-Shen & Shen 2000). The mouse VP does not have a human homologue, and the human TZ does not have a murine homologue GO:0005640 biolink:NamedThing nuclear outer membrane The outer, i.e. cytoplasm-facing, lipid bilayer of the nuclear envelope; continuous with the endoplasmic reticulum of the cell and sometimes studded with ribosomes. tmpxe7fu0cj_hp_relaxed.owl nucleus outer envelope|perinuclear membrane NIF_Subcellular:sao1617136075 cellular_component owl:Class HP:0009351 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 3rd finger Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of innermost long bone of the middle finger UMLS:C4024418 doelkens 2009-01-12T11:19:03Z human_phenotype owl:Class PATO:0040047 biolink:NamedThing fragmented Existing or functioning as though broken into separate parts; disorganized; disunified. tmpxe7fu0cj_hp_relaxed.owl Moved to a child of wholeness because broken implies a trauma and fragmented could be caused by a developmental process. See HP:0100168 Fragmented epiphyses as an example. quality owl:Class PATO:0001442 biolink:NamedThing wholeness A structural quality inhering in a bearer by virtue of whether the bearer includes all its components. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0001024 biolink:NamedThing Skin dimple over apex of long bone angulation tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855815 human_phenotype owl:Class HP:0010781 biolink:NamedThing Skin dimple Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. tmpxe7fu0cj_hp_relaxed.owl Skin dimples UMLS:C0578531|SNOMEDCT_US:301854006 peter 2010-04-30T11:34:41Z human_phenotype owl:Class HP:0032803 biolink:NamedThing Focal impaired awareness cognitive seizure with dysgraphia/agraphia A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0005113 biolink:NamedThing metanephric cortex mesenchyme tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001140 uberon owl:Class UBERON:0000127 biolink:NamedThing facial nucleus The group of motor neurons residing in the pons that innervate the muscles of facial expression. tmpxe7fu0cj_hp_relaxed.owl facial nerve nucleus|facial VII nucleus|nucleus of facial nerve|facial VII motor nucleus UMLS:C0228740|BM:Pons-VII|BAMS:7N|EMAPA:35338|MA:0001014|FMA:54572|BAMS:VII|BAMS:7|DHBA:12420|VHOG:0001412|EV:0100267|NCIT:C12898|EHDAA2:0004638 uberon owl:Class FMA has 3 subclasses - left, right and motor nucleus of facial nerve, but no defs. It's not clear how facial nucleus is distinct from facial motor nucleus. UBERON:0003322 biolink:NamedThing mesenchyme of shoulder Mesenchyme that is part of a developing shoulder [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl shoulder mesenchyme EMAPA:17423|EHDAA2:0001837|EHDAA:4184|EHDAA:6232|VHOG:0001035 uberon owl:Class HP:0000707 biolink:NamedThing Abnormality of the nervous system An abnormality of the nervous system. tmpxe7fu0cj_hp_relaxed.owl Brain and/or spinal cord issue|Neurological abnormality|Abnormality of the nervous system|Neurologic abnormalities SNOMEDCT_US:88425004|UMLS:C0497552|MSH:D009421 The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. HP:0001333|HP:0006987 owl:Class UBERON:0011111 biolink:NamedThing humeroradial joint A hinge joint between the head of the radius and the capitulum of the humerus. tmpxe7fu0cj_hp_relaxed.owl humero-radial joint|articulatio humeroradialis FMA:38855 http://upload.wikimedia.org/wikipedia/commons/9/97/Gray329.png uberon owl:Class HP:0002792 biolink:NamedThing Reduced vital capacity An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. tmpxe7fu0cj_hp_relaxed.owl Decreased vital capacity UMLS:C0520831|UMLS:C0476408|SNOMEDCT_US:607007|SNOMEDCT_US:274715008 owl:Class HP:0012637 biolink:NamedThing Renal calcium wasting High urine calcium in the presence of hypocalcemia. tmpxe7fu0cj_hp_relaxed.owl Renal Ca wasting|Kidney calcium wasting|Kidney Ca2+ wasting|Renal Ca2+ wasting|Kidney Ca wasting UMLS:C2673441 peter 2014-01-18T04:46:41Z human_phenotype owl:Class HP:0003977 biolink:NamedThing Deformed radius tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025467 HP:0005046 human_phenotype owl:Class HP:0003959 biolink:NamedThing Deformed forearm bones tmpxe7fu0cj_hp_relaxed.owl Deformed forearm bones UMLS:C4025479 human_phenotype owl:Class HP:0007768 biolink:NamedThing Central retinal vessel vascular tortuosity The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules). tmpxe7fu0cj_hp_relaxed.owl Tortuosity of main retinal vessels UMLS:C4021569 HP:0008015 human_phenotype owl:Class HP:0000631 biolink:NamedThing Retinal arterial tortuosity The presence of an increased number of twists and turns of the retinal artery. tmpxe7fu0cj_hp_relaxed.owl Retinal artery tortuousity SNOMEDCT_US:247123003|UMLS:C0423401 human_phenotype owl:Class HP:0003581 biolink:NamedThing Adult onset Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. tmpxe7fu0cj_hp_relaxed.owl Symptoms begin in adulthood|Onset in early adulthood|Onset in adulthood UMLS:C1853562 HP:0003669|HP:0003598|HP:0003585|HP:0003627|HP:0003662 owl:Class UBERON:0005268 biolink:NamedThing renal cortex artery An artery that supplies the renal cortex. tmpxe7fu0cj_hp_relaxed.owl kidney cortex artery|renal cortex artery|renal cortex arterial system MA:0002582|EMAPA:28147 uberon owl:Class UBERON:0003644 biolink:NamedThing kidney arterial blood vessel An arterial blood vessel that is part of a kidney [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl kidney arterial system EMAPA:31436|MA:0002578 uberon owl:Class UBERON:0011960 biolink:NamedThing articular capsule of glenohumeral joint An articular capsule that is part of the glenohumeral joint. tmpxe7fu0cj_hp_relaxed.owl fibrous capsule of glenohumeral joint|capsule of shoulder joint|glenohumeral joint capsule|articular capsule of shoulder joint|articular capsule of humerus FMA:34944 uberon owl:Class CHEBI:15963 biolink:NamedThing ribitol A pentitol (five-carbon sugar alcohol) having meso-configuration, being derived from ribose by reduction of the carbonyl group. It occurs naturally in the plant Adonis vernalis. tmpxe7fu0cj_hp_relaxed.owl D-Adonitol|D-Ribitol|Adonitol|Ribitol|ribitol|(2R,3s,4S)-pentane-1,2,3,4,5-pentol|L-ribitol|meso-ribitol 0 C5H12O5 InChI=1S/C5H12O5/c6-1-3(8)5(10)4(9)2-7/h3-10H,1-2H2/t3-,4+,5- HEBKCHPVOIAQTA-ZXFHETKHSA-N 152.14578 152.06847 OC[C@H](O)[C@H](O)[C@H](O)CO PMID:17336832|Beilstein:1720524|PMID:16664320|Reaxys:1720524|KNApSAcK:C00001171|CAS:488-81-3|PMID:17979222|PMID:23564164|Wikipedia:Ribitol|KEGG:C00474|PMID:25108762|Gmelin:82894|HMDB:HMDB0000508|PMID:15234337|MetaCyc:RIBITOL|PMID:24643482|PMID:16901854 CHEBI:26552|CHEBI:15043|CHEBI:21074|CHEBI:48505|CHEBI:57591|CHEBI:27854|CHEBI:8841|CHEBI:4230 chebi_ontology owl:Class HP:0025263 biolink:NamedThing Stiff knee A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity. tmpxe7fu0cj_hp_relaxed.owl Stiff knee|Knee stiffness 2016-12-18 01:16:12+00:00 HPO:probinson owl:Class HGNC:8149 biolink:NamedThing OPLAH (human) A protein coding gene OPLAH in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class GO:0043542 biolink:NamedThing endothelial cell migration The orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0001141 biolink:NamedThing Severely reduced visual acuity Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation). tmpxe7fu0cj_hp_relaxed.owl Marked vision impairment|Severe reduction in visual acuity|Severe visual impairment|Severe visual loss|Severely impaired vision|Severe vision loss UMLS:C1301509|SNOMEDCT_US:397541004 HP:0007640|HP:0008023|HP:0007951|HP:0007842 owl:Class HP:0500259 biolink:NamedThing Abnormal oxygen level in cord blood An abnormal level of blood oxygen in the cord blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal oxygen amount in umbilical cord blood|Abnormal O2 level in cord blood|Abnormal cord blood oxygen levels 2019-04-23 17:11:51+00:00 owl:Class HP:0410211 biolink:NamedThing Abnormal blood gas level in cord blood tmpxe7fu0cj_hp_relaxed.owl 2018-09-12 00:44:12+00:00 owl:Class HP:0100448 biolink:NamedThing Curved proximal phalanx of the 5th toe A deviation from the normal straight form of the proximal phalanx of the fifth toe. tmpxe7fu0cj_hp_relaxed.owl Curved innermost pinkie toe bone|Curved innermost little toe bone|Curved innermost pinky toe bone UMLS:C4022079 human_phenotype owl:Class HP:0010394 biolink:NamedThing Abnormal morphology of the proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the innermost bone of the pinkie toe|Abnormality of the innermost bone of the pinky toe|Abnormality of the innermost bone of the little toe UMLS:C4023860 doelkens 2009-07-16T11:52:18Z owl:Class GO:1901148 biolink:NamedThing gene expression involved in extracellular matrix organization Any gene expression that is involved in extracellular matrix organization. Gene expression includes both transcription to produce an RNA transcript, and the translation of that mRNA into protein. Protein maturation is included in gene expression when required to form an active form of a product from an inactive precursor form. tmpxe7fu0cj_hp_relaxed.owl expression of extracellular matrix proteins|extracellular matrix protein production bf 2012-07-16T03:29:30Z biological_process owl:Class UBERON:0001204 biolink:NamedThing mucosa of small intestine A mucosa that is part of a small intestine [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl small intestine organ mucosa|mucosa of organ of small bowel|small intestinal mucosa|organ mucosa of small intestine|tunica mucosa intestini tenuis|small bowel mucosa of organ|organ mucosa of small bowel|small intestine mucous membrane|tunica mucosa (intestinum tenue)|mucous membrane of small intestine|mucous membrane of small bowel|small intestine mucosa|mucosa of organ of small intestine|small bowel mucosa|small intestine mucosa of organ|mucosa of small bowel|small bowel organ mucosa|small bowel mucous membrane EMAPA:35780|UMLS:C0227261|CALOHA:TS-0941|MA:0002686|BTO:0001259|FMA:14933|NCIT:C33568 uberon owl:Class HP:0030603 biolink:NamedThing Abnormal optical coherence tomography tmpxe7fu0cj_hp_relaxed.owl UMLS:C3665728 owl:Class UBERON:0005470 biolink:NamedThing right umbilical artery tmpxe7fu0cj_hp_relaxed.owl embryonic right umbilical artery EMAPA:16545|EHDAA2:0001760|FMA:18821|VHOG:0000523 uberon owl:Class HP:0012762 biolink:NamedThing Cerebral white matter atrophy The presence of atrophy (wasting) of the cerebral white matter. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022735 hecht 2014-04-06T10:55:36Z owl:Class HP:0031329 biolink:NamedThing Interstitial cardiac fibrosis A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 12:39:54+00:00 peter owl:Class HP:0001685 biolink:NamedThing Myocardial fibrosis Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0151654 Myocardial fibrosis disrupts the myocardial architecture, contributes to myocardial disarray, and determines mechanical, electrical, and vasomotor dysfunction, thus promoting the progression of cardiac diseases to heart failure. human_phenotype owl:Class HP:0002249 biolink:NamedThing Melena The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. tmpxe7fu0cj_hp_relaxed.owl Black feces|Black faeces UMLS:C0474585|SNOMEDCT_US:267055007|SNOMEDCT_US:269899009|UMLS:C0025222|SNOMEDCT_US:2901004|SNOMEDCT_US:249627005|SNOMEDCT_US:35064005|MSH:D008551 human_phenotype owl:Class HP:0025085 biolink:NamedThing Bloody diarrhea Passage of many stools containing blood. tmpxe7fu0cj_hp_relaxed.owl Bloody diarrhoea|Blood in stool|Bloody bowel movement|Bloody diarrhea|Bloody stool 2016-10-15 13:58:14+00:00 Diarrhea that contains bright red or maroon-colored blood may be referred to as hematochezia, while melena is used to describe black, tarry, and smelly diarrhea. HPO:probinson owl:Class CL:0002375 biolink:NamedThing Schwann cell precursor A giioblast cell that develops from a migratory neural crest cell. The SCP is embedded among neurons (axons) with minimal extracellular spaces separating them from nerve cell membranes and has no basal lamina. In rodents SCPs are the only cells in the Schwann cell linage that expresses Cdh19. tmpxe7fu0cj_hp_relaxed.owl Schwann cell precursor cell tmeehan 2010-09-24T02:06:10Z cell owl:Class HP:0011333 biolink:NamedThing Asymmetric crying face Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side. tmpxe7fu0cj_hp_relaxed.owl Asymmetric crying face|Partial unilateral facial paresis|Hypoplasia of depressor angula oris muscle UMLS:C0431406|SNOMEDCT_US:51409009|MSH:C535349|UMLS:C4280327 Asymmetric crying facies is caused by underdevelopment of the depressor anguli oris muscle or compression of one of the branches of the facial nerve. peter 2012-02-25T05:07:01Z human_phenotype owl:Class HP:0000324 biolink:NamedThing Facial asymmetry An abnormal difference between the left and right sides of the face. tmpxe7fu0cj_hp_relaxed.owl Uneven sides of face|Unbalanced face|Uneven face|Crooked face|Asymmetry of face|Unequal sides of face|Unsymmetrical face|Asymmetric facies|Facial asymmetry|Asymmetry of right and left side of face UMLS:C1306710|SNOMEDCT_US:15253005|MSH:D005146 HP:0003775 human_phenotype owl:Class UBERON:0034720 biolink:NamedThing head taste bud A taste bud that is located on the skin of the head. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class CL:0000900 biolink:NamedThing naive thymus-derived CD8-positive, alpha-beta T cell A CD8-positive, alpha-beta T cell that has not experienced activation via antigen contact and has the phenotype CD45RA-positive, CCR7-positive and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low. tmpxe7fu0cj_hp_relaxed.owl naive thymus-dervied CD8-positive, alpha-beta T-cell|naive thymus-dervied CD8-positive, alpha-beta T-lymphocyte|naive thymus-dervied CD8-positive, alpha-beta T lymphocyte|naive CD8+ T cell|T.8Nve.Sp This cell traffics in secondary lymphoid organs and blood. This cell type is compatible with the HIPC Lyoplate markers for 'naive CD8+ T cell', but includes additional markers known to be expressed on naive CD8+ T cells. cell owl:Class CL:0000898 biolink:NamedThing naive T cell Mature T cell not yet exposed to antigen with the phenotype CCR7-positive, CD45RA-positive, and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low. tmpxe7fu0cj_hp_relaxed.owl naive T-lymphocyte|naive T lymphocyte|naive T-cell cell owl:Class UBERON:0003474 biolink:NamedThing meningeal artery One of the arteries supplying a meninix[Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37104|MA:0002001|GAID:499|Wikipedia:Meningeal_arteries|MESH:D008576 uberon owl:Class UBERON:0005622 biolink:NamedThing right dorsal aorta tmpxe7fu0cj_hp_relaxed.owl MA:0000479|EHDAA2:0001720|SCTID:361404004|EMAPA:16206|VHOG:0000485|EHDAA:406 uberon owl:Class A study of embryos shows that in all vertebrates six arterial arches link the ventral aorta with a pair of lateral dorsal aortae on each side of the body. The latter unite posteriorly to form a single median dorsal aorta wich takes blood to the body.[well established][VHOG] Normally regresses in humans HP:0009358 biolink:NamedThing Abnormality of the proximal phalanx of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl Abnormality of proximal middle-finger phalanx|Abnormal innermost bone of middle finger UMLS:C4021485 doelkens 2009-01-12T11:42:37Z HP:0004167 human_phenotype owl:Class CHEBI:25704 biolink:NamedThing organic sulfate Compounds of the general formula SO3HOR where R is an organyl group tmpxe7fu0cj_hp_relaxed.owl organic sulfates chebi_ontology owl:Class HP:0012554 biolink:NamedThing Absent thumbnail Absence of thumb nail. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022849 peter 2014-01-04T01:05:52Z human_phenotype owl:Class HP:0001817 biolink:NamedThing Absent fingernail Absence of a fingernail. tmpxe7fu0cj_hp_relaxed.owl Absent fingernail|Aplasia of the fingernail|Anonychia of fingernails UMLS:C1844554 human_phenotype owl:Class UBERON:0011318 biolink:NamedThing capsule of temporomandibular joint The articular capsule (capsular ligament) is a thin, loose envelope, attached above to the circumference of the mandibular fossa and the articular tubercle immediately in front; below, to the neck of the condyle of the mandible. tmpxe7fu0cj_hp_relaxed.owl capsula articularis articulationis temporomandibularis|articular capsule of temporomandibular joint FMA:57050|MFMO:0000046 uberon owl:Class HP:0010066 biolink:NamedThing Duplication of phalanx of hallux Partial or complete duplication of one or more phalanx of big toe. tmpxe7fu0cj_hp_relaxed.owl Hallucal duplication|Duplication of phalanx of big toe|Partial/complete duplication of the phalanges of the hallux|Duplicated hallux|Duplication of great toes|Duplication of big toe bone UMLS:C4020691|UMLS:C1860164 doelkens 2009-05-29T12:10:46Z HP:0005785|HP:0001784|HP:0005851 owl:Class HP:0032412 biolink:NamedThing Anterior predominant subcortical band heterotopia Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes. tmpxe7fu0cj_hp_relaxed.owl Frontal subcortical band heterotopia|Subcortical band heterotopia anterior predominant 2019-02-24 21:22:36+00:00 peter owl:Class HP:0009514 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 2nd finger An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the middle long bone of the index finger UMLS:C4024318 doelkens 2009-01-16T01:12:17Z human_phenotype owl:Class HP:0010886 biolink:NamedThing Osteochondritis Dissecans A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage. tmpxe7fu0cj_hp_relaxed.owl Osteochondrosis dissecans UMLS:C0029421|MSH:D010008|SNOMEDCT_US:82562007 Joints that are most often affected by Osteochondrosis dissecans are elbow and hip, but also wrist and ankel joints. sdoelken 2010-09-24T10:15:07Z human_phenotype owl:Class HP:0500141 biolink:NamedThing Hypophenylalaninemia A decreased amount of phenylalanine in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased blood phenylalanine|Low blood phenylalanine 2018-10-03 19:58:21+00:00 owl:Class UBERON:0009145 biolink:NamedThing pharyngeal region of foregut tmpxe7fu0cj_hp_relaxed.owl pharyngeal region EMAPA:16549|RETIRED_EHDAA2:0001454 uberon owl:Class UBERON:1000004 biolink:NamedThing collection of hair on external ear A collection of hairs that grows on the external ear. tmpxe7fu0cj_hp_relaxed.owl external ear hair uberon owl:Class HP:0001344 biolink:NamedThing Absent speech Complete lack of development of speech and language abilities. tmpxe7fu0cj_hp_relaxed.owl Absent speech development|Lack of speech|Nonverbal|No speech or language development|No speech development|Lack of language development UMLS:C1854882|UMLS:C0746940 This term should not be used in very young children. HP:0001617|HP:0006798 owl:Class UBERON:0001957 biolink:NamedThing submucosa of bronchus A submucosa that is part of a bronchus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bronchial submucosa|bronchus submucosa|submucosa of bronchial trunk|bronchial trunk submucosa|submucosa of bronchi|submucous layer of bronchi|tela submucosa bronchi|bronchi submucosa NCIT:C49214|EMAPA:37449|BTO:0002108|UMLS:C0225601|FMA:62653|MA:0001837 uberon owl:Class UBERON:0004777 biolink:NamedThing respiratory system submucosa A submucosa that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl submucosa of apparatus respiratorius|submucosa of respiratory system|apparatus respiratorius submucosa MA:0001822|EMAPA:37578 uberon owl:Class PATO:0001625 biolink:NamedThing increased functionality A functional quality held by the bearer when the latter exhibits increased ability to perform a regular function(s). tmpxe7fu0cj_hp_relaxed.owl high functionality quality owl:Class PATO:0001559 biolink:NamedThing having extra function A functionality quality which is held by the bearer when the latter is able to perform additional or different function(s). tmpxe7fu0cj_hp_relaxed.owl having supernumerary functions quality owl:Class UBERON:0002824 biolink:NamedThing vestibular ganglion The ganglion of the vestibular nerve. It contains the cell bodies of the bipolar primary afferent neurons whose peripheral processes form synaptic contact with hair cells of the vestibular sensory end organs[WP,unvetted]. Distributed to the maculae of the utricle and saccule and to the ampullary crests of the semicircular ducts. The vestibular fibers arise in bipolar cells in the vestibular ganglion in the internal acoustic meatus. tmpxe7fu0cj_hp_relaxed.owl vestibulocochlear ganglion vestibular component|nucleus nervi oculomotorii, pars medialis|vestibular part of vestibulocochlear ganglion|vestibulocochlear VIII ganglion vestibular component|Scarpa's ganglion BAMS:GvVIII|FMA:53435|BIRNLEX:2549|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=495|UMLS:C0446706|UMLS:C0036286|EMAPA:17573|VHOG:0000682|RETIRED_EHDAA2:0002199|NCIT:C33870|MA:0001086 uberon owl:Class HP:0004912 biolink:NamedThing Hypophosphatemic rickets tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:66266003|MSH:D063730|UMLS:C1704375 human_phenotype owl:Class HP:0031044 biolink:NamedThing Type A5 brachydactyly A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5. tmpxe7fu0cj_hp_relaxed.owl 2017-05-27 13:48:13+00:00 Individuals with BDA5 may have nail dysplasia; this should be coded separately. peter owl:Class UBERON:0018579 biolink:NamedThing lower second secondary molar tooth tmpxe7fu0cj_hp_relaxed.owl mandibular second secondary molar tooth|lower secondary molar 2|lower second permanent molar tooth FMA:55815 TODO - tooth numbering nomeculature to be aligned across species uberon owl:Class HP:0032785 biolink:NamedThing Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011159 biolink:NamedThing Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. tmpxe7fu0cj_hp_relaxed.owl Epigastric auras|Epigastric aura|Partial seizure with epigastric sensation|Visceral aura|Localised seizure with epigastric sensation|Abdominal aura|Localized seizure with epigastric sensation UMLS:C4023506 This includes epigastric sensations (which may rise up to the chest or throat) such as upper abdominal discomfort, emptiness, tightness, churning, or hunger, as well as ictal nausea and ictal vomiting. peter 2011-10-18T02:27:58Z owl:Class HP:0003304 biolink:NamedThing Spondylolysis Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma. tmpxe7fu0cj_hp_relaxed.owl MSH:D013169|SNOMEDCT_US:240221008|UMLS:C0038018 The pars interarticularis is one of the bony bridges that connect the upper with the lower facet joints of the vertebra. Lumbar spondylolysis is a common cause of lower back pain. The vast majority of cases of spondylolysis occur at the L5 or L4 levels, and is usually diagnosed radiographically. Over half of patients affected by spondylolysis have associated spondylolisthesis. human_phenotype owl:Class UBERON:0001264 biolink:NamedThing pancreas An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. tmpxe7fu0cj_hp_relaxed.owl MAT:0000075|ZFA:0000140|MIAA:0000075|CALOHA:TS-0736|BTO:0000988|EHDAA2:0001367|EMAPA:17503|NCIT:C12393|OpenCyc:Mx4rvVimZZwpEbGdrcN5Y29ycA|MA:0000120|EFO:0000855|UMLS:C0030274|galen:Pancreas|AAO:0010112|XAO:0000136|FMA:7198|MESH:D010179|TAO:0000140|EHDAA:6893|GAID:334|EV:0100092|VHOG:0000050 https://upload.wikimedia.org/wikipedia/commons/7/7e/Blausen_0699_PancreasAnatomy2.png uberon owl:Class Organ which secretes a fluid containing enzymes that aid in the digestion of food.[AAO] In the hagfish and lampreys (our most primitive vertebrate species of today), the first sign of 'a new organ' is found as collections of endocrine cells around the area of the bile duct connection with the duodenum. These endocrine organs are composed of 99% beta cells and 1% somatostatin-producing delta cells. Compared to the more primitive protochordates (e.g. amphioxus), this represents a stage where all previously scattered insulin-producing cells of the intestinal tissue have now quantitatively migrated to found a new organ involved in sensing blood glucose rather than gut glucose. Only later in evolution, the beta cells are joined by exocrine tissue and alpha cells (exemplified by the rat-, rabbit- and elephant-fishes). Finally, from sharks and onwards in evolution, we have the islet PP-cell entering to complete the pancreas.[well established][VHOG] pancreatic The zebrafish does not have a discrete pancreas. Exocrine pancreatic tissue can be found scattered along the intestinal tract. The acinar structure of the exocrine pancreas is very similar to that of mammals and comprises cells with a very dark, basophilic cytoplasm|As a secretory organ serving exocrine and endocrine functions, the pancreas is specific to the vertebrates[PMID:16417468] Hagfishes and lampreys are unique in the complete separation of their endocrine pancreas (islet or- gan) and their exocrine pancreas (50). The endocrine and exocrine pancreas are coassociated in crown gnathostomes (50). In Branchiostoma and Ciona, there is no diverticulum as there is in hagfishes, lampreys, and gnathostomes, only dispersed insulin-secreting cells in the walls of the gastrointestinal tract (51, 52) The mature pancreas of higher vertebrates and mammals comprises two major functional units: the exocrine pancreas, which is responsible for the production of digestive enzymes to be secreted into the gut lumen, and the endocrine pancreas, which has its role in the synthesis of several hormones with key regulatory functions in food uptake and metabolism. The exocrine portion constitutes the majority of the mass of the pancreas, and contains only two different cell types, the secretory acinar cells and the ductular cells. The endocrine portion, which comprises only 1-2% of the total mass, contains five different cell types, which are organized into mixed functional assemblies referred to as the islets of Langerhans HP:0030538 biolink:NamedThing Unaided visual acuity 0.3 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073012 owl:Class HP:0000260 biolink:NamedThing Wide anterior fontanel Enlargement of the anterior fontanelle with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Large open anterior fontanel|Wide anterior fontanelle|Large open anterior fontanelle|Large anterior fontanelle|Large anterior fontanel|Large anterior fontanels|Wide open anterior fontanelle|Wider-than-typical soft spot of skull UMLS:C1866134 human_phenotype owl:Class HP:0000239 biolink:NamedThing Large fontanelles In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Large, late-closing fontanelle|Persistent wide fontanel|Large bregma sutures|Large fontanels|Wide bregma sutures|Enlarged fontanelles|Large fontanel|Large fontanelle|Wide fontanelles SNOMEDCT_US:276709006|UMLS:C4072822|UMLS:C0456132|UMLS:C4072821|UMLS:C4072820 There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel). HP:0004473 human_phenotype owl:Class UBERON:0008876 biolink:NamedThing hypodermis skeletal muscle layer Any skeletal muscle organ in the hypodermis / superficial fascia. tmpxe7fu0cj_hp_relaxed.owl hypodermis muscle layer|hypodermal muscle layer|superficial fascia muscular layer|panniculus carnosus EMAPA:18188|MA:0003140 We follow MP and treat this as part of the hypodermis, although some sources may consider the hypodermis to be superficial to this UBERON:0010934 uberon owl:Class PATO:0001580 biolink:NamedThing increased contractility A contractility which is relatively high. tmpxe7fu0cj_hp_relaxed.owl high contractility quality owl:Class UBERON:0003383 biolink:NamedThing cardiac muscle tissue of interventricular septum A portion of cardiac muscle tissue that is part of an interventricular septum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl interventricular septum myocardium|interventricular septum heart muscle|cardiac muscle tissue of interventricular septum|interventricular septum muscle|cardiac muscle of interventricular septum|interventricular septum cardiac muscle FMA:84084|EHDAA2:0004158|EMAPA:17335|VHOG:0000999 uberon owl:Class PATO:0001651 biolink:NamedThing decreased resistance to A resistance to a stimulus which is relatively low. tmpxe7fu0cj_hp_relaxed.owl decreased resistance|low resistance to quality owl:Class HP:0007608 biolink:NamedThing Abnormal palmar dermal ridges tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024833 human_phenotype owl:Class PR:000001865 biolink:NamedThing interleukin-3 receptor class 2 alpha chain A protein that is a translation product of the human IL3RA gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl IL3R|IL-3RA|IL-3R-alpha|IL3RA|IL-3R subunit alpha|CD123|interleukin-3 receptor class II alpha chain|IL-3 receptor subunit alpha|Sut-1 IUPHARobj:1705 Category=gene. Requested by=CL. protein owl:Class UBERON:0010187 biolink:NamedThing female urethral gland An urethral gland that is part of a female urethra. tmpxe7fu0cj_hp_relaxed.owl gland of female urethra|female urethra gland|urethral gland (female) EMAPA:29653|FMA:21444 uberon owl:Class UBERON:0001338 biolink:NamedThing urethral gland Any of the numerous small mucous-secreting glands located in the wall of the male or female urethra that help protect the epithelium from the corrosive urine. tmpxe7fu0cj_hp_relaxed.owl gland of urethra|urethra gland|urethra gland (male or female)|urethral mucuous gland EMAPA:37784|FMA:19683|MA:0001688 uberon owl:Class NCIT:C12339 paraurethral gland belongs here HP:0008361 biolink:NamedThing Corticospinal tract pallor tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024690 human_phenotype owl:Class HP:0009371 biolink:NamedThing Type A1 brachydactyly tmpxe7fu0cj_hp_relaxed.owl UMLS:C1862151|SNOMEDCT_US:715720006|MSH:C537088 doelkens 2009-01-13T10:50:19Z human_phenotype owl:Class HP:0007963 biolink:NamedThing Pattern dystrophy of the retina A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024762 human_phenotype owl:Class HP:0030844 biolink:NamedThing Undetectable pattern electroretinogram Absent response to a pattern electroretinogram (PERG). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280746 owl:Class GO:0002520 biolink:NamedThing immune system development The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:2001015 biolink:NamedThing negative regulation of skeletal muscle cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of skeletal muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-08-11T08:54:41Z biological_process owl:Class GO:2001014 biolink:NamedThing regulation of skeletal muscle cell differentiation Any process that modulates the frequency, rate or extent of skeletal muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-08-11T08:54:37Z biological_process owl:Class NBO:0000419 biolink:NamedThing sleeping behavior phenotype "Observable characteristic of behavior related to the readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-04-07T01:19:38Z George Gkoutos behavior_ontology owl:Class HP:0032394 biolink:NamedThing Mesial parasagittal subcortical heterotopia Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 16:07:29+00:00 This pattern is assocatied with Chudlely-McCullough syndrome. peter owl:Class UBERON:0003450 biolink:NamedThing upper jaw incisor An incisor tooth that is part of a upper jaw [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl incisor tooth of palatoquadrate arch|incisor tooth of upper jaw|upper incisor|incisor of palatoquadrate arch|maxillary incisor tooth|palatoquadrate arch incisor tooth|incisor of upper jaw|premaxillary tooth|palatoquadrate arch incisor|upper jaw incisor tooth UMLS:C1710579|NCIT:C49794|FMA:321754|MA:0001601|EHDAA2:0002121|EMAPA:17939 uberon owl:Class UBERON:2001626 biolink:NamedThing premaxillary tooth Tooth that is attached to the premaxilla. tmpxe7fu0cj_hp_relaxed.owl teleost_anatomy_curators uberon owl:Class This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon HP:0100760 biolink:NamedThing Clubbing of toes Terminal broadening of the toes (distal phalanges of the toes). tmpxe7fu0cj_hp_relaxed.owl Clubbed toes SNOMEDCT_US:53148007|UMLS:C0009081|MSH:D003025|SNOMEDCT_US:249808002|SNOMEDCT_US:397932003|UMLS:C3887489 doelkens 2011-06-07T10:25:26Z human_phenotype owl:Class HP:0032262 biolink:NamedThing Pulmonary tuberculosis A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria. tmpxe7fu0cj_hp_relaxed.owl Pulmonary TB 2019-01-27 19:04:54+00:00 Predisposing factors include poverty, social disruption, malnutrition, different causes of immune suppression, human immunodeficiency virus (HIV) infection, HIV-TB co-infection and increasing drug resistance. peter owl:Class HP:0032260 biolink:NamedThing Opportunistic bacterial infection An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 18:37:49+00:00 peter owl:Class HP:0100426 biolink:NamedThing Broad middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Broad middle 4th toe bone UMLS:C4022101 human_phenotype owl:Class HP:0010195 biolink:NamedThing Broad middle phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Broad middle bones of the toes UMLS:C4023975 doelkens 2009-05-29T01:53:35Z human_phenotype owl:Class UBERON:0004706 biolink:NamedThing bulbus cordis A transient fetal dilation of the distal (or cranial) heart tube located where the arterial trunk joins the ventral roots of the aortic arches. tmpxe7fu0cj_hp_relaxed.owl primitive right ventricle endocardium EHDAA:768|UMLS:C1284055|NCIT:C34114|EHDAA:438|FMA:70300|SCTID:361525002|EHDAA2:0000197|EMAPA:16333|Wikipedia:Bulbus_cordis http://upload.wikimedia.org/wikipedia/commons/c/c9/Gray466.png TODO - check relationship to bulbus arteriosus uberon owl:Class A pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches. The bulbus arteriosus has three distinct layers. Hu et al. 2000.[TAO] GO:0060463 biolink:NamedThing lung lobe morphogenesis The process in which the anatomical structures of a lung lobe are generated and organized. A lung lobe is a projection that extends from the lung. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0003765 biolink:NamedThing Psoriasiform dermatitis A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). tmpxe7fu0cj_hp_relaxed.owl Psoriasis SNOMEDCT_US:9014002|MSH:D011565|UMLS:C0033860 The label Psoriaform dermatitis is used to emphasize that this term is meant to describe the morhpological abnormality of the skin and not all of the manifestations of the disease psoriasis (which can also include itching and nail pitsand other manifestations). owl:Class HP:0100081 biolink:NamedThing Fragmentation of the epiphyses of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the little toe bone|Fragmentation of the end part of the pinkie toe bone|Fragmentation of the end part of the pinky toe bone UMLS:C4022340 doelkens 2010-06-24T10:00:02Z human_phenotype owl:Class GO:0009820 biolink:NamedThing alkaloid metabolic process The chemical reactions and pathways involving alkaloids, nitrogen containing natural products which are not otherwise classified as peptides, nonprotein amino acids, amines, cyanogenic glycosides, glucosinolates, cofactors, phytohormones or primary metabolites (such as purine or pyrimidine bases). tmpxe7fu0cj_hp_relaxed.owl alkaloid metabolism biological_process owl:Class HP:0007906 biolink:NamedThing Ocular hypertension Intraocular pressure that is 2 standard deviations above the population mean. tmpxe7fu0cj_hp_relaxed.owl Elevated intraocular pressure|Elevated IOP|Raised IOP|Increased IOP|Increased intraocular pressure|High eye pressure|Raised intraocular pressure SNOMEDCT_US:112222000|UMLS:C0234708 human_phenotype owl:Class HP:0009463 biolink:NamedThing Ulnar deviation of the 3rd finger Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger). tmpxe7fu0cj_hp_relaxed.owl Ulnar deviation of middle fingers UMLS:C3554614 doelkens 2009-01-15T09:35:47Z HP:0006022|HP:0005865 human_phenotype owl:Class HP:0003460 biolink:NamedThing Decreased circulating total IgA Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L). tmpxe7fu0cj_hp_relaxed.owl Decreased total IgA in blood|Total immunoglobulin A deficiency UMLS:C4025611 human_phenotype owl:Class HP:0002720 biolink:NamedThing Decreased circulating IgA level Decreased levels of immunoglobulin A (IgA). tmpxe7fu0cj_hp_relaxed.owl Decreased IgA|Gamma-A globulin deficiency|IgA deficiency|Decreased immunoglobulin A|Low levels of immunoglobulin A|Reduced IgA levels MSH:D017098|UMLS:C0162538|SNOMEDCT_US:29260007 HP:0005399|HP:0008350|HP:0005431|HP:0005358 human_phenotype owl:Class UBERON:0016611 biolink:NamedThing auditory hillocks, pharyngeal arch 1 derived A collection of protruberances derived from pharyngeal arch 1 that develop into the tragus, crus of the helix, and helix. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0033018 biolink:NamedThing Chronic absent circulating IgD A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured. tmpxe7fu0cj_hp_relaxed.owl Chronic (near) absent IgM in blood peter owl:Class HP:0410245 biolink:NamedThing Decreased circulating IgD An abnormally decreased level of immunoglobulin D (IgD) in blood. tmpxe7fu0cj_hp_relaxed.owl Decreased IgD in blood|Decreased IgD|IgD deficiency 2018-10-12 20:43:37+00:00 owl:Class HP:0033070 biolink:NamedThing Impaired self monitoring Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0018235 biolink:NamedThing capsule of pancreas A capsule that divides the parenchyma of the pancreas into lobes and lobules. tmpxe7fu0cj_hp_relaxed.owl pancreatic capsule uberon owl:Class typically thin but can thicken with age HP:0005461 biolink:NamedThing Craniofacial disproportion tmpxe7fu0cj_hp_relaxed.owl UMLS:C1867114 human_phenotype owl:Class UBERON:0007303 biolink:NamedThing pharyngeal vasculature A vasculature that is part of a chordate pharynx. tmpxe7fu0cj_hp_relaxed.owl branchial vasculature ZFA:0005003|TAO:0005003 uberon owl:Class UBERON:0010700 biolink:NamedThing phalanx pre-cartilage condensation tmpxe7fu0cj_hp_relaxed.owl EMAPA:32720 uberon owl:Class UBERON:0003533 biolink:NamedThing manual digit skin A zone of skin that is part of a finger [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl digit of hand skin|finger skin|hand digit skin|fore limb digit skin|terminal segment of free upper limb digit skin|skin of digit of terminal segment of free upper limb|skin of digitus manus|digit of terminal segment of free upper limb skin|digitus manus skin|skin of terminal segment of free upper limb digit|skin of finger|skin of hand digit|skin of digit of hand NCIT:C52720|MA:0000626|FMA:38304|EMAPA:32648|UMLS:C1708318 uberon owl:Class HP:0031655 biolink:NamedThing Quadricuspid aortic valve The presence of an aortic valve with four instead of the normal three cusps (flaps). tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 15:32:01+00:00 peter owl:Class UBERON:0002405 biolink:NamedThing immune system Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies. tmpxe7fu0cj_hp_relaxed.owl AAO:0011003|ZFA:0001159|MA:0002711|BILA:0000104|SCTID:362590003|VHOG:0001247|GAID:328|UMLS:C0020962|NCIT:C12735|MESH:D007107|BTO:0005810|TAO:0001159|XAO:0003152|OpenCyc:Mx4rvWNkm5wpEbGdrcN5Y29ycA|FMA:9825|Wikipedia:Immune_system uberon owl:Class The antibody-based immune system defined by the presence of the major histocompatibility complex (MHC), T cell receptor (TCR), B cell receptor (BCR) or recombination activating genes (RAGs) is known beginning from jawed fishes.[well established][VHOG] UBERON:0003702 biolink:NamedThing inguinal canal The passage in the lower abdominal wall through which the spermatic cord in the male or the round ligament in the female, nerves and vessels pass from the pelvic cavity to the scrotum or labia majora, respectively. tmpxe7fu0cj_hp_relaxed.owl canalis inguinalis BTO:0005576|GAID:28|EMAPA:37881|MESH:A01.047.412|UMLS:C0021445|NCIT:C93029|FMA:19928 http://upload.wikimedia.org/wikipedia/commons/b/b4/Gray1227.png uberon owl:Class In tammar wallabies, closes between days 50 and 60 pp[DOI:10.1046/j.1469-7580.2002.00087.x]|In most mammals the canal remains open, and the testis can pass from the scrotum to the abdominal cavity. In humans the canal closes after testicular descent[DOI:10.1046/j.1469-7580.2002.00087.x] GO:0035907 biolink:NamedThing dorsal aorta development The progression of the dorsal aorta over time, from its initial formation to the mature structure. The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. tmpxe7fu0cj_hp_relaxed.owl bf 2011-06-24T11:07:01Z biological_process owl:Class GO:0016050 biolink:NamedThing vesicle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. tmpxe7fu0cj_hp_relaxed.owl vesicle organisation|vesicle organization and biogenesis biological_process owl:Class HP:0100214 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the middle bone of the pinky toe|Bracket shaped end part of the middle bone of the pinkie toe|Bracket shaped end part of the middle bone of the little toe UMLS:C4022207 doelkens 2010-06-24T05:04:00Z human_phenotype owl:Class HP:0025486 biolink:NamedThing Fused labia majora The outer labia are sealed together. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 17:00:54+00:00 HPO:probinson owl:Class CHEBI:59644 biolink:NamedThing oxo fatty acid Any fatty acid containing at least one aldehydic or ketonic group in addition to the carboxylic acid group. tmpxe7fu0cj_hp_relaxed.owl oxo fatty acids PMID:6434570|PMID:8454196|PMID:8638935 chebi_ontology owl:Class CHEBI:25754 biolink:NamedThing oxo carboxylic acid Any compound that has an aldehydic or ketonic group as well as a carboxylic acid group in the same molecule. tmpxe7fu0cj_hp_relaxed.owl oxo carboxylic acids|oxo acids chebi_ontology owl:Class HP:0000371 biolink:NamedThing Acute otitis media Acute otitis media is a short and generally painful infection of the middle ear. tmpxe7fu0cj_hp_relaxed.owl Acute middle ear infection SNOMEDCT_US:3110003|UMLS:C0271429 human_phenotype owl:Class HP:0001543 biolink:NamedThing Gastroschisis A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus. tmpxe7fu0cj_hp_relaxed.owl MEDDRA:10018046|SNOMEDCT_US:72951007|UMLS:C0265706|MSH:D020139 human_phenotype owl:Class HP:0005951 biolink:NamedThing Progressive inspiratory stridor tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025096 human_phenotype owl:Class GO:0010605 biolink:NamedThing negative regulation of macromolecule metabolic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0008134 biolink:NamedThing transcription factor binding Binding to a transcription factor, a protein required to initiate or regulate transcription. tmpxe7fu0cj_hp_relaxed.owl TF binding https://github.com/geneontology/go-ontology/issues/19354 Note that this term should not be used for direct annotation. Please consier one of the more specific descendants, GO:0140297 ; DNA-binding transcription factor binding, GO:0140296 ; general transcription initiation factor binding or GO:0001221 ; transcription coregulator binding. molecular_function owl:Class HP:0033490 biolink:NamedThing Glomerular endocapillary foam-cell hypercellularity Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 12:59:28+00:00 peter owl:Class HP:0100432 biolink:NamedThing Broad distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Broad outermost bone of the 4th toe|Wide outermost bone of the 4th toe UMLS:C4022095 human_phenotype owl:Class HP:0010372 biolink:NamedThing Broad phalanges of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Broad bones of the 4th toe UMLS:C4023874 doelkens 2009-07-16T11:51:46Z human_phenotype owl:Class UBERON:0008115 biolink:NamedThing surface of cartilage An anatomical surface that is part of a cartilage element. tmpxe7fu0cj_hp_relaxed.owl cartilage surface FMA:76668 uberon owl:Class CHEBI:36887 biolink:NamedThing 18-oxo steroid tmpxe7fu0cj_hp_relaxed.owl 18-oxo steroids chebi_ontology owl:Class HP:0006568 biolink:NamedThing Increased hepatic glycogen content An increase in the amount of glycogen stored in hepatocytes compared to normal. tmpxe7fu0cj_hp_relaxed.owl Increased liver glycogen content UMLS:C1856285 Glycogen acts as secondary long-term energy storage in the liver and other organs. Its intracellular concentration can be increased in some disease states such as obesity. human_phenotype owl:Class HP:0500030 biolink:NamedThing Abnormal hepatic glycogen storage Change in normal glycogen storage content. tmpxe7fu0cj_hp_relaxed.owl 2017-06-01 16:35:52+00:00 ORCID:0000-0001-7941-2961 owl:Class UBERON:0002208 biolink:NamedThing sternebra One of the bony segments of the sternum[TFD]. tmpxe7fu0cj_hp_relaxed.owl sternebral bone MA:0001333|EMAPA:18724|FMA:7489 Note that some definitions state that this a segment of the primordial sternum. http://upload.wikimedia.org/wikipedia/commons/1/12/Illu_thoracic_cage.jpg uberon owl:Class HP:0008261 biolink:NamedThing Pancreatic islet cell adenoma The presence of an adenoma of the pancreas with origin in a pancreatic B cell. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851697 human_phenotype owl:Class HP:0100691 biolink:NamedThing Abnormality of the curvature of the cornea tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021995 doelkens 2011-02-18T04:58:48Z human_phenotype owl:Class GO:0048515 biolink:NamedThing spermatid differentiation tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0012561 biolink:NamedThing Unicuspid aortic valve The presence of an aortic valve with one instead of the normal three cusps (flaps). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:253610004|UMLS:C0345001 The aortic valve normally has three cusps (flaps), that is, it is normally tricuspid. Unicuspid aortic valve (UAV) shares many of the features of bicuspid aortic valve, including valvular dysfunction, aortic dilatation, aortic dissection, and dystrophic calcification, although these conditions develop at an earlier age and progress at a faster pace in UAV. peter 2014-01-08T08:14:15Z human_phenotype owl:Class UBERON:0006984 biolink:NamedThing anatomical surface A two dimensional anatomical structure that is the boundary between an anatomical structure and an anatomical substance, an anatomical space or the organism's environment. Examples include the surface of your skin, the surface of the lining of your gut; the surface of the endothelium of you aorta that is in contact with blood.n. tmpxe7fu0cj_hp_relaxed.owl FMA:24137|EHDAA2_RETIRED:0003192|BILA:0000010|CARO:0001002|UMLS:C1515977|NCIT:C34022 Old definition: 'Non-material anatomical entity of two dimensions, that is demarcated by anatomical lines or points on the external or internal surfaces of anatomical structures.' Note, in the new definition, the space referred to is not necessarily an anatomical space. It may be the outside of an organism. uberon owl:Class UBERON:0010199 biolink:NamedThing bona-fide anatomical boundary An anatomical boundary that corresponds to some physical discontinuity. tmpxe7fu0cj_hp_relaxed.owl CARO:0001004 One might argue that all boundaries are actually fiat in the sense that there must be some fiat element at a fine enough scale of granularity. This ontology choses to ignore this issue as below the level of granularity relevant to anatomy. (DOS121102) uberon owl:Class UBERON:0013424 biolink:NamedThing anatomical point connecting sagittal and lambdoidal sutures The occipital angle is rounded and corresponds with the point of meeting of the sagittal and lambdoidal sutures-a point which is termed the lambda (after the Greek letter of the same name); in the fetus this part of the skull is membranous, and is called the posterior fontanelle. tmpxe7fu0cj_hp_relaxed.owl posterior fontanelle|lambda FMA:264773 http://upload.wikimedia.org/wikipedia/commons/5/50/Gray1193.svg uberon owl:Class HP:0010054 biolink:NamedThing Abnormality of the first metatarsal bone An anomaly of the first metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the 1st long bone of foot UMLS:C4024082 In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the first metatarsal. doelkens 2009-05-29T11:49:54Z human_phenotype owl:Class HP:0400007 biolink:NamedThing Polymenorrhea Frequent menses; menstrual cycles lasting less than 21 days. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0032519|MSH:D008599|SNOMEDCT_US:52754008 owl:Class GO:0010966 biolink:NamedThing regulation of phosphate transport Any process that modulates the frequency, rate or extent of phosphate transport. Phosphate transport is the directed movement of phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl tb 2009-05-20T11:42:50Z biological_process owl:Class HP:0033857 biolink:NamedThing Intraluminal thrombi within interlobular veins Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-02 19:06:12+00:00 peter owl:Class HP:0033855 biolink:NamedThing Abnormal interlobular vein lumen morphology Any structural anomaly located in the the inside space of the interlobular veins of the kidney. tmpxe7fu0cj_hp_relaxed.owl Abnormal morphology of the interlobular vein lumen 2021-06-02 19:00:07+00:00 peter owl:Class UBERON:0007778 biolink:NamedThing umbilical artery endothelium An endothelium that is part of a umbilical artery. tmpxe7fu0cj_hp_relaxed.owl BTO:0000857 uberon owl:Class HP:0100737 biolink:NamedThing Abnormal hard palate morphology tmpxe7fu0cj_hp_relaxed.owl Abnormality of the hard palate|Abnormality of the secondary palate UMLS:C4021983 doelkens 2011-06-06T05:42:10Z human_phenotype owl:Class HP:0040239 biolink:NamedThing Increased plasma vitamin K epoxide after vitamin K supplementation Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280708 This term has been requested and created by members of the BRIDGE consortium owl:Class GO:1904944 biolink:NamedThing positive regulation of cardiac ventricle formation Any process that activates or increases the frequency, rate or extent of cardiac ventricle formation. tmpxe7fu0cj_hp_relaxed.owl activation of cardiac ventricle formation|up regulation of cardiac ventricle formation|upregulation of cardiac ventricle formation|up-regulation of cardiac ventricle formation bc 2016-02-02T16:37:31Z biological_process owl:Class HP:0005557 biolink:NamedThing Abnormality of the zygomatic arch An abnormality of the zygomatic arch, also known as the cheek bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the malar arch|Malformation of the zygomatic arch|Deformity of the malar arch|Deformity of the zygomatic arch|Anomaly of the malar arch|Anomaly of the zygomatic arch|Malformation of the malar arch UMLS:C4025179 The zygomatic arch is formed by the zygomatic process of temporal bone and the temporal process of the zygomatic bone. peter 2008-03-27T10:20:00Z human_phenotype owl:Class HP:0010668 biolink:NamedThing Abnormality of the zygomatic bone An abnormality of the zygomatic bone. tmpxe7fu0cj_hp_relaxed.owl Malformation of the zygomatic bone|Anomaly of the zygomatic bone|Deformity of the zygomatic bone|Deformity of the cheekbone|Abnormality of the cheekbone UMLS:C4023749 peter 2010-02-26T08:13:11Z human_phenotype owl:Class HP:0001017 biolink:NamedThing Anemic pallor A type of pallor that is secondary to the presence of anemia. tmpxe7fu0cj_hp_relaxed.owl Anaemic pallor UMLS:C4025811 human_phenotype owl:Class HP:0100642 biolink:NamedThing Neoplasm of the adrenal medulla The presence of a neoplasm of the adrenal medulla. tmpxe7fu0cj_hp_relaxed.owl Medullar adrenal neoplasia UMLS:C0596046|SNOMEDCT_US:127023007|NCIT:C3262 doelkens 2010-12-29T05:54:15Z human_phenotype owl:Class HP:0030377 biolink:NamedThing Increased proportion of immature B cells An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). tmpxe7fu0cj_hp_relaxed.owl Increased proportion of CD19+/CD21low B cells UMLS:C4072916 owl:Class CL:0010001 biolink:NamedThing stromal cell of bone marrow A stromal cell that is part_of a bone marrow. tmpxe7fu0cj_hp_relaxed.owl bone marrow stromal cell GOC:cjm owl:Class CL:0002092 biolink:NamedThing bone marrow cell A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. tmpxe7fu0cj_hp_relaxed.owl BTO:0004850|FMA:83621 MH consider whether bone marrow cells are bone cells in the structural sense vs. being part of bone organ sense. tmeehan 2010-07-22T04:48:15Z cell owl:Class HP:0033521 biolink:NamedThing Nasal dryness A lack of humidification of the nasal mucosa. tmpxe7fu0cj_hp_relaxed.owl 2021-01-14 12:33:47+00:00 A dry nose can be associated with multiple causes, for example an underlying disease, medication or age-related changes in nasal physiology and structure. peter owl:Class HP:0000433 biolink:NamedThing Abnormal nasal mucosa morphology tmpxe7fu0cj_hp_relaxed.owl Abnormality of mucosa of nose|Abnormality of mucous membrane of nose|Abnormality of nasal mucous membrane|Abnormality of the nasal mucosa UMLS:C4025854 owl:Class HP:0100471 biolink:NamedThing Symphalangism affecting the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Fused middle bones of 4th toe UMLS:C4022056 human_phenotype owl:Class HP:0033102 biolink:NamedThing Monkey wrench femoral neck The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle. tmpxe7fu0cj_hp_relaxed.owl Monkey wrench configuration of the proximal femur|Swedish key appearance of femoral neck|Monkey wrench appearance of femoral neck|Swedish key configuration of the proximal femur peter owl:Class UBERON:0003933 biolink:NamedThing cranial cartilage A cartilage element that is part of the cranial skeleton. tmpxe7fu0cj_hp_relaxed.owl cranial cartilages|cartilage of cranium|cranium cartilage ZFA:0001458|TAO:0001458 uberon owl:Class Cartilage which is part of the cranium.[TAO] GO:0098840 biolink:NamedThing protein transport along microtubule The directed movement of a protein along a microtubule, mediated by motor proteins. tmpxe7fu0cj_hp_relaxed.owl microtubule-based protein transport biological_process owl:Class HP:0025128 biolink:NamedThing Reduced intraabdominal adipose tissue An abnormally reduced amount of adipose tissue in the abdominal cavity. tmpxe7fu0cj_hp_relaxed.owl 2016-11-14 02:33:27+00:00 HPO:probinson owl:Class HP:0040063 biolink:NamedThing Decreased adipose tissue tmpxe7fu0cj_hp_relaxed.owl Decreased fat tissue UMLS:C4022459 HPO:skoehler owl:Class HP:0025709 biolink:NamedThing Intermediate young adult onset Onset of disease at an age of greater than or equal to 19 to under 25 years. tmpxe7fu0cj_hp_relaxed.owl This term includes the full 19th year of age up to the completed 25th year of age (i.e., less than the 25th birthday). peterrobinson owl:Class CHEBI:37024 biolink:NamedThing 2-aminoadipic acid An alpha-amino acid that is adipic acid bearing a single amino substituent at position 2. An intermediate in the formation of lysine. tmpxe7fu0cj_hp_relaxed.owl alpha-aminoadipic acid|2-aminoadipic acid|aminoadipic acid|alpha-Aminoadipic acid|DL-2-Aminohexanedioic acid|(+/-)-2-Aminoadipic acid|Aad|DL-alpha-Aminoadipic acid|DL-2-Aminoadipic acid|2-aminohexanedioic acid 0 C6H11NO4 InChI=1S/C6H11NO4/c7-4(6(10)11)2-1-3-5(8)9/h4H,1-3,7H2,(H,8,9)(H,10,11) OYIFNHCXNCRBQI-UHFFFAOYSA-N 161.15588 161.06881 NC(CCCC(O)=O)C(O)=O PMID:22264337|CAS:542-32-5|PMID:6462455|Beilstein:1773077|PMID:31148|Wikipedia:Alpha-Aminoadipic_acid|HMDB:HMDB0000510|Reaxys:1724349|Beilstein:1724349 CHEBI:64698 chebi_ontology owl:Class GO:0007275 biolink:NamedThing multicellular organism development The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/21234 Note that this term was 'developmental process'. biological_process owl:Class HP:0004699 biolink:NamedThing Osteoporotic metatarsal Decrease in mass and density of the metatarsal bones. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1836873 human_phenotype owl:Class GO:0060612 biolink:NamedThing adipose tissue development The process whose specific outcome is the progression of adipose tissue over time, from its formation to the mature structure. Adipose tissue is specialized tissue that is used to store fat. tmpxe7fu0cj_hp_relaxed.owl adipogenesis dph 2009-05-15T12:36:28Z biological_process owl:Class GO:0061448 biolink:NamedThing connective tissue development The progression of a connective tissue over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl dph 2012-03-22T12:53:41Z biological_process owl:Class HP:0007515 biolink:NamedThing Hypoplastic pilosebaceous units tmpxe7fu0cj_hp_relaxed.owl UMLS:C1832454 human_phenotype owl:Class GO:0021885 biolink:NamedThing forebrain cell migration The orderly movement of a cell from one site to another at least one of which is located in the forebrain. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0023056 biolink:NamedThing positive regulation of signaling Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of signalling process|positive regulation of signaling process 2010-02-16T09:30:50Z biological_process owl:Class GO:0002233 biolink:NamedThing leukocyte chemotaxis involved in immune response The movement of an immune cell in response to an external stimulus a part of an immune response. tmpxe7fu0cj_hp_relaxed.owl immune cell chemotaxis during immune response|leucocyte chemotaxis during immune response biological_process owl:Class HP:0031323 biolink:NamedThing Myocardial eosinophilic infiltration An increase in the number of eosinophils in myocardial tissue. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 12:08:48+00:00 peter owl:Class UBERON:0004998 biolink:NamedThing mucosa of pylorus A mucosa that is part of a pylorus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucosa of organ of stomach pyloric region|mucosa of stomach pyloric region|organ mucosa of pylorus|pyloric part of stomach organ mucosa|mucosa of pyloric part of stomach|antropyloric mucosa|stomach pyloric region mucosa|pyloric part of stomach mucosa|stomach pyloric region mucous membrane|mucous membrane of pyloric part of stomach|mucous membrane of stomach pyloric region|pylorus mucosa of organ|pyloric part of stomach mucous membrane|organ mucosa of stomach pyloric region|mucous membrane of pylorus|organ mucosa of pyloric part of stomach|pylorus mucosa|pylorus organ mucosa|pylorus mucous membrane|stomach pyloric region mucosa of organ|mucosa of organ of pylorus|mucosa of organ of pyloric part of stomach|pyloric part of stomach mucosa of organ|stomach pyloric region organ mucosa FMA:17461|EMAPA:27199|BTO:0004110 uberon owl:Class UBERON:0001199 biolink:NamedThing mucosa of stomach The mucosal layer that lines the stomach. tmpxe7fu0cj_hp_relaxed.owl ventriculus mucosa|mucous membrane of stomach|mucous membrane of ventriculus|Magenschleimhaut|tunica mucosa gastris|stomach mucosa of organ|stomach mucous membrane|gastric mucous membrane|tunica mucosa (gaster)|organ mucosa of stomach|stomach mucosa|organ mucosa of ventriculus|ventriculus organ mucosa|ventriculus mucosa of organ|mucosa of organ of ventriculus|gastric mucosa|tunica mucosa gastricae|ventriculus mucous membrane|stomach organ mucosa|mucosa of organ of stomach|mucosa of ventriculus UMLS:C0017136|SCTID:362131005|NCIT:C32656|CALOHA:TS-0404|galen:GastricMucosa|EMAPA:35817|MESH:A03.492.766.440|GAID:321|BTO:0001308|FMA:14907|MA:0002683|OpenCyc:Mx8NhB4rvcD6KJwpEbGdrcN5Y29ycB4rvmKNOpwpEbGdrcN5Y29ycB4rvVj5FpwpEbGdrcN5Y29ycB4rvVjlqpwpEbGdrcN5Y29ycA|Wikipedia:Gastric_mucosa Wikipedia:File:Normal_gastric_mucosa_intermed_mag.jpg uberon owl:Class The gastric mucosa is the mucous membrane layer of the stomach which contains the glands and the gastric pits. In men it is about 1 mm thick and its surface is smooth, soft, and velvety. It consists of epithelium, lamina propria, and the muscularis mucosae. In its fresh state, it is of a pinkish tinge at the pyloric end and of a red or reddish-brown color over the rest of its surface. In infancy it is of a brighter hue, the vascular redness being more marked. It is thin at the cardiac extremity, but thicker toward the pylorus. During the contracted state of the organ it is thrown into numerous plaits or rugae, which, for the most part, have a longitudinal direction, and are most marked toward the pyloric end of the stomach, and along the greater curvature. These folds are entirely obliterated when the organ becomes distended. When examined with a lens, the inner surface of the mucous membrane presents a peculiar honeycomb appearance from being covered with funnel-like depressions or foveolae of a polygonal or hexagonal form, which vary from 0.12 to 0.25 mm. in diameter. These are the ducts of the gastric glands, and at the bottom of each may be seen one or more minute orifices, the openings of the gland tubes. Gastric glands are simple or branched tubular glands that emerge on the deeper part of the gastric foveola, inside the gastric areas and outlined by the folds of the mucosa. There are three types of glands: cardiac glands (in the proximal part of the stomach), oxyntic glands (the dominating type of gland), and pyloric glands. The cardiac glands mainly contain mucus producing cells. The bottom part of the oxyntic glands is dominated by zymogen (chief) cells that produce pepsinogen (an inactive precursor of the pepsin enzyme). Parietal cells, which secrete hydrochloric acid are scattered in the glands, with most of them in the middle part. The upper part of the glands consist of mucous neck cells; in this part the dividing cells are seen. The pyloric glands contain mucus-secreting cells. Several types of endocrine cells are found in all regions of the gastric mucosa. In the pyloric glands contain gastrin producing cells (G cells); this hormone stimulates acid production from the parietal cells. ECL (enterochromaffine-like) cells, found in the oxyntic glands release histamine, which also is a powerful stimulant of the acid secretion. The A cells produce glucagon, which mobilizes the hepatic glycogen, and the enterochromaffin cells that produce serotonin, which stimulates the contraction of the smooth muscles. The surface of the mucous membrane is covered by a single layer of columnar epithelium . This epithelium commences very abruptly at the cardiac orifice, where there is a sudden transition from the stratified epithelium of the esophagus. The epithelial lining of the gland ducts is of the same character and is continuous with the general lining of the stomach. [WP,unvetted][Wikipedia:Gastric_mucosa]. PATO:0001619 biolink:NamedThing decreased tonicity A tonicity which is relatively low. tmpxe7fu0cj_hp_relaxed.owl low tonicity quality owl:Class PATO:0001439 biolink:NamedThing tonicity A contractile quality inhering in a bearer by virtue of the bearer's elastic tension that facilitate response to stimuli. tmpxe7fu0cj_hp_relaxed.owl tone TODO: we need a clearer differentium between this and contractility - or merge? PATO:0001498 quality owl:Class UBERON:0011869 biolink:NamedThing pisiform joint tmpxe7fu0cj_hp_relaxed.owl articulatio ossis pisiformis FMA:73126 Wikipedia says pisiform and triquetral- todo check pisotriquetral uberon owl:Class GO:0006949 biolink:NamedThing syncytium formation The formation of a syncytium, a mass of cytoplasm containing several nuclei enclosed within a single plasma membrane. Syncytia are normally derived from single cells that fuse or fail to complete cell division. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:7500044 biolink:NamedThing line from tip of nose to the posterior-most part of the last caudal vertebra An anatomical line of a body that connects the tip of the nose to the posterior-most part of a tail. tmpxe7fu0cj_hp_relaxed.owl https://orcid.org/0000-0003-2699-3066 uberon owl:Class UBERON:0006800 biolink:NamedThing anatomical line Non-material anatomical entity of one dimension, which forms a boundary of an anatomical surface or is a modulation of an anatomical surface. tmpxe7fu0cj_hp_relaxed.owl CARO:0000008|TGMA:0001828|HAO:0000008|XAO:0004003|AAO:0010267|TAO:0001837|ZFA:0001689|AEO:0000008|FMA:9657|EHDAA2:0003008|BILA:0000008 uberon owl:Class HP:4000026 biolink:NamedThing Anti-transglutaminase 6 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 14:46:46+00:00 robinp owl:Class HP:0033563 biolink:NamedThing Anti-tissue transglutaminase antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase. tmpxe7fu0cj_hp_relaxed.owl Anti-tTG antibody positivity 2021-01-23 12:45:46+00:00 peter owl:Class HP:0005266 biolink:NamedThing Intestinal polyp A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. tmpxe7fu0cj_hp_relaxed.owl Intestinal polyps MSH:D007417|SNOMEDCT_US:254588001|UMLS:C0021846 peter 2008-03-26T04:46:00Z human_phenotype owl:Class UBERON:0009846 biolink:NamedThing embryonic cloacal epithelium An epithelium that is part of a embryonic cloaca. tmpxe7fu0cj_hp_relaxed.owl cloacal epithelium EHDAA2:0004585 uberon owl:Class HP:0025094 biolink:NamedThing Disciform macular scar A subretinal scar with a disc-like shape in the region of the macula. tmpxe7fu0cj_hp_relaxed.owl 2016-10-24 01:29:42+00:00 HPO:probinson owl:Class HP:0200056 biolink:NamedThing Macular scar Scar tissue in the macula. tmpxe7fu0cj_hp_relaxed.owl Macular scarring UMLS:C0423428|SNOMEDCT_US:18410006 sebastiankohler 2012-11-18T11:09:09Z HP:0007949 human_phenotype owl:Class HP:5000042 biolink:NamedThing Anti-Sj/ITPR1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor. tmpxe7fu0cj_hp_relaxed.owl Anti-Sj/inositol 1,4,5-trisphosphate receptor antibody ORCID:0000-0002-3387-1836 owl:Class UBERON:0007272 biolink:NamedThing pectoral appendage skeleton Skeletal subdivision consisting of the anterior appendicular limb skeleton, excluding the pectoral girdle. tmpxe7fu0cj_hp_relaxed.owl cheiropterygium VSAO:0005000 uberon owl:Class UBERON:0012418 biolink:NamedThing respiratory system venous smooth muscle A smooth muscle tissue that is part of a respiratory system venous blood vessel. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37586|MA:0001812 uberon owl:Class UBERON:0004696 biolink:NamedThing venous system smooth muscle A portion of smooth muscle tissue that is part of a venous system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl MA:0000715|EMAPA:36613 uberon owl:Class UBERON:0002216 biolink:NamedThing symphysis Cartilaginous joint in which the articulating bones or cartilages are connected by fibrocartilage. Examples: pubic symphysis, intervertebral symphysis, manubriosternal joint.[FMA]. tmpxe7fu0cj_hp_relaxed.owl secondary cartilaginous joint MA:0001504|SCTID:1584001|Wikipedia:Symphysis|EMAPA:37758|FMA:7498 http://upload.wikimedia.org/wikipedia/commons/b/b1/Gray298.png consider adding fibrocartilage class uberon owl:Class UBERON:0006325 biolink:NamedThing laryngeal intrinsic ligament tmpxe7fu0cj_hp_relaxed.owl intrinsic ligament of larynx FMA:72058|MA:0001757|EMAPA:37628 uberon owl:Class UBERON:0001647 biolink:NamedThing facial nerve Cranial nerve that branches into the supraorbital (supplying the skin of the eye region and the lateral line organs here), the palatine (to the roof of the buccal cavity), and the hyomandibular (dividing into the jugular and mental branches). tmpxe7fu0cj_hp_relaxed.owl branchiomeric cranial nerve|facial VII nerve|nervus facialis|facial nerve/root|nerve VII|cranial nerve VII|nerve of face|seventh cranial nerve|facial nerve or its root|nervus facialis [vii]|CN-VII|face nerve|facial nerve [VII]|7n|facial VII|facial nerve tree MESH:D005154|UMLS:C0015462|ZFA:0000664|MBA:798|EHDAA2:0000489|OpenCyc:Mx4rvthgEpwpEbGdrcN5Y29ycA|BIRNLEX:827|VHOG:0000706|BAMS:VIIn|GAID:719|EMAPA:17796|BAMS:7n|XAO:0003094|NCIT:C12714|TAO:0000664|BM:Pons-VIIN|EHDAA:3729|HBA:9328|BAMS:nVII|MA:0001091|FMA:50868|AAO:0010472|BAMS:Viin|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=551 http://upload.wikimedia.org/wikipedia/commons/1/1f/Cranial_nerve_VII.svg uberon owl:Class Slender nerve composed of branchiomotor and visceral efferent fibers innervating the mouth and various muscles within the jaw. Sensory components innervate the bucccal roof and somatomotor components innervate the depressor musculature and muscle interhyoideus.[AAO] We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...) (reference 1); Phylogenetically, the cranial nerves are thought to have evolved from dorsal and ventral nerves of a few anterior spinal nerves that became incorporated into the braincase. Dorsal and ventral nerves fuse in the trunk but not in the head, and they produce two series: dorsal cranial nerves (V, VII, IX, and X) and ventral cranial nerves (III, IV, VI, and XIII) (reference 2).[well established][VHOG] UBERON:0007828 biolink:NamedThing girdle bone/zone A bone that is part of a appendage girdle region. tmpxe7fu0cj_hp_relaxed.owl girdle bone EMAPA:35379|MA:0000291 uberon owl:Class HP:0500045 biolink:NamedThing Collier's sign A unilateral or bilateral eyelid retraction due to midbrain lesions. tmpxe7fu0cj_hp_relaxed.owl 2018-02-05 16:48:13+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0500044 biolink:NamedThing Upper eyelid retraction An elevation of the eyelid above the normal level in the primary position. tmpxe7fu0cj_hp_relaxed.owl 2018-02-05 16:39:46+00:00 ORCID:0000-0001-7941-2961 owl:Class GO:0097324 biolink:NamedThing melanocyte migration The orderly movement of melanocytes from one site to another, often during the development of a multicellular organism. A melanocyte is a pigment cell derived from the neural crest. It contains melanin-filled pigment granules, which give a brown to black appearance. tmpxe7fu0cj_hp_relaxed.owl pr 2012-06-08T10:08:18Z biological_process owl:Class GO:0010631 biolink:NamedThing epithelial cell migration The orderly movement of an epithelial cell from one site to another, often during the development of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0002495 biolink:NamedThing Impaired vibratory sensation A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. tmpxe7fu0cj_hp_relaxed.owl Impaired vibratory sense|Diminished vibratory sense|Decreased vibratory sense|Hypopallesthesia|Decreased vibration sense|Impaired vibratory sensation SNOMEDCT_US:130980003|UMLS:C1295585 Impaired vibratory sensation may suggesti involvement of the posterior column-medial lemniscus pathway, which is responsible for transmitting fine touch, vibration and conscious proprioceptive information from the body to the cerebral cortex. HP:0007116|HP:0006836 owl:Class UBERON:0006653 biolink:NamedThing glans clitoris Erectile tissue at the end of the clitoris, which is continuous with the intermediate part of the vestibulovaginal bulbs[BTO]. The clitoral glans (glans clitoridis) is an external portion of the clitoris[WP]. tmpxe7fu0cj_hp_relaxed.owl glans clitoris|glans of clitoris|clitoris glans|glans clitoridis BTO:0003117|UMLS:C0227769|EMAPA:19170|NCIT:C32681|EMAPA:30829|FMA:19999 http://upload.wikimedia.org/wikipedia/commons/8/8c/Clitoris_inner_anatomy.gif uberon owl:Class UBERON:0001720 biolink:NamedThing cochlear nucleus Any of the nuclei of the cochlear nuclear complex. tmpxe7fu0cj_hp_relaxed.owl cochlear nucleus of acoustic nerve|nucleus of cochlear nerve|cochlear nucleus of eighth cranial nerve|vestibulocochlear nucleus|statoacoustic (VIII) nucleus|cochlear VIII nucleus ZFA:0001638|EMAPA:35248|FMA:54603|GAID:601|TAO:0002243|NCIT:C12837|MESH:D017626|MA:0001012 http://upload.wikimedia.org/wikipedia/commons/5/52/Gray691.png uberon owl:Class GO:0098871 biolink:NamedThing postsynaptic actin cytoskeleton The actin cytoskeleton that is part of a postsynapse. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:0015629 biolink:NamedThing actin cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class UBERON:0009624 biolink:NamedThing lumbar nerve The lumbar nerves are the five spinal nerves emerging from the lumbar vertebrae. They are divided into posterior and anterior divisions. tmpxe7fu0cj_hp_relaxed.owl nervi lumbales|nervus lumbalis|lumbar spinal nerve NCIT:C33015|UMLS:C0228897|FMA:5861 http://upload.wikimedia.org/wikipedia/commons/d/d1/Gray802.png uberon owl:Class UBERON:0001780 biolink:NamedThing spinal nerve The any of the paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment[MP,modified]. tmpxe7fu0cj_hp_relaxed.owl nerve of vertebral column|nerve of spinal column|spinal column nerve|vertebral column nerve|nerve of spine|nerve of backbone|spine nerve|spinal nerve tree|backbone nerve|nervi spinales|spinal nerves AAO:0011101|UMLS:C0037941|XAO:0003101|FMA:5858|GAID:841|BAMS:spin|Wikipedia:Spinal_nerve|MESH:D013127|MA:0000233|EHDAA2:0001898|OpenCyc:Mx4rwK_iFJwpEbGdrcN5Y29ycA|SCTID:361099009|NCIT:C12792|VHOG:0000824|EMAPA:16989|BTO:0000870|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1228 Spinal:nerve.svg uberon owl:Class Any of the paired nerves emerging from the spinal cord, each attached to the cord by two roots: ventral and dorsal, and passing out between the vertebrae. [TFD][VHOG] HP:0032200 biolink:NamedThing Perivascular fibrosis The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern. tmpxe7fu0cj_hp_relaxed.owl 2019-01-20 11:05:59+00:00 peter owl:Class HP:0030136 biolink:NamedThing Enhanced ristocetin cofactor assay activity Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022612 This abnormality is characteristic of type 2B von Willibrand disease. owl:Class CHEBI:137682 biolink:NamedThing methylhistidine tmpxe7fu0cj_hp_relaxed.owl methylhistidines chebi_ontology owl:Class CHEBI:24599 biolink:NamedThing histidine derivative An amino acid derivative resulting from reaction of histidine at the amino group or the carboxy group, or from the replacement of any hydrogen of histidine by a heteroatom. The definition normally excludes peptides containing alanine residues. tmpxe7fu0cj_hp_relaxed.owl histidine derivatives chebi_ontology owl:Class GO:0090032 biolink:NamedThing negative regulation of steroid hormone biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0009816 biolink:NamedThing Lower limb undergrowth Leg shortening because of underdevelopment of one or more bones of the lower extremity. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia involving bones of the lower limbs|Lower limb undergrowth|Underdeveloped lower limb bones|Hypoplasia of the lower limbs UMLS:C0345371|SNOMEDCT_US:253959002 doelkens 2009-02-23T05:09:32Z HP:0003087|HP:0006399|HP:0005884 human_phenotype owl:Class HP:0009826 biolink:NamedThing Limb undergrowth Limb shortening because of underdevelopment of one or more bones of the extremities. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia involving bones of the extremities|Limb undergrowth|limb shortening|Short limb|Short limbs UMLS:C0239399 doelkens 2009-02-23T05:16:44Z HP:0005049|HP:0005057|HP:0003058 human_phenotype owl:Class HP:0030145 biolink:NamedThing Lack of bowel sounds Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope. tmpxe7fu0cj_hp_relaxed.owl Lack of bowel sounds UMLS:C4022606 This feature reflects lack of intestinal activity. owl:Class HP:0030142 biolink:NamedThing Abnormal bowel sounds An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis. tmpxe7fu0cj_hp_relaxed.owl Abnormal bowel sounds UMLS:C0159060|SNOMEDCT_US:60612008 owl:Class HP:0100185 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the middle bone of the 4th toe UMLS:C4022236 doelkens 2010-06-24T04:54:13Z human_phenotype owl:Class UBERON:0006717 biolink:NamedThing autopodial skeleton The collection of all skeletal elements in an autopodium region. tmpxe7fu0cj_hp_relaxed.owl skeletal parts of autopod|autopodial skeleton|autopod skeleton|autopodium|skeleton of autopod VSAO:0005019 uberon owl:Class Distal section of the limb skeleton, consisting of the anterior autopodium or posterior autopodium.[VSAO] Naming conventions for pod terms under discussion within phenoscape group HP:0011370 biolink:NamedThing Recurrent cutaneous fungal infections Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023394 peter 2012-03-03T10:34:52Z human_phenotype owl:Class HP:0001581 biolink:NamedThing Recurrent skin infections Infections of the skin that happen multiple times. tmpxe7fu0cj_hp_relaxed.owl Cutaneous infections|Skin infections, recurrent|Recurrent skin infections UMLS:C1853193 HP:0007563 human_phenotype owl:Class GO:0042053 biolink:NamedThing regulation of dopamine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving dopamine. tmpxe7fu0cj_hp_relaxed.owl regulation of dopamine metabolism biological_process owl:Class HP:0006693 biolink:NamedThing Myocardial steatosis Steatosis in the myocardium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025000 human_phenotype owl:Class HP:0001713 biolink:NamedThing Abnormal cardiac ventricle morphology An abnormality of a cardiac ventricle. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cardiac ventricle UMLS:C4025752 owl:Class HP:0001469 biolink:NamedThing Abnormal morphology of the pelvis musculature tmpxe7fu0cj_hp_relaxed.owl Abnormality of the musculature of the pelvis UMLS:C4025768 peter 2008-04-07T10:55:00Z human_phenotype owl:Class GO:0110110 biolink:NamedThing positive regulation of animal organ morphogenesis Any process that activates or increases the frequency, rate or extent of animal organ morphogenesis. tmpxe7fu0cj_hp_relaxed.owl kmv 2018-07-05T14:10:14Z biological_process owl:Class HP:0012659 biolink:NamedThing Prefrontal hypometabolism in FDG PET Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022797 Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the prefrontal cortex. peter 2014-02-15T11:33:12Z human_phenotype owl:Class HP:0012658 biolink:NamedThing Abnormal brain FDG positron emission tomography An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity. tmpxe7fu0cj_hp_relaxed.owl Abnormal brain FDG PET scan UMLS:C4022798 peter 2014-02-15T11:29:38Z human_phenotype owl:Class GO:0060428 biolink:NamedThing lung epithelium development The biological process whose specific outcome is the progression of the lung epithelium from an initial condition to its mature state. This process begins with the formation of lung epithelium and ends with the mature structure. The lung epithelium is the specialized epithelium that lines the inside of the lung. tmpxe7fu0cj_hp_relaxed.owl pulmonary epithelium development biological_process owl:Class HP:0031225 biolink:NamedThing Intrapulmonary shunt Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs. tmpxe7fu0cj_hp_relaxed.owl Intrapulmonary shunting 2017-07-02 12:12:01+00:00 Intrapulmonary shunt may be a result of blood flow through collapsed alveoli, tumors, arteriovenous pathways,and other conditions. peter owl:Class GO:0000280 biolink:NamedThing nuclear division The division of a cell nucleus into two nuclei, with DNA and other nuclear contents distributed between the daughter nuclei. tmpxe7fu0cj_hp_relaxed.owl karyokinesis biological_process owl:Class GO:0048285 biolink:NamedThing organelle fission The creation of two or more organelles by division of one organelle. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0012320 biolink:NamedThing Absent pigmentation of the limbs Lack of skin pigmentation (coloring) of the arms and legs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022955 peter 2013-08-10T08:22:30Z human_phenotype owl:Class HP:0200098 biolink:NamedThing Absent skin pigmentation Lack of skin pigmentation (coloring). tmpxe7fu0cj_hp_relaxed.owl Absent skin pigmentation|Lack of skin coloration UMLS:C2673954 sebastiankohler 2013-06-05T10:22:18Z human_phenotype owl:Class GO:0070444 biolink:NamedThing oligodendrocyte progenitor proliferation The multiplication or reproduction of oligodendrocyte progenitor cells by cell division, resulting in the expansion of their population. Oligodendrocyte progenitors give rise to oligodendrocytes, which form the insulating myelin sheath of axons in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl oligodendrocyte precursor proliferation biological_process owl:Class UBERON:0002422 biolink:NamedThing fourth ventricle Part of the ventricular system of the brain, forming a single large irregularly shaped cavity located on the midline of the rhombencephalon, between the medulla, pons and the isthmus ventrally and the cerebellum dorsally. It is continuous with the cerebral aqueduct anteriorally and the central canal of the spinal cord posteriorly. It communicates with the subarachnoid space through its lateral and median apertures. tmpxe7fu0cj_hp_relaxed.owl ventriculus quartus|fourth ventricle proper|rhombencephalic ventricle|ventricle of rhombencephalon|ventricle of hindbrain|rhombencephalic vesicle|hindbrain ventricle|ventricle IV|IVth ventricle|4th ventricle DMBA:126651782|BIRNLEX:1256|BTO:0003426|HBA:9421|VHOG:0000006|TAO:0000110|EV:0100310|GAID:610|CALOHA:TS-2015|OpenCyc:Mx4rv-7Q6pwpEbGdrcN5Y29ycA|DHBA:10669|EMAPA:16917|BAMS:4V|DHBA:12805|NCIT:C12828|XAO:0003099|BM:Pons-4V|BAMS:V4|ZFA:0000110|MA:0000196|AAO:0011043|UMLS:C0149556|MESH:D020546|EHDAA2:0000100|MBA:145|FMA:78469|EHDAA:896 http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray734.png uberon owl:Class The fourth ventricle is an irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind. It is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space[GO][GO:0021592].|Irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind. It is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space.[AAO]|Fluid-filled brain cavity. Kimmel et al, 1995.[TAO] The early development of most vertebrate brains is similar (...). The zebrafish neural tube follows the same basic differentiation pattern as the mammalian neural tube (reference 1); The brain develops from three embryonic enlargements of the neural tube, which later differentiate into five regions. A forebrain differentiates into telencephalon and diencephalon. The midbrain, or mesencephalon, remains undivided. The hindbrain divides into the metencephalon and myelencephalon. Cavities within the brain enlarge to form a series of interconnected ventricles (reference 2).[well established][VHOG] HP:0033880 biolink:NamedThing Arcuate vein intimal mucoid edema Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining. tmpxe7fu0cj_hp_relaxed.owl Intimal mucoid edema within arcuate veins 2021-06-23 19:35:40+00:00 peter owl:Class GO:1900116 biolink:NamedThing extracellular negative regulation of signal transduction Any negative regulation of signal transduction that takes place in extracellular region. tmpxe7fu0cj_hp_relaxed.owl extracellular inhibition of signaling pathway|negative regulation of signalling pathway in extracellular region|negative regulation of signaling pathway in extracellular region|downregulation of signal transduction in extracellular region|down regulation of signal transduction in extracellular region|inhibition of signal transduction in extracellular region|down-regulation of signal transduction in extracellular region bf 2012-02-22T10:27:56Z biological_process owl:Class UBERON:0010316 biolink:NamedThing germ layer / neural crest tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0012746 biolink:NamedThing Thin toenail Toenail that appears thin when viewed on end. tmpxe7fu0cj_hp_relaxed.owl Thin toenails|Thin toenail UMLS:C3554113 No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified. peter 2014-03-23T05:34:43Z HP:0040038 human_phenotype owl:Class HP:0040317 biolink:NamedThing Blue urine An abnormal blue color of the urine. tmpxe7fu0cj_hp_relaxed.owl Blue or green urine coloration may be observed due to certain dyes used for tests of kidney and bladder function, some medications, and disorders including familial benign hypercalcemia and urinary tract infections caused by pseudomonas bacteria. ORCID:0000-0002-5316-1399 owl:Class HP:0004307 biolink:NamedThing Abnormal anatomic location of the heart Developmental defect characterized by an anomalous anatomic location of the heart. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025359 peter 2008-02-20T01:23:00Z owl:Class UBERON:0003951 biolink:NamedThing ocular fundus The posterior concave interior of the eye, consisting of the retina, the choroid, the posterior segment of the sclera, the optic disk, and blood vessels, visible by an ophthalmoscope. tmpxe7fu0cj_hp_relaxed.owl fundus oculi|fundus|fundus of eye|eye fundus UMLS:C0740422|MESH:D005654|GAID:908|galen:FundusOculi|EMAPA:37916|NCIT:C13378|RETIRED_EHDAA2:0000583 TODO - check relationships uberon owl:Class UBERON:0001616 biolink:NamedThing maxillary artery An artery that supplies deep structures of the face. It comes just out behind the neck of the mandible. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl arteria maxillaris|internal maxillary artery MA:0001919|FMA:49675|GAID:498|SCTID:181326006|EHDAA2:0001069|NCIT:C34205|EHDAA:7357|Wikipedia:Maxillary_artery|MESH:D008438|OpenCyc:Mx4rwDDJ45wpEbGdrcN5Y29ycA|UMLS:C0024949|EMAPA:17311 http://upload.wikimedia.org/wikipedia/commons/3/39/Gray510.png uberon owl:Class ...1st pair undergoes partial regression, the remnants of which becomes part of the maxillary arteries UBERON:0003569 biolink:NamedThing leg connective tissue A portion of connective tissue that is part of a leg [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl leg textus connectivus|leg portion of connective tissue|portion of connective tissue of leg|connective tissue of leg|textus connectivus of leg EMAPA:37324|MA:0000671 uberon owl:Class HP:0100211 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the outermost bone of the pinkie toe|Speckled calcifications in the end part of the outermost bone of the pinky toe|Speckled calcifications in the end part of the outermost bone of the little toe UMLS:C4022210 doelkens 2010-06-24T05:03:31Z human_phenotype owl:Class HP:0100086 biolink:NamedThing Stippling of the epiphyses of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the little toe bone|Speckled calcifications in the end part of the pinkie toe bone|Speckled calcifications in the end part of the pinky toe bone UMLS:C4022335 doelkens 2010-06-24T10:00:02Z human_phenotype owl:Class GO:0045619 biolink:NamedThing regulation of lymphocyte differentiation Any process that modulates the frequency, rate or extent of lymphocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of lymphocyte development Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. biological_process owl:Class GO:0021579 biolink:NamedThing medulla oblongata morphogenesis The process in which the anatomical structure of the medulla oblongata is generated and organized. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate. tmpxe7fu0cj_hp_relaxed.owl myelencephalon morphogenesis|medulla morphogenesis biological_process owl:Class GO:0050867 biolink:NamedThing positive regulation of cell activation Any process that activates or increases the frequency, rate or extent of activation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of cell activation|stimulation of cell activation|up regulation of cell activation|activation of cell activation|upregulation of cell activation biological_process owl:Class HP:0009315 biolink:NamedThing Triangular shaped proximal phalanx of the 4th finger Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped innermost bone of the 4th finger|Triangular shaped innermost bone of the ring finger UMLS:C4024447 doelkens 2009-01-08T05:11:48Z human_phenotype owl:Class HP:0009407 biolink:NamedThing Triangular shaped phalanges of the 4th finger Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped bone of ring finger UMLS:C4024385 doelkens 2009-01-13T02:37:29Z human_phenotype owl:Class GO:0009235 biolink:NamedThing cobalamin metabolic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. tmpxe7fu0cj_hp_relaxed.owl vitamin B12 metabolic process|vitamin B12 reduction|vitamin B12 metabolism|cobalamin metabolism biological_process owl:Class CHEBI:49167 biolink:NamedThing anti-asthmatic drug A drug used to treat asthma. tmpxe7fu0cj_hp_relaxed.owl anti-asthmatic drugs|anti-asthmatic agents|anti-asthmatic agent chebi_ontology owl:Class HP:0033561 biolink:NamedThing Anti-bactericidal/permeability-increasing protein antibody positivity The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies. tmpxe7fu0cj_hp_relaxed.owl Anti-BPI antibody positivity 2021-01-23 12:25:21+00:00 peter owl:Class HP:0009616 biolink:NamedThing Bifid first metacarpal Partial duplication of the first metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Notched first long bone of hand|partial duplication of the first metacarpal UMLS:C4021423 In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin (equivalent to the proximal phalanges of the other digits). This term applies if the first metacarpal is partially duplicated. Depending on the severity the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal) to a partially fused appearance of the two bones. In most cases the fused bone resembles a Y-shape. doelkens 2009-01-29T04:06:17Z human_phenotype owl:Class HP:0010003 biolink:NamedThing Partial duplication of the proximal phalanges of the hand A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the innermost bones of the hand UMLS:C4024116 doelkens 2009-05-26T03:55:29Z human_phenotype owl:Class HP:0008344 biolink:NamedThing Elevated plasma branched chain amino acids An increased concentration of a branched chain amino acid in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024697 human_phenotype owl:Class HP:0010892 biolink:NamedThing Abnormal circulating branched chain amino acid concentration Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023673 peter 2010-11-11T02:53:04Z human_phenotype owl:Class HP:0004681 biolink:NamedThing Deep longitudinal plantar crease Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot. tmpxe7fu0cj_hp_relaxed.owl Foot crease|Longitudinal groove on soles UMLS:C4280508|UMLS:C1859223 human_phenotype owl:Class HP:0003914 biolink:NamedThing Irregular ossification of humeral metaphyses tmpxe7fu0cj_hp_relaxed.owl Irregular bone maturation of the wide portion of the long bone in upper arm UMLS:C4025513 human_phenotype owl:Class HP:0009975 biolink:NamedThing Duplication of the distal phalanx of the 4th finger Partial or complete duplication of the distal phalanx of ring finger. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the distal phalanx of the 4th finger|Partial/complete duplication of the outermost bone of the ring finger UMLS:C4021358 doelkens 2009-05-26T02:20:08Z human_phenotype owl:Class HP:0009883 biolink:NamedThing Duplication of the distal phalanx of hand This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. tmpxe7fu0cj_hp_relaxed.owl Duplication of the outermost bone of hand|Bifid terminal phalanges|Notched outermost bone of hand|Partial/complete duplication of the distal phalanges of the hand UMLS:C1849343 doelkens 2009-04-24T04:33:55Z HP:0001228|HP:0010007 human_phenotype owl:Class GO:1902492 biolink:NamedThing positive regulation of sperm capacitation tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0006320 biolink:NamedThing inferior oblique extraocular muscle Thin, narrow muscle placed near the anterior margin of the floor of the orbit. tmpxe7fu0cj_hp_relaxed.owl obliquus oculi inferior|inferior oblique|ventral oblique extraocular muscles|ventral oblique extraocular muscle|musculus obliquus inferior|musculus obliquus inferior bulbi|inferior oblique muscle|obliquus inferior|m. obliquus inferior VHOG:0001132|FMA:49040|MA:0001276|AAO:0010117|NCIT:C32783|ZFA:0000861|UMLS:C0582817|TAO:0000861 Taxon notes (via VHOG): "The ability to rotate the eyeball is common to all vertebrates with well-developed eyes, regardless of the habitat in which they live, so these [extrinsic ocular] muscles tend to be conservative. They change little during the course of evolution." Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective, Third Edition (2001) Orlando Fla.: Harcourt College Publishers, p.331 http://upload.wikimedia.org/wikipedia/commons/e/e8/Eyemuscles.png uberon owl:Class The ability to rotate the eyeball is common to all vertebrates with well-developed eyes, regardless of the habitat in which they live, so these [extrinsic ocular] muscles tend to be conservative. They change little during the course of evolution.[well established][VHOG] HP:0012474 biolink:NamedThing Carotid artery occlusion Complete obstruction of a carotid artery. tmpxe7fu0cj_hp_relaxed.owl Obstructed carotid artery SNOMEDCT_US:69798007|UMLS:C0265101|SNOMEDCT_US:266254007 Carotid artery occlusion is usually caused by caused by atherosclerosis. peter 2013-11-27T10:11:40Z human_phenotype owl:Class HP:0010898 biolink:NamedThing Abnormal circulating sarcosine concentration An deviation from the normal concentration of sarcosine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023668 Sarcosine, which is also known as N-methylglycine, is an intermediate and byproduct in glycine synthesis and degradation. peter 2010-11-30T05:44:10Z human_phenotype owl:Class CHEBI:35618 biolink:NamedThing aromatic ether Any ether in which the oxygen is attached to at least one aryl substituent. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:25698 biolink:NamedThing ether An organooxygen compound with formula ROR, where R is not hydrogen. tmpxe7fu0cj_hp_relaxed.owl ethers|ether 0 OR2 15.99940 15.99491 [*]O[*] chebi_ontology owl:Class UBERON:0000980 biolink:NamedThing trochanter A bony prominence near the extremity of the femur that normally serves as attachment points for hip and thigh muscles[MP,modified]. tmpxe7fu0cj_hp_relaxed.owl femoral trochanter|trochanter of femur UMLS:C0162370|FMA:82513|NCIT:C33814|MA:0002821|AAO:0000897 uberon owl:Class Process on the ventral surface of the shaft of the femur.[AAO] there are two in human (greater and lesser trochanters) and three in many other mammalian species (greater, lesser and third) HP:0011146 biolink:NamedThing Dialeptic seizure A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. tmpxe7fu0cj_hp_relaxed.owl Behavioural arrest seizure with impairment of awareness irrespective of onset|Behavioral arrest seizure with impairment of awareness irrespective of onset|Unknown onset behavioural arrest seizure with impairment of awareness|Unknown onset behavioral arrest seizure with impairment of awareness The main ictal manifestation of dialeptic seizures is an alteration of consciousness rather than motor or sensory features. The term describes the pure clinical semiology of a seizure and is used independently of the ictal electrographic findings: it could describe a seizure of focal, generalized or unknown onset. In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. 2011-10-18T01:47:30Z owl:Class GO:0006779 biolink:NamedThing porphyrin-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of any member of a large group of derivatives or analogs of porphyrin. Porphyrin consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. tmpxe7fu0cj_hp_relaxed.owl porphyrin formation|porphyrin biosynthesis|porphyrin biosynthetic process|porphyrin synthesis|porphyrin anabolism biological_process owl:Class GO:0006778 biolink:NamedThing porphyrin-containing compound metabolic process The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. tmpxe7fu0cj_hp_relaxed.owl porphyrin metabolism|porphyrin metabolic process biological_process owl:Class HP:0000652 biolink:NamedThing Lower eyelid coloboma A short discontinuity of the margin of the lower eyelid. tmpxe7fu0cj_hp_relaxed.owl Lower lid coloboma|Cleft lower eyelid|Full thickness defect of the lower eyelid|Notched lower eyelid|Coloboma of lower eyelid UMLS:C1837826 HP:0007909 human_phenotype owl:Class GO:0010847 biolink:NamedThing regulation of chromatin assembly Any process the modulates the frequency, rate or extent of chromatin assembly. Chromatin assembly is the assembly of DNA, histone proteins, and other associated proteins into chromatin structure, beginning with the formation of the basic unit, the nucleosome, followed by organization of the nucleosomes into higher order structures, ultimately giving rise to a complex organization of specific domains within the nucleus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0071695 biolink:NamedThing anatomical structure maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state. tmpxe7fu0cj_hp_relaxed.owl mah 2010-03-02T11:43:38Z biological_process owl:Class GO:0021700 biolink:NamedThing developmental maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001217 biolink:NamedThing ileal vein The veins that drain blood from the ileum into the superior mesenteric vein. tmpxe7fu0cj_hp_relaxed.owl MA:0002140|FMA:15405|EMAPA:37149|NCIT:C53046|UMLS:C1301431 uberon owl:Class UBERON:0003726 biolink:NamedThing thoracic nerve The twelve spinal nerves on each side of the thorax. They include eleven INTERCOSTAL NERVES and one subcostal nerve. Both sensory and motor, they supply the muscles and skin of the thoracic and abdominal walls. tmpxe7fu0cj_hp_relaxed.owl nervus thoracis|thoracic spinal nerve|pectoral nerve|nervi thoracici MESH:D013900|SCTID:360498003|OpenCyc:Mx4rwSJp_ZwpEbGdrcN5Y29ycA|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1725|Wikipedia:Thoracic_nerves|GAID:857|FMA:5860 uberon owl:Class GO:0045922 biolink:NamedThing negative regulation of fatty acid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. tmpxe7fu0cj_hp_relaxed.owl downregulation of fatty acid metabolic process|down regulation of fatty acid metabolic process|inhibition of fatty acid metabolic process|down-regulation of fatty acid metabolic process|negative regulation of fatty acid metabolism biological_process owl:Class GO:1903488 biolink:NamedThing negative regulation of lactation tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0010610 biolink:NamedThing Palmar pits tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:247449001|UMLS:C0423776 sandra1 2009-10-28T01:23:05Z human_phenotype owl:Class GO:0003314 biolink:NamedThing heart rudiment morphogenesis The process in which the anatomical structures of the heart rudiment are generated and organized. tmpxe7fu0cj_hp_relaxed.owl heart cone morphogenesis dph 2009-10-27T08:38:04Z biological_process owl:Class HP:0025088 biolink:NamedThing Onychomadesis Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth. tmpxe7fu0cj_hp_relaxed.owl 2016-10-24 00:35:53+00:00 Onychomadesis is defined as proximal nail plate separation from the nail matrix and nail bed caused by a temporary arrest in nail matrix activity, and may present as a Beau's line. HPO:probinson owl:Class HP:0032274 biolink:NamedThing Increased CSF N-acetylaspartic acid concentration An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl Increased N-acetylaspartate levels in CSF|Increased N-acetyl-L-aspartic acid levels in CSF|Increased N-acetyl aspartic acid levels in CSF|Increased N-acetyl aspartate levels in CSF|Increased NAA levels in CSF 2019-01-27 21:07:45+00:00 peter owl:Class UBERON:0002921 biolink:NamedThing longitudinal fissure The deep groove which separates the two hemispheres of the vertebrate brain. The falx cerebri, a dural brain covering, lies within the medial longitudinal fissure. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl sagittal fissure|fissura interhemispherica|LF|fissura longitudinalis cerebri|longitudinal sulcus|interhemispheric fissure|hemispheric sulcus|longitudinal fissure of the cerebrum|fissura longitudinalis magna|fissura longitudinalis cerebrales|medial longitudinal fissure|longitudinal fissure of hemisphere|longitudinal cerebral fissure NCIT:C33005|BIRNLEX:4041|BAMS:lf|OpenCyc:Mx4rwJlWu5wpEbGdrcN5Y29ycA|HBA:9401|BAMS:lfh|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=35|UMLS:C0228186|DHBA:10622|FMA:83727 http://upload.wikimedia.org/wikipedia/commons/9/92/Hemispheres.png uberon owl:Class HP:0000802 biolink:NamedThing Impotence Inability to develop or maintain an erection of the penis. tmpxe7fu0cj_hp_relaxed.owl Difficulty getting a full erection|Difficulty getting an erection SNOMEDCT_US:397803000|MSH:D007172|UMLS:C0242350 human_phenotype owl:Class HP:0012874 biolink:NamedThing Abnormal male reproductive system physiology An abnormal functionality of the male genital system. tmpxe7fu0cj_hp_relaxed.owl Abnormal male genital system physiology UMLS:C4020716 hecht 2014-06-09T11:20:46Z human_phenotype owl:Class GO:0010614 biolink:NamedThing negative regulation of cardiac muscle hypertrophy Any process that decreases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0043388 biolink:NamedThing positive regulation of DNA binding Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). tmpxe7fu0cj_hp_relaxed.owl upregulation of DNA binding|activation of DNA binding|up regulation of DNA binding|up-regulation of DNA binding|stimulation of DNA binding biological_process owl:Class CHEBI:35881 biolink:NamedThing pnictogen hydride tmpxe7fu0cj_hp_relaxed.owl pnictogen hydride|pnictogen hydrides chebi_ontology owl:Class HP:0032758 biolink:NamedThing Focal aware myoclonic seizure A type of focal myoclonic seizure during which awareness is fully retained throughout. tmpxe7fu0cj_hp_relaxed.owl A single or short cluster of brief muscle contractions (jerks), each jerk is typically milliseconds in duration. peter owl:Class HP:0006262 biolink:NamedThing Aplasia/Hypoplasia of the 5th finger A small/hypoplastic or absent/aplastic 5th finger. tmpxe7fu0cj_hp_relaxed.owl Absent/small pinkie finger|Absent/underdeveloped pinky finger|Absent/underdeveloped pinkie finger|Absent/underdeveloped little finger|Absent/small little finger|Absent/small pinky finger UMLS:C4025074 peter 2008-03-28T02:59:00Z human_phenotype owl:Class UBERON:0004852 biolink:NamedThing cardiovascular system endothelium An endothelium that is part of the cardiovascular system. tmpxe7fu0cj_hp_relaxed.owl vascular endothelia|endothelia VHOG:0001217|BTO:0001853|UMLS:C0014261|TAO:0002171|NCIT:C13053|EMAPA:35201|GAID:519|MA:0000717|XAO:0000356|ZFA:0001639|MESH:D004730 consider merging with 'endothelium' uberon owl:Class Vertebrates and a very few invertebrates such as squids have evolved a secondary epithelium, the endothelium, that lines their blood vessels.[well established][VHOG] HP:3000042 biolink:NamedThing Abnormal jugular vein morphology Any structural abnormality of a jugular vein. tmpxe7fu0cj_hp_relaxed.owl Abnormality of jugular vein UMLS:C4073250 vasilevs 2015-08-07T01:04:39Z human_phenotype owl:Class HP:0012716 biolink:NamedThing Moderate conductive hearing impairment The presence of a moderate form of conductive hearing impairment. tmpxe7fu0cj_hp_relaxed.owl Conductive hearing loss, moderate UMLS:C4021075 Conductive hearing impairment with 21-40 dB deficit. peter 2014-03-23T12:40:05Z human_phenotype owl:Class UBERON:0003596 biolink:NamedThing ankle connective tissue A portion of connective tissue that is part of an ankle [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl tarsal region connective tissue|connective tissue of ankle EMAPA:37328|MA:0000639 uberon owl:Class UBERON:0003595 biolink:NamedThing pes connective tissue A portion of connective tissue that is part of a foot [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl connective tissue of foot|foot connective tissue|connective tissue of terminal segment of free lower limb|textus connectivus of pes EMAPA:37329|MA:0000644 uberon owl:Class GO:1903543 biolink:NamedThing positive regulation of exosomal secretion Any process that activates or increases the frequency, rate or extent of exosomal secretion. tmpxe7fu0cj_hp_relaxed.owl upregulation of exosomal secretion|activation of extracellular vesicular exosome secretion|activation of exosomal secretory pathway|up regulation of exosomal secretory pathway|activation of exosomal secretion|up regulation of exosomal secretion|upregulation of exosomal protein secretion|activation of secretion of exosome|up-regulation of secretion of exosome|up regulation of secretion of exosome|positive regulation of secretion of exosome|positive regulation of extracellular vesicular exosome secretion|up regulation of extracellular vesicular exosome secretion|up-regulation of exosomal protein secretion|activation of exosomal protein secretion|positive regulation of exosomal secretory pathway|up-regulation of exosomal secretion|positive regulation of exosomal protein secretion|up-regulation of extracellular vesicular exosome secretion|upregulation of exosomal secretory pathway|upregulation of secretion of exosome|up regulation of exosomal protein secretion|upregulation of extracellular vesicular exosome secretion|up-regulation of exosomal secretory pathway pga 2014-10-14T11:39:10Z biological_process owl:Class HP:0410073 biolink:NamedThing Increased level of ribose in CSF An increase in the level of ribose in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Increased level of ribose in cerebrospinal fluid 2018-01-30 00:47:46+00:00 ORCID:0000-0001-5208-3432 owl:Class UBERON:0013700 biolink:NamedThing axial musculature Musculature of the head and neck, spine, and ribs. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000159|EMAPA:18166 uberon owl:Class GO:0035270 biolink:NamedThing endocrine system development Progression of the endocrine system over time, from its formation to a mature structure. The endocrine system is a system of hormones and ductless glands, where the glands release hormones directly into the blood, lymph or other intercellular fluid, and the hormones circulate within the body to affect distant organs. The major glands that make up the human endocrine system are the hypothalamus, pituitary, thyroid, parathryoids, adrenals, pineal body, and the reproductive glands which include the ovaries and testes. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1901137 biolink:NamedThing carbohydrate derivative biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrate derivative. tmpxe7fu0cj_hp_relaxed.owl carbohydrate derivative synthesis|carbohydrate derivative biosynthesis|carbohydrate derivative anabolism|carbohydrate derivative formation bf 2012-07-12T04:05:39Z biological_process owl:Class HP:0010389 biolink:NamedThing Symphalangism affecting the phalanges of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Fused bones in the pinky toe|Fused bones in the pinkie toe|Fused bones in the little toe UMLS:C4023864 doelkens 2009-07-16T11:52:18Z human_phenotype owl:Class HP:0003903 biolink:NamedThing Broad humeral epiphyses Increased width of the humeral epiphysis. tmpxe7fu0cj_hp_relaxed.owl Wide humeral epiphyses|Wide end part of long bone in upper arm UMLS:C4021710 human_phenotype owl:Class GO:0070857 biolink:NamedThing regulation of bile acid biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0010565 biolink:NamedThing regulation of cellular ketone metabolic process Any process that modulates the chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:3000061 biolink:NamedThing Abnormality of infra-orbital nerve A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the infraorbital nerve UMLS:C4073269 vasilevs 2015-08-07T03:18:57Z human_phenotype owl:Class HP:0010824 biolink:NamedThing Abnormal fifth cranial nerve morphology Any structural abormality of the fifth cranial nerve. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the fifth cranial nerve|Abnormality of the nervus trigeminus|Abnormal trigeminal nerve morphology UMLS:C4021226 peter 2010-07-10T03:51:21Z human_phenotype owl:Class GO:0099175 biolink:NamedThing regulation of postsynapse organization Any process that modulates the physical form of a postsynapse. tmpxe7fu0cj_hp_relaxed.owl regulation of postsynapse organization and biogenesis|regulation of postsynapse organisation|regulation of postsynapse structure biological_process owl:Class GO:0050807 biolink:NamedThing regulation of synapse organization Any process that modulates the physical form of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell). tmpxe7fu0cj_hp_relaxed.owl regulation of synapse organisation|regulation of synapse organization and biogenesis|regulation of synapse structure biological_process owl:Class UBERON:0004622 biolink:NamedThing sacral vertebra 1 tmpxe7fu0cj_hp_relaxed.owl first segment of sacrum|S1 vertebra|first sacral segment|first sacral vertebra EMAPA:19588|NCIT:C33498|FMA:13077|UMLS:C0223598|MA:0001434 elements are to be defined spatially/topologically uberon owl:Class UBERON:0006170 biolink:NamedThing mesonephric capsule The mesonephric capsule is the tough fibrous layer surrounding the mesonephros, covered in a thick layer of perinephric adipose tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class CL:0000114 biolink:NamedThing surface ectodermal cell tmpxe7fu0cj_hp_relaxed.owl cell of surface ectoderm|surface ectoderm cell FMA:72552 cell owl:Class CL:0000221 biolink:NamedThing ectodermal cell A cell of the outer of the three germ layers of the embryo. tmpxe7fu0cj_hp_relaxed.owl ectoderm cell FMA:72549 cell owl:Class GO:0010761 biolink:NamedThing fibroblast migration Cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium. A fibroblast is a connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. tmpxe7fu0cj_hp_relaxed.owl fibroblast cell migration biological_process owl:Class UBERON:0010254 biolink:NamedThing 2nd arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 2nd arch mesenchyme. tmpxe7fu0cj_hp_relaxed.owl neural crest derived arch 2 mesenchyme|pharyngeal arch 2 mesenchyme from neural crest|branchial arch 2 mesenchyme from neural crest EHDAA2:0000068|EMAPA:16281 uberon owl:Class UBERON:0006266 biolink:NamedThing nasolacrimal groove Groove between maxillary prominence and lateral nasal process. tmpxe7fu0cj_hp_relaxed.owl naso-lacrimal groove|s. lacrimalis maxillae EHDAA:4770|EMAPA:16679|VHOG:0001307|NCIT:C34218|EHDAA2:0001238|FMA:300055|UMLS:C1513875 On the nasal surface of the body of the maxilla, in front of the opening of the sinus is a deep groove, the lacrimal groove (or lacrimal sulcus), which is converted into the nasolacrimal canal, by the lacrimal bone and inferior nasal concha; this canal opens into the inferior meatus of the nose and transmits the nasolacrimal duct[WP] See also: oblique facial cleft http://upload.wikimedia.org/wikipedia/commons/3/3f/Gray163.png uberon owl:Class CL:0000835 biolink:NamedThing myeloblast The most primitive precursor in the granulocytic series, having fine, evenly distributed chromatin, several nucleoli, a high nuclear-to-cytoplasmic ration (5:1-7:1), and a nongranular basophilic cytoplasm. They reside in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl BTO:0000187|FMA:83524 cell owl:Class HP:0025342 biolink:NamedThing Central retinal artery occlusion Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss. tmpxe7fu0cj_hp_relaxed.owl 2017-02-12 13:17:04+00:00 Central retinal artery occlusion canmanifest as sudden, acute, and painless loss of vision in one eye. HPO:probinson owl:Class HP:0025326 biolink:NamedThing Retinal arterial occlusion Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina. tmpxe7fu0cj_hp_relaxed.owl Retinal artery occlusion 2017-02-04 17:22:01+00:00 Retinal artery occlusion can manifest as painless loss of monocular vision. HPO:probinson owl:Class UBERON:0004814 biolink:NamedThing upper respiratory tract epithelium An epithelium that is part of a upper respiratory tract [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelium of upper respiratory tract|epithelial tissue of upper respiratory tract|upper respiratory tract epithelial tissue MA:0001912|EMAPA:35894 uberon owl:Class HP:0002686 biolink:NamedThing Prenatal maternal abnormality tmpxe7fu0cj_hp_relaxed.owl Maternal health problem UMLS:C4025690 human_phenotype owl:Class HP:0001197 biolink:NamedThing Abnormality of prenatal development or birth An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. tmpxe7fu0cj_hp_relaxed.owl Abnormality of prenatal development or birth UMLS:C4025797 Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. human_phenotype owl:Class HP:0000679 biolink:NamedThing Taurodontia Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. tmpxe7fu0cj_hp_relaxed.owl Large elongated pulp chamber|Taurodont|Taurodontism MSH:C536946|SNOMEDCT_US:51744007|UMLS:C0266039|UMLS:C4280616 Taurodontia causes a molar shape that is visible on radiographs. Taurodontic teeth display proportionately short roots and enlarged pulp chambers. Body of the tooth and pulp chamber is enlarged. owl:Class HP:0006479 biolink:NamedThing Abnormal dental pulp morphology An abnormality of the dental pulp. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the dental pulp|Abnormality of tooth pulp|Endodontic abnormality UMLS:C4025042 peter 2008-03-28T04:46:00Z owl:Class UBERON:0005032 biolink:NamedThing mucosa of lower lip A mucosa that is part of a lower lip [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lower lip mucosa|mucous membrane of lower lip|lower lip organ mucosa|mucosa of organ of lower lip|organ mucosa of lower lip|lower lip mucosa of organ|lower labial mucosa|lower lip mucous membrane NCIT:C12225|SCTID:362089001|UMLS:C0226939|FMA:59833 uberon owl:Class HP:0004950 biolink:NamedThing Peripheral arterial stenosis Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication. tmpxe7fu0cj_hp_relaxed.owl Arterial disease of legs|Peripheral artery occlusive disease|Peripheral vascular disease|Occlusive vascular disease|Occlusive arterial disease|Peripheral artery disease SNOMEDCT_US:399957001|SNOMEDCT_US:400047006|MSH:D016491|UMLS:C0085096|UMLS:C1704436|MSH:D058729 The ankle-brachial index (ABI; the ratio of systolic blood pressure in the ankle to that in the arm), is a measure of occlusion of peripheral arteries in the leg. Peripheral arterial stenosis may be observed with atherosclerosis and with increased intima media thickness as seen in diseases such as pseudoxanthoma elasticum. The most common cause of peripheral arterial stenosis in patients over 40 years of age is atherosclerosis. Cerebral and coronary arteries are by definition not included in peripheral artery disease. HP:0005794|HP:0004973|HP:0005315|HP:0005296|HP:0004928|HP:0005299|HP:0005309 human_phenotype owl:Class HP:0100545 biolink:NamedThing Arterial stenosis Narrowing or constriction of the inner surface (lumen) of an artery. tmpxe7fu0cj_hp_relaxed.owl Narrowing of an artery UMLS:C0038449|SNOMEDCT_US:68109007 doelkens 2010-12-21T01:30:07Z human_phenotype owl:Class UBERON:0003833 biolink:NamedThing abdominal segment muscle A muscle organ that is part of an abdominal segment of trunk [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscle organ of abdominal segment of trunk|abdominal segment of trunk muscle organ MA:0000527|EMAPA:37060 uberon owl:Class HP:0030766 biolink:NamedThing Ear pain Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia). tmpxe7fu0cj_hp_relaxed.owl Ear pain|Otalgia|Pain in the ear SNOMEDCT_US:16001004|SNOMEDCT_US:162356005|UMLS:C0013456|MSH:D004433 owl:Class UBERON:0003470 biolink:NamedThing artery of upper lip The superior labial artery (superior labial branch of facial artery) is larger and more tortuous than the inferior labial artery. It follows a similar course along the edge of the upper lip, lying between the mucous membrane and the Orbicularis oris, and anastomoses with the artery of the opposite side. It supplies the upper lip, and gives off in its course two or three vessels which ascend to the nose; a septal branch ramifies on the nasal septum as far as the point of the nose, and an alar branch supplies the ala of the nose. tmpxe7fu0cj_hp_relaxed.owl superior labial branch of facial artery|arteria labialis superior|ramus labialis superior arteriae facialis|superior labial artery EMAPA:37430|FMA:49570|MA:0001917 uberon owl:Class HP:0011972 biolink:NamedThing Hypoglycorrhachia Abnormally low glucose concentration in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Low glucose levels in cerebral spinal fluid|Decreased CSF glucose UMLS:C0598121 peter 2012-07-18T08:45:55Z human_phenotype owl:Class HP:0031884 biolink:NamedThing Abnormal CSF glucose level A deviation from normal concentration of glucose content in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl 2018-05-13 13:54:21+00:00 peter owl:Class HP:0010961 biolink:NamedThing Intralobar sequestration A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023627 Intralobar sequestration (ILS) may be diagnosed on antenatal ultrasound screening. ILS can be asymptomatic in later life or can lead to signs and symptoms related to inadequate tracheobronchial drainage caused by the lesion of adjacent atelectatic lung. peter 2011-01-18T12:34:14Z human_phenotype owl:Class GO:0097473 biolink:NamedThing retinal rod cell apoptotic process Any apoptotic process in a retinal rod cell, one of the two photoreceptor cell types of the vertebrate retina. tmpxe7fu0cj_hp_relaxed.owl rod photoreceptor apoptotic process pr 2013-03-21T09:44:45Z biological_process owl:Class GO:0051402 biolink:NamedThing neuron apoptotic process Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. tmpxe7fu0cj_hp_relaxed.owl apoptosis of neuronal cells|programmed cell death of neuronal cells by apoptosis|programmed cell death, neuronal cells|neuron programmed cell death by apoptosis|programmed cell death, neurons|neuronal cell programmed cell death by apoptosis|apoptosis of neurons|programmed cell death of neurons by apoptosis|neuron apoptosis|neuronal cell apoptosis biological_process owl:Class HP:0100476 biolink:NamedThing Symphalangism affecting the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Fused outermost bone of 3rd toe UMLS:C4022051 human_phenotype owl:Class HP:0100470 biolink:NamedThing Symphalangism affecting the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Fused middle bones of 3rd toe UMLS:C4022057 human_phenotype owl:Class HP:0030182 biolink:NamedThing Tetraplegia/tetraparesis Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022595 owl:Class HP:0010549 biolink:NamedThing Weakness due to upper motor neuron dysfunction Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. tmpxe7fu0cj_hp_relaxed.owl Paralysis due to lesions of the principle motor tracts UMLS:C4021255 peter 2009-10-01T08:30:25Z owl:Class HP:0025594 biolink:NamedThing Superior oblique muscle overaction An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 20:41:15+00:00 HPO:probinson owl:Class HP:0025591 biolink:NamedThing Abnormal superior oblique muscle physiology A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 20:12:43+00:00 A neurological examination includes assessment of the trochlear nerve (CN IV) which innervates the superior oblique muscle. The test for CN IV function is for the patient to depress and adduct the eye (ie. to look down and in). This movement is impaired in the presence of a trochlear nerve palsy. HPO:probinson owl:Class HP:0032960 biolink:NamedThing Intratubular calcium phosphate casts Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033593 biolink:NamedThing Anti-H2A-H2B antibody positivity The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer. tmpxe7fu0cj_hp_relaxed.owl 2021-01-28 02:15:22+00:00 peter owl:Class GO:0043073 biolink:NamedThing germ cell nucleus The nucleus of a germ cell, a reproductive cell in multicellular organisms. tmpxe7fu0cj_hp_relaxed.owl germ-cell nucleus cellular_component owl:Class HP:0100719 biolink:NamedThing Lens coloboma A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0344516|SNOMEDCT_US:204134008 doelkens 2011-06-06T02:16:53Z human_phenotype owl:Class HP:0000589 biolink:NamedThing Coloboma A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. tmpxe7fu0cj_hp_relaxed.owl Notched pupil|Ocular colobomas|Ocular coloboma UMLS:C0009363|SNOMEDCT_US:92828000|SNOMEDCT_US:93390002|Fyler:4311|MSH:D003103 HP:0007995|HP:0007767 human_phenotype owl:Class UBERON:0014394 biolink:NamedThing uterine fat pad Encapsulated adipose tissue associated with the uterus. tmpxe7fu0cj_hp_relaxed.owl peri-uterine fat pad|uterine fat depot|periuterine fat pad EMAPA:37979 uberon owl:Class GO:0045671 biolink:NamedThing negative regulation of osteoclast differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation. tmpxe7fu0cj_hp_relaxed.owl inhibition of osteoclast differentiation|downregulation of osteoclast differentiation|down regulation of osteoclast differentiation|down-regulation of osteoclast differentiation biological_process owl:Class GO:0051446 biolink:NamedThing positive regulation of meiotic cell cycle tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0005352 biolink:NamedThing Severe T-cell immunodeficiency A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms. tmpxe7fu0cj_hp_relaxed.owl Severe T-cell immunodeficiency UMLS:C4025208 Several diseases are classified as severe T cell immunodeficiencies: severe combined immunodeficiency syndrome (SCID), reticular dysgenesis, thymic dysplasia (Nezelof syndrome), combined immunodeficiency disease (CID), and Wiskott-Aldrich syndrome (WAS). human_phenotype owl:Class CL:0002246 biolink:NamedThing peripheral blood stem cell A hematopoeitic stem cell found in the blood. Normally found in very limited numbers in the peripheral circulation (less than 0.1% of all nucleated cells). tmpxe7fu0cj_hp_relaxed.owl PBSC BTO:0002669|FMA:86711 tmeehan 2010-09-07T03:57:09Z cell owl:Class CL:0000080 biolink:NamedThing circulating cell A cell which moves among different tissues of the body, via blood, lymph, or other medium. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class UBERON:0009027 biolink:NamedThing vesical artery An artery that supplies blood to the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl arteria vesicali|vesical arteries EMAPA:37131|MA:0002078 uberon owl:Class NBO:0000643 biolink:NamedThing involuntary movement behavior phenotype "Observable characteristic of behavior related to movements that occur independent of planning." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-05-27T11:56:52Z George Gkoutos behavior_ontology owl:Class UBERON:0016565 biolink:NamedThing cerebral blood vessel A blood vessel that is part of a cerebellum. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0003499 biolink:NamedThing brain blood vessel A blood vessel that is part of a brain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of brain MA:0002769|EMAPA:35182 uberon owl:Class GO:0099642 biolink:NamedThing retrograde axonal protein transport The directed movement of proteins along microtubules from the cell periphery toward the cell body in nerve cell axons. tmpxe7fu0cj_hp_relaxed.owl retrograde axon cargo transport biological_process owl:Class HP:0200136 biolink:NamedThing Oral-pharyngeal dysphagia tmpxe7fu0cj_hp_relaxed.owl Oral pharyngeal dysphagia|Oropharyngeal dysphagia UMLS:C0267071|SNOMEDCT_US:71457002|MSH:D003680 sebastiankohler 2013-06-12T11:05:35Z human_phenotype owl:Class UBERON:0007300 biolink:NamedThing pectoral appendage blood vessel A blood vessel that is part of a pectoral appendage. tmpxe7fu0cj_hp_relaxed.owl pectoral fin blood vessel ZFA:0005301|TAO:0005301 uberon owl:Class GO:0043903 biolink:NamedThing regulation of biological process involved in symbiotic interaction Any process that modulates the frequency, rate or extent of symbiosis, an interaction between two organisms living together in more or less intimate association. tmpxe7fu0cj_hp_relaxed.owl regulation of interspecies interactions between organisms|regulation of symbiotic process|regulation of symbiosis, encompassing mutualism through parasitism https://github.com/geneontology/go-ontology/issues/20191|https://github.com/geneontology/go-ontology/issues/19028 regulation of interspecies interactions between organisms biological_process owl:Class HP:0004943 biolink:NamedThing Accelerated atherosclerosis Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. tmpxe7fu0cj_hp_relaxed.owl Accelerated plaque build-up in arteries UMLS:C1849618|UMLS:C4280504 human_phenotype owl:Class HP:0008391 biolink:NamedThing Dystrophic fingernails The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. tmpxe7fu0cj_hp_relaxed.owl Poor fingernail formation UMLS:C3551426 owl:Class NCBITaxon:9605 biolink:NamedThing Homo tmpxe7fu0cj_hp_relaxed.owl owl:Class NCBITaxon:207598 biolink:NamedThing Homininae tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:1902875 biolink:NamedThing regulation of embryonic pattern specification Any process that modulates the frequency, rate or extent of embryonic pattern specification. tmpxe7fu0cj_hp_relaxed.owl regulation of embryonic pattern biosynthesis|regulation of ventral/lateral system|regulation of embryonic pattern formation mr 2014-04-03T15:25:15Z biological_process owl:Class HP:0009534 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Triangular end part of innermost long bone of index finger|Triangular epiphysis of proximal index finger phalanx UMLS:C4021454 doelkens 2009-01-16T01:12:34Z HP:0004130 human_phenotype owl:Class HP:0200053 biolink:NamedThing Hemihypotrophy of lower limb Shortening of a leg affecting only one side. tmpxe7fu0cj_hp_relaxed.owl Asymmetric leg shortening|Asymmetric lower limb shortness UMLS:C1844734 sebastiankohler 2011-12-02T03:41:26Z HP:0005618 human_phenotype owl:Class GO:0099612 biolink:NamedThing protein localization to axon A process in which a protein is transported to or maintained in a location within an axon. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0005565 biolink:NamedThing facio-acoustic neural crest Cranial neural crest that gives rise to the facio-acoustic ganglion. tmpxe7fu0cj_hp_relaxed.owl facio acoustic neural crest EMAPA:16312|TAO:0000762|EHDAA:658|EHDAA2:0000492|VHOG:0000268|ZFA:0000762 uberon owl:Class We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] HP:0008720 biolink:NamedThing Primary testicular failure tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:48723006|SNOMEDCT_US:370997001|UMLS:C1384582 human_phenotype owl:Class UBERON:0009988 biolink:NamedThing condyle of humerus The distal end of the humerus, including the trochlea, capitulum and the olecranon, coronoid and radial fossae. tmpxe7fu0cj_hp_relaxed.owl humeral condyle|condylus humeri FMA:23377 uberon owl:Class As in the N.A., the Condylus humeri is the whole distal end of the bone except the epicondyles. The Capitulum humeri is present in Carnivora, more distinctly in the cat than in the dog. The Fossa coronoidea, present in the cat is medial to the Fossa radialis and accommodates the Processus coronoideus medialis ulnae when the elbow is flexed. A Foramen supratrochleare occurs in carnivora and occasionally in pig.[NOMINA ANATOMICA VETERINARIA (2005)] HP:0025433 biolink:NamedThing Decreased lecithin cholesterol acyl transferase level Reduced level of the enzyme lecithin cholesterol acyl transferase. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 16:31:33+00:00 Lecithin cholesterol acyl transferase (LCAT) is a plasma enzyme which esterifies cholesterol, and plays a key role in the metabolism of high-density lipoprotein cholesterol (HDL-C). HPO:probinson owl:Class HP:0006769 biolink:NamedThing Myxoid subcutaneous tumors tmpxe7fu0cj_hp_relaxed.owl Myxoid subcutaneous tumours UMLS:C1834421 human_phenotype owl:Class UBERON:0003897 biolink:NamedThing axial muscle One of the skeletal muscles of the head and neck, spine, and ribs. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18167|TAO:0001954|EHDAA:5982|RETIRED_EHDAA2:0000160|MA:0003153 uberon owl:Class GO:0042627 biolink:NamedThing chylomicron A large lipoprotein particle (diameter 75-1200 nm) composed of a central core of triglycerides and cholesterol surrounded by a protein-phospholipid coating. The proteins include one molecule of apolipoprotein B-48 and may include a variety of apolipoproteins, including APOAs, APOCs and APOE. Chylomicrons are found in blood or lymph and carry lipids from the intestines into other body tissues. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Chylomicron cellular_component owl:Class GO:0034358 biolink:NamedThing plasma lipoprotein particle A spherical particle with a hydrophobic core of triglycerides and/or cholesterol esters, surrounded by an amphipathic monolayer of phospholipids, cholesterol and apolipoproteins. Plasma lipoprotein particles transport lipids, which are non-covalently associated with the particles, in the blood or lymph. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:2000212 biolink:NamedThing negative regulation of glutamate metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of glutamate metabolic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of glutamic acid metabolic process|negative regulation of glutamic acid metabolism|negative regulation of glutamate metabolism mah 2010-11-03T02:43:55Z biological_process owl:Class GO:0002067 biolink:NamedThing glandular epithelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a glandular epithelial cell. A glandular epithelial cell is a columnar/cuboidal epithelial cell found in a two dimensional sheet with a free surface exposed to the lumen of a gland. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0002065 biolink:NamedThing columnar/cuboidal epithelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a columnar/cuboidal epithelial cell. A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0055009 biolink:NamedThing atrial cardiac muscle tissue morphogenesis The process in which the anatomical structure of cardiac atrium muscle is generated and organized. tmpxe7fu0cj_hp_relaxed.owl cardiac atrium muscle morphogenesis|atrial myocardium morphogenesis|atrial heart muscle morphogenesis biological_process owl:Class GO:0016525 biolink:NamedThing negative regulation of angiogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. tmpxe7fu0cj_hp_relaxed.owl inhibition of angiogenesis|down-regulation of angiogenesis|down regulation of angiogenesis|downregulation of angiogenesis biological_process owl:Class UBERON:0001974 biolink:NamedThing lamina propria of esophagus A lamina propria that is part of a esophagus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl oesophagus lamina propria mucosae|lamina propria mucosae of oesophagus|lamina propria mucosae of gullet|gullet lamina propria mucosae|lamina propria of gullet|gullet lamina propria mucosa|oesophagus lamina propria|gullet lamina propria|lamina propria of oesophagus|esophagus lamina propria mucosa|esophagus lamina propria mucosae|lamina propria mucosa of esophagus|esophageal lamina propria|esophagus lamina propria|lamina propria mucosae of esophagus|oesophagus lamina propria mucosa|lamina propria mucosa of gullet|lamina propria mucosa of oesophagus NCIT:C49223|FMA:63050|EMAPA:26987|MA:0001568|UMLS:C1707949 uberon owl:Class UBERON:0005184 biolink:NamedThing hair medulla Innermost layer of the hair shaft. tmpxe7fu0cj_hp_relaxed.owl medulla of hair shaft EMAPA:35389|BTO:0004671|MA:0000158 uberon owl:Class CHEBI:89843 biolink:NamedThing methylsuccinic acid A racemate comprising equimolar amounts of (R)- and (S)-methylsuccinic acid tmpxe7fu0cj_hp_relaxed.owl (+-)-methylsuccinic acid|2-methylbutanedioic acid|rac-2-methylbutanedioic acid|1,2-Propanedicarboxylic acid|Methylbutanedioic acid|2-methyl-butanedioic acid|(RS)-2-methylbutanedioic acid|Methyl Succinic acid|Pyrotartaric acid|(RS)-methylsuccinic acid 0 C5H8O4 132.115 132.04226 LIPID_MAPS_instance:LMFA01170119|CAS:498-21-5|Reaxys:1722946|HMDB:HMDB0001844|MetaCyc:CPD-2461 chebi_ontology owl:Class CHEBI:60911 biolink:NamedThing racemate A racemate is an equimolar mixture of a pair of enantiomers. tmpxe7fu0cj_hp_relaxed.owl racemic mixture|melange racemique|racemates chebi_ontology owl:Class GO:0033048 biolink:NamedThing negative regulation of mitotic sister chromatid segregation Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation during mitosis. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:33262 biolink:NamedThing elemental oxygen tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class UBERON:0004834 biolink:NamedThing hepatic duct smooth muscle Smooth muscle tissue in all or part of a hepatic duct. tmpxe7fu0cj_hp_relaxed.owl MA:0001640|EMAPA:37598 uberon owl:Class HP:0032778 biolink:NamedThing Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0005062 biolink:NamedThing neural fold One of the two elevated edges of the neural groove[GO,MP]. tmpxe7fu0cj_hp_relaxed.owl medullary fold FMA:295618|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1364|SCTID:361461009|UMLS:C0814993|XAO:0004087|NCIT:C34223|EHDAA2:0001249|Wikipedia:Neural_fold uberon owl:Class In front of the primitive streak two longitudinal ridges, caused by a folding up of the ectoderm, make their appearance, one on either side of the middle line. These are named the neural folds; they commence some little distance behind the anterior end of the embryonic disk, where they are continuous with each other, and from there gradually extend backward, one on either side of the anterior end of the primitive streak. Also, after differentiation it turns into the neural tubes[Wikipedia:Neural_fold]. HP:0012815 biolink:NamedThing Hypoplastic female external genitalia Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris). tmpxe7fu0cj_hp_relaxed.owl Underdeveloped female external genitalia UMLS:C4022715 peter 2014-05-27T08:14:55Z human_phenotype owl:Class CHEBI:16189 biolink:NamedThing sulfate A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid. tmpxe7fu0cj_hp_relaxed.owl [SO4](2-)|sulphate|Sulfate|Sulfate anion(2-)|sulfate|Sulfate dianion|SO4(2-)|SULFATE ION|sulphate ion|tetraoxidosulfate(2-)|Sulfuric acid ion(2-)|Sulfate(2-)|tetraoxosulfate(VI)|tetraoxosulfate(2-) -2 O4S InChI=1S/H2O4S/c1-5(2,3)4/h(H2,1,2,3,4)/p-2 QAOWNCQODCNURD-UHFFFAOYSA-L 96.06360 95.95283 [O-]S([O-])(=O)=O PMID:17120760|PMID:16345535|PMID:18846414|MetaCyc:SULFATE|PMID:16534979|PMID:18815700|PMID:12668033|KEGG:C00059|PMID:11452993|PMID:16186560|PMID:11200094|PMID:16347366|PMID:11798107|PMID:18398178|PMID:14597181|Beilstein:3648446|PMID:19628332|PMID:15093386|PMID:12166931|HMDB:HMDB0001448|CAS:14808-79-8|PMID:15984785|KEGG:D05963|PMID:16348007|PMID:19244483|PMID:17709180|PMID:19047345|PMID:17420092|PMID:17439666|Reaxys:3648446|PMID:19812358|Gmelin:2120|PMID:16483812|PMID:16742508|PMID:11581495|PMID:30398859|PMID:16742518|PMID:19544990|PDBeChem:SO4|Wikipedia:Sulfate|PMID:16656509 CHEBI:9335|CHEBI:45687|CHEBI:15135 chebi_ontology owl:Class CHEBI:48154 biolink:NamedThing sulfur oxide tmpxe7fu0cj_hp_relaxed.owl sulfur oxides|oxides of sulfur|Schwefeloxide chebi_ontology owl:Class CHEBI:50263 biolink:NamedThing 2-hydroxydicarboxylic acid Any dicarboxylic acid carrying a hydroxy group on the carbon atom at position alpha to the carboxy group. tmpxe7fu0cj_hp_relaxed.owl 2-hydroxydicarboxylic acids|2-Hydroxydicarboxylic acid C3H4O5(CH2)n KEGG:C03668 CHEBI:19636|CHEBI:1154 chebi_ontology owl:Class UBERON:0001831 biolink:NamedThing parotid gland The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl parotid|glandula parotidea EMAPA:18537|UMLS:C0030580|AAO:0010095|MESH:D010306|EV:0100060|BTO:0001004|MA:0001585|FMA:59790|galen:ParotidGland|NCIT:C12427|GAID:938|EFO:0002558|OpenCyc:Mx4rvqwyg5wpEbGdrcN5Y29ycA|VHOG:0000308|CALOHA:TS-0748 The mouse parotid, exorbital lacrimal gland and exocrine pancreas have similar histological appearances[ISBN:0123813611] http://upload.wikimedia.org/wikipedia/commons/5/51/Illu_quiz_hn_02.jpg uberon owl:Class A mammalian salivary gland located caudal to the ear. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-22, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] The most common oral glands in mammals are the salivary glands. There are usually three primary pairs of salivary glands, named for their approximate positions: mandibular (submandibular or submaxillary), sublingual, and parotid.[well established][VHOG] UBERON:0015147 biolink:NamedThing pinna hair A strand of hair that is part of a pinna. tmpxe7fu0cj_hp_relaxed.owl ear hair uberon owl:Class UBERON:0022279 biolink:NamedThing strand of hair on external ear tmpxe7fu0cj_hp_relaxed.owl hair of tragus|hair of external ear|tragus hair FMA:53671 uberon owl:Class HP:0025474 biolink:NamedThing Erythematous plaque A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. tmpxe7fu0cj_hp_relaxed.owl Violaceous plaque 2017-05-14 12:38:07+00:00 HPO:probinson owl:Class HP:0200035 biolink:NamedThing Skin plaque A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0241148|SNOMEDCT_US:276322001|SNOMEDCT_US:128177006 sebastiankohler 2010-06-18T01:39:28Z human_phenotype owl:Class HP:0033339 biolink:NamedThing Increased circulating inosine concentration An increased concentration of inosine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 19:04:53+00:00 A purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. peter owl:Class HP:0004368 biolink:NamedThing Increased circulating purine concentration Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. tmpxe7fu0cj_hp_relaxed.owl Increased purine level|Increased purine levels UMLS:C4025332 peter 2008-03-18T06:31:00Z owl:Class GO:1990770 biolink:NamedThing small intestine smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry in the intestine between the stomach and the large intestine. tmpxe7fu0cj_hp_relaxed.owl sl 2015-06-11T18:02:33Z biological_process owl:Class HP:0012037 biolink:NamedThing Pectoralis amyotrophy Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. tmpxe7fu0cj_hp_relaxed.owl Wasting of pec muscles UMLS:C4023066 peter 2012-07-27T01:55:38Z human_phenotype owl:Class HP:0002883 biolink:NamedThing Hyperventilation Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. tmpxe7fu0cj_hp_relaxed.owl Rapid breathing SNOMEDCT_US:68978004|UMLS:C0020578|MSH:D006985 owl:Class UBERON:0000995 biolink:NamedThing uterus The female muscular organ of gestation in which the developing embryo or fetus is nourished until birth. tmpxe7fu0cj_hp_relaxed.owl EMAPA:29915|UMLS:C0042149|galen:Uterus|EFO:0000975|NCIT:C12405|EV:0100113|MIAA:0000127|OpenCyc:Mx4rvViojJwpEbGdrcN5Y29ycA|FMA:17558|VHOG:0001137|GAID:172|CALOHA:TS-1102|BTO:0001424|MESH:D014599|MA:0000389|MAT:0000127 Female:anatomy.png|http://upload.wikimedia.org/wikipedia/commons/6/6a/Female_reproductive_system_lateral_nolabel.png uberon owl:Class The hollow muscular organ in female mammals in which the blastocyst normally becomes embedded and in which the developing embryo and fetus is nourished. Its cavity opens into the vagina below and into a uterine tube on either side. [TFD][VHOG] An infundibulum, uterine tube, uterus, and vagina also differentiate along the oviducts of eutherian mammals.[well established][VHOG] uterine Most animals that lay eggs, such as birds and reptiles, have an oviduct instead of a uterus. In monotremes, mammals which lay eggs and include the platypus, either the term uterus or oviduct is used to describe the same organ, but the egg does not develop a placenta within the mother and thus does not receive further nourishment after formation and fertilization. Marsupials have two uteruses, each of which connect to a lateral vagina and which both use a third, middle 'vagina' which functions as the birth canal. Marsupial embryos form a choriovitelline 'placenta' (which can be thought of as something between a monotreme egg and a 'true' placenta), in which the egg's yolk sac supplies a large part of the embryo's nutrition but also attaches to the uterine wall and takes nutrients from the mother's bloodstream. Two uteruses usually form initially in a female fetus, and in placental mammals they may partially or completely fuse into a single uterus depending on the species. In many species with two uteruses, only one is functional. Humans and other higher primates such as chimpanzees, along with horses, usually have a single completely fused uterus, although in some individuals the uteruses may not have completely fused [Wikipedia:Uterus] HP:0002744 biolink:NamedThing Bilateral cleft lip and palate Cleft lip and cleft palate affecting both sides of the face. tmpxe7fu0cj_hp_relaxed.owl Bilateral cleft lip and cleft palate|Right and left cleft lip and palate SNOMEDCT_US:1085331000119107|UMLS:C1398522 human_phenotype owl:Class HP:0031604 biolink:NamedThing Agenesis of the carotid canal A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse. tmpxe7fu0cj_hp_relaxed.owl Bony carotid canal agenesis 2017-10-22 13:26:34+00:00 This abnormally is associated with Internal carotid artery (ICA) agenesis, since the ICA normally enters the skull through the carotid canal. peter owl:Class HP:0009911 biolink:NamedThing Abnormal temporal bone morphology Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the temporal bone UMLS:C4024163 peter 2009-05-01T03:33:17Z human_phenotype owl:Class HP:0011844 biolink:NamedThing Abnormal appendicular skeleton morphology An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023163 peter 2012-05-07T08:12:26Z human_phenotype owl:Class HP:0033801 biolink:NamedThing Blistering by histological location Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. tmpxe7fu0cj_hp_relaxed.owl 2021-05-08 14:55:16+00:00 peter owl:Class HP:0005645 biolink:NamedThing Intervertebral disk calcification The presence of abnormal calcium deposition of the intervertebral disk. tmpxe7fu0cj_hp_relaxed.owl Multiple intervertebral disk calcifications|Multiple intervertebral disc calcifications|Intervertebral disc calcification SNOMEDCT_US:240211000|UMLS:C0410607 human_phenotype owl:Class HP:0005108 biolink:NamedThing Abnormal intervertebral disk morphology Any structural abnormality of the intervertebral disk. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the intervertebral disk|Abnormality of the intervertebral disc UMLS:C4025249 Any abnormality of the fibrocartilaginous structures that are located between adjacent vertebral bodies. peter 2008-03-25T06:05:00Z owl:Class HP:0032970 biolink:NamedThing Traction bronchiolectasis tmpxe7fu0cj_hp_relaxed.owl Distortion of the bronchiolar airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchiolar dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as microcysts. peter owl:Class UBERON:0010533 biolink:NamedThing metanephros cortex The metanephric cortex is the outer region of the metanephros[GO]. tmpxe7fu0cj_hp_relaxed.owl VHOG:0000714 uberon owl:Class UBERON:0001225 biolink:NamedThing cortex of kidney Outer cortical portion of the kidney, between the renal capsule and the renal medulla. tmpxe7fu0cj_hp_relaxed.owl kidney cortex|renal cortex|cortex renalis MESH:D007672|BTO:0001166|EMAPA:17952|CALOHA:TS-0503|UMLS:C0022655|NCIT:C12739|MA:0000372|GAID:424|FMA:15581|galen:CortexOfKidney Illu:kidney.jpg uberon owl:Class In the adult metanephros, it forms a continuous smooth outer zone with a number of projections that extend down between the pyramids. It contains the renal corpuscles and the renal tubules except for parts of the loop of Henle which descend into the renal medulla. It also contains blood vessels and cortical collecting ducts. The renal cortex is the part of the kidney where ultrafiltration occurs.[WP] GO:0003207 biolink:NamedThing cardiac chamber formation The developmental process pertaining to the initial formation of a cardiac chamber from unspecified parts. A cardiac chamber is an enclosed cavity within the heart. tmpxe7fu0cj_hp_relaxed.owl heart chamber formation dph 2009-10-13T09:29:13Z biological_process owl:Class CHEBI:50402 biolink:NamedThing androstanoid Any steroid based on an androstane skeleton and its derivatives. tmpxe7fu0cj_hp_relaxed.owl androstanoids chebi_ontology owl:Class HP:0100811 biolink:NamedThing Aplasia/Hypoplasia of the colon Congenital absence or underdevelopment of the colon. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped colon|Absent/small colon UMLS:C4021964 doelkens 2011-06-09T01:54:57Z human_phenotype owl:Class HP:0005245 biolink:NamedThing Intestinal hypoplasia Developmental hypoplasia of the intestine. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic intestines|Underdeveloped instestine UMLS:C4021640 human_phenotype owl:Class HP:0004913 biolink:NamedThing Intermittent lactic acidemia An intermittent (discontinuous) form of lactic acidemia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844917 human_phenotype owl:Class HP:0005285 biolink:NamedThing Absent nasal bridge tmpxe7fu0cj_hp_relaxed.owl Missing nasal bridge|Agenesis of bridge of nose|Absent bridge of nose|Agenesis of nasal bridge|Missing bridge of nose|Absent nasal bridge UMLS:C1837888 human_phenotype owl:Class UBERON:0000945 biolink:NamedThing stomach An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium. tmpxe7fu0cj_hp_relaxed.owl mesenteron|anterior intestine|ventriculus|gaster|stomach chamber MESH:A03.492.766|ANISEED:1235297|UMLS:C0038351|galen:Stomach|MA:0000353|NCIT:C12391|EMAPA:17021|EV:0100070|FMA:7148|GAID:293|XAO:0000128|Wikipedia:Stomach|BTO:0001307|EHDAA:2993|EHDAA2:0001915|MAT:0000051|CALOHA:TS-0980|OpenCyc:Mx4rvVjlqpwpEbGdrcN5Y29ycA|SCTID:181246003|EFO:0000837|AAO:0000579|MIAA:0000051|TAO:0002121|VHOG:0000408 Stomach:diagram.svg uberon owl:Class Portion of alimentary canal with increased circular and longitudinal smooth muscle. Bounded posteriorly by the pyloric sphincter. Mucosal lining has increased folding.[AAO] It appears that the stomach has an ancient origin. The stomach first appears in the fish lineage. The prevertebrate chordates do not have a true stomach, whereas the cartilaginous and bony fish do. Although most fish do have a true stomach, some fish species appear to have lost the stomach secondarily. The remaining vertebrate lineages do have a true stomach (at least in the adult animal), although there is great variation in the size and shape of the stomach.[well established][VHOG] We restrict this to the vertebrate specific structure - see the grouping class 'food storage organ' for analogous structures in other species. Teleosts: Zebrafish is functionally stomach-less, but may retain ontogenic footprint. Although the precise shape and size of the stomach varies widely among different vertebrates, the relative positions of the oesophageal and duodenal openings remain relatively constant. As a result, the organ always curves somewhat to the left before curving back to meet the pyloric sphincter. However, lampreys, hagfishes, chimaeras, lungfishes, and some teleost fish have no stomach at all, with the oesophagus opening directly into the intestine. The gastric lining is usually divided into two regions, an anterior portion lined by fundic glands, and a posterior with pyloric glands. Cardiac glands are unique to mammals, and even then are absent in a number of species. The distributions of these glands vary between species, and do not always correspond with the same regions as in man. Furthermore, in many non-human mammals, a portion of the stomach anterior to the cardiac glands is lined with epithelium essentially identical to that of the oesophagus. Ruminants, in particular, have a complex stomach, the first three chambers of which are all lined with oesophageal mucosa CHEBI:35808 biolink:NamedThing citrate(2-) A tricarboxylic acid dianion obtained by deprotonation of two of the three carboxy groups of citric acid. tmpxe7fu0cj_hp_relaxed.owl Hcit|Hcit(2-)|hydrogen citrate -2 C6H6O7 190.10764 190.01135 chebi_ontology owl:Class CHEBI:133748 biolink:NamedThing citrate anion A tricarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of citric acid. tmpxe7fu0cj_hp_relaxed.owl citrate anions|citrate chebi_ontology owl:Class PR:000001809 biolink:NamedThing CD59-like glycoprotein A protein that is a translation product of the human CD59 gene, a 1:1 ortholog thereof, or pro-orthologs thereof. This gene is present as a single copy in human and has undergone a lineage-specific duplication in mouse. CD59 antigen has a core architecture consisting of one UPAR/Ly-6 domain (Pfam:PF00021), a small domain of about 70 amino acids and containing 5 conserved disulfide bonds. It is both N- and O-glycosylated and is a GPI-anchored protein that releases soluble forms in some tissues. tmpxe7fu0cj_hp_relaxed.owl PIRSF:PIRSF038782 Category=gene. Requested by=CL. Pro-orthology refers to, in this case, after-speciation gene duplication in the non-human species (aka 1:many orthology). protein owl:Class HP:0009073 biolink:NamedThing Progressive proximal muscle weakness Lack of strength of the proximal muscles that becomes progressively more severe. tmpxe7fu0cj_hp_relaxed.owl Muscle weakness, progressive, proximal UMLS:C1836156 Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. HP:0008965 human_phenotype owl:Class GO:0048318 biolink:NamedThing axial mesoderm development The process whose specific outcome is the progression of the axial mesoderm over time, from its formation to the mature structure. The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0041144 biolink:NamedThing Fractured clavicle bone A partial or complete breakage of the clavicle bone. tmpxe7fu0cj_hp_relaxed.owl bone clavicle bone owl:Class HP:0040092 biolink:NamedThing Asymmetry of the shape of the ears tmpxe7fu0cj_hp_relaxed.owl Asymmetry of the shape of the ears UMLS:C4022445 HPO:skoehler owl:Class HP:0010722 biolink:NamedThing Asymmetry of the ears An asymmetriy, i.e., difference in size, shape or position between the left and right ear. tmpxe7fu0cj_hp_relaxed.owl Asymmetric ears UMLS:C1168239 sdoelken 2010-04-20T10:11:45Z human_phenotype owl:Class GO:0055006 biolink:NamedThing cardiac cell development The process whose specific outcome is the progression of a cardiac cell over time, from its formation to the mature state. A cardiac cell is a cell that will form part of the cardiac organ of an individual. tmpxe7fu0cj_hp_relaxed.owl cardiocyte development|heart cell development biological_process owl:Class HP:0410170 biolink:NamedThing Hippocampal atrophy Partial or complete wasting (loss) of hippocampus tissue that was once present. tmpxe7fu0cj_hp_relaxed.owl Degeneration of the hippocampus|Atrophy of the hippocampus 2018-05-07 18:29:30+00:00 The hippocampus is part of the temporal cortex (albeit allocortex rather than neocortex). owl:Class HP:0007112 biolink:NamedThing Temporal cortical atrophy Atrophy of the temporal cortex. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024936 human_phenotype owl:Class HP:0011508 biolink:NamedThing Macular hole A macular hole is a small break in the macula, located in the center of the retina. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0024441|MSH:D012167|SNOMEDCT_US:232006002 peter 2012-04-06T09:39:58Z human_phenotype owl:Class UBERON:0008596 biolink:NamedThing mentalis muscle A muscle of facial expression, innervated by the facial nerve, attached to the skin of the lower lip and inferior to the lower lip (in humans this region is called the chin or mental region), the orbicularis oris muscle, and the mandible in the symphyseal region. See Diogo et al., 2009; Burrows et al., 2011). tmpxe7fu0cj_hp_relaxed.owl musculus mentalis|mentalis FMA:46825|MFMO:0000122 http://upload.wikimedia.org/wikipedia/commons/3/37/Mentalis.png uberon owl:Class HP:0031772 biolink:NamedThing Abnormal posterior circulating artery morphology Any structural anomaly of the posterior circulating artery (PCOM). tmpxe7fu0cj_hp_relaxed.owl 2018-01-27 11:25:13+00:00 The posterior circulating artery (PCOM) forms the posterior portion of the circle of Willis, connecting the interior carotid artery (proximal to its bifurcation into the anterior cerebral artery and the middle cerebral artery) with the posterior cerebral artery. peter owl:Class HP:0012518 biolink:NamedThing Abnormal circle of Willis morphology An anomaly of the circle of Willis, also known as the cerebral arterial circle. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the cerebral arterial circle UMLS:C4022868 The circle of Willis is a circulatory anastomosis in the brain comprised of the anterior cerebral arteries, the anterior communicating artery, the internal carotid arteries, the posterior cerebral arteries, and the posterior communicating arteries. peter 2013-12-09T07:03:02Z human_phenotype owl:Class GO:0002369 biolink:NamedThing T cell cytokine production Any process that contributes to cytokine production by a T cell. tmpxe7fu0cj_hp_relaxed.owl T lymphocyte cytokine production|T-lymphocyte cytokine production|T-cell cytokine production Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select one of the 'regulation' children terms. biological_process owl:Class GO:0002367 biolink:NamedThing cytokine production involved in immune response The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus contributing to an immune response, resulting in an increase in its intracellular or extracellular levels. tmpxe7fu0cj_hp_relaxed.owl cytokine secretion involved in immune response|cytokine secretion during immune response|cytokine biosynthetic process involved in immune response|cytokine production during immune response Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select one of the 'regulation' children terms. GO:0002374|GO:0002375 biological_process owl:Class HP:0041069 biolink:NamedThing Chronic (near) absent circulating IgG1 A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured. tmpxe7fu0cj_hp_relaxed.owl Chronic (near) absent IgG1 in blood owl:Class HP:0041068 biolink:NamedThing Chronic decreased circulating IgG1 A lasting decrease of immunoglobulin G1 (IgG1) in the blood. tmpxe7fu0cj_hp_relaxed.owl Chronic decreased IgG1 in blood owl:Class HP:0045035 biolink:NamedThing Decreased urinary copper concentration tmpxe7fu0cj_hp_relaxed.owl Decreased urinary copper concentration UMLS:C4073164 HPO:skoehler owl:Class HP:0032360 biolink:NamedThing Decreased pre-bronchodilator forced expiratory flow 25-75% A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication. tmpxe7fu0cj_hp_relaxed.owl Decreased pre-bronchodilator FEF25-75%|Decreased prebronchodilator forced expiratory flow 25-75%|Decreased pre bronchodilator forced expiratory flow 25-75% 2019-02-23 17:15:58+00:00 peter owl:Class HP:0032359 biolink:NamedThing Decreased forced expiratory flow 25-75% A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. tmpxe7fu0cj_hp_relaxed.owl Decreased FEF25-75% 2019-02-23 17:12:34+00:00 peter owl:Class PATO:0000498 biolink:NamedThing increased duration A duration quality of a process which is relatively high. tmpxe7fu0cj_hp_relaxed.owl slow time|increased period|increased time|prolonged period|chronic|high time PATO:0000715 quality owl:Class UBERON:0005729 biolink:NamedThing pectoral appendage field A limb/fin field that has the potential to develop into a pectoral appendage bud mesenchyme. tmpxe7fu0cj_hp_relaxed.owl pectoral appendage field of lateral plate mesoderm|pectoral fin field ZFA:0001453|TAO:0001453 uberon owl:Class Embryonic region that develops into the pectoral fin bud.[TAO] HsapDv:0000204 biolink:NamedThing mature stage Human developmental stage that refers to a sexually mature human. tmpxe7fu0cj_hp_relaxed.owl UBERON:0000113 human_developmental_stage 13.0 owl:Class GO:0003236 biolink:NamedThing sinus venosus morphogenesis The process in which the sinus venosus is generated and organized. The sinus venosus is a heart chamber attached to the atrium on the venous side of the embryonic heart. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T11:16:52Z biological_process owl:Class HP:0040262 biolink:NamedThing Glue ear Middle ear is filled with glue-like fluid instead of air. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0029883|SNOMEDCT_US:78868004|MSH:D010034 http://patient.info/health/glue-ear-leaflet owl:Class HP:0100257 biolink:NamedThing Ectrodactyly A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. tmpxe7fu0cj_hp_relaxed.owl Lobster claw hand|Cleft hand SNOMEDCT_US:13624003|UMLS:C0265554|MSH:C574275|SNOMEDCT_US:81208006 Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severly affected family member is seen. doelkens 2010-07-15T03:56:58Z owl:Class UBERON:0004481 biolink:NamedThing musculature of upper limb Any collection of muscles that is part of a forelimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl free upper limb musculature|musculature of free upper limb|set of muscles of free upper limb|muscle group of free upper limb FMA:50396 currently defined by location rather than attachment uberon owl:Class UBERON:0004782 biolink:NamedThing gastrointestinal system serosa A serous membrane that is part of a digestive system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl digestive system serous membrane|serous membrane of digestive system|gastrointestinal system serous membrane|serous membrane of gastrointestinal system|serosa of digestive system|serosa of gastrointestinal system|digestive system serosa MA:0001522|EMAPA:37592 uberon owl:Class HP:0031926 biolink:NamedThing Homer Wright rosette A type of rosette in which the central lumen or hub is filled with fiber-like processes. tmpxe7fu0cj_hp_relaxed.owl 2018-07-04 13:24:50+00:00 The delicate fibrillary material found within the central lumen of the Homer Wright rosette is composed of neuropil, which contains primitive neuronal processes or neurites. The typical Homer Wright rosette with its central lumen or hub filled with fiber-like processes can also be found in medulloblastomas and histologically similar tumors occurring outside of the cerebellum, designated PNETs. peter owl:Class HP:0031925 biolink:NamedThing Rosette A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub. tmpxe7fu0cj_hp_relaxed.owl 2018-07-04 13:22:47+00:00 Rosettes are named for the flower-like architectural ornament, this pattern resembles the rose windows found in many gothic cathedrals. Rosettes may be considered primary or secondary manifestations of tumor architecture. Primary rosettes form as a characteristic growth pattern of a given tumor type, whereas secondary rosettes result from the influence of external factors on tumor growth. peter owl:Class CHEBI:25500 biolink:NamedThing neopterins tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class UBERON:0009708 biolink:NamedThing dorsal pancreas tmpxe7fu0cj_hp_relaxed.owl pancreatis dorsalis EHDAA2:0001371 uberon owl:Class UBERON:0000204 biolink:NamedThing ventral part of telencephalon Ventral part (base region) of the telencephalon. tmpxe7fu0cj_hp_relaxed.owl ventral telencephalon|subpallium|area ventralis telencephali TAO:0000304|BTO:0003401|DMBA:15751|ZFA:0000304|EFO:0003522 cjm 2009-04-18T12:12:27Z uberon owl:Class BTO term refers specifically to the avian structure GO:0009081 biolink:NamedThing branched-chain amino acid metabolic process The chemical reactions and pathways involving amino acids containing a branched carbon skeleton, comprising isoleucine, leucine and valine. tmpxe7fu0cj_hp_relaxed.owl branched chain family amino acid metabolism biological_process owl:Class UBERON:0003530 biolink:NamedThing pedal digit skin A zone of skin that is part of a toe [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl skin of terminal segment of free lower limb digit|terminal segment of free lower limb digit skin|foot digit skin|digitus pedis skin|skin of digit of foot|digit of foot skin|hind limb digit skin|skin of foot digit|toe skin|skin of digit of terminal segment of free lower limb|skin of toe|digit of terminal segment of free lower limb skin|skin of digitus pedis FMA:37852|EMAPA:32942|NCIT:C52719|MA:0000650|UMLS:C1708089 uberon owl:Class HP:0025432 biolink:NamedThing Acanthoma A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 15:58:05+00:00 HPO:probinson owl:Class UBERON:0015834 biolink:NamedThing duodenum lamina propria A lamina propria that is part of a duodenum. tmpxe7fu0cj_hp_relaxed.owl lamina propria mucosae of duodenum|duodenal lamina propria|lamina propria of duodenum FMA:15972|MA:0003209|EMAPA:27255 uberon owl:Class UBERON:0001238 biolink:NamedThing lamina propria of small intestine Lamina propria that is part_of the small intestine. tmpxe7fu0cj_hp_relaxed.owl lamina propria mucosae of small intestine|small bowel lamina propria mucosa|lamina propria mucosa of small bowel|lamina propria mucosa of small intestine|small intestine lamina propria mucosae|small intestine lamina propria mucosa|small bowel lamina propria|lamina propria of small bowel|lamina propria mucosae of small bowel|small intestine lamina propria|lamina propria of mucosa of small intestine|small bowel lamina propria mucosae UMLS:C1711325|NCIT:C49297|EMAPA:35779|MA:0001554|FMA:15651 uberon owl:Class HP:0025197 biolink:NamedThing Inclusion body fibromatosis A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration. tmpxe7fu0cj_hp_relaxed.owl Infantile digital fibroma|Infantile digital fibromatosis|Digital fibrous tumor of Reye|Digital fibrous tumour of Reye 2016-12-05 11:28:28+00:00 HPO:probinson owl:Class HP:0012316 biolink:NamedThing Fibrous tissue neoplasm Any neoplasm composed of fibrous tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0206643|MSH:D018218 peter 2013-08-10T12:31:38Z human_phenotype owl:Class HP:0011571 biolink:NamedThing Parachute mitral valve Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:204362007|UMLS:C0546965 peter 2012-04-08T08:47:46Z human_phenotype owl:Class HP:0100817 biolink:NamedThing Renovascular hypertension The presence of hypertension related to stenosis of the renal artery. tmpxe7fu0cj_hp_relaxed.owl Hypertension due to renal artery hyperplasia MSH:D006978|UMLS:C0020545|SNOMEDCT_US:123799005 Renal artery stenosis can lead to hypertension and chronic kidney disease (due to chronic renal ischemia). The hypertension is caused by activation of the renin-angiotensin-aldosterone system. doelkens 2011-06-09T04:48:35Z HP:0008741 human_phenotype owl:Class CHEBI:48937 biolink:NamedThing phytane tmpxe7fu0cj_hp_relaxed.owl Phytan|2,6,10,14-tetramethylhexadecane 0 C20H42 InChI=1S/C20H42/c1-7-18(4)12-9-14-20(6)16-10-15-19(5)13-8-11-17(2)3/h17-20H,7-16H2,1-6H3 GGYKPYDKXLHNTI-UHFFFAOYSA-N 282.54748 282.32865 CCC(C)CCCC(C)CCCC(C)CCCC(C)C CAS:638-36-8|Beilstein:1744639 chebi_ontology owl:Class CHEBI:35190 biolink:NamedThing diterpene A C20 terpene. tmpxe7fu0cj_hp_relaxed.owl diterpenes|Diterpen|diterpenos|diterpeno chebi_ontology owl:Class CHEBI:32860 biolink:NamedThing valinium tmpxe7fu0cj_hp_relaxed.owl 1-carboxy-2-methylpropan-1-aminium|H2val(+)|valine cation|valinium +1 C5H12NO2 InChI=1S/C5H11NO2/c1-3(2)4(6)5(7)8/h3-4H,6H2,1-2H3,(H,7,8)/p+1 KZSNJWFQEVHDMF-UHFFFAOYSA-O 118.15432 118.08626 CC(C)C([NH3+])C(O)=O Gmelin:1651060 chebi_ontology owl:Class GO:0009914 biolink:NamedThing hormone transport The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0010817 biolink:NamedThing regulation of hormone levels Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025547 biolink:NamedThing Decreased mean corpuscular hemoglobin concentration A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. tmpxe7fu0cj_hp_relaxed.owl Decreased MCH|Decreased mean corpuscular Hb concentration|Decreased MCHC|Decreased mean corpuscular haemoglobin concentration|Decreased mean corpuscular haemoglobin 2017-07-09 12:28:40+00:00 HPO:probinson owl:Class HP:0025546 biolink:NamedThing Abnormal mean corpuscular hemoglobin concentration A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. tmpxe7fu0cj_hp_relaxed.owl Abnormal MCHC|Abnormal MCH|Abnormal mean corpuscular haemoglobin|Abnormal mean corpuscular haemoglobin concentration|Abnormal mean corpuscular Hb concentration 2017-07-09 12:25:23+00:00 HPO:probinson owl:Class HP:4000034 biolink:NamedThing Infection-ssociated lymphopenia Decreased lymphocyte count during infections. tmpxe7fu0cj_hp_relaxed.owl Infection-ssociated lymphocytopenia 2021-05-02 15:19:12+00:00 robinp owl:Class HP:0041067 biolink:NamedThing Transient decreased circulating IgG1 A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Transient decreased IgG1 in blood owl:Class HP:0002916 biolink:NamedThing Abnormality of chromosome segregation An abnormality of chromosome segregation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025670 human_phenotype owl:Class HP:0011017 biolink:NamedThing Abnormal cellular physiology An abnormality in a cellular process. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cell physiology UMLS:C4023595 peter 2011-02-22T07:05:50Z HP:0025462 human_phenotype owl:Class HP:0100058 biolink:NamedThing Enlarged epiphyses of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the 3rd toe bone UMLS:C4022363 doelkens 2010-06-24T09:58:55Z human_phenotype owl:Class HP:0100699 biolink:NamedThing Scarring tmpxe7fu0cj_hp_relaxed.owl Scar tissue|Scarring UMLS:C0008767|SNOMEDCT_US:48677004|MSH:D002921 koehlers 2011-03-29T06:39:56Z human_phenotype owl:Class UBERON:0016913 biolink:NamedThing frenulum of lower lip A frenulum of lip that is part of a lower lip. tmpxe7fu0cj_hp_relaxed.owl f. labii inferioris|frenulum labii inferioris|lower lip frenulum FMA:59822 uberon owl:Class HP:0030284 biolink:NamedThing Triangular tongue A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle. tmpxe7fu0cj_hp_relaxed.owl Triangular tongue|Triangle shaped tongue UMLS:C4022537 owl:Class HP:0000158 biolink:NamedThing Macroglossia Increased length and width of the tongue. tmpxe7fu0cj_hp_relaxed.owl Lingual hyperplasia|Large tongue|Hyperplasia of the tongue|Tongue hypertrophy|Lingual hypertrophy|Increased size of tongue|Abnormally large tongue|Glossal hypertrophy|Hypertrophy of the tongue SNOMEDCT_US:25273001|UMLS:C0024421|MSH:D008260 Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue. HP:0000203 human_phenotype owl:Class UBERON:0003521 biolink:NamedThing pes blood vessel A blood vessel that is part of a foot [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl foot blood vessel|blood vessel of foot EMAPA:37301|MA:0000642 uberon owl:Class GO:1905475 biolink:NamedThing regulation of protein localization to membrane Any process that modulates the frequency, rate or extent of protein localization to membrane. tmpxe7fu0cj_hp_relaxed.owl regulation of protein localisation in membrane|regulation of protein localization in membrane bc 2016-09-21T16:20:03Z biological_process owl:Class HP:0010787 biolink:NamedThing Genital neoplasm A tumor (abnormal growth of tissue) of the genital system. tmpxe7fu0cj_hp_relaxed.owl Genital tumour|Genital tumor|Genital neoplasia UMLS:C0679347|NCIT:C3262|UMLS:C4020767 sdoelken 2010-05-04T09:47:50Z human_phenotype owl:Class HP:0031306 biolink:NamedThing Intracranial arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial). tmpxe7fu0cj_hp_relaxed.owl 2017-08-26 21:30:38+00:00 peter owl:Class UBERON:0006355 biolink:NamedThing superior vesical vein tmpxe7fu0cj_hp_relaxed.owl MA:0002227|EMAPA:18646 inferred from artery uberon owl:Class HP:0030955 biolink:NamedThing Alcoholism An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol. tmpxe7fu0cj_hp_relaxed.owl 2017-01-13 22:59:58+00:00 robinp owl:Class HP:0030858 biolink:NamedThing Addictive behavior A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains. tmpxe7fu0cj_hp_relaxed.owl Addictive behaviour UMLS:C0085281|MSH:D016739|SNOMEDCT_US:32709003 Several behaviors, besides psychoactive substance ingestion, produce short-term reward that may engender persistent behavior despite knowledge of adverse consequences, i.e., diminished control over the behavior. owl:Class PATO:0002096 biolink:NamedThing neoplastic, non-malignant A disposition inhering in a tumour by virtue of the bearer's disposition not to progress, invade surrounding tissues or metastasize. tmpxe7fu0cj_hp_relaxed.owl benign 2009-10-05T12:47:14Z quality owl:Class HP:0025237 biolink:NamedThing Confusional arousal A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours. tmpxe7fu0cj_hp_relaxed.owl 2016-12-14 12:07:36+00:00 HPO:probinson owl:Class HP:0025235 biolink:NamedThing Non-rapid eye movement parasomnia A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep). tmpxe7fu0cj_hp_relaxed.owl NREM parasomnia 2016-12-14 11:55:11+00:00 NREM parasomnias usually occur within a few hours after sleep onset, episodes last from a few minutes to as long as 30-40 min, and are characterised by amnesia for the event. HPO:probinson owl:Class GO:0050770 biolink:NamedThing regulation of axonogenesis Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010185 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanges of the toes Absence or underdevelopment of the distal phalanges of the toes. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped outermost bones of toe|Absent/hypoplastic terminal phalanges of toes|Absent/small outermost bones of toe|Hypoplasia/agenesis of distal phalanges of toes UMLS:C4020773|UMLS:C4021326 doelkens 2009-05-29T01:52:41Z HP:0005735|HP:0005818 human_phenotype owl:Class HP:0004580 biolink:NamedThing Anterior scalloping of vertebral bodies An excessive concavity of the anterior surface of one or more vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl Anterior scalloping vertebral bodies UMLS:C2673652 One cause of anterior scalloping is an aortic aneurysm, which because of its pulsatile pressure can cause a convex defect along the anterior surface of an adjacent vertebra body. The defect may have a sclerotic margin. human_phenotype owl:Class HP:0004586 biolink:NamedThing Biconcave vertebral bodies Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. tmpxe7fu0cj_hp_relaxed.owl Fish vertebrae|Scalloping of vertebral bodies|Biconcave 'codfish' vertebrae|Biconcave vertebrae|Codfish vertebrae UMLS:C1856087 This finding has been called fish or codfish vertebra because of the characteristic biconcave form of fish vertebral bodies. HP:0004620|HP:0002952|HP:0004561 human_phenotype owl:Class UBERON:0035313 biolink:NamedThing posterior wall of laryngopharynx tmpxe7fu0cj_hp_relaxed.owl posterior wall of hypopharynx FMA:55063|NCIT:C12249 uberon owl:Class GO:0006796 biolink:NamedThing phosphate-containing compound metabolic process The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. tmpxe7fu0cj_hp_relaxed.owl phosphate metabolic process|phosphate metabolism biological_process owl:Class HP:0012677 biolink:NamedThing Iron accumulation in globus pallidus An abnormal build up of iron (Fe) in the globus pallidus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022786 hecht 2014-03-13T07:29:37Z human_phenotype owl:Class HP:0012675 biolink:NamedThing Iron accumulation in brain An abnormal build up of iron (Fe) in brain tissue. tmpxe7fu0cj_hp_relaxed.owl Brain iron deposition|Iron accumulation in brain UMLS:C4021076 hecht 2014-03-13T07:22:40Z human_phenotype owl:Class GO:0060479 biolink:NamedThing lung cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features of a mature cell found in the lung. Differentiation includes the processes involved in commitment of a cell to a specific fate. tmpxe7fu0cj_hp_relaxed.owl pulmonary cell differentiation biological_process owl:Class NCBITaxon:186623 biolink:NamedThing Actinopteri tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0010762 biolink:NamedThing Chordoma A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis. tmpxe7fu0cj_hp_relaxed.owl NCIT:C2947|MSH:D002817|UMLS:C0008487|SNOMEDCT_US:50007008 The notochord is a mesodermal embryonic structure that defines the primitive axis of the embryo and which survives in the adult vertebral column as the intervertebral disks. peter 2010-06-25T09:00:39Z human_phenotype owl:Class HP:0025307 biolink:NamedThing Acute emergence over hours Acute appearance of disease manifestations in a period of hours. tmpxe7fu0cj_hp_relaxed.owl 2016-12-21 01:01:25+00:00 HPO:probinson owl:Class HP:0011009 biolink:NamedThing Acute Sudden appearance of disease manifestations over a short period of time. tmpxe7fu0cj_hp_relaxed.owl Acute onset UMLS:C0205178|SNOMEDCT_US:272118002 The word acute is applied to different time scales depending on the disease or manifestation and does not have an exact definition in minutes, hours, or days. peter 2011-02-20T10:23:18Z owl:Class HP:0041209 biolink:NamedThing Fractured epiphysis of middle phalanx of manus A partial or complete breakage of the epiphysis of middle phalanx of manus. tmpxe7fu0cj_hp_relaxed.owl bone epiphysis of middle phalanx of manus owl:Class UBERON:0003229 biolink:NamedThing epithelium of elbow An epithelium that is part of a elbow [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of cubital region|epithelial tissue of elbow|epithelium of cubital region|elbow epithelium|elbow epithelial tissue|cubital region epithelial tissue|cubital region epithelium EHDAA2:0000430|EMAPA:17415|VHOG:0001044|EHDAA:6214|EHDAA:4168 uberon owl:Class HP:0032722 biolink:NamedThing Focal aware tonic seizure A type of focal tonic seizure during which awareness is fully retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0008967 biolink:NamedThing Exercise-induced muscle stiffness A type of muscle stiffness that occurs following physical exertion. tmpxe7fu0cj_hp_relaxed.owl Exercise-induced muscle stiffness|Muscle stiffness, exercise-induced|Muscle stiffness with exercise UMLS:C1855579 HP:0003633 human_phenotype owl:Class UBERON:0005597 biolink:NamedThing lung primordium A pair of lateral diverticula just over the liver rudiment representing the primordia of the lungs, formed by the floor of the foregut just anterior to the liver diverticulum. tmpxe7fu0cj_hp_relaxed.owl lung diverticulum|lateral diverticula|lung endoderm AAO:0011059|EFO:0002578|XAO:0001002|EMAPA:36007 uberon owl:Class HP:0000041 biolink:NamedThing Chordee Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0221182|SNOMEDCT_US:4287008 The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the former, it can be associated with Webbed Penis or Hypospadias, which should be coded separately. human_phenotype owl:Class HP:0030581 biolink:NamedThing Pinhole visual acuity 1.3 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073054 owl:Class HP:0006290 biolink:NamedThing Discolored lateral incisors The presence of discolored lateral incisors. tmpxe7fu0cj_hp_relaxed.owl Discoloured lateral incisors|Abnormality of colour of lateral incisor|Abnormality of colour of front teeth|Abnormality of color of front teeth|Discolored front teeth|Abnormality of shade of lateral incisor|Discoloured front teeth|Abnormality of color of lateral incisor UMLS:C1866510|UMLS:C4280459 human_phenotype owl:Class HP:0009101 biolink:NamedThing Submucous cleft lip A cleft of the lip with overlying mucous membrane. tmpxe7fu0cj_hp_relaxed.owl Submucous labial cleft UMLS:C1839277 Submucous cleft lip may lead to increased nasal resonance. human_phenotype owl:Class UBERON:0009551 biolink:NamedThing distal segment of digit A segment of a digit containing the distal phalanx, and overlapping the distal interphalangeal joint[CJM]. The digit tip is derived from multiple and distinct embryonic origins, and includes the distal bone with associated marrow cavity and haematopoietic cells, ventral (flexor) and dorsal (extensor) tendons, sweat glands with myoepithelial and luminal secreting cells and associated neurons for innervation, dermis with resident melanocytes and dendritic cells, mesenchyme with resident fibroblasts, skin epidermis with hair follicles, a nail organ composed of six specific parts (the root, nail bed, nail plate, eponychium (cuticle), perionychium and hyponychium). tmpxe7fu0cj_hp_relaxed.owl tip of digit|distal digit segment|digit tip uberon owl:Class Newborn and adult mice are able to regrow forelimb (finger) and hindlimb (toe) digit tips after their amputation through the distal interphalangeal joint. Regeneration of the digit tip involves the integrated regrowth of multiple tissues within 2-3 months, reaching an external morphology that is cosmetically and functionally similar to normal digits. Most importantly, regeneration of the mouse distal digit shares morphological similarities with clinical cases documenting regrowth of missing distal portions of fingers in both children and adults GO:1903553 biolink:NamedThing positive regulation of extracellular exosome assembly Any process that activates or increases the frequency, rate or extent of extracellular vesicular exosome assembly. tmpxe7fu0cj_hp_relaxed.owl activation of extracellular vesicular exosome assembly|positive regulation of extracellular vesicular exosome assembly|up-regulation of extracellular vesicular exosome assembly|upregulation of extracellular vesicular exosome assembly|up regulation of extracellular vesicular exosome assembly pga 2014-10-20T15:37:42Z biological_process owl:Class GO:1902117 biolink:NamedThing positive regulation of organelle assembly Any process that activates or increases the frequency, rate or extent of organelle assembly. tmpxe7fu0cj_hp_relaxed.owl upregulation of organelle assembly|up regulation of organelle assembly|activation of organelle assembly|up-regulation of organelle assembly pr 2013-05-14T09:43:36Z biological_process owl:Class GO:0010968 biolink:NamedThing regulation of microtubule nucleation Any process that modulates the rate, frequency or extent of microtubule nucleation. Microtubule nucleation is the 'de novo' formation of a microtubule, in which tubulin heterodimers form metastable oligomeric aggregates, some of which go on to support formation of a complete microtubule. Microtubule nucleation usually occurs from a specific site within a cell. tmpxe7fu0cj_hp_relaxed.owl tb 2009-05-20T11:51:21Z biological_process owl:Class UBERON:0015179 biolink:NamedThing somite boundary epithelium Epithelium located in the intersomitic region. tmpxe7fu0cj_hp_relaxed.owl intersomitic membrane|intersomitic epithelium XAO:0004077 uberon owl:Class HP:0025728 biolink:NamedThing Periventricular pseudocyst Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns. tmpxe7fu0cj_hp_relaxed.owl Previously, periventricular leukomalacia and periventricular pseudocysts (PVPC) have been confused. PVPC are found below the external angle of the lateral ventricles whereas periventricular leukomalacia is located above it and has a different prognosis. peterrobinson owl:Class GO:1904776 biolink:NamedThing regulation of protein localization to cell cortex Any process that modulates the frequency, rate or extent of protein localization to cell cortex. tmpxe7fu0cj_hp_relaxed.owl regulation of protein localisation to cell cortex An example is cye-1 in C. elegans, UniProt ID O01501 in PMID:17115027. es 2015-10-29T16:55:01Z biological_process owl:Class UBERON:0004925 biolink:NamedThing submucosa of laryngopharynx A submucosa that is part of a hypopharynx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl tela submucosa (pars laryngea pharyngis)|submucosa of laryngeal pharynx|laryngopharynx submucosa|laryngeal pharynx submucosa|hypopharynx submucosa|submucosa of hypopharynx FMA:55072 uberon owl:Class GO:0060136 biolink:NamedThing embryonic process involved in female pregnancy A reproductive process occurring in the embryo or fetus that allows the embryo or fetus to develop within the mother. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009332 biolink:NamedThing Abnormality of the epiphysis of the distal phalanx of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the outermost bone of the middle finger UMLS:C4024435 doelkens 2009-01-12T11:16:06Z human_phenotype owl:Class HP:0032757 biolink:NamedThing Focal aware hemiclonic seizure A focal hemiclonic seizure in which awareness is retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0006813 biolink:NamedThing Focal hemiclonic seizure A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset. tmpxe7fu0cj_hp_relaxed.owl Unilateral clonic seizure|Unilateral clonic seizures|Hemiclonic seizure|Hemiclonic seizures UMLS:C1846620 A seizure type typically occurring in certain epilepsy syndromes, such as Dravet syndrome and self-limited neonatal seizures. human_phenotype owl:Class GO:2000979 biolink:NamedThing positive regulation of forebrain neuron differentiation Any process that activates or increases the frequency, rate or extent of forebrain neuron differentiation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-08-03T12:09:19Z biological_process owl:Class HP:0011567 biolink:NamedThing Sinus venosus atrial septal defect An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:95268002|UMLS:C0344730|Fyler:2010|MSH:C548009|ICD-10:Q21.1 peter 2012-04-08T08:15:24Z human_phenotype owl:Class HP:0005563 biolink:NamedThing Decreased numbers of nephrons A reduction in the count of nephrons per kidney. tmpxe7fu0cj_hp_relaxed.owl Decreased numbers of glomeruli|Oligonephronia UMLS:C1841994|UMLS:C2673888 human_phenotype owl:Class HP:0012575 biolink:NamedThing Abnormal nephron morphology A structural anomaly of the nephron. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the nephron UMLS:C4022838 peter 2014-01-16T12:49:04Z human_phenotype owl:Class CHEBI:32926 biolink:NamedThing octadecane A straight-chain alkane carrying 18 carbon atoms. tmpxe7fu0cj_hp_relaxed.owl Oktadekan|octadecane|n-octadecane|CH3-[CH2]16-CH3 0 C18H38 InChI=1S/C18H38/c1-3-5-7-9-11-13-15-17-18-16-14-12-10-8-6-4-2/h3-18H2,1-2H3 RZJRJXONCZWCBN-UHFFFAOYSA-N 254.49430 254.29735 CCCCCCCCCCCCCCCCCC Reaxys:1740138|Beilstein:1740138|KNApSAcK:C00030879|Gmelin:263389|CAS:593-45-3|PMID:9842728 chebi_ontology owl:Class CHEBI:83563 biolink:NamedThing long-chain alkane Any alkane having a chain length of at least 13 carbon atoms. tmpxe7fu0cj_hp_relaxed.owl a long-chain alkane 0 HR 1.008 1.00783 *[H] chebi_ontology owl:Class HP:0032029 biolink:NamedThing Floppy eyelid Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis. tmpxe7fu0cj_hp_relaxed.owl 2018-09-01 14:47:22+00:00 peter owl:Class HP:0007042 biolink:NamedThing Focal white matter lesions tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024946 ORCID:0000-0002-5316-1399 owl:Class GO:0007589 biolink:NamedThing body fluid secretion The controlled release of a fluid by a cell or tissue in an animal. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025236 biolink:NamedThing Somnambulism Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated. tmpxe7fu0cj_hp_relaxed.owl Sleep walking 2016-12-14 12:01:00+00:00 During an episode of sleepwalking, the sonambulating child typically appears clumsy and might perform unusual actions such as urinating in a closet. Injuries can occur during sleepwalking, including falling downstairs or after leaving the house. HPO:probinson owl:Class GO:1901701 biolink:NamedThing cellular response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. tmpxe7fu0cj_hp_relaxed.owl cellular response to oxygen molecular entity pr 2012-12-13T15:11:42Z biological_process owl:Class HP:0007620 biolink:NamedThing Cutaneous leiomyoma The presence of leiomyoma of the skin. tmpxe7fu0cj_hp_relaxed.owl Cutaneous leiomyomas|Cutaneous leiomyomata SNOMEDCT_US:254767008|NCIT:C3157|UMLS:C0346064 Cutaneous leiomyomata are benign soft tissue neoplasms that arise from smooth muscle cells in the skin. HP:0007507 human_phenotype owl:Class GO:0002312 biolink:NamedThing B cell activation involved in immune response The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. tmpxe7fu0cj_hp_relaxed.owl B cell activation during immune response|B-cell activation during immune response|B lymphocyte activation during immune response|B-lymphocyte activation during immune response biological_process owl:Class GO:0042113 biolink:NamedThing B cell activation The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. tmpxe7fu0cj_hp_relaxed.owl B-lymphocyte activation|B-cell activation|B lymphocyte activation biological_process owl:Class UBERON:0012467 biolink:NamedThing enclosed anatomical space An anatomical space with no opening to another space or to the exterior. tmpxe7fu0cj_hp_relaxed.owl closed anatomical space AEO:0000222 uberon owl:Class HP:0001879 biolink:NamedThing Abnormal eosinophil morphology An abnormal count or structure of eosinophils. tmpxe7fu0cj_hp_relaxed.owl Abnormality of eosinophils UMLS:C4025738 Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged. human_phenotype owl:Class HP:0030222 biolink:NamedThing Visual agnosia Difficulty in recognizing objects by visual input in absence of sensorial visual impairment. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0234502|SNOMEDCT_US:25762009|MSH:D000377 owl:Class UBERON:0001456 biolink:NamedThing face A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc). tmpxe7fu0cj_hp_relaxed.owl facia/facies|visage galen:Face|GAID:64|HAO:0000316|MESH:D005145|NCIT:C13071|SCTID:302549007|OpenCyc:Mx4rvVi5GZwpEbGdrcN5Y29ycA|EMAPA:32763|FMA:24728|MA:0002473|Wikipedia:Face|UMLS:C0015450|CALOHA:TS-2216|BTO:0003369 http://upload.wikimedia.org/wikipedia/commons/5/55/Mona_Lisa_headcrop.jpg uberon owl:Class The area that extends from the median ocellus to the oral foramen[HAO].|Subdivision of head which consists of the viscerocranium and all layers superficial to it. Examples: There is only one face. facial The face develops from outward growth of tissue located rostral to the cranium & pharynx. The lower jaw and most of the upper jaw are formed by growth of the first pharyngeal (branchial) arch. The upper incisor region and the nose and forehead (frontal region) are formed from tissue located rostral to the neural tube (frontonasal prominence) UBERON:0000390 biolink:NamedThing lens nucleus The core of the crystalline lens, surrounded by the cortex. tmpxe7fu0cj_hp_relaxed.owl nucleus of lens MESH:A09.371.509.670|BTO:0001633|SCTID:280628007|FMA:58971 uberon owl:Class GO:0071897 biolink:NamedThing DNA biosynthetic process The cellular DNA metabolic process resulting in the formation of DNA, deoxyribonucleic acid, one of the two main types of nucleic acid, consisting of a long unbranched macromolecule formed from one or two strands of linked deoxyribonucleotides, the 3'-phosphate group of each constituent deoxyribonucleotide being joined in 3',5'-phosphodiester linkage to the 5'-hydroxyl group of the deoxyribose moiety of the next one. tmpxe7fu0cj_hp_relaxed.owl DNA synthesis|DNA formation|DNA anabolism|DNA biosynthesis mah 2010-09-15T02:14:33Z biological_process owl:Class UBERON:0003328 biolink:NamedThing mesenchyme of footplate Mesenchyme that is part of a footplate. tmpxe7fu0cj_hp_relaxed.owl foot plate mesenchyme EHDAA:5149|VHOG_RETIRED:0001055|EMAPA:17488|EHDAA:6172|EHDAA2:0000549|EMAPA:17252 UBERON:0005260 uberon owl:Class We group two EMAPA classes here but these may need to be separated HP:0031485 biolink:NamedThing Subperiosteal bone formation The formation of new bone along the cortex and underneath the periosteum of a bone. tmpxe7fu0cj_hp_relaxed.owl Periosteal reaction 2017-09-17 23:02:59+00:00 peter owl:Class HP:0030313 biolink:NamedThing Abnormal periosteum morphology An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022515 owl:Class HP:0031019 biolink:NamedThing Pyknotic bone marrow neutrophils Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments. tmpxe7fu0cj_hp_relaxed.owl 2017-06-14 16:30:54+00:00 robinp owl:Class HP:0011992 biolink:NamedThing Abnormality of neutrophil morphology An abnormal form or size of neutrophils. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023091 peter 2012-07-19T11:00:27Z human_phenotype owl:Class GO:0007005 biolink:NamedThing mitochondrion organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. tmpxe7fu0cj_hp_relaxed.owl mitochondrion organisation|mitochondrion organization and biogenesis|mitochondria organization biological_process owl:Class UBERON:0001141 biolink:NamedThing right renal vein A renal vein that drains the right kidney. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37381|NCIT:C52695|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rvdUXKJwpEbGdrcN5Y29ycA|UMLS:C0508000|FMA:14335|MA:0002212 uberon owl:Class A vein that drains blood from the right kidney into the inferior vena cava[ncithesaurus]. HP:0010023 biolink:NamedThing Small epiphysis of the 1st metacarpal Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of the 1st long bone of hand UMLS:C4024100 doelkens 2009-05-27T04:02:50Z human_phenotype owl:Class UBERON:0035096 biolink:NamedThing fascia of tail tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0010629 biolink:NamedThing negative regulation of gene expression Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). tmpxe7fu0cj_hp_relaxed.owl gene silencing https://github.com/geneontology/go-ontology/issues/22557 This term covers any process that negatively regulates the rate of production of a mature gene product, and so includes processes that negatively regulate that rate by reducing the level, stability or availability of intermediates in the process of gene expression. For example, it covers any process that reduces the level, stability or availability of mRNA or circRNA for translation and thereby reduces the rate of production of the encoded protein via translation. biological_process owl:Class HP:0005325 biolink:NamedThing Extension of hair growth on temples to lateral eyebrow A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows. tmpxe7fu0cj_hp_relaxed.owl Unusual hairline with hair growth on temples extending to lateral eyebrow UMLS:C1857455 owl:Class HP:0009259 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the outermost bone of the ring finger UMLS:C4024488 doelkens 2009-01-07T12:07:34Z human_phenotype owl:Class GO:0006568 biolink:NamedThing tryptophan metabolic process The chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. tmpxe7fu0cj_hp_relaxed.owl tryptophan metabolism Wikipedia:Tryptophan biological_process owl:Class GO:0006586 biolink:NamedThing indolalkylamine metabolic process The chemical reactions and pathways involving indolalkylamines, indole or indole derivatives containing a primary, secondary, or tertiary amine group. tmpxe7fu0cj_hp_relaxed.owl indolamine metabolism|indolalkylamine metabolism|indolamine metabolic process biological_process owl:Class HP:0010349 biolink:NamedThing Bullet-shaped 2nd toe phalanx An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped phalanges of the 2nd toe|Bullet-shaped bones of the 2nd toe UMLS:C4021289 doelkens 2009-07-16T11:45:34Z human_phenotype owl:Class HP:0010142 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the outermost bone of the big toe UMLS:C4024017 doelkens 2009-05-29T01:22:47Z human_phenotype owl:Class PATO:0002124 biolink:NamedThing laminar A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer. tmpxe7fu0cj_hp_relaxed.owl 2009-10-06T04:37:14Z quality owl:Class HP:0006600 biolink:NamedThing Progressive calcification of costochondral cartilage tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968577 human_phenotype owl:Class HP:0100593 biolink:NamedThing Calcification of cartilage tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022015 doelkens 2010-12-27T04:35:28Z human_phenotype owl:Class HP:0010155 biolink:NamedThing Ivory epiphysis of the 1st metatarsal The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the 1st long bone of foot UMLS:C4024004 doelkens 2009-05-29T01:24:17Z owl:Class HP:0010119 biolink:NamedThing Ivory epiphyses of the hallux tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the big toe bone UMLS:C4024040 doelkens 2009-05-29T01:16:38Z owl:Class HP:0003710 biolink:NamedThing Exercise-induced muscle cramps Sudden and involuntary contractions of one or more muscles brought on by physical exertion. tmpxe7fu0cj_hp_relaxed.owl Exercise-induced muscle cramping|Muscle cramps with exertion|Exercise-induced muscle cramps|Muscle cramps following exercise|Muscle cramps on exercise|Muscle cramps on exertion UMLS:C1855578 HP:0009000|HP:0008983 human_phenotype owl:Class HP:0040166 biolink:NamedThing Abnormality of the periosteum tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073134 owl:Class PR:P55284 biolink:NamedThing cadherin-5 (mouse) A cadherin-5 that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl Cdh5|VE-cadherin (mouse)|CD144 (mouse)|mCDH5|vascular endothelial cadherin (mouse) UniProtKB:P55284 Category=organism-gene. protein owl:Class PR:000001444 biolink:NamedThing cadherin-5 A cadherin that is a translation product of the human CDH5 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl vascular endothelial cadherin|CD144|CDH5|VE-cadherin|7B4 antigen Category=gene. Requested by=CL. protein owl:Class PATO:0001469 biolink:NamedThing curved ventral A curvature quality inhering in a bearer by virtue of the bearer's being curved towards the abdomen of an organism. tmpxe7fu0cj_hp_relaxed.owl curved inferior (human head)|curved anterior (human torso) quality owl:Class PATO:0000406 biolink:NamedThing curved A curvature quality inhering in a bearer by virtue of the bearer's having or being marked by a curve or smoothly rounded bend. tmpxe7fu0cj_hp_relaxed.owl bowing|curled quality owl:Class HP:0011413 biolink:NamedThing Shoulder dystocia Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0269825|SNOMEDCT_US:89700002 Adelivery in which additional maneuvers are required to deliver the fetus after normal gentle downward traction has failed. peter 2012-03-15T10:01:02Z human_phenotype owl:Class GO:1900017 biolink:NamedThing positive regulation of cytokine production involved in inflammatory response Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response. tmpxe7fu0cj_hp_relaxed.owl up regulation of cytokine production involved in acute inflammatory response|positive regulation of cytokine production involved in acute inflammatory response|up regulation of cytokine production involved in inflammatory response rph 2012-01-11T09:34:35Z biological_process owl:Class UBERON:0005707 biolink:NamedThing upper jaw incisor odontogenic papilla An odontogenic papilla that is part of a upper jaw incisor. tmpxe7fu0cj_hp_relaxed.owl upper jaw incisor dental papilla|upper incisor mesenchyme EMAPA:17941|EHDAA2:0002123 uberon owl:Class UBERON:0003323 biolink:NamedThing mesenchyme of upper jaw Mesenchyme that is part of a developing upper jaw [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl palatoquadrate arch mesenchyme|upper jaw mesenchyme|mesenchyme of palatoquadrate arch EHDAA2:0002124|VHOG:0001099|EHDAA:8031|EMAPA:17929 uberon owl:Class HP:0001730 biolink:NamedThing Progressive hearing impairment A progressive form of hearing impairment. tmpxe7fu0cj_hp_relaxed.owl Progressive hearing loss UMLS:C1842138 HP:0008590 human_phenotype owl:Class GO:0008643 biolink:NamedThing carbohydrate transport The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are a group of organic compounds based of the general formula Cx(H2O)y. tmpxe7fu0cj_hp_relaxed.owl sugar transport GO:0006861|GO:0008644 biological_process owl:Class NBO:0000751 biolink:NamedThing perception behavior by means tmpxe7fu0cj_hp_relaxed.owl 2012-03-16T05:23:06Z gkoutos behavior_ontology owl:Class GO:0002319 biolink:NamedThing memory B cell differentiation tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0043254 biolink:NamedThing regulation of protein-containing complex assembly Any process that modulates the frequency, rate or extent of protein complex assembly. tmpxe7fu0cj_hp_relaxed.owl regulation of protein complex assembly biological_process owl:Class HP:0009564 biolink:NamedThing Triangular shaped distal phalanx of the 2nd finger Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped outermost bone of the 2nd finger UMLS:C4024289 doelkens 2009-01-28T04:16:02Z human_phenotype owl:Class HP:0100255 biolink:NamedThing Metaphyseal dysplasia The presence of dysplastic regions in metaphyseal regions. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:27837003|MSH:C536252|UMLS:C0265294 doelkens 2010-07-14T05:15:56Z HP:0005636|HP:0006427|HP:0000948|HP:0005704|HP:0005002 human_phenotype owl:Class HP:0003013 biolink:NamedThing Bulging epiphyses A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). tmpxe7fu0cj_hp_relaxed.owl Bulging end part of bone UMLS:C1833329 human_phenotype owl:Class HGNC:2295 biolink:NamedThing CP (human) A protein coding gene CP in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class UBERON:0002423 biolink:NamedThing hepatobiliary system The part of the digestive system that contains the liver and the biliary system. tmpxe7fu0cj_hp_relaxed.owl liver/biliary system|liver and biliary system|hepaticobiliary system AAO:0011056|TAO:0000036|EFO:0000800|EMAPA:16840|NCIT:C43612|EHDAA:2189|ZFA:0000036|MA:0000324|VHOG:0000294|UMLS:C1711359|XAO:0000132|MIAA:0000024|EHDAA2:0000998|MAT:0000024|CALOHA:TS-1308|EV:0100088 uberon owl:Class System responsible for the production and movement of bile[ZFIN:curator]. The hepaticobiliary system is responsible for metabolic and catabolic processing of small molecules absorbed from the blood or gut, hormones and serum proteins, detoxification, storage of glycogen, triglycerides, metals and lipid soluble vitamins and excretion of bile. Included are the synthesis of albumin, blood coagulation factors, complement, and specific binding proteins. The parts are: liver, bile duct, gall bladder and hepatic duct [GO:0061008] HP:0003042 biolink:NamedThing Elbow dislocation Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. tmpxe7fu0cj_hp_relaxed.owl Radiocapitellar dislocation|Elbow dislocations|Radiohumeral dislocation|Elbow dislocation|Dislocations of the elbows|Ulnohumeral dislocation UMLS:C2720437|SNOMEDCT_US:417558002|UMLS:C1403299|UMLS:C1403321|SNOMEDCT_US:125617002 HP:0006411 human_phenotype owl:Class HP:0030310 biolink:NamedThing Upper extremity joint dislocation Displacement or malalignment of one or more joints in the upper extremity (arm). tmpxe7fu0cj_hp_relaxed.owl Dislocated arm joints UMLS:C4022517 owl:Class HP:0011876 biolink:NamedThing Abnormal platelet volume Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023152 peter 2012-05-31T03:46:13Z human_phenotype owl:Class HP:0011875 biolink:NamedThing Abnormal platelet morphology An anomaly in platelet form, ultrastructure, or intracellular organelles. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of platelets UMLS:C0855742 peter 2012-05-31T03:43:59Z human_phenotype owl:Class UBERON:0003406 biolink:NamedThing cartilage of respiratory system A cartilage element that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl apparatus respiratorius cartilage|respiratory system cartilage|cartilage of apparatus respiratorius EMAPA:18694|MA:0001818 uberon owl:Class UBERON:0002113 biolink:NamedThing kidney A paired organ of the urinary tract which has the production of urine as its primary function. tmpxe7fu0cj_hp_relaxed.owl reniculate kidney MAT:0000119|FMA:7203|OpenCyc:Mx4rvVjlYpwpEbGdrcN5Y29ycA|AAO:0000250|CALOHA:TS-0510|EV:0100096|BTO:0000671|EFO:0000929|GAID:423|galen:Kidney|NCIT:C12415|UMLS:C0022646|EMAPA:17373|MA:0000368|MIAA:0000119|XAO:0003267|MESH:D007668 uberon owl:Class One of either of a pair of structures lying on either side of the dorsal aorta in which fluid balance is regulated and waste is excreted out in the form of urine.[AAO] renal HP:0007301 biolink:NamedThing Oromotor apraxia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021845 human_phenotype owl:Class HP:0008661 biolink:NamedThing Urethral stenosis Abnormal narrowing of the urethra. tmpxe7fu0cj_hp_relaxed.owl Narrowing of the urethra UMLS:C0041974|MSH:D014525|SNOMEDCT_US:236647003|SNOMEDCT_US:76618002 human_phenotype owl:Class CHEBI:33261 biolink:NamedThing organosulfur compound An organosulfur compound is a compound containing at least one carbon-sulfur bond. tmpxe7fu0cj_hp_relaxed.owl organosulfur compounds|organosulfur compound Wikipedia:Organosulfur_compounds CHEBI:25714|CHEBI:23010 chebi_ontology owl:Class UBERON:0001194 biolink:NamedThing splenic artery An artery that supplies the spleen. tmpxe7fu0cj_hp_relaxed.owl arteria splenica|arteria lienalis|lienal artery MA:0003177|EMAPA:19216|MESH:D013157|MA:0001991|NCIT:C33597|UMLS:C0037996|FMA:14773|GAID:510|OpenCyc:Mx4rv0cb2ZwpEbGdrcN5Y29ycA|galen:SplenicArtery http://upload.wikimedia.org/wikipedia/commons/a/a2/Gray1188.png uberon https://github.com/obophenotype/uberon/issues/268 owl:Class HP:0012763 biolink:NamedThing Paroxysmal dyspnea A sudden attack of dyspnea that occurs while the affected person is at rest. tmpxe7fu0cj_hp_relaxed.owl Paroxysmal dyspnoea UMLS:C0013405|MSH:D004418|SNOMEDCT_US:59265000 Paroxysmal nocturnal dyspnea (PND) is a sensation of shortness of breath that awakens the patient, often after 1 or 2 hours of sleep, and is usually relieved in the upright position. hecht 2014-04-06T10:58:39Z human_phenotype owl:Class HP:0012691 biolink:NamedThing Focal T2 hypointense thalamic lesion A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022775 peter 2014-03-22T04:52:32Z human_phenotype owl:Class HP:0008095 biolink:NamedThing Osteolysis of talus Osteolysis affecting the talus. tmpxe7fu0cj_hp_relaxed.owl Osteolysis of tali UMLS:C4021556 human_phenotype owl:Class HP:0009134 biolink:NamedThing Osteolysis involving bones of the feet tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024579 peter 2008-04-17T02:43:00Z human_phenotype owl:Class HP:0004354 biolink:NamedThing Abnormal circulating carboxylic acid concentration Any deviation from the normal concentration of a carboxylic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025344 Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH). peter 2008-03-17T01:11:00Z human_phenotype owl:Class HP:0000119 biolink:NamedThing Abnormality of the genitourinary system The presence of any abnormality of the genitourinary system. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the GU system|Genitourinary dysplasia|Urogenital abnormalities|Genitourinary disease|Genitourinary abnormality|Urogenital anomalies|Genitourinary tract malformation|Genitourinary tract anomalies SNOMEDCT_US:42030000|MSH:D014564|UMLS:C0042063|UMLS:C0080276|UMLS:C4020895|SNOMEDCT_US:287085006 HP:0008688|HP:0008658|HP:0008704|HP:0008713 human_phenotype owl:Class HP:0041224 biolink:NamedThing Fractured manual digit bone A partial or complete breakage of the manual digit bone. tmpxe7fu0cj_hp_relaxed.owl bone manual digit bone owl:Class UBERON:0009483 biolink:NamedThing mesentery of foregut-midgut junction A mesentery that is part of a foregut-midgut junction. tmpxe7fu0cj_hp_relaxed.owl foregut-midgut junction mesentery EHDAA2:0000575|VHOG:0000430|EMAPA:16365 uberon owl:Class Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] UBERON:0014378 biolink:NamedThing intrinsic muscle of pes Any of the intrinsic muscles of the pes (foot). tmpxe7fu0cj_hp_relaxed.owl intrinsic muscle of foot FMA:65020 uberon owl:Class UBERON:0001498 biolink:NamedThing muscle of pes Any muscle organ that is part of a pes [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl foot muscle|foot muscle organ|muscle of foot|muscle organ of foot EMAPA:36160|BTO:0000477|MA:0000652|FMA:37369 uberon owl:Class CHEBI:24863 biolink:NamedThing iodophenol tmpxe7fu0cj_hp_relaxed.owl iodophenol 0 C6H5IO 220.008 219.93851 chebi_ontology owl:Class HP:0009974 biolink:NamedThing Partial duplication of the phalanges of the 4th finger A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the bones of the ring finger UMLS:C4024134 doelkens 2009-05-26T02:20:08Z human_phenotype owl:Class HP:0002085 biolink:NamedThing Occipital encephalocele A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. tmpxe7fu0cj_hp_relaxed.owl Brain tissue sticks out through back of skull|Posterior encephalocele|Occipital meningoencephalocele MSH:D004677|UMLS:C0014067|SNOMEDCT_US:42376006 HP:0007051|HP:0007357 human_phenotype owl:Class HP:0100026 biolink:NamedThing Arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:24551003|MSH:D001165|SNOMEDCT_US:234141001|UMLS:C0003857 doelkens 2010-05-31T05:32:31Z human_phenotype owl:Class HP:0007359 biolink:NamedThing Focal-onset seizure A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. tmpxe7fu0cj_hp_relaxed.owl Partial seizures|Focal-onset seizures|Partial seizure|Seizure affecting one half of brain|Focal seizures|Focal seizure|Focal onset seizure SNOMEDCT_US:29753000|MSH:D012640|UMLS:C0751495 In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. peter 2008-03-31T05:27:00Z HP:0002358|HP:0040168 owl:Class HP:0030163 biolink:NamedThing Abnormal vascular physiology Abnormality of vascular function. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022603 owl:Class HP:0009266 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 4th finger Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the innermost bone of the ring finger UMLS:C4024483 doelkens 2009-01-07T12:12:59Z human_phenotype owl:Class GO:0046533 biolink:NamedThing negative regulation of photoreceptor cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of photoreceptor cell differentiation. An example of this process is found in Drosophila melanogaster. tmpxe7fu0cj_hp_relaxed.owl inhibition of photoreceptor cell differentiation|down regulation of photoreceptor differentiation|downregulation of photoreceptor differentiation|down regulation of photoreceptor cell differentiation|negative regulation of photoreceptor differentiation|downregulation of photoreceptor cell differentiation|inhibition of photoreceptor differentiation|down-regulation of photoreceptor cell differentiation|down-regulation of photoreceptor differentiation GO:0045674 biological_process owl:Class HP:0004790 biolink:NamedThing Hypoplasia of the small intestine Underdevelopment of the small intestine. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped small intestine UMLS:C4025291 human_phenotype owl:Class HP:0025098 biolink:NamedThing Dysgenesis of the hypothalamus Structural abnormality of the hypothalamus related to defective development. tmpxe7fu0cj_hp_relaxed.owl Hypothalamic dysgenesis 2016-10-28 06:41:35+00:00 Note that the term hypothalamic dysgenesis is generally used to refer to a morphological abnormality of the hypothalamus that is of presumed developmental (rather than acquired) origin. HPO:probinson owl:Class HP:0011116 biolink:NamedThing Abnormality of interferon secretion An abnormality in the production or cellular release of interferons (a class of cytokines). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023531 peter 2011-06-12T09:14:43Z human_phenotype owl:Class HP:0011113 biolink:NamedThing Abnormality of cytokine secretion An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells). tmpxe7fu0cj_hp_relaxed.owl MP:0003009|UMLS:C4023534 peter 2011-06-12T09:07:24Z owl:Class HP:0040207 biolink:NamedThing Abnormal CSF biopterin level Abnormal concentration of biopterin in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl Abnormal cerebrospinal fluid biopterin level UMLS:C4073155 PhenoTips:CHum owl:Class CHEBI:36338 biolink:NamedThing lepton Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek lambdaepsilonpitauomicronsigma (small, thin). tmpxe7fu0cj_hp_relaxed.owl leptons chebi_ontology owl:Class CHEBI:36340 biolink:NamedThing fermion Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi. tmpxe7fu0cj_hp_relaxed.owl fermions|fermion chebi_ontology owl:Class NBO:0000591 biolink:NamedThing motor coordination phenotype "Observable characteristic of behavior related to the coordination of combinations of body movements created with the kinematic (such as spatial direction) and kinetic (force) parameters that result in intended actions." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T11:32:30Z George Gkoutos behavior_ontology owl:Class NBO:0000229 biolink:NamedThing vestibular behavior phenotype "Observable characteristic of behavior related to the awareness of body balance and movement." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl pathological vestibular behaviour 2011-04-04T06:34:21Z George Gkoutos behavior_ontology owl:Class UBERON:0008001 biolink:NamedThing irregular bone The irregular bones are bones which, from their peculiar form, cannot be grouped as long bone, short bone, flat bone or sesamoid bone. Irregular bones serve various purposes in the body, such as protection of nervous tissue, affording multiple anchor points for skeletal muscle attachment (as with the sacrum), and maintaining pharynx and trachea support, and tongue attachment (such as the hyoid bone). They consist of cancellous tissue enclosed within a thin layer of compact bone. The irregular bones are: the vertebrC&, sacrum, coccyx, temporal, sphenoid, ethmoid, zygomatic, maxilla, mandible, palatine, inferior nasal concha, and hyoid. tmpxe7fu0cj_hp_relaxed.owl os irregulare SCTID:421560006|FMA:7477|UMLS:C0502414|Wikipedia:Irregular_bone|NCIT:C32881 uberon owl:Class HP:0033812 biolink:NamedThing Decreased circulating androstenedione concentration Reduced concentration of androstenedione in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 11:56:14+00:00 peter owl:Class HP:0007588 biolink:NamedThing Reticular hyperpigmentation Increased pigmentation of the skin with a netlike (reticular) pattern. tmpxe7fu0cj_hp_relaxed.owl Reticulate hyperpigmentation UMLS:C1851972 HP:0007579 human_phenotype owl:Class CHEBI:157750 biolink:NamedThing heparan sulfate polyanion A carbohydrate acid derivative anion that is a polyanionic form of heparan sulfate arising from global deprotonation of the carboxy and N-sulfo groups; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl heparan sulfate group -4 (C12H15NO20S3)n 0.0 0.0 chebi_ontology owl:Class CHEBI:61660 biolink:NamedThing organic sulfamate oxoanion An anion resulting from the removal of a proton from an organic sulfamic acid group. tmpxe7fu0cj_hp_relaxed.owl organic sulfamic acid anions|an organic sulfamic acid anion -1 NO3SR2 94.07000 93.95989 [O-]S(=O)(=O)N([*])[*] chebi_ontology owl:Class GO:0002625 biolink:NamedThing regulation of T cell antigen processing and presentation Any process that modulates the frequency, rate, or extent of T cell antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl regulation of T lymphocyte antigen processing and presentation|regulation of T-lymphocyte antigen processing and presentation|regulation of T-cell antigen processing and presentation biological_process owl:Class UBERON:0036925 biolink:NamedThing wall of eyeball tmpxe7fu0cj_hp_relaxed.owl eyeball wall FMA:58098 uberon owl:Class HP:0001973 biolink:NamedThing Autoimmune thrombocytopenia The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. tmpxe7fu0cj_hp_relaxed.owl Idiopathic thrombocytopenic purpura|Idiopathic thrombocytopenia|Immune thrombocytopenia SNOMEDCT_US:13172003|SNOMEDCT_US:128091003|UMLS:C0920163|SNOMEDCT_US:234490009|SNOMEDCT_US:32273002|UMLS:C0242584|UMLS:C0398650|MSH:D016553 Autoimmune thrombocytopenia is causes by accelerated destruction of auto-antibody sensitized platelets in the reticular-endothelial system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Drug-induced autoimmune thrombocytopenia, and autoimmune thrombocytopenia following viral infection. HP:0004829|HP:0004806|HP:0001936 owl:Class HP:0410198 biolink:NamedThing Decreased uridine diphosphate glucose-4-epimerase level in red blood cells A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. tmpxe7fu0cj_hp_relaxed.owl Decreased UDP-glucose 4-epimerase level in RBCs|Decreased UDP-glucose 4-epimerase level in red blood cells 2018-05-21 18:24:19+00:00 owl:Class HP:0410196 biolink:NamedThing Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. tmpxe7fu0cj_hp_relaxed.owl Abnormal UDP-glucose 4-epimerase level in red blood cells|Abnormal UDP-glucose 4-epimerase level in RBCs 2018-05-21 18:24:02+00:00 owl:Class PATO:0002043 biolink:NamedThing increased anterior-posterior diameter An anterior-posterior diameter quality which is relatively large. tmpxe7fu0cj_hp_relaxed.owl high anterior-posterior diameter quality owl:Class HP:0005587 biolink:NamedThing Profuse pigmented skin lesions tmpxe7fu0cj_hp_relaxed.owl UMLS:C1834424 human_phenotype owl:Class UBERON:0004756 biolink:NamedThing dermal skeletal element Dermis-derived entity that is made of skeletal tissue. tmpxe7fu0cj_hp_relaxed.owl dermal element uberon owl:Class GO:0060907 biolink:NamedThing positive regulation of macrophage cytokine production Any process that increases the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. tmpxe7fu0cj_hp_relaxed.owl dph 2009-09-04T02:32:18Z biological_process owl:Class GO:0061081 biolink:NamedThing positive regulation of myeloid leukocyte cytokine production involved in immune response Any process that modulates the rate, frequency, or extent of the production of a cytokine that contributes to the immune response. tmpxe7fu0cj_hp_relaxed.owl positive regulation of myeloid cell cytokine production involved in immune response dph 2010-04-13T11:26:41Z biological_process owl:Class GO:0002775 biolink:NamedThing antimicrobial peptide production The synthesis or release of an antimicrobial peptide during an immune response, resulting in an increase in intracellular or extracellular levels. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa. tmpxe7fu0cj_hp_relaxed.owl Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select one of the 'regulation' children terms. biological_process owl:Class CL:0002657 biolink:NamedThing glandular cell of esophagus A glandular epithelial cell of the esophagus. tmpxe7fu0cj_hp_relaxed.owl FMA:86548 tmeehan 2011-07-08T03:55:57Z cell owl:Class CL:0002252 biolink:NamedThing epithelial cell of esophagus An epithelial cell of the esophagus. tmpxe7fu0cj_hp_relaxed.owl FMA:63071 tmeehan 2010-09-08T09:28:20Z CL:1000402 cell owl:Class GO:0042480 biolink:NamedThing negative regulation of eye photoreceptor cell development Any process that stops, prevents, or reduces the frequency, rate or extent of eye photoreceptor development. tmpxe7fu0cj_hp_relaxed.owl down regulation of eye photoreceptor cell development|inhibition of eye photoreceptor cell development|down-regulation of eye photoreceptor cell development|downregulation of eye photoreceptor cell development|negative regulation of eye photoreceptor development biological_process owl:Class GO:0042478 biolink:NamedThing regulation of eye photoreceptor cell development Any process that modulates the frequency, rate or extent of eye photoreceptor development. tmpxe7fu0cj_hp_relaxed.owl regulation of eye photoreceptor development biological_process owl:Class HP:0033798 biolink:NamedThing Impaired leukocyte adhesion During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation. tmpxe7fu0cj_hp_relaxed.owl 2021-05-08 13:55:54+00:00 peter owl:Class HP:0033797 biolink:NamedThing Leukocyte migration defect Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization. tmpxe7fu0cj_hp_relaxed.owl Abnormal leukocyte migration|Defects of leukocyte migration 2021-05-08 13:51:57+00:00 peter owl:Class GO:0003158 biolink:NamedThing endothelium development The process whose specific outcome is the progression of an endothelium over time, from its formation to the mature structure. Endothelium refers to the layer of cells lining blood vessels, lymphatics, the heart, and serous cavities, and is derived from bone marrow or mesoderm. Corneal endothelium is a special case, derived from neural crest cells. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-01T12:50:57Z biological_process owl:Class UBERON:0003599 biolink:NamedThing tail connective tissue A portion of connective tissue that is part of a tail [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl textus connectivus of tail|tail textus connectivus|textus connectivus of post-vent region|connective tissue of tail|post-vent region connective tissue|post-vent region textus connectivus|portion of connective tissue of tail|post-vent region portion of connective tissue|portion of connective tissue of post-vent region|tail portion of connective tissue|connective tissue of post-vent region MA:0000697|EMAPA:16749 uberon owl:Class UBERON:0003841 biolink:NamedThing autopod joint A limb joint that is part of an autopod [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl autopod limb joint|limb joint of distal free limb segment|autopod joint of limb|joint of limb of autopod|paw joint|limb joint of autopod|distal free limb segment joint of limb|joint of limb of distal free limb segment|distal free limb segment limb joint EMAPA:35160|MA:0002715 uberon owl:Class HP:0033567 biolink:NamedThing Right axis deviation A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used. tmpxe7fu0cj_hp_relaxed.owl Electrical right axis deviation|RAD 2021-01-24 13:39:18+00:00 peter owl:Class GO:0035272 biolink:NamedThing exocrine system development Progression of the exocrine system over time, from its formation to a mature structure. The exocrine system is a system of hormones and glands, where the glands secrete straight to a target site via ducts or tubes. The human exocrine system includes the salivary glands, sweat glands and many glands of the digestive system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0007727 biolink:NamedThing Opacification of the corneal epithelium Lack of transparency of the corneal epithelium. tmpxe7fu0cj_hp_relaxed.owl Superficial corneal opacities UMLS:C1849198 human_phenotype owl:Class GO:1901706 biolink:NamedThing mesenchymal cell differentiation involved in bone development The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mesenchymal cells of bone as it progresses from its formation to the mature state. tmpxe7fu0cj_hp_relaxed.owl hjd 2012-12-14T16:04:16Z biological_process owl:Class GO:0048762 biolink:NamedThing mesenchymal cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:26463 biolink:NamedThing pyruvate family amino acid An L-alpha-amino acid which is biosynthesised from pyruvate (i.e. alanine, valine, and leucine). A closed class. tmpxe7fu0cj_hp_relaxed.owl pyruvate family amino acids chebi_ontology owl:Class HP:0041225 biolink:NamedThing Fractured metacarpal bone of digit 1 A partial or complete breakage of the metacarpal bone of digit 1. tmpxe7fu0cj_hp_relaxed.owl bone metacarpal bone of digit 1 owl:Class HP:0100265 biolink:NamedThing Synostosis of metacarpals/metatarsals tmpxe7fu0cj_hp_relaxed.owl Fusion of long bones of hand/long bones of foot UMLS:C4022177 doelkens 2010-07-20T03:02:10Z human_phenotype owl:Class HP:0100240 biolink:NamedThing Synostosis of joints The abnormal fusion of neighboring bones across a joint. tmpxe7fu0cj_hp_relaxed.owl Bony ankylosis|Fusion of joints UMLS:C4022183 Note that contracture refers to a reduction of joint mobility due to permanent shortening of the soft parts around a joint, muscles, tendons, ligaments, fasciae, or skin. Ankylosis and contracture can occur together or alone. Fibrous ankylosis refers to adhesions between the opposing surface of a joint. Cartilaginous ankylosis implies the fusion of two apposed cartilaginous surfaces. Bony ankylosis or synostosis refers to an osseous union between articulating surfaces. doelkens 2010-06-24T06:04:02Z human_phenotype owl:Class GO:0031274 biolink:NamedThing positive regulation of pseudopodium assembly Any process that activates or increases the frequency, rate or extent of the assembly of pseudopodia. tmpxe7fu0cj_hp_relaxed.owl upregulation of pseudopodium formation|positive regulation of pseudopodium formation|stimulation of pseudopodium formation|up-regulation of pseudopodium formation|up regulation of pseudopodium formation|activation of pseudopodium formation biological_process owl:Class UBERON:0005216 biolink:NamedThing optic eminence surface ectoderm An external ectoderm that is part of a optic eminence [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl VHOG:0000520|RETIRED_EHDAA2:0001311|EMAPA:16539 uberon owl:Class HP:0007872 biolink:NamedThing Choroidal hemangioma The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:255022003|NCIT:C3086|UMLS:C0346390 Choroidal hemangiomas can cause hyperopia or other visual symptoms such as blurred or distorted vision. Some choroidal hemangiomas are asymptomatic. human_phenotype owl:Class HP:0010482 biolink:NamedThing Acromelia of the upper limbs Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023810 peter 2009-09-16T08:56:43Z human_phenotype owl:Class HP:0010884 biolink:NamedThing Acromelia Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023675 peter 2010-09-20T11:17:40Z human_phenotype owl:Class UBERON:0001844 biolink:NamedThing cochlea The spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. [WP,modified]. tmpxe7fu0cj_hp_relaxed.owl lagena|cochleae|lagenas|cochlear part of bony labyrinth|cochlear duct|cochlear organ MIAA:0000144|NCIT:C12395|EV:0100363|MESH:D003051|ZFA:0000374|CALOHA:TS-0151|UMLS:C0009195|EMAPA:17597|BIRNLEX:1190|BTO:0000267|TAO:0000374|GAID:724|UMLS:C1278895|EFO:0000357|NIFSTD_RETIRED:birnlex_883|MA:0000240|OpenCyc:Mx4rvqfJmJwpEbGdrcN5Y29ycA|XAO:0000197|MAT:0000144|VHOG:0000691|AAO:0000253|FMA:60201 http://upload.wikimedia.org/wikipedia/commons/c/c7/Cochlea-crosssection.png|http://upload.wikimedia.org/wikipedia/commons/c/cb/Cochlea-crosssection.svg uberon owl:Class A spiral-shaped cavity in the petrous portion of the temporal bone of the inner ear, containing the nerve endings essential for hearing and forming one of the divisions of the labyrinth. [TFD][VHOG] Because achieving high sensitivity is generally advantageous for auditory organs, it is not surprising that evidence for cochlear amplification is also seen in nonmammals. Spontaneous otoacoustic emissions (SOAEs) are narrow-band sound signals emitted from the inner ear, and it is generally assumed that their energy derives from the hair-cell molecular motors underlying cochlear amplification. However, all terrestrial vertebrates studied so far (including amphibians) show very similar SOAEs. The most parsimonious explanation for the universality of this phenomena is that some kind of amplifying mechanism is at least as old as land vertebrates themselves.[well established][VHOG] cochlear The association with 'lagena' in frog and fish comes from HOG, although HOG is inconsistent here, associating lagena with XAO cochlea and ZFA cochlear duct. NBK53175 says: 'In contrast, the ventrally located auditory chambers have undergone more extensive evolutionary modifications. The saccule and lagena are prominent auditory organs in fish but the saccule has a vestibular role in mammals and birds, and the lagena is absent in mammals. The primary au- ditory organ in mammals and birds is the cochlea, which has no known counterpart in amphibians and fish (Riley and Phillips, 2003)'|the cochlea is coiled in most mammals, monotremes being the exceptions. sources vary in connection to bony labyrinth UBERON:0006694 biolink:NamedThing cerebellum vasculature A vasculature that is part of a cerebellum. tmpxe7fu0cj_hp_relaxed.owl FMA:268519 uberon owl:Class HP:0000746 biolink:NamedThing Delusions A false belief that is held despite evidence to the contrary. tmpxe7fu0cj_hp_relaxed.owl Delusions UMLS:C0011253|MSH:D003702|SNOMEDCT_US:2073000 owl:Class GO:0060255 biolink:NamedThing regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0090205 biolink:NamedThing positive regulation of cholesterol metabolic process Any process that increases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpxe7fu0cj_hp_relaxed.owl tb 2009-12-23T10:27:37Z biological_process owl:Class GO:1902093 biolink:NamedThing positive regulation of flagellated sperm motility tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0000737 biolink:NamedThing Irritability A proneness to anger, i.e., a condition of being easily bothered or annoyed. tmpxe7fu0cj_hp_relaxed.owl Irritability|Irritable UMLS:C2700617 owl:Class UBERON:0035431 biolink:NamedThing mediastinal pleura The parietal pleura that lines the mediastinum. tmpxe7fu0cj_hp_relaxed.owl pars mediastinalis (pleurae)|mediastinal part of parietal pleura|pars mediastinalis pleurae parietalis NCIT:C94820|FMA:9736 uberon owl:Class HP:0009580 biolink:NamedThing Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Absent/small innermost index finger bone|Absent/underdeveloped innermost index finger bone UMLS:C4024281 doelkens 2009-01-28T05:26:39Z human_phenotype owl:Class HP:0033733 biolink:NamedThing Low-grade vesicoureteral reflux Vesicoureteral reflux without dilation of the renal calyces (Grade I-II). tmpxe7fu0cj_hp_relaxed.owl 2021-04-16 13:55:32+00:00 peter owl:Class HP:0000076 biolink:NamedThing Vesicoureteral reflux Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. tmpxe7fu0cj_hp_relaxed.owl Ureteral reflux|Vesicoureteric reflux|Vesico-ureteral reflux|Ureteric reflux UMLS:C0042580|MSH:D014718|SNOMEDCT_US:197811007|Fyler:4510 HP:0008667|HP:0006002|HP:0005998 owl:Class UBERON:0004064 biolink:NamedThing neural tube basal plate The region of the mantle layer of the neural tube that lies ventral to the sulcus limitans and contains primarily motor neurons and interneurons. tmpxe7fu0cj_hp_relaxed.owl basal plate of neural tube|basal plate|ventral part of neural tube|spinal cord basal plate|motor part of neural tube UMLS:C1511061|Wikipedia:Basal_plate_(neural_tube)|AAO:0010561|NCIT:C34111|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1372|EFO:0001904 uberon owl:Class GO:2001021 biolink:NamedThing negative regulation of response to DNA damage stimulus Any process that stops, prevents or reduces the frequency, rate or extent of response to DNA damage stimulus. tmpxe7fu0cj_hp_relaxed.owl negative regulation of response to genotoxic stress|negative regulation of cellular response to DNA damage stimulus|negative regulation of cellular DNA damage response|negative regulation of DNA damage response yaf 2011-08-19T10:20:29Z biological_process owl:Class HP:0009171 biolink:NamedThing Triangular epiphyses of the metacarpals A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals. tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the long bone of hand UMLS:C4024558 doelkens 2008-12-30T02:03:34Z human_phenotype owl:Class HP:0008083 biolink:NamedThing 2nd-5th toe middle phalangeal hypoplasia tmpxe7fu0cj_hp_relaxed.owl Underdeveloped 2nd-5th middle toe bones UMLS:C1861376 human_phenotype owl:Class HP:0004269 biolink:NamedThing Subluxation of the small joints of the hand A partial dislocation of some or all of the small joints of the hand. tmpxe7fu0cj_hp_relaxed.owl Partial dislocation of small joints of hand UMLS:C4025380 human_phenotype owl:Class HP:0032153 biolink:NamedThing Joint subluxation A partial dislocation of a joint. tmpxe7fu0cj_hp_relaxed.owl 2018-12-02 13:55:17+00:00 peter owl:Class HP:0010716 biolink:NamedThing 3-5 toe syndactyly Syndactyly with fusion of toes three to five. tmpxe7fu0cj_hp_relaxed.owl Webbed 3rd-5th toes UMLS:C4023723 sdoelken 2010-03-26T05:22:26Z owl:Class GO:1901052 biolink:NamedThing sarcosine metabolic process The chemical reactions and pathways involving sarcosine. tmpxe7fu0cj_hp_relaxed.owl sarcosine metabolism yaf 2012-06-28T04:52:04Z biological_process owl:Class GO:1901605 biolink:NamedThing alpha-amino acid metabolic process The chemical reactions and pathways involving an alpha-amino acid. tmpxe7fu0cj_hp_relaxed.owl alpha-amino acid metabolism tb 2012-11-08T17:39:50Z biological_process owl:Class CHEBI:59871 biolink:NamedThing D-alpha-amino acid zwitterion Zwitterionic form of a D-alpha-amino acid having an anionic carboxy group and a protonated amino group. tmpxe7fu0cj_hp_relaxed.owl a D-alpha-amino acid|D-alpha-amino acid zwitterions 0 C2H4NO2R 74.059 74.02420 [NH3+][C@H]([*])C([O-])=O chebi_ontology owl:Class HP:0001789 biolink:NamedThing Hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0020305|MSH:D015160|SNOMEDCT_US:276508000 The most common causes of hydrops fetalis are hematologic (inclusing isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms. HP:0005099 owl:Class GO:0045580 biolink:NamedThing regulation of T cell differentiation Any process that modulates the frequency, rate or extent of T cell differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of T lymphocyte differentiation|regulation of T-lymphocyte differentiation|regulation of T cell development|regulation of T-cell differentiation Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. biological_process owl:Class HP:0012732 biolink:NamedThing Anorectal anomaly An abnormality of the anus or rectum. tmpxe7fu0cj_hp_relaxed.owl MSH:D000071056|UMLS:C3495676|SNOMEDCT_US:33225004 peter 2014-03-23T02:48:00Z human_phenotype owl:Class HP:0000327 biolink:NamedThing Hypoplasia of the maxilla Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. tmpxe7fu0cj_hp_relaxed.owl Upper jaw retrusion|Hypotrophic maxilla|Decreased projection of upper jaw|Maxillary deficiency|Maxillary hypoplasia|Hypoplasia of upper jaw bones|Deficiency of upper jaw bones|Small maxilla|Decreased size of upper jaw|Retrusion of upper jaw bones|Small upper jaw bones|Decreased size of maxilla|Retrognathia of upper jaw|Maxillary retrusion|Hypotrophic upper jaw bones|Decreased projection of maxilla|Small upper jaw|Maxillary retrognathia|Maxillary micrognathia|Upper jaw deficiency|Micromaxilla|Hypoplastic maxillary bones UMLS:C4280643|UMLS:C4280641|UMLS:C4280640|UMLS:C4280642|UMLS:C4082243|UMLS:C0240310 HP:0004644 human_phenotype owl:Class UBERON:0006929 biolink:NamedThing glandular columnar epithelium Simple columnar epithelium that constitutes the secretory part of a gland. Examples: epithelium of stomach, luminal epithelium of lactiferous duct.[FMA]. tmpxe7fu0cj_hp_relaxed.owl FMA:64800|UMLS:C0225337|NCIT:C13182 uberon owl:Class HP:0010790 biolink:NamedThing Hyoplasia of the Leydig cells Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023702 sdoelken 2010-05-04T09:51:03Z human_phenotype owl:Class HP:0010789 biolink:NamedThing Abnormality of the Leydig cells tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023703 sdoelken 2010-05-04T09:50:45Z human_phenotype owl:Class GO:2000406 biolink:NamedThing positive regulation of T cell migration Any process that activates or increases the frequency, rate or extent of T cell migration. tmpxe7fu0cj_hp_relaxed.owl positive regulation of T-lymphocyte migration|positive regulation of T lymphocyte migration|positive regulation of T-cell migration mah 2011-02-23T10:49:12Z biological_process owl:Class HP:0032911 biolink:NamedThing Focal aware orofacial automatism seizure A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0004734 biolink:NamedThing Renal cortical microcysts Cysts of microscopic size confined to the cortex of the kidney. tmpxe7fu0cj_hp_relaxed.owl Multiple small renal cortical cysts|Cortical microcysts|Multiple renal cortical microcysts UMLS:C1865877 HP:0000814 human_phenotype owl:Class HP:0000803 biolink:NamedThing Renal cortical cysts Cysts of the cortex of the kidney. tmpxe7fu0cj_hp_relaxed.owl Cortical cysts UMLS:C1969144 human_phenotype owl:Class HP:0200097 biolink:NamedThing Oral mucosal blisters Blisters arising in the mouth. tmpxe7fu0cj_hp_relaxed.owl Oral blistering|Bullae of oral mucosa|Oral mucosal blisters|Oral mucosa blisters|Blisters of mouth|Blebs of oral mucosa UMLS:C0853945 sebastiankohler 2013-06-05T09:59:58Z owl:Class UBERON:0011968 biolink:NamedThing radio-carpal joint A skeletal joint that connects a radius bone and connects a carpal skeleton. tmpxe7fu0cj_hp_relaxed.owl wrist joint|radiocarpal articulation|articulatio radiocarpea|radiocarpal joint EMAPA:19205|FMA:35291|MA:0000461 uberon owl:Class UBERON:0001491 biolink:NamedThing wrist joint A joint connecting the forelimb zeugopod skeleton with the carpal skeleton. tmpxe7fu0cj_hp_relaxed.owl joint of wrist|joint of carpal region|radiocarpal joint|carpal region joint UMLS:C1322271|FMA:321842|MESH:A02.835.583.959|GAID:274|MA:0000460|galen:WristJoint|OpenCyc:Mx4rvZD2PJwpEbGdrcN5Y29ycA|NCIT:C33894|EMAPA:19205 Human:wrist.png uberon owl:Class in FMA this includes radio-carpal and radio-ulnar *ligaments* CHEBI:32613 biolink:NamedThing isoleucinium tmpxe7fu0cj_hp_relaxed.owl isoleucinium|H2ile(+)|isoleucine cation|rel-(1R,2R)-1-carboxy-2-methylbutan-1-aminium Gmelin:1651827 chebi_ontology owl:Class HP:0003311 biolink:NamedThing Hypoplasia of the odontoid process Developmental hypoplasia of the dens of the axis. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic odontoid process|Odontoid hypoplasia|Small odontoid process|Small odontoid peg UMLS:C1846439 HP:0003299|HP:0008481|HP:0004613 human_phenotype owl:Class HP:0008518 biolink:NamedThing Aplasia/Hypoplasia involving the vertebral column tmpxe7fu0cj_hp_relaxed.owl Absent/small backbone|Absent/underdeveloped backbone|Absent/small spine|Absent/small vertebral column|Absent/underdeveloped vertebral column|Absent/underdeveloped spine UMLS:C4024659 peter 2008-04-04T02:33:00Z human_phenotype owl:Class HP:0011644 biolink:NamedThing Coronary sinus diverticulum A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus. tmpxe7fu0cj_hp_relaxed.owl Diverticulum of the coronary sinus SNOMEDCT_US:447661004|UMLS:C3163894 peter 2012-04-09T09:12:28Z human_phenotype owl:Class UBERON:0003605 biolink:NamedThing eye skin gland A skin gland that is part of a camera-type eye [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl skin glands set of vertebrate eye|vertebrate eye skin glands|skin gland of vertebrate eye|camera-type eye skin glands set|skin glands of vertebrate eye|skin gland of camera-type eye|camera-type eye skin gland|camera-type eye skin glands|vertebrate eye skin gland|skin glands of camera-type eye|skin glands set of camera-type eye|vertebrate eye skin glands set EMAPA:37530|MA:0002451 uberon owl:Class UBERON:0015152 biolink:NamedThing gland of ocular region A gland that is typically found in or near the orbital region, in or around either the medial or lateral canthi, and is typically associated with secretions onto the eyeball or associated ducts. Includes the Harderian, nictitans and lacrimal glands. tmpxe7fu0cj_hp_relaxed.owl ocular gland|orbital gland uberon owl:Class the only orbital gland found in anuran amphibians is either the Harderian or the lacrimal; if it is a lacrimal, then a progressive lateral migration of the lacrimal glands must occur through the amniotes[PMID:7559104]|the only orbital gland found in anuran amphibians is the Harderian[PMID:8843648] GO:0042997 biolink:NamedThing negative regulation of Golgi to plasma membrane protein transport Any process that stops, prevents, or reduces the frequency, rate or extent of the transport of proteins from the Golgi to the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl down regulation of Golgi to plasma membrane protein transport|inhibition of Golgi to plasma membrane protein transport|downregulation of Golgi to plasma membrane protein transport|down-regulation of Golgi to plasma membrane protein transport biological_process owl:Class GO:1905629 biolink:NamedThing positive regulation of serotonin biosynthetic process Any process that activates or increases the frequency, rate or extent of serotonin biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl upregulation of serotonin formation|upregulation of serotonin biosynthesis|up-regulation of serotonin biosynthesis|positive regulation of serotonin synthesis|positive regulation of serotonin formation|up-regulation of serotonin anabolism|up regulation of serotonin synthesis|up-regulation of serotonin biosynthetic process|upregulation of serotonin anabolism|upregulation of serotonin biosynthetic process|activation of serotonin formation|activation of serotonin biosynthesis|positive regulation of serotonin anabolism|up regulation of serotonin formation|up-regulation of serotonin synthesis|activation of serotonin biosynthetic process|positive regulation of serotonin biosynthesis|up regulation of serotonin anabolism|up regulation of serotonin biosynthetic process|up-regulation of serotonin formation|upregulation of serotonin synthesis|up regulation of serotonin biosynthesis|activation of serotonin anabolism|activation of serotonin synthesis pad 2016-10-31T14:26:36Z biological_process owl:Class HP:0009643 biolink:NamedThing Bullet-shaped distal phalanx of the thumb Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped outermost bone of the thumb UMLS:C4024260 doelkens 2009-01-29T05:19:33Z human_phenotype owl:Class HP:0200049 biolink:NamedThing Upper limb hypertonia Increased muscle tone observed in the arms of the affected person. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021898 koehlers owl:Class GO:0010468 biolink:NamedThing regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). tmpxe7fu0cj_hp_relaxed.owl regulation of gene product expression|regulation of protein expression|gene regulation https://github.com/geneontology/go-ontology/issues/22557 Wikipedia:Regulation_of_gene_expression This class covers any process that regulates the rate of production of a mature gene product, and so includes processes that regulate that rate by regulating the level, stability or availability of intermediates in the process of gene expression. For example, it covers any process that regulates the level, stability or availability of mRNA or circRNA for translation and thereby regulates the rate of production of the encoded protein via translation. biological_process owl:Class UBERON:0012241 biolink:NamedThing male urethral meatus A urethral meatus that is part of a male urethra[Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl external urethral orifice (male)|urethral opening of penile urethra|distal urethral opening of male|ostium urethrae externum (urethra masculina)|external orifice of male urethra|urethral meatus of penile urethra|male urethra ostium EMAPA:36434|MA:0002642|FMA:85265 uberon owl:Class The external urethral orifice is the external opening or meatus of the urethra, normally placed at the tip of glans penis; it presents as a vertical slit, possibly bounded on either side by two small labia-like projections, In some cases the slit may be more rounded. This occurs naturally in some males and may also be a side effect of excess skin removal during circumcision. Congenital misplacement of the urethral orifice is called hypospadias when it is located in the underside (ventral aspect) of the penis, and epispadias when located in the dorsum (upper aspect). Improper shaping of the meatus can result in meatal stenosis. HP:0012803 biolink:NamedThing Anisometropia Inequality of refractive power of the two eyes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0003081|SNOMEDCT_US:3289004|MSH:D015858 hecht 2014-05-25T03:05:21Z human_phenotype owl:Class HP:0000539 biolink:NamedThing Abnormality of refraction An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025843 human_phenotype owl:Class UBERON:0002244 biolink:NamedThing premaxilla One of the bones of the upper jaw situated between and in front of the maxillae[VHOG]. tmpxe7fu0cj_hp_relaxed.owl premaxillary bone|os incisivum|premaxillae|incisive bone|premaxillary|premaxilla bone FMA:77231|EMAPA:17641|FMA:76869|EHDAA:8033|TAO:0000567|ZFA:0000567|MA:0001493|AAO:0000461|VHOG:0000426|EHDAA:6962 http://upload.wikimedia.org/wikipedia/commons/4/4a/Gray160.png requires checking embryonic vs adult; isa fetal organ part in FMA; adult bone of upper jaw in AAO and ZFA; split. Note that we have loops if we add develops_from UBERON:0005620 primary palate UBERON:0002253 uberon owl:Class Dermal bone that forms the anteriormost element of the upper jaw. It articulates with the maxilla posterodorsally and its antimere medially. The premaxilla is paired.[TAO]|Paired, intramembranous bones located at the anterior end of the skull; they form the anterior-most segment of the maxillary arch.[AAO]|One of the bones of the upper jaw situated between and in front of the maxillae. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] relationship loss: overlaps premaxillary-maxillary joint (TAO:0002260)[TAO]|relationship loss: overlaps mesethmoid-premaxillary joint (TAO:0001676)[TAO]|relationship loss: overlaps inter-premaxillary joint (TAO:0001950)[TAO] (...) in all higher vertebrates a premaxilla is present (...) (reference 1); Although the presence of a tooth-bearing outer buccal arcade (premaxilla, maxilla, dentary) is cited as a common character of Osteichthyes, dipnoans lack all three bones (...) (reference 2).[well established][VHOG] UBERON:0002514 biolink:NamedThing intramembranous bone Bone tissue forms directly within mesenchyme, and does not replace other tissues[TAO]. Intramembranous ossification is the formation of bone in which osteoblasts secrete a collagen-proteoglycan matrix that binds calcium salts and becomes calcified[GO]. Intramembranous ossification is the way flat bones and the shell of a turtle are formed[GO]. Unlike endochondral ossification, cartilage is not present during intramembranous ossification[WP]. tmpxe7fu0cj_hp_relaxed.owl intramembranous bones|membrane bone TAO:0001644|ZFA:0001635|Wikipedia:Intramembranous_ossification|EMAPA:36615 uberon owl:Class Bone that forms directly within mesenchyme, and does not replace other tissues.[TAO] [In TAO], This term was made obsolete because it is considered a synonym of membrane bone (VSAO:0000023).[TAO] UBERON:0007315 biolink:NamedThing internal pudendal artery The internal pudendal artery is an artery that branches off the internal iliac artery, providing blood to the external genitalia. The internal pudendal artery is the terminal branch of the anterior trunk of the internal iliac artery. It is smaller in the female than in the male. tmpxe7fu0cj_hp_relaxed.owl internal pudic artery|internal pudendal vessels|arteria pudenda interna FMA:18835 http://upload.wikimedia.org/wikipedia/commons/3/3a/Gray1244.png uberon owl:Class HP:0033894 biolink:NamedThing Renal arteriolar intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 22:16:17+00:00 peter owl:Class HP:0033890 biolink:NamedThing Abnormal renal arteriole lumen morphology Abnormal structural characteristics of the interior space (lumen) of renal arterioles. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 22:09:47+00:00 peter owl:Class PATO:0000261 biolink:NamedThing maturity tmpxe7fu0cj_hp_relaxed.owl owl:Class PATO:0001995 biolink:NamedThing organismal quality A quality that inheres in an entire organism or part of an organism. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0001711 biolink:NamedThing perimeter An 1-D extent quality inhering in two-dimensional bearer by virtue of being equal to the distance around it. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0010339 biolink:NamedThing Flexion contracture of the 4th toe One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl Joint contractures of the 4th toe UMLS:C4021292 doelkens 2009-07-16T11:41:21Z human_phenotype owl:Class GO:0002686 biolink:NamedThing negative regulation of leukocyte migration Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte migration. tmpxe7fu0cj_hp_relaxed.owl negative regulation of immune cell migration|inhibition of leukocyte migration|negative regulation of leucocyte migration|down regulation of leukocyte migration|down-regulation of leukocyte migration|downregulation of leukocyte migration biological_process owl:Class UBERON:0003500 biolink:NamedThing corneal blood vessel A blood vessel that is part of a cornea [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of cornea|cornea blood vessel EMAPA:36611|MA:0001241 follow up on tracker item uberon owl:Class UBERON:0012253 biolink:NamedThing cervical squamo-columnar junction Region of cervical epithelium where columnar epithelium of endocervic and the stratified non-keratinising squamous epithelium of the ectocervic meet. tmpxe7fu0cj_hp_relaxed.owl squamo-columnar junction of uterine cervix|squamocolumnar junction of uterine cervix|squamocolumnar junction NCIT:C97148 Site of 90% of lower genital tract neoplasia. This junction is presumed, but not proven, to be the embryologic junction of the Müllerian and urogenital sinus epithelia. uberon owl:Class GO:1902250 biolink:NamedThing regulation of erythrocyte apoptotic process Any process that modulates the frequency, rate or extent of erythrocyte apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of RBC apoptotic process|regulation of red blood cell apoptosis|regulation of red blood cell apoptotic process|regulation of RBC apoptosis|regulation of erythrocyte apoptosis rl 2013-06-20T19:30:53Z biological_process owl:Class HP:0010511 biolink:NamedThing Long toe Toes that appear disproportionately long compared to the foot. tmpxe7fu0cj_hp_relaxed.owl Long toes|Long toe|Increased length of toes UMLS:C3150613 This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. If only a subset of the digits of a limb is lengthened, the affected digits should be specified. peter 2009-09-19T10:40:43Z human_phenotype owl:Class HP:0025484 biolink:NamedThing Increased circulating thyroglobulin level An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 16:15:57+00:00 HPO:probinson owl:Class HP:0025483 biolink:NamedThing Abnormal circulating thyroglobulin level A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 16:14:10+00:00 HPO:probinson owl:Class HP:0001181 biolink:NamedThing Adducted thumb In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. tmpxe7fu0cj_hp_relaxed.owl Inward turned thumb|Adducted thumbs UMLS:C3554617 The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3. HP:0005646 human_phenotype owl:Class HP:0009354 biolink:NamedThing Small epiphysis of the proximal phalanx of the 3rd finger Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of innermost long bone of the middle finger UMLS:C4024415 doelkens 2009-01-12T11:19:03Z human_phenotype owl:Class HP:0008610 biolink:NamedThing Infantile sensorineural hearing impairment A form of sensorineural hearing impairment with infantile onset. tmpxe7fu0cj_hp_relaxed.owl Infantile sensorineural hearing loss UMLS:C4021535 human_phenotype owl:Class HP:0011474 biolink:NamedThing Childhood onset sensorineural hearing impairment Sensorineural hearing impairment with childhood onset. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023340 peter 2012-03-30T07:18:09Z human_phenotype owl:Class UBERON:0011931 biolink:NamedThing nasal hair Hair in the nose. tmpxe7fu0cj_hp_relaxed.owl nose hair|hair of vestibular part of nose|hair of nose FMA:53670 uberon owl:Class UBERON:0010171 biolink:NamedThing strand of hair of face A strand of hair that is part of a face. tmpxe7fu0cj_hp_relaxed.owl face hair strand|face hair|facial hair|hair of face FMA:54360 uberon owl:Class UBERON:0009616 biolink:NamedThing presumptive midbrain A presumptive structure that has the potential to develop into a midbrain. tmpxe7fu0cj_hp_relaxed.owl future midbrain|presumptive mesencephalon|early midbrain|mesencephalon EMAPA:16140|Wikipedia:Mesencephalon|EHDAA2:0000615|TAO:0000148|EFO:0003432|BAMS:MES|ZFA:0000148 TODO - unify naming conventions uberon owl:Class GO:1905320 biolink:NamedThing regulation of mesenchymal stem cell migration Any process that modulates the frequency, rate or extent of mesenchymal stem cell migration. tmpxe7fu0cj_hp_relaxed.owl sl 2016-07-15T22:19:14Z biological_process owl:Class UBERON:0005172 biolink:NamedThing abdomen element An organ or element that is in the abdomen. Examples: spleen, intestine, kidney, abdominal mammary gland. tmpxe7fu0cj_hp_relaxed.owl abdomen organ SCTID:272631008|MA:0000522 uberon owl:Class HP:0011190 biolink:NamedThing Uni- and bilateral multifocal epileptiform discharges Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023484 hecht 2011-11-19T10:48:14Z human_phenotype owl:Class HP:0010841 biolink:NamedThing Multifocal epileptiform discharges An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci). tmpxe7fu0cj_hp_relaxed.owl Multifocal EEG abnormality UMLS:C4021219 peter 2010-07-10T08:01:28Z human_phenotype owl:Class UBERON:0014445 biolink:NamedThing acetabular fossa The acetabular fossa is the roughened depression in the centre of the acetabulum, surrounded by the lunate acetabular surface and the acetabular notch. The acetabular fossa provides an insertion point for the teres ligaments that secure the femoral head. tmpxe7fu0cj_hp_relaxed.owl fossa acetabularis (acetabuli)|fossa acetabuli|fossa acetabularis FMA:17269 It is occupied by the ligament of head of femur[WP] uberon owl:Class GO:1904346 biolink:NamedThing positive regulation of gastric mucosal blood circulation Any process that activates or increases the frequency, rate or extent of gastric mucosal blood circulation. tmpxe7fu0cj_hp_relaxed.owl up regulation of gastric mucosal blood circulation|upregulation of gastric mucosal blood circulation|positive regulation of stomach mucosal blood circulation|activation of gastric mucosal blood circulation|up-regulation of stomach mucosal blood circulation|up-regulation of gastric mucosal blood circulation|up regulation of stomach mucosal blood circulation|upregulation of stomach mucosal blood circulation|activation of stomach mucosal blood circulation sl 2015-06-11T21:20:50Z biological_process owl:Class GO:1903524 biolink:NamedThing positive regulation of blood circulation Any process that activates or increases the frequency, rate or extent of blood circulation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of blood circulation|up regulation of hemolymph circulation|up-regulation of hemolymph circulation|upregulation of hemolymph circulation|activation of blood circulation|positive regulation of hemolymph circulation|activation of hemolymph circulation|up regulation of blood circulation|upregulation of blood circulation mr 2014-10-06T18:39:13Z biological_process owl:Class HP:0030645 biolink:NamedThing Central Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0205099|SNOMEDCT_US:26216008 owl:Class GO:0031253 biolink:NamedThing cell projection membrane The portion of the plasma membrane surrounding a plasma membrane bounded cell surface projection. tmpxe7fu0cj_hp_relaxed.owl membrane extension|membrane projection cellular_component owl:Class HP:0011258 biolink:NamedThing Tragal bridge of crus of helix The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix. tmpxe7fu0cj_hp_relaxed.owl Helix, crus, tragal bridge UMLS:C4021182 peter 2011-12-18T05:58:24Z human_phenotype owl:Class GO:0006896 biolink:NamedThing Golgi to vacuole transport The directed movement of substances from the Golgi to the vacuole. tmpxe7fu0cj_hp_relaxed.owl Golgi to vacuole vesicle-mediated transport biological_process owl:Class HP:0011760 biolink:NamedThing Pituitary growth hormone cell adenoma A type of pituitary adenoma that produces growth hormone. tmpxe7fu0cj_hp_relaxed.owl Pituitary somatotropinoma UMLS:C4018860 peter 2012-04-22T03:38:10Z human_phenotype owl:Class GO:0048539 biolink:NamedThing bone marrow development The process whose specific outcome is the progression of the bone marrow over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025306 biolink:NamedThing Acute emergence over minutes Acute appearance of disease manifestations in a period of minutes. tmpxe7fu0cj_hp_relaxed.owl 2016-12-21 01:00:35+00:00 HPO:probinson owl:Class HP:0034008 biolink:NamedThing Opto-chiasmatic atrophy Wasting (atrophy) of the optic chiasm. tmpxe7fu0cj_hp_relaxed.owl 2021-08-22 17:57:25+00:00 peter owl:Class CL:0007003 biolink:NamedThing preodontoblast Skeletogenic cell that has the potential to form an odontoblast, deposits predentine, and arises from a cranial neural crest cell. tmpxe7fu0cj_hp_relaxed.owl haendel 2012-06-15T05:15:11Z cell owl:Class HP:0001476 biolink:NamedThing Delayed closure of the anterior fontanelle A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. tmpxe7fu0cj_hp_relaxed.owl Delayed closure anterior fontanel|Late closure of anterior fontanelle|Late closure of soft spot on the skull|Late closure of large anterior fontanel|Delayed closure of the soft spot on the skull|Delayed closure of anterior fontanelle|Later than typical closing of soft spot of skull|Delayed closure of the bregma sutures|Persistent anterior fontanelle|Late closure of the bregma sutures UMLS:C3840083|UMLS:C4072831|SNOMEDCT_US:295091000119100 human_phenotype owl:Class HP:0000270 biolink:NamedThing Delayed cranial suture closure Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. tmpxe7fu0cj_hp_relaxed.owl Late-closing fontanelle|Delayed fontanelle closure|Delayed closure of the fontanelles|Late closure of fontanelle|Late closing fontanelles|Open sutures|Delayed closure of fontanelles|Delayed closure of fontanels|Delayed fontanel closure|Delayed cranial suture closure|Broad late closing cranial sutures|Delayed closure of fontanel SNOMEDCT_US:82779003|UMLS:C0277828 HP:0003794|HP:0002704 human_phenotype owl:Class UBERON:0001836 biolink:NamedThing saliva A fluid produced in the oral cavity by salivary glands, typically used in predigestion, but also in other functions. tmpxe7fu0cj_hp_relaxed.owl sailva normalis|saliva atomaris|saliva molecularis|salivary gland secretion NCIT:C13275|MA:0002507|GAID:1167|BTO:0001202|MESH:D012463|OpenCyc:Mx4rvVjJ95wpEbGdrcN5Y29ycA|EMAPA:36536|MAT:0000444|ENVO:02000036|CALOHA:TS-0891|UMLS:C0036087|FMA:59862|galen:Saliva uberon owl:Class salivary We classify a wide variety of not necessarily homologous fluids here. In humans, the saliva is a turbid and slightly viscous fluid, generally of an alkaline reaction, and is secreted by the parotid, submaxillary, and sublingual glands. In the mouth the saliva is mixed with the secretion from the buccal glands. In man and many animals, saliva is an important digestive fluid on account of the presence of the peculiar enzyme, ptyalin GO:0060440 biolink:NamedThing trachea formation The process pertaining to the initial formation of a trachea from unspecified parts. The process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the trachea is recognizable. The trachea is the portion of the airway that attaches to the bronchi as it branches. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:2000691 biolink:NamedThing negative regulation of cardiac muscle cell myoblast differentiation Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell myoblast differentiation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of cardiac myoblast differentiation|negative regulation of myocardial precursor cell differentiation yaf 2011-05-25T09:08:06Z biological_process owl:Class GO:0051892 biolink:NamedThing negative regulation of cardioblast differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of cardioblast differentiation, the process in which a relatively unspecialized mesodermal cell acquires the specialized structural and/or functional features of a cardioblast. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating. tmpxe7fu0cj_hp_relaxed.owl down-regulation of cardioblast differentiation|inhibition of cardioblast differentiation|downregulation of cardioblast differentiation|down regulation of cardioblast differentiation biological_process owl:Class HP:0031889 biolink:NamedThing Abnormal VLDL cholesterol concentration Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood. tmpxe7fu0cj_hp_relaxed.owl 2018-05-13 14:47:34+00:00 VLDL is synthesized in the liver and is involved in the transport of triacylglycerol (TAG) to the body. peter owl:Class UBERON:0035036 biolink:NamedThing naris epithelium An epithelium that is part of a naris [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl MA:0003172|EMAPA:35959 uberon owl:Class GO:0051350 biolink:NamedThing negative regulation of lyase activity Any process that stops or reduces the rate of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. tmpxe7fu0cj_hp_relaxed.owl lyase inhibitor|down-regulation of lyase activity|down regulation of lyase activity|inhibition of lyase activity|downregulation of lyase activity biological_process owl:Class GO:0043086 biolink:NamedThing negative regulation of catalytic activity Any process that stops or reduces the activity of an enzyme. tmpxe7fu0cj_hp_relaxed.owl down-regulation of metalloenzyme activity|downregulation of metalloenzyme activity|downregulation of enzyme activity|down regulation of metalloenzyme activity|down regulation of enzyme activity|down-regulation of enzyme activity|negative regulation of metalloenzyme activity|inhibition of metalloenzyme activity|inhibition of enzyme activity|negative regulation of enzyme activity GO:0048553 biological_process owl:Class HP:0007841 biolink:NamedThing Amyloid deposition in the vitreous humor Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity. tmpxe7fu0cj_hp_relaxed.owl Vitreous amyloid deposits|Amyloid deposition in the vitreous humour UMLS:C4024784 human_phenotype owl:Class HP:0010763 biolink:NamedThing Low insertion of columella Insertion of the posterior columella below the nasal base. tmpxe7fu0cj_hp_relaxed.owl Ala higher than columella|Columella, low insertion UMLS:C4021229|UMLS:C4280364 This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. peter 2010-04-24T12:12:25Z human_phenotype owl:Class HP:0009929 biolink:NamedThing Abnormality of the columella An abnormality of the columella. tmpxe7fu0cj_hp_relaxed.owl Deformity of the columella|Anomaly of the columella|Malformation of the columella UMLS:C4024158 The columella is the fleshy external end of the nasal septum. peter 2009-05-05T06:51:28Z human_phenotype owl:Class HP:0007854 biolink:NamedThing Glaucomatous visual field defect tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:370961005|UMLS:C1299694 human_phenotype owl:Class HP:0001123 biolink:NamedThing Visual field defect tmpxe7fu0cj_hp_relaxed.owl Visual field defects|Partial loss of field of vision SNOMEDCT_US:12184005|UMLS:C3887875 human_phenotype owl:Class HGNC:6553 biolink:NamedThing LEP (human) A protein coding gene LEP in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class HP:0006965 biolink:NamedThing Acute necrotizing encephalopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855020 human_phenotype owl:Class HP:0006846 biolink:NamedThing Acute encephalopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C1306587|SNOMEDCT_US:2776000 human_phenotype owl:Class UBERON:0003607 biolink:NamedThing forelimb long bone A long bone that is part of a forelimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl fore limb long bone|long bone of upper extremity|long bone of fore limb|superior member long bone|upper extremity long bone|anteriormost limb long bone|long bone of superior member|wing long bone|long bone of forelimb|long bone of anteriormost limb MA:0000299|EMAPA:35350 uberon owl:Class GO:0032879 biolink:NamedThing regulation of localization Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. tmpxe7fu0cj_hp_relaxed.owl regulation of localisation biological_process owl:Class HP:0500049 biolink:NamedThing Retinopathy of prematurity An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness. tmpxe7fu0cj_hp_relaxed.owl 2018-02-19 18:14:43+00:00 ORCID:0000-0001-7941-2961 owl:Class UBERON:0004857 biolink:NamedThing skeletal muscle connective tissue A connective tissue that surrounds a skeletal muscle tissue. tmpxe7fu0cj_hp_relaxed.owl skeletal muscle interstitial tissue|portion of connective tissue of skeletal muscle|textus connectivus of skeletal muscle tissue|skeletal muscle interstitum|textus connectivus of skeletal muscle|skeletal muscle textus connectivus|portion of connective tissue of skeletal muscle tissue|skeletal muscle tissue connective tissue|connective tissue of skeletal muscle|skeletal muscle tissue textus connectivus|skeletal muscle portion of connective tissue|skeletal muscle tissue portion of connective tissue|connective tissue of skeletal muscle tissue MA:0002868|EMAPA:37743 uberon owl:Class HP:0003949 biolink:NamedThing Abnormality of the elbow metaphyses tmpxe7fu0cj_hp_relaxed.owl Abnormal wide portion of elbow bone UMLS:C4025485 human_phenotype owl:Class UBERON:0007606 biolink:NamedThing ciliated stratified columnar epithelium tmpxe7fu0cj_hp_relaxed.owl FMA:67521 uberon owl:Class UBERON:0007601 biolink:NamedThing ciliated epithelium Epithelium bearing vibratile cilia on the free surface. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0043228 biolink:NamedThing non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. tmpxe7fu0cj_hp_relaxed.owl non-membrane-enclosed organelle|biological condensate https://github.com/geneontology/go-ontology/issues/21881 NIF_Subcellular:sao1456184038 cellular_component owl:Class GO:0050796 biolink:NamedThing regulation of insulin secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0011948 biolink:NamedThing Recurrent acute respiratory tract infection A history of repeated acute infections of the upper or lower respiratory tract. tmpxe7fu0cj_hp_relaxed.owl Acute respiratory tract infection UMLS:C1442786 peter 2012-06-21T08:30:15Z human_phenotype owl:Class GO:0061561 biolink:NamedThing trigeminal ganglion formation The process that gives rise to the trigeminal ganglion. This process pertains to the initial formation of a structure from unspecified parts. tmpxe7fu0cj_hp_relaxed.owl trigeminal ganglia formation dph 2013-07-10T09:08:13Z biological_process owl:Class HP:0009542 biolink:NamedThing Abnormality of the distal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Abnormality of the outermost bone of the 2nd finger|Abnormality of terminal index finger phalanx UMLS:C4021449 doelkens 2009-01-21T10:17:15Z HP:0004140|HP:0004111 human_phenotype owl:Class HP:0004605 biolink:NamedThing Absent vertebral body mineralization A lack of bone mineralization of the vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1860191 human_phenotype owl:Class UBERON:0000912 biolink:NamedThing mucus Mucus is a bodily fluid consisting of a slippery secretion of the lining of the mucous membranes in the body. It is a viscous colloid containing antiseptic enzymes (such as lysozyme) and immunoglobulins. Mucus is produced by goblet cells in the mucous membranes that cover the surfaces of the membranes. It is made up of mucins and inorganic salts suspended in water. tmpxe7fu0cj_hp_relaxed.owl ENVO:02000040|MESH:D009093|galen:Mucus|FMA:66938|UMLS:C0026727|OpenCyc:Mx4rvVjHq5wpEbGdrcN5Y29ycA|NCIT:C13259|GAID:1164|CALOHA:TS-2144 uberon owl:Class mucous|mucoid GO:0032272 biolink:NamedThing negative regulation of protein polymerization Any process that stops, prevents, or reduces the frequency, rate or extent of the process of creating protein polymers. tmpxe7fu0cj_hp_relaxed.owl inhibition of protein polymerization|downregulation of protein polymerization|down-regulation of protein polymerization|down regulation of protein polymerization biological_process owl:Class HP:0032688 biolink:NamedThing Focal aware cognitive seizure with dissociation A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0003937 biolink:NamedThing reproductive gland Any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction. tmpxe7fu0cj_hp_relaxed.owl genitalia gland|sex gland|gland of genitalia|reproductive gland|gland of reproductive system|reproductive system gland MA:0001751 uberon owl:Class UBERON:0008320 biolink:NamedThing common penile artery The artery that serves blood to the penis. It subdivides into three arteries, the bulbourethral artery, the dorsal artery of the penis and the cavernosal artery. tmpxe7fu0cj_hp_relaxed.owl artery of penis|penile artery BTO:0005085|FMA:66318 TODO - split generic structure from arterial tree uberon owl:Class UBERON:0036269 biolink:NamedThing penis blood vessel tmpxe7fu0cj_hp_relaxed.owl vasculature of penis|penis vasculature EMAPA:30807 uberon owl:Class HP:0032647 biolink:NamedThing Renal tubular epithelial cell apoptosis Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0008754 biolink:NamedThing Laryngeal calcification Calcification (abnormal deposits of calcium) in the laryngeal tissues. tmpxe7fu0cj_hp_relaxed.owl Laryngeal calcifications UMLS:C1859158 HP:0008748 human_phenotype owl:Class HP:0032282 biolink:NamedThing Contact dermatitis An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 23:19:54+00:00 peter owl:Class HP:0000964 biolink:NamedThing Eczema Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. tmpxe7fu0cj_hp_relaxed.owl Eczema SNOMEDCT_US:281104002|SNOMEDCT_US:43116000|MSH:D004485|UMLS:C0013595 Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis. HP:0001481 owl:Class HP:0500094 biolink:NamedThing Latex allergy Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis. tmpxe7fu0cj_hp_relaxed.owl 2018-04-27 19:47:57+00:00 owl:Class HP:0011719 biolink:NamedThing Supracardiac total anomalous pulmonary venous connection Type 1 total anomalous pulmonary venous connection. tmpxe7fu0cj_hp_relaxed.owl Total anomalous pulmonary venous connection, supracardiac|Type 1 total anomalous pulmonary venous connection|Supracardiac total anomalous pulmonary venous connexion Fyler:910|UMLS:C4021131|Fyler:0910 peter 2012-04-11T08:50:39Z human_phenotype owl:Class HP:0020167 biolink:NamedThing Hemiretinal vein occlusion A variant of central retinal vein occlusions that involves the superior or inferior half of the retina. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-06 21:12:32+00:00 owl:Class HP:0012636 biolink:NamedThing Retinal vein occlusion Blockage of the retinal vein. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0035328|MSH:D012170|SNOMEDCT_US:46085004 Retinal vein occlusion can lead to edema and ischemia of the retina. peter 2014-01-17T11:43:32Z human_phenotype owl:Class GO:1902684 biolink:NamedThing negative regulation of receptor localization to synapse Any process that stops, prevents or reduces the frequency, rate or extent of receptor localization to synapse. tmpxe7fu0cj_hp_relaxed.owl down-regulation of receptor localization to synapse|down regulation of receptor localization to synapse|down-regulation of receptor localisation to synapse|negative regulation of receptor localisation to synapse|downregulation of receptor localisation to synapse|inhibition of receptor localisation to synapse|inhibition of receptor localization to synapse|down regulation of receptor localisation to synapse|downregulation of receptor localization to synapse kmv 2014-02-07T17:38:41Z biological_process owl:Class HP:0025701 biolink:NamedThing Distended jugular lymphatic sacs The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency. tmpxe7fu0cj_hp_relaxed.owl Distended jugular lymphatic sacs (JLS) may pre-date or accompany raised nuchal translucency or cystic hygroma and are associated with the same range of disorders. These are largely chromosomal aneuploidies or significant copy number variation. Current evidence suggests distended JLS in the absence of raised nuchal translucency are likely to be normal variation. peterrobinson owl:Class NBO:0000515 biolink:NamedThing depressive disorder HP:0000716 tmpxe7fu0cj_hp_relaxed.owl depressive disorder not otherwise specified|DD-NOS 2011-04-09T12:28:31Z George Gkoutos NBO:0000523 behavior_ontology owl:Class GO:0046667 biolink:NamedThing compound eye retinal cell programmed cell death Programmed cell death that occurs in the retina to remove excess cells between ommatidia, thus resulting in a hexagonal lattice, precise with respect to cell number and position surrounding each ommatidium. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0046666 biolink:NamedThing retinal cell programmed cell death Programmed cell death that occurs in the developing retina. tmpxe7fu0cj_hp_relaxed.owl programmed cell death, retina cells|retina cell programmed cell death|programmed cell death, retinal cells|retinal programmed cell death|retina programmed cell death biological_process owl:Class HP:0001830 biolink:NamedThing Postaxial foot polydactyly Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. tmpxe7fu0cj_hp_relaxed.owl Postaxial polydactyly of foot|Extra toe attached near the little toe|Postaxial polydactyly of feet|Polydactyly affecting the 5th toe|Posterior polydactyly of foot|Fibular polydactyly UMLS:C2112129|UMLS:C4020865 The modifier postaxial means that the supernumerary digit is not a hallux. HP:0010346 human_phenotype owl:Class HP:0010322 biolink:NamedThing Abnormality of the 5th toe An anomaly of the little toe. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the pinkie toe|Abnormality of the little toe|Abnormality of the pinky toe UMLS:C4023905 doelkens 2009-07-16T11:37:12Z human_phenotype owl:Class HP:0007513 biolink:NamedThing Generalized hypopigmentation tmpxe7fu0cj_hp_relaxed.owl Fair skin|Pale pigmentation|Generalised hypopigmentation UMLS:C1849923 HP:0000984|HP:0007419 human_phenotype owl:Class UBERON:0001344 biolink:NamedThing epithelium of vagina The epithelial layer of the vagina. tmpxe7fu0cj_hp_relaxed.owl epithelium, vaginal|epithelial tissue of vagina|vaginal epithelium|vagina epithelial tissue|vagina epithelium NCIT:C49313|MA:0001730|FMA:19978|UMLS:C0920840|EMAPA:30991|CALOHA:TS-1325|BTO:0000422 uberon owl:Class FMA: nonkeratinizing stratified squamous epithelium; BTO: Vaginal epithelium is stratified squamous epithelium having a thickness of 15-200 microns; MA has single subclass (squamous) UBERON:0003231 biolink:NamedThing epithelium of hip An epithelium that is part of a hip [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hip epithelium|epithelium of regio coxae|epithelial tissue of regio coxae|hip region epithelium|regio coxae epithelium|regio coxae epithelial tissue|hip epithelial tissue|epithelial tissue of hip region|epithelium of hip region|hip region epithelial tissue|epithelial tissue of hip EHDAA2:0000784|EMAPA:17491|VHOG:0000779|EHDAA:5155|EHDAA:6180 uberon owl:Class CHEBI:25513 biolink:NamedThing neutral glycosphingolipid Any glycosphingolipid containing unsubstituted glycosyl moieties. tmpxe7fu0cj_hp_relaxed.owl neutral glycosphingolipids CHEBI:7543 chebi_ontology owl:Class GO:0098723 biolink:NamedThing skeletal muscle myofibril A myofibril of a skeletal muscle fiber. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:0048511 biolink:NamedThing rhythmic process Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. tmpxe7fu0cj_hp_relaxed.owl rhythm biological_process owl:Class HP:0002049 biolink:NamedThing Proximal renal tubular acidosis A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. tmpxe7fu0cj_hp_relaxed.owl Proximal tubular acidosis|Renal tubular acidosis, proximal|Renal tubular acidosis, type II MSH:D000141|SNOMEDCT_US:24790002|UMLS:C0268435 human_phenotype owl:Class UBERON:0010849 biolink:NamedThing tibia cartilage element A cartilaginous condensation that has the potential to develop into a tibia. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18155 uberon owl:Class GO:0042254 biolink:NamedThing ribosome biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits; includes transport to the sites of protein synthesis. tmpxe7fu0cj_hp_relaxed.owl ribosome biogenesis and assembly GO:0007046 biological_process owl:Class HP:0100829 biolink:NamedThing Galactorrhea Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. tmpxe7fu0cj_hp_relaxed.owl Galactorrhoea|Spontaneous milk flow from breast UMLS:C3665358|MSH:D005687 doelkens 2011-06-09T05:39:15Z human_phenotype owl:Class HP:0009491 biolink:NamedThing Enlarged epiphyses of the 2nd finger Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the index finger UMLS:C4024334 doelkens 2009-01-16T01:07:16Z human_phenotype owl:Class GO:0006521 biolink:NamedThing regulation of cellular amino acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids. tmpxe7fu0cj_hp_relaxed.owl regulation of amino acid metabolism biological_process owl:Class HP:0025533 biolink:NamedThing Peau d'orange tmpxe7fu0cj_hp_relaxed.owl 2017-05-18 01:05:51+00:00 A swelling of the skin in which the skin is tethered by the sweat ducts it contains producing tiny dimples. THe overall appearance is said to resemble the skin (peal) of an orange. HPO:probinson owl:Class UBERON:0009553 biolink:NamedThing distal segment of pedal digit A segment of the pedal digit containing the distal phalanx. Note this class represents a digit segment and thus includes tissues in addition to bone. tmpxe7fu0cj_hp_relaxed.owl toe distal segment|hindlimb digit tip|toe digit tip|tip of toe|P3 segment of pedal digit|distalmost part of toe uberon owl:Class UBERON:0005445 biolink:NamedThing segment of pes A segment of autopod that is part of a pes. tmpxe7fu0cj_hp_relaxed.owl segment of foot|subdivision of foot|foot region|regio pedis|foot subdivision FMA:24993 uberon owl:Class HP:0100909 biolink:NamedThing Sclerosis of the proximal phalanx of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl Increased bone density in innermost bone of the middle finger UMLS:C4021933 human_phenotype owl:Class UBERON:0003886 biolink:NamedThing future coelemic cavity lumen An anatomical cavity that has the potential to develop into a coelemic cavity lumen. tmpxe7fu0cj_hp_relaxed.owl body cavity precursor uberon owl:Class GO:0007610 biolink:NamedThing behavior The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity. tmpxe7fu0cj_hp_relaxed.owl single-organism behavior|behavioural response to stimulus|behavioral response to stimulus|behaviour Wikipedia:Behavior 1. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation reviews. 2. While a broader definition of behavior encompassing plants and single cell organisms would be justified on the basis of some usage (see PMID:20160973 for discussion), GO uses a tight definition that limits behavior to animals and to responses involving the nervous system, excluding plant responses that GO classifies under development, and responses of unicellular organisms that has general classifications for covering the responses of cells in multicellular organisms (e.g. cell chemotaxis). jl 2012-09-20T14:06:08Z GO:0044709|GO:0023032|GO:0044708 biological_process owl:Class HP:0003138 biolink:NamedThing Increased blood urea nitrogen An increased amount of nitrogen in the form of urea in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased blood urea nitrogen|Increased BUN UMLS:C0151539 human_phenotype owl:Class HP:0031970 biolink:NamedThing Abnormal blood urea nitrogen concentration Any deviation from the normal concentration of urea nitrogen in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal BUN concentration 2018-07-07 23:29:10+00:00 peter owl:Class UBERON:0001817 biolink:NamedThing lacrimal gland The lacrimal glands are paired almond-shaped glands, located in or near the orbital region, that secrete the aqueous layer of the tear film.[WP]. tmpxe7fu0cj_hp_relaxed.owl lacrimal-preorbital gland|preorbital gland|tear gland|glandula lacrimalis|glandula praeorbitalis UMLS:C0022907|EFO:0001389|MA:0001296|FMA:59101|BTO:0000044|VHOG:0001476|EMAPA:35463|EV:0100339|NCIT:C12346|CALOHA:TS-0512 http://upload.wikimedia.org/wikipedia/commons/c/cf/Gray896.png uberon owl:Class The preorbital gland is a paired exocrine gland found in many species of hoofed animals, which is homologous to the lacrimal gland found in humans. These glands are trenchlike slits of dark blue to black, nearly bare skin extending from the medial canthus of each eye. They are lined by a combination of sebaceous and sudoriferous glands, and they produce secretions which contain pheromones and other semiochemical compounds. Ungulates frequently deposit these secretions on twigs and grass as a means of communication with other animals. The preorbital gland serves different roles in different species. Pheromone-containing secretions from the preorbital gland may serve to establish an animal's dominance (especially in preparation for breeding), mark its territory, or simply to produce a pleasurable sensation to the animal. Because of its critical role in scent marking, the preorbital gland is usually considered as a type of scent gland. A further function of these glands may be to produce antimicrobial compounds against skin pathogens. Antimicrobial compounds found in these glands may be biosynthesized by the animal itself, or by microorganisms that live in these glands[Wikipedia:Preorbital_gland].|Lobular organ the parenchyma of which consists of glandular acini which communicate the lacrimal sac. Examples: There only two instances, right lacrimal and left lacrimal glands. https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern Innervation is highly complex and species-specific|In humans, they are situated in the upper, outer portion of each orbit SO:0000010 biolink:NamedThing protein_coding tmpxe7fu0cj_hp_relaxed.owl protein-coding Category=external. sequence owl:Class BFO:0000019 biolink:NamedThing quality tmpxe7fu0cj_hp_relaxed.owl bfo owl:Class UBERON:0003845 biolink:NamedThing lower eyelid epithelium An epithelium that is part of a lower eyelid [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of inferior eyelid|inferior eyelid epithelium|epithelium of lower eyelid|epithelial tissue of lower eyelid|lower eyelid epithelial tissue|inferior eyelid epithelial tissue|epithelium of inferior eyelid EMAPA:17832|VHOG:0000637|EHDAA2:0001016 uberon owl:Class UBERON:0010378 biolink:NamedThing mesenchyme from splanchnopleure Mesenchyme that develops_from a splanchnopleure. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001122 uberon owl:Class UBERON:0007173 biolink:NamedThing lateral border of scapula The lateral border (or axillary border, or margin) is the thickest of the three borders of the scapula. It begins above at the lower margin of the glenoid cavity, and inclines obliquely downward and backward to the inferior angle. Immediately below the glenoid cavity is a rough impression, the infraglenoid tuberosity, about 2.5 cm. in length, which gives origin to the long head of the Triceps brachii; in front of this is a longitudinal groove, which extends as far as the lower third of this border, and affords origin to part of the Subscapularis. The inferior third is thin and sharp, and serves for the attachment of a few fibers of the Teres major behind, and of the Subscapularis in front. tmpxe7fu0cj_hp_relaxed.owl axillary border of scapula|margo lateralis scapulae|lateral part of scapula|margo lateralis (scapula)|lateral border of scapula EMAPA:25126|FMA:23239 uberon owl:Class UBERON:0007171 biolink:NamedThing border of scapula tmpxe7fu0cj_hp_relaxed.owl scapular border FMA:23797|EMAPA:25124 uberon owl:Class UBERON:0011143 biolink:NamedThing upper urinary tract Subdivision of urinary system which consists of the kidney and the ureters. tmpxe7fu0cj_hp_relaxed.owl NCIT:C61107|galen:UpperUrinaryTract|FMA:45658 uberon owl:Class UBERON:0012373 biolink:NamedThing sympathetic nerve plexus A nerve plexus that is part of a sympathetic nervous system. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37617|MA:0001160 uberon owl:Class UBERON:0001816 biolink:NamedThing autonomic nerve plexus A nerve plexus that is part of an autonomic nervous system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl plexus nervosus visceralis|visceral plexus|plexus visceralis|visceral nerve plexus|plexus autonomicus|autonomic plexus MA:0000221|FMA:5910|EMAPA:18224 uberon owl:Class GO:0031974 biolink:NamedThing membrane-enclosed lumen The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class PATO:0001958 biolink:NamedThing increased variability of size A variability of size which is relatively high. tmpxe7fu0cj_hp_relaxed.owl high variability of size quality owl:Class PATO:0002300 biolink:NamedThing increased quality A quality that has a value that is increased compared to normal or average. tmpxe7fu0cj_hp_relaxed.owl 2011-06-16T06:39:43Z quality owl:Class HP:0025425 biolink:NamedThing Laryngospasm A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 12:48:07+00:00 HPO:probinson owl:Class HP:0012580 biolink:NamedThing Calcium phosphate nephrolithiasis The presence of calcium- and phosphate-containing calculi (stones) in the kidneys. tmpxe7fu0cj_hp_relaxed.owl Ca2+ phosphate urolithiasis|Ca phosphate nephrolithiasis|Calcium phosphate urolithiasis|Ca2+ phosphate nephrolitiasis|Ca phosphate urolithiasis UMLS:C3671880 peter 2014-01-16T01:34:27Z human_phenotype owl:Class HP:0004724 biolink:NamedThing Calcium nephrolithiasis The presence of calcium-containing calculi (stones) in the kidneys. tmpxe7fu0cj_hp_relaxed.owl Ca2+ nephrolithiasis|Ca2+ kidney stone|Ca nephrolithiasis|Calcium kidney stone|Ca kidney stone UMLS:C1855801 The overwhelming majority of renal calculi contain calcium. human_phenotype owl:Class UBERON:0035074 biolink:NamedThing duct of apocrine sweat gland tmpxe7fu0cj_hp_relaxed.owl ductal part of apocrine sweat gland FMA:70643 uberon owl:Class NCBITaxon:33208 biolink:NamedThing Metazoa tmpxe7fu0cj_hp_relaxed.owl metazoan-|animals|Animalia|metazoans|multicellular animals GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33154 biolink:NamedThing Opisthokonta tmpxe7fu0cj_hp_relaxed.owl opisthokonts|Fungi/Metazoa group GC_ID:1 ncbi_taxonomy owl:Class HP:0006763 biolink:NamedThing Anal canal squamous carcinoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024982 human_phenotype owl:Class HP:0030437 biolink:NamedThing Anal canal neoplasm tmpxe7fu0cj_hp_relaxed.owl Anal canal tumour|Anal canal tumor NCIT:C3262|UMLS:C0345883|SNOMEDCT_US:126850006 owl:Class UBERON:0016476 biolink:NamedThing primary incisor tooth An incisor tooth that is part of a primary dentition. tmpxe7fu0cj_hp_relaxed.owl temporary incisor tooth|deciduous incisor tooth FMA:84200 uberon owl:Class HP:0033227 biolink:NamedThing Glomerular synechial adhesion An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. tmpxe7fu0cj_hp_relaxed.owl 2020-10-30 11:05:52+00:00 peter owl:Class CHEBI:64390 biolink:NamedThing N-hexanoylglycine An N-acylglycine in which the acyl group is specified as hexanoyl. tmpxe7fu0cj_hp_relaxed.owl n-Hexanoylglycine|Hexanoylglycine|N-caproylglycine|Caproylglycine|N-hexanoylglycine|N-(1-oxohexyl)glycine 0 C8H15NO3 InChI=1S/C8H15NO3/c1-2-3-4-5-7(10)9-6-8(11)12/h2-6H2,1H3,(H,9,10)(H,11,12) UPCKIPHSXMXJOX-UHFFFAOYSA-N 173.20960 173.10519 CCCCCC(=O)NCC(O)=O Patent:US5112863|PMID:22770225|HMDB:HMDB0000701|Patent:US4757066|CAS:24003-67-6|Patent:US5238917|Reaxys:1773416|Patent:EP517371|Patent:EP580409|Patent:EP415598|PMID:17190852|Patent:US5559092|Patent:EP226304|Patent:EP572167 chebi_ontology owl:Class NCBITaxon:10090 biolink:NamedThing Mus musculus tmpxe7fu0cj_hp_relaxed.owl mouse|house mouse GC_ID:1 NCBITaxon:85055 ncbi_taxonomy owl:Class NCBITaxon:862507 biolink:NamedThing Mus tmpxe7fu0cj_hp_relaxed.owl Mus GC_ID:1 ncbi_taxonomy owl:Class UBERON:0035642 biolink:NamedThing laryngeal nerve Any nerve that innervates the larynx. tmpxe7fu0cj_hp_relaxed.owl SCTID:307013006|MESH:A08.800.050.050.925.450 uberon owl:Class HP:0002356 biolink:NamedThing Writer's cramp A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. tmpxe7fu0cj_hp_relaxed.owl Writer's cramp MSH:D020821|SNOMEDCT_US:52008007|UMLS:C0154676 human_phenotype owl:Class HP:0004373 biolink:NamedThing Focal dystonia A type of dystonia that is localized to a specific part of the body. tmpxe7fu0cj_hp_relaxed.owl MSH:D020821|SNOMEDCT_US:445006008|UMLS:C0743332 peter 2008-03-18T07:33:00Z HP:0007140 human_phenotype owl:Class HP:0007466 biolink:NamedThing Midfrontal capillary hemangioma tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859339 human_phenotype owl:Class HP:0025279 biolink:NamedThing Migratory tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 15:18:09+00:00 HPO:probinson owl:Class HP:0009980 biolink:NamedThing Complete duplication of the proximal phalanx of the 4th finger Complete duplication of the fourth proximal phalanx of hand. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the proximal bone of the ring finger UMLS:C4024131 doelkens 2009-05-26T02:20:23Z human_phenotype owl:Class HP:0006657 biolink:NamedThing Hypoplasia of first ribs tmpxe7fu0cj_hp_relaxed.owl Small first rib|Underdeveloped first rib|Hypoplastic first ribs|Hypoplastic first rib UMLS:C1834386 HP:0006653|HP:0006614 human_phenotype owl:Class HP:0000773 biolink:NamedThing Short ribs Reduced rib length. tmpxe7fu0cj_hp_relaxed.owl Rib hypoplasia|Short ribs|Hypoplastic ribs SNOMEDCT_US:249696007|UMLS:C0426817 HP:0000908|HP:0009750|HP:0000899 human_phenotype owl:Class HP:0003166 biolink:NamedThing Increased urinary taurine Increased concentration of taurine in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urinary taurine UMLS:C3806447 owl:Class HP:0041080 biolink:NamedThing Abnormal proportion of exhausted T cells A deviation from the normal proportion of exhausted T cell relative to T cell in the blood. tmpxe7fu0cj_hp_relaxed.owl T cell exhaustion is a broad term that has been used to describe the response of T cells to chronic antigen stimulation, first in the setting of chronic viral infection but more recently in response to tumours. owl:Class UBERON:0010977 biolink:NamedThing flexor pre-muscle mass tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000543 uberon owl:Class HP:0100443 biolink:NamedThing Curved middle phalanx of the 3rd toe A deviation from the normal straight form of the middle phalanx of the third toe. tmpxe7fu0cj_hp_relaxed.owl Curved middle bone of 3rd toe UMLS:C4022084 human_phenotype owl:Class HP:0010197 biolink:NamedThing Curved middle toe phalanx A deviation from the normal straight form of one or more middle toe phalanges. tmpxe7fu0cj_hp_relaxed.owl Curved middle phalanges of the toes|Curved middle bones of the toes UMLS:C4021320 doelkens 2009-05-29T01:53:35Z human_phenotype owl:Class HP:0020079 biolink:NamedThing Beta-alaninuria An increased level of beta-alanine in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-02-25 13:34:18+00:00 Beta-alanine is a component of carnosine, anserine and pantothenic acid. It is comprised of propionic acid with the amino group in the 3-position. robinp owl:Class HP:0033098 biolink:NamedThing Increased urinary non-proteinogenic amino acid level An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. tmpxe7fu0cj_hp_relaxed.owl Elevated urinary non-proteinogenic amino acid level peter owl:Class HP:0500079 biolink:NamedThing Alternating hypophoria A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards. tmpxe7fu0cj_hp_relaxed.owl 2018-02-26 19:24:11+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0031725 biolink:NamedThing Hypophoria A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 14:23:16+00:00 peter owl:Class GO:0070254 biolink:NamedThing mucus secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class CL:0000234 biolink:NamedThing phagocyte Any cell capable of ingesting particulate matter via phagocytosis. tmpxe7fu0cj_hp_relaxed.owl FMA:83806|BTO:0001044 cell owl:Class GO:0003164 biolink:NamedThing His-Purkinje system development The process whose specific outcome is the progression of the His-Purkinje system over time, from its formation to the mature structure. The His-Purkinje system receives signals from the AV node and is composed of the fibers that regulate cardiac muscle contraction in the ventricles. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-01T02:07:12Z biological_process owl:Class GO:0003229 biolink:NamedThing ventricular cardiac muscle tissue development The process whose specific outcome is the progression of ventricular cardiac muscle over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl ventricular myocardium development dph 2009-10-13T10:56:01Z biological_process owl:Class CHEBI:37445 biolink:NamedThing folic acids A group of heterocyclic compounds based on the pteroic acid skeleton conjugated with one or more L-glutamic acid units. tmpxe7fu0cj_hp_relaxed.owl folate|folates CHEBI:24074|CHEBI:24076 chebi_ontology owl:Class CHEBI:176842 biolink:NamedThing vitamin B9 Any B-vitamin that exhibits biological activity against vitamin B9 deficiency. Vitamin B9 refers to the many forms of folic acid and its derivatives, including tetrahydrofolic acid (the active form), methyltetrahydrofolate (the primary form found in blood), methenyltetrahydrofolate, folinic acid amongst others. They are present in abundance in green leafy vegetables, citrus fruits, and animal products. Lack of vitamin B9 leads to anemia, a condition in which the body cannot produce sufficient number of red blood cells. Symptoms of vitamin B9 deficiency include fatigue, muscle weakness, and pale skin. tmpxe7fu0cj_hp_relaxed.owl vitamins B9|folate vitamer|folate vitamers|vitamin B9 vitamer|vitamin B9 vitamers|vitamin B9|vitamin B-9 chebi_ontology owl:Class HP:0011691 biolink:NamedThing Supraventricular tachycardia with a concealed accessory pathway on the left free wall tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023230 peter 2012-04-10T10:36:49Z human_phenotype owl:Class HP:0011689 biolink:NamedThing Supraventricular tachycardia with a concealed accessory connection Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm. tmpxe7fu0cj_hp_relaxed.owl Supraventricular tachycardia with a concealed accessory connexion UMLS:C4023231 peter 2012-04-10T10:35:31Z human_phenotype owl:Class HP:0003458 biolink:NamedThing EMG: myopathic abnormalities The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. tmpxe7fu0cj_hp_relaxed.owl EMG: myopathic changes|EMG: myopathy|Myopathic electromyogram UMLS:C4021726 HP:0003322|HP:0009021|HP:0003711 owl:Class HP:0000372 biolink:NamedThing Abnormality of the auditory canal An abnormality of the External acoustic tube (also known as the auditory canal). tmpxe7fu0cj_hp_relaxed.owl Auditory canal abnormality UMLS:C4021807 human_phenotype owl:Class GO:0003221 biolink:NamedThing right ventricular cardiac muscle tissue morphogenesis The process in which the anatomical structures of the right cardiac ventricle muscle are generated and organized. tmpxe7fu0cj_hp_relaxed.owl right ventricle myocardium morphogenesis dph 2009-10-13T10:26:33Z biological_process owl:Class UBERON:0010683 biolink:NamedThing pedal digit 4 phalanx cartilage element A cartilage element that is part of a pedal digit 4 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl hind limb digit 4 phalanx cartilage condensation|foot digit 4 phalanx cartilage element|pedal digit IV phalanx cartilage element EMAPA:18122 uberon owl:Class HP:0006762 biolink:NamedThing Renal pelvic carcinoma The presence of a carcinoma in the renal pelvis. tmpxe7fu0cj_hp_relaxed.owl NCIT:C2916|UMLS:C4024983 human_phenotype owl:Class CHEBI:28659 biolink:NamedThing phosphorus atom tmpxe7fu0cj_hp_relaxed.owl phosphore|phosphorus|fosforo|Phosphor|15P|Phosphorus|P 0 P InChI=1S/P OAICVXFJPJFONN-UHFFFAOYSA-N 30.97376 30.97376 [P] WebElements:P|Gmelin:16235|CAS:7723-14-0|KEGG:C06262 CHEBI:8168|CHEBI:26080 chebi_ontology owl:Class CHEBI:33300 biolink:NamedThing pnictogen Any p-block element atom that is in group 15 of the periodic table: nitrogen, phosphorus, arsenic, antimony and bismuth. tmpxe7fu0cj_hp_relaxed.owl nitrogenoideos|pnictogenes|pnictogens|pnictogene|group V elements|nitrogenoides|group 15 elements chebi_ontology owl:Class HP:0002317 biolink:NamedThing Unsteady gait tmpxe7fu0cj_hp_relaxed.owl Gait instability|Unsteady walk UMLS:C0231686|SNOMEDCT_US:394616008|MSH:D020233|SNOMEDCT_US:22631008 human_phenotype owl:Class GO:1902224 biolink:NamedThing ketone body metabolic process The chemical reactions and pathways involving ketone body. tmpxe7fu0cj_hp_relaxed.owl ketone body metabolism pr 2013-06-13T10:37:54Z biological_process owl:Class GO:0006091 biolink:NamedThing generation of precursor metabolites and energy The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. tmpxe7fu0cj_hp_relaxed.owl energy pathways|metabolic energy generation|intermediary metabolism biological_process owl:Class CL:0002363 biolink:NamedThing keratocyte A keratocyte is a specialized fibroblast residing in the cornea stroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. This corneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components. This cell type secretes collagen I, V, VI, and keratin sulfate. tmpxe7fu0cj_hp_relaxed.owl corneal fibroblast|corneal keratocyte tmeehan 2010-09-22T01:57:40Z cell owl:Class GO:0022406 biolink:NamedThing membrane docking The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0031775 biolink:NamedThing Neurogenic strabismus An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them. tmpxe7fu0cj_hp_relaxed.owl Paralytic strabismus 2018-01-27 11:35:03+00:00 peter owl:Class HP:0030261 biolink:NamedThing Absent penis Lack of recognizable penile structures. tmpxe7fu0cj_hp_relaxed.owl Absent penis|Penis aplasia|Aplasia of the penis|Aphallia SNOMEDCT_US:59981001|SNOMEDCT_US:204908001|UMLS:C0555231 Absence of the penis is always accompanied by abnormal position of the meatus (usually in the perineum, sometimes in the rectum), may be accompanied by Cryptorchidism, and is often associated with non-genital anomalies, which all should be coded separately. Absent penis should be differentiated from a penis concealed within pre-pubic fat tissue. HP:0040316 owl:Class HP:0008760 biolink:NamedThing Violent behavior tmpxe7fu0cj_hp_relaxed.owl Violent behaviour|Violent behavior SNOMEDCT_US:248004009|UMLS:C0424323 human_phenotype owl:Class HP:0006919 biolink:NamedThing Abnormal aggressive, impulsive or violent behavior tmpxe7fu0cj_hp_relaxed.owl Aggressive/violent behaviour|Abnormal aggressive, impulsive or violent behaviour|Aggressive/violent behavior UMLS:C4024963 human_phenotype owl:Class HP:0002599 biolink:NamedThing Head titubation A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1608410 Titubation often accompanies midline cerebellar lesions. The 3-4 per second frequency of titubation is faster than the head nodding/bobbing that can be seen with thalamic lesions. The original description of head titubation in 1899 by Gowers (see PMID:4821687) was: As the disease progresses, some jerky irregularity develops in the movement of the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea. human_phenotype owl:Class HP:0040213 biolink:NamedThing Hypopnea Hypopnea is referring to breathing that is abnormally shallow. tmpxe7fu0cj_hp_relaxed.owl Shallow breathing UMLS:C0235546|SNOMEDCT_US:386614005 Not to be confused with Hypoventilation. Hypopnea is distinct from apnea in which there is no breathing. owl:Class HP:0011740 biolink:NamedThing Glucocortocoid-insensitive primary hyperaldosteronism A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids. tmpxe7fu0cj_hp_relaxed.owl Familial primary hyperaldosteronism type 2 UMLS:C4020742|UMLS:C4023208 peter 2012-04-21T09:29:51Z human_phenotype owl:Class HP:0011736 biolink:NamedThing Primary hyperaldosteronism A form of hyperaldosteronism caused by a defect within the adrenal gland. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:190507007|SNOMEDCT_US:258117004|MSH:D006929|UMLS:C1384514 peter 2012-04-21T09:26:05Z human_phenotype owl:Class HP:0033587 biolink:NamedThing Vulvar abscess A circumscribed area of pus or necrotic debris in the vulvar region. tmpxe7fu0cj_hp_relaxed.owl 2021-01-27 21:11:53+00:00 peter owl:Class HP:0009730 biolink:NamedThing Rhabdomyoma A benign tumor of striated muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0035411|NCIT:C3358|SNOMEDCT_US:302846007|SNOMEDCT_US:402877008|MSH:D012207|SNOMEDCT_US:43375002 peter 2009-01-31T10:54:01Z human_phenotype owl:Class HP:0000842 biolink:NamedThing Hyperinsulinemia An increased concentration of insulin in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated insulin level MSH:D006946|SNOMEDCT_US:83469008|UMLS:C0020459 human_phenotype owl:Class UBERON:0015850 biolink:NamedThing upper left incisor tusk tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0003908 biolink:NamedThing Corner fracture of metaphysis Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias. tmpxe7fu0cj_hp_relaxed.owl Metaphyseal corner fracture|Bucket handle fracture UMLS:C4025516 A corner fracture is a subepiphyseal planer fracture through immature metaphyseal bone. The appearance of a corner, avulsion or bucket handle depends on the extent of bone failure and radiographic projection. Bone can fail in this pattern from both shearing and tensile stresses. The weakest area of bone for a given loading condition determines the injury threshold for that structure. owl:Class HP:0007308 biolink:NamedThing Extrapyramidal dyskinesia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1848528 human_phenotype owl:Class CL:1001579 biolink:NamedThing cerebral cortex glial cell Glial cell of cerebral cortex. tmpxe7fu0cj_hp_relaxed.owl cerebral cortex glial cells|brain cortex glial cell|cerebrum cortex glial cell CALOHA:TS-1256 owl:Class CL:0000125 biolink:NamedThing glial cell A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. tmpxe7fu0cj_hp_relaxed.owl neuroglial cell|neuroglia FMA:54536|CALOHA:TS-0415|BTO:0002606 cell owl:Class HP:0032767 biolink:NamedThing Focal autonomic seizure with piloerection A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0006048 biolink:NamedThing Distal widening of metacarpals Abnormal increase in width of the distal region of the metacarpal bones. tmpxe7fu0cj_hp_relaxed.owl Wide outermost end of long bone UMLS:C1865254 human_phenotype owl:Class UBERON:0013228 biolink:NamedThing sweat gland of eyelid Glands of Moll, also known as ciliary glands, are modified apocrine sweat glands that are found on the margin of the eyelid. They are next to the base of the eyelashes, and anterior to the Meibomian glands within the distal eyelid margin. These glands are relatively large and tubular-shaped. The glands of Moll are named after Dutch oculist Jacob Anton Moll (1832-1914). Glands of Moll empty into the adjacent lashes. Glands of Moll and Zeis secrete lipid that adds to the superficial layer of the tear film, retarding evaporation. The glands of Moll are prone to infection and blockage of its duct with sebum and cell debris. Blockage of the gland's duct causes swelling which can manifest itself as a stye. tmpxe7fu0cj_hp_relaxed.owl Moll's gland|ciliary gland|gland of Moll|ciliary sweat gland of eyelid|ciliary gland of moll NCIT:C32679|FMA:59159 uberon owl:Class HGNC:12805 biolink:NamedThing XDH (human) A protein coding gene XDH in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class UBERON:0003640 biolink:NamedThing pedal digit 1 phalanx A phalanx that is part of a foot digit 1 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl phalanx of foot digit 1|hallux long bone of digit|hind limb digit 1 phalanx|digit long bone of hallux|long bone of digit of foot digit 1|phalanx of hallux|hallux digit long bone|digit long bone of foot digit 1|phalanx of first toe|foot digit 1 long bone of digit|long bone of digit of hallux|hallux phalanx|phalanx of great toe|foot digit 1 phalanx|phalanx of first digit of foot|foot digit 1 digit long bone|big toe phalanx|pedal digit I phalanx|phalanx of big toe NCIT:C52778|UMLS:C1708080|FMA:32884|MA:0001381|EMAPA:19124 uberon owl:Class UBERON:0002318 biolink:NamedThing white matter of spinal cord The regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. tmpxe7fu0cj_hp_relaxed.owl spinal cord white matter|white substance of spinal cord|substantia alba medullae spinalis|spinal cord white matter of neuraxis|white matter of neuraxis of spinal cord|spinal cord white substance EMAPA:35795|SCTID:279436006|DHBA:146035088|FMA:83945|NCIT:C33893|MA:0000910|UMLS:C0458457|BAMS:SCwhite uberon owl:Class GO:0031667 biolink:NamedThing response to nutrient levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0036014 biolink:NamedThing gluteal sulcus A horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg. tmpxe7fu0cj_hp_relaxed.owl horizontal gluteal crease|sulcus glutealis|gluteal fold|gluteal crease FMA:20233 Children with developmental dysplasia of the hips are born with uneven gluteal folds and can be diagnosed with physical examination and sonogram uberon owl:Class N7c9dbeb6734142af87569c31d92f0dea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0061550 biolink:NamedThing cranial ganglion development The process whose specific outcome is the progression of a cranial ganglion over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl cranial ganglia development dph 2013-07-10T08:40:14Z biological_process owl:Class Nf423328857a44b33a6bff93413f8a8a3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7e0adccdec3841019e5933566ca16044 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0018226 biolink:NamedThing pulmonary part of lymphatic system An organ system subdivision that is the part of the lymphoid system that includes the pulmonary lymphatic vessels. tmpxe7fu0cj_hp_relaxed.owl pulmonary lymphatic chain|pulmonary lymphatic vasculature FMA:67999 uberon owl:Class UBERON:0000113 biolink:NamedThing post-juvenile adult stage The stage of being a sexually mature adult animal. tmpxe7fu0cj_hp_relaxed.owl adult stage BILS:0000113|OGES:000027|OGES:000026|ZFS:0000044|EV:0300070|EV:0300064|XAO:1000093|MmusDv:0000110|MIAA:0000403 uberon https://github.com/obophenotype/uberon/issues/345|https://github.com/obophenotype/uberon/issues/499 owl:Class HP:0025348 biolink:NamedThing Abnormality of the corneal limbus An anomaly of the margin of the cornea overlapped by the sclera. tmpxe7fu0cj_hp_relaxed.owl 2017-02-12 23:58:19+00:00 HPO:probinson owl:Class N276dedccc690450587a46eda08b8b6d1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000071 biolink:NamedThing Ureteral stenosis The presence of a stenotic, i.e., constricted ureter. tmpxe7fu0cj_hp_relaxed.owl Narrowing of the ureter UMLS:C0521618|SNOMEDCT_US:95574003 human_phenotype owl:Class N02748e2950b0468083e429a8c56bb222 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N91ea8ee3dc9c4204b3fe7055f7af99fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010039 biolink:NamedThing food storage organ An organ of the digestive tract that is capable of retaining and storing food. tmpxe7fu0cj_hp_relaxed.owl BSA:0000123|TGMA:0001041|TADS:0000172 This is a very broad functionally defined grouping class that collects disparate structures from insects to vertebrates uberon owl:Class UBERON:0005409 biolink:NamedThing alimentary part of gastrointestinal system The part of the digestive system that excludes the hepatobiliary system. tmpxe7fu0cj_hp_relaxed.owl gastrointestinal (GI) tract|GI tract|alimentary tract|gastroenterological system|alimentary system|gastro-intestinal system|gastrointestinal tract|gastrointestinal system CALOHA:TS-0407|MESH:A03.492|EHDAA:514|MA:0000323|GAID:294|EHDAA2:0000110|EMAPA:16246|EV:0100056|FMA:71132|UMLS:C0012240|VHOG:0000412|SCTID:373871007|NCIT:C12378|BTO:0000058|galen:GastrointestinalTract the decision to split digestive and gastrointestinal in this way may be revisited. As it currently stands, this class more closely aligns what MA calls the alimentary system uberon owl:Class The system that includes the esophagus, stomach, small and large intestine, anus, liver, biliary tract, and pancreas[ncithesaurus:Gastrointestinal_System]. All metazoans (with degenerate exceptions) have some sort of digestive cavity with a means of entrance to and exit from it.[well established][VHOG] that many anatomy ontologies consider this synonymous with digestive system. here we follow MA in dividing digestive system into gastrointestinal and hepatobiliary. hepatobiliary includes the liver and biliary tract. species-specific AO classes are categorized according to whether liver is included. For example, XAO includes liver as part of XAO:0000125 alimentary system, so we assume this class is the more generic class. We have one entity that is part of both gastrointestinal and hepatobiliary systems: hepatopancreatic ampulla. HP:0010827 biolink:NamedThing Abnormality of the seventh cranial nerve Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the facial nerve UMLS:C4021223 peter 2010-07-10T04:04:55Z human_phenotype owl:Class N506487eef71a4ee7bd15247df3816b42 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd79e1c3cba3f4f3aa2c1b39b7392a651 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:28300 biolink:NamedThing glutamine An alpha-amino acid that consists of butyric acid bearing an amino substituent at position 2 and a carbamoyl substituent at position 4. tmpxe7fu0cj_hp_relaxed.owl glutamine|Hgln|Glutamin|2,5-diamino-5-oxopentanoic acid|2-amino-4-carbamoylbutanoic acid|Glutaminsaeure-5-amid|glutamic acid gamma-amide|2-Aminoglutaramic acid|Glutamine 0 C5H10N2O3 InChI=1S/C5H10N2O3/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H2,7,8)(H,9,10) ZDXPYRJPNDTMRX-UHFFFAOYSA-N 146.14458 146.06914 NC(CCC(N)=O)C(O)=O CAS:585-21-7|Wikipedia:Glutamine|KNApSAcK:C00001359|Reaxys:1723795|Gmelin:27318|KEGG:C00303|Beilstein:1723795|CAS:6899-04-3 CHEBI:5432|CHEBI:24316 chebi_ontology owl:Class UBERON:0010709 biolink:NamedThing pelvic complex Appendage girdle complex that when present, encompasses the pelvic appendicular skeleton and the pelvic girdle. tmpxe7fu0cj_hp_relaxed.owl lower limb and pelvic girdle|pelvic girdle plus posterior limb or fin|pelvic girdle plus pelvic limb or fin|pelvic appendage/girdle complex|lower limb and pelvis|lower limb EMAPA:37863|FMA:7184|VSAO:0000215 uberon owl:Class Appendage girdle complex that when present, encompasses the pelvic appendage and the pelvic girdle.[VSAO] note that the FMA uses the terms 'upper limb' and 'lower limb' to refer to the entire appendage complex (free limb plus girdle region). Note the MA class 'hindlimb' may also belong here UBERON:0012476 biolink:NamedThing skeleton of pelvic complex The collection of all skeletal elements in a pelvic complex - i.e. the combination of free limb or fin plus pelvic girdle. tmpxe7fu0cj_hp_relaxed.owl set of bones of lower limb|pelvic complex skeleton|ossa membri inferioris|skeleton of posterior limb/fin and girdle|bones of lower limb|lower limb skeleton FMA:24140 uberon owl:Class GO:0030225 biolink:NamedThing macrophage differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage. tmpxe7fu0cj_hp_relaxed.owl macrophage cell differentiation biological_process owl:Class UBERON:0005144 biolink:NamedThing metanephric glomerular capillary This process pertains to the initial formation of a structure from unspecified parts[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0000081 biolink:NamedThing metanephros In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine[GO]. tmpxe7fu0cj_hp_relaxed.owl hind kidney|metanephric kidney|definitive kidney|definite kidney|metanephron EHDAA:3089|EMAPA_RETIRED:17207|EHDAA2:0001137|NCIT:C34209|UMLS:C0231049|VHOG:0000039|EMAPA:17373|EHDAA:5911|BTO:0001543|FMA:72172 TODO check developmental relationships uberon owl:Class A kidney formed of nephric tubules arising in the posterior region of the nephric ridge and drained by a ureter; replaces the embryonic pronephros and mesonephros [in mammals]. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.745][VHOG] The ureteric diverticulum grows dorsally into the posterior region of the nephric ridge. Here it enlarges and stimulates the growth of metanephric tubules that come to make up the metanephric kidney. The metanephros becomes the adult kidney of amniotes.[well established][VHOG] metanephric During the fifth week of gestation, the mesonephric duct develops an outpouching, the ureteric bud, near its attachment to the cloaca. This bud, also called the metanephrogenic diverticulum, grows posteriorly and towards the head of the embryo. The elongated stalk of the ureteric bud, the metanephric duct, later forms the ureter. As the cranial end of the bud extends into the intermediate mesoderm, it undergoes a series of branchings to form the collecting duct system of the kidney. It also forms the major and minor calyces and the renal pelvis UBERON:0002120 biolink:NamedThing pronephros In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]. tmpxe7fu0cj_hp_relaxed.owl pronephric kidney|pronephron|embryonic kidney|archinephron XAO:0002000|EMAPA:16579|TAO:0000151|NCIT:C34280|FMA:72170|VHOG:0000037|EHDAA2:0001570|MIAA:0000117|BTO:0001541|EHDAA:1017|AAO:0011089|MAT:0000117|UMLS:C0231048|ZFA:0000151|EFO:0000927 Once the more complex mesonephros forms the pronephros undergoes apoptosis in amphibians. In fishes the nephron degenerates but the organ remains and becomes a component of the immune system[Wikipedia:Pronephros]. // TODO - check developmental relationships. Note that we previously include the ZFA/XAO terms under the more specific 'pronephric kidney', but these are now merged. TODO GCI: relationship: capable_of GO:0030104 UBERON:0005794 uberon owl:Class The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion.Kimmel et al, 1995.[TAO]|Organ that serves as a transient kidney, providing osmoregulation during early developmental stages and then degenerating during metamorphosis.[AAO]|A kidney formed of nephric tubules arising in the anterior region of the nephric ridge; forms only as a transient embryonic structure. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.748][VHOG] In all vertebrate embryos, the kidney begins with the differentiation of a few renal tubules from the anterior end of the nephric ridge overlying the pericardial cavity. (...) This early-developing embryonic kidney is called the pronephros.[well established][VHOG] pronephric UBERON:0005754 biolink:NamedThing rostral part of nephrogenic cord The initial renal anlage that develops from the most rostral part of the nephrogenic cord is termed the pronephros. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0018326 biolink:NamedThing ilioischiadic foramen Situated just caudal to the acetabulum, the foramen is bound dorsally by the illium and ventrally by the ischium. The foramen transmitts the ischiadic nerves and vessels (Baumel et al. 1993). tmpxe7fu0cj_hp_relaxed.owl UBERONTEMP:63e09c69-ac98-49ba-b232-2da5c7b19019 uberon owl:Class UBERON:0001322 biolink:NamedThing sciatic nerve A large nerve that supplies nearly the whole of the skin of the leg, the muscles of the back of the thigh, and those of the leg and foot. It begins in the lower back and runs through the buttock and down the lower limb. tmpxe7fu0cj_hp_relaxed.owl nervus sciaticus|nervus ischiadicus|ischiadic nerve|ischiatic nerve BTO:0001221|FMA:19034|MA:0001172|BIRNLEX:1133|EHDAA:5659|EFO:0001417|CALOHA:TS-0899|VHOG:0000894|OpenCyc:Mx4rv7MlDJwpEbGdrcN5Y29ycA|EMAPA:18577|NCIT:C52810|GAID:852|MESH:D012584|UMLS:C0036394|EHDAA2:0001779 http://upload.wikimedia.org/wikipedia/commons/3/3a/Gray1244.png uberon owl:Class mouse sciatic nerve origins predominantly from the third lumbar (L3) and L4 spinal nerves, unlike the L4 and L5 in rats - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2700063/ GO:0007416 biolink:NamedThing synapse assembly The aggregation, arrangement and bonding together of a set of components to form a synapse. This process ends when the synapse is mature (functional). tmpxe7fu0cj_hp_relaxed.owl synaptogenesis|synapse biogenesis Wikipedia:Synaptogenesis biological_process owl:Class GO:0045202 biolink:NamedThing synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. tmpxe7fu0cj_hp_relaxed.owl mixed synapse|synaptic junction|electrotonic synapse NIF_Subcellular:sao914572699|Wikipedia:Chemical_synapse cellular_component owl:Class UBERON:0007812 biolink:NamedThing post-anal tail A tail that extends from the posterior tip of the organism to the anus, contains muscle and skeleton. tmpxe7fu0cj_hp_relaxed.owl postanal tail|muscular postanal tail|post-vent region|post-anal fin tail NCIT:C77663|MA:0000008|AAO:0010338|EMAPA:16748|UMLS:C0039259|TAO:0001117|XAO:0003026|ZFA:0001117 uberon owl:Class Anatomical structure that is the terminal, flexible posterior appendage of the organism.[AAO]|Organism subdivision which is the part of the body posterior to the vent which includes the anal and caudal fins.[TAO] present at some time in chordate life history (eg in Urochordates, present only in free-swimming larvae). Function: propellor locomotion (in some species) N502fdf74f20c48e5b959c5aede19be24 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002155 biolink:NamedThing Hypertriglyceridemia An abnormal increase in the level of triglycerides in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased plasma triglycerides|Increased plasma Tg levels|Increased serum triglycerides|Increased triglycerides|Increased circulating Tg levels UMLS:C1522137 HP:0003082|HP:0008332|HP:0008174 human_phenotype owl:Class N5aa31ba8c6b44ca29cc7ccabfbed6a43 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001485 biolink:NamedThing knee joint The knee joint joins the thigh with the leg and consists of two articulations: one between the femur and tibia, and one between the femur and patella. It is the largest and most complicated joint in the human body. The knee is a mobile trocho-ginglymus (i.e. a pivotal hinge joint), which permits flexion and extension as well as a slight medial and lateral rotation[WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl articulatio genus|joint of knee GAID:114|MA:0000471|galen:KneeJoint|NCIT:C32898|EMAPA:19137|MESH:D007719|UMLS:C0022745|VHOG:0001003|FMA:35175|EFO:0001957|OpenCyc:Mx4rwCuaYZwpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/c/ca/Knee.agr.jpg uberon owl:Class UBERON:0006810 biolink:NamedThing olecranon The olecranon is a large, thick, curved bony eminence of the forearm that projects behind the elbow. It is situated at the upper (proximal) end of the ulna, one of the two bones in the forearm. When the hand faces forward the olecranon faces towards the back (posteriorly). It is bent forward at the summit so as to present a prominent lip which is received into the olecranon fossa of the humerus in extension of the forearm. Its base is contracted where it joins the body and the narrowest part of the upper end of the ulna. Its posterior surface, directed backward, is triangular, smooth, subcutaneous, and covered by a bursa. Its superior surface is of quadrilateral form, marked behind by a rough impression for the insertion of the Triceps brachii; and in front, near the margin, by a slight transverse groove for the attachment of part of the posterior ligament of the elbow-joint. Its anterior surface is smooth, concave, and forms the upper part of the semilunar notch. Its borders present continuations of the groove on the margin of the superior surface; they serve for the attachment of ligaments, viz. , the back part of the ulnar collateral ligament medially, and the posterior ligament laterally. From the medial border a part of the Flexor carpi ulnaris arises; while to the lateral border the anconeus muscle is attached. tmpxe7fu0cj_hp_relaxed.owl olecranon process|ulnar process|olecranon process of ulna NCIT:C33200|FMA:39795|UMLS:C0223710|AAO:0000843 http://upload.wikimedia.org/wikipedia/commons/6/60/Gray212.png check AAO uberon owl:Class Large and thick process situated at the proximal (upper) end of the ulna. Its inner face forms the medial articular surface that articulates with the humeral head.[AAO] UBERON:0006264 biolink:NamedThing mouth-foregut junction An anatomical junctions that overlaps the mouth and foregut. tmpxe7fu0cj_hp_relaxed.owl EMAPA:16258|RETIRED_EHDAA2:0001205|VHOG:0000592|EHDAA:534 uberon owl:Class HP:0010327 biolink:NamedThing Flexion contracture of the 2nd toe One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl Joint contractures of the 2nd toe UMLS:C4021296 doelkens 2009-07-16T11:40:18Z human_phenotype owl:Class N4310819167734e2db5f9f0e6340d1f47 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003253 biolink:NamedThing cardiac neural crest cell migration involved in outflow tract morphogenesis The orderly movement of a neural crest cell from one site to another that will contribute to the morphogenesis of the outflow tract. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T02:14:16Z biological_process owl:Class GO:0046661 biolink:NamedThing male sex differentiation The establishment of the sex of a male organism by physical differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0007651 biolink:NamedThing Ectropion of lower eyelids tmpxe7fu0cj_hp_relaxed.owl Lower eyelid turned out|Lower eyelid folded out|Everted lower eyelids SNOMEDCT_US:95758006|UMLS:C0521736|UMLS:C4020808 human_phenotype owl:Class Nb9c5743a86564354a89b674cf654ba12 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0048859 biolink:NamedThing formation of anatomical boundary The process in which the limits of an anatomical structure are generated. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0000015 biolink:NamedThing non-material anatomical boundary A non-material anatomical entity of two dimensions. Anatomical boundaries are contiguous structures. tmpxe7fu0cj_hp_relaxed.owl anatomical boundary FMA:50705|AEO:0000192|CARO:0000010 Except in the case of abstracted fiat boundaries such as the midline plane of an organism, all 2D anatomical entities have a 3 dimensional projection. For example, the surface of the shell of a muscle has a distinct shape that projects into the third dimension. Note that boundaries are 2D structures. They have no thickness - and so can not be sites of gene expression or gene product localisation. For this, use boundary region terms. uberon owl:Class HP:0010916 biolink:NamedThing Abnormal circulating alanine concentration An abnormality of an alanine metabolic process. tmpxe7fu0cj_hp_relaxed.owl Abnormality of alanine metabolism UMLS:C4023654 peter 2010-12-08T08:57:53Z human_phenotype owl:Class N321ba6c0920f4f428ce130e9a8a2e6fa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001406 biolink:NamedThing binucleate A nucleate quality inhering in a bearer by virtue of the bearer's having two nuclei. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0010026 biolink:NamedThing Aplasia/Hypoplasia of the 1st metacarpal Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). tmpxe7fu0cj_hp_relaxed.owl Absent/small 1st long bone of hand|Absent/underdeveloped 1st long bone of hand UMLS:C4024098 doelkens 2009-05-27T04:24:30Z human_phenotype owl:Class N1f2ce8a320514dc6ba2d551456e54190 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:35237 biolink:NamedThing cysteine zwitterion tmpxe7fu0cj_hp_relaxed.owl cysteine zwitterion|2-ammonio-3-sulfanylpropanoate|(+)H3N-CH(CH2SH)-COO(-)|2-ammonio-3-mercaptopropanoate 0 C3H7NO2S InChI=1S/C3H7NO2S/c4-2(1-7)3(5)6/h2,7H,1,4H2,(H,5,6) XUJNEKJLAYXESH-UHFFFAOYSA-N 121.15922 121.01975 [NH3+]C(CS)C([O-])=O Gmelin:49992 chebi_ontology owl:Class CHEBI:32456 biolink:NamedThing cysteinate(1-) A sulfur-containing amino-acid anion that is the conjugate base of cysteine, obtained by deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl cysteine monoanion|cysteinate(1-)|cys(-)|2-amino-3-mercaptopropanoate|hydrogen cysteinate|2-amino-3-sulfanylpropanoate -1 C3H6NO2S InChI=1S/C3H7NO2S/c4-2(1-7)3(5)6/h2,7H,1,4H2,(H,5,6)/p-1 XUJNEKJLAYXESH-UHFFFAOYSA-M 120.15128 120.01247 NC(CS)C([O-])=O Gmelin:363235|Beilstein:4128885|Reaxys:4128885 chebi_ontology owl:Class UBERON:0002104 biolink:NamedThing visual system The sensory system subserving the sense of vision. tmpxe7fu0cj_hp_relaxed.owl visual organ system|photosensory system AAO:0000632|Wikipedia:Visual_system|SCTID:281831001|XAO:0003198|EMAPA:36003|TAO:0001127|http://uri.neuinfo.org/nif/nifstd/FMAID_7191|NCIT:C12888|BILA:0000140|ZFA:0001127|OpenCyc:Mx4rvViCtpwpEbGdrcN5Y29ycA|FMA:7191|UMLS:C0587900|MA:0002444 UBERON:0007036 uberon owl:Class The sensory system used for sight.[AAO] HP:0009224 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 4th finger A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. tmpxe7fu0cj_hp_relaxed.owl Delta-shaped epiphysis of the middle phalanx of the 4th finger|Triangular end part of the middle bone of the ring finger UMLS:C4021510 doelkens 2009-01-05T05:23:59Z human_phenotype owl:Class Nb9f8f47259ec4021bc8f5a8610d14a43 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001434 biolink:NamedThing skeletal system Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system. tmpxe7fu0cj_hp_relaxed.owl Skelettsystem|set of all bones and joints|skeleton system EHDAA2:0003168|FMA:23881|XAO:0003060|VHOG:0001254|CALOHA:TS-1320|NCIT:C12788|BTO:0001486|ZFA:0000434|TAO:0000434|EMAPA:35773|OpenCyc:Mx4rvVi1rpwpEbGdrcN5Y29ycA|EFO:0000806|MA:0000018|UMLS:C0037253|VSAO:0000027|AAO:0000566 uberon https://github.com/obophenotype/uberon/wiki/The-skeletal-system owl:Class System that provides physical support to the organism.[AAO]|Anatomical system consisting of multiple elements and tissues that provides physical support.[TAO]|Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system.[VSAO] By taking a holistic approach, integration of the evidence from molecular and developmental features of model organisms, the phylogenetic distribution in the 'new animal phylogeny' and the earliest fossilized remains of mineralized animal skeletons suggests independent origins of the skeleton at the phylum level.[debated][VHOG] skeletal GO defines skeletal system very generically: The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) GO:0001501; however, all annotations are to vertebrates N9a25841510c24f008d7428bc08f08988 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002470 biolink:NamedThing autopod region Terminal segment of free limb, immediately distal to the zeugopod region. The fully developed autopod consists of the autopod skeleton plus associated structures such as integument, muscle tissue, vasculature etc. The autopod is divided into mesopodial, metapodiual, and acropodial segments. Examples: human hand, mouse paw, human foot. tmpxe7fu0cj_hp_relaxed.owl paw/hand/foot/hoof|autopodium region|autopodial segment|paw|manus/pes|distal segment of limb|autopodial limb segment|autopodium|autopod|distal segment of free limb|distal free limb segment|pod|autopodial element EFO:0000877|MAT:0000091|UMLS:C0687080|FMA:83015|BTO:0004359|MA:0002714|MIAA:0000091|NCIT:C77660|EMAPA:32722 uberon owl:Class Naming conventions for pod terms under discussion within phenoscape group; note that this refers to the limb segment, not just the skeleton. UBERON:0004182 biolink:NamedThing mammary gland cord The solid cord of epithelial cells that emerges from the mammary bud and grows down from the primary mammary mesenchyme and into a second stromal compartment, the fat pad precursor, beneath the dermis. tmpxe7fu0cj_hp_relaxed.owl mammary sprout|mammary cord|lactiferous gland cord uberon owl:Class in female mouse embryos, the primary mammary cord (aka 'mammary sprout') is formed between E15.5 and E16.5; once the primary cord reaches the adipocytes of the fat pad (around E16), it begins to branch in a characteristic dichotomous fashion to form the initial ductal tree UBERON:0005333 biolink:NamedThing mammary bud A bulb of epithelial cells that forms from the mammary placode that develops into the mammary gland. tmpxe7fu0cj_hp_relaxed.owl milk bud|lactiferous gland bud|mammary gland bud|mammary primordium EMAPA:35536 UBERON:0004181 uberon owl:Class produced along the length of the embryonic mammary ridge these buds represent the future locations of the mammary glands. Invagination of ectoderm at each bud leads to the development of epithelial diverticula, later maturing as lactiferous ducts HP:0000847 biolink:NamedThing Abnormality of renin-angiotensin system An abnormality of the renin-angiotensin system. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the renin-aldosterone axis UMLS:C4021793 The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance. HP:0003350 human_phenotype owl:Class N44241fa9a4154124a4be635dc7e21dec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021564 biolink:NamedThing vagus nerve development The process whose specific outcome is the progression of the vagus nerve over time, from its formation to the mature structure. This nerve is primarily sensory but also has visceromotor components. It originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components. It controls some motor functions such as speech. The sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis. tmpxe7fu0cj_hp_relaxed.owl cranial nerve 10 development|cranial nerve X development|CN X development biological_process owl:Class PATO:0002422 biolink:NamedThing acinar Pertaining to the individual parts making up an aggregate fruit like a many-lobed "berry," such as a raspberry. tmpxe7fu0cj_hp_relaxed.owl Acinus is Latin for berry. 2012-12-17T03:11:10Z quality owl:Class HP:0006442 biolink:NamedThing Hypoplasia of proximal fibula Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee. tmpxe7fu0cj_hp_relaxed.owl Small innermost upper end of calf bone|Underdeveloped innermost upper end of calf bone UMLS:C1859478 human_phenotype owl:Class N81813a4060ec4302bc90ec4082b276e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001103 biolink:NamedThing diaphragm A thin musculomebranous barrier that separates the abdominal and thoracic cavities. Often used for breathing control. tmpxe7fu0cj_hp_relaxed.owl diaphragm of thorax|thoracic diaphragm|midriff|phren|diaphragm muscle GAID:158|UMLS:C0011980|EFO:0000937|EV:0100376|Wikipedia:Thoracid_diaphragm|EMAPA:17701|BTO:0000341|SCTID:181614006|VHOG:0000713|MA:0001904|CALOHA:TS-0198|MESH:D003964|EHDAA2:0003495|NCIT:C12702|OpenCyc:Mx4rvVivz5wpEbGdrcN5Y29ycA|FMA:13295|MAT:0000502 uberon owl:Class The diaphragm is a skeletal muscle that is responsible for contraction and expansion of the lungs[GO]. The mammals are characterized by a diaphragm, which separates the thoracic portion of the body cavity from the abdominal region and assists in drawing air into the lungs and forcing it out. Modern reptiles lack a muscular diaphragm and it is reasonable to suppose that the diaphragm developed as a new device that made possible a large degree of oxygen intake for active animals. The change may have taken place during the transition from reptile to mammal (...).[well established][VHOG] phrenic The urochordate epicardium separates digestive organs from the pharynx and heart, but the anus returns to the upper compartment to discharge wastes through an outgoing siphon (Thoracic_diaphragm#Comparative_anatomy_and_evolution)|The existence of some membrane separating the pharynx from the stomach can be traced widely among the chordates. Thus amphioxus possesses an atrium by which water exits the pharynx, which has been argued (and disputed) to be homologous to structures in ascidians and hagfishes.[3] breathing control|barrier between thoracic and abdominal cavities; stop gastric contents from refluxing into the oesophagus originate from the cervical somites, likely C3-C5[PMID:23586979] UBERON:0002199 biolink:NamedThing integument The dermis, epidermis and hypodermis. tmpxe7fu0cj_hp_relaxed.owl dermal system|dermoid system|skin|the integument|dermis plus epidermis plus hypodermis|vertebrate integument|tegument|skin plus hypodermis|integumentum commune|skin and subcutaneous tissue EMAPA:37504|Wikipedia:Integument|FMA:74657|AAO:0000239|galen:Integument|BTO:0000634|ZFA:0000368|VSAO:0000029|TAO:0000368 in FMA intergument = skin+superficial fascia(hypodermis), skin=dermis+epidermis+hair_nail. Note that the definition provided here excludes the more general sense of the term 'integument' used in invertebrates; consider 'integumental system'. Note that the VSAO class appears to include adnexa by its definition. uberon owl:Class The outer protective barrier that separates the animal from its aquatic environment. Le Guellec et al, 2004.[TAO]|Anatomical system that protects the body from damage, comprising the skin and its appendages.[AAO]|Surface structure that is the outer protective covering of the body.[VSAO] integumentary|integumental UBERON:0001676 biolink:NamedThing occipital bone The bone at the lower, posterior part of the skull. tmpxe7fu0cj_hp_relaxed.owl occipital complex|os occipitale|occipital squama Wikipedia:Occipital_bone|NCIT:C12757|MESH:D009777|OpenCyc:Mx4rwQtsiZwpEbGdrcN5Y29ycA|FMA:52735|UMLS:C0028784|MA:0001468|GAID:227|SCTID:181796003|EMAPA:25112 http://upload.wikimedia.org/wikipedia/commons/2/27/Gray194.png uberon owl:Class formed from the sclerotome of the occipital somites. It is not present in living or fossil agnathans or cartilaginous fishes, but appears to have arisen in parallel in many bony fishes. Incorporation of the occipital ver- tebrae into the skull was associated with the annexation of the upper part of the spinal cord into the brain, together with the first 2 spinal nerves as cranial nerves XI and XII|fusion of basi-, exo- and supra-occipitals (and maybe tabular) UBERON:0003113 biolink:NamedThing dermatocranium Subdivision of skeleton that includes all dermal bones in the cranial skeleton[ZFA,modified]. tmpxe7fu0cj_hp_relaxed.owl exocranium|roofing bones of the skull|skull exoskeleton|dermal skull roof|skull roof|dermal skull bones|dermal bone cranium|dermatocranial cover|roof of skull|dendrocranium|dermal part of skull XAO:0003169|TAO:0000863|AAO:0010154|Wikipedia:Skull_roof|VHOG:0001665|ZFA:0000863 wikipedia treats skull roof and dermatocranium as synonymous, but some sources treat the roof as being part of the dermatocranium - see UBERONREF:0000007 uberon owl:Class Anatomical cluster that is part of the cranium which consists of dermally derived bones.[AAO]|Anatomical cluster that is part of the cranium and composed of dermally derived bones.[TAO] UBERON:0010252 biolink:NamedThing 1st arch mandibular mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 1st arch mandibular mesenchyme. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000037 uberon owl:Class UBERON:0001269 biolink:NamedThing acetabular part of hip bone The acetabulum is a concave surface of the pelvis. The head of the femur meets with the pelvis at the acetabulum, forming the hip joint. There are three bones of the os coxae (hip bone) that come together to form the acetabulum. Contributing a little more than two-fifths of the structure is the ischium, which provides lower and side boundaries to the acetabulum. The ilium forms the upper boundary, providing a little less than two-fifths of the structure of the acetabulum. The rest is formed by the pubis, near the midline. It is bounded by a prominent uneven rim, which is thick and strong above, and serves for the attachment of the acetabular labrum, which reduces its opening, and deepens the surface for formation of the hip joint. At the lower part of the acetabulum is the acetabular notch, which is continuous with a circular depression, the acetabular fossa, at the bottom of the cavity of the acetabulum. The rest of the acetabulum is formed by a curved, crescent-moon shaped surface, the lunate surface, where the joint is made with the head of the femur. Its counterpart in the pectoral girdle is the glenoid fossa.[WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl acetabulum|acetabular region VHOG:0000974|FMA:16579|MA:0001335|EMAPA:18346|EHDAA:10661|RETIRED_EHDAA2:0001427|AAO:0000770|GAID:206|MESH:A02.835.232.611.108|NCIT:C32042|UMLS:C0000962|OpenCyc:Mx4rwJlP9ZwpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/2/29/Illu_pelvic_girdle.jpg uberon owl:Class Cavity for the articulation of the proximal bone of the hind limb.[AAO] During the transformation from the osteolepiform fins to tetrapod limbs, the appendages and girdles underwent a number of radical changes. The pelvic girdle became a weight-bearing structure by evolution of an ischium, a full mesio-ventral contact between the two sides of the girdle, an ilium, and a contact between the vertebral column and the girdle through a sacral rib. Fore- and hindlimbs shifted laterally by reorientation of the glenoid and the acetabulum.[well established][VHOG] In reptiles and in birds, the acetabula are deep sockets. whilst WP defines this as a surface, MA treats it as a bone. There are other FMA classes that may be better suited to representing the surface. UBERON:0004916 biolink:NamedThing anal sphincter A sphincter muscle that is part of a anal region. tmpxe7fu0cj_hp_relaxed.owl anal region sphincter|sphincter analia EMAPA:36052 uberon owl:Class UBERON:0001353 biolink:NamedThing anal region The anus and surrounding regions. Encompasses both internal and external regions, where present. tmpxe7fu0cj_hp_relaxed.owl posterior end of organism|posterior MIAA:0000042|WBbt:0006919|MAT:0000042|MA:0000329|EHDAA2:0000122|EFO:0000847|UMLS:C0230120|VHOG:0000395|NCIT:C32069|EMAPA:16831|EHDAA:2931 http://upload.wikimedia.org/wikipedia/commons/f/fb/Gray408.png uberon https://github.com/obophenotype/uberon/issues/507 owl:Class Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] UBERON:0004707 biolink:NamedThing pharyngula stage A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities. tmpxe7fu0cj_hp_relaxed.owl pharyngula|phylotypic stage EFO:0001310|ZFS:0000050|DrerDO:0000052|OGES:000006 uberon owl:Class Corresponds to E7-E11 in Mouse (Galis et al, TREE, 2001) NCBITaxon:6072 biolink:NamedThing Eumetazoa tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001165 biolink:NamedThing pyloric antrum The area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells. tmpxe7fu0cj_hp_relaxed.owl antrum of stomach|antrum|stomach antrum|gastric antrum|antrum pylori|antrum pyloricum|antrum of Willis|stomach pyloric antrum EMAPA:17891|GAID:332|MA:0001624|FMA:14579|NCIT:C12259|UMLS:C0034193|MESH:A03.492.766.716|BTO:0001732|EFO:0002555|galen:PyloricAntrum http://upload.wikimedia.org/wikipedia/commons/3/31/Gray1046.svg uberon owl:Class UBERON:0001161 biolink:NamedThing body of stomach The body of stomach is the part of the stomach that lies between the fundus above and the pyloric antrum below; its boundaries are poorly defined[GO]. tmpxe7fu0cj_hp_relaxed.owl corpus gastricum (ventriculare)|corpus ventriculi|gastric corpus|gastric body|corpus ventriculare|stomach body|corpus gastricum EMAPA:35810|NCIT:C12258|UMLS:C0227230|BTO:0000505|FMA:14560|MA:0002559|galen:GastricCorpus http://upload.wikimedia.org/wikipedia/commons/3/31/Gray1046.svg we include this as zone of stomach even though it is not distinguished by gland type uberon owl:Class UBERON:0003064 biolink:NamedThing intermediate mesoderm The intermediate mesoderm is located between the lateral mesoderm and the paraxial mesoderm. It develops into the kidney and gonads. tmpxe7fu0cj_hp_relaxed.owl IM|intermediate mesenchyme|intermediate plate|intermediate plate mesoderm|mesenchyma intermedium EMAPA:16056|SCTID:361476001|VHOG:0000087|AAO:0010575|EMAPA:16178|XAO:0000085|Wikipedia:Intermediate_mesoderm|FMA:293147|TAO:0001206|UMLS:C1284010|ZFA:0001206|NCIT:C34193 http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png uberon owl:Class Mesoderm between somite and lateral plate. Traditionally thought to give rise to the urogenital system.[AAO] (...)the mesoderm of a developing vertebrate transitionally differentiates into the following sub-types: Chordamesoderm (also known as axial mesoderm) which later on gives rise to notochord in all chordates, Paraxial mesoderm, Intermediate mesoderm, Lateral plate mesoderm (reference 1); The mesoderm is present in Bilateria, therefore they are sometimes called triploblasts. Ectoderm and endoderm are usually organized as epithelial layers, while mesoderm can be epithelial or a compact, three-dimensional tissue.[well established][VHOG] all AOs differ in the relationship between this structure and the mesoderm; in ZFA it is a subclass (and this is implied by the GO definition and GO relationships), in AAO it is part of, and in EHDAA2 it develops from the mesoderm (but in EHDAA2 the naming convention is to use 'paraxial mesenchyme', rather than 'paraxial mesoderm'). HP:0005336 biolink:NamedThing Forehead hyperpigmentation tmpxe7fu0cj_hp_relaxed.owl Darkening of the forehead UMLS:C1969673 human_phenotype owl:Class Nadb1aa7a74194817a032e1db837eced9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0c169b8faaa64b01bc0704edcb7b9c4f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N91c5dffaee3843e5bf6695260e7c424d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0002544 biolink:NamedThing chronic inflammatory response Inflammation of prolonged duration (weeks or months) in which active inflammation, tissue destruction, and attempts at repair are proceeding simultaneously. Although it may follow acute inflammation, chronic inflammation frequently begins insidiously, as a low-grade, smoldering, often asymptomatic response. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0060931 biolink:NamedThing sinoatrial node cell development The process whose specific outcome is the progression of a sinoatrial (SA) node cell over time, from its formation to the mature state. SA node cells are pacemaker cells that are found in the sinoatrial node. tmpxe7fu0cj_hp_relaxed.owl sinus node cell development|SA node cell development|SAN cell development dph 2009-09-29T12:05:47Z biological_process owl:Class UBERON:0003110 biolink:NamedThing otic region tmpxe7fu0cj_hp_relaxed.owl cranial vault XAO:0003175|AAO:0010208|ZFA:0000189|TAO:0000189 uberon owl:Class Anatomical cluster that is a posterolateral part of the neurocranium and structurally supports the vestibuloauditory system.[AAO]|Anatomical cluster that is a posterolateral part of the cranium and structurally supports the vestibuloauditory system.[TAO] relationship loss: overlaps hyomandibular-otic region joint (TAO:0001947)[TAO] UBERONREF:0000007 has this as a syn for otic capsule GO:0014028 biolink:NamedThing notochord formation The formation of the notochord from the chordamesoderm. The notochord is composed of large cells packed within a firm connective tissue sheath and is found in all chordates at the ventral surface of the neural tube. In vertebrates, the notochord contributes to the vertebral column. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0048570 biolink:NamedThing notochord morphogenesis The process in which the anatomical structures of the notochord are generated and organized. The notochord is a mesoderm-derived structure located ventral of the developing nerve cord. In vertebrates, the notochord serves as a core around which other mesodermal cells form the vertebrae. In the most primitive chordates, which lack vertebrae, the notochord persists as a substitute for a vertebral column. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N7970a3c4b4c14ee4ab11cfe7baf00ecd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9523754f761541bdb7bfba2023c897b0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006875 biolink:NamedThing embryonic handplate The distal elements of the developing limb of vertebrates that will give rise to the manus (hand). tmpxe7fu0cj_hp_relaxed.owl distal part of forelimb bud|handplate|hand plate UMLS:C1512334|EMAPA:17245|NCIT:C34185|EHDAA:4194|FMA:296794|EHDAA:6242 uberon owl:Class UBERON:0005417 biolink:NamedThing forelimb bud A limb bud that develops into a forelimb. tmpxe7fu0cj_hp_relaxed.owl wing bud|arm bud|anterior limb bud|upper limb bud|limb bud - forelimb MIAA:0000065|XAO:0003065|AAO:0010381|RETIRED_EHDAA2:0003198|FMA:296782|BTO:0001645|EHDAA:1699|EMAPA:16406 Genes: Tbx5 specifies forelimbs. Wnt2b restricts Fgf10 in chick // In tetrapods, the position of the forelimb is associated with the anterior expression border of Hoxc6 in the paraxial mesoderm (Burke et al., 1995) uberon owl:Class NCBITaxon:7711 biolink:NamedThing Chordata tmpxe7fu0cj_hp_relaxed.owl chordates GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004873 biolink:NamedThing splanchnopleure A structure created during embryogenesis when the lateral mesoderm splits into two layers - the inner (or splanchnic) layer adheres to the endoderm, and with it forms the splanchnopleure[WP]. tmpxe7fu0cj_hp_relaxed.owl ventral splanchnic mesoderm EHDAA2:0001903|Wikipedia:Splanchnopleure|EMAPA:16181|UMLS:C1519472|VHOG:0000558|NCIT:C34303|FMA:295564|EHDAA:383 http://upload.wikimedia.org/wikipedia/commons/2/28/Gray16.png TODO - check relationship to LPM uberon owl:Class UBERON:0011321 biolink:NamedThing masseteric nerve A muscular branch of the mandibular nerve passing to the medial surface of the masseter muscle, which it innervates. tmpxe7fu0cj_hp_relaxed.owl nervus massetericus FMA:53103 uberon owl:Class UBERON:0001987 biolink:NamedThing placenta Organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell. tmpxe7fu0cj_hp_relaxed.owl allantoic placenta|eutherian placenta MIAA:0000279|FMA:63934|EV:0100119|EMAPA:35689|OpenCyc:Mx4rvv4zZ5wpEbGdrcN5Y29ycA|UMLS:C0032043|GAID:379|EFO:0001407|MAT:0000279|MESH:A16.759|NCIT:C13272|MA:0000386|CALOHA:TS-0799|BTO:0001078|VHOG:0001266 Marsupials possess only a rudimentary yolk-type placenta, with reduced nutrient and oxygen exchanging capabilities. http://upload.wikimedia.org/wikipedia/commons/6/66/Placenta.jpg|http://upload.wikimedia.org/wikipedia/commons/f/f1/Placenta.svg uberon owl:Class Phylogenetic analyses of the concatenated data set using maximum parsimony, maximum likelihood and distance based (neighbour joining) methods all converged on a nearly identical, well supported topology defining four principal eutherian lineages. The results affirm monophyly of traditional placental orders (except Artiodactyla and Insectivora), and also support some previously proposed, as well as new, superordinal clades.[well established][VHOG] placental Eutherians: In eutherians, the chorioallantoic membrane of the fetus establishes intimate contact with the adjacent vascular wall of the mother's uterus to produce the placenta, a composite structure formed in part from tissues of the fetus and in part from tissues of the mother [ISBN:0073040584 (Vertebrates, Kardong)]. TODO - is taxon restriction too strict, even if we restrict def to allantoic placenta? - WP says: also found in some snakes and lizards with varying levels of development up to mammalian levels. Pough et al. 1992. Herpetology: Third Edition. Pearson Prentice Hall:Pearson Education, Inc., 2002. // See also: DOI:10.1002/jmor.11011 UBERON:0004340 biolink:NamedThing allantois A membranous sac that develops from the posterior part of the alimentary canal in the embryos of mammals, birds, and reptiles, and it is important in the formation of the umbilical cord and placenta in mammals[VHOG]. tmpxe7fu0cj_hp_relaxed.owl allantoic bud MESH:A16.254.403.147|BTO:0000474|RETIRED_EHDAA2:0000114|EMAPA:16107|UMLS:C0002084|NCIT:C34101|VHOG:0000738|EMAPA_RETIRED:16084|EHDAA2:0001504 http://upload.wikimedia.org/wikipedia/commons/a/a5/Gray25.png uberon owl:Class A membranous sac that develops from the posterior part of the alimentary canal in the embryos of mammals, birds, and reptiles, and it is important in the formation of the umbilical cord and placenta in mammals. [TFD][VHOG] Structures homologous to the four extraembryonic membranes of reptiles and birds appear in mammals: amnion, chorion, yolk sac, and allantois.[well established][VHOG] allantoic a diverticulum of the hindgut endoderm [ISBN:0073040584 (Vertebrates, Kardong)] part_of embryo in EHDAA2 - note differences in humans HP:0012878 biolink:NamedThing Retarded ejaculation Difficulty of a male in achieving orgasm. tmpxe7fu0cj_hp_relaxed.owl Delayed ejaculation UMLS:C0234047|SNOMEDCT_US:15405008 hecht 2014-06-09T11:29:28Z human_phenotype owl:Class N033802d657df4bc98e1407b98141b829 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002808 biolink:NamedThing left temporal lobe A temporal lobe that is part of a left cerebral hemisphere. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1281971|BIRNLEX:1784|FMA:72972|OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rwQLi-ZwpEbGdrcN5Y29ycA uberon owl:Class UBERON:0002812 biolink:NamedThing left cerebral hemisphere A cerebral hemisphere that is in the left side of a brain. tmpxe7fu0cj_hp_relaxed.owl left hemisphere NCIT:C32955|UMLS:C0228176|SCTID:362323007|BIRNLEX:1795|FMA:61819 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0008837 biolink:NamedThing palmar/plantar part of autopod tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0011015 biolink:NamedThing Abnormal blood glucose concentration An abnormality of the concentration of glucose in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormality of blood glucose concentration UMLS:C4023597 peter 2011-02-21T10:41:13Z human_phenotype owl:Class N16723e58404845fdaa5a27ba8098e28d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000056 biolink:NamedThing ureter Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. tmpxe7fu0cj_hp_relaxed.owl metanephric duct XAO:0000144|galen:Ureter|EHDAA2:0002139|CALOHA:TS-1084|GAID:438|MIAA:0000120|MA:0000378|MESH:D014513|NCIT:C12416|VHOG:0000605|EHDAA:9341|MAT:0000120|EV:0100097|OpenCyc:Mx4rvhmm6JwpEbGdrcN5Y29ycA|AAO:0010254|EMAPA:17950|FMA:9704|BTO:0001409|UMLS:C0041951|EFO:0000930 Urinary:system.svg uberon owl:Class The duct of amniotes that carries urine from a metanephric kidney to the urinary bladder. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]|Anatomical structure consisting of long narrow duct which carries urine from the kidney to the urinary bladder.[AAO] The first embryonic hint of a metanephros is the formation of the metanephric duct that appears as a ureteric diverticulum arising at the base of preexisting mesonephric duct. The ureteric diverticulum grows dorsally into the posterior region of the nephric ridge. Here it enlarges and stimulates the growth of metanephric tubules that come to make up the metanephric kidney. The metanephros becomes the adult kidney of amniotes, and the metanephric duct is usually called the ureter.[well established][VHOG] ureteral|ureteric in humans, consists of adventitial, muscular and mucoa layers UBERON:0001246 biolink:NamedThing interlobular bile duct The canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad. tmpxe7fu0cj_hp_relaxed.owl interlobular ductule UMLS:C0227515|FMA:15767|NCIT:C32827|MA:0002668 uberon owl:Class UBERON:0014719 biolink:NamedThing intralobular duct A duct that is located within a lobule, with no more connective tissue intervening between ducts and secretory units (i.e., acini or tubules) than between adjacent secretory units. Intercalated and striated ducts are intralobular. tmpxe7fu0cj_hp_relaxed.owl intralobular ductule uberon owl:Class UBERON:0012650 biolink:NamedThing gastroduodenal junction An anatomical junction that connects a stomach and connects a duodenum. tmpxe7fu0cj_hp_relaxed.owl FMA:17046 uberon owl:Class PATO:0001393 biolink:NamedThing euploid A ploidy quality inhering in a bearer by virtue of the bearer's containing an integral multiple of the monoploid number, possibly excluding the sex-determining chromosomes. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class UBERON:0001041 biolink:NamedThing foregut Anterior subdivision of a digestive tract. tmpxe7fu0cj_hp_relaxed.owl praeenteron|proenteron FMA:45616|FBbt:00005379|EHDAA:520|MA:0001526|SCTID:361409009|EHDAA2:0000557|BTO:0000507|XAO:0000232|NCIT:C34180|EMAPA:16548|Wikipedia:Foregut|VHOG:0000285|TGMA:0001014|UMLS:C0231051|AAO:0011042|BILA:0000085 http://upload.wikimedia.org/wikipedia/commons/9/9a/Gray27.png Note we define this generically to include invertebrates (partly for consistency with GO), but the class may be split in future. In vertebrates the term may refer to a developmental structure uberon owl:Class The anterior portion of the primitive digestive tube of the embryo that lies cephalic to the junction of the yolk stalk, consists of endodermal tissue, and gives rise to the the pharynx, lower respiratory system, esophagus, stomach, duodenum proximal to the biliary tract, liver, pancreas, biliary tract, and gall bladder. The bilaterian gut is typically a complete tube that opens to the exterior at both ends. It consists of mouth, foregut, midgut, hindgut, and anus (reference 1); Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut (reference 2).[well established][VHOG] UBERON:0001365 biolink:NamedThing sacro-iliac joint The joint in the bony pelvis between the sacrum and the ilium of the pelvis, which are joined by strong ligaments. tmpxe7fu0cj_hp_relaxed.owl articulatio sacro-iliaca|sacroiliac joint NCIT:C33507|MA:0001506|MESH:D012446|FMA:21440|EMAPA:19300|GAID:268|UMLS:C0036036 http://upload.wikimedia.org/wikipedia/commons/5/5f/Gray319.png uberon owl:Class In humans, the sacrum supports the spine and is supported in turn by an ilium on each side N59fd63a7e20d410ba620f2903a8abf3b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003407 biolink:NamedThing neural retina development The progression of the neural retina over time from its initial formation to the mature structure. The neural retina is the part of the retina that contains neurons and photoreceptor cells. tmpxe7fu0cj_hp_relaxed.owl dph 2009-12-21T02:15:14Z biological_process owl:Class HP:0009649 biolink:NamedThing Aplasia of the distal phalanx of the thumb Absence of the distal/terminal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Absent ossification/absent terminal thumb phalanx|Aplasia of the outermost bone of the thumb|Absence of the outermost bone of the thumb UMLS:C4021416 doelkens 2009-01-29T05:22:06Z HP:0004082 human_phenotype owl:Class N3c61f9132b6849c4a304d927636ee86d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009617 biolink:NamedThing head paraxial mesoderm Bilateral mesenchymal mesoderm parallel and immediately adjacent to the neural tube/notochord; it generates a subset of extra-ocular, and other head, muscles. tmpxe7fu0cj_hp_relaxed.owl somitomeric mesoderm|cephalic paraxial mesenchyme|cranial paraxial mesoderm|cephalic paraxial mesoderm|head paraxial mesenchyme|somitomere|cranial paraxial mesenchyme EHDAA:364|EHDAA2:0000736|EMAPA:16171 uberon owl:Class A major contributor to neurocranium [PMID:16313393] GO:0042301 biolink:NamedThing phosphate ion binding Binding to a phosphate ion. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class UBERON:0034728 biolink:NamedThing autonomic nerve The autonomic nerve is a small nerve which carries postganglionic sympathetic and parasympathetic neurons from the zygomaticotemporal nerve; a branch of the maxillary nerve, to the lacrimal nerve; a branch of the ophthalmic nerve. These neurons derive from the superior cervical ganglion and the pterygopalatine ganglion respectively. They will travel to the lacrimal gland via the lacrimal nerve. Parasympathetic will induce lacrimation and vice versa. tmpxe7fu0cj_hp_relaxed.owl nervus visceralis|visceral nerve MESH:D017776|FMA:5866|EMAPA:37957|SCTID:276145003|Wikipedia:Autonomic_nerve uberon owl:Class N4494b09de8bc44b48e963baaad92333c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011576 biolink:NamedThing supraorbital ridge The superior half of the orbital rim, which constitutes the curved superior border of the orbital opening, formed by the frontal bone. tmpxe7fu0cj_hp_relaxed.owl superior orbital rim|eyebrow bone|supraorbital margin|superciliary ridge|orbital ridge|supraorbital torus|supra-orbital margin|supra-orbital ridge|supraorbital margin of frontal bone|supra-orbital margin of frontal bone|margo supraorbitalis (os frontale)|frontal torus|supraorbital arch|supraorbital surface of frontal bone|margo supraorbitalis|margin of the orbit|arcus superciliaris|supra-orbital border of frontal bone NCIT:C82953|UMLS:C2826587|FMA:317104 uberon owl:Class Neanderthals have a Supraorbital torus, a prominent, trabecular (spongy) brow ridge. see also: 'supraorbital flange'. FMA has 2 related classes, but these refer to the line and surface UBERON:0035849 biolink:NamedThing orbital margin The mostly sharp edge of the orbital opening that is the peripheral border of the base of the pyramidal orbit. tmpxe7fu0cj_hp_relaxed.owl margo orbitalis|margin of orbit|orbital rim FMA:53176 uberon owl:Class HP:0002056 biolink:NamedThing Abnormality of the glabella An abnormality of the glabella. tmpxe7fu0cj_hp_relaxed.owl Deformity of the area between the eyebrows|Abnormality of the area between the eyebrows|Malformation of the area between the eyebrows|Glabellar abnormality UMLS:C4021763 human_phenotype owl:Class Nd6eb0ff4551a462f965ff0218551e081 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:2001017 biolink:NamedThing regulation of retrograde axon cargo transport Any process that modulates the frequency, rate or extent of retrograde axon cargo transport. tmpxe7fu0cj_hp_relaxed.owl regulation of retrograde axonal transport kmv 2011-08-11T09:44:42Z biological_process owl:Class GO:0008090 biolink:NamedThing retrograde axonal transport The directed movement of organelles or molecules along microtubules from the cell periphery toward the cell body in nerve cell axons. tmpxe7fu0cj_hp_relaxed.owl retrograde axon cargo transport biological_process owl:Class UBERON:0010801 biolink:NamedThing calcaneum pre-cartilage condensation A calcaneum endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl calcaneous pre-cartilage condensation EMAPA:17736 uberon owl:Class UBERON:0009879 biolink:NamedThing tarsal skeleton Subdivision of skeleton that consists of endochondral elements distal to the zeugopodial skeletal elements which constitute the proximal region of the posterior autopod skeleton[PHENOSCAPE:ad]. tmpxe7fu0cj_hp_relaxed.owl tarsal bones set|skeletal parts of hind mesopodium|tarsal bones|tarsalia|set of tarsal bones|basipodium|tarsus|hind mesopodial skeleton|hind mesopodium|mesopodium|hind mesopodium skeleton FMA:71339|GAID:1223|AAO:0000220|MA:0000050|VHOG:0001160|EMAPA:19133|XAO:0003211|VSAO:0005024 uberon owl:Class Segment of the leg corresponding to the tarsus. It consists of several elements that articulate with the tibia and fibula at one end and the metatarsals at the other end.[AAO] The three main outgroup taxa of tetrapods, panderichthyids, osteolepiforms, and rhizodontids, have endoskeletal elements corresponding to the stylo- and zeugopodial elements in a tetrapod limb. In addition, there are elements that share the position and possibly the developmental derivation of the ulnare and the intermedium. From these observations, most authors have concluded that the stylo- and zeugopodial elements as well as the proximal mesopodial elements have counterparts in the fins of tetrapod ancestors, but there are no indications of wrist or ankle joints.[well established][VHOG] Not always associated with digits, in sarcopterygians the ulnare is present without true digits being formed, though their homologous radial elements are present we assume MA:tarsus belongs here, as there is a distinct class MA:ankle, with the tarsal bone being part of the former. XAO:tarsus is part of the hindlimb skeleton. FMA set-of class lacks definition but we assume this to be equivalent. GO:0097084 biolink:NamedThing vascular associated smooth muscle cell development The process aimed at the progression of a vascular smooth muscle cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. A vascular smooth muscle cell is a non-striated, elongated, spindle-shaped cell found lining the blood vessels. tmpxe7fu0cj_hp_relaxed.owl vascular smooth muscle cell development pr 2011-06-20T04:03:08Z biological_process owl:Class Ne0724978b23c472c9b238406a85609df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:25805 biolink:NamedThing oxygen atom tmpxe7fu0cj_hp_relaxed.owl oxygen|oxygene|8O|Sauerstoff|oxigeno|O 0 O InChI=1S/O QVGXLLKOCUKJST-UHFFFAOYSA-N 15.99940 15.99491 [O] KEGG:C00007|WebElements:O chebi_ontology owl:Class HP:0009559 biolink:NamedThing Bullet-shaped distal phalanx of the 2nd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped outermost bone of the index finger UMLS:C4024292 doelkens 2009-01-28T04:16:02Z human_phenotype owl:Class N2f3de92c6ab34c0ca08b3c4fcf631649 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndb656f0fd4bc409f9829c68618242fcf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030871 biolink:NamedThing Facet joint arthrosis Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray. tmpxe7fu0cj_hp_relaxed.owl Facet arthritis UMLS:C4280734 Facet joint osteoarthritis (FJ OA) is intimately linked to degenerative disc disease, which affects structures in the anterior aspect of the vertebral column. FJ OA and degenerative disc disease are both common causes of back and neck pain. owl:Class Ne9250dfb65da407a81b605afbc0c22bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003822 biolink:NamedThing forelimb stylopod The part of the forelimb between pectoral region and the elbow, corresponding to the humerus. tmpxe7fu0cj_hp_relaxed.owl regio brachialis|forelimb propodium|brachium|stylopod of arm|proximal segment of free upper limb|fore propodium|wing stylopod|arm|forelimb stylopodial element|brachial region|stylopod of forelimb|upper arm|forelimb stylopodium NCIT:C32141|VHOG:0000343|EHDAA2:0002112|EHDAA:6234|AAO:0000199|EMAPA:17424|MA:0000035|FMA:24890|MESH:D001132|OpenCyc:Mx4rvVj0Z5wpEbGdrcN5Y29ycA|galen:Arm|UMLS:C0446516|EHDAA:4186|VSAO:0005057 uberon owl:Class Segment of the hindleg corresponding to the humerus.[AAO] Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] anatomical usage, the term arm refers specifically to the segment between the shoulder and the elbow, while the segment between the elbow and wrist is the forearm. However, in common, literary, and historical usage, arm refers to the entire upper limb from shoulder to wrist. FMA uses the term Arm for this class, so we place it here. Naming conventions for pod terms under discussion within phenoscape group. UBERON:0001460 biolink:NamedThing arm The part of the forelimb extending from the shoulder to the autopod[cjm]. tmpxe7fu0cj_hp_relaxed.owl upper extremity|brachium EHDAA:8275|MESH:D001132|BTO:0001435|VHOG:0000339|EHDAA:6210|EFO:0001410|EMAPA:17413|OpenCyc:Mx4rvVjp5ZwpEbGdrcN5Y29ycA|MA:0000033|GAID:52|EHDAA:4164|CALOHA:TS-2204|EHDAA2:0000140|MESH:A01.378.800 this class refers to the combination of the stylopod and zeugopod of a forelimb. Sometimes (cf FMA), 'arm' denotes the stylopod only; sometimes (cf MA), 'arm' denotes the part of the forelimb covering both (i.e. shoulder to hand). Also note distinction between arm and forelimb: hand is part of forelimb, but not part of arm http://upload.wikimedia.org/wikipedia/commons/e/ee/Upperarm.jpg currently declared as overlapping hand, as AOs disagree over whether some wrist parts are in the arm or hand uberon owl:Class Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] NCBITaxon:40674 biolink:NamedThing Mammalia tmpxe7fu0cj_hp_relaxed.owl mammals|mammal-|mammal GC_ID:1 ncbi_taxonomy owl:Class UBERON:0035053 biolink:NamedThing interlobular duct of salivary gland tmpxe7fu0cj_hp_relaxed.owl FMA:60053 uberon owl:Class HP:0006959 biolink:NamedThing Proximal spinal muscular atrophy Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024957 human_phenotype owl:Class Nbadb5d65ec3a495b93891f775ec4bf4f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:29985 biolink:NamedThing L-glutamate(1-) An alpha-amino-acid anion that is the conjugate base of L-glutamic acid, having anionic carboxy groups and a cationic amino group tmpxe7fu0cj_hp_relaxed.owl hydrogen L-glutamate|L-glutamate(1-)|(2S)-2-ammoniopentanedioate|L-glutamate|L-glutamic acid, ion(1-)|L-glutamic acid monoanion -1 C5H8NO4 InChI=1S/C5H9NO4/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H,7,8)(H,9,10)/p-1/t3-/m0/s1 WHUUTDBJXJRKMK-VKHMYHEASA-M 146.12136 146.04588 [NH3+][C@@H](CCC([O-])=O)C([O-])=O CAS:11070-68-1|Gmelin:936654|MetaCyc:GLT CHEBI:21301|CHEBI:13107 chebi_ontology owl:Class CHEBI:24319 biolink:NamedThing EC 6.3.1.2 (glutamate--ammonia ligase) inhibitor An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of glutamate--ammonia ligase (EC 6.3.1.2). tmpxe7fu0cj_hp_relaxed.owl EC 6.3.1.2 inhibitor|glutamate--ammonia ligase (EC 6.3.1.2) inhibitors|glutamine synthetase inhibitor|glutamine synthetase inhibitors|EC 6.3.1.2 inhibitors|glutamate--ammonia ligase inhibitor|glutamate--ammonia ligase (EC 6.3.1.2) inhibitor|L-glutamine synthetase inhibitors|glutamate--ammonia ligase inhibitors|EC 6.3.1.2 (glutamate--ammonia ligase) inhibitors|glutamylhydroxamic synthetase inhibitors|L-glutamate:ammonia ligase (ADP-forming) inhibitor|L-glutamine synthetase inhibitor|glutamylhydroxamic synthetase inhibitor|L-glutamate:ammonia ligase (ADP-forming) inhibitors Wikipedia:Glutamine_synthetase chebi_ontology owl:Class UBERON:0034729 biolink:NamedThing sympathetic nerve tmpxe7fu0cj_hp_relaxed.owl EMAPA:37958|SCTID:181098007 uberon owl:Class UBERON:0001806 biolink:NamedThing sympathetic ganglion A ganglion of the sympathetic nervous system. Examples: paravertebral and the prevertebral ganglia, which include the sympathetic chain ganglia, the superior, middle, and inferior cervical ganglia, and the aorticorenal, celiac, and stellate ganglia. tmpxe7fu0cj_hp_relaxed.owl ganglion of sympathetic nervous system|sympathetic nervous system ganglion|ganglion sympathicum|sympathetic part of autonomic division of nervous system ganglion|ganglion of sympathetic part of autonomic division of nervous system|ganglion sympatheticum SCTID:362485003|NCIT:C12467|AAO:0010773|EMAPA:17157|CALOHA:TS-0994|EHDAA2:0001969|MA:0000226|UMLS:C0017071|BTO:0001333|Wikipedia:Sympathetic_ganglion|FMA:5890 http://upload.wikimedia.org/wikipedia/commons/f/f7/Gray839.png uberon owl:Class UBERON:0000079 biolink:NamedThing male reproductive system The organs associated with producing offspring in the gender that produces spermatozoa. tmpxe7fu0cj_hp_relaxed.owl male reproductive tract|male genitalia|male genitals|male genital system|reproductive system of male organism|male organism reproductive system|genitalia of male organism|male organism genitalia|systema genitale masculinum|male genital tract|male genital organ XAO:0000155|EMAPA:17968|TGMA:0000634|OpenCyc:Mx4rvViCepwpEbGdrcN5Y29ycA|EHDAA2:0001054|MESH:D005837|EFO:0000970|FMA:45664|CALOHA:TS-1310|UMLS:C1963704|GAID:386|EV:0100101|NCIT:C12722|MA:0000396|EHDAA:8136|UMLS:C0017422|VHOG:0000725|HAO:0000505|BTO:0000082|FBbt:00004927 uberon owl:Class By far, sexual reproduction is the more common pattern among living vertebrate forms and its widespread occurrence suggests that it is the plesiomorphic, or primitive, reproductive mode among the vertebrates.[well established][VHOG] Nd3c7776aea7c4e89a1f5483e221543a1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nda00de79f211484db1e5234bb60bc18e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0007613 biolink:NamedThing memory The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Memory biological_process owl:Class GO:0010656 biolink:NamedThing negative regulation of muscle cell apoptotic process Any process that decreases the rate or frequency of muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a muscle cell and result in its death. tmpxe7fu0cj_hp_relaxed.owl negative regulation of muscle cell apoptosis biological_process owl:Class GO:0010657 biolink:NamedThing muscle cell apoptotic process A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle a muscle cell and result in its death. A muscle cell is a mature contractile cell, commonly known as a myocyte, that forms one of three kinds of muscle. tmpxe7fu0cj_hp_relaxed.owl muscle cell apoptosis biological_process owl:Class HP:0003763 biolink:NamedThing Bruxism Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep. tmpxe7fu0cj_hp_relaxed.owl Teeth grinding SNOMEDCT_US:191983006|MSH:D002012|SNOMEDCT_US:90207007|UMLS:C0006325 human_phenotype owl:Class N562c13361c5442668866f22f6c5b5644 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006692 biolink:NamedThing vertebral canal A conduit enclosed within the vertebral foramen of the vertebrae through which the spinal cord passes. tmpxe7fu0cj_hp_relaxed.owl spinal cavity|spinal canal|c. vertebralis|foramen vertebrale|neural canal|vertebral canal AAO:0000693|UMLS:C1522467|NCIT:C33869|FMA:9680|UMLS:C0037922|NCIT:C34221|GAID:242 http://upload.wikimedia.org/wikipedia/commons/3/30/Gray82.png TODO - check neural vs vertebral canal; embryonic vs adult? uberon owl:Class Canal formed by the vertebral centra ventrally, the pedicels laterally, and the neural arches dorsally that encloses and protects the spinal cord.[AAO] UBERON:0001130 biolink:NamedThing vertebral column Subdivision of skeletal system that consists of all the vertebra and associated skeletal elements and joints in the body[modified from VSAO]. tmpxe7fu0cj_hp_relaxed.owl spinal column|backbone|vertebral column skeleton|vertebral region|spine|columna vertebralis|dorsal spine TAO:0001559|NIF_Subcellular:sao1145756102|AAO:0000699|VSAO:0000185|BTO:0000818|EMAPA:35919|OpenCyc:Mx4rv2j-CpwpEbGdrcN5Y29ycA|MESH:D013131|EFO:0001369|MA:0002416|ZFA:0001559|GAID:106|VHOG:0001142|UMLS:C1519455|galen:SpinalColumn|EHDA:10119|OpenCyc:Mx4rv6GF55wpEbGdrcN5Y29ycA|XAO:0003074|AAO:0000734|NCIT:C33588|UMLS:C0037949|NCIT:C12998|FMA:13478|OpenCyc:Mx4rvVkFEpwpEbGdrcN5Y29ycA Note that in contrast to VSAO, this is a subset of the skeletal system, and thus includes intervertebral joints, cartilage and ligaments etc. Some ontologies such as AAO seem to purely refer to the skeleton uberon owl:Class Anatomical cluster that consists of all the vertebra in the body.[VSAO]|The vertebral column consists of a series of vertebrae connected by ligaments. It provides a supporting axis for the body and protects the spinal cord. [TFD][VHOG] Vertebrata is characterized by three synapomorphies. First, vertebrates have a backbone composed of vertebrae (...).[well established][VHOG] UBERON:0016525 biolink:NamedThing frontal lobe Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border. tmpxe7fu0cj_hp_relaxed.owl lobus frontalis|frontal cortex|lobi frontales|frontal region|regio frontalis UMLS:C1268977|NCIT:C12352|FMA:61824|BIRNLEX:928|BAMS:Frontal_lobe|OpenCyc:Mx4rv3OJ8JwpEbGdrcN5Y29ycA|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=56|UMLS:C0016733|DHBA:12113|EFO:0000913|MESH:A08.186.211.730.885.213.270|HBA:4009|BM:Tel-Cx-FR|CALOHA:TS-0389|MAT:0000505|EV:0100167 Many species don't have lobes but they do have frontal cortex. Lobe isn't a really well defined term though uberon owl:Class UBERON:0001893 biolink:NamedThing telencephalon Part of the forebrain consisting of paired olfactory bulbs and cerebral hemispheres. tmpxe7fu0cj_hp_relaxed.owl endbrain|supratentorial region|cerebrum MAT:0000421|BTO:0000239|UMLS:C0039452|ZFA:0000079|XAO:0000012|EMAPA:16910|BM:Tel|FMA:62000|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=31|TAO:0000079|BAMS:CB|BAMS:Tel|BIRNLEX:1115|SCTID:263353005|BAMS:IV|MBA:567|HBA:4007|EFO:0000912|AAO:0010479|EHDAA2:0001982|DHBA:10158|GAID:621|CALOHA:TS-1018|MESH:D013687|EV:0100165|MA:0000183|VHOG:0000283|Wikipedia:Telencephalon|BAMS:CH|MIAA:0000421|PBA:128011350 uberon owl:Class Organ component of neuraxis that has as its parts the cerebral cortex, cerebral white matter, basal ganglia, septum and fornix, as well as subcortical gray and white matter structures[FMA:62000].|The anterior and dorsal forebrain neuromere, includes the olfactory bulb. Kimmel et al, 1995.[TAO]|Part of the forebrain consisting of paired olfactory bulbs and cerebral hemispheres.[AAO] relationship loss: develops_from presumptive telencephalon (TAO:0000571)[TAO] From an evolutionary standpoint, the telencephalon is the most recent brain structure: the amphioxus does not have this structure as a morphological entity. Overt telencephalon is present in the hagfish and lamprey to receive numerous input fibers from various parts of the CNS, similar to gnathostomes.[well established][VHOG] cerebral|telenencephalic|telencephalic In the most primitive living vertebrates, the hagfishes and lampreys, the cerebrum is a relatively simple structure receiving nerve impulses from the olfactory bulb.|In ray-finned fishes the inner surfaces of the lateral and ventral regions of the cerebrum bulge up into the ventricles.|dolphins are the only species (other than humans) to have cerebra accounting for as much as 2 percent of their body weight.|In mammals the cortex covers almost the whole of the cerebral hemispheres.|The cerebrum of birds has evolved along different lines to that of mammals, although they are similarly enlarged, by comparison with reptiles. However, this enlargement is largely due to the basal ganglia, with the other areas remaining relatively primitive in structure.|In the amniotes, the cerebrum becomes increasingly large and complex. In reptiles, the paleopallium is much larger than in amphibians, and its growth has pushed the basal nuclei into the central regions of the cerebrum.|In ray-finned fishes and most pronounced in teleosts the roof plate of the embryonic telencephalon extends laterally with the effect that the paired alar plates forming the hemispheric walls roll out lateroventrally in a process called eversion. This is unlike the development in other vertebrate groups. [ZFA:0000079, ISBN:3764351209] N441bf0bed3984225843b8cc37b323271 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:79387 biolink:NamedThing trivalent inorganic anion Any inorganic anion with a valency of three. tmpxe7fu0cj_hp_relaxed.owl trivalent inorganic anions chebi_ontology owl:Class GO:0005929 biolink:NamedThing cilium A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. tmpxe7fu0cj_hp_relaxed.owl microtubule-based flagellum|flagellum|primary cilium|eukaryotic flagellum Wikipedia:Cilium|NIF_Subcellular:sao787716553|FMA:67181 Note that we deem cilium and microtubule-based flagellum to be equivalent. In most eukaryotic species, intracellular sub-components of the cilium, such as the ciliary base and rootlet, are located near the plasma membrane. In Diplomonads such as Giardia, instead, the same ciliary parts are located further intracellularly. Also, 'cilium' may be used when axonemal structure and/or motility are unknown, or when axonemal structure is unusual. For all other cases, please refer to children of 'cilium'. Finally, note that any role of ciliary proteins in sensory events should be captured by annotating to relevant biological process terms. GO:0072372 cellular_component owl:Class Nbbe65c134d534b46abb2fe5d6afbc6fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003071 biolink:NamedThing renal system process involved in regulation of systemic arterial blood pressure tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0010402 biolink:NamedThing epidermis suprabasal layer Any layer of the epidermis that is superior to the stratum basale. tmpxe7fu0cj_hp_relaxed.owl suprabasal layer of epidermis|suprabasal layer|suprabasal cell layer of skin EMAPA:35315|MA:0000808 uberon owl:Class UBERON:0001003 biolink:NamedThing skin epidermis The outer epithelial layer of the skin that is superficial to the dermis. tmpxe7fu0cj_hp_relaxed.owl skin|vertebrate epidermis|epidermis NCIT:C12708|UMLS:C0014520|TAO:0000105|GAID:932|EMAPA:17528|CALOHA:TS-0283|MIAA:0000154|MA:0000153|MAT:0000154|XAO:0000028|Wikipedia:Epidermis_(skin)|AAO:0000143|BTO:0000404|MESH:D004817|EV:0100153|ZFA:0000105|SCTID:361694003|FMA:70596|VHOG:0000077|EFO:0000954 uberon owl:Class The outer epithelial layer of the external integument of the body that is derived from the embryonic epiblast.[AAO]|A cellular, multilayered epithelium derived from the ectoderm. Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present. Le Guellec et al, 2004.[TAO] relationship loss: subclass external integument structures (AAO:0000961)[AAO] (...) outer epithelia in all metazoan animals are homologous. (...) The ancestor of all metazoans likely had an epidermis with a basal extracellular matrix (ECM), an apical extracellular glycocalyx, and one cilium with a striated rootlet per cell.[well established][VHOG] epidermal Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present. In terrestrial vertebrates the epidermis often forms an outer keratinized or cornified layer, the stratum corneum. Interaction between the epideris and dermis gives rise to feathers (birds), hair and mammary glands (mammals), teeth and scales (placoid: chondrichthyans; cosmoids, ganoid, cycloid in bony fishes). HP:0005345 biolink:NamedThing Abnormal vena cava morphology An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the vena cava UMLS:C4025210 peter 2008-03-26T06:40:00Z HP:0030971 owl:Class N6f9125238ac74af3926ad8b2dbe567e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001787 biolink:NamedThing photoreceptor layer of retina The layer within the retina where the photoreceptor cell receptor segments reside. tmpxe7fu0cj_hp_relaxed.owl layer of rods and cones|stratum segmentorum externorum et internorum retinae|retinal photoreceptor layers|retinal photoreceptor layer|retina photoreceptor layer|stratum segmentorum externorum et internorum (retina) NCIT:C32954|XAO:0003215|TAO:0000143|UMLS:C0229206|MA:0001308|EMAPA:35686|ZFA:0000143|FMA:58680|VHOG:0001165 http://upload.wikimedia.org/wikipedia/commons/5/55/Gray881.png uberon owl:Class (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The outer layer of the optic cup becomes the pigment layer of the retina, whereas the inner layer differentiates into the photoreceptive cells and neuronal layers of the retina.[well established][VHOG] we follow MA and ZFA in subdividing this into inner and outer segments Ndec4cda791f344ba9f2cd7a75ec5391b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012198 biolink:NamedThing intercostal space A space in the rib cage between two successive ribs. tmpxe7fu0cj_hp_relaxed.owl FMA:12243 uberon owl:Class Ne3509b72910d4f628dc0ed881a9bc382 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002352 biolink:NamedThing gestational hematopoietic stem cell A hematopoietic stem cell that exists during embryogenesis. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2010-09-22T09:05:13Z cell owl:Class GO:0006140 biolink:NamedThing regulation of nucleotide metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. tmpxe7fu0cj_hp_relaxed.owl regulation of nucleotide metabolism biological_process owl:Class GO:0002504 biolink:NamedThing antigen processing and presentation of peptide or polysaccharide antigen via MHC class II The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex. tmpxe7fu0cj_hp_relaxed.owl peptide or polysaccharide antigen processing and presentation of via MHC class II biological_process owl:Class HP:0031647 biolink:NamedThing Saccular aortic arch aneurysm An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 14:19:53+00:00 peter owl:Class N954637c818e747f2a69d9ff4503cddd7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000775 biolink:NamedThing neutrophil Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. tmpxe7fu0cj_hp_relaxed.owl polymorphonuclear leucocyte|neutrophilic leukocyte|polynuclear neutrophilic leucocyte|neutrophil leukocyte|neutrocyte|PMN|polymorphonuclear neutrophil|neutrophilic leucocyte|polynuclear neutrophilic leukocyte|polymorphonuclear leukocyte|neutrophil leucocyte|poly FMA:62860|CALOHA:TS-0688|BTO:0000130 cell owl:Class PR:000001879 biolink:NamedThing leukosialin A protein that is a translation product of the human SPN gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl leukocyte sialoglycoprotein|lymphocyte antigen 48|GALGP|sialophorin|CD43|SPN|galactoglycoprotein|ly-48|B-cell differentiation antigen LP-3 PIRSF:PIRSF001994 Category=gene. Requested by=CL. protein owl:Class GO:0001751 biolink:NamedThing compound eye photoreceptor cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of an eye photoreceptor cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0001745 biolink:NamedThing compound eye morphogenesis The morphogenetic process in which the anatomical structures of the compound eye are generated and organized. The adult compound eye is a precise assembly of 700-800 ommatidia. Each ommatidium is composed of 20 cells, identified by cell type and position. An example of compound eye morphogenesis is found in Drosophila melanogaster. tmpxe7fu0cj_hp_relaxed.owl insect-type retina morphogenesis biological_process owl:Class HP:0006184 biolink:NamedThing Decreased palmar creases Poorly defined or shallow palmar creases. tmpxe7fu0cj_hp_relaxed.owl Poorly formed palmar creases|Shallow palmar creases|Shallow palm line|Hypoplastic palmar creases UMLS:C1857483 HP:0006178 human_phenotype owl:Class N1a4a759d1db94742930108103626abc1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001797 biolink:NamedThing vitreous humor A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina. tmpxe7fu0cj_hp_relaxed.owl ocular fluid|whole portion of vitreous humor|humor vitreus|vitreous humour|vitreous fluid|portion of vitreous humor|humoral fluid|humor vitreous|vitreous OpenCyc:Mx4rv7ZIfZwpEbGdrcN5Y29ycA|FMA:58822|UMLS:C0229096|ENVO:02000032|ZFA:0005561|BTO:0001451|EMAPA:17837|EV:0100344|NCIT:C13323|VHOG:0000795|MA:0001286|CALOHA:TS-0308 http://upload.wikimedia.org/wikipedia/commons/1/1e/Schematic_diagram_of_the_human_eye_en.svg uberon owl:Class UBERON:0005606 biolink:NamedThing hyaloid cavity tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000789|MA:0000272|EMAPA:17302|VHOG:0001477|FMA:312291|EHDAA:4733 uberon owl:Class A depression in the front of the vitreous body, lodging the lens. [adapted_from_the_definition_of_the_hyaloid_fossa] GO:0001840 biolink:NamedThing neural plate development The process whose specific outcome is the progression of the neural plate over time, from its formation to the mature structure. The neural plate is a flat, thickened layer of ectodermal cells. The underlying dorsal mesoderm signals the ectodermal cells above it to elongate into columnar neural plate cells. The neural plate subsequently develops into the neural tube, which gives rise to the central nervous system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001640 biolink:NamedThing celiac artery The first major branch of the abdominal aorta. tmpxe7fu0cj_hp_relaxed.owl celiac trunk|coeliac axis|celiac tree|arteria coeliaca|coeliac trunk|coeliac trunck|arteria cœliaca|truncus cœliacus|truncus coeliacus|coeliac artery MESH:D002445|EHDAA2:0004519|EMAPA:35202|GAID:483|FMA:50737|UMLS:C0007569|MA:0001931|NCIT:C52846 dorsal aorta in Kardong http://upload.wikimedia.org/wikipedia/commons/6/65/Gray532.png uberon owl:Class GO:0071375 biolink:NamedThing cellular response to peptide hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. tmpxe7fu0cj_hp_relaxed.owl cellular response to polypeptide hormone stimulus mah 2009-12-11T03:24:18Z biological_process owl:Class UBERON:0002411 biolink:NamedThing clitoris The small, erectile body located at the anterior end of the vulva. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000255|OpenCyc:Mx4rvVjr6ZwpEbGdrcN5Y29ycA|EMAPA:30819|MESH:D002987|BTO:0002020|UMLS:C0008984|galen:Clitoris|GAID:385|VHOG:0000700|MA:0000382|FMA:9909|EHDAA:9360|NCIT:C12308 http://upload.wikimedia.org/wikipedia/commons/c/cf/Clitoris_anatomy_labeled-en.svg uberon owl:Class clitoral UBERON:0013238 biolink:NamedThing future glans tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class N84591bb4fe1445efae05ad86a04e0610 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010803 biolink:NamedThing Everted upper lip vermilion Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip. tmpxe7fu0cj_hp_relaxed.owl Eclabium of upper lip|Outward turned upper lip|Protruding upper lip|Everted prominent upper lip|Everted upper lip|Drooping upper lip UMLS:C4280363|UMLS:C4023698|UMLS:C3275452 In frontal view, with the face relaxed, the apparent height of the upper lip vermilion is excessive and the upper incisors may be visible. On profile view, the vermilion is more convex than usual. An everted upper lip may be associated with a short philtrum, and may be secondary to protruded upper teeth, but these should be assessed and described separately. peter 2010-06-26T02:30:13Z human_phenotype owl:Class N110081bb40b74c488fcb531bd15d7af6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0032291 biolink:NamedThing axon ensheathment in central nervous system The process in which a glial cell membrane closes around an axon in the central nervous system. This can be a myelinating or a non-myelinating neuron-glial interaction. tmpxe7fu0cj_hp_relaxed.owl ensheathment of axons in central nervous system biological_process owl:Class HP:0003902 biolink:NamedThing Epiphyseal stippling of the humerus The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis. tmpxe7fu0cj_hp_relaxed.owl Stippled ossification of the humeral epiphyses UMLS:C4021711 human_phenotype owl:Class N69d4b1d2be96437792db94383c04522b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003216 biolink:NamedThing hard palate Anterior portion of the palate consisting of bone and mucous membranes[GO]. The hard palate is formed from bony processes of the maxilla, premaxilla and palatine[Kardong]. tmpxe7fu0cj_hp_relaxed.owl palatum durum|hard palate MESH:D021362|EMAPA:18952|MAT:0000161|MIAA:0000161|UMLS:C0226901|GAID:221|MA:0002477|FMA:55023|NCIT:C12230 Illu:mouth.jpg uberon owl:Class in FMA this is divided into bony parts and submucosa HP:0006297 biolink:NamedThing Enamel hypoplasia Developmental hypoplasia of the dental enamel. tmpxe7fu0cj_hp_relaxed.owl Enamel hypoplasia|Thin tooth enamel|Enamel hypotrophy|Enamel, underdeveloped|Thin dental enamel|Underdeveloped teeth enamel|Enamel dysplasia|Hypoplasia of dental enamel|Dental enamel hypoplasia|Hypoplasia of tooth enamel|Dysplasia of tooth enamel|Defective enamel matrix SNOMEDCT_US:699382004|UMLS:C4280457|UMLS:C1851854|UMLS:C0011351|SNOMEDCT_US:699421005|SNOMEDCT_US:26597004|MSH:D003744|UMLS:C4280456 Enamel hypoplasia can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. Enamel hypoplasia may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. Enamel hypoplasia regroups different clinical aspects: localized hypoplasia, generalized hypoplasia, enamel pits, enamel striae, and grooves defects. The term should be used to describe a quantitative defect of enamel. Enamel hypotrophy cannot be used as hypotrophy indicates loss of cells, whereas enamel is an acellular structure and thus not a tissue. HP:0001565|HP:0003770|HP:0000671 owl:Class N884c22370d424c4691d2ae031ad8550e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009306 biolink:NamedThing Triangular shaped distal phalanx of the 4th finger Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped outermost bone of the ring finger UMLS:C4024455 doelkens 2009-01-08T04:41:33Z human_phenotype owl:Class N48d62d05669543878462d61c694f3557 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:Nothing biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0001710 biolink:NamedThing lower jaw region Subdivision of head that consists of the lower jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm]. tmpxe7fu0cj_hp_relaxed.owl mandibular series|lower part of mouth|mandibular part of mouth AAO:0000272|Wikipedia:Lower_jaw|EFO:0003660|EHDAA2:0001018|FMA:59398|MESH:D008334|SCTID:362637005|EHDAA:7995|EMAPA:17906|ncithesaurus:Lower_Jaw|VHOG:0000453 See notes for jaw w.r.t skeletal element vs subdivision of head http://upload.wikimedia.org/wikipedia/commons/6/64/Gray176.png uberon owl:Class Inferior mandibular arch located on the anterior and lateral sides of the skull.[AAO] Subsequent vertebrate evolution has also involved major alterations to the pharynx; perhaps the most notable occurred with the evolution of the gnathostomes. This involved substantial modifications to the most anterior pharyngeal segments, with the jaw forming from the first, anterior, pharyngeal segment, while the second formed its supporting apparatus, the hyoid.[well established][VHOG] Note isa/partof difference MA/FMA PR:000001945 biolink:NamedThing transferrin receptor protein 1 A protein that is a translation product of the human TFRC gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl TfR1|TFRC|T9|p90|CD71|TR|Trfr|TfR Category=gene. Requested by=CL. protein owl:Class N7d8e9dbefdfe46e196e9ed713c5d78ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0033762 biolink:NamedThing response to glucagon Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucagon stimulus. tmpxe7fu0cj_hp_relaxed.owl response to glucagon stimulus biological_process owl:Class CHEBI:5391 biolink:NamedThing glucagon A 29-amino acid peptide hormone consisting of His, Ser, Gln, Gly, Thr, Phe, Thr, Ser, Asp, Tyr, Ser, Lys, Tyr, Leu, Asp, Ser, Arg, Arg, Ala, Gln, Asp, Phe, Val, Gln, Trp, Leu, Met, Asn and Thr residues joined in sequence. tmpxe7fu0cj_hp_relaxed.owl Glucagon|L-histidyl-L-seryl-L-glutaminylglycyl-L-threonyl-L-phenylalanyl-L-threonyl-L-seryl-L-alpha-aspartyl-L-tyrosyl-L-seryl-L-lysyl-L-tyrosyl-L-leucyl-L-alpha-aspartyl-L-seryl-L-arginyl-L-arginyl-L-alanyl-L-glutaminyl-L-alpha-aspartyl-L-phenylalanyl-L-valyl-L-glutaminyl-L-tryptophyl-L-leucyl-L-methionyl-L-asparaginyl-L-threonine|His-ser-glu(nh2)-gly-thr-phe-thr-ser-asp-tyr-ser-lys-tyr-leu-asp-ser-arg-arg-ala-glu(NH2)-asp-phe-val-glu(NH2)-trp-leu-met-asp(NH2)-thr|HSQGTFTSDYSKYLDSRRAQDFVQWLMNT|glucagonum|Glucagone|His-Ser-Gln-Gly-Thr-Phe-Thr-Ser-Asp-Tyr-Ser-Lys-Tyr-Leu-Asp-Ser-Arg-Arg-Ala-Gln-Asp-Phe-Val-Gln-Trp-Leu-Met-Asn-Thr|glucagon 0 C153H225N43O49S InChI=1S/C153H225N43O49S/c1-72(2)52-97(133(226)176-96(47-51-246-11)132(225)184-104(60-115(159)209)143(236)196-123(78(10)203)151(244)245)179-137(230)103(58-83-64-167-89-29-19-18-28-87(83)89)183-131(224)95(43-46-114(158)208)177-148(241)120(74(5)6)194-141(234)101(54-79-24-14-12-15-25-79)182-138(231)105(61-117(211)212)185-130(223)94(42-45-113(157)207)171-124(217)75(7)170-127(220)91(31-22-49-165-152(160)161)172-128(221)92(32-23-50-166-153(162)163)174-146(239)110(69-199)191-140(233)107(63-119(215)216)186-134(227)98(53-73(3)4)178-135(228)99(56-81-33-37-85(204)38-34-81)180-129(222)90(30-20-21-48-154)173-145(238)109(68-198)190-136(229)100(57-82-35-39-86(205)40-36-82)181-139(232)106(62-118(213)214)187-147(240)111(70-200)192-150(243)122(77(9)202)195-142(235)102(55-80-26-16-13-17-27-80)188-149(242)121(76(8)201)193-116(210)66-168-126(219)93(41-44-112(156)206)175-144(237)108(67-197)189-125(218)88(155)59-84-65-164-71-169-84/h12-19,24-29,33-40,64-65,71-78,88,90-111,120-123,167,197-205H,20-23,30-32,41-63,66-70,154-155H2,1-11H3,(H2,156,206)(H2,157,207)(H2,158,208)(H2,159,209)(H,164,169)(H,168,219)(H,170,220)(H,171,217)(H,172,221)(H,173,238)(H,174,239)(H,175,237)(H,176,226)(H,177,241)(H,178,228)(H,179,230)(H,180,222)(H,181,232)(H,182,231)(H,183,224)(H,184,225)(H,185,223)(H,186,227)(H,187,240)(H,188,242)(H,189,218)(H,190,229)(H,191,233)(H,192,243)(H,193,210)(H,194,234)(H,195,235)(H,196,236)(H,211,212)(H,213,214)(H,215,216)(H,244,245)(H4,160,161,165)(H4,162,163,166)/t75-,76+,77+,78+,88-,90-,91-,92-,93-,94-,95-,96-,97-,98-,99-,100-,101-,102-,103-,104-,105-,106-,107-,108-,109-,110-,111-,120-,121-,122-,123-/m0/s1 MASNOZXLGMXCHN-ZLPAWPGGSA-N 3482.74700 3480.61570 CSCC[C@H](NC(=O)[C@H](CC(C)C)NC(=O)[C@H](Cc1c[nH]c2ccccc12)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@@H](NC(=O)[C@H](Cc1ccccc1)NC(=O)[C@H](CC(O)=O)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@H](C)NC(=O)[C@H](CCCNC(N)=N)NC(=O)[C@H](CCCNC(N)=N)NC(=O)[C@H](CO)NC(=O)[C@H](CC(O)=O)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](Cc1ccc(O)cc1)NC(=O)[C@H](CCCCN)NC(=O)[C@H](CO)NC(=O)[C@H](Cc1ccc(O)cc1)NC(=O)[C@H](CC(O)=O)NC(=O)[C@H](CO)NC(=O)[C@@H](NC(=O)[C@H](Cc1ccccc1)NC(=O)[C@@H](NC(=O)CNC(=O)[C@H](CCC(N)=O)NC(=O)[C@H](CO)NC(=O)[C@@H](N)Cc1cnc[nH]1)[C@@H](C)O)[C@@H](C)O)C(C)C)C(=O)N[C@@H](CC(N)=O)C(=O)N[C@@H]([C@@H](C)O)C(O)=O PMID:22438981|CAS:16941-32-5|PMID:22166985|DrugBank:DB00040|PMID:22286080|PMID:22167521|CAS:9007-92-5|PMID:22334714|PMID:22454291|PMID:21940356|Wikipedia:Glucagon|PMID:22227186|Drug_Central:2994|KEGG:C01501|PMID:22214853|KEGG:D00116|PMID:22318544|PMID:22399501|PMID:22154917|PMID:22014161|PMID:22294753|Reaxys:13191924 chebi_ontology owl:Class GO:0043200 biolink:NamedThing response to amino acid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. tmpxe7fu0cj_hp_relaxed.owl response to amino acid stimulus GO:0010237 biological_process owl:Class UBERON:0005867 biolink:NamedThing mandibular prominence The paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip. tmpxe7fu0cj_hp_relaxed.owl prominentia mandibularis|mandibular process|mandibular swelling EHDAA2:0001061|EHDAA:5871|NCIT:C34204|Wikipedia:Mandibular_prominence|FMA:293051|UMLS:C1512982|EMAPA:17355 check develops_from uberon owl:Class Nf19c158cc019478eaceca4f8827bb15f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002091 biolink:NamedThing appendicular skeleton Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]. tmpxe7fu0cj_hp_relaxed.owl skeleton appendiculare|appendicular skeleton|entire appendicular skeleton|paired fin skeleton SCTID:322050006|MAT:0000278|MA:0000290|FMA:71222|UMLS:C0222646|EFO:0000951|MIAA:0000278|Wikipedia:Appendicular_skeleton|VHOG:0001666|NCIT:C49477|XAO:0003166|AAO:0000747|EMAPA:32729|VSAO:0000076 http://upload.wikimedia.org/wikipedia/commons/7/7c/Appendicular_skeleton_diagram.svg uberon https://github.com/obophenotype/uberon/wiki/Appendages-and-the-appendicular-skeleton owl:Class Skeletal subdivision consisting of all the skeletal elements in the pectoral and pelvic appendage complexes.[VSAO]|The pectoral and pelvic girdles, which articulate with the axial skeleton, together with their associated limbs, the forelimbs and hind limbs, form the appendicular skeleton.[AAO]|Skeletal system that consists of the paired fins (pectoral or pelvic fins).[TAO] ontologies differ in whether they treat the term appendicular skeleton as being the entire set of bones in the limbs, or whether the fore and hind limbs/fins are treated as seperate appendicular skeletons. Here we follow FMA, and treat the appendicular skeleton as the sum total of skeletal elements in the organism (this is evidenced by the fact that in FMA, skeleton of left/right upper/lower limb is part_of a appendicular skeleton, and subtypes of 'subdivision of appendicular skeleton'). We have separate classes such as 'skeleton of limb', and 'skeleton of hindlimb' for the 4 parts of the appendicular skeleton. In future the ZFA/TAO classes may be moved. HP:0010681 biolink:NamedThing Elevated intestinal alkaline phosphatase An abnormally increased level of alkaline phosphatase, intestinal type in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated intestinal ALP UMLS:C4023744 Intestinal alkaline phosphatase (IAP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID:248, Uniprot ID: P09923 (PPBI_HUMAN). doelkens 2010-03-05T11:10:34Z owl:Class N88e8a34ac565458faface0183bfb6447 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002811 biolink:NamedThing left frontal lobe A frontal cortex that is part of a left cerebral hemisphere. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1281955|FMA:72970|BIRNLEX:1787 uberon owl:Class CHEBI:17924 biolink:NamedThing D-glucitol The D-enantiomer of glucitol (also known as D-sorbitol). tmpxe7fu0cj_hp_relaxed.owl D-SORBITOL|D-sorbitol|G-ol|Glc-ol|D-Sorbit|D-Glucitol|D-Sorbitol|L-Gulitol|E420|D-glucitol|E 420|D-(-)-sorbitol|(-)-sorbitol|(2R,3R,4R,5S)-hexane-1,2,3,4,5,6-hexol|E-420 0 C6H14O6 InChI=1S/C6H14O6/c7-1-3(9)5(11)6(12)4(10)2-8/h3-12H,1-2H2/t3-,4+,5-,6-/m1/s1 FBPFZTCFMRRESA-JGWLITMVSA-N 182.17176 182.07904 OC[C@H](O)[C@@H](O)[C@H](O)[C@H](O)CO PDBeChem:SOR|PMID:16901854|PMID:19695255|PMID:17336832|PMID:22735334|PMID:24643482|PMID:19443021|DrugBank:DB01638|CAS:50-70-4|Beilstein:4656395|PMID:17979222|KEGG:C00794|Wikipedia:Sorbitol|PMID:23683321|KEGG:D00096|PMID:25108762|PMID:31537530|PPDB:1320|Reaxys:1721899|PMID:22878210|PMID:25568069|Drug_Central:2462|Gmelin:83162|Beilstein:1721899|HMDB:HMDB0000247|KNApSAcK:C00001173 CHEBI:13020|CHEBI:12954|CHEBI:45559|CHEBI:4246|CHEBI:21091 chebi_ontology owl:Class CHEBI:50505 biolink:NamedThing sweetening agent Substance that sweeten food, beverages, medications, etc. tmpxe7fu0cj_hp_relaxed.owl sweeteners|sweetener chebi_ontology owl:Class UBERON:0010544 biolink:NamedThing metacarpus skeleton The metacarpus is the intermediate part of the manus skeleton that is located between the phalanges (bones of the fingers) distally and the carpus which forms the connection to the forearm. The metacarpus consists of metacarpal bones. The metacarpals form a transverse arch to which the rigid row of distal carpal bones are fixed. The peripheral metacarpals (those of the thumb and little finger) form the sides of the cup of the palmar gutter and as they are brought together they deepen this concavity. The index metacarpal is the most firmly fixed, while the thumb metacarpal articulates with the trapezium and acts independently from the others. The middle metacarpals are tightly united to the carpus by intrinsic interlocking bone elements at their bases. The ring metacarpal forms a transitional element of the semi-independent last metacarpal. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl metacarpalia|metacarpal skeleton|anterior metapodial skeleton|ossa metacarpalia [I-V]|metacarpals set|fore metapodial skeleton|metacarpal bones|ossa metacarpi [I-V]|metacarpals [I-V]|set of metacarpals|set of metacarpal bones|set of metacarpals [I-V]|skeleton of metacarpus|fore metapodium|anterior metapodium MESH:A02.835.232.087.535|AAO:0000946|EMAPA:36158|VSAO:0005026|FMA:71336|XAO:0003208 Metacarpals:numbered-en.svg uberon owl:Class Segment of the forearm corresponding to the metacarpus, which articulates with the carpals at one end and with the phalanges at the other end.[AAO] UBERON:0004453 biolink:NamedThing metacarpus region A metapodium region that is part of a manus. tmpxe7fu0cj_hp_relaxed.owl forelimb equine cannon region|distal segment of hand proper|forelimb cannon region|metacarpal region|metacarpus|metacarpal part of manus|metacarpal part of hand EMAPA:32654|CALOHA:TS-2218|FMA:24925|MA:0000042 Metacarpals:numbered-en.svg Note that along with FMA we treat this as a limb segment rather than a purely skeletal element uberon owl:Class metacarpal Note that mammalian and non-mammalian AOs differ in whether they consider this a part of the skeleton GO:0050909 biolink:NamedThing sensory perception of taste The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process. tmpxe7fu0cj_hp_relaxed.owl taste|taste perception|sense of taste|gustation Wikipedia:Taste biological_process owl:Class UBERON:0010186 biolink:NamedThing male urethral gland Any of the numerous small mucous-secreting glands located in the wall of the penile urethra. tmpxe7fu0cj_hp_relaxed.owl male urethra gland|glandulae urethrales urethrae masculinae|Littre's gland|urethral gland (male)|gland of male urethra|gland of Littre EMAPA:29645|UMLS:C1314737|NCIT:C49311|FMA:21443 uberon owl:Class UBERON:0001333 biolink:NamedThing male urethra A urethra that is part of a male reproductive system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0458452|EMAPA:18692|NCIT:C33050|FMA:19668|MA:0002640|BTO:0004089 Female:anatomy.png uberon owl:Class CHEBI:84735 biolink:NamedThing algal metabolite Any eukaryotic metabolite produced during a metabolic reaction in algae including unicellular organisms like chlorella and diatoms to multicellular organisms like giant kelps and brown algae. tmpxe7fu0cj_hp_relaxed.owl algal metabolites chebi_ontology owl:Class GO:0048390 biolink:NamedThing intermediate mesoderm morphogenesis The process in which the anatomical structures of the intermediate mesoderm are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0005625 biolink:NamedThing tubotympanic recess lumen The cavity formed by the tubotympanic recess epithelium. tmpxe7fu0cj_hp_relaxed.owl tubotympanic recess cavity|tubotympanic recess space|tubotympanic recess|cavity of tubotympanic recess EHDAA2:0002095|FMA:312393 uberon owl:Class UBERON:0007122 biolink:NamedThing pharyngeal pouch 1 A pharyngeal pouch that is between pharyngeal arches 1 and 2. tmpxe7fu0cj_hp_relaxed.owl first visceral pouch|first arch pharyngeal pouch|hyomandibular pouch|1st arch pouch endoderm|1st arch branchial pouch endoderm|pharyngeal pouches 1|1st branchial pouch|1st pharyngeal pouch endoderm|first pharyngeal pouch|1st arch branchial pouch|visceral pouch 1 XAO:0000102|VHOG:0000555|VHOG:0000970|FMA:295668|NCIT:C34176|EMAPA:16125|ZFA:0001128|AAO:0011114|UMLS:C0231068|EMAPA:16124|EHDAA2:0000016|SCTID:345248006|EFO:0003631|Wikipedia:Pharyngeal_pouch_(embryology)#First_pouch|TAO:0001128 UBERON:0005718 uberon owl:Class . [][VHOG] In all jawed vertebrates the first arch forms the jaw, while the second arch forms the hyoid apparatus. These two arches are separated by the first pharyngeal pouch and cleft.[well established][VHOG] The endoderm lines the future auditory tube (Pharyngotympanic Eustachian tube) , middle ear, mastoid antrum, and inner layer of the tympanic membrane. & origin of Mandibular nerve & Maxillary artery we use adjacency relations rather than part_of, as in EHDAA2. UBERON:0006849 biolink:NamedThing scapula Endochondral bone that is dorsoventrally compressed and provides attachment site for muscles of the pectoral appendage. tmpxe7fu0cj_hp_relaxed.owl shoulder blade|scapula bone|scapulae|scapulas ZFA:0000583|MESH:D012540|VSAO:0000157|GAID:186|TAO:0000583|EMAPA:18722|UMLS:C0036277|VHOG:0001398|galen:Scapula|EFO:0001400|NCIT:C12783|AAO:0000751|CALOHA:TS-0897|MA:0001330|BTO:0001218|OpenCyc:Mx4rvVji0JwpEbGdrcN5Y29ycA|FMA:13394 Pectoral:girdles-en.svg UBERON:0010904|UBERON:0001124 uberon owl:Class Paired bony elements of endochondral origin. They are situated at the level of the jaw articulation, in a vertical position, with the suprascapular margin being dorsal and the glenoid end being ventral.[AAO]|Endochondral bone that is located medial to the cleithrum, and articulates ventrally with the coracoid, medially with the mesocoracoid when the later is present and posteriorly with the upper one to three proximal radials. The scapula develops from the scapulocoracoid cartilage and belongs to the primary pectoral girdle. It may be perforated by the scapular foramen or it may be notched ventr and forms together with a similar notch of the coracoid the scapulocoracoid foramen[TAO:0000583]. relationship loss: has pars glenoidalis of scapula (AAO:0000753)[AAO]|relationship loss: part_of scapular area (AAO:0000935)[AAO] scapular present in all tetrapods with even vestiges of anterior limbs, e.g., turtles & birds & mammals. chick scapula is of dual origin and segmentally organized UBERON:0037447 biolink:NamedThing wall of male urethra tmpxe7fu0cj_hp_relaxed.owl male urethral wall FMA:19676 uberon owl:Class HP:0004279 biolink:NamedThing Short palm Short palm. tmpxe7fu0cj_hp_relaxed.owl Short hands|Short palm|Hypoplastic hands|Short palms UMLS:C1843108 This term refers to a developmental finding resulting in short palms. This term is reserved for individuals with shortening of all four metacarpals 2-5. Individuals with fewer than four shortened metacarpals (in a eudactylous hand, the metacarpals of F2-5) should be coded as Metacarpal, short. See the entry for Hand, small for a discussion of this finding. "Short hand" should not be used as it is a bundle of two readily separable terms, Fingers, short (which, as noted above, can itself be a bundled term) and Palm, short. HP:0001165 human_phenotype owl:Class Nabc95bfc58134354b9f66e92baf756e5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008785 biolink:NamedThing Delayed ossification of pubic rami Delayed maturation and calcification of the rami (branches) of the pubic bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1865363 human_phenotype owl:Class N596e7d8fc4be4bb682309cf581443b8c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000153 biolink:NamedThing anterior region of body tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0042747 biolink:NamedThing circadian sleep/wake cycle, REM sleep A stage in the circadian sleep cycle during which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:15379 biolink:NamedThing dioxygen tmpxe7fu0cj_hp_relaxed.owl OXYGEN MOLECULE|E948|Oxygen|E-948|molecular oxygen|Disauerstoff|dioxygene|O2|E 948|[OO]|dioxygen 0 O2 InChI=1S/O2/c1-2 MYMOFIZGZYHOMD-UHFFFAOYSA-N 31.99880 31.98983 O=O KEGG:D00003|PDBeChem:OXY|MetaCyc:OXYGEN-MOLECULE|KEGG:C00007|PMID:10906528|HMDB:HMDB0001377|PMID:16977326|Wikipedia:Oxygen|PMID:18210929|MolBase:750|CAS:7782-44-7|Gmelin:485|PMID:7710549|PMID:19840863|PMID:9463773|PMID:18638417 CHEBI:7860|CHEBI:30491|CHEBI:13416|CHEBI:44742|CHEBI:25366|CHEBI:10745|CHEBI:23833 chebi_ontology owl:Class UBERON:0010545 biolink:NamedThing metatarsus skeleton Limb segment that consists of the long bones of the pes. The metatarsals are analogous to the metacarpal bones of the manus. tmpxe7fu0cj_hp_relaxed.owl metatarsalia|posterior metapodium|skeleton of metatarsus|ossa metatarsalia|set of metatarsal bones|metatarsals [I-V]|posterior metapodial skeleton|ossa metatarsi[I-V]|metatarsal bones set|set of metatarsals [I-V]|metatarsal skeleton|ossa metatarsalia [I-V] XAO:0003212|VSAO:0005027|MESH:D008684|OpenCyc:Mx4rva_rBJwpEbGdrcN5Y29ycA|FMA:71340|AAO:0000221 http://upload.wikimedia.org/wikipedia/commons/5/52/Gray291.png uberon owl:Class Segment of the leg corresponding to the metatarsus, which articulates with the carpals at one end and with the phalanges at the other end.[AAO] UBERON:0012152 biolink:NamedThing skeleton of pedal digitopodium A subdivision of the pes skeleton consisting of both pedal acropodial skeleton and metatarsal skeleton, but excluding the tarsal skeleton. tmpxe7fu0cj_hp_relaxed.owl pedal digitopodium uberon https://github.com/obophenotype/uberon/wiki/Subdivisions-of-the-autopod owl:Class some sources call this the acropodium. see https://github.com/obophenotype/uberon/wiki/Subdivisions-of-the-autopod UBERON:0002357 biolink:NamedThing serous pericardium Serous membrane which is divided into parietal and visceral serous pericardium. tmpxe7fu0cj_hp_relaxed.owl serous portion of pericardium|pericardium serosum EMAPA:19030|FMA:9582|Wikipedia:Serous_pericardium|SCTID:243954002|MA:0002739 uberon owl:Class HP:0010093 biolink:NamedThing Duplication of the proximal phalanx of the hallux Partial or complete duplication of the proximal phalanx of big toe. tmpxe7fu0cj_hp_relaxed.owl Duplication of the innermost bone of big toe UMLS:C4024054 doelkens 2009-05-29T12:17:16Z human_phenotype owl:Class Ncd204722a61e4edca83615a9ec69a33b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:24859 biolink:NamedThing iodine atom Chemical element with atomic number 53. tmpxe7fu0cj_hp_relaxed.owl iode|J|Iod|I|Jod|iodium|yodo|iodine|53I 0 I InChI=1S/I ZCYVEMRRCGMTRW-UHFFFAOYSA-N 126.90447 126.90447 [I] WebElements:I chebi_ontology owl:Class UBERON:0002275 biolink:NamedThing reticular formation A composite substructure of the brainstem that consists of the midbrain reticular formation, the pontine reticular formation and the medullary reticular formation ( Carpenter-1983 ). tmpxe7fu0cj_hp_relaxed.owl brainstem reticular formation|brain stem reticular formation|reticular formation of the brainstem|reticular formation (classical) FMA:77719|SCTID:361552007|MESH:D012154|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1223|BAMS:RET|NLX:143558|MA:0003185|EMAPA:35188|Wikipedia:Reticular_formation this class denotes the generic structure, and not a specific one such as medullary or pontine reticular formation. http://upload.wikimedia.org/wikipedia/commons/9/9b/Gray701.png uberon owl:Class It is essential for governing some of the basic functions of higher organisms, and is one of the phylogenetically oldest portions of the brain. FMA has a spinal cord reticular formation but we follow NNs (classical) to restrict this to brainstem structures. This means we also include the MA class for brainstem reticular formation here. FMA has subtypes of reticular formation but we treat this as a composite structure UBERON:0019190 biolink:NamedThing mucous gland of lung tmpxe7fu0cj_hp_relaxed.owl peribronchial gland|bronchial mucous gland|bronchial gland FMA:13119|BTO:0004638 uberon owl:Class UBERON:0000110 biolink:NamedThing neurula stage Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. tmpxe7fu0cj_hp_relaxed.owl BILS:0000110|HsapDv:0000012|MmusDv:0000017|XAO:1000006|BilaDO:0000009 uberon https://github.com/obophenotype/uberon/issues/343 owl:Class CHEBI:59163 biolink:NamedThing biomarker A substance used as an indicator of a biological state. tmpxe7fu0cj_hp_relaxed.owl biological marker chebi_ontology owl:Class N4953d77f880e487e80600a7c33c6c04f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc55a6ee3858648a9a95d64371163fec8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0000461 biolink:NamedThing normal A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average. tmpxe7fu0cj_hp_relaxed.owl average quality owl:Class HP:0008079 biolink:NamedThing Absent fifth metatarsal A developmental abnormality characterized by the absence of the fifth metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Absent 5th long bone of foot|Aplasia of the fifth metatarsal bone|Absent 5th metatarsals UMLS:C1867932 HP:0010670 human_phenotype owl:Class N04672e04944c42e5a46f2947d6ea9745 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005998 biolink:NamedThing tricuspid valve cusp The three fibrous triangular components and associated flaps of the tricuspid valve. tmpxe7fu0cj_hp_relaxed.owl septal leaflet of tricuspid valve|septal leaflet of right-sided tricuspid valve|cuspis septalis valvae atrioventricularis dextrae|septal cusp of tricuspid valve|cuspis septalis (valva tricuspidalis)|septal tricuspid leaflet|septal cusp of right atrioventricular valve FMA:7240 check whether we need to separate cusp/leaflet/valve uberon owl:Class GO:0050900 biolink:NamedThing leukocyte migration The movement of a leukocyte within or between different tissues and organs of the body. tmpxe7fu0cj_hp_relaxed.owl leukocyte trafficking|leucocyte trafficking|immune cell trafficking|immune cell migration|leucocyte migration biological_process owl:Class HP:0031888 biolink:NamedThing Abnormal HDL cholesterol concentration Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood. tmpxe7fu0cj_hp_relaxed.owl 2018-05-13 14:42:38+00:00 HDL returns excess cholesterol from cells to the liver via various pathways. peter owl:Class N0f919c0a08904c01afe86de3165762f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003896 biolink:NamedThing Irregular humeral epiphyses tmpxe7fu0cj_hp_relaxed.owl Irregular end part of long bone in upper arm UMLS:C4025524 human_phenotype owl:Class N46ddedd7036b4a96ab406b127859ad1c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002789 biolink:NamedThing Tachypnea Very rapid breathing. tmpxe7fu0cj_hp_relaxed.owl Increased respiratory rate or depth of breathing|Polypnea MSH:D059246|UMLS:C0231835|SNOMEDCT_US:271823003 In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute. HP:0004346|HP:0002874 owl:Class Nd8c282066dd843bab9d9c1e3271b9e37 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001148 biolink:NamedThing median nerve A nerve of the arm that originates from the brachial plexus and is formed from parts of the medial and lateral cords of the brachial plexus, and continues down the arm to enter the forearm with the brachial artery. It originates from the brachial plexus with roots from C5, C6, C7, C8 & T1. tmpxe7fu0cj_hp_relaxed.owl nervus medianus EHDAA2:0001086|NCIT:C52815|UMLS:C0025058|MA:0001168|GAID:843|MESH:D008475|EHDAA:5648|EMAPA:17277|OpenCyc:Mx4rwF4HF5wpEbGdrcN5Y29ycA|FMA:14385 The median nerve is the only nerve that passes through the carpal tunnel, where it may be compressed to cause carpal tunnel syndrome. [WP] http://upload.wikimedia.org/wikipedia/commons/a/a7/Nerves_of_the_left_upper_extremity.gif uberon owl:Class HP:0000176 biolink:NamedThing Submucous cleft hard palate Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. tmpxe7fu0cj_hp_relaxed.owl Partial thickness cleft hard palate|Submucous clefting|Submucosal cleft palate UMLS:C4020894|SNOMEDCT_US:43437003|UMLS:C0432103 HP:0000208|HP:0009091|HP:0002746 human_phenotype owl:Class N6c753d77557f4635b78a9dfad9e6797b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000355 biolink:NamedThing multi-potent skeletal muscle stem cell A multifate stem cell found in skeletal muscle than can differentiate into many different cell types, including muscle. Distinct cell type from satellite cell. tmpxe7fu0cj_hp_relaxed.owl FMA:86767 Multi-potency demonstrated ex vivo. At the time of writing, it is unclear whether the endogenous population differentiates into multiple cell types in vivo. cell owl:Class GO:0003097 biolink:NamedThing renal water transport tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0001515 biolink:NamedThing thoracic aorta The part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. tmpxe7fu0cj_hp_relaxed.owl thoracic part of aorta|aorta thoracalis|pars thoracica aortae|aorta thoracica galen:ThoracicAorta|BTO:0000157|GAID:471|OpenCyc:Mx4rveb9TpwpEbGdrcN5Y29ycA|UMLS:C1522460|FMA:3786|Wikipedia:Thoracic_aorta|NCIT:C33766|EFO:0002525|SCTID:302510009|MA:0002569|EMAPA:18603|MESH:D001013 http://upload.wikimedia.org/wikipedia/commons/7/75/Gray530.png uberon owl:Class UBERON:0000915 biolink:NamedThing thoracic segment of trunk Subdivision of trunk that lies between the head and the abdomen. tmpxe7fu0cj_hp_relaxed.owl upper body|anterior subdivision of trunk|thorax|upper trunk EMAPA:35862|SCTID:302551006|FMA:259209|Wikipedia:Thorax|MA:0000022 note that we use the slightly verbose term 'thoracic segment of trunk' to avoid confusuon with insect thorax. todo - taxonomic constraints. Also, in FMA 'thorax' is a synonym for chest uberon owl:Class UBERON:0002418 biolink:NamedThing cartilage tissue Skeletal tissue that is avascular, rich in glycosaminoglycans (GAGs) and typically includes chondrocytes within isolated lacunae. Cartilage tissue is deposited by chondroblasts. tmpxe7fu0cj_hp_relaxed.owl cartilages|chondrogenic tissue|cartilaginous tissue|cartilage tissue|cartilage|portion of cartilage tissue NCIT:C32268|Wikipedia:Cartilage|NCIT:C12373|XAO:0000170|UMLS:C0007301|AEO:0000087|TAO:0001501|EMAPA:32730|AAO:0000060|VHOG:0001207|GAID:99|MESH:D002356|OpenCyc:Mx4rvVjeOZwpEbGdrcN5Y29ycA|SCTID:309312004|EHDAA2:0003087|BTO:0000206|galen:Cartilage|EV:0100141|EFO:0000949|MIAA:0000189|ZFA:0005622|MA:0000104|VSAO:0000040|FMA:37377|MAT:0000189 Previous: "A portion of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate[GO]. Regular connective tissue, which consists of chondrocytes and related cells, the intercellular matrix of which is chondrified. Examples: hyaline cartilage, fibrocartilage, elastic cartilage[FMA]. an avascular supporting and articular skeletal tissue. It also functions as the primary endoskeletal support in vertebrate embryos. Cartilage is deposited by and is composed of chondroblasts and chondrocytes separated by an extracellular matrix, which may or may not mineralize depending on cartilage type, age, or taxon[Hall and Witten]." See also FMA:71500 Set of cartilages, FMA:55107 Cartilage organ, FMA:12264 Articular cartilage. // elements made from cartilage, cartilage-like, or chondroid tissues evolved in invertebrates[H&W] http://upload.wikimedia.org/wikipedia/commons/e/ee/Hypertrophic_Zone_of_Epiphyseal_Plate.jpg uberon owl:Class A type of dense connective tissue. It is composed of cells called chondrocytes which are dispersed in a firm gel-like ground substance, called the matrix. Cartilage is avascular (contains no blood vessels) and nutrients are diffused through the matrix. Cartilage is found in the joints, the rib cage, the ear, the nose, in the throat and between intervertebral disks. It makes up virtually the entire skeleton in chondrichthyes.[AAO]|Portion of tissue which is connective tissue composed of collagen and/or elastin fibers and chondrocytes. Cartilage is avascular and provides both skeletal functions and a framework upon which bone is deposited.[TAO]|Skeletal tissue that is avascular, rich in glycosaminoglycans (GAGs) and typically includes chondrocytes within isolated lacunae. Cartilage tissue is deposited by chondroblasts.[VSAO] relationship loss: subclass specialized connective tissue (AAO:0000571)[AAO] Phylogenetic analysis suggests that cartilage arose independently in cnidarians, hemichordates, vertebrates, arthropods, annelids, brachiopods, and molluscs - or a common ancestor of brachiopods and molluscs (...). Analyses of cartilage as a tissue and of the development of invertebrate cartilages are consistent with homology between invertebrate and vertebrate cartilage. From the discussion above, it will be clear that understanding genetic changes underlying cartilage evolution is key to determining whether the multiple origins of cartilage represent parallel evolution.[well established][VHOG] CL:0011027 biolink:NamedThing skeletal muscle fibroblast Any fibroblast that is part of skeletal muscle tissue. tmpxe7fu0cj_hp_relaxed.owl skeleton muscle fibroblast owl:Class GO:0002262 biolink:NamedThing myeloid cell homeostasis The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0003306 biolink:NamedThing Spinal rigidity Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. tmpxe7fu0cj_hp_relaxed.owl Reduced spine movement|Rigid spine UMLS:C1858025 human_phenotype owl:Class N03e46cc63ad245f19a4a5804d89e4489 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0016549 biolink:NamedThing central nervous system white matter layer A layer of of the central nervous system that is composed of white matter. tmpxe7fu0cj_hp_relaxed.owl CNS white matter layer|white matter layer of neuraxis|white matter layer FMA:83898 uberon owl:Class UBERON:0003071 biolink:NamedThing eye primordium Portion of tissue that is part of the anterior neural keel and will form the optic vesicle[ZFA]. A paired ectodermal placode that becomes invaginated to form the embryonic lens vesicles. tmpxe7fu0cj_hp_relaxed.owl ocular primordium|optic placode of camera-type eye|optic field|optic primordium|eye anlage|optic placode|eye placode|occular primordium|eye field|optic placodes EHDAA2:0004431|XAO:0004090|XAO:0000227|TAO:0000570|EFO:0003541|ZFA:0000570|AAO:0011038 UBERON:0005060 uberon owl:Class TODO - check that GO's optic placode is the same as ZFA's eye primordium; we may want to have separate term for ocular primordium precursor. XAO has both optic field and eye primordium. UBERON:0003056 biolink:NamedThing pre-chordal neural plate The portion of neural plate anterior to the mid-hindbrain junction. tmpxe7fu0cj_hp_relaxed.owl anterior neural plate ZFA:0007016|VHOG:0001200|AAO:0011084|XAO:0000045|TAO:0007016 uberon owl:Class (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...).[well established][VHOG] UBERON:0011092 biolink:NamedThing right pelvic girdle region A pelvic girdle region that is in the right side of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl right pelvic girdle FMA:16582 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern Nbbfbc96e77374c8c8e4f23d068f27b97 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:16924 biolink:NamedThing 5-oxo-D-proline The D-enantiomer of 5-oxoproline. tmpxe7fu0cj_hp_relaxed.owl 5-Oxo-D-proline|D-Pyroglutamic acid|(2R)-5-oxopyrrolidine-2-carboxylic acid|5-oxo-D-proline|D-5-Pyrrolidone-2-carboxylic acid 0 C5H7NO3 InChI=1S/C5H7NO3/c7-4-2-1-3(6-4)5(8)9/h3H,1-2H2,(H,6,7)(H,8,9)/t3-/m1/s1 ODHCTXKNWHHXJC-GSVOUGTGSA-N 129.11400 129.04259 OC(=O)[C@H]1CCC(=O)N1 Beilstein:82133|DrugBank:DB03088|CAS:4042-36-8|HMDB:HMDB0000267|Reaxys:82133|KEGG:C02237|Gmelin:1473408|MetaCyc:CPD-656|PMID:22770225 CHEBI:12152|CHEBI:20618|CHEBI:2112 chebi_ontology owl:Class HP:0002922 biolink:NamedThing Increased CSF protein Increased concentration of protein in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Spinal fluid protein elevated|Cerebrospinal fluid with increased protein|Hyperproteinorrhachia|Elevated cerebrospinal fluid protein|Elevated csf protein|Increased protein in csf|Cerebrospinal fluid protein increased UMLS:C1806780 human_phenotype owl:Class N9368a684a57a46e88dc0fc9b31742e94 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N32136a40d0e6452997a36a9acca79feb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001728 biolink:NamedThing nasopharynx The section of the pharynx that lies above the soft palate. tmpxe7fu0cj_hp_relaxed.owl rhinopharynx|nasal part of pharynx|Nasenrachenraum|epipharynx|pars nasalis pharyngis UMLS:C0027442|OpenCyc:Mx4rwUPoDJwpEbGdrcN5Y29ycA|EMAPA:17670|VHOG:0000375|BTO:0000662|EV:0100066|MESH:A03.867.557|MAT:0000447|EHDAA2:0001239|EHDAA:7086|GAID:339|MA:0000443|FMA:54878|NCIT:C12423|CALOHA:TS-0663 Illu:pharynx.jpg uberon owl:Class The uppermost of the three regions of the throat (pharynx), situated behind the nasal cavity and extending from the posterior nares to the level above the soft palate. [TFD][VHOG] nasopharyngeal In humans - in front it communicates through the choanae with the nasal cavities. On its lateral wall is the pharyngeal ostium of the auditory tube, somewhat triangular in shape, and bounded behind by a firm prominence, the torus tubarius or cushion, caused by the medial end of the cartilage of the tube which elevates the mucous membrane CHEBI:30745 biolink:NamedThing phenylacetic acid A monocarboxylic acid that is toluene in which one of the hydrogens of the methyl group has been replaced by a carboxy group. tmpxe7fu0cj_hp_relaxed.owl Omega-Phenylacetic acid|alpha-toluic acid|Benzylformic acid|benzeneacetic acid|omega-phenylacetic acid|phenylacetic acid|Benzeneacetic acid|2-Phenylethanoic acid|2-PHENYLACETIC ACID|PA|Phenylacetic acid 0 C8H8O2 InChI=1S/C8H8O2/c9-8(10)6-7-4-2-1-3-5-7/h1-5H,6H2,(H,9,10) WLJVXDMOQOGPHL-UHFFFAOYSA-N 136.14792 136.05243 OC(=O)Cc1ccccc1 PMID:7716788|PMID:12569987|PMID:2083978|HMDB:HMDB0000209|KEGG:C07086|ECMDB:ECMDB04128|MetaCyc:PHENYLACETATE|PMID:24631718|KNApSAcK:C00000750|PMID:24587751|PDBeChem:PAC|Drug_Central:4624|CAS:103-82-2|PMID:15646820|PMID:15506622|Gmelin:68976|PMID:17622769|YMDB:YMDB00891|Wikipedia:Phenylacetic_acid|Beilstein:1099647|PMID:7544181|PMID:12147706|Reaxys:1099647|PMID:15057459 CHEBI:8085|CHEBI:25977|CHEBI:44686 chebi_ontology owl:Class N782346224b4f444db9d7aa41e5e76030 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001686 biolink:NamedThing auditory ossicle bone One of 3 small bones contained within the middle ear space and serve to transmit sounds from the air to the fluid-filled labyrinth. The absence of the auditory ossicles would constitute a moderate-to-severe hearing loss. The term 'ossicles' literally means 'tiny bones' and commonly refers to the auditory ossicles, though the term may refer to any small bone throughout the body. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl ossicle of inner ear|auditory bone|ossicular chain|ossicle|ossicle of ear|middle ear ossicle|auditory ossicle|middle ear bone|ear ossicles|ear ossicle|ear bone EV:0100360|EHDAA:5697|UMLS:C0013450|FMA:52750|AAO:0011015|EMAPA:17824|EHDAA2:0001183|VHOG:0000461|XAO:0000214|MA:0000254|NCIT:C32164 http://upload.wikimedia.org/wikipedia/commons/b/b0/Illu_auditory_ossicles.jpg This should probably be restricted to mammals - the AAO/XAO structures may group non-homologous structures [Wikipedia:Evolution_of_mammalian_auditory_ossicles] see https://github.com/seger/aao/issues/5. uberon owl:Class The small bones of the middle ear: incus, malleus, and stapes. [TFD][VHOG] Additional structural analysis within a phylogenetic context has led to the remarkable discovery that in synapsids, thought to be ancestral to mammals, both the quadrate and articular have become reduced and less firmly articulated with their surrounding bones, reducing their jaw-joint-bearing role. This trend culminated with the incorporation of the quadrate, the columella (which remains articulated with the quadrate), and the articular into the expanded middle ear in mammals.[well established][VHOG] Studies have shown that ear bones in mammal embryos are attached to the dentary, which is part of the jaw. These are ossified portions of cartilage -- called Meckel's cartilage -- that are attached to the jaw. As the embryo develops, the cartilage hardens to form bone. Later in development, the bone structure breaks loose from the jaw and migrates to the inner ear area. The structure is known as the middle ear, and is made up of the incus, stapes, malleus, and tympanic membrane. These correspond to the quadrate, prearticular, articular, and angular structures in the reptile jaw. For this reason, researchers believe the similarity of the results shows that mammals and reptiles have a common ancestry. GO:1902463 biolink:NamedThing protein localization to cell leading edge A process in which a protein is transported to, or maintained in, a location within a cell leading edge. tmpxe7fu0cj_hp_relaxed.owl protein localisation in cell leading edge|protein localization in cell leading edge|protein localisation to cell leading edge jl 2013-10-22T12:36:07Z biological_process owl:Class NCBITaxon:131567 biolink:NamedThing cellular organisms tmpxe7fu0cj_hp_relaxed.owl biota GC_ID:1 ncbi_taxonomy owl:Class N1a445be3729949408c5db8c21bc7720c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003667 biolink:NamedThing lower jaw molar A molar tooth that is part of a lower jaw [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lower molar tooth|lower molar|molar tooth of lower jaw|lower jaw molar tooth EMAPA:17921|NCIT:C49584|EHDAA:8017|FMA:290267|MA:0001602|UMLS:C1708756|EHDAA2:0001025 uberon owl:Class UBERON:0000166 biolink:NamedThing oral opening The orifice that connects the mouth to the exterior of the body. tmpxe7fu0cj_hp_relaxed.owl mouth|oral fissure|oral orifice|oral part of face FMA:59806 uberon owl:Class (...) mouth development is very similar in protostomes and 'basal' deuterostomes, whereas the chordate mouth seems to develop at a new position. Recent data for echinoderms and hemichordates further suggest that this change in mouth position may result from change in the influence of a conserved ectodermal patterning system on mouth development. It has been suggested that the mouths of vertebrates and urochordates may constitute a 'new' mouth.[well established][VHOG] N8445102d61c944f99c96d30ede519365 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410183 biolink:NamedThing Abnormal glucose-6-phosphate dehydrogenase level in leukocytes An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes. tmpxe7fu0cj_hp_relaxed.owl Abnormal G6PD level in leukocytes 2018-05-21 18:00:54+00:00 owl:Class Nd590035d73c34280a1fa6870b14c4ef5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb9ded3a3851548e6a1f4266f0740a034 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N23a740e7f5504613b3c7ba295bd2593b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb45b00b1620b419f880caeef5037e004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N413408963b65489c9fcd1da1a03801bd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009169 biolink:NamedThing Broad middle phalanx of the 5th finger Increased width of the middle phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Broad middle bone of pinky finger|Broad middle bone of little finger|Broad middle bone of pinkie finger|Wide middle phalanx of the 5th finger UMLS:C4021517 peter 2008-12-29T02:49:04Z human_phenotype owl:Class Nc8939174ddb648c0930791c59ac5c162 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100080 biolink:NamedThing Enlarged epiphyses of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the little toe bone|Enlarged end part of the pinky toe bone|Enlarged end part of the pinkie toe bone UMLS:C4022341 doelkens 2010-06-24T10:00:02Z human_phenotype owl:Class Naa652c34ca9c459988c2e451decff0f6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021533 biolink:NamedThing cell differentiation in hindbrain The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mature cells of the hindbrain. Differentiation includes the processes involved in commitment of a cell to a specific fate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0030902 biolink:NamedThing hindbrain development The process whose specific outcome is the progression of the hindbrain over time, from its formation to the mature structure. The hindbrain is the posterior of the three primary divisions of the developing chordate brain, or the corresponding part of the adult brain (in vertebrates, includes the cerebellum, pons, and medulla oblongata and controls the autonomic functions and equilibrium). tmpxe7fu0cj_hp_relaxed.owl rhombencephalon development biological_process owl:Class HP:0001043 biolink:NamedThing Prominent scalp veins tmpxe7fu0cj_hp_relaxed.owl Prominent scalp veins UMLS:C1856542 human_phenotype owl:Class Nc53e4934860145b89833b57515c34644 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002114 biolink:NamedThing duodenum The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one). tmpxe7fu0cj_hp_relaxed.owl upper intestine|proximal intestine VHOG:0000052|MESH:A03.492.411.620.270|galen:Duodenum|AAO:0010402|EMAPA:18852|CALOHA:TS-0214|FMA:7206|MA:0000338|EFO:0000851|XAO:0000236|BTO:0000365|MAT:0000044|NCIT:C12263|UMLS:C0013303|EV:0100073|GAID:284|OpenCyc:Mx4rv4LJDpwpEbGdrcN5Y29ycA|MIAA:0000044 http://upload.wikimedia.org/wikipedia/commons/b/b3/Tractus_intestinalis_duodenum.svg uberon owl:Class The fixed portion of the small intestine deeply lodged in the posterior wall of the abdomen and extending from the pylorus to the beginning of the jejunum. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] duodenal In fish, the divisions of the small intestine are not as clear, and the terms anterior intestine or proximal intestine may be used instead of duodenum.|In humans, the duodenum is a hollow jointed tube about 10-15 inches (25-38 centimetres) long connecting the stomach to the jejunum. It begins with the duodenal bulb and ends at the ligament of Treitz. CHEBI:30623 biolink:NamedThing oxalate(2-) A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of oxalic acid. tmpxe7fu0cj_hp_relaxed.owl ethanedioate|ethanedioic acid, ion(2-)|ox|oxalate|OXALATE ION -2 C2O4 InChI=1S/C2H2O4/c3-1(4)2(5)6/h(H,3,4)(H,5,6)/p-2 MUBZPKHOEPUJKR-UHFFFAOYSA-L 88.01900 87.98076 [O-]C(=O)C([O-])=O UM-BBD_compID:c0017|CAS:338-70-5|Gmelin:2207|KEGG:C00209|Beilstein:1905970|Reaxys:1905970|PDBeChem:OXL CHEBI:25729|CHEBI:14702|CHEBI:44820 chebi_ontology owl:Class CHEBI:46904 biolink:NamedThing oxalate(1-) A dicarboxylic acid monoanion that is the conjugate base of oxalic acid. tmpxe7fu0cj_hp_relaxed.owl hydrogen ethanedioate|Hox|hydrogen oxalate|carboxyformate -1 C2HO4 InChI=1S/C2H2O4/c3-1(4)2(5)6/h(H,3,4)(H,5,6)/p-1 MUBZPKHOEPUJKR-UHFFFAOYSA-M 89.02694 88.98803 OC(=O)C([O-])=O Gmelin:49515|Beilstein:3601755 chebi_ontology owl:Class CL:0000542 biolink:NamedThing lymphocyte A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-0583|VHOG:0001535|BTO:0000775|FMA:62863 Editors note: consider adding taxon constraint to vertebrata (PMID:18025161) cell owl:Class Nd53eb8d383644227bcd48da1545868b2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005602 biolink:NamedThing dorsal mesogastrium The portion of mesentery attached to the greater curvature of the stomach is named the dorsal mesentery (or dorsal mesogastrium, when referring to the portion at the stomach), and the part which suspends the colon is termed the mesocolon. The dorsal mesogastrium develops into the greater omentum. tmpxe7fu0cj_hp_relaxed.owl dorsal mesentery UMLS:C1512038|EMAPA:17025|VHOG:0000352|EHDAA2:0000416|MA:0001618|EHDAA:3001|NCIT:C34142 uberon owl:Class The dorsal sheet of the primitive mesentery that encloses the stomach. The greater omentum develops from the dorsal mesogastrium. [TFD][VHOG] UBERON:0000376 biolink:NamedThing hindlimb stylopod The part of the hindlimb between pelvis and the knee, corresponding to the femur. tmpxe7fu0cj_hp_relaxed.owl femur|hindlimb stylopodium|stylopod of hindlimb|hindlimb propodium|hindlimb stylopod|hind propodium|hind limb stylopodium|stylopod of hind limb|stylopod of lower limb|thigh|hind limb stylopod|proximal segment of free lower limb|upper leg VHOG:0000349|FMA:24967|NCIT:C33763|MA:0000052|GAID:50|MESH:D013848|CALOHA:TS-2039|EHDAA:5171|galen:Thigh|EFO:0001943|EHDAA2:0002130|EHDAA:6200|BTO:0001376|EMAPA:17499|OpenCyc:Mx4rvVjN7JwpEbGdrcN5Y29ycA|UMLS:C0039866 http://upload.wikimedia.org/wikipedia/commons/4/4b/Gray1238.png uberon owl:Class Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] Naming conventions for pod terms under discussion within phenoscape group. UBERON:0005792 biolink:NamedThing nephric ridge Nephric tubules (nephrons) form embryonically along the nephric ridge. The ridge comprises three regions; anterior, middle and posterior. The functional kidney uses nephrons from only one or two regions of the ridge. A pronephric kidney uses only the nephrons from the anterior region of the ridge. A mesonephric kidney uses only the middle region, a metanephric kidney uses only the posterior region and an opisthonephric kidney uses the middle and posterior regions. tmpxe7fu0cj_hp_relaxed.owl nephric cord EHDAA2:0001242|VHOG:0001240|EMAPA:16368|EHDAA:1015 TODO - check ridge vs cord vs nephrogenic cord vs blastema uberon owl:Class HP:0006433 biolink:NamedThing Radial dysplasia Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia. tmpxe7fu0cj_hp_relaxed.owl Radial longitudinal deficiency|Dysplastic radii UMLS:C4025046 owl:Class N2659f9ffef5041729ba58aef37476c03 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0007598 biolink:NamedThing blood coagulation, extrinsic pathway A protein activation cascade that contributes to blood coagulation and consists of the self-limited process linking exposure and activation of tissue factor to the activation of clotting factor X. tmpxe7fu0cj_hp_relaxed.owl See also the biological process term 'blood coagulation, intrinsic pathway ; GO:0007597'. biological_process owl:Class HP:0009665 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the thumb An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of thumb innermost long bone UMLS:C4024252 doelkens 2009-01-30T09:17:13Z human_phenotype owl:Class Nb7b36c594016433985fb41646720d83a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010221 biolink:NamedThing laryngeal associated mesenchyme tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004085 Many sources say: thyroid cartilage from arch 4 other laryngeal cartilage (cricoid/arytenoid) from 6? uberon owl:Class UBERON:0003115 biolink:NamedThing pharyngeal arch 4 Contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus. tmpxe7fu0cj_hp_relaxed.owl 4th arch|visceral arch 4|fourth pharyngeal arch|fourth visceral arch|second gill arch|branchial arch 2|4th pharyngeal arch|4th visceral arch|second branchial arch|gill arch 2|4th branchial arch TAO:0001599|SCTID:308770007|VHOG:0000299|AAO:0010366|EHDAA:1663|ZFA:0001607|XAO:0000449|EHDAA2:0000086|FMA:293035|EMAPA:16760 uberon owl:Class The second pharyngeal/branchial arch; arises as a thickening of the pharygeal wall between the first and second branchial clefts; contains the second aortic arch; forms part of the hyoid bone, tongue and facial musculature.[AAO] A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] in XAO, called branchial arch 2 and df VP4 4 UBERON:0007475 biolink:NamedThing matrix-based tissue A tissue whose predominant feature is extracellular matrix which may or may not be highly hydrated or calcified. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0003081|AEO:0000081 EHDAA2:0003081 uberon owl:Class GO:0031012 biolink:NamedThing extracellular matrix A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. tmpxe7fu0cj_hp_relaxed.owl proteinaceous extracellular matrix|matrisome NIF_Subcellular:nlx_subcell_20090513|Wikipedia:Extracellular_matrix GO:0005578 cellular_component owl:Class HP:0010837 biolink:NamedThing Decreased circulating ceruloplasmin concentration Decreased concentration of ceruloplasmin in the blood. tmpxe7fu0cj_hp_relaxed.owl Hypoceruloplasminaemia|Decreased serum ceruloplasmin|Decreased serum ceruloplasminA|Hypoceruloplasminemia UMLS:C0240997 Ceruloplasmin is the major copper-carrying protein in the serum. Decreased serum ceruloplasmin levels can indicate other defects in copper metabolism. peter 2010-07-10T07:39:36Z owl:Class Nff23d2169e7946d09a849fb62d7a610b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:37054 biolink:NamedThing 3-hydroxybutyrate A hydroxy fatty acid anion that is the conjugate base of 3-hydroxybutyric acid, obtained by deprotonation of the carboxy group; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl beta-hydroxy-n-butyrate|DL-3-hydroxybutyrate|3-OH butyrate|3-OH-butyrate|beta-hydroxybutanoate|3-hydroxybutanoate -1 C4H7O3 InChI=1S/C4H8O3/c1-3(5)2-4(6)7/h3,5H,2H2,1H3,(H,6,7)/p-1 WHBMMWSBFZVSSR-UHFFFAOYSA-M 103.09658 103.04007 CC(O)CC([O-])=O Beilstein:4127635|Reaxys:4127635 chebi_ontology owl:Class CHEBI:24329 biolink:NamedThing glutarate A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of glutaric acid. tmpxe7fu0cj_hp_relaxed.owl glutarates|glutarate anion|glutaric acid anion chebi_ontology owl:Class UBERON:0000979 biolink:NamedThing tibia The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]. tmpxe7fu0cj_hp_relaxed.owl shinbone|shankbone EMAPA:19142|MA:0001361|OpenCyc:Mx4rvtq3-ZwpEbGdrcN5Y29ycA|EFO:0003054|NCIT:C12800|UMLS:C0040184|MESH:A02.835.232.500.883|GAID:204|galen:Tibia|FMA:24476|BTO:0001252|AAO:0000890|CALOHA:TS-1048 http://upload.wikimedia.org/wikipedia/commons/2/2a/Gray260.png uberon owl:Class One of the two long bones of endochondral origin of the hind-epipodium; it is a straight, simple bone whose section is more or less rectangular at the ends and circular at its central portion.[AAO] UBERON:0035639 biolink:NamedThing ocular adnexa The parts of the orbital region that are outside of the the eyeball, including the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. tmpxe7fu0cj_hp_relaxed.owl accessory parts of orbital region|structurae oculi accessoriae|adnexa oculi|set of accessory visual structures|appendages of the eye|accessory visual structures|adnexal parts of orbital region|accessory visual structures set|appendage of eye|eye adnexa NCIT:C32574|Wikipedia:Accessory_visual_structures|UMLS:C0229243|FMA:76554|SCTID:120612006 uberon owl:Class CHEBI:33019 biolink:NamedThing diphosphate(3-) A trivalent inorganic anion obtained by removal of all three protons from diphosphoric acid. tmpxe7fu0cj_hp_relaxed.owl HP2O7(3-)|diphosphate|hydrogen diphosphate -3 HO7P2 InChI=1S/H4O7P2/c1-8(2,3)7-9(4,5)6/h(H2,1,2,3)(H2,4,5,6)/p-3 XPPKVPWEQAFLFU-UHFFFAOYSA-K 174.95126 174.92140 OP([O-])(=O)OP([O-])([O-])=O Beilstein:185088 chebi_ontology owl:Class GO:0023019 biolink:NamedThing signal transduction involved in regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another. tmpxe7fu0cj_hp_relaxed.owl regulation of gene expression as a consequence of signal transmission 2010-02-16T09:30:50Z biological_process owl:Class GO:0005773 biolink:NamedThing vacuole A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. tmpxe7fu0cj_hp_relaxed.owl vacuolar carboxypeptidase Y Wikipedia:Vacuole cellular_component owl:Class GO:0043009 biolink:NamedThing chordate embryonic development The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0003846 biolink:NamedThing thymus epithelium An epithelium that is part of a thymus, forming a supporting framework[MP,modified]. tmpxe7fu0cj_hp_relaxed.owl thymic epithelium|epithelial tissue of thymus gland|epithelial tissue of thymus|thymus gland epithelial tissue|epithelium of thymus gland|thymus epithelial tissue|thymus gland epithelium|thymic epithelial tissue|epithelium of thymus CALOHA:TS-1040|NCIT:C45713|EHDAA2:0002019|VHOG:0001426|BTO:0001836|EMAPA:35864|UMLS:C1711423|MA:0000768|ZFA:0005779 uberon owl:Class UBERON:0005700 biolink:NamedThing upper jaw molar odontogenic papilla An odontogenic papilla that is part of a upper jaw molar. tmpxe7fu0cj_hp_relaxed.owl upper jaw molar dental papilla|upper molar mesenchyme EHDAA:8051|EMAPA:17944|EHDAA2:0002127 uberon owl:Class UBERON:0010334 biolink:NamedThing maxillary process mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a maxillary process mesenchyme. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004601 uberon owl:Class CHEBI:29340 biolink:NamedThing hydridonitrate(2-) A divalent inorganic anion resulting from the removal of two protons from ammonia. tmpxe7fu0cj_hp_relaxed.owl hydridonitrate(2-)|imide|NH(2-)|azanediide -2 HN InChI=1S/HN/h1H/q-2 DZQYTNGKSBCIOE-UHFFFAOYSA-N 15.01468 15.01200 [N--][H] chebi_ontology owl:Class GO:1901738 biolink:NamedThing regulation of vitamin A metabolic process Any process that modulates the frequency, rate or extent of vitamin A metabolic process. tmpxe7fu0cj_hp_relaxed.owl regulation of vitamin A metabolism dph 2013-01-11T15:29:43Z biological_process owl:Class UBERON:0001891 biolink:NamedThing midbrain The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]. tmpxe7fu0cj_hp_relaxed.owl mesencephalon|MB ZFA:0000128|FMA:61993|CALOHA:TS-0630|TAO:0000128|SCTID:279099009|MIAA:0000106|AAO:0010149|HBA:9001|BTO:0000138|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=462|DMBA:16649|MBA:313|EHDAA:3694|VHOG:0000069|OpenCyc:Mx4rvsBUqpwpEbGdrcN5Y29ycA|BAMS:MES|EFO:0000919|MESH:D008636|EMAPA:16974|BM:MB|EV:0100242|MA:0000207|Wikipedia:Midbrain|DHBA:10648|MAT:0000106|BIRNLEX:1667|EHDAA2:0001162|RETIRED_EHDAA2:0001104|XAO:0000014|NCIT:C12510|UMLS:C0025462 http://upload.wikimedia.org/wikipedia/commons/f/f9/Human_brain_inferior_view_description.JPG developmental relationships need revised uberon owl:Class The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally. Kimmel et al, 1995.[TAO]|Middle part of the brain composed of the optic tectum and penducular region.[AAO] Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG] mesencephalic part of brainstem in ABA - we reject this in favor of ISBN:0471888893 which has an implicit overlaps relationships UBERON:0001046 biolink:NamedThing hindgut The caudalmost subdivision of a digestive tract. tmpxe7fu0cj_hp_relaxed.owl metenteron BILA:0000087|EHDAA:975|TGMA:0001020|EMAPA:16715|XAO:0000104|BTO:0000510|FMA:45618|NCIT:C34188|UMLS:C0231053|AAO:0011052|VHOG:0000459|FBbt:00005384|MA:0001527|EHDAA2:0000779 http://upload.wikimedia.org/wikipedia/commons/f/f7/Gray472.png Note we define this generically to include invertebrates (partly for consistency with GO), but the class may be split in future (vertebrates have some contribution from NC - https://github.com/obophenotype/uberon/wiki/The-neural-crest). We may explicitly make this a developmental class uberon owl:Class the caudal portion of the primitive digestive tube of the embryo The bilaterian gut is typically a complete tube that opens to the exterior at both ends. It consists of mouth, foregut, midgut, hindgut, and anus (reference 1); Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut (reference 2).[well established][VHOG] in FMA this class has no children. In MA it has a single child hindgut epithelium HP:0006646 biolink:NamedThing Costal cartilage calcification Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax. tmpxe7fu0cj_hp_relaxed.owl Cartilaginous ossification of rib UMLS:C1855608 HP:0006662 human_phenotype owl:Class N82ea59432ce44a069996290e0f509a6e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003681 biolink:NamedThing masticatory muscle In humans: Muscles arising in the zygomatic arch that close the jaw. Their nerve supply is masseteric from the mandibular division of the trigeminal nerve. (From Stedman, 25th ed). tmpxe7fu0cj_hp_relaxed.owl jaw muscle|musculi masticatorii|muscle of mastication UMLS:C0024890|MESH:D008410|NCIT:C33147|GAID:145|MA:0003115|FMA:74060 we use this specifically for a jaw muscle that is innervates by the mandibular nerve. http://upload.wikimedia.org/wikipedia/commons/4/4d/Gray781.png uberon owl:Class originate from the somitomeres. These muscles develop late and are not complete even at birth. Tongue muscles develop before masticatory muscles and complete by birth HP:0041146 biolink:NamedThing Fractured coccyx A partial or complete breakage of the coccyx. tmpxe7fu0cj_hp_relaxed.owl bone coccyx owl:Class Ne7e617d531da4f4b87c882fc1ee3ff51 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001605 biolink:NamedThing ciliary muscle The ciliary muscle is a ring of smooth muscle in the middle layer of the eye that controls the eye's accommodation for viewing objects at varying distances and regulates the flow of aqueous humour through Schlemm's canal. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl Bowman`s muscles|ciliaris|musculus ciliarus|musculus ciliaris Wikipedia:Ciliary_muscle|UMLS:C0559230|BTO:0000654|MA:0001269|SCTID:280862009|EMAPA:35240|FMA:49151|NCIT:C32315 http://upload.wikimedia.org/wikipedia/commons/2/28/Gray872.png uberon owl:Class UBERON:0006524 biolink:NamedThing alveolar system System pertaining to a bronchus and alveoli. tmpxe7fu0cj_hp_relaxed.owl pulmonary alveolar system|bronchoalveolar system BTO:0000136|EMAPA:32692|MA:0000416|CALOHA:TS-1296 uberon owl:Class UBERON:0001709 biolink:NamedThing upper jaw region Subdivision of head that consists of the upper jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm]. tmpxe7fu0cj_hp_relaxed.owl dorsal mandibular arch|upper pharyngeal jaws|alveolodental arch of bimaxilla|maxillary part of mouth proper|dorsal pharyngeal arch 1|maxillary part of mouth|palatoquadrate arch AAO:0000620|EMAPA:17924|EHDAA2:0002118|FMA:59399|EHDAA:8025|EHDAA2:0004607|VHOG:0000454|ncithesaurus:Upper_Jaw See notes for jaw w.r.t skeletal element vs subdivision of head. http://upload.wikimedia.org/wikipedia/commons/a/a7/Gray189.png uberon owl:Class Superior maxillary arch located on the anterior and lateral sides of the skull.[AAO] Subsequent vertebrate evolution has also involved major alterations to the pharynx; perhaps the most notable occurred with the evolution of the gnathostomes. This involved substantial modifications to the most anterior pharyngeal segments, with the jaw forming from the first, anterior, pharyngeal segment, while the second formed its supporting apparatus, the hyoid.[well established][VHOG] Note isa/partof difference MA/FMA UBERON:0007196 biolink:NamedThing tracheobronchial tree The structure from the trachea, bronchi, and bronchioles that forms the airways that supply air to the lungs. The lining of the tracheobronchial tree consists of ciliated columnar epithelial cells. tmpxe7fu0cj_hp_relaxed.owl tracheobronchial system|arbor tracheobronchialis FMA:7393|NCIT:C117875 UBERON:0004102 uberon owl:Class CL:2000013 biolink:NamedThing fibroblast of skin of abdomen Any skin fibroblast that is part of a skin of abdomen. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-06-04T15:18:16Z cell owl:Class UBERON:0001416 biolink:NamedThing skin of abdomen A zone of skin that is part of an abdomen [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl zone of skin of abdomen|abdominal skin|abdomen zone of skin|abdomen skin|skin of abdomen proper NCIT:C52758|MA:0000523|FMA:22988|EFO:0000214|SCTID:361707007|UMLS:C0222166|FMA:23000 uberon owl:Class HP:0004363 biolink:NamedThing Abnormal circulating calcium concentration Any deviation from the normal concentration of calcium in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating Ca2+ concentration|Abnormal circulating Ca concentration|Abnormal blood calcium concentration|Abnormal blood calcium levels peter 2008-03-17T04:15:00Z HP:0040077 owl:Class Na85c7973c5f74924a050607442124dbc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0061462 biolink:NamedThing protein localization to lysosome A process in which a protein is transported to, or maintained in, a location within a lysosome. tmpxe7fu0cj_hp_relaxed.owl dph 2012-10-05T10:50:51Z biological_process owl:Class HP:0003469 biolink:NamedThing Peripheral dysmyelination Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025610 human_phenotype owl:Class Nac56331df3a74a22b96ddc29102b0917 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:75771 biolink:NamedThing mouse metabolite Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus). tmpxe7fu0cj_hp_relaxed.owl mouse metabolites|Mus musculus metabolites|Mus musculus metabolite chebi_ontology owl:Class GO:0014887 biolink:NamedThing cardiac muscle adaptation The process in which cardiac muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. tmpxe7fu0cj_hp_relaxed.owl cardiac muscle plasticity biological_process owl:Class UBERON:0002026 biolink:NamedThing stratum spinosum of epidermis The layer of polyhedral cells in the epidermis found between the stratum granulosum and stratum basale; shrinkage and adhesion of these cells gives a spiny or prickly appearance. tmpxe7fu0cj_hp_relaxed.owl stratum Malpighii|Malpighian layer|epidermis stratum spinosum|prickle cell layer|stratum spinosum|epidermis prickle cell layer|prickle cell layer of epidermis|squamous cell layer of epidermis NCIT:C12850|BTO:0000435|UMLS:C0221924|MA:0000807|FMA:67542|EMAPA:32785 uberon owl:Class Has cells that produce and secrete bipolar lipids which prevent evaporation, helping to 'water-proof' the skin. Keratinization begins in the stratum spinosum. [Wikipedia:Stratum_spinosum] UBERON:0009564 biolink:NamedThing distal limb integumentary appendage A nail, hoof or claw. tmpxe7fu0cj_hp_relaxed.owl keratin sheath|hoof or claw|unguis|keratin plate|hoof, claw or nail MESH:D006724 uberon owl:Class CHEBI:28044 biolink:NamedThing phenylalanine An aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group. tmpxe7fu0cj_hp_relaxed.owl 2-amino-3-phenylpropanoic acid|Phenylalanine|F|phenylalanine|DL-Phenylalanine|Phenylalanin|PHE|alpha-Amino-beta-phenylpropionic acid|fenilalanina 0 C9H11NO2 InChI=1S/C9H11NO2/c10-8(9(11)12)6-7-4-2-1-3-5-7/h1-5,8H,6,10H2,(H,11,12) COLNVLDHVKWLRT-UHFFFAOYSA-N 165.18918 165.07898 NC(Cc1ccccc1)C(O)=O PMID:22264337|KEGG:C02057|Wikipedia:Phenylalanine|Gmelin:50836|Reaxys:1910407|CAS:150-30-1|PMID:17439666|Beilstein:1910407 CHEBI:8089|CHEBI:25984 chebi_ontology owl:Class HP:0009200 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 5th finger A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024540 doelkens 2009-01-05T05:10:13Z owl:Class N74173f7710e84977844bdae9d71ec669 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:32531 biolink:NamedThing histidinium(1+) tmpxe7fu0cj_hp_relaxed.owl histidinium|histidine monocation|histidinium(1+)|2-ammonio-3-(1H-imidazol-3-ium-4-yl)propanoate +1 C6H10N3O2 InChI=1S/C6H9N3O2/c7-5(6(10)11)1-4-2-8-3-9-4/h2-3,5H,1,7H2,(H,8,9)(H,10,11)/p+1 HNDVDQJCIGZPNO-UHFFFAOYSA-O 156.16262 156.07675 [NH3+]C(Cc1c[nH]c[nH+]1)C([O-])=O chebi_ontology owl:Class CHEBI:27570 biolink:NamedThing histidine An alpha-amino acid that is propanoic acid bearing an amino substituent at position 2 and a 1H-imidazol-4-yl group at position 3. tmpxe7fu0cj_hp_relaxed.owl DL-Histidine|histidine|histidina|Histidine|alpha-Amino-1H-imidazole-4-propionic acid|2-amino-3-(1H-imidazol-4-yl)propanoic acid|Histidin 0 C6H9N3O2 InChI=1S/C6H9N3O2/c7-5(6(10)11)1-4-2-8-3-9-4/h2-3,5H,1,7H2,(H,8,9)(H,10,11) HNDVDQJCIGZPNO-UHFFFAOYSA-N 155.15468 155.06948 NC(Cc1c[nH]cn1)C(O)=O Wikipedia:Histidine|Reaxys:84087|KNApSAcK:C00001363|PMID:29286160|KEGG:C00768|PMID:17190852|CAS:4998-57-6|Beilstein:84087|PMID:22264337|PMID:22770225|Gmelin:3656 CHEBI:5733|CHEBI:24598|CHEBI:43118 chebi_ontology owl:Class N64e43fbea99e4bb9a61a7d32676e2b97 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:16135 biolink:NamedThing isobutyric acid A branched fatty acid comprising propanoic acid carrying a methyl branch at C-2. tmpxe7fu0cj_hp_relaxed.owl isobutanoic acid|2-METHYL-PROPIONIC ACID|2-Methylpropionsaeure|Isobutanoate|ISOBUTYRIC ACID|2-Methylpropanoate|isopropylformic acid|2-Methylpropanoic acid|Dimethylacetic acid|Isobuttersaeure|alpha-isobutyric acid|2,2-dimethylacetic acid|alpha-methylpropanoic acid|iso-butyric acid|alpha-methylpropionic acid|Isobutyrate|iso-C3H7COOH|2-methylpropanoic acid|Isobutyric acid 0 C4H8O2 InChI=1S/C4H8O2/c1-3(2)4(5)6/h3H,1-2H3,(H,5,6) KQNPFQTWMSNSAP-UHFFFAOYSA-N 88.10512 88.05243 CC(C)C(O)=O PMID:10757489|Gmelin:49630|MetaCyc:ISOBUTYRATE|BPDB:3128|KEGG:C02632|Reaxys:635770|CAS:79-31-2|Wikipedia:Isobutyric_acid|PMID:17580301|DrugBank:DB02531|UM-BBD_compID:c0383|LIPID_MAPS_instance:LMFA01020071|HMDB:HMDB0001873|PPDB:3128|PDBeChem:ALQ|Beilstein:635770|KNApSAcK:C00029462|PMID:17877388 CHEBI:43397|CHEBI:1212|CHEBI:25337|CHEBI:40653|CHEBI:19710 chebi_ontology owl:Class HP:0001634 biolink:NamedThing Mitral valve prolapse One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. tmpxe7fu0cj_hp_relaxed.owl Fyler:1533|UMLS:C0026267|MSH:D008945|SNOMEDCT_US:8074002|SNOMEDCT_US:409712001 Mitral valve prolapse can be associated with mitral regurgitation. human_phenotype owl:Class N01820d7f27a244eeb02f39aa072ab251 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nda34041a46824026be5f5698af082ad3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030262 biolink:NamedThing Narrow penis Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age. tmpxe7fu0cj_hp_relaxed.owl Narrow penis UMLS:C4022552 Penile width is the distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis. owl:Class Nfdb0a5590477445781f3da4a307dd931 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:15361 biolink:NamedThing pyruvate A 2-oxo monocarboxylic acid anion that is the conjugate base of pyruvic acid, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl pyruvate|2-oxopropanoate|2-oxopropanoic acid, ion(1-) -1 C3H3O3 InChI=1S/C3H4O3/c1-2(4)3(5)6/h1H3,(H,5,6)/p-1 LCTONWCANYUPML-UHFFFAOYSA-M 87.05412 87.00877 CC(=O)C([O-])=O Beilstein:3587721|PMID:22311625|PMID:22458763|PMID:22016370|PMID:21823181|PMID:22006570|KEGG:C00022|PMID:22215378|Gmelin:2502|Reaxys:3587721|PMID:21854850|PMID:22451307|UM-BBD_compID:c0159|PMID:17190852|CAS:57-60-3|PMID:21603897 CHEBI:26462|CHEBI:14987 chebi_ontology owl:Class CHEBI:17272 biolink:NamedThing propionate The conjugate base of propionic acid; a key precursor in lipid biosynthesis. tmpxe7fu0cj_hp_relaxed.owl propanoate|CH3-CH2-COO(-)|propanoic acid, ion(1-)|metacetonate|methylacetate|carboxylatoethane|propanate|ethylformate|pseudoacetate|propionate|EtCO2 anion|ethanecarboxylate -1 C3H5O2 InChI=1S/C3H6O2/c1-2-3(4)5/h2H2,1H3,(H,4,5)/p-1 XBDQKXXYIPTUBI-UHFFFAOYSA-M 73.07060 73.02950 CCC([O-])=O Beilstein:3587503|KEGG:C00163|CAS:72-03-7|PMID:2647392|PMID:17951291|Gmelin:1820|UM-BBD_compID:c0277|PMID:18375549 CHEBI:26290|CHEBI:14903 chebi_ontology owl:Class HP:0000225 biolink:NamedThing Gingival bleeding Hemorrhage affecting the gingiva. tmpxe7fu0cj_hp_relaxed.owl Gingival hemorrhage|Bleeding gums|Gingival haemorrhage|Gingivorrhagia MSH:D005884|UMLS:C0017565|SNOMEDCT_US:86276007 HP:0000167 human_phenotype owl:Class Ncf0c15723f51414b8b5b2a93a50be98d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006887 biolink:NamedThing Intellectual disability, progressive The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time. tmpxe7fu0cj_hp_relaxed.owl Intellectual disability, progressive|Mental retardation, progressive|Progressive mental retardation UMLS:C1846149 HP:0006924|HP:0007044|HP:0007243|HP:0007025|HP:0001261 human_phenotype owl:Class N37a5fcbae7e44682a12736545cdfcff5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncfb590de57a4421cbb1e867cbda268aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003823 biolink:NamedThing hindlimb zeugopod The middle limb segment of the pelvic free limb, between the autopod and stylopod segments. Includes as parts the hindlimb zeugopodial skeleton, which includes as parts the tibia and fibula, or their cartilage precursors, or evolutionary variants. tmpxe7fu0cj_hp_relaxed.owl zeugopod of hind limb|regio cruris posterior|hindlimb zeugopodium|shank|lower extremity zeugopod|middle limb segment of hindlimb|calf of leg|hindlimb zeugopod|intermediate segment of free lower limb|crus|calf|posterior region of leg|crus of hindlimb|posterior curral region|hind limb middle limb segment|sura|sural region|posterior part of leg|lower extremity middle limb segment|regio surae|posterior leg region|zeugopod of hindlimb|leg|lower leg|hindlimb zeudopodium|hind limb zeugopod|hindlimb middle limb segment|hindlimb epipodium|middle limb segment of hind limb|hind limb zeudopodium|hind epipodium VSAO:0005060|EHDAA:6190|OpenCyc:Mx4rvczZBpwpEbGdrcN5Y29ycA|EHDAA:5165|galen:Leg|FMA:24979|UMLS:C1140621|EHDAA2:0001030|MA:0000051|NCIT:C32974|FMA:24984|EMAPA:17496|VHOG:0000348|EFO:0003051|MESH:D007866 uberon owl:Class Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] sural FMA:24979 denotes the middle segment (zeugopod), its placement here is correct. See obo-anatomy archives for discussion Naming conventions for pod terms under discussion within phenoscape group. TODO - add distinct term for skeleton and place AAO class here UBERON:0007772 biolink:NamedThing scrotal sweat Any portion of sweat that is produced by a sweat gland of the scrotum. tmpxe7fu0cj_hp_relaxed.owl sweat of scrotum|scrotum sweat|sweat of scrotal sac FMA:73266 uberon owl:Class UBERON:0007773 biolink:NamedThing scrotal sweat gland Any sweat gland that is part of a scrotum. tmpxe7fu0cj_hp_relaxed.owl EMAPA:29743 uberon owl:Class UBERON:0006558 biolink:NamedThing lymphatic part of lymphoid system An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. tmpxe7fu0cj_hp_relaxed.owl lymphatic system|lymphatic tree system|lymporeticular system EFO:0000870|MESH:D008208|MA:0002961|CALOHA:TS-2024|FMA:7162|VHOG:0001761|AAO:0010522|EMAPA:18248 consider merging with lymph vasculature uberon owl:Class Part of the circulatory system which consists of a series of vessels which collect blood (exclusive of erythrocytes) which seep through capillary walls and return it to the veins.[AAO] lymporeticular in FMA this is part of the cardiovascular system, but here we treat the CV system as a separate component of the circulatory system from the lymphatic system GO:0003148 biolink:NamedThing outflow tract septum morphogenesis The process in which the anatomical structures of the outflow tract septum are generated and organized. The outflow tract septum is a partition in the outflow tract. tmpxe7fu0cj_hp_relaxed.owl tb 2009-09-22T07:51:01Z biological_process owl:Class UBERON:0004142 biolink:NamedThing outflow tract septum The outflow tract septum is a partition in the outflow tract. tmpxe7fu0cj_hp_relaxed.owl XAO:0004141 uberon owl:Class GO:0010626 biolink:NamedThing negative regulation of Schwann cell proliferation Any process that decreases the frequency or extent of the multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0014010 biolink:NamedThing Schwann cell proliferation The multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0004241 biolink:NamedThing Stippled calcification in carpal bones Point-shaped (punctate) calcifications affecting the carpal bones. tmpxe7fu0cj_hp_relaxed.owl Punctate calcifications of carpals UMLS:C1844846 HP:0006177 human_phenotype owl:Class N9f74d0404d2049e295715c9443ea3d79 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000962 biolink:NamedThing nerve of cervical vertebra The cervical nerves are the spinal nerves from the cervical vertebrae. Although there are seven cervical vertebrae (C1-C7), there are eight cervical nerves (C1-C8). All nerves except C8 emerge above their corresponding vertebrae, while the C8 nerve emerges below the C7 vertebra. (In the other portions of the spine, the nerve emerges below the vertebra with the same name. Dorsal (posterior) distribution includes the greater occipital (C2) and third occipital (C3). Ventral (anterior) distribution includes the cervical plexus (C1-C4) and brachial plexus (C5-C8) [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl cervical spinal nerve|cervical nerve tree|cervical nerve|nervus cervicalis UMLS:C0228815|SCTID:360497008|NCIT:C32299|FMA:5859|BAMS:cern|Wikipedia:Cervical_nerves|NLXANAT:20090207|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2351 Innervates: sternohyoid muscle, sternothyroid muscle, omohyoid muscle[WP] http://upload.wikimedia.org/wikipedia/commons/e/e6/Gray795.png uberon owl:Class UBERON:0014540 biolink:NamedThing white matter lamina of cerebellum The white laminae of cerebellum is subdivision of the cerebellar cortex comprised of myelinated axons lying deep to the granule cell layer of the cerebellar cortex. tmpxe7fu0cj_hp_relaxed.owl isthmus gyri cingulatus|isthmus of gyrus fornicatus|isthmus cinguli|white laminae of cerebellum|isthmus of the cingulate gyrus|lamina alba of cerebellar cortex|white lamina of cerebellum|isthmus gyri cinguli|laminae albae of cerebellar cortex|isthmus-2 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=163|BIRNLEX:1105|UMLS:C0228472 uberon owl:Class UBERON:0001445 biolink:NamedThing skeleton of pes Subdivision of skeleton that is the collection of all skeletal elements in a pes, which is the distal section of the posterior hindlimb skeleton consisting of the mesopodium, the metapodium and the acropodium (e.g. including the ankle, sole, and toes)[Phenoscape]. tmpxe7fu0cj_hp_relaxed.owl pes|pes skeleton|pedal skeleton|posterior autopodium|set of bones of foot|posterior autopodium skeleton|foot region skeleton|skeleton of foot|foot skeleton VSAO:0005021|FMA:24222|EHDAA2:0002228 here 'pes' includes both the ankle region, metatarsals and acropodial region uberon owl:Class https://github.com/obophenotype/uberon/wiki/Skeleton-partonomy-Design-Pattern UBERON:0002386 biolink:NamedThing forelimb zeugopod The middle limb segment of the pectoral free limb, between the autopod and stylopod segments. Includes as parts the forelimb zeugopodial skeleton, which includes as parts the radius and ulna, or their cartilage precursors, or evolutionary variants. tmpxe7fu0cj_hp_relaxed.owl middle limb segment of forelimb|forearm|zeugopod of proximal segment of free upper limb|antebrachium|forelimb epipodium|wing zeugopod|antebrachial region|zeugopod of brachial region|antibrachium|zeugopod of forelimb|brachial region middle limb segment|zeugopod of arm|forelimb zeugopodium|arm zeugopod|regio antebrachialis|lower arm|fore epipodium|brachial region zeugopod|forelimb zygopod|intermediate segment of free upper limb|middle limb segment of brachial region|lower segment of arm|arm middle limb segment|middle limb segment of proximal segment of free upper limb|middle limb segment of arm EMAPA:17417|EFO:0003053|BTO:0001447|CALOHA:TS-2205|UMLS:C0016536|FMA:9663|VSAO:0005058|EHDAA2:0000553|EHDAA:4172|NCIT:C32628|galen:Forearm|VHOG:0000341|OpenCyc:Mx4rvVjnmpwpEbGdrcN5Y29ycA|EHDAA:6218|MESH:D005542|MA:0000034|GAID:55 Forearm:labeled.png|http://upload.wikimedia.org/wikipedia/commons/3/3b/Veins.jpg uberon owl:Class The middle forelimb region. [Evolution, Fourth_Edition_(2006)_Boston_etc.:_McGraw-Hill, Function, Vertebrates:_Comparative_Anatomy, p.321, see_Kardong_KV][VHOG] Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] Naming conventions for pod terms under discussion within phenoscape group. TODO - add distinct term for skeleton and place AAO class here HP:0009383 biolink:NamedThing Bracket epiphyses of the 5th finger An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of pinkie finger bone|Bracket shaped end part of little finger bone|Bracket shaped end part of pinky finger bone UMLS:C4024406 doelkens 2009-01-13T01:19:03Z human_phenotype owl:Class N183b65bbcf99498c95443fc94c70ff5c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009594 biolink:NamedThing Retinal hamartoma A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1863411 peter 2009-01-28T10:58:47Z human_phenotype owl:Class N8a66e19e61564d76b1e0cd5b55928032 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000983 biolink:NamedThing metatarsus region A metapodium region that is part of a pes. tmpxe7fu0cj_hp_relaxed.owl hindlimb cannon region|metatarsal part of foot|metatarsus|hind metapodium|hindlimb equine cannon region|metatarsal region|regio metatarsalis CALOHA:TS-2221|MA:0000049|FMA:24997 uberon owl:Class mammalian and non-mammalian AOs differ in whether they consider this a part of the skeleton UBERON:0002387 biolink:NamedThing pes Distal portion of the hind limb, including tarsal region, metatarsal region and digits. tmpxe7fu0cj_hp_relaxed.owl foot|hindlimb autopod|hindfeet|hindlimb distal free limb segment|pes|hindlimb autopodium|terminal segment of free lower limb|hindfoot|hind foot|hindpaw|hindfoot of quadruped|hind-paw|hind limb autopodium|hind paw VHOG:0000350|EMAPA:17459|galen:Foot|EFO:0003065|MESH:D005528|EHDAA2:0000546|NCIT:C32622|GAID:40|UMLS:C0016504|MA:0000044|CALOHA:TS-0377|BTO:0000476|OpenCyc:Mx4rvVi-k5wpEbGdrcN5Y29ycA|FMA:9664 http://upload.wikimedia.org/wikipedia/commons/a/ae/Male_Right_Foot_1.jpg uberon owl:Class pedal CHEBI:17053 biolink:NamedThing L-aspartic acid The L-enantiomer of aspartic acid. tmpxe7fu0cj_hp_relaxed.owl ASPARTIC ACID|L-aspartic acid|(S)-2-aminobutanedioic acid|L-Asparaginsaeure|(S)-2-aminosuccinic acid|Asp|(2S)-2-aminobutanedioic acid|D|L-Aspartic acid|2-Aminosuccinic acid 0 C4H7NO4 InChI=1S/C4H7NO4/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H,6,7)(H,8,9)/t2-/m0/s1 CKLJMWTZIZZHCS-REOHCLBHSA-N 133.10270 133.03751 N[C@@H](CC(O)=O)C(O)=O PMID:11568288|DrugBank:DB00128|Gmelin:3333|YMDB:YMDB00896|PMID:22770225|PMID:21359215|ECMDB:ECMDB00191|MetaCyc:L-ASPARTATE|Drug_Central:1550|KEGG:D00013|Reaxys:1723530|PDBeChem:ASP|Beilstein:1723530|KEGG:C00049|KNApSAcK:C00001342|HMDB:HMDB0000191|CAS:56-84-8 CHEBI:40853|CHEBI:21247|CHEBI:40913|CHEBI:40942|CHEBI:6193|CHEBI:40900 chebi_ontology owl:Class HP:0041163 biolink:NamedThing Fractured manual digit A partial or complete breakage of the manual digit. tmpxe7fu0cj_hp_relaxed.owl bone manual digit owl:Class N462b5378c6634399ab87171f73687e31 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001633 biolink:NamedThing basilar artery A major artery that supplues the hindbrain and runs along the ventral keel of the hindbrain. tmpxe7fu0cj_hp_relaxed.owl BA VHOG:0000237|ZFA:0005002|OpenCyc:Mx4rwJTtcZwpEbGdrcN5Y29ycA|EMAPA:17307|NCIT:C12676|MESH:D001488|TAO:0005002|GAID:474|MA:0001920|UMLS:C0004811|EHDAA:5285|EHDAA2:0000163|FMA:50542 http://upload.wikimedia.org/wikipedia/commons/2/2e/Circle_of_Willis_en.svg uberon owl:Class Artery that runs along the ventral keel of the hindbrain. It lies between the primordial hindbrain channels(PHBC). It irrigates the hindbrain and is connected, through the hindbrain, to the PHBC by the central arteries.|The unpaired artery that is formed by the union of the two vertebral arteries, runs forward within the skull just under the pons, divides into the two posterior cerebral arteries, and supplies the pons, cerebellum, posterior part of the cerebrum, and the inner ear[MP]. The major artery supplying the hindbrain, the basilar artery, runs along the ventral keel of the hindbrain in all vertebrates.[well established][VHOG] UBERON:0002298 biolink:NamedThing brainstem Stalk-like part of the brain that includes amongst its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,MP,generalized]. tmpxe7fu0cj_hp_relaxed.owl truncus encephali|lamella pallidi incompleta|accessory medullary lamina of pallidum|truncus encephalicus|lamina pallidi incompleta|brain stem|lamina medullaris incompleta pallidi|lamina medullaris accessoria VHOG:0001457|EV:0100241|BAMS:BS|TAO:0002156|SCTID:180925009|CALOHA:TS-0093|NCIT:C12441|EFO:0001962|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=236|EMAPA:32678|MBA:343|MESH:D001933|MA:0000169|BIRNLEX:1565|Wikipedia:Brainstem|FMA:79876|UMLS:C0006121|BTO:0000146|ZFA:0001707 'brainstem' is a loose term that sometimes refers to the ventral parts o the brain except for any part of the telencephalon - sometimes it includes the diencephalon or subpallial telencephalon structures (ISBN:0471888893). Here we use it in a more restriced sense, to include only the medulla oblongata, pons (when present) and the midbrain tegmentum (following the ZFA definitions). http://upload.wikimedia.org/wikipedia/commons/b/b7/Gray719.png uberon owl:Class Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain.[TAO]|the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord[MP]|Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,adopted][ZFA:0001707]. UBERON:0001176 biolink:NamedThing right hepatic duct The duct that drains bile from the right half of the liver and joins the left hepatic duct to form the common hepatic duct. tmpxe7fu0cj_hp_relaxed.owl ductus hepaticus dexter EHDAA2:0001727|MA:0001639|VHOG:0000217|EMAPA:32797|UMLS:C0227557|NCIT:C33476|FMA:14669|EHDAA:3992 uberon owl:Class The duct which drains bile from the right half of the liver and unites with the left hepatic duct to form the common hepatic duct. [adapted_from_http://www.medterms.com/script/main/art.asp?articlekey=26032][VHOG] UBERON:0005171 biolink:NamedThing hepatic duct Any portion of the ducts that carry bile from the liver to the common bile duct. This may include both intrahapetic components (parts of left and right hepatic ducts) and extrahapetic components (common hepatic duct, plus hilar portion). tmpxe7fu0cj_hp_relaxed.owl NCIT:C32730|EHDAA2:0000741|OpenCyc:Mx4rvWo8WJwpEbGdrcN5Y29ycA|EHDAA:3049|UMLS:C0917710|FMA:71891|galen:HepaticDuct|EMAPA:16843|VHOG:0000219|MA:0000357 TODO - MA distinguishes between bile duct, hepatic duct, common bile duct and common hepatic duct. in FMA hepatic duct and common hepatic duct are the same uberon owl:Class The hepatic duct is the duct that leads from the liver to the bile duct[GO].|The excretory duct of the liver or one of its branches in the lobes of the liver. [TFD][VHOG]|A duct that carries bile from the liver to the small intestine.[TAO] HP:0100162 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the innermost bone of the 3rd toe UMLS:C4022259 doelkens 2010-06-24T10:24:45Z human_phenotype owl:Class Nee977505d6704d73b64a4355e0dbe5c3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7e7f8f71cb0247f987497477127df781 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:24996 biolink:NamedThing lactate A hydroxy monocarboxylic acid anion that is the conjugate base of lactic acid, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl 2-hydroxypropionate|2-hydroxypropanoic acid, ion(1-)|MeCH(OH)CO2 anion|b-lactate|2-hydroxypropanoate|beta-lactate|lactate -1 C3H5O3 InChI=1S/C3H6O3/c1-2(4)3(5)6/h2,4H,1H3,(H,5,6)/p-1 JVTAAEKCZFNVCJ-UHFFFAOYSA-M 89.07000 89.02442 CC(O)C([O-])=O Gmelin:240074|Beilstein:3587719|MetaCyc:Lactate|CAS:113-21-3|KEGG:C01432 chebi_ontology owl:Class UBERON:0001446 biolink:NamedThing fibula The major postaxial endochondral bone in the posterior zeugopod[Phenoscape]. tmpxe7fu0cj_hp_relaxed.owl AAO:0000891|BTO:0002346|EMAPA:19141|FMA:24479|MESH:A02.835.232.500.321|NCIT:C12718|CALOHA:TS-2203|EFO:0003052|MA:0001360|galen:Fibula|GAID:202|UMLS:C0016068 http://upload.wikimedia.org/wikipedia/commons/1/16/Illu_lower_extremity.jpg uberon owl:Class One of the two long bones of endochondral origin of the hind-epipodium; it is a rather more slender bone than the tibia but of about the same length.[AAO] fibular UBERON:0004104 biolink:NamedThing hairline Anatomical line demarcating the boundary between forehead and scalp. tmpxe7fu0cj_hp_relaxed.owl FMA:285412 uberon owl:Class N4f2ada29f4594a38bdc9347f8fc40a2a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001493 biolink:NamedThing axillary nerve The axillary nerve is a nerve of the human body, that comes off the posterior cord of the brachial plexus at the level of the axilla (armpit) and carries nerve fibers from C5 and C6. The axillary nerve travels through the quadrangular space with the posterior circumflex humeral artery and vein. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl circumflex humeral nerve|auxillery nerve|circumflex nerve|nervus axillaris UMLS:C0228885|FMA:37072|MA:0001166|NCIT:C52817|OpenCyc:Mx4rvgwMfpwpEbGdrcN5Y29ycA|EMAPA:18802 Brachial:plexus.jpg|http://upload.wikimedia.org/wikipedia/commons/e/ea/Brachial_plexus_2.svg uberon owl:Class UBERON:0001814 biolink:NamedThing brachial nerve plexus An arrangement of nerve fibers, running from the spine where it proceeds through the neck then the axilla and into the arm where it innervates skin and muscle. [WP,modified]. tmpxe7fu0cj_hp_relaxed.owl brachial plexus|plexus brachialis GAID:842|FMA:5906|MESH:D001917|OpenCyc:Mx4rwNWmO5wpEbGdrcN5Y29ycA|MA:0001180|EMAPA:16988|EHDAA2:0000180|NCIT:C12682|EHDAA:3782|UMLS:C0006090|VHOG:0000372 http://upload.wikimedia.org/wikipedia/commons/3/3a/Gray808.png|http://upload.wikimedia.org/wikipedia/commons/c/c9/Brachial_plexus_color.svg check superclass - nerve vs collection of fibers vs junction; note that FMA also has 'brachial autonomic nerve plexus' uberon owl:Class A nerve plexus originating from the anterior branches of the last four cervical and the first thoracic spinal nerves, giving off many of the principal nerves of the shoulder, chest, and arms. [TFD][VHOG] To reach the muscles, dermatomes, and other structures of the limbs, some of the neurons in the spinal nerves come together in the plexus at the base of the limb. Such plexuses occur in all gnathostomes, and they reach their highest complexity among mammals and birds in which the cervical plexus supplies many ventral neck muscles, the brachial plexus supplies the pectoral appendage, a lumbosacral plexus supplies the pelvic appendage, and a coccygeal plexus supplies some of the pelvic muscles.[well established][VHOG] UBERON:0001544 biolink:NamedThing popliteal vein The popliteal vein course runs alongside the popliteal artery but carries the blood from the knee joint and muscles in the thigh and calf back to the heart. Its origin is defined by the junction of the posterior tibial vein and anterior tibial vein. It drains the peroneal vein before reaching the knee joint and turns into the femoral vein when leaving the adductor canal (also known as Hunter's canal). The popliteal artery extends from the femoral artery behind the popliteal fossa which is the space behind the knee. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl vena poplitea galen:PoplitealVein|FMA:44327|OpenCyc:Mx4rv8Ch-JwpEbGdrcN5Y29ycA|NCIT:C33339|MA:0002197|EMAPA:37181|UMLS:C0032652|MESH:D011152|GAID:537 http://upload.wikimedia.org/wikipedia/commons/6/66/Gray609.png uberon owl:Class UBERON:0003346 biolink:NamedThing mucosa of rectum A mucosa that is part of a rectum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl rectal mucosa|mucosa of organ of rectum|rectal mucous membrane|rectum mucosa of organ|mucous membrane of rectum|rectum organ mucosa|rectum mucosa|rectum mucous membrane|organ mucosa of rectum CALOHA:TS-2107|MA:0003218|EMAPA:27081|FMA:15033 uberon owl:Class UBERON:0001052 biolink:NamedThing rectum The terminal portion of the intestinal tube, terminating with the anus. tmpxe7fu0cj_hp_relaxed.owl terminal portion of intestine|intestinum rectum|rectal sac|terminal portion of large intestine UMLS:C0034896|EHDAA:5836|GAID:311|MIAA:0000050|galen:Rectum|XAO:0000238|CALOHA:TS-1180|EMAPA:17896|EHDAA2:0001592|MA:0000336|EV:0100081|AAO:0010401|NCIT:C12390|MESH:A03.492.411.495.767|OpenCyc:Mx4rvVjaU5wpEbGdrcN5Y29ycA|MAT:0000050|VHOG:0001751|BTO:0001158|EFO:0000848|FMA:14544 http://upload.wikimedia.org/wikipedia/commons/7/75/Anorectum.gif uberon owl:Class The terminal portion of the large intestine between the ileo-pelvic colon and the anus. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] rectal In the lungfish, sharks and rays the rectum opens into the cloaca which also receives wastes (urine) from the kidneys and material from the reproductive organs. In bony fish the rectum reaches the outside environment through the anus, which is normally situated just in front the urinary and reproductive openings. However in some fish the digestive tract may be curled back on itself, and in the Electric Eel (Electrophorus electricus) the anus is situated in the fish's throat. -- http://www.earthlife.net/fish/digestion.html UBERON:0001707 biolink:NamedThing nasal cavity An anatomical cavity that is part of the olfactory apparatus. This includes the space bounded anteriorly by the nares and posteriorly by the choanae, when these structures are present. tmpxe7fu0cj_hp_relaxed.owl nasal canal|cavity of olfactory apparatus|olfactory pit|nasal pit|nasal conduit space|cavity of nose|olfactory chamber cavity|cavum nasi|cavitas nasi|olfactory chamber|olfactory cavity|nasal fossa|cavitas nasalis EHDAA2:0001226|UMLS:C0027423|MESH:D009296|MA:0000284|FMA:54378|EHDAA:6801|VHOG:0000271|AAO:0000314|NCIT:C12424|TAO:0000130|GAID:350|ZFA:0000130|BTO:0002096|EMAPA:17604 http://upload.wikimedia.org/wikipedia/commons/d/d4/Illu01_head_neck.jpg define the boundaries of this cavity for a variety of species and check that parthood relations are not too strong. uberon owl:Class a large air filled space above and behind the nose in the middle of the face[WP][Wikipedia:Nasal_cavity].|Saclike space internal to the nasal capsule lined by respiratory and sensory epithelium and glandular tissue.[AAO] Despite significant modification to the nasal cavity within Archosauria and its extreme hypertrophy and supraorbital development in Lambeosaurinae, the neural olfactory system and the olfactory region of the nasal cavity proper retain their plesiomorphic positions and associations, suggesting that this system is highly conserved in vertebrate evolution.[well established][VHOG] in humans, the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures UBERON:0015788 biolink:NamedThing olfactory apparatus chamber An anatomical chamber that is part of the olfactory apparatus, consisting of cavity walls (nasal epithelium and mucosal layers) and the space bounded anteriorly by the nares and posteriorly by the choanae, when these structures are present. tmpxe7fu0cj_hp_relaxed.owl FMA:265136 uberon owl:Class GO:0001958 biolink:NamedThing endochondral ossification Replacement ossification wherein bone tissue replaces cartilage. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Endochondral_ossification biological_process owl:Class GO:0060350 biolink:NamedThing endochondral bone morphogenesis The process in which bones are generated and organized as a result of the conversion of initial cartilaginous anlage into bone. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0001837 biolink:NamedThing epithelial to mesenchymal transition A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. tmpxe7fu0cj_hp_relaxed.owl epithelial-mesenchymal transition|mesenchymal cell differentiation from epithelial cell|EMT biological_process owl:Class UBERON:0000974 biolink:NamedThing neck An organism subdivision that extends from the head to the pectoral girdle, encompassing the cervical vertebral column. tmpxe7fu0cj_hp_relaxed.owl collum|neck (volume) GAID:86|MA:0000024|MIAA:0000297|OpenCyc:Mx4rvVjLF5wpEbGdrcN5Y29ycA|EFO:0000967|MESH:D009333|MAT:0000297|AEO:0000108|UMLS:C0027530|EMAPA:35587|NCIT:C13063|galen:Neck|SCTID:302550007|CALOHA:TS-2045|BTO:0000420|Wikipedia:Neck|FMA:7155|EHDAA2:0003108 true necks are considered to be present when the pectoral girdle is separate from the skull - Tiktaalik is the earliest known fish to have a true neck. Female:neck.jpg uberon owl:Class cervical UBERON:0007811 biolink:NamedThing craniocervical region The anteriormost subdivision of the body that includes the head, jaws, pharyngeal region and the neck (if present). In vertebrates this is the subdivision that includes the cervical vertebrae. tmpxe7fu0cj_hp_relaxed.owl cephalic region|head and neck|cephalic part of animal|cephalic area|head or neck UMLS:C0460004|galen:HeadAndNeck|FMA:280881|SCTID:361355005|MA:0000006|WikipediaCategory:Head_and_neck|CALOHA:TS-2356|EV:0100009|NCIT:C12418 uberon owl:Class N6ebcc3e2375c4f15bd22a405fa7560fc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007610 biolink:NamedThing tibial artery The anterior and posterior arteries created at the bifurcation of the popliteal artery. The anterior tibial artery begins at the lower border of the popliteus muscle and lies along the tibia at the distal part of the leg to surface superficially anterior to the ankle joint. Its branches are distributed throughout the leg, ankle, and pes. The posterior tibial artery begins at the lower border of the popliteus muscle, lies behind the tibia in the lower part of its course, and is found situated between the medial malleolus and the medial process of the calcaneal tuberosity. Its branches are distributed throughout the leg and foot. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0085427|EMAPA:36530|GAID:514|NCIT:C12824|MESH:D016909|MA:0002067 uberon owl:Class UBERON:0002250 biolink:NamedThing popliteal artery The continuation of the femoral artery coursing through the popliteal fossa; it divides into the anterior and posterior tibial arteries. tmpxe7fu0cj_hp_relaxed.owl arteria poplitea MESH:D011150|GAID:504|NCIT:C33337|FMA:77155|MA:0002021|UMLS:C0032649|EMAPA:37109|OpenCyc:Mx4rvduV6pwpEbGdrcN5Y29ycA Popliteal:artery.png uberon owl:Class N6006174657084f7185ee6842d8f4fab1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000215 biolink:NamedThing Thick upper lip vermilion Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). tmpxe7fu0cj_hp_relaxed.owl Full upper lip|Prominent upper lip vermilion|Prominent upper lip|Thick red part of the upper lip|Plump upper lip|Thick vermilion border of upper lip|Increased volume of upper lip vermilion|Full upper lip vermilion|Thick upper lip|Increased volume of upper lip|Increased height of upper lip vermilion UMLS:C1846423 Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual. HP:0000231 human_phenotype owl:Class N33a43cf2a5eb4321ac15ae225f0fab86 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:350546 biolink:NamedThing serotonin(1+) An ammonium ion that is the conjugate acid of serotonin; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl serotonin|serotonin cation|2-(5-hydroxy-1H-indol-3-yl)ethanaminium +1 C10H13N2O InChI=1S/C10H12N2O/c11-4-3-7-6-12-10-2-1-8(13)5-9(7)10/h1-2,5-6,12-13H,3-4,11H2/p+1 QZAYGJVTTNCVMB-UHFFFAOYSA-O 177.22250 177.10224 [NH3+]CCc1c[nH]c2ccc(O)cc12 chebi_ontology owl:Class HP:0005807 biolink:NamedThing Absent distal phalanges Aplasia (absence) of the distal phalanges. tmpxe7fu0cj_hp_relaxed.owl Absent outermost digital bones UMLS:C1861339 human_phenotype owl:Class N96da6c21099f46a88fed83b5f4c6c383 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000005 biolink:NamedThing chemosensory organ tmpxe7fu0cj_hp_relaxed.owl chemosensory sensory organ FBbt:00005157 uberon owl:Class UBERON:0001898 biolink:NamedThing hypothalamus A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. [ZFA]. One of the most important functions of the hypothalamus is to link the nervous system to the endocrine system via the pituitary gland (hypophysis).[Wikipedia]. tmpxe7fu0cj_hp_relaxed.owl preoptico-hypothalamic area|hypothalamus|preoptico-hypothalamic region|Hy EHDAA2:0000802|BIRNLEX:734|DHBA:10467|BM:Die-Hy|ZFA:0000032|EV:0100225|CALOHA:TS-0469|MBA:1097|BAMS:Hy|EFO:0000107|MIAA:0000112|FMA:62008|galen:Hypothalamus|GAID:460|XAO:0004070|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=292|MESH:A08.186.211.577.482|UMLS:C0020663|AAO:0010484|VHOG:0000179|NCIT:C12458|EHDAA:5446|OpenCyc:Mx4rwEgr9JwpEbGdrcN5Y29ycA|MAT:0000112|MA:0000173|TAO:0000032|BAMS:HY|HBA:4540|EMAPA:17536|BTO:0000614 http://upload.wikimedia.org/wikipedia/commons/9/9f/LocationOfHypothalamus.jpg uberon owl:Class A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. Kimmel et al, 1995.[TAO]|Part of the diencephalon ventral to the thalamus consisting of connecting fibers and is a center for control of the autonomous nervous system.[AAO] For instance, the vertebrate ventral diencephalon generates the hypothalamus which functions as a major endocrine center in cooperation with the hypophysis, the anterior part of the pituitary gland, located just ventral to the hypothalamus. In the amphioxus brain, the presence of a hypothalamus-like structure has been reported associated with the ventrally located Hatschek's pit, the hypothetical hypophysial homologue. It is thus conceivable that a hypothalamus-like structure originally involved in endocrine functions may have already been present before the establishment of vertebrates.[well established][VHOG] hypothalamic all vertebrates contain a hypothalamus CL:0001060 biolink:NamedThing hematopoietic oligopotent progenitor cell, lineage-negative A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2010-01-06T03:43:27Z cell owl:Class PR:000001020 biolink:NamedThing CD3 epsilon A CD3 subunit with immunoglobulin domain that is a translation product of the human CD3E gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl T-cell surface antigen T3/Leu-4 epsilon chain|CD3E|CD3e|T3E IUPHARobj:2742 Category=gene. Requested by=CL. protein owl:Class HP:0000039 biolink:NamedThing Epispadias Displacement of the urethral opening on the dorsal (superior) surface of the penis. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:406477003|UMLS:C0563449 Epispadias may be present in a phenotypic male, female, or an individual with ambiguous genitalia. A meatus in a phenotypic male may be positioned either on the glans (glandular or balanic epispadias), the shaft (penile epispadias) or at the attachment of the penis to the abdominal wall (penopubic epispadias). Alternatively, the urethra may be an open groove along the dorsal shaft of the penis, with no readily recognized meatus. Epispadias is a frequent component of Bladder exstrophy, but should be coded separately. human_phenotype owl:Class Ncf128d827d954c2f9fd3adfc8db3c012 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001359 biolink:NamedThing cerebrospinal fluid A clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord. tmpxe7fu0cj_hp_relaxed.owl CSF|liquor cerebrospinalis|spinal fluid|cerebral spinal fluid MA:0002503|FMA:20935|VHOG:0001278|CALOHA:TS-0130|EFO:0000329|MAT:0000499|UMLS:C0007806|BTO:0000237|GAID:1181|EV:0100311|BIRNLEX:1798|ENVO:02000029|EHDAA2:0004441|NCIT:C12692|MESH:A12.207.268|ZFA:0001626|TAO:0002184 many sources state the CP as sole producer of CSF, but this is disputed [DOI:10.1007/s11064-015-1581-6] uberon owl:Class Portion of organism substance that is a clear fluid that occupies the subarachnoid space and the ventricular system around and inside the brain.[TAO] In vertebrates, at early stages of Central Nervous System (CNS) development, the architecture of the brain primordium reveals the presence of the cavity of brain vesicles, which is filled by Embryonic Cerebro-Spinal Fluid (E-CSF). (...) Rat and chick E-CSF proteomes are similar, although rat is more complex in certain groups of proteins, e.g., apolipoproteins, which may be involved in the control of neural diversity, and has soluble enzymes present, just like adult human CSF, but unlike chick E-CSF, revealing phylogenetic brain differences between these groups of vertebrates.[uncertain][VHOG] the FMA def states that this is subarachnoid spaces only. ZFA def states subarachnoid spaces and brain ventricles, but not SC (and has part_of to brain). Circulation: It circulates from the lateral ventricles to the foramen of Monro (Interventricular foramen), third ventricle, aqueduct of Sylvius (Cerebral aqueduct), fourth ventricle, foramen of Magendie (Median aperture) and foramina of Luschka (Lateral apertures), subarachnoid space over brain and spinal cord. It should be noted that the CSF moves in a pulsatile manner throughout the CSF system with nearly zero net flow. CSF is reabsorbed into venous sinus blood via arachnoid granulations.|EHDAA2 models this as developing from CP, which is wrong HP:0002946 biolink:NamedThing Supernumerary vertebrae tmpxe7fu0cj_hp_relaxed.owl UMLS:C0265681|SNOMEDCT_US:87294007 human_phenotype owl:Class Nea4d6821a07644049734dfb8a5c49c65 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008817 biolink:NamedThing thymus primordium endoderm An endoderm that is part of a thymus primordium. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0007124 biolink:NamedThing pharyngeal pouch 3 A pharyngeal pouch that between pharyngeal arches 3 and 4. tmpxe7fu0cj_hp_relaxed.owl 3rd arch branchial pouch endoderm|3rd branchial pouch|third pharyngeal pouch|3rd arch branchial pouch|visceral pouch 3|pharyngeal pouches 3|third visceral pouch|3rd pharyngeal pouch endoderm|third arch pharyngeal pouch EHDAA2:0000077|XAO:0000251|EFO:0003634|Wikipedia:Pharyngeal_pouch_(embryology)#Third_pouch|VHOG:0000966|RETIRED_EHDAA2:0000076|EMAPA:16586|VHOG:0001030|FMA:295682|NCIT:C34311|ZFA:0001131|AAO:0011116|SCTID:345450001|TAO:0001131|UMLS:C0231070 UBERON:0005716 uberon owl:Class Third of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO]|A pouch that is situated between the 3rd and 4th pharyngeal arch. [ISBN:0124020607][VHOG] A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] The third pouch possesses Dorsal and Ventral wings. Derivatives of the dorsal wings include the inferior parathyroid glands, while the ventral wings fuse to form the cytoreticular cells of the thymus. The main nerve supply to the derivatives of this pouch is Cranial Nerve IX, glossopharyngeal nerve UBERON:0002107 biolink:NamedThing liver An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]. tmpxe7fu0cj_hp_relaxed.owl iecur|jecur AAO:0010111|NCIT:C12392|EMAPA:16846|MESH:D008099|FMA:7197|MA:0000358|VHOG:0000257|EV:0100089|CALOHA:TS-0564|EHDAA2:0000997|XAO:0000133|galen:Liver|BTO:0000759|OpenCyc:Mx4rvVimppwpEbGdrcN5Y29ycA|EFO:0000887|GAID:288|MIAA:0000097|EHDAA:2197|MAT:0000097|TAO:0000123|ZFA:0000123|UMLS:C0023884 Leber:Schaf.jpg uberon owl:Class Organ which secretes bile and participates in formation of certain blood proteins.[AAO] relationship type change: differentiates_from endoderm (AAO:0000139) CHANGED TO: develops_from endoderm (UBERON:0000925)[AAO] All vertebrates possess a liver (reference 1); Later in craniate evolution, an anterior gill arch was transformed into jaws, and many new types of feeding subsequently evolved.(...) A liver evolved that, among its many functions, stores considerable energy as glycogen or lipid (reference 2).[well established][VHOG] hepatic The liver is found in all vertebrates, and is typically the largest visceral organ. Its form varies considerably in different species, and is largely determined by the shape and arrangement of the surrounding organs. Nonetheless, in most species it is divided into right and left lobes; exceptions to this general rule include snakes, where the shape of the body necessitates a simple cigar-like form. The internal structure of the liver is broadly similar in all vertebrates.|An organ sometimes referred to as a liver is found associated with the digestive tract of the primitive chordate Amphioxus. However, this is an enzyme secreting gland, not a metabolic organ, and it is unclear how truly homologous it is to the vertebrate liver. The zebrafish liver differs from the mammalian liver in that the hepatocytes are not clearly organized in cords or lobules and the typical portal triads are not apparent. In addition, the zebrafish liver does not have Kuppfer cells. Furthermore, a clear distinction can be made between the male and female liver in the adult zebrafish. The female hepatocytes are very basophilic (Figure 15c) as a result of the production of vitellogenin (Van der Ven et al. 2003). secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]. Only ZFA considers this part_of immune system - we weaken this to an overlaps relation, as in general it's only a subset of cells that have clear immune function. N443a2068007a4d2e9f3d1d3b4a997b99 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002042 biolink:NamedThing lymphatic vessel endothelium An endothelium that is part of a lymphatic vessel [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lymph vessel endothelium|lymphatic vessel endothelium|lymphatic endothelium|endothelium of lymphatic vessel|endothelium of lymph vessel FMA:68444|EMAPA:35533|BTO:0004303|CALOHA:TS-2156|NCIT:C49258|MA:0000750|UMLS:C1180786|TAO:0005258|ZFA:0005258|MESH:D004729 uberon owl:Class The vascular endothelium that lines the lymph vessels.[TAO] GO:0009880 biolink:NamedThing embryonic pattern specification The process that results in the patterns of cell differentiation that will arise in an embryo. tmpxe7fu0cj_hp_relaxed.owl embryonic pattern biosynthesis|embryonic pattern formation|ventral/lateral system biological_process owl:Class Nf6b599d5cd60442fb205e88185aecc1c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nda7719d6b4c04020a20fb7582f2351db biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012193 biolink:NamedThing phrenic vein The veins that run parallel to the phrenic arteries which include the two superior and two inferior phrenic veins. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37180|MA:0002194|NCIT:C53062|UMLS:C1709532 uberon owl:Class GO:0071764 biolink:NamedThing nuclear outer membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear outer membrane. tmpxe7fu0cj_hp_relaxed.owl nuclear outer membrane organisation|nuclear outer membrane organization and biogenesis mah 2010-03-29T04:03:37Z biological_process owl:Class CL:0002015 biolink:NamedThing Kit-negative, Ly-76 high polychromatophilic erythroblast A polychromatophilic erythroblast that is Lyg 76-high and is Kit-negative. tmpxe7fu0cj_hp_relaxed.owl late basophilic and polychromatophilic erythroblast tmeehan 2010-04-26T10:53:11Z cell owl:Class N97cfd91181dc4a21b65d217d99acc779 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000913 biolink:NamedThing interstitial fluid Interstitial fluid is a bodily fluid consisting of a solution which bathes and surrounds the cells of multicellular animals. It is the main component of the extracellular fluid, which also includes plasma and transcellular fluid. tmpxe7fu0cj_hp_relaxed.owl tissue fluid|intercellular fluid FMA:9673|ENVO:02000042|NCIT:C120839 uberon owl:Class UBERON:0006321 biolink:NamedThing superior oblique extraocular muscle The superior oblique muscle, or obliquus oculi superior, is a fusiform muscle in the upper, medial side of the orbit whose primary action is downward, lateral rotation of the eye. One of the extraocular muscles, the superior oblique is the only muscle innervated by the trochlear nerve (the fourth cranial nerve). tmpxe7fu0cj_hp_relaxed.owl M. obliquus superior|musculus obliquus superior|dorsal oblique extraocular muscle|obliquus superior|dorsal oblique extraocular muscles|superior oblique|obliquus oculi superior|musculus obliquus superior bulbi|superior oblique muscle FMA:49039|TAO:0000738|VHOG:0001131|MA:0001277|AAO:0010119|UMLS:C0582816|ZFA:0000738|NCIT:C33688 http://upload.wikimedia.org/wikipedia/commons/e/e8/Eyemuscles.png uberon owl:Class Cranial nerve IV innervated; dorsal in the obliquus group.[AAO] The ability to rotate the eyeball is common to all vertebrates with well-developed eyes, regardless of the habitat in which they live, so these [extrinsic ocular] muscles tend to be conservative. They change little during the course of evolution.[well established][VHOG] HP:0011943 biolink:NamedThing Increased urinary thiosulfate Increased concentration of thiosulfate(2-) in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3148695 peter 2012-06-11T07:37:29Z owl:Class N604eca6154ce44bf8f92cc52feb18aee biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:2000278 biolink:NamedThing regulation of DNA biosynthetic process Any process that modulates the frequency, rate or extent of DNA biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl regulation of DNA biosynthesis|regulation of DNA formation|regulation of DNA synthesis|regulation of DNA anabolism yaf 2010-12-08T04:48:15Z biological_process owl:Class UBERON:0006071 biolink:NamedThing caudal region Subdivision of an organism along anterior-posterior axis that is the posteriormost region, extending past the anus (or cloaca, if present), consisting of a tail in some fully formed chordates (or a tail bud in embryos). In animals that have a sacral region, this is the region immediately posterior to this. tmpxe7fu0cj_hp_relaxed.owl postsacral region|tail region|post-anal caudal region|post-anal tail region XAO:0000087 uberon owl:Class This region is reduced in humans and corresponds to the coccyx We follow XAO is distinguishing the tail region from the tail; the tail bud is part of the tail region; the tail starts after the tail bud UBERON:0001245 biolink:NamedThing anus Orifice at the opposite end of an animal's digestive tract from the mouth. Its function is to expel feces, unwanted semi-solid matter produced during digestion, which, depending on the type of animal, may be one or more of: matter which the animal cannot digest, such as bones; food material after all the nutrients have been extracted, for example cellulose or lignin; ingested matter which would be toxic if it remained in the digestive tract; and dead or excess gut bacteria and other endosymbionts. tmpxe7fu0cj_hp_relaxed.owl proctodeum|opening of terminal part of digestive tract|anal orifice|anal opening GAID:312|TGMA:0001279|MA:0000331|TADS:0000066|BTO:0001680|galen:Anus|NCIT:C43362|FMA:15711|CALOHA:TS-2005|EV:0100082|WBbt:0005364|OpenCyc:Mx4rvVjaEZwpEbGdrcN5Y29ycA|UMLS:C0003461|FBbt:00003148|MESH:A03.492.411.495.767.288 http://upload.wikimedia.org/wikipedia/commons/7/75/Anorectum.gif|http://upload.wikimedia.org/wikipedia/commons/6/65/Protovsdeuterostomes.svg uberon owl:Class anal In the lungfish, sharks and rays the rectum opens into the cloaca which also receives wastes (urine) from the kidneys and material from the reproductive organs. In bony fish the rectum reaches the outside environment through the anus, which is normally situated just in front the urinary and reproductive openings. However in some fish the digestive tract may be curled back on itself, and in the Electric Eel (Electrophorus electricus) the anus is situated in the fish's throat. -- http://www.earthlife.net/fish/digestion.html UBERON:0005297 biolink:NamedThing testis sex cord The testis cords are precursors to the rete testis. They play several different roles in the development of the male genitals[WP]. tmpxe7fu0cj_hp_relaxed.owl testis cord|testis primitive sex cord|testis primary sex cords|primary sex cord EHDAA2:0002011|EMAPA:29098|VHOG:0001321|EHDAA:8152 TODO - check primary vs testis uberon owl:Class UBERON:0010141 biolink:NamedThing primitive sex cord of indifferent gonad A sex cord that is part of a indifferent gonad. tmpxe7fu0cj_hp_relaxed.owl indifferent sex cord|primitive sex cords EHDAA2:0004051 note that this represents the indifferent structure. uberon owl:Class HP:0004007 biolink:NamedThing Sclerotic radial epiphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025450 human_phenotype owl:Class N5ee9f6ea78d844a0bed63eb448397447 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002472 biolink:NamedThing stylopod The proximal free limb segment. Includes as parts the stylopod skeleton. tmpxe7fu0cj_hp_relaxed.owl propodium|proximal segment of free limb|stylopodial limb segment|proximal part of limb|proximal free limb segment|stylopodium MA:0002717|MIAA:0000093|MAT:0000093|EFO:0000879|FMA:83014 uberon owl:Class stylopodial Naming conventions for pod terms under discussion within phenoscape group UBERON:0002471 biolink:NamedThing zeugopod The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus). tmpxe7fu0cj_hp_relaxed.owl middle segment of free limb|zygopod|zeugopodium|epipodium|zeugopodial limb segment|middle part of limb|zygopodium|middle limb segment|middle free limb segment|zeugopod limb segment EFO:0000878|MAT:0000092|FMA:83016|MIAA:0000092|MA:0002716 There exists some controversy about which podial segments are present in some fishes, e.g. if the autopod is not newly evolved in tetrapods, there is a question as to which segments are actually present in basal vertebrate taxa.[PHENOSCAPE:curators] uberon owl:Class zeugopodial Naf439089d376494d96d9d1a6b6873205 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001188 biolink:NamedThing right testicular artery A testicular artery that supplies a right testicle. tmpxe7fu0cj_hp_relaxed.owl trunk of right testicular arterial tree|right spermatic artery UMLS:C0734076|NCIT:C52738|EMAPA:37382|FMA:14759|MA:0002042 uberon owl:Class UBERON:0018543 biolink:NamedThing lumen of intestine The anatomical space within the intestine. tmpxe7fu0cj_hp_relaxed.owl intestine lumen|gut lumen|intestinal lumen TADS:0000495|ZFA:0005807|FMA:14586|WBbt:0005791 see notes in inclusivity in class 'intestine' uberon owl:Class UBERON:0000160 biolink:NamedThing intestine Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine. tmpxe7fu0cj_hp_relaxed.owl bowel|intestinal tract EV:0100071|ANISEED:1235303|ZFA:0001338|TAO:0001338|MA:0001524|EFO:0000834|BTO:0000648|FMA:7199|XAO:0000129|MIAA:0000043|UMLS:C0021853|WBbt:0005772|EMAPA:32874|NCIT:C12736|AAO:0000246|GAID:295|MA:0000328|CALOHA:TS-0490|MESH:A03.492.411|galen:Intestine|VHOG:0000056|BSA:0000093 This class is probably too inclusive uberon owl:Class Portion of the alimentary canal bounded anteriorly by the pyloric sphincter and posteriorly by the cloacal sphincter.[AAO]|The tract of the alimentary canal. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] intestinal In zebrafish, No stomach, small intestine, or large intestine can be distinguished. However, differences can be found in the morphology of the mucosa columnar epithelial cells and the number of goblet cells, suggesting functional differentiation. The intestine has numerous folds that become progressively shorter in a rostral-to-caudal direction. Proportionally, these folds are significantly larger than the finger-like intestinal villi of mammals and other amniotes (Wallace et al. 2005). Columnar-shaped absorptive enterocytes are the most numerous in the zebrafish intestinal epithelium. Goblet cells are the second most populous epithelial cell type. HP:0001888 biolink:NamedThing Lymphopenia A reduced number of lymphocytes in the blood. tmpxe7fu0cj_hp_relaxed.owl Low lymphocyte number|Lymphocytopenia|Absolute lymphocyte count decrease|Decreased blood lymphocyte number MSH:D008231|SNOMEDCT_US:48813009|UMLS:C0024312 human_phenotype owl:Class Nf6bea0da60fd4c1da940cd11916dc575 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011588 biolink:NamedThing pre-enamel Odontogenic tissue that is avascular non-mineralized matrix that is deposited by preameloblast and ameloblasts that are excluded from the matrix. tmpxe7fu0cj_hp_relaxed.owl preenamel tissue|pre-enamel tissue VSAO:0000066|XAO:0004202 uberon owl:Class N3dac0b8b4be14d01bf8392b507d06310 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009836 biolink:NamedThing Broad distal phalanx of finger Abnormally wide (broad) distal phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Broad terminal phalanges|Broad distal phalanges|Broad distal phalanx|Spatulate terminal phalanges|Broad distal phalanges of the hand|Broad, square ends of distal phalanges|Broad outermost finger bone UMLS:C1850630 This term should be reserved for a radiological finding of increased width of the distal finger phalanx (bone). The term Broad fingertip should be used to denote a clinical impression of increased side to side width of the distance part of the finger. doelkens 2009-03-11T12:10:11Z HP:0009859|HP:0006113|HP:0006197|HP:0006241|HP:0003120 owl:Class Nc1f9121ecfc943ccbaece54810ee5e46 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0015695 biolink:NamedThing organic cation transport The directed movement of organic cations into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic cations are atoms or small molecules with a positive charge which contain carbon in covalent linkage. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N3f60c7c20ef5401bb97d77ab8f100fbe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8931b3b4ecbe45a69450bf4162143a04 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:63436 biolink:NamedThing carbohydrate acid derivative A carbohydrate derivative that is formally obtained from a carbohydrate acid. tmpxe7fu0cj_hp_relaxed.owl carbohydrate acid derivatives chebi_ontology owl:Class CL:0000133 biolink:NamedThing neurectodermal cell Ectoderm destined to be nervous tissue. tmpxe7fu0cj_hp_relaxed.owl neurectoderm cell cell owl:Class CHEBI:15986 biolink:NamedThing polynucleotide A nucleobase-containing molecular entity with a polymeric structure comprised of a linear sequence of 13 or more nucleotide residues. tmpxe7fu0cj_hp_relaxed.owl polynucleotides|Polynucleotide 0 (C5H8O6PR)n.C10H17O10PR2 KEGG:C00419 CHEBI:14859|CHEBI:8312|CHEBI:13672 chebi_ontology owl:Class CHEBI:50319 biolink:NamedThing nucleotide residue tmpxe7fu0cj_hp_relaxed.owl nucleotide residues chebi_ontology owl:Class UBERON:7500065 biolink:NamedThing condyle of talus An articular prominence of a talus that engages with the tibia. tmpxe7fu0cj_hp_relaxed.owl condyle of astragalus 2021-05-28 00:59:42+00:00 uberon owl:Class UBERON:0002395 biolink:NamedThing talus A proximal tarsal bone resulting from fusion of intermedium and fibulare. tmpxe7fu0cj_hp_relaxed.owl astragaloid bone|os tarsi tibiale|os trigonum|major ankle bone|astragalus|astragalus bone NCIT:C52799|BTO:0002354|MESH:A02.835.232.300.710.780|EMAPA:19135|GAID:196|UMLS:C0039277|galen:Talus|FMA:9708|MA:0001351 Subtalar:Joint.PNG uberon owl:Class The talus is apparently derived from the fusion of three separate bones in the feet of primitive amphibians; the tibiale, articulating with tibia, the intermedium, between the bases of the tibia and fibula, and the fourth centrale, lying in the mid-part of the tarsus. These bones are still partially separate in modern amphibians, which therefore do not have a true talus. The talus forms a considerably more flexible joint in mammals than it does in reptiles. This reaches its greatest extent in artiodactyls, where the distal surface of the bone has a smooth keel to allow greater freedom of movement of the foot, and thus increase running speed GO:0034613 biolink:NamedThing cellular protein localization Any process in which a protein is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpxe7fu0cj_hp_relaxed.owl channel localizer activity|cellular protein localisation GO:0016249 biological_process owl:Class GO:0005496 biolink:NamedThing steroid binding Binding to a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class UBERON:0007289 biolink:NamedThing presumptive rhombomere 1 A presumptive structure that has the potential to develop into a rhombomere 1. tmpxe7fu0cj_hp_relaxed.owl ZFA:0001207|TAO:0001207 uberon owl:Class UBERON:0005499 biolink:NamedThing rhombomere 1 Hindbrain segment or neuromere 1. tmpxe7fu0cj_hp_relaxed.owl r1 TAO:0001031|EMAPA:16290|EHDAA2:0001637|DHBA:12667|ZFA:0001031|EFO:0003608|DMBA:16915|FMA:295790 uberon owl:Class Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] 1 UBERON:0001275 biolink:NamedThing pubis A paired endochondral bone making up the anteroventral region of the tripartite pelvic girdle forming part of the ventral edge of the acetabulum. The origin site of many proximal hindlimb muscles. [PHENOSCAPE:ad]. tmpxe7fu0cj_hp_relaxed.owl os pubis|pubic bone|pubis bone galen:Pubis|NCIT:C33423|AAO:0000861|UMLS:C0034014|MA:0001338|MESH:A02.835.232.611.781|EMAPA:18728|FMA:16595 uberon owl:Class Paired, cartilaginous (ocassionally calcified) elements that form the ventral portion of the pelvic girdle. Each is located ventral to the acetabulum between the anteroventral margin of the ischium and the posteroventral margin of the illium. When the element calcifies or ossifies, its articulation with adjacent elements is difficult to distinguish. Both pubes are synchondrotically fused to one another.[AAO] isa bone zone in FMA UBERON:0007832 biolink:NamedThing pelvic girdle skeleton Skeletal subdivision consisting of a set of bones linking the axial series to the hindlimb zeugopodium and offering anchoring areas for hindlimb and caudal musculature. tmpxe7fu0cj_hp_relaxed.owl skeletal parts of pelvic girdle|skeleton of pelvic girdle|pelvic girdle|pelvic girdle skeleton MAT:0000182|EHDAA:8324|AAO:0000768|TAO:0000565|EMAPA:18028|FMA:87592|ZFA:0000565|EFO:0000947|VHOG:0000305|EHDAA2:0001426|VSAO:0000155|AAO:0000426|EHDAA:7149|galen:PelvicGirdle|XAO:0003064|MIAA:0000182 http://upload.wikimedia.org/wikipedia/commons/f/fe/Gray242.png need to resolve whether this is a paired structure or a single belt (Paired in FMA - implicitly paired in VSAO) uberon owl:Class Anatomical cluster that consists of the paired basipterygia which support the pelvic fin.[TAO]|Girdle skeleton consisting of a set of bones linking the axial series to the hindlimb/fin skeleton and offering anchoring areas for hindlimb/fin and caudal musculature.[VSAO]|Anatomical cluster by which the hind limbs are supported and attached to the vertebral column.[AAO] The pelvic girdle is never joined by contributions of dermal bone. From its first appearance in placoderms, the pelvic girdle is exclusively endoskeletal. It arose from pterygiophores, perhaps several times, in support of the fin.[well established][VHOG] Note that the VSAO and many ontologies use the label 'pelvic girdle' to denote the skeletal region specifically. We place the EHDAA2 class here, note that this includes the pre-cartilage condensation as parts N61e3e19b236f4b258f71d8d3b887d524 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndc9ce051cf9e4fa594b9f5d8916136f7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0048593 biolink:NamedThing camera-type eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. tmpxe7fu0cj_hp_relaxed.owl camera-style eye morphogenesis GO:0048594|GO:0048595 biological_process owl:Class HP:0400002 biolink:NamedThing Extra concha fold Folds or ridges within the concha that are distinct from the crus helix. tmpxe7fu0cj_hp_relaxed.owl Concha, Extra Fold UMLS:C4020915 owl:Class N25024ffa2eb1417ab6dd7857da11cf43 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:5103623 biolink:NamedThing manual digit 3 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 3 plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl manual digit 3 skeleton|manual digit III digitopodial skeleton|manual digit 3 this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class UBERON:0010946 biolink:NamedThing occipitofrontalis muscle The occipitofrontalis or epicranius is a muscle which covers parts of the skull. It consists of two parts or bellies: The occipital belly, near the occipital bone, and the frontal belly, near the frontal bone. tmpxe7fu0cj_hp_relaxed.owl occipitofrontalis|musculus occipitofrontalis|epicranius|occipito-frontalis NCIT:C33198|FMA:9624|UMLS:C1518531 http://upload.wikimedia.org/wikipedia/commons/f/fa/Gray378.png uberon owl:Class A zone of muscle in FMA UBERON:0006661 biolink:NamedThing epicranial aponeurosis The galea aponeurotica (epicranial aponeurosis, aponeurosis epicranialis) is a tough layer of dense fibrous tissue which covers the upper part of the cranium; behind, it is attached, in the interval between its union with the Occipitales, to the external occipital protuberance and highest nuchal lines of the occipital bone; in front, it forms a short and narrow prolongation between its union with the Frontales. On either side it gives origin to the Auriculares anterior and superior; in this situation it loses its aponeurotic character, and is continued over the temporal fascia to the zygomatic arch as a layer of laminated areolar tissue. It is closely connected to the integument by the firm, dense, fibro-fatty layer which forms the superficial fascia of the scalp: it is attached to the pericranium by loose cellular tissue, which allows the aponeurosis, carrying with it the integument to move through a considerable distance. tmpxe7fu0cj_hp_relaxed.owl galea aponeurotica|aponeurosis of epicranius|epicranius aponeurosis|epicranial aponeurosis|galeal aponeurosis|galea aponeurotica; aponeurosis epicranialis|cranial aponeurosis|galea aponeurosis|aponeurosis epicranialis FMA:46768|EMAPA:19210 http://upload.wikimedia.org/wikipedia/commons/f/fa/Gray378.png uberon owl:Class HP:0009695 biolink:NamedThing Stippling of thumb epiphysis The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb. tmpxe7fu0cj_hp_relaxed.owl Stippling of the epiphyses of the thumb|Speckled calcifications in end part of thumb bone UMLS:C4021401 doelkens 2009-01-30T09:20:16Z human_phenotype owl:Class Nfab744c9388c4febb4ee8ef6ca26faec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001155 biolink:NamedThing colon A portion of the large intestine before it becomes the rectum. In mammals, the colon is the most part of the large intestine, excluding the vermiform appendix, the rectum and the anal canal. tmpxe7fu0cj_hp_relaxed.owl large bowel|posterior intestine|hindgut EV:0100079|BTO:0000269|ZFA:0000706|FMA:14543|MAP:0000001|NCIT:C12382|CALOHA:TS-0158|MAT:0000526|UMLS:C0009368|XAO:0000243|EFO:0000361|MA:0000335|galen:Colon|VHOG:0000648|EMAPA:18939|TAO:0000706|MESH:A03.492.411.495.356|OpenCyc:Mx4rvgLEM5wpEbGdrcN5Y29ycA|AAO:0010400|GAID:309 TODO - abstract this such that it legitimately covers all vertebrates|Some references do not consider the caecum to be part of the colon. uberon owl:Class The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates. Wallace et al, 2005.[TAO]|The last portion of the digestive system, it extracts water and salt from solid wastes before they are eliminated from the body.[AAO] Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] colonic In mammals, the colon consists of four sections: the ascending colon, the transverse colon, the descending colon, and the sigmoid colon[WP]|In zebrafish, the posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates[ZFIN] it extracts water and salt from solid wastes before they are eliminated from the body[WP] CHEBI:41865 biolink:NamedThing sebacic acid An alpha,omega-dicarboxylic acid that is the 1,8-dicarboxy derivative of octane. tmpxe7fu0cj_hp_relaxed.owl Sebacinsaeure|1,8-dicarboxyoctane|Decanedioic acid|SEBACIC ACID|1,10-decanedioic acid|Sebacic acid|decanedioic acid 0 C10H18O4 InChI=1S/C10H18O4/c11-9(12)7-5-3-1-2-4-6-8-10(13)14/h1-8H2,(H,11,12)(H,13,14) CXMXRPHRNRROMY-UHFFFAOYSA-N 202.24752 202.12051 OC(=O)CCCCCCCCC(O)=O Reaxys:1210591|PDBeChem:DEC|HMDB:HMDB0000792|Wikipedia:Sebacic_acid|MetaCyc:CPD-3623|PMID:9439441|KEGG:C08277|Gmelin:102423|DrugBank:DB07645|CAS:111-20-6|Beilstein:1210591|KNApSAcK:C00001202|LIPID_MAPS_instance:LMFA01170006|PMID:22770225 CHEBI:9071|CHEBI:41860 chebi_ontology owl:Class UBERON:0004876 biolink:NamedThing urogenital fold One of of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora[MP]. tmpxe7fu0cj_hp_relaxed.owl urethral fold|urogenital ridge|urogenital fold EHDAA2:0004022|EMAPA:30888|FMA:321919 uberon owl:Class Less commonly, urogenital fold refers to the fold in the mesonephros which is the precursor of e.g. the suspensory ligament of the ovary. This is the case in older versions of Gray's anatomy[WP] UBERON:0003983 biolink:NamedThing conus arteriosus A conical pouch formed from the upper and left angle of the right ventricle in the chordate heart, from which the pulmonary artery arises[WP]. the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminates in the pulmonary trunk[MP]. tmpxe7fu0cj_hp_relaxed.owl AAO:0010250 http://upload.wikimedia.org/wikipedia/commons/4/46/Gray492.png uberon owl:Class Receives blood from the left atrium and becomes the median truncus arteriosus.[AAO] Kardong says absent in adult tetrapods, check AAO we use the term CA for the anterior chamber if it is composed of cardiac muscle, contractile, and contains conal valves internally UBERON:0002080 biolink:NamedThing heart right ventricle A cardiac ventricle that is in the right side of the heart. tmpxe7fu0cj_hp_relaxed.owl right ventricle|ventriculus dexter|right ventricle of heart|right cardiac ventricle|cardiac right ventricle EHDAA2:0000196|CALOHA:TS-0443|NCIT:C12870|UMLS:C0225883|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rvVjj1pwpEbGdrcN5Y29ycA|galen:RightVentricle|EMAPA:17340|BTO:0001630|FMA:7098|OpenCyc:Mx4rRMlc0KgNEdudWQACs5b6Bw|SCTID:244384009|MA:0000093|Wikipedia:Right_ventricle|VHOG:0000717 http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg uberon owl:Class The muscular chamber on the right and in front of the left ventricle. It generally receives venous blood from the right atrium and conveys it into the pulmonary artery. [(1988)_Dorian_AF, Amsterdam, Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B._Anatomy, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier's_Encyclopaedic_Dictionary_of_Medicine][VHOG] https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern In mammals continuous with the pulmonary arteries UBERON:0003373 biolink:NamedThing ectoderm of footplate An ectoderm that is part of a footplate. tmpxe7fu0cj_hp_relaxed.owl EMAPA:17250 uberon owl:Class UBERON:0006871 biolink:NamedThing embryonic footplate The distal elements of the developing limb of vertebrates that will give rise to the pes (foot). tmpxe7fu0cj_hp_relaxed.owl foot plate|footplate|foot disk|distal part of hindlimb bud EMAPA:17249|EHDAA:5143|NCIT:C34177|UMLS:C1517291|EHDAA:6096|FMA:296800 UBERON:0004343 uberon owl:Class EHDAA2 does not have a single class for footplate, but includes epithelium, mesenchyme and AER GO:0030917 biolink:NamedThing midbrain-hindbrain boundary development The process whose specific outcome is the progression of the midbrain-hindbrain boundary over time, from its formation to the mature structure. The midbrain-hindbrain domain of the embryonic brain is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages. tmpxe7fu0cj_hp_relaxed.owl midbrain-hindbrain orgainizer development|MHB development|isthmic organizer development|isthmomesencephalic boundary development|isthmus development biological_process owl:Class GO:0007420 biolink:NamedThing brain development The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0004433 biolink:NamedThing proximal epiphysis of distal phalanx of manual digit 3 A proximal epiphysis that is part of a distal phalanx of manual digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of distal phalanx of middle finger|base of distal phalanx of third digit of hand|proximal epiphysis of distal phalanx of manual digit III|proximal epiphysis of distal phalanx of middle finger|base of distal phalanx of third finger FMA:37517 uberon owl:Class UBERON:0004312 biolink:NamedThing distal phalanx of manual digit 3 A distal phalanx that is part of a hand digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl distal phalanx of 3rd digit of hand|forelimb medial ungual phalanx of artiodactyl|3rd finger distal phalanx|hand digit 3 distal phalanx|equine 3rd phalanx of forelimb digit 3|distal phalanx of 3rd finger|distal phalanx of third finger|forelimb pedal bone|distal phalanx of middle finger|distal phalanx of manual digit III|forelimb coffin bone|third distal phalanx of hand|equine forelimb distal phalanx|forelimb medial claw of artiodactyl|forelimb medial claw of ruminant hoof|third finger distal phalanx|distal phalanx of third digit of hand|3rd digit of hand distal phalanx FMA:23947 uberon owl:Class GO:0070091 biolink:NamedThing glucagon secretion The regulated release of glucagon from secretory granules in the A (alpha) cells of the pancreas (islets of Langerhans). tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0004716 biolink:NamedThing conceptus The embryo and its adnexa (appendages or adjunct parts) or associated membranes (i.e. the products of conception) The conceptus includes all structures that develop from the zygote, both embryonic and extraembryonic. It includes the embryo as well as the embryonic part of the placenta and its associated membranes - amnion, chorion (gestational sac), and yolk sac[WP]. tmpxe7fu0cj_hp_relaxed.owl embryo plus adnexa NCIT:C34131|EHDAA2:0003235|BTO:0003834|AEO:0000194|UMLS:C1516779|EHDAA2:0000001|Wikipedia:Conceptus|EMAPA:36040 EHDAA2 places this as a subtype of organism. This leads to the inference that a conceptus is an embryo (if an embryo is defined as an organism at embryo stage), which eliminates the embryonic + extra-embryonic = conceptus uberon owl:Class UBERON:0000068 biolink:NamedThing embryo stage A life cycle stage that starts with fertilization and ends with the fully formed embryo. tmpxe7fu0cj_hp_relaxed.owl embryonic stage|embryogenesis BilaDO:0000002|OGES:000000|XAO:1000012|EV:0300001|MmusDv:0000002|SCTID:296280003|FMA:72652|WBls:0000003|HsapDv:0000002|FBdv:00005289|WBls:0000102|WBls:0000092|OGES:000022 uberon owl:Class Nf4ba9ca39c9540d4a8a959388edc4076 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006284 biolink:NamedThing early prosencephalic vesicle Future brain vesicle that gives rise to telencephalic ventricle/lateral ventricles and 3rd ventricle. tmpxe7fu0cj_hp_relaxed.owl forebrain vesicle|prosencephalic vesicle|forebrain ventricle|prosencephalic ventricle|preevaginated forebrain vesicle TAO:0001259|EMAPA:16521|DHBA:10595|EHDAA:1356|VHOG:0000644|EHDAA2:0001571|ZFA:0001259 uberon owl:Class The early development of most vertebrate brains is similar (...). The zebrafish neural tube follows the same basic differentiation pattern as the mammalian neural tube (reference 1); The brain develops from three embryonic enlargements of the neural tube, which later differentiate into five regions. A forebrain differentiates into telencephalon and diencephalon. The midbrain, or mesencephalon, remains undivided. The hindbrain divides into the metencephalon and myelencephalon. Cavities within the brain enlarge to form a series of interconnected ventricles (reference 2).[well established][VHOG] UBERON:0006240 biolink:NamedThing future forebrain A presumptive structure that has the potential to develop into a forebrain. tmpxe7fu0cj_hp_relaxed.owl presumptive prosencephalon|future prosencephalon|presumptive forebrain|prosencephalon EHDAA2:0000661|Wikipedia:Prosencephalon|TAO:0000062|BAMS:Pros|ZFA:0000062|EHDAA:2643|EMAPA:16640|EFO:0003423 TODO. Add relationships to neural plate (both ZFA and EMAPA time this with the neural plate) uberon owl:Class HP:0008108 biolink:NamedThing Advanced tarsal ossification Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. tmpxe7fu0cj_hp_relaxed.owl Accelerated ankle bone maturation|Precociously ossified tarsal bones UMLS:C4280417|UMLS:C1849293 HP:0008137 human_phenotype owl:Class Ncea7698a544b4af5b5532d9e43801299 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013172 biolink:NamedThing cricotracheal ligament The cricotracheal ligament connects the cricoid cartilage with the first ring of the trachea[WP]. The caudal border of the cricoid cartilage is joined to the first ring of the trachea by this ligament. It is an extrinsic laryngeal ligament. It resembles the fibrous membrane which connects the cartilaginous rings of the trachea to each other. tmpxe7fu0cj_hp_relaxed.owl FMA:55259|NCIT:C32405|UMLS:C0225543 uberon owl:Class GO:0060784 biolink:NamedThing regulation of cell proliferation involved in tissue homeostasis Any process that modulates the frequency, rate or extent of cell proliferation resulting in the maintenance of a steady-state number of cells within a tissue. tmpxe7fu0cj_hp_relaxed.owl dph 2009-07-31T01:46:28Z biological_process owl:Class HP:0005104 biolink:NamedThing Hypoplastic nasal septum Underdevelopment of the nasal septum. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of septum of nose|Small septum of nose|Decreased size of septum of nose|Small nasal septum|Decreased size of nasal septum UMLS:C1861328 peter 2008-03-25T05:15:00Z human_phenotype owl:Class Nec5a80c9b5f044988a8c8f4bccb5121c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011871 biolink:NamedThing nasomaxillary suture A cranial suture that connects a nasal bone and connects a maxilla. tmpxe7fu0cj_hp_relaxed.owl articulation of the nasal bone with maxilla|nasomaxillary suture of skull FMA:52960 uberon owl:Class GO:0035577 biolink:NamedThing azurophil granule membrane The lipid bilayer surrounding an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. tmpxe7fu0cj_hp_relaxed.owl primary granule membrane bf 2010-10-05T01:29:10Z cellular_component owl:Class GO:0042582 biolink:NamedThing azurophil granule Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. tmpxe7fu0cj_hp_relaxed.owl primary granule cellular_component owl:Class GO:0006793 biolink:NamedThing phosphorus metabolic process The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). tmpxe7fu0cj_hp_relaxed.owl phosphorus metabolism biological_process owl:Class UBERON:0001708 biolink:NamedThing jaw skeleton Subdivision of skeleton which includes upper and lower jaw skeletons. tmpxe7fu0cj_hp_relaxed.owl mandibular arch skeleton|jaws|jaw|jaw cartilage|oral jaw skeleton|pharyngeal arch 1 skeleton|anterior splanchnocranium|visceral arch 1|mandibular arch Wikipedia:Jaw|MESH:D007568|ZFA:0001227|BTO:0001749|SCTID:181811001|EMAPA:35455|NCIT:C48821|FMA:54396|MA:0001905|galen:Jaw|OpenCyc:Mx4rvVjjEZwpEbGdrcN5Y29ycA|AAO:0000988|TAO:0001227|GAID:214|UMLS:C0022359 TODO - move ZFA:0001227 (it is the entire jaw skeleton). uberon owl:Class Skeletal and cartilage elements of the first pharyngeal arch.[TAO] There are cellular contributions from all three embryonic germ layers: pharyngeal mesoderm, endoderm and neural crest that migrates out of the ectoderm (Noden, 1983). in FMA, the jaw is an organism subdivision cluster, and includes mucosal tissue such as the gingiva as parts. It appears to be skeletal in MA (and has teeth as parts). It is reasonable to assume that ZFA and XAO consider the upper and lower jaws to be skeletal elements or clusters. EHDAA2 also considers these clusters. TODO - follow EHDAA2 model. These arbitrary differences in terminology and classification have to be reconciled with the genuine well-known biological differences in the skeletal elements across vertebrates CL:0001027 biolink:NamedThing CD7-negative lymphoid progenitor cell CD7-negative lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-negative and CD45RA-negative. tmpxe7fu0cj_hp_relaxed.owl CD7-negative lymphoid precursor These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000039)(PMID:19243617). cell owl:Class HP:0000467 biolink:NamedThing Neck muscle weakness Decreased strength of the neck musculature. tmpxe7fu0cj_hp_relaxed.owl Flaccid neck|Neck muscle weakness|Floppy neck UMLS:C0240479 human_phenotype owl:Class N6110a78132284747b5445ba489f56a71 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0010770 biolink:NamedThing positive regulation of cell morphogenesis involved in differentiation Any process that increases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001051 biolink:NamedThing hypopharynx Bottom part of the pharynx that connects to the esophagus. tmpxe7fu0cj_hp_relaxed.owl laryngeal pharynx|laryngopharynx|pars laryngea pharyngis EV:0100068|BTO:0001740|GAID:338|MESH:A03.867.490|OpenCyc:Mx4rvq5O0JwpEbGdrcN5Y29ycA|VHOG:0000445|UMLS:C0020629|NCIT:C12246|FMA:54880|CALOHA:TS-2020|MA:0001796|EHDAA2:0004574|EFO:0001388 Illu:pharynx.jpg uberon owl:Class The inferior portion of the pharynx, between the epiglottis and the larynx. [TFD][VHOG] hypopharyngeal HP:0010826 biolink:NamedThing Abnormality of the twelfth cranial nerve Abnormality of the twelfth cranial nerve. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cranial nerve 12|Abnormality of cranial nerve xii|Abnormality of the hypoglossal nerve UMLS:C4021224 peter 2010-07-10T03:58:00Z human_phenotype owl:Class N461c7cabaf0c4effaaec7fafe9f4b58f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nda60e9f8f6264145860c17b8cbfbb79b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:28789 biolink:NamedThing L-glucitol The L-enantiomer of glucitol. tmpxe7fu0cj_hp_relaxed.owl (2R,3S,4S,5S)-hexane-1,2,3,4,5,6-hexol|L-Glucitol|L-glucitol|L-sorbitol|D-gulitol|D-Gulitol|L-Sorbitol 0 C6H14O6 InChI=1S/C6H14O6/c7-1-3(9)5(11)6(12)4(10)2-8/h3-12H,1-2H2/t3-,4+,5-,6-/m0/s1 FBPFZTCFMRRESA-FSIIMWSLSA-N 182.17176 182.07904 OC[C@H](O)[C@H](O)[C@@H](O)[C@H](O)CO KEGG:C01722|CAS:6706-59-8|Beilstein:1721906|MetaCyc:CPD-12810|PMID:19695255|Gmelin:648560|ECMDB:ECMDB00247|YMDB:YMDB00724|Reaxys:1721906 CHEBI:21394|CHEBI:6223 chebi_ontology owl:Class UBERON:0004943 biolink:NamedThing submucosa of urinary bladder The submucous layer of the wall of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl urinary bladder submucosa|submucosa of bladder|tela submucosa vesicae|submucous layer of urinary bladder|bladder submucosa|tela submucosa (vesica urinaria)|tela submucosa vesicae urinariae BTO:0002117|FMA:15929|EMAPA:32275 uberon owl:Class UBERON:0001256 biolink:NamedThing wall of urinary bladder An anatomical wall that lines the insider of a urinary bladder. tmpxe7fu0cj_hp_relaxed.owl bladder wall|anatomical wall of urinary bladder|urinary bladder anatomical wall|wall of bladder|anatomical wall of bladder|urinary bladder wall|bladder anatomical wall EMAPA:35175|UMLS:C0458421|NCIT:C48941|BTO:0001462|FMA:15902|MA:0002493 uberon owl:Class HP:0003994 biolink:NamedThing Dislocated wrist An injury of the wrist with displacement of any of the eight carpal bones. tmpxe7fu0cj_hp_relaxed.owl Dislocated wrist|Dislocations of the wrists SNOMEDCT_US:125618007|MEDDRA:10013184|UMLS:C0159941 HP:0004992 human_phenotype owl:Class N3e505f2fcea1404bb49d12502e07e72e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0016454 biolink:NamedThing upper central secondary incisor tooth tmpxe7fu0cj_hp_relaxed.owl upper central permanent incisor tooth|maxillary central secondary incisor tooth|permanent upper central incisor tooth|maxillary central permanent incisor tooth FMA:55722 uberon owl:Class GO:0044058 biolink:NamedThing regulation of digestive system process Any process that modulates the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0007369 biolink:NamedThing gastrulation A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Gastrulation biological_process owl:Class UBERON:0015106 biolink:NamedThing distal tarsal bone 2 cartilage A distal tarsal bone 2 endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl distal tarsal 2 cartilage element|distal tarsal 2 cartilage uberon owl:Class CL:0000319 biolink:NamedThing mucus secreting cell tmpxe7fu0cj_hp_relaxed.owl mucous cell BTO:0003689 cell owl:Class UBERON:0002122 biolink:NamedThing capsule of thymus The fibrous connective tissue surrounding the thymus. tmpxe7fu0cj_hp_relaxed.owl thymic capsule|thymus capsule FMA:72204|UMLS:C0229945|EMAPA:19306|NCIT:C33770|MA:0000766 uberon owl:Class HP:0100944 biolink:NamedThing Sclerosis of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the outermost bone of the big toe UMLS:C4021914 human_phenotype owl:Class Nb2162fd71f5b44e7aa7cb2c61353c622 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf29659542d0243b5b3ca8a731162447a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:2000261 biolink:NamedThing negative regulation of blood coagulation, common pathway Any process that stops, prevents or reduces the frequency, rate or extent of blood coagulation, common pathway. tmpxe7fu0cj_hp_relaxed.owl mah 2010-11-23T11:42:44Z biological_process owl:Class UBERON:0003382 biolink:NamedThing cardiac muscle of left ventricle A portion of cardiac muscle tissue that is part of a left ventricle [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl left ventricle cardiac muscle|left ventricular cardiac muscle tissue|cardiac muscle tissue of left ventricle VHOG:0001234|FMA:83453|EMAPA:17339 uberon owl:Class UBERON:0012477 biolink:NamedThing dorsal part of neck The posterior region of the neck, including the suboccipital region. tmpxe7fu0cj_hp_relaxed.owl posterior part of neck|nape|neck back|regio cervicalis posterior|hindneck|back of neck|nape of neck|nucha|posterior cervical region|posterior neck region|nuchal region BTO:0000957|FMA:24189 uberon owl:Class nuchal HP:0041210 biolink:NamedThing Fractured lateral malleolus of fibula A partial or complete breakage of the lateral malleolus of fibula. tmpxe7fu0cj_hp_relaxed.owl bone lateral malleolus of fibula owl:Class N28bfa29818ae43bca5ffd126d6d026e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001004 biolink:NamedThing respiratory system Functional system which consists of structures involved in respiration. tmpxe7fu0cj_hp_relaxed.owl systema respiratorium|respiratory system|Atmungssystem|apparatus respiratorius ZFA:0000272|MESH:D012137|FMA:7158|EHDAA2:0001604|UMLS:C0035237|OpenCyc:Mx4rvVjzFJwpEbGdrcN5Y29ycA|XAO:0000117|MAT:0000030|CALOHA:TS-1319|TAO:0000272|EFO:0000804|SCTID:278197002|MA:0000327|AAO:0000541|MIAA:0000030|GAID:78|NCIT:C12779|BTO:0000203|EV:0100036|EMAPA:16727|EHDAA:2203|VHOG:0000202|Wikipedia:Respiratory_system http://upload.wikimedia.org/wikipedia/commons/5/5e/Respiratory_system_complete_en.svg uberon owl:Class The anatomical system in which the exchange of oxygen and carbon dioxide between the organism and its environment.[AAO] There is no doubt that the primitive pattern of vertebrate air-breathing is the buccal pulse pump found in actinopterygian fishes.[well established][VHOG] GO:0007585 biolink:NamedThing respiratory gaseous exchange by respiratory system The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. tmpxe7fu0cj_hp_relaxed.owl respiration|breathing biological_process owl:Class Nc13ed6a9d7344c78b3f57278df5dd9e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040294 biolink:NamedThing Duplicated tongue tmpxe7fu0cj_hp_relaxed.owl Tongue duplication|Tongue duplicated|Duplication of tongue owl:Class N86a1826d6f734be5a4197b777e729b8d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0010482 biolink:NamedThing regulation of epidermal cell division Any process that modulates the frequency, rate or extent of the physical partitioning and separation of an epidermal cell into daughter cells. An epidermal cell is any of the cells that make up the epidermis. tmpxe7fu0cj_hp_relaxed.owl regulation of hypodermal cell division biological_process owl:Class GO:0010481 biolink:NamedThing epidermal cell division Any process resulting in the physical partitioning and separation of an epidermal cell, any of the cells making up the epidermis, into daughter cells. tmpxe7fu0cj_hp_relaxed.owl hypodermal cell division biological_process owl:Class UBERON:0015100 biolink:NamedThing distal tarsal cartilage A distal tarsal endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0004710 biolink:NamedThing pectoral appendage Paired appendage that consists of the anterior appendicular skeleton and associated soft and hard tissues, but excludes the pectoral girdle and its associated soft and hard tissues. tmpxe7fu0cj_hp_relaxed.owl anterior limb/fin|pectoral limb/fin|forelimb or pectoral fin|forelimb - pectoral fin|anterior appendage|anterior paired appendage|forelimb/pectoral fin VSAO:0000125|VHOG:0001753 UBERON:0009875 uberon owl:Class While the skeletons of teleost pectoral fins and tetrapod forelimbs are homologous at the level of endoskeletal radials, teleosts and tetrapods do not share homologous skeletal elements at the level of 'individuated' pro-, meso-, and metapterygia. Among osteichthyans, only basal actinopterygians retain the full complement of elements present in non-osteichthyan gnathostomes.[uncertain][VHOG] UBERON:0001421 biolink:NamedThing pectoral girdle region An organism subdivision that includes the pectoral girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. tmpxe7fu0cj_hp_relaxed.owl girdle - pectoral|pectoral girdle|pectoral region|shoulder girdle|cingulum membri superioris|upper limb girdle FMA:23217|galen:ShoulderGirdle|VSAO:0000305|EMAPA:37856 this class describes the organism subdivision, NOT the skeleton within. See also: skeleton of pectoral girdle (UBERON:0007831). uberon owl:Class An organism subdivision that includes the pectoral girdle skeleton. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). There is only one instance of the pectoral girdle region per organism.[VSAO] Note that this class describes the central subdivision of the pectoral girdle complex, NOT the skeleton within.[VSAO] GO:0060979 biolink:NamedThing vasculogenesis involved in coronary vascular morphogenesis The differentiation of endothelial cells from progenitor cells that contributes to blood vessel development in the heart, and the de novo formation of blood vessels and tubes. tmpxe7fu0cj_hp_relaxed.owl coronary vasculogenesis|vasculogenesis involved in coronary blood vessel morphogenesis dph 2009-10-06T02:19:42Z biological_process owl:Class GO:0060977 biolink:NamedThing coronary vasculature morphogenesis The process in which the anatomical structures of blood vessels of the heart are generated and organized. The blood vessel is the vasculature carrying blood. tmpxe7fu0cj_hp_relaxed.owl heart blood vessel morphogenesis|heart vasculature morphogenesis|cardiac vasculature morphogenesis|coronary blood vessel morphogenesis|cardiac blood vessel morphogenesis dph 2009-10-06T12:28:23Z biological_process owl:Class HP:0005450 biolink:NamedThing Calvarial osteosclerosis An increase in bone density affecting the calvaria (roof of the skull). tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855657 human_phenotype owl:Class Nb6261754b9cb42128f4a15327d823a4c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N40e57e8b46e8431b8142baa8de091ba3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010130 biolink:NamedThing embryonic autopod plate The distal elements of the developing limb of vertebrates that will give rise to the autopod (e.g. manus, pes, paw). tmpxe7fu0cj_hp_relaxed.owl autopod plate|limb plate uberon owl:Class UBERON:0006863 biolink:NamedThing proximal metaphysis of femur A proximal metaphysis that is part of a femur. tmpxe7fu0cj_hp_relaxed.owl FMA:32878 uberon owl:Class UBERON:0009744 biolink:NamedThing lymph node medullary sinus The channels in the lymph node medulla that separate the medullary cords and are crossed by a reticulum of cells and fibers and bounded by littoral cells; lymph flows through the medullary sinus from the cortical sinuses and into the efferent lymphatic vessels. tmpxe7fu0cj_hp_relaxed.owl lymph node medullary sinusoid|medullary sinus EMAPA:37898|FMA:312359 Lymph flows into the medullary sinuses from cortical sinuses, and into efferent lymphatic vessels. Medullary sinuses contain histiocytes (immobile macrophages) and reticular cells.[WP] uberon owl:Class UBERON:0002007 biolink:NamedThing medulla of lymph node The medullary portion of the lymph node, which contains large blood vessels, sinuses and medullary cords that contain antibody-secreting plasma cells. tmpxe7fu0cj_hp_relaxed.owl medulla nodi lymphoidei|lymph node medulla MA:0000745|FMA:66254|EMAPA:35529 uberon owl:Class UBERON:0001377 biolink:NamedThing quadriceps femoris One of the muscles belong to the group consisting of the rectus femoris and the three heads of the vastus (lateralis, medialis, intermedius). tmpxe7fu0cj_hp_relaxed.owl musculus quadriceps femoris|quadriceps muscle of thigh|quadricep muscle|quadriceps muscle of the thigh|quadriceps muscle|quadriceps femoris muscle|quadriceps EHDAA:8299|FMA:22428|galen:QuadricepsFemoris|MA:0002363|EMAPA:19146|EHDAA2:0001583|NCIT:C33441|OpenCyc:Mx4rvVjd-JwpEbGdrcN5Y29ycA|BTO:0001149|VHOG:0000828|EFO:0001938|UMLS:C0224440 http://upload.wikimedia.org/wikipedia/commons/5/57/Illu_lower_extremity_muscles.jpg uberon owl:Class The quadriceps is a collective term for the rectus femoris and the three heads of the vastus (lateralis, medialis, intermedius). [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.391][VHOG] N7b6fb6c902794417b47bd9b18199c3d4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0045835 biolink:NamedThing negative regulation of meiotic nuclear division tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0000230 biolink:NamedThing Gingivitis Inflammation of the gingiva. tmpxe7fu0cj_hp_relaxed.owl Red and swollen gums|Inflamed gums|Gingival inflammation UMLS:C0017574|SNOMEDCT_US:66383009|MSH:D005891 human_phenotype owl:Class N24b87ce869df42acb661f604374ac2b3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009615 biolink:NamedThing midbrain hindbrain boundary neural plate tmpxe7fu0cj_hp_relaxed.owl MHB neural plate|midbrain-hindbrain boundary neural plate TAO:0007044|ZFA:0007044 TODO - developmental relationships for lines uberon owl:Class UBERON:0007281 biolink:NamedThing presumptive midbrain hindbrain boundary Embryonic structure that gives rise to the midbrain hindbrain boundary. tmpxe7fu0cj_hp_relaxed.owl presumptive MHB|presumptive midbrain-hindbrain boundary EFO:0003446|ZFA:0001187|TAO:0001187|XAO:0004086 uberon owl:Class UBERON:0001737 biolink:NamedThing larynx A continuation of the pharynx that is involved in breathing, sound production, and protecting the trachea against food aspiration. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-0532|EV:0100039|Wikipedia:Larynx|VHOG:0001279|galen:Larynx|BTO:0001208|MESH:D007830|UMLS:C0023078|NCIT:C12420|EMAPA:18333|XAO:0003081|EFO:0000838|EHDAA2:0004063|MIAA:0000187|AAO:0000268|GAID:108|MAT:0000187|MA:0000414|FMA:55097|OpenCyc:Mx4rvViOnZwpEbGdrcN5Y29ycA|SCTID:181212004 http://upload.wikimedia.org/wikipedia/commons/8/8a/Larynx_external_en.svg uberon owl:Class An anatomical cluster consisting of the epiglottus, the arytenoid cartilages, the thyroid cartilage, the cricoid cartilage and the muscles, membranes, and ligaments connecting them, and also of the mucosal covering these structures.[FEED]|Anatomical structure consisting of a narrowly triangular chamber supported by a series of semicircular cartilages in which part of the sound-production system is located.[AAO] (In anura) a dorsal pair of arytenoid cartilages (...), which support vocal cords, and a ventral pair (often fused) of cricoid cartilage (...). These cartilages are regarded as derivatives of posterior visceral arches of ancestors. Together they constitute the larynx, a structure characteristic of tetrapods. (...) (In mammals) Paired arytenoid cartilages help support and control the vocal cords. The cricoid cartilage is single. Two additional cartilages are present that are lacking in other vertebrates: a large ventral thyroid cartilage (...) and a cartilage in the epiglottis.[well established][VHOG] laryngeal N5008fe59987e468d9044dee271f3eb56 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001463 biolink:NamedThing manual digit 1 1st (preaxial) digit of the manus[Wikipedia]. tmpxe7fu0cj_hp_relaxed.owl digitus 1|manual digit I|manual digit 1|hand digit 1|forelimb dewclaw|fore limb digit 1|pollex|first digit of hand|thumb|digitus primus|digitus I|digitus primus [I]|digit 1 of fore-paw|alula|fore digit I|digit 1 of manus|first finger|finger 1 NCIT:C52834|FMA:24938|MESH:D013933|EMAPA:17429|EHDAA2:0000511|GAID:58|MA:0000454|OpenCyc:Mx4rvVjVbpwpEbGdrcN5Y29ycA|AAO:0010639|UMLS:C0040067 Thumbs:up.jpg|http://upload.wikimedia.org/wikipedia/commons/6/64/Thumb-up.jpg uberon owl:Class Not present in Anurans (Phenotype RCN Oct 2012)|This class represents the standard tetrapod configuration. Wagner proposes that avian digits I,II,III develop from C2,C3,C4. To support this scheme we have separate classes representing the avian digits (here called alula, manual digit, major digit). GO:0030901 biolink:NamedThing midbrain development The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles). tmpxe7fu0cj_hp_relaxed.owl mesencephalon development biological_process owl:Class HP:0011580 biolink:NamedThing Short chordae tendineae of the mitral valve Abnormally short chordae tendineae of the mitral valve. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023288 The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve in the heart. peter 2012-04-08T12:01:44Z human_phenotype owl:Class N46c9b98ac8384313a49e3af8fb9f0581 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N719fb594537d4988b081d8c179299264 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0033602 biolink:NamedThing negative regulation of dopamine secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of dopamine. tmpxe7fu0cj_hp_relaxed.owl downregulation of dopamine secretion|inhibition of dopamine secretion|down-regulation of dopamine secretion|down regulation of dopamine secretion biological_process owl:Class UBERON:5002389 biolink:NamedThing manual digit plus metapodial segment A subdivision of the autopod consisting of manual digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl manual digit digitopodial subdivision|manual digit ( phalanges plus metapodial) plus soft tissue|manual digit|manual digit ray this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class UBERON:0010743 biolink:NamedThing meningeal cluster The collection of all meningeal layers that line a central nervous system. tmpxe7fu0cj_hp_relaxed.owl cluster of meninges|meninges|cerebral meninges Wikipedia:Meninges|EHDAA2:0004661|EMAPA:32660|FMA:231572|SCTID:362879001|UMLS:C0228116|NCIT:C12349|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1465 uberon owl:Class meningeal In some primitive organisms, the meningeal cluster includes only the primitive meninx UBERON:0010698 biolink:NamedThing manual digit metacarpus pre-cartilage condensation tmpxe7fu0cj_hp_relaxed.owl metacarpal bone pre-cartilage condensation|metacarpal pre-cartilage condensation|hand digit metacarpus pre-cartilage condensation|metacarpus pre-cartilage condensation|fore limb digit metacarpus pre-cartilage condensation VHOG:0000953|EMAPA:32850 uberon owl:Class GO:0030282 biolink:NamedThing bone mineralization The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue. tmpxe7fu0cj_hp_relaxed.owl bone calcification biological_process owl:Class GO:0009913 biolink:NamedThing epidermal cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an epidermal cell, any of the cells making up the epidermis. tmpxe7fu0cj_hp_relaxed.owl hypodermal cell differentiation GO:0043355 biological_process owl:Class UBERON:0001567 biolink:NamedThing cheek A fleshy subdivision of one side of the face bounded by an eye, ear and the nose. tmpxe7fu0cj_hp_relaxed.owl jowl|buccae BTO:0001754|EMAPA:37451|galen:Cheek|MA:0002475|UMLS:C0007966|TAO:0002113|MESH:D002610|GAID:65|OpenCyc:Mx4rvVi5WZwpEbGdrcN5Y29ycA|FMA:46476|NCIT:C13070 Chica:cachetona.jpg uberon owl:Class Surface structure that includes the scales, skin, and muscles that are located ventral and posterior to the eye.[TAO] buccal In many animals the inside of the cheek is lined with mucous membrane covered with stratified squamous epithelium and supplied with secretions from buccal glands. CHEBI:12109 biolink:NamedThing 5-aminolevulinate tmpxe7fu0cj_hp_relaxed.owl 5-amino-4-oxopentanoate -1 C5H8NO3 InChI=1S/C5H9NO3/c6-3-4(7)1-2-5(8)9/h1-3,6H2,(H,8,9)/p-1 ZGXJTSGNIOSYLO-UHFFFAOYSA-M 130.12196 130.05097 NCC(=O)CCC([O-])=O Beilstein:3937762 chebi_ontology owl:Class CHEBI:39150 biolink:NamedThing 4-oxopentanoate A member of the class of oxopentanoates that is the conjugate base of 4-oxopentanoic acid. tmpxe7fu0cj_hp_relaxed.owl 4-oxovalerate|4-oxopentanoate|levulate|levulinate|gamma-ketovalerate|4-ketovalerate|3-acetylpropionate|laevulinate|beta-acetylpropionate -1 C5H7O3 InChI=1S/C5H8O3/c1-4(6)2-3-5(7)8/h2-3H2,1H3,(H,7,8)/p-1 JOOXCMJARBKPKM-UHFFFAOYSA-M 115.10728 115.04007 CC(=O)CCC([O-])=O Gmelin:325844|Reaxys:3537533|Beilstein:3537533 chebi_ontology owl:Class PR:P00439 biolink:NamedThing phenylalanine-4-hydroxylase (human) A phenylalanine-4-hydroxylase that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl Phe-4-monooxygenase (human)|hPAH|PAH UniProtKB:P00439 Category=organism-gene. protein owl:Class HGNC:8582 biolink:NamedThing PAH (human) A protein coding gene PAH in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class HP:0100157 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the innermost bone of the 3rd toe UMLS:C4022264 doelkens 2010-06-24T10:24:45Z human_phenotype owl:Class N571b0ca599cb42e9b65097a5055f98f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013678 biolink:NamedThing anatomical line between inner canthi An anatomical line of the face that connects the two inner (medial) canthi of the eye. The length of this line is known as the inter canthal distance. tmpxe7fu0cj_hp_relaxed.owl intercanthal line|inter medial canthal line|bicanthal plane|inter-canthal line|inter inner canthal line FMA:284806 uberon owl:Class GO:0043588 biolink:NamedThing skin development The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue. tmpxe7fu0cj_hp_relaxed.owl animal skin development biological_process owl:Class N542ceab959c847448430dfc019cfe689 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010808 biolink:NamedThing Protruding tongue Tongue extending beyond the alveolar ridges or teeth at rest. tmpxe7fu0cj_hp_relaxed.owl Prolapse of tongue|Tongue protrusion|Lingual protrusion|Lingual prominence|Tongue sticking out of mouth|Lingual prolapse|Protruding tongue|Prominent tongue SNOMEDCT_US:285503005|SNOMEDCT_US:249872000|UMLS:C0241442 Protruding tongue may or may not be associated with a Large tongue, and that finding should be assessed and coded separately. peter 2010-07-02T09:38:37Z human_phenotype owl:Class N1b82222ae1354622a3a497180f4fb32c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0041180 biolink:NamedThing Fractured distal phalanx of pedal digit 1 A partial or complete breakage of the distal phalanx of pedal digit 1. tmpxe7fu0cj_hp_relaxed.owl bone distal phalanx of pedal digit 1 owl:Class N21927ec8e8194bbca2d1b59fe6b1063a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004100 biolink:NamedThing renal collecting system The collecting duct system of the kidney consists of a series of tubules and ducts that connect the nephrons to the ureter. It participates in electrolyte and fluid balance through reabsorption and excretion, processes regulated by the hormones aldosterone and antidiuretic hormone. tmpxe7fu0cj_hp_relaxed.owl kidney collecting duct system|collecting duct system|tubulus renalis colligens FMA:265239 http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png uberon owl:Class Nca64c376ee0c4c899786976dbf99dea2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004727 biolink:NamedThing cochlear nerve A nerve in the head that carries signals from the cochlea of the inner ear to the brain. It is part of the vestibulocochlear nerve, the 8th cranial nerve which is found in higher vertebrates; the other portion of the 8th cranial nerve is the vestibular nerve which carries spatial orientation information from the semicircular canals. The cochlear nerve is a sensory nerve, one which conducts to the brain information about the environment, in this case acoustic energy impinging on the tympanic membrane. The cochlear nerve arises from within the cochlea and extends to the brainstem, where its fibers make contact with the cochlear nucleus, the next stage of neural processing in the auditory system[WP]. tmpxe7fu0cj_hp_relaxed.owl cochlear component|cochlear root of acoustic nerve|cochlear root of eighth cranial nerve|auditory nerve|vestibulocochlear VIII nerve cochlear component|nervus vestibulocochlearis|vestibulocochlear nerve cochlear component EHDAA2:0002195|VHOG:0001182|GAID:723|BTO:0003490|BM:VIIIN|FMA:53431|MA:0001110|BAMS:cVIIIn|OpenCyc:Mx4rwIhQfZwpEbGdrcN5Y29ycA|UMLS:C0009201|MBA:948|NCIT:C12697|EMAPA:17802|MESH:D003056 uberon owl:Class HP:0003871 biolink:NamedThing Deformed humerus tmpxe7fu0cj_hp_relaxed.owl Deformed long bone in upper arm UMLS:C4025539 human_phenotype owl:Class N179f3385f29b41f5b78996d3de051b79 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:58126 biolink:NamedThing porphobilinogen(1-) Conjugate base of porphobilinogen arising from deprotonation of the two carboxy groups and protonation of the amino group; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl porphobilinogen|3-[5-(azaniumylmethyl)-4-(carboxylatomethyl)-1H-pyrrol-3-yl]propanoate|porphobilinogen anion -1 C10H13N2O4 InChI=1S/C10H14N2O4/c11-4-8-7(3-10(15)16)6(5-12-8)1-2-9(13)14/h5,12H,1-4,11H2,(H,13,14)(H,15,16)/p-1 QSHWIQZFGQKFMA-UHFFFAOYSA-M 225.22120 225.08808 [NH3+]Cc1[nH]cc(CCC([O-])=O)c1CC([O-])=O chebi_ontology owl:Class UBERON:0001452 biolink:NamedThing distal tarsal bone 1 Endochondral tarsal bone articulating with centralia and metatarsal 1. tmpxe7fu0cj_hp_relaxed.owl cuneiforme 1|os cuneiforme primum|medial cuneiform bone|ossa cuneiforme mediale|os tarsale I|first cuneiform bone|tarsal 1|first cuneiform|distal tarsal 1|os cuneiform primum|entocuneiforme|os cuneiforme mediale|1st cuneiform|distal tarsal 1 bone|medial cuneiform|foot distal carpal bone 1 galen:MedialCuneiform|UMLS:C1512869|EMAPA:36176|NCIT:C32840|BTO:0002360|AAO:0000918|FMA:24518|OpenCyc:Mx4rvYtfH5wpEbGdrcN5Y29ycA|MA:0001352|VSAO:0005052 http://upload.wikimedia.org/wikipedia/commons/8/81/Gray290.png uberon owl:Class Small element that articulates with the prehallux, metatarsal I and element Y. It may be fused to tarsal 2.[AAO] HP:0100861 biolink:NamedThing Sclerotic vertebral body Increase in bone density of the vertebral body. tmpxe7fu0cj_hp_relaxed.owl Vertebral body sclerosis UMLS:C4021951 doelkens 2011-11-30T10:12:34Z HP:0004578 human_phenotype owl:Class Nf7508472b0e34a15b92537e63e166050 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008571 biolink:NamedThing suprahyoid muscle A muscle in the region above the hyoid bone in the neck. The suprahyoid muscles include digastric, stylohyoid, geniohyoid, and mylohyoid. tmpxe7fu0cj_hp_relaxed.owl suprahyoid|musculi suprahyoidei|suprahyoidala FMA:46290 Suprahyoid:muscles.png uberon https://github.com/obophenotype/uberon/issues/697 owl:Class UBERON:0001685 biolink:NamedThing hyoid bone A horseshoe shaped bone situated in the anterior midline of the neck between the chin and the thyroid cartilage. The hyoid bone provides attachment to the muscles of the floor of the mouth and the tongue above, the larynx below, and the epiglottis and pharynx behind. [WP,modified]. tmpxe7fu0cj_hp_relaxed.owl hyoideum|hyoid|os hyoideum|hyoid bone|lingual bone GAID:197|FMA:52749|SCTID:263352000|AAO:0000684|NCIT:C32752|Wikipedia:Hyoid_bone|MA:0001484|VHOG:0001325|EMAPA:18650|UMLS:C0020417|MESH:D006928 http://upload.wikimedia.org/wikipedia/commons/1/1f/Gray186.png uberon owl:Class Paired processes that extend posterolaterally from the posterior margin of the hyoid plate. These processes are the ossified posteromedial processes and invest the laryngeal apparatus.[AAO] relationship loss: part_of hyoid plate (AAO:0000664)[AAO] The hyoid bone is derived from the lower half of the second gill arch in fish, which separates the first gill slit from the spiracle. In many animals, it also incorporates elements of other gill arches, and has a correspondingly greater number of cornua. Amphibians and reptiles may have many cornua, while mammals (including humans) have two pairs, and birds only one. In birds, and some reptiles, the body of the hyoid is greatly extended forward, creating a solid bony support for the tongue. The howler monkey Alouatta has a pneumatized hyoid bone, one of the few cases of postcranial pneumatization of bones outside Saurischia. HP:0009182 biolink:NamedThing Triangular shaped middle phalanx of the 5th finger Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped middle pinkie finger bone|Triangular shaped middle pinky finger bone|Triangular shaped middle little finger bone UMLS:C4024552 peter 2008-12-29T04:05:33Z human_phenotype owl:Class Ncd2dbcc2c592465282acc3afac9fe6e4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0002158 biolink:NamedThing osteoclast proliferation The multiplication or reproduction of osteoclasts, resulting in the expansion of an osteoclast cell population. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, which typically differentiates from monocytes. tmpxe7fu0cj_hp_relaxed.owl hjd 2010-02-03T01:50:37Z biological_process owl:Class N811a0325a1d4496aaa875d6fadd66f21 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001736 biolink:NamedThing submandibular gland Either of the paired compound tubuloalveolar (aka tubuloacinar) major salivary glands composed of both serous and mucous secretory cells and situated beneath the mandible. tmpxe7fu0cj_hp_relaxed.owl glandula submandibularis|mandibular salivary gland|mandibular gland|submaxillary gland|maxillary gland|submandibular salivary gland MESH:D013363|EFO:0001387|EMAPA:18812|CALOHA:TS-0988|GAID:942|BTO:0001316|NCIT:C12233|EV:0100061|FMA:55093|UMLS:C0038556|MA:0001589|VHOG:0000364 lobular, sexually dimorphic in mouse http://upload.wikimedia.org/wikipedia/commons/5/51/Illu_quiz_hn_02.jpg uberon owl:Class Either of two major salivary glands situated in the neck near the lower edge of each side of the mandible and emptying into the submandibular duct. [TFD][VHOG] The most common oral glands in mammals are the salivary glands. There are usually three primary pairs of salivary glands, named for their approximate positions: mandibular (submandibular or submaxillary), sublingual, and parotid.[well established][VHOG] In humans, they account for 70% of the salivary volume and weigh about 15 grams. [WP,unvetted]|In mouse, multilobed and lobulated, on the ventral midline of the neck|in mice, submandibular gland development initiates as a thickening of the oral epithelium; around E12 an initial (single) epithelial bud on a stalk grows into a condensing neural crest-derived mesenchyme; clefts in the epithelium result in 3-5 epithelial buds at E13.5, and branching morphogenesis occurs with continued proliferation, successive rounds of cleft formation, duct elongation, and duct lumen formation, so that by E14 the gland is highly branched (multi-lobed); functional differentiation, with the appearance of proacinar cells and secretory products begins after E15 and continues to birth; acinar differentiation continues postnatally with final differentiation of the granular convoluted tubules at puberty[MGI:anna] The submandibular is the first major salivary gland to develop in the embryo, followed by the neighbouring sublingual and then the parotid.[PMID:17336109] The term submandibular as used in humans, is incorrect due the difference in topography of these structures[http://www.avdc.org] HP:0032097 biolink:NamedThing Hypermanganesemia An elevation above the normal concentration of manganese in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased blood manganese concentration 2018-11-04 11:12:18+00:00 peter owl:Class N17c280ba0aa94d44bfba7609939b8d59 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001901 biolink:NamedThing epithelium of trachea The epithelial lining of the trachea which contains numerous ciliated cells. tmpxe7fu0cj_hp_relaxed.owl tracheal epithelium|epithelial tissue of trachea|epithelial tissue of windpipe|trachea epithelial tissue|epithelium of windpipe|windpipe epithelial tissue|windpipe epithelium|trachea epithelium VHOG:0001045|EMAPA:16855|BTO:0001389|FMA:62015|NCIT:C33797|EHDAA:5007|MA:0001862|CALOHA:TS-1061|EHDAA2:0002069|EMAPA:18409|UMLS:C1179002 UBERON:0003227 uberon owl:Class UBERON:0003126 biolink:NamedThing trachea The trachea is the portion of the airway that attaches to the bronchi as it branches [GO:dph]. tmpxe7fu0cj_hp_relaxed.owl vertebrate trachea|cartilaginous trachea|windpipe|tracheal tubule EHDAA2:0002066|NCIT:C12428|EHDAA:3078|AAO:0010140|MAT:0000137|FMA:7394|EFO:0000935|UMLS:C0040578|CALOHA:TS-1060|GAID:361|MA:0000441|EMAPA:16853|OpenCyc:Mx4rvViOX5wpEbGdrcN5Y29ycA|MESH:D014132|BTO:0001388|XAO:0000118|EV:0100040|MIAA:0000137|VHOG:0000371 http://upload.wikimedia.org/wikipedia/commons/9/9f/Illu_conducting_passages.svg|http://upload.wikimedia.org/wikipedia/commons/c/c3/Illu_conducting_passages.jpg uberon owl:Class The respiratory tube between the larynx and the bronchi. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]|An elongated tube which carries air to and from the lungs.[AAO] In primitive fishes and most tetrapods, the lungs of adults are usually paired. They lie ventral to the digestive tract and are connected to the outside environment through the trachea.[well established][VHOG] tracheal in mouse 15-18 C-rings, 15-20 in human.|In birds, the trachea runs from the pharynx to the syrinx, from which the primary bronchi diverge. Swans have an unusually elongated trachea, part of which is coiled beneath the sternum; this may act as a resonator to amplify sound. In some birds, the cartilagenous rings are complete, and may even be ossified. In amphibians, the trachea is normally extremely short, and leads directly into the lungs, without clear primary bronchi. A longer trachea is, however found in some long-necked salamanders, and in caecilians. While there are irregular cartilagenous nodules on the amphibian trachea, these do not form the rings found in amniotes. The only vertebrate to have lungs, but no trachea, is Polypterus, in which the lungs arise directly from the pharynx. UBERON:0001890 biolink:NamedThing forebrain The most anterior region of the brain including both the telencephalon and diencephalon. tmpxe7fu0cj_hp_relaxed.owl prosencephalon|FB AAO:0010147|SCTID:362291003|EHDAA2:0000556|EFO:0000909|VHOG:0000383|MA:0000170|FMA:61992|DMBA:15566|CALOHA:TS-0380|DHBA:10156|BTO:0000478|ZFA:0000109|MIAA:0000105|XAO:0000011|BAMS:Forebrain|MAT:0000105|NCIT:C40185|BAMS:FB|EHDAA:3470|UMLS:C0085140|EMAPA:16895|BIRNLEX:1509|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=27|TAO:0000109|MESH:D016548|Wikipedia:Forebrain http://upload.wikimedia.org/wikipedia/commons/5/54/EmbryonicBrain.svg uberon owl:Class Most anterior of the three regions of the brain consisting of the telencephalon and diencephalon.[AAO]|The most anterior region the brain including both the telencephalon and diencephalon. Kimmel et al, 1995.[TAO] relationship loss: develops_from forebrain neural tube (TAO:0007041)[TAO] In craniate embryos, neural expression of Distal-less-related genes is exclusively in the forebrain (...). Because the major neural expression domain of amphioxus AmphiDll is in the anterior three-fourths of the cerebral vesicle, we suggest that this region of the neural tube is homologous to parts of the craniate forebrain. This conclusion is strongly supported by three-dimensional, computer-assisted reconstruction of the neural tube of amphioxus based on serial transmission electron microscopy. At the neuroanatomical level, a number of detailed homologies are indicated between the anterior three-fourths of the amphioxus cerebral vesicle and the diencephalic region of the craniate forebrain. If one assumes that the amphioxus condition fairly represents the nervous system of the proximate ancestor of the craniates, one can suggest that they evolved from a creature that had the beginnings of a forebrain.[well established][VHOG] prosencephalic HP:0009226 biolink:NamedThing Short proximal phalanx of the 5th finger Hypoplastic/small proximal phalanx of the fifth finger. tmpxe7fu0cj_hp_relaxed.owl Short innermost little finger bone|Hypoplastic/small proximal phalanx of the 5th finger|Short proximal phalanx of the fifth finger|Short innermost pinkie finger bone|Short innermost pinky finger bone UMLS:C4021509 doelkens 2009-01-05T06:01:34Z human_phenotype owl:Class N91f012aead0e42bdbc5728444d91cc91 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008598 biolink:NamedThing risorius muscle Facial muscle that attaches to the fascia of the masseter muscle and the facia of the skin in the region of the corner (angle) of the mouth. Even in species in which this muscle is present, it is highly variable. A true risorius muscle may only be present in Hominins (humans and great apes). See Diogo 2008; Diogo et al., 2009; Burrows et al.., 2011., also DuBrul, 1980. tmpxe7fu0cj_hp_relaxed.owl risorius|musculus risorius MFMO:0000141|FMA:46838 http://upload.wikimedia.org/wikipedia/commons/a/af/Musculusrisorius.png uberon owl:Class UBERON:0004753 biolink:NamedThing scapulocoracoid Skeletal element that consists of the scapula and the coracoid[VSAO, modified]. tmpxe7fu0cj_hp_relaxed.owl coraco-scapular cartilage|scapulocoracoid cartilage|scapulocoracoideum|scapulo-coracoid cartilage VSAO:0005002|AAO:0000781|TAO:0001455|ZFA:0001455 todo - decide whether to create separate classes for cartilage & ossified. Wikipedia considers this absent in Therians, but if considered as a grouping of scapula and coracoid then it would be present uberon owl:Class Pectoral fin cartilage that consists of a paired cartilaginous plate of the embryonic primary pectoral girdle and from which the scapular and coracaoid bones ossify.[TAO]|either a fusion of the scapula and coracoid (the two main bones of the shoulder girdle), or the scapula & coracoid considered as a single structural unit.[Palaeos]|Fused, ossified portions of the scapula, procoracoid, and coracoid.[AAO] relationship loss: part_of scapular area (AAO:0000935)[AAO] ZFA defines as precursor to scapula and coracoid. Cartilage in TAO UBERON:0007831 biolink:NamedThing pectoral girdle skeleton A subdivision of a limb or fin skeleton consisting of bones which connects the upper limb or fin to the axial skeleton on each side. It consists of the clavicle and scapula in humans and, in those species with three bones in the pectoral girdle, the coracoid. Some mammalian species (e.g. the dog and the horse) have only the scapula. In humans, the only joints between the shoulder girdle and axial skeleton are the sternoclavicular joints on each side. No joint exists between each scapula and the rib cage; instead the muscular connection between the two permits relatively great mobility of the shoulder girdle in relation to the pelvic girdle. In those species having only the scapula, no joint exists between the forelimb and the thorax, the only attachment being muscular[WP]. Examples: There are only two instances, right and left pectoral girdle skeletons. tmpxe7fu0cj_hp_relaxed.owl pectoral girdle|skeleton of pectoral girdle|cingulum pectorale|scapular girdle|skeletal parts of pectoral girdle AAO:0000422|UMLS:C0427245|XAO:0003063|VSAO:0000156|VHOG:0001156|EHDAA2:0001420|TAO:0000407|MIAA:0000181|ZFA:0000407|FMA:24141|NCIT:C33547|AAO:0000754|MAT:0000181|EFO:0000946 http://upload.wikimedia.org/wikipedia/commons/2/22/Pectoral_girdle_front_diagram.svg uberon owl:Class Skeletal structure immediately behind the head attached to the vertebral column by muscles and supporting the forelimbs.[AAO]|Girdle skeleton consisting of a set of bones linking the axial series to the forelimb/fin skeleton and offering anchoring areas for forelimb/fin and caudal musculature.[VSAO]|Anatomical cluster of paired dermal and endochondral bones that attaches to the dorso-posterior part of the cranium, and support the radials and pectoral fin. It consists of two components: the primary pectoral girdle consisting of the endochondral coracoid, scapula and mesocoracoid bones, and the secondary pectoral girdle consisting of the dermal posttemporal, supracleithrum, cleithrum and poscleithrum(thra) bones.[TAO] The pectoral girdle is clearly of dual origin, composed of dermal as well as endochondral bones. The endochondral component, the scapulocoracoid, evolved by fusion or enlargment of several basal fin elements. (...) The dermal component of the shoulder girdle evolved from dermal bones of the body's surface. (...) Like endochondral bones, these dermal bones were passed along to tetrapods (...).[well established][VHOG] Note that the VSAO and many ontologies use the label 'pectoral girdle' to denote the skeletal region specifically. GO:0019221 biolink:NamedThing cytokine-mediated signaling pathway A series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. tmpxe7fu0cj_hp_relaxed.owl cytokine and chemokine mediated signaling pathway|cytokine mediated signalling pathway biological_process owl:Class GO:0097708 biolink:NamedThing intracellular vesicle Any vesicle that is part of the intracellular region. tmpxe7fu0cj_hp_relaxed.owl pr 2016-03-29T17:39:45Z cellular_component owl:Class GO:0005622 biolink:NamedThing intracellular anatomical structure A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm. tmpxe7fu0cj_hp_relaxed.owl nucleocytoplasm|protoplast|protoplasm|intracellular|internal to cell https://github.com/geneontology/go-ontology/issues/17776 Wikipedia:Intracellular cellular_component owl:Class UBERON:0002402 biolink:NamedThing pleural cavity The fluid-filled cavity that lies between the visceral and parietal pleurae. tmpxe7fu0cj_hp_relaxed.owl cavitas pleuralis|cavitum pleurale|cavitum pleuralae EMAPA:16774|FMA:9740|VHOG:0000581|MESH:A01.911.800.650|Wikipedia:Pleural_cavity|EMAPA:16773|UMLS:C0178802|OpenCyc:Mx4rwCKAppwpEbGdrcN5Y29ycA|GAID:95|MA:0000055|NCIT:C12840|BTO:0004422|EHDAA2:0001475|SCTID:361999006 http://upload.wikimedia.org/wikipedia/commons/a/ab/Gray965.png uberon owl:Class In hagfishes a transverse septum extends upward from the ventral body wall posterior to the heart, partly separating an anterior pericardial cavity from a larger peritoneal cavity. (...) These basic relationships have not been modified by urodeles. The small pericardial cavity remains far forward where it is separated by a transverse septum from the principal coelom, which may now be called a pleuroperitoneal cavity because slender lungs are present. (...) The heart [of other tetrapods] is separated from the lungs (and liver if present) by more or less horizontal partitions that have their origin in the embryo as folds on the serous membrane of the right and left lateral body walls. These grow out to join in the midline of the body. They are called lateral mesocardia (birds) or pleuropericardial membranes. Posteriorly they join the transverse septum to form the adult pericardial membrane, or pericardium. (...) In their partitioning of their coelom, embryonic mammals resemble first early fishes (incomplete partition, posterior to heart, consisting of the transverse septum) and then reptiles (pericardium derived from transverse septum and pleuropericardial membranes). Mammals then separate paired pleural cavities from the peritoneal cavity by a diaphragm. The ventral portion of this organ comes from the transverse septum. The dorsal portion is derived from the dorsal mesentery and from still another pair of outgrowths from the lateral body wall, the pleuroperitoneal membranes.[well established][VHOG] The contraction of the diaphragm creates a negative pressure within the pleural cavity which forces the lungs to expand resulting in passive exhalation and active inhalation. This breathing process can be made forceful through the contraction of the external intercostal muscles which forces the rib cage to expand and add to the negative pressure in the pleural cavity causing the lungs to fill with air. The fluid in the cavity provides lubrication and cushioning the EHDAA2 class of the same is not equivalent. See https://github.com/obophenotype/uberon/issues/86 CHEBI:36357 biolink:NamedThing polyatomic entity Any molecular entity consisting of more than one atom. tmpxe7fu0cj_hp_relaxed.owl polyatomic entities chebi_ontology owl:Class UBERON:0013702 biolink:NamedThing body proper The region of the organism associated with the visceral organs. tmpxe7fu0cj_hp_relaxed.owl whole body|body BTO:0001489|AEO:0000103|EMAPA:36031|FMA:231424 uberon owl:Class Cardinal body part, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the vertebral column and ribcage. Examples: There is only one body proper[FMA:231424]. UBERON:0013701 biolink:NamedThing main body axis A principle subdivision of an organism that includes all structures along the primary axis, typically the anterior-posterior axis, from head to tail, including structures of the body proper where present (for example, ribs), but excluding appendages. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class PATO:0001549 biolink:NamedThing increased sensitivity toward A sensitivity toward an external stimulus which is higher than normal/average. tmpxe7fu0cj_hp_relaxed.owl increased sensitivity|high sensitivity toward quality owl:Class HP:0012697 biolink:NamedThing Small basal ganglia Decreased size of the basal ganglia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022769 peter 2014-03-22T06:01:22Z human_phenotype owl:Class Ncba1cb914e8d4ed69e6e209b2daf4276 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003947 biolink:NamedThing brain ventricle/choroid plexus The brain ventricles or their associated choroid plexuses. tmpxe7fu0cj_hp_relaxed.owl TODO merge into BV|TODO - check relationship between CP and BV. If this is part of then this class should be obsoleted uberon owl:Class CHEBI:32644 biolink:NamedThing methioninate A sulfur-containing amino-acid anion that is the conjugate base of methionine, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl met(-)|methioninate|methionine anion|2-amino-4-(methylsulfanyl)butanoate -1 C5H10NO2S InChI=1S/C5H11NO2S/c1-9-3-2-4(6)5(7)8/h4H,2-3,6H2,1H3,(H,7,8)/p-1 FFEARJCKVFRZRR-UHFFFAOYSA-M 148.20444 148.04377 CSCCC(N)C([O-])=O Gmelin:326565|Reaxys:3937270|Beilstein:3937270 chebi_ontology owl:Class CHEBI:17549 biolink:NamedThing 5-aminolevulinic acid The simplest delta-amino acid in which the hydrogens at the gamma position are replaced by an oxo group. It is metabolised to protoporphyrin IX, a photoactive compound which accumulates in the skin. Used (in the form of the hydrochloride salt)in combination with blue light illumination for the treatment of minimally to moderately thick actinic keratosis of the face or scalp. tmpxe7fu0cj_hp_relaxed.owl aminolevulinic acid|delta-aminolevulinic acid|5-Amino-4-oxovaleric acid|5-Amino-4-oxopentanoate|5-amino-4-oxopentanoic acid|delta-ALA|dALA|5-Aminolevulinate|5-ALA 0 C5H9NO3 InChI=1S/C5H9NO3/c6-3-4(7)1-2-5(8)9/h1-3,6H2,(H,8,9) ZGXJTSGNIOSYLO-UHFFFAOYSA-N 131.12990 131.05824 NCC(=O)CCC(O)=O PMID:23339045|KEGG:D07567|PMID:15756058|PMID:23307195|PMID:23299429|KEGG:C00430|HMDB:HMDB0001149|PMID:23291627|Beilstein:1759139|PMID:18982627|PMID:22700502|PMID:7890117|Drug_Central:166|PMID:22378066|Wikipedia:Aminolevulinic_acid|DrugBank:DB00855|PMID:15996585|Reaxys:1759139|PMID:23242333|CAS:106-60-5|PMID:11303952|PMID:23360321|PMID:19378778|LINCS:LSM-5677|KNApSAcK:C00007378 CHEBI:20547|CHEBI:2034 chebi_ontology owl:Class UBERON:0001748 biolink:NamedThing capsule of parathyroid gland The dense and irregular connective tissue capsule surrounding a parathyroid gland. tmpxe7fu0cj_hp_relaxed.owl parathyroid gland capsule NCIT:C33265|EMAPA:35663|UMLS:C0927176|MA:0002676|FMA:55566 uberon owl:Class UBERON:0002398 biolink:NamedThing manus Distal segment of the fore limb, including carpal region, metacarpal region and digits. tmpxe7fu0cj_hp_relaxed.owl terminal segment of free upper limb|forepaw|fore foot|forelimb autopodium|fore paw|hand region|forelimb autopod|fore-paw|hand|forefeet|forefoot|forefoot of quadruped galen:Hand|UMLS:C0018563|AAO:0010803|MA:0000037|BTO:0004668|VHOG:0000344|FMA:9712|EHDAA2:0000728|GAID:56|NCIT:C32712|MESH:D006225|NLXANAT:20090603|CALOHA:TS-2213|OpenCyc:Mx4rvViGVZwpEbGdrcN5Y29ycA|EMAPA:17428 like all limb segments, this class encompasses both the unformed hand region of the embryo to the fully formed structure complete with skeleton http://upload.wikimedia.org/wikipedia/commons/7/76/LeftHand0.jpg uberon owl:Class manual UBERON:0009537 biolink:NamedThing vascular element of right lung A vascular plexus that is part of a right lung. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001757|EMAPA:17668 uberon owl:Class UBERON:0002167 biolink:NamedThing right lung Lung which consists of the right upper lobe, middle lobe and right lower lobe.[FMA]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:17661|SCTID:361967000|VHOG:0000301|EHDAA2:0001730|NCIT:C33483|FMA:7309|Wikipedia:Right_lung|EHDAA:4969|UMLS:C0225706|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rvVjKy5wpEbGdrcN5Y29ycA|MA:0000426 http://upload.wikimedia.org/wikipedia/commons/3/32/Gray972.png uberon owl:Class Lungs had already developed as paired ventral pockets from the intestine in the ancestor of Osteognathostomata.[well established][VHOG] https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0013774 biolink:NamedThing diaphysis of metatarsal bone A diaphysis that is part of a metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl diaphysis of metatarsal|shaft of metatarsal bone|metatarsal diaphysis|metatarsal bone diaphysis FMA:33826 uberon owl:Class Ne5cb67878b57407e9b55d2a4cf43133f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N13dbbb1657614e3d823065e7a59029e6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000037 biolink:NamedThing hematopoietic stem cell A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119. tmpxe7fu0cj_hp_relaxed.owl colony forming unit hematopoietic|blood forming stem cell|HSC|hemopoietic stem cell FMA:86475|CALOHA:TS-0448|FMA:70337|VHOG:0001485|BTO:0000725 Markers differ between species, and two sets of markers have been described for mice. HSCs are reportedly CD34-positive, CD45-positive, CD48-negative, CD150-positive, CD133-positive, and CD244-negative. cell owl:Class GO:0048103 biolink:NamedThing somatic stem cell division The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. tmpxe7fu0cj_hp_relaxed.owl somatic stem cell renewal biological_process owl:Class HP:0100640 biolink:NamedThing Laryngeal cyst Presence of a cyst (sac-like structure) located in the larynx. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:195867000|UMLS:C0339880 doelkens 2010-12-29T05:48:37Z human_phenotype owl:Class Nffc9b30036aa4425bcade8b63532b4bd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0071887 biolink:NamedThing leukocyte apoptotic process Any apoptotic process in a leukocyte, an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. tmpxe7fu0cj_hp_relaxed.owl leukocyte apoptosis Note that a lymphocyte is a cell of the B cell, T cell, or natural killer cell lineage (CL:0000542). mah 2010-09-14T12:44:09Z biological_process owl:Class HP:0009050 biolink:NamedThing Quadriceps muscle atrophy Muscular atrophy involving the quadriceps muscle. tmpxe7fu0cj_hp_relaxed.owl Wasting of quad muscles UMLS:C4024603 human_phenotype owl:Class N6f0e90780e0a44cfa5f6175344518201 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008203 biolink:NamedThing pelvic cavity The part of the ventral body cavity that is within the pelvis. tmpxe7fu0cj_hp_relaxed.owl cavitas pelvis|space of pelvic compartment EMAPA:37235|MA:0003089|FMA:9738 http://upload.wikimedia.org/wikipedia/commons/e/ee/Scheme_body_cavities-en.svg uberon owl:Class UBERON:0002355 biolink:NamedThing pelvic region of trunk The lower segment of the trunk, inferioposterior to the abdomen proper, in the transition area between the trunk and the lower limbs. tmpxe7fu0cj_hp_relaxed.owl true pelvis|pelvis|pelvic region|pelvis region|lesser pelvis galen:Pelvis|UMLS:C0030797|MA:0000030|OpenCyc:Mx4rvVjiTJwpEbGdrcN5Y29ycA|GAID:87|EMAPA:35931|EFO:0002805|FMA:9578|BTO:0001006|NCIT:C12767|CALOHA:TS-2227|EV:0100012|MESH:A01.673 uberon owl:Class pelvic MA and FMA differ in what they consider to be parts of the pelvis. MA includes ureter, urethra, urinary bladder, reproductive organs UBERON:0005944 biolink:NamedThing axial skeleton plus cranial skeleton Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified]. tmpxe7fu0cj_hp_relaxed.owl skeleton axiale Wikipedia:Axial_skeleton|NCIT:C32172|EMAPA:18043|UMLS:C0222645|MA:0000308|EMAPA:17214|XAO:0004011|SCTID:361725000|VSAO:0000056|AAO:0000963 http://upload.wikimedia.org/wikipedia/commons/8/8b/Axial_skeleton_diagram.svg uberon http://purl.obolibrary.org/obo/uberon/docs/The-axial-skeleton owl:Class Skeletal subdivision of the central body axis including the cranium, vertebrae, notochord, ribs, and sternum.[VSAO] UBERON:0009843 biolink:NamedThing prostate epithelial cord A solid cord of prostate epithelium. tmpxe7fu0cj_hp_relaxed.owl cord of prostate epithelium|epithelial cord of prostate Complexity is conferred on the prostate during a postnatal development phase known as branching morphogenesis. Solid cords of prostate epithelium formed in utero elongate postnatally and their tips are bifurcated into primary, secondary, and tertiary branches in a pattern that is unique for each prostate lobe. Branching morphogenesis proceeds differentially for each of the three mouse prostate lobes (ventral, dorsolateral, and anterior) and is completed by about postnatal day 20 in mice, providing each lobe with unique glandular architecture [5]. It is important to note that the developing human prostate undergoes a similar series of morphogenetic events especially during prostatic bud formation, but gives rise to a mature glandular prostate that is unique from the rodent and features peripheral, central, and transitional zones[PMID:18977204] uberon owl:Class HP:0200021 biolink:NamedThing Down-sloping shoulders Low set, steeply sloping shoulders. tmpxe7fu0cj_hp_relaxed.owl Down-sloping shoulders|Rounded, sloping shoulders|Rounded shoulders|Sloping shoulders UMLS:C1856872 sebastiankohler 2010-06-16T02:15:20Z HP:0001556|HP:0006663 human_phenotype owl:Class N723e71a10acc4813b8cb2919de935b84 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007099 biolink:NamedThing hyoid neural crest Cranial neural crest that migrates into the hyoid arch. tmpxe7fu0cj_hp_relaxed.owl hyoid crest ZFA:0007065|TAO:0007065|XAO:0000025 uberon owl:Class UBERON:0000956 biolink:NamedThing cerebral cortex The thin layer of gray matter on the surface of the cerebral hemisphere that develops from the telencephalon. It consists of the neocortex (6 layered cortex or isocortex), the hippocampal formation and the olfactory cortex. tmpxe7fu0cj_hp_relaxed.owl cortex cerebralis|pallium of the brain|cortex cerebri|brain cortex|cortical plate (CTXpl)|cortical plate (areas)|cortex of cerebral hemisphere BAMS:Cerebral_cortex|EMAPA:17544|BAMS:Cx|MA:0000185|BIRNLEX:1494|Wikipedia:Cerebral_cortex|UMLS:C0007776|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=39|FMA:61830|HBA:4008|GAID:629|MAT:0000108|VHOG:0000722|MBA:688|SCTID:362880003|BM:Tel-Cx|BAMS:CTX|MESH:A08.186.211.730.885.213|PBA:128011354|EFO:0000328|CALOHA:TS-0091|EHDAA2:0000234|BAMS:C|EV:0100166|DHBA:10159|NCIT:C12443|EHDAA:5464|BTO:0000233|MIAA:0000108 We follow NIFSTD in defining cerebral cortex and including both neocortex and hippocampal formation (DG+hippocampus). http://upload.wikimedia.org/wikipedia/commons/9/9a/Brainmaps-macaque-hippocampus.jpg|http://upload.wikimedia.org/wikipedia/commons/7/7b/Cerebral_Cortex_location.jpg uberon owl:Class The cerebral cortex is a structure within the brain that plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It constitutes the outermost layer of the cerebrum. In preserved brains, it has a grey color, hence the name 'grey matter'. Grey matter is formed by neurons and their unmyelinated fibers, whereas the white matter below the grey matter of the cortex is formed predominantly by myelinated axons interconnecting different regions of the central nervous system. The human cerebral cortex is 2-4 mm (0.08-0.16 inches) thick. The surface of the cerebral cortex is folded in large mammals, such that more than two-thirds of the cortical surface is buried in the grooves, called 'sulci. ' The phylogenetically most recent part of the cerebral cortex, the neocortex, also called isocortex, is differentiated into six horizontal layers; the more ancient part of the cerebral cortex, the hippocampus (also called archicortex), has at most three cellular layers, and is divided into subfields. Relative variations in thickness or cell type (among other parameters) allow us to distinguish between different neocortical architectonic fields. The geometry of at least some of these fields seems to be related to the anatomy of the cortical folds, and, for example, layers in the upper part of the cortical ridges seem to be more clearly differentiated than in its deeper parts. [WP,unvetted][Wikipedia:Cerebral_cortex]. Migration of neurons from the basal or striatal portions of the anterior part of the neural tube occurs to varying degrees in different vertebrate classes, but a true cerebral cortex is generally acknowledged to have made its first appearance in reptiles. The definition can be unambiguous, since 'cortex' simply implies the existence of a surface neuronal layer with an overlying 'zonal lamina' or 'molecular' layer containing dendrites and axons, which is separated from the underlying basal 'matrix' by white matter. Although reptilian cerebral cortex does indeed fulfill these conditions in certain locations, the separation from striatal structures is often indistinct, so that it may even be argued that some primitive dipnoans possess a pallium or cortex. Nevertheless, an extensive laminated layer separated by underlying white matter is well represented only in reptiles and mammals.[well established][VHOG] hagfishes have independently evolved a highly laminated cerebral cortex, comparable in many ways to the cerebral cortex of mammals [http://icb.oxfordjournals.org/content/42/4/743] N3ae91989fcfd4fde96dde3d893e5413c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007352 biolink:NamedThing Cerebellar calcifications tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851431 owl:Class N4aeb7749e857430ebe72a0c704cb8f0a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0043010 biolink:NamedThing camera-type eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. tmpxe7fu0cj_hp_relaxed.owl GO:0001747|GO:0031075 biological_process owl:Class UBERON:0005399 biolink:NamedThing male reproductive gland A sex gland that is part of a male reproductive system. tmpxe7fu0cj_hp_relaxed.owl accessory sex gland MA:0000399|EMAPA:19285|BTO:0000080 uberon owl:Class N115098f2326947f49ab2ebd18c288d01 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfa623ef143eb4c26aca6c39465627d49 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0070997 biolink:NamedThing neuron death The process of cell death in a neuron. tmpxe7fu0cj_hp_relaxed.owl neuron cell death|neuronal cell death This term should not be used for direct annotation. The only exception should be when experimental data (e.g., staining with trypan blue or propidium iodide or use of neuron-specific markers) show that neuron death has occurred, but fail to provide details on death modality (accidental versus programmed). When information is provided on the neuron death mechanism, annotations should be made to the appropriate descendant of 'cell death' (such as, but not limited to, GO:0097300 'programmed necrotic cell death' or GO:0006915 'apoptotic process'), and the cell type captured as an annotation extension; or the term GO:0051402 'neuron apoptotic process' may be considered, if appropriate. mah 2009-11-03T02:37:17Z biological_process owl:Class UBERON:0000178 biolink:NamedThing blood A fluid that is composed of blood plasma and erythrocytes. tmpxe7fu0cj_hp_relaxed.owl vertebrate blood|whole blood|portion of blood MIAA:0000315|BTO:0000089|ZFA:0000007|galen:Blood|EFO:0000296|EHDAA:418|TAO:0000007|ENVO:02000027|CALOHA:TS-0079|EV:0100047|XAO:0000124|EHDAA2:0000176|FMA:9670|VHOG:0000224|Wikipedia:Blood|UMLS:C0005767|MESH:D001769|OpenCyc:Mx4rvVjI8JwpEbGdrcN5Y29ycA|GAID:965|MA:0000059|NCIT:C12434|EMAPA:16332|AAO:0000046 This class excludes blood analogues, such as the insect analog of blood. See UBERON:0000179 haemolymphatic fluid. uberon owl:Class Highly specialized circulating tissue consisting of several types of cells suspended in a fluid medium known as plasma.[AAO]|A complex mixture of cells suspended in a liquid matrix that delivers nutrients to cells and removes wastes. (Source: BioGlossary, www.Biology-Text.com)[TAO] relationship loss: subclass specialized connective tissue (AAO:0000571)[AAO] Recent findings strongly suggest that the molecular pathways involved in the development and function of blood cells are highly conserved among vertebrates and various invertebrates phyla. (...) There is now good reason to believe that, in vertebrates and invertebrates alike, blood cell lineages diverge from a common type of progenitor cell, the hemocytoblast.[well established][VHOG] UBERON:0002046 biolink:NamedThing thyroid gland A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]. tmpxe7fu0cj_hp_relaxed.owl thyroid|glandula thyroidea UMLS:C0040132|EMAPA:17068|MA:0000129|OpenCyc:Mx4rvVjLT5wpEbGdrcN5Y29ycA|MIAA:0000081|FMA:9603|EV:0100133|galen:ThyroidGland|BTO:0001379|MAT:0000081|VHOG:0000418|GAID:465|EHDAA:2975|EFO:0000861|NCIT:C12400|MESH:D013961|XAO:0000162|CALOHA:TS-1047|AAO:0010544|EHDAA2:0002028|EHDAA:2148 http://upload.wikimedia.org/wikipedia/commons/c/c6/Illu_endocrine_system.jpg|http://upload.wikimedia.org/wikipedia/commons/a/a3/Illu_thyroid_parathyroid.jpg uberon owl:Class Either of paired structures located in the throat which develop from the ventral wall of the pharynx and excretes hormones involved in the morphological and functional changes during metamorphosis as well as influencing other tissues.[AAO] (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (2) a groove in the pharyngeal floor known as the endostyle, or a thyroid gland derived from part of the endostyle (...).[well established][VHOG] In larval lampreys, the thyroid originates as an exocrine gland, secreting its hormones into the gut, and associated with the larva's filter-feeding apparatus. In the adult lamprey, the gland separates from the gut, and becomes endocrine, but this path of development may reflect the evolutionary origin of the thyroid. For instance, the closest living relatives of vertebrates, the tunicates and Amphioxus, have a structure very similar to that of larval lampreys, and this also secretes iodine-containing compounds (albeit not thyroxine)|In tetrapods, the thyroid is always found somewhere in the neck region. In most tetrapod species, there are two paired thyroid glands - that is, the right and left lobes are not joined together. However, there is only ever a single thyroid gland in most mammals, and the shape found in humans is common to many other species|In fish, it is usually located below the gills and is not always divided into distinct lobes. However, in some teleosts, patches of thyroid tissue are found elsewhere in the body, associated with the kidneys, spleen, heart, or eyes UBERON:0005061 biolink:NamedThing neural groove The median dorsal longitudinal groove formed in the embryo by the neural plate after the appearance of the neural folds. tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1363|UMLS:C0814992|NCIT:C34224|XAO:0000248|SCTID:361463007|AAO:0011071|FMA:295624|EMAPA:35594|Wikipedia:Neural_groove uberon owl:Class The neural groove is a shallow median groove between the neural folds of an embryo. The neural folds are two longitudinal ridges that are caused by a folding up of the ectoderm in front of the primitive streak of the developing embryo. The groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or canal, the ectodermal wall of which forms the rudiment of the nervous system. After the coalescence of the neural folds over the anterior end of the primitive streak, the blastopore no longer opens on the surface but into the closed canal of the neural tube, and thus a transitory communication, the neurenteric canal, is established between the neural tube and the primitive digestive tube. The coalescence of the neural folds occurs first in the region of the hind-brain, and from there extends forward and backward; toward the end of the third week the front opening (anterior neuropore) of the tube finally closes at the anterior end of the future brain, and forms a recess which is in contact, for a time, with the overlying ectoderm; the hinder part of the neural groove presents for a time a rhomboidal shape, and to this expanded portion the term sinus rhomboidalis has been applied. Before the neural groove is closed a ridge of ectodermal cells appears along the prominent margin of each neural fold; this is termed the neural crest or ganglion ridge, and from it the spinal and cranial nerve ganglia and the ganglia of the sympathetic nervous system are developed. By the upward growth of the mesoderm the neural tube is ultimately separated from the overlying ectoderm. The cephalic end of the neural groove exhibits several dilatations, which, when the tube is closed, assume the form of three vesicles; these constitute the three primary cerebral vesicles, and correspond respectively to the future fore-brain (prosencephalon), mid-brain (mesencephalon), and hind-brain (rhombencephalon). The walls of the vesicles are developed into the nervous tissue and neuroglia of the brain, and their cavities are modified to form its ventricles. The remainder of the tube forms the medulla spinalis or spinal cord; from its ectodermal wall the nervous and neuroglial elements of the medulla spinalis are developed while the cavity persists as the central canal[Wikipedia:Neural_groove]. UBERON:0007391 biolink:NamedThing pelvic appendage cartilage tissue A cartilage tissue that is part of a pelvic appendage. tmpxe7fu0cj_hp_relaxed.owl pelvic fin cartilage TAO:0001459|ZFA:0001459 uberon owl:Class Cartilage which is part of the pelvic fin.[TAO] UBERON:0000165 biolink:NamedThing mouth The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these occur elsewhere (e.g. pharyngeal jaws) or protrude from the mouth (tusks). tmpxe7fu0cj_hp_relaxed.owl stoma|adult mouth|cavital oralis|oral region|oral vestibule|vestibulum oris|vestibule of mouth|trophic apparatus|regio oralis|mouth cavity|rima oris|cavum oris|cavitas oris|stomatodaeum ZFA:0000590|galen:Mouth|TAO:0000590|EMAPA:16262|MIAA:0000038|BTO:0001090|MAT:0000038|VHOG:0000280|GAID:75|CALOHA:TS-1315|FMA:49184|SCTID:21082005|http://purl.obolibrary.org/obo/uberon/images/lamprey_sucker_rosava_3238889218.jpg|EHDAA:542|MA:0000341|Wikipedia:Mouth|AAO:0010355|OpenCyc:Mx4rvVidh5wpEbGdrcN5Y29ycA|EHDAA2:0001326|MA:0002474|TADS:0000040|VHOG:0000812|FBbt:00003126|TGMA:0000131|MESH:D009055|EFO:0000825|ZFA:0000547|XAO:0003029|BTO:0004698|TAO:0000547 http://upload.wikimedia.org/wikipedia/commons/0/06/Mouth_illustration-Otis_Archives.jpg uberon https://github.com/obophenotype/uberon/issues/661 owl:Class Cavity in which food is initially ingested and generally contains teeth, tongue and glands.[AAO] Molecular and developmental cell lineage data suggest that the acoel mouth opening is homologous to the mouth of protostomes and deuterostomes and that the last common ancestor of the Bilateria (the 'urbilaterian') had only this single digestive opening.[well established][VHOG] oral some AOs place this as developing from the stomodeum but we weaken this to developmental contribution, as the mouth includes non-ectodermal derivatives in FMA, the tongue, palate etc are part of the mouth which is itself a subdivision of the face. ZFA includes a separate class 'oral region' which is part of the mouth, but excludes tongue and lips HP:0030969 biolink:NamedThing Abnormal pulmonary vein physiology An abnormality of the function of the pulmonary veins. tmpxe7fu0cj_hp_relaxed.owl 2017-04-18 13:38:42+00:00 robinp owl:Class N7af12d2d92c94e18abd228859ef7777d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd4a2599bf26341ed80a1945088667ab9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001469 biolink:NamedThing sternoclavicular joint The sternoclavicular articulation is a double arthrodial joint composed of two portions separated by an articular disc. The parts entering into its formation are the sternal end of the clavicle, the upper and lateral part of the manubrium sterni, and the cartilage of the first rib, visible from the outside as the suprasternal notch. The articular surface of the clavicle is much larger than that of the sternum, and is invested with a layer of cartilage, which is considerably thicker than that on the latter bone. The ligaments of this joint are: Articular capsule Anterior sternoclavicular ligament Posterior sternoclavicular ligament Interclavicular ligament Costoclavicular ligament Articular disk [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl sterno clavicular joint|sternoclavicular articulation|articulatio sternoclavicularis|sternoclavicular OpenCyc:Mx4rv_eLJZwpEbGdrcN5Y29ycA|FMA:25883|OpenCyc:Mx4rwI-ZZpwpEbGdrcN5Y29ycA|MA:0001507|GAID:270|NCIT:C33615|UMLS:C0038291|MESH:D013247|EMAPA:19203 http://upload.wikimedia.org/wikipedia/commons/3/3f/Gray325.png uberon owl:Class GO:0044782 biolink:NamedThing cilium organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. tmpxe7fu0cj_hp_relaxed.owl microtubule-based flagellum organization Note that we deem cilium and microtubule-based flagellum to be equivalent. jl 2013-03-27T15:09:58Z biological_process owl:Class UBERON:0002198 biolink:NamedThing neurohypophysis The posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormon. tmpxe7fu0cj_hp_relaxed.owl lobus nervosus|posterior lobe of pituitary|infundibular process|lobus nervosus neurohypophysis|neurohypophysis|pituitary gland neural lobe|neural lobe of pituitary gland|lobus posterior hypophysis|neural lobe of pituitary|lobus posterior|neural lobe|NHP|posterior pituitary gland|posterior lobe of pituitary gland|posterior pituitary|pituitary gland, posterior lobe|neuro hypophysis|lobus posterior (glandula pituitaria)|pituitary gland, neural lobe|posterior lobe of hypophysis UMLS:C0032009|BAMS:PPit|MA:0000178|BTO:0000937|ZFA:0001271|BAMS:NL|AAO:0010537|DMBA:15691|BIRNLEX:1586|BAMS:NHY|CALOHA:TS-0815|VHOG:0000142|MESH:A06.407.747.734|EHDAA2:0001271|BAMS:NHP|EHDAA:7536|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=401|NCIT:C12773|BM:NY|TAO:0001271|EMAPA:17519|UMLS:C1280368|FMA:74628 http://upload.wikimedia.org/wikipedia/commons/b/b9/Pituitary_gland_representation.PNG request magnocellular cell from CL. Request oxytocin secretion from GO. Notes: 'The hypophysis or pituitary gland is derived, in part from an ectodermal outpocketing of the stomodeum (Rathke's Pouch) and in part from the floor of the diencephalon' uberon owl:Class The infundibular part of the pituitary gland consisting of two regions.[AAO] It (the hypophysis) develops embryonically in all vertebrates from two ectodermal evaginations that meet and unite. An infundibulum grows ventrally from the diencephalon of the brain, and Rathke's pouch extends dorsally from the roof of the developing mouth, or stomodaeum. The infundibulum remains connected to the floor of the diencephalon, which becomes the hypothalamus, and gives rise to the part of the gland known as the neurohypophysis. (...) Rathke's pouch loses its connection with the stomodaeum in most adult vertebrates and gives rise to the rest of the gland, the adenohypophysis. (...) A well-developed hypophyseal system with functional connections to the hypothalamus is unique to craniates.[well established][VHOG] todo - resolve EMAPA and EHDAA2 models, include future neurohypophysis (TS15-19)? relationship to infundibular recess of 3rd ventricle (TS15-19) UBERON:0002346 biolink:NamedThing neurectoderm Embryonic ectoderm that gives rise to nervous tissue. tmpxe7fu0cj_hp_relaxed.owl neuaral ectoderm|epithelium tubi neuralis; neuroectoderma|ventral neurogenic region|neural ectoderm|presumptive central nervous system|neuroectoderm FMA:87657|EHDAA2:0001248|MIAA:0000176|AAO:0011074|CALOHA:TS-1212|ZFA:0001120|TAO:0001120|FBbt:00001061|MAT:0000176|EMAPA:16073|Wikipedia:Neuroectoderm|BILA:0000039|XAO:0000042|NCIT:C34228|EHDAA:255|VHOG:0000150|EHDAA:1498|EV:0100004|UMLS:C1518271 uberon owl:Class (...) the ability of ectoderm to produce neuronal cells is a general metazoan feature.[well established][VHOG] neurectodermal we prefer neurectoderm to neural ectoderm since placodal ectoderm is not classified here Nbf840f102f304e0ebd593f7ef5f079c3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N455c89dca9ff46748b822e3d164937fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005356 biolink:NamedThing Rathke's pouch A pouch of ectoderm that grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland[MP]. In embryogenesis, Rathke's pouch is a depression in the roof of the developing mouth in front of the buccopharyngeal membrane. It gives rise to the anterior pituitary (adenohypophysis), a part of the endocrine system[WP]. tmpxe7fu0cj_hp_relaxed.owl Rathke's cleft|Rathkes pouch epithelium|craniobuccal pouch|nasohypophyseal pouch|craniopharyngeal pouch|Rathke's pocket|hypophyseal pouch|adenohypophysial pouch|pouch of Rathke|hypophyseal diverticulum|Rathke pouch|Rathke's cyst|pituitary diverticulum EMAPA:16725|EHDAA2:0001588|FMA:302929|UMLS:C0229548|UMLS:C1709841|AAO:0011094|NCIT:C54098|NCIT:C34281|VHOG:0000674|XAO:0000430 uberon owl:Class A depression that forms in the roof of the mouth of an embryo, anterior to the buccopharyngeal membrane. The walls of the diverticulum develop into the anterior lobe of the pituitary gland. [TFD][VHOG] It (the hypophysis) develops embryonically in all vertebrates from two ectodermal evaginations that meet and unite. An infundibulum grows ventrally from the diencephalon of the brain, and Rathke's pouch extends dorsally from the roof of the developing mouth, or stomodaeum. The infundibulum remains connected to the floor of the diencephalon, which becomes the hypothalamus, and gives rise to the part of the gland known as the neurohypophysis. (...) Rathke's pouch loses its connection with the stomodaeum in most adult vertebrates and gives rise to the rest of the gland, the adenohypophysis. (...) A well-developed hypophyseal system with functional connections to the hypothalamus is unique to craniates.[well established][VHOG] median funnel­-shaped invagination of ectoderm, the nasohypophyseal pouch. It will contribute to the formation of the pituitary gland of the adult lamprey and is homologous to Rathke's pouch and perhaps to Hatschek 's pit (amphioxus). EHDAA2 distinguishes between the adenohypophyseal pouch and it's precursor Rathke's pouch epithelium. UBERON:0001968 biolink:NamedThing semen Organism substance that is composed of sperm cells suspended in seminal fluid. tmpxe7fu0cj_hp_relaxed.owl sperm|ejaculate UMLS:C1518159|MESH:D012661|EMAPA:31488|BTO:0001230|OpenCyc:Mx4rvgC-zpwpEbGdrcN5Y29ycA|UMLS:C2756969|NCIT:C13277|CALOHA:TS-0917|NCIT:C13713|MA:0002522|GAID:1169|FMA:62966 http://upload.wikimedia.org/wikipedia/commons/4/40/Human_semen_in_petri_dish2.jpg uberon owl:Class seminal Note that in this ontology, semen is defined as the sum of sperm and seminal fluid, where seminal fluid is defined in taxonomically generic way (see comments for UBERON:0006530). CL:0000019 biolink:NamedThing sperm A mature male germ cell that develops from a spermatid. tmpxe7fu0cj_hp_relaxed.owl spermatozoon|spermatozoid|sperm cell BTO:0001277|FMA:67338|CALOHA:TS-0949|FBbt:00004954|WBbt:0006798|BTO:0002046 cell owl:Class HP:0006591 biolink:NamedThing Absent glenoid fossa Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. tmpxe7fu0cj_hp_relaxed.owl Aplasia of the glenoid fossa UMLS:C4021589 human_phenotype owl:Class N92e60390015144f092fb04b15f466707 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001492 biolink:NamedThing radial nerve A nerve that supplies the upper limb, including the triceps brachii muscle of the arm, as well as all 12 muscles in the posterior osteofascial compartment of the forearm, as well as the associated joints and overlying skin. tmpxe7fu0cj_hp_relaxed.owl nervus radialis EMAPA:17278|NCIT:C52812|MA:0001171|VHOG:0000896|EHDAA:5650|GAID:845|EHDAA2:0001584|OpenCyc:Mx4rvfk7E5wpEbGdrcN5Y29ycA|FMA:37069|MESH:D011826|UMLS:C0034518 http://upload.wikimedia.org/wikipedia/commons/e/e2/Gray818.png uberon owl:Class GO:1905821 biolink:NamedThing positive regulation of chromosome condensation Any process that activates or increases the frequency, rate or extent of chromosome condensation. tmpxe7fu0cj_hp_relaxed.owl upregulation of eukaryotic chromosome condensation|up regulation of eukaryotic chromosome condensation|up-regulation of chromosome condensation|activation of chromosome condensation|positive regulation of eukaryotic chromosome condensation|activation of eukaryotic chromosome condensation|activation of nuclear chromosome condensation|up regulation of chromosome condensation|up regulation of nuclear chromosome condensation|up-regulation of nuclear chromosome condensation|upregulation of nuclear chromosome condensation|positive regulation of nuclear chromosome condensation|up-regulation of eukaryotic chromosome condensation|upregulation of chromosome condensation bhm 2017-01-13T14:13:44Z biological_process owl:Class GO:0007492 biolink:NamedThing endoderm development The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001791 biolink:NamedThing inner nuclear layer of retina Cytoarchitectural layer of retina containing closely packed cell bodies, the majority of which are bipolar cells (adapted from Wikipedia). tmpxe7fu0cj_hp_relaxed.owl stratum nucleare internum|INL|intermediate cell layer|stratum nucleare internum retinae|inner nuclear layer|neural retina inner nuclear layer|layer of inner granules|retina inner nuclear layer|retina, inner nuclear layer|retinal inner nuclear layer BAMS:Rinl|ZFA:0000119|MA:0001311|BTO:0003176|NLX:93816|TAO:0000119|UMLS:C0229211|NLXANAT:1005031|XAO:0003221|EMAPA:19155|NCIT:C32808|FMA:58686|VHOG:0001167 AO notes NLXANAT:1005031 appears to be retired uberon owl:Class The layer of the retina composed of the cell bodies of bipolar cells, horizontal cells, and some of the cell bodies of amacrine cells[BTO:0003176]. (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The outer layer of the optic cup becomes the pigment layer of the retina, whereas the inner layer differentiates into the photoreceptive cells and neuronal layers of the retina.[well established][VHOG] HP:0011128 biolink:NamedThing Acute esophageal necrosis A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023524 peter 2011-06-18T08:48:53Z human_phenotype owl:Class N33517a954f944525aa0429f28d09c2c0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001571 biolink:NamedThing genioglossus muscle Either of a pair of lingual muscles with origin in the mandible, with insertion to the lingual fascia below the mucous membrane and epiglottis, with nerve supply from the hypoglossal nerve, and whose action depresses and protrudes the tongue. tmpxe7fu0cj_hp_relaxed.owl genioglossus|musculus genioglossus|m. genioglossus AAO:0010660|Wikipedia:Genioglossus_muscle|SCTID:244784007|FMA:46690|UMLS:C0224194|EMAPA:18276|NCIT:C52928|EHDAA:9150|EHDAA2:0000704|VHOG:0000847|MA:0002307 http://upload.wikimedia.org/wikipedia/commons/7/7e/Genioglossus.png uberon owl:Class Either of a pair of lingual muscles with origin in the mandible, with insertion to the lingual fascia below the mucous membrane and epiglottis, with nerve supply from the hypoglossal nerve, and whose action depresses and protrudes the tongue. [TFD][VHOG]|Makes up bulk of tongue in frogs and salamanders; makes up entire tongue in caecilians.[AAO]|see Intrinsic Tongue.[FEED] relationship loss: subclass hyobranchial muscles (AAO:0000224)[AAO] The lamprey head contains another group of muscles, the epi- and hypo-branchial muscles (EBM and HBM), derivatives of anterior trunk myotomes. (...) The origin and the migration pattern of HBM precursors are very similar to that of the gnathostome MPP, especially to that of the tongue muscle precursors. Other evidence of homology of lamprey HBM to the gnathostome tongue muscle is that HBM is innervated by the nerve termed the hypoglossal nerve based on its morphological position associated with the head/trunk interface. (...) The HBM-specific expression of the LampPax3/7 gene is consistent with the homology of this muscle to the gnathostome tongue muscle, or to the hypobranchial series as a whole (including the infrahyoid and possibly the diaphragm in mammals).[well established][VHOG] Makes up bulk of tongue in frogs and salamanders; makes up entire tongue in caecilians. UBERON:0010070 biolink:NamedThing intermediate layer of tympanic membrane The intermediate fibrous layer of the tympanic membrane. tmpxe7fu0cj_hp_relaxed.owl intermediate fibrous layer of tympanic membrane|fibrous layer of tympanic membrane|connective tissue layer of tympanic membrane|tympanic endothelium|fibrous stratum of tympanic membrane MA:0001223|EMAPA:19063|FMA:56830 uberon owl:Class check MA HP:0004034 biolink:NamedThing Irregular olecranon tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025428 human_phenotype owl:Class N2e717d67068e42118eecf33549d5f8f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003160 biolink:NamedThing endocardium morphogenesis The process in which the anatomical structure of the endocardium is generated and organized. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-01T01:37:26Z biological_process owl:Class GO:0003157 biolink:NamedThing endocardium development The process whose specific outcome is the progression of the endocardium over time, from its formation to the mature structure. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-01T12:42:27Z biological_process owl:Class CHEBI:35418 biolink:NamedThing N-acetylneuraminate A ketoaldonate that is the conjugate base of N-acetylneuraminic acid, obtained by deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl sialate|N-acetylneuraminate|5-acetamido-3,5-dideoxy-D-galacto-non-2-ulopyranosonate -1 C11H18NO9 InChI=1S/C11H19NO9/c1-4(14)12-7-5(15)2-11(20,10(18)19)21-9(7)8(17)6(16)3-13/h5-9,13,15-17,20H,2-3H2,1H3,(H,12,14)(H,18,19)/p-1/t5-,6+,7+,8+,9+,11?/m0/s1 SQVRNKJHWKZAKO-LUWBGTNYSA-M 308.26196 308.09870 [H][C@]1(OC(O)(C[C@H](O)[C@H]1NC(C)=O)C([O-])=O)[C@H](O)[C@H](O)CO MetaCyc:N-ACETYLNEURAMINATE|Reaxys:9227329 CHEBI:21617|CHEBI:33987|CHEBI:12471|CHEBI:12579 chebi_ontology owl:Class Nbc5d361820444d48b02870dce05c808d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb88368a4aeb648da9a854f4d1e9e1d36 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N642d85416eb846a1affd5c1c15f1d79d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:18258 biolink:NamedThing 3,3',5-triiodo-L-thyronine An iodothyronine compound having iodo substituents at the 3-, 3'- and 5-positions. Although some is produced in the thyroid, most of the 3,3',5-triiodo-L-thyronine in the body is generated by mono-deiodination of L-thyroxine in the peripheral tissues. Its metabolic activity is about 3 to 5 times that of L-thyroxine. The sodium salt is used in the treatment of hypothyroidism. tmpxe7fu0cj_hp_relaxed.owl liothyronine|Tresitope|L-T3|3,3',5-triiodo-L-thyronine|3,5,3'-Triiodothyronine|3,5,3'TRIIODOTHYRONINE|3,5,3'-Triiodo-L-thyronine|Tertroxin|4-(4-hydroxy-3-iodophenoxy)-3,5-diiodo-L-phenylalanine|liotironina|Liothyronine|Triiodothyronine|L-3,5,3'-Triiodothyronine|liothyroninum|T3|O-(4-hydroxy-3-iodophenyl)-3,5-diiodo-L-tyrosine 0 C15H12I3NO4 InChI=1S/C15H12I3NO4/c16-9-6-8(1-2-13(9)20)23-14-10(17)3-7(4-11(14)18)5-12(19)15(21)22/h1-4,6,12,20H,5,19H2,(H,21,22)/t12-/m0/s1 AUYYCJSJGJYCDS-LBPRGKRZSA-N 650.97350 650.79004 N[C@@H](Cc1cc(I)c(Oc2ccc(O)c(I)c2)c(I)c1)C(O)=O PMID:11738632|Wikipedia:Triiodothyronine|Reaxys:2710227|Beilstein:2710227|KEGG:C02465|HMDB:HMDB0000265|MetaCyc:CPD-10813|DrugBank:DB00279|PMID:15206581|PMID:19339791|PDBeChem:T3|Drug_Central:1585|CAS:6893-02-3|LINCS:LSM-3991|KEGG:D08128 CHEBI:19894|CHEBI:9722|CHEBI:13059|CHEBI:11702|CHEBI:11701|CHEBI:45840 chebi_ontology owl:Class UBERON:0007759 biolink:NamedThing metatarsophalangeal joint of pedal digit 4 A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 4. tmpxe7fu0cj_hp_relaxed.owl metatarsophalangeal joint of fourth digit of foot|metatarsophalangeal joint of pedal digit IV|metatarsophalangeal joint of fourth toe EMAPA:26472|FMA:35237 uberon owl:Class the name of the structure in EMAPA is incorrect GO:0045601 biolink:NamedThing regulation of endothelial cell differentiation Any process that modulates the frequency, rate or extent of endothelial cell differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0045446 biolink:NamedThing endothelial cell differentiation The process in which a mesodermal, bone marrow or neural crest cell acquires specialized features of an endothelial cell, a thin flattened cell. A layer of such cells lines the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001509 biolink:NamedThing triceps brachii The triceps brachii muscle (Latin for 'three-headed' muscle of the arm, it is called a three headed muscle because there are three bundles of muscle, each of different origin, joining together at the elbow) is the large muscle on the back of the human upper limb. It is the muscle principally responsible for extension of the elbow joint (i.e. straightening of the arm). Though a similarly-named muscle, the triceps surae, is found on the lower leg, the triceps brachii is commonly called simply the 'triceps'. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl musculus triceps brachii|triceps|triceps muscle|triceps brachii muscle EHDAA:8287|NCIT:C90604|UMLS:C0559502|FMA:37688|VHOG:0000851|NCIT:C33812|MA:0002399|EMAPA:19111|EHDAA2:0002080 Dorsal group derivative that acts on the forearm[Kardong] Triceps:brachii.png uberon owl:Class UBERON:0005788 biolink:NamedThing lamina rara interna Layer of the glomerular basement membrane adjacent to the glomerular capillary. tmpxe7fu0cj_hp_relaxed.owl lamina interna of glomerular basement membrane|internal layer of glomerular basement membrane UMLS:C1517719|TAO:0005287|FMA:74277|ZFA:0005287|NCIT:C32920 uberon owl:Class UBERON:0009142 biolink:NamedThing entire embryonic mesenchyme Sum total of mesenchyme in the embryo. tmpxe7fu0cj_hp_relaxed.owl EHDAA:177|EMAPA:16097|EHDAA2:0001113 consider adding new class (EMAPA:16097) for mesenchyme of embryo (some mesenchyme is extraembryonic - e.g. amnion mesoderm) UBERON:0003313 uberon owl:Class HP:0001249 biolink:NamedThing Intellectual disability Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. tmpxe7fu0cj_hp_relaxed.owl Mental-retardation|Mental retardation|Low intelligence|Nonprogressive mental retardation|Mental retardation, nonspecific|Nonprogressive intellectual disability|Poor school performance|Dull intelligence|Intellectual disability|Mental deficiency UMLS:C3714756|SNOMEDCT_US:91138005|UMLS:C0423903|SNOMEDCT_US:228156007|UMLS:C4020876|MSH:D008607|UMLS:C0025362|SNOMEDCT_US:247578003|UMLS:C1843367|UMLS:C0917816 This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). HP:0002122|HP:0002482|HP:0006833|HP:0000730|HP:0002316|HP:0007180|HP:0007154|HP:0002382|HP:0002386|HP:0006877|HP:0003767|HP:0002458|HP:0002192|HP:0001267|HP:0001286|HP:0002543|HP:0002402|HP:0002499|HP:0007176 human_phenotype owl:Class N701efe2c9b554de08da22ab776f0cf86 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0034903 biolink:NamedThing left atrium endocardium Endocardium that is part of the left atrium. tmpxe7fu0cj_hp_relaxed.owl endocardium of left atrium|left atrial endocardium|left atrium endocardial tissue SCTID:190064008|VHOG:0001226|FMA:7286 uberon owl:Class Endocardium of atrium which is continuous with the tunica intima of the trunk of pulmonary vein. GO:0060441 biolink:NamedThing epithelial tube branching involved in lung morphogenesis The process in which a highly ordered sequence of patterning events generates the branched epithelial tubes of the lung, consisting of reiterated combinations of bud outgrowth, elongation, and dichotomous subdivision of terminal units. tmpxe7fu0cj_hp_relaxed.owl lung branching morphogenesis biological_process owl:Class GO:0050802 biolink:NamedThing circadian sleep/wake cycle, sleep The part of the circadian sleep/wake cycle where the organism is asleep. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0004810 biolink:NamedThing nephron tubule epithelium The cellular avascular layer of the renal tubule luminar surfaces. tmpxe7fu0cj_hp_relaxed.owl kidney tubule epithelium UMLS:C1709902|NCIT:C49276|MA:0001681|BTO:0005239|EMAPA:36524 See https://github.com/obophenotype/uberon/issues/1305 uberon owl:Class GO:0006094 biolink:NamedThing gluconeogenesis The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. tmpxe7fu0cj_hp_relaxed.owl glucose biosynthetic process|glucose biosynthesis Wikipedia:Gluconeogenesis|MetaCyc:GLUCONEO-PWY biological_process owl:Class PATO:0000569 biolink:NamedThing decreased height A height which is relatively low. tmpxe7fu0cj_hp_relaxed.owl short quality owl:Class UBERON:0034994 biolink:NamedThing hindbrain cortical intermediate zone tmpxe7fu0cj_hp_relaxed.owl hindbrain mantle layer EMAPA:32917|DHBA:12682 uberon owl:Class UBERON:0002028 biolink:NamedThing hindbrain The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]. tmpxe7fu0cj_hp_relaxed.owl rhombencephalon DMBA:16808|AAO:0010150|VHOG:0000070|EHDAA:6487|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=540|UMLS:C1522180|MBA:1065|BAMS:HB|MESH:D012249|EFO:0000923|BTO:0000672|CALOHA:TS-0457|MAT:0000107|DHBA:10653|SCTID:303456008|NCIT:C40336|BIRNLEX:942|EHDAA2:0000746|MA:0000195|FMA:67687|EHDAA:3514|EMAPA:16916|TAO:0000029|MIAA:0000107|XAO:0000015|Wikipedia:Rhombencephalon|UMLS:C0035507|ZFA:0000029 http://upload.wikimedia.org/wikipedia/commons/5/54/EmbryonicBrain.svg uberon owl:Class The most posterior of the three principal regions of the brain, forming the rhombencephalon and all or most of the metencephalon. Kimmel et al, 1995.[TAO]|Posterior part of the brain consisting of the cerebellum and medulla oblongata.[AAO] relationship loss: develops_from hindbrain neural tube (TAO:0007043)[TAO] Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG] rhombencephalic in MA, brainstem and hindbrain and part-of siblings under brain, consistent with FMA and NIF. See also notes for cerebellum. We weaken the relation in ABA to overlaps UBERON:0001778 biolink:NamedThing ciliary epithelium A double layer covering the ciliary body that produces aqueous humor. tmpxe7fu0cj_hp_relaxed.owl ciliary body epithelium|epithelium of ciliary body|ocular ciliary epithelium EMAPA:35239|CALOHA:TS-0695|SCTID:280870004|MA:0001238|Wikipedia:Ciliary_body#Ciliary_epithelium|NCIT:C32314|BTO:0001770|UMLS:C0459736|FMA:58464 uberon owl:Class GO:0002246 biolink:NamedThing wound healing involved in inflammatory response The series of events that restore integrity to damaged tissue that contribute to an inflammatory response. tmpxe7fu0cj_hp_relaxed.owl healing during inflammatory response|inflammatory response wound healing biological_process owl:Class GO:0006954 biolink:NamedThing inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. tmpxe7fu0cj_hp_relaxed.owl inflammation Wikipedia:Inflammation biological_process owl:Class HP:0002766 biolink:NamedThing Relatively short spine tmpxe7fu0cj_hp_relaxed.owl Relatively short spine UMLS:C3277114 human_phenotype owl:Class N8ee2d668a10949318787fbbed0b37a17 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008895 biolink:NamedThing splanchnocranium Subdivision of endoskeleton derived from pharyngeal arches. tmpxe7fu0cj_hp_relaxed.owl visceral cranium|visceral skeleton|pharyngeal arch skeleton|branchial arch skeleton|visceral skeletal system|viscerocranium|pharyngeal arch|gill arch skeleton|pharyngeal endoskeleton|pharyngeal skeleton VHOG:0000315|VSAO:0000149|AAO:0010157|ZFA:0001216|Wikipedia:Facial_skeleton|TAO:0001216|XAO:0003176 http://upload.wikimedia.org/wikipedia/commons/7/77/Illu_facial_bones.jpg uberon owl:Class Anatomical cluster that is part of the cranium and consists of the jaws, hyoid and branchial arches.[TAO]|The part of the skull derived from the embryonic pharyngeal arches. [Biology_Online][VHOG]|Anatomical cluster that is part of the cranium and consists of the jaws, hyoid, and branchial arches.[AAO] The skull of ancestral tetrapods has the three basic components that we have been considering: (1) chondrocranium, (2) splanchnocranium, and (3) dermatocranium (reference 1); Each part of the skull arises from a separate phylogenetic source. The most ancient part is the splanchnocranium (visceral cranium), which first arose to support pharyngeal slits in protochordates (reference 2).[well established][VHOG] many sources define this as the part of the endoskeletal that is from pharyngeal arches - this would make it part-disjoint from dermatocranium. However, there are many bones in AOs that have part-paths to both|VSAO labels this term 'pharyngeal arch' (2012-06-01) - however, it clearly means pharyngeal arch skeleton. GO:0021536 biolink:NamedThing diencephalon development The process whose specific outcome is the progression of the diencephalon over time, from its formation to the mature structure. The diencephalon is the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CL:0000138 biolink:NamedThing chondrocyte Skeletogenic cell that is terminally differentiated, secretes an avascular, GAG-rich matrix, is embedded in cartilage tissue matrix, retains the ability to divide, and develops from a chondroblast cell. tmpxe7fu0cj_hp_relaxed.owl cartilage cell FMA:66782|CALOHA:TS-0138|BTO:0000249 cell owl:Class UBERON:0035049 biolink:NamedThing excretory duct of salivary gland Any of the interlobular excretory ducts of a salivary gland which are found in the connective tissue septa and formed by the union of several intralobular striated (secretory) ducts[MP,generalized]. tmpxe7fu0cj_hp_relaxed.owl FMA:60052 uberon owl:Class HP:0002654 biolink:NamedThing Multiple epiphyseal dysplasia tmpxe7fu0cj_hp_relaxed.owl MSH:D010009|SNOMEDCT_US:59708000|UMLS:C0026760 human_phenotype owl:Class N9cb4baf3983c4cbc977f47c49a1ed6b0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001978 biolink:NamedThing parenchyma of pancreas tmpxe7fu0cj_hp_relaxed.owl pancreas parenchyma|pancreatic parenchyma VHOG:0001430|EMAPA:32925|MA:0000724|FMA:63120 uberon owl:Class PATO:0002328 biolink:NamedThing decreased angle to An angle which is relatively low. tmpxe7fu0cj_hp_relaxed.owl 2011-11-23T12:06:54Z quality owl:Class GO:0002456 biolink:NamedThing T cell mediated immunity Any process involved in the carrying out of an immune response by a T cell. tmpxe7fu0cj_hp_relaxed.owl T-cell mediated immunity|cellular immune response|cell-mediated immunity|T lymphocyte mediated immunity|T-lymphocyte mediated immunity biological_process owl:Class UBERON:0001307 biolink:NamedThing capsule of ovary A capsule that surrounds a female gonad. tmpxe7fu0cj_hp_relaxed.owl ovarian capsule|ovary capsule UMLS:C0227877|EMAPA:35626|MA:0001706|FMA:18662|NCIT:C49265 uberon owl:Class HP:0009218 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 4th finger Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of the middle bone of the ring finger UMLS:C4024523 doelkens 2009-01-05T05:23:59Z human_phenotype owl:Class N5eef6fc41d4a4fd5bdd8d858c9caf2f4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002037 biolink:NamedThing cerebellum Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]. tmpxe7fu0cj_hp_relaxed.owl infratentorial region|corpus cerebelli|epencephalon-1|parencephalon FMA:67944|UMLS:C0007765|GAID:595|EMAPA:17787|MBA:512|CALOHA:TS-0125|BAMS:Cb|EHDAA2:0000232|OpenCyc:Mx4rvl1eipwpEbGdrcN5Y29ycA|BAMS:CB|TAO:0000100|HBA:4696|MA:0000198|ZFA:0000100|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=643|BM:CB|UMLS:C1268981|EV:0100293|BIRNLEX:1489|XAO:0003098|NCIT:C12445|MESH:D002531|BTO:0000232|MIAA:0000110|MAT:0000110|EFO:0000327|VHOG:0000024|AAO:0010485|DHBA:10656 Cerebellum:NIH.png uberon owl:Class Specialized brain region derived from the dorsal metencephalon (anterior hindbrain, and perhaps including posterior midbrain) and becoming distinctive late in the segmentation period. Kimmel et al, 1995.[TAO]|Dorsal part of the hindbrain that coordinates muscle movement, posture, and balance.[AAO] However, although the lamprey possesses a region comparable to the cerebellum and display expression of LjFgf8/17 at the MHB (midbrain hindbrain boundary), it does not have Purkinje cells and cerebellar nuclei, as well as components of the rhombic lip-derived cerebellar and pre-cerebellar systems. It is noteworthy that the latter structures require specific expression of Pax6 in the rhombic lip of the gnathostome hindbrain. Interestingly, the lamprey rhombic lip does not express Pax6. Thus, it is tempting to speculate that in vertebrate evolution the rostral hindbrain is incapable of differentiating into the cerebellum before the co-option of Pax6 in that region. In other words, cerebellum has been brought about as an evolutionary innovation in gnathostomes, based on exaptation of MHB, rhombic lip, and some regulatory gene expression already present in the vertebrate common ancestor.[well established][VHOG] cerebellar The absence of a cerebellum in hagfishes and lampreys appears to be the only exception [to the rule that vertebrates possess the same number of brain divisions]. Both hagfishes and lampreys do possess a thin band of cells located medial to the lateral line centers of the medulla (Ronan and Northcutt, 1998), which has been interpreted as a primitive cerebellum (Larsell, 1967), but more recent experimental studies (Kishida et al., 1987; Weigle and Northcutt, 1998) fail to support Larsell's claim[http://icb.oxfordjournals.org/content/42/4/743.full] almost all AOs agree that the cerebellum is part of the hindbrain (sometimes specifically part of the metencephalon, which, when present, is part of the hindbrain). However, ABA has cerebellum and brain stem as partof siblings, with the hindbrain part of the brainstem UBERON:0004254 biolink:NamedThing forelimb zeugopod muscle Any muscle organ that is part of a forelimb zeugopod (lower arm)[Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lower arm muscle|forearm muscle|wing zeugopod muscle|muscle of forearm FMA:37371|MA:0000600|EMAPA:32622 uberon owl:Class UBERON:0010905 biolink:NamedThing clavicle bone primordium A primordium that develops into a clavicle bone. tmpxe7fu0cj_hp_relaxed.owl clavicle primordium EHDAA2:0000254 lateral part derives from a fish dermal bone while the medial part comes from a spur off the manubrium endochondral bone[JB] uberon owl:Class N0cae52e885354d0d991bbbaddee1f747 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000010 biolink:NamedThing peripheral nervous system A major division of the nervous system that contains nerves which connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. tmpxe7fu0cj_hp_relaxed.owl PNS|systema nervosum periphericum|pars peripherica FBbt:00005098|MA:0000218|EMAPA:16665|BTO:0001028|NCIT:C12465|MESH:D017933|UMLS:C0206417|VHOG:0000399|EV:0100335|BAMS:PNS|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=3232|GAID:715|BIRNLEX:1111|FMA:9903|XAO:0000178|EHDAA2:0001445|EHDAA:2893|MIAA:0000338|BILA:0000081|TAO:0000142|ZFA:0000142|Wikipedia:Peripheral_nervous_system|AAO:0000429|SCTID:362292005|EFO:0000891|UMLS:C1305921|MAT:0000338|CALOHA:TS-0808 http://upload.wikimedia.org/wikipedia/commons/b/ba/Nervous_system_diagram.png uberon owl:Class The peripheral nervous system (PNS) is the part of the nervous system connected to the CNS which contains cranial nerves III - XII, spinal, peripheral and autonomic nerves. (CUMBO)|Nervous structures including ganglia outside of the central nervous system. Kimmel et al, 1995.[TAO]|Part of nervous system in which nerves extend throughout the body outside of the brain and spinal cord.[AAO] (...) specific vertebrate traits within the chordate phylum such as skeletal tissues, PNS, and spectacular head and brain development, are linked to the NC (neural crest) and its derivatives.[well established][VHOG] GO:0007595 biolink:NamedThing lactation tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0003927 biolink:NamedThing Cortical irregularity of humeral diaphysis An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025501 human_phenotype owl:Class Nb594f6772c5e4130b64aad8d80522d39 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd947411b420b4551a3d3ed761893f355 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000080 biolink:NamedThing mesonephros The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo. tmpxe7fu0cj_hp_relaxed.owl opisthonephros|opistonephros|mesonephroi|opisto nephros|corpus Wolffi|Wolffian body|mesonephric kidney|middle kidney|amphibian adult kidney EHDAA:1581|MESH:D001755|ZFA:0000529|CALOHA:TS-0624|GAID:1308|XAO:0000141|EMAPA:16744|FMA:72171|NCIT:C26467|VHOG:0000038|EFO:0000928|UMLS:C0025492|EHDAA2:0001130|BTO:0001542|TAO:0000529|EHDAA:5903|AAO:0010384 http://upload.wikimedia.org/wikipedia/commons/a/ad/Gray986.png uberon owl:Class Organ that is the definitive adult kidney. It replaces the earlier pronephros, which degenerates as the mesonephros becomes functional in feeding stage tadpoles.[AAO]|A kidney formed of nephric tubules arising in the middle region of the nephric ridge; a transient embryonic stage that replaces the pronephros, but is itself replaced by the adult metanephros [in mammals; in fishes and amphibians it is the adult kidney]. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.745][VHOG] As the pronephros regresses, the archinephric duct induces the sequential differentiation of tubules in the more caudal parts of the nephric ridge. (...) Tubules that differentiate in the middle part of the nephric ridge form a kidney called the mesonephros. This kidney functions in the embryos and larvae of all vertebrates. (...) In all vertebrate embryos, the kidney begins with the differentiation of a few renal tubules from the anterior end of the nephric ridge overlying the pericardial cavity. (...) This early-developing embryonic kidney is called the pronephros.[well established][VHOG] mesonephric In mammals, the mesonephros is the second of the three embryonic kidneys to be established and exists only transiently. In fish and amphibians, the mesonephros will form the mature kidney By contrast to the pronephros, the histological features of the mammalian mesonephros, with its primitive glomeruli, suggest that it probably functions as a primitive kidney, and is involved in the production of much of the amniotic fluid. Within the two mesonephroi, one located on either side of the dorsal mesentery of the hindgut, a substantial number (in the region of about 40 or more) of cranio-caudally segmented mesonephric tubules are formed. It has, however, been suggested that only the most rostrally located 4-6 pairs of mesonephric tubules drain into the mesonephric portion of the nephric duct. This is now seen to extend along the length of the mesonephroi, being located towards their lateral sides. The mesonephros is also retained over a considerably longer period than the pronephros, but gradually undergoes regression in a cranio-caudal direction. While the rostral part displays clear evidence of regression its more caudal part appears to display evidence of functional activity. Within the medial part of the mesonephros, vesicles are formed, although no glomeruli are formed there in this species. It is, however, difficult to believe that the relatively enormous mesonephroi do not have an excretory role in the mouse, only serving as a base for gonadal differentiation. In the human embryo, the medial part of the mesonephric tubules enlarges, become invaginated by capillaries, and form glomeruli. These then take on an excretory role. In the mouse, the mesonephric ducts appear to be patent throughout their length[GUDMAP, modified] UBERON:0000916 biolink:NamedThing abdomen The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl abdominopelvis|belly|celiac region|abdominopelvic region|adult abdomen MIAA:0000298|BTO:0000020|CALOHA:TS-0001|MAT:0000298|GAID:16|EV:0100011|OpenCyc:Mx4rvVjgyZwpEbGdrcN5Y29ycA|SCTID:302553009|Wikipedia:Abdomen|EFO:0000968|MA:0000029|FMA:9577|galen:Abdomen|MESH:A01.047|EMAPA:35102 Vertebrate specific. In arthropods 'abdomen' is the most distal section of the body which lies behind the thorax or cephalothorax. If need be we can introduce some grouping class uberon owl:Class celiac|abdominal N454556bbf3614926b211553f571925ab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015410 biolink:NamedThing heart plus pericardium tmpxe7fu0cj_hp_relaxed.owl heart/pericardium MA:0002449|EMAPA:37597 uberon owl:Class HP:0009424 biolink:NamedThing Osteolytic defects of the distal phalanx of the 3rd finger Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Lytic defect of terminal phalanx of middle finger UMLS:C4021478 doelkens 2009-01-14T03:16:46Z HP:0004181 human_phenotype owl:Class N47583434c1b645ed80533982c55aff4a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003656 biolink:NamedThing mesopodium bone A bone that is part of a mesopodial skeleton. tmpxe7fu0cj_hp_relaxed.owl carpal/tarsal bone|mesopod bone|mesopodial bone|basipodium bone MA:0000295|EMAPA:36579 uberon owl:Class The carpus (wrist) and tarsus (ankle) of land vertebrates primitively had three rows of carpal or tarsal bones. Often some of these have become lost or fused in evolution. Three proximals. In the hand humans has all three. In the foot the middle proximal appears in 5-15% of people as an os trigonum. Centrale or os centrale, on the medial side. In humans and our closest relatives the African apes (chimpanzees and gorillas) it fuses to the scaphoid where it forms the articulation with the trapezoid bone; occasionally it stays separate. In Man's foot it is the navicular. Some early land vertebrates had more than one (up to three) os centrale per hand or foot. Distals, one per finger / toe at the base of each metacarpal or metatarsal. In mammals the 4th and 5th fuse. In the horse the 1st is lost UBERON:0009878 biolink:NamedThing mesopodial skeleton The collection of all skeletal elements in a mesopodium. Examples: the tarsal skeleton, the carpal skeleton. tmpxe7fu0cj_hp_relaxed.owl skeletal parts of mesopodium|mesopodium skeleton|carpal/tarsal skeleton|basipodium skeleton|basipodium|mesopodial skeleton|mesopodium VSAO:0005022 uberon owl:Class Limb skeleton subdivision consisting of endochondral bones increasing the freedom of movement of the autopodia, and located between zeugopodia and autopodia.[VSAO] relationship type change: subclass skeletal subdivision (VSAO:0000042) CHANGED TO: distally_connected_to subdivision of skeleton (UBERON:0010912)[VSAO] UBERON:0007263 biolink:NamedThing intervertebral disk of sixth cervical vertebra An intervertebral disk that connects a mammalian cervical vertebra 6 and connects a mammalian cervical vertebra 7. tmpxe7fu0cj_hp_relaxed.owl intervertebral disk, C6-C7 FMA:13899|EMAPA:19460 uberon owl:Class UBERON:0004615 biolink:NamedThing mammalian cervical vertebra 6 The sixth of the seven cervical vertebrae[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl cervical vertebra 6|sixth cervical vertebra|C6 vertebra FMA:12524|UMLS:C0459944|NCIT:C32244|EMAPA:19466|MA:0001426 elements are to be defined spatially/topologically. all mammals have 7 cervical vertebrae uberon owl:Class 6 Nd3f27eb714f3455e92f007bd59122027 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009953 biolink:NamedThing post-embryonic organism A multicellular organism that existence_starts_with a post-embryonic stage. tmpxe7fu0cj_hp_relaxed.owl TS28 mouse|postnatal mouse|postnatal organism|post-natal organism|post-hatching organism MA:0002405 uberon https://github.com/obophenotype/uberon/issues/667 owl:Class N483fdf2873bc488388c7d9f160cb2e66 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5cc29d96137646c7a253a442a213cfef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005855 biolink:NamedThing lumbar spinal cord ventral column A subdivision of spinal cord ventral column that is part of a lumbar spinal cord. tmpxe7fu0cj_hp_relaxed.owl BIRNLEX:840 uberon owl:Class UBERON:0002792 biolink:NamedThing lumbar spinal cord tmpxe7fu0cj_hp_relaxed.owl segmenta lumbalia medullae spinalis [1-5]|lumbar spinal cord|spinal cord lumbar segment|lumbar segments of spinal cord [1-5]|lumbar segment of spinal cord|pars lumbalis medullae spinalis NCIT:C12895|FMA:71168|UMLS:C1278838|UMLS:C0581620|UMLS:C0581621|BIRNLEX:1704|MA:0003083 uberon owl:Class UBERON:0010741 biolink:NamedThing bone of pectoral complex A bone that is part of a pectoral complex. Examples: scapula, manus phalanx, any carpal bone, any bone of the pectoral fin. tmpxe7fu0cj_hp_relaxed.owl forelimb bone|wing bone|bone of forelimb or pectoral fin or pectoral girdle EMAPA:32623|EMAPA:35933|MA:0000612 considering adding pectoral and pelvic complex skeleton classes uberon owl:Class note that the MA class includes girdle parts so it belongs here; UBERON:0034707 biolink:NamedThing differentiating neuroepithelium A neuroepithelium some of whose cells are undergoing terminal differentiation to become neuronal cells. tmpxe7fu0cj_hp_relaxed.owl AEO:0001010 uberon owl:Class UBERON:0006655 biolink:NamedThing septum of scrotum An incomplete wall of connective tissue and nonstriated muscle (dartos fascia) dividing the scrotum into two sacs, each containing a testis. tmpxe7fu0cj_hp_relaxed.owl septum scroti|scrotal septum EMAPA:29745|FMA:20729 uberon owl:Class CHEBI:84196 biolink:NamedThing 3-hydroxy fatty acid anion A hydroxy fatty acid anion obtained by deprotonation of the carboxy group of any 3-hydroxy fatty acid. tmpxe7fu0cj_hp_relaxed.owl 3-hydroxy fatty acid -1 C3H4O3R 88.062 88.01604 OC([*])CC([O-])=O chebi_ontology owl:Class CHEBI:59845 biolink:NamedThing 3-hydroxy fatty acid Any fatty acid with a hydroxy functional group in the beta- or 3-position. beta-Hydroxy fatty acids accumulate during cardiac hypoxia, and can also be used as chemical markers of bacterial endotoxins. tmpxe7fu0cj_hp_relaxed.owl beta-hydroxy fatty acid|beta-OH fatty acids|3-hydroxy fatty acids|beta-OH fatty acid|3-OH fatty acids|3-OH fatty acid|beta-hydroxy fatty acids 0 C3H5O3R 89.07000 89.02387 OC([*])CC(O)=O PMID:1226425|PMID:17392575|PMID:7406063|PMID:3094448 chebi_ontology owl:Class UBERON:0003654 biolink:NamedThing metatarsal bone of digit 5 A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 5. tmpxe7fu0cj_hp_relaxed.owl metatarsal 5|metatarsal V|fifth metatarsal bone|metatarsal bone digit 5|metatarsal bone of foot digit 5|hindlimb digit 5 metatarsus|toe 5 metatarsus|metatarsal bone of digit V|toe 5 metatarsal|foot digit 5 metatarsal bone AAO:0000929|FMA:24506|MA:0001373|NCIT:C52787|EMAPA:19131|UMLS:C1709003 uberon owl:Class The fifth metatarsal bone is recognized by a rough eminence, the tuberosity, on the lateral side of its base. The base articulates behind, by a triangular surface cut obliquely in a transverse direction, with the cuboid; and medially, with the fourth metatarsal. On the medial part of its dorsal surface is inserted the tendon of the Peronæus tertius and on the dorsal surface of the tuberosity that of the Peronæus brevis. A strong band of the plantar aponeurosis connects the projecting part of the tuberosity with the lateral process of the tuberosity of the calcaneus. The plantar surface of the base is grooved for the tendon of the Abductor digiti quinti, and gives origin to the Flexor digiti quinti brevis. The base of the metatarsal is often injured and a particularly notorious fracture is the Jones fracture. When the tuberosity is broken, it is called a pseudo-Jones fracture or a dancer's fracture. This is a common fracture of the fifth metatarsal. Stress fractures are common in the fifth metatarsal among athletes[Wikipedia:Fifth_metatarsal_bone].|Dumb-bell-shaped bone of endochondral origin with cartilaginous epiphyses that articulates with tarsal 5 or the distal head of the tibiale-fibulare proximally and with the proximal phalanx of digit V distally.[AAO] 5 UBERON:0010561 biolink:NamedThing pedal digit 5 metatarsal cartilage element A pedal digit metatarsal cartilage element that is part of a pedal digit 5 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl toe 5 metatarsal cartilage element|hind limb digit 5 metatarsal cartilage element|foot digit 5 metatarsal cartilage element|pedal digit V metatarsal cartilage element EMAPA:18126 uberon owl:Class N8c91c98f5e434c62ba76a6c3f9ee2623 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003389 biolink:NamedThing mesothelium of diaphragm A mesothelium that is part of a diaphragm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl meso-epithelium of diaphragm|mesothelium of thoracic diaphragm|diaphragm meso-epithelium|meso-epithelium of thoracic diaphragm|diaphragm mesothelium|thoracic diaphragm meso-epithelium|thoracic diaphragm mesothelium EMAPA:18429 uberon owl:Class HP:0003892 biolink:NamedThing Absent humeral epiphyseal ossification Lack of formation of bone in the epiphysis of the humerus. tmpxe7fu0cj_hp_relaxed.owl Absent ossification of the humeral epiphyses|Absent maturation of end part of long bone in upper arm UMLS:C4021713 Normally, the proximal humeral epiphysis can be visualized at about 40 weeks of gestation. human_phenotype owl:Class Ndf7c17130bb049959bb9f820d12a8e35 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000228 biolink:NamedThing multinucleate cell A cell with more than one nucleus. tmpxe7fu0cj_hp_relaxed.owl syncytial cell|syncytium|syncitium WBbt:0008074|AEO:0000203 cell owl:Class UBERON:0012175 biolink:NamedThing acoustico-facial VII-VIII ganglion complex tmpxe7fu0cj_hp_relaxed.owl facio-acoustic ganglion complex|facio-acoustic VII-VIII ganglion complex|facio-acoustic ganglion|facio-acoustic ganglion complex VII-VIII|acousticofacial ganglion EMAPA:16794|VHOG:0000715|EHDAA2:0000494 uberon owl:Class UBERON:0003051 biolink:NamedThing ear vesicle An epithelial sac of invaginated ectoderm formed from the otic placode that gives rise to the structures of the inner ear[MP]. tmpxe7fu0cj_hp_relaxed.owl acoustic vesicle|otocyst|auditory vesicle|otic vesicle|OV UMLS:C1518678|AAO:0011080|EHDAA2:0001342|FMA:302920|XAO:0000006|EMAPA:16669|VHOG:0001148|ZFA:0000051|TAO:0000051|BTO:0002661|NCIT:C34240 http://upload.wikimedia.org/wikipedia/commons/2/2d/Gray40.png UBERON:0004373 uberon owl:Class Epithelial sac present beside the fifth rhombomere; forms the semicircular canals dorsally and the otolith organs ventrally, and houses the acoustico-vestibular sensory epithelia (maculae) of hair cells. Kimmel et al, 1995. (Also see Anatomical Atlas entry for ear by T. Whitfield.)[TAO]|One of the paired sacs of invaginated ectoderm that develop into the membranous labyrinth of the internal ear. [Biology_online][VHOG] The inner ear develops embryonically in all vertebrates as an invagination of the ectodermal otic placode to form an otic vesicle.[well established][VHOG] MP defines as epithelial sac, but EHDAA defines as multi-tissue; See https://github.com/obophenotype/uberon/issues/1305 UBERON:0005316 biolink:NamedThing endocardial endothelium The endothelial lining of the endocardium. tmpxe7fu0cj_hp_relaxed.owl endothelium of endocardium|endocardium endothelium FMA:83596 uberon owl:Class UBERON:0001599 biolink:NamedThing stapedius muscle The muscle that stabilizes the stapes bone. The stapedius emerges from a pinpoint foramen in the apex of the pyramidal eminence (a hollow, cone-shaped prominence in the posterior wall of the tympanic cavity), and inserts into the neck of the stapes. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl musculus stapedius|stapedius VHOG:0000813|EMAPA:18586|UMLS:C0038151|EHDAA:9029|FMA:49027|MESH:D013198|NCIT:C33611|MA:0001220|GAID:164 http://upload.wikimedia.org/wikipedia/commons/6/65/Musculusstapedius.png uberon owl:Class The depressor mandibulae of tetrapods, which opens the jaws, is the homologue of the levator operculi and epihyoidean. In mammals, the depressor mandibulae evolves into the stapedius (...).[well established][VHOG] UBERON:0010929 biolink:NamedThing stapedius pre-muscle condensation tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001909 uberon owl:Class UBERON:0005418 biolink:NamedThing hindlimb bud A limb bud that develops into a hindlimb. tmpxe7fu0cj_hp_relaxed.owl leg bud|posterior limb bud|limb bud - hindlimb|hind limb bud EHDAA:2358|EMAPA:16779|AAO:0010382|RETIRED_EHDAA2:0003197|XAO:0003066|MIAA:0000256 Genes: Tbx4 specifies hindlimbs. Wnt8c restricts Fgf10 in chick. uberon owl:Class The bilateral thickening of the ectoderm in the region of the first noticeable at NF stage 47, and innervated by NF stage 51. The hind limb buds develop before the forelimb buds.[AAO] GO:0009895 biolink:NamedThing negative regulation of catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. tmpxe7fu0cj_hp_relaxed.owl inhibition of catabolic process|down-regulation of catabolic process|negative regulation of breakdown|down regulation of catabolic process|negative regulation of degradation|negative regulation of catabolism|downregulation of catabolic process biological_process owl:Class GO:0009056 biolink:NamedThing catabolic process The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. tmpxe7fu0cj_hp_relaxed.owl catabolism|degradation|breakdown|single-organism catabolic process|multicellular organismal catabolic process Wikipedia:Catabolism jl 2012-10-17T15:52:35Z GO:0044243|GO:0044712 biological_process owl:Class HP:0003860 biolink:NamedThing Diaphyseal sclerosis of the upper limbs An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in central part of long bone of upper limbs UMLS:C4025547 human_phenotype owl:Class N52ee8e166aa94a7fbc3d7b9af9e52a2e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013691 biolink:NamedThing buttock A zone of soft tissue located on the posterior of the lateral side of the pelvic region corresponding to the gluteal muscles. tmpxe7fu0cj_hp_relaxed.owl gluteal region|regio glutealis|buttocks|gluteal part of pelvic girdle|clunis NCIT:C89806|FMA:25245|CALOHA:TS-2224|MESH:D002081|UMLS:C0006497|EFO:0003070 uberon owl:Class gluteal HP:0006533 biolink:NamedThing Bronchodysplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025025 owl:Class Nc26af758fcc5441bbc024b1b5268a04f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006719 biolink:NamedThing lateral pterygoid muscle Pharyngeal arch 1 muscle that participates in oral/pharyngeal behaviors, is innervated by the lateral pterygoid nerve branches, and attaches to the condylar process of the mandible and temporomandibular joint (TMJ) capsule, and the cranial base. tmpxe7fu0cj_hp_relaxed.owl lateral pteregoid|external pterygoid muscle|lateral pteregoid muscle|musculus pterygoides lateralis|musculus pterygoideus externus|pterygoid lateralis|pterygoideus externus muscle|m. pterygoideus lateralis|pterygoideus lateral muscle|musculus pterygoideus lateralis|pterygoideus externus|m. pterygoideus externus|pterygoideus lateral|lateral pterygoid FMA:49015|UMLS:C1517045|NCIT:C32570|MA:0002360|MFMO:0000074|EMAPA:25140 http://upload.wikimedia.org/wikipedia/commons/b/bb/Musculuspterygoideuslateralis.png uberon https://github.com/obophenotype/uberon/issues/539 owl:Class Pharyngeal arch 1 muscle that participates in oral/pharyngeal behaviors, is innervated by the lateral pterygoid nerve branches, and attaches to the condylar process of the mandible and TMJ capsule, and the cranial base.[FEED] only masticatory muscle that depresses mandible (opens jaw) HP:0100900 biolink:NamedThing Sclerosis of the distal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the outermost bone of the index finger UMLS:C4021942 human_phenotype owl:Class N25a6323a10704b2581705dea3c5cc246 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002498 biolink:NamedThing deltopectoral crest A rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches. tmpxe7fu0cj_hp_relaxed.owl pectoral process|deltoid eminence|crista ventralis humeri|deltoid process|crista ventralis|deltoid crest|deltoid tuberosity|tuberositas deltoidea|deltoid tuberosity of humerus|tuberositas deltoidea (corpus humeri)|tuberositas deltoidea humeri|deltoid impression AAO:0000736|MA:0002808|EMAPA:25052|FMA:23418 http://upload.wikimedia.org/wikipedia/commons/a/a7/HumerusFront.png uberon owl:Class In basal Tetrapodomorph lineages often the deltoid process and the pectoral processes are separate and thus should not be made exact synonyms to the deltopectoral crest.[PHENOSCAPE:ad] UBERON:0000929 biolink:NamedThing pharyngeal branch of vagus nerve Motor nerve of the pharynx, arises from the upper part of the ganglion nodosum, and consists principally of filaments from the cranial portion of the accessory nerve. tmpxe7fu0cj_hp_relaxed.owl tenth cranial nerve pharyngeal branch|ramus pharyngealis nervi vagalis|vagus nerve pharyngeal branch|vagal pharyngeal branch|ramus pharyngeus nervi vagi|pharyngeal branch of vagus|ramus pharyngeus|pharyngeal branch of inferior vagal ganglion|pharyngeal branch FMA:6234 http://upload.wikimedia.org/wikipedia/commons/5/5e/Gray791.png uberon owl:Class UBERON:0001759 biolink:NamedThing vagus nerve Cranial nerve that branches into the lateral (to body sense organs) and the intestino-accessorial (to the skin, muscles of shoulder, hyoid, larynx, gut, lungs, and heart). tmpxe7fu0cj_hp_relaxed.owl nervus vagus [x]|CN-X|vagal nerve|10n|nerve X|cranial nerve X|vagus nerve tree|vagus X nerve|vagus nerve [X]|vagus nerve or its root|pneuomgastric nerve|tenth cranial nerve|nervus vagus|vagus AAO:0010475|NCIT:C12812|FMA:5731|MA:0001106|BAMS:Xn|UMLS:C1305910|MESH:D014630|TAO:0000453|GAID:721|BTO:0003472|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=702|HBA:9337|OpenCyc:Mx4rviHk2ZwpEbGdrcN5Y29ycA|MBA:917|BIRNLEX:801|VHOG:0000737|galen:VagusNerve|Wikipedia:Vagus_nerve|ZFA:0000453|BAMS:10n|EMAPA:37797|EFO:0002549|UMLS:C0042276|XAO:0003097|SCTID:362466001 http://upload.wikimedia.org/wikipedia/commons/5/5e/Gray791.png uberon owl:Class Nerve consisting of branchiomotor and visceral efferent fibers which branch and innervate the smooth muscles and glands of the heart, lungs, esophagus, and stomach as well as some throat muscles. Sensory fibers supply mucosa of the mouth and pharynx.[AAO] We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...) (reference 1); Phylogenetically, the cranial nerves are thought to have evolved from dorsal and ventral nerves of a few anterior spinal nerves that became incorporated into the braincase. Dorsal and ventral nerves fuse in the trunk but not in the head, and they produce two series: dorsal cranial nerves (V, VII, IX, and X) and ventral cranial nerves (III, IV, VI, and XIII) (reference 2).[well established][VHOG] HGNC:3012 biolink:NamedThing DPYD (human) A protein coding gene DPYD in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class NCBITaxon:9606 biolink:NamedThing Homo sapiens tmpxe7fu0cj_hp_relaxed.owl h|human ncbi_taxonomy owl:Class HP:0012424 biolink:NamedThing Chorioretinitis An inflammation of the choroid and retina. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:46627006|MSH:D002825|UMLS:C0008513 Chorioretinitis is a form of posterior uveitis. Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina. peter 2013-11-11T08:10:29Z human_phenotype owl:Class N5b820eec92a348e28ea2f731dbcaf546 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6d8aa1a391594aa89af496cbc186385c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0016829 biolink:NamedThing lyase activity Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring. tmpxe7fu0cj_hp_relaxed.owl other lyase activity EC:4.-.-.-|Reactome:R-HSA-5696408|Reactome:R-HSA-6782895 molecular_function owl:Class HGNC:4268 biolink:NamedThing CBLIF (human) A protein coding gene CBLIF in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class UBERON:0013756 biolink:NamedThing venous blood A blood that is part of a vein. tmpxe7fu0cj_hp_relaxed.owl venous blood|blood in vein|portion of venous blood FMA:83067 uberon owl:Class UBERON:0001380 biolink:NamedThing vastus medialis The vastus medialis, often called the 'teardrop' muscle, is a medially located muscle of the quadriceps. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl vastus internus|vastus medialis muscle|medialis NCIT:C117736|EMAPA:36245|BTO:0004913|galen:VastusMedialis|MA:0002403|FMA:22432 https://upload.wikimedia.org/wikipedia/commons/0/05/Illu_lower_extremity_muscles.jpg uberon owl:Class CHEBI:24873 biolink:NamedThing iron molecular entity tmpxe7fu0cj_hp_relaxed.owl iron molecular entity|iron molecular entities|iron compounds chebi_ontology owl:Class HP:0011071 biolink:NamedThing Abnormality of permanent molar morphology An abnormality of morphology of permanent molar. tmpxe7fu0cj_hp_relaxed.owl Abnormality of shape of adult molar|Abnormality of shape of permanent molar UMLS:C4023552 peter 2011-03-10T03:48:43Z human_phenotype owl:Class N030334a93541492fb20d31c80a321b6b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na8b7aba084e84f9bbdf61c7dcdd691b2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008714 biolink:NamedThing Ureterovesical stenosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024633 human_phenotype owl:Class N258d1e24d9384c9d864d82681aa025cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0035418 biolink:NamedThing protein localization to synapse Any process in which a protein is transported to, and/or maintained at the synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. tmpxe7fu0cj_hp_relaxed.owl protein localisation to synapse bf 2010-03-29T10:58:53Z biological_process owl:Class N46f5bee16a3f481fbba16b64d036edf6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc0a5cc77beb9461fb23652440ef114e2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001450 biolink:NamedThing calcaneus The postaxial bone of the proximal tarsals series[Phenoscape]. tmpxe7fu0cj_hp_relaxed.owl heel bone|calcaneus bone|fibulare|calcaneum|calcaneal bone|os calcis|os tarsi fibulare|calcanei EMAPA:19134|BTO:0002355|MESH:A02.835.232.300.710.300|NCIT:C32250|galen:Calcaneum|UMLS:C0006655|FMA:24496|VSAO:0005016|MA:0001348 Subtalar:Joint.PNG uberon owl:Class calcaneal synonymous with the fibulare of basal tetrapods. UBERON:0011152 biolink:NamedThing dorsal hyoid arch skeleton tmpxe7fu0cj_hp_relaxed.owl dorsal visceral arch 2|dorsal pharyngeal arch 2 skeleton|dorsal hyoid arch ZFA:0001401|AAO:0010371|TAO:0001401|XAO:0003178 uberon owl:Class UBERON:0005884 biolink:NamedThing hyoid arch skeleton A subdivision of skeleton that supports pharyngeal arch 2. tmpxe7fu0cj_hp_relaxed.owl hyoid arch skeleton|pharyngeal arch 2 skeleton|hyoid bars|hyoid arch|visceral arch 2 AAO:0010370|AAO:0000665|ZFA:0001276|TAO:0001276|XAO:0003177 uberon owl:Class it's not clear where AAO:'hyobranchial skeleton' belongs HP:0012820 biolink:NamedThing Bilateral vocal cord paralysis A loss of the ability to move the vocal fold on both sides. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2146481 hecht 2014-05-28T09:22:32Z human_phenotype owl:Class N6d64131b93c04623985350c77f699bdb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfe4079268bbc48d5a936a4f962e90fe3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012378 biolink:NamedThing muscle layer of urinary bladder A muscular coat that is part of a urinary bladder. tmpxe7fu0cj_hp_relaxed.owl bladder muscular coat|muscular coat of bladder|muscle layer of urinary bladder|muscular coat of urinary bladder|muscular layer of bladder|muscular layer of urinary bladder|tunica musculari vesicae|tunica muscularis (vesica urinaria) NCIT:C32206|FMA:15930|UMLS:C1288327 uberon owl:Class GO:0060047 biolink:NamedThing heart contraction The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. tmpxe7fu0cj_hp_relaxed.owl cardiac contraction|hemolymph circulation|heart beating biological_process owl:Class HP:0010084 biolink:NamedThing Duplication of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the distal phalanx of the hallux|Duplication of the outermost bone of big toe UMLS:C4021339 doelkens 2009-05-29T12:16:28Z human_phenotype owl:Class N955c9a311c9741daa2bc834419f966be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb69b43912ff84af49ee2dd6706b9093a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030870 biolink:NamedThing Abnormality of spinal facet joint An anomaly of the small joints located between and behind adjacent vertebrae. tmpxe7fu0cj_hp_relaxed.owl Abnormality of zygapophyseal joint|Abnormality of apophyseal joint|Abnormality of zygapophysial joint|Abnormality of Z-joint UMLS:C4280735 The spinal facet joints represent a set of synovial, plane joints between the articular processes of each two adjacent vertebrae. Each pair of facet joints functions to guide and limit the movement of the corresponding spinal motion segment. owl:Class N2f3ed5f8bcd6428f989048e374ab8249 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0036288 biolink:NamedThing anterior wall of left ventricle tmpxe7fu0cj_hp_relaxed.owl FMA:9560 uberon owl:Class CHEBI:35621 biolink:NamedThing alpha-aminobutyric acid An alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2. tmpxe7fu0cj_hp_relaxed.owl alpha-amino-n-butyric acid|Abu|homoalanine|2-aminobutyric acid|butyrine|2-aminobutanoic acid|2-amino-n-butyric acid|alpha-aminobutyric acid|AABA 0 C4H9NO2 InChI=1S/C4H9NO2/c1-2-3(5)4(6)7/h3H,2,5H2,1H3,(H,6,7) QWCKQJZIFLGMSD-UHFFFAOYSA-N 103.11980 103.06333 CCC(N)C(O)=O Gmelin:217679|PMID:22770225|CAS:2835-81-6|PMID:20551690|PMID:22061039|MetaCyc:CPD-3686|PMID:11958629|Reaxys:635889|PMID:22264337|PMID:15246869|Wikipedia:Alpha-Aminobutyric_acid|Beilstein:635889|DrugBank:DB04454 chebi_ontology owl:Class N2dff2350b6e4445a8933561cdc4e3963 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001312 biolink:NamedThing superior vesical artery An artery that supplies blood to the upper urinary bladder. tmpxe7fu0cj_hp_relaxed.owl arteria vesicalis superior|arteriae vesicales superiores|arteria vesicali superior EMAPA:37123|NCIT:C52686|MA:0002080|FMA:18839|UMLS:C0226376 https://upload.wikimedia.org/wikipedia/commons/0/02/Internal_iliac_branches.PNG uberon owl:Class The first part of the superior vesical artery represents the terminal section of the previous portion of the umbilical artery (fetal hypogastric artery)[WP] HP:0004679 biolink:NamedThing Large tarsal bones tmpxe7fu0cj_hp_relaxed.owl Large ankle bones UMLS:C1859116 human_phenotype owl:Class N64688f6a599b43ea8d750e0f4421febc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001093 biolink:NamedThing vertebral bone 2 The second vertebral bone in the vertebral column. tmpxe7fu0cj_hp_relaxed.owl vertebra 2|axis vertebra|C2 vertebra|second cervical vertebra|cervical vertebra 2|C2|axis [C II]|axis|cervical axis|axis (CII) UMLS:C0004457|EMAPA:19432|GAID:237|ZFA:0001168|NCIT:C32240|TAO:0001168|EHDAA:10608|OpenCyc:Mx4rv-zaJJwpEbGdrcN5Y29ycA|MESH:D001368|FMA:12520|MA:0001422 uberon owl:Class Vertebra that is posteriorly adjacent to vertebra 1.[TAO] not the same as ZFA term 'axis' 2 GO:0035898 biolink:NamedThing parathyroid hormone secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0001095 biolink:NamedThing caudal vertebra Any vertebral bone that is part of the caudal region of the vertebral column (tail or coccyx). tmpxe7fu0cj_hp_relaxed.owl tail vertebra|caudal vertebral bone element|coccygeal vertebra|caudal vertebrae|fused tail vertebra|coccygea|coccygeal segment|caudal vertebra|caudal vertebral bone MA:0000310|ZFA:0000326|OpenCyc:Mx4rv9IEzZwpEbGdrcN5Y29ycA|MA:0001420|XAO:0003079|NCIT:C32334|EMAPA:18374|TAO:0000326|UMLS:C0223616|galen:CoccygealVertebra|FMA:12527 Taxon notes In zebrafish, Vertebra bearing a hemal arch and spine. The most posterior caudal vertebrae support the caudal fin and are referred to as preural vertebrae UBERON:0006070 uberon owl:Class Vertebrae bearing a hemal arch and spine. The most posterior caudal vertebrae support the caudal fin and are referred to as preural vertebrae.[TAO] we deliberately merge the MA classes as we believe them equivalent CL:0002006 biolink:NamedThing Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell A megakaryocyte erythroid progenitor cell that is Kit-positive and is Sca1-negative, CD34-negative, CD90-negative, IL7r-alpha-negative and Fcgr II/III-low. tmpxe7fu0cj_hp_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-01-13T03:43:12Z cell owl:Class GO:0033001 biolink:NamedThing Fc-gamma receptor III complex A protein complex composed of an Fc-gamma RIII alpha chain and an Fc-epsilon RI gamma chain dimer with or without an Fc-epsilon RI beta chain and additional signaling components. The complex functions primarily as an activating receptor for IgG. tmpxe7fu0cj_hp_relaxed.owl IgG receptor complex|FcgRIII complex|immunoglobulin G receptor complex cellular_component owl:Class UBERON:0006906 biolink:NamedThing ala of nose The lateral surface parts of the external nose, inferiorly, surrounding the naris[EoM]. tmpxe7fu0cj_hp_relaxed.owl wing of nose|wings of the nose|ala nasi|wing of the nose|ala of the nose|nasal ala FMA:59519 http://upload.wikimedia.org/wikipedia/commons/e/e1/Gray852.png uberon owl:Class UBERON:0002813 biolink:NamedThing right cerebral hemisphere A cerebral hemisphere that is in the right side of a brain. tmpxe7fu0cj_hp_relaxed.owl right hemisphere SCTID:362322002|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rvigx5ZwpEbGdrcN5Y29ycA|FMA:67292|UMLS:C0228175|BIRNLEX:1797|NCIT:C33472 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0009845 biolink:NamedThing urogenital sinus mesenchyme Mesenchyme that surrounds primitive urogenital sinus. tmpxe7fu0cj_hp_relaxed.owl UGM EMAPA:31500 uberon owl:Class Androgen receptor (AR) activation releases instructive signals from UGM that acts on UGS epithelium (UGE) to stimulate cell proliferation, form prostate ductal progenitors (prostatic buds), and regulate cell adhesion dynamics to permit prostatic bud outgrowth UBERON:0000164 biolink:NamedThing primitive urogenital sinus The ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females. tmpxe7fu0cj_hp_relaxed.owl urogenital sinus|sinus urogenitalis|UGS|fetal UGS EHDAA2:0004060|UMLS:C0231057|VHOG:0000414|EHDAA:5919|NCIT:C34322|EMAPA:17379|EHDAA:5029 http://upload.wikimedia.org/wikipedia/commons/6/6d/Gray1109.png uberon owl:Class The ventral part of the cloaca after its separation from the rectum, giving rise to the lower part of the bladder in both sexes, to the prostatic portion of the male urethra, and to the urethra and vestibule in the female. [TFD][VHOG] In mammals the lowly monotremes still have a cloaca. Higher types have done away with this structure and have a separate anal outlet for the rectum. The monotreme cloaca shows the initiation of this subdivision. The cloaca has such includes only the distal part, roughly comparable to the proctodeum. The more proximal part is divided into (1) a large dorsal passage into which the intestine opens, the coprodeum, and (2) a ventral portion, the urodeum with which the bladder connects. (...) the development of the placental mammals recapitulates in many respects the phylogenetic story. In the sexually indifferent stage of placental mammal there is a cloaca. While the indifferent stage still persists, a septum develops, and extends out to the closing membrane. This divides the cloaca into two chambers: a coprodeum continuous with the gut above, and a urodeum or urogenital sinus below.[well established][VHOG] the term 'urogenital sinus' may refer to the primitive urogenital sinus present as a transient developmental structure in most mammals or it may refer to a condition in which an unseptated cloaca persists in animals longer than normal Ndb54f8e9bc074291b172ba90b75497f3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000555 biolink:NamedThing neuronal brush cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class GO:1902840 biolink:NamedThing positive regulation of nuclear migration along microtubule Any process that activates or increases the frequency, rate or extent of nuclear migration along microtubule. tmpxe7fu0cj_hp_relaxed.owl up-regulation of nuclear migration, microtubule-mediated|up-regulation of microtubule cytoskeleton-dependent nuclear positioning|up regulation of transport of nucleus by microtubules|activation of transport of nucleus by microtubules|upregulation of microtubule cytoskeleton-dependent nuclear positioning|activation of microtubule-dependent nuclear positioning|upregulation of microtubule-dependent nucleus positioning|up regulation of microtubule-mediated nuclear migration|activation of transport of nucleus, microtubule-mediated|up-regulation of microtubule cytoskeleton-dependent nucleus positioning|up-regulation of microtubule-mediated nuclear migration|up-regulation of nuclear migration along microtubule|positive regulation of nuclear migration, microtubule-mediated|activation of nuclear migration, microtubule-mediated|up-regulation of transport of nucleus, microtubule-mediated|positive regulation of microtubule cytoskeleton-dependent nuclear positioning|up regulation of nuclear migration along microtubule|upregulation of transport of nucleus by microtubules|activation of microtubule cytoskeleton-dependent nuclear positioning|up regulation of transport of nucleus, microtubule-mediated|positive regulation of microtubule cytoskeleton-dependent nucleus positioning|up regulation of microtubule-dependent nuclear positioning|positive regulation of transport of nucleus, microtubule-mediated|positive regulation of microtubule-dependent nuclear positioning|upregulation of microtubule cytoskeleton-dependent nucleus positioning|up regulation of microtubule-dependent nucleus positioning|upregulation of transport of nucleus, microtubule-mediated|positive regulation of microtubule-dependent nucleus positioning|activation of nuclear migration along microtubule|activation of microtubule cytoskeleton-dependent nucleus positioning|positive regulation of transport of nucleus by microtubules|positive regulation of microtubule-mediated nuclear migration|upregulation of microtubule-mediated nuclear migration|up-regulation of microtubule-dependent nucleus positioning|up-regulation of microtubule-dependent nuclear positioning|upregulation of microtubule-dependent nuclear positioning|up-regulation of transport of nucleus by microtubules|up regulation of microtubule cytoskeleton-dependent nuclear positioning|upregulation of nuclear migration along microtubule|upregulation of nuclear migration, microtubule-mediated|up regulation of microtubule cytoskeleton-dependent nucleus positioning|up regulation of nuclear migration, microtubule-mediated|activation of microtubule-mediated nuclear migration|activation of microtubule-dependent nucleus positioning vw 2014-04-01T13:50:35Z biological_process owl:Class GO:0030473 biolink:NamedThing nuclear migration along microtubule The directed movement of the nucleus along microtubules within the cell, mediated by motor proteins. tmpxe7fu0cj_hp_relaxed.owl transport of nucleus by microtubules|microtubule cytoskeleton-dependent nuclear positioning|microtubule cytoskeleton-dependent nucleus positioning|nuclear migration, microtubule-mediated|transport of nucleus, microtubule-mediated|nuclear movement, microtubule-mediated|microtubule-dependent nuclear positioning|microtubule-dependent nucleus positioning|microtubule-mediated nuclear migration|nucleus migration GO:0000065 biological_process owl:Class GO:0030054 biolink:NamedThing cell junction A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Cell_junction cellular_component owl:Class UBERON:0003319 biolink:NamedThing mesenchyme of carpal region Mesenchyme of the carpal region that contributes to the carpal skeleton. tmpxe7fu0cj_hp_relaxed.owl carpus mesenchyme|mesenchyme of wrist|carpal region mesenchyme|wrist mesenchyme EHDAA:5200|EHDAA2:0000220|EMAPA:19122 uberon owl:Class HP:0006166 biolink:NamedThing Tubular metacarpal bones tmpxe7fu0cj_hp_relaxed.owl Cylindrical shaped long bones of hand UMLS:C1859369 human_phenotype owl:Class N065f661b30174246a702f707a82d0c0d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7e6135cfcb9c4f049c9ada260957e478 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:27266 biolink:NamedThing valine A branched-chain amino acid that consists of glycine in which one of the hydrogens attached to the alpha-carbon is substituted by an isopropyl group. tmpxe7fu0cj_hp_relaxed.owl Valin|2-amino-3-methylbutanoic acid|valina|DL-valine|Hval|valine 0 C5H11NO2 InChI=1S/C5H11NO2/c1-3(2)4(6)5(7)8/h3-4H,6H2,1-2H3,(H,7,8) KZSNJWFQEVHDMF-UHFFFAOYSA-N 117.14638 117.07898 CC(C)C(N)C(O)=O PMID:17190852|Reaxys:506689|KEGG:C16436|Gmelin:49877|CAS:516-06-3|Beilstein:506689|PMID:22770225|Wikipedia:Valine chebi_ontology owl:Class N73d79286cec94df29e8cdc8598cd16f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004438 biolink:NamedThing proximal epiphysis of middle phalanx of manual digit 4 A proximal epiphysis that is part of a middle phalanx of manual digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of middle phalanx of fourth digit of hand|basal epiphysis of middle phalanx of ring finger|base of middle phalanx of ring finger|base of middle phalanx of fourth finger|proximal epiphysis of middle phalanx of ring finger|proximal epiphysis of middle phalanx of manual digit IV|basal epiphysis of middle phalanx of fourth finger FMA:37526 uberon owl:Class UBERON:0004322 biolink:NamedThing middle phalanx of manual digit 4 A middle phalanx that is part of a hand digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hand digit 4 middle phalanx|4th digit of hand middle phalanx|intermediate phalanx of 4th finger|4th digit of hand intermediate phalanx|fourth middle phalanx of hand|fourth finger intermediate phalanx|middle phalanx of fourth digit of hand|middle phalanx of ring finger|middle phalanx of 4th finger|hand digit 4 intermediate phalanx|4th finger intermediate phalanx|intermediate phalanx of 4th digit of hand|middle phalanx of 4th digit of hand|4th finger middle phalanx|intermediate phalanx of hand digit 4|intermediate phalanx of fourth finger|middle phalanx of manual digit IV|middle phalanx of fourth finger|fourth finger middle phalanx FMA:23935 uberon owl:Class HP:0000445 biolink:NamedThing Wide nose Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. tmpxe7fu0cj_hp_relaxed.owl Wide nose|Increased nasal breadth|Increased width of nose|Broad nose|Increased breadth of nose|Increased nasal width UMLS:C0426421|SNOMEDCT_US:249321001 HP:0000438 human_phenotype owl:Class N713d3a8d757f48d0b6dd4034c88ff60b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009327 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 3rd finger Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the middle bone of the middle finger UMLS:C4024438 doelkens 2009-01-12T11:15:44Z human_phenotype owl:Class N71ab3a3a625048908ea3b2c2a8404caa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0005576 biolink:NamedThing extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. tmpxe7fu0cj_hp_relaxed.owl extracellular Wikipedia:Extracellular Note that this term is intended to annotate gene products that are not attached to the cell surface. For gene products from multicellular organisms which are secreted from a cell but retained within the organism (i.e. released into the interstitial fluid or blood), consider the cellular component term 'extracellular space ; GO:0005615'. cellular_component owl:Class HP:0000420 biolink:NamedThing Short nasal septum Reduced superior to inferior length of the nasal septum. tmpxe7fu0cj_hp_relaxed.owl Decreased length of nasal septum|Decreased length of septum of nose|Short nasal septum|Short septum of nose UMLS:C1844857 human_phenotype owl:Class N495d6cdffa6240e9a22bd0c11f233e7a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0006955 biolink:NamedThing immune response Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Nbc96a6ab274c4fbe8510f8e8488b59e2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndad19a0f55144d4684d3fc49e2f59634 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:89593 biolink:NamedThing Craniata tmpxe7fu0cj_hp_relaxed.owl Craniata GC_ID:1 ncbi_taxonomy owl:Class GO:0002822 biolink:NamedThing regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0002460 biolink:NamedThing adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N4b9261df85b0464a88ec9e596b5cc64c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001683 biolink:NamedThing jugal bone The quadrilateral bone that forms the prominence of the cheek. tmpxe7fu0cj_hp_relaxed.owl jugale|zygomatic|orbital bone|jugal|zygoma|os zygomaticum|cheek bone|malar bone|os zygomaticus|zygomatic bone|jugal bone EMAPA:25111|MA:0001497|VHOG:0001638|MFMO:0000146|FMA:52747|GAID:225 http://upload.wikimedia.org/wikipedia/commons/2/2d/Gray164.png uberon owl:Class The jugal is a skull bone found in most reptiles, amphibians, and birds. In mammals, the jugal is often called the malar or Zygomatic. It is connected to the quadratojugal and maxilla, as well as other bones, which may vary by species. This bone is considered key in the determination of general traits of the skull, in the case of creatures, as with dinosaurs in paleontology, whose entire skull has not been found[Wikipedia:Jugal_bone].|The zygomatic bone is a paired dermal bone which articulates with the maxilla. In humans it also articulates with the temporal bone, the sphenoid bone and the frontal bone. The zygomatic is homologous to the jugal bone of other tetrapods. It is situated at the upper and lateral part of the face and forms the prominence of the cheek, part of the lateral wall and floor of the orbit, and parts of the temporal and infratemporal fossae. It presents a malar and a temporal surface; four processes, the frontosphenoidal, orbital, maxillary, and temporal; and four borders[WP,modified][Wikipedia:Zygomatic_bone]. (...) and the infraorbital bone 3 of advanced actinopterygians (is homologous) with the jugal bone of sarcopterygians.[well established][VHOG] In humans it also articulates with the temporal bone, the sphenoid bone and the frontal bone. The zygomatic is homologous to the jugal bone of other tetrapods. It is situated at the upper and lateral part of the face and forms the prominence of the cheek, part of the lateral wall and floor of the orbit, and parts of the temporal and infratemporal fossae. It presents a malar and a temporal surface; four processes, the frontosphenoidal, orbital, maxillary, and temporal; and four borders [Wikipedia:Zygomatic_bone, Wikipedia:Jugal_bone]|vHOG says is homologous to infraorbital 3. UBERON:0001562 biolink:NamedThing digastric muscle group A group of muscles (or in some classifications, muscle bellies) that are located under the jaw and attach to the base of the cranium and typically attaches to the hyoid apparatus via a common tendon. tmpxe7fu0cj_hp_relaxed.owl digastric|digastricus|digastric muscle|musculus digastricus MA:0002288|FMA:46291|NCIT:C32462|UMLS:C0224155|EMAPA:25134 this class refers to the mereological sum of digastric muscles in an organism (typically two). http://upload.wikimedia.org/wikipedia/commons/2/26/Digastricus.png uberon owl:Class The digastric muscle (also digastricus) (named digastric as it has two bellies) is a small muscle located under the jaw. It lies below the body of the mandible, and extends, in a curved form, from the mastoid process to the symphysis menti. It belongs to the suprahyoid muscles group. A broad aponeurotic layer is given off from the tendon of the digastricus on either side, to be attached to body and greater cornu of the hyoid bone; this is termed the suprahyoid aponeurosis. Wikipedia:Digastric_muscle]. In most mammals there is a common tendon between the ant. and post. muscles, which also makes a connection to the hyoid apparatus, and then the other attachment is to the base of the cranium CHEBI:24654 biolink:NamedThing hydroxy fatty acid Any fatty acid carrying one or more hydroxy substituents. tmpxe7fu0cj_hp_relaxed.owl hydroxy fatty acids PMID:18296335|LIPID_MAPS_class:LMFA0105|PMID:6419288|PMID:8274032 chebi_ontology owl:Class CHEBI:59835 biolink:NamedThing hydroxy fatty acid anion The conjugate base of any hydroxy fatty acid, formed by deprotonation of the carboxylic acid moiety. tmpxe7fu0cj_hp_relaxed.owl OH-fatty acid anion|hydroxy fatty acid anions|OH-FA-anions|OH-fatty acid anions|OH-FA anion chebi_ontology owl:Class HP:0030291 biolink:NamedThing Lower-limb metaphyseal irregularity Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022534 owl:Class N5367f51f940f44d8865165d43e41e523 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006381 biolink:NamedThing Rudimentary fibula Absent or nearly absent fibula. (Does not include aplastic) tmpxe7fu0cj_hp_relaxed.owl Small to absent fibula|Small to absent calf bone|Rudimentary to absent fibulae UMLS:C1844706 HP:0004986 human_phenotype owl:Class Ndc46ac9a1b1e4b1ba679c9491d175ff6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc7ffe5fb878b43f596e6ddc0f8bb7f74 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006921 biolink:NamedThing stomach squamous epithelium A squamous epithelium that is part of a stomach. tmpxe7fu0cj_hp_relaxed.owl EMAPA:35824|MA:0001611 uberon owl:Class GO:0051607 biolink:NamedThing defense response to virus Reactions triggered in response to the presence of a virus that act to protect the cell or organism. tmpxe7fu0cj_hp_relaxed.owl antiviral response|defense response to viruses|defence response to virus biological_process owl:Class UBERON:0008713 biolink:NamedThing pectoral girdle and thoracic body wall skeletal muscle tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001421|EMAPA:17748|RETIRED_EHDAA2:0001422 uberon owl:Class CL:0000553 biolink:NamedThing megakaryocyte progenitor cell The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative). tmpxe7fu0cj_hp_relaxed.owl MkP|colony-forming unit-megakaryocyte|megacaryocyte progenitor cell|megakaryocytic progenitor cell|CFU-Meg|promegakaryocyte|promegacaryocyte|megakaryoblast|megacaryoblast|Meg-CFC CALOHA:TS-0610|FMA:84235|BTO:0001164 Lineage negative is described here as CD2-negative, CD3-negative, CD4-negative, CD5-negative, CD8a-negative, CD14-negative, CD19-negative, CD20-negative, CD56-negative, Ly6g-negative, and Ter119-negative. cell owl:Class GO:0021753 biolink:NamedThing superior salivary nucleus development The process whose specific outcome is the progression of the superior salivary nucleus over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0002149 biolink:NamedThing superior salivatory nucleus Nucleus containing parasympathetic neurons giving rise to the parasympathetic division of the facial nerve, innervating the salivary glands (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 703). tmpxe7fu0cj_hp_relaxed.owl nucleus salivatorius superior|nucleus salivatorius cranialis|nucleus salivarius superior|nucleus salivatorius rostralis|superior salivary nucleus SCTID:369028007|Wikipedia:Superior_salivatory_nucleus|BAMS:SuS|BIRNLEX:1131|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=590|DHBA:12435|EHDAA2:0004646|HBA:9194|MBA:462|EMAPA:37756|MA:0001027|FMA:72482|BAMS:SSN|UMLS:C0175447 http://upload.wikimedia.org/wikipedia/commons/6/6b/Gray788.png uberon owl:Class Na09c5bf5d2c440e88acf918ee09b8b02 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0007268 biolink:NamedThing chemical synaptic transmission The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. tmpxe7fu0cj_hp_relaxed.owl signal transmission across a synapse|synaptic transmission|neurotransmission Wikipedia:Neurotransmission biological_process owl:Class UBERON:0015093 biolink:NamedThing distal carpal bone 4 endochondral element tmpxe7fu0cj_hp_relaxed.owl distal carpal 4 uberon owl:Class UBERON:0009880 biolink:NamedThing carpal skeleton Subdivision of skeleton that consists of the endochondral elements distal to the anterior limb/fin zeugopodial skeletal elements which constitute the proximal region of the anterior autopod skeleton[PHENOSCAPE:ad]. tmpxe7fu0cj_hp_relaxed.owl carpal bones|ossa carpi|set of carpal bones|skeletal parts of fore mesopodium|fore mesopodium|skeleton of carpus|carpal bones set|fore mesopodial skeleton|fore mesopodium skeleton|carpus AAO:0000201|VHOG:0001161|VSAO:0005023|XAO:0003207|MA:0000040|FMA:71335 http://upload.wikimedia.org/wikipedia/commons/5/58/Carpus.svg uberon owl:Class Segment of the forearm corresponding to the carpus. It consists of several elements that articulate with the radius and ulna at one end and the metacarpals at the other end.[AAO] The three main outgroup taxa of tetrapods, panderichthyids, osteolepiforms, and rhizodontids, have endoskeletal elements corresponding to the stylo- and zeugopodial elements in a tetrapod limb. In addition, there are elements that share the position and possibly the developmental derivation of the ulnare and the intermedium. From these observations, most authors have concluded that the stylo- and zeugopodial elements as well as the proximal mesopodial elements have counterparts in the fins of tetrapod ancestors, but there are no indications of wrist or ankle joints.[well established][VHOG] Not always associated with digits, in sarcopterygians the ulnare is present without true digits being formed, though their homologous radial elements are present[PHENOSCAPE:ad].|The structure of the carpus varies widely between different groups of tetrapods, even among those that retain the full set of five digits. In primitive fossil amphibians, such as Eryops, the carpus consists of three rows of bones; a proximal row of three carpals, a second row of four bones, and a distal row of five bones. The proximal carpals are referred to as the radiale, intermediale, and ulnare, after their proximal articulations, and are homologous with the scaphoid, lunate, and triquetal bones respectively. The remaining bones are simply numbered, as the first to fourth centralia (singular: centrale), and the first to fifth distal carpals. Primitively, each of the distal bones appears to have articulated with a single metacarpal. However, the vast majority of later vertebrates, including modern amphibians, have undergone varying degrees of loss and fusion of these primitive bones, resulting in a smaller number of carpals. Almost all mammals and reptiles, for example, have lost the fifth distal carpal, and have only a single centrale - and even this is missing in humans. The pisiform bone is somewhat unusual, in that it first appears in primitive reptiles, and is never found in amphibians. Because many tetrapods have less than five digits on the forelimb, even greater degrees of fusion are common, and a huge array of different possible combinations are found. The wing of a modern bird, for example, has only two remaining carpals; the radiale (the scaphoid of mammals) and a bone formed from the fusion of four of the distal carpals. In some macropods, the scaphoid and lunar bones are fused into the scaphollunar bone we assume MA:carpus belongs here, as there is a distinct class MA:wrist, with the carpal bone being part of the former. XAO:carpus is part of the forelimb skeleton. FMA set-of class lacks definition but we assume this to be equivalent. N309e4f86f7d14300bc45928590637f0d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004681 biolink:NamedThing vestibular system The sensory system for the sense of balance. tmpxe7fu0cj_hp_relaxed.owl equilibrioception system|vestibular system|vestibulomotor system|vestibular organ system BTO:0003381|EMAPA:37986|NLXANAT:090819|FMA:7193 uberon owl:Class The vestibular system, which contributes to our balance and our sense of spatial orientation, is the sensory system that provides the dominant input about movement and equilibrioception. Together with the cochlea, a part of the auditory system, it constitutes the labyrinth of the inner ear, situated in the vestibulum in the inner ear. As our movements consist of rotations and translations, the vestibular system comprises two components: the semicircular canal system, which indicate rotational movements; and the otoliths, which indicate linear accelerations. The vestibular system sends signals primarily to the neural structures that control our eye movements, and to the muscles that keep us upright. The projections to the former provide the anatomical basis of the vestibulo-ocular reflex, which is required for clear vision; and the projections to the muscles that control our posture are necessary to keep us upright[Wikipedia:Vestibular_system]. FMA and NIF have no part information for this class. This is a GAT in FMA Ncc8c4e430f4b474c98d5e3bdcedaad6f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004388 biolink:NamedThing epiphysis of fibula An epiphysis that is part of a fibula [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl fibula epiphysis FMA:33726 uberon owl:Class HP:0003641 biolink:NamedThing Hemoglobinuria The presence of free hemoglobin in the urine. tmpxe7fu0cj_hp_relaxed.owl Hemoglobin in urine|Haemoglobin in urine MSH:D006456|SNOMEDCT_US:68600005|UMLS:C0019048 If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine. human_phenotype owl:Class Nc1189ab777ab41438a53894afab5de7b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neb3b3e5f07ae4ff6b2e77d0bf2c4a9e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0bb7fed0dc4940bc82d9ef4752504760 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001465 biolink:NamedThing knee A segment of the hindlimb that corresponds to the joint connecting a hindlimb stylopod and zeugopod. tmpxe7fu0cj_hp_relaxed.owl knee region galen:Knee|EHDAA:6184|FMA:24974|GAID:48|OpenCyc:Mx4rvVjPKZwpEbGdrcN5Y29ycA|EHDAA:5159|CALOHA:TS-2220|EHDAA2:0000895|EMAPA:17493|BTO:0003595|MA:0000046|VHOG:0000347|MESH:D007717 http://upload.wikimedia.org/wikipedia/commons/8/8d/Male_Knee_by_David_Shankbone.jpg uberon owl:Class UBERON:0006946 biolink:NamedThing efferent duct The efferent ducts (or efferent ductules or ductuli efferentes) connect the rete testis with the initial section of the epididymis. The ductuli are unilaminar and composed of columnar ciliated and non-ciliated (absorptive) cells. The ciliated cells serve to stir the luminal fluids, possibly to help ensure homogeneous absorption of water from the fluid produced by the testis, which results in an increase in the concentration of luminal sperm. The epithelium is surrounded by a band of smooth muscle that helps to propel the sperm toward the epididymis. tmpxe7fu0cj_hp_relaxed.owl efferent ductule|ductuli efferentes testis|seminal duct|vasa efferentia AAO:0010532|EMAPA:18993|NCIT:C32492|MA:0000398|UMLS:C0228013|FMA:19081 http://upload.wikimedia.org/wikipedia/commons/b/b5/Hodenschema.svg uberon owl:Class Any of a group ranging from one to twelve (varies in species) small seminal ducts per testis which transport sperm from the testes to the kidney.[AAO] There are two basic designs for efferent ductule structure: a) multiple entries into the epididymis, as seen in most large mammals. In humans and other large mammals, there are approximately 15-20 efferent ducts, which also occupy nearly one third of the head of the epididymis. b) single entry, as seen in most small animals such as rodents, whereby the 3-6 ductules merge into a single small ductule prior to entering the epididymis Check EMAPA CHEBI:46842 biolink:NamedThing sarcosinium An alpha-amino-acid cation that is the conjugate acid of sarcosine, arising from protonation of the amino group. tmpxe7fu0cj_hp_relaxed.owl carboxy-N-methylmethanaminium +1 C3H8NO2 InChI=1S/C3H7NO2/c1-4-2-3(5)6/h4H,2H2,1H3,(H,5,6)/p+1 FSYKKLYZXJSNPZ-UHFFFAOYSA-O 90.10116 90.05495 [H][N+]([H])(C)CC(O)=O Gmelin:323778 chebi_ontology owl:Class UBERON:0002350 biolink:NamedThing conducting system of heart The cardiac conduction system consists of specialized cardiomyocytes that regulate the frequency of heart beat[GO]. tmpxe7fu0cj_hp_relaxed.owl cardiac conducting system|heart conduction system|impulse conducting system|cardiac impulse conducting system|systema conducente cordis|cardiac conduction system|cardionector|central conduction system|complexus stimulans cordis EFO:0003909|EHDAA2:0004185|VHOG:0001271|MESH:D006329|EV:0100025|EMAPA:35428|ZFA:0005063|TAO:0005063|MA:0000094|SCTID:281489000|FMA:9476 EHDAA2 divides the system from the tissue uberon owl:Class The fish heart displays clear polarity of contraction in a posterior-to-anterior direction. The contraction waves originate in the sinus venosus and terminate in the conus arteriosus. The nodal phenotype persists in the inflow region of the heart, varying from the venosinus to the sinoatrial junctional areas in different species . Similar to the mammalian situation, pacemaker tissue with a lower intrinsic rhythmicity is also found at the atrioventricular junction.[uncertain][VHOG] GO:0099632 biolink:NamedThing protein transport within plasma membrane A process in which protein is transported from one region of the plasma membrane to another. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0004113 biolink:NamedThing muscle of auditory ossicle A muscle of the tympanic cavity that attaches to an auditory ossicle. tmpxe7fu0cj_hp_relaxed.owl muscle of auditory ossicles|tympanic cavity muscle|ossicular muscle|auditory ossicles muscle|muscle of middle ear|muscle of tympanic cavity NCIT:C33148|UMLS:C1513769|FMA:49026|MA:0000256|EMAPA:37776 UBERON:0004112 uberon owl:Class attenuate low-frequency sounds, reduce masking of high-frequency sounds by low-frequency sounds, frequency-selection filter UBERON:0004114 biolink:NamedThing tympanic cavity Small cavity surrounding the bones of the middle ear. tmpxe7fu0cj_hp_relaxed.owl cavitas tympani|cavity of middle ear|middle ear cavity|cavitas tympanica|anatomical cavity of middle ear|tympanum|middle-ear cavity EV:0100358|EHDAA2:0004119|BTO:0002098|FMA:56461|EMAPA:37778 http://upload.wikimedia.org/wikipedia/commons/1/19/Gray923.png uberon owl:Class UBERON:0003374 biolink:NamedThing chorionic ectoderm An extraembryonic structure that develops_from a ectoderm and is part of a chorion. tmpxe7fu0cj_hp_relaxed.owl chorionic epithelium|chorion ectoderm|chorion epithelium BTO:0005145|EMAPA:16113 uberon owl:Class N08671325afbb4f328d9868b36aac02f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001027 biolink:NamedThing sensory nerve A nerve that transmits from sensory receptors on the surface of the body to the central nervous system. tmpxe7fu0cj_hp_relaxed.owl nervus sensorius|afferent nerve OpenCyc:Mx4rv0GdXpwpEbGdrcN5Y29ycA|FMA:5868|EHDAA2:0003200|Wikipedia:Sensory_nerve|AEO:0000201|FBbt:00005136 uberon owl:Class UBERON:0001687 biolink:NamedThing stapes bone The stapes or stirrup is the stirrup-shaped small bone or ossicle in the middle ear which is attached to the incus laterally and to the fenestra ovalis, the 'oval window' medially. The oval window is adjacent to the vestibule of the inner ear. The stapes is the smallest and lightest bone in the human body. The stapes transmits the sound vibrations from the incus to the membrane of the inner ear inside the fenestra ovalis. The stapes is also stabilized by the stapedius muscle, which is innervated by the facial nerve. In non-mammalian vertebrates, the bone homologous to the stapes is usually called the columella; however, in reptiles, either term may be used[WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl stelidium|columella auris|stapellos|columella|stirrup|os intermedium|interstapediale|os columellare|stapes|stilus columellare|mesostapediale|mediostapediale|columellare GAID:868|EMAPA:18585|OpenCyc:Mx4rv5UnkZwpEbGdrcN5Y29ycA|MESH:D013199|FMA:52751|NCIT:C33612|VHOG:0000688|UMLS:C0038152|MA:0001217 http://upload.wikimedia.org/wikipedia/commons/c/c1/Gray918.png uberon owl:Class This structure (the hyomandibular), on ontogenic grounds alone, can be considered homologous with the amphibian and reptilian columella and the mammalian stapes.[well established][VHOG] 'This structure [the hyomandibular], on ontogenic grounds alone, can be considered homologous with the amphibian and reptilian columella and the mammalian stapes.' Gerrie J, The phylogeny of the mammalian tympanic cavity and auditory ossicles. The Journal of Laryngology and Otology (1948) 62:339-357?[VHOG]. As the stapes first develops embryologically from the 6th to 8th week of life, it surrounds the stapedial artery, which supplies the majority of the vasculature of the embryonic head. After that period, the external carotid artery is generated and takes over for the stapedial artery, which subsequently involutes, leaving the stapes with a windowframe-like structure[WP] The stapes develops at the cranial end of the second branchial arch through an independent anlage of the cartilage of this arch. Between the stapedial anlage and the cranial end of the Reichert's cartilage there is a formation called the interhyale, the internal segment of which gives rise to the tendon of the stapedial muscle. The stapedial anlage is a unique formation with two distinct parts: the superior part that will comprise the base and the inferior part that will be crossed by the stapedial artery during embryonic development and will constitute the limbs and the head of the stapes. According to the results, the otic capsule is not involved in formation of the base of the stapes. CHEBI:22660 biolink:NamedThing aspartic acid An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent tmpxe7fu0cj_hp_relaxed.owl (R,S)-Aspartic acid|DL-Asparagic acid|(+-)-Aspartic acid|Asp|2-aminobutanedioic acid|Aspartic acid|D|DL-Aminosuccinic acid|aspartic acid 0 C4H7NO4 InChI=1S/C4H7NO4/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H,6,7)(H,8,9) CKLJMWTZIZZHCS-UHFFFAOYSA-N 133.10272 133.03751 NC(CC(O)=O)C(O)=O Gmelin:185140|PMID:22264337|Beilstein:774618|Reaxys:774618|CAS:617-45-8|Wikipedia:Aspartic_acid|KEGG:C16433 chebi_ontology owl:Class CHEBI:132943 biolink:NamedThing aspartate tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0000916 biolink:NamedThing Broad clavicles Increased width (cross-sectional diameter) of the clavicles. tmpxe7fu0cj_hp_relaxed.owl Broad collarbone SNOMEDCT_US:249680009|UMLS:C0426801 HP:0006651 owl:Class N5206e0aaf60e48038d9ae452d74fdbb3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002168 biolink:NamedThing left lung Lung which consists of the left upper lobe and left lower lobe.[FMA]. tmpxe7fu0cj_hp_relaxed.owl MA:0000425|NCIT:C32967|UMLS:C0225730|OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rvVjKy5wpEbGdrcN5Y29ycA|EMAPA:17653|Wikipedia:Left_lung|EHDAA2:0000943|VHOG:0000618|SCTID:361982005|FMA:7310|EHDAA:4947 http://upload.wikimedia.org/wikipedia/commons/d/dd/Gray973.png uberon owl:Class Lungs had already developed as paired ventral pockets from the intestine in the ancestor of Osteognathostomata.[well established][VHOG] https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern GO:1905771 biolink:NamedThing negative regulation of mesodermal cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of mesodermal cell differentiation. tmpxe7fu0cj_hp_relaxed.owl down regulation of mesoderm cell differentiation|inhibition of mesoderm cell differentiation|negative regulation of mesoderm cell differentiation|down-regulation of mesodermal cell differentiation|inhibition of mesodermal cell differentiation|downregulation of mesodermal cell differentiation|downregulation of mesoderm cell differentiation|down-regulation of mesoderm cell differentiation|down regulation of mesodermal cell differentiation rph 2016-12-21T12:44:23Z biological_process owl:Class GO:0048333 biolink:NamedThing mesodermal cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a mesoderm cell. tmpxe7fu0cj_hp_relaxed.owl mesoderm cell differentiation biological_process owl:Class UBERON:0001976 biolink:NamedThing epithelium of esophagus The epithelial layer that lines the luminal space of the esophagus. tmpxe7fu0cj_hp_relaxed.owl epithelium of oesophagus|epithelial tissue of oesophagus|esophageal epithelium|epithelial tissue of gullet|gullet epithelial tissue|epithelium of gullet|oesophagus epithelium|gullet epithelium|epithelial tissue of esophagus|esophagus epithelial tissue|oesophagus epithelial tissue|esophagus epithelium TAO:0001499|EFO:0003041|EHDAA2:0001287|NCIT:C49221|UMLS:C1179544|BTO:0001578|ZFA:0001499|MA:0001565|EMAPA:16835|FMA:63063|CALOHA:TS-0698 TODO check epithelium types: in FMA: Nonkeratinizing stratified squamous epithelium; mouse has basal and squamous subtypes; in ZFA it is columnar uberon owl:Class Simple columnar epithelium that lines the esophagus. Chen et al, 2007.[TAO] HP:0011836 biolink:NamedThing Delayed talus ossification Delayed maturation and calcification of the talus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023168 peter 2012-05-05T08:39:24Z owl:Class N60825c5472984c2fa7fc0048973a2647 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004461 biolink:NamedThing skeletal musculature of head Any collection of skeletal muscles that is part of a head [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl musculi capitis|head musculature|muscles of head|muscle group of head|set of muscles of head FMA:71287|EMAPA:18171 This class is restricted to skeletal muscles that attach to the cranial skeleton. This seems to be consistent with FMA and EMAPA usage. Note that by definition this excludes invertebrate head musculature. It corresponds to the individual muscle organ term UBERON:0002376 uberon https://github.com/obophenotype/mouse-anatomy-ontology/issues/4|https://github.com/obophenotype/uberon/issues/1405 owl:Class HP:0010443 biolink:NamedThing Bifid femur A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side. tmpxe7fu0cj_hp_relaxed.owl Notched thighbone|Split thighbone UMLS:C4023824 doelkens 2009-07-29T04:29:30Z owl:Class Nf06819f693264e6baf8a31867e0bc459 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0048738 biolink:NamedThing cardiac muscle tissue development The process whose specific outcome is the progression of cardiac muscle over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl heart muscle development biological_process owl:Class UBERON:0007689 biolink:NamedThing thyroid diverticulum Endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor[MP]. The thyroid diverticulum is the embryological structure from which thyroid follicular cells derive. It grows from the floor of the pharnyx[WP]. tmpxe7fu0cj_hp_relaxed.owl saccus thyroideus|diverticulum thyroideum uberon owl:Class CHEBI:16810 biolink:NamedThing 2-oxoglutarate(2-) An oxo dicarboxylate obtained by deprotonation of both carboxy groups of 2-oxoglutaric acid. tmpxe7fu0cj_hp_relaxed.owl 2-oxopentanedioic acid, ion(2-)|alpha-ketoglutarate|2-ketoglutarate|2-oxopentanedioate|2-oxoglutarate -2 C5H4O5 InChI=1S/C5H6O5/c6-3(5(9)10)1-2-4(7)8/h1-2H2,(H,7,8)(H,9,10)/p-2 KPGXRSRHYNQIFN-UHFFFAOYSA-L 144.08226 144.00697 [O-]C(=O)CCC(=O)C([O-])=O PMID:21196226|MetaCyc:2-KETOGLUTARATE|Gmelin:602479|PMID:19376872|Reaxys:3664503|PMID:17190852|PMID:15612731|PMID:21791173|Beilstein:3664503|PMID:21184277|PMID:11913971|CAS:64-15-3|PMID:24828042|KEGG:C00026 CHEBI:11638|CHEBI:19748 chebi_ontology owl:Class UBERON:0006589 biolink:NamedThing round ligament of uterus The round ligament of the uterus originates at the uterine horns, in the parametrium. It leaves the pelvis via the deep inguinal ring, passes through the inguinal canal and continues on to the labia majora where its fibers spread and mix with the tissue of the mons pubis[WP]. A fibromuscular band that attaches to the uterus and then passes along the broad ligament, out through the inguinal ring, and into the labium majus[MESH]. tmpxe7fu0cj_hp_relaxed.owl ligamentum teres uteri|round ligament of the uterus|Hunter's ligament|ligamentum teres of uterus|round ligament GAID:130|UMLS:C0035877|FMA:20420|NCIT:C34009 http://upload.wikimedia.org/wikipedia/commons/7/76/Gray1138.png uberon owl:Class UBERON:0008844 biolink:NamedThing gubernaculum (female) A gubernaculum that is part of a female reproductive system. tmpxe7fu0cj_hp_relaxed.owl gubernaculum ovarii|female gubernaculum The upper part of the gubernaculum, together with the ovarian artery and vein form the suspensory ligament of the ovary,[1] which suspends the ovary from the pelvic wall.; The lower gubernaculum has two vestigial remnants in females, the ovarian ligament and the round ligament of the uterus (ligamentum teres uteri) which respectively serve to support the ovaries and uterus in the pelvis uberon owl:Class UBERON:0009914 biolink:NamedThing renal lobule The portion of a renal lobe consisting of nephrons grouped around a single medullary ray and draining into a single collecting duct; human kidneys have multilobular, multipapillary architecture while mice and rats have unilobular, unipapillary kidneys. tmpxe7fu0cj_hp_relaxed.owl lobuli corticales renis|renal cortical lobule|cortical lobule|lobulus corticalis renalis|kidney lobule|reniculus|lobulus renalis|renculus|renunculus|cortical lobule of kidney FMA:17670 Alternate definition: One of the subdivisions of the kidney, consisting of a medullary ray and that portion of the convoluted port (renal corpuscles and convoluted tubules) associated with its collecting duct. -http://www.mondofacto.com/facts/dictionary?lobulus+corticalis+renalis uberon owl:Class UBERON:0006517 biolink:NamedThing kidney calyx Recesses of the kidney pelvis which divides into two wide, cup-shaped major renal calices, with each major calix subdivided into 7 to 14 minor calices. Urine empties into a minor calix from collecting tubules, then passes through the major calix, renal pelvis, and ureter to enter the urinary bladder. (From Moore, Clinically Oriented Anatomy, 3d ed, p211). tmpxe7fu0cj_hp_relaxed.owl renal calix|renal calyx|calices renales|calyx FMA:284558|MA:0000369|GAID:427|NCIT:C12927|EMAPA:18676|MESH:D007670|UMLS:C0022651 uberon owl:Class calyceal PR:000001944 biolink:NamedThing transcription factor PU.1 A protein that is a translation product of the human SPI1 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl SFFV proviral integration 1 protein|SPI1|Sfpi-1|31 kDa-transforming protein|Sfpi1 Category=gene. Requested by=CL. protein owl:Class HP:0031982 biolink:NamedThing Abnormal putamen morphology Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum. tmpxe7fu0cj_hp_relaxed.owl 2018-07-08 13:26:57+00:00 peter owl:Class N8df671032dc144d6a15d421e758a697b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003332 biolink:NamedThing negative regulation of extracellular matrix constituent secretion Any process that decreases the rate, frequency, or extent the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. tmpxe7fu0cj_hp_relaxed.owl dph 2009-11-02T02:13:49Z biological_process owl:Class GO:0070278 biolink:NamedThing extracellular matrix constituent secretion The controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell. tmpxe7fu0cj_hp_relaxed.owl ECM secretion|ECM constituent secretion biological_process owl:Class UBERON:0009506 biolink:NamedThing mesenchyme of middle ear Mesenchyme that is part of a developing middle ear. tmpxe7fu0cj_hp_relaxed.owl otic mesenchyme|middle ear associated mesenchyme EMAPA:17001|EHDAA2:0001182 uberon owl:Class Also 1st arch maxillary mesenchyme in EHDAA2 GO:0070469 biolink:NamedThing respirasome The protein complexes that form the electron transport system (the respiratory chain), associated with a cell membrane, usually the plasma membrane (in prokaryotes) or the inner mitochondrial membrane (on eukaryotes). The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. tmpxe7fu0cj_hp_relaxed.owl membrane electron transport chain|respiratory chain https://github.com/geneontology/go-ontology/issues/12846 cellular_component owl:Class UBERON:0009552 biolink:NamedThing distal segment of manual digit A segment of the manual digit containing the distal phalanx. tmpxe7fu0cj_hp_relaxed.owl fingertip|finger digit tip|finger tip|forelimb digit tip|finger distal segment|tip of finger OpenCyc:Mx4rvVjpf5wpEbGdrcN5Y29ycA UBERON:0004093 uberon owl:Class GO:0007405 biolink:NamedThing neuroblast proliferation The expansion of a neuroblast population by cell division. A neuroblast is any cell that will divide and give rise to a neuron. tmpxe7fu0cj_hp_relaxed.owl GO:0043349|GO:0043350 biological_process owl:Class Nd355cbb6c9304feca07eb10996713e34 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001653 biolink:NamedThing facial vein The anterior facial vein (facial vein) commences at the side of the root of the nose, and is a direct continuation of the angular vein where it also receives a small nasal branch. It lies behind the facial artery and follows a less tortuous course. It receives blood from the external palatine vein before it either joins the anterior branch of the retromandibular vein to form the common facial vein, or drains directly into the internal jugular vein. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl anterior facial vein|face vein|vein of face|vena facialis anterior FMA:50874|MA:0002115|OpenCyc:Mx4rvziz3JwpEbGdrcN5Y29ycA|Wikipedia:Facial_vein|NCIT:C32579|AAO:0010513|EMAPA:19220|UMLS:C0226532|SCTID:181374006 http://upload.wikimedia.org/wikipedia/commons/8/8c/Gray557.png uberon owl:Class Vein which collects blood from muscles of the head and drains into the external jugular vein.[AAO] MA and NCITA also has 'anterior facial vein' N8478262196c44a0bbead4754c980c29c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100075 biolink:NamedThing Stippling of the epiphyses of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the 4th toe bone UMLS:C4022346 doelkens 2010-06-24T09:59:30Z human_phenotype owl:Class N71c773f8de8e4b1f97cd314e771fcb87 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011019 biolink:NamedThing Abnormality of chromosome condensation An abnormality of chromosome condensation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023593 peter 2011-02-22T07:19:30Z human_phenotype owl:Class Ne06438e13bf24b6294da174136000bc0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0036990 biolink:NamedThing wall of pharyngotympanic tube tmpxe7fu0cj_hp_relaxed.owl pharyngotympanic tube wall FMA:60069 uberon owl:Class UBERON:0002393 biolink:NamedThing pharyngotympanic tube Organ with organ cavity which connects the cavity of the middle ear to the cavity of the pharynx. Examples: There are only two pharyngotympanic tubes, the right and the left pharyngotympanic tubes.[FMA]. tmpxe7fu0cj_hp_relaxed.owl tuba auditiva; tuba auditoria; tuba auditivea|tuba auditoria|tuba auditiva|pharyngo-tympanic tube|eustachian tube|auditory tube|tuba pharyngotympanica|internal auditory tube GAID:869|AAO:0000146|AAO:0011016|FMA:9705|EMAPA:17601|VHOG:0001145|MA:0000255|UMLS:C0015183|XAO:0000213|EV:0100359|NCIT:C12500 http://upload.wikimedia.org/wikipedia/commons/4/40/Ear-anatomy-text-small-en.svg we follow FMA in making this an organ, but include a separate class for the part that is epithelium, which is equivalent to the EHDAA2 structure. From this we infer the developmental relationship uberon owl:Class The narrow channel connecting the nasopharynx and the middle ear. [TFD][VHOG]|Furrow on the ventral surface of the otic capsule, and occasionally also the parasphenoid, that houses the Eustachian tube.[AAO] relationship loss: part_of braincase and otic capsule skeleton (AAO:0000052)[AAO] The tympanic cavity and auditory tube of an amniote develop from the first embryonic pharyngeal pouch, so they are homologous to the first gill pouch, or spiracle, of a fish. We are uncertain whether this homology strictly applies to the middle ear cavity and auditory tube of lissamphibians, which show certain peculiarities in their development.[uncertain][VHOG] UBERON:8420000 biolink:NamedThing hair of scalp Hair that grows on the scalp. tmpxe7fu0cj_hp_relaxed.owl hair http://orcid.org/0000-0001-8314-2140 uberon owl:Class UBERON:0000403 biolink:NamedThing scalp The outer covering of the calvaria. It is composed of several layers: SKIN; subcutaneous connective tissue; the occipitofrontal muscle which includes the tendonous galea aponeurotica; Loose connective tissue; and the pericranium (the PERIOSTEUM of the SKULL). tmpxe7fu0cj_hp_relaxed.owl scalpus CALOHA:TS-0896|EMAPA:37949|OpenCyc:Mx4rwNtaz5wpEbGdrcN5Y29ycA|FMA:46494|GAID:80|MESH:D012535|galen:Scalp|UMLS:C0036270|BTO:0001809|NCIT:C89807 Double:cowlick.jpg|http://upload.wikimedia.org/wikipedia/commons/5/55/Layers_of_the_scalp_and_meninges.png uberon owl:Class GO:0045095 biolink:NamedThing keratin filament tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:1904606 biolink:NamedThing fat cell apoptotic process Any apoptotic process in a fat cell. tmpxe7fu0cj_hp_relaxed.owl fat cell apoptosis|adipose cell apoptosis|adipose cell apoptotic process|adipocyte apoptotic process|adipocyte apoptosis sl 2015-08-27T18:13:06Z biological_process owl:Class UBERON:0001749 biolink:NamedThing parenchyma of parathyroid gland A parenchyma that is part of a parathyroid gland [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl parenchyma of parathyroid|parathyroid parenchyma|parathyroid gland parenchyma EMAPA:35664|FMA:55569|MA:0002677 uberon owl:Class HP:3000011 biolink:NamedThing Abnormality of palatoglossus muscle An abnormality of a palatoglossus muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073220 vasilevs 2015-02-26T03:56:03Z human_phenotype owl:Class N9e97cdd90095497180d72a23eaf04093 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003161 biolink:NamedThing cardiac conduction system development The process whose specific outcome is the progression of the cardiac conduction system over time, from its formation to the mature structure. The cardiac conduction system consists of specialized cardiomyocytes that regulate the frequency of heart beat. tmpxe7fu0cj_hp_relaxed.owl heart conduction system development|cardiac impulse conducting system development dph 2009-10-01T01:57:16Z biological_process owl:Class HP:0010220 biolink:NamedThing Abnormality of the epiphysis of the 2nd metacarpal Any abnormality of the epiphysis of the second metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the 2nd long bone of hand UMLS:C4023964 doelkens 2009-07-02T04:07:33Z human_phenotype owl:Class Nd9d7a58390624d539f264a2c3c4691eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008856 biolink:NamedThing stomach muscularis externa The smooth muscle layer of the stomach wall that functions to churn and mix food and gastric secretions as well as to move food along the digestive tract to the intestines. tmpxe7fu0cj_hp_relaxed.owl muscle layer of stomach|tunica muscularis gastris|tunica muscularis (gaster)|gastric muscularis|muscularis externa of stomach FMA:14909 uberon owl:Class the muscularis externa in the stomach differs from that of other GI organs in that it has three layers of smooth muscle instead of two HP:0100694 biolink:NamedThing Tibial torsion Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:249785006|UMLS:C0426900 Normally, lateral rotation of the tibia increases from approximately 5 degrees at birth to approximately 15 degrees at maturity. Tibial torsion is the most common cause of intoeing. In a study by Mullaji et al to determine tibial torsion norms, individuals in India were found to have less tibial torsion than Caucasians but about the same amount as the Japanese population. The differences in normal tibial torsion values are expected to be caused by the different lifestyles and postures of the different populations, such as cross-legged sitting positions. doelkens 2011-03-28T05:04:08Z human_phenotype owl:Class N90b1ad390cb44af5b5e7505091e932b4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040214 biolink:NamedThing Abnormal insulin level An abnormal concentration of insulin in the body. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073160 owl:Class Nb6e2f41302de4d9d80d63ee9d93178a1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011289 biolink:NamedThing pharyngobasilar fascia The pharyngeal aponeurosis (or pharyngobasilar fascia, or fibrous coat), is situated between the mucous and muscular layers. It is thick above where the muscular fibers are wanting, and is firmly connected to the basilar portion of the occipital and the petrous portions of the temporal bones. As it descends it diminishes in thickness, and is gradually lost. It is strengthened posteriorly by a strong fibrous band, which is attached above to the pharyngeal spine on the under surface of the basilar portion of the occipital bone, and passes downward, forming a median raphe, which gives attachment to the Constrictores pharyngis. tmpxe7fu0cj_hp_relaxed.owl pharyngeal aponeurosis FMA:55074 uberon owl:Class GO:0055021 biolink:NamedThing regulation of cardiac muscle tissue growth Any process that modulates the frequency, rate or extent of cardiac muscle growth. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0002010 biolink:NamedThing Narrow maxilla tmpxe7fu0cj_hp_relaxed.owl Transverse hypoplasia of maxilla|Decreased breadth of upper jaw bones|Transverse maxillary insufficiency|Decreased width of maxilla|Decreased width of upper jaw bones|Transverse maxillary deficiency|Decreased transverse dimension of maxilla|Narrow upper jaw bones UMLS:C1851835 human_phenotype owl:Class Nfdfb2dc872194d3a9e228335b85d5bec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007529 biolink:NamedThing loose mesenchyme tissue Mesenchyme whose cells are embedded in obvious amounts of extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl AEO:0000151|EHDAA2:0003151 EHDAA2:0003151 uberon owl:Class CL:0001062 biolink:NamedThing effector memory CD8-positive, alpha-beta T cell, terminally differentiated A CD8-positive, alpha beta memory T cell with the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. tmpxe7fu0cj_hp_relaxed.owl CD8-positive TEMRA|TEMRA|CD8+ TEMRA This cell type is seen in human but not found in the mouse. cell owl:Class N6afcfcd596284817aeb7aca6c523129a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002302 biolink:NamedThing myocardium of atrium The atrial part of middle layer of the heart, comprised of involuntary muscle. tmpxe7fu0cj_hp_relaxed.owl atrium myocardium|atrium cardiac muscle|atrial myocardium SCTID:191910002|MA:0000081|TAO:0001374|EFO:0003087|VHOG:0000602|FMA:83509|EMAPA:32746|ZFA:0001374 uberon owl:Class As noted, the hearts of birds and mammals have four chambers that arises from the two chambers (atrium and ventricle) of the fish heart.[uncertain][VHOG] N4dbbf1ea54d642a28f2a0f42c6974519 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011490 biolink:NamedThing Abnormal Descemet membrane morphology Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. tmpxe7fu0cj_hp_relaxed.owl Abnormality of Descemet's membrane UMLS:C4023330 peter 2012-04-02T10:23:11Z human_phenotype owl:Class N53deed46c6a0452791d47b705634f3d4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002307 biolink:NamedThing choroid plexus of lateral ventricle Part of choroid plexus contained in the lateral ventricle. tmpxe7fu0cj_hp_relaxed.owl lateral ventricle chorioid plexus of cerebral hemisphere|chorioid plexus of cerebral hemisphere of lateral ventricle|choroid plexus telencephalic ventricle|lateral ventricle choroid plexus|chorioid plexus of lateral ventricle BAMS:cplv|VHOG:0001376|EHDAA2:0004449|DHBA:10601|TAO:0001447|HBA:9708|MA:0000961|NLX:32548|ZFA:0001447|NCIT:C32309|UMLS:C0152289|EMAPA:17769|FMA:83711 uberon owl:Class UBERON:0002285 biolink:NamedThing telencephalic ventricle A brain ventricle that is part of a telencephalon. In mammals and species with an evaginated telencephalon, this is one of a pair of lateral structures, one in each hemisphere. tmpxe7fu0cj_hp_relaxed.owl tectal ventricle|telencephalic ventricle|telencephalic vesicle|lateral ventricles|forebrain ventricle|telencephalic ventricles|lateral ventricle|telencephalon lateral ventricle|lateral ventricle of brain BIRNLEX:1263|ZFA:0000696|EHDAA:3502|DHBA:10596|EFO:0001961|TAO:0000696|MESH:D020547|HBA:9419|MBA:81|BTO:0000879|GAID:611|EHDAA:6576|CALOHA:TS-1230|VHOG:0000643|FMA:78448|BAMS:LV|EHDAA2:0001984|BM:Tel-LV|BAMS:Tel-V|NCIT:C12834|EMAPA:16914|UMLS:C0152279|MA:0000192|DMBA:126651562|EV:0100307|OpenCyc:Mx4rvYsFdZwpEbGdrcN5Y29ycA modeled as space in EHDAA2 http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray734.png uberon owl:Class The two lateral ventricles are a cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube. They are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle[GO].|The lateral ventricles are part of the ventricular system of the brain. Classified as part of the telencephalon, they are the largest of the ventricles. The lateral ventricles connect to the central third ventricle through the interventricular foramina of Monro[WP]. The early development of most vertebrate brains is similar (...). The zebrafish neural tube follows the same basic differentiation pattern as the mammalian neural tube (reference 1); The brain develops from three embryonic enlargements of the neural tube, which later differentiate into five regions. A forebrain differentiates into telencephalon and diencephalon. The midbrain, or mesencephalon, remains undivided. The hindbrain divides into the metencephalon and myelencephalon. Cavities within the brain enlarge to form a series of interconnected ventricles (reference 2).[well established][VHOG] UBERON:0006271 biolink:NamedThing orbital fissure Either of two openings transmitting nerves and blood vessels to or from the orbit. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001328|EMAPA:18717|EHDAA:10648 uberon owl:Class UBERON:0001697 biolink:NamedThing orbit of skull Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball. tmpxe7fu0cj_hp_relaxed.owl orbit|orbit of skull|bony orbit|eye socket BTO:0004687|MA:0002482|NCIT:C12347|UMLS:C0029180|galen:Orbit|FMA:53074|TAO:0001410|OpenCyc:Mx4rvW8EgZwpEbGdrcN5Y29ycA|GAID:223|XAO:0003171|MESH:D009915|ZFA:0001410 uberon owl:Class Anatomical cluster that is a anterolateral part of the cranium and structurally supports the eye.[TAO] in FMA, this overlaps with bones such as the maxilla and sphenoid; in ZFA, individual bones are part of the orbit UBERON:0007148 biolink:NamedThing lumen of hindgut An anatomical cavity that surrounded_by a hindgut. tmpxe7fu0cj_hp_relaxed.owl hindgut lumen EMAPA:18396|FMA:54367 uberon owl:Class N534117e5e6e741699b78c59e05700203 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008777 biolink:NamedThing hypaxial musculature Musculature that is derived from the hypaxial myotome region, trunk muscles that lie ventral to the horizontal septum of the vertebrae. Hypaxial muscles include some vertebral muscles, the diaphragm, the abdominal muscles, and all limb muscles. tmpxe7fu0cj_hp_relaxed.owl hypaxial muscles|hypaxial muscle XAO:0003228|AAO:0000228|EMAPA:37852 uberon https://github.com/obophenotype/uberon/issues/686 owl:Class Trunk muscle that lies ventral to the horizontal septum of the vertebrae.[AAO] The hypaxial muscles are located on the lower side of the body, often below the horizontal septum in many species (primarily fish and amphibians). In amniotes, the positional distinctions have been lost as the body's muscles have changed through evolution, but in all species, the hypaxial muscles are innervated by the ventral ramus of the spinal nerves, while the epaxial muscles are innervated by the dorsal ramus. CL:0000896 biolink:NamedThing activated CD4-positive, alpha-beta T cell A recently activated CD4-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive. tmpxe7fu0cj_hp_relaxed.owl activated CD4-positive, alpha-beta T lymphocyte|activated CD4-positive, alpha-beta T-cell|activated CD4-positive, alpha-beta T-lymphocyte cell owl:Class NCBITaxon:7586 biolink:NamedThing Echinodermata tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0043933 biolink:NamedThing protein-containing complex organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. tmpxe7fu0cj_hp_relaxed.owl protein complex subunit organization|cellular macromolecular complex subunit organisation|protein complex subunit organisation|macromolecular complex subunit organisation|macromolecular complex subunit organization|protein-containing complex subunit organization|macromolecular complex organization|cellular macromolecular complex subunit organization|cellular macromolecular complex organization https://github.com/geneontology/go-ontology/issues/22580 mah 2010-09-08T10:01:42Z GO:0034600|GO:0071822|GO:0034621 biological_process owl:Class UBERON:0004008 biolink:NamedThing cerebellar plate The embryonic pseudostratified epithelium of the fourth cerebellar ventricle that eventually forms the vermis and ventral neuroepithelium. tmpxe7fu0cj_hp_relaxed.owl cerebellum roof plate|cerebellum plate EHDAA2:0004401|DHBA:12698 uberon owl:Class UBERON:0000066 biolink:NamedThing fully formed stage The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage. tmpxe7fu0cj_hp_relaxed.owl juvenile-adult stage|fully formed animal stage|adult stage WBls:0000041|EFO:0001272|XtroDO:0000084|BTO:0001043|FBdv:00005369|BilaDO:0000004 uberon https://github.com/obophenotype/uberon/issues/566 owl:Class UBERON:1100000 biolink:NamedThing digestive tract junction An anatomical junction between two parts of the digestive tract. tmpxe7fu0cj_hp_relaxed.owl 2021-02-05T11:19:31Z uberon owl:Class UBERON:0007307 biolink:NamedThing pronephric glomerular basement membrane A glomerular basement membrane that is part of a pronephros. tmpxe7fu0cj_hp_relaxed.owl pronephric glomerular filtration membrane TAO:0005313|ZFA:0005313 uberon owl:Class UBERON:0004739 biolink:NamedThing pronephric glomerulus The glomus forms from the splanchnic intermediate mesoderm and is the vascularized filtration unit, filtering the blood before it enters the tubules. The glomus is external to the nephron and extends over more than one body segment. tmpxe7fu0cj_hp_relaxed.owl glomerulus of pronephros|corpuscle|pronephric glomus|glomera|pronephric glomeruli|pronephric glomera|glomus ZFA:0001557|TAO:0001557|VHOG:0001237|AAO:0011049|XAO:0000318 a glomus differs from a glomerulus in that each vascular glomus services several tubules UBERON:0004191 uberon owl:Class Paired highly vascularized portion of the pronephros. Left and right glomeruli are fused at the midline. Begins to function between 40 and 48hpf. Drummond, 2000.[TAO] The teleost pronephros shares many essential features with the amphibian pronephros including its derivation from mesoderm associated with the coelom and the derivation of the glomerular blood supply from the medial dorsal aorta. However, unlike the pronephros of amphibians, which have an external glomus and tubules with nephrostomes open to the coelom, the mature teleost pronephros has no connection to the body cavity and instead functions as a closed system (reference 1); This variation in nephron types [with external glomeruli that open into the coelom and with internal glomeruli that do not connect with the coelom] and their pattern of distribution suggest an evolutionary sequence. Ancestral craniates probably had an external glomerulus and nephrostomes, as do the first few to develop in very primitive craniates. (...) The mechanism would become more efficient as the coelomic recess into which each glomerulus discharged became a part of the tubule, that is, grew around the glomerulus as a renal capsule. The glomerulus becomes internal. The nephrostomes were lost during subsequent evolution, leaving the type of renal tubule found in most vertebrates (reference 2).[well established][VHOG] GO treats glomus and pronephric glomerulus differently HP:0002920 biolink:NamedThing Decreased circulating ACTH level An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025669 human_phenotype owl:Class N1de54e93c97c4333a2574660340fc128 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N22e6655fbd394e88b24a6bfbed393dd6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014386 biolink:NamedThing vertebral endplate Either of the the top and bottom portions of the vertebral bodies that interface with the vertebral discs. It is composed of a layer of thickened cancellous bone. tmpxe7fu0cj_hp_relaxed.owl endplate FMA:293500|BTO:0005552 uberon owl:Class UBERON:0002483 biolink:NamedThing trabecular bone tissue Bone tissue that has a lattice-like or spongy structure; it is highly vascular and contains intercommunicating spaces filled with bone marrow. tmpxe7fu0cj_hp_relaxed.owl cancellated bone|substantia trabecularis ossium|cancellous bone|trabecular bone|cancellous bone tissue|substantia spongiosa ossium|trabecular substance|spongy bone tissue|spongy bone|substantia trabecularis|substantia spongiosa CALOHA:TS-0110|FMA:24019|EMAPA:35873|BTO:0001700|MA:0002782 one of the two types of osseous tissue that form bones. Compared to compact bone, which is the other type of osseous tissue, it has a higher surface area but is less dense, softer, weaker, and less stiff. It typically occurs at the ends of long bones, proximal to joints and within the interior of vertebrae. Cancellous bone is highly vascular and frequently contains red bone marrow where hematopoiesis, which is the production of blood cells, occurs. The primary anatomical and functional unit of cancellous bone is the trabecula. http://upload.wikimedia.org/wikipedia/commons/3/34/Illu_compact_spongy_bone.jpg uberon owl:Class CHEBI:33541 biolink:NamedThing thiosulfate(1-) tmpxe7fu0cj_hp_relaxed.owl HS2O3(-)|hydrogen sulfurothioate 0 HO3S2 113.138 112.93671 KEGG:C00320 chebi_ontology owl:Class UBERON:0001496 biolink:NamedThing ascending aorta The ascending aorta is the portion of the aorta in a two-pass circulatory system that lies between the heart and the arch of aorta[GO]. A portion of the aorta commencing at the upper part of the base of the left ventricle, on a level with the lower border of the third costal cartilage behind the left half of the sternum; it passes obliquely upward, forward, and to the right, in the direction of the heart's axis, as high as the upper border of the second right costal cartilage, describing a slight curve in its course, and being situated, about 6 cm behind the posterior surface of the sternum. The total length is about 5 cm in length [Wikipedia]. tmpxe7fu0cj_hp_relaxed.owl aorta ascendens|ascending thoracic aorta|pars ascendens aortae OpenCyc:Mx4rwVFqO5wpEbGdrcN5Y29ycA|FMA:3736|EHDAA:9828|EMAPA:17014|EHDAA2:0000147|NCIT:C32150|MA:0002570|UMLS:C0003956 http://upload.wikimedia.org/wikipedia/commons/e/e6/Gray506.svg uberon owl:Class HP:0000414 biolink:NamedThing Bulbous nose Increased volume and globular shape of the anteroinferior aspect of the nose. tmpxe7fu0cj_hp_relaxed.owl Bulbous nasal tip|Bulbous nose|Potato nose MSH:C538354|UMLS:C1855751|UMLS:C0240543|UMLS:C1834118 This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip. HP:0000443 human_phenotype owl:Class N1ad532a28a9a4d4c8af93dd27e982f1c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003584 biolink:NamedThing mammary gland connective tissue The fibrous supportive tissue of the mammary gland. tmpxe7fu0cj_hp_relaxed.owl lactiferous gland stroma|connective tissue of lobe of mammary gland|connective tissue of lobe of breast|mammary gland stroma|connective tissue of mammary gland|stroma of lactiferous gland|lactiferous gland connective tissue|connective tissue of lactiferous gland|lactiferous gland portion of connective tissue|mammary stroma FMA:74479|EMAPA:35537|MA:0002897|FMA:74483 uberon owl:Class UBERON:0003326 biolink:NamedThing mesenchyme of mammary gland Mesenchyme that is part of a developing mammary gland. tmpxe7fu0cj_hp_relaxed.owl lobe of mammary gland mesenchyme|lobe of breast mesenchyme|mesenchyme of lobe of breast|mesenchyme of lactiferous gland|mammary mesenchyme|lactiferous gland mesenchyme|mesenchyme of lobe of mammary gland|mammary gland mesenchyme VHOG:0001087|EHDAA:6528|EMAPA:17761|EHDAA2:0001058 uberon owl:Class N712314c8f3b147b3b08378b3ebfc08e5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004084 biolink:NamedThing genital labium One of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening. tmpxe7fu0cj_hp_relaxed.owl genital labia|labia|labium CALOHA:TS-2210|galen:Labia|UMLS:C0227759|FMA:321903|EMAPA:30837|NCIT:C52559|MA:0002464 uberon owl:Class labial UBERON:0005056 biolink:NamedThing external female genitalia An external genitalia that is part of a female reproductive system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl external female genital organ|female external genitalia|organa genitalia feminina externa|external genitalia of female reproductive system galen:FemaleExternalGenitalia|EMAPA:30984|BTO:0003100|FMA:45649|SCTID:362234008 TODO: Relabel. Make distinct organ class. See https://github.com/obophenotype/uberon/issues/547 uberon owl:Class in eutherians, this is known as the vulva in and composed of the mons pubis, the labia majora and minora, the clitoris, the vestibule of the vagina and its glands, and the opening of the urethra and of the vagina [MP:0003126] HP:0500204 biolink:NamedThing Decreased CSF arginine concentration Abnormally decreased levels of arginine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Low arginine levels in cerebrospinal fluid 2019-02-25 17:12:54+00:00 owl:Class N39eb6f6212084b3b9160bd0681dea2c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0006699 biolink:NamedThing bile acid biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:1903998 biolink:NamedThing regulation of eating behavior Any process that modulates the frequency, rate or extent of eating behavior. tmpxe7fu0cj_hp_relaxed.owl regulation of eating behaviour sl 2015-03-05T20:40:22Z biological_process owl:Class GO:0042755 biolink:NamedThing eating behavior The specific behavior of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue. tmpxe7fu0cj_hp_relaxed.owl eating behaviour biological_process owl:Class N46cdb6892ca94e6590a8a550569438ad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0050906 biolink:NamedThing detection of stimulus involved in sensory perception The series of events involved in sensory perception in which a sensory stimulus is received and converted into a molecular signal. tmpxe7fu0cj_hp_relaxed.owl sensory detection of stimulus|sensory perception, sensory transduction of stimulus|sensory perception, stimulus detection|sensory transduction Wikipedia:Transduction_(physiology) biological_process owl:Class N3fe3f9a773fa4273a8c05317198c5003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015023 biolink:NamedThing phalanx endochondral element A phalanx bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl phalanx skeletal element|phalanx element uberon owl:Class UBERON:0001586 biolink:NamedThing internal jugular vein One of two jugular veins that collect the blood from the brain, the superficial parts of the face, and the neck. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl internal jugular venous tree|vena jugularis interna|internal jugular FMA:4724|UMLS:C0226550|EHDAA2:0000877|NCIT:C32849|OpenCyc:Mx4rvqdb95wpEbGdrcN5Y29ycA|EHDAA:5407|XAO:0000382|galen:InternalJugularVein|EMAPA:17620|Wikipedia:Internal_jugular_vein|AAO:0010236|RETIRED_EHDAA2:0000878|MA:0002157|SCTID:181372005 http://upload.wikimedia.org/wikipedia/commons/e/e9/Gray562.png uberon owl:Class Vein which receives many veins draining the palate, brain, and the orbital, nasal, and auditory regions.[AAO] UBERON:0011200 biolink:NamedThing sacrococcygeal symphysis The sacrococcygeal symphysis (sacrococcygeal articulation, articulation of the sacrum and coccyx) is an amphiarthrodial joint, formed between the oval surface at the apex of the sacrum, and the base of the coccyx. It is a slightly moveable joint which is frequently, partially or completely, obliterated in old age, homologous with the joints between the bodies of the vertebrae. tmpxe7fu0cj_hp_relaxed.owl sacrococcygeal joint NCIT:C33506|UMLS:C0224593|FMA:16210 http://upload.wikimedia.org/wikipedia/commons/7/7f/Gray320.png uberon owl:Class UBERON:0005467 biolink:NamedThing platysma The platysma is a pharyngeal arch 2 muscle and a superficial facial muscle that participates in oral/pharyngeal behaviors and is innervated by the cervical branch of the facial nerve. It attaches to the mandible and it attaches to the skin of the head, neck, and thoracic region where it is found superficial to the clavicle. Burrows et al. (2011) argue that in hylobatids (and, presumably, other primates) the platysma in the region of the modiolus represents both the cervicale and myoides muscles. tmpxe7fu0cj_hp_relaxed.owl platysma muscle|platysma myoides|platysma cervicale|neck platysma muscle EHDAA2:0001474|EHDAA:8270|EMAPA:18190|VHOG:0000931|BTO:0005124|MA:0003026|MFMO:0000059|UMLS:C1514163|NCIT:C33329|FMA:45738 Human variation notes: Variations occur in the extension over the face and over the clavicle and shoulder; it may be absent or interdigitate with the muscle of the opposite side in front of the neck; attachment to clavicle, mastoid process or occipital bone occurs. A more or less independent fasciculus, the occipitalis minor, may extend from the fascia over the trapezius to fascia over the insertion of the sternocleidomastoideus. http://upload.wikimedia.org/wikipedia/commons/f/fb/Platysma.png uberon https://github.com/obophenotype/uberon/issues/472 owl:Class The platysma is a pharyngeal arch 2 muscle and a superficial facial muscle that participates in oral/pharyngeal behaviors and is innervated by the cervical branch of the facial nerve, and attaches to the skin.[FEED] One of these (facial muscles in mammals), the platysma, is an unspecialized muscle derived from the hyoid arch.[well established][VHOG] Nfa7c2889ea954fb4b3b6a026a52b091c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004872 biolink:NamedThing splanchnic layer of lateral plate mesoderm Layer of lateral plate mesoderm that forms the circulatory system and future gut wall - overlies endoderm[WP]. tmpxe7fu0cj_hp_relaxed.owl inner layer of lateral plate mesoderm|visceral mesoderm|splanchnic mesoderm AAO:0011102|Wikipedia:Lateral_plate_mesoderm#Division_into_layers|FMA:295568|XAO:0000276|BILA:0000044 uberon owl:Class We group the BILA class here. Considering adding more general class for metazoa grouping cardiogenic successors UBERON:0003081 biolink:NamedThing lateral plate mesoderm Portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures[MP]. tmpxe7fu0cj_hp_relaxed.owl lateral mesoderm|lateral plate mesenchyme|mesoderma laminae lateralis|lateral plate|LPM VHOG:0000118|EHDAA:379|ZFA:0000121|SCTID:361477005|XAO:0000311|NCIT:C34199|AAO:0010574|Wikipedia:Lateral_plate_mesoderm|FMA:293149|UMLS:C1517749|TAO:0000121|EHDAA2:0000919|EMAPA:16179 http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png UBERON:0006258 uberon owl:Class Portion of mesoderm traditionally thought to give rise to limb bones and parts of the girdles.[AAO]|The portion of the mesoderm of the trunk of vertebrate embryos lying lateral to the intermediate mesoderm. [...] [It] subdivides into two plates: one dorsal, called the somatopleure, and one ventral, called the splanchnopleure. [Gastrulation:_From_cells_to_embryo_(2004)_Cold_Spring_Harbor, Glossary_XV, New_York:_Cold_Spring_Harbor_Laboratory_Press, Stern_CD][VHOG] A ventrolateral zone of amphioxus mesoderm grows down to surround the gut. Homology of this zone to the lateral plate mesoderm of vertebrates is supported by site of origin and fate.[well established][VHOG] subclass of mesoderm in ZFA. Nc4c522e5335b4d6f87e56c2f0b9ce350 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000981 biolink:NamedThing femur Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified]. tmpxe7fu0cj_hp_relaxed.owl os longissimum|mesomere 1 of pevlic appendage|os femorale|femoral bone|thigh bone|proximal metapterygial mesomere of pelvic appendage|os femoris|proximal metapterygial mesomere of pelvic fin UMLS:C0015811|EFO:0001396|FMA:9611|AAO:0000887|BTO:0001284|GAID:199|galen:Femur|VSAO:0000186|XAO:0003214|NCIT:C12717|MESH:A02.835.232.500.247|AAO:0000889|CALOHA:TS-0322|VHOG:0001159|EMAPA:19143|MA:0001359|OpenCyc:Mx4rvVjOJJwpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/7/73/Gray252.png uberon owl:Class Paired, elongate, cylindrical bones of endochondral origin that form the thighs, extending from the pelvic girdles to the knees.[AAO]|Endochondral longbone connecting the pelvic girdle with posterior zeugopodium.[VSAO] Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] femoral GO:1904478 biolink:NamedThing regulation of intestinal absorption Any process that modulates the frequency, rate or extent of intestinal absorption. tmpxe7fu0cj_hp_relaxed.owl rl 2015-07-13T15:58:47Z biological_process owl:Class GO:0050892 biolink:NamedThing intestinal absorption Any process in which nutrients are taken up from the contents of the intestine. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N9f02eecd684b4c029dd95ba86bd35560 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:32784 biolink:NamedThing tyrosinate(1-) An alpha-amino-acid anion that is the conjugate base of tyrosine, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl hydrogen tyrosinate|2-amino-3-(4-hydroxyphenyl)propanoate|tyrosine anion|tyrosinate(1-) -1 C9H10NO3 InChI=1S/C9H11NO3/c10-8(9(12)13)5-6-1-3-7(11)4-2-6/h1-4,8,11H,5,10H2,(H,12,13)/p-1 OUYCCCASQSFEME-UHFFFAOYSA-M 180.18064 180.06662 NC(Cc1ccc(O)cc1)C([O-])=O Beilstein:4139515|Beilstein:3548387|Gmelin:329372 chebi_ontology owl:Class CHEBI:32785 biolink:NamedThing tyrosinate(2-) tmpxe7fu0cj_hp_relaxed.owl 2-amino-3-(4-oxidophenyl)propanoate|tyrosine dianion|tyrosinate|tyrosinate(2-) -2 C9H9NO3 InChI=1S/C9H11NO3/c10-8(9(12)13)5-6-1-3-7(11)4-2-6/h1-4,8,11H,5,10H2,(H,12,13)/p-2 OUYCCCASQSFEME-UHFFFAOYSA-L 179.17270 179.05934 NC(Cc1ccc([O-])cc1)C([O-])=O chebi_ontology owl:Class CHEBI:60466 biolink:NamedThing peptide zwitterion Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged. tmpxe7fu0cj_hp_relaxed.owl a peptide|peptide zwitterions 0 C2H4NO2R(C2H2NOR)n chebi_ontology owl:Class N51ff2af06f23417b96ea5eb6463a8972 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100924 biolink:NamedThing Sclerosis of toe phalanx An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Sclerosis of the phalanges of the toes|Increased bone density in the toe bone UMLS:C4020932 doelkens 2011-12-02T11:08:43Z human_phenotype owl:Class Nef6b3e0879f94dc2a8f59ec10e21c27d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:5103622 biolink:NamedThing manual digit 2 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 2 plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl manual digit 2 skeleton|manual digit 2|manual digit II digitopodial skeleton this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class UBERON:0009570 biolink:NamedThing spinal cord sulcus limitans A sulcus limitans of neural tube that is part of a future spinal cord. tmpxe7fu0cj_hp_relaxed.owl spinal cord lateral wall sulcus limitans VHOG:0001548|EMAPA:17584|EHDAA2:0001265 uberon owl:Class UBERON:0006241 biolink:NamedThing future spinal cord tmpxe7fu0cj_hp_relaxed.owl presumptive spinal cord neural rod|presumptive spinal cord|presumptive spinal cord neural keel|presumptive spinal cord neural plate ZFA:0000417|EMAPA:16755|EHDAA2:0000674|EFO:0003438|EHDAA:898|EMAPA:16092|TAO:0000417 uberon owl:Class HP:0007302 biolink:NamedThing Bipolar affective disorder tmpxe7fu0cj_hp_relaxed.owl Bipolar disorder UMLS:C0005586|SNOMEDCT_US:13746004|MSH:D001714 HP:0000755 owl:Class N8e6891b16ee54da8931326f34530685d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008311 biolink:NamedThing Spinal cord posterior columns myelin loss tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024706 human_phenotype owl:Class Nb21c82a4b79f44c2afeb60277e759fad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:24149 biolink:NamedThing galactonic acid A hexonic acid that has been found to increase in red blood cells of galactosemic patients. tmpxe7fu0cj_hp_relaxed.owl 0 C6H12O7 196.156 196.05830 PMID:14680973 chebi_ontology owl:Class GO:0010936 biolink:NamedThing negative regulation of macrophage cytokine production Any process that decreases the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N84e783916ba943da8ca713a92ac00a58 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0030324 biolink:NamedThing lung development The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:32457 biolink:NamedThing cysteinate(2-) tmpxe7fu0cj_hp_relaxed.owl cysteinate(2-)|cysteinate|cysteine dianion|2-amino-3-sulfidopropanoate -2 C3H5NO2S InChI=1S/C3H7NO2S/c4-2(1-7)3(5)6/h2,7H,1,4H2,(H,5,6)/p-2 XUJNEKJLAYXESH-UHFFFAOYSA-L 119.14334 119.00520 NC(C[S-])C([O-])=O Gmelin:49990 chebi_ontology owl:Class UBERON:0012082 biolink:NamedThing bronchial lumen An anatomical cavity that is part of a bronchus. tmpxe7fu0cj_hp_relaxed.owl bronchial lumen|lumen of bronchus FMA:62646 uberon owl:Class HP:0500140 biolink:NamedThing Decreased circulating hydroxyproline concentration A decreased amount of hydroxyproline in the blood. tmpxe7fu0cj_hp_relaxed.owl Low level of hydroxyproline in the blood|Decreased hydroxyproline in the blood 2018-10-03 19:43:23+00:00 owl:Class N459f40bc93d04deea539589138c90195 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001222 biolink:NamedThing right ureter An ureter that is part of a right side of organism [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl MA:0001685|EMAPA:37373|UMLS:C0227682|NCIT:C49327|FMA:15571 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern HP:0009912 biolink:NamedThing Abnormal tragus morphology An abnormality of the tragus. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the tragus UMLS:C4024162 The tragus is the small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the auditory canal. peter 2009-05-01T03:39:56Z owl:Class Ne6f34ada05de45579f833e2938ce8afc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0034902 biolink:NamedThing sacral sympathetic nerve trunk tmpxe7fu0cj_hp_relaxed.owl sacral sympathetic trunk|sacral sympathetic chain|sacral part of sympathetic trunk|pelvic sympathetic trunk|pelvic sympathetic nerve trunk MA:0001164|EMAPA:37656|FMA:6264 uberon owl:Class UBERON:0005473 biolink:NamedThing sacral region A subdivision of an organism along the anterior-posterior axis in the pelvic region immediately posterior to the lumbar region and anterior to the caudal region. Sometimes an intermediate region is defined between the sacral and caudal. tmpxe7fu0cj_hp_relaxed.owl hindquarter|regio sacralis|croup|posterior part of pelvis|back of pelvis|sacral part of pelvis|pelvic back|rump FMA:24228 uberon owl:Class pygal|sacral Amphibians - 1 sacral vertebra; Living reptiles & most birds - 2 sacral vertebrae; Most mammals - 3 to 5 sacral vertebrae. TODO - split sacral from sacrococcygeal CHEBI:46883 biolink:NamedThing carboxy group tmpxe7fu0cj_hp_relaxed.owl -C(O)OH|-COOH|carboxyl group|carboxy|CARBOXY GROUP|-CO2H 0 CHO2 45.01744 44.99765 *C(=O)O PDBeChem:FMT CHEBI:41420|CHEBI:23025 chebi_ontology owl:Class HP:0008194 biolink:NamedThing Multiple pancreatic beta-cell adenomas The presence of multiple pancreatic islet cell adenomas. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024718 human_phenotype owl:Class N18cab2e8c0834bcd80ff1c5a24cd8464 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne8d9ad0adf7b4208b0b0222a499aba65 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009345 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 3rd finger A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the outermost long bone of the middle finger|Delta-shaped epiphysis of the distal phalanx of the 3rd finger UMLS:C4021489 doelkens 2009-01-12T11:18:33Z human_phenotype owl:Class N90c69daf5ea84b3ea90d5279aa267f64 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N73a8685388d24b3092c3deaceb076f8e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002100 biolink:NamedThing trunk Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present. tmpxe7fu0cj_hp_relaxed.owl torso|thoracolumbar region|Rumpf|trunk region MIAA:0000296|BILA:0000116|MAT:0000296|CALOHA:TS-1071|AAO:0010339|BTO:0001493|TAO:0001115|SCTID:262225004|XAO:0003025|EFO:0000966|EMAPA:31857|galen:Trunk|NCIT:C33816|FMA:7181|OpenCyc:Mx4rvVkJjpwpEbGdrcN5Y29ycA|XAO:0000054|MA:0000004|UMLS:C0460005|Wikipedia:Torso|ZFA:0001115 uberon owl:Class Organism subdivision which is the part of the body posterior to the head and anterior to the tail.[TAO]|Organism subdivision that is the part of the body posterior to the head and anterior to the tail.[AAO] UBERON:0001166 biolink:NamedThing pylorus The stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum. tmpxe7fu0cj_hp_relaxed.owl pars pylorica|pars pylorica gastricae|pyloric part of stomach|valvula pylori|stomach pyloric region|pyloric region BTO:0001146|MA:0002560|GAID:333|FMA:14581|UMLS:C0034196|NCIT:C12260|VHOG:0000420|MESH:A03.492.766.799|EHDAA2:0001580|EMAPA:17631|galen:Pylorus|EHDAA:4860 http://upload.wikimedia.org/wikipedia/commons/3/31/Gray1046.svg We follow Kardong in defining stomach regions by glands uberon owl:Class The orifice which allows the passage from the stomach into the intestine. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] pyloric UBERON:0001330 biolink:NamedThing pampiniform plexus The pampiniform plexus is a network of many small veins found in the male spermatic cord. It is formed by the union of multiple spermatic veins from the back of the testis and tributaries from the epididymis. The veins of the plexus ascend along the cord in front of the ductus deferens. Below the subcutaneous inguinal ring they unite to form three or four veins, which pass along the inguinal canal, and, entering the abdomen through the abdominal inguinal ring, coalesce to form two veins. These again unite to form a single vein, the testicular vein, which opens on the right side into the inferior vena cava, at an acute angle, and on the left side into the left renal vein, at a right angle. The pampinoform plexus forms the chief mass of the cord. In addition to its function in venous return from the testes, the pampiniform plexus also plays a role in the temperature regulation of the testes. It acts as a heat exchanger, cooling blood in adjacent arteries. An abnormal enlargement of the pampiniform plexus is a medical condition called varicocele. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl venous plexus of fascia of prostate|venous plexus of fascia of prostate gland|plexus of veins of fascia of prostate|pampiniform venous plexus|plexus venosus pampiniformis FMA:19607|MA:0001866|EMAPA:37385 http://upload.wikimedia.org/wikipedia/commons/a/af/Gray1147.png uberon owl:Class UBERON:0005352 biolink:NamedThing spermatic cord The cord-like structure in males comprising the vas deferens and associated tissue that runs from the abdomen down to each testis[MP]. tmpxe7fu0cj_hp_relaxed.owl funiculus spermaticus|spermatic chord MESH:D013085|FMA:19937|GAID:395|UMLS:C0037855|NCIT:C12329 Male:anatomy.png uberon owl:Class CHEBI:59561 biolink:NamedThing diamino acid anion An organic anion that is the conjugate base of diamino acid. tmpxe7fu0cj_hp_relaxed.owl diamino acid anions chebi_ontology owl:Class HP:0010897 biolink:NamedThing Hypersarcosinuria An elevated urinary concentration of sarcosine. tmpxe7fu0cj_hp_relaxed.owl High urine sarcosine levels UMLS:C4023669 peter 2010-11-30T05:43:45Z human_phenotype owl:Class N0bf64c4db3744de7b4e824548cba5b87 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011962 biolink:NamedThing transverse tarsal joint The transverse tarsal joint is formed by the articulation of the calcaneus with the cuboid, and the articulation of the talus with the navicular. The movement which takes place in this joint is more extensive than that in the other tarsal joints, and consists of a sort of rotation by means of which the foot may be slightly flexed or extended, the sole being at the same time carried medially (inverted) or laterally. tmpxe7fu0cj_hp_relaxed.owl chopart's joint|midtarsal joint|articulatio tarsi transversa NCIT:C102354|FMA:35201 uberon owl:Class UBERON:0003068 biolink:NamedThing axial mesoderm The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. tmpxe7fu0cj_hp_relaxed.owl chordamesoderm XAO:0000205|VHOG:0000107|Wikipedia:Chordamesoderm|ZFA:0001204|EFO:0003647|TAO:0001204|AAO:0011017 http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png uberon owl:Class The portion of the mesoderm underlying the midline of the embryo. [Gastrulation:_From_cells_to_embryo_(2004)_Cold_Spring_Harbor, Glossary_XV, New_York:_Cold_Spring_Harbor_Laboratory_Press, Stern_CD][VHOG] Naeff84ab7fe74241aa8a83e4c6aff925 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N528a912b294f40e3a43fd1cb032b20f3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009944 biolink:NamedThing Partial duplication of thumb phalanx A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the thumb bones|Partial duplication of the phalanges of the thumb|Notching of thumb phalanges|Bifid thumb UMLS:C4082168 doelkens 2009-05-15T12:51:57Z HP:0004070|HP:0001244 human_phenotype owl:Class Ncc29e36b793a4263ac68577a8dffde3a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfc9602e66892422c9062c4f07ce581cf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001576 biolink:NamedThing intrinsic muscle of tongue The intrinsic tongue muscles are an integral part of the tongue and completely contained within the tongue that are innervated by Cranial Nerve XII. tmpxe7fu0cj_hp_relaxed.owl intrinsic lingual muscle|intrinsic tongue muscle FMA:46701|EHDAA2:0002064|VHOG:0000748|EMAPA:18280|EHDAA:9152|SCTID:244788005|MA:0002327 uberon owl:Class The intrinsic tongue muscles are an integral part of the tongue that are innervated by Cranial Nerve XII.[FEED] The lamprey head contains another group of muscles, the epi- and hypo-branchial muscles (EBM and HBM), derivatives of anterior trunk myotomes. (...) The origin and the migration pattern of HBM precursors are very similar to that of the gnathostome MPP, especially to that of the tongue muscle precursors. Other evidence of homology of lamprey HBM to the gnathostome tongue muscle is that HBM is innervated by the nerve termed the hypoglossal nerve based on its morphological position associated with the head/trunk interface. (...) The HBM-specific expression of the LampPax3/7 gene is consistent with the homology of this muscle to the gnathostome tongue muscle, or to the hypobranchial series as a whole (including the infrahyoid and possibly the diaphragm in mammals).[well established][VHOG] The main function of the intrinsic muscles is to provide shape. They are not involved with changing the position of the tongue and are not attached to bone HP:0006514 biolink:NamedThing Intraalveolar nodular calcifications tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025028 human_phenotype owl:Class N60c1e02937f2456da054a153b2d73bb8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009550 biolink:NamedThing Osteolytic defects of the phalanges of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Lytic defect in index finger phalanges UMLS:C4021443 doelkens 2009-01-21T10:20:26Z HP:0004114 human_phenotype owl:Class N3b740f1633ff4f659d7e2267147bfc3e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009611 biolink:NamedThing midbrain neural plate A neural plate that develops_from a presumptive midbrain. tmpxe7fu0cj_hp_relaxed.owl ZFA:0007019|TAO:0007019 uberon owl:Class GO:1902624 biolink:NamedThing positive regulation of neutrophil migration Any process that activates or increases the frequency, rate or extent of neutrophil migration. tmpxe7fu0cj_hp_relaxed.owl up-regulation of neutrophil migration|up regulation of neutrophil migration|activation of neutrophil migration|upregulation of neutrophil migration sl 2014-01-15T18:58:58Z biological_process owl:Class GO:0005886 biolink:NamedThing plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. tmpxe7fu0cj_hp_relaxed.owl cellular membrane|inner endospore membrane|bacterial inner membrane|plasmalemma|cytoplasmic membrane|cell membrane|juxtamembrane|plasma membrane lipid bilayer NIF_Subcellular:sao1663586795|Wikipedia:Cell_membrane GO:0005904 cellular_component owl:Class GO:0071944 biolink:NamedThing cell periphery The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures. tmpxe7fu0cj_hp_relaxed.owl mah 2010-10-04T01:51:47Z cellular_component owl:Class GO:0002088 biolink:NamedThing lens development in camera-type eye The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. tmpxe7fu0cj_hp_relaxed.owl lens development|lens development in camera-style eye biological_process owl:Class UBERON:0019207 biolink:NamedThing chorioretinal region The part of the eye that consists of both the retina and the optic choroid. tmpxe7fu0cj_hp_relaxed.owl chorioretina|choroid and retina|retinachoroidal region|retinachoroid SCTID:110701000 uberon owl:Class UBERON:0000966 biolink:NamedThing retina The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. tmpxe7fu0cj_hp_relaxed.owl Netzhaut|inner layer of eyeball|retina of camera-type eye|retinas|tunica interna of eyeball BAMS:R|GAID:755|BTO:0001175|EHDAA:4757|MA:0000276|MAT:0000142|MBA:304325711|FMA:58301|EMAPA:17168|AAO:0010352|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1862|NCIT:C12343|VHOG:0000229|BIRNLEX:1153|TAO:0000152|Wikipedia:Retina|UMLS:C0035298|NIFSTD_RETIRED:birnlex_1156|UMLS:C1278894|ZFA:0000152|CALOHA:TS-0865|SCTID:181171005|XAO:0000009|EFO:0000832|MESH:D012160|OpenCyc:Mx4rvViTfpwpEbGdrcN5Y29ycA|MIAA:0000142|EHDAA2:0001627|EV:0100348 Currently this class encompasses only verteberate AOs but could in theory also include cephalopod - we may want to make a more specific class for vertebrate retina. note that this class excludes ommatidial retinas, as the retina must be part of an eyeball. Use the parent class photoreceptor array / light-sensitive tissue for arthropods http://upload.wikimedia.org/wikipedia/commons/e/ed/Human_eye_cross-sectional_view_grayscale.png uberon owl:Class The portion of the eye developing from the optic primordium and including the neural retina and the retinal pigment layer. Kimmel et al, 1995.[TAO] The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG] retinal UBERON:0008803 biolink:NamedThing skin of cheek A zone of skin that is part of a cheek. tmpxe7fu0cj_hp_relaxed.owl cheek skin FMA:24759 uberon owl:Class HP:0003149 biolink:NamedThing Hyperuricosuria An abnormally high level of uric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine uric acid level UMLS:C0948643 owl:Class N91a3f10718eb494990e15699c39e3f69 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5e32e521a072434690991654fb375942 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1901731 biolink:NamedThing positive regulation of platelet aggregation Any process that activates or increases the frequency, rate or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules. tmpxe7fu0cj_hp_relaxed.owl activation of thrombocyte aggregation|positive regulation of blood platelet aggregation|upregulation of thrombocyte aggregation|positive regulation of thrombocyte aggregation|up regulation of thrombocyte aggregation|up-regulation of thrombocyte aggregation|up-regulation of platelet aggregation|up regulation of platelet aggregation|upregulation of blood platelet aggregation|activation of platelet aggregation|up-regulation of blood platelet aggregation|up regulation of blood platelet aggregation|upregulation of platelet aggregation|activation of blood platelet aggregation pr 2013-01-10T13:25:39Z biological_process owl:Class CHEBI:66916 biolink:NamedThing alanine zwitterion An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of alanine; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl 2-azaniumylpropanoate|2-ammoniopropanoate 0 C3H7NO2 InChI=1S/C3H7NO2/c1-2(4)3(5)6/h2H,4H2,1H3,(H,5,6) QNAYBMKLOCPYGJ-UHFFFAOYSA-N 89.09320 89.04768 CC([NH3+])C([O-])=O chebi_ontology owl:Class CHEBI:16449 biolink:NamedThing alanine An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2. tmpxe7fu0cj_hp_relaxed.owl alanina|2-aminopropanoic acid|Alanin|2-Aminopropionic acid|A|ALA|alanine|2-Aminopropanoic acid|Alanine 0 C3H7NO2 InChI=1S/C3H7NO2/c1-2(4)3(5)6/h2H,4H2,1H3,(H,5,6) QNAYBMKLOCPYGJ-UHFFFAOYSA-N 89.09322 89.04768 CC(N)C(O)=O CAS:302-72-7|Wikipedia:Alanine|Beilstein:635807|PMID:17439666|Gmelin:2449|Drug_Central:4306|Reaxys:635807|KEGG:C01401|PMID:22264337 CHEBI:22277|CHEBI:2539|CHEBI:13748 chebi_ontology owl:Class HP:0041186 biolink:NamedThing Fractured middle phalanx of pedal digit 3 A partial or complete breakage of the middle phalanx of pedal digit 3. tmpxe7fu0cj_hp_relaxed.owl bone middle phalanx of pedal digit 3 owl:Class N0adbf7f9c2894a87af97c25be6a7227d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010696 biolink:NamedThing skeleton of pedal acropodium The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the pedal autopodium - i.e. the bones of the foot or their cartilaginous precursors[cjm]. tmpxe7fu0cj_hp_relaxed.owl hind acropodium skeleton|set of phalanges of pes|phalanges of pes|pedal phalanges|set of pedal phalanges|all phalanges in hindlimb autopod|foot digit skeleton|posterior acropodium|posterior acropodium skeleton|set of phalanges of foot|phalanges of foot FMA:78512|VSAO:0005030 uberon owl:Class Na065a4af6b97413cb73096a17ac62175 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0070253 biolink:NamedThing somatostatin secretion The regulated release of somatostatin from secretory granules in the D cells of the pancreas. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0000468 biolink:NamedThing Increased adipose tissue around the neck An increased amount of subcutaneous fat tissue around the neck. tmpxe7fu0cj_hp_relaxed.owl Increased fat around the neck UMLS:C4025850 owl:Class Nc2576fdc904649908221ca21a0b8dc94 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0097402 biolink:NamedThing neuroblast migration The orderly movement of a neuroblast from one site to another, often during the development of a multicellular organism or multicellular structure. A neuroblast is any cell that will divide and give rise to a neuron. tmpxe7fu0cj_hp_relaxed.owl pr 2012-10-29T08:24:37Z biological_process owl:Class HP:0100706 biolink:NamedThing Abnormal oligodendroglia morphology One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the oligodendroglia UMLS:C4021992 doelkens 2011-04-03T02:34:15Z owl:Class Na5ec826603774fb2973260065583a942 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:28358 biolink:NamedThing rac-lactic acid A racemate comprising equimolar amounts of (R)- and (S)-lactic acid. tmpxe7fu0cj_hp_relaxed.owl rac-2-hydroxypropanoic acid|alpha-hydroxypropanoic acid|(+-)-2-hydroxypropanoic acid|2-Hydroxypropanoic acid|Lactic acid|alpha-hydroxypropionic acid|E270|2-Hydroxypropionic acid|Milchsaeure 0 C3H6O3 InChI=1S/2C3H6O3/c2*1-2(4)3(5)6/h2*2,4H,1H3,(H,5,6)/t2*2-/m10/s1 KVZLHPXEUGJPAH-QNDGGIRCSA-N 180.156 180.06339 C(=O)([C@@H](O)C)O.C(=O)([C@H](O)C)O DrugBank:DB04398|Wikipedia:Lactic_acid|KEGG:D00111|PMID:17190852|KEGG:C01432|CAS:50-21-5|Beilstein:1209341|LIPID_MAPS_instance:LMFA01050002|PMID:29079364|Reaxys:1209341 CHEBI:6351|CHEBI:24998 chebi_ontology owl:Class CHEBI:50646 biolink:NamedThing bone density conservation agent An agent that inhibits bone resorption and/or favor bone mineralization and bone regeneration. Used to heal bone fractures and to treat bone diseases such as osteopenia and osteoporosis. tmpxe7fu0cj_hp_relaxed.owl anti-osteoporosis agent|anti-osteopenia drug|anti-osteoporotic agents|anti-osteoporosis drug|antiosteoporotics|anti-osteoporotic drugs|anti-osteoporotics|anti-osteopenia agent|anti-osteoporosis drugs|bone density conservation drugs|bone density conservation drug|anti-osteopenia drugs|antiosteoporotic|anti-osteoporotic drug|anti-osteopenia agents|anti-osteoporosis agents|bone density conservation agents|anti-osteoporotic agent|anti-osteoporotic Wikipedia:Osteoporosis CHEBI:72497 chebi_ontology owl:Class UBERON:0007128 biolink:NamedThing glomeral mesenchyme Portion of tissue that consists of the precursors of the pronephric glomus or glomerulus; derived from the medial portion of the pronephric intermediate mesoderm. tmpxe7fu0cj_hp_relaxed.owl corpuscle|glomerulus XAO:0000110 uberon owl:Class HP:0006371 biolink:NamedThing Broad long bone diaphyses Increased width of the diaphysis of long bones. tmpxe7fu0cj_hp_relaxed.owl Wide shaft of long bone|Broad shaft of long bone UMLS:C4025053 human_phenotype owl:Class Nd264c0a8383a42759419816ebafdd166 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N46e78e2909f74ccdbc2606c4a59c34f4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N80e3ae46b1724906920caf0938f4b95a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001645 biolink:NamedThing trigeminal nerve Cranial nerve that has three branches - the ophthalmic (supplying the skin of the nose and upper jaw), the maxillary and the mandibular (supplying the lower jaw). tmpxe7fu0cj_hp_relaxed.owl trigeminal V|cranial nerve V|nerve V|CN-V|trigeminal nerve tree|trigeminus|nervus trigeminus [v]|5n|nervus trigeminus|trigeminal nerve [V]|fifth cranial nerve|trigeminal v nerve Wikipedia:Trigeminal_nerve|BAMS:nV|FMA:50866|ZFA:0000697|EFO:0001402|GAID:726|BM:VN|OpenCyc:Mx4rwMF8CJwpEbGdrcN5Y29ycA|VHOG:0000704|HBA:9322|BTO:0001072|XAO:0003092|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=549|BAMS:5n|MBA:901|NCIT:C12806|UMLS:C0040996|MFMO:0000093|MA:0001100|TAO:0000697|BAMS:Vn|EMAPA:17576|EHDAA2:0002084|MESH:D014276|AAO:0010470|BIRNLEX:869|EHDAA:3738|SCTID:362459002 Gray778:Trigeminal.png uberon owl:Class Nerve consists of motor and sensory components. Ganglion cells of the sensory component form the proximal part of the trigeminal (Gasserian) ganglion. From the ganglion 3 major rami innervate jaws, snout, and buccal roof.[AAO] We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...) (reference 1); Phylogenetically, the cranial nerves are thought to have evolved from dorsal and ventral nerves of a few anterior spinal nerves that became incorporated into the braincase. Dorsal and ventral nerves fuse in the trunk but not in the head, and they produce two series: dorsal cranial nerves (V, VII, IX, and X) and ventral cranial nerves (III, IV, VI, and XIII) (reference 2).[well established][VHOG] the ophthalmic usually usually merges with the other two. In some vertebrates, the ophthalmic emerges from the brain separately[Kardong] The trigeminal nerve has 3 branches in mammals - similar branches are present in nonmammalian vertebrates, but in some a separate profundus nerve that corresponds to opthalmic branch in mammls GO:0098590 biolink:NamedThing plasma membrane region A membrane that is a (regional) part of the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl region of plasma membrane Note that this term should not be used for direct manual annotation as it should always be possible to choose a more specific subclass. dos 2014-03-06T11:55:32Z cellular_component owl:Class GO:0050714 biolink:NamedThing positive regulation of protein secretion Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell. tmpxe7fu0cj_hp_relaxed.owl activation of protein secretion|up regulation of protein secretion|upregulation of protein secretion|stimulation of protein secretion|up-regulation of protein secretion biological_process owl:Class Nf2aeb604d4204f0084f4a9679bca08ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nae9bea1b39324534a6f13dfdf046cdba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005330 biolink:NamedThing mesonephric nephron epithelium The mesonephric nephron epithelium is a tissue that covers the surface of a nephron in the mesonephros[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0031406 biolink:NamedThing Abnormal cytokine signaling Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. tmpxe7fu0cj_hp_relaxed.owl Abnormal cytokine signalling 2017-09-03 15:59:36+00:00 peter owl:Class N9717ca5f6a3841ea8d44fcb010c645b1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nedd1515bee0341c1b8a3360671fa84de biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0070382 biolink:NamedThing exocytic vesicle A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis. tmpxe7fu0cj_hp_relaxed.owl exocytotic vesicle|exocytic constitutive secretory pathway transport vesicle cellular_component owl:Class GO:0099500 biolink:NamedThing vesicle fusion to plasma membrane Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:7500035 biolink:NamedThing tip of tail Outermost point of a tail. tmpxe7fu0cj_hp_relaxed.owl https://orcid.org/0000-0003-2699-3066 uberon owl:Class CHEBI:23357 biolink:NamedThing cofactor An organic molecule or ion (usually a metal ion) that is required by an enzyme for its activity. It may be attached either loosely (coenzyme) or tightly (prosthetic group). tmpxe7fu0cj_hp_relaxed.owl cofactors|cofactor Wikipedia:Cofactor_(biochemistry) chebi_ontology owl:Class GO:0019226 biolink:NamedThing transmission of nerve impulse The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. tmpxe7fu0cj_hp_relaxed.owl signal transmission along a neuron|conduction of nerve impulse biological_process owl:Class HP:0003028 biolink:NamedThing Abnormality of the ankles tmpxe7fu0cj_hp_relaxed.owl Abnormality of the ankles UMLS:C4025660 human_phenotype owl:Class N58b93fa7daeb463284561e76f55ddefb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001908 biolink:NamedThing optic tract Diencephalic white matter (tract) which is comprised of retinal ganglion cell axons after which they have passed through the optic chiasm[ZFA]. Predominantly white matter structure found in diencephalon consisting of fibers originating in the retina. The optic tract is considered to extend from the point of the optic chiasm and terminates largely, although not exclusively, in the lateral geniculate complex. Other fibers end in the superior colliculus and other structures in the diencephalon, midbrain and brainstem (MM)[NIF]. tmpxe7fu0cj_hp_relaxed.owl visual pathway|optic lemniscus|tractus optici|optic tracts|tractus opticus GAID:735|EMAPA:35617|MESH:D014795|TAO:0000252|BIRNLEX:1684|BM:Tel-OT|UMLS:C0152405|VHOG:0001164|NCIT:C33218|MA:0001099|BAMS:opt|ZFA:0000252|EMAPA:16678|MBA:125|FMA:62046|XAO:0004101|HBA:9309|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=460|DMBA:17785|DHBA:10589 http://upload.wikimedia.org/wikipedia/commons/f/f6/Gray773.png relationships need checking by expert. NIF and ZFA both state part of diencepahalon; MA says part of optic nerve II. in uberon, CNS and PNS are spatially disjoint, and axon tracts are part of the CNS so we make the relationship to CNII 'continuous_with' uberon owl:Class UBERON:0003931 biolink:NamedThing diencephalic white matter White matter that is part of a diencephalon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl diencephalic tract/commissure|diencephalic tracts and commissures|predominantly white regional part of diencephalon|white matter of diencephalon FMA:83931|BIRNLEX:1678|ZFA:0000338|TAO:0000338 UBERON:0023148 uberon owl:Class UBERON:0001840 biolink:NamedThing semicircular canal One of three half-circular, interconnected tubes located inside each ear[WP]. tmpxe7fu0cj_hp_relaxed.owl ductus semicirculares|semicircular ducts|canalis semicircularis|scc|semicircular canals GAID:776|MESH:D012665|EMAPA:32832|MA:0000249|AAO:0011098|BTO:0003383|UMLS:C0036622|NCIT:C33527|EV:0100365|VHOG:0001144|FMA:60186|ZFA:0000431|XAO:0000198|TAO:0000431|CALOHA:TS-2164 http://upload.wikimedia.org/wikipedia/commons/3/33/Balance_Disorder_Illustration_A.png uberon owl:Class Fluid-filled toroidal spaces, arranged orthogonally to each other in the ear, that detect angular accelerations. (See Anatomical Atlas entry for semicircular canals by T. Whitfield.)[TAO] In gnathostomes, each membranous labyrinth has three semicircular ducts that connect with a chamber known as the utriculus. These ducts are sometimes called canals, but technically the term semicircular canal applies to the spaces in the osseus labyrinth in which the semicircular ducts lie.[uncertain][VHOG] detects angular acceleration MA divides this into osseous and duct. In FMA, this is systemically part of the bony labyrinth. Note this is an anatomical space in ZFA. The MA treatment has advantages for representing the neuroepithelium, which should not be part of bone. Also check duct vs canal N3a81e57511f242c8b5569238edc3ca5e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0098797 biolink:NamedThing plasma membrane protein complex Any protein complex that is part of the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class UBERON:0000033 biolink:NamedThing head The head is the anterior-most division of the body [GO]. tmpxe7fu0cj_hp_relaxed.owl cephalic area|head (volume)|adult head MA:0000023|UMLS:C0018670|CALOHA:TS-0436|WBbt:0005739|SCTID:302548004|FMA:7154|BTO:0000282|MIAA:0000294|ZFA:0001114|Wikipedia:Head|VHOG:0001644|NCIT:C12419|XAO:0003024|BILA:0000115|TAO:0001114|AEO:0000106|MAT:0000294|AAO:0010335|OpenCyc:Mx4rEOLm4rgPEdmAAAACs6hRjg|EMAPA:31858|TGMA:0000002|EHDAA2:0003106|GAID:61|BIRNLEX:1230|FBbt:00000004|HAO:0000397|galen:Head|MESH:D006257|OpenCyc:Mx4rvVi6YJwpEbGdrcN5Y29ycA|EFO:0000964|SPD:0000016 uberon owl:Class Organism subdivision that is the part of the body consisting of the cranial and pharyngeal regions.[AAO]|Organism subdivision which is the part of the body which consists of the cranial and pharygeal regions.[TAO] Vertebrate evolution has been characterized by a fresh and vast array of cranial structures that collectively form the head.[well established][VHOG] HP:0041172 biolink:NamedThing Fractured fused sacrum A partial or complete breakage of the fused sacrum. tmpxe7fu0cj_hp_relaxed.owl bone fused sacrum owl:Class N9c7dbe6fbbc347628beab4589b62968f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003577 biolink:NamedThing knee connective tissue A portion of connective tissue that is part of a knee [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl connective tissue of knee|knee portion of connective tissue EMAPA:37326|MA:0000667 uberon owl:Class UBERON:0010125 biolink:NamedThing future superior salivatory nucleus A gray matter that has the potential to develop into a superior salivatory nucleus. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004644 uberon owl:Class UBERON:0010408 biolink:NamedThing ocular angle artery The angular artery is the terminal part of the facial artery; it ascends to the medial angle of the eye's orbit, imbedded in the fibers of the angular head of the Quadratus labii superioris, and accompanied by the angular vein. tmpxe7fu0cj_hp_relaxed.owl angular artery FMA:49583|NCIT:C32076|MA:0002010|UMLS:C0226116|EMAPA:37673 uberon owl:Class HP:0040053 biolink:NamedThing Long lower eyelashes tmpxe7fu0cj_hp_relaxed.owl Ciliary trichomegaly of lower eyelashes|Increased length of lower eyelashes|Long lower eyelashes UMLS:C4022465 HPO:skoehler owl:Class N1a1cc5aa234f49ea9798411c258888ab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010546 biolink:NamedThing metapodial skeleton Subdivision of skeleton that corresponds to metapodium region, between acropodial skeleton and mesopdoial skeleton. tmpxe7fu0cj_hp_relaxed.owl metapodial skeleton|metacarpal/metatarsal skeleton|metapodium skeleton|skeletal parts of metapodium|skeleton of metapodium|metapodium VSAO:0005025 uberon owl:Class Endochondral bone complex located between the mesopodium and the acropodium and consisting of the metacarpals or metatarsals.[VSAO] relationship type change: subclass skeletal subdivision (VSAO:0000042) CHANGED TO: distally_connected_to subdivision of skeleton (UBERON:0010912)[VSAO]|relationship type change: subclass skeletal subdivision (VSAO:0000042) CHANGED TO: connected_to subdivision of skeleton (UBERON:0010912)[VSAO] HP:0002673 biolink:NamedThing Coxa valga Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). tmpxe7fu0cj_hp_relaxed.owl Coxa valga deformity UMLS:C3549698|SNOMEDCT_US:299236004|UMLS:C0239137|MSH:D060906 human_phenotype owl:Class N43674d29d75441b9aba6fdf8898bf376 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000558 biolink:NamedThing reticulocyte An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds. tmpxe7fu0cj_hp_relaxed.owl BTO:0001173|CALOHA:TS-0864 cell owl:Class GO:0071971 biolink:NamedThing extracellular exosome assembly The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. tmpxe7fu0cj_hp_relaxed.owl extracellular vesicular exosome assembly mah 2010-10-18T03:44:18Z biological_process owl:Class HP:0010968 biolink:NamedThing Abnormality of liposaccharide metabolism An abnormality of liposaccharide metabolism. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023622 peter 2011-01-27T09:22:56Z human_phenotype owl:Class Ndd3df7f9b2fc4a0282c1cd06b43290b7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0000011 biolink:NamedThing vacuole inheritance The distribution of vacuoles into daughter cells after mitosis or meiosis, mediated by interactions between vacuoles and the cytoskeleton. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Nf5b0c6dfc2b74f6bbc5aa5aa983fc363 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000604 biolink:NamedThing retinal rod cell One of the two photoreceptor cell types of the vertebrate retina. In rods the photopigment is in stacks of membranous disks separate from the outer cell membrane. Rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision. tmpxe7fu0cj_hp_relaxed.owl BTO:0001024|CALOHA:TS-0870|FMA:67747 cell owl:Class CL:0002672 biolink:NamedThing retinal progenitor cell A multi-fate stem cell that can give rise to different retinal cell types including rod and cone cells. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-08-16T02:38:01Z cell owl:Class UBERON:0002286 biolink:NamedThing third ventricle Part of the ventricular system of the brain, forming a single large cavity in the midline of the diencephalon; it is continuous with the lateral ventricles through the interventricular foramen and the fourth ventricle through the cerebral aqueduct. (Maryann Martone). tmpxe7fu0cj_hp_relaxed.owl ventriculus diencephali|ventriculus tertius cerebri|diencephalic vesicle|diencephalic ventricle|3rd ventricle TAO:0000161|MBA:129|BAMS:V3|EV:0100308|GAID:614|HBA:9420|CALOHA:TS-2058|BIRNLEX:714|BAMS:3V|ZFA:0000161|FMA:78454|VHOG:0000007|OpenCyc:Mx4rvakhcJwpEbGdrcN5Y29ycA|NCIT:C12827|EMAPA:16900|DHBA:10602|MA:0000182|BM:Die-3V|UMLS:C0149555|MESH:D020542|EHDAA2:0000084 http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray734.png consider adding class for secondary vesicle precursor uberon owl:Class Fluid-filled brain cavity. Kimmel et al, 1995.[TAO] relationship loss: develops_from forebrain ventricle (TAO:0001259)[TAO] The early development of most vertebrate brains is similar (...). The zebrafish neural tube follows the same basic differentiation pattern as the mammalian neural tube (reference 1); The brain develops from three embryonic enlargements of the neural tube, which later differentiate into five regions. A forebrain differentiates into telencephalon and diencephalon. The midbrain, or mesencephalon, remains undivided. The hindbrain divides into the metencephalon and myelencephalon. Cavities within the brain enlarge to form a series of interconnected ventricles (reference 2).[well established][VHOG] GO:1905564 biolink:NamedThing positive regulation of vascular endothelial cell proliferation Any process that activates or increases the frequency, rate or extent of vascular endothelial cell proliferation. tmpxe7fu0cj_hp_relaxed.owl up regulation of vascular endothelial cell proliferation|upregulation of vascular endothelial cell proliferation|activation of vascular endothelial cell proliferation|up-regulation of vascular endothelial cell proliferation nc 2016-10-17T09:24:35Z biological_process owl:Class GO:0101023 biolink:NamedThing vascular endothelial cell proliferation The multiplication or reproduction of blood vessel endothelial cells, resulting in the expansion of a cell population. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:15801 biolink:NamedThing (R)-2-hydroxyglutarate(2-) A 2-hydroxyglutarate(2-) that has (2R)-configuration. tmpxe7fu0cj_hp_relaxed.owl (R)-2-hydroxyglutarate|(2R)-2-hydroxypentanedioate -2 C5H6O5 InChI=1S/C5H8O5/c6-3(5(9)10)1-2-4(7)8/h3,6H,1-2H2,(H,7,8)(H,9,10)/p-2/t3-/m1/s1 HWXBTNAVRSUOJR-GSVOUGTGSA-L 146.09814 146.02262 O[C@H](CCC([O-])=O)C([O-])=O MetaCyc:R-2-HYDROXYGLUTARATE|KEGG:C01087 CHEBI:10974|CHEBI:18650 chebi_ontology owl:Class CHEBI:78017 biolink:NamedThing food propellant A propellant that is used to expel foods from an aerosol container. tmpxe7fu0cj_hp_relaxed.owl food propellants chebi_ontology owl:Class HP:0040031 biolink:NamedThing Chorioretinal hyperpigmentation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022482 HPO:skoehler owl:Class N982e8e4ca74e4953892ca0ae517568a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0005930 biolink:NamedThing axoneme The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. tmpxe7fu0cj_hp_relaxed.owl cilium axoneme|flagellar axoneme|flagellum axoneme|ciliary axoneme Wikipedia:Axoneme Note that cilia and eukaryotic flagella are deemed to be equivalent. In diplomonad species, such as Giardia, the axoneme may extend intracellularly up to 5um away from the plane of the plasma membrane. GO:0035086|GO:0035085 cellular_component owl:Class UBERON:0001295 biolink:NamedThing endometrium The glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy. tmpxe7fu0cj_hp_relaxed.owl tunica mucosa uteri|uterine endometrium|uterine mucous membrane|uterine mucosa|tunica mucosa (endometrium) MESH:D004717|CALOHA:TS-0276|FMA:17742|EFO:0000980|UMLS:C0014180|VHOG:0001285|EMAPA:29917|MAT:0000319|GAID:377|EV:0100115|MIAA:0000319|NCIT:C12313|MA:0000390|BTO:0001422 Illu:cervix.jpg uberon owl:Class The mucous membrane lining the uterus. [TFD][VHOG] The maternal part of the placenta (of eutherian mammals) is the vascularized and glandular uterine lining, or endometrium.[well established][VHOG] endometrial Animals that have estrous cycles reabsorb the endometrium if conception does not occur during that cycle. Animals that have menstrual cycles shed the endometrium through menstruation instead in FMA this is subdivided into basal and outer HP:0000817 biolink:NamedThing Poor eye contact Difficulty in looking at another person in the eye. tmpxe7fu0cj_hp_relaxed.owl Poor eye contact UMLS:C1445953|SNOMEDCT_US:412786000 Eye contact, defined as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication. owl:Class Nd4bdb74cbeb745eda94a85f0a0f4017d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010409 biolink:NamedThing ocular surface region The integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms. tmpxe7fu0cj_hp_relaxed.owl eye surface region|eye surface|ocular surface EMAPA:35336|MA:0002486 uberon owl:Class CHEBI:57966 biolink:NamedThing beta-alanine zwitterion Zwitterionic form of beta-alanine arising from transfer of a proton from the carboxy to the amino group; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl 3-ammoniopropanoate|3-azaniumylpropanoate|beta-alanine 0 C3H7NO2 InChI=1S/C3H7NO2/c4-2-1-3(5)6/h1-2,4H2,(H,5,6) UCMIRNVEIXFBKS-UHFFFAOYSA-N 89.09320 89.04768 [NH3+]CCC([O-])=O Gmelin:454332 chebi_ontology owl:Class CHEBI:16958 biolink:NamedThing beta-alanine A naturally-occurring beta-amino acid comprising propionic acid with the amino group in the 3-position. tmpxe7fu0cj_hp_relaxed.owl 3-aminopropanoic acid|beta-alanine|beta-aminopropionic acid|BETA-ALANINE|3-Aminopropionic acid|omega-aminopropionic acid|bAla|beta-Alanine|H-beta-Ala-OH 0 C3H7NO2 InChI=1S/C3H7NO2/c4-2-1-3(5)6/h1-2,4H2,(H,5,6) UCMIRNVEIXFBKS-UHFFFAOYSA-N 89.09322 89.04768 NCCC(O)=O KEGG:C00099|PMID:19239140|PMID:20386120|PMID:11850512|PMID:22735334|PDBeChem:BAL|PMID:18528519|PMID:20994958|Gmelin:49614|KEGG:D07561|Reaxys:906793|Beilstein:906793|PMID:18613640|PMID:16934791|HMDB:HMDB0000056|DrugBank:DB03107|Wikipedia:Beta-Alanine|PMID:11139233|PMID:12107759|PMID:20479615|PMID:20199122|PMID:12887142|PMID:14363188|CAS:107-95-9|KNApSAcK:C00001333|PMID:19955842|MetaCyc:B-ALANINE CHEBI:12389|CHEBI:10343|CHEBI:41050|CHEBI:22821 chebi_ontology owl:Class HP:0009918 biolink:NamedThing Ectopia pupillae A malposition of the pupil owing to a developmental defect of the iris. tmpxe7fu0cj_hp_relaxed.owl Displaced pupil|Corectopia SNOMEDCT_US:392461003|SNOMEDCT_US:193523008|UMLS:C1271219|MSH:C536185 peter 2009-05-02T06:01:01Z human_phenotype owl:Class N7acab0052ab74a5495b13007ad407826 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9c91ba2a82bb44d4bf7492faf43fc564 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0022302 biolink:NamedThing short ciliary nerve A branch of the ciliary ganglion that innervates the ciliary muscles, the iris, and the tunics of the eyeball. tmpxe7fu0cj_hp_relaxed.owl lower branch of ciliary ganglion|short ciliary nerve|nervi ciliares breves|nervi ciliares brevis FMA:7041 uberon owl:Class Contains preganglionic parasympathetic axons. N8a0ae7e0c2ef4136acf43bf8e58b99be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001757 biolink:NamedThing pinna The part of the ear that projects from the head, connecting to the external acoustic meatus. tmpxe7fu0cj_hp_relaxed.owl auricle of external ear|auricula|pinna of ear|auricle of ear|auricle|pinnae|auricula (auris externa) EHDAA2:0001467|NCIT:C32165|MA:0000259|UMLS:C0928075|galen:Auricle|EMAPA:17589|EV:0100355|FMA:56580|OpenCyc:Mx4rvs_VC5wpEbGdrcN5Y29ycA|VHOG:0000460 uberon owl:Class The external expanded part of the ear characterized by a funnel-shaped structure through which the sound vibrations are received. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] Mammals have a third type of tympanic ear. An external flap, the auricle or pinna, helps funnel sound waves down the external acoustic meatus to the tympanic membrane.[well established][VHOG] In various species, the pinna can also signal mood and radiate heat The purpose of the pinna is to collect sound. It does so by acting as a funnel, amplifying the sound and directing it to the ear canal. While reflecting from the pinna, sound also goes through a filtering process which adds directional information to the sound (see sound localization, head-related transfer function, pinna notch). CHEBI:132941 biolink:NamedThing 2-hydroxyglutarate A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of 2-hydroxyglutaric acid. tmpxe7fu0cj_hp_relaxed.owl 2-hydroxyglutaric acid anion|2-hydroxyglutarate anion chebi_ontology owl:Class UBERON:0009002 biolink:NamedThing placental membrane The membrane separating the fetal from the maternal blood in the placenta. tmpxe7fu0cj_hp_relaxed.owl placental barrier NCIT:C34253|BTO:0004196|UMLS:C0230984 uberon owl:Class UBERON:0018247 biolink:NamedThing cervical thymic artery An artery that supplies a cervical thymus. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0009114 biolink:NamedThing cervical thymus A mature thymus that is entirely part of the cervical region. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class A cervical thymus is a pathological structure in a human - it can form during the migration of the thymus to its location in the mediastinum. Some mice have a cervical thymus. There are examples of cervical thymi in marsupials and prosimians[ISBN:0781714125] GO:0060956 biolink:NamedThing endocardial cell differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of an endocardial cell. An endocardial cell is a specialized endothelial cell that makes up the endocardium portion of the heart. The endocardium is the innermost layer of tissue of the heart, and lines the heart chambers. tmpxe7fu0cj_hp_relaxed.owl dph 2009-09-29T03:20:39Z biological_process owl:Class CL:0002350 biolink:NamedThing endocardial cell An endothelial cell that lines the intracavitary lumen of the heart, separating the circulating blood from the underlying myocardium. This cell type releases a number of vasoactive substances including prostacyclin, nitrous oxide and endothelin. tmpxe7fu0cj_hp_relaxed.owl endocardial endothelial cell|endothelial cell of endocardium FMA:75621 tmeehan 2010-09-21T04:33:05Z CL:1000475 cell owl:Class HP:0010399 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023855 doelkens 2009-07-16T11:58:15Z human_phenotype owl:Class Nb3708abafdc04bc2be1ced1c980eb981 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:1000493 biolink:NamedThing mesothelial cell of visceral pleura A mesothelial cell that is part of the visceral pleura. tmpxe7fu0cj_hp_relaxed.owl FMA:86739 cell owl:Class GO:0010256 biolink:NamedThing endomembrane system organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endomembrane system. tmpxe7fu0cj_hp_relaxed.owl endomembrane organization|endomembrane system organisation biological_process owl:Class GO:0012505 biolink:NamedThing endomembrane system A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Endomembrane_system cellular_component owl:Class N1fb74a42cbc64148a1737df020452986 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb426c7eada144722b87f58eafc97706c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006347 biolink:NamedThing communicating artery An artery that connects two larger arteries. tmpxe7fu0cj_hp_relaxed.owl MA:0001938|UMLS:C1707451|NCIT:C52851|EMAPA:18598 Grouping for anterior and posterior uberon owl:Class UBERON:0010025 biolink:NamedThing dorsal part of pharyngeal pouch 3 tmpxe7fu0cj_hp_relaxed.owl dorsal branchial pouch 3 endoderm|dorsal pharyngeal pouch 3 endoderm|dorsal wing of pharyngeal pouch 3|dorsal 3rd branchial pouch|cranial dorsal aspect of third dorsal pharyngeal pouch|dorsal 3rd arch pharyngeal pouch endoderm|dorsal pharyngeal pouch 3 EHDAA2:0000409|EMAPA:16758 uberon owl:Class Derivatives of the dorsal wings include the inferior parathyroid glands[WP] in mammals, the cranial dorsal aspect of the third pouch generates the inferior parathyroids (or parathyroid III) UBERON:0003023 biolink:NamedThing pontine tegmentum Dorsal portion of the pons, containing cranial nervee nuclei, ascending and descending tracts and reticular nuclei. It is continuous with the reticular formation of the medulla (Carpenter, A Core Text of Neuroanatomy, 3rd ed, 1985, pg 133). tmpxe7fu0cj_hp_relaxed.owl pars dorsalis pontis|tegmentum of pons|tegmentum pontis|dorsal portion of pons|pars posterior pontis|tegmental portion of pons|dorsal pons BIRNLEX:923|Wikipedia:Pontine_tegmentum|DHBA:12416|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=557|BAMS:PTg|UMLS:C0228426|FMA:71108|HBA:9135|SCTID:362401009 Brainstem:Abducens.png uberon owl:Class involved in the initiation of REM sleep [Wikipedia:Pontine_tegmentum] UBERON:0002148 biolink:NamedThing locus ceruleus The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic[GO]. Bluish region in the superior angle of the fourth ventricle floor, corresponding to melanin-like pigmented nerve cells which lie lateral to the ponto-mesencephalic central gray (griseum centrale). It is also known as nucleus pigmentosus pontis[GAID]. tmpxe7fu0cj_hp_relaxed.owl locus coeruleus (Vicq d'Azyr)|substantia ferruginea|caerulean nucleus|nucleus loci caerulei|locus cinereus|locus coeruleu|nucleus caeruleus|nucleus of locus caeruleus|loci coeruleus|locus caeruleus|nucleus pigmentosus pontis|locus coeruleus|blue nucleus BM:Pons-LC|HBA:9148|DMBA:16972|Wikipedia:Locus_ceruleus|DHBA:12819|TAO:0000539|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=583|MA:0001017|BAMS:LC|FMA:72478|EMAPA:35502|ZFA:0000539|EFO:0001963|MESH:D008125|BIRNLEX:905|BAMS:CAE|UMLS:C0023951|NCIT:C97333|MBA:147|SCTID:369016004|GAID:577|BTO:0001408 http://upload.wikimedia.org/wikipedia/commons/7/77/Gray709.png TODO - check ZFA/pons. also GO says part of dorsorostral pons uberon owl:Class UBERON:0003901 biolink:NamedThing horizontal septum A logitudinal sheet of continuous connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses; each is destined to become, respectively, the epaxial and hyopaxial musculature. tmpxe7fu0cj_hp_relaxed.owl horizontal septum of vertebra|horizontal myoseptum ZFA:0000671|TAO:0000671|EFO:0003555 uberon owl:Class A connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses. Kimmel et al, 1995.[TAO] relationship loss: subclass myoseptum (TAO:0001089)[TAO] UBERON:0003895 biolink:NamedThing hypaxial myotome region Portion of myotome that is ventral to the horizontal septum. tmpxe7fu0cj_hp_relaxed.owl hypaxial myotome region|body wall muscle TAO:0001085|ZFA:0001085 uberon owl:Class HP:0010437 biolink:NamedThing Short proximal phalanx of the 2nd toe Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia. tmpxe7fu0cj_hp_relaxed.owl Short proximal phalanx of the second toe|Hypoplastic/small proximal phalanx of the 2nd toe|Short innermost 2nd toe bone UMLS:C4021265 doelkens 2009-07-16T04:29:25Z owl:Class N486cddb819c54960a5ecf4065fbb46eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004779 biolink:NamedThing respiratory system lamina propria A lamina propria that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl respiratory system lamina propria mucosa|lamina propria of respiratory system|lamina propria of apparatus respiratorius|lamina propria mucosa of apparatus respiratorius|apparatus respiratorius lamina propria|lamina propria mucosa of respiratory system|apparatus respiratorius lamina propria mucosa MA:0001821|EMAPA:37576 uberon owl:Class GO:0140014 biolink:NamedThing mitotic nuclear division A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell. tmpxe7fu0cj_hp_relaxed.owl mitosis https://github.com/geneontology/go-ontology/issues/19910 pg 2017-03-23T14:44:23Z biological_process owl:Class UBERON:0003077 biolink:NamedThing paraxial mesoderm The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]. tmpxe7fu0cj_hp_relaxed.owl somitic mesoderm|mesoderma paraxiale|paraxial mesenchyme EFO:0003515|XAO:0000259|ZFA:0000255|EMAPA:16751|AAO:0010568|VHOG:0000114|FMA:293145|SCTID:361475002|Wikipedia:Paraxial_mesoderm|NCIT:C34244|EMAPA:16183|UMLS:C1284009|TAO:0000255 http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png uberon owl:Class Mesoderm lateral to the neural tube and notochord that is divided into cranial and post-cranial portions. The trunk portions further segment into somites.[AAO] Presently, Cephalochordata, Urochordata, and Vertebrata are placed as subphyla of the phylum Chordata, in which the overall organization of embryonic tissues (dorsal hollow nerve cord, ventral digestive tract, axial notochord, and bilateral paraxial mesoderm) is largely conserved. In contrast, the echinoderms and hemichordates are sister groups of the chordates and they lack the notochord and paraxial mesoderm. Thus, the basic mesodermal organization of vertebrates must have appeared first in the common ancestor of the chordates.[well established][VHOG] note that all AOs differ in the relationship between this structure and the mesoderm; in ZFA it is a subclass (and this is implied by the GO definition and GO relationships), in AAO it is part of, and in EHDAA2 it develops from the mesoderm (but in EHDAA2 the naming convention is to use 'paraxial mesenchyme', rather than 'paraxial mesoderm'). Also in ZFA it is part of the trunk whereas this conflicts with the division into head and trunk in ehdaa2 (which we follow here) HP:0011035 biolink:NamedThing Abnormal renal cortex morphology An abnormality of the cortex of the kidney. tmpxe7fu0cj_hp_relaxed.owl Abnormality of renal cortex morphology UMLS:C4023580 peter 2011-03-06T11:31:39Z human_phenotype owl:Class N9f10a7162fe3416aaa81506ec6c6e23a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:50266 biolink:NamedThing prodrug A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug. tmpxe7fu0cj_hp_relaxed.owl Prodrugs PMID:28070577|PMID:28215138|PMID:24709544|PMID:28329729|PMID:24628402|PMID:25269430|PMID:28219047|PMID:28334528|PMID:25157234|Wikipedia:Prodrug|PMID:26028253|PMID:25591121|PMID:24329110|PMID:28319647|PMID:25795057|PMID:26184144|PMID:23998799|PMID:25144792|PMID:25620096|PMID:23993918|PMID:28259775|PMID:25391982 chebi_ontology owl:Class GO:0061512 biolink:NamedThing protein localization to cilium A process in which a protein is transported to, or maintained in, a location within a cilium. tmpxe7fu0cj_hp_relaxed.owl dph 2013-03-22T15:41:44Z biological_process owl:Class N50c21c8414794b2a9fe09380d8e8e389 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N40ad45c132ac42e9bd0ceb46ce11a40f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003635 biolink:NamedThing pedal digit 5 5th digit of the hind autopod. tmpxe7fu0cj_hp_relaxed.owl toe 5|hind digit V|hind digit 5|digitus quintus of pes|digitus minimus; digitus quintus [v]|little toe|digitus minimus pedis|fifth digit of foot|hind limb digit 5|foot digit 5|digitus quintus (V) pedis|digitus quintus [V]|pedal digit V|fifth toe|digit 5 of hind-paw|digitus quintus pedis|pedal digitus minimus|digitus quintus [V] pedis|digitus V of pes|5th toe|pes digit V EHDAA2:0002057|BTO:0002353|NCIT:C52843|EMAPA:17472|MA:0000469|FMA:25053|AAO:0010658|UMLS:C1708087 http://upload.wikimedia.org/wikipedia/commons/5/52/Gray291.png uberon owl:Class UBERON:0003692 biolink:NamedThing acromioclavicular joint Any joint connecting the acromonion of the scapula and clavicle. tmpxe7fu0cj_hp_relaxed.owl acromioclavicular articulation|articulatio acromioclavicularis|scapuloclavicular articulation FMA:25898|GAID:249|OpenCyc:Mx4rwHhmSJwpEbGdrcN5Y29ycA|NCIT:C32047|MESH:D000173|UMLS:C0001208 http://upload.wikimedia.org/wikipedia/commons/3/3b/Gray326.png uberon owl:Class The gliding joint formed by the outer extremity of the clavicle and the inner margin of the acromion process of the scapula. GO:0030030 biolink:NamedThing cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. tmpxe7fu0cj_hp_relaxed.owl cell surface structure organization and biogenesis|cell projection organization and biogenesis|cell projection organisation biological_process owl:Class GO:0042995 biolink:NamedThing cell projection A prolongation or process extending from a cell, e.g. a flagellum or axon. tmpxe7fu0cj_hp_relaxed.owl cellular projection|cellular process|cell process cellular_component owl:Class HP:0001821 biolink:NamedThing Broad nail Increased width of nail. tmpxe7fu0cj_hp_relaxed.owl Broad nail|Broad fingernails|Wide fingernails UMLS:C1843112 HP:0008406 human_phenotype owl:Class N85ec2b4eb11d49ae8d7b4afbf963752a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf4de3163e5724b258054db507ad8740d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006801 biolink:NamedThing proximal head of humerus Hemispherical structure on proximal epiphysis of humerus that articulates with glenoid cavity[WP,modified]. tmpxe7fu0cj_hp_relaxed.owl head of humerus|humeral head|caput humeri AAO:0000835|NCIT:C32720|galen:HeadOfHumerus|EMAPA:25050|FMA:13304|UMLS:C0223683 UBERON:3000835 uberon owl:Class Hemispherical ball on the proximal end of the humerus that fits into the glenoid cavity of the pectoral girdle to form the shoulder joint[AAO]. UBERON:0002391 biolink:NamedThing lymph Lymph is the fluid that is formed when interstitial fluid enters the conduits of the lymphatic system through lymph capillaries[WP]. tmpxe7fu0cj_hp_relaxed.owl lympha MIAA:0000055|ENVO:02000041|MAT:0000055|EV:0100049|VHOG:0001590|galen:Lymph|ZFA:0005658|GAID:1186|FMA:9671|EFO:0000871|MESH:A12.207.630|BTO:0000855|UMLS:C0024202|CALOHA:TS-0580|MA:0002520|OpenCyc:Mx4rvpDOU5wpEbGdrcN5Y29ycA|NCIT:C13252 http://upload.wikimedia.org/wikipedia/commons/1/19/Illu_lymph_capillary.png uberon owl:Class UBERON:0003660 biolink:NamedThing eyelid muscle A muscle that attaches to an eyelid. tmpxe7fu0cj_hp_relaxed.owl muscle organ of blepharon|blepharon muscle organ|eyelid muscle organ|muscle organ of eyelid MA:0000269|UMLS:C1707990|NCIT:C52803 uberon owl:Class The muscle in the orbit of the eye that lifts the upper eyelid[ncithesaurus:Eyelid_Muscle]. UBERON:0002135 biolink:NamedThing mitral valve An atrioventricular valve that is part of the outflow part of the left atrium. tmpxe7fu0cj_hp_relaxed.owl bicuspid valve|valva mitralis|valva atrioventricularis sinistra|left atrioventricular valve EMAPA:17871|OpenCyc:Mx4rv4l2nJwpEbGdrcN5Y29ycA|GAID:565|galen:MitralValve|MESH:D008943|MA:0000088|FMA:7235|NCIT:C12753|VHOG:0000817|UMLS:C0026264|EHDAA2:0000168|EFO:0003933 http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg uberon owl:Class A valve of the heart, composed of two triangular flaps, that is located between the left atrium and left ventricle and regulates blood flow between these chambers. [TFD][VHOG] The mature AV (atrioventricular) valve of the adult zebrafish 2-chambered heart is structurally similar to the mammalian AV valves with stratified ECM (extracellular matrix) and supporting chordae tendineae. Therefore, the major cellular and molecular events of valve development are largely conserved among animals with hearts composed of multiple chambers.[well established][VHOG] FMA part_ofs changed to connects CHEBI:15903 biolink:NamedThing beta-D-glucose D-Glucopyranose with beta configuration at the anomeric centre. tmpxe7fu0cj_hp_relaxed.owl BETA-D-GLUCOSE|beta-D-glucopyranose|beta-D-Glucose|WURCS=2.0/1,1,0/[a2122h-1b_1-5]/1/|beta-D-glucose 0 C6H12O6 InChI=1S/C6H12O6/c7-1-2-3(8)4(9)5(10)6(11)12-2/h2-11H,1H2/t2-,3-,4+,5-,6-/m1/s1 WQZGKKKJIJFFOK-VFUOTHLCSA-N 180.15588 180.06339 OC[C@H]1O[C@@H](O)[C@H](O)[C@@H](O)[C@@H]1O Reaxys:1281607|KEGG:C00221|PMID:19443021|GlyGen:G71142DF|PMID:31537530|CAS:492-61-5|PMID:25568069|Gmelin:648637|DrugBank:DB02379|Drug_Central:845|PDBeChem:BGC|Beilstein:1281607|GlyTouCan:G71142DF CHEBI:10397|CHEBI:22795|CHEBI:41140|CHEBI:12373 chebi_ontology owl:Class CHEBI:37631 biolink:NamedThing beta-L-glucose A L-glucopyranose with a beta-configuration at the anomeric position. tmpxe7fu0cj_hp_relaxed.owl WURCS=2.0/1,1,0/[a1211h-1b_1-5]/1/|beta-L-glucopyranose 0 C6H12O6 InChI=1S/C6H12O6/c7-1-2-3(8)4(9)5(10)6(11)12-2/h2-11H,1H2/t2-,3-,4+,5-,6-/m0/s1 WQZGKKKJIJFFOK-QYESYBIKSA-N 180.15588 180.06339 OC[C@@H]1O[C@H](O)[C@@H](O)[C@H](O)[C@H]1O Reaxys:1907373|GlyTouCan:G59396XU|GlyGen:G59396XU|Beilstein:1907373 chebi_ontology owl:Class UBERON:0013279 biolink:NamedThing diaphysis of fibula A diaphysis that is part of a fibula[Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl fibula diaphysis|body of fibula|shaft of fibula|corpus fibulae EMAPA:37892|FMA:33738 uberon owl:Class The body of fibula presents four borders - the antero-lateral, the antero-medial, the postero-lateral, and the postero-medial; and four surfaces - anterior, posterior, medial, and lateral[Wikipedia:Body_of_fibula]. UBERON:8410035 biolink:NamedThing medullary arteriole of lymph node An arteriole that arises from the hilar artery of a lymph node and radiates centrifugally, branching in the medulla. tmpxe7fu0cj_hp_relaxed.owl arteriole of medulla of lymph node http://orcid.org/0000-0002-2825-0621 uberon owl:Class UBERON:0018299 biolink:NamedThing mandibular symphyseal tooth Tooth of the lower jaw that is adjacent to the mandibular symphysis. tmpxe7fu0cj_hp_relaxed.owl lower jaw symphyseal tooth|symphyseal tooth UBERONTEMP:2f99ad4b-d842-4ae9-8886-87ee98811fe5 uberon owl:Class UBERON:0006606 biolink:NamedThing mandibular symphysis A cartilaginous joint that connects left and right mandibles/dentary bones. Mandibular symphysis is unpaired[TAO,modified]. tmpxe7fu0cj_hp_relaxed.owl dentary symphysis|mental symphysis|symphysis mandibulae|symphysis menti|inter-mandibular joint|inter-dentary joint ZFA:0005488|FMA:75779|Wikipedia:Symphysis_menti|MA:0001490|AAO:0000277|TAO:0001851 http://upload.wikimedia.org/wikipedia/commons/6/64/Gray176.png this is placed as part of lower jaw region, as in this ontology the skeleton does not include joints uberon owl:Class Joint that articulates the left and right dentary bones. Mandibular symphysis is unpaired.[TAO] in snakes, the mandibular symphysis is composed of soft tissues, allowing independent movement of each mandible GO:0048844 biolink:NamedThing artery morphogenesis The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs. tmpxe7fu0cj_hp_relaxed.owl arterial morphogenesis|arteriogenesis biological_process owl:Class GO:0060840 biolink:NamedThing artery development The progression of the artery over time, from its initial formation to the mature structure. An artery is a blood vessel that carries blood away from the heart to a capillary bed. tmpxe7fu0cj_hp_relaxed.owl dph 2009-08-12T10:10:51Z biological_process owl:Class N3d7c6223e4df448097fc3002511f0a9a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N87524cdb02b14e5b944fa3abb4f892cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008476 biolink:NamedThing Irregular sclerotic endplates tmpxe7fu0cj_hp_relaxed.owl irregular, dense end plate UMLS:C1868554 HP:0004624 human_phenotype owl:Class Ne91c1f9e260b41369509f476ba71fe24 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003898 biolink:NamedThing skeletal muscle tissue of trunk A portion of skeletal muscle tissue in the trunk. tmpxe7fu0cj_hp_relaxed.owl torso skeletal muscle|skeletal muscle tissue of trunk|skeletal muscle tissue of torso|trunk skeletal muscle tissue|torso skeletal muscle tissue|trunk skeletal muscle|skeletal muscle of torso SCTID:244848007 uberon owl:Class UBERON:0004641 biolink:NamedThing spleen capsule The connective tissue that surrounds the spleen. tmpxe7fu0cj_hp_relaxed.owl capsula splenica|capsule of spleen|tunica fibrosa (splen)(lien)|fibroelastic coat of spleen|fibrous capsule of spleen|splenic capsule|Malpighian capsule|tunica fibrosa splenica FMA:15849|UMLS:C0229681|NCIT:C33598|EMAPA:35802|MA:0000753 uberon owl:Class UBERON:0002106 biolink:NamedThing spleen The organ that functions to filter blood and to store red corpuscles and platelets. tmpxe7fu0cj_hp_relaxed.owl lien TAO:0000436|ZFA:0000436|MESH:A15.382.520.604.713|BTO:0001281|OpenCyc:Mx4rvVjgw5wpEbGdrcN5Y29ycA|NCIT:C12432|UMLS:C0037993|EMAPA:18767|XAO:0000328|FMA:7196|AAO:0010395|MA:0000141|MIAA:0000085|CALOHA:TS-0956|MAT:0000085|GAID:1289|EFO:0000869|galen:Spleen|EV:0100055|VHOG:0000120 Illu:spleen.jpg uberon owl:Class An organ involved in red blood cell filtration and immune response.[AAO] With the advent of clonal selection, the accumulation and segregation of T and B cells in specialized organs for antigen presentation became necessary, and indeed the spleen is found in all jawed vertebrates, but not in agnathans or invertebrates.[well established][VHOG] splenic|lienal In humans, it is located in the left upper quadrant of the abdomen. It removes old red blood cells and holds a reserve in case of hemorrhagic shock, especially in animals like horses (not in humans), while recycling iron|Neither hagfish nor lampreys possess what might be considered a discrete and condensed spleen. Hagfish possess dispersed lymphoid tissue within the submucosa of the intestine (96) associated with the portal vein (97), whereas lymphoid tissue is associated with the typhlosole portion of the intestine in lampreys (96) It synthesizes antibodies in its white pulp and removes, from blood and lymph node circulation, antibody-coated bacteria along with antibody-coated blood cells HP:0500190 biolink:NamedThing Decreased CSF leucine concentration Abnormally decreased levels of leucine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Low leucine levels in cerebrospinal fluid 2019-02-25 15:52:49+00:00 owl:Class Nf0e7647dd841488da57b910affd2ff2a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000657 biolink:NamedThing secondary spermatocyte One of the two haploid cells into which a primary spermatocyte divides, and which in turn gives origin to spermatids. tmpxe7fu0cj_hp_relaxed.owl FMA:72293|CALOHA:TS-2195|FBbt:00004941|BTO:0000709 cell owl:Class CL:0000656 biolink:NamedThing primary spermatocyte A diploid cell that has derived from a spermatogonium and can subsequently begin meiosis and divide into two haploid secondary spermatocytes. tmpxe7fu0cj_hp_relaxed.owl BTO:0001115|CALOHA:TS-2194|FMA:72292 cell owl:Class UBERON:0001084 biolink:NamedThing skin of head A zone of skin that is part of a head [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl zone of skin of head|zone of skin of adult head|head zone of skin|head skin|adult head zone of skin FMA:12166|NCIT:C52757|MA:0000582|FMA:24756|UMLS:C0205029|SCTID:181484006 TODO - distinguish between entire skin of region and arbitrary zone of skin on region uberon owl:Class CL:0002436 biolink:NamedThing mature CD4 single-positive thymocyte A mature CD4-positive, CD8-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor. tmpxe7fu0cj_hp_relaxed.owl T.4SP24-.Th tmeehan 2010-10-21T03:31:19Z cell owl:Class UBERON:0005281 biolink:NamedThing ventricular system of central nervous system A set of structures containing cerebrospinal fluid in the brain. It is continuous with the central canal of the spinal cord[WP]. tmpxe7fu0cj_hp_relaxed.owl ventricular system|CNS ventricular system|ventricle system|ventriculi cerebri|ventricular system of neuraxis FMA:242675|EHDAA2:0004362|MBA:73|TAO:0001261|EV:0100306|ZFA:0001261|EFO:0003650 http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray734.png TODO - resolve space vs structure conflation. We follow FMA in making this and the various ventricles a structure - it follows from this that strutures such as the tela choroidea and choroid plexuses can be part of the ventricles and ventricular system. Note: see also the class 'neuraxis cavity' uberon owl:Class Nbbba3f30f7ff4ee0aaca19ac17786d54 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001895 biolink:NamedThing metencephalon Rostral segment of the hindbrain that has as its parts the pons (where present) and the cerebellum[WP,modified]. tmpxe7fu0cj_hp_relaxed.owl epencephalon|epencephalon-2 EHDAA2:0001149|EHDAA:5498|UMLS:C1516904|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=543|BAMS:Met|NCIT:C32741|DHBA:10655|UMLS:C0376353|MESH:D020540|CALOHA:TS-2029|BTO:0000673|HBA:4833|FMA:62003|BIRNLEX:965|GAID:594|VHOG:0000741|MA:0000197|EMAPA:17071|Wikipedia:Metencephalon the terms metencephalon and myelencephalon are only meaningful in mammals and birds[Neuroanatomy of the Zebrafish Brain]. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata and thus these are not distinguished in ZFA[ZFA]. http://upload.wikimedia.org/wikipedia/commons/5/54/EmbryonicBrain.svg uberon owl:Class The anterior of two brain vesicles formed by specialization of the rhombencephalon in the developing embryo. It gives rise to cerebellum and pons. [TFD][VHOG]|Anterior part of the hindbrain ventral to the cerebellum[BIRNLEX:965]. The early development of most vertebrate brains is similar (...). The zebrafish neural tube follows the same basic differentiation pattern as the mammalian neural tube (reference 1); The brain develops from three embryonic enlargements of the neural tube, which later differentiate into five regions. A forebrain differentiates into telencephalon and diencephalon. The midbrain, or mesencephalon, remains undivided. The hindbrain divides into the metencephalon and myelencephalon. Cavities within the brain enlarge to form a series of interconnected ventricles (reference 2).[well established][VHOG] UBERON:0005454 biolink:NamedThing abdominal internal oblique muscle The lateral abdominal wall muscle that is deep to the external oblique and superficial to the transversus. tmpxe7fu0cj_hp_relaxed.owl abdominal internal oblique|obliquus internus abdominis|obliquus internus|internal abdominal oblique|internal oblique|obliquus internus abdominis muscle|abdominal internal oblique muscle|internal oblique abdominis muscle|internal oblique abdominal|internal oblique muscle|obliqui internus|internal oblique abdominis|musculus obliquus internus abdominis|internal abdominal oblique muscle NCIT:C32857|EMAPA:18163|VHOG:0000789|FMA:13891|EHDAA2:0000879|EHDAA:8250|MA:0002346|UMLS:C1512878 http://upload.wikimedia.org/wikipedia/commons/3/32/Illu_trunk_muscles.jpg uberon owl:Class Behind the thorax, the lateral group (of muscles in reptiles and mammals) remains essentially as for amphibians. (It breaks into three sheet-like layers: external oblique muscle, the internal oblique, and the transversus). More anteriorly, however, the ribs, now enlarged, penetrate and alter this group of muscles. The transversus is excluded from the thorax and the external and internal obliques become, respectively, the external and internal intercostal muscles, which contribute to the new function of ventilation of the lungs.[well established][VHOG] UBERON:0006635 biolink:NamedThing anterior abdominal wall The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus). tmpxe7fu0cj_hp_relaxed.owl ventral abdominal wall VHOG:0000764|EMAPA:17744|FMA:14627|EHDAA:5976 uberon owl:Class CL:0010022 biolink:NamedThing cardiac neuron tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0030344 biolink:NamedThing Decreased circulating luteinizing hormone level A reduction in the circulating level of luteinizing hormone (LH). tmpxe7fu0cj_hp_relaxed.owl Decreased circulating luteinising hormone level UMLS:C4072890 owl:Class N1bb22de8b0904504be157d12b38339c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005475 biolink:NamedThing sigmoid sinus A portion of the lateral venous sinus, bulging prominently into the mastoid cavity, that serves as a principal conduit by which blood leaves the cranium[EPIC]. The sigmoid is drained by the internal jugular vein. tmpxe7fu0cj_hp_relaxed.owl sulcus sigmoideus EMAPA:19060|EHDAA:9880|VHOG:0001337|EHDAA2:0001838|ncithesaurus:Sigmoid_Sinus|FMA:50782 Gray488:blue.gif uberon owl:Class The sigmoid sinuses, within a human head, are 2 areas beneath the brain, which allow blood veins to span the area, from the center of the head downward. They drain from the transverse sinuses (under the back of the brain) to the internal jugular vein. Each sigmoid sinus begins beneath the temporal bone and follows a tortuous course to the jugular foramen, at which point the sinus becomes continuous with the internal jugular vein[Wikipedia:Sigmoid_sinus]. CL:0002000 biolink:NamedThing Kit-positive erythroid progenitor cell An erythroid progenitor cell is Kit-positive, Ly6A-negative, CD41-negative, CD127-negative, and CD123-negative. This cell type is also described as being lin-negative, Kit-positive, CD150-negative, CD41-negative, CD105-positive, and FcgR-negative. tmpxe7fu0cj_hp_relaxed.owl c- Kit-positive erythroid progenitor cell Markers found on mouse cells. tmeehan 2010-04-26T10:14:16Z cell owl:Class PR:000002065 biolink:NamedThing mast/stem cell growth factor receptor A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human KIT gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl SCFR|tyrosine-protein kinase Kit|KIT|proto-oncogene c-Kit|CD117|Sl PIRSF:PIRSF500951|IUPHARobj:1805 Category=gene. Requested by=CL. protein owl:Class CHEBI:21644 biolink:NamedThing N-acyl-L-amino acid Any N-acylamino acid having L-configuration. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class UBERON:0004487 biolink:NamedThing musculature of forelimb zeugopod Any collection of muscles that is part of a lower arm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl set of muscles of forearm|muscle group of forearm|musculature of forearm FMA:39089 uberon owl:Class UBERON:0006227 biolink:NamedThing ethmoid bone primordium tmpxe7fu0cj_hp_relaxed.owl FMA:312597|EMAPA:18023|EHDAA:8363|EHDAA2:0000456 consider obsoleting, the ethmoid is endochondral? uberon owl:Class UBERON:0010064 biolink:NamedThing open anatomical space An anatomical space with at least one opening to another space or the exterior. tmpxe7fu0cj_hp_relaxed.owl AEO:0000221|EHDAA2:0004616 uberon owl:Class HP:0100151 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the middle bone of the 3rd toe UMLS:C4022270 doelkens 2010-06-24T10:24:13Z human_phenotype owl:Class N60c326bea5bf4d07a31aea63dfffb188 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc043bfcd45444e5eafb10f584a273db7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009965 biolink:NamedThing Complete duplication of the distal phalanx of the 3rd finger Complete duplication of the distal phalanx of middle finger tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the outermost bone of the 3rd finger UMLS:C4024141 doelkens 2009-05-26T12:49:35Z human_phenotype owl:Class N82cd5741877241bab00db4ada2ad4d52 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010227 biolink:NamedThing future cardiac atrium Multi-tissue structure that is part of the heart tube and will become the cardiac atrium. tmpxe7fu0cj_hp_relaxed.owl presumptive atrium heart tube|primordial cardiac atrium|primordial atrium ZFA:0001718|FMA:71005|TAO:0002228 uberon owl:Class UBERON:0002081 biolink:NamedThing cardiac atrium Cardiac chamber in which blood enters the heart. tmpxe7fu0cj_hp_relaxed.owl cardiac atria|heart atrium|atria|atrium of heart|atrial tissue|atrium Wikipedia:Heart_atrium|TAO:0000471|ZFA:0000471|UMLS:C0018792|AAO:0010246|MA:0000073|galen:Atrium|EHDAA:1265|FMA:7099|EMAPA:16688|EV:0100019|MAT:0000496|MESH:D006325|EHDAA2:0000154|EFO:0000277|SCTID:261405004|NCIT:C12728|BTO:0000903|CALOHA:TS-0437|GAID:555|VHOG:0000175 uberon owl:Class One of two chambers of the heart which receive blood from the veins and forces it by muscular contration to the ventricle.[AAO]|One of four heart chambers.[TAO] In the primitive vertebrate heart the four chambers are: 1. Sinus venosus (...) 2. Atrium (...) 3. Ventricle (...) 4. Conus arteriosus (...).[well established][VHOG] UBERON:0001045 biolink:NamedThing midgut Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. tmpxe7fu0cj_hp_relaxed.owl mesenteron EHDAA2:0001185|FBbt:00005383|EFO:0001950|XAO:0000103|TGMA:0001036|BTO:0000863|VHOG:0000290|EMAPA:16255|FMA:45617|EHDAA:983|MA:0001564|UMLS:C0231052|NCIT:C34210|BILA:0000086 http://upload.wikimedia.org/wikipedia/commons/3/3d/Illu_small_intestine.jpg Note we define this generically to include invertebrates (partly for consistency with GO), but the class may be split in future. We may explicitly make this a developmental class uberon owl:Class The bilaterian gut is typically a complete tube that opens to the exterior at both ends. It consists of mouth, foregut, midgut, hindgut, and anus (reference 1); Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut (reference 2).[well established][VHOG] In humans: originates from the foregut at the opening of the bile duct into the duodenum and continues through the small intestine and much of the large intestine until the transition to the hindgut about two-thirds of the way through the transverse colon in FMA this represents an embryonic region. HP:0500220 biolink:NamedThing Increased CSF tyrosine concentration Abnormally increased levels of tyrosine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High tyrosine levels in cerebrospinal fluid 2019-02-25 19:53:00+00:00 owl:Class N8311af5fdc6849fd896bba283065a81a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:6656 biolink:NamedThing Arthropoda tmpxe7fu0cj_hp_relaxed.owl arthropods GC_ID:1 ncbi_taxonomy owl:Class N524b312d431949398eab841eb92bde6b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N617a20f4f2714b65a6d1f8ac68c300e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004935 biolink:NamedThing Pulmonary artery atresia A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl Pulmonary atresia UMLS:C0265908|SNOMEDCT_US:10930001|SNOMEDCT_US:204443008 Pulmonary artery atresia means that unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. human_phenotype owl:Class N595ce5dc67fc4dc38c713bf1477a2ae2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006668 biolink:NamedThing Twelfth rib hypoplasia tmpxe7fu0cj_hp_relaxed.owl Small twelfth rib|Underdeveloped twelfth rib UMLS:C1859361 human_phenotype owl:Class Naac6f8f50c5841c1a4bd9bd4e780c06a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002087 biolink:NamedThing Abnormality of the upper respiratory tract An abnormality of the upper respiratory tract. tmpxe7fu0cj_hp_relaxed.owl Upper respiratory tract issues|Abnormality of the upper respiratory tract UMLS:C4025727 owl:Class Nfcf867b09d2444c48634b8eea39c0ce6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001159 biolink:NamedThing sigmoid colon The part of the large intestine that is closest to the rectum and anus. It forms a loop that averages about 40 cm. in length, and normally lies within the pelvis, but on account of its freedom of movement it is liable to be displaced into the abdominal cavity. tmpxe7fu0cj_hp_relaxed.owl colon sigmoideum|sigmoid colon|pelvic colon|sigmoid flexure CALOHA:TS-2044|MAT:0000314|NCIT:C12384|MESH:A03.492.411.495.356.668|OpenCyc:Mx4rwHX_-5wpEbGdrcN5Y29ycA|UMLS:C0227391|MIAA:0000314|FMA:14548|EFO:0000846|galen:SigmoidColon|NCIT:C33550|EMAPA:36391|BTO:0000645|UMLS:C0682612 http://upload.wikimedia.org/wikipedia/commons/3/3b/Dickdarm-Schema.svg uberon owl:Class UBERON:0001644 biolink:NamedThing trochlear nerve A cranial nerve that runs to the eye muscles. tmpxe7fu0cj_hp_relaxed.owl nervus trochlearis|nervus trochlearis [IV]|trochlear IV nerve|superior oblique nerve|trochlear nerve/root|4n|trochlear nerve or its root|nerve IV|trochlear nerve [IV]|trochlear|pathetic nerve|fourth cranial nerve|trochlear nerve tree|cranial nerve IV|CN-IV ZFA:0000600|BAMS:IVn|OpenCyc:Mx4rvyeBQ5wpEbGdrcN5Y29ycA|UMLS:C0041159|HBA:9319|TAO:0000600|AAO:0010469|MBA:911|BAMS:nIV|BIRNLEX:1654|GAID:838|MA:0001105|MESH:D014321|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=466|EHDAA2:0002090|XAO:0003091|BM:IVN|BAMS:4n|VHOG:0000705|EMAPA:18218|NCIT:C12808|FMA:50865 Trochlear:nerve.png uberon owl:Class Somatic efferent nerve which supplies a single eye muscle, the m. obliquus superior.[AAO] We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...) (reference 1); Phylogenetically, the cranial nerves are thought to have evolved from dorsal and ventral nerves of a few anterior spinal nerves that became incorporated into the braincase. Dorsal and ventral nerves fuse in the trunk but not in the head, and they produce two series: dorsal cranial nerves (V, VII, IX, and X) and ventral cranial nerves (III, IV, VI, and XIII) (reference 2).[well established][VHOG] Homologous trochlear nerves are found in all jawed vertebrates The human trochlear nerve is derived from the basal plate of the embryonic midbrain. UBERON:0001274 biolink:NamedThing ischium Endochondral bone that is paired, forming the posterior part of the pelvis, articulating with the pubis and ilium. tmpxe7fu0cj_hp_relaxed.owl ischial bone|os ischii|ischium bone UMLS:C0022122|AAO:0000860|galen:Ischium|OpenCyc:Mx4rvlzMKpwpEbGdrcN5Y29ycA|NCIT:C32884|GAID:208|VSAO:0005006|MESH:A02.835.232.611.548|EMAPA:18727|FMA:16592|MA:0001337 http://upload.wikimedia.org/wikipedia/commons/2/29/Illu_pelvic_girdle.jpg uberon owl:Class Paired bones of endochondral origin that constitute the posterior elements of the pelvic girdle. They are synostotically fused to each other and form the posterior part of the acetabulum.[AAO] ischial this is_a hip bone in MA; in FMA it is a zone of bone organ. UBERON:0008858 biolink:NamedThing pyloric canal The short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter. tmpxe7fu0cj_hp_relaxed.owl canalis pyloricus FMA:14580|EMAPA:37944 Illu:stomach.jpg uberon owl:Class N54698b6295b64eb188cd45379a5cdc3c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001178 biolink:NamedThing visceral peritoneum The inner layer of peritoneum that is wrapped around organs located inside the intraperitoneal space. tmpxe7fu0cj_hp_relaxed.owl visceral serous membrane of peritoneum SCTID:362702003|ZFA:0005132|EMAPA:16592|TAO:0005132|VHOG:0001528|Wikipedia:Visceral_peritoneum|FMA:14703 http://upload.wikimedia.org/wikipedia/commons/5/5f/Gray1040.png uberon owl:Class UBERON:0002358 biolink:NamedThing peritoneum A serous membrane that lines the peritoneal cavity[VHOG,modified]. tmpxe7fu0cj_hp_relaxed.owl peritonaeum CALOHA:TS-2072|EV:0100087|BTO:0001472|Wikipedia:Peritoneum|MA:0000449|UMLS:C0031153|XAO:0000139|ZFA:0005120|galen:Peritoneum|OpenCyc:Mx4rvjJ72ZwpEbGdrcN5Y29ycA|GAID:18|VHOG:0001257|FMA:9584|AAO:0010814|TAO:0005120|MESH:A01.047.025.600|NCIT:C12770 http://upload.wikimedia.org/wikipedia/commons/5/5f/Gray1040.png TODO - in ZFA is_a epithelium uberon owl:Class An epithelium that lines the peritoneal cavity.[TAO]|Serous membrane that forms the lining of the abdominal cavity or the coelom. It covers most of the intra-abdominal organs, supports the abdominal organs, and serves as a conduit for their blood and lymph vessels and nerves. It is composed of a layer of mesothelium.[AAO] peritoneal todo: check MA/EMAPA. HP:0006850 biolink:NamedThing Hypoplasia of the ventral pons Underdevelopment of the ventral portion of the pons. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped ventral pons UMLS:C1843507 owl:Class N954acc70e4dd449798f867609a59bca1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012317 biolink:NamedThing vagina orifice The median slit located inferior and posterior to the external urethral orifice in the female; the exit for menstrual flow and birth and the entrance for the penis during sexual intercourse; the size and appearance of the vaginal orifice varies inversely with that of the hymen (G. membrane), a thin fold of mucous membrane that surrounds the vaginal orifice. tmpxe7fu0cj_hp_relaxed.owl opening of vagina|vagina opening|orifice of vagina|vaginal introitus|introitus of vagina|introitus|vaginal orifice|ostium vaginae FMA:19984|EMAPA:37983 uberon owl:Class UBERON:0000996 biolink:NamedThing vagina A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]. tmpxe7fu0cj_hp_relaxed.owl distal oviductal region|distal portion of oviduct|vaginae EMAPA:18986|EV:0100117|MIAA:0000128|EFO:0000976|MAT:0000128|FMA:19949|NCIT:C12407|UMLS:C0042232|OpenCyc:Mx4rvVj1B5wpEbGdrcN5Y29ycA|MA:0000394|BTO:0000243|VHOG:0001138|GAID:381|galen:Vagina|CALOHA:TS-1103|MESH:D014621 http://upload.wikimedia.org/wikipedia/commons/a/a4/Vaginal_opening_-_english_description.jpg|http://upload.wikimedia.org/wikipedia/commons/1/1b/Illu_repdt_female.jpg uberon owl:Class Organ with organ cavity which connects the cervical canal of uterus to the vestibule of vagina.[FMA]|The genital canal in the female, leading from the opening of the vulva to the cervix of the uterus. [TFD][VHOG] The distal end of the oviducts differentiates as a vagina in Metatheria and Eutheria.[well established][VHOG] vaginal 'The distal end of the oviducts differentiates as a vagina in Metatheria and Eutheria.' Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective, Third Edition (2001) Orlando Fla.: Harcourt College Publishers, p.688 GO:0007507 biolink:NamedThing heart development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. tmpxe7fu0cj_hp_relaxed.owl cardiac development|dorsal vessel development Wikipedia:Heart_development GO:0007511 biological_process owl:Class GO:0007606 biolink:NamedThing sensory perception of chemical stimulus The series of events required for an organism to receive a sensory chemical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpxe7fu0cj_hp_relaxed.owl chemosensory perception biological_process owl:Class UBERON:0010751 biolink:NamedThing squamous part of temporal bone primordium tmpxe7fu0cj_hp_relaxed.owl squamosal bone primordium|squamosal primordium EHDAA:9536|EHDAA2:0001907 uberon owl:Class N755419cd44ae46d187326e569db5389a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N366abd768f38453197d7783859e1cac4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003364 biolink:NamedThing epithelium of right lung An epithelium that is part of a right lung [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl right lung epithelial tissue|epithelial tissue of right lung|right lung epithelium MA:0003132|EMAPA:17663 uberon owl:Class UBERON:0004293 biolink:NamedThing parasympathetic nerve A nerve that is part of a parasympathetic nervous system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nerve of parasympathetic nervous system EMAPA:17271|EHDAA2:0001401|MA:0000224|VHOG:0000641|SCTID:276146002 uberon owl:Class N77629c1b00594e0eb09a47be5d7a2960 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0018239 biolink:NamedThing rhombomere boundary A boundary delimiting a rhombomere. tmpxe7fu0cj_hp_relaxed.owl rhombomere junction uberon owl:Class UBERON:5006052 biolink:NamedThing digit 5 plus metapodial segment A subdivision of the autopod consisting of digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl digit 5 ray|digit V plus metapodial segment|digit 5|digit 5 digitopodial subdivision|digit 5 ( phalanges plus metapodial) plus soft tissue this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class UBERON:5106052 biolink:NamedThing digit 5 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of digit 5 plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl digit 5 skeleton|digit 5|digit V digitopodial skeleton this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class HP:0100102 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the outermost bone of the 2nd toe UMLS:C4022319 doelkens 2010-06-24T10:04:20Z human_phenotype owl:Class N5e27448a0d1949c0810a4684ed9f08e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6c327912c49044758f30f957ced8587d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003257 biolink:NamedThing yolk sac endoderm The portion of the yolk sac that is derived from endoderm and lines the yolk sac. tmpxe7fu0cj_hp_relaxed.owl EHDAA:166|VHOG:0000626|EHDAA2:0002215|EMAPA:16086 uberon owl:Class CHEBI:17754 biolink:NamedThing glycerol A triol with a structure of propane substituted at positions 1, 2 and 3 by hydroxy groups. tmpxe7fu0cj_hp_relaxed.owl Oelsuess|glycerolum|Propanetriol|1,2,3-Trihydroxypropane|GLYCEROL|glycerine|Glyzerin|glycerol|Gro|1,2,3-Propanetriol|Glycerin|glycyl alcohol|Glycerol|propane-1,2,3-triol|Glyceritol|Trihydroxypropane 0 C3H8O3 InChI=1S/C3H8O3/c4-1-3(6)2-5/h3-6H,1-2H2 PEDCQBHIVMGVHV-UHFFFAOYSA-N 92.09382 92.04734 OCC(O)CO PMID:15342117|PMID:23562176|PMID:12713573|PMID:16651733|PMID:24835191|PDBeChem:GOL|PMID:11958517|PMID:25108762|YMDB:YMDB00283|CAS:56-81-5|PMID:6299616|PMID:12672239|PMID:19548674|DrugBank:DB04077|HMDB:HMDB0000131|Drug_Central:1316|PMID:11302662|Gmelin:26279|PMID:19795216|PMID:16349488|KEGG:D00028|PMID:19460032|UM-BBD_compID:c0066|PMID:11994365|PMID:7392035|PMID:7031247|PMID:14563847|PMID:12687625|PMID:16664750|PMID:19184438|Beilstein:635685|PMID:14559393|PMID:22705534|PMID:15786693|ECMDB:ECMDB00131|PDB:2D03|PMID:16475911|PMID:24643482|KEGG:C00116|KNApSAcK:C00001163|PMID:15026783|FooDB:FDB000756|PMID:16901854|PDB:2AJS|LINCS:LSM-37180|PMID:16244855|Wikipedia:Glycerol|PMID:19231894|MetaCyc:GLYCEROL|Reaxys:635685|PMID:16258193|PMID:17336832|PMID:16319039|PMID:15983192|PMID:19956799|PMID:12689633|PMID:558160|PMID:17439666|Chemspider:733|PMID:23747440|PPDB:1317|PMID:17979222 CHEBI:24351|CHEBI:5448|CHEBI:131422|CHEBI:42998|CHEBI:14334 chebi_ontology owl:Class CHEBI:25728 biolink:NamedThing osmolyte A solute used by a cell under water stress to maintain cell volume. tmpxe7fu0cj_hp_relaxed.owl osmolytes chebi_ontology owl:Class HP:0001544 biolink:NamedThing Prominent umbilicus Abnormally prominent umbilicus (belly button). tmpxe7fu0cj_hp_relaxed.owl Prominent navel|Prominent belly button UMLS:C1837795 human_phenotype owl:Class N56d01f32e56d47e1a98ab1382f69b834 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7376afba2686413d9b48c7de0c74bb30 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000446 biolink:NamedThing septum of telencephalon Gray matter structure located on the midline of the forebrain consisting of the septum pellucidum (in some species) and the septal nuclei (Heimer, 1996). tmpxe7fu0cj_hp_relaxed.owl septum pellucidum (BNA,PNA)|telencephalon septum|septum telencephali|massa praecommissuralis|area septalis|septal area|Se|septum|septal region|septum (NN) MESH:A08.186.211.577.750|BM:Tel-Spt|UMLS:C0752060|MA:0000924|EMAPA:32837|BIRNLEX:963|BTO:0002705|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=255|BAMS:Sep|BAMS:Spt|BAMS:SA|FMA:61842|BAMS:SEP uberon owl:Class Subdivision of the telencephalon on the midline between the lateral ventricles which contains the septum pellucidum and the septal nuclei[FMA][FMA:61842]. UBERON:0010183 biolink:NamedThing liver trabecula A trabecula that is part of a liver. tmpxe7fu0cj_hp_relaxed.owl hepatic trabecula uberon owl:Class UBERON:0002129 biolink:NamedThing cerebellar cortex The superficial gray matter of the cerebellum. It consists of three main layers, the molecular layer, the Purkinje cell layer and the granule cell layer. tmpxe7fu0cj_hp_relaxed.owl cortex cerebelli|cortex of cerebellar hemisphere|cortex cerebellaris NCIT:C49216|HBA:4697|MBA:528|BIRNLEX:1566|EV:0100294|FMA:72248|GAID:596|CALOHA:TS-2000|MESH:D002525|VHOG:0001597|DMBA:16939|UMLS:C0007759|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=647|MA:0000199|UMLS:C1284087|BAMS:CbCx|BAMS:CBX|BTO:0000043|EMAPA:35211|BM:CB-Cbx|BAMS:CB|DHBA:10657 The circuits in the cerebellar cortex look similar across all classes of vertebrates, including fish, reptiles, birds, and mammals (e.g., Fig. 2). This has been taken as evidence that the cerebellum performs functions important to all vertebrate species. (Wikipedia) Cerebellum:NIH.png uberon owl:Class The cerebellar cortex is a thin mantle of gray matter that covers the surface of each cerebral hemisphere. It has a characteristic morphology with convolutions (gyri) and crevices (sulci) that have specific functions. Six layers of nerve cells and the nerve pathways that connect them comprise the cerebellar cortex. Together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function[GO][GO:0021695]. HP:0005857 biolink:NamedThing Cervical spina bifida tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:32232003|UMLS:C0266501 human_phenotype owl:Class Nc027ce5f216849268240092bb649f1ff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000190 biolink:NamedThing Abnormal oral frenulum morphology An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. tmpxe7fu0cj_hp_relaxed.owl Abnormality of frenum of tongue|Abnormality of lingual frenum|Abnormality of oral frenula|Abnormality of oral frenum UMLS:C4025881 A frenulum is a small frenum. There are several frena that are usually present in a normal oral cavity, most notably the maxillary labial frenum, the mandibular labial frenum, and the lingual frenum. human_phenotype owl:Class Na5cc6550a3f2424b955ab94b67de821d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001572 biolink:NamedThing hyoglossus muscle A muscle that attaches to the hyopid bone and to the tongue and is innervated by cranial nerve XII. tmpxe7fu0cj_hp_relaxed.owl hyoglossus|m. hyoglossus SCTID:244785008|MFMO_0000064|FMA:46691|MA:0002317|NCIT:C53161|AAO:0010663|Wikipedia:Hyoglossus_muscle|UMLS:C0224196|EMAPA:18277 http://upload.wikimedia.org/wikipedia/commons/7/7e/Hyoglossus.png uberon owl:Class The hyoglossus is a muscle that attaches to the hyoid and tongue and is innervated by Cranial Nerve XII.[FEED]|Makes up part of the tongue in frogs and salamanders.[AAO] relationship loss: subclass hyobranchial muscles (AAO:0000224)[AAO] GO:0106015 biolink:NamedThing negative regulation of inflammatory response to wounding Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response to wounding. tmpxe7fu0cj_hp_relaxed.owl hjd 2017-04-28T20:09:46Z biological_process owl:Class GO:0090594 biolink:NamedThing inflammatory response to wounding The immediate defensive reaction by vertebrate tissue to injury caused by chemical or physical agents. tmpxe7fu0cj_hp_relaxed.owl tb 2014-08-12T12:13:53Z biological_process owl:Class UBERON:0010411 biolink:NamedThing retroperitoneal fat pad Encapsulated adipose tissue found on the dorsal side of the peritoneum. tmpxe7fu0cj_hp_relaxed.owl retroperitoneal fat depot MA:0002549 uberon owl:Class UBERON:0003693 biolink:NamedThing retroperitoneal space Anatomical space in the abdominal cavity behind (retro) the peritoneum. It has no specific delineating anatomical structures. Organs are retroperitoneal if they only have peritoneum on their anterior side. tmpxe7fu0cj_hp_relaxed.owl retroperitoneum|spatium retroperitoneale EFO:0002806|CALOHA:TS-2337|NCIT:C12298|GAID:25|FMA:15080|MESH:A01.047.025.750|UMLS:C0035359 http://upload.wikimedia.org/wikipedia/commons/f/f2/Gray1126.png uberon owl:Class retroperitoneal UBERON:0001811 biolink:NamedThing conjunctiva The mucous membrane that lines the inner surface of the eyelids and the front of the eyeball. tmpxe7fu0cj_hp_relaxed.owl tunica conjunctiva|conjunctivas|conjunctivae|wall of conjunctival sac GAID:898|EMAPA:18233|MA:0000265|BTO:0003415|FMA:59011|UMLS:C0009758|AAO:0010343|XAO:0000182|MESH:A09.371.192|NCIT:C12341|EFO:0000374|EV:0100340|CALOHA:TS-2232 http://upload.wikimedia.org/wikipedia/commons/5/55/Gray883.png uberon owl:Class conjunctival HP:0001399 biolink:NamedThing Hepatic failure tmpxe7fu0cj_hp_relaxed.owl Liver failure UMLS:C0085605|MSH:D017093|SNOMEDCT_US:59927004 human_phenotype owl:Class N7ffa15e4ec534a14bdfa4d5597bf6e86 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:16991 biolink:NamedThing deoxyribonucleic acid High molecular weight, linear polymers, composed of nucleotides containing deoxyribose and linked by phosphodiester bonds; DNA contain the genetic information of organisms. tmpxe7fu0cj_hp_relaxed.owl DNAn|deoxyribonucleic acids|DNA|(Deoxyribonucleotide)n|(Deoxyribonucleotide)m|desoxyribose nucleic acid|Desoxyribonukleinsaeure|DNAn+1|thymus nucleic acid|Deoxyribonucleic acid|(Deoxyribonucleotide)n+m|DNS KEGG:C00039|CAS:9007-49-2 CHEBI:33698|CHEBI:4291|CHEBI:13302|CHEBI:21123 chebi_ontology owl:Class CHEBI:4167 biolink:NamedThing D-glucopyranose A glucopyranose having D-configuration. tmpxe7fu0cj_hp_relaxed.owl D-Glcp|D-glucose|D-Glc|WURCS=2.0/1,1,0/[a2122h-1x_1-5]/1/|Glc-OH|Glucose|D-Glucose|Grape sugar|glucose|D-glucopyranose|Dextrose 0 C6H12O6 InChI=1S/C6H12O6/c7-1-2-3(8)4(9)5(10)6(11)12-2/h2-11H,1H2/t2-,3-,4+,5-,6?/m1/s1 WQZGKKKJIJFFOK-GASJEMHNSA-N 180.15588 180.06339 OC[C@H]1OC(O)[C@H](O)[C@@H](O)[C@@H]1O KEGG:D00009|PMID:7524207|Beilstein:1281604|GlyGen:G15021LG|Wikipedia:Glucose|GlyTouCan:G15021LG|Reaxys:1281604|CAS:2280-44-6|PMID:32619908|MetaCyc:D-Glucose|HMDB:HMDB0000122|PMID:9545565|PMID:16901854|PMID:17928662|PMID:15987845|PMID:17336832|PMID:9501190|PMID:26812026|PMID:17439666|PMID:19913595|KEGG:C00031|KNApSAcK:C00001122|Gmelin:83256|PMID:9506998|PMID:9140037 chebi_ontology owl:Class GO:0051146 biolink:NamedThing striated muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle. tmpxe7fu0cj_hp_relaxed.owl voluntary muscle cell differentiation biological_process owl:Class UBERON:0003425 biolink:NamedThing renal lymph node A lymph node that is located in a kidney [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl kidney lymph node|lymph node of kidney UMLS:C2699031|FMA:276799|NCIT:C77646|MA:0002882 uberon owl:Class Dorsal to the ipsilateral kidney nearby the renal blood vessels, caudal to the adrenal gland PR:P02768 biolink:NamedThing albumin (human) An albumin that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl hALB|UNQ696/PRO1341|ALB|PRO2619|PRO1708|PRO2675|GIG20|PRO2044|PRO0903|GIG42|serum albumin (human) UniProtKB:P02768 Category=organism-gene. protein owl:Class UBERON:0014679 biolink:NamedThing distal interphalangeal joint of digit 4 A distal interphalangeal joint that is part of a digit 4. tmpxe7fu0cj_hp_relaxed.owl distal interphalangeal joint of digit IV|distal interphalangeal joint 4 NCIT:C102293 uberon owl:Class UBERON:0006051 biolink:NamedThing digit 4 A digit that is part of a digit 4 plus metapodial segment. tmpxe7fu0cj_hp_relaxed.owl digit IV|autopod digit 4|fourth digit|limb digit 4 EMAPA:37288 uberon owl:Class 4 GO:0043401 biolink:NamedThing steroid hormone mediated signaling pathway A series of molecular signals mediated by a steroid hormone binding to a receptor. tmpxe7fu0cj_hp_relaxed.owl steroid hormone mediated signalling biological_process owl:Class CHEBI:66884 biolink:NamedThing N-alkylglycine zwitterion An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of any N-alkylglycine; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl an N-alkylglycine 0 C2H4NO2R 74.059 74.02420 [O-]C(=O)C[NH2+][*] MetaCyc:N-Alkylglycine|PMID:9989229 chebi_ontology owl:Class CHEBI:57305 biolink:NamedThing glycine zwitterion An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of glycine. tmpxe7fu0cj_hp_relaxed.owl glycine|2-azaniumylacetate 0 C2H5NO2 InChI=1S/C2H5NO2/c3-1-2(4)5/h1,3H2,(H,4,5) DHMQDGOQFOQNFH-UHFFFAOYSA-N 75.06660 75.03203 [NH3+]CC([O-])=O MetaCyc:GLY|Gmelin:1807 chebi_ontology owl:Class CL:0000218 biolink:NamedThing myelinating Schwann cell A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons. tmpxe7fu0cj_hp_relaxed.owl Schwann cell|peripheral neuroglial cell|neurilemmal cell FMA:62121|CALOHA:TS-0898 cell owl:Class UBERON:0001679 biolink:NamedThing ethmoid bone A bone in the skull that separates the nasal cavity from the brain. As such, it is located at the roof of the nose, between the two orbits. The cubical bone is lightweight due to a spongy construction. The ethmoid bone is one of the bones that makes up the orbit of the eye[WP]. tmpxe7fu0cj_hp_relaxed.owl ethmoid|ethmoidal bone|os ethmoidale NCIT:C12711|GAID:212|FMA:52740|OpenCyc:Mx4rvuUPh5wpEbGdrcN5Y29ycA|MA:0001483|BTO:0004140|MESH:D005004|UMLS:C0015027|EMAPA:19018|VHOG:0001317 http://upload.wikimedia.org/wikipedia/commons/6/66/Illu_cranial_bones2.jpg uberon owl:Class A light spongy bone located between the eye sockets, forming part of the walls and septum of the superior nasal cavity, and containing perforations for the passage of olfactory nerve fibers. [TFD][VHOG] The ethmoid region of the chondrocranium and the nasal capsules, which were largely unossified in early tetrapods and ancestral amniotes, are represented in mammals by the ethmoid and turbinates bones, respectively.[well established][VHOG] ethmoidal todo - homology e.g. mesethmoid of teleost Note the WP states the Neurocranium contains the ethmoid bone, both MA and FMA place the ethmoid as part of the viscerocranium. FMA also has it in neurocranium (via basicranium). Ideally we would have non-overlapping divisions of the skull, but for now we follow FMA UBERON:0003100 biolink:NamedThing female organism Gonochoristic organism that can produce female gametes. tmpxe7fu0cj_hp_relaxed.owl female|female human body ZFA:0000303|TAO:0000303|CARO:0000028|AAO:0010030|XAO:0003005|SCTID:362608006|TGMA:0001839|FMA:67812|HAO:0000028|FBbt:00007011|BILA:0000028 uberon owl:Class N705236fdddf14a32a93aeef535c7bb10 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002110 biolink:NamedThing gall bladder An organ that aids digestion and stores bile produced by the liver[WP]. tmpxe7fu0cj_hp_relaxed.owl vesica biliaris|gallbladder|vesica fellea|gall bladder EFO:0000853|EV:0100090|VHOG:0000221|CALOHA:TS-0394|BTO:0000493|FMA:7202|MA:0000356|MIAA:0000072|TAO:0000208|UMLS:C0016976|ZFA:0000208|OpenCyc:Mx4rvVkGr5wpEbGdrcN5Y29ycA|EHDAA:8062|galen:Gallbladder|MAT:0000072|AAO:0010114|EHDAA2:0000699|MESH:D005704|XAO:0000135|EMAPA:17202|NCIT:C12377 Rats do not have a gallbladder, but produce bile. The bile flows directly from the liver through the (hepatic) bile duct into the small intestine (Hebel and Stromberg, 1988) Abdomal:organs.svg|https://upload.wikimedia.org/wikipedia/commons/b/b1/GallbladderAnatomy-en.svg uberon owl:Class Membranous muscular sac in which the bile from the liver remains stored until it is required. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]|Organ attached to the liver which stores bile and empties into the duodenum via the bile duct as needed for digestion.[AAO] relationship type change: differentiates_from endoderm (AAO:0000139) CHANGED TO: develops_from endoderm (UBERON:0000925)[AAO] The presence of a gallbladder appears to be a primitive trait. It is found in most fish and all adult reptiles and amphibians and has been well conserved in mammals, for the most part.[well established][VHOG] HP:0000482 biolink:NamedThing Microcornea A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. tmpxe7fu0cj_hp_relaxed.owl Cornea of eye less than 10mm in diameter|Decreased corneal diameter UMLS:C0266544|UMLS:C1167713|SNOMEDCT_US:26098002 Note that the cornea's diameter is normally about 9.5-10.0 mm at birth and reaches 10.0-12-5 mm in adulthood. HP:0100688 human_phenotype owl:Class Ndaf781afa20d4065af1fd1ac54cf3431 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008515 biolink:NamedThing Aplasia/Hypoplasia of the vertebrae tmpxe7fu0cj_hp_relaxed.owl Absent/small vertebrae|Absent/underdeveloped vertebrae UMLS:C4024662 peter 2008-04-04T02:30:00Z human_phenotype owl:Class N316b0179c3a34b38b1545bc630eac3bd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005971 biolink:NamedThing amniotic fold A sheet of somatopleure that grows upward over the embryo and eventually meets in the midline enclosing the embryo, eventually giving rise to the amnion and chorion[Kardong]. tmpxe7fu0cj_hp_relaxed.owl amnionic fold EMAPA:16076 uberon owl:Class GO:0036504 biolink:NamedThing Golgi membrane fusion The joining of two lipid bilayers that surround the Golgi apparatus to form a single Golgi membrane. tmpxe7fu0cj_hp_relaxed.owl post-mitotic fusion of Golgi membranes|membrane fusion involved in Golgi reassembly bf 2015-05-21T10:05:06Z biological_process owl:Class GO:0000139 biolink:NamedThing Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class Nf9245e853ef443baae594cbb73f86ed7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:91007 biolink:NamedThing aromatic carboxylate A carboxylic acic anion obtained by deprotonation of the carboxy group of any aromatic carboxylic acid. Major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl an aromatic carboxylate -1 CO2R 44.010 43.98983 *C([O-])=O chebi_ontology owl:Class UBERON:0002204 biolink:NamedThing musculoskeletal system Anatomical system that consists of the muscular and skeletal systems. tmpxe7fu0cj_hp_relaxed.owl musculo-skeletal system EV:0100139|XAO:0000168|AAO:0010546|UMLS:C0026860|GAID:98|VSAO:0000031|CALOHA:TS-1311|FMA:7482|EMAPA:32714|SCTID:278858007|VHOG:0001275|Wikipedia:Musculoskeletal_system|MESH:D009141|OpenCyc:Mx4rQRpVNgAKEdyHxgDggVfs8g|MA:0002418|NCIT:C12754 uberon owl:Class Anatomical system that provides locomotion and physical support to the organism.[AAO] There are more than 50,000 extant vertebrate species, representing over 500 million years of evolution. During that time, the vertebrate musculoskeletal systems have adapted to aquatic, terrestrial, fossorial, and arboreal lifestyles, while simultaneously retaining functionally integrated axial and appendicular skeletal systems.[well established][VHOG] musculoskeletal GO:0040011 biolink:NamedThing locomotion Self-propelled movement of a cell or organism from one location to another. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0003137 biolink:NamedThing Prolinuria An increased concentration of proline in the urine. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:53124003|UMLS:C0268534 Normal urinary proline total (free and combined form) excretion is around 40 mg per 24 hours. human_phenotype owl:Class N934d76ebe71044b9a8acdd9375104850 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100770 biolink:NamedThing Hyperperistalsis Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine. tmpxe7fu0cj_hp_relaxed.owl Stomach churning SNOMEDCT_US:271838002|UMLS:C0857071|UMLS:C0232474|SNOMEDCT_US:80306002 doelkens 2011-06-07T11:53:08Z human_phenotype owl:Class N4ef991a7226b413d8cf57d844a8f261b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:32657 biolink:NamedThing D-asparaginium tmpxe7fu0cj_hp_relaxed.owl D-asparaginium|(1R)-3-amino-1-carboxy-3-oxopropan-1-aminium|D-asparagine cation +1 C4H9N2O3 InChI=1S/C4H8N2O3/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H2,6,7)(H,8,9)/p+1/t2-/m1/s1 DCXYFEDJOCDNAF-UWTATZPHSA-O 133.12594 133.06077 NC(=O)C[C@@H]([NH3+])C(O)=O chebi_ontology owl:Class CL:0000451 biolink:NamedThing dendritic cell A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). tmpxe7fu0cj_hp_relaxed.owl veiled cell|interdigitating cell BTO:0002042|FMA:83036|CALOHA:TS-0194 cell owl:Class UBERON:0003129 biolink:NamedThing skull Anatomical structure that is part of the head consisting entirely of cranium and mandible[WP]. tmpxe7fu0cj_hp_relaxed.owl cranial skeleton|skeletal system of head galen:Skull|OpenCyc:Mx4rvVjOsZwpEbGdrcN5Y29ycA|SCTID:110530005|WikipediaCategory:Skull|MESH:D012886|Wikipedia:Skull|EHDAA2:0000325|NCIT:C12789|BTO:0001295|UMLS:C0037303|CALOHA:TS-2344|FMA:46565|EMAPA:17680|GAID:82 uberon owl:Class in many ontologies, the structure called the cranium is inclusive of the mandible/lower jaw skeleton|in FMA the skull is divided into orbit, neurocranium (8 parts), viscerocranium (26 parts). Here we have a separate overlapping division into cranium and mandible. A skull that is missing a mandible is only a cranium; this is the source of a very commonly made error in terminology. Those animals having skulls are called craniates UBERON:0003128 biolink:NamedThing cranium Upper portion of the skull that excludes the mandible (when present in the organism). tmpxe7fu0cj_hp_relaxed.owl set of bones of cranium|skull minus mandible|calvarium|skeletal system of head|upper part of skull|bones of cranium|epicranial plate|ossa cranii FMA:71325|EFO:0000831|VHOG:0000334|MA:0000316|BTO:0001328|MAT:0000340|Wikipedia:Cranium_(anatomy)|EMAPA:17680|MIAA:0000340|OpenCyc:Mx4rvVlEyJwpEbGdrcN5Y29ycA|SCTID:181889008|EHDAA:6029 uberon owl:Class cranial the inclusion of the FMA class here is probably not quite correct, as this class includes as parts sutures, whereas this is not part of the bones of the cranium The term cranium can be ambiguous, in that it can refer to the neurocranium, or the neurocranium and the Facial skeleton UBERON:0001514 biolink:NamedThing descending aorta The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries[GO]. The descending aorta is part of the aorta, the largest artery in the body. The descending aorta is the part of the aorta beginning at the aortic arch that runs down through the chest and abdomen. The descending aorta is divided into two portions, the thoracic and abdominal, in correspondence with the two great cavities of the trunk in which it is situated. Within the abdomen, the descending aorta branches into the two common iliac arteries which serve the legs. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl aorta descendens|pars descendens aortae OpenCyc:Mx4rv4EE35wpEbGdrcN5Y29ycA|NCIT:C32455|MA:0002571|FMA:3784|SCTID:261399002|UMLS:C0011666|Wikipedia:Descending_aorta|EMAPA:18606 http://upload.wikimedia.org/wikipedia/commons/e/e6/Gray506.svg uberon owl:Class results from fusion of left and right dorsal aortae UBERON:0005613 biolink:NamedThing left dorsal aorta tmpxe7fu0cj_hp_relaxed.owl EHDAA:404|EMAPA:16205|MA:0000478|EHDAA2:0000936|SCTID:361403005|VHOG:0000484 uberon owl:Class A study of embryos shows that in all vertebrates six arterial arches link the ventral aorta with a pair of lateral dorsal aortae on each side of the body. The latter unite posteriorly to form a single median dorsal aorta wich takes blood to the body.[well established][VHOG] Contributes to the arch of aorta in humans Nd322d1bbb2464299b3801fcc9df3993d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410400 biolink:NamedThing Absent sebaceous glands Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts. tmpxe7fu0cj_hp_relaxed.owl Absence of sebaceous glands owl:Class Ndedf3d174f024afd8f2df9d81ee68bb3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008192 biolink:NamedThing tendon of triceps brachii A tendon that attaches_to a triceps brachii. tmpxe7fu0cj_hp_relaxed.owl triceps tendon|tendon of triceps brachii muscle|triceps brachii tendon FMA:38380 uberon owl:Class UBERON:0001597 biolink:NamedThing masseter muscle Pharyngeal arch 1 muscle that participates in oral/pharyngeal behaviors, is innervated by masseteric nerve branches of the trigeminal nerve (CN V), and attaches to mandible and zygomatic arch. tmpxe7fu0cj_hp_relaxed.owl masseter|musculus masseter EFO:0001424|EMAPA:25135|MA:0002343|BTO:0001755|NCIT:C13074|MFMO:0000075|FMA:48996|MESH:D008406|EHDAA:10561|UMLS:C0024876|VHOG:0000823|EHDAA2:0001067 http://upload.wikimedia.org/wikipedia/commons/7/78/Illu_head_neck_muscle.jpg uberon https://github.com/obophenotype/uberon/issues/540 owl:Class The division of the adductor mandibulae in the various lines of tetrapod evolution correlates with divergences in their methods of feeding. (...) As the jaws become stronger and their movements more complex in the line of evolution toward mammals, the adductor complex becomes divided into several distinct muscles (temporalis, masseter, pterygoideus, tensor tympani, tensor veli palati).[well established][VHOG] The division of the adductor mandibulae in the various lines of tetrapod evolution correlates with divergences in their methods of feeding. (...) As the jaws become stronger and their movements more complex in the line of evolution toward mammals, the adductor complex becomes divided into several distinct muscles (temporalis, masseter, pterygoideus, tensor tympani, tensor veli palati)|The masseter is a jaw muscle of therapsids derived from the m. adductor mandibulae externus, which originates in the adductor chamber (in the temporal fenestra) and inserts on the coronoid process and internal surface of the lower jaw.[Palaeos] UBERON:0001684 biolink:NamedThing mandible A dentary bone that is the only bone in one of the lateral halves of the lower jaw skeleton. tmpxe7fu0cj_hp_relaxed.owl mandibula|inferior maxillary bone|mammaliam mandible|lower mandibula|mandibulla|lower jaw bone|mandibular series|lower jaw CALOHA:TS-2225|GAID:68|galen:Mandible|EHDAA2:0001059|MESH:D008334|EHDAA:8007|BTO:0001748|NCIT:C12290|FMA:52748|EFO:0001965|UMLS:C0024687|MA:0001487|EMAPA:18290 http://upload.wikimedia.org/wikipedia/commons/6/64/Gray176.png consider merging with dentary - for now we make it a mammal-specific subclass. uberon owl:Class mandibular Note in ZFA 'mandible' is a syn for the ventral mandibular arch, which is a portion of the 1st pharyngeal arch; however the term 'mandibular symphysis' refers to the dentary 'mandible' also refers to either the upper OR lower part of the beak in birds UBERON:0003832 biolink:NamedThing esophagus muscle Any muscle organ that is part of a esophagus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscle organ of esophagus|gullet muscle organ|esophagus muscle organ|muscle organ of oesophagus|oesophagus muscle organ|muscle organ of gullet|esophageal muscle EMAPA:26983|SCTID:360961009|MA:0002682 merge muscle and muscle layer? uberon owl:Class UBERON:0001096 biolink:NamedThing wall of esophagus An anatomical wall that is part of a esophagus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl esophagus wall|esophagus anatomical wall|anatomical wall of oesophagus|anatomical wall of esophagus|esophageal wall|wall of gullet|oesophagus anatomical wall|wall of oesophagus|gullet anatomical wall|anatomical wall of gullet|oesophagus wall|gullet wall FMA:12611|EMAPA:35326|MA:0002691 uberon owl:Class UBERON:0035819 biolink:NamedThing abdominopelvic cavity The part of the ventral body cavity that is within the abdominal segment of the trunk, which encompasses the abdomen proper plus pelvic cavity. tmpxe7fu0cj_hp_relaxed.owl cavitas abdominis et pelvis Wikipedia:Abdominopelvic_cavity|FMA:12267 uberon owl:Class Na532c61c88964ffd91e0a6653a294ef5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1900157 biolink:NamedThing regulation of bone mineralization involved in bone maturation Any process that modulates the frequency, rate or extent of bone mineralization involved in bone maturation. tmpxe7fu0cj_hp_relaxed.owl vk 2012-03-07T08:55:07Z biological_process owl:Class GO:0035630 biolink:NamedThing bone mineralization involved in bone maturation The deposition of hydroxyapatite, involved in the progression of the skeleton from its formation to its mature state. tmpxe7fu0cj_hp_relaxed.owl Bone mineralization can also occur after a fracture and as a response to stress; in these cases, consider using the term 'bone mineralization ; GO:0030282'. bf 2010-12-20T01:57:31Z biological_process owl:Class HP:0009256 biolink:NamedThing Ivory epiphysis of the distal phalanx of the 4th finger Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the outermost ring finger bone UMLS:C4024491 doelkens 2009-01-07T12:07:34Z human_phenotype owl:Class N7563432b0d3b466381c26f1752dea12d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010282 biolink:NamedThing Thin lower lip vermilion Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective). tmpxe7fu0cj_hp_relaxed.owl Thin lower lip|Thin vermilion border of lower lip|Decreased volume of lower lip vermilion|Thin red part of the lower lip|Decreased height of lower lip vermilion|Decreased volume of lower lip UMLS:C2053440 Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The height of the vermilion of the lower lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. If the lower lip vermilion is thin, the inferior border of the vermilion is less curved, and on a profile view, the lower lip vermilion is less convex than usual. peter 2009-07-12T10:17:22Z human_phenotype owl:Class Neee383d9e56a46b290ae3acaf3a9f7b9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004151 biolink:NamedThing cardiac chamber A cardiac chamber surrounds an enclosed cavity within the heart. tmpxe7fu0cj_hp_relaxed.owl heart chamber|chamber of heart FMA:7095|OpenCyc:Mx4rmexpjPdAEduAAAAOpmP6tw|SCTID:276456008 generic enough to cover FBbt:00003156 heart chamber but this is a cavity. GO defines it as the cavity. TODO - move subclasses. Note this also includes sinus venosus uberon owl:Class N408440a36eed48c1b5058f6dac79a750 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na6cecaa34a154f6685e69124ac9cc7a0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd04be0ecb28a4b6e82b4fe8aae865d58 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008763 biolink:NamedThing No social interaction tmpxe7fu0cj_hp_relaxed.owl No social interaction UMLS:C1849683 human_phenotype owl:Class N3c51ae2cce034ea58dba04281374e301 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:3000058 biolink:NamedThing Abnormality of inferior rectus extraocular muscle An abnormality of an inferior rectus extraocular muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073266 vasilevs 2015-08-07T03:18:44Z owl:Class N3a87c8e8712240f08746467610a68577 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1904588 biolink:NamedThing cellular response to glycoprotein Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glycoprotein stimulus. tmpxe7fu0cj_hp_relaxed.owl cellular response to glycoproteins sl 2015-08-20T16:46:30Z biological_process owl:Class UBERON:0015178 biolink:NamedThing somite border A region of somite adjacent to presomitic mesoderm. tmpxe7fu0cj_hp_relaxed.owl intersomitic boundary|intersomitic junction|segmental border|inter-somited border|intersomitic fissure|somite boundary ZFA:0001462|TAO:0001462|XAO:0004074 uberon owl:Class N7a05b2d4bb8a4e7caf9177da2113077e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1904888 biolink:NamedThing cranial skeletal system development The process whose specific outcome is the progression of a cranial skeletal system over time, from its formation to the mature structure. The cranial skeletal system is the skeletal subdivision of the head, and includes the skull (cranium plus mandible), pharyngeal and/or hyoid apparatus. tmpxe7fu0cj_hp_relaxed.owl cranium development|cranial skeleton development|osteocranium development|craniofacial development bf 2016-01-07T13:45:06Z biological_process owl:Class N78cade99411a4644abaa876f2de1c991 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010104 biolink:NamedThing Absent first metatarsal A developmental defect characterized by the absence of the first metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Aplasia of the 1st metatarsal|Absent 1st metatarsal|Absent 1st long bone of foot UMLS:C1863382 doelkens 2009-05-29T12:42:09Z HP:0006124 human_phenotype owl:Class N035d9e36eac6423fbc0891aaa6e572ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008555 biolink:NamedThing Absent vestibular function Complete lack of functioning of the vestibular apparatus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024656 human_phenotype owl:Class N51da9293bd4a453faebe35a6af35ce44 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011121 biolink:NamedThing cricothyroid joint The cricoarytenoid articulation (or joint) is a joint connecting the cricoid cartilage and the thyroid cartilage. tmpxe7fu0cj_hp_relaxed.owl cricothyroid articulation|crico-thyroid joint FMA:55101|UMLS:C0225540|NCIT:C32402 http://upload.wikimedia.org/wikipedia/commons/8/8a/Larynx_external_en.svg uberon owl:Class UBERON:0010323 biolink:NamedThing cranial skeletal system Skeletal subdivision of the head including skull (cranium plus mandible), pharyngeal and/or hyoid apparatus. tmpxe7fu0cj_hp_relaxed.owl cranium|cranial skeleton|osteocranium XAO:0003075|TAO:0000737|VSAO:0000049|AAO:0000109|ZFA:0000737|AAO:0000971|AAO:0010185 that the cranial skeleton includes the pharyngeal arch skeleton. It is thus more inclusive that the cranium itself, and extends beyond the head in tetrapods. The AAO class called 'skull' belongs here, as it includes the whole splanchnocranium we use 'cranial skeletal system', so that we can include the skull, which has joints/sutures as parts (recall, we follow FMA in distinguishing between the skeleton and skeletal system - only the latter includes joints) uberon owl:Class Bony structure that encases the central nervous system and the primary sense organs of sight, olfaction, hearing, and equilibrium.[AAO]|Skeletal system which is part of the skull, including the splanchnocranium, chondrocranium, and dermatocranium.[TAO] HP:0008229 biolink:NamedThing Thyroid lymphangiectasia The presence of lymphangiectasis of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Thyroid lymphangiectasis UMLS:C1856129 A stretching and widening of the lymphatic vessels of the thyroid gland. HP:0008235 human_phenotype owl:Class Ne5a930fea27147148277e44c8e378d8d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002014 biolink:NamedThing Kit-negative, Ly-76 high basophilic erythroblast A basophilic erythroblast that is Lyg 76-high and is Kit-negative. tmpxe7fu0cj_hp_relaxed.owl Cell surface markers are associated with mouse cells. tmeehan 2010-04-26T10:41:22Z cell owl:Class CL:0002012 biolink:NamedThing Kit-low proerythroblast A proerythoblast that is Kit-low, Lyg76-positive, and CD71-positive. tmpxe7fu0cj_hp_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-04-26T10:31:56Z cell owl:Class GO:0030004 biolink:NamedThing cellular monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations at the level of a cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:60242 biolink:NamedThing monovalent inorganic cation An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one. tmpxe7fu0cj_hp_relaxed.owl a monovalent cation chebi_ontology owl:Class N7c88f06a61e948578974e14f6697ff38 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2e4f1dfd5ba64d0abf895def7f989025 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0036285 biolink:NamedThing wall of left ventricle Wall of ventricle which is continuous with the wall of aorta. tmpxe7fu0cj_hp_relaxed.owl left ventricular wall FMA:9556 uberon owl:Class UBERON:0005147 biolink:NamedThing metanephric renal vesicle The renal vesicle is the primordial structure of the metanephric nephron epithelium, and is formed by the condensation of mesenchymal cells[GO]. tmpxe7fu0cj_hp_relaxed.owl metanephric vesicle EHDAA:9346|EHDAA2:0001245|EMAPA:27678 uberon owl:Class UBERON:0001389 biolink:NamedThing soleus muscle A deep muscle of the triceps surae group, in the superficial posterior compartment of the leg. tmpxe7fu0cj_hp_relaxed.owl soleus galen:Soleus|EFO:0001946|BTO:0001265|FMA:22542|NCIT:C53075|UMLS:C0242694|EMAPA:35786|MA:0002424 http://upload.wikimedia.org/wikipedia/commons/5/57/Illu_lower_extremity_muscles.jpg uberon owl:Class soleal responsible for plantar flexion of the foot UBERON:0001385 biolink:NamedThing tibialis anterior A muscle that originates in the upper two-thirds of the lateral surface of the tibia and inserts into the medial cuneiform and first metatarsal bones of the foot. Its acts to invert the foot. It is situated on the lateral side of the tibia; it is thick and fleshy above, tendinous below. This muscle overlaps the anterior tibial vessels and deep peroneal nerve in the upper part of the leg. [WP,unvetted]. The M. tibialis cranialis is a muscle that flexes the tarsometatarsus. It originates on the craniodistal aspect of the femur and proximal tibiotarsus and inserts on the cranial surface of the tarsometarsus[EvoWiki]. tmpxe7fu0cj_hp_relaxed.owl tibialis anterior muscle|anterior tibialis|tibilais cranialis|tibialis cranialis|ibialis anticus|musculus tibialis anterior UMLS:C1710423|EFO:0001385|EMAPA:35866|BTO:0001382|FMA:22532|galen:TibialisAnterior|MA:0002395|NCIT:C53079 http://upload.wikimedia.org/wikipedia/commons/9/9c/Gray1240.png uberon owl:Class UBERON:0002067 biolink:NamedThing dermis The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]. tmpxe7fu0cj_hp_relaxed.owl vertebrate dermis|cutis|corium XAO:0000217|SCTID:361696001|ZFA:0001119|UMLS:C0011646|MA:0000152|GAID:1321|MESH:D020405|CALOHA:TS-2076|VHOG:0000108|AAO:0000128|FMA:70323|Wikipedia:Dermis|MAT:0000153|BTO:0000294|EFO:0000953|NCIT:C12701|EV:0100154|TAO:0001119|MIAA:0000153|EMAPA:17527 http://upload.wikimedia.org/wikipedia/commons/2/23/EpidermisPainted.svg Consider adding a layer-of-skin grouping class for all skin layers uberon owl:Class A collagenous layer of the skin subjacent to the epidermis and covering the hypodermis. It contains various types of cells (e.g. fibroblasts, pigment cells, nerve, blood vessels and scales. Le Guellec et al, 2004.[TAO] When approaching controversies surrounding skin evolution, we need to remember that the skin consists of two layers, an epidermis and a dermis, not a single evolving structure. (...) It is little wonder that controversies about homology exist. If we think of the epidermis, the dermis, and their interactions as an evolving unit, then their specialized products (hair, feathers, and reptilian scales) are broadly homologous.[well established][VHOG] dermal CHEBI:45212 biolink:NamedThing diphosphate(2-) A divalent inorganic anion obtained by removal of both protons from diphosphoric acid. tmpxe7fu0cj_hp_relaxed.owl dihydrogen diphosphate|H2P2O7(2-)|PYROPHOSPHATE 2- -2 H2O7P2 InChI=1S/H4O7P2/c1-8(2,3)7-9(4,5)6/h(H2,1,2,3)(H2,4,5,6)/p-2 XPPKVPWEQAFLFU-UHFFFAOYSA-L 175.95920 175.92867 OP([O-])(=O)OP(O)([O-])=O DrugBank:DB02212|Gmelin:185085|PDBeChem:POP CHEBI:33018|CHEBI:45208 chebi_ontology owl:Class Ncc0976d7b06f456fa2f2f80b4c9575a0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb0ebc11d18ea4dd69643952e3aad2802 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0110040 biolink:NamedThing pharynx morphogenesis The process in which the anatomical structures of the pharynx are generated and organized. tmpxe7fu0cj_hp_relaxed.owl kmv 2017-07-24T20:51:28Z biological_process owl:Class GO:0050803 biolink:NamedThing regulation of synapse structure or activity Any process that modulates the physical form or the activity of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell). tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0003505 biolink:NamedThing trachea blood vessel A blood vessel that is part of a trachea. tmpxe7fu0cj_hp_relaxed.owl blood vessel of trachea EMAPA:35874|MA:0001852 UBERON:0003525 uberon owl:Class UBERON:0004243 biolink:NamedThing prostate gland smooth muscle A portion of smooth muscle tissue that is part of a prostate gland [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl prostate smooth muscle|muscular tissue of prostate|prostate smooth muscle tissue|smooth muscle tissue of prostate|prostate gland involuntary muscle|non-striated muscle of prostate|prostate gland smooth muscle tissue|non-striated muscle of prostate gland|involuntary muscle of prostate gland|prostate gland non-striated muscle|smooth muscle tissue of prostate gland|smooth muscle of prostate|prostate non-striated muscle|involuntary muscle of prostate|smooth muscle of prostate gland|prostate involuntary muscle|substantia muscularis prostatae BTO:0003159|EMAPA:35713|MA:0001741|FMA:74245 uberon owl:Class CL:1000487 biolink:NamedThing smooth muscle cell of prostate A smooth muscle cell that is part of the prostate gland. tmpxe7fu0cj_hp_relaxed.owl smooth muscle fiber of prostate FMA:84583 cell owl:Class UBERON:0006530 biolink:NamedThing seminal fluid A substance formed from the secretion of one or more glands of the male genital tract in which sperm cells are suspended. tmpxe7fu0cj_hp_relaxed.owl male genital secretion|seminal plasma|seminal fluid|male genital fluid MAT:0000057|CALOHA:TS-0918|FMA:62967|MA:0002523|EMAPA:36543|MIAA:0000057|BTO:0001232 this ontology contains a number of subtypes of seminal fluid, defined according to glands (which are more taxonomically restricted)|we follow FMA and make this class a generic superclass of the secretions of different glands (prostate, bulbo-urethreal, seminal vesicle). MA (and ncit) follows a mixture model, where these secretions are part of the seminal fluid uberon owl:Class This term covers a variety of species. Example: In D. melanogaster, seminal fluid proteins affect female receptivity, ovulation, oogenesis, sperm storage, sperm competition and mating plug formation seminal fluid may have a role in sperm capacitation, sperm motility UBERON:0000977 biolink:NamedThing pleura The invaginated serous membrane that surrounds the lungs (the visceral portion) and lines the walls of the pleural cavity (parietal portion). tmpxe7fu0cj_hp_relaxed.owl pleura|pleural tissue|wall of pleural sac EFO:0001980|GAID:360|NCIT:C12469|FMA:9583|SCTID:181609007|MA:0000433|CALOHA:TS-2081|MESH:D010994|BTO:0001791|VHOG:0000394|EMAPA:16775|Wikipedia:Pleura|UMLS:C0032225|EV:0100044|OpenCyc:Mx4rv3zwLZwpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/a/ab/Gray965.png uberon owl:Class The serous membrane that covers the lungs and lines the pleural cavity. [Kaufman_MH_and_Bard_JBL, The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.264][VHOG] pleural In MA, is_a cavity lining (which we equate to parietal). In FMA, is_a (viscous) serous membrane (which includes mesothelium plus connective tissue). Note the MA structure should probably be associated with the mesothelium of pleura in FMA. JB/EHDAA2 argues the term 'pleura' is best used for the mesothelial lining (thus excluding connective tissue). See https://github.com/obophenotype/uberon/issues/86 N3839849554304b21a7362256040d39a3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc4c60f83ff3b49589fbbb501c26c1332 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:91316 biolink:NamedThing (S)-methylsuccinic acid A 2-methylbutanedioic acid in which the methyl group at position 2 has S-configuration. tmpxe7fu0cj_hp_relaxed.owl (S)-2-methylbutanedioic acid|(2S)-2-methylbutanedioic acid 0 C5H8O4 InChI=1S/C5H8O4/c1-3(5(8)9)2-4(6)7/h3H,2H2,1H3,(H,6,7)(H,8,9)/t3-/m0/s1 WXUAQHNMJWJLTG-VKHMYHEASA-N 132.115 132.04226 OC(=O)[C@H](CC(O)=O)C Reaxys:1722948 chebi_ontology owl:Class CHEBI:91317 biolink:NamedThing (R)-methylsuccinic acid A 2-methylbutanedioic acid in which the methyl group at position 2 has R-configuration. tmpxe7fu0cj_hp_relaxed.owl (R)-2-methylbutanedioic acid|(2R)-2-methylbutanedioic acid|d-Methylsuccinic acid 0 C5H8O4 InChI=1S/C5H8O4/c1-3(5(8)9)2-4(6)7/h3H,2H2,1H3,(H,6,7)(H,8,9)/t3-/m1/s1 WXUAQHNMJWJLTG-GSVOUGTGSA-N 132.115 132.04226 OC(=O)[C@@H](CC(O)=O)C CAS:3641-51-8|Reaxys:1722947 chebi_ontology owl:Class N1e2102b387724166808b040824df8a7b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000508 biolink:NamedThing type G enteroendocrine cell An endocrine cell found in the pyloric gland mucosa (antral mucosa) of the stomach of mammals and responsible for the secretion of gastrin and enkephalin. Most abundant in pyloric antrum, pyramidal in form with a narrow apex bearing long microvilli. tmpxe7fu0cj_hp_relaxed.owl G cell FMA:67609|BTO:0004108 cell owl:Class CHEBI:16285 biolink:NamedThing phytanic acid A branched-chain saturated fatty acid consisting of hexadecanoic acid carrying methyl substituents at positions 3, 7, 11 and 15. tmpxe7fu0cj_hp_relaxed.owl 3,7,11,15-Tetramethyl-hexadecansaeure|3,7,11,15-tetramethyl-hexadecanoic acid|3,7,11,15-tetramethyl hexadecanoic acid|3,7,11,15-tetramethylhexadecanoic acid|Phytanic acid 0 C20H40O2 InChI=1S/C20H40O2/c1-16(2)9-6-10-17(3)11-7-12-18(4)13-8-14-19(5)15-20(21)22/h16-19H,6-15H2,1-5H3,(H,21,22) RLCKHJSFHOZMDR-UHFFFAOYSA-N 312.53040 312.30283 CC(C)CCCC(C)CCCC(C)CCCC(C)CC(O)=O Reaxys:1789963|PMID:17956237|PMID:12187408|KEGG:C01607|Beilstein:1789963|CAS:14721-66-5|PMID:9819701|LIPID_MAPS_instance:LMFA01020251 CHEBI:26111|CHEBI:8189 chebi_ontology owl:Class HP:0000454 biolink:NamedThing Flared nostrils tmpxe7fu0cj_hp_relaxed.owl Flared nostrils|Flared nasal alae SNOMEDCT_US:21558008|UMLS:C0277873|SNOMEDCT_US:248568003 human_phenotype owl:Class N9d72509686db4eb1b44680b9aab6f0dd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1902018 biolink:NamedThing negative regulation of cilium assembly Any process that stops, prevents or reduces the frequency, rate or extent of cilium assembly. tmpxe7fu0cj_hp_relaxed.owl inhibition of ciliogenesis|inhibition of cilium assembly|downregulation of ciliogenesis|downregulation of cilium biogenesis|inhibition of cilium biogenesis|down-regulation of cilium biogenesis|down regulation of ciliogenesis|downregulation of cilium assembly|down-regulation of ciliogenesis|down regulation of cilium assembly|negative regulation of cilium biogenesis|down-regulation of cilium assembly|down regulation of cilium biogenesis|negative regulation of ciliogenesis dph 2013-03-26T18:10:56Z biological_process owl:Class HP:0009240 biolink:NamedThing Broad distal phalanx of the 5th finger Increased width of the distal phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Broad outermost little finger bone|Broad outermost pinky finger bone|Broad outermost pinkie finger bone|Wide outermost pinky finger bone UMLS:C4024506 doelkens 2009-01-05T07:25:50Z human_phenotype owl:Class Nf31249f637fa4fdbb03db791963eeac2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1d6da67b4a2d447d899e43c644e01844 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6299af7fceb441bda2bd50bf4f617786 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011769 biolink:NamedThing Ectopic parathyroid An abnormal anatomical location of the parathyroid gland. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023196 peter 2012-04-22T04:22:26Z human_phenotype owl:Class N6256a0222878436ca857d080d18999b5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0031345 biolink:NamedThing negative regulation of cell projection organization Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. tmpxe7fu0cj_hp_relaxed.owl down-regulation of cell projection organization|negative regulation of cell projection organization and biogenesis|inhibition of cell projection organization|downregulation of cell projection organization|negative regulation of cell projection organisation|down regulation of cell projection organization biological_process owl:Class GO:0072132 biolink:NamedThing mesenchyme morphogenesis The process in which the anatomical structures of a mesenchymal tissue are generated and organized. A mesenchymal tissue is made up of loosely packed stellate cells. tmpxe7fu0cj_hp_relaxed.owl mah 2010-02-22T02:17:15Z biological_process owl:Class UBERON:0015791 biolink:NamedThing digit connective tissue A portion of connective tissue that is part of a digit. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37290|MA:0003123 uberon owl:Class HP:0002553 biolink:NamedThing Highly arched eyebrow Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. tmpxe7fu0cj_hp_relaxed.owl High, rounded eyebrows|Arched eyebrows|Thick, flared eyebrows|Bowed and upward slanting eyebrows|Broad, arched eyebrows|High arched eyebrows|Highly arched eyebrow|High-arched eyebrows UMLS:C4020849|UMLS:C1868571 Most eyebrows have some arch with downturning medially and laterally. HP:0008505|HP:0004533|HP:0007804|HP:0001584|HP:0007681 human_phenotype owl:Class Neb0cdd140679464daf696a71576fca42 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:2000472 biolink:NamedThing negative regulation of hematopoietic stem cell migration Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic stem cell migration. tmpxe7fu0cj_hp_relaxed.owl negative regulation of hemopoietic stem cell migration bf 2011-03-09T09:34:54Z biological_process owl:Class GO:0035701 biolink:NamedThing hematopoietic stem cell migration The orderly movement of a hematopoietic stem cell from one site to another. A hematopoietic stem cell is a cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. tmpxe7fu0cj_hp_relaxed.owl hemopoietic stem cell migration bf 2011-02-28T03:20:36Z biological_process owl:Class PATO:0001297 biolink:NamedThing reflectivity tmpxe7fu0cj_hp_relaxed.owl owl:Class PATO:0001697 biolink:NamedThing decreased photosensitivity A photosensitivity which is relatively low. tmpxe7fu0cj_hp_relaxed.owl low photosensitivity quality owl:Class UBERON:0000985 biolink:NamedThing axillary vein Vein that drains the axilla. tmpxe7fu0cj_hp_relaxed.owl subcostal vein|vena axillaris GAID:527|OpenCyc:Mx4rwLSHK5wpEbGdrcN5Y29ycA|NCIT:C32171|galen:AxillaryVein|EMAPA:18758|MA:0002084|UMLS:C0004456|FMA:13329|MESH:D001367 http://upload.wikimedia.org/wikipedia/commons/e/e9/Gray576.png uberon owl:Class In human anatomy, the axillary vein is a large blood vessel that conveys blood from the lateral aspect of the thorax, axilla (armpit) and upper limb toward the heart. There is one axillary vein on each side of the body. Its origin is at the lower margin of the teres major muscle and a continuation of the brachial vein. Its tributaries include the basilic vein and cephalic vein, which are both superficial veins. It terminates at the lateral margin of the first rib, at which it becomes the subclavian vein. It is accompanied along its course by a similarly named artery, the axillary artery GO:0007389 biolink:NamedThing pattern specification process Any developmental process that results in the creation of defined areas or spaces within an organism to which cells respond and eventually are instructed to differentiate. tmpxe7fu0cj_hp_relaxed.owl pattern formation|pattern biosynthesis biological_process owl:Class GO:0006903 biolink:NamedThing vesicle targeting The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009881 biolink:NamedThing Aplasia of the distal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Aplasia of outermost hand bone|Absent outermost hand bone|Absent distal phalanges of the hand UMLS:C4024173 doelkens 2009-04-24T04:29:30Z human_phenotype owl:Class N9d07f2bdc7dd4820bcc24054e5646ff8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1e6f4c7e0bf64682b9d49692224b0638 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010224 biolink:NamedThing right pupil A pupil that is part of a right eye. tmpxe7fu0cj_hp_relaxed.owl pupil of right eye FMA:58253 uberon owl:Class UBERON:0004549 biolink:NamedThing right eye An eye that is part of a right side of organism [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl right orbital region|right orbital part of face|right eyeball EMAPA:37363|FMA:12514|MA:0002950|NCIT:C119333|SCTID:362502000 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern HP:0011456 biolink:NamedThing Absent stapes Aplasia of the stapes. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:300178009|UMLS:C0576909 peter 2012-03-19T09:42:52Z human_phenotype owl:Class N1249271ed80d4fe49f2a0fc7cb4acac7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060325 biolink:NamedThing face morphogenesis The process in which the anatomical structures of the face are generated and organized. The face is the ventral division of the head. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0013688 biolink:NamedThing tonsil germinal center A germinal center that is part of a tonsil. tmpxe7fu0cj_hp_relaxed.owl tonsil reaction center CALOHA:TS-1288 consider adding related terms, e.g. secondary lymphoid tissue of tonsil uberon owl:Class The germinal center or reaction center is the activated center of a lymphoid follicle in secondary lymphoid tissue where B-lymphocytes are stimulated by antigens and helper T cells (T-lymphocytes, helper-inducer) are stimulated to generate memory cells. Here, the germinal center of a tonsil[TS-1288]. CL:0002482 biolink:NamedThing dermal melanocyte A melanocyte that produces pigment in the dermis. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2010-12-03T03:17:05Z cell owl:Class GO:0035935 biolink:NamedThing androgen secretion The regulated release of an androgen into the circulatory system. Androgens are steroid hormones that stimulate or control the development and maintenance of masculine characteristics in vertebrates. tmpxe7fu0cj_hp_relaxed.owl bf 2011-07-20T01:11:31Z biological_process owl:Class HP:0011301 biolink:NamedThing Absent foot The total absence of the foot, with no bony elements distal to the tibia or fibula. tmpxe7fu0cj_hp_relaxed.owl Absent foot|Aplasia of the foot|Apodia SNOMEDCT_US:371197005|UMLS:C0265624 hecht 2012-02-11T11:20:59Z human_phenotype owl:Class N063cd9d009f74f6e902928b55d13d9a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:32525 biolink:NamedThing Theria tmpxe7fu0cj_hp_relaxed.owl Theria GC_ID:1 ncbi_taxonomy owl:Class Nd553998fe66b47999fc5aba6ff679678 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009899 biolink:NamedThing Prominent crus of helix The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix. tmpxe7fu0cj_hp_relaxed.owl Helix, crus, prominent|Hypertrophic helix crus|Hyperplastic helix crus|Abnormal prominence of the crus of the ear UMLS:C4021377 peter 2009-04-30T10:38:06Z human_phenotype owl:Class Nc05a5e5f1f9040699fdd097517586c99 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N03dd53f868ff4fb08010a761aab30a15 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N07368f87099d4dad96440a4bf04b864e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015454 biolink:NamedThing pancreatic fat pad A fat pad that is part of a pancreas. tmpxe7fu0cj_hp_relaxed.owl MA:0003029 uberon owl:Class HP:0003351 biolink:NamedThing Decreased circulating renin level An decreased level of renin in the blood. tmpxe7fu0cj_hp_relaxed.owl Suppressed plasma renin activity|Decreased plasma renin activity|Low plasma renin activity UMLS:C1845206 HP:0003263 human_phenotype owl:Class N08d88bf2b55b4ac99a6c94f2e1da7452 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:3000021 biolink:NamedThing Abnormality of buccal fat pad An abnormality of a buccal fat pad. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073230 vasilevs 2015-08-07T00:15:49Z human_phenotype owl:Class N33d23673faee4689905e41d29ebd5709 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9a6651f44cde4e06ab470c46aa7219e4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006603 biolink:NamedThing presumptive mesoderm Presumptive structure of the blastula that will develop into mesoderm. tmpxe7fu0cj_hp_relaxed.owl TAO:0001377|EFO:0003467|ZFA:0001377|AAO:0000476 uberon owl:Class UBERON:0004128 biolink:NamedThing optic vesicle The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup[GO]. Portion of tissue that is comprised of neuroepitheium which has pinched off from the anterior neural keel and will form the optic cup[ZFA]. tmpxe7fu0cj_hp_relaxed.owl optic vesicles|eye vesicle|ocular vesicle|evagination VHOG:0000165|SCTID:362864008|NCIT:C34236|ZFA:0000050|EHDAA2:0001320|XAO:0000228|UMLS:C0231106|Wikipedia:Optic_vesicles|AAO:0011039|FMA:293357|EMAPA:16540|TAO:0000050 Genes: Six3, Pax6, Rx1 are expressed together in the tip of the neural plate [ISBN:9780878932504 "Developmental Biology"]. Development notes: During subsequent develop- ment, the optic vesicle invaginates and becomes a two-layered structure with an inner neural retina and outer retinal pigment epithelium. As soon as the developing optic vesicle makes contact with the overlying ectoderm, it induces the ectoderm to thicken and form the lens placode [PMID:16496288] http://upload.wikimedia.org/wikipedia/commons/e/e0/Gray863.png uberon owl:Class (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles.[well established][VHOG] UBERON:0004880 biolink:NamedThing chordamesoderm The central region of trunk mesoderm. This tissue forms the notochord. tmpxe7fu0cj_hp_relaxed.owl dorsal mesoderm|presumptive notochord|axial chorda mesoderm|chorda mesoderm ZFA:0000091|TAO:0000091|EFO:0003426|AAO:0000478 uberon owl:Class Notochord rudiment[ZFIN:ZDB-PUB-961014-576]. WP treats this as synonym of axial mesoderm. Induces neural tube. Gilbert: contains an anterior head process and the notochord. GO:0060419 biolink:NamedThing heart growth The increase in size or mass of the heart. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N4661210c349546f7a3b6e523e72173dd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008594 biolink:NamedThing zygomaticus minor muscle Facial muscle attached to the modiolus, corner (angle) of the mouth, and zygomatic bone. This muscle is ventral to the zygomaticus minor and dorsal to the platysma muscle. In many mammals this muscle also has an attachment to the cartilage of the external ear, in which case it is called the auriculolabialis inferior. See Diogo 2008; Diogo et al., 2009; Burrows et al.., 2011., also DuBrul, 1980. tmpxe7fu0cj_hp_relaxed.owl musculus quadratus labii superioris, zygomatic head|auriculolabialis superior|square muscle of the upper lip, zygomatic head|musculus zygomaticus minor FMA:46811|UMLS:C0224116|NCIT:C53184|MFMO:0000137 http://upload.wikimedia.org/wikipedia/commons/4/46/Musculuszygomaticusminor.png uberon owl:Class UBERON:0011386 biolink:NamedThing facial modiolus A chiasma of facial muscles held together by fibrous tissue, located lateral and slightly superior to each angle of the mouth. It is important in moving the mouth, facial expression and in dentistry. It derives its motor nerve supply from the facial nerve, and its blood supply from labial branches of the facial artery. It is contributed to by the following muscles: orbicularis oris, buccinator, levator anguli oris, depressor anguli oris, zygomaticus major, risorius quadratus labii superioris, quadratus labii inferioris. tmpxe7fu0cj_hp_relaxed.owl modiolus anguli oris|modiolus FMA:46837|MFMO:0000057 uberon https://github.com/obophenotype/uberon/issues/471 owl:Class Nb59751ba1f31487598024ff63fb47d91 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003103 biolink:NamedThing compound organ Anatomical structure that has as its parts two or more multi-tissue structures of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona fide boundaries from other distinct anatomical structures of different types. tmpxe7fu0cj_hp_relaxed.owl organ TGMA:0001837|EHDAA2:0003024|XAO:0003041|AAO:0010015|HAO:0000024|BILA:0000024|CARO:0000024|TAO:0000496|ZFA:0000496|TADS:0000598|AEO:0000024|VHOG:0001723 this class was introduced for consistency with CARO. However, in this ontology we typically classify organs directly under 'organ' rather than subdividing into compound and simple organs uberon owl:Class UBERON:0000320 biolink:NamedThing duodenal mucosa A mucosa that is part of a duodenum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl doudenal mucosa|mucosa of duodenum|duodenal mucous membrane|mucous membrane of duodenum|duodenum mucosa CALOHA:TS-0213|MA:0003207|EMAPA:27235|FMA:14942|BTO:0000367 UBERON:0003348 uberon owl:Class N9f5374585a844adb873ba8285e463252 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007288 biolink:NamedThing presumptive forebrain midbrain boundary A presumptive structure that has the potential to develop into a forebrain-midbrain boundary. tmpxe7fu0cj_hp_relaxed.owl TAO:0001368|EFO:0003463|ZFA:0001368 uberon owl:Class UBERON:0004253 biolink:NamedThing skin muscle Any muscle organ that is part of a skin of body [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscle organ of skin|muscle of integumental system|skin muscle organ|integumental system muscle MA:0003139|EMAPA:18187|MA:0002710|EMAPA:35776 review as part of general integumentary system review - part of skin, or more generally, integumental system UBERON:0015797 uberon owl:Class in MA, the only skin muscle is arrector pili. The only integumental muscle is panniculus carnosus. In EMAPA, the arrector pili only UBERON:0006233 biolink:NamedThing female genital tubercle A differentiated genital tubercle that is part of a female reproductive system. tmpxe7fu0cj_hp_relaxed.owl genital tubercle of female RETIRED_EHDAA2:0000500|EHDAA:8118|VHOG:0000666|EMAPA:18680 uberon owl:Class GO:0060037 biolink:NamedThing pharyngeal system development The process whose specific outcome is the progression of the pharyngeal system over time, from its formation to the mature structure. The pharyngeal system is a transient embryonic complex that is specific to vertebrates. It comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming: the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009900 biolink:NamedThing Unilateral deafness A unilateral absence of sensory perception of sound. tmpxe7fu0cj_hp_relaxed.owl Deafness, unilateral|Deafness in one ear MSH:D046088|UMLS:C2607947|SNOMEDCT_US:162342008 Deafness affecting only one ear. peter 2009-04-30T10:42:23Z human_phenotype owl:Class Nbff7d1df125e41fba864c8c1423244e1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005715 biolink:NamedThing Flattened knee epiphyses tmpxe7fu0cj_hp_relaxed.owl Flattened end part of knee bone UMLS:C4025150 human_phenotype owl:Class Ne3be8a84017b47c584c60d51c6319d92 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000203 biolink:NamedThing pallium Dorsal part (roof region) of the telencephalon[GO]. tmpxe7fu0cj_hp_relaxed.owl dorsal part of telencephalon|area dorsalis telencephali|dorsal telencephalon|dorsal telencephalic area Wikipedia:Avian_pallium|EFO:0003534|BTO:0003399|DMBA:15903|ZFA:0000505|TAO:0007007|SCTID:369224000|TAO:0000505|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=3240|Wikipedia:Pallium_(neuroanatomy) cjm 2009-04-18T12:03:09Z UBERON:0007333 uberon https://sourceforge.net/p/obo/zebrafish-anatomy-zfa-term-requests/87 owl:Class In the anatomy of animals, an avian pallium is the dorsal telencephalon of a bird's brain. Pallium of avian species tend to be relatively large, comprising ~75% of the telencephalic volume. In humans the cerebrum has three parts: the archipallium, the paleopallium and the neopallium. The developing telencephalon or forebrain is divided into pallium and subpallium. In amphibians, the cerebrum includes archipallium, paleopallium and some of the basal nuclei. Reptiles first developed a neopallium, which continued to develop in the brains of more recent species to become the neocortex of humans and Old World monkeys. In fish, the archipallium is the largest part of the cerebrum. Some researchers suggest the early archipallium gave rise to the human hippocampus UBERON:0005325 biolink:NamedThing mesonephric glomerulus The mesonephric glomerulus is a capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the mature vertebrate kidney, or mesonephros[GO]. tmpxe7fu0cj_hp_relaxed.owl glomerulus EMAPA:30568|VHOG:0001238|XAO:0000146|AAO:0010388 uberon owl:Class A tuft of capillaries found in a Bowman's capsule in which waste products are filtered from the blood and urine formation is initiated.[AAO] In animals in which the mesonephros is the terminal kidney, such as amphibians and fish, the final organ is very complex, containing a large number of nephrons, most of which have an internal glomerulus.[well established][VHOG] XAO/AAO class belongs here, as it refers to mesonephric structure CHEBI:16004 biolink:NamedThing (R)-lactate An optically active form of lactate having (R)-configuration. tmpxe7fu0cj_hp_relaxed.owl (R)-lactate|(2R)-2-hydroxypropanoate|D-2-hydroxypropionate|D-2-hydroxypropanoate|D-lactate -1 C3H5O3 InChI=1S/C3H6O3/c1-2(4)3(5)6/h2,4H,1H3,(H,5,6)/p-1/t2-/m1/s1 JVTAAEKCZFNVCJ-UWTATZPHSA-M 89.07000 89.02442 C[C@@H](O)C([O-])=O KEGG:C00256|MetaCyc:D-LACTATE|Reaxys:4655978|Gmelin:362716|Beilstein:4655978 CHEBI:11001|CHEBI:18684 chebi_ontology owl:Class CHEBI:42111 biolink:NamedThing (R)-lactic acid An optically active form of lactic acid having (R)-configuration. tmpxe7fu0cj_hp_relaxed.owl (2R)-2-hydroxypropanoic acid|(R)-(-)-lactic acid|D-Milchsaeure|D-Lactic acid|D-2-Hydroxypropionic acid|D-2-Hydroxypropanoic acid|D-lactic acid|LACTIC ACID|(-)-lactic acid 0 C3H6O3 InChI=1S/C3H6O3/c1-2(4)3(5)6/h2,4H,1H3,(H,5,6)/t2-/m1/s1 JVTAAEKCZFNVCJ-UWTATZPHSA-N 90.07794 90.03169 C[C@@H](O)C(O)=O DrugBank:DB03066|KNApSAcK:C00019549|Wikipedia:Lactic_acid|PMID:22277286|CAS:10326-41-7|HMDB:HMDB0001311|Beilstein:1720252|PDBeChem:LAC|Reaxys:1720252|Gmelin:362718|PMID:22127808|PMID:22344644|PMID:21842515|DrugBank:DB04398|KEGG:C00256 CHEBI:43701|CHEBI:341|CHEBI:42105 chebi_ontology owl:Class CHEBI:46912 biolink:NamedThing ornithinium(1+) tmpxe7fu0cj_hp_relaxed.owl ornithinium(1+)|2,5-diammoniopentanoate|ornithine monocation|ornithinium +1 C5H13N2O2 InChI=1S/C5H12N2O2/c6-3-1-2-4(7)5(8)9/h4H,1-3,6-7H2,(H,8,9)/p+1 AHLPHDHHMVZTML-UHFFFAOYSA-O 133.16900 133.09715 [NH3+]CCCC([NH3+])C([O-])=O chebi_ontology owl:Class UBERON:0035884 biolink:NamedThing maxillary-premaxillary suture A suture between the maxilla and premaxilla. tmpxe7fu0cj_hp_relaxed.owl maxillary-premaxillary incisive suture|incisive suture|premaxillary suture uberon owl:Class present in mouse [PMID:21538817]|transient in humans N421c7731e0d34a0a82519724815704c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006937 biolink:NamedThing inner ear epithelium The epithelial cell layer containing the sensory hair cells and their associated sensory nerve terminals. tmpxe7fu0cj_hp_relaxed.owl EMAPA:32883|MA:0001189 uberon owl:Class UBERON:0001846 biolink:NamedThing internal ear Complex labyrinthine structure that comprises sensory endorgans specialized for vestibular, auditory, and acoustico-vestibular sensation. tmpxe7fu0cj_hp_relaxed.owl inner ear|otocyst|auris interna|labyrinth FMA:60909|EHDAA2:0000831|EFO:0001363|BTO:0000630|CALOHA:TS-0478|MAT:0000145|ZFA:0000217|EMAPA:16194|EV:0100361|UMLS:C1268973|MIAA:0000145|XAO:0000192|MA:0000237|NCIT:C12499|TAO:0000217|VHOG:0000284|galen:InnerEar|EHDAA:504|MESH:D007758|GAID:871|UMLS:C0022889|AAO:0000238|OpenCyc:Mx4rwJ8SsJwpEbGdrcN5Y29ycA|BIRNLEX:1196 http://upload.wikimedia.org/wikipedia/commons/1/19/Gray923.png uberon owl:Class The auditory (hearing) and vestibular (balance) organ of the fish, equivalent to the inner ear of amniotes. (See Anatomical Atlas entry for ear by T. Whitfield.)[TAO] The labyrinth, or inner ear, evolved very early in vertebrate history and, with many variations in configuration but none of basic design and function, has been retained by all vertebrates.[well established][VHOG] Nd647b40233b94eed817cd62b0d73d2c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0048581 biolink:NamedThing negative regulation of post-embryonic development Any process that stops, prevents, or reduces the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. tmpxe7fu0cj_hp_relaxed.owl down regulation of post-embryonic development|downregulation of post-embryonic development|inhibition of post-embryonic development|down-regulation of post-embryonic development biological_process owl:Class GO:0009791 biolink:NamedThing post-embryonic development The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N17028fb0f6a843368c0c6ba825876e15 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011892 biolink:NamedThing anterior uvea Front (ventral) portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris. tmpxe7fu0cj_hp_relaxed.owl ciliary body and iris|anterior vascular tunic of the eye|anterior part of uveal tract|vasculosa oculi|Haller tunica vascula|ventral uveal tract|tunica vasculosa bulbosa|anterior uveal tract|anterior vascular layer of the eyeball EMAPA:37417|SCTID:280656002 uberon owl:Class CHEBI:33744 biolink:NamedThing iron group molecular entity tmpxe7fu0cj_hp_relaxed.owl iron group molecular entity|iron group molecular entities chebi_ontology owl:Class UBERON:0005653 biolink:NamedThing upper jaw molar epithelium A dental epithelium that is part of a upper jaw molar. tmpxe7fu0cj_hp_relaxed.owl EMAPA:17943|EHDAA2:0002126 uberon owl:Class GO:0099531 biolink:NamedThing presynaptic process involved in chemical synaptic transmission The pathway leading to secretion of a neurotransmitter from the presynapse as part of synaptic transmission. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CL:0000906 biolink:NamedThing activated CD8-positive, alpha-beta T cell A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, CD25-positive, and CCR7-negative. tmpxe7fu0cj_hp_relaxed.owl activated CD8-positive, alpha-beta T-cell|activated CD8-positive, alpha-beta T lymphocyte|activated CD8-positive, alpha-beta T-lymphocyte cell owl:Class N0371e796617e49ca854a61248b7a72a4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000592 biolink:NamedThing Blue sclerae An abnormal bluish coloration of the sclera. tmpxe7fu0cj_hp_relaxed.owl Whites of eyes are a bluish-gray color|Bluish sclerae|Whites of eyes are a bluish-gray colour|Blue sclera|Blue outer white part of eyeball UMLS:C0542514|SNOMEDCT_US:204164000 human_phenotype owl:Class N749cfb3d089341f692c342a0cb005064 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1feb790bf0f64b47b91fbe8468d80198 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5c7ca7d0650d49c9858705c87fd15345 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nba1626d0bbd64d4ca07a45f5e886e982 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb16f788e846847ddb455a8f63bbec9a0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012180 biolink:NamedThing head or neck skin A zone of skin that is part of a craniocervical region. tmpxe7fu0cj_hp_relaxed.owl NCIT:C12294|UMLS:C1522650|MA:0000574|EMAPA:37276 uberon owl:Class N6d364e1e33de44c68658a1fee0a9176c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002407 biolink:NamedThing pericardium The combination of pericardial sac (a double-walled sac containing the heart and the roots of the great vessels) plus fibrous pericardium. tmpxe7fu0cj_hp_relaxed.owl BTO:0000717|CALOHA:TS-0761|RETIRED_EHDAA2:0001443|AAO:0010817|XAO:0004182|MESH:D010496|UMLS:C0031050|MAT:0000454|EHDAA:5376|GAID:569|TAO:0000054|ZFA:0000054|VHOG:0001280|SCTID:181295003|EV:0100023|OpenCyc:Mx4rvoCLgJwpEbGdrcN5Y29ycA|MA:0000099|EFO:0000820|BSA:0000090|FMA:9869|galen:Pericardium|Wikipedia:Pericardium|EMAPA:16133|NCIT:C13005 http://upload.wikimedia.org/wikipedia/commons/7/7e/Gray489.png uberon owl:Class Peritoneum that surrounds the heart.[AAO] pericardial this class denotes a combination of fibrous PC + PC sac (itself a combination of cavity, epithelium and connective tissue). Many sources use the term 'pericardium' to denote either just the serous membrane (ZFA) or the epithelium (GO)|we follow FMA in dividing pericardium into pericardial sac and fibrous pericardium|In GO the concept of pericardium is developmental implicitly epithelial, but here it represents a multi-tissue structure encompassing the sac (epithelium plus connective) and cavity HP:0045074 biolink:NamedThing Thin eyebrow Decreased diameter of eyebrow hairs. tmpxe7fu0cj_hp_relaxed.owl Thin eyebrow|Thin eyebrows HPO:skoehler owl:Class Na9e1e1c6c3234106911fd3da33c15e00 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012331 biolink:NamedThing Abnormal autonomic nervous system morphology A structural abnormality of the autonomic nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022953 peter 2013-09-13T07:52:31Z human_phenotype owl:Class N637bd96e76ef4bf5a883305cad17a869 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002291 biolink:NamedThing central canal of spinal cord Spinal cord structure that is part of the ventricular system and is filled with cerebral-spinal fluid and runs the length of the spinal cord. tmpxe7fu0cj_hp_relaxed.owl central canal, spinal cord/medulla|ventricle of spinal cord|central canal|canalis centralis|central canal of spinal cord|spinal cord central canal MA:0001117|EHDAA2:0004361|MBA:164|NCIT:C12891|UMLS:C0459414|DHBA:146035108|EMAPA:35789|BAMS:CC|ZFA:0000938|BIRNLEX:1409|DMBA:126652042|BAMS:C|FMA:78497|TAO:0000938|HBA:9422 previously mapped to FMA:75364. Note some ontologies (NIF, SNOMED) subdivide this into lumbar, thoracic, etc. Note we follow FMA in distinguishing between the canal and the lumen http://upload.wikimedia.org/wikipedia/commons/d/dc/Medulla_spinalis_-_Section_-_English.svg UBERON:0002220 uberon owl:Class HP:0009170 biolink:NamedThing Osteolytic defects of the middle phalanx of the 5th finger Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024559 peter 2008-12-29T02:51:32Z human_phenotype owl:Class N2facbe27dd3447db8401b16a0561de10 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0006584 biolink:NamedThing catecholamine metabolic process The chemical reactions and pathways involving any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpxe7fu0cj_hp_relaxed.owl catecholamine metabolism biological_process owl:Class Nde7b402577bc46fbacfd5e8c2536f05d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd26aaffa0ad44e2dbb71c873d7b23949 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:30861 biolink:NamedThing methylmalonate(1-) A dicarboxylic acid monoanion resulting from the removal of a proton from one of the carboxylic acid groups of methylmalonic acid. tmpxe7fu0cj_hp_relaxed.owl 2-carboxypropanoate -1 C4H5O4 InChI=1S/C4H6O4/c1-2(3(5)6)4(7)8/h2H,1H3,(H,5,6)(H,7,8)/p-1 ZIYVHBGGAOATLY-UHFFFAOYSA-M 117.08010 117.01933 CC(C(O)=O)C([O-])=O Gmelin:142213|Reaxys:5499681|Beilstein:5499681 chebi_ontology owl:Class UBERON:0018599 biolink:NamedThing upper second primary molar tooth tmpxe7fu0cj_hp_relaxed.owl upper second deciduous molar tooth|upper primary tooth E FMA:84236 TODO - tooth numbering nomeculature to be aligned across species uberon owl:Class HP:0010091 biolink:NamedThing Symphalangism affecting the proximal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Fused innermost bone of big toe UMLS:C4024056 doelkens 2009-05-29T12:17:16Z human_phenotype owl:Class N685d6d113c894bb6a997c0ff7f8a65df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006761 biolink:NamedThing corneo-scleral junction The edge of the cornea where it joins the sclera; the limbus is a common site for the occurrence of corneal epithelial neoplasm. tmpxe7fu0cj_hp_relaxed.owl limbus corneae|corneoscleral junction|corneal limbus|corneal-scleral limbus|cornea limbus|sclerocorneal junction|sclerocorneal limbus FMA:58342|EFO:0001403|MESH:D016850|ZFA:0005570|SCTID:63716004|GAID:896|Wikipedia:Corneal_limbus|EMAPA:37835 This location has parts such as blood vessels etc. See PMC2868485, http://www.ncbi.nlm.nih.gov/pubmed/2695343 http://upload.wikimedia.org/wikipedia/commons/3/3d/Limbus.png uberon owl:Class PATO:0001987 biolink:NamedThing saccular A structural quality inhering in a bearer by virtue of the bearer's having a three dimensional cavity with a narrow or no opening, and often containing an anatomical substance. tmpxe7fu0cj_hp_relaxed.owl sacular quality owl:Class UBERON:0002207 biolink:NamedThing xiphoid process A cartilaginous extension to the distal part of the sternum. tmpxe7fu0cj_hp_relaxed.owl xiphoid|xiphoid process of sternum|metasternum|xiphoid process|xyphoid|xiphisternum|xiphoideus|processus xiphoideus|xiphosternal junction NCIT:C33895|UMLS:C0043356|MA:0001334|EMAPA:18725|FMA:7488 this class may represent a mixed bony-cartilage element, or it may be the superclass of either purely cartilage or purely ossified elements http://upload.wikimedia.org/wikipedia/commons/4/4d/Gray117.png uberon owl:Class usually ossified in the adult human. By age 15 to 29, the xiphoid usually fuses to the body of the sternum with a fibrous joint. Unlike the synovial articulation of major joints, this is non-movable. Much the way the first seven ribs articulate with the sternum, the cartilage in the celiac plexus joins on the xiphoid process, reinforcing it, and indirectly attaches the costal cartilage to the sternum. UBERON:0035133 biolink:NamedThing longitudinal arch of pes A curved region of the skeleton of the pes (foot) formed by the tarsal and metatarsal bones. tmpxe7fu0cj_hp_relaxed.owl longitudinal arch of foot FMA:75030 uberon owl:Class in FMA this is modeled as an anatomical line, here we model as an actual subdivision of the skeletal system, containing a row of bones as parts, arranged in a particular configuration PATO:0001594 biolink:NamedThing arched A concave quality inhering in a bearer by virtue of the bearer's forming or resembling an arch. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:0001906 biolink:NamedThing cell killing Any process in an organism that results in the killing of its own cells or those of another organism, including in some cases the death of the other organism. Killing here refers to the induction of death in one cell by another cell, not cell-autonomous death due to internal or other environmental conditions. tmpxe7fu0cj_hp_relaxed.owl necrosis biological_process owl:Class N4cde63eddab14b93ad0d563fe5cae951 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001470 biolink:NamedThing glenohumeral joint The glenohumeral joint, commonly known as the shoulder joint, is a multiaxial synovial ball and socket joint and involves articulation between the glenoid fossa of the scapula (shoulder blade) and the head of the humerus (upper arm bone). [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl articulatio humeri|shoulder joint|humeral joint|humeroscapular joint|joint of shoulder OpenCyc:Mx4rwP32BZwpEbGdrcN5Y29ycA|VHOG:0001002|EMAPA:19105|MESH:D012785|MA:0000459|NCIT:C33548|GAID:269|FMA:25912|UMLS:C0037009|galen:ShoulderJoint http://upload.wikimedia.org/wikipedia/commons/a/a3/Gray327.png note that in this ontology 'glenoid fossa' is a cavity (consistent with FMA) - consider adding a class for the surface of the scapula that is adjacent to this cavity, and making a more explicit connects relationship uberon owl:Class in FMA, this is part of the bony pectoral girdle, alongside the skeleton of pectoral girdle UBERON:0001467 biolink:NamedThing shoulder A subdivision of the pectoral complex consisting of the structures in the region of the shoulder joint (which connects the humerus, scapula and clavicle). tmpxe7fu0cj_hp_relaxed.owl shoulder region|articulatio humeri GAID:60|EHDAA:4180|EFO:0003068|MA:0000038|FMA:25202|VHOG:0000342|UMLS:C0037004|OpenCyc:Mx4rvViCM5wpEbGdrcN5Y29ycA|NCIT:C25203|MESH:D012782|EHDAA2:0001834|CALOHA:TS-2229|EHDAA:6228|EMAPA:17421|galen:Shoulder http://upload.wikimedia.org/wikipedia/commons/9/90/Shoulderjoint.PNG uberon owl:Class (...) endochondral elements of the early tetrapod shoulder develop from two centers of ossification, giving rise to a scapula and a 'coracoid'.[well established][VHOG] In FMA, the shoulder is part of the pectoral girdle region. in MA, shoulder structures like shoulder joints, bones, nerves etc are part of the shoulder and the forelimb. E.g. humerus is a shoulder bone HP:0005510 biolink:NamedThing Transient erythroblastopenia A transient reduction in the number of erythroblasts in the circulation. tmpxe7fu0cj_hp_relaxed.owl Transient decrease in blood erythrocyte number UMLS:C4082199 An erythroblast, the immediate precursor of a normal erythrocyte which, still retains a cell nucleus. human_phenotype owl:Class N999a486b4b2649d78e7bfb54f1c5436e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:28694 biolink:NamedThing copper atom tmpxe7fu0cj_hp_relaxed.owl Kupfer|29Cu|Copper|cobre|copper|Cu|cuprum|cuivre 0 Cu InChI=1S/Cu RYGMFSIKBFXOCR-UHFFFAOYSA-N 63.54600 62.92960 [Cu] CAS:7440-50-8|WebElements:Cu|Gmelin:16269|KEGG:C00070 CHEBI:23376|CHEBI:3874 chebi_ontology owl:Class CHEBI:27027 biolink:NamedThing micronutrient Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions. tmpxe7fu0cj_hp_relaxed.owl micronutrients|trace elements Wikipedia:Micronutrient chebi_ontology owl:Class UBERON:0007722 biolink:NamedThing interphalangeal joint of manus The interphalangeal articulations of hand are hinge-joints of the phalanges of the hand. There are two sets (except in the thumb): 'proximal interphalangeal joints' (PIP), those between the first (also called proximal) and second (intermediate) phalanges 'distal interphalangeal joints' (DIP), those between the second and third (distal) phalanges A similar group of articulations also function in the toes. tmpxe7fu0cj_hp_relaxed.owl interphalangeal joint of hand|articulationes interphalangeae manus|IP joint|articulations of the digits|articulationes digitorum manus|interphalangeal articulations of hand|interphalangeal joints of hand|interphalangeal joint of finger UMLS:C0016125|EMAPA:36336|FMA:35285|NCIT:C32868 consider renaming: 'finger' is ambiguous as the term in some usages excludes the thumb (we include it) uberon owl:Class GO:0007417 biolink:NamedThing central nervous system development The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. tmpxe7fu0cj_hp_relaxed.owl CNS development Wikipedia:Neural_development biological_process owl:Class GO:0099501 biolink:NamedThing exocytic vesicle membrane The lipid bilayer surrounding an exocytic vesicle. tmpxe7fu0cj_hp_relaxed.owl secretory vesicle membrane cellular_component owl:Class N17bbf26721bd4109a80a8b8e2f73261f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001801 biolink:NamedThing anterior segment of eyeball Any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive). tmpxe7fu0cj_hp_relaxed.owl anterior eye segment|anterior segment of the eye|eye anterior segment|anterior segment of eye|segmentum anterius bulbi oculi|anterior segment eye|segmentum anterius (bulbus oculi) UMLS:C0003153|Wikipedia:Anterior_segment_of_eyeball|EMAPA:36594|MA:0002484|MESH:D000869|ZFA:0005566|NCIT:C12668|FMA:58865|SCTID:280658001 http://upload.wikimedia.org/wikipedia/commons/b/ba/Cataract_in_human_eye.png uberon owl:Class N83a2c49358624ac3aad09b19af3dba58 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001764 biolink:NamedThing maxillary sinus One of the paired paranasal sinuses, located in the body of the maxilla, communicating with the middle meatus of the nasal cavity. tmpxe7fu0cj_hp_relaxed.owl antrum of Highmore|sinus maxilliaris|maxillary antrum|Highmore antrum MESH:D008443|FMA:57715|OpenCyc:Mx4rvp2ZWJwpEbGdrcN5Y29ycA|UMLS:C0024957|NCIT:C12275|GAID:358|CALOHA:TS-2231|MA:0001794 http://upload.wikimedia.org/wikipedia/commons/3/3d/Gray1199.png uberon owl:Class N53ff0f7c590940f8bd92505b9e7560ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060048 biolink:NamedThing cardiac muscle contraction Muscle contraction of cardiac muscle tissue. tmpxe7fu0cj_hp_relaxed.owl heart muscle contraction biological_process owl:Class UBERON:0013771 biolink:NamedThing line connecting laterally paired nipples Line across midline connecting a left and right nipples. tmpxe7fu0cj_hp_relaxed.owl intermammary line uberon owl:Class In mammals with multiple pairs of nipples, this line is only applicable for laterally homologous nipples HP:0410278 biolink:NamedThing Pituitary gland cyst A fluid-filled sacs that develop on or near the pituitary gland. tmpxe7fu0cj_hp_relaxed.owl Cyst of the pituitary gland 2018-10-30 19:49:29+00:00 owl:Class N940514ffc7a244a8abdce6fcde48430a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011394 biolink:NamedThing Hypoplasia of the vestibular nerve Underdevelopment of the vestibular nerve. tmpxe7fu0cj_hp_relaxed.owl Thin vestibular nerve|Hypoplasia of the eighth cranial nerve|Hypoplasia of cranial nerve VIII UMLS:C4020750 hecht 2012-03-09T05:14:35Z human_phenotype owl:Class N4ac3f3bf45cc47ff907ba656eeee334f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002193 biolink:NamedThing hemolymphoid system Anatomical cluster consisting of the hematopoietic system and the lymphoid system, or its analogs. tmpxe7fu0cj_hp_relaxed.owl lymphomyeloid complex|hematolymphoid system|haemolymphoid system CALOHA:TS-2018|FMA:74562|MA:0000013|EHDAA2:0004615|EMAPA:18765 uberon owl:Class HP:0020006 biolink:NamedThing Ciliary body coloboma A coloboma of the ciliary body. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072884 owl:Class N6c8b9878ff804134851a26973e86ed3e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:2000978 biolink:NamedThing negative regulation of forebrain neuron differentiation Any process that stops, prevents or reduces the frequency, rate or extent of forebrain neuron differentiation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-08-03T12:09:16Z biological_process owl:Class GO:0021879 biolink:NamedThing forebrain neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron that will reside in the forebrain. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CL:0000035 biolink:NamedThing single fate stem cell A stem cell that self-renews as well as give rise to a single mature cell type. tmpxe7fu0cj_hp_relaxed.owl unipotential stem cell|unipotent stem cell FMA:70569 cell owl:Class PATO:0001400 biolink:NamedThing unipotent A cellular potency that is the capacity to produce only one differentiated cell type. tmpxe7fu0cj_hp_relaxed.owl Unipotent cells have the quality of self-renewal which distinguishes them from non-stem cells. quality owl:Class UBERON:0002330 biolink:NamedThing exocrine system Anatomical system that consists of the glands and parts of glands that produce exocrine secretions and help to integrate and control bodily metabolic activity. Exocrine glands are glands that secrete their products (hormones) into ducts (duct glands). They are the counterparts to endocrine glands, which secrete their products (hormones) directly into the bloodstream (ductless glands) or release hormones (paracrines) that affect only target cells nearby the release site. [Wikipedia]. tmpxe7fu0cj_hp_relaxed.owl exocrine glandular system WikipediaCategory:Exocrine_system|EMAPA:35329|Wikipedia:Exocrine_gland|NCIT:C12957|EHDAA2:0002225|CALOHA:TS-2057|MA:0002411|FMA:85539|UMLS:C1516995 uberon owl:Class UBERON:0001388 biolink:NamedThing gastrocnemius The most superficial muscle of the triceps surae group, in the posterior portion of the lower hindleg. tmpxe7fu0cj_hp_relaxed.owl musculus gastrocnemius|gastrocnemius muscle|m. gastrocnemius|m.gastrocnemius NCIT:C32666|galen:Gastrocnemius|EHDAA2:0000701|FMA:22541|UMLS:C0242691|VHOG:0001193|MA:0002306|BTO:0000506|EFO:0001413|EHDAA:8293|EMAPA:35375 http://upload.wikimedia.org/wikipedia/commons/8/8e/Gastrocnemius.png uberon owl:Class The most superficial calf muscle in the posterior part of the leg. [TFD][VHOG] The most prominent ventral muscle of the shank is the gastrocnemius, the 'calf' muscle. In mammals, it has two heads, resulting from the fusion of two different phylogenetic predecessors.[well established][VHOG] In mammals this muscle has two heads[ISBN:0073040584] involved in standing, walking, running and jumping PR:000001004 biolink:NamedThing CD4 molecule A protein that is a translation product of the human CD4 gene or a 1:1 ortholog thereof. CD4 is an accessory protein for MHC class-II antigen/T-cell receptor interaction. It is the primary receptor for HIV-1. CD4 has four immunoglobulin-like domains in its extracellular region that share the same structure, but can differ in sequence. tmpxe7fu0cj_hp_relaxed.owl T-cell surface antigen T4/Leu-3|T-cell differentiation antigen L3T4|T-cell surface glycoprotein CD4|CD4 PIRSF:PIRSF001977 Category=gene. Requested by=CL. protein owl:Class UBERON:0004537 biolink:NamedThing blood vasculature A vascular network consisting of blood vessels. tmpxe7fu0cj_hp_relaxed.owl blood vessels|blood vessel system|set of blood vessels|blood system|blood vascular network TAO:0001079|ZFA:0001079 uberon owl:Class UBERON:0036328 biolink:NamedThing wall of coronary artery tmpxe7fu0cj_hp_relaxed.owl coronary arterial wall FMA:14179 uberon owl:Class UBERON:0001621 biolink:NamedThing coronary artery An artery that supplies the myocardium. tmpxe7fu0cj_hp_relaxed.owl coronary arterial tree|coronary vessel UMLS:C0205042|galen:CoronaryArtery|NCIT:C12843|FMA:49893|EV:0100383|EFO:0002551|BTO:0000290|CALOHA:TS-0176|VHOG:0001557|ZFA:0005812|MA:0002453|EMAPA:19160|OpenCyc:Mx4rvoL56ZwpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/4/46/Gray492.png uberon owl:Class Na60e4ac1231140ebb10fdca74747aa49 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2521a936bb474bfc8344a05367b031d1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005466 biolink:NamedThing Hypoplasia of the frontal bone Underdevelopment of the frontal bone. tmpxe7fu0cj_hp_relaxed.owl Hypotrophic frontal bone|Small bone of forehead|Hypoplastic frontal bones|Thin bone of forehead|Decreased size of bone of forehead|Underdevelopment of bone of forehead|Hypotrophic frontal bones UMLS:C1845147|UMLS:C4280484|UMLS:C4280483 HP:0005493 human_phenotype owl:Class N63023c5201934ef5b16c3636c1859369 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030277 biolink:NamedThing Abnormal vertebral pedicle morphology Abnormal morphology of a vertebral pedical. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022541 The pedicle is part of the lumbar vertebrae - each lumbar vertebra consists of a vertebral body and a vertebral arch. The vertebral arch, consisting of a pair of pedicles and a pair of laminae, encloses the vertebral foramen. owl:Class N39e3337e268a493d8bb803643991f229 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060560 biolink:NamedThing developmental growth involved in morphogenesis The increase in size or mass of an anatomical structure that contributes to the structure attaining its shape. tmpxe7fu0cj_hp_relaxed.owl differential growth dph 2009-04-28T08:42:53Z biological_process owl:Class N7ef7a43d84b843709327da68bad0aa94 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007862 biolink:NamedThing Retinal calcification Deposition of calcium salts in the retina. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1867289 human_phenotype owl:Class Nbe6cbf14ae5f43c0ac4f046b4ccdb97b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:28976 biolink:NamedThing carbonic acid tmpxe7fu0cj_hp_relaxed.owl carbonic acid|[CO(OH)2]|Koehlensaeure|Carbonic acid|Dihydrogen carbonate|dihydroxidooxidocarbon|H2CO3 0 CH2O3 InChI=1S/CH2O3/c2-1(3)4/h(H2,2,3,4) BVKZGUZCCUSVTD-UHFFFAOYSA-N 62.02478 62.00039 OC(O)=O Gmelin:25554|CAS:463-79-6|PDBeChem:CO3|KEGG:C01353 CHEBI:23017|CHEBI:3401|CHEBI:23744|CHEBI:13351 chebi_ontology owl:Class UBERON:0010970 biolink:NamedThing intercostal pre-muscle mass tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000843 uberon owl:Class UBERON:0011742 biolink:NamedThing aortic valve leaflet A cardiac valve leaflet that is part of a aortic valve. tmpxe7fu0cj_hp_relaxed.owl aortic valve leaflets EMAPA:18627|VHOG:0000819 uberon owl:Class Extensive conservation of valve developmental mechanisms also has been observed among vertebrate species including chicken, mouse, and human.[uncertain][VHOG] HP:0410370 biolink:NamedThing Absence of ganglioside GM3 The absence of ganglioside GM3. tmpxe7fu0cj_hp_relaxed.owl owl:Class Naf9c60f0c70e4b5a8cdab0b481d4282d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3b0cb1342d3b441e918e3bbb173b2600 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0001935 biolink:NamedThing endothelial cell proliferation The multiplication or reproduction of endothelial cells, resulting in the expansion of a cell population. Endothelial cells are thin flattened cells which line the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0007894 biolink:NamedThing Hypopigmentation of the fundus Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). tmpxe7fu0cj_hp_relaxed.owl Fundus hypopigmentation|Decreased fundus pigmentation SNOMEDCT_US:95694000|UMLS:C0151891 HP:0007752|HP:0001487|HP:0001111|HP:0007746 human_phenotype owl:Class N4f73a54f2c574dc694761d4604a1d506 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na00cc179690f452a864275237720fa2f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0000792 biolink:NamedThing heterochromatin A compact and highly condensed form of chromatin that is refractory to transcription. tmpxe7fu0cj_hp_relaxed.owl transcriptionally silent chromatin|transcriptionally inactive chromatin|nuclear heterochromatin https://github.com/geneontology/go-ontology/issues/22355 NIF_Subcellular:sao581845896|Wikipedia:Heterochromatin GO:0005720|GO:0035328 cellular_component owl:Class N4aa78a31e29e4ba9915c73183c11c769 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005745 biolink:NamedThing optic foramen An opening in the skull through which cranial nerve II passes.[MP]. tmpxe7fu0cj_hp_relaxed.owl foramen opticum ossis sphenoidalis|optic foramen|optic canal|optic nerve foramen|canalis opticus|optic nerve (II) foramen EHDAA:10646|FMA:54774|TAO:0002025|ZFA:0005428|AAO:0000342|VHOG:0001408|EHDAA2:0001312|EMAPA:18716 In teleost fishes the opening is wider that in mammals. Due to the longer and deeper shape in mammals, this is usually called the optic canal; sometimes the term optic foramen may be used for the opening of the canal, but here we use this term to denote the entire space together with surrounding bone surface. Orbita:mensch.jpg UBERON:0006269 uberon owl:Class Foramen in the orbital region of the neurocranium for the passage of the optic nerve (cranial nerve II).[TAO]|The short canal through the orbitosphenoid bone at the apex of the orbit that gives passage to the optic nerve and the opthalmic artery|An aperture in the root of the lesser wing of the sphenoid bone transmitting the optic nerve. [TFD][VHOG] GO:0003403 biolink:NamedThing optic vesicle formation The developmental process pertaining to the initial formation of the optic vesicle from the lateral wall of the forebrain. This process begins with the specific processes that contribute to the appearance of the vesicle and ends when the vesicle has evaginated. The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup. tmpxe7fu0cj_hp_relaxed.owl dph 2009-12-21T01:42:37Z biological_process owl:Class UBERON:0000397 biolink:NamedThing colonic epithelium An epithelium that is part of a colon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelium of large bowel|colon epithelial tissue|epithelial tissue of large bowel|large bowel epithelium|epithelium of colon|colon epithelium|posterior intestine epithelium|epithelial tissue of colon|large bowel epithelial tissue FMA:17302|EMAPA:18941|MA:0003195|TAO:0005128|ZFA:0005128|CALOHA:TS-0163|BTO:0001709 uberon owl:Class Intestinal epithelium which lines the lumen of the posterior intestine.[TAO] Nbcceac4a58964b0babb55658fc1d3ee3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060083 biolink:NamedThing smooth muscle contraction involved in micturition The process leading to shortening and/or development of tension in the urinary bladder smooth muscle tissue involved in the expulsion urine from the body. tmpxe7fu0cj_hp_relaxed.owl urinary bladder smooth muscle contraction involved in micturition|smooth muscle contraction involved in urination biological_process owl:Class UBERON:0001168 biolink:NamedThing wall of small intestine An anatomical wall that is part of a small intestine [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl small bowel anatomical wall|small intestine wall|small intestinal wall|anatomical wall of small bowel|anatomical wall of small intestine|small intestine anatomical wall|wall of small bowel|small bowel wall EMAPA:35785|NCIT:C33573|UMLS:C1519375|MA:0002696|FMA:14615 uberon owl:Class UBERON:0005233 biolink:NamedThing medial-nasal process ectoderm An ectoderm that is part of a medial nasal prominence [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl VHOG:0000803|EHDAA2:0001078|FMA:312675|EMAPA:16809 uberon owl:Class UBERON:0001804 biolink:NamedThing capsule of lens The elastic, clear, membrane-like structure, that is outer most layer of the lens. tmpxe7fu0cj_hp_relaxed.owl capsula lentis|lens capsule EHDAA2:0000977|ZFA:0005574|MA:0001300|FMA:58881|VHOG:0000550|UMLS:C0229232|EMAPA:18237|NCIT:C32975|SCTID:244500004|Wikipedia:Lens_(anatomy)#Lens_capsule http://upload.wikimedia.org/wikipedia/commons/5/55/Gray883.png uberon owl:Class The transparent membrane which surrounds the lens of the eye. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] (...) we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya (reference 1); Although the eye varies greatly in adaptative details among vertebrates, its basic structure is the same in all. The human eye is representative of the design typical for a tetrapod. (...) A watery aqueous humor fills the spaces in the eye in front of the lens (...) (reference 2).[well established][VHOG] synthesized by the lens epithelium and its main components are Type IV collagen and sulfated glycosaminoglycans (GAGs). [Wikipedia:Capsule_of_lens FMA classifies this is a capsule and hence an organ part. In contrast we classify this as acellular PATO:0000964 biolink:NamedThing transparent A optical quality inhering in a bearer by virtue of the bearer's lacking opacity. tmpxe7fu0cj_hp_relaxed.owl hyaline|clear quality owl:Class HP:0010685 biolink:NamedThing Low alkaline phosphatase of renal origin An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. tmpxe7fu0cj_hp_relaxed.owl Low ALP of renal origin UMLS:C4023740 doelkens 2010-03-05T11:12:47Z human_phenotype owl:Class Nb224add0638a4569a6632c79e6702680 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0070093 biolink:NamedThing negative regulation of glucagon secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of glucagon. tmpxe7fu0cj_hp_relaxed.owl down regulation of glucagon secretion|down-regulation of glucagon secretion|downregulation of glucagon secretion|inhibition of glucagon secretion biological_process owl:Class UBERON:0001074 biolink:NamedThing pericardial cavity A potential space between the visceral and parietal layers of the pericardium. tmpxe7fu0cj_hp_relaxed.owl pericardial space|cavity of pericardial sac|cavitas pericardiaca TAO:0002220|Wikipedia:Pericardial_cavity|EMAPA:16132|SCTID:362027001|EHDAA2:0001434|EMAPA:16131|ZFA:0001655|FMA:11350|MA:0000053|VHOG:0000556|BSA:0000091|galen:PericardialSpace|UMLS:C0225972|NCIT:C38662 uberon owl:Class Anatomical space in which the heart is located and is surrounded by the pericardium.[TAO] In hagfishes a transverse septum extends upward from the ventral body wall posterior to the heart, partly separating an anterior pericardial cavity from a larger peritoneal cavity. (...) These basic relationships have not been modified by urodeles. The small pericardial cavity remains far forward where it is separated by a transverse septum from the principal coelom, which may now be called a pleuroperitoneal cavity because slender lungs are present. (...) The heart (of other tetrapods) is separated from the lungs (and liver if present) by more or less horizontal partitions that have their origin in the embryo as folds on the serous membrane of the right and left lateral body walls. These grow out to join in the midline of the body. They are called lateral mesocardia (birds) or pleuropericardial membranes. Posteriorly they join the transverse septum to form the adult pericardial membrane, or pericardium. (...) In their partitioning of their coelom, embryonic mammals resemble first early fishes (incomplete partition, posterior to heart, consisting of the transverse septum) and then reptiles (pericardium derived from transverse septum and pleuropericardial membranes). Mammals then separate paired pleural cavities from the peritoneal cavity by a diaphragm. The ventral portion of this organ comes from the transverse septum. The dorsal portion is derived from the dorsal mesentery and from still another pair of outgrowths from the lateral body wall, the pleuroperitoneal membranes.[well established][VHOG] check ZFA, should actually be thoracic cavity. Note that Hyman defines the cavity as the space between the heart and the sac (but defines the sac as parietal) UBERON:0002409 biolink:NamedThing pericardial fluid Transudate contained in the pericardial cavity.[FMA]. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Pericardial_fluid|BTO:0001016|MA:0002530|FMA:9887 uberon owl:Class CL:0000172 biolink:NamedThing somatostatin secreting cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class N12d541ace5774314989f06cc81c52de6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011819 biolink:NamedThing lumen of atrioventricular canal A tube lumen that is part of a atrioventricular canal. tmpxe7fu0cj_hp_relaxed.owl cavity of atrioventricular canal|AVC lumen|lumen of AVC EHDAA2:0000152 uberon owl:Class UBERON:0002087 biolink:NamedThing atrioventricular canal The part of the heart connecting the atrium to the cardiac ventricle[ZFA]. In the developing heart, the constriction between the atrium and ventricle constitutes the atrial canal, and indicates the site of the future atrioventricular valves[WP]. tmpxe7fu0cj_hp_relaxed.owl atrio-ventricular canal|ependymal canal|atrial canal|AV canal|canalis atrioventricularis|AVC TAO:0001315|VHOG:0001473|EMAPA:16546|XAO:0004123|ZFA:0001315|EHDAA:764|FMA:71121 http://upload.wikimedia.org/wikipedia/commons/d/d8/Gray464.png uberon owl:Class The canal connecting the primitive atrium and ventricle in fishes and amniotes embryo. [TFD][VHOG] The heart is the first organ to form and function in a vertebrate. (...) Septation of the AV canal is initiated with the formation of inferior and superior endocardial cushions in response to signaling from the overlying myocardium. (...) Analysis of zebrafish mutants with cardiovascular defects uncovered a previously unexpected level of conservation between zebrafish and human cardiovascular physiology.[uncertain][VHOG] In the embryo, the atrioventricular canal delays the impulse from atrium to ventricle[PMID:22984480] The right side of the AVC becomes the tricuspid valve whereas the left side of the AVC will become the bicuspid valve this is a lumen in EHDAA2 GO:0045009 biolink:NamedThing chitosome An intracellular membrane-bounded particle found in fungi and containing chitin synthase; it synthesizes chitin microfibrils. Chitin synthase activity exists in chitosomes and they are proposed to act as a reservoir for regulated transport of chitin synthase enzymes to the division septum. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class UBERON:0006061 biolink:NamedThing process of vertebra A process projection from a part of the vertebra such as centrum or arches. Examples: transverse process, diapophyses, parapophyses, and zygapophyses (both the cranial zygapophyses and the caudal zygapophyses). tmpxe7fu0cj_hp_relaxed.owl vertebral process|vertebra process|spinous process NCIT:C116112|FMA:24530|AAO:0000739 uberon owl:Class UBERON:0004160 biolink:NamedThing proepicardium An embryonic group of progenitor cells that forms from an outpouching of the septum transversum near the venous pole of the heart and gives rise to the epicardium. tmpxe7fu0cj_hp_relaxed.owl proepicardial organ|proepicardial cluster EMAPA:36025|ZFA:0005808 uberon owl:Class propepicardial Proepicardial clusters in Zebrafish form on the pericardial wall, adjacent to the atrioventricular (AV) junction and near the venous pole[ZFA] UBERON:0004535 biolink:NamedThing cardiovascular system Anatomical system that has as its parts the heart and blood vessels. tmpxe7fu0cj_hp_relaxed.owl Herz und Gefaesssystem|CV system EMAPA:16370|BTO:0000088|EFO:0000791|UMLS:C0007226|MA:0000010|MIAA:0000016|MESH:D002319|FMA:7161|XAO:0000100|CALOHA:TS-1297|VHOG:0000302|AAO:0011001|EHDAA:394|GAID:467|BILA:0000016|EHDAA2:0000216|SCTID:278198007|EMAPA:16104|ZFA:0000010|NCIT:C12686|MAT:0000016|WikipediaCategory:Cardiovascular_system|XAO:0001010|EV:0100017|TAO:0000010|OpenCyc:Mx4rvVjzG5wpEbGdrcN5Y29ycA we treat cardiovascular as part of circulatory system, with the latter including other kinds of circulation, including lymph. uberon owl:Class The vessels of the cardiovascular system are as varied as the diverse organs they supply. However, these variations are based on modifications of a fundamental plan of organization common to vertebrates.[well established][VHOG] HP:0007732 biolink:NamedThing Lacrimal gland hypoplasia Underdevelopment of the lacrimal gland. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped tear gland|Hypoplastic lacrimal gland UMLS:C1863200 human_phenotype owl:Class Na500819fedc842ecb5d1703a8e207753 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001072 biolink:NamedThing posterior vena cava A vein that carries deoxygenated blood from the lower half of the body into the right atrium of the heart. tmpxe7fu0cj_hp_relaxed.owl caudal vena cava|inferior caval vein|inferior vena cava|vena cava inferior|postcava|posterior vena cava GAID:548|BTO:0002682|XAO:0000388|galen:InferiorVenaCava|NCIT:C12815|FMA:10951|UMLS:C0042458|MESH:D014682|EHDAA2:0000611|MA:0000480|AAO:0011083|VHOG:0001194|EMAPA:18416 http://upload.wikimedia.org/wikipedia/commons/4/4d/Gray577.png uberon owl:Class Trunk of systemic vein which is formed by the union of the right common iliac vein and the left common iliac vein and terminates in the right atrium[FMA]. Phylogenetic modifications within this basic pattern of arteries and veins are largely correlated with functional changes. In the transition from water to land, gills gave way to lungs, accompanied by the establishment of a pulmonary circulation. In some fishes and certainly in tetrapods, the cardinal veins become less involved in blood return. Instead, the composite, prominent postcava (posterior vena cava) arose to drain the posterior part of the body and the precava (anterior vena cava) developed to drain the anterior part of the body.[well established][VHOG] UBERON:0034925 biolink:NamedThing anatomical collection A collection of anatomical structures that are alike in terms of their morphology or developmental origin. tmpxe7fu0cj_hp_relaxed.owl resolve if this should be a subclass of disconnected anatomical group. Some collections (e.g. the skeleton or skull) are arguably connected uberon owl:Class HP:0009072 biolink:NamedThing Decreased Achilles reflex Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. tmpxe7fu0cj_hp_relaxed.owl Hyporeflexia at ankle joints UMLS:C1837323 owl:Class Na2800fff5ca54d0598ba6ef8bfaddf28 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0033341 biolink:NamedThing regulation of collagen binding Any process that modulates the frequency, rate or extent of collagen binding. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:3000033 biolink:NamedThing Abnormal nasopharyngeal adenoid morphology Any abnormality of nasopharyngeal adenoids. tmpxe7fu0cj_hp_relaxed.owl Abnormality of nasopharyngeal tonsil|Abnormality of adenoids|Abnormality of pharyngeal tonsil|Abnormality of nasopharyngeal adenoids UMLS:C4073241 The adenoid, a mass of lymphatic tissue situated posterior to the nasal cavity, in the roof of the nasopharynx, where the nose blends into the throat. vasilevs 2015-08-07T00:27:21Z human_phenotype owl:Class Ncd805d159f574e32a709665cd27024fb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100154 biolink:NamedThing Small epiphysis of the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Small end part of the middle bone of the 3rd toe UMLS:C4022267 doelkens 2010-06-24T10:24:13Z human_phenotype owl:Class N1cc56c7be58b49ed895f717e77cd062c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001838 biolink:NamedThing Rocker bottom foot The presence of both a prominent heel and a convex contour of the sole. tmpxe7fu0cj_hp_relaxed.owl Rocker bottom foot|Rocker bottom feet|Rocker-bottom feet|Rockerbottom feet|Congenital vertical talus MEDDRA:10066242|UMLS:C0240912|MSH:D005413|SNOMEDCT_US:205082007|SNOMEDCT_US:205359003|MSH:C536345 Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a "reversed" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis. HP:0004693|HP:0010218|HP:0001835 human_phenotype owl:Class N0b5eda8c08c84270af0f390f40b97fcd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015094 biolink:NamedThing distal carpal bone 4 cartilage A distal carpal bone 4 endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0100177 biolink:NamedThing Small epiphysis of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Small end part of the outermost bone of the 4th toe UMLS:C4022244 doelkens 2010-06-24T04:53:36Z human_phenotype owl:Class Nb9ed633322d84a1ab02d9f890d7e5928 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0099173 biolink:NamedThing postsynapse organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a postsynapse. tmpxe7fu0cj_hp_relaxed.owl postsynapse organisation|postsynapse organization and biogenesis|postsynapse development|postsynapse morphogenesis biological_process owl:Class HP:0012297 biolink:NamedThing Slender proximal phalanx of finger Reduced diameter of the proximal phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Slender innermost bone of finger UMLS:C4022961 peter 2013-04-12T05:45:35Z human_phenotype owl:Class Ne72cb34cbddb45b2b3a1ab5762110512 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3a40a37771e444f9b85c67dc516b9063 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003362 biolink:NamedThing Increased VLDL cholesterol concentration An increase in the amount of very-low-density lipoprotein cholesterol in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased circulating very-low-density lipoprotein levels|Increased circulating very-low-density lipoprotein cholesterol|Increased plasma VLDL cholesterol UMLS:C4021729 human_phenotype owl:Class N1eb198f4c84c42ecb83bdf9c7f07df45 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neb295f787fe84d3c84fbf50de347504b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0031349 biolink:NamedThing positive regulation of defense response Any process that activates or increases the frequency, rate or extent of a defense response. tmpxe7fu0cj_hp_relaxed.owl up regulation of defense response|upregulation of defense response|activation of defense response|stimulation of defense response|up-regulation of defense response biological_process owl:Class Nfe719a53875440b185841e55b78efabf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0015630 biolink:NamedThing microtubule cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HsapDv:0000087 biolink:NamedThing human adult stage Human developmental stage that refers to an adult who is over 19. tmpxe7fu0cj_hp_relaxed.owl 19+ years human_developmental_stage 19.0 owl:Class N13b65f059f744169a0fd6dea5144e492 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:2000046 biolink:NamedThing ventricular cardiac muscle cell Any cardiac muscle cell that is part of a cardiac ventricle. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-08-12T20:50:28Z cell owl:Class CL:0001029 biolink:NamedThing common dendritic progenitor Common dendritic precursor is a hematopoietic progenitor cell that is CD117-low, CD135-positive, CD115-positive and lacks plasma membrane parts for hematopoietic lineage markers. tmpxe7fu0cj_hp_relaxed.owl pro-DCs|CDP|common dendritic precursor Surface markers are for mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000041) CDP are reportedly CD2-negative, CD3-negative, CD4-negative, CD5-negative, CD8a-negative, CD11c-positive, CD14-negative, CD19-negative, CD20-negative, CD56-negative, B220-negative, Ly6g-negative, MHCII-positive, and Ter119-negative. (PMID:19243617). cell owl:Class N9706b6ec658847dab409d324ad277537 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003622 biolink:NamedThing manual digit 2 2nd digit of the manus. tmpxe7fu0cj_hp_relaxed.owl 2nd digit of hand|hand digit 2|2nd finger|second finger|fore digit II|second digit of hand|digit 2 of fore-paw|finger 2|fore limb digit 2|index finger|manual digit II AAO:0010640|FMA:24946|EMAPA:17432|EHDAA2:0000517|MA:0000455|NCIT:C52835|UMLS:C0230388 Index:finger.JPG uberon owl:Class indicis This class represents the standard tetrapod configuration. Wagner proposes that avian digits I,II,III develop from C2,C3,C4. To support this scheme we have separate classes representing the avian digits (here called alula, manual digit, major digit).|Anurans lack manual digit 1, so manual digit 2 is the digit after the prepollex (Phenotype RCN Oct 2012) UBERON:5003622 biolink:NamedThing manual digit 2 plus metapodial segment A subdivision of the autopod consisting of manual digit 2 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl manual digit 2 digitopodial subdivision|manual digit 2 ( phalanges plus metapodial) plus soft tissue|manual digit 2 ray|manual digit II plus metapodial segment|manual digit 2 this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class HP:3000044 biolink:NamedThing Abnormality of frontal process of maxilla An abnormality of a frontal process of the maxilla bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073252 vasilevs 2015-08-07T01:04:49Z human_phenotype owl:Class N2ac09a8a222f44c3949e0374ac9ad16c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002517 biolink:NamedThing basicranium The base of skull is the most inferior area of the skull, composed of the endocranium and lower parts of the skull roof. tmpxe7fu0cj_hp_relaxed.owl cranial base|basis cranii|base of skull|base of cranium NCIT:C12493|FMA:52801|MESH:D019291|MFMO:0000044|UMLS:C0149543|MA:0002840 The skull base is formed from a series of cartilages either side of, and rostral to, the notochord, whose tip lies just caudal to the pituitary gland. It is closely associated with the sensory capsules, which partially or completely sur- round the olfactory epithelium, the eye, and the inner ear[PMID:11523816] http://upload.wikimedia.org/wikipedia/commons/8/81/Gray193.png uberon owl:Class basicranial UBERON:0010160 biolink:NamedThing lumen of lymphatic vessel An anatomical cavity that surrounded_by a lymphatic vessel. tmpxe7fu0cj_hp_relaxed.owl lymphatic vessel lumen|lumen of lymphatic duct FMA:59681 uberon owl:Class N79502a9c207943bb9487506aa0322234 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009565 biolink:NamedThing nail of manual digit A nail that is part of a manual digit. tmpxe7fu0cj_hp_relaxed.owl forelimb digit claw|nail plate of finger|finger nail|claw of manus|fingernail|nail of finger|claw of hand|manual claw EMAPA:35349|NCIT:C32609|FMA:54327|UMLS:C0222001 uberon owl:Class HP:0003427 biolink:NamedThing Thenar muscle weakness tmpxe7fu0cj_hp_relaxed.owl UMLS:C1832276 human_phenotype owl:Class Ncb4d87cd9bd04b7bb9c85ede302bfb3a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040309 biolink:NamedThing Increased size of the mandible tmpxe7fu0cj_hp_relaxed.owl Large jaw owl:Class N005028254b8e45f5b6abae2dfeea54c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0041173 biolink:NamedThing Fractured metacarpophalangeal joint A partial or complete breakage of the metacarpophalangeal joint. tmpxe7fu0cj_hp_relaxed.owl bone metacarpophalangeal joint owl:Class N87dd9ae5a930494db1b862799bdf3795 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009106 biolink:NamedThing Abnormal pelvis bone ossification An abnormality of the formation and mineralization of any bone of the bony pelvis. tmpxe7fu0cj_hp_relaxed.owl Abnormal maturation of the pelvis bone|Abnormal ossification involving the bones of the pelvis UMLS:C4021525|UMLS:C4280402 peter 2008-04-04T08:42:00Z human_phenotype owl:Class N6ca1e02143fe4ee295488fd53646893f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0016740 biolink:NamedThing transferase activity Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. tmpxe7fu0cj_hp_relaxed.owl EC:2.-.-.-|Reactome:R-HSA-5668414|Reactome:R-HSA-8868783|Reactome:R-HSA-1483089|Reactome:R-HSA-1483186 molecular_function owl:Class HP:0000721 biolink:NamedThing Lack of spontaneous play tmpxe7fu0cj_hp_relaxed.owl Lack of spontaneous play UMLS:C1837650 human_phenotype owl:Class N43ad98ce254b47dbbcdeb87c591a01f2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0c57413c12c6414e90e49b95f51a2380 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na308483130da490a9c120c71ff220e7d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:14321 biolink:NamedThing glutamate(1-) An alpha-amino-acid anion that is the conjugate base of glutamic acid, having anionic carboxy groups and a cationic amino group tmpxe7fu0cj_hp_relaxed.owl 2-ammoniopentanedioate|glutamic acid monoanion|glutamate|glutamate(1-)|hydrogen glutamate -1 C5H8NO4 InChI=1S/C5H9NO4/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H,7,8)(H,9,10)/p-1 WHUUTDBJXJRKMK-UHFFFAOYSA-M 146.12136 146.04588 [NH3+]C(CCC([O-])=O)C([O-])=O Gmelin:327908 chebi_ontology owl:Class UBERON:0035006 biolink:NamedThing preputial swelling of female tmpxe7fu0cj_hp_relaxed.owl prepuce of female EMAPA:30478 uberon owl:Class N57729034765140ce825dc6279ed42bd7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N66542a8f0ce24c4ab19defd364757539 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015109 biolink:NamedThing distal tarsal bone 3 cartilage A distal tarsal bone 3 endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class N04b5fe0e83ed427ab4acd664e22ebc7c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004539 biolink:NamedThing right kidney A kidney that is part of a right side of organism [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:7204|UMLS:C0227613|NCIT:C34005|EMAPA:36590|MA:0001683 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0003304 biolink:NamedThing mesoderm blood island A blood island that is part of a mesoderm. tmpxe7fu0cj_hp_relaxed.owl mesoderm blood islands|mesenchyme blood island EHDAA2:0003241|EMAPA:16115|EHDAA:170 UBERON:0003305 uberon owl:Class in EHDAA2, gives rise to blood and dorsal aorta N8b2f4df0a699450091afd7652deab8e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0001026 biolink:NamedThing CD34-positive, CD38-positive common myeloid progenitor A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative. tmpxe7fu0cj_hp_relaxed.owl CD71-positive common myeloid precursor Markers are associated with human cell type. Originally described in the dendritic cell ontology (DC_CL:0000038)(PMID:19243617). cell owl:Class Nb5c0759c4c144bd0a00434cbaaf57855 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0007018 biolink:NamedThing microtubule-based movement A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class NCBITaxon:117570 biolink:NamedThing Teleostomi tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001834 biolink:NamedThing upper lip Lip that covers the upper portion of the mouth.[TAO]. tmpxe7fu0cj_hp_relaxed.owl labium superius oris|upper jaw lip EMAPA:17925|TAO:0001970|FMA:59817|MA:0000919|OpenCyc:Mx4rvWPv7pwpEbGdrcN5Y29ycA|VHOG:0001750|ZFA:0005226 http://upload.wikimedia.org/wikipedia/commons/d/d4/Illu01_head_neck.jpg UBERON:0003391 uberon owl:Class Lip that covers the lower portion of the mouth. [ZFIN:Curator][VHOG]|Lip that covers the upper portion of the mouth.[TAO] UBERON:0011592 biolink:NamedThing future upper lip tmpxe7fu0cj_hp_relaxed.owl upper jaw future lip EHDAA2:0002120 uberon owl:Class Nc52b13987e09443193ae1051ffa6369d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:61120 biolink:NamedThing nucleobase-containing molecular entity Any compound that has a nucleobase as a part. tmpxe7fu0cj_hp_relaxed.owl nucleobase-containing compounds|nucleobase-containing molecular entities|nucleobase-containing compound chebi_ontology owl:Class UBERON:0010046 biolink:NamedThing entire pharyngeal arch associated mesenchyme The sum total of mesenchymal tissue in the pharyngeal arch region. Pharyngeal mesenchyme is undifferentiated, loose connective tissue derived mostly from mesoderm, and also contains ectodermally derived neural crest cells. tmpxe7fu0cj_hp_relaxed.owl pharyngeal arch associated mesenchyme|entire branchial arch associated mesenchyme|associated mesenchyme of pharyngeal region EHDAA2:0001459|EMAPA:16550|XAO:0004524 uberon owl:Class N35d2496360fa4d6f9824ababbbd48882 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004538 biolink:NamedThing left kidney A kidney that is part of a left side of organism [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:36589|MA:0001655|FMA:7205|UMLS:C0227614|NCIT:C34006 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern CHEBI:29986 biolink:NamedThing D-glutamate(1-) An alpha-amino-acid anion that is the conjugate base of D-glutamic acid, having anionic carboxy groups and a cationic amino group tmpxe7fu0cj_hp_relaxed.owl D-glutamate|(2R)-2-ammoniopentanedioate|hydrogen D-glutamate|D-glutamate(1-)|D-glutamic acid monoanion -1 C5H8NO4 InChI=1S/C5H9NO4/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H,7,8)(H,9,10)/p-1/t3-/m1/s1 WHUUTDBJXJRKMK-GSVOUGTGSA-M 146.12136 146.04588 [NH3+][C@H](CCC([O-])=O)C([O-])=O Beilstein:8319427|MetaCyc:D-GLT CHEBI:21022|CHEBI:12979 chebi_ontology owl:Class CHEBI:15966 biolink:NamedThing D-glutamic acid An optically active form of glutamic acid having D-configuration. tmpxe7fu0cj_hp_relaxed.owl D-Glutaminsaeure|(2R)-2-aminopentanedioic acid|(R)-2-aminopentanedioic acid|DGL|glutamic acid D-form|D-2-Aminoglutaric acid|D-Glutamic acid|D-glutamic acid|D-Glutaminic acid 0 C5H9NO4 InChI=1S/C5H9NO4/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H,7,8)(H,9,10)/t3-/m1/s1 WHUUTDBJXJRKMK-GSVOUGTGSA-N 147.12930 147.05316 N[C@H](CCC(O)=O)C(O)=O MetaCyc:D-GLT|Gmelin:201189|Reaxys:1723800|KNApSAcK:C00019577|Beilstein:1723800|PDBeChem:DGL|KEGG:C00217|CAS:6893-26-1|HMDB:HMDB0003339|DrugBank:DB02517 CHEBI:21023|CHEBI:4183 chebi_ontology owl:Class Nb04ab5b65d70496fbd618d3f4dc3a9ae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0dafde411ca647b483dfd3b6a294a5ab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012151 biolink:NamedThing skeleton of manual digitopodium A subdivision of the manus skeleton consisting of both manual acropodial skeleton and metacarpal skeleton, but excluding the carpal skeleton. tmpxe7fu0cj_hp_relaxed.owl manual digitopodium uberon https://github.com/obophenotype/uberon/wiki/Subdivisions-of-the-autopod owl:Class some sources call this the acropodium. see https://github.com/obophenotype/uberon/wiki/Subdivisions-of-the-autopod UBERON:0001442 biolink:NamedThing skeleton of manus Subdivision of skeleton that is the collection of all skeletal elements in a manus, which is the distal section of the anterior forelimb skeleton consisting of the mesopodium, the metapodium and the acropodium (e.g. including the wrist, palm, and fingers)[Phenoscape]. tmpxe7fu0cj_hp_relaxed.owl hand skeleton|fore autopod skeleton|ossa manus|bones of hand|set of bones of hand|anterior autopodium|manus|manus skeleton|anterior autopodium skeleton|forelimb autopod skeleton|skeleton of hand|hand region skeleton|manual skeleton EMAPA:32643|EHDAA2:0002227|VSAO:0005020|FMA:24159|OpenCyc:Mx4rvdHPJJwpEbGdrcN5Y29ycA here 'manus' includes both the wrist region, metatarsal region and acropodial region uberon owl:Class https://github.com/obophenotype/uberon/wiki/Skeleton-partonomy-Design-Pattern UBERON:0001355 biolink:NamedThing deep femoral artery The profunda femoris artery (also known as the deep femoral artery, or the deep artery of the thigh) is a branch of the femoral artery that, as its name suggests, travels more deeply (posteriorly) than the rest of the femoral artery. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl arteria profunda femoris|profunda femoris artery UMLS:C0226455|FMA:20741|NCIT:C32436|MA:0002027|EMAPA:37216 http://upload.wikimedia.org/wikipedia/commons/8/8b/Gray548.png uberon owl:Class UBERON:0002060 biolink:NamedThing femoral artery The femoral artery is a large artery in the muscles of the thigh. It is a continuation of external iliac artery where it enters the femoral triangle at the mid inguinal point behind the inguinal ligament. It leaves femoral triangle through apex beneath the sartorius muscle. It enters the popliteal fossa by passing through the 5th osseo-aponeurotic(adductor hiatus) opening of adductor magnus where it becomes the Popliteal Artery. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl arteria femoralis CALOHA:TS-0321|FMA:70248|EMAPA:35342|AAO:0010222|galen:FemoralArtery|BTO:0001624|MESH:D005263|GAID:494|MA:0001951|OpenCyc:Mx4rwHMI05wpEbGdrcN5Y29ycA|NCIT:C12715|UMLS:C0015801 http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray546.png uberon owl:Class Artery which supplies blood via branches to the hindlimbs.[AAO] HP:0030047 biolink:NamedThing Abnormal lateral ventricle morphology A morphological anomaly of the lateral ventricle. tmpxe7fu0cj_hp_relaxed.owl Abnormality of lateral ventricle UMLS:C4022662 There are two lateral ventricles, one on each side of the brain. The lateral ventricle resembles a C-shaped structure that begins at an inferior horn in the temporal lobe, travels through a body in the parietal lobe and frontal lobe, and ultimately terminates at the interventricular foramen of Monro where each lateral ventricle connects to the central third ventricle. owl:Class N93abc9a77ca94c7f956601c7dd79ea8b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000778 biolink:NamedThing Hypoplasia of the thymus Underdevelopment of the thymus. tmpxe7fu0cj_hp_relaxed.owl Thymus hypoplasia|Small thymus|Thymic hypoplasia UMLS:C0685891|UMLS:C4228227|SNOMEDCT_US:93297002 owl:Class Na546421e570249b38a7f896ed26bda0d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:38958 biolink:NamedThing indole alkaloid An alkaloid containing an indole skeleton. tmpxe7fu0cj_hp_relaxed.owl indole alkaloids|Indole alkaloid Wikipedia:Indole_alkaloid|KEGG:C06073 CHEBI:24795|CHEBI:5901 chebi_ontology owl:Class Nc217ed1c143f4a6faf36d5fccef82f9c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015085 biolink:NamedThing distal carpal bone 1 cartilage A distal carpal bone 1 endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0410026 biolink:NamedThing Abnormal periodontium morphology Any abnormality of the periodontium. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the periodontium 2017-06-20 21:40:50+00:00 ORCID:0000-0001-5208-3432 owl:Class Nd51a1183531f43a9b85935291f54baf9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2536552f789b4880982a60c4c61d2a94 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:35589 biolink:NamedThing 9H-purine The 9H-tautomer of purine. tmpxe7fu0cj_hp_relaxed.owl 9H-purine 0 C5H4N4 InChI=1S/C5H4N4/c1-4-5(8-2-6-1)9-3-7-4/h1-3H,(H,6,7,8,9) KDCGOANMDULRCW-UHFFFAOYSA-N 120.11222 120.04360 c1ncc2nc[nH]c2n1 Gmelin:3120|Beilstein:606899|CAS:120-73-0|Wikipedia:Purine chebi_ontology owl:Class CHEBI:35586 biolink:NamedThing 1H-purine The 1H-tautomer of purine. tmpxe7fu0cj_hp_relaxed.owl 1H-purine 0 C5H4N4 InChI=1S/C5H4N4/c1-4-5(8-2-6-1)9-3-7-4/h1-3H,(H,6,7,8,9) KDCGOANMDULRCW-UHFFFAOYSA-N 120.11210 120.04360 c1nc2c[nH]cnc2n1 Gmelin:2379911 chebi_ontology owl:Class Ncd154ad5a94b4e6bb5e3f34356f5a65d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne808227fb84a4762b49573c199619e4e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009561 biolink:NamedThing Osteolytic defects of the distal phalanx of the 2nd finger Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Osteolytic defects of the outermost bone of the 2nd finger|Acro-osteolysis of terminal index finger phalanx|Acro-osteolysis of index finger UMLS:C4021441 doelkens 2009-01-28T04:16:02Z HP:0004142|HP:0004108 human_phenotype owl:Class Nae47e73edcb2401a96ce9db526cc922d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0d2ee597cb60470c91ed5904c18d25cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021550 biolink:NamedThing medulla oblongata development The process whose specific outcome is the progression of the medulla oblongata over time, from its formation to the mature structure. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate. tmpxe7fu0cj_hp_relaxed.owl medulla development|myelencephalon development biological_process owl:Class CHEBI:32532 biolink:NamedThing histidinium(2+) tmpxe7fu0cj_hp_relaxed.owl histidinium(2+)|histidinediium|histidine dication|4-(2-ammonio-2-carboxyethyl)-1H-imidazol-3-ium +2 C6H11N3O2 InChI=1S/C6H9N3O2/c7-5(6(10)11)1-4-2-8-3-9-4/h2-3,5H,1,7H2,(H,8,9)(H,10,11)/p+2 HNDVDQJCIGZPNO-UHFFFAOYSA-P 157.17056 157.08403 [NH3+]C(Cc1c[nH]c[nH+]1)C(O)=O Gmelin:1151904 chebi_ontology owl:Class CHEBI:26079 biolink:NamedThing phosphoric acid derivative tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:26078 biolink:NamedThing phosphoric acid A phosphorus oxoacid that consists of one oxo and three hydroxy groups joined covalently to a central phosphorus atom. tmpxe7fu0cj_hp_relaxed.owl trihydroxidooxidophosphorus|phosphoric acid|orthophosphoric acid|trihydrogen tetraoxophosphate(3-)|[PO(OH)3]|Phosphorsaeure|Phosphoric acid|acide phosphorique|tetraoxophosphoric acid|Orthophosphoric acid|acidum phosphoricum|Phosphate|Phosphorsaeureloesungen|H3PO4 0 H3O4P InChI=1S/H3O4P/c1-5(2,3)4/h(H3,1,2,3,4) NBIIXXVUZAFLBC-UHFFFAOYSA-N 97.99520 97.97690 [H]OP(=O)(O[H])O[H] PMID:22333268|Wikipedia:Phosphoric_Acid|PMID:22401268|Gmelin:2000|KEGG:C00009|PMID:17518491|PMID:17439666|PMID:22282755|PMID:22381614|KEGG:D05467|Beilstein:1921286|HMDB:HMDB0002142|PMID:11455380|PMID:15630224|CAS:7664-38-2|Reaxys:1921286|KNApSAcK:C00007408|Drug_Central:4478 chebi_ontology owl:Class HP:0003538 biolink:NamedThing Increased serum iduronate sulfatase level An increased level of iduronate-2-sulfatase activity in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased serum iduronate sulfatase UMLS:C2673363|UMLS:C4025599 Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene are associated with Mucopolysaccharidosis Type II. Increased serum iduronate-2-sulfatase is observed in mucolipidosis II alpha/beta. human_phenotype owl:Class Necc1abb3428440c4b42834898bd3f855 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd32f6d9595ab4a2580aca3fd7895f7b5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0099536 biolink:NamedThing synaptic signaling Cell-cell signaling to, from or within a synapse. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Ncc940106c2804c12b75f3b46ff38cad6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:18186 biolink:NamedThing tyrosine An alpha-amino acid that is phenylalanine bearing a hydroxy substituent at position 4 on the phenyl ring. tmpxe7fu0cj_hp_relaxed.owl tirosina|Tyrosine|Tyr|tyrosine|2-Amino-3-(p-hydroxyphenyl)propionic acid|3-(p-Hydroxyphenyl)alanine|2-amino-3-(4-hydroxyphenyl)propanoic acid|Y|Tyrosin 0 C9H11NO3 InChI=1S/C9H11NO3/c10-8(9(12)13)5-6-1-3-7(11)4-2-6/h1-4,8,11H,5,10H2,(H,12,13) OUYCCCASQSFEME-UHFFFAOYSA-N 181.18858 181.07389 NC(Cc1ccc(O)cc1)C(O)=O KNApSAcK:C00001397|KEGG:C01536|CAS:55520-40-6|Reaxys:515881|Beilstein:515881|CAS:556-03-6|Gmelin:27744|PMID:17190852 CHEBI:15277|CHEBI:9800|CHEBI:27176 chebi_ontology owl:Class CHEBI:32786 biolink:NamedThing tyrosinium An alpha-amino-acid cation that is the conjugate acid of tyrosine, arising from protonation of the amino group. tmpxe7fu0cj_hp_relaxed.owl 1-carboxy-2-(4-hydroxyphenyl)ethanaminium|tyrosine cation|tyrosinium +1 C9H12NO3 InChI=1S/C9H11NO3/c10-8(9(12)13)5-6-1-3-7(11)4-2-6/h1-4,8,11H,5,10H2,(H,12,13)/p+1 OUYCCCASQSFEME-UHFFFAOYSA-O 182.19652 182.08117 [NH3+]C(Cc1ccc(O)cc1)C(O)=O chebi_ontology owl:Class GO:0140572 biolink:NamedThing vacuole fission The division of a vacuole within a cell to form two or more separate vacuoles. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/20639 pg 2021-01-04T10:17:58Z biological_process owl:Class UBERON:0004510 biolink:NamedThing skeletal muscle tissue of pectoralis major A portion of skeletal muscle tissue that is part of a pectoralis major [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl skeletal muscle tissue of pectoralis major muscle FMA:261968 uberon owl:Class HP:0045058 biolink:NamedThing Abnormality of the testis size An anomaly of the size of the testicle (the male gonad). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073180 owl:Class Na42ab23d3d3f4ca086517a59dbde8033 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N25a5bc7e71b845aea6a885e40c8d3cd8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012241 biolink:NamedThing Levator palpebrae superioris atrophy Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851107 peter 2013-04-02T06:53:20Z owl:Class N55e415a267244b799438f044a7913df5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0046885 biolink:NamedThing regulation of hormone biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0042446 biolink:NamedThing hormone biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0005446 biolink:NamedThing foramen rotundum The foramen rotundum is a circular hole in the sphenoid bone that connects the middle cranial fossa and the pterygopalatine fossa. tmpxe7fu0cj_hp_relaxed.owl foramen rotundum of the skull|round foramen|foramen rotundum ossis sphenoidalis EHDAA:10629|VHOG:0001543|EMAPA:18712|EHDAA2:0000552|FMA:53154|AAO:0000194 http://upload.wikimedia.org/wikipedia/commons/3/35/Gray145.png uberon owl:Class A circular hole in the sphenoid bone that connects the middle cranial fossa and the pterygopalatine fossa.vity. [Wikipedia:Foramen_rotundum][VHOG] It is suggested that the mammalian lamina ascendens arose from an upgrowth of the root of the quadrate ramus of the epipterygoid in cynodonts, separating foramen rotundum from foramen ovale.[well established][VHOG] todo - check placement of AAO class UBERON:0000377 biolink:NamedThing maxillary nerve The sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the palate, upper teeth and gingiva, the skin between the palpebral fissure and the mouth, and from the nasal cavity and maxillary sinuses. tmpxe7fu0cj_hp_relaxed.owl maxillary nerve [Vb]|nervus maxillaris [vb]|maxillary division [V2]|trigeminal nerve maxillary division|nervus maxillaris (Vb; V2)|trigeminal V nerve maxillary division|nervus maxillaris|maxillary nerve [V2]|second division of trigeminal nerve|ramus maxillaris (ramus V2)|nervus maxillaris [v2]|maxillary division of fifth cranial nerve|maxillary division [Vb]|n. maxillaris|second division of fifth cranial nerve|maxillary division of trigeminal nerve (Vb; V2) BTO:0001378|EHDAA2:0002087|Wikipedia:Maxillary_nerve|SCTID:280211001|MA:0001103|AAO:0010670|VHOG:0001346|EMAPA:17799|OpenCyc:Mx4rvWNU9JwpEbGdrcN5Y29ycA|GAID:836|MESH:D008442|FMA:52724 http://upload.wikimedia.org/wikipedia/commons/a/a9/Gray779.png uberon owl:Class Medial ramus (sensory) of the trigeminal nerve.[AAO] relationship loss: part_of trunk maxillary-mandibularis (AAO:0010669)[AAO] HP:0009978 biolink:NamedThing Complete duplication of the distal phalanx of the 4th finger Complete duplication of the distal phalanx of ring finger. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the outermost bone of the ring finger UMLS:C4024133 doelkens 2009-05-26T02:20:23Z human_phenotype owl:Class Nbcf7922e90ba43ecbf65a4426fd27b57 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010337 biolink:NamedThing mandibular process mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a mandibular process mesenchyme. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004604 uberon owl:Class N61a6a9b8fc984e42a2b2edb28986ba23 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0030312 biolink:NamedThing external encapsulating structure A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space. tmpxe7fu0cj_hp_relaxed.owl The outer membrane (of gram negative bacteria) or cell wall (of yeast or Gram positive bacteria) are defined as parts of this structure, see 'external encapsulating structure part'. cellular_component owl:Class GO:0003348 biolink:NamedThing cardiac endothelial cell differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cardiac endothelial cell. tmpxe7fu0cj_hp_relaxed.owl dph 2009-12-01T11:12:05Z biological_process owl:Class CL:0010008 biolink:NamedThing cardiac endothelial cell tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0003147 biolink:NamedThing neural crest cell migration involved in heart formation The characteristic movement of a cell from the dorsal ridge of the neural tube towards the heart and that contributes to heart formation. tmpxe7fu0cj_hp_relaxed.owl tb 2009-09-22T04:29:55Z biological_process owl:Class GO:0061308 biolink:NamedThing cardiac neural crest cell development involved in heart development The process aimed at the progression of a cardiac neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell that contributes to the development of the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2010-09-23T09:01:49Z biological_process owl:Class HP:0012110 biolink:NamedThing Hypoplasia of the pons Underdevelopment of the pons. tmpxe7fu0cj_hp_relaxed.owl Pontine hypoplasia UMLS:C1848529 peter 2012-09-10T05:35:36Z owl:Class N5fea37ba10e74a199e7e75a7cfd49e8c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007705 biolink:NamedThing Corneal degeneration tmpxe7fu0cj_hp_relaxed.owl UMLS:C0155118|SNOMEDCT_US:111521006 human_phenotype owl:Class N0034306e2d384989a78bab986d242e5e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001655 biolink:NamedThing Patent foramen ovale Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. tmpxe7fu0cj_hp_relaxed.owl Persistent foramen ovale UMLS:C0016522|ICD-10:Q21.1|Fyler:2020|SNOMEDCT_US:204317008|MSH:D054092 The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut. owl:Class N238b146bf95b4b69bc36033e0d4579ff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003411 biolink:NamedThing cell motility involved in camera-type eye morphogenesis Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another and contributes to the physical shaping or formation of the camera-type eye. tmpxe7fu0cj_hp_relaxed.owl dph 2009-12-21T03:04:27Z biological_process owl:Class HP:0100394 biolink:NamedThing Short middle phalanx of the 5th toe Developmental hypoplasia of the middle phalanx of the 5th toe. tmpxe7fu0cj_hp_relaxed.owl Short middle phalanx of the fifth toe|Short middle bone of little toe|Hypoplastic/small middle phalanx of the 5th toe|Short middle bone of pinkie toe|Short middle bone of pinky toe UMLS:C4021003 human_phenotype owl:Class Naee5c0e7af7b42efbc22fd547f5053da biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1905459 biolink:NamedThing regulation of vascular associated smooth muscle cell apoptotic process Any process that modulates the frequency, rate or extent of vascular associated smooth muscle cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of VSMC apoptotic process|regulation of vascular associated smooth muscle cell apoptosis|regulation of VSMC apoptosis|regulation of vascular smooth muscle cell apoptotic process|regulation of vascular smooth muscle cell apoptosis rph 2016-09-19T11:33:54Z biological_process owl:Class GO:1905288 biolink:NamedThing vascular associated smooth muscle cell apoptotic process Any apoptotic process in a vascular associated smooth muscle cell. tmpxe7fu0cj_hp_relaxed.owl vascular smooth muscle cell apoptosis|vascular smooth muscle cell apoptotic process|VSMC apoptotic process|vascular associated smooth muscle cell apoptosis|VSMC apoptosis rph 2016-06-23T13:24:20Z biological_process owl:Class UBERON:0013170 biolink:NamedThing cricoarytenoid ligament Laryngeal ligament that connects the cricoid and arytenoid cartilages[WP,modified]. tmpxe7fu0cj_hp_relaxed.owl ligamentum cricoaryteneoideum|crico-arytenoid ligament FMA:55261 uberon owl:Class Nd0855017d5c04a9d9372a8232f9ea4b3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012728 biolink:NamedThing Fusiform descending thoracic aortic aneurysm A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall tmpxe7fu0cj_hp_relaxed.owl Dilatation of the fusiform descending thoracic aorta UMLS:C4022753 Aneurysm is considered a severe form of dilatation. peter 2014-03-23T02:26:12Z human_phenotype owl:Class N2f215e027d8b40ee922a74259dfba4f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:000001003 biolink:NamedThing CD34 molecule A protein that is a translation product of the human CD34 gene or a 1:1 ortholog thereof. It is a leukocyte membrane protein expressed specifically by lymphohematopoietic progenitor cells. It contains a single-pass transmembrane domain and that show distinct expression on early hematopoietic precursors and vascular-associated tissue. Acts as a scaffold that presents selectin carbohydrate ligands in a clustered, tissue specific manner to allow for higher avidity interactions between leukocytes and endothelial cells during the inflammatory process. In common with related sialomucins (endoglycan and podocalyxin), the extracellular region is dominated by an N-terminal mucin-like domain, which is densely substituted with sialylated O-linked carbohydrates. The mucin-like region is followed by a cysteine-containing and presumably globular domain. This domain may fold into an immunoglobulin-like structure as the positions of 2 of the cysteines are conserved in the C2 set of the immunoglobulin superfamily. The cytoplasmic domain is around 73-76 residues long and highly conserved. tmpxe7fu0cj_hp_relaxed.owl hematopoietic progenitor cell antigen CD34|CD34 PIRSF:PIRSF028749 Category=gene. Requested by=CL. protein owl:Class N0f54ca8b969244b7a06686ac9f2177af biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nba2b0e8a282c4d9d9188a5ef5b4aae77 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000304 biolink:NamedThing tendon sheath A layer of membrane around a tendon. It has 2 layers: synovial sheath + fibrous tendon sheath. tmpxe7fu0cj_hp_relaxed.owl synovial tendon sheath|vagina tendinis Wikipedia:Tendon_sheath|FMA:76715|SCTID:361885006|FMA:45087|BTO:0000051|UMLS:C0224856|NCIT:C96299 TODO - add layer relations. 'tendon sheath' GAT in FMA. uberon owl:Class UBERON:0011234 biolink:NamedThing fibrous membrane of synovial tendon sheath tmpxe7fu0cj_hp_relaxed.owl FMA:40877 uberon owl:Class UBERON:0000454 biolink:NamedThing cerebral subcortex The layer located below the cerebral cortex that includes the forebrain, midbrain and hindbrain. tmpxe7fu0cj_hp_relaxed.owl cerebral medulla|subcortex UMLS:C0815008|NCIT:C98712|BTO:0002858|FMA:242188 uberon owl:Class HP:0000968 biolink:NamedThing Ectodermal dysplasia Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. tmpxe7fu0cj_hp_relaxed.owl MSH:D004476|SNOMEDCT_US:8654005|SNOMEDCT_US:254154003|UMLS:C0013575 This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future. HP:0007615 owl:Class Nbd3298b1982040c59816e1cf799d164e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008281 biolink:NamedThing tooth bud A knoblike tooth primordium that develops into the mature tooth and consists of enamel organ, dental papilla, and dental sac enclosing them. tmpxe7fu0cj_hp_relaxed.owl dental bud|dental germ|tooth germ MESH:A14.254.900.720|FMA:306006|BTO:0001838|UMLS:C0040442|NCIT:C34313 uberon owl:Class GO:0022617 biolink:NamedThing extracellular matrix disassembly A process that results in the breakdown of the extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N8aabe3dae8564c43aa010b7cbd3f3c14 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100559 biolink:NamedThing Lower limb asymmetry A difference in length or diameter between the left and right leg. tmpxe7fu0cj_hp_relaxed.owl Left and right leg differ in length or width|Leg length discrepancy SNOMEDCT_US:45939007|UMLS:C0023221|MSH:D007870 doelkens 2010-12-21T04:04:27Z human_phenotype owl:Class N3ae13d8af4f5451e9406da798aec2f4a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009501 biolink:NamedThing mesenchyme of fronto-nasal process The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the frontonasal region of the head. tmpxe7fu0cj_hp_relaxed.owl frontonasal mesenchyme|naso-frontal mesenchyme EHDAA2:0004109|EMAPA:16683|FMA:295821 uberon owl:Class UBERON:0004736 biolink:NamedThing metanephric glomerulus Glomerulus of the mature vertebrate kidney, or metanephros. tmpxe7fu0cj_hp_relaxed.owl glomerulus of metanephros VHOG:0001242 uberon owl:Class UBERON:0003956 biolink:NamedThing aqueous drainage system The structures associated with drainage of the aqueous humor from the eye, that include the trabecular meshwork, Schlemm's canal, the uveoscleral network, and the aqueous veins. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37427 uberon owl:Class CHEBI:37838 biolink:NamedThing carboacyl group A carboacyl group is a group formed by loss of at least one OH from the carboxy group of a carboxylic acid. tmpxe7fu0cj_hp_relaxed.owl carboxylic acyl group|carboxylic acyl groups|carboacyl groups chebi_ontology owl:Class PR:P05187 biolink:NamedThing alkaline phosphatase, placental type (human) An alkaline phosphatase, placental type that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl ALPP|PLAP|alkaline phosphatase Regan isozyme (human)|PLAP-1 (human)|hALPP|placental alkaline phosphatase 1 (human) UniProtKB:P05187 Category=organism-gene. protein owl:Class UBERON:0001177 biolink:NamedThing left hepatic duct The duct that drains bile from the left half of the liver and joins the right hepatic duct to form the common hepatic duct. tmpxe7fu0cj_hp_relaxed.owl ductus hepaticus sinister VHOG:0000218|MA:0001638|EHDAA:3990|EHDAA2:0000941|FMA:14670|NCIT:C32960|EMAPA:32795|UMLS:C0227560 uberon owl:Class The duct which drains bile from the left half of the liver and unites with the right hepatic duct to form the common hepatic duct. [adapted_from_http://www.medterms.com/script/main/art.asp?articlekey=26032][VHOG] UBERON:0001115 biolink:NamedThing left lobe of liver The left lobe is smaller and more flattened than the right. It is situated in the epigastric and left hypochondriac regions. Its upper surface is slightly convex and is moulded on to the diaphragm; its under surface presents the gastric impression and omental tuberosity. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl lobus hepatis sinister|left liver lobe|left hepatic lobe|liver left lobe|lobus hepaticus sinister MA:0000361|VHOG:0001423|NCIT:C32965|FMA:13363|TAO:0005172|EHDAA:3995|EMAPA:18307|EHDAA2:0001000|ZFA:0005172|UMLS:C0227486 http://upload.wikimedia.org/wikipedia/commons/a/a3/Gray1087-liver.png uberon owl:Class Portion of the liver which develops on the fish's left side.[TAO] UBERON:0003858 biolink:NamedThing lower eyelid mesenchyme Mesenchyme that is part of a developing lower eyelid [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of lower eyelid|mesenchyme of inferior eyelid|inferior eyelid mesenchyme EMAPA:17833|VHOG:0001036|EHDAA:9045|EHDAA2:0001017 uberon owl:Class HP:0005063 biolink:NamedThing Fragmented, irregular epiphyses tmpxe7fu0cj_hp_relaxed.owl Fragmented, irregular end part of bone UMLS:C1867494 human_phenotype owl:Class N8c45da567d864092abae7c353aeae768 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1e74e569689d4177b20d3628981a15fb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbcec9b1efc5a459db7d622e29c942a54 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne02fae1b1dee48538c74dd593780da4d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002827 biolink:NamedThing vestibulocochlear ganglion The group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia. tmpxe7fu0cj_hp_relaxed.owl vestibulocochlear ganglia|nucleus nervi oculomotorii ventrolateralis|SAG|statoacoustic (VIII) ganglion|acoustic ganglion|acoustico-vestibular VIII ganglion|acoustic ganglion VIII|auditory ganglion|ganglion VIII|gVIII|vestibulocochlear VIII ganglion|statoacoustic ganglion|statoacoustic VIII ganglion|statoacoustic ganglia|nucleus nervi oculomotorii, pars ventralis EMAPA:17571|ZFA:0000588|EMAPA:16982|TAO:0000588|MA:0001084|VHOG:0000696|UMLS:C0037959|EHDAA2:0002196|BIRNLEX:2564|EFO:0003543|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=496|EHDAA:6653|XAO:0004142|EHDAA:5569 Consider follow MA naming scheme. uberon owl:Class The sensory ganglion of the ear. (See Anatomical Atlas entry for statoacoustic ganglion by T. Whitfield.)[TAO] (During the development of the inner ear in a vertebrate embryo) As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII.[well established][VHOG] The cell bodies of the cochlear nerve lie within the central aspect of the cochlea and are collectively known as the spiral ganglion. This name reflects the fact that the cell bodies, considered as a unit, have a spiral (or perhaps more accurately, a helical) shape, reflecting the shape of the cochlea. The terms 'cochlear nerve fiber' and 'spiral ganglion cell' are used, to some degree, interchangeably, although the former may be used to more specifically refer to the central axons of the cochlear nerve. These central axons exit the cochlea at its base, where it forms a nerve trunk. In humans, this aspect of the nerve is roughly one inch in length. It projects centrally to the brainstem, where its fibers synapse with the cell bodies of the cochlear nucleus N87383bfab33e434287f3e12454048170 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010390 biolink:NamedThing lumen of urethra An organ cavity that is part of a urethra. tmpxe7fu0cj_hp_relaxed.owl urethral lumen FMA:19709 uberon owl:Class UBERON:0014488 biolink:NamedThing middle phalanx of digit 2 A middle phalanx that is part of a digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl middle phalanx of index digit|intermediate phalanx of 2nd digit|digit II P2|intermediate phalanx of second digit|digit 2 middle phalanx|2nd digit intermediate phalanx|middle phalanx of 2nd digit|digit 2 intermediate phalanx|2nd digit of middle phalanx|second middle phalanx|2nd digit of intermediate phalanx|middle phalanx of second digit|middle phalanx of digit II|intermediate phalanx of digit 2|second digit intermediate phalanx|second digit middle phalanx|2nd digit middle phalanx uberon owl:Class UBERON:0006049 biolink:NamedThing digit 2 A digit that is part of a digit 2 plus metapodial segment. tmpxe7fu0cj_hp_relaxed.owl digit II|limb digit 2|autopod digit 2|second digit EMAPA:37286 uberon owl:Class 2 UBERON:0004275 biolink:NamedThing third ventricle choroid plexus epithelium A choroid plexus epithelium that is part of a third ventricle [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of choroid plexus of third ventricle|third ventricle choroid plexus epithelial tissue|third ventricle epithelium of choroid plexus|chorioid plexus of cerebral hemisphere epithelial tissue of third ventricle|third ventricle epithelium of chorioid plexus of cerebral hemisphere|third ventricle chorioid plexus of cerebral hemisphere epithelium|third ventricle epithelial tissue of chorioid plexus of cerebral hemisphere|choroid plexus epithelial tissue of third ventricle|choroid plexus epithelium of third ventricle|chorioid plexus of cerebral hemisphere epithelium of third ventricle|third ventricle chorioid plexus of cerebral hemisphere epithelial tissue|epithelium of choroid plexus of third ventricle|third ventricle epithelial tissue of choroid plexus|epithelial tissue of chorioid plexus of cerebral hemisphere of third ventricle|epithelium of chorioid plexus of cerebral hemisphere of third ventricle EMAPA:37055|MA:0000880|FMA:242821 uberon owl:Class UBERON:0002288 biolink:NamedThing choroid plexus of third ventricle Part of choroid plexus contained in the third ventricle. tmpxe7fu0cj_hp_relaxed.owl third ventricle chorioid plexus of cerebral hemisphere|3rd ventricle choroid plexus|chorioid plexus of third ventricle|choroid plexus third ventricle|chorioid plexus of cerebral hemisphere of third ventricle|diencephalic choroid plexus|third ventricle choroid plexus UMLS:C0152291|VHOG:0001374|BAMS:chp3|NCIT:C49782|BAMS:cp3v|HBA:9709|NLX:18606|FMA:78462|MA:0000879|ZFA:0001444|TAO:0001444|EMAPA:18543 uberon owl:Class N9576c982a0f94575be1318138f9e2d37 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000060 biolink:NamedThing odontoblast Skeletogenic cell that secretes dentine matrix, is derived from the odontogenic papilla, and develops from a preodontoblast cell. tmpxe7fu0cj_hp_relaxed.owl FMA:62999|CALOHA:TS-0696|BTO:0001769 legacy def: One of the cells forming the outer surface of dental pulp that produces tooth dentin. cell owl:Class HP:0001595 biolink:NamedThing Abnormal hair morphology An abnormality of the hair. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the hair|Hair abnormality|Abnormality of the hair shaft UMLS:C2677869|UMLS:C0157733 owl:Class N3653f830f0d1426fb4e496314ae51f9e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011492 biolink:NamedThing Abnormality of corneal stroma An abnormality of the stroma of cornea, also known as the substantia propria of cornea. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023328 peter 2012-04-02T10:28:49Z human_phenotype owl:Class N2da3f4e517774790b82120b17505cdc4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na561ba0f1eff4d309c370a131664c449 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3ec1ca62904a4346bfb0395f4c6a0326 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004126 biolink:NamedThing trabecular layer of ventricle A myocardium trabecular layer that is part of a cardiac ventricle. tmpxe7fu0cj_hp_relaxed.owl trabecular cardiac ventricle muscle|myocardium of region of ventricle|ventricular trabecular myocardium FMA:83511|TAO:0005060|ZFA:0005060 TODO - check FMA uberon owl:Class GO:0002371 biolink:NamedThing dendritic cell cytokine production Any process that contributes to cytokine production by a dendritic cell. tmpxe7fu0cj_hp_relaxed.owl Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select one of the 'regulation' children terms. biological_process owl:Class Nc84ff98ab5aa4560acef04b98902b599 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000871 biolink:NamedThing Panhypopituitarism A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:32390006|UMLS:C0242343|MSH:C580003 human_phenotype owl:Class N48fe25d1175b4e18969f47bbb3fe7102 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0070234 biolink:NamedThing positive regulation of T cell apoptotic process Any process that activates or increases the frequency, rate or extent of T cell death by apoptotic process. tmpxe7fu0cj_hp_relaxed.owl upregulation of T cell apoptosis|up-regulation of T cell apoptosis|stimulation of T cell apoptosis|activation of T cell apoptosis|positive regulation of T-lymphocyte apoptosis|up regulation of T cell apoptosis|positive regulation of T lymphocyte apoptosis|positive regulation of T-cell apoptosis|positive regulation of programmed cell death of T cells by apoptosis|positive regulation of T cell apoptosis biological_process owl:Class GO:0070231 biolink:NamedThing T cell apoptotic process Any apoptotic process in a T cell, a type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. tmpxe7fu0cj_hp_relaxed.owl T lymphocyte apoptosis|programmed cell death of T cells by apoptosis|T-cell apoptosis|T-lymphocyte apoptosis|T cell apoptosis biological_process owl:Class CHEBI:27897 biolink:NamedThing tryptophan An alpha-amino acid that is alanine bearing an indol-3-yl substituent at position 3. tmpxe7fu0cj_hp_relaxed.owl tryptophan|2-amino-3-(1H-indol-3-yl)propanoic acid|Trp|triptofano|alpha-Amino-beta-(3-indolyl)-propionic acid|beta-3-indolylalanine|Tryptophan|W|Htrp|tryptophane|alpha-amino-beta-3-indolepropionic acid 0 C11H12N2O2 InChI=1S/C11H12N2O2/c12-9(11(14)15)5-7-6-13-10-4-2-1-3-8(7)10/h1-4,6,9,13H,5,12H2,(H,14,15) QIVBCDIJIAJPQS-UHFFFAOYSA-N 204.22526 204.08988 NC(Cc1c[nH]c2ccccc12)C(O)=O Gmelin:4532|KNApSAcK:C00001396|Beilstein:86196|PMID:17439666|CAS:54-12-6|PMID:22264337|Reaxys:86196|LINCS:LSM-36836|Wikipedia:Tryptophan|KEGG:C00806 CHEBI:27163|CHEBI:9769 chebi_ontology owl:Class CHEBI:30751 biolink:NamedThing formic acid The simplest carboxylic acid, containing a single carbon. Occurs naturally in various sources including the venom of bee and ant stings, and is a useful organic synthetic reagent. Principally used as a preservative and antibacterial agent in livestock feed. Induces severe metabolic acidosis and ocular injury in human subjects. tmpxe7fu0cj_hp_relaxed.owl Formic acid|formic acid|Methanoic acid|Ameisensaeure|formylic acid|hydrogen carboxylic acid|FORMIC ACID|Acide formique|HCO2H|methoic acid|bilorin|aminic acid|HCOOH|H-COOH 0 CH2O2 InChI=1S/CH2O2/c2-1-3/h1H,(H,2,3) BDAGIHXWWSANSR-UHFFFAOYSA-N 46.02538 46.00548 [H]C(O)=O PMID:18397576|PMID:22447125|PMID:16465784|LIPID_MAPS_instance:LMFA01010040|PMID:16120414|PMID:22606986|Patent:CN101481304|Wikipedia:Formic_acid|MetaCyc:FORMATE|Gmelin:1008|PMID:16445901|HMDB:HMDB0000142|PMID:16222862|PMID:12591956|PMID:14637377|PMID:22622393|PMID:3946945|PMID:22385261|PMID:15811469|PDBeChem:FMT|PMID:22483350|PMID:22080171|PMID:22280475|Beilstein:1209246|BPDB:1749|PMID:16230297|DrugBank:DB01942|Reaxys:1209246|PMID:7361809|PMID:16185830|CAS:64-18-6|KEGG:C00058|PMID:22540994|PMID:18034701|KNApSAcK:C00001182|PMID:22499553|PMID:22304812 CHEBI:42460|CHEBI:5145|CHEBI:24082 chebi_ontology owl:Class CHEBI:48356 biolink:NamedThing protic solvent A polar solvent that is capable of acting as a hydron (proton) donor. tmpxe7fu0cj_hp_relaxed.owl protogenic solvent chebi_ontology owl:Class UBERON:0015844 biolink:NamedThing molar dental papilla tmpxe7fu0cj_hp_relaxed.owl molar odontogenic papilla|molar tooth odontogenic papilla MA:0003232|EMAPA:32882 uberon owl:Class UBERON:0003655 biolink:NamedThing molar tooth Molars are the rearmost and most complicated kind of tooth in most mammals. tmpxe7fu0cj_hp_relaxed.owl molaris|dens molaris|molar BTO:0001759|MA:0000350|UMLS:C0026367|MESH:A14.254.860.525|EMAPA:32897|FMA:55638|CALOHA:TS-0637|NCIT:C33136 uberon owl:Class Adult humans have twelve molars, in four groups of three at the back of the mouth. The third, rearmost molar in each group is called a wisdom tooth. It is the last tooth to appear, breaking through the surface of the gum at about the age of twenty, although this varies from individual to individual. Ethnicity can also have an impact on the age at which this occurs, with statistical variations between groups. The human mouth contains upper (maxillary) and lower (mandibular) molars. They are: maxillary first molar, maxillary second molar, maxillary third molar, mandibular first molar, mandibular second molar, and mandibular third molar. UBERON:0006965 biolink:NamedThing vascular cord The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]. tmpxe7fu0cj_hp_relaxed.owl TAO:0005077|ZFA:0005077|EFO:0003709 uberon owl:Class GO:0048754 biolink:NamedThing branching morphogenesis of an epithelial tube The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. tmpxe7fu0cj_hp_relaxed.owl tubulogenesis biological_process owl:Class UBERON:0002515 biolink:NamedThing periosteum The thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints. tmpxe7fu0cj_hp_relaxed.owl BTO:0001022|NCIT:C13184|MA:0002838|MESH:D010521|GAID:925|FMA:24041|EMAPA:35681|galen:PeriOsteum|UMLS:C0031110 Bone:growth.png uberon owl:Class periosteal UBERON:0005740 biolink:NamedThing tunica intima of artery A tunica intima that is part of a artery. tmpxe7fu0cj_hp_relaxed.owl tunica interna (intima)(arteriae)|arterial intima SCTID:40022005|galen:IntimaOfArtery|FMA:14272|EV:0100028|EMAPA:36293 uberon owl:Class PR:000005307 biolink:NamedThing CCAAT/enhancer-binding protein alpha A protein that is a translation product of the human CEBPA gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl CEBP|CEBPA|C/EBP alpha Category=gene. Requested by=CL. protein owl:Class HP:0100523 biolink:NamedThing Liver abscess The presence of an abscess of the liver. tmpxe7fu0cj_hp_relaxed.owl Hepatic abscess|Liver abscess MSH:D008100|UMLS:C0023885|SNOMEDCT_US:27916005 doelkens 2010-12-20T11:13:14Z HP:0001400 owl:Class Nc95d61e422454f50a0558a43ad4c0714 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:17968 biolink:NamedThing butyrate A short-chain fatty acid anion that is the conjugate base of butyric acid, obtained by deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl butanoate|1-butyrate|CH3-[CH2]2-COO(-)|butanoic acid, ion(1-)|propylformate|1-butanoate|n-butyrate|butyrate|n-butanoate|1-propanecarboxylate|butanate|propanecarboxylate -1 C4H7O2 InChI=1S/C4H8O2/c1-2-3-4(5)6/h2-3H2,1H3,(H,5,6)/p-1 FERIUCNNQQJTOY-UHFFFAOYSA-M 87.09718 87.04515 CCCC([O-])=O UM-BBD_compID:c0035|PMID:17190852|Gmelin:324289|Beilstein:3601060|MetaCyc:BUTYRIC_ACID|CAS:461-55-2|KEGG:C00246|Reaxys:3601060|PMID:7496326 CHEBI:22946|CHEBI:13924 chebi_ontology owl:Class UBERON:0001343 biolink:NamedThing seminiferous tubule of testis The tubules in the testes where spermatogenesis occurs. tmpxe7fu0cj_hp_relaxed.owl tubuli seminiferi|testis - seminiferous tubule|seminiferous cord|seminiferous tubule AAO:0010399|EFO:0001404|NCIT:C13047|CALOHA:TS-1239|MESH:D012671|VHOG:0001363|MA:0000412|NCIT:C34293|MAT:0000503|UMLS:C0036630|EMAPA:18685|FMA:19825|XAO:0003088|UMLS:C1519236|BTO:0001235|EMAPA:31476|EV:0100380|GAID:400 http://upload.wikimedia.org/wikipedia/commons/6/6a/Gray1145.png|http://upload.wikimedia.org/wikipedia/commons/4/49/Seminiferous_tubule_and_sperm_low_mag.jpg uberon owl:Class Any of the coiled tubules located in the testes in which spermatozoa are produced.[AAO]|One of two or three twisted curved tubules in each lobule of the testis in which spermatogenesis occurs. [TFD][VHOG] Frogs among amphibians and the amniotes have males with testes that are composed of seminiferous tubules, which differ from ampullae in being long, highly convoluted ductules.[well established][VHOG] UBERON:0006664 biolink:NamedThing greater palatine artery The greater palatine artery is a terminal branch of the maxillary artery. It branches off of the maxillary artery in the pterygopalatine fossa and descends through the greater palatine foramen along with the greater palatine nerve and supplies the hard palate. It also anastomosis through the incisive canal with the sphenopalatine artery to supply the nasal cavity. tmpxe7fu0cj_hp_relaxed.owl arteria palatina major|major palatine artery FMA:49795|MA:0001993|EMAPA:18754 TODO - check for synonymy between greater and major; branching_part_of relation is made in FMA at level of descending GPA uberon owl:Class UBERON:0001667 biolink:NamedThing tibialis posterior The Tibialis posterior is the most central of all the leg muscles, and is located in the posterior compartment of the leg. It is the key stabilizing muscle of the lower leg. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl musculus tibialis posterior|ibialis posticus|posterior tibialis|tibialis posterior muscle|tibialis caudalis MA:0002394|FMA:51099|UMLS:C1711425|BTO:0000867|EMAPA:36255|NCIT:C53078 http://upload.wikimedia.org/wikipedia/commons/9/92/Gray442.png uberon owl:Class CL:0002087 biolink:NamedThing nongranular leukocyte A leukocyte that lacks granules. tmpxe7fu0cj_hp_relaxed.owl agranular leukocyte FMA:62855 tmeehan 2010-07-22T11:30:33Z cell owl:Class GO:0030141 biolink:NamedThing secretory granule A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. tmpxe7fu0cj_hp_relaxed.owl secretory vesicle Note that the term 'secretory vesicle' is sometimes used in this sense, but can also mean 'transport vesicle ; GO:0030133'. cellular_component owl:Class UBERON:0006682 biolink:NamedThing hypoglossal canal The hypoglossal canal is a bony canal in the occipital bone of the skull. tmpxe7fu0cj_hp_relaxed.owl canalis nervi hypoglossi|hyperglossal canal|anterior condylar canal SCTID:139380001|FMA:75370|EMAPA:19012|Wikipedia:Hypoglossal_canal uberon owl:Class UBERON:0003117 biolink:NamedThing pharyngeal arch 6 The 6th pharyngeal arch. contributes to the development of the sternocleidomastoid and trapezius muscles. tmpxe7fu0cj_hp_relaxed.owl branchial arch 4|fourth branchial arch|6th pharyngeal arch|visceral arch 6|sixth pharyngeal arch|gill arch 4|6th visceral arch|sixth visceral arch|sixth branchial arch|6th arch FMA:293047|ZFA:0001609|EHDAA2:0004075|SCTID:308772004|AAO:0010368|EMAPA:32766|VHOG:0001205|TAO:0001601|XAO:0000453 UBERON:0004349 uberon owl:Class The forth in a series of paired bars in the wall of the pharynx, within which are formed the forth aortic arch and the cartilage bar of the visceral skeleton, forms and supports the gills.[AAO] A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] 6 UBERON:0001431 biolink:NamedThing distal carpal bone 2 tmpxe7fu0cj_hp_relaxed.owl distal carpal 2|manus distal carpal bone 2|lesser multangular|carpal 2|hand distal carpal bone 2|os trapezoideum|lesser multangular bone|trapezoid|trapezoid bone|lesser multiangular OpenCyc:Mx4rvxNWBJwpEbGdrcN5Y29ycA|VSAO:0005044|UMLS:C0223741|MA:0001341|EMAPA:36174|AAO:0000848|OpenCyc:Mx4rvVvsjpwpEbGdrcN5Y29ycA|NCIT:C12859|galen:Trapezoid|FMA:23724 uberon owl:Class Small element that articulates with the prepollex, metacarpal II(I) and metacarpal III(II). It may be fused to element Y or carpal 3(2).[AAO]|The trapezoid bone (lesser multangular bone) is a carpal bone in tetrapods, including humans. It is the smallest bone in the distal row. It may be known by its wedge-shaped form, the broad end of the wedge constituting the dorsal, the narrow end the palmar surface; and by its having four articular facets touching each other, and separated by sharp edges. It is homologous with the 'second distal carpal' of reptiles and amphibians. The etymology derives from the Greek trapezion which means 'irregular quadrilateral,' from tra- 'four' and peza 'foot' or 'edge. ' Literally, 'a little table' from trapeza meaning 'table' and -oeides 'shaped.[Wikipedia:Trapezoid_bone] located in the distal part of the carpus and articulating with the second metacarpal, the distal carpals 1 and 2 and the radiale.[VSAO] in humans - The capitate articulates with 2nd metacarpal distally, scaphoid proximally, trapezium medially, capitate medially[WP] Amphibians: Small element that articulates with the prepollex, metacarpal II(I) and metacarpal III(II). It may be fused to element Y or carpal 3(2) UBERON:0000026 biolink:NamedThing appendage Major subdivision of an organism that protrudes from the body[DOS, CARO]. tmpxe7fu0cj_hp_relaxed.owl extremity|appendages|limbs/digits/tail|extremitaet CARO:0010003|EHDAA2:0003193|UMLS:C0598782|OpenCyc:Mx4rvViC-JwpEbGdrcN5Y29ycA|BTO:0001492|MAT:0000023|BILA:0000018|Wikipedia:Appendage|VSAO:0000075|NCIT:C61460|MESH:D005121|MIAA:0000023|AEO:0000193|HAO:0000144|FBbt:00007000|XAO:0000218|EV:0100155|EMAPA:37283|EFO:0000799 uberon owl:Class Organ or organ part that is attached to the body of an organism. For example a limb[GO, modified][GO:0048736].|An appendage is an external body part, or natural prolongation, that protrudes from an organism's body, such as a vertebrate's limbs[BILA][BILA:0000018]. appendicular this is currently a subtype of organism subdivision - which would exclude feathers HP:0008447 biolink:NamedThing Hypoplastic coccygeal vertebrae tmpxe7fu0cj_hp_relaxed.owl UMLS:C2751480 human_phenotype owl:Class N5dfda03ebc0f40d9b1569b22f964afc9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410065 biolink:NamedThing Increased level of hippuric acid in blood An increase in the level of hippuric acid in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased level of N-benzoylglycine in blood 2018-01-29 22:41:34+00:00 ORCID:0000-0001-5208-3432 owl:Class Nd253b3118f714e10a3ba6ab2b6e797ad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0018604 biolink:NamedThing upper lateral incisor tooth An incisor tooth that is in_the_lateral_side_of a dentition and is part of a upper jaw region. tmpxe7fu0cj_hp_relaxed.owl upper lateral incisor|maxillary lateral incisor FMA:290194 uberon owl:Class UBERON:0015420 biolink:NamedThing ureteral valve A valve that is part of a ureter. tmpxe7fu0cj_hp_relaxed.owl valve or ureter|ureteral valve MA:0002658|EMAPA:37781 uberon owl:Class UBERON:0010887 biolink:NamedThing tragus A small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the meatus. tmpxe7fu0cj_hp_relaxed.owl tragal part of pinna UMLS:C0229312|NCIT:C33801|FMA:60998 uberon owl:Class The tragus is generally believed to play a role in vertical sound localization in bats GO:0002521 biolink:NamedThing leukocyte differentiation The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. tmpxe7fu0cj_hp_relaxed.owl immune cell differentiation|leucocyte differentiation biological_process owl:Class GO:0044346 biolink:NamedThing fibroblast apoptotic process Any apoptotic process in a fibroblast, a connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. tmpxe7fu0cj_hp_relaxed.owl fibroblast apoptosis jl 2010-09-23T11:33:38Z biological_process owl:Class UBERON:0002299 biolink:NamedThing alveolus of lung Spherical outcropping of the respiratory bronchioles and primary site of gas exchange with the blood. Alveoli are particular to mammalian lungs. Different structures are involved in gas exchange in other vertebrates[WP]. tmpxe7fu0cj_hp_relaxed.owl pulmonary alveolus|alveolus pulmonis|alveolus|respiratory alveoli|respiratory alveolus|alveoli|lung alveolus EMAPA:32682|MA:0000420|EV:0100043|MESH:D011650|VHOG:0001445|GAID:349|BTO:0000060|EFO:0001985|CALOHA:TS-0031|FMA:7318 Alveolus:diagram.svg uberon owl:Class GO:0001885 biolink:NamedThing endothelial cell development The progression of an endothelial cell over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0005214 biolink:NamedThing inner renal medulla interstitium A portion of interstitial tissue that is part of a inner medulla of kidney [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl inner medullary interstitium|kidney inner medulla interstitium|papillary interstitium MA:0002620|EMAPA:28364 uberon owl:Class UBERON:0005211 biolink:NamedThing renal medulla interstitium Tissue surrounding the loop of Henle in the renal medulla. tmpxe7fu0cj_hp_relaxed.owl kidney medulla interstitium|renal medullary interstitium|renal medullary interstitial tissue|medullary stroma|medullary interstitium MA:0002619|EMAPA:18326 uberon owl:Class It functions in renal water reabsorption by building up a high hypertonicity, which draws water out of the thin descending limb of the loop of Henle and the collecting duct system. This hypertonicity, in turn, is created by an efflux of urea from the inner medullary collecting duct. CHEBI:15681 biolink:NamedThing alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide A sialodiosylceramide consisting of the trisaccharide alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc attached to the primary hydroxy function of ceramide. tmpxe7fu0cj_hp_relaxed.owl alpha-Neu5Ac-(2->3)-beta-D-Galp-(1->4)-beta-D-Glcp-(1<->1')-Cer|GM3 (NeuAc)|GM3|alpha-N-acetylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosylceramide|(N-Acetylneuraminyl)-D-galactosyl-D-glucosylceramide|(Gal)1 (Glc)1 (Neu5Ac)1 (Cer)1|(Neu5Ac)GM3|(2S,3R,4E)-2-(acylamino)-3-hydroxyoctadec-4-en-1-yl 5-acetamido-3,5-dideoxy-D-glycero-alpha-D-galacto-non-2-ulopyranonosyl-(2->3)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranoside|alpha-N-Acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide|monosialoganglioside GM3|Neu5Ac-alpha2->3Gal-beta1->4Glc-beta1->1'Cer|Neu5Acalpha2->3Galbeta1->4Glcbeta-Cer|alpha-N-acetylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosylceramides|N-Acetylneuraminyl-2,3-alpha-D-galactosyl-1,4-beta-D-glucosylceramide|alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer|NeuAcalpha2->3Galbeta1->4Glc-Cer|NeuAc-GM3|NeuAcalpha2-3Galbeta1-4Glcbeta1-1'Cer|ganglioside GM3|Hematoside 0 C42H73N2O21R 942.02980 941.47058 [H][C@]1(O[C@@](C[C@H](O)[C@H]1NC(C)=O)(O[C@H]1[C@@H](O)[C@@H](CO)O[C@@H](O[C@H]2[C@H](O)[C@@H](O)[C@H](OC[C@H](NC([*])=O)[C@H](O)\C=C\CCCCCCCCCCCCC)O[C@@H]2CO)[C@@H]1O)C(O)=O)[C@H](O)[C@H](O)CO PMID:2775195|PMID:1379980|PMID:2448252|PMID:12950986|PMID:16212238|PMID:21149694|PMID:16341241|KEGG:C04730|PMID:15546874|PMID:11164910|PMID:2303428|PMID:15385432|PMID:8496625|PMID:19364317|LIPID_MAPS_instance:LMSP0601AJ00|PMID:16574813|PMID:3864442|PMID:8448384|PMID:7534889|PMID:167132|PMID:1371229|PMID:1724444|PMID:11093705|PMID:3392043|PMID:2449247|PMID:11534772|KEGG:G00108|PMID:7693874|PMID:2714813|PMID:9375803|PMID:15939439|PMID:1567198|PMID:15102521 CHEBI:5227|CHEBI:12580|CHEBI:12288|CHEBI:10959|CHEBI:21147|CHEBI:15680|CHEBI:21623 chebi_ontology owl:Class CHEBI:142767 biolink:NamedThing alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc-yl group A beta-D-glucosyl group derived from the trisaccharide N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucose. Implied reactive epitope within ganglioside GM3. tmpxe7fu0cj_hp_relaxed.owl 3'-sialyllactosyl|Neu5Acalpha2-3Galbeta1-4Glcbeta-yl|5-acetamido-3,5-dideoxy-D-glycero-alpha-D-galacto-non-2-ulopyranonosyl-(2->3)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl|alpha-Neu5Ac-(2->3)-beta-D-Galp-(1->4)-beta-D-Glcp-yl|alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl 0 C23H38NO18 616.545 616.20889 O([C@@H]1[C@H]([C@H](O[C@@H]2[C@H](O[C@@H](*)[C@@H]([C@H]2O)O)CO)O[C@@H]([C@@H]1O)CO)O)[C@]3(O[C@]([C@@H]([C@H](C3)O)NC(C)=O)([C@@H]([C@@H](CO)O)O)[H])C(O)=O PMID:7534889 chebi_ontology owl:Class CHEBI:50857 biolink:NamedThing anti-allergic agent A drug used to treat allergic reactions. tmpxe7fu0cj_hp_relaxed.owl anti-allergic agents|anti-allergic drugs|anti-allergic drug chebi_ontology owl:Class UBERON:0010537 biolink:NamedThing mesonephric nephron progenitor Cluster of cells comprising a portion of tissue which gives rise to new mesonephric nephrons. The cluster contains self-renewing stem cells. tmpxe7fu0cj_hp_relaxed.owl ZFA:0005587 uberon owl:Class UBERON:0010420 biolink:NamedThing lymph node germinal center mantle zone A part of the secondary follicle in which naive B cells reside along with some helper T cells, macrophages and follicular dendritic cells; these are displaced by the expanding germinal centre and form a 'mantle' around it. tmpxe7fu0cj_hp_relaxed.owl lymph node follicular mantle|germinal center mantle zone|lymph node B cell corona|lymph node inactive zone|lymph node follicular corona|mantle zone of lymph node germinal center|lymph node peripheral zone|mantle zone of germinal center|lymph node dark zone EMAPA:37661|MA:0002990 uberon owl:Class GO:0072501 biolink:NamedThing cellular divalent inorganic anion homeostasis Any process involved in the maintenance of an internal steady state of divalent inorganic anions at the level of a cell. tmpxe7fu0cj_hp_relaxed.owl Note that this term was split from 'cellular di-, tri-valent inorganic anion homeostasis ; GO:0030319' (sibling term 'cellular trivalent inorganic anion homeostasis' ; GO:0072502'). mah 2010-12-16T12:53:05Z biological_process owl:Class CHEBI:79388 biolink:NamedThing divalent inorganic anion Any inorganic anion with a valency of two. tmpxe7fu0cj_hp_relaxed.owl divalent inorganic anions chebi_ontology owl:Class Nc2966a51db80426cb94ae26d82993b33 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006574 biolink:NamedThing pectinate line The pectinate line (anocutaneous line, dentate line, anorectal junction) is a line which divides the upper 2/3rds and lower 1/3rd of the anal canal. Developmentally, this line represents the hindgut-proctodeum junction. It is an important anatomical landmark, and several distinctions can be made based upon the location of a structure relative to this line:. tmpxe7fu0cj_hp_relaxed.owl dentate line|Hilton's 'white line'|pectinate line of anal canal|linea pectinata canalis analis|recto-anal junction|linea anocutanea|site of anal membrane EMAPA:19159|NCIT:C34245|UMLS:C0821671|FMA:75383 http://upload.wikimedia.org/wikipedia/commons/7/7b/Hemorrhoid.png uberon owl:Class FMA also has FMA:29321 but it's not clear how this differs UBERON:0008429 biolink:NamedThing cervical vertebral foramen A vertebral foramen that is part of a cervical vertebra. tmpxe7fu0cj_hp_relaxed.owl FMA:13480 uberon owl:Class GO:0021546 biolink:NamedThing rhombomere development The process whose specific outcome is the progression of the rhombomere over time, from its formation to the mature structure. Rhombomeres are transverse segments of the developing rhombencephalon. Rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:28790 biolink:NamedThing serotonin A primary amino compound that is the 5-hydroxy derivative of tryptamine. tmpxe7fu0cj_hp_relaxed.owl Serotonin|5-Hydroxytryptamine|serotonine|SEROTONIN|5-HT|Enteramine|3-(2-Aminoethyl)-1H-indol-5-ol|thrombotonin|3-(2-aminoethyl)-1H-indol-5-ol|thrombocytin 0 C10H12N2O InChI=1S/C10H12N2O/c11-4-3-7-6-12-10-2-1-8(13)5-9(7)10/h1-2,5-6,12-13H,3-4,11H2 QZAYGJVTTNCVMB-UHFFFAOYSA-N 176.215 176.09496 C1=CC(=CC=2C(=CNC12)CCN)O Wikipedia:Serotonin|Beilstein:143524|KNApSAcK:C00001429|HMDB:HMDB0000259|PMID:22770225|PMID:24136337|PDBeChem:SRO|LINCS:LSM-6589|CAS:50-67-9|PMID:18593914|MetaCyc:SEROTONIN|KEGG:C00780|Reaxys:143524|Gmelin:1861995 CHEBI:1420|CHEBI:49894|CHEBI:26652 chebi_ontology owl:Class CHEBI:16765 biolink:NamedThing tryptamine An aminoalkylindole consisting of indole having a 2-aminoethyl group at the 3-position. tmpxe7fu0cj_hp_relaxed.owl Tryptamine|2-(1H-INDOL-3-YL)ETHANAMINE|1H-indole-3-ethanamine|3-(2-Aminoethyl)indole|2-(1H-indol-3-yl)ethanamine|2-(3-indolyl)ethylamine 0 C10H12N2 InChI=1S/C10H12N2/c11-6-5-8-7-12-10-4-2-1-3-9(8)10/h1-4,7,12H,5-6,11H2 APJYDQYYACXCRM-UHFFFAOYSA-N 160.21570 160.10005 NCCc1c[nH]c2ccccc12 Gmelin:603448|HMDB:HMDB0000303|PMID:16126914|Beilstein:125513|PMID:22770225|CAS:61-54-1|PMID:24558969|PMID:24345948|PDBeChem:TSS|Wikipedia:Tryptamine|KEGG:C00398|MetaCyc:TRYPTAMINE|KNApSAcK:C00001434|Reaxys:125513|DrugBank:DB08653 CHEBI:9767|CHEBI:46157|CHEBI:15274|CHEBI:27161 chebi_ontology owl:Class HP:0500151 biolink:NamedThing Hypercystinemia An increased amount of cystine in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased blood cystine concentraions|High blood cystine levels 2018-10-04 14:59:26+00:00 owl:Class N8d1d01788ad24baca29336c9b43d0859 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0018229 biolink:NamedThing renin-angiotensin system A system consisting of renin, angiotensin-converting enzyme, and angiotensin II. Renin, an enzyme produced in the kidney, acts on angiotensinogen, an alpha-2 globulin produced by the liver, forming angiotensin I. The converting enzyme contained in the lung acts on angiotensin I in the plasma converting it to angiotensin II, the most powerful directly pressor substance known. It causes contraction of the arteriolar smooth muscle and has other indirect actions mediated through the adrenal cortex. tmpxe7fu0cj_hp_relaxed.owl renin angiotensin system|renin-angiotensin system|renin-angiotensin-aldosterone system|renin angiotensin aldosterone system FMA:74787|MESH:G06.535.805 may be replaced by a GO process in future uberon owl:Class GO:0007162 biolink:NamedThing negative regulation of cell adhesion Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion. tmpxe7fu0cj_hp_relaxed.owl down regulation of cell adhesion|downregulation of cell adhesion|inhibition of cell adhesion|down-regulation of cell adhesion|cell adhesion receptor inhibitor activity biological_process owl:Class GO:1903702 biolink:NamedThing esophagus development The process whose specific outcome is the progression of an esophagus over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl gullet development|oesophagus development|esophageal development cls 2014-12-03T14:41:30Z biological_process owl:Class UBERON:0001897 biolink:NamedThing dorsal plus ventral thalamus Subcortical brain region consisting of paired gray matter bodies in the dorsal diencephalon and forming part of the lateral wall of the third ventricle of the brain. The thalamus represents the major portion of the diencephalon and is commonly divided into cellular aggregates known as nuclear groups.(MeSH). The dorsal topographic division of the interbrain. The macrodissected adult human thalamus was clearly illustrated by Vesalius in 1543 and the term as defined here was introduced by His in 1893. It includes the traditional epithalamus, dorsal thalamus, and ventral thalamus of Herrick (1910, pp. 494, 498). Also see Kuhlenbeck (1927, Ch. 9) and Jones (1985, p. 87). tmpxe7fu0cj_hp_relaxed.owl thalami|thalamencephalon|thalamus opticus|wider thalamus|Th|thalamus OpenCyc:Mx4rwMPQ65wpEbGdrcN5Y29ycA|BAMS:TH|VHOG:0000657|AAO:0010483|ZFA:0001215|MESH:A08.186.211.730.385.826|MA:0000179|GAID:656|EFO:0000910|galen:Thalamus|TAO:0001215|PBA:128013014|DMBA:16376|MAT:0000109|CALOHA:TS-1031|EV:0100195|BAMS:Th|MBA:549|UMLS:C0039729|BTO:0001365|MIAA:0000109|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=300|NCIT:C12459|DHBA:10390|BIRNLEX:954|EMAPA:17540|HBA:4392 http://upload.wikimedia.org/wikipedia/commons/c/ce/Brain_chrischan_thalamus.jpg uberon owl:Class Part of the diencephalon consisting of a mass of connecting fibers which relay sensory information to the cerebral cortex.[AAO]|One of a pair of large oval nervous structures made of gray matter and forming most of the lateral walls of the third ventricle of the brain and part of the diencephalon. [TFD][VHOG] (...) the brain regions of tetrapods, the structures they contain, and their basic organizational features are the same as in fishes.[well established][VHOG] thalamic CL:0002422 biolink:NamedThing enucleated reticulocyte A reticulocyte lacking a nucleus and showing a basophilic reticulum under vital staining due to the presence of ribosomes. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-0864|FMA:66785 tmeehan 2010-10-15T09:24:08Z cell owl:Class PATO:0001405 biolink:NamedThing anucleate A nucleate quality inhering in a bearer by virtue of the bearer's having no nucleus. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:0051236 biolink:NamedThing establishment of RNA localization The directed movement of RNA to a specific location. tmpxe7fu0cj_hp_relaxed.owl RNA recruitment|establishment of RNA localisation|RNA positioning biological_process owl:Class GO:0006403 biolink:NamedThing RNA localization A process in which RNA is transported to, or maintained in, a specific location. tmpxe7fu0cj_hp_relaxed.owl RNA localisation|establishment and maintenance of RNA localization biological_process owl:Class HP:0500195 biolink:NamedThing Abnormal CSF glutamine family amino acid concentration Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal glutamine family amino acid levels in cerebrospinal fluid 2019-02-25 16:41:53+00:00 owl:Class Ne1b87b32ba3e4622a005403114ce2546 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0035883 biolink:NamedThing enteroendocrine cell differentiation The process in which a relatively unspecialized cell acquires specialized structural and/or functional features of an enteroendocrine cell. Enteroendocrine cells are hormonally active epithelial cells in the gut that constitute the diffuse neuroendocrine system. tmpxe7fu0cj_hp_relaxed.owl bf 2011-06-06T11:48:51Z biological_process owl:Class CL:0000164 biolink:NamedThing enteroendocrine cell An endocrine cell that is located in the epithelium of the gastrointestinal tract or in the pancreas. tmpxe7fu0cj_hp_relaxed.owl BTO:0003865|FMA:62930 cell owl:Class N148d2e503dd248fe840a67f4057287d6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010963 biolink:NamedThing trunk and cervical myotome group tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0003425 isa row in EHDAA2 uberon owl:Class UBERON:5003625 biolink:NamedThing manual digit 5 plus metapodial segment A subdivision of the autopod consisting of manual digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl manual digit V plus metapodial segment|manual digit 5 ray|manual digit 5 ( phalanges plus metapodial) plus soft tissue|manual digit 5 digitopodial subdivision|manual digit 5 this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class GO:0043229 biolink:NamedThing intracellular organelle Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class Nfce82f7227c44420a76f48ae12f1e700 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001272 biolink:NamedThing innominate bone A fused bone consisting of the ilium, ischium and and pubis. Together with the sacrum and coccyx, it comprises the pelvis. [WP,modified]. tmpxe7fu0cj_hp_relaxed.owl coxal bone|pelvic bone|innominate bone|bone of pelvic girdle|basipterygium|os coxa|hip bone|innominate|os coxae|os innominatum FMA:16585|MESH:A02.835.232.611|GAID:205 http://upload.wikimedia.org/wikipedia/commons/8/8b/Gray341.png currently this class is restricted to exclude the teleost bone as the definition mentions ilium, ischium and pubis. In future we may add a grouping class for girdle bones that supports the appendage uberon owl:Class The hip/pelvic bone/basipterygium first appears in fishes, where it consists of a simple, usually triangular bone, to which the pelvic fin articulates. The hip bones on each side usually connect with each other at the forward end, and are even solidly fused in lungfishes and sharks, but they never attach to the vertebral column in FMA this is a paired structure. NCITA has 'pelvic bone' but this is the *superclass* of ilium/ischium/pubis. The MA class 'pelvis bone' is actually a superclass of 'pelvic girdle bone' and caudal/sacral vertebra. UBERON:0000091 biolink:NamedThing bilaminar disc A flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc. tmpxe7fu0cj_hp_relaxed.owl bilaminar disk|bilaminary embryonic disc|germinal disc|germinal disk|embryonic disc|embryonic shield|bilaminary germ disc UMLS:C1283997|FMA:293863|NCIT:C34112 http://upload.wikimedia.org/wikipedia/commons/e/e3/Gray21.png uberon owl:Class HP:0000813 biolink:NamedThing Bicornuate uterus The presence of a bicornuate uterus. tmpxe7fu0cj_hp_relaxed.owl Heart shaped uterus|Heart-shaped uterus|Uterus bicornis UMLS:C0266387|SNOMEDCT_US:31401003 Uterus with two horn-shaped branches. HP:0008735 human_phenotype owl:Class N65623ec9287d425a8c0d382797cae769 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030897 biolink:NamedThing Decreased intestinal transit time A reduction in the length of time required for food to pass through the intestines. tmpxe7fu0cj_hp_relaxed.owl owl:Class Nb960c873776d4a619a9f539a021da672 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003371 biolink:NamedThing pelvic appendage bud ectoderm An unilaminar epithelium that surrounds a pelvic appendage bud. tmpxe7fu0cj_hp_relaxed.owl hindlimb ectoderm|leg ectoderm|lower limb bud ectoderm|pelvic fin bud ectoderm|hindlimb bud ectoderm VHOG:0001048|EMAPA:16780|EHDAA2:0001034 UBERON:0005232 uberon owl:Class GO:0120223 biolink:NamedThing larynx morphogenesis The process in which the larynx is generated and organized. The larynx is a continuation of the pharynx that is involved in breathing, sound production, and protecting the trachea against food aspiration. tmpxe7fu0cj_hp_relaxed.owl laryngeal morphogenesis krc 2020-02-22T01:42:04Z biological_process owl:Class GO:0006163 biolink:NamedThing purine nucleotide metabolic process The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpxe7fu0cj_hp_relaxed.owl purine metabolic process|purine metabolism|purine nucleotide metabolism biological_process owl:Class GO:1904319 biolink:NamedThing negative regulation of smooth muscle contraction involved in micturition Any process that stops, prevents or reduces the frequency, rate or extent of smooth muscle contraction involved in micturition. tmpxe7fu0cj_hp_relaxed.owl downregulation of smooth muscle contraction involved in urination|downregulation of smooth muscle contraction involved in micturition|down regulation of urinary bladder smooth muscle contraction involved in micturition|inhibition of urinary bladder smooth muscle contraction involved in micturition|inhibition of smooth muscle contraction involved in micturition|negative regulation of smooth muscle contraction involved in urination|down-regulation of smooth muscle contraction involved in micturition|down-regulation of urinary bladder smooth muscle contraction involved in micturition|downregulation of urinary bladder smooth muscle contraction involved in micturition|inhibition of smooth muscle contraction involved in urination|negative regulation of urinary bladder smooth muscle contraction involved in micturition|down-regulation of smooth muscle contraction involved in urination|down regulation of smooth muscle contraction involved in micturition|down regulation of smooth muscle contraction involved in urination sl 2015-06-10T18:46:17Z biological_process owl:Class HP:0001537 biolink:NamedThing Umbilical hernia Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. tmpxe7fu0cj_hp_relaxed.owl Umbilical hernias SNOMEDCT_US:396347007|UMLS:C0019322|Fyler:4445 human_phenotype owl:Class N23a19154cbd04bef910487291a919cf4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:70959 biolink:NamedThing 3-methylhistidine A methylhistidine in which the methyl group is located at N-3. tmpxe7fu0cj_hp_relaxed.owl 3-methylhistidine|2-amino-3-(1-methyl-1H-imidazol-5-yl)propanoic acid|3-methyl-DL-histidine 0 C7H11N3O2 InChI=1S/C7H11N3O2/c1-10-4-9-3-5(10)2-6(8)7(11)12/h3-4,6H,2,8H2,1H3,(H,11,12) JDHILDINMRGULE-UHFFFAOYSA-N 169.18110 169.08513 Cn1cncc1CC(N)C(O)=O PMID:24009031|PMID:24681531|PMID:22770225|Reaxys:83652 chebi_ontology owl:Class UBERON:0001334 biolink:NamedThing female urethra A urethra that is part of a female reproductive system. tmpxe7fu0cj_hp_relaxed.owl urethra feminina|urethra muliebris MA:0002637|NCIT:C32591|FMA:19669|BTO:0004088|UMLS:C0458485|EMAPA:28747 Female:anatomy.png uberon owl:Class UBERON:0000935 biolink:NamedThing anterior commissure A bundle of myelinated nerve fibers passing transversely through the lamina terminalis and connecting symmetrical parts of the two cerebral hemispheres; it consists of a smaller anterior part (pars anterior commissurae anterioris) and a larger posterior part (pars posterior commissurae anterioris). tmpxe7fu0cj_hp_relaxed.owl paleocortical commissure|precommisure|AC|rostral commissure|commissura anterior|commissura rostralis|commissura anterior cerebri|commissura rostral|anterior cerebral commissure|anterior commissural nucleus EMAPA:19038|BIRNLEX:1557|BAMS:Ac|BAMS:AC|TAO:0001108|VHOG:0001558|HBA:9221|MA:0002722|BAMS:AG|UMLS:C0152335|BTO:0002169|NCIT:C32086|DMBA:17751|BM:Tel-AC|ZFA:0001108|FMA:61961|DHBA:10559|BAMS:ac|NLX:144088 http://upload.wikimedia.org/wikipedia/commons/b/b4/Gray744.png uberon owl:Class In all vertebrates the thin structure that connects the two halves of the telencephalon shows a ridge-like thickening at the basal side known as the anterior commissure.[well established][VHOG] UBERON:0001716 biolink:NamedThing secondary palate The part of the palate formed from the fusion of the two palatine shelves, extensions of the maxillary prominences. tmpxe7fu0cj_hp_relaxed.owl palatum|palatum definitivum|oral roof|roof of mouth|palatum secundarium|definitive palate|palate NCIT:C12229|EMAPA:18948|FMA:54549|UMLS:C1519217|BTO:0001779|NCIT:C34292|MESH:D010159|MA:0002476|GAID:152|UMLS:C0700374|galen:Palate http://upload.wikimedia.org/wikipedia/commons/d/d4/Illu01_head_neck.jpg|http://upload.wikimedia.org/wikipedia/commons/3/31/Pig_snout_sagittal_cut.jpg uberon owl:Class palatal present in mammals and some reptiles. A similar structure is found in crocodilians, but, in most other tetrapods, the oral and nasal cavities are not truly separate. The secondary palate is formed by bilateral medial extensions of maxillary processes. The extensions (palatine processes) meet at the midline, merging dorsally with nasal septum and rostrally with primary palate. The secondary palate (hard palate) separates nasal and oral cavities. Caudal extension of the secondary palate into the pharynx, forms a soft palate which divides the rostral pharynx into dorsal (nasopharynx) and ventral (oropharynx) chamber. separates respiratory and oral passages UBERON:0000167 biolink:NamedThing oral cavity Anatomical cavity at the start of the digestive tract that that is enclosed by the mouth. The boundaries and contents vary depending on the species. In vertebrates, the boundaries are the oral opening, the cheeks, the palate and (if present) the palatoglossal arch - if this is not present then the mouth and pharynx form the oropharyngeal cavity. The buccal cavity contains the teeth, tongue and palate (when present). tmpxe7fu0cj_hp_relaxed.owl buccal cavity|cavity of mouth|bucca VHOG:0000188|EMAPA:17411|CALOHA:TS-1315|HAO:0000669|WBbt:0005255|EMAPA:18399|EV:0100057|ZFA:0001027|TAO:0001027|XAO:0000126|AAO:0000053|SCTID:181220002|UMLS:C0226896|BSA:0000107|FMA:20292|AAO:0000960|TGMA:0000102|EHDAA2:0001324|EFO:0001975|NCIT:C12421|EHDAA:6970 uberon owl:Class Anatomical cavity bounded anteriorly by the mouth and posteriorly by the derivatives of the branchial arches.[AAO]|The cavity of the mouth, bounded by the jaw bones and associated structures (muscles and mucosa). [TFD][VHOG] Echinoderms, hemichordates, and chordates are called deuterostomes because the mouth arises not from the blastopore but from a second invagination at the anterior end of the larva that pushes in to connect with the archenteron.[well established][VHOG] UBERON:0001558 biolink:NamedThing lower respiratory tract The segment of the respiratory tract that starts proximally with the trachea and includes all distal structures including the lungs[WP,modified]. tmpxe7fu0cj_hp_relaxed.owl lower respiratory system MA:0000435|FMA:45662|VHOG:0000382|Wikipedia:Lower_respiratory_tract|SCTID:281488008|EMAPA:16738|OpenCyc:Mx4rQRqjUgAKEdyHxgDggVfs8g|EHDAA2:0001036 http://upload.wikimedia.org/wikipedia/commons/c/c3/Illu_conducting_passages.jpg|http://upload.wikimedia.org/wikipedia/commons/9/9f/Illu_conducting_passages.svg uberon owl:Class N2ba9b6f7c21144a3b34f8b7d3543de52 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd887404fdff745f193107a0058c1158a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008861 biolink:NamedThing pyloric gastric gland The gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin[MP]. tmpxe7fu0cj_hp_relaxed.owl pyloric antrum gland|pyloric mucuous gland|glandula pylorica|pyloric gland EMAPA:27211|NCIT:C33431|FMA:14922|UMLS:C0227239 http://upload.wikimedia.org/wikipedia/commons/b/bf/Gray1054.png check relationship to pylorus vs antrum uberon owl:Class GO:0031965 biolink:NamedThing nuclear membrane Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. tmpxe7fu0cj_hp_relaxed.owl NIF_Subcellular:sao1687101204 cellular_component owl:Class GO:0005635 biolink:NamedThing nuclear envelope The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Nuclear_envelope GO:0005636 cellular_component owl:Class CL:0001066 biolink:NamedThing erythroid progenitor cell, mammalian A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative). tmpxe7fu0cj_hp_relaxed.owl BFU-E|burst forming unit erythroid|blast forming unit erythroid|CFU-E|colony forming unit erythroid|erythroid stem cell BTO:0004911 cell owl:Class UBERON:0004917 biolink:NamedThing urethral sphincter A sphincter muscle surrounding the urethra. tmpxe7fu0cj_hp_relaxed.owl sphincter muscle of urethra|sphincter urethrae|sphincter of urethra|urethral sphincter muscle MA:0002650|EMAPA:37789 uberon owl:Class UBERON:0001556 biolink:NamedThing lower urinary tract Subdivision of urinary system which consists of the urinary bladder and the urethra. tmpxe7fu0cj_hp_relaxed.owl galen:LowerUrinaryTract|FMA:45659|MA:0002636 uberon owl:Class UBERON:0007026 biolink:NamedThing presumptive gut tmpxe7fu0cj_hp_relaxed.owl future digestive tube|primordial gut|primitive gut|primordial digestive tube|future gut|embryonic digestive tube|future digestive tract UMLS:C1514442|SCTID:360394002|BILA:0000084|NCIT:C34268 uberon owl:Class The endodermal cells generate only the lining of the digestive tube and its glands; mesodermal mesenchyme cells will surround this tube to provide the muscles for peristalsis UBERON:0008199 biolink:NamedThing chin A subdivision of the face that is the anteriormost part of the lower jaw region. tmpxe7fu0cj_hp_relaxed.owl mental region of face|mental region|mental part of face|regio mentalis|mentum FMA:46495|NCIT:C81169|EMAPA:37827|TAO:0002254|MESH:D002680|GAID:67|galen:Chin http://upload.wikimedia.org/wikipedia/commons/6/60/Gray1195.png uberon owl:Class Surface structure that is the anteriormost region of the lower jaw.[TAO] mental In humans, the chin is the lowermost part of the face. It is formed by the lower front of the mandible. The chin developed as a point of muscular attachment facilitating minute movements of the lips associated with speech. In human evolution, the chin is a cladistic apomorphy, partially defining anatomically modern Humans as distinct from archaic forms N42962cc338b04e198de9a4be034e833d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014795 biolink:NamedThing pelvic appendage muscle Any muscle organ that is part of a pelvic appendage (hindlimb or pelvic fin). tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0007270 biolink:NamedThing pelvic appendage musculature Any collection of muscles that is part of a pelvic appendage. tmpxe7fu0cj_hp_relaxed.owl pelvic fin musculature ZFA:0000258|TAO:0000258 currently defined by location rather than attachment uberon owl:Class Musculature that is part of the pelvic fin.[TAO] CHEBI:59888 biolink:NamedThing gamma-aminobutyric acid zwitterion Zwitterionic form of gamma-aminobutyric acid having an anionic carboxy group and a protonated amino group. tmpxe7fu0cj_hp_relaxed.owl 4-azaniumylbutanoate|4-aminobutanoate|4-ammoniobutanoate 0 C4H9NO2 InChI=1S/C4H9NO2/c5-3-1-2-4(6)7/h1-3,5H2,(H,6,7) BTCSSZJGUNDROE-UHFFFAOYSA-N 103.11980 103.06333 [NH3+]CCCC([O-])=O Gmelin:1041559 chebi_ontology owl:Class Ne6e158638d6f4f5aa7a270baea011b43 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001552 biolink:NamedThing decreased sensitivity of a process A sensitivity of a process which is lower than normal or average. tmpxe7fu0cj_hp_relaxed.owl decreased sensitivity of occurrent|low sensitivity of occurrent quality owl:Class HP:0100863 biolink:NamedThing Aplasia of the femoral neck tmpxe7fu0cj_hp_relaxed.owl Absent neck of thighbone UMLS:C4021949 doelkens 2011-11-30T10:48:08Z human_phenotype owl:Class N852decfd9fc84cc598e56015f18e1298 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0072674 biolink:NamedThing multinuclear osteoclast differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a multinuclear osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. tmpxe7fu0cj_hp_relaxed.owl multinuclear osteoclast morphogenesis|multinuclear osteoclast formation mah 2011-02-22T02:10:38Z biological_process owl:Class GO:0050973 biolink:NamedThing detection of mechanical stimulus involved in equilibrioception tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0000175 biolink:NamedThing Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). tmpxe7fu0cj_hp_relaxed.owl Cleft palate|Uranostaphyloschisis|Cleft of hard and soft palate|Cleft of palate|Palatoschisis|Cleft hard and soft palate|Cleft roof of mouth|Cleft secondary palate UMLS:C0008925|UMLS:C2981150|Fyler:4876|SNOMEDCT_US:87979003|MSH:D002972|SNOMEDCT_US:63567004 Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. HP:0410004 human_phenotype owl:Class N3834d1fbf2d240239ed679b43d0fdc26 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003108 biolink:NamedThing Hyperglycinuria An increased concentration of glycine in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine glycine levels|Glycinuria UMLS:C0341706|SNOMEDCT_US:236477004|UMLS:C0543541|MSH:C563009 Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours. HP:0002931 human_phenotype owl:Class N55f9b26c55af4d458fe4d029674cb602 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007172 biolink:NamedThing angle of scapula tmpxe7fu0cj_hp_relaxed.owl scapular angle EMAPA:25125|FMA:23800 uberon https://github.com/obophenotype/uberon/issues/58 owl:Class CHEBI:58954 biolink:NamedThing straight-chain saturated fatty acid anion Any saturated fatty acid anion lacking a carbon side-chain. tmpxe7fu0cj_hp_relaxed.owl straight-chain saturated fatty acid anions chebi_ontology owl:Class UBERON:0007220 biolink:NamedThing late embryonic stage An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. tmpxe7fu0cj_hp_relaxed.owl embryo late stage|fetal stage|fetus stage|embryo late (growth) stage|fetus|embryo late growth stage MIAA:0000399|EVM:2990031|MmusDv:0000031|OGES:000023|FMA:63631|EV:0300011|FBdv:00005333 uberon https://github.com/obophenotype/uberon/issues/355|https://github.com/obophenotype/uberon/issues/565 owl:Class CHEBI:35588 biolink:NamedThing 3H-purine The 3H-tautomer of purine. tmpxe7fu0cj_hp_relaxed.owl 3H-purine 0 C5H4N4 InChI=1S/C5H4N4/c1-4-5(8-2-6-1)9-3-7-4/h1-3H,(H,6,7,8,9) KDCGOANMDULRCW-UHFFFAOYSA-N 120.11222 120.04360 c1nc2cnc[nH]c2n1 PMID:7296170|Reaxys:1210196|PMID:7178185|PMID:6149478 chebi_ontology owl:Class HP:0012132 biolink:NamedThing Erythroid hyperplasia Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl Bone marrow smear shows erythroid hyperplasia|Bone marrow biopsy shows erythroid hyperplasia UMLS:C0014800|UMLS:C3552917|UMLS:C1838111 peter 2012-09-16T07:19:21Z human_phenotype owl:Class N6d66e25478df441e98202dd564cfef7f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006544 biolink:NamedThing kidney vasculature A vasculature that is part of a kidney. tmpxe7fu0cj_hp_relaxed.owl ZFA:0005305|TAO:0005305|EMAPA:28457 uberon owl:Class UBERON:0018413 biolink:NamedThing facial nerve canal A Z-shaped canal running through the temporal bone from the internal acoustic meatus to the stylomastoid foramen. It is located within the middle ear region, according to its shape it is divided into three main segments: the labyrinthine, the tympanic, and the mastoidal segment . tmpxe7fu0cj_hp_relaxed.owl facial canal|canalis nervi facialis|fallopian canal FMA:54952 uberon owl:Class GO:0001873 biolink:NamedThing polysaccharide immune receptor activity Combining with a polysaccharide and transmitting the signal to initiate an innate immune response. A polysaccharide is a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. tmpxe7fu0cj_hp_relaxed.owl polysaccharide receptor activity molecular_function owl:Class HP:0000756 biolink:NamedThing Agoraphobia A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather. tmpxe7fu0cj_hp_relaxed.owl Fear of open spaces UMLS:C0001818|SNOMEDCT_US:70691001|SNOMEDCT_US:247830007|MSH:D000379 human_phenotype owl:Class Nb17d5e182771460c90f06353d7172714 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009631 biolink:NamedThing Bullet-shaped proximal phalanx of the thumb Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped innermost thumb bone UMLS:C4024266 doelkens 2009-01-29T05:09:41Z human_phenotype owl:Class N433b1ec34f0c4258a8ecb5c58eae7174 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5a206ce49bb64bbea5864d81a6595f2f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:132938 biolink:NamedThing ethylmalonate A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of ethylmalonic acid. tmpxe7fu0cj_hp_relaxed.owl ethylmalonic acid anion|ethylmalonate anion chebi_ontology owl:Class CHEBI:741548 biolink:NamedThing ethylmalonic acid A dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group. tmpxe7fu0cj_hp_relaxed.owl 1,1-propanedicarboxylic acid|2-ethylmalonic acid|ethylpropanedioic acid|alpha-carboxybutyric acid 0 C5H8O4 InChI=1S/C5H8O4/c1-2-3(4(6)7)5(8)9/h3H,2H2,1H3,(H,6,7)(H,8,9) UKFXDFUAPNAMPJ-UHFFFAOYSA-N 132.11460 132.04226 CCC(C(O)=O)C(O)=O HMDB:HMDB0000622|PMID:23161776|CAS:516-05-2|PMID:6860317|PMID:22133302|CAS:601-75-2|PMID:20187168|Reaxys:774334 chebi_ontology owl:Class UBERON:0012360 biolink:NamedThing bone of jaw A bone element that is part of a jaw region. tmpxe7fu0cj_hp_relaxed.owl jaw bone MA:0003130|SCTID:369003004|EMAPA:35453 Do not manually classify under here - bones are automatically classified uberon owl:Class UBERON:0011595 biolink:NamedThing jaw region A subdivision of the head that corresponds to the jaw skeleton, containing both soft tissue, skeleton and teeth (when present). The jaw region is divided into upper and lower regions. tmpxe7fu0cj_hp_relaxed.owl EMAPA:32905|NCIT:C114916 uberon http://eol.org/collections/11578 owl:Class UBERON:0005689 biolink:NamedThing 2nd arch mesenchyme Mesenchyme that is part of a pharyngeal arch 2. tmpxe7fu0cj_hp_relaxed.owl 2nd pharyngeal arch mesenchyme|pharyngeal arch 2 mesenchyme|2nd branchial arch mesenchyme EHDAA2:0000066|EHDAA:625|FMA:295698|VHOG:0001102|EMAPA:16279 uberon owl:Class In all vertebrates, the pharyngeal apparatus develops from a series of bulges found on the lateral surface of the head, the pharyngeal arches, which consist of a number of different embryonic cell types. Each arch has an external covering of ectoderm and inner covering of endoderm, and between these a mesenchymal filling of neural crest with a central core of mesoderm.[well established][VHOG] N4aaccd51e671465487988628fc7e3580 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0002469 biolink:NamedThing myeloid dendritic cell antigen processing and presentation The process in which a myeloid dendritic cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0022010 biolink:NamedThing central nervous system myelination The process in which neuronal axons and dendrites become coated with a segmented lipid-rich sheath (myelin) to enable faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of oligodendrocytes in the central nervous system. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. tmpxe7fu0cj_hp_relaxed.owl myelination in central nervous system biological_process owl:Class GO:2000287 biolink:NamedThing positive regulation of myotome development Any process that activates or increases the frequency, rate or extent of myotome development. tmpxe7fu0cj_hp_relaxed.owl rl 2010-12-16T05:17:15Z biological_process owl:Class GO:0061055 biolink:NamedThing myotome development The progression of the myotome over time, from its formation to the mature structure. The myotome is the portion of the somite that will give rise to muscle. tmpxe7fu0cj_hp_relaxed.owl dph 2010-03-02T12:11:01Z biological_process owl:Class CHEBI:79210 biolink:NamedThing alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide(1-) An anionic ganglioside that is the conjugate base of alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide arising from deprotonation of the neuraminosyl carboxy group; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl ganglioside GM3|ganglioside GM3(1-) -1 C27H43N2O21R2 731.632 731.23583 CC(=O)N[C@@H]1[C@@H](O)C[C@@](O[C@H]2[C@@H](O)[C@@H](CO)O[C@@H](O[C@H]3[C@H](O)[C@@H](O)[C@H](OC[C@H](NC([*])=O)[C@H](O)[*])O[C@@H]3CO)[C@@H]2O)(O[C@H]1[C@H](O)[C@H](O)CO)C([O-])=O PMID:1601877|PMID:8643456 chebi_ontology owl:Class CHEBI:79209 biolink:NamedThing alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide A sialodiaosylceramide consisting of the trisaccharide alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucose attached to the primary hydroxy function of a ceramide with undefined sphingoid base. tmpxe7fu0cj_hp_relaxed.owl ganglioside GM3 0 C27H44N2O21R2 732.640 732.24366 CC(=O)N[C@@H]1[C@@H](O)C[C@@](O[C@H]2[C@@H](O)[C@@H](CO)O[C@@H](O[C@H]3[C@H](O)[C@@H](O)[C@H](OC[C@H](NC([*])=O)[C@H](O)[*])O[C@@H]3CO)[C@@H]2O)(O[C@H]1[C@H](O)[C@H](O)CO)C(O)=O PMID:1601877|PMID:8643456 chebi_ontology owl:Class UBERON:0003707 biolink:NamedThing sinus of Valsalva One of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve. tmpxe7fu0cj_hp_relaxed.owl Petit's sinus|sinus of Otto|sinus aorta|aortic sinus|sinus of Morgagni|Petit sinus|sinus aortae|Valsalva sinus UMLS:C0503361|FMA:3745|EMAPA:18625|MA:0003051|MESH:D012850|NCIT:C33557|GAID:472 http://upload.wikimedia.org/wikipedia/commons/5/54/Gray497.png uberon owl:Class UBERON:0001173 biolink:NamedThing biliary tree A complex network of conduits that begins with the canals of Hering (intralobar bile duct) and progressively merges into a system of interlobular, septal, and major ducts which then coalesce to form the extrahepatic bile ducts, which finally deliver bile to the intestine, and in some species to the gallbladder. tmpxe7fu0cj_hp_relaxed.owl biliary tract FMA:14665|XAO:0000455|AAO:0011020|EMAPA:35172|UMLS:C0005423 The path in many species is as follows: Bile canaliculi -> Canals of Hering (intralobar bile duct) -> interlobular bile ducts -> intrahepatic bile ducts -> left and right hepatic ducts merge to form -> common hepatic duct *exits liver* and joins -> cystic duct (from gall bladder) forming -> common bile duct -> joins with pancreatic duct -> forming ampulla of Vater -> enters duodenum [WP] uberon owl:Class Hollow tree organ, the organ parts of which consist of the bile ducts.[AAO] UBERON:0001282 biolink:NamedThing intralobular bile duct The tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule. tmpxe7fu0cj_hp_relaxed.owl canals of Hering|cholangiole|ductus interlobularis bilifer|duct of Herring|canal of Hering|canal of Herring|intrahepatic bile ductule NCIT:C32255|MA:0002669|FMA:17545|UMLS:C0227517 Note that this is part of the intrahepatic bile duct in MA, as this class is more alike the tree in FMA. Note also that SCT has canal of Hering and Entire IBduct as the only sibling terms under 'Structure of intralobular bile duct' (i.e. the CoH is the only part of the entire IBduct) uberon owl:Class GO:0070944 biolink:NamedThing neutrophil-mediated killing of bacterium The directed killing of a bacterium by a neutrophil. tmpxe7fu0cj_hp_relaxed.owl neutrophil mediated killing of bacterium mah 2009-10-01T01:55:56Z biological_process owl:Class HP:0001667 biolink:NamedThing Right ventricular hypertrophy In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. tmpxe7fu0cj_hp_relaxed.owl Heart right ventricle hypertrophy MSH:D017380|SNOMEDCT_US:89792004|Fyler:3609|UMLS:C0162770 human_phenotype owl:Class Nc09500f459194ef0829e121ae09cd3ae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005711 biolink:NamedThing foregut duodenum mesentery A mesentery of duodenum that is part of a foregut. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000564 uberon owl:Class GO:0072592 biolink:NamedThing oxygen metabolic process The chemical reactions and pathways involving diatomic oxygen (O2). tmpxe7fu0cj_hp_relaxed.owl diatomic oxygen metabolic process|oxygen metabolism mah 2011-02-11T10:46:51Z biological_process owl:Class HP:3000060 biolink:NamedThing Abnormality of infraorbital artery An abnormality of an infraorbital artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073268 vasilevs 2015-08-07T03:18:53Z human_phenotype owl:Class N16732f2ecc9b422dacbc43fdf7db1d1a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010701 biolink:NamedThing Abnormal immunoglobulin level An abnormal deviation from normal levels of immunoglobulins in blood. tmpxe7fu0cj_hp_relaxed.owl Immunoglobulin abnormality|Abnormal serum immunoglobulin levels|Abnormal serum level of immunoglobulin|Abnormal immunoglobulin concentration|Abnormal serum immunoglobulin concentration UMLS:C1855755 'has part' some (amount and ('inheres in' some (IMR_0002090 and ('part of' some blood))) and ('has modifier' some abnormal)) peter 2010-03-22T08:17:49Z HP:0100032 human_phenotype owl:Class N430244c6b3b444b497676dbb2d2f8fba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1f343a9fc6e54d9a88326a0dbef45676 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0016310 biolink:NamedThing phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Phosphorylation biological_process owl:Class HP:0010756 biolink:NamedThing Aplasia/Hypoplasia of the premaxilla Absence or underdevelopment of the premaxilla. tmpxe7fu0cj_hp_relaxed.owl Aplasia/hypoplasia of the primary palate bone|Aplasia/hypoplasia of the intermaxillary bone UMLS:C4023713 sdoelken 2010-04-23T10:40:40Z human_phenotype owl:Class Nd008e117a2384d0b9eac52067c0e057e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001872 biolink:NamedThing parietal lobe Upper central part of the cerebral hemisphere. (MSH). tmpxe7fu0cj_hp_relaxed.owl lobus parietalis|parietal region|regio parietalis EFO:0000914|MESH:A08.186.211.730.885.213.670|FMA:61826|BAMS:Parietal_lobe|GAID:680|CALOHA:TS-0747|BIRNLEX:1148|MAT:0000506|HBA:4084|DHBA:12131|UMLS:C0030560|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=95|NCIT:C12354|EV:0100168|BTO:0001001|OpenCyc:Mx4rvg-typwpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/b/b2/Gray726_parietal_lobe.png uberon owl:Class HP:0009512 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 2nd finger A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the outermost bone of the index finger UMLS:C4024319 doelkens 2009-01-16T01:11:04Z human_phenotype owl:Class N383802df489042a392f1a19c8534cbac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0006022 biolink:NamedThing aminoglycan metabolic process The chemical reactions and pathways involving aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages. tmpxe7fu0cj_hp_relaxed.owl aminoglycan metabolism biological_process owl:Class GO:0097712 biolink:NamedThing vesicle targeting, trans-Golgi to periciliary membrane compartment The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. tmpxe7fu0cj_hp_relaxed.owl pr 2016-08-05T16:16:28Z biological_process owl:Class HP:0041195 biolink:NamedThing Fractured epiphysis of third metatarsal bone A partial or complete breakage of the epiphysis of third metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl bone epiphysis of third metatarsal bone owl:Class Nfa56dec6894b4d7587e992234104d6d9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N990ab7baead14cbd87ed210a637b949e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:26333 biolink:NamedThing prostaglandin Naturally occurring compounds derived from the parent C20 acid, prostanoic acid. tmpxe7fu0cj_hp_relaxed.owl prostaglandins|prostaglandin LIPID_MAPS_class:LMFA0301|CAS:11000-26-3 chebi_ontology owl:Class CHEBI:8504 biolink:NamedThing prostanoic acid A carbocyclic fatty acid composed of heptanoic acid having a (1S,2S)-2-octylcyclopentyl substituent at position 7. tmpxe7fu0cj_hp_relaxed.owl 7-[(1S,2S)-2-octylcyclopentyl]heptanoic acid|Prostanoic acid|prostan-1-oic acid 0 C20H38O2 InChI=1S/C20H38O2/c1-2-3-4-5-6-9-13-18-15-12-16-19(18)14-10-7-8-11-17-20(21)22/h18-19H,2-17H2,1H3,(H,21,22)/t18-,19-/m0/s1 WGJJROVFWIXTPA-OALUTQOASA-N 310.51452 310.28718 CCCCCCCC[C@H]1CCC[C@@H]1CCCCCCC(O)=O LIPID_MAPS_instance:LMFA03010000|PMID:6234649|KEGG:C02064|Reaxys:5744307|Beilstein:5744307 chebi_ontology owl:Class CHEBI:35509 biolink:NamedThing androstane tmpxe7fu0cj_hp_relaxed.owl androstane 0 C19H32 InChI=1S/C19H32/c1-18-11-5-7-16(18)15-9-8-14-6-3-4-12-19(14,2)17(15)10-13-18/h14-17H,3-13H2,1-2H3/t14?,15-,16-,17-,18-,19-/m0/s1 QZLYKIGBANMMBK-FZFXZXLVSA-N 260.45738 260.25040 [H][C@@]12CCC3CCCC[C@]3(C)[C@@]1([H])CC[C@]1(C)CCC[C@@]21[H] CAS:24887-75-0|Beilstein:5247532|LIPID_MAPS_instance:LMST02020000 chebi_ontology owl:Class GO:0060285 biolink:NamedThing cilium-dependent cell motility Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. tmpxe7fu0cj_hp_relaxed.owl microtubule-based flagellar cell motility|ciliary cell motility|cilium cell motility Note that we deem eukaryotic cilia and microtubule-based flagella to be equivalent. GO:0071974 biological_process owl:Class N4bdd578f3cf14d7abfe3174c79ac301a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:16990 biolink:NamedThing bilirubin IXalpha A member of the class of biladienes that is a linear tetrapyrrole with the dipyrrole units being of both exovinyl and endovinyl type. A product of heme degradation, it is produced in the reticuloendothelial system by the reduction of biliverdin and transported to the liver as a complex with serum albumin. tmpxe7fu0cj_hp_relaxed.owl bilirubin(Z,Z)|3,18-diethenyl-2,7,13,17-tetramethyl-1,19-dioxo-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid|2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid|2,17-diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-biline-8,12-dipropanoic acid|bilirubin|1,10,19,22,23,24-hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinylbiline-8,12-dipropionic acid|bilirubin-IXalpha|8,12-bis(2-carboxyethyl)-2,7,13,17-tetramethyl-3,18-divinylbiladiene-ac-1,19(21H,24H)-dione|Bilirubin 0 C33H36N4O6 InChI=1S/C33H36N4O6/c1-7-20-19(6)32(42)37-27(20)14-25-18(5)23(10-12-31(40)41)29(35-25)15-28-22(9-11-30(38)39)17(4)24(34-28)13-26-16(3)21(8-2)33(43)36-26/h7-8,13-14,34-35H,1-2,9-12,15H2,3-6H3,(H,36,43)(H,37,42)(H,38,39)(H,40,41)/b26-13-,27-14- BPYKTIZUTYGOLE-IFADSCNNSA-N 584.66230 584.26348 CC1=C(C=C)\C(NC1=O)=C\c1[nH]c(Cc2[nH]c(\C=C3NC(=O)C(C=C)=C/3C)c(C)c2CCC(O)=O)c(CCC(O)=O)c1C Wikipedia:Bilirubin|CAS:635-65-4|PMID:23763371|Reaxys:74376|HMDB:HMDB0000054|PMID:12799017|KEGG:C00486|PMID:8605219|Gmelin:411033|KNApSAcK:C00029828|MetaCyc:BILIRUBIN|PMID:18442622|Beilstein:74376|PMID:9587403 CHEBI:3099|CHEBI:13898|CHEBI:22870 chebi_ontology owl:Class HP:0100168 biolink:NamedThing Fragmented epiphyses Fragmented appearance of the epiphyses. tmpxe7fu0cj_hp_relaxed.owl Fragmented end part of bone UMLS:C4022253 doelkens 2010-06-24T11:07:51Z human_phenotype owl:Class N54ee111fcd41459aa3261f8c1420c374 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:8410051 biolink:NamedThing lymphatic vessel of colon A lymphatic vessel located in the colon. tmpxe7fu0cj_hp_relaxed.owl http://orcid.org/0000-0002-2825-0621 uberon owl:Class HP:0025041 biolink:NamedThing Thalamic calcification Calcium deposition in the thalamus. tmpxe7fu0cj_hp_relaxed.owl 2016-09-25 14:15:01+00:00 HPO:probinson owl:Class N2457ce6ea611482ea2ce0f63cf9f9747 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006438 biolink:NamedThing Enlargement of the distal femoral epiphysis An abnormal enlargement of the distal epiphysis of the femur. tmpxe7fu0cj_hp_relaxed.owl Enlargement of the outermost thighbone end part|Large distal femoral epiphyses UMLS:C1843105 human_phenotype owl:Class N3bb690d7434b4114b4362562b8c575c7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003074 biolink:NamedThing mesonephric duct Paired organ that connects the primitive kidney Wolffian body (or mesonephros) to the cloaca and serves as the anlage for certain male reproductive organs. the Wolffian duct is what remains of the pronephric duct after the atrophy of the pronephros[WP]. In Zebrafish: Duct of the adult kidney (mesonephros), present bilaterally ventral to the somites and leading to the cloacal chamber[ZFA]. tmpxe7fu0cj_hp_relaxed.owl Wolffian duct|ductus mesonephricus; ductus Wolffi|renal duct|Leydig's duct|archinephric duct NCIT:C26469|EMAPA:16577|TAO:0000546|EHDAA:1590|UMLS:C0043204|VHOG:0000082|AAO:0000637|XAO:0000242|ZFA:0000546|GAID:1315|MESH:A16.254.940|EHDAA2:0001243 http://upload.wikimedia.org/wikipedia/commons/6/6d/Gray1109.png Consider adding subclasses for male and female specific variants|TODO - mesonephric portion of the nephric duct uberon owl:Class The first-formed kidney duct, which drains the kidney of most anamniotes and becomes the ductus deferens of male amniotes. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-3, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]|Anatomical structure consisting of either of a pair of longitudinal ducts which carry urine and in males, sperm, to the cloaca.[AAO] (...) in all craniates, the archinephric duct develops in embryogeny.[well established][VHOG] In the male the Wolffian duct persists, and forms for example the epididymis, the ductus deferens, the ejaculatory duct, seminal vesicle and efferent ducts. Nc6fbead14a7a416a8953fcfad22dc131 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000728 biolink:NamedThing Impaired ability to form peer relationships tmpxe7fu0cj_hp_relaxed.owl UMLS:C1837649 human_phenotype owl:Class N11cad2377614413ea58a144619fb6056 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001899 biolink:NamedThing epithalamus Most dorsal part of the thalamus, comprising the pineal gland and habenular nuclei in most vertebrates. In a few vertebrates, it also includes the parietal eye. (Butler and Hodos, Comparative Vertebrate Neuroanatomy, 2nd ed, 2005, pg. 345-346. tmpxe7fu0cj_hp_relaxed.owl ETh|epithalamus TAO:0000509|UMLS:C0152361|DHBA:10451|HBA:4520|BAMS:Epi|BIRNLEX:1710|EFO:0000918|EHDAA2:0000448|GAID:455|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=292|FMA:62009|BTO:0000175|MAT:0000422|NCIT:C12457|CALOHA:TS-2060|EMAPA:17532|PBA:128013147|ZFA:0000509|BAMS:ETh|BAMS:EpT|MIAA:0000422|MBA:958|AAO:0010482|BM:Die-Epi|VHOG:0000178|EHDAA:5433|BAMS:EPI|EV:0100220|MA:0000172|MESH:A08.186.211.577.200|OpenCyc:Mx4rvneLQpwpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/c/cb/Epithalamus.png uberon owl:Class Dorsal segment of the diencephalon containing the habenular ganglia, a choroid plexus, and the pineal organ.[AAO]|The roof of the diencephalon lying above the thalamus. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-11, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] The epithalamus has been historically conceived as a distinct neuroanatomical moiety within the diencephalon of all vertebrates. (...) The evolutionary origins of epithalamic structures are uncertain but asymmetry in this region is likely to have existed at the origin of the vertebrate, perhaps even the chordate, lineage.[well established][VHOG] epithalamic UBERON:0012250 biolink:NamedThing cervix glandular epithelium A glandular epithelium that is part of a uterine cervix. tmpxe7fu0cj_hp_relaxed.owl cervix columnar epithelium NCIT:C54414|UMLS:C1707350 uberon owl:Class The 'glandular' or columnar epithelium of the cervix is located cephalad to the squamocolumnar junction. It covers a variable amount of the ectocervix and lines the endocervical canal. It is comprised of a single layer of mucin-secreting cells. The epithelium is thrown into longitudinal folds and invaginations that make up the so-called endocervical glands (they are not true glands). These infolding crypts and channels make the cytologic and colposcopic detection of neoplasia less reliable and more problematic. The complex architecture of the endocervical glands gives the columnar epithelium a papillary appearance through the colposcope and a grainy appearance upon gross visual inspection. The single cell layer allows the coloration of the underlying vasculature to be seen more easily. Therefore, the columnar epithelium appears more red in comparison with the more opaque squamous epithelium. CL:0001059 biolink:NamedThing common myeloid progenitor, CD34-positive A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1. tmpxe7fu0cj_hp_relaxed.owl colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte|common myeloid precursor, CD34-positive|multipotential myeloid stem cell|myeloid stem cell|CMP|pluripotent stem cell (bone marrow)|CFU-GEMM|CFU-S CMP are reportedly CD16-positive, CD32-positive, CD38-positive, CD45RA-negative, CD110-negative, CD117-positive, CD123-positive, and SCA1-negative. cell owl:Class HP:0100547 biolink:NamedThing Abnormality of forebrain morphology An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of forebrain|Abnormality of the forebrain UMLS:C4020967 doelkens 2010-12-21T02:12:53Z human_phenotype owl:Class Nfdb4ae7e9c6d4d6f92b431f67f3c66ef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000086 biolink:NamedThing zona pellucida A glycoprotein membrane surrounding the plasma membrane of an oocyte. It is a vital constitutive part of the latter, external but not extraneous to it. The zona pellucida first appears in multilaminar primary oocytes. tmpxe7fu0cj_hp_relaxed.owl zona striata|vitelline envelope|striated membrane|vitelline membrane|oolemma|zona pellucida - vitelline membrane|zona radiata|pellucid zone EHDAA:31|UMLS:C0043519|MA:0001715|GAID:410|VHOG:0000720|BTO:0003135|ZFA:0001111|EMAPA:16035|TAO:0001111|MESH:D015044|EHDAA:62|NCIT:C33896|FMA:18674|EHDAA2:0002220 http://upload.wikimedia.org/wikipedia/commons/8/81/Gray3.png uberon owl:Class Outside the plasma membrane, three envelopes surround the ovum. The first, the primary egg envelope, lies between the plasma membrane and the surrounding cells of the ovary. The most consistent component of this primary layer is the vitelline membrane, a transparent jacket of fibrous protein. In mammals, the homologous structure is called the zona pellucida.[well established][VHOG] UBERON:0001100 biolink:NamedThing pectoralis minor The Pectoralis minor is a thin, triangular muscle, situated at the upper part of the chest, beneath the Pectoralis major. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl supracoracoideus muscle|musculus pectoralis minor|pectoralis minor muscle|supracoracoideus EMAPA:18180|VHOG:0000902|MA:0002355|EHDAA:8313|UMLS:C0224347|NCIT:C33285|EHDAA2:0001425|FMA:13109 Pectoralis:minor.png uberon owl:Class UBERON:0004219 biolink:NamedThing urethra smooth muscle layer A portion of smooth muscle tissue that is part of a urethra [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscular layer of urethra|smooth muscle tissue of urethra|muscular coat of urethra|tunica muscularis urethrae|urethral smooth muscle|urethra smooth muscle tissue|muscle layer of urethra|smooth muscle of urethra FMA:76909|MA:0001691|EMAPA:36630 uberon owl:Class GO:0045660 biolink:NamedThing positive regulation of neutrophil differentiation Any process that activates or increases the frequency, rate or extent of neutrophil differentiation. tmpxe7fu0cj_hp_relaxed.owl stimulation of neutrophil differentiation|up-regulation of neutrophil differentiation|upregulation of neutrophil differentiation|activation of neutrophil differentiation|up regulation of neutrophil differentiation biological_process owl:Class GO:0030223 biolink:NamedThing neutrophil differentiation The process in which a myeloid precursor cell acquires the specialized features of a neutrophil. tmpxe7fu0cj_hp_relaxed.owl neutrophil cell differentiation|neutrophil granulocyte differentiation|neutrophil granulocytopoiesis biological_process owl:Class N3a140f1e747e458f914174781d7652ca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011565 biolink:NamedThing lumen of gastrointestinal system tmpxe7fu0cj_hp_relaxed.owl lumen of gastrointestinal tract|gastrointestinal tract lumen|cavity of digestive tract|cavity of gastrointestinal tract FMA:54364|SCTID:432899004 uberon owl:Class UBERON:0001007 biolink:NamedThing digestive system Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes. tmpxe7fu0cj_hp_relaxed.owl gastrointestinal system|gut|alimentary tract|alimentary system MA:0002431|FBbt:00005055|MAT:0000018|BTO:0000058|GAID:278|ZFA:0000339|Wikipedia:Digestive_system|ncithesaurus:Digestive_System|AAO:0000129|FMA:7152|MESH:D004064|TAO:0000339|TADS:0000170|SCTID:278859004|MIAA:0000018|EV:0100056|galen:DigestiveSystem|WBbt:0005748|XAO:0000125|BILA:0000082|EFO:0000793|CALOHA:TS-1293 uberon owl:Class An anatomical system consisting of the alimentary canal and digestive glands responsible for intake, absorption, digestion and excretion of food.[AAO] digestive many anatomy ontologies consider gastrointestinal system synonymous with digestive system. here we follow MA in dividing digestive system into gastrointestinal and hepatobiliary. hepatobiliary includes the liver and biliary tract. species-specific AO classes are categorized according to whether liver is included. For example, XAO includes liver as part of XAO:0000125 alimentary system, so we assume this class is the more generic class UBERON:0036267 biolink:NamedThing vulval vein tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0009680 biolink:NamedThing set of upper jaw teeth A tooth row that is part of a skeleton of upper jaw. tmpxe7fu0cj_hp_relaxed.owl upper jaw teeth|upper dental arcade|arcus dentalis superior|set of all upper teeth|maxillary dental arcade FMA:55634|EHDAA2:0002129 uberon owl:Class UBERON:0004035 biolink:NamedThing cortical subplate The transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate. tmpxe7fu0cj_hp_relaxed.owl subplate zone|cerebral cortex subplate|subplate|SP PBA:294021932|DHBA:10522|https://upload.wikimedia.org/wikipedia/commons/thumb/a/ac/Corticogenesis_in_a_wild-type_mouse_with_captions_in_english_copy.png/360px-Corticogenesis_in_a_wild-type_mouse_with_captions_in_english_copy.png|Wikipedia:Subplate|EMAPA:32703|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=3233 uberon owl:Class The transient fetal subplate zone, together with the marginal zone and the cortical plate, represents the developmental anlage of the mammalian cerebral cortex. It serves as a waiting compartment for growing cortical afferents; its cells are involved in the establishment of pioneering cortical efferent projections and transient fetal circuitry, and apparently have a number of other developmental roles. The subplate zone is a phylogenetically recent structure and it is most developed in the human brain. Subplate neurons are among the first generated neurons in the mammalian cerebral cortex [1]. These neurons disappear during postnatal development and are important in establishing the correct wiring [2][3] and functional maturation [4] of the cerebral cortex. Subplate neurons appear to be selectively sensitive to injury (such as hypoxia) which in humans are associated with motor and cognitive defects UBERON:0034711 biolink:NamedThing cortical preplate The layer of the developing cerebral cortex that is formed from the first cohort of neurons to migrate out of the cortical ventricular zone; split by the second wave into marginal zone and subplate. tmpxe7fu0cj_hp_relaxed.owl EMAPA:35261 uberon owl:Class UBERON:0005270 biolink:NamedThing renal cortex interstitium A compartment of the renal cortex situated between basement membranes of epithelia and vessels that contains two contiguous cellular networks in mutual contact, one formed by interstitial fibroblasts, the other by dendritic cells. tmpxe7fu0cj_hp_relaxed.owl cortical stroma|kidney cortex interstitium|renal cortical interstitial tissue EMAPA:28136|MA:0002608 uberon owl:Class In the renal cortex, interstitial fibroblasts produce erythropoietin and are distinguished from other interstitial cells by their prominent F-actin cytoskeleton, abundance of rough endoplasmic reticulum, and by ecto-5'-nucleotidase expression in their plasma membrane. The resident dendritic cells belong to the mononuclear phagocyte system and fulfil a sentinel function. They are characterized by their expression of MHC class II and CD11c. HP:0000364 biolink:NamedThing Hearing abnormality An abnormality of the sensory perception of sound. tmpxe7fu0cj_hp_relaxed.owl Hearing abnormality|Abnormal hearing UMLS:C4025860 According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear. human_phenotype owl:Class Nfddb7c21799e48528c1b8452af33e8ff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0070168 biolink:NamedThing negative regulation of biomineral tissue development Any process that stops, prevents, or reduces the frequency, rate or extent of biomineral tissue development, the formation of hard tissues that consist mainly of inorganic compounds. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0003915 biolink:NamedThing endothelial tube Any endothelium that has the quality of being cylindrical [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0001580 biolink:NamedThing levator labii superioris The levator labii superioris (or quadratus labii superioris) is a broad sheet, the origin of which extends from the side of the nose to the zygomatic bone. Its medial fibers form the angular head, which arises by a pointed extremity from the upper part of the frontal process of the maxilla and passing obliquely downward and lateralward divides into two slips. One of these is inserted into the greater alar cartilage and skin of the nose; the other is prolonged into the lateral part of the upper lip, blending with the infraorbital head and with the Orbicularis oris. The intermediate portion or infraorbital head arises from the lower margin of the orbit immediately above the infraorbital foramen, some of its fibers being attached to the maxilla, others to the zygomatic bone. Its fibers converge, to be inserted into the muscular substance of the upper lip between the angular head and the Caninus. The lateral fibers, forming the zygomatic head, arise from the malar surface of the zygomatic bone immediately behind the zygomaticomaxillary suture and pass downward and medialward to the upper lip. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl musculus levator labii superioris NCIT:C53164|FMA:46805|UMLS:C1704248|MA:0002333|MFMO:0000136|EMAPA:37503 http://upload.wikimedia.org/wikipedia/commons/8/8f/Levator_labii_superioris.png uberon owl:Class HP:0004437 biolink:NamedThing Cranial hyperostosis Excessive growth of the bones of cranium, i.e., of the skull. tmpxe7fu0cj_hp_relaxed.owl Hyperostosis of cranial vault|Increased ossification of cranial bones|Overgrowth of skull bones|Enlargement of skull bones|Hypertrophy of cranial bones|Excessive growth of skull bones|Hyperostosis of cranial bones|Thick skull bones UMLS:C4280529|UMLS:C4280528|UMLS:C4280530|UMLS:C1832451|UMLS:C4280531 peter 2008-03-18T09:57:00Z HP:0002698 human_phenotype owl:Class N48f9e77fb1c14ea2a8ba77f7ae33820c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc2155aa7f8b1496591127454149a1661 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:8410057 biolink:NamedThing capillary of colon A capillary that is part of the colon. tmpxe7fu0cj_hp_relaxed.owl blood vessel capillary of colon http://orcid.org/0000-0002-2825-0621 uberon owl:Class UBERON:0035198 biolink:NamedThing superficial lymphatic vessel The tubules that carry lymph throughout the body that are just beneath the surface of the skin. tmpxe7fu0cj_hp_relaxed.owl superficial lymph vessel NCIT:C33663|FMA:52011 uberon owl:Class HP:0001331 biolink:NamedThing Absent septum pellucidum Absence of the septum pellucidum. tmpxe7fu0cj_hp_relaxed.owl Missing septum pellucidum|Absence of septum pellucidum|Agenesis of the septum pellucidum|Absence of the septum pellucidum SNOMEDCT_US:253143001|UMLS:C0431371|MSH:C535562 TODO: Bundled term. Revise annotations and split this term. HP:0006969 human_phenotype owl:Class N52a19dcf08fd4d09beddac690465fb94 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000159 biolink:NamedThing anal canal The terminal part of the large intestine, continuous proximally with the rectum and distally terminates with the anus. tmpxe7fu0cj_hp_relaxed.owl mesenteron|anal pad|cloaca|cloacal chamber|anal canal|pars analis recti|anal canal viewed anatomically|anatomical anal canal|anus|canalis analis BTO:0001978|galen:AnalCanal|FMA:15703|EMAPA:18256|CALOHA:TS-2160|NCIT:C12375|MA:0000330|UMLS:C0227411 https://upload.wikimedia.org/wikipedia/commons/0/01/Gray1078.png requires alignment with EHDAA2 and complete developmental relationships uberon owl:Class CL:0002034 biolink:NamedThing long term hematopoietic stem cell A hematopoietic stem cell with long term self renewal capability. This cell is Kit-positive, Sca1-positive, CD150-positive, CD90-low, CD34-negative and Flt3-negative. tmpxe7fu0cj_hp_relaxed.owl LT-HSC|LT stem cell Markers are associated with mouse cells. tmeehan 2010-01-08T09:19:28Z cell owl:Class CHEBI:36277 biolink:NamedThing bile acid salt tmpxe7fu0cj_hp_relaxed.owl owl:Class N33c9dad6bf8e4ff49b1301da3d031120 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3d49f5525e9e4e2eb487b6f8976a3133 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015873 biolink:NamedThing heel skin A zone of skin that is part of a heel. tmpxe7fu0cj_hp_relaxed.owl skin of heel EMAPA:37354|MA:0003104 uberon owl:Class UBERON:0015875 biolink:NamedThing heel The part of the foot that is the projection of the calcaneus. tmpxe7fu0cj_hp_relaxed.owl heel region|regio calcanea|calcaneal region FMA:24994|MESH:D006365 uberon owl:Class CHEBI:33708 biolink:NamedThing amino-acid residue When two or more amino acids combine to form a peptide, the elements of water are removed, and what remains of each amino acid is called an amino-acid residue. tmpxe7fu0cj_hp_relaxed.owl amino acid residue|amino-acid residue|amino-acid residues|protein residue chebi_ontology owl:Class CHEBI:50299 biolink:NamedThing canonical ribonucleotide residue tmpxe7fu0cj_hp_relaxed.owl canonical ribonucleotide residues chebi_ontology owl:Class UBERON:0005080 biolink:NamedThing metanephric ureteric bud The portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class Ncb2ef8163756406da0f9c9692a64fbd9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf89c193ca60d4517802f25a83eb2a1ad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:78675 biolink:NamedThing fundamental metabolite Any metabolite produced by all living cells. tmpxe7fu0cj_hp_relaxed.owl essential metabolite|fundamental metabolites|essential metabolites chebi_ontology owl:Class GO:0015718 biolink:NamedThing monocarboxylic acid transport The directed movement of monocarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009464 biolink:NamedThing Ulnar deviation of the 2nd finger Displacement of the 2nd (index) finger towards the ulnar side. tmpxe7fu0cj_hp_relaxed.owl Second finger ulnar deviation|Medially deviated index finger|Ulnar angulation of the index finger|Ulnar deviation of index fingers UMLS:C1844891 doelkens 2009-01-15T09:37:48Z HP:0004102|HP:0005811 human_phenotype owl:Class N896902d26d964ccab93491d4a840a1e5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1c3efb05c2574404946ec8071eb66fd1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001323 biolink:NamedThing tibial nerve The tibial nerve is a branch of the sciatic nerve. The tibial nerve passes through the popliteal fossa to pass below the arch of soleus. In the popliteal fossa the nerve gives off branches to gastrocnemius, popliteus, soleus and plantaris muscles, an articular branch to the knee joint, and a cutaneous branch that will become the sural nerve. The sural nerve is joined by fibres from the common peroneal nerve and runs down the calf to supply the lateral side of the foot. Below the soleus muscle the nerve lies close to the tibia and supplies the tibialis posterior, the flexor digitorum longus and the flexor hallucis longus. The nerve passes into the foot running posterior to the medial malleolus. Here it is bound down by the flexor retinaculum in company with the posterior tibial artery. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl medial popliteal nerve|n. tibialis FMA:19035|GAID:854|EMAPA:36512|NCIT:C52809|MESH:D013979|UMLS:C0040186|MA:0001173|OpenCyc:Mx4rwNya8JwpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/1/1a/Gray828.png uberon owl:Class HP:0009435 biolink:NamedThing Symphalangism of middle phalanx of 3rd finger Fusion of the middle phalanx of the 3rd finger with another bone. tmpxe7fu0cj_hp_relaxed.owl Fused middle bone of middle finger UMLS:C4024363 doelkens 2009-01-14T03:41:31Z human_phenotype owl:Class N57adad27a3fc4d298df0f3a23b7bbe37 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N77c6c872251741d9b24b55cd603f648a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002415 biolink:NamedThing tail An external caudal extension of the body. In chordates, the tail is post-anal, in other animals the anus ends in the tail. tmpxe7fu0cj_hp_relaxed.owl caudal subdivision MESH:D013623|MIAA:0000094|WBbt:0005741|BILA:0000117|EHDAA:9198|GAID:1245|BTO:0001348|OpenCyc:Mx4rvVjiC5wpEbGdrcN5Y29ycA|MAT:0000094|EFO:0000963|AEO:0000109 Note we also have a subclass post-anal tail, for the chordate specific structure. currently defined very generally, inclusive of caudal fin uberon owl:Class UBERON:0000154 biolink:NamedThing posterior region of body tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0007074 biolink:NamedThing Thick corpus callosum Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. tmpxe7fu0cj_hp_relaxed.owl Abnormal size of corpus callosum|Large corpus callosum UMLS:C1835194 HP:0200010|HP:0006805|HP:0006807|HP:0200009 human_phenotype owl:Class Nca825fe7fcd840029e28c8961ad88ec8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0035992 biolink:NamedThing tendon formation The process that gives rise to a tendon. This process pertains to the initial formation of a tendon from unspecified parts. tmpxe7fu0cj_hp_relaxed.owl bf 2011-08-30T01:35:10Z biological_process owl:Class GO:0035989 biolink:NamedThing tendon development The process whose specific outcome is the progression of a tendon over time, from its formation to the mature structure. A tendon is a fibrous, strong, connective tissue that connects muscle to bone or integument and is capable of withstanding tension. Tendons and muscles work together to exert a pulling force. tmpxe7fu0cj_hp_relaxed.owl sinew development bf 2011-08-26T04:14:30Z biological_process owl:Class UBERON:0005996 biolink:NamedThing mitral valve cusp The two fibrous components and associated flaps of the mitral valve. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0090596 biolink:NamedThing sensory organ morphogenesis Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. tmpxe7fu0cj_hp_relaxed.owl tb 2014-08-22T13:23:20Z biological_process owl:Class GO:0003260 biolink:NamedThing cardioblast migration The orderly movement of a cardiac progenitor cell to form the heart field. Cardiac progenitor cells are non-terminally differentiated, mesoderm-derived cells that are committed to differentiate into cells of the heart. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-15T01:52:25Z biological_process owl:Class CL:0002664 biolink:NamedThing cardioblast A stem cell that can give rise to multiple cell types (i.e. smooth muscle, endothelial) in the developing heart. tmpxe7fu0cj_hp_relaxed.owl cardiovascular progenitor cell|CPC Discrepancy in develops from origins prevents me from making the assertion that cardioblasts give rise to all instances of cardiocytes as we state cardiac muscle cells develop from cardiac myoblast, which in turn develop from muscle stem cell. tmeehan 2011-07-11T03:15:38Z cell owl:Class UBERON:0009039 biolink:NamedThing lymph node germinal center A germinal center that is located in a lymph node. tmpxe7fu0cj_hp_relaxed.owl lymph node nodule|lymph node central zone|lymph node light zone|lymph node activated zone|germinal center CALOHA:TS-1269|NCIT:C49757|BTO:0003671|MA:0002989|EMAPA:35528 uberon owl:Class UBERON:0010753 biolink:NamedThing lymph node secondary follicle A secondary follicle that is located in a lymph node. tmpxe7fu0cj_hp_relaxed.owl EMAPA:35531|FMA:312352|MA:0000744 uberon owl:Class UBERON:0001138 biolink:NamedThing superior mesenteric vein In anatomy, the superior mesenteric vein (SMV) is a blood vessel that drains blood from the small intestine. At its termination behind the neck of the pancreas, the SMV combines with the splenic vein to form the hepatic portal vein. The SMV lies to the right of the similarly named artery, the superior mesenteric artery, which originates from the abdominal aorta. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl upper mesenteric vein|vena mesenterica superior MA:0002179|OpenCyc:Mx4rwFjmM5wpEbGdrcN5Y29ycA|UMLS:C0226742|VHOG:0000552|NCIT:C33687|EHDAA:5414|EMAPA:18643|BTO:0002783|EHDAA2:0001951|FMA:14332 http://upload.wikimedia.org/wikipedia/commons/3/33/Gray591.png uberon owl:Class HP:0200024 biolink:NamedThing Premature chromatid separation The presence of premature sister chromatid segregation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021899 sebastiankohler 2010-06-16T05:13:30Z human_phenotype owl:Class N7583961e18bd40e08bcf0cfb743a1d10 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001070 biolink:NamedThing external carotid artery A terminal branch of the left or right common carotid artery which supplies oxygenated blood to to the throat, neck glands, tongue, face, mouth, ear, scalp and dura mater of the meninges[MP]. tmpxe7fu0cj_hp_relaxed.owl arteria carotis externa|external carotid FMA:10635|XAO:0000345|AAO:0010416|UMLS:C0007275|EHDAA2:0000461|BTO:0004696|SCTID:362044002|GAID:480|EFO:0001953|Wikipedia:External_carotid_artery|NCIT:C32551|OpenCyc:Mx4rwVJkPZwpEbGdrcN5Y29ycA|MESH:D002342|AAO:0010218|VHOG:0000265|EMAPA:18611|MA:0001929 http://upload.wikimedia.org/wikipedia/commons/1/13/External_carotid_a.gif uberon https://sourceforge.net/tracker/?func=detail&aid=3486863&group_id=76834&atid=1127722 owl:Class not homologous to the external carotid of zebrafish (Goodrich, 1958) - http://zfish.nichd.nih.gov/zfatlas/Intro%20Page/comparative.html; check XAO UBERON:0001674 biolink:NamedThing masseteric vein A plexiform vein accompanying the masseteric artery that empty into the pterygoid venous plexus. tmpxe7fu0cj_hp_relaxed.owl masseteric veins MA:0002167|UMLS:C0925179|FMA:52519|NCIT:C53051|EMAPA:37168 uberon owl:Class HP:0500117 biolink:NamedThing Abnormal CSF urate concentration Abnormal concentration of urate in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl 2018-07-20 15:35:00+00:00 Urate is largely excluded from the brain under non-inflammatory conditions but increases in particular conditions such as Guillain-Barre Syndrome and bacterial meningitis. owl:Class Nd23845cea2004524903014a68447d27b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1901607 biolink:NamedThing alpha-amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of an alpha-amino acid. tmpxe7fu0cj_hp_relaxed.owl alpha-amino acid biosynthesis|alpha-amino acid formation|alpha-amino acid synthesis|alpha-amino acid anabolism tb 2012-11-08T17:39:58Z biological_process owl:Class GO:0090741 biolink:NamedThing pigment granule membrane Any membrane that is part of a pigment granule. tmpxe7fu0cj_hp_relaxed.owl tb 2017-05-16T22:33:39Z cellular_component owl:Class GO:0048770 biolink:NamedThing pigment granule A small, subcellular membrane-bounded vesicle containing pigment and/or pigment precursor molecules. Pigment granule biogenesis is poorly understood, as pigment granules are derived from multiple sources including the endoplasmic reticulum, coated vesicles, lysosomes, and endosomes. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:0032432 biolink:NamedThing actin filament bundle tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0005884 biolink:NamedThing actin filament tmpxe7fu0cj_hp_relaxed.owl owl:Class N2691b8452c1543e6a6b67e0e31888cd3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009471 biolink:NamedThing Contracture of the proximal interphalangeal joint of the 3rd finger Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. tmpxe7fu0cj_hp_relaxed.owl Camptodactyly of the third finger|Camptodactyly of the 3rd finger UMLS:C4021467 doelkens 2009-01-15T09:50:20Z human_phenotype owl:Class Ne3dd672b9c694ac2a5fed6a2026cba7a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002543 biolink:NamedThing vein endothelial cell An endothelial cell that is part of the vein. tmpxe7fu0cj_hp_relaxed.owl endothelial cell of vein|venous endothelial cell KUPO:0001099|FMA:62104 tmeehan 2011-02-28T03:48:11Z CL:1000393 cell owl:Class CHEBI:17012 biolink:NamedThing N-acetylneuraminic acid An N-acylneuraminic acid where the N-acyl group is specified as acetyl. tmpxe7fu0cj_hp_relaxed.owl WURCS=2.0/1,1,0/[Aad21122h-2x_2-6_5*NCC/3=O]/1/|Neu5Ac|acido aceneuramico|aceneuramic acid|Aceneuramic acid|N-Acetylneuraminic acid|NeuAc|acide aceneuramique|5-acetamido-3,5-dideoxy-D-glycero-D-galacto-non-2-ulopyranosonic acid|O-sialic acid|acidium aceneuramicum|5-Acetamido-3,5-dideoxy-D-glycero-D-galacto-2-nonulosonic acid 0 C11H19NO9 InChI=1S/C11H19NO9/c1-4(14)12-7-5(15)2-11(20,10(18)19)21-9(7)8(17)6(16)3-13/h5-9,13,15-17,20H,2-3H2,1H3,(H,12,14)(H,18,19)/t5-,6+,7+,8+,9+,11?/m0/s1 SQVRNKJHWKZAKO-LUWBGTNYSA-N 309.26990 309.10598 [H][C@]1(OC(O)(C[C@H](O)[C@H]1NC(C)=O)C(O)=O)[C@H](O)[C@H](O)CO PMID:16624269|PMID:19329108|PMID:18487279|Wikipedia:N-acetylneuraminic_acid|PMID:7508418|GlyGen:G81533KY|CAS:131-48-6|PMID:8448384|Beilstein:2951361|KEGG:C00270|PMID:14960498|GlyTouCan:G81533KY|Reaxys:1398688|KNApSAcK:C00019584|PMID:16209099 CHEBI:7214|CHEBI:21620 chebi_ontology owl:Class N6e12b402afbc47b4bc1f0b8ca4a191f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:2000818 biolink:NamedThing negative regulation of myoblast proliferation Any process that stops, prevents or reduces the frequency, rate or extent of myoblast proliferation. tmpxe7fu0cj_hp_relaxed.owl pr 2011-07-12T03:06:04Z biological_process owl:Class GO:0051450 biolink:NamedThing myoblast proliferation The multiplication or reproduction of myoblasts, resulting in the expansion of a myoblast cell population. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N16e2ee2f961549508db60dc67d51d5cc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9f79219d570a427bb256a9ab5f908ba3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0061556 biolink:NamedThing trigeminal ganglion morphogenesis The process in which the anatomical structure of a trigeminal ganglion is generated and organized. tmpxe7fu0cj_hp_relaxed.owl trigeminal ganglia morphogenesis dph 2013-07-10T08:57:12Z biological_process owl:Class HP:0012311 biolink:NamedThing Monocytosis An increased number of circulating monocytes. tmpxe7fu0cj_hp_relaxed.owl High blood monocyte number UMLS:C0085702|SNOMEDCT_US:19636003 peter 2013-08-10T12:09:16Z human_phenotype owl:Class N2fecf43bd8554ded87fb0f8837b22edf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:63070 biolink:NamedThing beta-alaninate A beta-amino-acid anion that is the conjugate base of beta-alanine. tmpxe7fu0cj_hp_relaxed.owl 3-aminopropanoate|beta-alaninate(1-)|beta-alaninate anion -1 C3H6NO2 InChI=1S/C3H7NO2/c4-2-1-3(5)6/h1-2,4H2,(H,5,6)/p-1 UCMIRNVEIXFBKS-UHFFFAOYSA-M 88.08520 88.04040 NCCC([O-])=O Reaxys:3536336 chebi_ontology owl:Class Ne8bf4cac250f493084b713b99da47131 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006431 biolink:NamedThing xiphoid process bone A bone tissue that is part of a xiphoid process. tmpxe7fu0cj_hp_relaxed.owl bone tissue of xiphoid process|xiphoid bone GAID:248|FMA:32577 uberon owl:Class N3486306edb15410ab551f3ef75a10213 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009894 biolink:NamedThing Thickened ears Increased thickness of the external ear. tmpxe7fu0cj_hp_relaxed.owl Thickened ears UMLS:C4024168 peter 2009-04-30T10:09:17Z human_phenotype owl:Class Nda3d242bd81643719061ba438e5fd308 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010134 biolink:NamedThing secretory circumventricular organ A circumventricular organ that is capable of secreting substances into the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl EMAPA:35759|MA:0002943 uberon owl:Class UBERON:0000949 biolink:NamedThing endocrine system Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity. tmpxe7fu0cj_hp_relaxed.owl endocrine glandular system|endocrine system|systema endocrinum ZFA:0001158|AAO:0010279|NCIT:C12705|EMAPA:35306|FMA:9668|UMLS:C0014136|VHOG:0000098|MA:0000012|XAO:0000158|FBbt:00005068|EFO:0002969|SCTID:278876000|EV:0100128|TAO:0001158|MESH:D004703|Wikipedia:Endocrine_system|GAID:439|CALOHA:TS-1301|EHDAA2:0002224 uberon owl:Class Anatomical system containing glands which regulates bodily functions though the secretion of hormones.[AAO] Multicellular organisms have complex endocrine systems, allowing responses to environmental stimuli, regulation of development, reproduction, and homeostasis. Nuclear receptors (NRs), a metazoan-specific family of ligand-activated transcription factors, play central roles in endocrine responses, as intermediates between signaling molecules and target genes. The NR family includes ligand-bound and orphan receptors, that is, receptors with no known ligand or for which there is no ligand Pocket. Understanding NR evolution has been further improved by comparison of several completed genomes, particularly those of deuterostomes and ecdysozoans. In contrast, evolution of NR ligands is still much debated. One hypothesis proposes that several independent gains and losses of ligand-binding ability in NRs occurred in protostomes and deuterostomes. A second hypothesis, pertaining to the NR3 subfamily (vertebrate steroid hormone receptors and estrogen related receptor), proposes that before the divergence of protostomes and deuterostomes, there was an ancestral steroid receptor (AncSR) that was ligand-activated and that orphan receptors secondarily lost the ability to bind a ligand. (...) Our analysis reveals that steroidogenesis has been independently elaborated in the 3 main bilaterian lineages (...).[well established][VHOG] endocrine HP:0011047 biolink:NamedThing Agenesis of primary mandibular central incisor Agenesis of lower primary incisor. tmpxe7fu0cj_hp_relaxed.owl Absence of deciduous mandibular central incisor|Failure of development of deciduous mandibular central incisor|Missing deciduous mandibular central incisor|Agenesis of deciduous lower central incisor|Missing lower front baby tooth|Missing lower front primary tooth|Missing lower front milk tooth|Agenesis of primary lower central incisor|Missing primary mandibular central incisor|Absence of primary mandibular central incisor|Missing lower central incisor milk tooth|Failure of development of primary mandibular central incisor UMLS:C4280356|UMLS:C4023570|UMLS:C4280355 peter 2011-03-10T11:14:55Z human_phenotype owl:Class N0c2a2ad32bfb4f199a5f1798572d9d23 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc2571d64ef7c4f58bb2f2e611a9b36f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011390 biolink:NamedThing Morphological abnormality of the inner ear A structural anomaly of the internal part of the ear. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023381 The inner ear contains the cochlea and the semicircular canals. hecht 2012-03-09T04:59:24Z human_phenotype owl:Class N62ed614a29f540118d0514449eb03620 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0097252 biolink:NamedThing oligodendrocyte apoptotic process Any apoptotic process in an oligodendrocyte. Oligodendrocytes belong to a class of large neuroglial (macroglial) cells in the central nervous system, where they form the insulating myelin sheath of axons. tmpxe7fu0cj_hp_relaxed.owl oligodendrocyte apoptosis pr 2012-03-05T10:51:15Z biological_process owl:Class GO:2000352 biolink:NamedThing negative regulation of endothelial cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of endothelial cell programmed cell death by apoptosis|negative regulation of programmed cell death, endothelial cells|negative regulation of programmed cell death of endothelial cells by apoptosis|negative regulation of killing of endothelial cells|negative regulation of apoptosis of endothelial cells|negative regulation of endothelial cell apoptosis mah 2011-02-03T10:43:20Z biological_process owl:Class GO:0072577 biolink:NamedThing endothelial cell apoptotic process Any apoptotic process in an endothelial cell. An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. tmpxe7fu0cj_hp_relaxed.owl programmed cell death, endothelial cells|apoptosis of endothelial cells|killing of endothelial cells|programmed cell death of endothelial cells by apoptosis|endothelial cell apoptosis|endothelial cell programmed cell death by apoptosis mah 2011-02-02T03:56:24Z biological_process owl:Class UBERON:0005404 biolink:NamedThing frontonasal suture A suture between frontal and nasal bones. tmpxe7fu0cj_hp_relaxed.owl frontonasal suture of skull|articulation of the nasal bone with frontal bone FMA:52948|MA:0002973|EMAPA:35359 uberon owl:Class HP:0006429 biolink:NamedThing Broad femoral neck An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). tmpxe7fu0cj_hp_relaxed.owl Wide femoral neck|Broadening of femoral neck|Widened femoral necks|Wide neck of thigh bone UMLS:C1849016 HP:0008781|HP:0003369|HP:0008782|HP:0003372|HP:0008836 human_phenotype owl:Class Nf50e4b39b815498ca0f43d82d85cc57f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0043226 biolink:NamedThing organelle Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Organelle|NIF_Subcellular:sao1539965131 cellular_component owl:Class GO:0031641 biolink:NamedThing regulation of myelination Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0051321 biolink:NamedThing meiotic cell cycle tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0003882 biolink:NamedThing Slender humerus Reduction in diameter of the humerus. tmpxe7fu0cj_hp_relaxed.owl Slender long bone of upper arm UMLS:C4021851 human_phenotype owl:Class N0de66e18b1574f3891f446335bf5089c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndd7a551fdb8b436887a13010aaee8b39 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0016530 biolink:NamedThing parietal cortex Gray matter of the parietal region of the neocortex, located in the parietal lobe of gyrencephalic animals. It is continuous anteriorly with the frontal cortex, posteriorly with the occipital cortex and medially with the insular cortex and with the temporal cortex on the posterior/inferior border. tmpxe7fu0cj_hp_relaxed.owl gray matter of parietal lobe|cortex of parietal lobe|parietal lobe cortex|parietal neocortex DMBA:16016|EMAPA:35667|MA:0000916|DHBA:10208|NLX:79282|FMA:242203 uberon owl:Class N2da167c2a5a44cf6b64f5bd609ee09a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3387775e094d475f8ac307527c877ed2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:8410056 biolink:NamedThing capillary of anorectum A capillary that is part of the anorectum. tmpxe7fu0cj_hp_relaxed.owl blood vessel capillary of anorectum http://orcid.org/0000-0002-2825-0621 uberon owl:Class UBERON:8410050 biolink:NamedThing anorectum A subdivision of the digestive tract in humans that includes the rectum, the anal canal and the anus. tmpxe7fu0cj_hp_relaxed.owl anorectal canal http://orcid.org/0000-0002-2825-0621 The anatomy, pathology and medical community considers the anus to be part of the large intestine, and supports the use of 'anorectum' to include rectum, anal canal and anus. Although a few resources seem to only include the distal part of the rectum in 'anorectum', this UBERON grouping term is meant to refer more broadly to the whole of rectum. uberon Homo sapiens owl:Class anorectal HP:0012613 biolink:NamedThing Increased urinary sulfate Elevated concentration of SO4(2-), i.e., sulfate, in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urinary sulphate UMLS:C4022820 peter 2014-01-17T11:58:51Z human_phenotype owl:Class N6d3e134816394cf7b24e7b3fbd034639 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010253 biolink:NamedThing 1st arch maxillary mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 1st arch maxillary mesenchyme. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000044 uberon owl:Class GO:0031076 biolink:NamedThing embryonic camera-type eye development The process occurring during the embryonic phase whose specific outcome is the progression of the eye over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl embryonic eye development biological_process owl:Class HP:0011937 biolink:NamedThing Hypoplastic fifth toenail Underdeveloped nails of the fifth toes. tmpxe7fu0cj_hp_relaxed.owl Small fifth toenail|Underdeveloped fifth toenail UMLS:C4023116 peter 2012-06-10T04:27:42Z human_phenotype owl:Class N3f1449ba50aa4f79813f2e7479f3072d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011743 biolink:NamedThing Adrenal gland agenesis Absent development of the adrenal gland. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:83190008|UMLS:C0266273|MSH:C538429|SNOMEDCT_US:702615004 peter 2012-04-21T09:46:49Z human_phenotype owl:Class N7d1f7fa376f64c58b2723ab412a8e870 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000097 biolink:NamedThing mast cell A cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. Progenitors leave bone marrow and mature in connective and mucosal tissue. Mature mast cells are found in all tissues, except the bloodstream. Their phenotype is CD117-high, CD123-negative, CD193-positive, CD200R3-positive, and FceRI-high. Stem-cell factor (KIT-ligand; SCF) is the main controlling signal of their survival and development. tmpxe7fu0cj_hp_relaxed.owl labrocyte|tissue basophil|histaminocyte|mastocyte CALOHA:TS-0603|FMA:66784|BTO:0000830 Mast cells are generally integrin beta-7-negative and positive for TLR2, TLR3, TLR4, TLR5, TLR7, TLR9, C3aR, C5aR, CR3, CR4, VEGF, FGF2, and renin. They can express MHC Class I and II on their surface. Activated murine mast cells (IgE+Antigen) were capable of expressing the following co-stimulatory molecules: CD95 (Fas), CD120b, CD137 (4-1BB), CD153 (CD30L), CD154 (CD40L), GITR, ICOSL, OX40L, PD-L1, and PD-L2. Note that there was some mouse strain variation. Mast cells have also been demonstrated to produce bFGF, CCL2, CCL4, CCL5, CCL11, CCL20, CXCL2, CXCL8, CXCL10, GM-CSF, IFN-gamma, IL-1, IL-2, IL-3, IL-8, IL-10, IL-11, IL-12, IL-13, IL-16, IL-25, IL-18, MIP-1, prostaglandin D2, SCF, TGF-beta, TNF-alpha, TSLP, VEGF, and XCL1. They express the transcription factors Transcription factors AP-1, GATA1, MITF, Notch2, PIAS3, PU.1, and STAT5. cell owl:Class CL:0000831 biolink:NamedThing mast cell progenitor A progenitor cell of the mast cell lineage. Markers for this cell are FceRIa-low, CD117-positive, CD9-positive, T1/ST2-positive, SCA1-negative, and lineage-negative. tmpxe7fu0cj_hp_relaxed.owl colony forming unit mast cell|MCP|CFU-MC|CFU-Mast MCP are CD16-positive, CD32-positive, CD34-positive, CD45-positive, integrin beta-7-positive, and lin-negative (CD2, CD3e, CD4, CD5, CD8a, CD14, CD19, CD20, CD27, integrin alpha-M, ly6c, ly6g, NCAM-1, and ter119). These cells also express the transcription factors GATA-1, GATA-2, and MITF, but not C/EBPa. cell owl:Class UBERON:0002491 biolink:NamedThing lambdoid suture The dense, fibrous connective tissue joint between the parietal bones and the occipital bone. tmpxe7fu0cj_hp_relaxed.owl lambdoid suture of skull|lambdoidal suture|sutura lambdoidea EMAPA:19227|MA:0002797|FMA:52933 Gray188-Lambdoid:suture.png uberon owl:Class UBERON:0001678 biolink:NamedThing temporal bone The large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous. tmpxe7fu0cj_hp_relaxed.owl os temporale EHDAA:6035|NCIT:C12797|EMAPA:17682|UMLS:C0039484|Wikipedia:Temporal_bone|SCTID:181795004|FMA:52737|VHOG:0000800|OpenCyc:Mx4rvbkAk5wpEbGdrcN5Y29ycA|MESH:D013701|MA:0001476|GAID:232 http://upload.wikimedia.org/wikipedia/commons/6/66/Illu_cranial_bones2.jpg uberon owl:Class fusion of squamosal + angular (tympanic annulus) [derm.] + petrosal (prootic + opisthotic)|In many mammals, as in humans, the petrosal, ectotympanic and squamosal bones synostose to form the temporal bone + styloid process The temporal bone consists of four parts: * Squama temporalis * Mastoid portion * Petrous portion (Petrosal ridge) * Tympanic part[WP]. Note the Temporal bone is not explicitly categorized to a part of the cranium in FMA CHEBI:24875 biolink:NamedThing iron cation tmpxe7fu0cj_hp_relaxed.owl iron cation|iron cations|Fe cation Fe 55.845 55.93494 chebi_ontology owl:Class HP:0002558 biolink:NamedThing Supernumerary nipple Presence of more than two nipples. tmpxe7fu0cj_hp_relaxed.owl Accessory nipple|accessory mamilla|Accessory nipples|Supernumerary nipples|Increased nipple number|accessory mamillas SNOMEDCT_US:50956007|MSH:C562557|Fyler:4234|UMLS:C0266011 HP:0002559 human_phenotype owl:Class N49648ea8c9ed47c79406efe18a71657d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010499 biolink:NamedThing Patellar subluxation The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella. tmpxe7fu0cj_hp_relaxed.owl Subluxation of patella|Partial knee cap dislocation UMLS:C0857276 peter 2009-09-17T11:46:41Z human_phenotype owl:Class N5ddc8c1709e74464abfee2c37e4af5e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004519 biolink:NamedThing muscle of anal triangle Any muscle organ that is part of a anal part of perineum. tmpxe7fu0cj_hp_relaxed.owl anal triangle muscle FMA:77304 uberon owl:Class GO:1905128 biolink:NamedThing positive regulation of axo-dendritic protein transport Any process that activates or increases the frequency, rate or extent of axo-dendritic protein transport. tmpxe7fu0cj_hp_relaxed.owl activation of axo-dendritic protein transport|up regulation of axonal protein transport|upregulation of axonal protein transport|upregulation of axo-dendritic protein transport|activation of axonal protein transport|up-regulation of axo-dendritic protein transport|up regulation of axo-dendritic protein transport|up-regulation of axonal protein transport|positive regulation of axonal protein transport sl 2016-04-11T20:38:48Z biological_process owl:Class GO:0032956 biolink:NamedThing regulation of actin cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. tmpxe7fu0cj_hp_relaxed.owl regulation of actin cytoskeleton organisation|regulation of actin cytoskeleton organization and biogenesis biological_process owl:Class GO:0048853 biolink:NamedThing forebrain morphogenesis The process in which the anatomical structures of the forebrain are generated and organized. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions). tmpxe7fu0cj_hp_relaxed.owl prosencephalon morphogenesis biological_process owl:Class GO:0048854 biolink:NamedThing brain morphogenesis The process in which the anatomical structures of the brain are generated and organized. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:26216 biolink:NamedThing potassium atom tmpxe7fu0cj_hp_relaxed.owl kalium|K|Kalium|19K|potasio|potassium 0 K InChI=1S/K ZLMJMSJWJFRBEC-UHFFFAOYSA-N 39.09830 38.96371 [K] CAS:7440-09-7|WebElements:K|DrugBank:DB01345|KEGG:C00238 chebi_ontology owl:Class UBERON:0009911 biolink:NamedThing lobule tmpxe7fu0cj_hp_relaxed.owl lobulus FMA:45737|UMLS:C0921005|NCIT:C12990 todo - provide definition. Clearly distinguish between lobules, lobes and acinar parts of glands (see for example lobule of mammary gland) uberon owl:Class HP:0009547 biolink:NamedThing Broad phalanges of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Wide/broad index finger phalanges|Wide index finger bones UMLS:C4021444 doelkens 2009-01-21T10:19:34Z HP:0004118 human_phenotype owl:Class Nee6e198e297847bc8df3c3ff983b3b2b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0001653 biolink:NamedThing peptide receptor activity Combining with an extracellular or intracellular peptide to initiate a change in cell activity. tmpxe7fu0cj_hp_relaxed.owl endogenous peptide receptor activity|exogenous peptide receptor activity molecular_function owl:Class GO:0042277 biolink:NamedThing peptide binding Binding to a peptide, an organic compound comprising two or more amino acids linked by peptide bonds. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class GO:0006887 biolink:NamedThing exocytosis A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. tmpxe7fu0cj_hp_relaxed.owl vesicle exocytosis|nonselective vesicle exocytosis Wikipedia:Exocytosis GO:0016194|GO:0016195 biological_process owl:Class HP:0041115 biolink:NamedThing Fractured right clavicle A partial or complete breakage of the right clavicle. tmpxe7fu0cj_hp_relaxed.owl bone right clavicle owl:Class N3e516e3130c64d5c949cad5da5fc3853 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1284dc4f0802464d93a822669841f5ea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neb65241b343a4bdfaac6091b0cf1f87b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:24828 biolink:NamedThing indoles Any compound containing an indole skeleton. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0410069 biolink:NamedThing Increased level of propylene glycol in blood An increase in the level of propylene glycol in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased level of propane-1,2-diol in blood 2018-01-29 22:57:39+00:00 ORCID:0000-0001-5208-3432 owl:Class Na4a53b989ff1494aa9ef2a4dce3917b0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009430 biolink:NamedThing Broad middle phalanx of the 3rd finger Increased width of the middle phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Wide/broad middle phalanx of middle-finger|Broad middle bone of middle finger UMLS:C4021476 doelkens 2009-01-14T03:41:31Z HP:0004178 human_phenotype owl:Class N4e8512a9a220406aa045692f2df9e083 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009117 biolink:NamedThing indifferent gonad A gonad prior to differentiating into a definitive testis or ovary. tmpxe7fu0cj_hp_relaxed.owl gonad rudiment NCIT:C34192|EHDAA2:0000716|UMLS:C1512703 typically part of the embryo - however, in male tammar wallabies the gonads are indifferent at the neonatal stage[8827321] uberon owl:Class GO:0010848 biolink:NamedThing regulation of chromatin disassembly Any process that modulates the frequency, rate or extent of chromatin disassembly. Chromatin disassembly is the controlled breakdown of chromatin from a higher order structure into its simpler subcomponents, DNA, histones, and other proteins. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0031498 biolink:NamedThing chromatin disassembly The controlled breakdown of chromatin from a higher order structure into its simpler subcomponents, DNA, histones, other proteins, and sometimes RNA. tmpxe7fu0cj_hp_relaxed.owl chromatin maintenance biological_process owl:Class UBERON:0015115 biolink:NamedThing distal tarsal bone 5 cartilage A distal tarsal bone 5 endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class N8800b3c222364b5cb23955c6ebcb08c3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0002309 biolink:NamedThing fiber shaped A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a by virtue of the bearer's exhibiting a consistently sized and approximately round cross-section along its length, which is many times larger than its diameter. tmpxe7fu0cj_hp_relaxed.owl Note that a fiber shaped object may take any circuitous or straight path through space (think of a length of string or rope). 2011-09-09T04:50:10Z quality owl:Class HP:0100392 biolink:NamedThing Short middle phalanx of the 3rd toe Developmental hypoplasia of the middle phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Short middle phalanx of the third toe|Hypoplastic/small middle phalanx of the 3rd toe UMLS:C4021005 human_phenotype owl:Class N5d1c05ecbb1c4913aedd06f1ac1c7600 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0048391 biolink:NamedThing intermediate mesoderm formation The process that gives rise to the intermediate mesoderm. This process pertains to the initial formation of the structure from unspecified parts. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0004582 biolink:NamedThing venous system The part of the cardiovascular system consisting of all venous vessels. In vertebrates with a double circulation, this can be divided into systemic and pulmonary portions. tmpxe7fu0cj_hp_relaxed.owl vein system MA:0002720|EMAPA:16240|EHDAA:486|EHDAA2:0002171|UMLS:C1267406|BTO:0004692|SCTID:362060003|VHOG:0000277|NCIT:C33858 uberon owl:Class The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] N426b66e8481640c0a19fdb035af64947 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncf0185f76f6b49b1af23ade4985772f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4674462722db4492be730ddee81488e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002408 biolink:NamedThing parietal serous pericardium Parietal serous membrane which is part of the pericardium and forms the outer layer of the pericardial sac. tmpxe7fu0cj_hp_relaxed.owl parietal layer of serous pericardium|lamina parietalis (pericardii serosum)|pericardial sac|lamina parietalis pericardii|parietal pericardium EHDAA:5378|NCIT:C94500|Wikipedia:Parietal_pericardium|MA:0000483|UMLS:C0225969|EHDAA:3422|EMAPA:19031|VHOG:0000537|FMA:9870|SCTID:243956000 http://upload.wikimedia.org/wikipedia/commons/7/7e/Gray489.png uberon owl:Class HP:0005638 biolink:NamedThing Decreased anterioposterior diameter of lumbar vertebral bodies tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025168 human_phenotype owl:Class Neac2001ef4d042aab5be4aa9fb16bd0b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004222 biolink:NamedThing stomach smooth muscle A portion of smooth muscle tissue that is part of a stomach [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl involuntary muscle of stomach|ventriculus non-striated muscle|smooth muscle tissue of stomach|smooth muscle tissue of ventriculus|stomach smooth muscle tissue|stomach non-striated muscle|ventriculus smooth muscle tissue|ventriculus involuntary muscle|involuntary muscle of ventriculus|non-striated muscle of ventriculus|smooth muscle of ventriculus|non-striated muscle of stomach|gastric muscle|ventriculus smooth muscle|smooth muscle of stomach|stomach involuntary muscle|stomach muscle|gastric smooth muscle EMAPA:35823|BTO:0001818|MA:0001627 uberon owl:Class UBERON:0005382 biolink:NamedThing dorsal striatum Dorsal components of the striatum comprising the caudate nucleus and the putamen, in species that have distinct nuclei; the caudoputamen in species which don't. tmpxe7fu0cj_hp_relaxed.owl striatum dorsal region|striatum dorsale|dorsal basal ganglion|corpus striatum|striated body|caudoputamen|dorsal basal ganglia PBA:10081|BAMS:STRd|BAMS:StrD|FMA:77620|BAMS:Dorsal_striatum|BTO:0004701|MBA:485|MA:0002971|EMAPA:36575|NLXANAT:1010001 uberon owl:Class The term dorsal striatum refers to a composite structure of the endbrain that is defined in the striatopallidal system by connectivity and neurochemical staining. It includes most of the striatum ( Heimer-1995 ). The boundary between this structure and the ventral striatum is indistinct in sections stained for Nissl substance.|It may also refer to the putamen and caudate collectively.|According to BrainInfo it is a part of the basal ganglia comprising the globus pallidus and striatum|It may also refer to both the basal ganglia and the internal capsule collectively.|According to the 1917 version of Gray's Anatomy, it is the combination of the lentiform nucleus (putamen and the globus pallidus) and the caudate nucleus UBERON:0004823 biolink:NamedThing intrahepatic bile duct epithelium An epithelium that is part of a intrahepatic bile duct [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl intrahepatic bile duct epithelial tissue|epithelial tissue of intrahepatic bile duct|epithelium of intrahepatic bile duct NCIT:C43617|MA:0002662|EHDAA2:0000743|UMLS:C1708552|EHDAA:3053 uberon owl:Class UBERON:0003704 biolink:NamedThing intrahepatic bile duct Passages within the liver for the conveyance of bile. Includes right and left hepatic ducts even though these may join outside the liver to form the common hepatic duct. tmpxe7fu0cj_hp_relaxed.owl intrahepatic biliary system|bile duct intrahepatic part MA:0001630|FMA:15766|TAO:0005169|MESH:D001653|ZFA:0005169|NCIT:C12677|UMLS:C0005401|GAID:287 includes the hepatic duct of the caudate lobe, and the intra- and inter- lobar bile ducts uberon owl:Class Duct that collects bile from the bile ductules and connects to the extrahepatic bile duct.[TAO] UBERON:0013769 biolink:NamedThing uterine lumen An organ cavity that is part of a uterus. tmpxe7fu0cj_hp_relaxed.owl cavity of uterus|uterine cavity|uterine space FMA:17745|EMAPA:36273 uberon owl:Class Ndccb89e049f94b60b25751b24641e794 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nab1cfe1a33874c798b98d2aee2a8fef4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003484 biolink:NamedThing eye sebaceous gland A sebaceous gland that is part of a camera-type eye. Example: a tarsal gland. tmpxe7fu0cj_hp_relaxed.owl vertebrate eye sebaceous gland|sebaceous gland of camera-type eye|camera-type eye sebaceous gland|sebaceous gland of vertebrate eye EMAPA:37531|MA:0002452 uberon owl:Class HP:0000141 biolink:NamedThing Amenorrhea Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. tmpxe7fu0cj_hp_relaxed.owl Abnormal absence of menstruation UMLS:C2219717 human_phenotype owl:Class Ndf07742168d94348a8193a32821ef687 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003884 biolink:NamedThing Triangular humerus tmpxe7fu0cj_hp_relaxed.owl Triangular long bone of upper arm UMLS:C4025530 human_phenotype owl:Class N2d58810a90ff4af996c151b7d698876c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000170 biolink:NamedThing pair of lungs The pair of anatomical structures comprised of a left lung and right lung. tmpxe7fu0cj_hp_relaxed.owl pulmones|set of lungs|lungs pair|lungs FMA:68877|OpenCyc:Mx4rvVjKy5wpEbGdrcN5Y29ycA uberon owl:Class HP:0011662 biolink:NamedThing Tricuspid atresia Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle. tmpxe7fu0cj_hp_relaxed.owl Tricuspid valve atresia Fyler:0400|MSH:D018785|SNOMEDCT_US:63042009|ICD-10:Q22.4|UMLS:C0243002|Fyler:400|EPCC:06.01.01|SNOMEDCT_US:253455004 peter 2012-04-09T10:45:29Z human_phenotype owl:Class Nc319271ad9094c069de5c5b939f48e4c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015458 biolink:NamedThing mediastinal fat pad A fat pad that is part of a mediastinum. tmpxe7fu0cj_hp_relaxed.owl MA:0003063 uberon owl:Class UBERON:0003728 biolink:NamedThing mediastinum The central part of the thoracic cavity enclosed by the left and right pleurae. tmpxe7fu0cj_hp_relaxed.owl mediastinal part of chest OpenCyc:Mx4rv2OKJ5wpEbGdrcN5Y29ycA|UMLS:C0025066|NCIT:C12748|MA:0003075|FMA:9826|MESH:A01.911.800.500|EFO:0003057|CALOHA:TS-2338|GAID:94|EMAPA:36001 http://upload.wikimedia.org/wikipedia/commons/a/ab/Mediastinum.png uberon owl:Class mediastinal HP:0004742 biolink:NamedThing Abnormal renal collecting system morphology An abnormality of the renal collecting system. tmpxe7fu0cj_hp_relaxed.owl Abnormal collecting system|Renal collecting system anomalies|Abnormality of the renal collecting system UMLS:C1851303 HP:0004731 human_phenotype owl:Class Ndb4209e640ad43cf91e5f8d69fac7584 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000782 biolink:NamedThing myeloid dendritic cell A dendritic cell of the myeloid lineage. tmpxe7fu0cj_hp_relaxed.owl veiled cell|mDC|interdigitating cell|CD11c+CD123- DC BTO:0004721 These cells are CD1a-negative, CD1b-positive, CD11a-positive, CD11c-positive, CD13-positive, CD14-negative, CD20-negative, CD21-negative, CD33-positive, CD40-negative, CD50-positive, CD54-positive, CD58-positive, CD68-negative, CD80-negative, CD83-negative, CD85j-positive, CD86-positive, CD89-negative, CD95-positive, CD120a-negative, CD120b-positive, CD123-negative, CD178-negative, CD206-negative, CD207-negative, CD209-negative, and TNF-alpha-negative. Upon TLR stimulation, they are capable of producing high levels of TNF-alpha, IL-6, CXCL8 (IL-8). cell owl:Class Nf20ba401858d4514966e32a468d93022 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0001957 biolink:NamedThing intramembranous ossification Direct ossification that occurs within mesenchyme or an accumulation of relatively unspecialized cells. tmpxe7fu0cj_hp_relaxed.owl intramembranous bone ossification|dermal ossification Wikipedia:Intramembranous_ossification An instance of intramembranous ossification may also be classified as metaplastic; the former classifies based on tissue type location, and the latter based on mechanism/cell division. biological_process owl:Class Nb61ff4095cdf40e6828c5a97a4e3704a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005030 biolink:NamedThing mucosa of paranasal sinus A mucosa that adjacent_to a paranasal sinus. tmpxe7fu0cj_hp_relaxed.owl paranasal sinus mucosa FMA:59772 uberon owl:Class Ncd1c180201e64468b390222de0ba2aa1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011747 biolink:NamedThing Abnormality of the anterior pituitary An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. tmpxe7fu0cj_hp_relaxed.owl Pituitary disease UMLS:C0032002|MSH:D010900|SNOMEDCT_US:399244003|UMLS:C4023206 peter 2012-04-22T11:17:00Z human_phenotype owl:Class Ncadd3e7523f84ecbbc9698fa2cf0129a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500152 biolink:NamedThing Hypocystinemia A decreased amount of cystine in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood cystine levels|Decreased blood cystine concentration 2018-10-04 14:59:36+00:00 owl:Class Naa7a1bec70864429b69da383c549bb9a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N85070c08c75549198e341907ca47066a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc665f5c18b854dcfab52cfffec33ca77 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:2000673 biolink:NamedThing positive regulation of motor neuron apoptotic process Any process that activates or increases the frequency, rate or extent of motor neuron apoptotic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of motor neuron apoptosis|positive regulation of motoneuron apoptosis pr 2011-05-09T10:56:24Z biological_process owl:Class GO:0097049 biolink:NamedThing motor neuron apoptotic process Any apoptotic process in a motor neuron, an efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes movement. tmpxe7fu0cj_hp_relaxed.owl motoneuron apoptosis|motor neuron apoptosis pr 2011-05-04T02:21:43Z biological_process owl:Class N95c184db120b4575968499ba5764cd7e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004366 biolink:NamedThing Abnormality of glycolysis An abnormality of glycolysis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025334 peter 2008-03-17T05:00:00Z human_phenotype owl:Class N02258f0f8bc04e4da56f3742a248c0d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0001777 biolink:NamedThing T cell homeostatic proliferation The non-specific expansion of T cell populations within a whole or part of an organism to reach to a total number of T cells which will then remain stable over time in the absence of an external stimulus. tmpxe7fu0cj_hp_relaxed.owl T-cell homeostatic proliferation|T-lymphocyte homeostatic proliferation|resting T cell proliferation|T lymphocyte homeostatic proliferation|resting T-cell proliferation biological_process owl:Class CHEBI:59132 biolink:NamedThing antigen Any substance that stimulates an immune response in the body, such as through antibody production or by presentation to a T-cell receptor after binding to a major histocompability complex (MHC). tmpxe7fu0cj_hp_relaxed.owl antigens chebi_ontology owl:Class N9a44bf2fdc5040d688760248cdf7d432 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8a3c0bcbdae84e8e8fe2fe38b8efeb67 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001750 biolink:NamedThing lacrimal apparatus A network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta. tmpxe7fu0cj_hp_relaxed.owl apparatus lacrimalis|lacrymal system|lacrimal drainage system|nasolacrimal drainage system|nasolacrimal system FMA:55605|UMLS:C0022903|NCIT:C32905|MA:0000274|GAID:901|MESH:D007765|EMAPA:35462 http://upload.wikimedia.org/wikipedia/commons/c/cf/Gray896.png TODO - resolve canaliculus vs tear duct vs lacrimal vs nasolacrimal uberon owl:Class this is an eye appendage in ncit, along with eyelid and eyebrow. in MA, part of eye surface part_of eye GO:0061156 biolink:NamedThing pulmonary artery morphogenesis The process in which the anatomical structures of the pulmonary artery are generated and organized. The pulmonary artery is the artery that carries blood from the heart to the lungs. tmpxe7fu0cj_hp_relaxed.owl dph 2010-06-15T09:13:47Z biological_process owl:Class UBERON:0002012 biolink:NamedThing pulmonary artery An artery that carries deoxygenated blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood.. tmpxe7fu0cj_hp_relaxed.owl pulmonary arterial tree|pulmonary arterial tree organ part|pulmonary arterial subtree|truncus pulmonalis|arteria pulmonalis EFO:0001399|UMLS:C0034052|NCIT:C12774|MA:0002031|XAO:0004162|CALOHA:TS-0839|MESH:D011651|galen:PulmonaryArtery|GAID:505|EHDAA:4351|FMA:66326|SCTID:181380003|EHDAA2:0001575|BTO:0000778|Wikipedia:Pulmonary_artery|VHOG:0000982|AAO:0010221|EMAPA:17008|OpenCyc:Mx4rvVjbIpwpEbGdrcN5Y29ycA Alveoli:diagram.png uberon owl:Class One of two arteries, leaving from the heart, the left one supplying the left lung and the right one supplying the right lung. [TFD][VHOG]|Major artery which supplies blood to the lungs.[AAO] On the other hand, in the sister clade of the actinopterygians, the sarcopterygians, the gill circulation is supplemented with lung ventilation. As a result, the pulmonary artery and vein and a functional ductus arteriosus arose as a major evolutionary innovation from the sixth arch, giving the organism a flexible shunt to balance blood supply to and from gills and lungs according to environmental conditions.[well established][VHOG] In the human heart, the pulmonary trunk (pulmonary artery or main pulmonary artery) begins at the base of the right ventricle. It is short and wide - approximately 5 cm (2 inches) in length and 3 cm (1.2 inches) in diameter. It then branches into two pulmonary arteries (left and right), which deliver deoxygenated blood to the corresponding lung[WP] UBERON:0005196 biolink:NamedThing spleen germinal center A germinal center that is part of the spleen. The spleen germinal center is located in a secondary B follicle in the white pulp of the spleen. tmpxe7fu0cj_hp_relaxed.owl spleen GC|splenic germinal center|germinal center of spleen|spleen follicle center UMLS:C1710156|EMAPA:35803|MA:0000764|NCIT:C49760 uberon owl:Class UBERON:0004177 biolink:NamedThing hemopoietic organ Organ that is part of the hematopoietic system. tmpxe7fu0cj_hp_relaxed.owl hematopoeitic or lymphoid organ|lymphoid organ|organ of haematological system|hematopoietic system organ|organ of hematopoietic system|haemopoietic system organ|lymph organ|haematological system organ|organa haemopoietica organ|hematopoeitic organ|organ of haemopoietic system|organ of organa haemopoietica MA:0000747|FMA:7143|BTO:0004605|SCTID:361338006|EMAPA:37665 consider splitting out lymph organ, compare with lymph node uberon owl:Class the organs in which the formed elements of the blood and lymph are produced[http://encyclopedia2.thefreedictionary.com/Hematopoietic+Organs]. the FMA class 'lymphoid organ' is a general anatomical term UBERON:0002390 biolink:NamedThing hematopoietic system Anatomical system that is involved in the production of hematopoietic cells. tmpxe7fu0cj_hp_relaxed.owl Blutbildungssystem|organa haemopoietica|hematolymphoid system|hemopoietic system|haematopoietic system|hematological system|haematological system|haemopoietic system EMAPA:35402|NCIT:C12909|XAO:0000122|MESH:D006413|CALOHA:TS-0449|FMA:9667|MIAA:0000022|Wikipedia:Haematopoiesis|ZFA:0005023|VHOG:0001624|SCTID:362587009|AAO:0011002|TAO:0005023|EV:0100045|EFO:0000798|GAID:1008|MAT:0000022|UMLS:C0018957|MA:0002434|BTO:0000570 uberon owl:Class Anatomical system that consists of the blood and blood forming tissues.[AAO] Zebrafish developmental hematopoiesis shows close correspondence to the development of the mammalian hematopoietic system and is regulated by conserved molecular pathways.[well established][VHOG] hematopoietic In humans this is primarily the bone marrow, spleen, tonsils, and lymph nodes UBERON:0012482 biolink:NamedThing submucosa of cloaca A submucosa that is part of a cloaca [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl cloacal submucosa|cloaca submucosa uberon owl:Class N4cd8e3e11979470db986f3a6f038fc3e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011278 biolink:NamedThing nail of pedal digit 1 A nail that is part of a pedal digit 1. tmpxe7fu0cj_hp_relaxed.owl nail of big toe|big toe nail|nail plate of big toe|claw of digit 1 of hind-paw|nail of great toe|nail of pedal digit I|nail of first toe FMA:54344|EMAPA:18739 uberon owl:Class UBERON:0003631 biolink:NamedThing pedal digit 1 1st digit of the hind autopod. tmpxe7fu0cj_hp_relaxed.owl pedal digit 1|pedal digit I|hind digit 1|pes digit I|large toe|hallex|foot digit 1|digitus primus pedis|first toe|big toe|hind digit I|digitus primus (I) pedis|preaxial digit of hindlimb|hallux; digitus primus [I]|hallux|hindlimb dewclaw|toe 1|hind limb digit 1|digit 1 of pes|digit 1 of hind-paw|great toe FMA:25047|EHDAA2:0002037|BTO:0002349|EMAPA:17460|AAO:0010644|MESH:D006214|UMLS:C1708079|MA:0000465|VSAO:0000201|GAID:45|NCIT:C52839 http://upload.wikimedia.org/wikipedia/commons/a/ab/RightFootToes.jpg uberon owl:Class UBERON:0004398 biolink:NamedThing epiphysis of fourth metatarsal bone An epiphysis that is part of a metatarsal bone of digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl metatarsal 4 epiphysis|fourth metatarsal bone epiphysis FMA:86314 uberon owl:Class UBERON:0003653 biolink:NamedThing metatarsal bone of digit 4 A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 4. tmpxe7fu0cj_hp_relaxed.owl fourth metatarsal bone|hindlimb digit 4 metatarsus|toe 4 metatarsal|foot digit 4 metatarsal bone|metatarsal bone digit 4|metatarsal 4|metatarsal bone of digit IV|toe 4 metatarsus|metatarsal bone of foot digit 4|metatarsal IV NCIT:C52788|EMAPA:19129|MA:0001372|UMLS:C1709002|AAO:0000928|FMA:24505 uberon owl:Class The fourth metatarsal bone is smaller in size than the third; its base presents an oblique quadrilateral surface for articulation with the cuboid; a smooth facet on the medial side, divided by a ridge into an anterior portion for articulation with the third metatarsal, and a posterior portion for articulation with the third cuneiform; on the lateral side a single facet, for articulation with the fifth metatarsal[Wikipedia:Fourth_metatarsal_bone].|Dumb-bell-shaped bone of endochondral origin with cartilaginous epiphyses that articulates with tarsal 4 or the distal head of the tibiale-fibulare proximally and with the proximal phalanx of digit IV distally.[AAO] 4 UBERON:0009767 biolink:NamedThing proximal interphalangeal joint An inter-phalangeal joint that connects a proximal phalanx to either a medial or distal phalanx. tmpxe7fu0cj_hp_relaxed.owl PIJ joint|PIP joint FMA:65022|NCIT:C101528 uberon owl:Class Nb2640f42073b481dbbae8b46e1a5b86a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004031 biolink:NamedThing Broad radial diaphysis Increase in width of the diaphysis of radius. tmpxe7fu0cj_hp_relaxed.owl Wide radial diaphysis UMLS:C4021690 Increased diameter of the shaft (diaphysis) of the radius. human_phenotype owl:Class N6399ec85b6f84c449ce78f371a11c675 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne45df00b869042e2800b48e5c636b74b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002437 biolink:NamedThing mature CD8 single-positive thymocyte A mature CD8-positive, CD4-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor. tmpxe7fu0cj_hp_relaxed.owl T.8SP24-.Th tmeehan 2010-10-21T03:51:50Z cell owl:Class GO:0070255 biolink:NamedThing regulation of mucus secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:3010200 biolink:NamedThing vasculature of respiratory integument Blood vessels in respiratory skin. tmpxe7fu0cj_hp_relaxed.owl amphibian_anatomy_curators Modified from the original AAO source uberon owl:Class UBERON:0003120 biolink:NamedThing pharyngeal arch artery 3 The vessels formed within the third pair of branchial arches in embryogenesis. tmpxe7fu0cj_hp_relaxed.owl 3rd arch artery|third aortic arch|3rd branchial arch artery|carotid arch|third branchial arch artery|AA3|aortic arch 3|3rd aortic arch artery|3rd pharyngeal arch artery ZFA:0005007|VHOG:0000147|SCTID:308776001|EMAPA:16687|TAO:0005007|EHDAA2:0000070|AAO:0010419|Wikipedia:Aortic_arches#Arch_3|XAO:0000344 UBERON:0004352 uberon owl:Class The third aortic arch constitutes the commencement of the internal carotid artery, and is therefore named the carotid arch[WP][Wikipedia:Aortic_arches#Arch_3].|Aortic arches 3 and 4 are not remodeled but are retained largely intact as the branchial arteries providing circulation through the gills. These areches are direct branches from the ventral aorta to the lateral dorsal aorta. Isogai et al. 2001.[TAO]|The third in a series paired arterial connections between the dorsal and ventral aortae. Aortic arch 3 lies within the 3rd branchial arch and branches directly from the ventral aorta to the lateral dorsal aorta, and are retained as the branchial arteries providing circulation through the gills in the adult.[AAO] UBERON:0003114 biolink:NamedThing pharyngeal arch 3 The third branchial arch contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus. tmpxe7fu0cj_hp_relaxed.owl third visceral arch|third pharyngeal arch|visceral arch 3|3rd pharyngeal arch|branchial arch 1|first branchial arch|3rd visceral arch|first gill arch|gill arch 1|3rd arch ZFA:0001606|AAO:0010365|EHDAA2:0000069|FMA:293029|XAO:0000447|SCTID:308769006|EMAPA:16399|EHDAA:1080|TAO:0001598|VHOG:0000298 uberon owl:Class The most anterior, or first, pharygeal/branchial arch, composed of the mandibular process, forming the posterior border of the stomodeum, and the maxillary process anterior to the stomodeum, contains the first aortic arch.[AAO] A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] in XAO, called branchial arch 1 and df VP3 3 UBERON:0001591 biolink:NamedThing thymic vein A vein that drains blood from the thymus. tmpxe7fu0cj_hp_relaxed.owl vena thymica|venae thymicae|thymic tributary of brachiocephalic vein UMLS:C0226698|NCIT:C53143|FMA:4747|EMAPA:36325|MA:0002246 uberon owl:Class HP:0100015 biolink:NamedThing Stahl ear The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix. tmpxe7fu0cj_hp_relaxed.owl Additional crus|Third crus UMLS:C1862689|SNOMEDCT_US:253252004 The helix is often poorly formed. Four types have been recognized in the surgical literature [Yamada and Fukuda, 1980]. doelkens 2010-05-25T10:30:14Z human_phenotype owl:Class Nc46bd331df4745acb38ac82b2de54b2c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009139 biolink:NamedThing right posterior cardinal vein A posterior cardinal vein that is in_the_right_side_of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl right postcardinal vein|posterior cardinal vein right EHDAA2:0004536|FMA:70315 UBERON:0013123 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0002410 biolink:NamedThing autonomic nervous system The autonomic nervous system is composed of neurons that are not under conscious control, and is comprised of two antagonistic components, the sympathetic and parasympathetic nervous systems. The autonomic nervous system regulates key functions including the activity of the cardiac (heart) muscle, smooth muscles (e.g. of the gut), and glands[GO]. tmpxe7fu0cj_hp_relaxed.owl divisio autonomica systematis nervosi peripherici|pars autonomica systematis nervosi peripherici|autonomic division of peripheral nervous system|visceral nervous system|autonomic part of peripheral nervous system|peripheral autonomic nervous system|ANS VHOG:0000396|SCTID:362481007|CALOHA:TS-2001|EHDA:10095|GAID:706|AAO:0000033|MESH:D001341|Wikipedia:Autonomic_nervous_system|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2054|TAO:0001574|EHDAA2:0000158|EHDAA:3767|MA:0000219|ZFA:0001574|BTO:0002507|BIRNLEX:1123|EMAPA:16984|UMLS:C1305381|NCIT:C12673|UMLS:C0004388|FMA:65553 http://upload.wikimedia.org/wikipedia/commons/f/f7/Gray839.png uberon owl:Class Nervous system including a portion of the central and peripheral systems and presiding over the control and coordination of the vegetative functions of the organism. It innervates smooth and cardiac muscles and glandular tissues and is responsible for many actions which are more or less automatic (e.g. secretion, vasoconstriction etc.). It consists of the sympathetic and parasympathetic nervous systems. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]|Part of the peripheral nervous system which regulates involuntary functions of the body and consists of the sympathetic and parasympathetic system.[AAO] From comparative analyses of craniate brains, a morphotype of the brain in the earliest craniate stock can be constructed. In marked contrast to cephalochordates, the ancestral craniate morphotype had a plethora of unique features, which included a telencephalon with pallial and subpallial parts, paired olfactory bulbs with substantial projections to most or all of the telencephalic pallium, paired lateral eyes and ears, a lateral line system for both electroreception and mechanoreception, spinal cord dorsal root ganglia, and an autonomic nervous system.[well established][VHOG] FMA splits this into peripheral and nervous parts; GO has ANS directly under NS; PNS is a sib UBERON:0004269 biolink:NamedThing upper arm connective tissue A portion of connective tissue that is part of a forelimb stylopod [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37317|MA:0000605 uberon owl:Class Nb8d4c98ba84f4a048613ce575ee7f444 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001761 biolink:NamedThing Pes cavus The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight. tmpxe7fu0cj_hp_relaxed.owl High-arched foot SNOMEDCT_US:205091006|MEDDRA:10034743|UMLS:C0728829 human_phenotype owl:Class Ndb69e534590f48f3bbd60553056dd2a9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009213 biolink:NamedThing pharyngeal membrane of 1st arch A pharyngeal membrane that separates the first pharyngeal cleft from the first pharyngeal pouch. tmpxe7fu0cj_hp_relaxed.owl tympanic membrane primordium|future tympanic membrane|1st pharyngeal membrane|1st branchial membrane EMAPA:17281|EHDAA:3788|EMAPA:16992|EMAPA:16121|VHOG:0001427 check EMAPA - 3 terms appear to match. We follow EMAPA in making each membrane part of the arch with the same number, though in fact it is between these arches uberon owl:Class N5ed694447da84ceba491edfc25cfe5ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013526 biolink:NamedThing otocyst lumen An anatomical cavity that is part of a ear vesicle. tmpxe7fu0cj_hp_relaxed.owl lumen of otocyst EMAPA:25363|EHDAA2:0004121 uberon owl:Class UBERON:0006273 biolink:NamedThing otic pit The pair of depressions of thickened otic placode epithelium, that further develops into the otic vesicles. tmpxe7fu0cj_hp_relaxed.owl otic cup NCIT:C34238|EMAPA:16536|EHDAA:929|VHOG:0001147|EHDAA2:0001336|FMA:302911 UBERON:0009123 uberon owl:Class A depression appearing in each otic placode, marking the beginnning of embryonic development of the internal ear. [TFD][VHOG] UBERON:0016545 biolink:NamedThing pharyngeal ectoderm The external part of the developing pharynx that is made of ectoderm. During vertebrate development, pockets form in pharyngeal ectoderm between the pharyngeal arches. tmpxe7fu0cj_hp_relaxed.owl TAO:0001379|ZFA:0001379 UBERON:2001379 uberon owl:Class UBERON:0002105 biolink:NamedThing vestibulo-auditory system Sensory system responsible for the perception of spatial orientation and auditory stimuli. tmpxe7fu0cj_hp_relaxed.owl auditory system|auditory organ system|vestibuloauditory system|auditory/vestibular system EMAPA:36002|XAO:0003195|EMAPA:37985|AAO:0000631|TAO:0001138|FMA:78500|ZFA:0001138 http://upload.wikimedia.org/wikipedia/commons/d/d2/Anatomy_of_the_Human_Ear.svg uberon owl:Class The sensory system used for balance and hearing.[AAO] HP:0003635 biolink:NamedThing Loss of subcutaneous adipose tissue in limbs Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. tmpxe7fu0cj_hp_relaxed.owl Loss of subcutaneous adipose tissue from extremities|Loss of fat tissue below the skin in limbs UMLS:C1837764 HP:0003757 human_phenotype owl:Class N8751cebed6424887bca5de9318b79e1e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009889 biolink:NamedThing secondary heart field A specific region of the lateral mesoderm that will form the majority of the mesodermal component of the right ventricle, arterial pole (outflow tract) and venous pole (inflow tract). tmpxe7fu0cj_hp_relaxed.owl second heart field|SHF|anterior heart field|anterior/second heart field XAO:0004186 uberon owl:Class extra-cardiac population of mesodermal progenitors that gives rise to the right ventricle and outflow tract[PMID:17276708]. In general, the two studies in chick concluded that the contribution of the SHF was to the outflow tract, whereas the mouse work suggested that the second lineage contributed more broadly to the heart, including the outflow tract and much or all of the right ventricle [11-14]. These different conclusions may represent differences in the experimental approaches used or may represent bona fide differences in the contribution of the second lineage to the hearts of birds compared to mammals [11]. Alternatively, the secondary/anterior heart fields described in the chick may represent a subset of a broader field that makes a more substantial contribution to the heart, as the mouse studies suggested in mouse has left ventricular identity[PMID:22855565] CHEBI:305790 biolink:NamedThing thyroxine zwitterion The amino acid zwitterion formed from thyroxine by transfer of a proton from the carboxy group to the amino group. Major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl thyroxine|(2S)-2-azaniumyl-3-[4-(4-hydroxy-3,5-diiodophenoxy)-3,5-diiodophenyl]propanoate|2-Amino-3-[4-(4-hydroxy-3,5-diiodo-phenoxy)-3,5-diiodo-phenyl]-propionate 0 C15H11I4NO4 InChI=1S/C15H11I4NO4/c16-8-4-7(5-9(17)13(8)21)24-14-10(18)1-6(2-11(14)19)3-12(20)15(22)23/h1-2,4-5,12,21H,3,20H2,(H,22,23) XUIIKFGFIJCVMT-UHFFFAOYSA-N 776.87000 776.68669 [NH3+]C(Cc1cc(I)c(Oc2cc(I)c(O)c(I)c2)c(I)c1)C([O-])=O chebi_ontology owl:Class UBERON:0005872 biolink:NamedThing 1st arch pharyngeal cleft A groove that is situated between the 1st and 2nd pharyngeal arch. tmpxe7fu0cj_hp_relaxed.owl branchial groove of 1st arch|1st arch branchial groove|1st arch groove ectoderm|1st pharyngeal groove|1st pharyngeal groove ectoderm|1st branchial cleft|1st pharyngeal cleft EMAPA:16119|EHDAA2:0000009|EHDAA:575|VHOG:0000969|VHOG:0000554 uberon owl:Class In all jawed vertebrates the first arch forms the jaw, while the second arch forms the hyoid apparatus. These two arches are separated by the first pharyngeal pouch and cleft.[well established][VHOG] N489263ef0c0e4daf9fe17704042e9bf3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010461 biolink:NamedThing Abnormality of the male genitalia Abnormality of the male genital system. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the male genitalia|Abnormal male genitals UMLS:C4023819 peter 2009-09-15T08:33:20Z owl:Class Ne0c9216fd5b04629a1ef2456e90c8f31 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006073 biolink:NamedThing thoracic region of vertebral column That part of the spine comprising the thoracic vertebrae. tmpxe7fu0cj_hp_relaxed.owl columna vertebralis thoracicus|thoracic vertebrae series|thoracic spine|thoracic vertebral column|axial skeleton thoracic region EHDAA:5063|FMA:9140|UMLS:C0581269|NCIT:C69315|MA:0003155|BTO:0004150|EMAPA:17396|AAO:0000612 uberon owl:Class Region of the vertebral column between the atlas and the sacrum consisting of seven to 285 vertebrae.[AAO] GO:0031109 biolink:NamedThing microtubule polymerization or depolymerization Assembly or disassembly of microtubules by the addition or removal of tubulin heterodimers from a microtubule. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:59876 biolink:NamedThing N-acyl-D-alpha-amino acid anion The conjugate base of an N-acyl-D-alpha-amino acid arising from deprotonation of the C-1 carboxy group. tmpxe7fu0cj_hp_relaxed.owl an N-acyl-D-amino acid|N-acyl-D-alpha-amino acid(1-) -1 C3H2NO3R2 100.05290 100.00347 [O-]C(=O)[C@@H]([*])NC([*])=O chebi_ontology owl:Class N7a55c38cec9b4e738a0a31a5f87249c2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0016522 biolink:NamedThing cavity of right atrium Luminal space of the right atrium of the heart. tmpxe7fu0cj_hp_relaxed.owl right atrial cavity FMA:11359|EMAPA:26020 uberon owl:Class UBERON:0002078 biolink:NamedThing right cardiac atrium A cardiac atrium that is in the left side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve. tmpxe7fu0cj_hp_relaxed.owl cardiac right atrium|right atrium of heart|heart right atrium|right atrium|right cardiac atrium|atrium dextrum SCTID:244383003|EMAPA:17321|FMA:7096|Wikipedia:Right_atrium|EHDAA2:0000290|NCIT:C12868|AAO:0010248|UMLS:C0225844|XAO:0003192|OpenCyc:Mx4runNcs6fqEdudWQACs5b6Bw|VHOG:0000328|galen:RightAtrium|MA:0000075|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rDJ89oqgPEdudWQACs5b6Bw|BTO:0001703 http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg uberon owl:Class Right cardiac chamber which is continuous with the superior vena cava and inferior vena cava.[FMA] The tetrapod clade develops a complete atrial septum and loses the fifth aortic arch altogether.[well established][VHOG] https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern HP:0009937 biolink:NamedThing Facial hirsutism Excess facial hair. tmpxe7fu0cj_hp_relaxed.owl Excessive face hair UMLS:C2128203|UMLS:C1850041 peter 2009-05-10T10:58:49Z human_phenotype owl:Class N97d9987802f44dd8820f424011f35792 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005282 biolink:NamedThing ventricular system of brain tmpxe7fu0cj_hp_relaxed.owl brain ventricular system EMAPA:37447|VHOG:0000005|FMA:242787|CALOHA:TS-1295 uberon owl:Class The early development of most vertebrate brains is similar (...). The zebrafish neural tube follows the same basic differentiation pattern as the mammalian neural tube (reference 1); The brain develops from three embryonic enlargements of the neural tube, which later differentiate into five regions. A forebrain differentiates into telencephalon and diencephalon. The midbrain, or mesencephalon, remains undivided. The hindbrain divides into the metencephalon and myelencephalon. Cavities within the brain enlarge to form a series of interconnected ventricles (reference 2).[well established][VHOG] HP:0010667 biolink:NamedThing Aplasia of the maxilla A congenital defect characterized by absence of the Maxilla. tmpxe7fu0cj_hp_relaxed.owl Failure of development of maxilla|Absence of the maxilla|Failure of development of upper jaw bones|Agenesis of the maxilla|Absence of upper jaw bones|Missing upper jaw bones|Aplasia of the upper jaw bones UMLS:C4280371|UMLS:C4023750 peter 2010-02-26T08:11:45Z human_phenotype owl:Class Nd1b1e425802e4b98a967f188ad634636 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004208 biolink:NamedThing nephrogenic mesenchyme Nephrogenic mesenchyme is the tissue made up of loosely connected mesenchymal cells in the nephron. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of nephron|nephron mesenchyme The detailed events associated with the differentiation of the nephrogenic mesenchyme are somewhat complex. It has been suggested that each terminal branch of the ureteric bud stimulates the associated cap mesenchyme tissue to form a renal vesicle (the most primitive stage of nephron development: a stage I nephron). This then elongates, becomes a comma-shaped and then an S-shaped body (stage II nephron), and makes contact with and fuses with the distal component of the ureteric bud. The latter then forms the collecting duct. One fold of the S-shaped body gives rise to Bowman's capsule (also termed the glomerular capsule). Soon afterwards, endothelial cells invade to make a capillary knot-like outgrowth, the glomerular tuft, which goes on to form the glomerulus. The inner epithelial layer of the Bowman's capsule (also called the visceral epithelium, or podocyte layer because it consists of podocytes) is closely apposed to the endothelial glomerulus. Together, the Bowman's capsule and the glomerulus comprise the definitive renal corpuscle. The rest of the nephron elongates to form components of the proximal tubule, the loop of Henle and the distal tubule. The distal pole of the developing nephron connects to the ureteric bud that induced it at an early stage of nephron/ collecting duct development, before differentiation of the proximal tubule, the loop of Henle and the distal tubule are complete. This connection allows the excretory products produced by the kidney to be removed and subsequently transferred, via the ureter, into the bladder where they are stored until it is appropriate to empty the bladder. [http://www.gudmap.org/About/Tutorial/DevMUS.html#DMK_Nephron] uberon owl:Class HP:0003890 biolink:NamedThing Prominent deltoid tuberosities tmpxe7fu0cj_hp_relaxed.owl UMLS:C2674600 human_phenotype owl:Class Nf234a88b2daf4c90bcd659ac95196d87 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015104 biolink:NamedThing distal tarsal bone 1 pre-cartilage condensation A distal tarsal bone 1 endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0014024 biolink:NamedThing neural rod cavitation The process of rod cavitation, which is the formation of a lumen in the neural rod during primary neurulation, producing the neural tube. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0003842 biolink:NamedThing neural tube lumen An anatomical space that surrounded_by a neural tube. tmpxe7fu0cj_hp_relaxed.owl neurocoel|neural lumen|prosencoel|lumen of neural tube|cavity of neural tube|neural tube neural lumen|central lumen EHDAA2:0001269|EMAPA:16167|EHDAA:914|EHDAA:2889|VHOG:0001119|AAO:0011073|XAO:0000252 UBERON:0005713 uberon owl:Class (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...).[well established][VHOG] HP:0012862 biolink:NamedThing Abnormal germ cell morphology Any structural anomaly of a reproductive cell. tmpxe7fu0cj_hp_relaxed.owl Abnormally shaped reproductive cell|Abnormally shaped germ cell|Abnormal shape of a reproductive cell UMLS:C4022704 hecht 2014-06-09T10:01:49Z human_phenotype owl:Class N83efedbf4a7b4bfd907ceb6310be3096 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1904019 biolink:NamedThing epithelial cell apoptotic process Any apoptotic process in an epithelial cell. tmpxe7fu0cj_hp_relaxed.owl epithelial cell apoptosis|epitheliocyte apoptosis|epitheliocyte apoptotic process sl 2015-03-06T22:27:17Z biological_process owl:Class GO:0043504 biolink:NamedThing mitochondrial DNA repair The process of restoring mitochondrial DNA after damage. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0005739 biolink:NamedThing mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. tmpxe7fu0cj_hp_relaxed.owl mitochondria Wikipedia:Mitochondrion|NIF_Subcellular:sao1860313010 Some anaerobic or microaerophilic organisms (e.g. Entamoeba histolytica, Giardia intestinalis and several Microsporidia species) do not have mitochondria, and contain mitochondrion-related organelles (MROs) instead, called mitosomes or hydrogenosomes, very likely derived from mitochondria. To annotate gene products located in these mitochondrial relics in species such as Entamoeba histolytica, Giardia intestinalis or others, please use GO:0032047 'mitosome' or GO:0042566 'hydrogenosome'. (See PMID:24316280 for a list of species currently known to contain mitochondrion-related organelles.) cellular_component owl:Class UBERON:0009712 biolink:NamedThing endocardium of right ventricle Any endocardium that is part of the right ventricle of the heart. tmpxe7fu0cj_hp_relaxed.owl right ventricular endocardium|right ventricle endocardial tissue|right ventricle endocardium|endocardial lining of right ventricle EHDAA2:0002188|NCIT:C102343|FMA:9536|VHOG:0001235|SCTID:8911002|EMAPA:17341 uberon owl:Class Endocardium of ventricle which is continuous tricuspid valve, pulmonary valve and with the tunica intima of the pulmonary trunk. UBERON:7500050 biolink:NamedThing line of medial condyle of femur to head of femur An anatomical line of a femur that connects the medial condyle to the head of a femur. tmpxe7fu0cj_hp_relaxed.owl https://orcid.org/0000-0003-2699-3066 uberon owl:Class GO:0044238 biolink:NamedThing primary metabolic process The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. tmpxe7fu0cj_hp_relaxed.owl primary metabolism biological_process owl:Class N402b0bcfb2e846b38465f24226b26d07 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003703 biolink:NamedThing extrahepatic bile duct Passages external to the liver for the conveyance of bile. These include the common bile duct and the common hepatic duct. tmpxe7fu0cj_hp_relaxed.owl extrahepatic biliary system|bile duct extrahepatic part FMA:14678|MESH:D017734|GAID:281|UMLS:C0206187|MA:0002659|NCIT:C32573 includes all the cystic duct, all the common bile duct and the extrahapetic part of the hepatic duct uberon owl:Class GO:0021615 biolink:NamedThing glossopharyngeal nerve morphogenesis The process in which the anatomical structure of the glossopharyngeal nerve is generated and organized. Various sensory and motor branches of the glossopharyngeal nerve supply nerve connections to the pharynx and back of the tongue. The branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion. tmpxe7fu0cj_hp_relaxed.owl CN IX morphogenesis biological_process owl:Class UBERON:0006645 biolink:NamedThing adventitia of epididymis An adventitia that is part of a epididymis. tmpxe7fu0cj_hp_relaxed.owl epididymis adventitia FMA:19136|EMAPA:30443 uberon owl:Class UBERON:0001301 biolink:NamedThing epididymis The elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0014533|MA:0000397|CALOHA:TS-0285|MAT:0000130|NCIT:C12328|VHOG:0001265|EFO:0000982|MIAA:0000130|GAID:397|EMAPA:19290|MESH:A05.360.444.849.286|FMA:18255|galen:Epididymis|BTO:0000408|EV:0100103 http://upload.wikimedia.org/wikipedia/commons/c/c3/Illu_testis_surface.jpg Kardong has epididymis in elasmobranch uberon owl:Class epididymal A similar, but probably non-homologous, structure is found in cartilaginous fishes Typically divided into three main regions. In reptiles, there is an additional canal between the testis and the head of the epididymis, which receives the various efferent ducts. This is, however, absent in all birds and mammals. The epididymis is covered by a two layered pseudostratified epithelium. The epithelium is separated by a basement membrane from the connective tissue wall which has smooth muscle cells. N809cc4b5ce66410dba48baff543c346f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030379 biolink:NamedThing Abnormal proportion of transitional B cells A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal proportion of CD19+CD38+IgM+ cells UMLS:C4072918 owl:Class N640bc17aae98422382bb9f690170b1f2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009294 biolink:NamedThing Absent middle phalanx of 4th finger Absence of the middle phalanx of the ring (4th) finger. tmpxe7fu0cj_hp_relaxed.owl Absent middle bone of 4th finger|Aplasia of the middle phalanx of the 4th finger UMLS:C4021498 doelkens 2009-01-08T04:11:35Z human_phenotype owl:Class Nfce3bbb671a943e5a57bb0cc23f37e56 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0043022 biolink:NamedThing ribosome binding Binding to a ribosome. tmpxe7fu0cj_hp_relaxed.owl ribosome receptor activity GO:0030376 molecular_function owl:Class HP:0410058 biolink:NamedThing Increased level of D-threitol in CSF An increase in the level of D-threitol in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Increased level of D-threitol in cerebrospinal fluid 2018-01-27 02:34:44+00:00 D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans. ORCID:0000-0001-5208-3432 owl:Class N48cc6a02f2464242a0c5b10d7b76c6ca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:15318 biolink:NamedThing xanthine A purine nucleobase found in humans and other organisms. tmpxe7fu0cj_hp_relaxed.owl 2,6-dioxopurine|2,6-dioxopurines|xanthine|xanthines 0 C5H4N4O2 152.111 152.03343 ECMDB:ECMDB00292|PMID:1557408|KNApSAcK:C00019660|PMID:24629268|YMDB:YMDB00263|PMID:9007687 chebi_ontology owl:Class HP:0000553 biolink:NamedThing Abnormal uvea morphology An abnormality of the uvea, the vascular layer of the eyeball. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the uvea UMLS:C4025842 human_phenotype owl:Class N7efacbac28d3491ba1ebf327bc026a81 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0025102 biolink:NamedThing Dysgenesis of the basal ganglia Structural abnormality of the basal ganglia related to defective development. tmpxe7fu0cj_hp_relaxed.owl Basal ganglia dysgenesis 2016-10-28 07:21:20+00:00 Note that the term basal ganglia dysgenesis is generally used to refer to a morphological abnormality of the basal ganglia that is of presumed developmental (rather than acquired) origin. HPO:probinson owl:Class Nb556ffe8d489451eb2b78f9e7eff90ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8435b67c3a534adf9c889b226d204cf5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000065 biolink:NamedThing respiratory tract Anatomical structure that is part of the respiratory system. In mammals consists of upper and lower tracts. tmpxe7fu0cj_hp_relaxed.owl VHOG:0000393|SCTID:361110005|EMAPA:16737|EHDAA:1568|EHDAA2:0001606|OpenCyc:Mx4rvvM--pwpEbGdrcN5Y29ycA|EHDAA:2219|FMA:265130 uberon owl:Class UBERON:0009572 biolink:NamedThing lumen of central canal of spinal cord A cerebrospinal fluid-filled space that runs longitudinally through the length of the entire spinal cord. The central canal is contiguous with the ventricular system of the brain. The central canal represents the adult remainder of the neural tube. tmpxe7fu0cj_hp_relaxed.owl neural lumen|central canal lumen|cavity of central canal of spinal cord|spinal cord lumen EMAPA:25042|FMA:242845 uberon owl:Class GO:0097711 biolink:NamedThing ciliary basal body-plasma membrane docking The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl ciliary basal body docking|anchoring of the basal body to the plasma membrane Reactome:R-HSA-5620912.1 Basal bodies in jawed vertebrates appear to first attach to a ciliary vesicle. It is unclear how specific this is to jawed vertebrates or if other organisms also employ this sequence. Some species like Giardia intestinalis do not relocate their basal bodies to the plasma membrane, but have their axonemes extend through the cytosol to then protrude out of the cell to form flagella. pr 2016-08-05T16:12:33Z biological_process owl:Class UBERON:0005044 biolink:NamedThing mucosa of pharyngotympanic tube A mucosa that is part of a pharyngotympanic tube [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl auditory tube mucosa|internal auditory tube mucosa of organ|mucosa of auditory tube|mucosa of organ of auditory tube|mucosa of organ of pharyngotympanic tube|organ mucosa of auditory tube|tunica mucosa (tuba auditiva)|auditory tube organ mucosa|mucuous membrane of eustachian tube|mucuous membrane of pharyngotympanic tube|internal auditory tube organ mucosa|auditory tube mucosa of organ|mucous membrane of auditory tube|auditory tube mucous membrane|tunica mucosa (tuba auditoria)|pharyngotympanic tube mucosa|pharyngotympanic tube mucous membrane|mucosa of organ of internal auditory tube|pharyngotympanic tube organ mucosa|mucous membrane of pharyngotympanic tube|mucosa of internal auditory tube|internal auditory tube mucous membrane|pharyngotympanic tube mucosa of organ|organ mucosa of pharyngotympanic tube|internal auditory tube mucosa|organ mucosa of internal auditory tube|mucous membrane of internal auditory tube FMA:60109 uberon owl:Class UBERON:0006658 biolink:NamedThing interphalangeal joint A joint that connects one phalanx to another along a proximodistal axis. tmpxe7fu0cj_hp_relaxed.owl inter-phalanx joint|inter-phalangeal joint galen:InterphalangealJoint|FMA:42765|EMAPA:37884|NCIT:C101527 uberon owl:Class Hinge joints between the phalanges of the hand or foot[ncithesaurus:Interphalangeal_Joint]. CHEBI:167114 biolink:NamedThing 2-hydroxydicarboxylate(2-) Any dicarboxylic acid carrying a hydroxy group on the carbon atom at position alpha to the carboxy group. Major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl a 2-hydroxydicarboxylate -2 C3HO5R2 117.037 116.98240 C(C(*C([O-])=O)(O)*)([O-])=O chebi_ontology owl:Class UBERON:0007641 biolink:NamedThing trigeminal nuclear complex The sensory trigeminal nerve nuclei are the largest of the cranial nerve nuclei, and extend through the whole of the midbrain, pons and medulla. There is also a distinct trigeminal motor nucleus that is medial to the chief sensory nucleus[WP]. tmpxe7fu0cj_hp_relaxed.owl trigeminal nuclei|nuclei trigemini HBA:9203|DHBA:266441713|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2021|BM:V|UMLS:C0040999|Wikipedia:Trigeminal_nerve_nuclei|BIRNLEX:4096|CALOHA:TS-2077|FMA:71248 http://upload.wikimedia.org/wikipedia/commons/3/30/Gray696.png uberon owl:Class in MA and FMA this is part of the pons / pontime tegmentum. We weaken this to overlaps to avoid inconsistency. In NIF this is a composite structure spanning multiple regions, which is more appropriate. UBERON:0001651 biolink:NamedThing right pulmonary artery The pulmonary artery that supplies the right lung. tmpxe7fu0cj_hp_relaxed.owl right main pulmonary artery|arteria pulmonalis dextra|right pulmonary arterial tree EMAPA:37378|Wikipedia:Right_pulmonary_artery|SCTID:244235003|galen:RightPulmonaryArtery|MA:0002500|UMLS:C0923924|FMA:50872|NCIT:C33489 Alveoli:diagram.png|http://upload.wikimedia.org/wikipedia/commons/f/f6/Gray504.png TODO - add class 'pulmonary artery tree organ' uberon owl:Class UBERON:0006218 biolink:NamedThing common atrial chamber tmpxe7fu0cj_hp_relaxed.owl EHDAA:1267|EMAPA:16342|RETIRED_EHDAA2:0000268 uberon owl:Class GO:0044207 biolink:NamedThing translation initiation ternary complex A ribonucleoprotein complex that contains aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). tmpxe7fu0cj_hp_relaxed.owl translation initiation (ternary) complex|Met-tRNA/eIF2.GTP ternary complex jl 2009-10-22T02:38:55Z cellular_component owl:Class GO:0042692 biolink:NamedThing muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a muscle cell. tmpxe7fu0cj_hp_relaxed.owl myogenesis biological_process owl:Class UBERON:0006614 biolink:NamedThing aponeurosis A sheet of extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl aponeurotic|aponeuroses ZFA:0005652|EHDAA2:0003092|UMLS:C0225205|AEO:0000092|FMA:9722|NCIT:C32133 http://upload.wikimedia.org/wikipedia/commons/e/e6/Aponeurosis.png uberon owl:Class Aponeuroses are layers of flat broad tendons. They have a shiny, whitish-silvery color, and are histologically similar to tendons, but are very sparingly supplied with blood vessels and nerves. When dissected, aponeuroses are papery, and peel off by sections. The primary regions with thick aponeurosis is in the ventral abdominal region, the dorsal lumbar region, and in the palmar region. Their primary function is to join muscles and the body parts the muscles act upon[Wikipedia:Aponeurosis]. in ZFA, aponeuroses are subtypes of tendons, but this is inconsistent with tendons being muscle-bone connections UBERON:0005956 biolink:NamedThing outflow part of left ventricle Anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta. tmpxe7fu0cj_hp_relaxed.owl aortic vestibule|left ventricular outflow|heart left ventricle outflow tract|LVOT|left ventricular outflow tract|outflow tract of left ventricle|vestibulum aortae|Sibson vestibule SCTID:264070001|EMAPA:37925|Wikipedia:Aortic_vestibule|FMA:9473 uberon owl:Class HP:0100085 biolink:NamedThing Small epiphyses of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Small end part of the pinkie toe bone|Small end part of the pinky toe bone|Small end part of the little toe bone UMLS:C4022336 doelkens 2010-06-24T10:00:02Z human_phenotype owl:Class Nd854e961ae1c4f5485a2091c58ef4a39 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc5ff090fcd814b3ba399b0f61e26f3a4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N04a0d408f3a2490d9a900fec42fcda35 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005637 biolink:NamedThing pyloric region epithelium An epithelium that is part of a pylorus. tmpxe7fu0cj_hp_relaxed.owl RETIRED_EHDAA2:0001927|EHDAA2:0001582|EMAPA:17633 uberon owl:Class N6952fbb97cf64bf4bcd48bf1c937678e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N50a43f9161504d8780b7e4556f2c3bac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014777 biolink:NamedThing spinal neuromere A neuromere that is part of the presumptive spinal cord. tmpxe7fu0cj_hp_relaxed.owl spinal neuromeres|spinal cord metameric segment|spinal cord segment ZFA:0001332|TAO:0001332 uberon owl:Class N7386d6ae8a7b4966a0f32bece0e7e8ae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001410 biolink:NamedThing Decreased liver function Reduced ability of the liver to perform its functions. tmpxe7fu0cj_hp_relaxed.owl Decreased liver function|Liver dysfunction, mild|Liver dysfunction|Hepatopathy UMLS:C3279149|UMLS:C0086565|SNOMEDCT_US:77981007|SNOMEDCT_US:75183008|UMLS:C0232744|MSH:D008107 HP:0004393|HP:0006570|HP:0005228 owl:Class N0f077df83c2f46088d955e42fe0bb482 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000809 biolink:NamedThing Urinary tract atresia Congenital absence of the normal opening of a structure of the urinary tract. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1389003 peter 2008-02-27T04:07:00Z human_phenotype owl:Class N1103844594c9420599fac5452c367706 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010082 biolink:NamedThing Symphalangism affecting the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Fused outermost bone of big toe UMLS:C4024063 doelkens 2009-05-29T12:16:28Z human_phenotype owl:Class Nbe430c4c08dc4865994182f5374652a1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003570 biolink:NamedThing Molybdenum cofactor deficiency Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0268119|MSH:C535811|SNOMEDCT_US:29692004 human_phenotype owl:Class Na86d4da21ffe4ace81c897077367c109 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:50113 biolink:NamedThing androgen A sex hormone that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors. tmpxe7fu0cj_hp_relaxed.owl androgene|androgens|androgeno|Androgene|androgenes|androgenos|Androgen chebi_ontology owl:Class HP:0006266 biolink:NamedThing Small placenta Reduced size of the placenta. tmpxe7fu0cj_hp_relaxed.owl Small placenta SNOMEDCT_US:289264006|UMLS:C0566694 human_phenotype owl:Class Nf034813f78434854951e82e09ceee6f3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008266 biolink:NamedThing periodontal ligament The fibrous connective tissue that surrounds the root of a tooth, separating it from and attaching it to the alveolar bone. It extends from the base of the gingival mucosa to the fundus of the bony socket, and its main function is to hold the tooth in its socket[BTO]. tmpxe7fu0cj_hp_relaxed.owl peridontium|paradentium|peridental membrane|peridontal ligament fiber|peridontal fiber|peridontal membrane|peridontal ligament fibre|alveolodental membrane|peridontal ligament|odontoperiosteum|periodontal fibre|peridontal fibre|PDL|fibra periodontalis|alveolar periosteum|desmodontium|periodontal fiber|periodontium|alveolodental ligament EMAPA:35679|BTO:0001020|GAID:1259|MA:0002467|FMA:56665|CALOHA:TS-0763 The:Periodontium.jpg uberon owl:Class The fibrous connective tissue that surrounds the root of a tooth, separating it from and attaching it to the alveolar bone. It extends from the base of the gingival mucosa to the fundus of the bony socket, and its main function is to hold the tooth in its socket[BTO]. It consist of cells, extracellular compartment of fibers. The cells are fibroblast, epithelial, undifferentiated mesenchymal cells, bone and cementum cells. The extracellular compartment consists of collagen fibers bundles embedded in ground substance. The PDL substance has been estimated to be 70% water and is thought to have a significant effect on the tooth's ability to withstand stress loads[WP][BTO:0001020, Wikipedia:Periodontal_fiber, https://github.com/obophenotype/uberon/issues/21].|The collagen fibers, running from the cementum to the alveolar bone, that suspend a tooth in its socket; they include apical, oblique, horizontal, and alveolar crest fibers, indicating that the orientation of the fibers varies at different levels[http://www.drugs.com/dict/desmodentium.html]. FMA treats periodontium and periodontal ligament as the same; it has a separate class desmodentium, which we place here even though it is classified as fetal in FMA UBERON:0001758 biolink:NamedThing periodontium The tissues that invest or help to invest and support the teeth, including the periodontal ligament, gingivae, cementum, and alveolar and supporting bone[BTO]. tmpxe7fu0cj_hp_relaxed.owl tooth supporting structure|periodontal ligament|periodontal membrane|paradentium CALOHA:TS-2380|GAID:216|NCIT:C33304|BTO:0001021|UMLS:C0031093|MESH:A14.254.646 The:Periodontium.jpg uberon owl:Class FMA treats periodontium and periodontal ligament as the same CL:0001064 biolink:NamedThing malignant cell A neoplastic cell that is capable of entering a surrounding tissue tmpxe7fu0cj_hp_relaxed.owl cancer cell 2017-01-30 19:39:12+00:00 https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C12917 https://github.com/obophenotype/cell-ontology/issues/448 cell owl:Class UBERON:0009919 biolink:NamedThing ureter smooth muscle The smooth muscle tissue surrounding the epithelium of the ureter. tmpxe7fu0cj_hp_relaxed.owl ureteral smooth muscle|ureteral smooth muscle layer EMAPA:28811 uberon owl:Class UBERON:0006855 biolink:NamedThing muscular coat of ureter A muscular coat that is part of a ureter. tmpxe7fu0cj_hp_relaxed.owl tunica muscularis ureteris|muscular layer of ureter|muscularis of ureter|muscular coat of ureter|ureteral smooth muscle layer|tunica muscularis (ureter) FMA:15893|EMAPA:28811|MA:0002654 uberon owl:Class UBERON:0005424 biolink:NamedThing presumptive retinal pigmented epithelium Portion of tissue that is the outer layer of the optic cup and will become the retinal pigmented epithelium. tmpxe7fu0cj_hp_relaxed.owl optic cup outer layer|future retinal pigmented epithelium|outer layer optic cup|future pigmented retinal epithelium|presumptive pigmented epithelia|presumptive pigmented epithelium|future pigmented layer|future RPE|future PRE ZFA:0000064|EMAPA:16677|VHOG:0000492|TAO:0000064|EHDAA2:0001306 uberon owl:Class (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The outer layer of the optic cup becomes the pigment layer of the retina, whereas the inner layer differentiates into the photoreceptive cells and neuronal layers of the retina.[well established][VHOG] UBERON:0002128 biolink:NamedThing superior olivary complex A collection of brainstem nuclei that functions in multiple aspects of hearing and is an important component of the ascending and descending auditory pathways of the auditory system. tmpxe7fu0cj_hp_relaxed.owl regio olivaris superioris|superior olive|superior olivary nucleus|nucleus olivaris superior|superior olivary nuclei|superior olivary nucleus (Barr & Kiernan) BAMS:SOC|EMAPA:35840|MBA:398|MA:0001026|FMA:72247|DHBA:12462|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=569|HBA:9177|BIRNLEX:1307|Wikipedia:Superior_olivary_complex|VHOG:0001381|EV:0100263|UMLS:C0175427 http://upload.wikimedia.org/wikipedia/commons/4/46/Gray713.png uberon owl:Class In mice, the superior olivary nucleus is a small cylindrical mass on the dorsal surface of the lateral part of the trapezoid body of the pons, and it is situated immediately above the inferior olivary nucleus. It receives projections from the cochlear nucleus and thus is involved in the perception of sound[GO:0021718]|The SOC displays a significant interspecies variation, being largest in bats and rodents and smaller in primates. N764878e40fec47b1929aa75da1602bf7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021644 biolink:NamedThing vagus nerve morphogenesis The process in which the anatomical structure of the vagus nerve is generated and organized. This nerve is primarily sensory but also has visceromotor components. It originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components. It controls some motor functions such as speech. The sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis. tmpxe7fu0cj_hp_relaxed.owl CN X morphogenesis biological_process owl:Class HP:0000886 biolink:NamedThing Deformed rib cage Malformation of the rib cage. tmpxe7fu0cj_hp_relaxed.owl Deformed rib cage UMLS:C1838659 owl:Class Nf4b6a00d825e4735975b1c6578ac6561 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012125 biolink:NamedThing dermatological-muscosal system Anatomical system that consists of the integumental system plus all mucosae and submucosae. tmpxe7fu0cj_hp_relaxed.owl dermatological system uberon owl:Class N409536afd27142608899e7544badb8ba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N94cd25c39dd54c15bb38686f8daf5039 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001677 biolink:NamedThing sphenoid bone An unpaired bone situated at the base of the skull in front of the temporal bone and basilar part of the occipital bone. The sphenoid bone is one of the seven bones that articulate to form the orbit. Its shape somewhat resembles that of a butterfly or bat with its wings extended. tmpxe7fu0cj_hp_relaxed.owl sphenoidal bone|sphenoid|butterfly bone|os sphenoidum|os sphenoidale|sphenoid complex OpenCyc:Mx4rwAU9XpwpEbGdrcN5Y29ycA|NCIT:C12790|MA:0001472|UMLS:C0037884|FMA:52736|MESH:D013100|EMAPA:18340|CALOHA:TS-2343|GAID:230 http://upload.wikimedia.org/wikipedia/commons/6/66/Illu_cranial_bones2.jpg uberon owl:Class part of viscerocranium (facial skeleton) in FMA UBERON:0005021 biolink:NamedThing mucosa of sphenoidal sinus A mucosa that is part of a sphenoidal sinus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl sphenoid sinus mucous membrane|sphenoid sinus organ mucosa|organ mucosa of sphenoid sinus|sphenoidal sinus mucous membrane|mucous membrane of sphenoid sinus|mucosa of organ of sphenoidal sinus|sphenoidal sinus mucosa of organ|sphenoidal sinus organ mucosa|mucosa of organ of sphenoid sinus|mucosa of sphenoid sinus|organ mucosa of sphenoidal sinus|sphenoid sinus mucosa of organ|sphenoidal sinus mucosa|sphenoid sinus mucosa|mucous membrane of sphenoidal sinus FMA:59775 decide whether cavities can be part of mucosae uberon owl:Class HP:0001816 biolink:NamedThing Thin nail Nail that appears thin when viewed on end. tmpxe7fu0cj_hp_relaxed.owl Thin nail|Thin nails UMLS:C0423823|SNOMEDCT_US:63829008 No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males. Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it indicates also other characteristics than thin nails, it should not be used to indicate this. The affected digits should be specified. human_phenotype owl:Class Nb07b7feb9f7440c4911688878f8a17f9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000442 biolink:NamedThing right testicular vein A vein that drains the left pampiniform plexus and empties into the left renal vein. tmpxe7fu0cj_hp_relaxed.owl vena testicularis (adrenalis) dextra|right spermatic vein|vena testicularis dextra|vena testicularis sinistra EMAPA:37383|BTO:0002679|MA:0002220|NCIT:C52697|FMA:14341 uberon owl:Class HP:0031308 biolink:NamedThing Vertebral artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery. tmpxe7fu0cj_hp_relaxed.owl 2017-08-26 21:33:38+00:00 peter owl:Class N46937025e9b54043a1fe4febbb8882ec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001112 biolink:NamedThing latissimus dorsi muscle The latissimus dorsi is the larger, flat, dorso-lateral muscle on the trunk, posterior to the arm, and partly covered by the trapezius on its median dorsal region. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl dorsal latissimus muscle|musculus latissimus dorsi|latissimus dorsi|latissimi dorsi MA:0002331|UMLS:C0224362|EHDAA2:0000932|FMA:13357|VHOG:0000930|EHDAA:8307|NCIT:C33150|EFO:0003067|EMAPA:18178 Dorsal group[Kardong] Latissimus:dorsi.png uberon owl:Class In humans it inserts along a roughened line deep in the groove. In other mammals (most, I believe) it is an actual projection, the latissimus dorsi process [FEED:rd] [https://github.com/obophenotype/uberon/issues/1192] GO:0060413 biolink:NamedThing atrial septum morphogenesis The developmental process in which atrial septum is generated and organized. The atrial septum separates the upper chambers (the atria) of the heart from one another. tmpxe7fu0cj_hp_relaxed.owl interatrial septum morphogenesis GO:0003287 biological_process owl:Class GO:0031642 biolink:NamedThing negative regulation of myelination Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons. tmpxe7fu0cj_hp_relaxed.owl downregulation of myelination|down-regulation of myelination|down regulation of myelination|inhibition of myelination biological_process owl:Class HP:0000232 biolink:NamedThing Everted lower lip vermilion An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. tmpxe7fu0cj_hp_relaxed.owl Drooping lower lip|Eclabium of lower lip|Everted lower lip|Everted prominent lower lip|Outward turned lower lip|Protruding lower lip UMLS:C1853246|UMLS:C1866234 In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term. HP:0000184|HP:0002264|HP:0009086|HP:0004665|HP:0002712|HP:0009093 human_phenotype owl:Class N21e99e8ae14a40308feeeba3e40d0ce1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004934 biolink:NamedThing Vascular calcification Abnormal calcification of the vasculature. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:237897009|MSH:D061205|UMLS:C0342649 owl:Class N46eec8e01fef475785aeabb1ed45ba81 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:5520 biolink:NamedThing gonadorelin A ten-membered synthetic oligopeptide comprising pyroglutamyl, histidyl, tryptophyl, seryl, tyrosyl, glycyl, leucyl, arginyl, prolyl and glycinamide residues joined in sequence. tmpxe7fu0cj_hp_relaxed.owl LH-Releasing hormone|p-Glu-His-Trp-Ser-Tyr-Gly-Leu-Arg-Pro-Gly-NH2|Follicle-stimulating hormone-releasing factor|5-oxo-L-prolyl-L-histidyl-L-tryptophyl-L-seryl-L-tyrosylglycyl-L-leucyl-L-arginyl-L-prolylglycinamide|Gonadoliberin I|gonadorelina|luliberin|Gonadotropin-releasing hormone I|LH-Releasing factor|Luteinizing hormone-releasing factor|Gonadotropin-releasing factor|5-oxo-PHWSYGLRPGNH2|Gonadorelin|gonadorelin|GnRH-I|gonadorelinum 0 C55H75N17O13 InChI=1S/C55H75N17O13/c1-29(2)19-38(49(80)67-37(9-5-17-60-55(57)58)54(85)72-18-6-10-43(72)53(84)62-25-44(56)75)66-46(77)26-63-47(78)39(20-30-11-13-33(74)14-12-30)68-52(83)42(27-73)71-50(81)40(21-31-23-61-35-8-4-3-7-34(31)35)69-51(82)41(22-32-24-59-28-64-32)70-48(79)36-15-16-45(76)65-36/h3-4,7-8,11-14,23-24,28-29,36-43,61,73-74H,5-6,9-10,15-22,25-27H2,1-2H3,(H2,56,75)(H,59,64)(H,62,84)(H,63,78)(H,65,76)(H,66,77)(H,67,80)(H,68,83)(H,69,82)(H,70,79)(H,71,81)(H4,57,58,60)/t36-,37-,38-,39-,40-,41-,42-,43-/m0/s1 XLXSAKCOAKORKW-AQJXLSMYSA-N 1182.29010 1181.57303 CC(C)C[C@H](NC(=O)CNC(=O)[C@H](Cc1ccc(O)cc1)NC(=O)[C@H](CO)NC(=O)[C@H](Cc1c[nH]c2ccccc12)NC(=O)[C@H](Cc1c[nH]cn1)NC(=O)[C@@H]1CCC(=O)N1)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N1CCC[C@H]1C(=O)NCC(N)=O PMID:22112812|PMID:22289217|PMID:22214466|PMID:22504307|Wikipedia:Gonadorelin|KEGG:D08027|KEGG:C07607|PMID:22761896|Reaxys:741807|PMID:21872303|DrugBank:DB00644|Drug_Central:2958|CAS:33515-09-2 chebi_ontology owl:Class CHEBI:63533 biolink:NamedThing gonadotropin releasing hormone agonist Any drug which binds to gonadotropin-releasing hormone receptors and triggers a response. tmpxe7fu0cj_hp_relaxed.owl gonadotropin releasing hormone agonists|GnRH agonists|GnRH agonist|gonadotrophin releasing hormone agonists|GnRH-A|gonadotrophin releasing hormone agonist Wikipedia:Gonadotropin-releasing_hormone_agonist chebi_ontology owl:Class UBERON:0003059 biolink:NamedThing presomitic mesoderm Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. tmpxe7fu0cj_hp_relaxed.owl unsegmented paraxial mesoderm|PSM|segmental plate|presumptive somite mesoderm|somitomeric mesoderm|somitogenic mesoderm|unsegmented mesenchyme TAO:0000279|XAO:0000057|EMAPA:16752|ZFA:0000279|EFO:0001982|AAO:0011086|VHOG:0000559|EMAPA:16189 uberon owl:Class Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. Kimmel et al, 1995.[TAO] It is reasonable to assume that the proximate invertebrate ancestor of the vertebrates had an amphioxus-like tail bud in its larval stage. This archetypal tail bud would have (...) (3) lacked any component of mesenchyme cells, (4) budded off new mesodermal segments directly, without any intervening zone of presomitic mesoderm (...). Then, early in vertebrate evolution, epithelium-to-mesenchyme interconversions (and the gene networks for effecting them) became prominent features of development. (...) In any case, conspicuous mesenchymal components tended to be added to the vertebrate tail bud itself. In addition, a mesenchymatous presomitic mesoderm (not a part of the tail bud proper) came to intervene between the tail bud and the forming somites.[well established][VHOG] N8f7b0344a8624ad3a91e9eb4e33ba0ff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:5106051 biolink:NamedThing digit 4 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of digit 4 plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl digit 4 skeleton|digit 4|digit IV digitopodial skeleton this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class UBERON:0004375 biolink:NamedThing bone of free limb or fin A bone that is part of an appendage [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bone of appendage|bone of free segment of appendicular skeleton|appendage bone uberon owl:Class UBERON:0004708 biolink:NamedThing paired limb/fin An appendage that is part of an appendage girdle complex. tmpxe7fu0cj_hp_relaxed.owl jointed paired lateral appendage|pectoral or pelvic appendage|limb or fin|pelvic/pectoral appendage|girdle-associated appendage|limb/fin|paired appendage VSAO:0000067 this class is the union of the classes limb, pectoral fin and pelvic fin. UBERON:0009872 uberon owl:Class PR:000001083 biolink:NamedThing CD2 molecule A protein that is a translation product of the human CD2 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl LFA-2|CD2|SRBC|LFA-3 receptor|lymphocyte antigen 37|T-cell surface antigen CD2|T-cell surface glycoprotein CD2|erythrocyte receptor|T-cell surface antigen T11/Leu-5|ly-37|rosette receptor IUPHARobj:2600|PIRSF:PIRSF001984 Category=gene. Requested by=CL. protein owl:Class UBERON:0002031 biolink:NamedThing epithelium of bronchus An epithelium that is part of a bronchus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of bronchial trunk|bronchial epithelium|bronchial trunk epithelial tissue|bronchi epithelial tissue|bronchi epithelium|epithelial tissue of bronchi|bronchus epithelial tissue|bronchus epithelium|epithelium of bronchial trunk|epithelial tissue of bronchus|epithelium of bronchi|bronchial trunk epithelium MA:0001839|FMA:67782|CALOHA:TS-1240|UMLS:C0599333|NCIT:C32231|BTO:0001845|EMAPA:32691|EFO:0000307 uberon owl:Class Nee0e356dfd7347269db88f890b8649e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010312 biolink:NamedThing immature eye Developing anatomical structure that develops into the eyeball and associated structures. tmpxe7fu0cj_hp_relaxed.owl future eye TAO:0002201|ZFA:0001678 uberon owl:Class Multi-tissue structure that consists of the structures that develop into the retina and lens.[TAO] PATO:0002302 biolink:NamedThing decreased process quality A quality of a process that has a value that is decreased compared to normal or average. tmpxe7fu0cj_hp_relaxed.owl 2011-06-16T06:50:59Z quality owl:Class UBERON:0006292 biolink:NamedThing shoulder joint primordium tmpxe7fu0cj_hp_relaxed.owl EMAPA:17712|EHDAA2:0001836|EHDAA:8493 uberon owl:Class this is part of the forelimb skeleton in EHDAA2, but this violates part-disjointness Ne57c3e303f954529a158ad040c5cd31f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000348 biolink:NamedThing ophthalmic nerve The sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the orbit and its contents, the nasal cavity and the skin of the nose and forehead. tmpxe7fu0cj_hp_relaxed.owl nervus ophthalmicus (Va)|first division of fifth cranial nerve|ramus opthalmicus profundus (ramus V1)|profundus|nervus ophthalmicus [va]|ethmoidal nerve|trigeminal V nerve ophthalmic division|rostral branch of trigeminal nerve|nervus ophthalmicus [v1]|ophthalmic nerve [V1]|ophthalmic division [Va]|opthalmic nerve|ophthalmic division of fifth cranial nerve|ophthalmic division [V1]|ophthalmic division|first branch of fifth cranial nerve|nervus ophthalmicus (V1)|cranial nerve V, branch V1|ciliary nerve|ophthalmic nerve [Va]|ophthalmic division of trigeminal nerve (Va)|trigeminal nerve ophthalmic division|profundus nerve|first division of trigeminal nerve|ophthalmic division of trigeminal nerve (V1)|profundal nerve GAID:837|NCIT:C33215|UMLS:C0029082|EHDAA:3744|EHDAA2:0002088|FMA:52621|EMAPA:17800|MESH:D009882|BTO:0000926|VHOG:0001349|OpenCyc:Mx4rwEs_K5wpEbGdrcN5Y29ycA|MA:0001104|AAO:0010648 Terminology notes. This nerve is known by a ridiculous number of names[http://palaeos.com/vertebrates/glossary/glossaryPo.html] uberon owl:Class Sensory medial ramus of the trigeminal nerve.[AAO] The profundus nerve is a distinct nerve only in fishes. (...) In mammals, the profundus nerve is the same as the most rostral (ophthalmic) branch of the trigeminal nerve.[well established][VHOG] UBERON:0036657 biolink:NamedThing wall of fourth ventricle tmpxe7fu0cj_hp_relaxed.owl FMA:242778 uberon owl:Class UBERON:0002130 biolink:NamedThing cerebellar nuclear complex The gray matter nuclei located in the center of the cerebellum, embedded in the white matter, which receive inhibitory (GABAergic) inputs from Purkinje cells in the cerebellar cortex and excitatory (glutamatergic) inputs from mossy fiber pathways; all output fibers of the cerebellum originate from the these nuclei[MP]. tmpxe7fu0cj_hp_relaxed.owl intracerebellar nuclei|cerebellar nuclei|central nuclei|roof nuclei-2|intrinsic nuclei of cerebellum|nuclei cerebellaris|nuclei cerebellares|deep cerebellar nuclear complex|deep cerebellar nuclei|nuclei cerebelli DHBA:10660|MESH:D002529|HBA:4780|BIRNLEX:1568|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=682|BAMS:DNC|BAMS:DCb|UMLS:C0007763|FMA:72249|EV:0100299|BAMS:CBN|BAMS:CBn|MBA:519|GAID:599 http://upload.wikimedia.org/wikipedia/commons/2/23/Gray707.png UBERON:0004007 uberon owl:Class UBERON:0003923 biolink:NamedThing dorsal pancreatic bud Pancreatic bud that gives rise to the accessory pancreatic duct. tmpxe7fu0cj_hp_relaxed.owl posterior pancreatic bud|dorsal pancreatic anlage|pancreas dorsal primordium duct bud|dorsal pancreas anlage|primary pancreatic bud|posterior pancreatic anlage|pancreas primordium dorsal bud XAO:0000467|EFO:0003465|AAO:0011031|EMAPA:17067|EHDAA2:0001385|TAO:0001370|ZFA:0001370|VHOG:0001428 http://upload.wikimedia.org/wikipedia/commons/d/db/Gray982.png uberon owl:Class The pancreatic bud that gives rise to the accessory pancreatic duct.[AAO] In chick, Xenopus laevis, and the teleost fish Medaka, the pancreas develops from three buds that emerge from the gut tube, two from its ventral aspect, and one from its dorsal aspect. In mouse, although there are initially three buds that arise from the gut tube at the point of contact between the endoderm and the vasculature, the pancreas develops from only two of these buds, one dorsal and one ventral. (...) In this study, we use a transgenic zebrafish line (...). We provide evidence for the existence of two distinct pancreatic anlagen - a ventral anterior bud and a dorsal posterior bud - that join to form the definitive pancreas (reference 1); The pancreas develops from the fusion of distinct endoderm-derived dorsal and ventral diverticula. In humans, by day 35 of development, the ventral pancreatic bud begins to migrate backwards and comes into contact and eventually fuses with the dorsal pancreatic bud during the sixth week of development (reference 2).[well established][VHOG] UBERON:0003924 biolink:NamedThing ventral pancreatic bud Pancreatic bud that gives rise to the major pancreatic duct. tmpxe7fu0cj_hp_relaxed.owl ventral pancreas anlage|pancreas primordium ventral bud|ventral pancreatic anlage|anterior pancreatic anlage|anterior pancreatic bud|pancreas ventral primordium duct bud AAO:0011111|VHOG:0001429|TAO:0001369|EMAPA:17256|EHDAA2:0001389|ZFA:0001369|EFO:0003464|XAO:0001103 http://upload.wikimedia.org/wikipedia/commons/d/db/Gray982.png uberon owl:Class In chick, Xenopus laevis, and the teleost fish Medaka, the pancreas develops from three buds that emerge from the gut tube, two from its ventral aspect, and one from its dorsal aspect. In mouse, although there are initially three buds that arise from the gut tube at the point of contact between the endoderm and the vasculature, the pancreas develops from only two of these buds, one dorsal and one ventral. (...) In this study, we use a transgenic zebrafish line (...). We provide evidence for the existence of two distinct pancreatic anlagen - a ventral anterior bud and a dorsal posterior bud - that join to form the definitive pancreas (reference 1); The pancreas develops from the fusion of distinct endoderm-derived dorsal and ventral diverticula. In humans, by day 35 of development, the ventral pancreatic bud begins to migrate backwards and comes into contact and eventually fuses with the dorsal pancreatic bud during the sixth week of development (reference 2).[well established][VHOG] the ventral pancreas and liver are derived from a common precursor cell population[PMID:16417468]. TODO - add this relationship.|The ventral pancreatic bud becomes the head and uncinate process, and comes from the hepatic diverticulum[WP] UBERON:0010376 biolink:NamedThing pancreas ventral primordium tmpxe7fu0cj_hp_relaxed.owl ventral pancreas FMA:79794|EHDAA2:0001387 uberon owl:Class Starts at CS14 in human (EHDAA2) or CS13-14 (embryology.ch 'bud anlagen') UBERON:0002486 biolink:NamedThing glottis The vocal apparatus of the larynx, which includes the vocal cords and the opening between them. tmpxe7fu0cj_hp_relaxed.owl GAID:343|BTO:0001627|AAO:0010610|FMA:55414|MA:0002788|MESH:D005931|UMLS:C0017681|NCIT:C12724 Arytenoid:cartilage.png uberon owl:Class A small, slit-like aperture lying longitudinally on the floor of the pharynx.[AAO] GO:0007620 biolink:NamedThing copulation The act of sexual union between male and female, involving the transfer of sperm. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Nf13c52c09cda4eb0be8b73c4a70d22f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100138 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the outermost bone of the 3rd toe UMLS:C4022283 doelkens 2010-06-24T10:23:44Z human_phenotype owl:Class N5a83a2c659c84b388b551684564a48a1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003007 biolink:NamedThing heart morphogenesis The developmental process in which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. tmpxe7fu0cj_hp_relaxed.owl cardiac morphogenesis biological_process owl:Class UBERON:0007123 biolink:NamedThing pharyngeal pouch 2 A pharyngeal puch that is between the pharyngeal arches 2 and 3. tmpxe7fu0cj_hp_relaxed.owl pharyngeal pouches 2|second arch pharyngeal pouch|second visceral pouch|2nd arch branchial pouch|2nd arch pouch endoderm|2nd pharyngeal pouch endoderm|2nd branchial pouch|visceral pouch 2|2nd arch branchial pouch endoderm|second pharyngeal pouch EMAPA:16276|FMA:295676|RETIRED_EHDAA2:0000060|XAO:0000247|TAO:0001130|SCTID:345349000|UMLS:C0231069|ZFA:0001130|NCIT:C34289|VHOG:0000967|EFO:0003633|AAO:0011115|VHOG:0000561|Wikipedia:Pharyngeal_pouch_(embryology)#Second_pouch|EHDAA2:0000058|EMAPA:16275 UBERON:0005715 uberon owl:Class A pouch that is situated between the 2nd and 3rd pharyngeal arch. [ISBN:0124020607][VHOG]|Second of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO] A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] the dorsal elongation of the second pouch endoderm of all mammals, with the exception of rodents, gives rise to the epithelial lining of palatine tonsils; in rodents, the ventral portion of the second pouch appears to degenerate whereas the remaining part is incorporated into the lateral border of the pharynx; it appears that rodents no longer require tonsils as their function is carried out by the NALT (Nose/Nasal-Associated Lymphoid Tissue) system in the upper respiratory tract. Contributes to the middle ear, epithelial lining of Crypts (spaces) of the palatine tonsils, supplied by the facial nerve UBERON:0001200 biolink:NamedThing submucosa of stomach The fibrous connective tissue layer beneath the stomach mucosa. tmpxe7fu0cj_hp_relaxed.owl gastric submucosa|tela submucosa gastricae|ventriculus submucosa|stomach submucosa|tela submucosa ventriculi|submucosa of ventriculus|submucous layer of stomach|tela submucosa (gaster) BTO:0002110|FMA:14908|MA:0002685|SCTID:52459002|UMLS:C0227211|EMAPA:35825|NCIT:C32663 uberon owl:Class Nc123b782285448a5b896ccb4192ffaae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N30d2c701206c48ec86cccc1c5e211b01 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0033293 biolink:NamedThing monocarboxylic acid binding Binding to a monocarboxylic acid, any organic acid containing one carboxyl (COOH) group or anion (COO-). tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class Nf9bf58624a234233848e3fc2f5f5f7d6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000341 biolink:NamedThing Narrow forehead Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). tmpxe7fu0cj_hp_relaxed.owl Narrow bitemporal diameter|Bitemporal narrowing|Temporal narrowness|Intertemporal narrowing|Bitemporal narrowness|Decreased width of the forehead|Bitemporal skull narrowing|Narrow forehead|Narrow bitemporal width UMLS:C1839758 A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. HP:0004677|HP:0004674|HP:0000314 human_phenotype owl:Class N9f13d904fac1485baab74bbd48ece397 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014885 biolink:NamedThing distal epiphysis of distal phalanx of manual digit 5 A distal epiphysis that is part of a distal phalanx of manual digit 5. tmpxe7fu0cj_hp_relaxed.owl distal epiphysis of distal phalanx of manual digit V|distal end of distal phalanx of fifth finger|head of distal phalanx of fifth finger|ungual tuberosity of distal phalanx of little finger|distal end of distal phalanx of little finger|distal epiphysis of distal phalanx of little finger|head of distal phalanx of little finger|head of distal phalanx of fifth digit of hand FMA:37657 uberon owl:Class UBERON:0019196 biolink:NamedThing iliac artery endothelium tmpxe7fu0cj_hp_relaxed.owl BTO:0004661 uberon owl:Class GO:0002794 biolink:NamedThing regulation of antimicrobial peptide secretion Any process that modulates the frequency, rate, or extent of antimicrobial peptide secretion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0008814 biolink:NamedThing pharyngeal arch system A transient embryonic complex that comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming, which may include (depending on species) the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear[GO,modified]. tmpxe7fu0cj_hp_relaxed.owl pharyngeal arch complex|embryonic pharyngeal complex|pharyngeal complex|pharyngeal apparatus|pharyngeal arches and clefts|pharyngeal arch region|pharyngeal system EHDAA2:0000187|UMLS:C1519038|NCIT:C34248|FMA:293041 Currently defined in a vertebrate specific manner. The arch system has origins in basal deuterostomes, consider generalizing uberon owl:Class UBERON:0006947 biolink:NamedThing male genital duct A duct or series of ducts that transports sperm from the gonad. In mammals this is from the seminiferous tubules through rete testis, vas efferentia, epididymis, vas deferens, ejeculatory duct to the urethra. tmpxe7fu0cj_hp_relaxed.owl sperm duct|sperm ducts FMA:55678|TAO:0001268|ZFA:0001268 UBERON:0010140 uberon owl:Class we use this as a generic grouping class for a number of taxa in FMA includes as parts: seminal vesicle, efferent ductule (vas efferentia), epididymis, deferent duct (vas deferens), ejaculatory duct HP:0001106 biolink:NamedThing Periorbital hyperpigmentation Increased pigmentation of the skin in the region surrounding the orbit of the eye. tmpxe7fu0cj_hp_relaxed.owl Dark circles around the eyes|Darkening around the eyes|Infraorbital pigmentation|Periorbital melanosis|Dark circles under the eyes|Pigmentation around the eyes|Idiopathic cutaneous hyperchromia at the orbital region UMLS:C1844606 human_phenotype owl:Class N2dff19e0fc974ca9af23d69ad9608184 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001308 biolink:NamedThing external iliac artery The external iliac artery is a large artery in the pelvic region that carries blood to the lower limb. The external iliac artery is a paired artery, meaning there is one on each side of the body: a right external iliac artery and left external iliac artery. The external iliac artery is accompanied by the external iliac vein, which is located posterior to the artery. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl arteria iliaca externa MA:0001973|NCIT:C32558|BTO:0004666|UMLS:C0226398|EHDAA2:0000463|EHDAA:4337|EMAPA:17614|galen:ExternalIliacArtery|OpenCyc:Mx4rvkh47pwpEbGdrcN5Y29ycA|FMA:18805 http://upload.wikimedia.org/wikipedia/commons/3/3e/Gray539.png uberon owl:Class UBERON:0004292 biolink:NamedThing cardiac skeleton Dense connective tissue that separates the atria from the ventricles and provides physical support for the heart. tmpxe7fu0cj_hp_relaxed.owl trigonum fibrosum sinistrum cordis|cardiac fibrous skeleton|fibrous skeleton of heart|skeleton of heart|trigonum fibrosum dextrum cordis|heart fibrous skeleton|trigona fibrosa|anulus fibrosus dexter cordis|anulus fibrosus sinister cordis Wikipedia:Cardiac_skeleton|EMAPA:36645|FMA:9496 http://upload.wikimedia.org/wikipedia/commons/5/50/Gray495.png uberon owl:Class It is not a true skeleton, but it does provide structure and support for the heart, as well as isolating the atria from the ventricles. This allows the AV node and AV bundle to delay the wave of depolarisation such that the atria can contract and assist in ventricular filling before the ventricles themselves depolarise and contract (the AV bundle is the only part of the conduction system that passes from the atria to the ventricles in a normal heart). It also allows the valves (bicuspid, tricuspid, semilunar) to keep open by giving them structural support[WP] GO:0099187 biolink:NamedThing presynaptic cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures and their associated proteins in the presynaptic cytoskeleton. tmpxe7fu0cj_hp_relaxed.owl dos 2017-12-20T15:05:34Z biological_process owl:Class HP:0001659 biolink:NamedThing Aortic regurgitation An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. tmpxe7fu0cj_hp_relaxed.owl Aortic insufficiency|Aortic valve regurgitation MSH:D001022|UMLS:C0003504|SNOMEDCT_US:60234000 human_phenotype owl:Class Nc766dd2277144f5e95fa9eec9b07b1da biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100592 biolink:NamedThing Peritoneal abscess The presence of an abscess of the peritoneum. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:73962000|UMLS:C0267756 doelkens 2010-12-27T04:30:53Z human_phenotype owl:Class Nef4598e36b9c477f9ef618c6d6f4391e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0009004 biolink:NamedThing retinal cell Any cell in the retina, the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. tmpxe7fu0cj_hp_relaxed.owl PMID:10702418 cell owl:Class HP:0000385 biolink:NamedThing Small earlobe Reduced volume of the earlobe. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic lobules|Small earlobes|Small earlobe|Hypoplastic earlobes UMLS:C1842680 All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. HP:0008616 owl:Class N2f0c5d274f5f4537a1c1d4f98160934b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008155 biolink:NamedThing Mucopolysacchariduria Excessive amounts of mucopolysaccharide in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024726 This finding is suggestive of the diagnosis of a mucopolysaccharidosis. HP:0003567 human_phenotype owl:Class N1699afeb27de4edf871c8652653f03f9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0000768 biolink:NamedThing syncytium formation by plasma membrane fusion The formation of a syncytium, a mass of cytoplasm containing several nuclei enclosed within a single plasma membrane, by the fusion of the plasma membranes of two or more individual cells. tmpxe7fu0cj_hp_relaxed.owl cell fusion biological_process owl:Class UBERON:0014392 biolink:NamedThing sweat of palm Sweat that is produced by the glands on the palmar and plantar surfaces. tmpxe7fu0cj_hp_relaxed.owl palm sweat|palmar sweat FMA:63084 uberon owl:Class serves a purpose of increasing friction on the palms of hands or the pads of paws[WP] GO:2001198 biolink:NamedThing regulation of dendritic cell differentiation Any process that modulates the frequency, rate or extent of dendritic cell differentiation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-11-04T02:01:27Z biological_process owl:Class N6ab588a19e51493c89bae153fc11905d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd8091a92d6754a73a4345ea7bac79df9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb754fc4e30284048943a95fd0ed5a1ba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1905461 biolink:NamedThing positive regulation of vascular associated smooth muscle cell apoptotic process Any process that activates or increases the frequency, rate or extent of vascular associated smooth muscle cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl up-regulation of vascular associated smooth muscle cell apoptosis|upregulation of vascular associated smooth muscle cell apoptotic process|positive regulation of vascular associated smooth muscle cell apoptosis|up regulation of vascular smooth muscle cell apoptosis|up-regulation of VSMC apoptotic process|positive regulation of vascular smooth muscle cell apoptosis|activation of vascular smooth muscle cell apoptotic process|up-regulation of vascular smooth muscle cell apoptosis|up-regulation of vascular associated smooth muscle cell apoptotic process|up regulation of vascular associated smooth muscle cell apoptosis|upregulation of vascular smooth muscle cell apoptotic process|positive regulation of VSMC apoptotic process|upregulation of vascular associated smooth muscle cell apoptosis|upregulation of VSMC apoptosis|up regulation of vascular smooth muscle cell apoptotic process|up regulation of VSMC apoptosis|up regulation of vascular associated smooth muscle cell apoptotic process|up-regulation of vascular smooth muscle cell apoptotic process|up-regulation of VSMC apoptosis|activation of vascular associated smooth muscle cell apoptosis|activation of VSMC apoptosis|positive regulation of vascular smooth muscle cell apoptotic process|activation of VSMC apoptotic process|upregulation of vascular smooth muscle cell apoptosis|activation of vascular associated smooth muscle cell apoptotic process|activation of vascular smooth muscle cell apoptosis|up regulation of VSMC apoptotic process|upregulation of VSMC apoptotic process|positive regulation of VSMC apoptosis rph 2016-09-19T11:34:10Z biological_process owl:Class HP:0025059 biolink:NamedThing Splenic abscess A circumscribed area of pus or necrotic debris in the parenchyma of the spleen. tmpxe7fu0cj_hp_relaxed.owl 2016-09-26 09:11:25+00:00 Splenic abscesses generally occur in patients with neoplasia, immunodeficiency, trauma, metastatic infection, splenic infarct or diabetes. HPO:probinson owl:Class Nf602ec539eeb4a8db23e0ee31580e9f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500208 biolink:NamedThing Increased CSF lysine concentration Abnormally increased levels of lysine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High lysine levels in cerebrospinal fluid 2019-02-25 18:32:16+00:00 owl:Class N2ba296089b5e462fac14adc9d2d1076d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002359 biolink:NamedThing fibrous pericardium Membrane organ which is attached to the pericardial sac proper and the central tendon of diaphragm and is continuous with the pretracheal fascia.[FMA]. tmpxe7fu0cj_hp_relaxed.owl fibrous portion of pericardium|pericardium fibrosum FMA:9586|SCTID:243953008|MA:0002738|EMAPA:19029|Wikipedia:Fibrous_pericardium uberon owl:Class most superficial part of pericardium; continuous with the outer adventitial layer of the neighboring great blood vessels. [Wikipedia:Pericardium] CHEBI:57652 biolink:NamedThing chondroitin D-glucuronate anion Anionic form of chondroitin D-glucuronate arising from deprotonation of the carboxylic acid groups of the repeating units; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl chondroitin D-glucuronate|chondroitin D-glucuronate polyanion H2O(C14H20NO11)n chebi_ontology owl:Class CHEBI:16137 biolink:NamedThing chondroitin D-glucuronate A mucopolysaccharide composed of repeating beta-D-glucopyranuronosyl-(1->3)-beta-D-N-acetylgalactosaminyl units. tmpxe7fu0cj_hp_relaxed.owl Chondroitin|Chondroitin-D-glucuronate (C14H21NO11)nH2O KEGG:C00401|KEGG:G11334 CHEBI:13989|CHEBI:23221|CHEBI:13992|CHEBI:3673 chebi_ontology owl:Class HP:0410066 biolink:NamedThing Increased level of hippuric acid in urine An increase in the level of hippuric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased level of N-benzoylglycine in urine 2018-01-29 22:42:45+00:00 ORCID:0000-0001-5208-3432 owl:Class N05e708ac47a348c6aa1092e7e4d8fa18 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001154 biolink:NamedThing elongated A quality inhering in a bearer by virtue of the bearer's length being notably higher than its width. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:0006893 biolink:NamedThing Golgi to plasma membrane transport The directed movement of substances from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane, where they fuse and release their contents by exocytosis. tmpxe7fu0cj_hp_relaxed.owl Golgi to plasma membrane vesicle-mediated transport biological_process owl:Class UBERON:0012276 biolink:NamedThing endometrium glandular epithelium tmpxe7fu0cj_hp_relaxed.owl glandular part of endometrium|uterine glands|uterine glands set MA:0002732|FMA:86488|EMAPA:35308 uberon owl:Class UBERON:0001786 biolink:NamedThing fovea centralis A depression in the inner retinal surface within the macula lutea, the photoreceptor layer of which is entirely cones and which is specialized for maximum visual acuity. tmpxe7fu0cj_hp_relaxed.owl centre of macula|fovea|fovea centralis in macula|centre of fovea UMLS:C0016622|FMA:58658|CALOHA:TS-2055|MA:0001307|UMLS:C0450290|EV:0100350|MESH:D005584|NCIT:C26463|GAID:910|EMAPA:37589|VHOG:0001572|BIRNLEX:2543 http://upload.wikimedia.org/wikipedia/commons/1/1e/Schematic_diagram_of_the_human_eye_en.svg uberon owl:Class A small pit in the center of the macula lutea, the area of clearest vision, where the retinal layers are spread aside, and light falls directly on the cones. [TFD][VHOG] Definition of fovea centralis should be considered here as 'an area centralis at the visual axis' (reference 1). There is an uncertaincy of the relation, because: 1.-The fovea first appeared in evolution in the temporal retina of fishes. Then, in birds, the nasal fovea and bifoveal system with nasal and temporal foveas developed. The fovea disappeared in primitive mammals, and reappeared in primates. A residue of the fovea is conserved in the visual streak, and the disappearance and reappearance of the fovea, in primitive mammals and primates respectively, correlates with degeneration and restoration of cone pigment genes in photoreceptors (reference 2). 2.-Many retinal features (foveas, trichromacy, midget pathways and associated cell types) appear specific to primates. This has led to investigations in parallel with other mammalian models such as cat or rabbit. Correlation of the results often proves to be difficult, since an evolutionary scenario with transitions between the mammalian models is largely lacking (reference 3).[uncertain][VHOG] foveal The fovea is also a pit in the surface of the retinas of many types of fish, reptiles, and birds. Among mammals, it is found only in simian primates. The retinal fovea takes slightly different forms in different types of animals. For example, in primates, cone photoreceptors line the base of the foveal pit, the cells that elsewhere in the retina form more superficial layers having been displaced away from the foveal region during late fetal and early postnatal life. Other foveae may show only a reduced thickness in the inner cell layers, rather than an almost complete absence high acuity vision CHEBI:28838 biolink:NamedThing lutein tmpxe7fu0cj_hp_relaxed.owl owl:Class N81da6facc0d946928261c2b4987e87b5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N450d22fa5eef410e85bcd6e8e097b61a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9f1a0a398a1e4ba6ac567f34e3690839 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014668 biolink:NamedThing distal interphalangeal joint of manual digit 2 tmpxe7fu0cj_hp_relaxed.owl distal interphalangeal joint of manual digit II|distal interphalangeal joint of index finger FMA:35334 uberon owl:Class UBERON:0001776 biolink:NamedThing optic choroid Vascular layer containing connective tissue, of the eye lying between the retina and the sclera. The choroid provides oxygen and nourishment to the outer layers of the retina. Along with the ciliary body and iris, the choroid forms the uveal tract[WP]. tmpxe7fu0cj_hp_relaxed.owl choroidea|optic choroid|choroid|eye choroid|chorioid|posterior uvea|choroid coat BTO:0001829|ZFA:0005229|UMLS:C0008520|FMA:58298|NCIT:C12344|SCTID:181172003|CALOHA:TS-2054|MA:0000263|Wikipedia:Choroid|EV:0100347|EMAPA:19077|TAO:0005229|MESH:D002829|VHOG:0001568|GAID:913 http://upload.wikimedia.org/wikipedia/commons/1/1e/Schematic_diagram_of_the_human_eye_en.svg check choroid vs choroid layer; check ZFA/TAO placement - no homology assertion in VHOG. Note this is entirely in the posterior region of eyeball in ZFA uberon owl:Class choroidal MP treats posterior uvea and optic choroid as distinct UBERON:0013704 biolink:NamedThing notochordal canal A tubular passage that extends from the primitive pit into the head process during the early stages of embryonic development in mammals. It perforates the splanchnopleure layer so that the yolk sac and the amnion are connected temporarily. tmpxe7fu0cj_hp_relaxed.owl chordal canal FMA:293127|UMLS:C1518428|NCIT:C34230 uberon owl:Class HP:0000067 biolink:NamedThing Urethral atresia, female Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025890 human_phenotype owl:Class Nec43dab8f9b8440d9483a93e0745c88b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:30915 biolink:NamedThing 2-oxoglutaric acid An oxo dicarboxylic acid that consists of glutaric acid bearing an oxo substituent at position 2. It is an intermediate metabolite in Krebs cycle. tmpxe7fu0cj_hp_relaxed.owl 2-Ketoglutaric acid|alpha-Ketoglutaric acid|alpha-ketoglutaric acid|2-oxopentanedioic acid|Oxoglutaric acid 0 C5H6O5 InChI=1S/C5H6O5/c6-3(5(9)10)1-2-4(7)8/h1-2H2,(H,7,8)(H,9,10) KPGXRSRHYNQIFN-UHFFFAOYSA-N 146.09810 146.02152 OC(=O)CCC(=O)C(O)=O Gmelin:602480|PMID:20200292|PMID:20636327|KNApSAcK:C00000769|DrugBank:DB02926|KEGG:C00026|PMID:21964641|CAS:328-50-7|PDBeChem:AKG|PMID:17439666|Beilstein:1705689|PMID:18990406|Wikipedia:Alpha-Ketoglutaric_acid|PMID:20155414|MetaCyc:2-KETOGLUTARATE|Reaxys:1705689|PMID:20583149|HMDB:HMDB0000208 CHEBI:40661|CHEBI:19749|CHEBI:1253 chebi_ontology owl:Class CHEBI:30916 biolink:NamedThing 2-oxoglutarate(1-) A dicarboxylic acid monoanion resulting from selective deprotonation of the 1-carboxy group of 2-oxoglutaric acid. tmpxe7fu0cj_hp_relaxed.owl 4-carboxy-2-oxobutanoate|2-ketoglutarate -1 C5H5O5 InChI=1S/C5H6O5/c6-3(5(9)10)1-2-4(7)8/h1-2H2,(H,7,8)(H,9,10)/p-1 KPGXRSRHYNQIFN-UHFFFAOYSA-M 145.09020 145.01425 OC(=O)CCC(=O)C([O-])=O Beilstein:4132418|Reaxys:4132418|Gmelin:2159365 chebi_ontology owl:Class GO:0032042 biolink:NamedThing mitochondrial DNA metabolic process The chemical reactions and pathways involving mitochondrial DNA. tmpxe7fu0cj_hp_relaxed.owl mtDNA metabolic process|mtDNA metabolism|mitochondrial DNA metabolism biological_process owl:Class GO:0000002 biolink:NamedThing mitochondrial genome maintenance The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0022402 biolink:NamedThing cell cycle process The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:18243 biolink:NamedThing dopamine Catechol in which the hydrogen at position 4 is substituted by a 2-aminoethyl group. tmpxe7fu0cj_hp_relaxed.owl 2-(3,4-Dihydroxyphenyl)ethylamine|dopamine|4-(2-aminoethyl)catechol|4-(2-aminoethyl)-1,2-benzenediol|4-(2-aminoethyl)benzene-1,2-diol|4-(2-Aminoethyl)-1,2-benzenediol|dopamina|Dopamine|Hydroxytyramin|4-(2-Aminoethyl)benzene-1,2-diol|Deoxyepinephrine|4-(2-aminoethyl)pyrocatechol|dopaminum|2-(3,4-dihydroxyphenyl)ethylamine|3-Hydroxytyramine|3,4-Dihydroxyphenethylamine 0 C8H11NO2 InChI=1S/C8H11NO2/c9-4-3-6-1-2-7(10)8(11)5-6/h1-2,5,10-11H,3-4,9H2 VYFYYTLLBUKUHU-UHFFFAOYSA-N 153.17840 153.07898 NCCc1ccc(O)c(O)c1 HMDB:HMDB0000073|KEGG:C03758|Reaxys:1072822|KEGG:D07870|CAS:51-61-6|Wikipedia:Dopamine|MetaCyc:DOPAMINE|KNApSAcK:C00001408|PMID:10629745|PMID:11149432|PMID:9422813|LINCS:LSM-4630|Drug_Central:947|DrugBank:DB00988 CHEBI:11695|CHEBI:43686|CHEBI:1764|CHEBI:23886|CHEBI:11930|CHEBI:14203 chebi_ontology owl:Class CHEBI:48560 biolink:NamedThing dopaminergic agent A drug used for its effects on dopamine receptors, on the life cycle of dopamine, or on the survival of dopaminergic neurons. tmpxe7fu0cj_hp_relaxed.owl dopamine agent|dopamine drug|dopamine agents|dopaminergic agents|dopamine drugs chebi_ontology owl:Class N583a4f900ad840248e7f04d8749a90b4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003585 biolink:NamedThing dermis connective tissue A portion of connective tissue that is part of a dermis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl textus connectivus of dermis|portion of connective tissue of dermis|dermis textus connectivus|connective tissue of dermis|dermis portion of connective tissue MA:0000799|EMAPA:36509 uberon owl:Class Nfd4d9fc410b145a9978ff4c48f40b3fc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:26082 biolink:NamedThing phosphorus molecular entity tmpxe7fu0cj_hp_relaxed.owl phosphorus molecular entities chebi_ontology owl:Class UBERON:5003635 biolink:NamedThing pedal digit 5 plus metapodial segment A subdivision of the autopod consisting of pedal digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl pedal digit 5 digitopodial subdivision|pedal digit V plus metapodial segment|pedal digit 5 ray|pedal digit 5|pedal digit 5 ( phalanges plus metapodial) plus soft tissue this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class UBERON:0004290 biolink:NamedThing dermomyotome The bilaminar epithelium formed from the myotome and dermatome. tmpxe7fu0cj_hp_relaxed.owl dermamyotome|dermomyotomes EHDAA2:0003259|ZFA:0001513|UMLS:C1511786|NCIT:C34140|AEO:0000214|FMA:295654|EMAPA:31109|AAO:0010572|VHOG:0000676|TAO:0001513 uberon owl:Class Portion of somites that gives rise to dermis and muscles.[AAO]|Epithelial sheet on the external surface of the somite that gives rise to trunk, muscle and dermis. Within the dermomyotome there is also a medio-lateral difference. The central region makes dermis, the mesenchymal connective tissue of the back skin. The medial region (closest to neural tube) makes epaxial muscle, and the lateral region (furthest from neural tube) makes hypaxial muscle[http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=eurekah&part=A66768].|Epithelial sheet on the external surface of the somite that gives rise to trunk, muscle and dermis.[TAO]|all but the sclerotome of a mesodermal somite; the primordium of skeletal muscle and, perhaps, of the dermis. Thus, representatives of the agnathan vertebrates, chondrichthyans, and sarcopterygians all have a layer of undifferentiated cells external to the embryonic myotome. In the amniotes, this external cell layer is the dermomyotome. The simplest interpretation of the similar position, morphology, and lack of myosin labeling is that a dermomyotome epithelium is a shared, ancestral vertebrate characteristic.[well established][VHOG] CHEBI:32529 biolink:NamedThing histidinate(1-) tmpxe7fu0cj_hp_relaxed.owl 2-amino-3-(1H-imidazol-4-yl)propanoate|hydrogen histidinate|histidinate(1-)|histidine anion -1 C6H8N3O2 InChI=1S/C6H9N3O2/c7-5(6(10)11)1-4-2-8-3-9-4/h2-3,5H,1,7H2,(H,8,9)(H,10,11)/p-1 HNDVDQJCIGZPNO-UHFFFAOYSA-M 154.14660 154.06220 NC(Cc1c[nH]cn1)C([O-])=O Gmelin:364417|Beilstein:3959092 chebi_ontology owl:Class CHEBI:32530 biolink:NamedThing histidinate(2-) tmpxe7fu0cj_hp_relaxed.owl histidinate|histidine dianion|2-amino-3-imidazol-1-id-4-ylpropanoate|histidinate(2-) -2 C6H7N3O2 InChI=1S/C6H9N3O2/c7-5(6(10)11)1-4-2-8-3-9-4/h2-3,5H,1,7H2,(H2,8,9,10,11)/p-2 TWRZMXZXJKNOLO-UHFFFAOYSA-L 153.13880 153.05492 NC(Cc1c[n-]cn1)C([O-])=O chebi_ontology owl:Class N52f2ac4d583e443e8c588c3b97489927 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001795 biolink:NamedThing inner plexiform layer of retina Cytoarchitectural layer of the retina that is made up of a dense reticulum of fibrils formed by interlaced dendrites of retinal ganglion cells and cells of the inner nuclear layer (adapted from Wikipedia). tmpxe7fu0cj_hp_relaxed.owl retinal internal plexiform layer|stratum plexiforme internum retinae|stratum plexiforme internum|internal plexiform layer of retina|retina, inner plexiform layer|retina inner plexiform layer|inner plexiform layer|retinal inner plexiform layer|IPL|stratum plexifome internum NCIT:C32809|NLXANAT:1005032|ZFA:0001329|BTO:0003175|BAMS:Ripl|FMA:58704|MA:0001312|XAO:0003225|VHOG:0001168|EMAPA:35741|UMLS:C0229221|NLX:20558|TAO:0001329 http://upload.wikimedia.org/wikipedia/commons/5/55/Gray881.png uberon owl:Class The inner plexiform layer (IPL) is positioned between the INL and the ganglion cell layer and contains the dendrites of RGCs and processes of bipolar and amacrine cells[GO][GO:0010842].|The layer within the retina where the bipolar cells synapse with the dendrites of the ganglion cells.[TAO] (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The outer layer of the optic cup becomes the pigment layer of the retina, whereas the inner layer differentiates into the photoreceptive cells and neuronal layers of the retina.[well established][VHOG] http://neurolex.org/wiki/Nlx_anat_1005032 appears to be retired GO:0030425 biolink:NamedThing dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. tmpxe7fu0cj_hp_relaxed.owl NIF_Subcellular:sao1211023249|Wikipedia:Dendrite cellular_component owl:Class GO:1904831 biolink:NamedThing positive regulation of aortic smooth muscle cell differentiation Any process that activates or increases the frequency, rate or extent of aortic smooth muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of aortic smooth muscle cell differentiation|upregulation of aortic smooth muscle cell differentiation|up regulation of aortic smooth muscle cell differentiation|activation of aortic smooth muscle cell differentiation rph 2015-11-24T10:20:54Z biological_process owl:Class GO:0004035 biolink:NamedThing alkaline phosphatase activity Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. tmpxe7fu0cj_hp_relaxed.owl phosphomonoesterase activity|orthophosphoric-monoester phosphohydrolase (alkaline optimum)|alkaline phosphohydrolase activity|glycerophosphatase activity|alkaline phosphomonoesterase activity|alkaline phenyl phosphatase activity|phosphate-monoester phosphohydrolase (alkaline optimum) Reactome:R-HSA-8878787|EC:3.1.3.1|MetaCyc:ALKAPHOSPHA-RXN molecular_function owl:Class HP:0100795 biolink:NamedThing Abnormally straight spine The absence of the normal curvature of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl Abnormally straight spine UMLS:C4021969 doelkens 2011-06-08T03:52:57Z human_phenotype owl:Class Nb3e40c28828246b79e225de5263577d9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0012001 biolink:NamedThing neuron of the forebrain A CNS neuron of the forebrain. tmpxe7fu0cj_hp_relaxed.owl forebrain neuron tberardini cell owl:Class HP:0000457 biolink:NamedThing Depressed nasal ridge Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. tmpxe7fu0cj_hp_relaxed.owl Depressed dorsum of nose|Flat nose|Retruded nasal ridge|Depressed nasal dorsum|Flat dorsum of nose|Recessed nasal ridge|Retruded dorsum of nose|Retruded nasal dorsum|Flat nasal dorsum|Recessed dorsum of nose|Recessed nasal dorsum UMLS:C1842876 The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately. human_phenotype owl:Class N683cd7a6197a4844a103897084115454 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0098643 biolink:NamedThing banded collagen fibril A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands). tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class UBERON:0006440 biolink:NamedThing os clitoris The ossified region of endochondral and membranous bone located in the clitoris of most mammals except humans; it is homologous to the penile bone (aka as baculum, penis bone or os penis) in male mammals. tmpxe7fu0cj_hp_relaxed.owl baubellum|os clitoridis|clitoral bone|clitoris bone MA:0000387|EMAPA:30823 uberon owl:Class HP:0025015 biolink:NamedThing Abnormal vascular morphology tmpxe7fu0cj_hp_relaxed.owl 2016-08-12 11:24:56+00:00 HPO:probinson owl:Class N8e4236f4682b4971b399e913b76f28e5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0031242 biolink:NamedThing Decreased circulating chylomicron concentration Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. tmpxe7fu0cj_hp_relaxed.owl Hypochylomicronemia|Decreased circulating chylomicron levels 2017-08-08 11:26:34+00:00 peter owl:Class Nf06f99c782ce411ca25991369dcaf2d6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009298 biolink:NamedThing Aplasia of the proximal phalanx of the 4th finger Absence of the proximal phalanx of the ring (4th) finger. tmpxe7fu0cj_hp_relaxed.owl Absent innermost ring finger bone UMLS:C4024460 doelkens 2009-01-08T04:22:16Z human_phenotype owl:Class Nc7ec322ce93e4713b7eb7b4d71294546 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003648 biolink:NamedThing Lacticaciduria An increased concentration of lactic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine lactic acid levels|Increased urine lactate UMLS:C4025585 owl:Class N7c3ccaf63bc94840bc8b0bc1ec6bf307 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000217 biolink:NamedThing Xerostomia Dryness of the mouth due to salivary gland dysfunction. tmpxe7fu0cj_hp_relaxed.owl Reduced salivation|Dry mouth|Dry mouth syndrome|Decreased salivary flow SNOMEDCT_US:300268000|SNOMEDCT_US:56893005|UMLS:C0043352|SNOMEDCT_US:87715008|MSH:D014987 HP:0100756|HP:0002709 human_phenotype owl:Class N622523fd16de4e38b74bb14a216bb6ba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014704 biolink:NamedThing pleuroperitoneal canal lumen An anatomical space that is enclosed by a pleuroperitoneal canal. tmpxe7fu0cj_hp_relaxed.owl pleuro-peritoneal canal cavity EMAPA:25034|EHDAA2:0004736 uberon owl:Class UBERON:0006279 biolink:NamedThing pleuroperitoneal canal Each of the canals that links the peritoneal cavity and the caudal part of a pleural cavity. tmpxe7fu0cj_hp_relaxed.owl pleuroperitoneal channel EMAPA:17704|VHOG:0001505|EHDAA:4128|EHDAA2:0001481|EMAPA:17707|SCTID:361413002 uberon owl:Class Each of the canal that links the peritoneal cavity and the caudal part of a pleural cavity. [ISBN:0124020607][VHOG] HP:0410197 biolink:NamedThing Increased uridine diphosphate glucose-4-epimerase level in red blood cells An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. tmpxe7fu0cj_hp_relaxed.owl Increased UDP-glucose 4-epimerase level in red blood cells|Increased UDP-glucose 4-epimerase level in RBCs 2018-05-21 18:24:12+00:00 owl:Class N851e9588402548f58fa6d52e80f5f40c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:18376 biolink:NamedThing dermatan sulfate Any of a group of glycosaminoglycans with repeating units consisting of variously sulfated beta1->4-linked L-iduronyl-(alpha1->3)-N-acetyl-D-galactosamine units. tmpxe7fu0cj_hp_relaxed.owl Dermatan L-iduronate|beta-Heparin|Chondroitin sulfate B H2O.(C14H20NO13S)n KEGG:C00426|CAS:24967-94-0|Beilstein:8390617 CHEBI:23644|CHEBI:4440|CHEBI:14127 chebi_ontology owl:Class NCBITaxon:8287 biolink:NamedThing Sarcopterygii tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0051890 biolink:NamedThing regulation of cardioblast differentiation Any process that modulates the frequency, rate or extent of cardioblast differentiation, the process in which a relatively unspecialized mesodermal cell acquires the specialized structural and/or functional features of a cardioblast. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:59905 biolink:NamedThing dopaminium(1+) An ammonium ion that is the conjugate acid of dopamine; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl 2-(3,4-dihydroxyphenyl)ethanaminium|dopaminium cation|dopamine|2-(3,4-dihydroxyphenyl)ethan-1-aminium +1 C8H12NO2 InChI=1S/C8H11NO2/c9-4-3-6-1-2-7(10)8(11)5-6/h1-2,5,10-11H,3-4,9H2/p+1 VYFYYTLLBUKUHU-UHFFFAOYSA-O 154.18640 154.08626 [NH3+]CCc1ccc(O)c(O)c1 Gmelin:328863 chebi_ontology owl:Class GO:1901681 biolink:NamedThing sulfur compound binding Binding to a sulfur compound. tmpxe7fu0cj_hp_relaxed.owl sulfur molecular entity binding pr 2012-11-26T20:45:23Z molecular_function owl:Class UBERON:0000402 biolink:NamedThing nasal vestibule The nasal vestibule is the most anterior part of the nasal cavity. It's enclosed by the cartilages of nose and lined by the same epithelium of the skin. The other part of the nasal cavity, which is lined by the respiratory epithelium, is called nasal cavity proper. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl vestibular part of nasal cavity|vestibulum nasi|vestibulum nasale BTO:0001761|FMA:59644|CALOHA:TS-0660 http://upload.wikimedia.org/wikipedia/commons/7/7c/Gray994.png uberon owl:Class UBERON:0035307 biolink:NamedThing branch of vertebral artery tmpxe7fu0cj_hp_relaxed.owl vertebral arterial branch NCIT:C33867|FMA:76259 uberon owl:Class UBERON:0001535 biolink:NamedThing vertebral artery The first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck. tmpxe7fu0cj_hp_relaxed.owl arteria vertebralis|vertebral arteries FMA:3956|EHDAA2:0002192|TAO:0005033|VHOG:0000263|EHDAA:5328|ZFA:0005033|NCIT:C12819|GAID:518|MA:0002077|MESH:D014711|OpenCyc:Mx4rvg_ir5wpEbGdrcN5Y29ycA|UMLS:C0042559|EMAPA:17314 The two vertebral arteries and the basilar artery are sometimes together called the vertebrobasilar system, which supplies blood to the posterior part of circle of Willis and anastomoses with blood supplied to the anterior part of the circle of Willis from the carotid arteries. [WP,unvetted] Vertebral:artery.png uberon owl:Class UBERON:0006242 biolink:NamedThing gall bladder primordium A sac-like cavity ventral to the liver, lying in the sub-mesodermal space and closed by a thin sheet of ectodermal cells, from which the future gall bladder develops. tmpxe7fu0cj_hp_relaxed.owl EHDAA:3047|XAO:0004205|EHDAA2:0000700|EMAPA:16713 uberon owl:Class HP:0009049 biolink:NamedThing Peroneal muscle atrophy Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius). tmpxe7fu0cj_hp_relaxed.owl Peroneal atrophy UMLS:C1389118 The peroneus muscles (longus, brevis, and tertius) originate on the fibula and insert on the metatarsals. HP:0008982|HP:0008939 human_phenotype owl:Class Nd9ed6c9b36904403b77f136f86922e80 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010598 biolink:NamedThing Abnormality of the proximal humeral epiphysis Any abnormality of the proximal epiphysis of the humerus. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the innermost long bone in upper arm UMLS:C4023775 sandra1 2009-10-22T06:40:29Z human_phenotype owl:Class N5d34e4c553ee4e2697d8f1a6b75fa91f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf7798ffe5dc44c3d88d834323ce3d486 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd1ed4bd17a294e55942deb052d0fd163 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100113 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the middle bone of the 2nd toe UMLS:C4022308 doelkens 2010-06-24T10:05:37Z human_phenotype owl:Class N5049f43b5f1d4d5eab3003da449cac95 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:30920 biolink:NamedThing 3-hydroxy-3-methylglutarate(1-) A dicarboxylic acid monoanion resulting from the removal of a proton from one of the carboxylic acid groups of 3-hydroxy-3-methylglutaric acid. tmpxe7fu0cj_hp_relaxed.owl 4-carboxy-3-hydroxy-3-methylbutanoate -1 C6H9O5 InChI=1S/C6H10O5/c1-6(11,2-4(7)8)3-5(9)10/h11H,2-3H2,1H3,(H,7,8)(H,9,10)/p-1 NPOAOTPXWNWTSH-UHFFFAOYSA-M 161.13270 161.04555 CC(O)(CC(O)=O)CC([O-])=O chebi_ontology owl:Class UBERON:0016480 biolink:NamedThing interlobular stroma of liver tmpxe7fu0cj_hp_relaxed.owl FMA:17525 uberon owl:Class UBERON:0004647 biolink:NamedThing liver lobule The polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein. tmpxe7fu0cj_hp_relaxed.owl lobuli hepatis|lobules of liver|hepatic lobule|lobuli hepatici|lobulus hepaticus FMA:14471|UMLS:C0227518|NCIT:C32732|EMAPA:35499|MA:0002494 should not be confused with the anatomic lobes of the liver (caudate lobe, quadrate lobe, left lobe, and right lobe), or any of the functional lobe classification systems.[WP] uberon owl:Class HP:0011271 biolink:NamedThing Prominent tragus Increase posterolateral protrusion of the tragus. tmpxe7fu0cj_hp_relaxed.owl Hypertrophic tragus|Enlarged tragus|Tragus, prominent|Hyperplastic tragus|Large tragus UMLS:C4021171 2011-12-18T07:59:22Z owl:Class N2db0ee2c4dd3468ba8ef6f8d15c98ea8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:78631 biolink:NamedThing chroman-6-ol A chromanol that is chromane in which the hydrogen at position 6 is replaced by a hydroxy group. tmpxe7fu0cj_hp_relaxed.owl 3,4-dihydrobenzopyran-6-ol|3,4-dihydro-2H-chromen-6-ol 0 C9H10O2 InChI=1S/C9H10O2/c10-8-3-4-9-7(6-8)2-1-5-11-9/h3-4,6,10H,1-2,5H2 GZCJJOLJSBCUNR-UHFFFAOYSA-N 150.17450 150.06808 Oc1ccc2OCCCc2c1 Reaxys:1283166 chebi_ontology owl:Class CHEBI:33224 biolink:NamedThing chromane A benzopyran consisting of a pyran ring having a benzene ring ortho-fused across positions 2 and 3. tmpxe7fu0cj_hp_relaxed.owl 3,4-dihydrobenzo[b]pyran|3,4-dihydro-2H-chromene|Chroman|chromane|3,4-dihydro-2H-1-benzopyran 0 C9H10O InChI=1S/C9H10O/c1-2-6-9-8(4-1)5-3-7-10-9/h1-2,4,6H,3,5,7H2 VZWXIQHBIQLMPN-UHFFFAOYSA-N 134.17510 134.07316 C1COc2ccccc2C1 Beilstein:116150|CAS:493-08-3|Reaxys:116150|Gmelin:122981 chebi_ontology owl:Class HP:0100221 biolink:NamedThing Small epiphysis of the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Small end part of the middle bone of the pinky toe|Small end part of the middle bone of the little toe|Small end part of the middle bone of the pinkie toe UMLS:C4022200 doelkens 2010-06-24T05:04:00Z human_phenotype owl:Class N339b4a141a7e4a6fa514d80fd80718c3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006715 biolink:NamedThing radio-ulna Paired, long bones of endochondral origin formed by the fusion of the radius and ulna. tmpxe7fu0cj_hp_relaxed.owl radioulna|radius+ulna|radius-ulna XAO:0003209|AAO:0000901 uberon owl:Class HP:0012515 biolink:NamedThing Hip flexor weakness Reduced ability to flex the femur, that is, to pull the knee upward. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3279725 Hip flexion is mediated by multiple muscles including the iliopsoas, the rectus femoris, the sartorius, and several muscles from the medial compartment of thigh. peter 2013-12-08T09:14:34Z human_phenotype owl:Class Na7dd90a7e45040388047ae71d8d11469 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc1fe9d00d8f54dbabbd6b02449d20d47 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1905955 biolink:NamedThing negative regulation of endothelial tube morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of endothelial tube morphogenesis. tmpxe7fu0cj_hp_relaxed.owl downregulation of endothelial tube morphogenesis|down regulation of endothelial tube morphogenesis|inhibition of endothelial tube morphogenesis|down-regulation of endothelial tube morphogenesis rph 2017-02-21T15:17:31Z biological_process owl:Class GO:0061343 biolink:NamedThing cell adhesion involved in heart morphogenesis The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules that contributes to the shaping of the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2010-09-29T11:34:06Z biological_process owl:Class GO:0007399 biolink:NamedThing nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. tmpxe7fu0cj_hp_relaxed.owl pan-neural process biological_process owl:Class UBERON:0009200 biolink:NamedThing limb epidermis The limb epidermis is the outer epithelial layer of the limb, it is a complex stratified squamous epithelium. tmpxe7fu0cj_hp_relaxed.owl EMAPA:32728 uberon owl:Class UBERON:0010565 biolink:NamedThing manual digit 1 metacarpus pre-cartilage condensation A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 1 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl finger 1 metacarpus pre-cartilage condensation|metacarpal 1 pre-cartilage condensation|manual digit I metacarpus pre-cartilage condensation|fore limb digit 1 metacarpus pre-cartilage condensation|hand digit 1 metacarpus pre-cartilage condensation EMAPA:17714|EHDAA2:0000515 uberon owl:Class CHEBI:606564 biolink:NamedThing prostaglandin E2(1-) The conjugate base of prostaglandin E2; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl prostaglandin E2 anion|(5Z,13E,15S)-11alpha,15-dihydroxy-9-oxoprosta-5,13-dien-1-oate|prostaglandin E2 -1 C20H31O5 InChI=1S/C20H32O5/c1-2-3-6-9-15(21)12-13-17-16(18(22)14-19(17)23)10-7-4-5-8-11-20(24)25/h4,7,12-13,15-17,19,21,23H,2-3,5-6,8-11,14H2,1H3,(H,24,25)/p-1/b7-4-,13-12+/t15-,16+,17+,19+/m0/s1 XEYBRNLFEZDVAW-ARSRFYASSA-M 351.45710 351.21770 CCCCC[C@H](O)\C=C\[C@H]1[C@H](O)CC(=O)[C@@H]1C\C=C/CCCC([O-])=O MetaCyc:5Z13E-15S-1115-DIHYDROXY-9-OXOPROS|Beilstein:8364130 chebi_ontology owl:Class CHEBI:36063 biolink:NamedThing oxytocic A drug that stimulates contraction of the myometrium. Oxytocics are used to induce labour, obstetric at term, to prevent or control postpartum or postabortion haemorrhage, and to assess foetal status in high risk pregnancies. They may also be used alone or with other drugs to induce abortions (abortifacients). tmpxe7fu0cj_hp_relaxed.owl oxytocic|oxytocic drugs|uterine stimulants|oxytocic agents chebi_ontology owl:Class Nac212c37dcd14d3a82ad1a25e7624fb9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035820 biolink:NamedThing peritoneal sac A serous sac that is the aggregate of the peritoneum and the peritoneal cavity, located in the abdominal cavity. tmpxe7fu0cj_hp_relaxed.owl peritoneal component MA:0000054|FMA:9908|EMAPA:16137 uberon owl:Class UBERON:0010684 biolink:NamedThing pedal digit 5 phalanx cartilage element A cartilage element that is part of a pedal digit 5 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl pedal digit V phalanx cartilage element|foot digit 5 phalanx cartilage element|hind limb digit 5 phalanx cartilage condensation EMAPA:18127 uberon owl:Class HP:0001551 biolink:NamedThing Abnormal umbilicus morphology An abnormality of the structure or appearance of the umbilicus. tmpxe7fu0cj_hp_relaxed.owl Abnormal belly button|Abnormal navel|Abnormal umbilicus UMLS:C1849338 The umbilicus is also known as the belly button or the navel. human_phenotype owl:Class Ndc55c6754e2745e89a6cf53f7e81429e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:1000272 biolink:NamedThing lung secretory cell tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0040254 biolink:NamedThing Decreased size of the clitoris tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280694 owl:Class N1dd654568de54672a5ee1132ab14e660 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:7500046 biolink:NamedThing proximal-most point of head of femur The proximal-most point of the head of a femur. tmpxe7fu0cj_hp_relaxed.owl https://orcid.org/0000-0003-2699-3066 uberon owl:Class N76a380c898274d739d8852b944ecb3b4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008829 biolink:NamedThing Delayed femoral head ossification Delayed ossification of the femoral head. tmpxe7fu0cj_hp_relaxed.owl Delayed maturation of the head of the thigh bone UMLS:C4280410|UMLS:C1846446 human_phenotype owl:Class N17efcfb46f6448bea9de2a61d8ceda26 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002437 biolink:NamedThing cerebral hemisphere white matter White matter that is part of a cerebral hemisphere. tmpxe7fu0cj_hp_relaxed.owl cerebral white matter|hemisphere white matter|substantia medullaris cerebri|cerebral hemisphere white matter|white matter structure of cerebral hemisphere|region of cerebral white matter FMA:61822|FMA:256174|MA:0000945|BIRNLEX:711|NCIT:C49347|BAMS:cw|BTO:0000236|FMA:241998|CALOHA:TS-2362|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=189|UMLS:C0152295|EMAPA:35237|SCTID:361691006|UMLS:C1284115 sometimes the term 'cerebral white matter' may be used generically but here is refers specifically to the white matter in a hemisphere uberon owl:Class The BTO class is inconsistent as it is part of the brain and spinal cord. UBERON:2002260 biolink:NamedThing premaxillary-maxillary joint Joint that articulates the premaxilla and maxilla. Premaxillary-maxillary joint is paired. tmpxe7fu0cj_hp_relaxed.owl teleost_anatomy_curators uberon owl:Class This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon UBERON:0009472 biolink:NamedThing axilla The axilla is the area directly under the joint where the forelimb connects to the shoulder. tmpxe7fu0cj_hp_relaxed.owl axillary region|armpits|axilla|regio axillaris|oxter|underarm|arm pit|armpit|axillae EFO:0001395|CALOHA:TS-2208|UMLS:C0004454|FMA:24864|MESH:D001365|NCIT:C12674|galen:Axilla http://upload.wikimedia.org/wikipedia/commons/f/f2/Gray411.png uberon owl:Class axillary N8427c4614eb943ebbc5573d3752e020d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001997 biolink:NamedThing decreased amount An amount which is relatively low. tmpxe7fu0cj_hp_relaxed.owl present in fewer numbers in organism|decreased number|reduced|subnumerary|decreased PATO:0000419|PATO:0000468 quality owl:Class CHEBI:132939 biolink:NamedThing ethylmalonate(2-) A dicarboxylic acid dianion resulting from the removal of a proton from both of the carboxylic acid groups of ethylmalonic acid. tmpxe7fu0cj_hp_relaxed.owl ethylpropanedioate -2 C5H6O4 InChI=1S/C5H8O4/c1-2-3(4(6)7)5(8)9/h3H,2H2,1H3,(H,6,7)(H,8,9)/p-2 UKFXDFUAPNAMPJ-UHFFFAOYSA-L 130.099 130.02771 [O-]C(C(C(=O)[O-])CC)=O Reaxys:3904851 chebi_ontology owl:Class HP:0100514 biolink:NamedThing Abnormality of vitamin E metabolism tmpxe7fu0cj_hp_relaxed.owl Abnormality of vitamin E metabolism UMLS:C4022034 doelkens 2010-12-17T06:20:30Z human_phenotype owl:Class Nb61cd18a46a04335ace1ae257f606035 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:30772 biolink:NamedThing butyric acid A straight-chain saturated fatty acid that is butane in which one of the terminal methyl groups has been oxidised to a carboxy group. tmpxe7fu0cj_hp_relaxed.owl propylformic acid|acide butyrique|n-butanoic acid|BUTANOIC ACID|butanoic acid|C4:0|1-propanecarboxylic acid|Butanoic acid|ethylacetic acid|acide butanoique|butanic acid|butoic acid|CH3-[CH2]2-COOH|Butyric acid|butyric acid|4:0|Butanoate|1-butanoic acid|n-butyric acid|propanecarboxylic acid|Buttersaeure|1-butyric acid 0 C4H8O2 InChI=1S/C4H8O2/c1-2-3-4(5)6/h2-3H2,1H3,(H,5,6) FERIUCNNQQJTOY-UHFFFAOYSA-N 88.10510 88.05243 CCCC(O)=O Reaxys:906770|PMID:15810631|MetaCyc:BUTYRIC_ACID|PMID:11208715|Wikipedia:Butyric_acid|Beilstein:906770|PMID:22466881|PMID:15938880|PMID:11201044|PMID:11305323|CAS:107-92-6|PMID:22339023|PMID:22038864|DrugBank:DB03568|PMID:1542095|PMID:11238216|PMID:19703412|PMID:22194341|PMID:21699495|KNApSAcK:C00001180|PMID:13678314|HMDB:HMDB0000039|PMID:10736622|Gmelin:26242|PMID:10956204|PMID:22322557|PMID:15809727|PDBeChem:BUA|PMID:19318247|PMID:12068484|PMID:14962641|PMID:19366864|LIPID_MAPS_instance:LMFA01010004|KEGG:C00246 CHEBI:41208|CHEBI:3234|CHEBI:113450|CHEBI:22948 chebi_ontology owl:Class N8cfb092c3ab54cfdaa6b7a3d7d6dff39 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011093 biolink:NamedThing Molarization of premolar Increased size and molar morphology of premolar tooth. tmpxe7fu0cj_hp_relaxed.owl Increased size of premolar|Molar shape of premolar|Molarization of bicuspid|Molar shape of bicuspid|Enlarged premolar UMLS:C4280334|UMLS:C1404304 peter 2011-03-11T02:32:39Z human_phenotype owl:Class Nf71a4849b0e842929ed7b6328c4018db biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004649 biolink:NamedThing sphenoid bone pterygoid process The process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes. tmpxe7fu0cj_hp_relaxed.owl pterygoid process|processus pterygoideus ossis sphenoidalis|pterygoid process of sphenoid|pterygoid process of sphenoid bone|pterygoid processes|processus pterygoideus|pterygoid plate|pterygoid processus AAO:0010086|FMA:54682|MA:0002774 http://upload.wikimedia.org/wikipedia/commons/3/35/Gray145.png TODO - check AAO:0000521-pterygoid and MA:0001471-pterygoid bone. MA also has 'inner plate of pterygoid process' as a syn for MA:0001471, FMA has lateral/medial plates. Seems likely inner = lateral (see MP:0004452). uberon owl:Class Process that projects from posterior margin of commissure into subocular space.[AAO] relationship loss: part_of anterior quadratocranial commissure (AAO:0010061)[AAO] CHEBI:33893 biolink:NamedThing reagent A substance used in a chemical reaction to detect, measure, examine, or produce other substances. tmpxe7fu0cj_hp_relaxed.owl reactivo|reagents|reagent|reactif chebi_ontology owl:Class HP:0003349 biolink:NamedThing Low cholesterol esterification rate A reduction in the rate of cholesterol esterification. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843371 Cholesterol esterification convers free cholesterol to cholesteryl esters between the carboxylate group of a fatty acid and the hydroxyl group of cholesterol. Esterification allows more cholesterol to be packaged into the interior of lipoproteins. Cholesterol esterification rates can be measured in skin fibroblasts using for instance a non-lipoprotein [3H]cholesterol source. human_phenotype owl:Class Ne036c268dfa5447fbbd89288b3cf6de8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndb598835fb9945eda8bb87bb88aba848 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne7fea816d2fd4fbb8366574c4f1050e1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0005794 biolink:NamedThing Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. tmpxe7fu0cj_hp_relaxed.owl Golgi ribbon|Golgi complex|Golgi Wikipedia:Golgi_apparatus|NIF_Subcellular:sao451912436 Note that the Golgi apparatus can be located in various places in the cytoplasm. In plants and lower animal cells, the Golgi apparatus exists as many copies of discrete stacks dispersed throughout the cytoplasm, while the Golgi apparatus of interphase mammalian cells is a juxtanuclear, often pericentriolar reticulum, where the discrete Golgi stacks are stitched together to form a compact and interconnected ribbon, sometimes called the Golgi ribbon. cellular_component owl:Class HP:0010509 biolink:NamedThing Aplasia of the tarsal bones Absence of the tarsal bones. tmpxe7fu0cj_hp_relaxed.owl Absent ankle bone|Absent tarsals UMLS:C4021257 peter 2009-09-19T10:05:13Z human_phenotype owl:Class Nd8135228413a431cab21805170c05c97 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003999 biolink:NamedThing hyoid bone body The main curve of the hyoid bone, from which the horns extend. tmpxe7fu0cj_hp_relaxed.owl hyoid bone base|corpus ossis hyoidei|basihyal bone|body of hyoid bone|basihyoid bone|base of hyoid bone|body of hyoid EMAPA:18653|MA:0002958|FMA:59495 http://upload.wikimedia.org/wikipedia/commons/1/1f/Gray186.png uberon owl:Class CL:0000128 biolink:NamedThing oligodendrocyte A class of large neuroglial (macroglial) cells in the central nervous system. Form the insulating myelin sheath of axons in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl OLs|oligodendroglia BTO:0000962|CALOHA:TS-0709|FMA:54540 Oligodendrocytes are reportedly MDP-positive and CD4-negative. cell owl:Class HP:0012882 biolink:NamedThing Hyperplastic labia majora Overgrowth of the outer labia. tmpxe7fu0cj_hp_relaxed.owl Hyperplasia of labia majora|Enlarged labia majora UMLS:C4021060 hecht 2014-06-11T07:54:42Z human_phenotype owl:Class N30e6d8cece304d9d8e7baf9f064c313f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002152 biolink:NamedThing Hyperproteinemia An increased concentration of proteins in the blood. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:37064009|UMLS:C0267988 human_phenotype owl:Class N61a8f3479d1f442ea8ff0c0218fe9962 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0051640 biolink:NamedThing organelle localization Any process in which an organelle is transported to, and/or maintained in, a specific location. tmpxe7fu0cj_hp_relaxed.owl organelle localisation|establishment and maintenance of organelle localization biological_process owl:Class HP:0006758 biolink:NamedThing Malignant genitourinary tract tumor The presence of a malignant neoplasm of the genital system. tmpxe7fu0cj_hp_relaxed.owl Malignant GU tract tumor|Malignant genitourinary tract tumour|Malignant GU tract tumour UMLS:C1834728 human_phenotype owl:Class N0be2e8d082564a91990ea6db955508be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003911 biolink:NamedThing choroid plexus epithelium The epithelial component of the choroid plexus. Consists of cuboidal epithelial cells surrounding a core of capillaries and loose connective tissue. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of chorioid plexus of cerebral hemisphere|epithelial tissue of choroid plexus|choroid plexus epithelial tissue|epithelium of choroid plexus EMAPA:36608|FMA:242811|UMLS:C1516506|NCIT:C42079|MA:0000824 uberon owl:Class The CP epithelial layer is continuous with the ependymal cell layer that lines the ventricles, but unlike the ependyma, the epithelial layer has tight gap junctions between the cells on the side facing the ventricle (apical surface). These gap junctions prevent the majority of substances from crossing the cell layer into the CSF; thus the CP acts as a blood-CSF barrier UBERON:0000107 biolink:NamedThing cleavage stage The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. tmpxe7fu0cj_hp_relaxed.owl BILS:0000107|XAO:1000004|FBdv:00000054|ZFS:0000046|BilaDO:0000006|OGES:000020|MESH:A16.254.270|Wikipedia:Cleavage_(embryo)|EFO:0001290|OGES:000015|PdumDv:0000200|MmusDv:0000004 uberon owl:Class UBERON:0001771 biolink:NamedThing pupil The central circular aperture of the iris through which light rays enter the eye. tmpxe7fu0cj_hp_relaxed.owl pupils MA:0001292|GAID:918|VHOG:0000116|MESH:D011680|XAO:0000283|UMLS:C0034121|NCIT:C33429|ZFA:0001283|AAO:0010351|OpenCyc:Mx4rvViBr5wpEbGdrcN5Y29ycA|FMA:58252|TAO:0001283 Eye:iris.jpg uberon owl:Class The circular orifice in the centre of the iris, through which light enters into the eye. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG] UBERON:0001769 biolink:NamedThing iris The adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye. tmpxe7fu0cj_hp_relaxed.owl irises|irides|anterior uvea CALOHA:TS-0491|MESH:D007498|EMAPA:19154|GAID:917|Wikipedia:Iris_(anatomy)|BTO:0000653|UMLS:C0022077|AAO:0010347|NCIT:C12737|XAO:0000185|TAO:0001238|SCTID:181164000|EFO:0004245|FMA:58235|OpenCyc:Mx4rvVjbppwpEbGdrcN5Y29ycA|MA:0000273|EV:0100345|ZFA:0001238|VHOG:0000101 uberon owl:Class The opaque muscular contractile diaphragm suspended in the aqueous humour in front of the lens of the eye. The organ is perforated by the pupil and continues peripherally with the ciliary body. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG] iridial The avian iris and ciliary body undergoes a transition from smooth-to-striated muscle during embryonic development [DOI:dx.doi.org/10.1006/dbio.1998.9019] CHEBI:45696 biolink:NamedThing hydrogensulfate tmpxe7fu0cj_hp_relaxed.owl hydroxidotrioxidosulfate(1-)|hydrogensulfate(1-)|hydrogen(tetraoxidosulfate)(1-)|hydrogentetraoxosulfate(VI)|HSO4(-)|hydrogentetraoxosulfate(1-)|hydrogensulfate|[SO3(OH)](-)|HYDROGEN SULFATE -1 HO4S InChI=1S/H2O4S/c1-5(2,3)4/h(H2,1,2,3,4)/p-1 QAOWNCQODCNURD-UHFFFAOYSA-M 97.07154 96.96010 [H]OS([O-])(=O)=O Gmelin:2121 CHEBI:45693|CHEBI:29199 chebi_ontology owl:Class UBERON:0012468 biolink:NamedThing anal tooth Triangular calcified papillae (often five) placed radially around the anus of some Holothuriidae. tmpxe7fu0cj_hp_relaxed.owl calcified anal papilla|anal teeth|cloacal tooth|perianal tooth uberon owl:Class PR:P06332 biolink:NamedThing T-cell surface glycoprotein CD4 (mouse) A CD4 molecule that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl mCD4|CD4 (mouse)|Cd4|T-cell surface antigen T4/Leu-3 (mouse)|T-cell differentiation antigen L3T4 (mouse) UniProtKB:P06332 Category=organism-gene. protein owl:Class GO:0061951 biolink:NamedThing establishment of protein localization to plasma membrane The directed movement of a protein to a specific location in a plasma membrane. tmpxe7fu0cj_hp_relaxed.owl dph 2017-10-26T12:55:15Z biological_process owl:Class UBERON:0005219 biolink:NamedThing hindbrain subarachnoid space A subarachnoid space that is part of a hindbrain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl subarachnoid space hindbrain|subarachnoid space rhombencephalon EMAPA:18211|VHOG:0001303 uberon owl:Class Subarachnoid space that is part of the hindbrain. [Bgee_curator][VHOG] UBERON:0000006 biolink:NamedThing islet of Langerhans The clusters of hormone-producing cells that are scattered throughout the pancreas. tmpxe7fu0cj_hp_relaxed.owl pancreatic insula|islets of Langerhans|pancreatic islet|island of Langerhans|island of pancreas EV:0100130|MAT:0000076|FMA:16016|MESH:D007515|VHOG:0000646|EFO:0000856|AAO:0010406|GAID:324|CALOHA:TS-0741|UMLS:C0022131|NCIT:C12608|MIAA:0000076|XAO:0000159|EMAPA:32927|MA:0000127|BTO:0000991 http://upload.wikimedia.org/wikipedia/commons/9/99/Gray1105.png uberon owl:Class Anatomical structure which consists of glands developed from pancreatic ducts in the larvae and secrete insulin.[AAO] Mammals, birds, reptiles and amphibians have a pancreas with similar histology and mode of development, while in some fish, the islet cells are segregated as Brockmann bodies.[well established][VHOG] A primitive exocrine pancreas can be found in holocephalan cartilaginous fish; a pancreatic duct directly ending in the gut lumen is connected to a glandular structure made of exocrine cells and associated with cell islets, which comprises three different hormone-producing cell types: insulin, somatostatin and glucagon (Yui and Fujita, 1986) CL:0002067 biolink:NamedThing type A enteroendocrine cell An enteroendocrine cell that produces glucagon. tmpxe7fu0cj_hp_relaxed.owl FMA:62939 tmeehan 2010-09-10T10:48:54Z cell owl:Class UBERON:8410017 biolink:NamedThing left colic vein A portal vein that drains the descending colon. It is a tributary of the inferior mesenteric vein, and follows the path of its corresponding artery, the left colic artery. tmpxe7fu0cj_hp_relaxed.owl FMA:15394 http://orcid.org/0000-0002-2825-0621 uberon owl:Class UBERON:0001215 biolink:NamedThing inferior mesenteric vein A blood vessel that drains blood from the large intestine that usually terminates when reaching the splenic vein, which goes on to form the portal vein with the superior mesenteric vein (SMV). Anatomical variations include the IMV draining into the confluence of the SMV and splenic vein and the IMV draining in the SMV. The IMV lies to the right of the similarly name artery, the inferior mesenteric artery, which originates from the abdominal aorta. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl vena mesenterica inferior|lower mesenteric vein NCIT:C32782|FMA:15391|UMLS:C0226754|OpenCyc:Mx4rvcV53ZwpEbGdrcN5Y29ycA|VHOG:0001118|EMAPA:18642|EHDAA2:0000819|BTO:0002782|MA:0002178|EHDAA:8712 http://upload.wikimedia.org/wikipedia/commons/3/33/Gray591.png uberon owl:Class UBERON:0009500 biolink:NamedThing periotic mesenchyme Anatomical region that surrounds the otic vesicle. tmpxe7fu0cj_hp_relaxed.owl otocyst associated mesenchyme|periotic region|otocyst mesenchyme XAO:0004474|EMAPA:16670|EHDAA2:0001343 uberon owl:Class UBERON:0007160 biolink:NamedThing inferior petrosal sinus The inferior petrosal sinus, within the human head, is an area beneath the brain, which allows blood veins to span the area, from the center of the head downward. It drains from the cavernous sinus (beneath the brain) to the sigmoid sinuses above the internal jugular vein. tmpxe7fu0cj_hp_relaxed.owl sinus petrosal inferior EMAPA:19234|FMA:50770 uberon owl:Class CHEBI:30921 biolink:NamedThing glutarate(2-) A dicarboxylic acid dianion obtained by deprotonation of both the carboxy groups of glutaric acid. tmpxe7fu0cj_hp_relaxed.owl glutarate|pentanedioate -2 C5H6O4 InChI=1S/C5H8O4/c6-4(7)2-1-3-5(8)9/h1-3H2,(H,6,7)(H,8,9)/p-2 JFCQEDHGNNZCLN-UHFFFAOYSA-L 130.09874 130.02771 [O-]C(=O)CCCC([O-])=O Gmelin:240388|Beilstein:3904695|Reaxys:3904695 CHEBI:24327|CHEBI:14322 chebi_ontology owl:Class UBERON:0020550 biolink:NamedThing auricular blood vessel A blood vessel that supplies or drains an ear. tmpxe7fu0cj_hp_relaxed.owl MA:0001226|EMAPA:37386 uberon owl:Class CHEBI:17364 biolink:NamedThing D-aspartic acid The D-enantiomer of aspartic acid. tmpxe7fu0cj_hp_relaxed.owl (R)-2-aminobutanedioic acid|aspartic acid D-form|(R)-2-aminosuccinic acid|D-aspartic acid|DAS|D-Aspartic acid|D-Asparaginsaeure|(2R)-2-aminobutanedioic acid 0 C4H7NO4 InChI=1S/C4H7NO4/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H,6,7)(H,8,9)/t2-/m1/s1 CKLJMWTZIZZHCS-UWTATZPHSA-N 133.10270 133.03751 N[C@H](CC(O)=O)C(O)=O HMDB:HMDB0006483|KEGG:C00402|Beilstein:1723529|PMID:19860889|PMID:17407322|Gmelin:602084|PMID:17118457|CAS:1783-96-6|DrugBank:DB02655|PMID:18318836|PMID:11419736|PDBeChem:DAS|MetaCyc:CPD-302|Reaxys:1723529 CHEBI:20920|CHEBI:4108 chebi_ontology owl:Class CHEBI:27363 biolink:NamedThing zinc atom tmpxe7fu0cj_hp_relaxed.owl zinc|zincum|cinc|Zn2+|Zn|Zn(II)|Zink|30Zn 0 Zn InChI=1S/Zn HCHKCACWOHOZIP-UHFFFAOYSA-N 65.39000 63.92914 [Zn] PDBeChem:ZN|KEGG:C00038|WebElements:Zn|Gmelin:16321|CAS:7440-66-6 chebi_ontology owl:Class CHEBI:32879 biolink:NamedThing propane tmpxe7fu0cj_hp_relaxed.owl E944|Propan|CH3-CH2-CH3|propane 0 C3H8 InChI=1S/C3H8/c1-3-2/h3H2,1-2H3 ATUOYWHBWRKTHZ-UHFFFAOYSA-N 44.09562 44.06260 CCC Beilstein:1730718|CAS:74-98-6|Gmelin:25044 chebi_ontology owl:Class N10c05ffd5fa64ef5be565a90b8ce189f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010395 biolink:NamedThing lymph node primary follicle An unstimulated network of follicular dendritic cells and small resting B cells in the lymph node cortex. tmpxe7fu0cj_hp_relaxed.owl primary follicle of lymph node FMA:312350|EMAPA:35530|MA:0000743 uberon owl:Class Nc2d10f85bc914ecab542affd78850971 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb7f2384e153c4c61a073d1a9b02e0732 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7b748e5184754152b60a73101c7918c6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0044297 biolink:NamedThing cell body The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections. tmpxe7fu0cj_hp_relaxed.owl cell soma Wikipedia:Cell_body|FBbt:00005107|FMA:67301 Note that 'cell body' and 'cell soma' are not used in the literature for cells that lack projections, nor for some cells (e.g. yeast with mating projections) that do have projections. jl 2010-02-05T10:37:16Z cellular_component owl:Class N6ac2fa00935e40cd85ad719c7fad8f5c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N283d3c259ac549579b574d61f8f26492 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne9e507405c2d483db243c1c176844c6a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0200011 biolink:NamedThing Abnormal length of corpus callosum tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021903 sebastiankohler 2010-06-09T11:52:00Z human_phenotype owl:Class Nf794f413eabe457cbbaed5edf22c7331 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000362 biolink:NamedThing renal medulla The inner portion of the kidney consisting of the renal pyramids. tmpxe7fu0cj_hp_relaxed.owl medulla renalis|renal pyramids set|renal pyramids|medullary pyramids|renal marrow|renal medullae set|renal medullae|kidney medulla|medulla of kidney|pyramides renales EMAPA:19279|galen:MedullaOfKidney|BTO:0001167|NCIT:C12740|GAID:425|MESH:D007679|MA:0000373|CALOHA:TS-1157|UMLS:C0022664 Illu:kidney.jpg uberon owl:Class The renal medulla is split up into a number of sections, known as the renal pyramids. Blood enters into the kidney via the renal artery, which then splits up to form the arcuate arterioles. The arcuate arterioles each in turn branch into interlobular arterioles, which finally reach the glomeruli. At the glomerulus the blood reaches a highly disfavourable pressure gradient and a large exchange surface area, which forces the serum portion of the blood out of the vessel into the renal tubules. Flow continues through the renal tubules, including the proximal tubule, the Loop of Henle, and finally leaves the kidney by means of the collecting duct, leading to the renal ureter. The renal medulla contains the structures of the nephrons responsible for maintaining the salt and water balance of the blood. The renal medulla is hypertonic to the filtrate in the nephron and aids in the reabsorption of water UBERON:0010060 biolink:NamedThing pharyngeal opening of pharyngotympanic tube On the lateral wall of the nasal part of the pharynx is the pharyngeal opening of auditory tube (pharyngeal ostium), somewhat triangular in shape, and bounded behind by a firm prominence, the torus or cushion, caused by the medial end of the cartilage of the tube which elevates the mucous membrane. tmpxe7fu0cj_hp_relaxed.owl pharyngeal orifice of eustachian tube|pharyngeal opening of auditory tube|ostium pharyngeum tubae auditivae|pharyngeal ostium of pharyngotympanic tube|ostium pharyngeum tubae auditoriae|pharyngeal ostium of auditory tube|pharyngeal orifice of pharyngotympanic tube|pharyngeal tubal ostium|pharyngeal opening of eustachian tube|pharyngeal orifice of auditory tube|pharyngeal ostium of eustachian tube|pharyngeal ostium FMA:54979 http://upload.wikimedia.org/wikipedia/commons/1/1b/Gray1029.png uberon owl:Class UBERON:0010061 biolink:NamedThing lumen of nasopharynx tmpxe7fu0cj_hp_relaxed.owl nasopharyngeal luman|nasopharynx lumen|nasopharynx cavity FMA:55094 uberon owl:Class N73420b918dd647e4b4115a64f159988f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003894 biolink:NamedThing Delayed humeral epiphyseal ossification A delay in the process of formation and maturation of the humeral epiphysis. tmpxe7fu0cj_hp_relaxed.owl Delayed maturation/delayed ossification of the humeral epiphyses|Delayed maturation of the end part of the long bone in upper arm UMLS:C4280543|UMLS:C4021712 human_phenotype owl:Class Nc47726f25daa4fa186c7f5dcac962d54 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004090 biolink:NamedThing periorbital region tmpxe7fu0cj_hp_relaxed.owl periorbital area|periorbita MA:0002875|FMA:59351 uberon owl:Class does not contain any subparts in FMA. In HP covers eyelid, eyebrow, soft tissue HP:0006960 biolink:NamedThing Choroid plexus calcification The presence of calcium deposition in the choroid plexus. tmpxe7fu0cj_hp_relaxed.owl Calcified choroid plexus UMLS:C1863184 human_phenotype owl:Class N0e045d3b8cc54963a8b5ef2d315ee472 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N06f4de4114c043acb7294e1e5f24c0e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1901694 biolink:NamedThing positive regulation of compound eye retinal cell apoptotic process Any process that activates or increases the frequency, rate or extent of compound eye retinal cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl activation of compound eye retinal cell apoptotic process|up regulation of compound eye retinal cell apoptotic process|induction of compound eye retinal cell programmed cell death|upregulation of compound eye retinal cell apoptotic process|up-regulation of compound eye retinal cell apoptotic process pr 2012-12-12T10:28:45Z GO:0046675 biological_process owl:Class UBERON:0004346 biolink:NamedThing gubernaculum (male or female) Embryonic structures which begin as undifferentiated mesenchyme attaching to the caudal end of the gonads. The gubernaculum is present only during the development of the urinary and reproductive organs, being replaced by distinct vestiges in males and females[WP]. Enitoinguinal ligaments that, in the male, connect the fetal testis to the developing scrotum, and, in the female, connect the ovaries to the uterus[MP]. tmpxe7fu0cj_hp_relaxed.owl Gabernaculum|gubernaculae|gubernaculum|caudal suspensory ligament UMLS:C0228051|NCIT:C82952 http://upload.wikimedia.org/wikipedia/commons/7/76/Gray1138.png UBERON:0000452 uberon owl:Class gubernacular WP def is male/female, split term? EMAP is male-specific. vestigial adult in FMA. TODO Nc95a2c9ee47e4509961977514f101e93 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007364 biolink:NamedThing Aplasia/Hypoplasia of the cerebrum tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped cerebrum|Absent/small cerebrum UMLS:C4024902 peter 2008-03-31T05:43:00Z owl:Class N3a7b9bd70b04481e883b8764b3417669 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002005 biolink:NamedThing enteric nervous system The enteric nervous system is composed of two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gall bladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation[GO]. tmpxe7fu0cj_hp_relaxed.owl PNS - enteric|enteric PNS CALOHA:TS-2093|MAT:0000102|MESH:D017615|EFO:0000895|GAID:799|EHDAA2:0004202|UMLS:C0206111|BTO:0002506|MA:0000222|EMAPA:26922|MIAA:0000102|TAO:0001155|BAMS:ENS|ZFA:0001155|BIRNLEX:1166|FMA:66070 uberon owl:Class most sources classify this as autonomic, but in FMA it is placed directly under nervous system. N06b3ac18e20a40eaa6f8c18fc43a952c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0f481c3b6df1472cbfe2f4f0d24f0bd6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005223 biolink:NamedThing Duplicated colon tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850328 human_phenotype owl:Class N705d2be37c03415b87bf82be7c95454b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N739d6c651dac49c7af0e55fd0aa6ceb7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004608 biolink:NamedThing Anteriorly placed odontoid process Anterior mislocalization of the dens of the axis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844512 human_phenotype owl:Class N3abe4b8a82034bc1905b85e38ac09409 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006784 biolink:NamedThing Paranasal sinus hypoplasia Underdevelopment of the paranasal sinuses. tmpxe7fu0cj_hp_relaxed.owl Decreased size of paranasal sinus|Small paranasal sinus|Underdevelopment of paranasal sinus|Decreased volume of paranasal sinus|Decreased pneumatization of paranasal sinus|Atelectasis of paranasal sinus|Decreased growth of paranasal sinus|Hypotrophic paranasal sinus UMLS:C4280256|UMLS:C2749161|UMLS:C4280442|UMLS:C4280441 owl:Class Nb5edc93d23194381a02536181c17bf55 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010714 biolink:NamedThing iliac cartilage element An iliac endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl iliac cartilage condensation EHDAA2:0000808|VHOG:0001126|EMAPA:18347 uberon owl:Class Nefad3e9c751a46538519bf13bb1e4296 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd99f377e09db467f86100d249a3ee912 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010945 biolink:NamedThing Fetal pyelectasis Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. tmpxe7fu0cj_hp_relaxed.owl Foetal pyelectasis|Foetal renal pelvic dilatation|Mild foetal hydronephrosis|Fetal renal pelvic dilatation|Mild fetal hydronephrosis SNOMEDCT_US:430035004|UMLS:C2317073|MSH:D058536 The renal pelvis is the part of the kidney that collects urine. Fetal pyelectasis is a prenatal ultrasound finding that is diagnosed with enlargement of the renal pelvis from 4 to 10 millimeters. In many cases, fetal pyelectasis resolves spontaneously. Note that dilatation of the renal pelvis to more than 10 mm is referred to as severe pyelectasis or hydronephrosis. Measurements less than 5mm are normal, should not be designated as pyelectasis, and should not be reported (PMID:16100637). peter 2011-01-16T03:36:31Z owl:Class Na95b452021aa4852944ff96f9d928ac2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbe01da18737b4cd198c971271206dbb9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001433 biolink:NamedThing distal carpal bone 4 tmpxe7fu0cj_hp_relaxed.owl hamate bone|distal carpal 4|uncinate|unciform|carpal 4|hamate|unciform bone|hand distal carpal bone 4|os hamatum VSAO:0005046|MA:0001343|AAO:0000850|OpenCyc:Mx4rwFTmuJwpEbGdrcN5Y29ycA|EMAPA:36172|UMLS:C0560737|galen:Hamate|NCIT:C12860|FMA:23730 http://upload.wikimedia.org/wikipedia/commons/5/50/Carpus.png uberon owl:Class Small element that articulates anteriorly with metacarpal IV(III). It may be fused to carpal 3(2), 5(4), or other elements.[AAO] articulates with the lunar, distal carpal 3, the ulnare as well as metacarpals 4 and 5.[VSAO]. In the human hand the lunate proximally the fourth and fifth metacarpals distally the triangular medially the capitate laterally[WP] Amphibians: Small element that articulates anteriorly with metacarpal IV(III). It may be fused to carpal 3(2), 5(4), or other elements UBERON:0010257 biolink:NamedThing 6th arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 6th arch mesenchyme. tmpxe7fu0cj_hp_relaxed.owl pharyngeal arch 6 mesenchyme from neural crest|neural crest derived arch 6 mesenchyme|branchial arch 6 mesenchyme from neural crest EHDAA2:0004077 uberon owl:Class UBERON:0001356 biolink:NamedThing medial circumflex femoral artery The medial circumflex femoral artery (internal circumflex artery, medial femoral circumflex artery) is an artery in the upper thigh that helps supply blood to the neck of the femur. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl medial femoral circumflex artery|arteria circumflexa femoris medialis MA:0001996|EMAPA:37670|FMA:20799 http://upload.wikimedia.org/wikipedia/commons/c/c5/Circumflex_femoral_arteries.png uberon owl:Class GO:0014745 biolink:NamedThing negative regulation of muscle adaptation Any process that stops, prevents, or reduces the frequency, rate, or extent of muscle adaptation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of muscle plasticity biological_process owl:Class UBERON:0010421 biolink:NamedThing spleen B cell corona The area of the (spleen) secondary B follicle that surrounds the germinal center and harbors the small recirculating B lymphocytes. tmpxe7fu0cj_hp_relaxed.owl follicle mantle|spleen lymphocytic corona|splenic corona|spleen mantle zone|spleen B-cell corona|splenic B cell corona|B lymphocyte domain of the spleen|spleen B cell corona|B cell domain of the spleen|lymphocytic corona EMAPA:37962 uberon owl:Class GO:0032589 biolink:NamedThing neuron projection membrane The portion of the plasma membrane surrounding a neuron projection. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:0043005 biolink:NamedThing neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. tmpxe7fu0cj_hp_relaxed.owl neuronal cell projection|neuron process|nerve fiber|neurite|neuron protrusion NIF_Subcellular:sao867568886 cellular_component owl:Class CHEBI:17002 biolink:NamedThing cholesteryl ester A sterol ester obtained by formal condensation of the carboxy group of any carboxylic acid with the 3-hydroxy group of cholesterol. tmpxe7fu0cj_hp_relaxed.owl a cholesterol ester|cholesteryl esters|cholesterol esters|Cholesterol ester 0 C28H45O2R 413.65570 413.34196 [H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@H](CC[C@]4(C)[C@@]3([H])CC[C@]12C)OC([*])=O)[C@H](C)CCCC(C)C KEGG:C02530|PMID:2474544 CHEBI:23205|CHEBI:13983|CHEBI:3660 chebi_ontology owl:Class CHEBI:16113 biolink:NamedThing cholesterol A cholestanoid consisting of cholestane having a double bond at the 5,6-position as well as a 3beta-hydroxy group. tmpxe7fu0cj_hp_relaxed.owl CHOLESTEROL|cholest-5-en-3beta-ol|Cholesterin|Cholesterol|Cholest-5-en-3beta-ol|cholesterol|(3beta,14beta,17alpha)-cholest-5-en-3-ol 0 C27H46O InChI=1S/C27H46O/c1-18(2)7-6-8-19(3)23-11-12-24-22-10-9-20-17-21(28)13-15-26(20,4)25(22)14-16-27(23,24)5/h9,18-19,21-25,28H,6-8,10-17H2,1-5H3/t19-,21+,22+,23-,24+,25+,26+,27-/m1/s1 HVYWMOMLDIMFJA-DPAQBDIFSA-N 386.655 386.35487 C1[C@@]2([C@]3(CC[C@]4([C@]([C@@]3(CC=C2C[C@H](C1)O)[H])(CC[C@@]4([C@H](C)CCCC(C)C)[H])[H])C)[H])C PMID:16341241|LIPID_MAPS_instance:LMST01010001|KEGG:C00187|PMID:8838010|PMID:25522988|MetaCyc:CHOLESTEROL|Reaxys:2060565|KNApSAcK:C00003648|CAS:57-88-5|PMID:10901445|Beilstein:2060565|PMID:25451949|PMID:24287311|HMDB:HMDB0000067|Gmelin:550297|PDBeChem:CLR|PMID:4696527|DrugBank:DB04540|KEGG:D00040|PMID:11412894|PMID:25308664|Wikipedia:Cholesterol|PMID:25977713|PMID:25658343 CHEBI:3659|CHEBI:41564|CHEBI:13982|CHEBI:23204 chebi_ontology owl:Class UBERON:0014478 biolink:NamedThing rib skeletal system Subdivision of skeletal system that consists of all ribs and rib joints in an organism. In many vertebrates this consists of the combination of the rib cage and all rib joints, but some vertebrates have ribs outside the thoracic rib cage. tmpxe7fu0cj_hp_relaxed.owl rib series|set of all ribs|rib skeleton TAO:0002100|FMA:265719 uberon owl:Class UBERON:0015019 biolink:NamedThing rib endochondral element A rib bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl rib skeletal element|rib element uberon owl:Class Humans have 24 ribs (12 pairs). The first seven sets of ribs, known as 'true ribs', are directly attached to the sternum through the costal cartilage. The following five sets are known as 'false ribs', three of these sharing a common cartilaginous connection to the sternum, while the last two (eleventh and twelfth ribs) are termed floating ribs (costae fluitantes) or vertebral ribs. They are attached to the vertebrae only, and not to the sternum or cartilage coming off of the sternum. Some people are missing one of the two pairs of floating ribs, while others have a third pair. Rib removal is the surgical excision of ribs for therapeutic or cosmetic reasons. In fish, there are often two sets of ribs attached to the vertebral column. One set, the dorsal ribs, are found in the dividing septum between the upper and lower parts of the main muscle segments, projecting roughly sideways from the vertebral column. The second set, of ventral ribs arise from the vertebral column just below the dorsal ribs, and enclose the lower body, often joining at the tips. Not all species possess both types of rib, with the dorsal ribs being most commonly absent. Sharks, for example, have no dorsal ribs, and only very short ventral ribs, while lampreys have no ribs at all. In some teleosts, there may be additional rib-like bones within the muscle mass. Tetrapods, however, only ever have a single set of ribs which are probably homologous with the dorsal ribs of fishes. In the early tetrapods, every vertebra bore a pair of ribs, although those on the thoracic vertebrae are typically the longest. The sacral ribs were stout and short, since they formed part of the pelvis, connecting the backbone to the hip bones.[1] In most subsequent forms, many of these early ribs have been lost, and in living amphibians and reptiles, there is great variation in rib structure and number. For example, turtles have only eight pairs of ribs, which are developed into a bony or cartilagenous carapace and plastron, while snakes have numerous ribs running along the full length of their trunk. Frogs typically have no ribs, aside from a sacral pair, which form part of the pelvis.[1]. In birds, ribs are present as distinct bones only on the thoracic region, although small fused ribs are present on the cervical vertebrae. The thoracic ribs of birds possess a wide projection to the rear; this uncinate process is an attachment for the shoulder muscles.[1]. Mammals usually also only have distinct ribs on the thoracic vertebra, although fixed cervical ribs are also present in monotremes. In marsupials and placental mammals, the cervical and lumbar ribs are found only as tiny remnants fused to the vertebrae, where they are referred to as transverse processes. In general, the structure and number of the true ribs in humans is similar to that in other mammals. Unlike reptiles, caudal ribs are never found in mammals. N1bdfd246ed80493d8b5f9c34ad516607 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nac15b08cda1d4e6b951f224bf536dd41 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000842 biolink:NamedThing mononuclear cell A leukocyte with a single non-segmented nucleus in the mature form. tmpxe7fu0cj_hp_relaxed.owl peripheral blood mononuclear cell|mononuclear leukocyte FMA:86713|CALOHA:TS-0768|BTO:0000878 cell owl:Class GO:0021565 biolink:NamedThing accessory nerve development The process whose specific outcome is the progression of the accessory nerve over time, from its formation to the mature structure. In mice, the spinal branch of this motor nerve innervates the trapezius and the sternocleidomastoid muscles. The cranial branch joins the vagus nerve and innervates the same targets as the vagus nerve. tmpxe7fu0cj_hp_relaxed.owl cranial nerve 11 development|CN XI development|cranial nerve XI development|spinal accessory nerve development biological_process owl:Class UBERON:0002019 biolink:NamedThing accessory XI nerve A cranial nerve that originates from neurons in the medulla and in the cervical spinal cord. tmpxe7fu0cj_hp_relaxed.owl cranial nerve XI|accessory XI nerve|spinal part of accessory nerve|cervical accessory nerve|nervus accessorius [XI]|CN-XI|spinal accessory nerve|accessory nerve|Willis' nerve|radix spinalis nervus accessorius|eleventh cranial nerve|accessory spinal nerve|accessory XI|spinal accessory nerve tree|accessory nerve [XI]|pars spinalis nervus accessorius FMA:80284|BIRNLEX:812|NCIT:C32041|MBA:717|HBA:9340|BAMS:11n|UMLS:C0000905|XAO:0004214|AAO:0010476|Wikipedia:Spinal_accessory_nerve|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2085|MESH:D000055|EMAPA:17265|FMA:6720|BAMS:XIn|UMLS:C1305777|SCTID:362469008|OpenCyc:Mx4rwTEwI5wpEbGdrcN5Y29ycA|EHDAA2:0000106|VHOG:0000699|MA:0001088|GAID:825|EHDAA:2855 http://upload.wikimedia.org/wikipedia/commons/5/5e/Gray791.png uberon owl:Class Small motor nerve which innervates a single pectoral suspensory muscle, the m. cucullaris.[AAO]|Cranial nerve that innervates the sternocleidomastoid and trapezius complex of muscles. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-1, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]|A small motor nerve which emerges from the lateral wall of the medulla with the roots of the vagus nerve, and innervates a single pectoral suspensory muscle, the m.cucullaris. Cranial nerves XI and XII evolved in the common ancestor to amniotes (non-amphibian tetrapods) thus totalling twelve pairs.[well established][VHOG] In mice, the spinal branch of this motor nerve innervates the trapezius and the sternocleidomastoid muscles. The cranial branch joins the vagus nerve and innervates the same targets as the vagus nerve FMA has distinct cranial and spinal parts - WP says 'Traditional descriptions of the accessory nerve divide it into two parts: a spinal part and a cranial part.[1] However, because the cranial component rapidly joins the vagus nerve, becoming an integral part of said nerve, modern descriptions often consider the cranial component to be part of the vagus nerve and not part of the accessory nerve proper.[2] UBERON:0001763 biolink:NamedThing odontogenic papilla A condensation of odontoblasts that forms the part of a tooth germ that gives rise to dentin and pulp in the mature tooth. It lies below a cellular aggregation known as the enamel organ. tmpxe7fu0cj_hp_relaxed.owl odontogenic condensation|papilla dentis|tooth mesenchyme|dental papilla|dentinal papilla|pharyngeal tooth mesenchyme|dermal papilla GAID:1277|VHOG:0001465|TAO:0005140|ZFA:0005140|BTO:0001839|MA:0001598|EMAPA:32892|XAO:0004045|FMA:57662|VSAO:0000025|MESH:A14.254.900.720.250 http://upload.wikimedia.org/wikipedia/commons/2/22/Gray1011.png uberon owl:Class Tissue of the developing tooth. It is composed of pre-odontoblast and undiffentiated mesnchyme cells and connects to the basal lamina.[TAO]|Cell condensation that is a well-defined population of densely organized mesenchymal cells that aggregates adjacent to an epithelium.[VSAO] Teeth and tooth-like structures, together named odontodes, are repeated organs thought to share a common evolutionary origin. These structures can be found in gnathostomes at different locations along the body: oral teeth in the jaws, teeth and denticles in the oral-pharyngeal cavity, and dermal denticles on elasmobranch skin.[uncertain][VHOG] In humans, the dental papilla appears after 8-10 weeks intra uteral life UBERON:8000009 biolink:NamedThing Purkinje fiber network A collection of Purkinje fibers that receives signals from the right and left bundle branches and innervates the ventricular cardiac muscle. The Purkinje fiber network creates synchronized contractions of the heart ventricles. tmpxe7fu0cj_hp_relaxed.owl Purkinje fibre network http://orcid.org/0000-0001-5208-3432 uberon owl:Class UBERON:0010846 biolink:NamedThing radius pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a radius bone. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001586 still to decide whether this is a distinct pre-cartilage condensation uberon owl:Class CHEBI:50904 biolink:NamedThing allergen A chemical compound, or part thereof, which causes the onset of an allergic reaction by interacting with any of the molecular pathways involved in an allergy. tmpxe7fu0cj_hp_relaxed.owl allergene|allergenic agent|alergeno Wikipedia:Allergen chebi_ontology owl:Class UBERON:0010272 biolink:NamedThing hyoid apparatus A group of bones comprised of hyoid body and two pairs of cornua (i.e. greater cornua and lesser cornua), and lies just below the tongue, above the thyroid cartilage. tmpxe7fu0cj_hp_relaxed.owl hyobranchial apparatus|apparatus hyobranchialis|apparatus hyoideus|hyolingual system http://palaeos.com/vertebrates/bones/gill_arches/images/ReptileHyoids.gif|SCTID:410035009|AAO:0000225|EMAPA:37600|AAO:0000682|MA:0003037 uberon owl:Class Apparatus located in the floor of the mouth, under the mandibular arcade. The apparatus consists of a central corpus and four pairs of processes. This apparatus serves as the site of insertion for a variety of muscles associated with movements of the tongue and as the origin of the m. hyoglossus.[AAO] relationship loss: part_of hyolaryngeal complex (AAO:0000226)[AAO] In most mammals, including humans, the hyoid apparatus is shaped like a horseshoe. However, in humans, some of the bones of the hyoid apparatus are fused into a single bone called os hyoideum. In other animals such as frogs, the hyoid apparatus has a hyoid body that is chiefly comprised of hyaline cartilage and two pairs of processes (i.e. alary process and the posteriolateral process). GO:0003152 biolink:NamedThing morphogenesis of an epithelial fold involved in embryonic heart tube formation The morphogenetic process in which an epithelial sheet bends along a linear axis, contributing to embryonic heart tube formation. tmpxe7fu0cj_hp_relaxed.owl tb 2009-09-23T10:10:24Z biological_process owl:Class GO:0003144 biolink:NamedThing embryonic heart tube formation The process that gives rise to the embryonic heart tube. This process pertains to the initial formation of a structure from unspecified parts. The embryonic heart tube is an epithelial tube that will give rise to the mature heart. tmpxe7fu0cj_hp_relaxed.owl tb 2009-09-22T04:22:34Z biological_process owl:Class UBERON:0004088 biolink:NamedThing orbital region The subdivision of the face that includes the eye (eyeball plus adnexa such as eyelids) and the orbit of the skull and associated parts of the face such as the eyebrows, if present. tmpxe7fu0cj_hp_relaxed.owl orbital content|eye region|orbital part of face|orbital part of eye|content of orbital part of eye|ocular region|ocular and peri-ocular region FMA:260119 note the FMA class is more narrow though, and is more like eye + muscles + vasculature. The FMA also has FMA:72951 orbital part of eye uberon owl:Class in HP covers eyelid, eyebrow. UBERON:0002333 biolink:NamedThing pulmonary trunk An arterial trunk which is continuous with the heart and branches into the pulmonary arteries. tmpxe7fu0cj_hp_relaxed.owl trunk of pulmonary arterial tree|pulmonary artery (trunk)|main pulmonary artery MA:0002033|OpenCyc:Mx4rv-6d0ZwpEbGdrcN5Y29ycA|EHDAA2:0001576|VHOG:0001134|NCIT:C116918|EHDAA:9831|galen:PulmonaryTrunk|FMA:8612|EMAPA:17015 Alveoli:diagram.png uberon owl:Class An arterial trunk with origin from the right ventricle of the heart, and dividing into the right and left pulmonary arteries, which enter the corresponding lungs and branch with the bronchi. [TFD][VHOG] As in birds, the conus arteriosus split during embryonic development in mammals to produce the pulmonary trunk and single aortic trunk of the adult.[well established][VHOG] UBERON:0001319 biolink:NamedThing vaginal vein One the veins that drains the vaginal venous plexus, into the hypogastric veins. [WP,modified]. tmpxe7fu0cj_hp_relaxed.owl vagina vein|vein of vagina FMA:18899|EMAPA:37796|MA:0002251 http://upload.wikimedia.org/wikipedia/commons/d/d4/Gray589.png uberon owl:Class UBERON:0001317 biolink:NamedThing internal iliac vein A vein that begins near the upper part of the greater sciatic foramen, passes upward behind and slightly medial to the hypogastric artery and, at the brim of the pelvis, joins with the external iliac to form the common iliac vein. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl hypogastric vein|v. iliaca interna|v. hypogastrica UMLS:C0226764|EMAPA:37148|EHDAA2:0000874|VHOG:0000749|MA:0002139|FMA:18884|MA:0002145|NCIT:C32847|galen:InternalIliacVein http://upload.wikimedia.org/wikipedia/commons/c/cb/Internaliliacv.png uberon owl:Class UBERON:0011878 biolink:NamedThing muscle layer of esophagus A muscle layer that is part of a wall of esophagus. tmpxe7fu0cj_hp_relaxed.owl muscle coat of esophagus|muscular coat of oesophagus|tela muscularis (oesophagus)|tunica muscularis esophagi|tunica muscularis oesophageae|muscular layer of oesophagus FMA:62998 uberon owl:Class In the upper esophagus, part of the externa is skeletal muscle, rather than smooth muscle UBERON:0036264 biolink:NamedThing zygomaticotemporal nerve The zygomaticotemporal nerve or zygomaticotemporal branch (temporal branch) is derived from the maxillary branch of the trigeminal nerve (Cranial nerve V). It runs along the lateral wall of the orbit in a groove in the zygomatic bone, receives a branch of communication from the lacrimal, and passes through zygomaticotemporal foramen in the zygomatic bone to enter the temporal fossa. It ascends between the bone, and substance of the Temporalis muscle, pierces the temporal fascia about 2.5 cm. above the zygomatic arch, and is distributed to the skin of the side of the forehead, and communicates with the facial nerve and with the auriculotemporal branch of the mandibular nerve. As it pierces the temporal fascia, it gives off a slender twig, which runs between the two layers of the fascia to the lateral angle of the orbit. tmpxe7fu0cj_hp_relaxed.owl ramus zygomaticotemporalis (Nervus zygomaticus)|zygomaticotemporal|zygomaticotemporal branch of zygomatic nerve|ramus zygomaticotemporalis nervus zygomatici|zygomaticotemporal branch Wikipedia:Zygomaticotemporal_nerve|SCTID:280243001|FMA:52972 uberon owl:Class GO:0032945 biolink:NamedThing negative regulation of mononuclear cell proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of mononuclear cell proliferation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of peripheral blood mononuclear cell proliferation|negative regulation of PBMC proliferation biological_process owl:Class HP:0004258 biolink:NamedThing Small trapezoid bone Underdevelopment of the trapezoid. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025387 human_phenotype owl:Class N7927e39fe71141c3a1a89cc1c531c999 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003559 biolink:NamedThing hindbrain arachnoid mater An arachnoid mater that is part of a hindbrain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hindbrain arachnoid|arachnoid mater of neuraxis of hindbrain|hindbrain arachnoid mater of neuraxis|arachnoid of hindbrain|arachnoid mater of hindbrain|rhombencephalon arachnoid mater EMAPA:17784|MA:0000988|VHOG:0000236 uberon owl:Class Arachnoid mater that is part of the hindbrain. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] UBERON:0003709 biolink:NamedThing circle of Willis A circle of arteries that supply blood to the brain. The Circle of Willis comprises the following arteries: Anterior cerebral artery (left and right); Anterior communicating artery; Internal carotid artery (left and right); Posterior cerebral artery (left and right); Posterior communicating artery (left and right).The basilar artery and middle cerebral arteries, supplying the brain, are also considered part of the circle. tmpxe7fu0cj_hp_relaxed.owl Willis circle|cerebral arterial circle|arterial circle|arterial circle of Willis|circulus arteriosus cerebri EMAPA:37829|FMA:50454|OpenCyc:Mx4rwSrCwJwpEbGdrcN5Y29ycA|EHDAA:9758|MESH:D002941|GAID:486|EHDAA2:0000252|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1468|Wikipedia:Circle_of_Willis|SCTID:362047009 http://upload.wikimedia.org/wikipedia/commons/2/2e/Circle_of_Willis_en.svg uberon owl:Class In zebrafish, the circle of vessels comprised of the basal communicating artery (BCA) and posterior communicating segments (PCS) superficially resemble but are not homologous to the human circle of Willis HP:0007485 biolink:NamedThing Absence of subcutaneous fat Lack of subcutaneous adipose tissue. tmpxe7fu0cj_hp_relaxed.owl Absent fat below the skin|Lack of fatty tissue below the skin|General absence of subcutaneous fat UMLS:C4024855|UMLS:C0241267 HP:0007519 human_phenotype owl:Class N41d464d645534820b21edaa82ad283da biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0035981 biolink:NamedThing tongue muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a tongue muscle cell. tmpxe7fu0cj_hp_relaxed.owl bf 2011-08-22T01:35:16Z biological_process owl:Class HP:0010020 biolink:NamedThing Irregular epiphysis of the 1st metacarpal Uneven radiographic opacity of the epiphysis of the 1st metacarpal. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the 1st long bone of hand UMLS:C4024103 doelkens 2009-05-27T04:02:50Z human_phenotype owl:Class N39c45ea9dcca410a9171f7bd747031eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003334 biolink:NamedThing keratinocyte development The process whose specific outcome is the progression of a keratinocyte over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl dph 2009-11-24T08:55:57Z biological_process owl:Class GO:0030216 biolink:NamedThing keratinocyte differentiation The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte. tmpxe7fu0cj_hp_relaxed.owl keratinocyte cell differentiation biological_process owl:Class UBERON:0006568 biolink:NamedThing hypothalamic nucleus A nucleus of brain that is part of a hypothalamus. tmpxe7fu0cj_hp_relaxed.owl nucleus of hypothalamus FMA:258762|MA:0002426|BTO:0002449|EMAPA:35417 uberon owl:Class HP:0002777 biolink:NamedThing Tracheal stenosis tmpxe7fu0cj_hp_relaxed.owl Narrowing of windpipe MSH:D014135|UMLS:C0040583|SNOMEDCT_US:11296007 human_phenotype owl:Class Nc3407f7cd26a4fd98e9b4237356b3929 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N18e138210d304f7599e92e47be63bc0b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0005575 biolink:NamedThing cellular_component The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together.|A location, relative to cellular compartments and structures, occupied by a macromolecular machine when it carries out a molecular function. There are two ways in which the gene ontology describes locations of gene products: (1) relative to cellular structures (e.g., cytoplasmic side of plasma membrane) or compartments (e.g., mitochondrion), and (2) the stable macromolecular complexes of which they are parts (e.g., the ribosome). tmpxe7fu0cj_hp_relaxed.owl cell or subcellular entity|cellular component|subcellular entity NIF_Subcellular:sao1337158144 Note that, in addition to forming the root of the cellular component ontology, this term is recommended for use for the annotation of gene products whose cellular component is unknown. Note that when this term is used for annotation, it indicates that no information was available about the cellular component of the gene product annotated as of the date the annotation was made; the evidence code ND, no data, is used to indicate this.|Note that, in addition to forming the root of the cellular component ontology, this term is recommended for use for the annotation of gene products whose cellular component is unknown. When this term is used for annotation, it indicates that no information was available about the cellular component of the gene product annotated as of the date the annotation was made; the evidence code 'no data' (ND), is used to indicate this. GO:0008372 cellular_component owl:Class UBERON:0004986 biolink:NamedThing mucosa of deferent duct A mucosa that is part of a vas deferens [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl ductus deferens mucous membrane|sperm duct organ mucosa|mucosa of organ of ductus deferens|mucosa of organ of vas deferens|vas deferens organ mucosa|mucous membrane of vas deferen|mucosa of vas deferen|deferent duct mucosa of organ|deferent duct mucosa|mucous membrane of sperm duct|mucous membrane of vas deferens|mucosa of organ of deferent duct|mucosa of vas deferens|ductus deferens mucosa of organ|mucous membrane of deferent duct|vas deferens mucosa of organ|vas deferen mucosa|deferent duct organ mucosa|vas deferen mucous membrane|sperm duct mucosa|organ mucosa of deferent duct|organ mucosa of vas deferens|mucosa of ductus deferens|organ mucosa of vas deferen|deferent ductal mucosa|mucosa of sperm duct|tunica mucosa (ductus deferens)|ductus deferens organ mucosa|mucosa of organ of sperm duct|vas deferen mucosa of organ|organ mucosa of ductus deferens|sperm duct mucosa of organ|vas deferens mucous membrane|sperm duct mucous membrane|mucosa of organ of vas deferen|tunica mucosa ductus deferentis|deferent duct mucous membrane|ductus deferens mucosa|mucous membrane of ductus deferens|organ mucosa of sperm duct|vas deferen organ mucosa|vas deferens mucosa FMA:19240 uberon owl:Class CL:0010006 biolink:NamedThing cardiac blood vessel endothelial cell tmpxe7fu0cj_hp_relaxed.owl owl:Class Nfad2a5e0af464fc19434d213f4e36ee4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000586 biolink:NamedThing germ cell The reproductive cell in multicellular organisms. tmpxe7fu0cj_hp_relaxed.owl VHOG:0001534|WBbt:0006796|BTO:0000535 cell owl:Class CL:2000010 biolink:NamedThing dermis blood vessel endothelial cell Any blood vessel endothelial cell that is part of a dermis. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-06-04T15:12:06Z cell owl:Class UBERON:0016542 biolink:NamedThing limbic cortex tmpxe7fu0cj_hp_relaxed.owl limbic lobe cortex|cortex of limbic lobe|gray matter of limbic lobe FMA:242234 uberon owl:Class UBERON:0002600 biolink:NamedThing limbic lobe Part of cerebral hemisphere located on the medial surface, forming a ring around the brain stem. tmpxe7fu0cj_hp_relaxed.owl limbic lobe (carpenter)|gyrus fornicatus|grande lobe limbique of Broca|fornicate gyrus|fornicate lobe|lobus limbicus|fornicate convolution BAMS:LL|CALOHA:TS-2061|HBA:4219|FMA:72719|DHBA:12155|BIRNLEX:1128|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=834|BAMS:Limbic_lobe|UMLS:C0458337 http://upload.wikimedia.org/wikipedia/commons/7/7e/Human_brain_inferior-medial_view_description.JPG uberon owl:Class N1818a12b8bbb4a5785774e202417c666 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006931 biolink:NamedThing stomach glandular region mucosa Stomach mucosa that is lined with glandular epithelium and part of a stomach glandular region. tmpxe7fu0cj_hp_relaxed.owl stomach glandular region glandular mucous membrane EMAPA:27167|MA:0001614 uberon owl:Class HP:0005745 biolink:NamedThing Congenital foot contractures tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025144 human_phenotype owl:Class N0e15a15250a54771a413397194825005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:3000048 biolink:NamedThing Abnormal great auricular nerve morphology Any structural anomaly of a great auricular nerve. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073256 The great auricular nerve originates from the cervical plexus and ascends to the posterior inferior region of the parotid gland, where it divides into several small branches. The nerve supplies sensation for an extensive area of the face including the skin over the parotid gland and the mastoid process and the surface of the external ear. The great auricular nerve winds around the posterior aspect of the sternocleidomastoid muscle. After perforating the deep fascia, it ascends upon the sternocleidomastoid muscle beneath the platysma to the parotid gland, where it divides into an anterior and a posterior branch. The anterior branch provides sensory innervation to the skin overlying the parotid gland and communicates with the facial nerve in the substance of the gland. The posterior branch innervates the skin over the mastoid and the posterior surface of the auricle except at its upper part. vasilevs 2015-08-07T01:08:45Z human_phenotype owl:Class Nff4b6ea487a7447fb2f679236ed9805c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021608 biolink:NamedThing accessory nerve formation The process that gives rise to the accessory nerve. This process pertains to the initial formation of a structure from unspecified parts. The spinal branch of this motor nerve innervates the trapezius and the sternocleidomastoid muscles. The cranial branch joins the vagus nerve and innervates the same targets as the vagus nerve. tmpxe7fu0cj_hp_relaxed.owl CN XI biosynthesis|CN XI formation biological_process owl:Class UBERON:0004571 biolink:NamedThing systemic arterial system The part of the arterial system which carries oxygenated blood away from the heart to the body, and returns deoxygenated blood back to the heart. tmpxe7fu0cj_hp_relaxed.owl systemic arterial circulatory system Wikipedia:Systemic_circulation#Arteries|FMA:45623 uberon owl:Class N608ab254fe424b14b46cb5d0a7dbc15b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0072384 biolink:NamedThing organelle transport along microtubule The directed movement of an organelle along a microtubule, mediated by motor proteins. This process begins with the attachment of an organelle to a microtubule, and ends when the organelle reaches its final destination. tmpxe7fu0cj_hp_relaxed.owl microtubule-based organelle localization mah 2010-12-01T04:59:11Z biological_process owl:Class Ne6c37bc4290f4d27989017e144a6831a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008342 biolink:NamedThing intestinal villus of duodenum An intestinal villus in the duodenum. tmpxe7fu0cj_hp_relaxed.owl FMA:63300 uberon owl:Class GO:0035932 biolink:NamedThing aldosterone secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0001789 biolink:NamedThing outer nuclear layer of retina The layer within the retina where the photoreceptor cell bodies reside. tmpxe7fu0cj_hp_relaxed.owl retina, outer nuclear layer|retinal outer nuclear layer|neural retina outer nuclear layer|layer of outer granules|retinal outer nuclear layers|external nuclear layer|ONL|stratum nucleare externum (retina)|stratum nucleare externum retinae|outer nuclear layer|retina outer nuclear layer UMLS:C0229210|BTO:0005600|VHOG:0001170|XAO:0003219|EMAPA:19157|ZFA:0001464|FMA:58684|NCIT:C33236|BAMS:Ronl|TAO:0001464|MA:0001315 uberon owl:Class (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The outer layer of the optic cup becomes the pigment layer of the retina, whereas the inner layer differentiates into the photoreceptive cells and neuronal layers of the retina.[well established][VHOG] GO:0048659 biolink:NamedThing smooth muscle cell proliferation The multiplication or reproduction of smooth muscle cells, resulting in the expansion of a cell population. tmpxe7fu0cj_hp_relaxed.owl SMC proliferation biological_process owl:Class UBERON:0002392 biolink:NamedThing nasolacrimal duct The paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity. tmpxe7fu0cj_hp_relaxed.owl nasolacrimal duct - posterior naris|tear duct|d. nasolacrimalis OpenCyc:Mx4rv6PJy5wpEbGdrcN5Y29ycA|GAID:902|VHOG:0000664|EHDAA2:0001237|EHDAA:9094|UMLS:C0027437|MA:0001299|EMAPA:17853|FMA:9703|EHDAA:7849|AAO:0000643|MESH:D009301|NCIT:C33161 http://upload.wikimedia.org/wikipedia/commons/c/cf/Gray896.png uberon owl:Class The nasolacrimal duct is probably homologous to the posterior (excurrent) naris of actinopterygian fishes.[uncertain][VHOG] the nasolacrimal duct, the sac is lined by stratified columnar epithelium with mucus-secreting goblet cells, and is surrounded by connective tissue HP:0009504 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 2nd finger A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the outermost bone of the index finger UMLS:C4024326 doelkens 2009-01-16T01:11:04Z human_phenotype owl:Class Nc9fc2dd78df14d75ab367b4fad62304a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006683 biolink:NamedThing posterior fontanelle A gap between bones in the skull at the junction of the sagittal suture and lambdoidal suture. tmpxe7fu0cj_hp_relaxed.owl fonticulus posterior|posterior fontanelle of skull|occipital fontanelle EMAPA:19200|FMA:75440 http://upload.wikimedia.org/wikipedia/commons/b/b3/Gray197.png uberon owl:Class In humans it generally closes in 6-8 weeks from birth. A delay in closure is associated with congential hypothyroidism GO:0044088 biolink:NamedThing regulation of vacuole organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a vacuole. tmpxe7fu0cj_hp_relaxed.owl regulation of vacuole organisation|regulation of vacuole biogenesis biological_process owl:Class HP:0006685 biolink:NamedThing Endocardial fibrosis The presence of excessive connective tissue in the endocardium. tmpxe7fu0cj_hp_relaxed.owl Endomyocardial fibrosis UMLS:C0553980|MSH:D004719|SNOMEDCT_US:398716006 HP:0005169 human_phenotype owl:Class N5b6b9b4932374ec8a5dfe142c153123f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:29990 biolink:NamedThing D-aspartate(1-) An aspartate(1-) that is the conjugate base of D-aspartic acid. tmpxe7fu0cj_hp_relaxed.owl (2R)-2-ammoniobutanedioate|D-aspartate|hydrogen D-aspartate|(2R)-2-ammoniosuccinate|D-aspartate(1-)|D-aspartic acid monoanion -1 C4H6NO4 InChI=1S/C4H7NO4/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H,6,7)(H,8,9)/p-1/t2-/m1/s1 CKLJMWTZIZZHCS-UWTATZPHSA-M 132.09478 132.03023 [NH3+][C@H](CC([O-])=O)C([O-])=O Reaxys:8316944|Beilstein:8316944 CHEBI:20919|CHEBI:12918 chebi_ontology owl:Class CHEBI:29994 biolink:NamedThing D-aspartate(2-) An aspartate(2-) that is the conjugate base of D-aspartate(1-). tmpxe7fu0cj_hp_relaxed.owl (2R)-2-aminosuccinate|D-aspartic acid dianion|D-aspartate(2-)|(2R)-2-aminobutanedioate|D-aspartate -2 C4H5NO4 InChI=1S/C4H7NO4/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H,6,7)(H,8,9)/p-2/t2-/m1/s1 CKLJMWTZIZZHCS-UWTATZPHSA-L 131.08684 131.02295 N[C@H](CC([O-])=O)C([O-])=O Gmelin:327368|Reaxys:14495011 chebi_ontology owl:Class Nd3544c969cb847ac90cc340e9fe9967b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001009 biolink:NamedThing circulatory system Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP]. tmpxe7fu0cj_hp_relaxed.owl systema cardiovasculare VHOG:0001248|Wikipedia:Circulatory_system|OpenCyc:Mx4rvVjzG5wpEbGdrcN5Y29ycA|FBbt:00005057|AAO:0000959|CALOHA:TS-2103 the cardiovascular system and the lymphatic system are parts of the circulatory system http://upload.wikimedia.org/wikipedia/commons/2/29/Circulatory_System_en.svg uberon owl:Class Anatomical system of ion binding, a pumping mechanism, and an efficient vascular system; consisting of the blood, heart, and blood and lymph vessels, respectively.[AAO] We should divest ourselves of the view that earlier vertebrate groups were 'on their way' to becoming mammals, as clearly they were not such visionaries. Neither were their systems 'imperfect' as earlier anatomists thought. Instead, their circulatory systems served them well to address the ecological demands arising from their lifestyles.[well established][VHOG] HP:0001961 biolink:NamedThing Hypoplastic heart tmpxe7fu0cj_hp_relaxed.owl Underdeveloped heart|Small heart UMLS:C3151525 owl:Class N6cf1fe59bd4a4496b207e55bc1c584ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:28938 biolink:NamedThing ammonium An onium cation obtained by protonation of ammonia. tmpxe7fu0cj_hp_relaxed.owl NH4+|NH4(+)|ammonium ion|[NH4](+)|ammonium|ammonium cation|azanium|Ammonium(1+) +1 H4N InChI=1S/H3N/h1H3/p+1 QGZKDVFQNNGYKY-UHFFFAOYSA-O 18.03850 18.03383 [H][N+]([H])([H])[H] PMID:16345391|Wikipedia:Ammonium|PMID:12096804|Reaxys:16093784|PMID:22265469|PMID:22562341|PMID:11341317|PMID:18515490|MolBase:929|PMID:22631217|PMID:17392693|PDBeChem:NH4|PMID:19682559|PMID:19716251|PMID:19199063|KEGG:C01342|PMID:22524020|PMID:16903292|MetaCyc:AMMONIUM|PMID:21993530|PMID:14512268|PMID:19596600|Gmelin:84|PMID:11319011|CAS:14798-03-9|PMID:14879753 CHEBI:49783|CHEBI:7435|CHEBI:22534 chebi_ontology owl:Class N979045260bbc4e01bd05ec5c2d0dc33a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011144 biolink:NamedThing adductor muscle of hip tmpxe7fu0cj_hp_relaxed.owl adductor group (leg)|muscle of adductor group MA:0002267|EMAPA:19166|BTO:0000030 http://upload.wikimedia.org/wikipedia/commons/e/e2/Anterior_Hip_Muscles_2.PNG uberon owl:Class HP:0031396 biolink:NamedThing Abnormal proportion of naive T cells Any abnormality in the proportion of naive T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal naive T cell proportion|Abnormal proportion of naive thymus-derived, alpha-beta T cells 2017-09-03 12:46:29+00:00 Following the development of T cells in the thymus, they enter the blood stream and recirculate between the blood and peripheral lymphatic tissues. Mature recirculating T cells that have not yet encountered their specific antigen are known as naive T cells. Mature T cell not yet exposed to antigen with the phenotype CCR7-positive, CD45RA-positive, and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low. Human mature CD4+ T cells are functionally heterogeneous and can be divided into naive and memory/effector populations based on the expression of cell surface markers. Although the most significant differences between these two populations are functional, the leukocyte common Ag (CD45) was promoted as a potential marker of memory T cells. CD45 Ag may be found in various isoforms depending on alternative splicing of three extracellularly expressed exons. The expression of the highest molecular weight isoform, referred to as CD45RA, defines the population of CD4+ unprimed lymphocytes. Activation of naive lymphocytes through TCR engagement is followed by loss of CD45RA Ag and transition to the expression of the smallest molecular weight isoform CD45RO. These primed cells express high levels of activation Ags, acquire effector functions, and need less costimuli requirements for further activation. peter owl:Class N31a6dfeb8e3f4e34bdfaafec2fab1ef8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:28842 biolink:NamedThing octadecanoic acid A C18 straight-chain saturated fatty acid component of many animal and vegetable lipids. As well as in the diet, it is used in hardening soaps, softening plastics and in making cosmetics, candles and plastics. tmpxe7fu0cj_hp_relaxed.owl Octadecanoic acid|n-octadecanoic acid|18:0|Octadecansaeure|stearic acid|Oktadekansaeure|Stearinsaeure|CH3-[CH2]16-COOH|C18:0|acide octadecanoique|octadecanoic acid|STEARIC ACID|octadecoic acid|acide stearique 0 C18H36O2 InChI=1S/C18H36O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18(19)20/h2-17H2,1H3,(H,19,20) QIQXTHQIDYTFRH-UHFFFAOYSA-N 284.478 284.27153 C(CCCCCCCCCC)CCCCCCC(=O)O PMID:26884207|PMID:19838949|Beilstein:608585|LIPID_MAPS_instance:LMFA01010018|KEGG:D00119|PMID:22735334|HMDB:HMDB0000827|PMID:7763343|PMID:16448636|DrugBank:DB03193|Wikipedia:Stearic_acid|PMID:17439666|KEGG:C01530|Gmelin:11738|Drug_Central:4611|PMID:11425337|Reaxys:608585|CAS:57-11-4|PDBeChem:STE|KNApSAcK:C00001238|MetaCyc:STEARIC_ACID|PMID:19468063|PMID:18982377 CHEBI:25631|CHEBI:45710 chebi_ontology owl:Class CHEBI:25629 biolink:NamedThing octadecanoate A fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid). Stearates have a variety of uses in the pharmaceutical industry. tmpxe7fu0cj_hp_relaxed.owl stearic acid, ion(1-)|octadecanoate|octadecanoic acid, ion(1-)|CH3-[CH2]16-COO(-)|Stearate|stearate -1 C18H35O2 InChI=1S/C18H36O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18(19)20/h2-17H2,1H3,(H,19,20)/p-1 QIQXTHQIDYTFRH-UHFFFAOYSA-M 283.470 283.26425 C(CCCCCCCCCC)CCCCCCC(=O)[O-] Reaxys:3590530|PMID:7452460|KEGG:C01530|Gmelin:344065|PMID:3180776|PMID:19184617|CAS:646-29-7|MetaCyc:STEARIC_ACID|Beilstein:3590530|PMID:16401590 CHEBI:231588 chebi_ontology owl:Class UBERON:0008420 biolink:NamedThing buccal epithelium An epithelium that is part of a buccal mucosa. tmpxe7fu0cj_hp_relaxed.owl BTO:0004803 uberon owl:Class UBERON:0006956 biolink:NamedThing buccal mucosa The inner lining of the cheeks and lips. tmpxe7fu0cj_hp_relaxed.owl FMA:59785|NCIT:C12505|BTO:0003833|CALOHA:TS-2349|UMLS:C1578559 uberon owl:Class Nbd449737be784464b8be33c3b5267c35 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N443b0ede14c44f0186e126e7895d5e2a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008953 biolink:NamedThing Pectoralis major hypoplasia Underdevelopment of the pectoralis major. tmpxe7fu0cj_hp_relaxed.owl Pectoralis major muscle hypoplasia UMLS:C1840086 The pectoralis major is a thick, fan-shaped muscle of the anterior chest. human_phenotype owl:Class N6cd7e5aa68184b7092cff75c57b453f6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0070062 biolink:NamedThing extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. tmpxe7fu0cj_hp_relaxed.owl extracellular vesicular exosome|exosome cellular_component owl:Class HP:0000472 biolink:NamedThing Long neck Increased inferior-superior length of the neck. tmpxe7fu0cj_hp_relaxed.owl Cervical elongation|Increased cervical length|Increased length of neck|Elongated neck|Long neck UMLS:C1839816 human_phenotype owl:Class N8458753e2389456282f57bbb8767aa96 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0db32f980ac745bfb1e9ae570685f79a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0019204 biolink:NamedThing skin epithelium Any region of epithelium that is part of a skin region. tmpxe7fu0cj_hp_relaxed.owl BTO:0004382 uberon owl:Class HP:0012026 biolink:NamedThing Hyperornithinemia Increased concentration of ornithine in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood ornithine levels SNOMEDCT_US:276426004|MSH:D015799|SNOMEDCT_US:33985005|UMLS:C0599035 peter 2012-07-26T10:49:54Z human_phenotype owl:Class N06a27a6205f54c16964d8255ceb62ff4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0035264 biolink:NamedThing multicellular organism growth The increase in size or mass of an entire multicellular organism, as opposed to cell growth. tmpxe7fu0cj_hp_relaxed.owl body growth biological_process owl:Class UBERON:0001751 biolink:NamedThing dentine Collagen-rich odontogenic tissue characteristic of teeth and tooth-like skeletal elements (e.g., odontodes); mature dentine is mineralized and develops from predentine tissue; often (but not always) tubular and acellular. tmpxe7fu0cj_hp_relaxed.owl predentin|dentin|dentine of tooth NCIT:C32453|GAID:1272|MA:0002542|BTO:0003453|MESH:A14.254.900.280|XAO:0004051|VHOG:0001589|EMAPA:35281|TAO:0005143|UMLS:C0011429|ZFA:0005143|FMA:55628|VSAO:0000069 . uberon owl:Class Mineralized collagen containing substance that forms the tooth structure.[TAO] Dentine is a bona fide vertebrate novelty, and dentine-secreting odontoblasts represent a cell type that is exclusively derived from the neural crest.[well established][VHOG] dentinal Dentine is found in the fossil record as early as the late Cambrian, in fish, where it may have had a role in electrochemical sensing of the environment as well as assisting in defense[WP] UBERON:0011587 biolink:NamedThing pre-dentine Odontogenic tissue that is collagen-rich and characteristic of vertebrate teeth and tooth-like structures (e.g., odontodes) deposited by preodontoblasts and odontoblasts that are typically excluded from the matrix. tmpxe7fu0cj_hp_relaxed.owl predentine tissue|pre-dentine tissue|predentin VSAO:0000071|XAO:0004052|EMAPA:36439 uberon owl:Class UBERON:0011276 biolink:NamedThing nail of manual digit 4 A nail that is part of a manual digit 4. tmpxe7fu0cj_hp_relaxed.owl nail of fourth finger|nail plate of ring finger|nail of manual digit IV|claw of digit 4 of fore-paw|nail of ring finger|ring finger nail FMA:54338|EMAPA:18737 uberon owl:Class UBERON:0003624 biolink:NamedThing manual digit 4 4th digit of the manus. tmpxe7fu0cj_hp_relaxed.owl fore limb digit 4|manual digit IV|4th digit of hand|fore digit IV|4th finger|fourth digit of hand|ring finger|hand digit 4|digit 4 of fore-paw|finger 4|fourth finger|digitus annularis EMAPA:17438|EHDAA2:0000529|NCIT:C52837|MA:0000457|AAO:0010642|FMA:24948|UMLS:C0230398 Ring:finger.JPG uberon owl:Class HP:0011102 biolink:NamedThing Ileal atresia An abnormal closure, or atresia of the tubular structure of the ileum. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:25896009|UMLS:C0266176 peter 2011-06-04T09:22:34Z human_phenotype owl:Class N252bd7280a214d09bc2847f5bb38617a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014484 biolink:NamedThing distal phalanx of digit 2 A distal phalanx that is part of a digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl digit II P3|distal phalanx of index digit|second digit distal phalanx|2nd digit distal phalanx|second distal phalanx|distal phalanx of second digit|distal phalanx of digit II|digit 2 distal phalanx|distal phalanx of 2nd digit uberon owl:Class N5c6946003842490aba30a15a0c78ce04 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005255 biolink:NamedThing pedal digit mesenchyme Mesenchyme that is part of a developing toe [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pedal digital ray mesenchyme|finger ray mesenchyme|hind limb digit mesenchyme|foot digit mesenchyme|toe mesenchyme VHOG:0000463|EMAPA:32947 uberon owl:Class GO:0005975 biolink:NamedThing carbohydrate metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule. tmpxe7fu0cj_hp_relaxed.owl carbohydrate metabolism|single-organism carbohydrate metabolic process|multicellular organismal carbohydrate metabolic process Wikipedia:Carbohydrate_metabolism jl 2012-10-23T15:40:34Z GO:0044261|GO:0044723 biological_process owl:Class UBERON:0005562 biolink:NamedThing thymus primordium A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]. tmpxe7fu0cj_hp_relaxed.owl thymic rudiment|thymic primordium EMAPA:17523|EHDAA:2969|EHDAA2:0002023|ZFA:0001077|TAO:0001077|EFO:0003622 we follow Kardong table 13.1 in having some developmental contribution of pouch 4 in mammals, but this isn't reflected in EHDAA2. Consider adding distinct term for mesenchyme (see EHDAA2), to indicate NC constribution. uberon owl:Class A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production. Willett et al, 1999.[TAO] variability of developmental origin: In fish, thymic primordia are generated by all the pouches except the first. However, in avians the thymus arises from pouches 3 and 4, whereas in humans it is only generated by the third pouch[PMID:16313389] The thymus arises from the second pouch in frogs, 2-6 in cartilaginous fish, 2-3 in reptiles, 3 or 4 in bony fish, birds and mammals. The final number is variable - 5 paired organs in sharks, 4 in caecilians, 3 in urodeles, 1 in many teleost, anurans and many mammals Nad740549ab34429181e478e6e8acfeb9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc01fd3a43b8f481b927d917e4f4568ed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003375 biolink:NamedThing Narrow greater sciatic notch A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. tmpxe7fu0cj_hp_relaxed.owl Narrow sacrosciatic notch|Small sacrosciatic notch|Narrowed sacrosciatic notch|Narrow greater sacrosciatic notches|Small sacrosciatic notches|Narrow sciatic notches|Narrow sacroiliac notch|Narrowed greater sciatic notch SNOMEDCT_US:289457006|UMLS:C0566888 The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the lateral dimension of the notch. HP:0008805|HP:0008803|HP:0008813|HP:0008840|HP:0008842 human_phenotype owl:Class N08d74bd06b8343979663b0d65956891f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001261 biolink:NamedThing lamina propria of urinary bladder A lamina propria that is part of a urinary bladder [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lamina propria mucosae of bladder|urinary bladder lamina propria|urinary bladder lamina propria mucosa|lamina propria mucosa of urinary bladder|lamina propria mucosa of bladder|bladder lamina propria|bladder lamina propria mucosae|lamina propria of bladder|bladder lamina propria mucosa|lamina propria mucosae of urinary bladder|urinary bladder lamina propria mucosae FMA:15935|MA:0001695|EMAPA:30088|NCIT:C48940|UMLS:C1706967 uberon owl:Class Contains loose to dense connective tissue, variably sized blood vessels that may be close to epithelium, lymphatics, variable adipose tissue UBERON:0001788 biolink:NamedThing outer limiting layer of retina The row of jucntional complexes between the plasma membranes of rod segments and the Muller glia cells; this barrier separates the layer of inner and outer segments of the rods and cones from the outer nuclear layer and forms a blood-retina barrier[MP]. tmpxe7fu0cj_hp_relaxed.owl blood retina barrier|BRB|outer limiting membrane|outer limiting membrane of retina|external limiting membrane of retina|outer limiting membranes|stratum limitans externum retinae|external limiting lamina of retina|retina outer limiting membrane|retina external limiting lamina|external limiting membrane|stratum limitans externum (retina) EMAPA:36518|NCIT:C33235|UMLS:C1518685|XAO:0003224|FMA:58683|MA:0001309|ZFA:0001331|TAO:0001331 uberon owl:Class CL:1000428 biolink:NamedThing stem cell of epidermis A somatic stem cell that is part of the epidermis. tmpxe7fu0cj_hp_relaxed.owl epidermal stem cell FMA:70541 cell owl:Class UBERON:0011112 biolink:NamedThing tibiofibular joint A joint that connects the tibia and the fibula. tmpxe7fu0cj_hp_relaxed.owl fibulotibial joint|tibiafibular joint|fibulatibial joint FMA:35181 we include location as part of the logical definition to prevent accidental classification of ankle joints as tibiofibular joints uberon owl:Class UBERON:0013509 biolink:NamedThing lumbar vertebra cartilage element A lumbar vertebra endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl lumbar vertebral cartilage condensation group EHDAA2:0001038 uberon owl:Class UBERON:0013510 biolink:NamedThing lumbar vertebra pre-cartilage condensation A lumbar vertebra endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0005749 biolink:NamedThing glomerular tuft The capillary loops of the kidney that normally function as a filtration unit[MP]. tmpxe7fu0cj_hp_relaxed.owl glomerular capillary tuft|glomerulus EMAPA:28239 uberon owl:Class ...Soon afterwards, endothelial cells invade to make a capillary knot-like outgrowth, the glomerular tuft, which goes on to form the glomerulus Neb0051de4508498dadbb59f7a886da71 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0045938 biolink:NamedThing positive regulation of circadian sleep/wake cycle, sleep Any process that activates or increases the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. tmpxe7fu0cj_hp_relaxed.owl stimulation of circadian sleep/wake cycle, sleep|up regulation of circadian sleep/wake cycle, sleep|activation of circadian sleep/wake cycle, sleep|up-regulation of circadian sleep/wake cycle, sleep|upregulation of circadian sleep/wake cycle, sleep|positive regulation of sleep biological_process owl:Class GO:2000107 biolink:NamedThing negative regulation of leukocyte apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of leukocyte apoptotic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of leukocyte apoptosis mah 2010-09-15T01:42:09Z biological_process owl:Class UBERON:0001468 biolink:NamedThing intervertebral joint The joint between adjacent vertebral bodies. May be composed of the nucleus pulposus, annular ligament, and the anterior and posterior longitudinal ligaments. tmpxe7fu0cj_hp_relaxed.owl joint of vertebral body|inter-centrum joint|intervertebral symphysis|inter-vertebral joint|vertebral joint UMLS:C1182940|FMA:25511|EMAPA:37622|MA:0001514|NCIT:C49577 uberon owl:Class FMA has 'intervertebral joint' as a GAT, and has two distinct classes 'intervertebral symphysis' and 'intervertebral syndesmosis', but note that the latter do not connect the centra UBERON:0011371 biolink:NamedThing sternocephalicus muscle The sternocephalicus is a flat muscle and its caudal border is adjacent to the ventral border of the brachiocephalicus. The lateral aspect of this muscle is crossed obliquely by the external jugular vein. It originates as a unit on the first sternebrae. The cranial portion of the muscle divides into two separate sections with different insertion points. These are the sternomastoideus and the sterno-occipitalis. The ventral portion, the sternomastiodeus is the stronger and main continuation of the sternocephalicus, which inserts on the mastoid part of the temporal bone. The thin but wide dorsal segment, the sterno-occipitalis attaches to the dorsal nuchal crest by a thin aponeurosis. The main action provided by the sternocephalicus is movement of the head and neck to the side. Ventral branches of the cervical nerves are attached to this muscle. tmpxe7fu0cj_hp_relaxed.owl sternocephalicus NCIT:C117980 uberon owl:Class UBERON:0003070 biolink:NamedThing trigeminal placode complex A neurogenic placode that arises at the level of the midbrain-hindbrain boundary and develops into a trigeminal ganglion. tmpxe7fu0cj_hp_relaxed.owl profundus placode|trigeminal placode|trigeminal placodes|profundus V placode|trigeminal V placode VHOG:0000109|EHDAA2:0004209|XAO:0000225|TAO:0000162|EFO:0003433|ZFA:0000162 uberon owl:Class The ectodermal rudiment of the trigeminal ganglion, distinguishable during much of the segmentation period. Kimmel et al, 1995.[TAO]|The ectodermal precursor of the trigeminal ganglion. The profundal and the trigeminal ganglia are separate distally but fused at their proximal end as they condense around NF stage 24.[XAO] The dorsolateral placodes (trigeminal and vestibular) develop from ectoderm lateral to the brain (...). In summary, the collective term 'placodes' refers to some rather different structures, probably with different evolutionary origins. Some sensory placodes (at least the otic and olfactory) may have homologues in basal chordates. Even if this is so, it is apparent that they were elaborated considerably during early vertebrate evolution. Epibranchial and dorsolateral placodes appear to be new; we infer that their origin depended on the evolution of specific inductive signals.[well established][VHOG] Consider naming this 'trigeminal placode complex'. Also, Fig9-5 of ISBN:0471888893 calls this the profundus placode; XAO says 'profundal and the trigeminal ganglia are separate distally but fused at their proximal end...' HP:0003596 biolink:NamedThing Middle age onset A type of adult onset with onset of symptoms at the age of 40 to 60 years. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969363 Middle age is of course not amenable to precise definitions. We suggest using this term for onset of disease symptoms between the age of 40 and 60 years. human_phenotype owl:Class HsapDv:0000092 biolink:NamedThing human middle aged stage Late adulthood that refers to an adult who is over 45 and under 65. tmpxe7fu0cj_hp_relaxed.owl 45-64 years human_developmental_stage 65.0 45.0 owl:Class UBERON:0006074 biolink:NamedThing lumbar region of vertebral column Subdivision of vertebral column that corresponds to the lumbar subdivision of the body, containing the lumbar vertebrae. tmpxe7fu0cj_hp_relaxed.owl lumbar vertebral column|lumbar vertebrae series|axial skeleton lumbar region|lumbar skeleton|lumbar spine MA:0003156|GAID:31|BTO:0004147|NCIT:C69314|EHDAA:5055|EMAPA:17393|EHDAA2:0001037|FMA:16203 uberon owl:Class lumbar UBERON:0001917 biolink:NamedThing endothelium of artery An endothelium that is part of an artery [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl arterial endothelium|artery endothelium VHOG:0001215|UMLS:C1179025|NCIT:C49194|EMAPA:35148|AAO:0011013|BTO:0004757|XAO:0000357|MA:0000707|FMA:62116 uberon owl:Class The endothelium is the thin layer of cells that lines the interior surface of blood vessels, forming an interface between circulating blood in the lumen and the rest of the vessel wall.[AAO] Vertebrates and a very few invertebrates such as squids have evolved a secondary epithelium, the endothelium, that lines their blood vessels.[well established][VHOG] UBERON:0008816 biolink:NamedThing embryonic head A head that is part of a embryo. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-0246|FBbt:00000155|FMA:293011 uberon owl:Class HP:0010156 biolink:NamedThing Pseudoepiphysis of the 1st metatarsal tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024003 doelkens 2009-05-29T01:24:17Z human_phenotype owl:Class N2e98d9766b674e1f8e9d714932708620 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009877 biolink:NamedThing metapodium region Intermediate segment of the autopod, between the mesopodial region and and acropodial region. Examples: metacarpal region, metatarsal region. tmpxe7fu0cj_hp_relaxed.owl metacarpal or metatarsal part of limb|equine cannon region|cannon region|metapodium|metacarpus/metatarsus|metacarpus/metatarsus region|metapodial segment considering adding 'acropodial region' uberon owl:Class Naming conventions for pod terms under discussion within phenoscape group Ncbe7756f467043b7a38e4d670d413bb6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N13082246ff4b433d82d85c1732892ff6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0002066 biolink:NamedThing columnar/cuboidal epithelial cell development The process whose specific outcome is the progression of a columnar/cuboidal epithelial cell over time, from its formation to the mature structure. A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0098930 biolink:NamedThing axonal transport The directed movement of organelles or molecules along microtubules in axons. tmpxe7fu0cj_hp_relaxed.owl axon cargo transport|axoplasmic transport Wikipedia:Axoplasmic_transport biological_process owl:Class GO:0030424 biolink:NamedThing axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. tmpxe7fu0cj_hp_relaxed.owl NIF_Subcellular:sao1770195789|Wikipedia:Axon cellular_component owl:Class GO:0044106 biolink:NamedThing cellular amine metabolic process The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group, as carried out by individual cells. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. tmpxe7fu0cj_hp_relaxed.owl jl 2009-07-15T11:55:44Z biological_process owl:Class N69fc7e1b372846b7a3ce90ea7db7a5dd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0035262 biolink:NamedThing gonad morphogenesis The process in which the anatomical structures of the gonads are generated and organized. A gonad is an animal organ producing gametes, e.g. the testes or the ovary in mammals. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Naa8f841c6a4541c98cb2e8cd06ac5bdb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035523 biolink:NamedThing anterior surface of prostate The aspect of the prostate facing the pubic symphysis. tmpxe7fu0cj_hp_relaxed.owl anterior surface of prostate gland|facies anterior (prostatae)|facies anterior prostatae NCIT:C13089|FMA:19591 uberon owl:Class N5d38c28df77b4161b94894157c80b828 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0032289 biolink:NamedThing central nervous system myelin formation The process in which the wraps of cell membrane that constitute myelin are laid down around an axon by an oligodendrocyte in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl myelin formation in central nervous system biological_process owl:Class UBERON:0011927 biolink:NamedThing preganglionic sympathetic fiber A cholinergic axonal fiber projecting from the CNS to a sympathetic ganglion. tmpxe7fu0cj_hp_relaxed.owl sympathetic preganglionic fiber SCTID:323517007 uberon owl:Class UBERON:0035804 biolink:NamedThing future mouth The primordial mouth region of the developing head. tmpxe7fu0cj_hp_relaxed.owl primitive mouth|primordial mouth FMA:293105 uberon owl:Class UBERON:0005462 biolink:NamedThing lower back Subdivision of abdominal segment of trunk which in humans is demarcated from the front of the abdomen by the posterior surface of the anterior layer of the thoracolumbar fascia and the anterior surface of the lumbar vertebral column; together with the front of the abdomen, it constitutes the abdomen[Modified from FMA]. tmpxe7fu0cj_hp_relaxed.owl lower back|lumbar region|lumbos|abdominal back|lumbar part of back|regio lumbalis|back of abdomen|dorsum of abdomen|loin|posterior part of abdomen|lumbar region of back|lombus UMLS:C0024090|NCIT:C34004|FMA:61681|MA:0000027|EMAPA:36623|BTO:0001505 overlaps with region sometimes called 'loin' uberon owl:Class lumbar HP:0012295 biolink:NamedThing Slender middle phalanx of finger Reduced diameter of the middle phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Slender middle bone of finger UMLS:C4022963 peter 2013-04-12T05:40:22Z human_phenotype owl:Class Nb1b913ca720e43b1b8db3abc34f5cc71 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0041087 biolink:NamedThing Compression-fractured lumbar vertebra A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. tmpxe7fu0cj_hp_relaxed.owl Wedge fractured lumbar vertebra|Compression fractured lumbar vertebra owl:Class Nf81523bc8d34492eb72c32302bf19fa7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003720 biolink:NamedThing Generalized muscle hypertrophy Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution. tmpxe7fu0cj_hp_relaxed.owl Generalised muscle hypertrophy|Generalised increase in muscle cell size|Generalized increase in muscle cell size UMLS:C3805639 human_phenotype owl:Class Nae7a4782a1194f049fd301131d18a834 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100915 biolink:NamedThing Sclerosis of distal finger phalanx An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Sclerosis of the distal phalanges of the hand|Increased bone density in outermost finger bone UMLS:C4020940 human_phenotype owl:Class N7505b97798e54830a64768d48168e850 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011970 biolink:NamedThing talofibular ligament A skeletal ligament that connects the fibula to the talus. Examples: anterior and posterior talofibular ligament. tmpxe7fu0cj_hp_relaxed.owl talo-fibular ligament|ligamentum talofibulare FMA:44080 Ankle:en.svg uberon owl:Class CHEBI:16813 biolink:NamedThing galactitol An optically inactive hexitol having meso-configuration. tmpxe7fu0cj_hp_relaxed.owl Dulcitol|Melampyrit|Melampyrin|galactitol|meso-galactitol|Dulcose|D-galactitol|Galactitol|Euonymit|L-galactitol|D-Dulcitol|(2R,3S,4R,5S)-hexane-1,2,3,4,5,6-hexol 0 C6H14O6 InChI=1S/C6H14O6/c7-1-3(9)5(11)6(12)4(10)2-8/h3-12H,1-2H2/t3-,4+,5+,6- FBPFZTCFMRRESA-GUCUJZIJSA-N 182.17180 182.07904 OC[C@H](O)[C@@H](O)[C@@H](O)[C@H](O)CO PMID:23830453|PMID:16901854|PMID:17336832|Reaxys:1721903|PMID:24643482|KNApSAcK:C00001160|PMID:22628202|PMID:17979222|Beilstein:1721903|HMDB:HMDB0000107|Gmelin:83163|PMID:22155165|PMID:16664750|CAS:608-66-2|PMID:21501963|PMID:22654107|Wikipedia:Galactitol|KEGG:C01697 CHEBI:5251|CHEBI:53575|CHEBI:24139|CHEBI:14286 chebi_ontology owl:Class CHEBI:25212 biolink:NamedThing metabolite Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites. tmpxe7fu0cj_hp_relaxed.owl metabolite|metabolites|secondary metabolites|primary metabolites CHEBI:26619|CHEBI:35220 chebi_ontology owl:Class GO:0016787 biolink:NamedThing hydrolase activity Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3. tmpxe7fu0cj_hp_relaxed.owl Reactome:R-HSA-8952137|EC:3.-.-.-|Reactome:R-HSA-8938314|Reactome:R-HSA-5695964|Reactome:R-HSA-6786190|Reactome:R-HSA-5694583|Reactome:R-HSA-6788295|Reactome:R-HSA-2029475|Reactome:R-HSA-1236938 molecular_function owl:Class UBERON:0001691 biolink:NamedThing external ear Part of the ear external to the tympanum (eardrum). It typically consists of a tube (the external auditory meatus) that directs sound waves on to the tympanum, and may also include the external pinna, which extends beyond the skull[GO]. tmpxe7fu0cj_hp_relaxed.owl auricular region|outer ear|auricular region of head|auris externa OpenCyc:Mx4rwOHtXJwpEbGdrcN5Y29ycA|AAO:0011037|FMA:52781|EHDAA:3786|BIRNLEX:1705|EMAPA:16991|EFO:0004221|UMLS:C1269548|VHOG:0000311|MA:0000258|MIAA:0000147|EHDAA2:0000462|MESH:D004431|XAO:0000190|BTO:0002100|UMLS:C0013453|GAID:104|MAT:0000147|EV:0100354|NCIT:C12292 http://upload.wikimedia.org/wikipedia/commons/2/29/Gray907.png uberon owl:Class The external part of the organ, which consists of an outer portion (external auditory meatus) which leads to the tympanum. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] Some species, like Amolops tormotus (Feng et al. 2006), have a cavity in front of the tympanic membrane which is considered to be an ear canal and thus an outer ear. (...) The ancestral lineage of amphibians separated from the mammalian lineage, approximately 350 million years ago, in the paleozoic era. Many of the important developments in the auditory systems emerged after the ancestral paths separated (Manley and Clack 2003). This implies that shared features, like the tympanic middle ear, developed independently in different vertebrate lineages.[uncertain][VHOG] in XAO this includes and is only the tympanum GO:1900425 biolink:NamedThing negative regulation of defense response to bacterium Any process that stops, prevents or reduces the frequency, rate or extent of defense response to bacterium. tmpxe7fu0cj_hp_relaxed.owl negative regulation of antibacterial peptide activity|negative regulation of defense response to bacteria|inhibition of resistance response to pathogenic bacteria|down regulation of defense response to bacteria|inhibition of defence response to bacterium|inhibition of defence response to bacteria|down-regulation of antibacterial peptide activity|inhibition of defence response to pathogenic bacterium, incompatible interaction|inhibition of defense response to bacterium|down regulation of antibacterial peptide activity|downregulation of defence response to bacteria|downregulation of antibacterial peptide activity|down regulation of defense response to bacterium|inhibition of response to pathogenic bacteria (incompatible interaction)|downregulation of defence response to bacterium|downregulation of defense response to bacterium|inhibition of resistance response to pathogenic bacterium|negative regulation of defence response to bacteria|downregulation of defense response to bacteria|down regulation of defence response to bacterium|negative regulation of defense response to bacterium, incompatible interaction|inhibition of response to pathogenic bacterium (incompatible interaction)|negative regulation of defence response to bacterium|inhibition of defence response to pathogenic bacteria, incompatible interaction|down-regulation of defense response to bacteria|down-regulation of defence response to bacteria|inhibition of defense response to bacterium, incompatible interaction|down regulation of defence response to bacteria|down-regulation of defence response to bacterium|inhibition of defense response to bacteria|down-regulation of defense response to bacterium|inhibition of antibacterial peptide activity dhl 2012-04-24T10:12:54Z GO:1902478 biological_process owl:Class GO:0042742 biolink:NamedThing defense response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. tmpxe7fu0cj_hp_relaxed.owl resistance response to pathogenic bacteria|antibacterial peptide activity|defence response to bacterium|defense response to bacterium, incompatible interaction|resistance response to pathogenic bacterium|defence response to bacteria|defense response to bacteria GO:0009816|GO:0042830 biological_process owl:Class CHEBI:27594 biolink:NamedThing carbon atom tmpxe7fu0cj_hp_relaxed.owl carbonium|carbono|Kohlenstoff|carbon|C|carbone|6C|Carbon 0 C InChI=1S/C OKTJSMMVPCPJKN-UHFFFAOYSA-N 12.01070 12.00000 [C] CAS:7440-44-0|WebElements:C|KEGG:C06265 CHEBI:23009|CHEBI:3399 chebi_ontology owl:Class CHEBI:18257 biolink:NamedThing ornithine An alpha-amino acid that is pentanoic acid bearing two amino substituents at positions 2 and 5. tmpxe7fu0cj_hp_relaxed.owl ornithine|2,5-diaminopentanoic acid|DL-Ornithine|2,5-Diaminopentanoic acid|Ornithine|2,5-Diaminovaleric acid|Orn 0 C5H12N2O2 InChI=1S/C5H12N2O2/c6-3-1-2-4(7)5(8)9/h4H,1-3,6-7H2,(H,8,9) AHLPHDHHMVZTML-UHFFFAOYSA-N 132.16106 132.08988 NCCCC(N)C(O)=O KNApSAcK:C00001384|Reaxys:1722296|PMID:22264337|KEGG:C01602|CAS:616-07-9|Gmelin:847696|Beilstein:1722296|PMID:17190852|PMID:15449570 CHEBI:7784 chebi_ontology owl:Class GO:0010842 biolink:NamedThing retina layer formation The process in which the vertebrate retina is organized into three laminae: the outer nuclear layer (ONL), which contains photoreceptor nuclei; the inner nuclear layer (INL), which contains amacrine, bipolar and horizontal cells; and the retinal ganglion cell (RGC) layer. Between the inner and outer nuclear layers, the outer plexiform layer (OPL) contains connections between the photoreceptors and bipolar and horizontal cells. The inner plexiform layer (IPL) is positioned between the INL and the ganglion cell layer and contains the dendrites of RGCs and processes of bipolar and amacrine cells. Spanning all layers of the retina are the radially oriented Mueller glia. tmpxe7fu0cj_hp_relaxed.owl retinal lamination|retinal layer formation biological_process owl:Class UBERON:0037458 biolink:NamedThing hair of neck tmpxe7fu0cj_hp_relaxed.owl neck hair FMA:54242 uberon owl:Class HP:0007392 biolink:NamedThing Excessive wrinkled skin tmpxe7fu0cj_hp_relaxed.owl Excessive wrinkled skin UMLS:C4024890 human_phenotype owl:Class N691dd0bf74074f08ad77a71004e0767a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4ec72722b5f4499faee1fbda0cd1c244 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003413 biolink:NamedThing chondrocyte differentiation involved in endochondral bone morphogenesis The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte that will contribute to the development of a bone. A chondrocyte is a polymorphic cell that forms cartilage. tmpxe7fu0cj_hp_relaxed.owl dph 2009-12-22T08:39:58Z biological_process owl:Class GO:0060351 biolink:NamedThing cartilage development involved in endochondral bone morphogenesis The process whose specific outcome is the progression of the cartilage that will provide a scaffold for mineralization of endochondral bones. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0001640 biolink:NamedThing Cardiomegaly Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. tmpxe7fu0cj_hp_relaxed.owl Enlarged heart|Increased heart size UMLS:C0018800|MSH:D006332|SNOMEDCT_US:8186001 owl:Class Na3f28bf960f0432ba9cd0570e9cc91dc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001572 biolink:NamedThing Macrodontia Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. tmpxe7fu0cj_hp_relaxed.owl Hyperplasia of tooth|Tooth mass excess|Large tooth|Increased width of tooth|Megalodontia|Hypertrophy of tooth|Increased size of tooth UMLS:C4280591|UMLS:C4280592|SNOMEDCT_US:71485000|UMLS:C0266036|UMLS:C4280590 The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased. owl:Class N6a283133f1574359b20ba2c765734a5f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011030 biolink:NamedThing Abnormal blood transition element cation concentration An abnormality of the homeostasis (concentration) of transition element cation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of transition element cation homeostasis UMLS:C4023584 peter 2011-03-04T07:59:31Z human_phenotype owl:Class N9cc7023df20c441b82447bcd9534449a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007367 biolink:NamedThing surface of tongue An anatomical surface that is part of a tongue. tmpxe7fu0cj_hp_relaxed.owl tongue surface SCTID:314870004|FMA:54647 uberon owl:Class N3758214517f046ad849e8f7f90a25cad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:76283 biolink:NamedThing sebacate(2-) A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of suberic acid; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl decanedioate(2-)|C10-DCA(2-)|decanedioate|sebacate -2 C10H16O4 InChI=1S/C10H18O4/c11-9(12)7-5-3-1-2-4-6-8-10(13)14/h1-8H2,(H,11,12)(H,13,14)/p-2 CXMXRPHRNRROMY-UHFFFAOYSA-L 200.23160 200.10596 [O-]C(=O)CCCCCCCCC([O-])=O PMID:21886157|Reaxys:3906061|MetaCyc:CPD-3623 chebi_ontology owl:Class UBERON:0004362 biolink:NamedThing pharyngeal arch 1 The first of the series of pharyngeal arches that develop into jaw bones or their homologs, and their associated nerves and arteries. tmpxe7fu0cj_hp_relaxed.owl visceral arch 1|first visceral arch|1st arch|arcus pharyngeus primus|mandibular arch|first pharyngeal arch|1st visceral arch|branchial arch 1|first branchial arch|1st pharyngeal arch SCTID:308767008|EHDAA2:0000006|ZFA:0001612|NCIT:C34175|EMAPA:16118|MFMO:0000095|AAO:0010364|VHOG:0000296|Wikipedia:First_pharyngeal_arch|CALOHA:TS-2089|TAO:0001595|UMLS:C1517197|EHDAA:573|XAO:0000097|FMA:293019 http://upload.wikimedia.org/wikipedia/commons/2/2d/Gray48.png uberon owl:Class the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel's cartilage, trigeminal nerve, and maxillary artery|The first of the series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of the embryo.[AAO] A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] 1 HP:0031611 biolink:NamedThing Sub-inner limiting membrane hemorrhage A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer. tmpxe7fu0cj_hp_relaxed.owl Sub-inner limiting membrane haemorrhage|Sub-ILM haemorrhage|Sub-ILM hemorrhage 2017-12-16 12:30:06+00:00 Preretinal hemorrhages usually occur at the interface between the posterior hyaloid and inner limiting membrane (ILM). Less frequently, they are located in the superficial retina between the ILM and the retinal nerve fibre layer. These sharply demarcated, dome-shaped hemorrhages show a predilection for the macular region and consequently lead to severe visual impairment. peter owl:Class Nd77b56ae92c44323aa22f22b7aab74b5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014701 biolink:NamedThing extraembryonic vascular system A vascular system that overlaps a umbilical cord and is part of a entire extraembryonic component. tmpxe7fu0cj_hp_relaxed.owl EMAPA:16370|EHDAA2:0000478|VHOG:0001396 uberon owl:Class HP:0010038 biolink:NamedThing Short 2nd metacarpal Short second metacarpal bone because of developmental hypoplasia. tmpxe7fu0cj_hp_relaxed.owl Rudimentary 2nd metacarpal|Shortened 2nd long bone of hand|Hypoplastic 2nd metacarpal UMLS:C4020774|UMLS:C1969397 doelkens 2009-05-27T04:35:04Z HP:0006231 human_phenotype owl:Class Nfa12de02504d4870a966ddd75ea8948e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0025376 biolink:NamedThing Hyperglutaminuria An increased concentration of glutamine in the urine. tmpxe7fu0cj_hp_relaxed.owl Glutaminuria 2017-04-08 13:20:10+00:00 HPO:probinson owl:Class N651c8b867ce4485d830c4c3fa84bfc2e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4a51bc35595e425ca6707f5474b0ff4c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000349 biolink:NamedThing limbic system A set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. tmpxe7fu0cj_hp_relaxed.owl visceral brain OpenCyc:Mx4rwAeba5wpEbGdrcN5Y29ycA|BTO:0000928|GAID:615|MESH:A08.186.211.577|NCIT:C94541|UMLS:C0023715|FMA:242000|CALOHA:TS-1307 includes the hippocampus, amygdala, anterior thalamic nuclei, and limbic cortex, which support a variety of functions including emotion, behavior, long term memory, and olfaction [Wikipedia] Brain:limbicsystem.jpg obsoletion proposes. The current part_of children were chosen as the intersection of what is stated in wikipedia and in the FMA. NIF: We are including Limbic System because it is still used by neuroscientists and others, but as a data annotation term, it is very poor because it is not a clearly defined entity. uberon owl:Class UBERON:0013124 biolink:NamedThing left posterior cardinal vein A posterior cardinal vein that is in_the_left_side_of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl posterior cardinal vein left|left postcardinal vein EHDAA2:0001486|FMA:70316 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0006077 biolink:NamedThing subdivision of vertebral column A collection of all skeletal elements in some subdivision of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl subdivision of vertebral skeleton|vertebral series|vertebrae series|vertebral subdivision|vertebral region|vertebral column subdivision FMA:16201 uberon owl:Class GO:0098988 biolink:NamedThing G protein-coupled glutamate receptor activity Combining with glutamate and transmitting a signal from one side of the membrane to the other by activating an associated G-protein, initiating a change in cell activity. tmpxe7fu0cj_hp_relaxed.owl G-protein coupled glutamate receptor activity molecular_function owl:Class N9caf3eb1494549308b4a53211ef9e051 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001779 biolink:NamedThing iris stroma The delicate vascular connective tissue that lies between the anterior surface of the iris and the pars iridica retinae. tmpxe7fu0cj_hp_relaxed.owl iridial stroma|stroma of iris Wikipedia:Iris_stroma|MA:0002777|ZFA:0005569|FMA:58526|SCTID:280882008|EMAPA:35451 http://upload.wikimedia.org/wikipedia/commons/5/55/Gray883.png uberon owl:Class UBERON:0004288 biolink:NamedThing skeleton Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body. tmpxe7fu0cj_hp_relaxed.owl set of all bones|set of bones of body AEO:0000168|OpenCyc:Mx4rvVi1rpwpEbGdrcN5Y29ycA|MIAA:0000032|MAT:0000032|EHDAA:5047|GAID:177|SCTID:361378004|EMAPA:17213|MESH:D012863|galen:Skeleton|MA:0003006|FMA:23875|VSAO:0000026|XAO:0004053|EHDAA2:0001843|Wikipedia:Skeleton uberon https://github.com/obophenotype/uberon/wiki/The-skeletal-system owl:Class Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body.[VSAO] skeletal UBERON:0003885 biolink:NamedThing mesometrium A mesentery that is part of a uterus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mesentery of uterus MA:0002931|EMAPA:35562|FMA:19816 uberon owl:Class N131e489595944fe29de4de499737a8d4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002532 biolink:NamedThing epiblast (generic) In amniote animal embryology, the epiblast is a tissue type derived either from the inner cell mass in mammals or the blastodisc in birds and reptiles. It lies above the hypoblast. In mammalian embryogenesis, the columnar cells of the epiblast are adjacent to the trophoblast, while the cuboidal cells of the hypoblast are closer to the blastocoele. The epiblast, whilst referred to as the primary ectoderm, differentiates to form all three layers of the trilaminar germ disc in a process called gastrulation[WP]. The outer of the two layers of the blastoderm that form during gastrulation, corresponding to primitive ectoderm during gastrulation and to the definitive ectoderm after gastrulation[ZFA]. tmpxe7fu0cj_hp_relaxed.owl primitive ectoderm|ectoblast|blastocyst|epiblast|epiblastus VHOG:0000243|FMA:296704|BTO:0004593|MIAA:0000067|MAT:0000067|Wikipedia:Epiblast http://upload.wikimedia.org/wikipedia/commons/e/e3/Gray21.png MP says - tissue that gives rise to the ectoderm, endoderm and mesoderm of the embryo proper. In HOG, epiblast is part of primitive streak/blastpore, which is inconsistent with the MP definition of primitive streak as a ridge of the epiblast. Note that these terms, epiblast and hypoblast, are also used to describe layers of the avian embryonic blastoderm, but the layers so-named seem to be altogether different in these two kinds of vertebrate embryos(CVS). Consider obsoleting this as a grouping class uberon owl:Class In pregastrula zebrafish embryos, the epiblast is an inverted cup of cells that sits on top of a large yolk cell. (...) In amniote embryos (mammals and birds), gastrulation initiates in an epithelial layer called the epiblast. Cells in the epiblast undergo an epithelial to mesenchymal transition (EMT), migrate through the primitive streak (PS), and incorporate in the middle (mesoderm) or outer (endoderm) layer. The presumptive definitive endoderm (DE) cells invade and displace an outer layer of extraembryonic tissue cells, the hypoblast in chick and the visceral endoderm (VE) in mouse, which form supporting structures such as the yolk sac.[uncertain][VHOG] HP:0100755 biolink:NamedThing Abnormality of salivation tmpxe7fu0cj_hp_relaxed.owl Abnormal spit|Abnormality of salivation UMLS:C4021978 doelkens 2011-06-07T10:01:04Z human_phenotype owl:Class N10f736a315d04cfe9420a90fbc79b2da biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001698 biolink:NamedThing increased photosensitivity A photosensitivity which is relatively high. tmpxe7fu0cj_hp_relaxed.owl high photosensitivity quality owl:Class Nf33c86bed1804328b9a6869e693a674a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0009792 biolink:NamedThing embryo development ending in birth or egg hatching The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. tmpxe7fu0cj_hp_relaxed.owl embryogenesis biological_process owl:Class UBERON:0004498 biolink:NamedThing skeletal muscle tissue of quadriceps femoris A portion of skeletal muscle tissue that is part of a quadriceps femoris [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:261998 uberon owl:Class GO:0002617 biolink:NamedThing negative regulation of macrophage antigen processing and presentation Any process that stops, prevents, or reduces the frequency, rate, or extent of macrophage antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of macrophage antigen processing and presentation|downregulation of macrophage antigen processing and presentation|down regulation of macrophage antigen processing and presentation|inhibition of macrophage antigen processing and presentation biological_process owl:Class GO:0002472 biolink:NamedThing macrophage antigen processing and presentation The process in which a macrophage expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010709 biolink:NamedThing 2-4 finger syndactyly Syndactyly with fusion of the fingers two to four. tmpxe7fu0cj_hp_relaxed.owl Webbed index through ring fingers|Syndactyly of second to fourth fingers UMLS:C4021236 sdoelken 2010-03-26T05:12:44Z HP:0006018|HP:0005797 owl:Class N26fdd145383e4a54bdea7d0cc0bb5673 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010143 biolink:NamedThing seminal vesicle fluid A bodily secretion that is produced by a seminal vesicle. tmpxe7fu0cj_hp_relaxed.owl seminal vesicle secretion|vesicular fluid|secretion of seminal vesicle|seminal fluid FMA:62969|BTO:0002053|UMLS:C0227987|NCIT:C52552|NCIT:C33529|MA:0002526|UMLS:C0036614 uberon owl:Class constitutes 60-70 % of the ejaculate in humans[MP] important for semen coagulation, sperm motility, and stability of sperm chromatin and suppression of the immune activity in the female reproductive tract[MP] in ncit, seminal fluid is a subtype of seminal vesicle secretion N3796ce34c62547b0b57603db18a10f00 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0014911 biolink:NamedThing positive regulation of smooth muscle cell migration Any process that activates, maintains or increases the frequency, rate or extent of smooth muscle cell migration. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001033 biolink:NamedThing gustatory system The sensory system for the sense of taste. tmpxe7fu0cj_hp_relaxed.owl gustatory organ system|taste system TAO:0001101|MAT:0000275|ZFA:0001101|FMA:7194|EFO:0000830|BILA:0000143|XAO:0003197|MIAA:0000275|MA:0002446|SCTID:423940004|Wikipedia:Gustatory_system|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2889|AAO:0010577|NLXANAT:090803 uberon owl:Class The sensory system for the sense of taste[NLXANAT:090803].|The sensory system used for the sense of taste.[AAO] gustatory in ZFA and MA this is a subtype of sensory system. we should change sensory system to disambiguate parts and wholes N226a9c27a616475685931dde7d598981 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005852 biolink:NamedThing thoracic spinal cord ventral column A subdivision of spinal cord ventral column that is part of a thoracic spinal cord. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0228636|UMLS:C1288556|BIRNLEX:1448 uberon owl:Class UBERON:0003038 biolink:NamedThing thoracic spinal cord The thoracic nerves are the spinal nerves emerging from the thoracic vertebrae. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl thoracic region of spinal cord|thoracic spinal cord|pars thoracica medullae spinalis|thoracic segments of spinal cord [1-12]|thoracic segment of spinal cord|segmenta thoracica medullae spinalis [1-12] FMA:71167|Wikipedia:Thoracic_spinal_cord|MA:0003082|SCTID:278750009|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1718|NCIT:C12894|BIRNLEX:966|UMLS:C0581620 http://upload.wikimedia.org/wikipedia/commons/6/68/Gray820.png uberon owl:Class UBERON:0009521 biolink:NamedThing anal membrane endodermal component An endoderm that is part of a anal region. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004020|EMAPA:17177 uberon owl:Class UBERON:0009972 biolink:NamedThing ureteropelvic junction The junction between the ureter and the renal pelvis of the kidney. tmpxe7fu0cj_hp_relaxed.owl pelviureteric junction|pelvoureteric junction NCIT:C106203|MA:0003021|FMA:15898|EMAPA:37782 uberon owl:Class Nf03b6e0eefee4160819cd3ce8599226e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na7558d8712ba4e7b92641f744fe00fc7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001077 biolink:NamedThing transverse process of vertebra The transverse or costal processes of a vertebra, two in number, project one at either side from the point where the lamina joins the pedicle, between the superior and inferior articular processes. They serve for the attachment of muscles and ligaments. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl processus transversus|vertebra transverse process|diapophyses|diapophysis|processus transversus vertebrae|transverse process AAO:0000698|MA:0001456|FMA:11949|XAO:0003102 http://upload.wikimedia.org/wikipedia/commons/a/a1/Processustransversusvertebrae.PNG uberon owl:Class Projections on each side of the vertebra from the point where the neural arch lamina joins the pedicel for the articulation with the head of a single-headed rib or the upper head of a double-headed rib. Also called diapophyses. They provide surfaces for the attachment of muscles. In anurans, the term transverse process is used in reference to the processes associated with the presacral and postsacral vertebrae. HP:0030388 biolink:NamedThing Decreased proportion of class-switched memory B cells A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. tmpxe7fu0cj_hp_relaxed.owl Decreased proportion of CD19+CD27+IgD- cells UMLS:C4072925 owl:Class N6e9bf7b455c24e9d9a3e6089974abbde biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0061049 biolink:NamedThing cell growth involved in cardiac muscle cell development The growth of a cardiac muscle cell, where growth contributes to the progression of the cell over time from its initial formation to its mature state. tmpxe7fu0cj_hp_relaxed.owl heart muscle cell growth|cardiomyocyte growth|cardiac muscle cell hypertrophy dph 2010-02-25T12:56:07Z biological_process owl:Class N366845b991e0449d9b9ba610ade87028 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060427 biolink:NamedThing lung connective tissue development The biological process whose specific outcome is the progression of lung connective tissue from an initial condition to its mature state. This process begins with the formation of lung connective tissue and ends with the mature structure. The lung connective tissue is a material made up of fibers forming a framework and support structure for the lungs. tmpxe7fu0cj_hp_relaxed.owl pulmonary connective tissue development biological_process owl:Class HP:0009630 biolink:NamedThing Broad proximal phalanx of the thumb Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Broad innermost thumb bone UMLS:C4024267 doelkens 2009-01-29T05:09:41Z human_phenotype owl:Class N71fb64efbb304090a9cbec9826d47d53 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N83ee9fe1baf4464cbc36684046e06f90 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6cc4297bbdd1498f88367818638e499a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0046545 biolink:NamedThing development of primary female sexual characteristics The process whose specific outcome is the progression of the primary female sexual characteristics over time, from their formation to the mature structure. The primary female sexual characteristics are the ovaries, and they develop in response to sex hormone secretion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0046660 biolink:NamedThing female sex differentiation The establishment of the sex of a female organism by physical differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N2b606986b2a64e7c82e96283f5dd8e4c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N66a434675849467db73894321709c6bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009204 biolink:NamedThing medial nasal process mesenchyme Mesenchyme that is part of a medial nasal prominence. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001077|FMA:312659|EMAPA:16810 uberon owl:Class UBERON:0036376 biolink:NamedThing wall of left ureter tmpxe7fu0cj_hp_relaxed.owl left ureteral wall FMA:15890 uberon owl:Class UBERON:0001223 biolink:NamedThing left ureter An ureter that is part of a left side of organism [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl NCIT:C49324|FMA:15572|MA:0001684|EMAPA:37372|UMLS:C0227683 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern PATO:0002444 biolink:NamedThing mineralized tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0003066 biolink:NamedThing pharyngeal arch 2 The second pharyngeal arch will form the hyoid apparatus. The cranial neural crest cells that populate the second pharyngeal arch emerge primarily from rhombomere 4 and will form skeletal elements. tmpxe7fu0cj_hp_relaxed.owl hyoid bars|second pharyngeal arch|2nd pharyngeal arch|arcus pharyngeus secundus|visceral arch 2|branchial arch 2|second branchial arch|pharyngeal arch 2|hyoid arch|pharyngeal arches 2|2nd arch|2nd visceral arch|second visceral arch ZFA:0001611|EHDAA2:0000050|EMAPA:16272|SCTID:308768003|Wikipedia:Second_pharyngeal_arch|TAO:0001596|VHOG:0000297|NCIT:C34288|XAO:0000098|AAO:0010363|EHDAA:611|FMA:293017 http://upload.wikimedia.org/wikipedia/commons/8/8b/Gray41.png uberon owl:Class The second of the series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of the embryo.[AAO] A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] in XAO, develops from visceral pouch 2 2 HP:0100378 biolink:NamedThing Absent distal phalanx of the 3rd toe Developmental aplasia of the distal phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Absent outermost bone of the 3rd toe|Absent distal phalanx of the third toe|Aplasia of the distal phalanx of the 3rd toe UMLS:C4021011 human_phenotype owl:Class Nbc0e907c75724d6d99044f9eb3e98b13 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0990d8ea18f3438aa58488e3278d1d05 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na5d8b72db0c24b38bd846a6c5b96e692 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003278 biolink:NamedThing skeleton of lower jaw A subdivision of the skeleton that corresponds to the lower part of the mouth. The lower jaw skeleton includes the following elements, when present: lower jaw teeth, the mandible and other lower jaw bones, and Meckel's cartilage. tmpxe7fu0cj_hp_relaxed.owl lower jaw skeleton|mandibular series|lower jaw|mandible|mandibles XAO:0003084|TAO:0001273|ZFA:0001273|EHDAA2:0004606|FMA:54398|EHDAA:8005|MA:0001906|AAO:0000274|EMAPA:17910|VHOG:0000428|EMAPA:17906 uberon owl:Class The ventral portion of the first pharyngeal arch, comprising the lower jaw.[TAO] The jaw joint of all jawed vertebrates, except for mammals, involves the quadrate and articular bones, or the posterior ends of the palatoquadrate and mandibular cartilages; A correlate of the conversion of the articular and quadrate bones to the malleus and incus is that all adult mammals have a jaw joint that lies between the dentary of the lower jaw and the squamosal bone of the skull roof.[well established][VHOG] Inclusion of the FMA class 'lower jaw' is debatable - this mostly corresponds to the lower jaw skeleton (with 'maxillary part of mouth' corresponding to the upper jaw region); however, the FMA class also includes gingiva. See also: https://github.com/obophenotype/mouse-anatomy-ontology/issues/102 UBERON:0012249 biolink:NamedThing ectocervix The part of the cervix uteri that protrudes into the vagina and is lined with stratified squamous epithelium. tmpxe7fu0cj_hp_relaxed.owl ectocervix|vaginal part of cervix|portio vaginalis cervicis|uterine ectocervix|portio vaginalis|exocervix FMA:77056|BTO:0001850|UMLS:C0227829|NCIT:C12310|CALOHA:TS-1098|FMA:86484 UBERON:0010182 uberon owl:Class distinction between two FMA classes not clear - we merge them here GO:0005764 biolink:NamedThing lysosome A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Lysosome|NIF_Subcellular:sao585356902 cellular_component owl:Class Nd997882e0ab2411c84365db4ef11744f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N095cd79a7e30430c884c051bcac6a93a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbb0c1e4ae8b24480a234ea54a538b757 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:36149 biolink:NamedThing 2-hydroxyglutarate(1-) A dicarboxylic acid monoanion resulting from the removal of a proton from one of the carboxylic acid groups of 2-hydroxyglutaric acid. tmpxe7fu0cj_hp_relaxed.owl hydrogen 2-hydroxypentanedioate -1 C5H7O5 InChI=1S/C5H8O5/c6-3(5(9)10)1-2-4(7)8/h3,6H,1-2H2,(H,7,8)(H,9,10)/p-1 HWXBTNAVRSUOJR-UHFFFAOYSA-M 147.10610 147.02990 [H+].OC(CCC([O-])=O)C([O-])=O chebi_ontology owl:Class Na310e8923b234881b8675fd8dba0527c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:142163 biolink:NamedThing 24G7 epitope An antigenic epitope recognized by an anti-bilirubin monoclonal antibody designated 24G7. A substructure of bilirubin IXalpha, it is the region containing the oxo group at C-1, the methyl group at C-2, C-(4, 5, 6, 9), and N-21 and -22. tmpxe7fu0cj_hp_relaxed.owl 0 C7H6N2O 134.136 134.04801 C(=CC(NC(=*)*)=*)(NC(C(C)=*)=O)* chebi_ontology owl:Class GO:0098644 biolink:NamedThing complex of collagen trimers A complex of collagen trimers such as a fibril or collagen network. tmpxe7fu0cj_hp_relaxed.owl Supramolecular aggregate of collagen|Supramolecular collagen assembly cellular_component owl:Class UBERON:0011754 biolink:NamedThing genital swelling Paired structures in the embryo that represent the final stage of development of the caudal end of the external genitals before sexual differentiation. In both males and females the two swellings merge: in the female, they become the posterior labial commissure; In the male, they become the scrotum. tmpxe7fu0cj_hp_relaxed.owl tuberculum labioscrotale|labioscrotal swelling VHOG:0000976|EMAPA:30074|EMAPA:35377 todo - add parthood relationships to tubercles uberon owl:Class UBERON:0010701 biolink:NamedThing phalanx cartilage element tmpxe7fu0cj_hp_relaxed.owl phalanx cartilage condensation EMAPA:32721 uberon owl:Class CHEBI:26217 biolink:NamedThing potassium molecular entity tmpxe7fu0cj_hp_relaxed.owl potassium molecular entities|potassium molecular entity chebi_ontology owl:Class GO:0006096 biolink:NamedThing glycolytic process The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP and the reduction of NAD(P) to NAD(P)H. Glycolysis begins with the metabolism of a carbohydrate to generate products that can enter the pathway and ends with the production of pyruvate. Pyruvate may be converted to acetyl-coenzyme A, ethanol, lactate, or other small molecules. tmpxe7fu0cj_hp_relaxed.owl Embden-Meyerhof pathway|anaerobic glycolysis|glycolysis|modifed Embden-Meyerhof pathway|Embden-Meyerhof-Parnas pathway MetaCyc:GLYCOLYSIS-VARIANTS GO:0019641|GO:0019642 biological_process owl:Class GO:0004634 biolink:NamedThing phosphopyruvate hydratase activity Catalysis of the reaction: 2-phospho-D-glycerate = phosphoenolpyruvate + H2O. tmpxe7fu0cj_hp_relaxed.owl gamma-enolase activity|enolase activity|2-phospho-D-glycerate-hydrolase activity|nervous-system specific enolase|2-phosphoglyceric dehydratase activity|2-phospho-D-glycerate hydro-lyase activity|2-phosphoglycerate dehydratase activity|14-3-2-protein|2-phospho-D-glycerate hydro-lyase (phosphoenolpyruvate-forming)|2-phosphoglycerate enolase activity|phosphoenolpyruvate hydratase activity EC:4.2.1.11|Reactome:R-HSA-71660|RHEA:10164|MetaCyc:2PGADEHYDRAT-RXN|Reactome:R-HSA-70494 molecular_function owl:Class UBERON:0004356 biolink:NamedThing apical ectodermal ridge Multilayered ectodermal region at the distal tip of a limb or fin bud necessary for the proper development of the underlying mesenchyme[MP,modified]. Along with the zone of polarizing activity, it is a crucial organizing region during limb development[WP]. tmpxe7fu0cj_hp_relaxed.owl apical epidermal ridge|AER|crista ectodermalis apicalis ZFA:0001702|AAO:0010760|XAO:0004121|NCIT:C34109|UMLS:C1516037|EMAPA:32744|TAO:0002146 note that media, dorsal fins etc have AERs. http://upload.wikimedia.org/wikipedia/commons/5/56/Limbbuddiagram.jpg uberon owl:Class Distal ectodermal thickening which forms along the anterior-posterior limb axis. Signaling from this region influences proximal-distal patterning of the limb. Structure is missing in some lineages (salamanders, Eleutherodactylus coqui) however morphologically their indistinct distal ectoderm may still be involved in signaling.[AAO]|Proliferative region that is part of the developing fin fold or fin.[TAO] relationship loss: subclass proliferative region (TAO:0000098)[TAO] The AER of tetrapods regresses after specification of skeletal progenitors, the AER of teleosts form an elongating fin fold maintaining mesenchyme in plastic proliferating state; maintaining expression of A-P axis genes; interacting with D-V proteins. Genes: AER induced by Fgf10 in mesenchyme. AER secretes Fgf8, which stimulates mitosis in the mesenchyme causing Fgf10 production - positive feedback loop GO:0010464 biolink:NamedThing regulation of mesenchymal cell proliferation Any process that modulates the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Ne07b62f50586432299ee12526ceb413a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0001764 biolink:NamedThing neuron migration The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. tmpxe7fu0cj_hp_relaxed.owl neuronal migration|neuron chemotaxis|neuron guidance Wikipedia:Neural_development#Neuron_migration|Wikipedia:Neuron_migration biological_process owl:Class HP:0500251 biolink:NamedThing Abnormal urine sebacic acid concentration Abnormal concentration of sebacic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Abnormal urine decanedioic acid concentration 2019-03-08 19:58:13+00:00 owl:Class N597039a194424a6982cacb55505ea90f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006757 biolink:NamedThing lateral lingual swelling During the third week there appears, immediately behind the ventral ends of the two halves of the mandibular arch, a rounded swelling named the tuberculum impar, which was described by His as undergoing enlargement to form the buccal part of the tongue. More recent researches, however, show that this part of the tongue is mainly, if not entirely, developed from a pair of lateral swellings (or distal tongue bud) which rise from the inner surface of the mandibular arch and meet in the middle line. tmpxe7fu0cj_hp_relaxed.owl lateral swellings|tuberculum linguale laterale|tuberculum laterale|lateral lingual prominence Wikipedia:Lateral_lingual_swelling|EMAPA:17189|FMA:313628|EHDAA2:0000911|VHOG:0000731 http://upload.wikimedia.org/wikipedia/commons/5/5c/Gray979.png uberon owl:Class Most adult amphibians have a tongue, as do all known reptiles, birds and mammals. Thus it is likely that the tongue appeared with the establishment of tetrapods and this structure seems to be related, to some extant, to the terrestrial lifestyle.[well established][VHOG] paired UBERON:0006260 biolink:NamedThing lingual swellings tmpxe7fu0cj_hp_relaxed.owl lingual swelling EHDAA2:0000996|EMAPA:17186|VHOG:0000449 the collection consisting of the two lateral swellings and the medial swelling uberon owl:Class Primordium of the tongue; the median swelling and the distal and proximal swellings arise from the ventral aspect of the stomodeum. [TFD][VHOG] Most adult amphibians have a tongue, as do all known reptiles, birds and mammals. Thus it is likely that the tongue appeared with the establishment of tetrapods and this structure seems to be related, to some extant, to the terrestrial lifestyle.[well established][VHOG] N9ea4ab44adc04895a17fce1fa97b9bff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004849 biolink:NamedThing respiratory system venous endothelium An endothelium of vein that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl respiratory system endothelium of vein|venous endothelium of apparatus respiratorius|vein endothelium of apparatus respiratorius|endothelium of vein of apparatus respiratorius|venous endothelium of respiratory system|endothelium of vein of respiratory system|respiratory system vein endothelium|vein endothelium of respiratory system|apparatus respiratorius vein endothelium|apparatus respiratorius endothelium of vein|apparatus respiratorius venous endothelium EMAPA:37585|MA:0001811 uberon owl:Class UBERON:0003476 biolink:NamedThing respiratory system venous blood vessel A vein that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl apparatus respiratorius vein|respiratory system vein|vein of apparatus respiratorius|vein of respiratory system MA:0001809|MA:0001810|EMAPA:37584 uberon owl:Class UBERON:0011846 biolink:NamedThing acinus of sebaceous gland An acinus that is part of a sebaceous gland. tmpxe7fu0cj_hp_relaxed.owl sebaceous gland acinus FMA:59657 uberon owl:Class GO:0035911 biolink:NamedThing descending aorta morphogenesis The process in which the anatomical structures of the descending aorta are generated and organized. The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries. In a two-pass circulatory system blood passes twice through the heart to supply the body once. tmpxe7fu0cj_hp_relaxed.owl bf 2011-06-24T11:19:24Z biological_process owl:Class GO:0035909 biolink:NamedThing aorta morphogenesis The process in which the anatomical structures of an aorta are generated and organized. An aorta is an artery that carries blood from the heart to other parts of the body. tmpxe7fu0cj_hp_relaxed.owl bf 2011-06-24T11:11:11Z biological_process owl:Class PATO:0000608 biolink:NamedThing closed A morphological quality inhering in a bearer by virtue of the bearer's affording blocked passage or view. tmpxe7fu0cj_hp_relaxed.owl blocked quality owl:Class UBERON:0014695 biolink:NamedThing deep auricular artery The deep auricular artery often arises in common with the anterior tympanic artery. It ascends in the substance of the parotid gland, behind the temporomandibular articulation, pierces the cartilaginous or bony wall of the external acoustic meatus, and supplies its cuticular lining and the outer surface of the tympanic membrane. It gives a branch to the temporomandibular joint. tmpxe7fu0cj_hp_relaxed.owl FMA:49689 uberon owl:Class CL:0002043 biolink:NamedThing CD34-positive, CD38-negative multipotent progenitor cell A hematopoietic multipotent progenitor cell that is CD34-positive, CD38-negative, CD45RA-negative, and CD90-negative. tmpxe7fu0cj_hp_relaxed.owl Cell markers are associated with human hematopoietic multipotent progenitor cells. tmeehan 2010-01-12T11:14:15Z cell owl:Class GO:0098793 biolink:NamedThing presynapse The part of a synapse that is part of the presynaptic cell. tmpxe7fu0cj_hp_relaxed.owl presynaptic terminal cellular_component owl:Class CL:0001024 biolink:NamedThing CD34-positive, CD38-negative hematopoietic stem cell CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive. tmpxe7fu0cj_hp_relaxed.owl CD133-positive hematopoietic stem cell CALOHA:TS-0448|FMA:86475 Cell markers are associated with human hematopoietic stem cells. Originally described in the dendritic cell ontology (DC_CL:0000035)(PMID:19243617). cell owl:Class UBERON:0005109 biolink:NamedThing metanephric smooth muscle tissue Any smooth muscle tissue that is part of a metanephros. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class CL:0002064 biolink:NamedThing pancreatic acinar cell A secretory cell found in pancreatic acini that secretes digestive enzymes and mucins. This cell is a typical zymogenic cell, have a basal nucleus and basophilic cytoplasm consisting of regular arrays of granular endoplasmic reticulum with mitochondria and dense secretory granules. tmpxe7fu0cj_hp_relaxed.owl acinar cell of pancreas BTO:0000028|CALOHA:TS-0737|FMA:63032 tmeehan 2010-06-24T03:16:29Z cell owl:Class N2c7479ed7a7546ec85389c0672298349 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0045600 biolink:NamedThing positive regulation of fat cell differentiation Any process that activates or increases the frequency, rate or extent of adipocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of adipocyte cell differentiation|positive regulation of adipocyte differentiation|up regulation of fat cell differentiation|upregulation of fat cell differentiation|stimulation of fat cell differentiation|up-regulation of fat cell differentiation|activation of fat cell differentiation biological_process owl:Class GO:0045444 biolink:NamedThing fat cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat. tmpxe7fu0cj_hp_relaxed.owl adipocyte cell differentiation|adipose cell differentiation|adipogenesis|adipocyte differentiation biological_process owl:Class Ne46eadaadb4144d5ac427dca9f755627 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:8410008 biolink:NamedThing venule of anorectum A venule that is located in the anorectum. tmpxe7fu0cj_hp_relaxed.owl anorectum venule http://orcid.org/0000-0002-2825-0621 uberon owl:Class N1f682b22ef49478f9cd703fa02e18ab6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:43474 biolink:NamedThing hydrogenphosphate A phosphate ion that is the conjugate base of dihydrogenphosphate. tmpxe7fu0cj_hp_relaxed.owl hydrogenphosphate|hydrogen(tetraoxidophosphate)(2-)|INORGANIC PHOSPHATE GROUP|phosphate|[PO3(OH)](2-)|HYDROGENPHOSPHATE ION|[P(OH)O3](2-)|HPO4(2-)|hydrogentetraoxophosphate(2-)|hydroxidotrioxidophosphate(2-)|hydrogen phosphate|hydrogentetraoxophosphate(V) -2 HO4P InChI=1S/H3O4P/c1-5(2,3)4/h(H3,1,2,3,4)/p-2 NBIIXXVUZAFLBC-UHFFFAOYSA-L 95.97930 95.96234 OP([O-])([O-])=O MolBase:1628|PDBeChem:PO4|PDBeChem:PI|Gmelin:1998 CHEBI:43470|CHEBI:29139 chebi_ontology owl:Class GO:0003245 biolink:NamedThing cardiac muscle tissue growth involved in heart morphogenesis The developmental growth of cardiac muscle tissue that contributes to the shaping of the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T11:44:21Z biological_process owl:Class CHEBI:57887 biolink:NamedThing tryptaminium An ammonium ion that is the conjugate acid of tryptamine arising from protonation of the primary amino group; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl tryptamine|2-(1H-indol-3-yl)ethanaminium|tryptaminium(1+)|tryptaminium cation +1 C10H13N2 InChI=1S/C10H12N2/c11-6-5-8-7-12-10-4-2-1-3-9(8)10/h1-4,7,12H,5-6,11H2/p+1 APJYDQYYACXCRM-UHFFFAOYSA-O 161.22310 161.10732 [NH3+]CCc1c[nH]c2ccccc12 Gmelin:533978 chebi_ontology owl:Class GO:0003330 biolink:NamedThing regulation of extracellular matrix constituent secretion Any process that modulates the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. tmpxe7fu0cj_hp_relaxed.owl dph 2009-11-02T02:07:40Z biological_process owl:Class Nbe0e54b091384fff9f20e8f074ebb5e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004347 biolink:NamedThing Weakness of muscles of respiration Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025347 peter 2008-03-11T08:03:00Z human_phenotype owl:Class N7a3a69e01eb94b86a6b1aa6b34bf3311 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:49637 biolink:NamedThing hydrogen atom tmpxe7fu0cj_hp_relaxed.owl hydrogene|hidrogeno|H|Wasserstoff|hydrogen|1H 0 H InChI=1S/H YZCKVEUIGOORGS-UHFFFAOYSA-N 1.00794 1.00783 [H] WebElements:H CHEBI:49636|CHEBI:24634 chebi_ontology owl:Class UBERON:0002925 biolink:NamedThing trigeminal nucleus A nucleus of brain that is part of a trigeminal nuclear complex. tmpxe7fu0cj_hp_relaxed.owl trigeminal V nucleus|nucleus mesencephalicus trigeminalis|nucleus of trigeminal nuclear complex|nucleus mesencephalicus nervi trigemini|trigeminal nuclear complex nucleus|trigeminal nucleus|nucleus tractus mesencephali nervi trigeminalis EMAPA:35883|VHOG:0001353|EV:0100271|MESH:D014278|GAID:604|SCTID:280164007|BTO:0001074|UMLS:C0040999|http://uri.neuinfo.org/nif/nifstd/nifext_11|CALOHA:TS-2077|MA:0001028|NCIT:C12807|FMA:71247|BM:V uberon owl:Class massive inconsistencies between GO, MA, wikipedia. Part of pons in MA, but this leads to inconsistencies with ABA. GO:0003214 biolink:NamedThing cardiac left ventricle morphogenesis The process in which the left cardiac ventricle is generated and organized. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T09:50:08Z biological_process owl:Class CHEBI:17544 biolink:NamedThing hydrogencarbonate The carbon oxoanion resulting from the removal of a proton from carbonic acid. tmpxe7fu0cj_hp_relaxed.owl HCO3(-)|Hydrogencarbonate|hydrogencarbonate(1-)|hydrogentrioxocarbonate(IV)|hydrogentrioxocarbonate(1-)|[CO2(OH)](-)|HCO3-|hydrogencarbonate|hydroxidodioxidocarbonate(1-)|BICARBONATE ION|Bicarbonate|hydrogen carbonate|hydrogen(trioxidocarbonate)(1-)|Acid carbonate -1 CHO3 InChI=1S/CH2O3/c2-1(3)4/h(H2,2,3,4)/p-1 BVKZGUZCCUSVTD-UHFFFAOYSA-M 61.01684 60.99312 OC([O-])=O PMID:29460248|PMID:4208463|PMID:18439416|PMID:29150416|PMID:28732801|Gmelin:49249|PMID:29466234|PMID:17505962|Beilstein:3903504|MetaCyc:HCO3|PDBeChem:BCT|KEGG:C00288|PMID:17215880|HMDB:HMDB0000595|CAS:71-52-3|Wikipedia:Bicarbonate CHEBI:22863|CHEBI:5589|CHEBI:13363|CHEBI:40961 chebi_ontology owl:Class CHEBI:33721 biolink:NamedThing carbohydrate acid anion tmpxe7fu0cj_hp_relaxed.owl carbohydrate acid anions|carbohydrate acid anion chebi_ontology owl:Class HP:0003234 biolink:NamedThing Decreased plasma carnitine A decreased concentration of carnitine in the blood. tmpxe7fu0cj_hp_relaxed.owl Carnitine deficiency|Decreased plasma carnitine SNOMEDCT_US:421784001|UMLS:C1142132 Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria. owl:Class Ncef5f584a26c43d1aa5bfe578b77b1d5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012070 biolink:NamedThing Chondroitin sulfate excretion in urine An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine. tmpxe7fu0cj_hp_relaxed.owl Chondroitin sulphate excretion in urine UMLS:C4023059 Chondroitin sulfate refers to a class of 10-60 kDa glycosaminoglycan sulfates, which are widely distributed in cartilage. hecht 2012-08-04T03:22:36Z human_phenotype owl:Class Ndc69f6287c824585b60b729a0cf491b5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010402 biolink:NamedThing Triangular shaped proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Triangular shaped innermost 2nd toe bone UMLS:C4023852 doelkens 2009-07-16T11:58:15Z human_phenotype owl:Class N0ec302711cdc48f99bc62fdca8afaad6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0035906 biolink:NamedThing descending aorta development The progression of the descending aorta over time, from its initial formation to the mature structure. The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries. In a two-pass circulatory system blood passes twice through the heart to supply the body once. tmpxe7fu0cj_hp_relaxed.owl bf 2011-06-24T11:05:22Z biological_process owl:Class HP:0040256 biolink:NamedThing Aplastic/Hypoplastic nasopharyngeal adenoids Absence or underdevelopment of the nasopharyngeal adenoids. tmpxe7fu0cj_hp_relaxed.owl Adenoids small or absent UMLS:C4280290 owl:Class Ndc9d34c0aa37430f88beb87005b0b9b8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbf3ee6047e2e49bfb8a2c04af371fdd3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0035051 biolink:NamedThing cardiocyte differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cell that will form part of the cardiac organ of an individual. tmpxe7fu0cj_hp_relaxed.owl heart cell differentiation|cardiac cell differentiation biological_process owl:Class HP:0008988 biolink:NamedThing Pelvic girdle muscle atrophy Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles). tmpxe7fu0cj_hp_relaxed.owl Pelvic girdle muscle wasting UMLS:C0240679 HP:0008992 human_phenotype owl:Class N5c51e6c1975f4c8185d0e863c530bce8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0015711 biolink:NamedThing organic anion transport The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0010394 biolink:NamedThing lymphocyte domain tmpxe7fu0cj_hp_relaxed.owl TODO - check uberon https://github.com/obophenotype/uberon/issues/513 owl:Class UBERON:0013766 biolink:NamedThing epicanthal fold A fold of skin of the upper eyelid that partially covers the inner corner of the eye. tmpxe7fu0cj_hp_relaxed.owl medial canthic fold|epicanthus|eye fold|palpebronasal fold|plica palpebronasalis|epicanthic fold FMA:59370 uberon owl:Class UBERON:0001712 biolink:NamedThing upper eyelid tmpxe7fu0cj_hp_relaxed.owl superior eyelid|palpebra superior UMLS:C0585636|EHDAA2:0002115|FMA:54439|MA:0001267|EHDAA:9047|EMAPA:17834|OpenCyc:Mx4rvg4ohJwpEbGdrcN5Y29ycA|NCIT:C49581|VHOG:0000389 Eye:makeup.jpg uberon owl:Class A tetrapod's eye usually has one or more eyelids that can move across its surface and protect and cleanse it. The eye of lissamphibians has a stationary upper eyelid but a movable and transparent lower one.[well established][VHOG] NBO:0001845 biolink:NamedThing consumption behavior "Behavior related to the intake of substances." [NBOC:GVG] tmpxe7fu0cj_hp_relaxed.owl ingest George Gkoutos owl:Class HP:0001092 biolink:NamedThing Absent lacrimal punctum No identifiable superior and/or inferior lacrimal punctum. tmpxe7fu0cj_hp_relaxed.owl Absent lacrimal gland puncta|Absent lacrimal puncta|Lacrimal punctum, absence|Aplasia of lacrimal puncta|Agenesis of the lacrimal punctum|Absent lacrimal openings|Lacrimal puncta aplasia SNOMEDCT_US:253217007|MSH:C566703|UMLS:C0344509|SNOMEDCT_US:204208005|UMLS:C1867060 The lacrimal puncta (openings of the tear ducts) are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. HP:0007977 human_phenotype owl:Class N53e022a8b6b74b18919616b21a43525e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040142 biolink:NamedThing Reduced 5-oxoprolinase level Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. tmpxe7fu0cj_hp_relaxed.owl 5-oxoprolinase deficiency UMLS:C0268525|SNOMEDCT_US:26132002|MSH:C535322 HPO:skoehler owl:Class N9da3d7f0938142fe92a0b4c227e242b8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0070228 biolink:NamedThing regulation of lymphocyte apoptotic process Any process that modulates the occurrence or rate of lymphocyte death by apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of lymphocyte apoptosis Note that a lymphocyte is a cell of the B cell, T cell, or natural killer cell lineage (CL:0000542). biological_process owl:Class HP:0040040 biolink:NamedThing Toenail onycholysis Painless and spontaneous separation of a toenail from the nail bed. tmpxe7fu0cj_hp_relaxed.owl Detachment of toenails|Onycholysis of toenails UMLS:C4022476 HPO:skoehler owl:Class N48a36d93c68340409eca778034910dc4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0007617 biolink:NamedThing mating behavior The behavioral interactions between organisms for the purpose of mating, or sexual reproduction resulting in the formation of zygotes. tmpxe7fu0cj_hp_relaxed.owl mating behaviour Wikipedia:Mating_behaviour biological_process owl:Class GO:0007618 biolink:NamedThing mating The pairwise union of individuals for the purpose of sexual reproduction, ultimately resulting in the formation of zygotes. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0010838 biolink:NamedThing positive regulation of keratinocyte proliferation Any process that increases the rate, frequency or extent of keratinocyte proliferation. Keratinocyte proliferation is the multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0004391 biolink:NamedThing epiphysis of first metacarpal bone An epiphysis that is part of a metacarpal bone of digit 1 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl first metacarpal bone epiphysis|metacarpal 1 epiphysis FMA:33793 uberon owl:Class HP:0000890 biolink:NamedThing Long clavicles Increased length of the clavicles. tmpxe7fu0cj_hp_relaxed.owl Long collarbone|Elongated clavicles UMLS:C0426808|SNOMEDCT_US:249687007 HP:0006592 owl:Class N974303c6dc92420592d868a80f324c7b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100513 biolink:NamedThing Low levels of vitamin E A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol. tmpxe7fu0cj_hp_relaxed.owl Alpha-tocopherol deficiency|Vitamin E deficiency SNOMEDCT_US:54137008|UMLS:C0042875|MSH:D014811 doelkens 2010-12-17T06:20:12Z human_phenotype owl:Class N72dea244547d482cafa9d7696588aaa1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008338 biolink:NamedThing plantar part of pes The sole is the bottom of the foot. tmpxe7fu0cj_hp_relaxed.owl pelma|sole of foot|sole of the foot|plantar region|sole|planta|soles of the feet|regio plantaris|plantar part of foot BTO:0005078|NCIT:C33326|CALOHA:TS-0379|UMLS:C0230463|galen:SoleOfFoot|FMA:25000 http://upload.wikimedia.org/wikipedia/commons/4/41/Soles2.jpg uberon owl:Class In humans is the sole of the foot anatomically referred to as the plantar aspect. The equivalent surface in ungulates is the hoof Nd939be46709d47f1938b76e28395fad0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002570 biolink:NamedThing Steatorrhea Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. tmpxe7fu0cj_hp_relaxed.owl Greasy stools|Fat in faeces|Fat in feces|Fatty stool SNOMEDCT_US:66187002|MSH:D045602|SNOMEDCT_US:27868004|UMLS:C0038238 owl:Class N55ba6302426743ebae02a7bb56723dff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0043025 biolink:NamedThing neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. tmpxe7fu0cj_hp_relaxed.owl neuronal cell soma|neuron cell body NIF_Subcellular:sao1044911821|Wikipedia:Soma_(biology) Note that 'cell body' and 'cell soma' are not used in the literature for cells that lack projections, nor for some cells (e.g. yeast with mating projections) that do have projections. cellular_component owl:Class HP:0008441 biolink:NamedThing Herniation of intervertebral nuclei The presence of one or more herniated nucleus pulposus of intervertebral disk. tmpxe7fu0cj_hp_relaxed.owl Herniated disc|Herniated intervertebral nuclei|Herniated disk UMLS:C0021818|UMLS:C1832597|SNOMEDCT_US:73589001|MSH:D007405 human_phenotype owl:Class N9c08ef419e1744b1ab4dc806b2533520 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003468 biolink:NamedThing ureteric segment of renal artery The ureteral branches of renal artery are small branches which supply the ureter. tmpxe7fu0cj_hp_relaxed.owl ureteric artery FMA:70491|EMAPA:37676|MA:0002074 uberon owl:Class Nd1d8f85ce05f4718bdeb5ca0cc9a77d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003418 biolink:NamedThing mesenchyme of submandibular gland Mesenchyme that is part of a developing submandibular gland [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl submaxillary gland mesenchyme|submandibular gland mesenchyme EMAPA:18814|VHOG:0001110 uberon owl:Class UBERON:0010063 biolink:NamedThing tympanic cavity epithelium tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004116 uberon owl:Class HP:0008423 biolink:NamedThing Spinal dysplasia The presence of developmental dysplasia of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021853 human_phenotype owl:Class Ncdc82e71d6344748815c6376e64d2257 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0045901 biolink:NamedThing positive regulation of translational elongation Any process that activates or increases the frequency, rate or extent of translational elongation. tmpxe7fu0cj_hp_relaxed.owl up regulation of translational elongation|up-regulation of translational elongation|stimulation of translational elongation|activation of translational elongation|upregulation of translational elongation biological_process owl:Class GO:0006414 biolink:NamedThing translational elongation The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. tmpxe7fu0cj_hp_relaxed.owl translation elongation|protein synthesis elongation GO:0006455|GO:0006442 biological_process owl:Class CHEBI:32862 biolink:NamedThing L-prolinate An optically active form of prolinate having L-configuration. tmpxe7fu0cj_hp_relaxed.owl L-proline anion|(2S)-pyrrolidine-2-carboxylate|L-prolinate -1 C5H8NO2 InChI=1S/C5H9NO2/c7-5(8)4-2-1-3-6-4/h4,6H,1-3H2,(H,7,8)/p-1/t4-/m0/s1 ONIBWKKTOPOVIA-BYPYZUCNSA-M 114.12250 114.05605 [O-]C(=O)[C@@H]1CCCN1 Beilstein:4307988|Gmelin:82610|Reaxys:4307988 chebi_ontology owl:Class HP:0100539 biolink:NamedThing Periorbital edema Edema affecting the region situated around the orbit of the eye. tmpxe7fu0cj_hp_relaxed.owl Periorbital oedema|Periorbital cellulitis UMLS:C0151205|UMLS:C0424810|SNOMEDCT_US:267041004|SNOMEDCT_US:109245003|SNOMEDCT_US:49563000|UMLS:C0149754 doelkens 2010-12-20T06:09:04Z human_phenotype owl:Class N6ed19cf838d8452c82b9acf9491a1b70 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003460 biolink:NamedThing arm bone A bone that is part of the region of the forelimb that includes the zeugopod and stylopod. Examples: patella, femur, tibia. tmpxe7fu0cj_hp_relaxed.owl bone organ of arm|arm bone organ|bone of arm|bone of upper extremity OpenCyc:Mx4rwKTXoJwpEbGdrcN5Y29ycA|MA:0000592|EMAPA:37303 uberon owl:Class UBERON:0034932 biolink:NamedThing epithelium of biliary system The epithelial layer covering the biliary system. This includes the epithelium of the gallbladder (when present) as well as the intrahepatic and extrahepatic bile ducts. tmpxe7fu0cj_hp_relaxed.owl biliary epithelium|biliary system epithelium|biliary tract epithelium BTO:0001513 uberon owl:Class GO:1901166 biolink:NamedThing neural crest cell migration involved in autonomic nervous system development Any neural crest cell migration that is involved in autonomic nervous system development. tmpxe7fu0cj_hp_relaxed.owl vk 2012-07-19T08:39:56Z biological_process owl:Class GO:0048483 biolink:NamedThing autonomic nervous system development The process whose specific outcome is the progression of the autonomic nervous system over time, from its formation to the mature structure. The autonomic nervous system is composed of neurons that are not under conscious control, and is comprised of two antagonistic components, the sympathetic and parasympathetic nervous systems. The autonomic nervous system regulates key functions including the activity of the cardiac (heart) muscle, smooth muscles (e.g. of the gut), and glands. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100172 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the outermost bone of the 4th toe UMLS:C4022249 doelkens 2010-06-24T04:53:36Z human_phenotype owl:Class N18fd7cbe92a347239a8059692dd3da5b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N490429b7f8e148c09da51ed2f28f89e1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500181 biolink:NamedThing Hypertaurinemia An increased amount of taurine in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased circulating taurine levels in the blood|Elevated serum taurine levels 2019-02-22 17:28:00+00:00 owl:Class Nec40213e21a64a0491aa0991341124a5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0036523 biolink:NamedThing wall of vagina tmpxe7fu0cj_hp_relaxed.owl vaginal wall FMA:19971 uberon owl:Class Nbebe2436942e4a87aece056c5af2e2a1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na34f9910f7b34213b6a6e0f19e554521 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001731 biolink:NamedThing cavity of pharynx An anatomical space that is enclosed by a pharynx. tmpxe7fu0cj_hp_relaxed.owl lumen of pharynx|cavitas pharyngealis|pharyngeal cavity|cavitas pharyngis BSA:0000113|AAO:0010435|BTO:0002097|EMAPA:18381|SCTID:180543003|FMA:54935|XAO:0000105 uberon owl:Class See notes for pharynx - as a grouping class this is probably too bad. We exclude WBbt:0005790 (pharyngeal lumen) because of the developmental relationship TOODO check GO:1902113 biolink:NamedThing nucleotide phosphorylation involved in DNA repair Any nucleotide phosphorylation that is involved in DNA repair. tmpxe7fu0cj_hp_relaxed.owl al 2013-05-13T08:56:02Z biological_process owl:Class GO:0055007 biolink:NamedThing cardiac muscle cell differentiation The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. tmpxe7fu0cj_hp_relaxed.owl cardiomyocyte differentiation|heart muscle cell differentiation biological_process owl:Class GO:0140354 biolink:NamedThing lipid import into cell The directed movement of a lipid from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. tmpxe7fu0cj_hp_relaxed.owl lipid uptake pg 2019-05-22T11:38:15Z biological_process owl:Class UBERON:0007425 biolink:NamedThing decussation of diencephalon A neural decussation that is part of a diencephalon. tmpxe7fu0cj_hp_relaxed.owl diencephalon decussation FMA:62446 uberon owl:Class GO:0048592 biolink:NamedThing eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. tmpxe7fu0cj_hp_relaxed.owl GO:0048748 biological_process owl:Class UBERON:0010737 biolink:NamedThing distal tarsal bone 4 Endochondral tarsal bone articulating with centralia and metatarsal 4. tmpxe7fu0cj_hp_relaxed.owl cuboideum|distal tarsal 4|os tarsale IV|os cuboideum|tarsal 4 AAO:0000932|VSAO:0005055 We need to restrict the logical definition such that it is *only* connecting to metatarsal 4 uberon owl:Class Small element that articulates anteriorly with metatarsal IV. It may be absent in some taxa.[AAO] NominaAnatomicaVeterinaria uses os cuboideum as an official synonym for distal tarsal IV, but some sources also use this as the label for the human cuboid bone which is regarded to be formed from tarsals IV and V. We therefore decline to use exact syns in either case. UBERON:0005838 biolink:NamedThing fasciculus of brain A fascicle that is part of a brain. tmpxe7fu0cj_hp_relaxed.owl brain fasciculus FMA:83844 uberon owl:Class GO:0090358 biolink:NamedThing positive regulation of tryptophan metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. tmpxe7fu0cj_hp_relaxed.owl positive regulation of tryptophan metabolism tb 2010-06-29T02:38:48Z biological_process owl:Class GO:0090070 biolink:NamedThing positive regulation of ribosome biogenesis Any process that increases the rate, frequency or extent of ribosome biogenesis. Ribosome biogenesis is the cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits. tmpxe7fu0cj_hp_relaxed.owl tb 2009-09-11T10:32:17Z biological_process owl:Class N091e6238f58a4d9b8dd7c04fa905f0f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:29988 biolink:NamedThing L-glutamate(2-) An L-alpha-amino acid anion that is the dianion obtained by the deprotonation of the both the carboxy groups of L-glutamic acid. tmpxe7fu0cj_hp_relaxed.owl L-glutamate|L-glutamate(2-)|(2S)-2-aminopentanedioate|L-glutamic acid dianion -2 C5H7NO4 InChI=1S/C5H9NO4/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H,7,8)(H,9,10)/p-2/t3-/m0/s1 WHUUTDBJXJRKMK-VKHMYHEASA-L 145.11342 145.03860 N[C@@H](CCC([O-])=O)C([O-])=O Gmelin:327905 chebi_ontology owl:Class CHEBI:29989 biolink:NamedThing D-glutamate(2-) tmpxe7fu0cj_hp_relaxed.owl D-glutamate|D-glutamate(2-)|D-glutamic acid dianion|(2R)-2-aminopentanedioate -2 C5H7NO4 InChI=1S/C5H9NO4/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H,7,8)(H,9,10)/p-2/t3-/m1/s1 WHUUTDBJXJRKMK-GSVOUGTGSA-L 145.11342 145.03860 N[C@H](CCC([O-])=O)C([O-])=O Gmelin:327904|Beilstein:8143000 chebi_ontology owl:Class HP:3000062 biolink:NamedThing Abnormal internal carotid artery morphology An abnormality of an internal carotid artery. tmpxe7fu0cj_hp_relaxed.owl Abnormality of internal carotid artery UMLS:C1860488 vasilevs 2015-08-07T03:19:02Z owl:Class N79f793cbcfa24f399b63a86c2e1a07cf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0043363 biolink:NamedThing nucleate erythrocyte differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte with a nucleus, as found in non-mammalian vertebrates such as birds. tmpxe7fu0cj_hp_relaxed.owl nucleate RBC differentiation|nucleate red blood cell differentiation biological_process owl:Class HP:0005255 biolink:NamedThing Absence of pectoralis minor muscle Aplasia (congenital absence) of the pectoralis minor. tmpxe7fu0cj_hp_relaxed.owl Pectoralis minor aplasia UMLS:C1868158 human_phenotype owl:Class N5106ac401bd743159ff36e92cca1e459 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009344 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of the outermost long bone of the middle finger UMLS:C4024423 doelkens 2009-01-12T11:18:33Z human_phenotype owl:Class Nd3bfc0c45878413582aec638be908f33 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009568 biolink:NamedThing trunk region of vertebral column Subdivision of vertebral column that corresponds to the trunk of the body, containing the trunk/presacral vertebrae. In organisms that have a thoracic and lumbar distinction, this corresponds to the sum of both of these regions. tmpxe7fu0cj_hp_relaxed.owl thoracolumbar vertebrae set|trunk vertebral column|thoracolumbar region|thoracolumbar region of vertebral column|trunk vertebrae series|presacral region|trunk region|thoracolumbar column|thoracolumbar vertebral column|trunk spine|trunk skeleton FMA:72066|NCIT:C92597|AAO:0000612 uberon owl:Class Region of the vertebral column between the atlas and the sacrum consisting of seven to 285 vertebrae.[AAO] Nb4ce770a9f7b4039a5e50110fa2dd04d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002990 biolink:NamedThing Fibular aplasia Absence of the fibula. tmpxe7fu0cj_hp_relaxed.owl Absent calf bone|Absent fibulae|Absent-hypoplastic fibulae MEDDRA:10054882|UMLS:C1836186 HP:0006373 human_phenotype owl:Class N95206ff5235246b9aa4a4fd547c5ccb3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:2001053 biolink:NamedThing future internal carotid artery tmpxe7fu0cj_hp_relaxed.owl primitive internal carotid artery|PICA TAO:0001053|ZFA:0001053|EFO:0003612 uberon owl:Class UBERON:0008801 biolink:NamedThing parotid gland primordium tmpxe7fu0cj_hp_relaxed.owl EHDAA:9246|EHDAA2:0001413 uberon owl:Class Na5ceb5f535ec403090108c8b858a1743 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0010559 biolink:NamedThing regulation of glycoprotein biosynthetic process Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001171 biolink:NamedThing portal lobule The triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel. tmpxe7fu0cj_hp_relaxed.owl NCIT:C33341|MA:0002498|UMLS:C0682620|FMA:14653 uberon owl:Class UBERON:0007125 biolink:NamedThing pharyngeal pouch 4 A pharyngeal pouch between pharyngeal arch 4 and arch 5 or 6 (a fifth arch never establishes in amniotes). tmpxe7fu0cj_hp_relaxed.owl fourth arch pharyngeal pouch|4th arch branchial pouch endoderm|fourth pharyngeal pouch|4th arch branchial pouch|visceral pouch 4|4th branchial pouch|4th pharyngeal pouch endoderm|fourth branchial pouch|fourth visceral pouch|pharyngeal pouches 4 VHOG:0000971|NCIT:C34181|VHOG:0000578|AAO:0011117|EHDAA2:0000091|TAO:0001134|EMAPA:16766|ZFA:0001134|EFO:0003637|XAO:0000254|FMA:295688|UMLS:C0231071|RETIRED_EHDAA2:0000090 uberon owl:Class A pouch that is situated between the 4th and 5th pharyngeal arch. [ISBN:0124020607][VHOG]|Fourth of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO] A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] Derivatives include: superior parathyroid glands and ultimobranchial body which forms the parafollicular C-Cells of the thyroid gland. Musculature and cartilage of larynx (along with the sixth pharyngeal pouch)[WP] in most mammals, excluding rodents, the dorsal part of each fourth pouch develops into a superior parathyroid gland (parathyroid IV), which lies on the dorsal surface of the thyroid gland (the parathyroid glands derived from the third pouches descend with the thymus and are carried to a more inferior position than the parathyroid glands that are derived from the fourth pouches); the elongated ventral part of each fourth pouch develops into the ultimopharyngeal body, which fuses with the thyroid gland, giving rise to the calcitonin-producing parafollicular or C-cells of the thyroid gland. In the mouse, but also in the rat and hamster, the dorsal fourth pouch does not generate a parathyroid. Thus, rodents develop only one pair of parathyroid glands. Nf6475e7aaa4845249618327351a32765 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0019243 biolink:NamedThing skin crease tmpxe7fu0cj_hp_relaxed.owl skin groove uberon owl:Class UBERON:0016928 biolink:NamedThing metaphysis of fibula A metaphysis that is part of a fibula. tmpxe7fu0cj_hp_relaxed.owl fibular metaphysis|fibula metaphysis FMA:33745 uberon owl:Class GO:0033218 biolink:NamedThing amide binding Binding to an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class CHEBI:32988 biolink:NamedThing amide An amide is a derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. tmpxe7fu0cj_hp_relaxed.owl Amide|amides KEGG:C00241 CHEBI:22473|CHEBI:2633 chebi_ontology owl:Class UBERON:0004613 biolink:NamedThing mammalian cervical vertebra 4 The fourth of the seven cervical vertebrae[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl cervical vertebra 4|C4 vertebra|fourth cervical vertebra UMLS:C0459941|FMA:12522|NCIT:C32242|MA:0001424|EMAPA:19434 elements are to be defined spatially/topologically. all mammals have 7 cervical vertebrae uberon owl:Class 4 UBERON:0004629 biolink:NamedThing thoracic vertebra 4 The fourth thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl T4 vertebra|fourth dorsal vertebra|fourth thoracic vertebra UMLS:C0459951|MA:0001441|FMA:9248|EMAPA:19545|NCIT:C33726 elements are to be defined spatially/topologically uberon owl:Class CHEBI:64588 biolink:NamedThing glycine transporter 1 inhibitor Any glycine transporter inhibitor that interferes with the action of glycine 1 transporters. tmpxe7fu0cj_hp_relaxed.owl GlyT1 inhibitors|GlyT1 inhibitor|glycine transporter 1 inhibitors Wikipedia:Glycine_transporter_1|PMID:20678516|PMID:21531289|PMID:21141920|PMID:22177408|PMID:18758757|PMID:17504107 chebi_ontology owl:Class GO:0021743 biolink:NamedThing hypoglossal nucleus development The process whose specific outcome is the progression of the hypoglossal nucleus over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0002871 biolink:NamedThing hypoglossal nucleus Nucleus forming a longitudinal cell column in the medulla, close beneath the floor of the 4th ventricle, containing motor neurons that innervate the muscles of the tongue (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 453). tmpxe7fu0cj_hp_relaxed.owl nucleus nervi hypoglossi|nucleus of hypoglossal nerve|nucleus hypoglossalis|hypoglossal nucleus|twelfth cranial nerve nucleus|hypoglossal XII nucleus|hypoglossal nerve nucleus EV:0100286|DHBA:12545|FMA:54505|UMLS:C0228802|Wikipedia:Hypoglossal_nucleus|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=757|BIRNLEX:2644|SCTID:47361005|BAMS:XII|VHOG:0001358|EMAPA:35416|HBA:9557|BAMS:12N|BM:XII|EHDAA2:0004635|ncithesaurus:Nucleus_of_the_Hypoglossal_Nerve|MA:0001039|NCIT:C12899|BAMS:12|MBA:773 http://upload.wikimedia.org/wikipedia/commons/9/94/Gray694.png uberon owl:Class UBERON:0004764 biolink:NamedThing intramembranous bone tissue Bone tissue that forms directly within mesenchyme, and does not replace other tissues[TAO]. Intramembranous ossification is the formation of bone in which osteoblasts secrete a collagen-proteoglycan matrix that binds calcium salts and becomes calcified[GO]. Intramembranous ossification is the way flat bones and the shell of a turtle are formed[GO]. Unlike endochondral ossification, cartilage is not present during intramembranous ossification[WP]. tmpxe7fu0cj_hp_relaxed.owl MA:0002837|Wikipedia:Intramembranous_ossification uberon owl:Class note the distinction between intramembranous bone and intramembranous bone tissue. Some bones may be a mixture of both tissue types. The MA class most likely refers to a tissue type (it is under bone tissue and connective tissue; there are no child classes) GO:0033363 biolink:NamedThing secretory granule organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a secretory granule. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. tmpxe7fu0cj_hp_relaxed.owl secretory granule organisation|secretory granule organization and biogenesis biological_process owl:Class UBERON:0000011 biolink:NamedThing parasympathetic nervous system The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia[GO]. tmpxe7fu0cj_hp_relaxed.owl parasympathetic part of autonomic division of nervous system|PNS - parasympathetic|pars parasympathica divisionis autonomici systematis nervosi EMAPA:17270|ZFA:0001575|UMLS:C1305770|BIRNLEX:2517|SCTID:362496006|CALOHA:TS-2094|EHDAA2:0001402|UMLS:C0030510|EFO:0000894|EHDA:10096|NCIT:C12764|MESH:D010275|MA:0000223|MAT:0000101|MIAA:0000101|VHOG:0000755|GAID:708|AAO:0010488|EHDAA:4655|TAO:0001575|Wikipedia:Parasympathetic_nervous_system|FMA:9907|BTO:0001833 http://upload.wikimedia.org/wikipedia/commons/f/f7/Gray839.png uberon owl:Class Part of the autonomic nervous system which has opposing physiological effects of the sympathetic nervous system. Examples include decreasing the heart rate or dilating the blood vessels.[AAO] In mammals, the autonomic nervous system is divided into two contrasting, antagonistic systems of control over visceral activity: the sympathetic system and the parasympathetic system (reference 1); In general, the teleosts may be considered phylogenetically the first class of vertebrates in which the heart is regulated by both sympathetic and parasympathetic neural pathways (reference 2).[well established][VHOG] HP:0009104 biolink:NamedThing Aplasia/Hypoplasia of the pubic bone Absence or underdevelopment of the pubic bone. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic/aplastic pubic bones|Absent/small pubic bones|Absent/underdeveloped pubic bones UMLS:C1849305 peter 2008-04-04T08:41:00Z HP:0008841 human_phenotype owl:Class N88c07ce746dd498eb44b9d80f155b248 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000400 biolink:NamedThing Macrotia Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). tmpxe7fu0cj_hp_relaxed.owl Large ears|Large pinnae UMLS:C1850189|UMLS:C0152421|UMLS:C0554972|UMLS:C1860838|UMLS:C1848570|SNOMEDCT_US:275480001|SNOMEDCT_US:69056000|UMLS:C1835581|UMLS:C1855062 This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used. HP:0001755|HP:0000382|HP:0000386|HP:0000401 human_phenotype owl:Class Nacc381e51598467c87ce4c0ebd69b1c6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc2be768c8a9e4ee4b7fd13f449da9c63 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001680 biolink:NamedThing Coarctation of aorta Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. tmpxe7fu0cj_hp_relaxed.owl Coarctation of the aorta|Aortic coarctation|Narrowing of aorta|Narrowing of the aorta SNOMEDCT_US:7305005|UMLS:C0003492|MSH:D001017 Coarctation refers to a narrowing of the lumen of a vessel producing an obstruction to flow. Coarctation can occur in any region of the aorta. Coarctation of the aorta is often a discrete obstruction commonly located in the descending thoracic aorta. More specifically, it is usually located in the juxtaductal position immediately distal to the left-subclavian artery in a left-sided arch. The hallmark clinical finding in coarctation of the aorta is hypertension proximal to the lesion, with diminished blood pressure distal to the obstruction. Consequently, clinical diagnosis can be made by the presence of diminished lower extremity pulses, differences in timing between upper extremity central pulses (often brachial) and lower extremity central pulses (often femoral), or the presence of a supine arm-leg blood pressure gradient. human_phenotype owl:Class N8ed732e713f9427697beff40fccc4495 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014769 biolink:NamedThing palpebral vein A blood vessel that drains from from an eyelid. tmpxe7fu0cj_hp_relaxed.owl venae palpebrales|palpebral veins FMA:51997 uberon owl:Class HP:0008750 biolink:NamedThing Laryngeal atresia Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:64981002|UMLS:C0265756 Laryngeal atresia results from failure of recanalization of the laryngotracheal tube during the third month of gestation. Laryngeal atresia manifests as acute airway obstruction in the newborn immediately following clamping of the umbilical cord and is fatal without immediate airway management with a tracheotomy. Congenital laryngeal atresia is a rare anomaly that is mostly incompatible with life. Most authors claim that this malformation is related to an arrest of the sixth brachial arch at different gestational stages during normal embryologic development. Complete laryngeal atresia results in a desperate emergency during the first few moments of life, and surgical intervention must occur within 2 to 5 minutes of birth to enable respiration. The most dramatic physical finding is that the child is aphonic, with absence of any cry or gasp at birth. human_phenotype owl:Class Na12cab3ebd70461389bcd473ae08b912 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9990ee13c84b4ef299120f072f57e8b9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N46d2622ae7d74b7588fbb7485f994071 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:46819 biolink:NamedThing urate salt tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:27226 biolink:NamedThing uric acid An oxopurine that is the final oxidation product of purine metabolism. tmpxe7fu0cj_hp_relaxed.owl uric acids 0 C5H4N4O3 168.11042 168.02834 HMDB:HMDB0000289|Wikipedia:Uric_acid chebi_ontology owl:Class N120ffa3d2d2943739eec9bb0f43781c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N33c83abfec384d31a5f587a971ee7981 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0041154 biolink:NamedThing Fractured elbow joint A partial or complete breakage of the elbow joint. tmpxe7fu0cj_hp_relaxed.owl bone elbow joint owl:Class N046777d8acbf4f97a04f6842b5a52a79 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100689 biolink:NamedThing Decreased corneal thickness A decreased anteroposterior thickness of the cornea. tmpxe7fu0cj_hp_relaxed.owl Thin cornea SNOMEDCT_US:423459005|UMLS:C1096274 doelkens 2011-02-18T04:40:41Z human_phenotype owl:Class N152ce28a7a8340b4a1b30dd70700b864 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0098802 biolink:NamedThing plasma membrane signaling receptor complex Any protein complex that is part of the plasma membrane and which functions as a signaling receptor. tmpxe7fu0cj_hp_relaxed.owl Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. cellular_component owl:Class UBERON:0008835 biolink:NamedThing hepatic diverticulum An out-pocket of thickened ventral foregut epithelium adjacent to the developing heart. Constitutes the first morphological sign of the embryonic liver. The anterior portion of the hepatic diverticulum gives rise to the liver and intrahepatic biliary tree, while the posterior portion forms the gall bladder and extrahepatic bile ducts. tmpxe7fu0cj_hp_relaxed.owl diverticulum hepaticum|liver diverticulum EHDAA:1530|AAO:0011057|UMLS:C1512407|NCIT:C34187|XAO:0000101|EHDAA2:0000740 http://upload.wikimedia.org/wikipedia/commons/4/4f/Gray1088.png uberon owl:Class in mice, the hepatic diverticulum forms by E9 and expands into an obvious liver bud by E10 The caudal part of the septum transversum is invaded by the hepatic diverticulum which divides within it to form the liver and thus gives rise to the ventral mesentery of the foregut. UBERON:0001665 biolink:NamedThing triceps surae The triceps surae is a pair of muscles located at the calf - the gastrocnemius and the soleus. These muscles both insert into the calcaneus, the bone of the heel of the human foot, and form the major part of the muscle of the back part of the lower leg, commonly known as the calf muscle. The triceps surae is connected to the foot through the Achilles tendon, and has 3 heads deriving from the 2 major masses of muscle. The superficial portion (the gastrocnemius) gives off 2 heads attaching to the base of the femur directly above the knee. The deep (profundis) mass of muscle (the soleus) forms the remaining head which attaches to the superior posterior area of the tibia. The triceps surae is innervated by the tibial nerve, specifically, nerve roots L5-S2. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl calf muscle|musculus triceps surae|sural triceps|gastrosoleus|gastrosoleus complex NCIT:C53181|UMLS:C0224458|EMAPA:36267|FMA:51062|MA:0002400 http://upload.wikimedia.org/wikipedia/commons/5/57/Illu_lower_extremity_muscles.jpg uberon owl:Class A set of muscles in FMA, a single organ in MA CHEBI:32646 biolink:NamedThing methioninium A sulfur-containing amino-acid anion that is the conjugate acid of methionine, arising from protonation of the amino group. tmpxe7fu0cj_hp_relaxed.owl methionine cation|methioninium|1-carboxy-3-(methylsulfanyl)propan-1-aminium|H2met(+) +1 C5H12NO2S InChI=1S/C5H11NO2S/c1-9-3-2-4(6)5(7)8/h4H,2-3,6H2,1H3,(H,7,8)/p+1 FFEARJCKVFRZRR-UHFFFAOYSA-O 150.22032 150.05833 CSCCC([NH3+])C(O)=O Gmelin:326567 chebi_ontology owl:Class UBERON:0010273 biolink:NamedThing zone of hyoid bone A zone of bone organ that is part of a hyoid bone. tmpxe7fu0cj_hp_relaxed.owl hyoid bone zone FMA:59494 uberon owl:Class CL:0002432 biolink:NamedThing CD24-positive, CD4 single-positive thymocyte A CD4-positive, CD8-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor. tmpxe7fu0cj_hp_relaxed.owl CD24-positive, CD4 single-positive semimature thymocyte|T.4SP24int.Th Described in the immgene database as being CD24-intermediate. tmeehan 2010-10-21T02:43:52Z cell owl:Class CL:0002433 biolink:NamedThing CD69-positive, CD4-positive single-positive thymocyte A CD4-positive, CD8-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive. tmpxe7fu0cj_hp_relaxed.owl intermediate CD4-single-positive|T.4SP69+.Th tmeehan 2010-10-21T02:46:02Z cell owl:Class N111185871068473692622f0a45d2cfff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N59ec963643d3496985a2cb0f8b9471d7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2e387af17b3d49f791360be813a6a6cf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013616 biolink:NamedThing primary molar tooth tmpxe7fu0cj_hp_relaxed.owl temporary molar tooth|primary molar tooth|deciduous molar tooth FMA:84206 TODO - logical definition uberon owl:Class UBERON:0001565 biolink:NamedThing geniohyoid muscle The geniohyoid is a muscle that attaches to the mandible and the hyoid apparatus and is innervated by the first cervical nerve (C1). tmpxe7fu0cj_hp_relaxed.owl genio-hyoideus|musculus geniohyoideus|m. geniohyoideus|geniohyoid|genio-hyoideus muscle|geniohyoideus|geniohyoideus muscle UMLS:C0224160|MA:0002308|FMA:46325|NCIT:C52930|EMAPA:36626 Geniohyoid:muscle.PNG uberon owl:Class The geniohyoid is a muscle that attaches to the mandible and the hyoid apparatus and is innervated by C1.[FEED] draws hyoid cranially GO:0060915 biolink:NamedThing mesenchymal cell differentiation involved in lung development The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell of the lung. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. tmpxe7fu0cj_hp_relaxed.owl dph 2009-09-18T11:45:33Z biological_process owl:Class UBERON:0005461 biolink:NamedThing levator scapulae muscle An axial muscle that originates in the cervical vertebraae inserts on the scapula. tmpxe7fu0cj_hp_relaxed.owl musculus levator scapulae|levator scapulae|levator scapulæ|levator scapula|levator scapulae muscle AAO:0010689|EHDAA:8309|EHDAA2:0000992|FMA:32519 Axial muscle group[Kardong] Levator:scapulae.png uberon owl:Class GO:0043217 biolink:NamedThing myelin maintenance The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Ncaac1d2879dd48b5b04f03dc7d1e7338 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012416 biolink:NamedThing respiratory system arterial smooth muscle tmpxe7fu0cj_hp_relaxed.owl MA:0001802|EMAPA:37567 uberon owl:Class HP:0010812 biolink:NamedThing Short uvula Decreased length of the uvula. tmpxe7fu0cj_hp_relaxed.owl Blunt uvula|Hypoplastic uvula|Short palatine uvula UMLS:C1401781 Objective measurement of the length of the uvula can be determined on a lateral cephalograms. However, in this series we are not relying on radiographs for assessment of findings. In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer. peter 2010-07-05T10:26:47Z owl:Class N7dbbee4f518a474786ba32ed134784c4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0016612 biolink:NamedThing auditory hillocks, pharyngeal arch 2 derived A collection of protruberances derived from pharyngeal arch 2 that develop into the concha, antihelix and antitragus. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0098916 biolink:NamedThing anterograde trans-synaptic signaling Cell-cell signaling from pre to post-synapse, across the synaptic cleft. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0000136 biolink:NamedThing Bifid uterus The presence of a bifid uterus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850327 A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts. human_phenotype owl:Class N41f25f941b924b428cbf933c9a9995fa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006206 biolink:NamedThing iridocorneal angle Acute angle occurring between the iris and the cornea at the periphery of the anterior chamber of the eye[MP]. tmpxe7fu0cj_hp_relaxed.owl anterior chamber angle FMA:58577 uberon owl:Class UBERON:0004397 biolink:NamedThing epiphysis of third metatarsal bone An epiphysis that is part of a metatarsal bone of digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl metatarsal 3 epiphysis|third metatarsal bone epiphysis FMA:86313 uberon owl:Class UBERON:0003652 biolink:NamedThing metatarsal bone of digit 3 A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 3[Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hindlimb cannon bone|third metatarsal bone|metatarsal bone digit 3|metatarsal 3|metatarsal bone of foot digit 3|metatarsal bone of digit III|toe 3 metatarsal|metatarsal III|foot digit 3 metatarsal bone|toe 3 metatarsus|hindlimb digit 3 metatarsal NCIT:C52789|FMA:24504|AAO:0000927|MA:0001371|UMLS:C1709001|EMAPA:19127 uberon owl:Class Dumb-bell-shaped bone of endochondral origin with cartilaginous epiphyses that articulates with tarsal 3 proximally and with the proximal phalanx of digit III distally.[AAO]|The third metatarsal bone articulates proximally, by means of a triangular smooth surface, with the third cuneiform; medially, by two facets, with the second metatarsal; and laterally, by a single facet, with the fourth metatarsal. This last facet is situated at the dorsal angle of the base[Wikipedia:Third_metatarsal_bone]. 3 HP:0000139 biolink:NamedThing Uterine prolapse The presence of prolapse of the uterus. tmpxe7fu0cj_hp_relaxed.owl Sagging uterus MSH:D014596|UMLS:C0042140|SNOMEDCT_US:24976005 The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position. HP:0100824 human_phenotype owl:Class Na1ad3440ce7c437381348d29ee2e745a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007775 biolink:NamedThing secondary tooth A tooth that forms after a primary tooth. tmpxe7fu0cj_hp_relaxed.owl permanent tooth|dentes permanentes FMA:55654|UMLS:C0348070|NCIT:C33313 GAT in FMA http://upload.wikimedia.org/wikipedia/commons/1/14/Teeth_by_David_Shankbone.jpg uberon owl:Class CHEBI:50331 biolink:NamedThing 3-amino-3-oxopropyl group tmpxe7fu0cj_hp_relaxed.owl glutamine side-chain|3-amino-3-oxopropyl 0 C3H6NO 72.08588 72.04494 C(CC(=O)N)* chebi_ontology owl:Class HP:0100232 biolink:NamedThing Small epiphysis of the proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Small end part of the innermost bone of the pinky toe|Small end part of the innermost bone of the little toe|Small end part of the innermost bone of the pinkie toe UMLS:C4022189 doelkens 2010-06-24T05:04:53Z human_phenotype owl:Class N6c38bd2a888f425fa6df4b4c85274247 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011234 biolink:NamedThing Absent antihelix No discernible ridge between concha and triangular fossa and helix. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023448 This finding is common in a protruding and cupped ear, where the superior and inferior parts of the antihelix are often absent. This is distinct from partial absence of the antihelix as may occur in, for example, underdeveloped inferior crus of the antihelix. peter 2011-12-15T07:09:03Z human_phenotype owl:Class N7abb2a5f3e7341b09255785899d615f9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf4d4842edee7412986c54657171970c9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009844 biolink:NamedThing urogenital sinus lumen An anatomical space that surrounded_by a primitive urogenital sinus. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0002142 uberon owl:Class UBERON:0002742 biolink:NamedThing lamina of septum pellucidum One of two layers of both white and gray matter of the septum pellucidum. During fetal development there is a space between the two laminae called the cavum septum pellucidum which, in ninety per cent of cases, disappears during infancy. tmpxe7fu0cj_hp_relaxed.owl lamina of the septum pellucidum|lamina septi pellucidi|septum pellucidum lamina|laminae septi pellucidi FMA:62472|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=258|UMLS:C0152278|BAMS:lsp|BIRNLEX:1554 uberon owl:Class FMA classifies as white matter Ne4adc689ff474e53859939025806bc66 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:18101 biolink:NamedThing 4-hydroxyphenylacetic acid A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens is substituted by a 4-hydroxyphenyl group. tmpxe7fu0cj_hp_relaxed.owl (4-hydroxyphenyl)acetic acid|4-Hydroxyphenylacetic acid|4-carboxymethylphenol|p-hydroxyphenylacetic acid|4-Hydroxyphenylacetate|4-hydroxybenzeneacetic acid|(p-hydroxyphenyl)acetic acid 0 C8H8O3 InChI=1S/C8H8O3/c9-7-3-1-6(2-4-7)5-8(10)11/h1-4,9H,5H2,(H,10,11) XQXPVVBIMDBYFF-UHFFFAOYSA-N 152.14732 152.04734 OC(=O)Cc1ccc(O)cc1 MetaCyc:4-HYDROXYPHENYLACETATE|PDBeChem:4HP|PMID:977696|PMID:24831010|Wikipedia:4-hydroxyphenylacetic_acid|Reaxys:1448766|UM-BBD_compID:c0271|HMDB:HMDB0000020|PMID:24636068|PMID:11339992|PMID:22296160|PMID:21476434|PMID:7126379|KEGG:C00642|CAS:156-38-7 CHEBI:40091|CHEBI:20419|CHEBI:1874|CHEBI:12014 chebi_ontology owl:Class HP:0010127 biolink:NamedThing Absent epiphysis of the proximal phalanx of the hallux Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux. tmpxe7fu0cj_hp_relaxed.owl Absent end part of the innermost bone of the big toe UMLS:C4024032 doelkens 2009-05-29T01:22:23Z human_phenotype owl:Class N64377ba982014cf58e8d773fa4c01408 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N258b3c98fcab47ca84f5c60e0659e2fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0041076 biolink:NamedThing Abnormal immunoglobulin level in body fluid An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous. tmpxe7fu0cj_hp_relaxed.owl owl:Class N30c38c7dab6e4190bb8c045df79874be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015128 biolink:NamedThing subepicardial layer of epicardium tmpxe7fu0cj_hp_relaxed.owl subepicardial connective tissue|perimysial connective tissue of subepicardium FMA:83105 consider merging into myocardial compact layer uberon owl:Class Nd7c986bf4681483bbefe5179d66b504c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009221 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 4th finger A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024520 doelkens 2009-01-05T05:23:59Z human_phenotype owl:Class N89b41fcf745241f7ac79869c5c0768db biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009651 biolink:NamedThing nephron tubule basement membrane A basement membrane that is part of a nephron tubule. tmpxe7fu0cj_hp_relaxed.owl renal tubule basement membrane|renal tubular basement membrane|kidney tubule basement membrane UMLS:C1709901|EMAPA:37490|MA:0001680|NCIT:C49273 uberon owl:Class UBERON:0001231 biolink:NamedThing nephron tubule An epithelial tube that is part of the nephron, the functional part of the kidney. tmpxe7fu0cj_hp_relaxed.owl kidney tubule|tubulus renalis|renal tubule|uriniferous tubule CALOHA:TS-1262|EFO:0003666|TAO:0001287|ZFA:0001287|EMAPA:27782|BTO:0000343|MESH:D007684|NCIT:C49274|FMA:15627|EV:0100387|GAID:433|MA:0000377|UMLS:C0022674 UBERON:0004210 uberon owl:Class note that in ISBN:0073040584 (Vertebrates, Kardong), the uriniferous tubule contains the nephron, so we have a separate class, rather than using a synonym, as in MA HP:0002365 biolink:NamedThing Hypoplasia of the brainstem Underdevelopment of the brainstem. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped brainstem|Hypoplastic brain stem|Hypoplastic brainstem|Brainstem hypoplasia|Small brainstem UMLS:C1842688 This finding can be demonstrated by magnetic resonance imaging. human_phenotype owl:Class N0f155e81e1df44e2b703814cadb71f18 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7a37a87bed53474e9bf61fe9bbd27033 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1901160 biolink:NamedThing primary amino compound metabolic process The chemical reactions and pathways involving primary amino compound. tmpxe7fu0cj_hp_relaxed.owl primary amino compound metabolism bf 2012-07-18T04:44:39Z biological_process owl:Class N803a87127c5e486aa5eb944912c485ab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010510 biolink:NamedThing Hypermobility of toe joints An ability of the toe joints to move beyond their normal range of motion. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023798 peter 2009-09-19T10:15:12Z human_phenotype owl:Class N63945b2af4d24dcfbf93a8d53a0b1578 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001802 biolink:NamedThing posterior segment of eyeball Any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive). tmpxe7fu0cj_hp_relaxed.owl segmentum posterius (bulbus oculi)|posterior segment of the eye|posterior segment eye|segmentum posterius bulbi oculi|posterior eye segment|posterior segment of eye|eye posterior segment Wikipedia:Posterior_segment_of_eyeball|SCTID:280659009|FMA:58868|UMLS:C0278450|EMAPA:36595|MA:0002485|NCIT:C12906|ZFA:0005567 http://upload.wikimedia.org/wikipedia/commons/1/1e/Schematic_diagram_of_the_human_eye_en.svg uberon owl:Class GO:0055107 biolink:NamedThing Golgi to secretory granule transport The directed movement of proteins from the Golgi to a secretory granule. The secretory granule is a membrane-bounded particle, usually protein, formed in the granular endoplasmic reticulum and the Golgi complex. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class PATO:0002039 biolink:NamedThing biconcave A concave quality inhering in a bearer by virtue of the bearer's curving inward on both sides or surfaces. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:0048144 biolink:NamedThing fibroblast proliferation The multiplication or reproduction of fibroblast cells, resulting in the expansion of the fibroblast population. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0002072 biolink:NamedThing hypodermis Lowermost layer of the integumentary system in vertebrates. Types of cells that are found in the hypodermis are fibroblasts, adipose cells, and macrophages. It is derived from the mesoderm, but unlike the dermis, it is not derived from the dermatome region of the mesoderm. The hypodermis is used mainly for fat storage[WP]. tmpxe7fu0cj_hp_relaxed.owl tela subcutanea|sub-tegumental tissue|subcutaneous tissue|superficial fascia|hypoderm|vertebrate hypodermis|subcutis|subtegumental tissue BTO:0001314|TAO:0001136|CALOHA:TS-2366|EMAPA:37505|NCIT:C33645|FMA:70544|ZFA:0001136|UMLS:C0278403|Wikipedia:Hypodermis http://upload.wikimedia.org/wikipedia/commons/6/6d/Skin.svg uberon owl:Class A layer separating the inner face of the dermis from the subjacent muscle cells. It is covered on both sides by a basement membrane. It contains pigment cells. Le Guellec et al, 2004.[TAO]|A layer separating the inner face of the dermis from the subjacent muscle cells. It is covered on both sides by a basement membrane. It contains pigment cells[FMA:70544]. subcutaneous|hypodermal|subcutaneus BTO has 'subcutis', as part of dermis. We follow FMA in having distinct classes for hypodermis and superficial fascia, and including these as part of the non-skin intgeument. UBERON:0003082 biolink:NamedThing myotome A transitional population of migrating mesenchymal cells that derive from somites and that will become muscle cells. tmpxe7fu0cj_hp_relaxed.owl myotomes|myomere|myomeres|muscle plate|myotomus|myotome region UMLS:C1513802|TAO:0001056|EHDAA:1739|AAO:0011067|NCIT:C34214|BTO:0000742|ZFA:0001056|EHDAA:1721|Wikipedia:Myotome|EHDAA:1733|AEO:0001018|SCTID:344535001|VHOG:0001244|EMAPA:32841|EHDAA2_RETIRED:0003431|FMA:295658|EHDAA:1727|XAO:0000315 http://upload.wikimedia.org/wikipedia/commons/9/96/Gray65.png The term 'myotome' is also used to describe the muscles served by a single nerve root / spinal segment - consider adding new class, myomere. uberon owl:Class Portion of the somites giving rise to body wall muscle masses. Kimmel et al, 1995.[TAO] In all vertebrates, the skeletal muscle of the body axis is chiefly derived from an early embryonic compartment, known as the myotome.[well established][VHOG] UBERON:0001265 biolink:NamedThing trabecula of spleen A trabecula that is part of a spleen. tmpxe7fu0cj_hp_relaxed.owl splenic trabecula|spleen trabeculum FMA:16027|EMAPA:35808|NCIT:C33607|MA:0000758|UMLS:C0229688 uberon owl:Class UBERON:0001815 biolink:NamedThing lumbosacral nerve plexus An arrangement of nerve fibers, running from the spine that travels to the pelvic appendage where it innervates skin and muscle. tmpxe7fu0cj_hp_relaxed.owl lumbosacral plexus|plexus lumbosacralis GAID:849|NCIT:C52805|EHDAA2:0001040|MA:0001181|OpenCyc:Mx4rvzYo75wpEbGdrcN5Y29ycA|BAMS:lsp|UMLS:C0024093|EHDAA:4673|VHOG:0000926|FMA:5907|EMAPA:17587|MESH:D008160 http://upload.wikimedia.org/wikipedia/commons/8/8d/Gray822.png uberon owl:Class UBERON:0012142 biolink:NamedThing pedal digitopodium region A digitopodium region that is part of a pes[Obol]. This includes the toes and metatarsal region, but excludes the tarsals region. tmpxe7fu0cj_hp_relaxed.owl uberon https://github.com/obophenotype/uberon/wiki/Subdivisions-of-the-autopod owl:Class some sources call this the acropodium. see https://github.com/obophenotype/uberon/wiki/Subdivisions-of-the-autopod GO:0010763 biolink:NamedThing positive regulation of fibroblast migration Any process that increases the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium. tmpxe7fu0cj_hp_relaxed.owl positive regulation of fibroblast cell migration biological_process owl:Class GO:0150105 biolink:NamedThing protein localization to cell-cell junction A process in which a protein is transported to, or maintained, in a location within a cell-cell junction. tmpxe7fu0cj_hp_relaxed.owl bc 2019-06-11T11:00:18Z biological_process owl:Class N8da577de6d2d4c74b17dd2263a2c6c9a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001174 biolink:NamedThing common bile duct The part of the biliary tree formed by the union of the cystic duct and the common hepatic duct. tmpxe7fu0cj_hp_relaxed.owl ductus choledochus (biliaris)|ductus choledochus TAO:0005165|VHOG:0000214|MA:0001631|UMLS:C0009437|FMA:14667|GAID:282|EHDAA:3981|ZFA:0005165|EHDAA2:0000303|NCIT:C12698|EMAPA:17201|MESH:D003135|galen:CommonBileDuct http://upload.wikimedia.org/wikipedia/commons/5/5d/Digestive_system_showing_bile_duct.png uberon owl:Class The duct formed by the union of the common hepatic and cystic ducts. [Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier, adapted_from_Dorian_AF][VHOG]|Digestive system duct that collects bile from the hepatic bile duct and the cystic duct.[TAO] GO:0051960 biolink:NamedThing regulation of nervous system development Any process that modulates the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:50733 biolink:NamedThing nutraceutical A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance. tmpxe7fu0cj_hp_relaxed.owl Food Supplementation|Dietary Supplement|Nutritional supplement chebi_ontology owl:Class UBERON:0003632 biolink:NamedThing pedal digit 2 2nd digit of the hind autopod. tmpxe7fu0cj_hp_relaxed.owl toe 2|second digit of foot|digitus secundus [ii]|hind digit II|foot digit 2|digitus secundus (II) pedis|digit 2 of hind-paw|second toe|hind digit 2|pedal digit II|hind limb digit 2|digitus secundus pedis|2nd toe|pes digit II AAO:0010645|BTO:0002350|FMA:25048|MA:0000466|EHDAA2:0002042|EMAPA:17463|UMLS:C1708081|NCIT:C52840 uberon owl:Class UBERON:0019307 biolink:NamedThing epithelium of external nose Epithelial layer that is part of the external part of the nose. tmpxe7fu0cj_hp_relaxed.owl epithelium of skin of external nose FMA:63143 uberon owl:Class HP:0031310 biolink:NamedThing Basilar artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery. tmpxe7fu0cj_hp_relaxed.owl 2017-08-26 21:35:20+00:00 peter owl:Class Ne0125139dd8e43aeb820ce74b3bec99a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N09aaa787511145e39a83286f6d565a22 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:P22304 biolink:NamedThing iduronate 2-sulfatase (human) An iduronate 2-sulfatase that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl idursulfase (human)|SIDS|IDS|alpha-L-iduronate sulfate sulfatase (human)|hIDS UniProtKB:P22304 Category=organism-gene. protein owl:Class HGNC:5389 biolink:NamedThing IDS (human) A protein coding gene IDS in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class UBERON:0003908 biolink:NamedThing right atrioventricular canal An atrioventricular canal that is in the right side of a atrioventricular region. tmpxe7fu0cj_hp_relaxed.owl right atrio-ventricular canal|right AVC FMA:71122|EHDAA2:0001719|EHDAA:5338 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern EHDAA2 represents lumen HP:0006498 biolink:NamedThing Aplasia/Hypoplasia of the patella Absence or underdevelopment of the patella. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped kneecap|Absent/hypoplastic patella|Absent/small kneecap|Small to absent patellae|Absent or hypoplastic patellae|Patellar aplasia/hypoplasia|Aplastic or hypoplastic patellae|Hypoplastic or absent patella MSH:C535568|UMLS:C1868577 peter 2008-03-28T06:25:00Z HP:0005729|HP:0006374|HP:0005702|HP:0005027|HP:0005006 human_phenotype owl:Class N1e7d3019d285487d8e78e1ccdd4ea1a0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000073 biolink:NamedThing regional part of nervous system Any part or collection of parts of the central or peripheral nervous system. Parts may span both CNS and PNS. tmpxe7fu0cj_hp_relaxed.owl part of nervous system NCIT:C13040|BIRNLEX:1157|UMLS:C1518256|SCTID:25087005 Melissa Haendel 2009-06-18T09:00:04Z uberon owl:Class GO:1990904 biolink:NamedThing ribonucleoprotein complex A macromolecular complex that contains both RNA and protein molecules. tmpxe7fu0cj_hp_relaxed.owl intracellular ribonucleoprotein complex|protein-RNA complex|RNA-protein complex|RNP|extracellular ribonucleoprotein complex Wikipedia:Ribonucleoprotein pr 2015-11-19T12:26:37Z GO:0030529|GO:1990903 cellular_component owl:Class CL:0000740 biolink:NamedThing retinal ganglion cell The set of neurons that receives neural inputs via bipolar, horizontal and amacrine cells. The axons of these cells make up the optic nerve. tmpxe7fu0cj_hp_relaxed.owl gangliocyte|RGC|ganglion cell of retina BTO:0001800|FMA:67765 cell owl:Class UBERON:0001905 biolink:NamedThing pineal body A midline, cone like structure located in the dorso-caudal roof of the 3rd ventricle, attached by peduncles to the habenular and posterior commissures. The stalk contains nerve fibers, blood vessels, connective tissue and parenchymal cells (Paxinos, The Rat Central Nervous System, 2nd ed, pg 399). tmpxe7fu0cj_hp_relaxed.owl conarium|epiphysis cerebri|glandula pinealis|Pi|frontal organ|pineal gland (Galen)|stirnorgan|epiphysis|pineal organ|corpus pineale|pineal gland|pineal HBA:4532|DHBA:10460|BAMS:PIN|EMAPA:18778|EV:0100221|FMA:62033|galen:PinealGland|MBA:953|TAO:0000019|BM:P|UMLS:C0031939|MAT:0000448|CALOHA:TS-0789|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=297|XAO:0000160|BIRNLEX:1184|BTO:0001067|EHDAA:7523|AAO:0010549|OpenCyc:Mx4rv2FMGpwpEbGdrcN5Y29ycA|GAID:453|EFO:0000865|EV:0100131|ZFA:0000019|NLXANAT:1010009|MA:0000175|EHDAA2:0001466|NCIT:C12398|VHOG:0000051|MESH:D010870|BAMS:Pi http://upload.wikimedia.org/wikipedia/commons/6/6b/Illu_pituitary_pineal_glands.jpg uberon owl:Class Anatomical structure which is a medial outgrowth of the thalamus on the dorsal surface of the brain. This structure is light sensitive and secretes melatonin when exposed to prolonged darkness.[AAO]|A circumscribed swelling, includes the pineal primordium that appears late in the segmentation period in the dorsal midline of the diencephalon. Kimmel et al, 1995.[TAO] relationship loss: part_of pineal complex (TAO:0001359)[TAO] The pineal gland has evolved from a part of the epiphyseal complex of anamniotes, which includes a median light-receptive pineal eye, parietal eye, or both.[well established][VHOG] epiphyseal|epiphysial lobulated in humans, homogeneous in mouse. Calcifies with age in humans. UBERON:0014770 biolink:NamedThing palpebral artery An artery that supplies blood to an eyelid. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class In humans, the eyelids are supplied with blood by two arches on each upper and lower lid. The arches are formed by anastamoses of the lateral palpebral arteries and medial palpebral arteries, branching off from the lacrimal artery and ophthalmic artery, respectively. In amphibians, the eyelids may be supplied by branches of the lateral pretrosal arteries.[cjm] Nb2f0f2fbd07e4bca85030991839d75a5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8ee8612578c3478eb36d3d73c395d7fa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0048368 biolink:NamedThing lateral mesoderm development The process whose specific outcome is the progression of the lateral mesoderm over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl lateral plate mesoderm development biological_process owl:Class N4b53736f2fa24623ae07014380f9b49c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1dcea58db12148d59b8fe14882384f86 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003054 biolink:NamedThing roof plate A single row of glia at the dorsal midline of the developing neural tube along the entire anterior-posterior axis. This region provides inductive signals for the specification of neuronal cell types and of the specification of neural crest cells. The cells comprising the roof plate are the precursors to radial glial cells. tmpxe7fu0cj_hp_relaxed.owl roof plate neural tube region|future brain roof plate|alar plate|roofplate|roof plate neural tube EHDAA:916|VHOG:0000303|TAO:0007058|EHDAA2:0001270|AAO:0011097|ZFA:0001436|EMAPA:35361|EMAPA:16168|EHDAA:2891|TAO:0001436|ZFA:0007058 TODO - Note that although this is classically defined as being located on the neural tube, in many AOs the roof plate continues post-embryonically after the neural tube has ceased to exist. Consider 'roof plate of neural tube'. TODO - alar plate vs roof plate UBERON:0003298 uberon owl:Class Multi-tissue structure that is the dorsal-most aspect of the devleloping neural tube.[TAO] UBERON:0001443 biolink:NamedThing chest Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]. tmpxe7fu0cj_hp_relaxed.owl ventral part of thoracic region|thoracic body wall|anterolateral part of thorax|pectus|front of thorax|thorax FMA:9576|EFO:0000965|UMLS:C0817096|galen:Thorax|GAID:91|UMLS:C1527391|MAT:0000295|galen:Chest|OpenCyc:Mx4rvVikFZwpEbGdrcN5Y29ycA|NCIT:C25389|CALOHA:TS-1039|MA:0000031|NCIT:C12799|MIAA:0000295|EMAPA:37232|BTO:0001368|EV:0100010|MESH:A01.911 http://upload.wikimedia.org/wikipedia/commons/d/db/Chest.jpg FMA:24216 present in FMA1, but gone in subsequent versions uberon owl:Class pectoral|thoracic GO:0098631 biolink:NamedThing cell adhesion mediator activity The binding by a cell-adhesion protein on a cell surface to an adhesion molecule on another cell surface, to mediate adhesion of the cell to the external substrate or to another cell. tmpxe7fu0cj_hp_relaxed.owl protein binding involved in cell adhesion|cell adhesion molecule molecular_function owl:Class N9c0b51a59bf348a6830de8aeb238ed10 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0090071 biolink:NamedThing negative regulation of ribosome biogenesis Any process that decreases the rate, frequency or extent of ribosome biogenesis. Ribosome biogenesis is the cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits. tmpxe7fu0cj_hp_relaxed.owl tb 2009-09-11T10:32:17Z biological_process owl:Class UBERON:0006866 biolink:NamedThing terminal part of digestive tract The distalmost portion of the digestive tract, derived from the hindgut, and terminating with the anus. tmpxe7fu0cj_hp_relaxed.owl rectum|terminal section of digestive tract|rectal part of digestive tract WBbt:0005773|FBbt:00005756 this class is the superclass of 'rectum', which is currently reserved for the vertebrate structure. May be merged in future. uberon owl:Class HP:0006989 biolink:NamedThing Dysplastic corpus callosum Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium. tmpxe7fu0cj_hp_relaxed.owl Dysgenesis of corpus callosum|Dysplasia of corpus callosum UMLS:C0431369 HP:0006996 human_phenotype owl:Class N2fb8504468a044bda844f0cdac09f10c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003360 biolink:NamedThing brainstem development The progression of the brainstem from its formation to the mature structure. The brainstem is the part of the brain that connects the brain with the spinal cord. tmpxe7fu0cj_hp_relaxed.owl dph 2009-12-03T10:47:20Z biological_process owl:Class HP:0100197 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the innermost bone of the 4th toe UMLS:C4022224 doelkens 2010-06-24T04:54:59Z human_phenotype owl:Class Neb99354143ee4e1bb1ddc8326a36d939 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040085 biolink:NamedThing Abnormal circulating aldosterone tmpxe7fu0cj_hp_relaxed.owl Abnormal plasma aldosterone|Abnormal circulating aldosterone UMLS:C0857898 HPO:skoehler owl:Class Nee47ece3e2eb44369376d0264637c819 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003372 biolink:NamedThing pectoral appendage bud ectoderm An unilaminar epithelium that surrounds a pectoral appendage bud. tmpxe7fu0cj_hp_relaxed.owl forelimb bud ectoderm|arm ectoderm|wing ectoderm|forelimb ectoderm|upper limb bud ectoderm|pectoral fin bud ectoderm EHDAA2:0002134|EMAPA:16407|VHOG:0001047 UBERON:0005231|UBERON:0005663 uberon owl:Class UBERON:0003111 biolink:NamedThing sphenoid region Anatomical cluster that forms the floor and sidewalls of the middle part of the cranium. tmpxe7fu0cj_hp_relaxed.owl XAO:0003174|TAO:0000290|ZFA:0000290|AAO:0010207 uberon owl:Class Anatomical cluster that forms the floor and sidewalls of the middle part of the neurocranium.[AAO] N4175fc2553a543d096bbb3a8a7fd881c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005112 biolink:NamedThing Abdominal aortic aneurysm An abnormal localized widening (dilatation) of the abdominal aorta. tmpxe7fu0cj_hp_relaxed.owl Dilatation of the abdominal aorta UMLS:C4025248 peter 2008-03-25T06:33:00Z HP:0004953 human_phenotype owl:Class Na3555ae975e142c5a5d123af0852ddee biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000348 biolink:NamedThing choroidal cell of the eye A cell of the choroid of the eye. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class CL:0000008 biolink:NamedThing migratory cranial neural crest cell Cell that is part of the migratory cranial neural crest population. Migratory cranial neural crest cells develop from premigratory cranial neural crest cells and have undergone epithelial to mesenchymal transition and delamination. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class UBERON:0001790 biolink:NamedThing outer plexiform layer of retina The layer within the retina where the bipolar cells synapse with the photoreceptor cells[ZFA]. Between the inner and outer nuclear layers, the outer plexiform layer (OPL) contains connections between the photoreceptors and bipolar and horizontal cells[GO]. tmpxe7fu0cj_hp_relaxed.owl external plexiform layer|outer plexiform layer|retinal outer plexiform layers|retina outer plexiform layer|retina, outer plexiform layer|OPL|stratum plexiforme externum retinae|stratum plexiforme externum|retinal outer plexiform layer BAMS:Ropl|BTO:0003174|ZFA:0001330|XAO:0003218|VHOG:0001171|MA:0001316|NCIT:C33237|FMA:58685|TAO:0001330|UMLS:C0229217|EMAPA:35744 uberon owl:Class The layer within the retina where the bipolar cells synapse with the photoreceptor cells.[TAO] (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The outer layer of the optic cup becomes the pigment layer of the retina, whereas the inner layer differentiates into the photoreceptive cells and neuronal layers of the retina.[well established][VHOG] UBERON:0002802 biolink:NamedThing left parietal lobe Parietal lobe of the left hemisphere of the brain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1281960|FMA:72974|BIRNLEX:1728 uberon owl:Class UBERON:0018265 biolink:NamedThing anterior root of zygomatic arch The anterior or rostral end of the zygomatic arch, which includes the temporal process of the zygomatic bone, but also including some of the body of the zygomatic bone. It may also include the zygomatico-temporal suture and the most rostral portion of the zygomatic process of the temporal bone. tmpxe7fu0cj_hp_relaxed.owl MFMO:0000109 requires definition see https://github.com/obophenotype/uberon/issues/492 uberon owl:Class HP:0004871 biolink:NamedThing Perineal fistula The presence of a fistula between the bowel and the perineum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0561921|SNOMEDCT_US:284077005 The perineum is the diamond-shaped region of the body between the pubic arch and the anus. human_phenotype owl:Class N3286f06d2b6a46c3816bf16ebf3fc59d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003339 biolink:NamedThing ganglion of central nervous system A ganglion that is part of a central nervous system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl neuraxis ganglion|ganglion of neuraxis|central nervous system ganglion EHDAA2:0000227|FMA:83843|EMAPA:16658 uberon owl:Class this has no subclasses in FMA. In EHDAA2 and EMAPA it has only the cranial ganglia CHEBI:33287 biolink:NamedThing fertilizer A fertilizer is any substance that is added to soil or water to assist the growth of plants. tmpxe7fu0cj_hp_relaxed.owl fertilizers|fertiliser chebi_ontology owl:Class CHEBI:24866 biolink:NamedThing salt A salt is an assembly of cations and anions. tmpxe7fu0cj_hp_relaxed.owl sal|Salze|sels|Salz|ionic compound|sales|sel|salts|salt|ionic compounds chebi_ontology owl:Class HP:0009587 biolink:NamedThing Triangular shaped proximal phalanx of the 2nd finger Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular proximal index finger phalanx|Triangular shaped innermost bone of index finger UMLS:C4021432 doelkens 2009-01-28T05:26:39Z HP:0004125 human_phenotype owl:Class Nfa0aba8ac8d44937a25628d3f4534b72 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001543 biolink:NamedThing popliteal lymph node The lymph nodes which drain the legs; contained in the popliteal fossa. tmpxe7fu0cj_hp_relaxed.owl popliteal lymph glands|popliteal lymph node|popliteal glands UMLS:C0588057|MA:0000738|NCIT:C53146|FMA:44227 http://upload.wikimedia.org/wikipedia/commons/6/66/Gray609.png uberon owl:Class In the popliteal fossa between biceps femoris m. and semitendinosus m.. Na245bc2520d54dda968248ab0eef3b56 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009685 biolink:NamedThing Triangular epiphysis of the distal phalanx of the thumb A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. tmpxe7fu0cj_hp_relaxed.owl Triangular end part of thumb outermost bone|Triangular epiphysis of the outermost bone of the thumb UMLS:C4024234 doelkens 2009-01-30T09:18:09Z human_phenotype owl:Class N096a9976161746ec832348110f112693 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N00e52fefa10d456eb2665598e4498b6c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0016447 biolink:NamedThing hair of trunk A strand of hair that is part of a trunk. tmpxe7fu0cj_hp_relaxed.owl trunk hair FMA:54250 uberon owl:Class N61b0e207b9534618bee6329147f58923 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012128 biolink:NamedThing nose tip Outermost point on an external nose or snout. tmpxe7fu0cj_hp_relaxed.owl snout tip|pirula|apex of nose|tip of nose|tip of snout|apex nasi|nasal tip EMAPA:37915|FMA:59518 uberon owl:Class UBERON:0010676 biolink:NamedThing manual digit 2 phalanx cartilage element A cartilage element that is part of a manual digit 2 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl hand digit 2 phalanx cartilage element|fore limb digit 2 phalanx cartilage condensation|manual digit II phalanx cartilage element EMAPA:18071 uberon owl:Class HP:0100902 biolink:NamedThing Sclerosis of the distal phalanx of the 4th finger tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the outermost bone of the ring finger UMLS:C4021940 human_phenotype owl:Class N7d26e75f9dcd420da823135c0ff5bf63 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002242 biolink:NamedThing nucleus pulposus The jelly-like substance in the middle of the spinal disc which is a remnant of the notochord. tmpxe7fu0cj_hp_relaxed.owl pulpy nucleus|nucleus pulposus of intervertebral disk|nucleus pulposus (diskus intervertebralis)|nucleus propulsus of intervertebral disk|nucleus propulsus MA:0000112|FMA:76703|FMA:13550|EMAPA:18008|BTO:0003626 Function noyes: It functions to distribute hydraulic pressure in all directions within each disc under compressive loads. http://upload.wikimedia.org/wikipedia/commons/d/d9/Cervical_vertebra_english.png uberon owl:Class The nucleus pulposus consists of chondrocytes, collagen fibrils, and proteoglycan aggrecans that have hyaluronic long chains which attract water. Attached to each hyaluronic chain are side chains of chondroitin sulfate and keratan sulfate[Wikipedia:Nucleus_pulposus] we group two FMA classes together UBERON:0003988 biolink:NamedThing thymus corticomedullary boundary The dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; site of entry of bone marrow stem cells and exit of mature, functional T cells. tmpxe7fu0cj_hp_relaxed.owl thymic cortico-medullary boundary|thymus corticomedullary zone|thymic corticomedullary junction|thymus corticomedullary junction|thymic corticomedullary zone|thymus CMZ|thymus cortico-medullary boundary|thymic corticomedullary boundary EMAPA:37974 uberon owl:Class UBERON:0002125 biolink:NamedThing thymus lobule A lobule that is part of a thymus. Divided into an outer cortex and inner medulla and separated from each other by connective tissue septa, but with the medullary tissue continuous from lobule to lobule.[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl thymic lobule|lobule of thymus|thymus lobule MA:0000770|UMLS:C1522462|NCIT:C33772|FMA:72215 uberon owl:Class in the mouse, the lobes of the thymus are not subdivided into lobules but only in the central medulla and a peripheral cortex (i.e. there is no distinct sublobulation). In humans, the two thymus lobes are composed of many lobules of various sizes which contain follicles, each comprising a medulla and a cortex. in the rat, the thymus is partially subdivided into lobules separated by thin bands of connective tissue which are continuous with the thin connective tissue capsule.[MP] Lymphocytes, reticular cells and macrophages are found in the lobules GO:0021555 biolink:NamedThing midbrain-hindbrain boundary morphogenesis The process in which the anatomical structure of the midbrain-hindbrain boundary is generated and organized. The midbrain-hindbrain domain of the embryonic brain is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages. An organizing center at the boundary patterns the midbrain and hindbrain primordia of the neural plate. tmpxe7fu0cj_hp_relaxed.owl isthmus morphogenesis|MHB morphogenesis biological_process owl:Class HP:0000238 biolink:NamedThing Hydrocephalus Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. tmpxe7fu0cj_hp_relaxed.owl Too much cerebrospinal fluid in the brain|Hydrocephaly|Nonsyndromal hydrocephalus SNOMEDCT_US:230745008|MSH:D006849|UMLS:C0020255 Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. HP:0007189|HP:0008503 owl:Class N0d27089d3a674fa5ade444ff07310f4b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0030017 biolink:NamedThing sarcomere The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Sarcomere cellular_component owl:Class UBERON:0004395 biolink:NamedThing epiphysis of first metatarsal bone An epiphysis that is part of a metatarsal bone of digit 1 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl metatarsal 1 epiphysis|first metatarsal bone epiphysis FMA:33815 uberon owl:Class CHEBI:30566 biolink:NamedThing gamma-aminobutyrate An gamma-amino acid anion resulting from the deprotonation of the carboxy group of gamma-aminobutyric acid. tmpxe7fu0cj_hp_relaxed.owl gamma-aminobutanoate|4-Amino-butyrat|4-aminobutanoate|4-aminobutyrate|4-Aminobutylate|gamma-aminobutyrate anion|4-aminobutanoic acid ion (1-) -1 C4H8NO2 InChI=1S/C4H9NO2/c5-3-1-2-4(6)7/h1-3,5H2,(H,6,7)/p-1 BTCSSZJGUNDROE-UHFFFAOYSA-M 102.11186 102.05605 NCCCC([O-])=O KEGG:C00334|PMID:12509893|Beilstein:3536873|Reaxys:3536873|Gmelin:559138 CHEBI:20317|CHEBI:11961 chebi_ontology owl:Class HP:0001498 biolink:NamedThing Carpal bone hypoplasia Underdevelopment of one or more carpal bones. tmpxe7fu0cj_hp_relaxed.owl Small wrist bones|Small carpals|Small carpal bones|Hypoplastic carpal bones|Hypoplasia of carpal bones UMLS:C1863749|UMLS:C4280594 HP:0006117|HP:0006130|HP:0006072|HP:0006029|HP:0001209|HP:0006227 human_phenotype owl:Class Na9b17e69083440fa904c66577065b017 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N02a9068c65b842198eefb05ee22d3823 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0019228 biolink:NamedThing neuronal action potential An action potential that occurs in a neuron. tmpxe7fu0cj_hp_relaxed.owl generation of action potential biological_process owl:Class GO:0021720 biolink:NamedThing superior olivary nucleus formation The process that gives rise to the superior olivary nucleus. This process pertains to the initial formation of a structure from unspecified parts. In mice, the superior olivary nucleus is a small cylindrical mass on the dorsal surface of the lateral part of the trapezoid body of the pons, and it is situated immediately above the inferior olivary nucleus. It receives projections from the cochlear nucleus and thus is involved in the perception of sound. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0061458 biolink:NamedThing reproductive system development The progression of the reproductive system over time from its formation to the mature structure. The reproductive system consists of the organs that function in reproduction. tmpxe7fu0cj_hp_relaxed.owl dph 2012-08-22T17:47:53Z biological_process owl:Class UBERON:0006048 biolink:NamedThing digit 1 A digit that is part of a digit 1 plus metapodial segment. tmpxe7fu0cj_hp_relaxed.owl dewclaw|digit I|autopod digit 1|limb digit 1 EMAPA:37285|MA:0003023 uberon owl:Class 1 N62eb9a5a6775434c94ebe0ddc665979f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0a8bdc06d3f441d68bea7d595185e1ff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011090 biolink:NamedThing skeleton of right pelvic girdle A skeleton of pelvic girdle that is part of a right pelvic girdle region. tmpxe7fu0cj_hp_relaxed.owl FMA:87593 uberon owl:Class GO:0006631 biolink:NamedThing fatty acid metabolic process The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. tmpxe7fu0cj_hp_relaxed.owl fatty acid metabolism Wikipedia:Fatty_acid_metabolism biological_process owl:Class UBERON:0002315 biolink:NamedThing gray matter of spinal cord The ridge-shaped grey matter of the spinal cord that extends longitudunally through the center of each half of the spinal cord, and are largely or entirely composed of nerve cell bodies and their dendrites and some supportive tissue. tmpxe7fu0cj_hp_relaxed.owl spinal cord grey matter|gray substance of spinal cord|spinal cord gray matter|gray matter of spinal cord|grey substance of spinal cord|spinal cord grey substance|grey matter of spinal cord|substantia grisea medullae spinalis SCTID:279441003|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2619|NLXANAT:100204|BAMS:Scgrey|MA:0000002|NCIT:C32696|FMA:256580|DHBA:146035048|UMLS:C0475853|EMAPA:35792 uberon owl:Class HP:0009415 biolink:NamedThing Irregular epiphyses of the 3rd finger Irregular radiographic opacity of the epiphyses of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of middle finger bone UMLS:C4024378 doelkens 2009-01-14T02:01:59Z human_phenotype owl:Class N5d99fb72821b4e5dbc7e6be2a865f301 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0031211 biolink:NamedThing Elevated cholesterol ester level An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol. tmpxe7fu0cj_hp_relaxed.owl Elevated cholesteryl ester level|Increased cholesterol esters|Increased cholesteryl esters 2017-07-02 11:04:47+00:00 The accumulation of cholesterol esters in the arterial intima is a characteristic feature of atherosclerosis. peter HP:0500010 owl:Class Na1aa6e24bb7a4e90ab397a2f188a0e43 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2390f59c29e54e97837b541c19dda624 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:22918 biolink:NamedThing branched-chain amino acid Any amino acid in which the parent hydrocarbon chain has one or more alkyl substituents tmpxe7fu0cj_hp_relaxed.owl branched chain amino acids chebi_ontology owl:Class HP:3000004 biolink:NamedThing Abnormality of frontalis muscle belly An abnormality of a frontalis muscle belly. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073213 vasilevs 2015-02-26T03:42:54Z human_phenotype owl:Class N6bd04d6c08544131bb9bc69d85c31fc2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3291094c10f04374a27fddbda4d34b98 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003461 biolink:NamedThing shoulder bone A bone that is connected via a shoulder joint (i.e. glenohumeral or acromioclavicular joints). The shoulder bones are the clavicle, scapula and humerus - but note that these are only considered to be shoulder bones when a true shoulder is present, as in most tetrapods. tmpxe7fu0cj_hp_relaxed.owl shoulder-articulating bone|bone of shoulder MA:0000631 uberon owl:Class this is a forelimb bone in MA, but this would lead to part-disjointness violations. UBERON:0006244 biolink:NamedThing hip joint primordium tmpxe7fu0cj_hp_relaxed.owl EMAPA:17739|EHDAA:8462|EHDAA2:0000785 uberon owl:Class UBERON:0003320 biolink:NamedThing mesenchyme of hip Mesenchyme that is part of a developing hip [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hip mesenchyme|mesenchyme of regio coxae|regio coxae mesenchyme|hip region mesenchyme|mesenchyme of hip region VHOG:0001029|EMAPA:17492|EHDAA:6182|EHDAA2:0000786|EHDAA:5157 uberon owl:Class N8dbb9e69a90a4271a69c78dcc5bb81e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:78320 biolink:NamedThing 2-hydroxypropanoic acid A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group. tmpxe7fu0cj_hp_relaxed.owl 2-Hydroxypropionic acid|Lactic acid|2-hydroxypropanoic acid|2-Hydroxypropanoic acid 0 C3H6O3 InChI=1S/C3H6O3/c1-2(4)3(5)6/h2,4H,1H3,(H,5,6) JVTAAEKCZFNVCJ-UHFFFAOYSA-N 90.07790 90.03169 CC(O)C(O)=O CAS:50-21-5|KEGG:C01432|KEGG:D00111 chebi_ontology owl:Class GO:0045658 biolink:NamedThing regulation of neutrophil differentiation Any process that modulates the frequency, rate or extent of neutrophil differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0010285 biolink:NamedThing midbrain basal plate Portion of tissue that is dorsolateral to the floor plate and part of the midbrain. tmpxe7fu0cj_hp_relaxed.owl basal plate midbrain region|basal plate midbrain EFO:0003567|EHDAA2:0004375|ZFA:0000761|TAO:0000761|DHBA:12322 uberon owl:Class UBERON:0010286 biolink:NamedThing midbrain neural tube Portion of neural tube that gives rise to the midbrain. tmpxe7fu0cj_hp_relaxed.owl ZFA:0007039|TAO:0007039 we follow ZFA in temporally dividing midbrain NT from presumptive midbrain, but in future this may be collapsed uberon owl:Class UBERON:0004273 biolink:NamedThing cartilaginous joint suture A cranial suture that is part of a cartilaginous joint [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl articulatio cartilaginea cranial suture|cranial sutures of cartilaginous joint|cranial sutures set of articulatio cartilaginea|cartilaginous joint cranial sutures set|cranial suture of cartilaginous joint|cartilaginous joint cranial suture|cranium suture of articulatio cartilaginea|cranial sutures set of cartilaginous joint|cartilaginous joint suture of cranium|articulatio cartilaginea suture of cranium|cartilaginous joint cranial sutures|suture of cranium of articulatio cartilaginea|suture of cranium of cartilaginous joint|cartilaginous joint cranium suture|cranium suture of cartilaginous joint|cranial sutures of articulatio cartilaginea|articulatio cartilaginea cranial sutures set|cranial suture of articulatio cartilaginea|articulatio cartilaginea cranium suture|articulatio cartilaginea cranial sutures EMAPA:37463|MA:0001498 uberon owl:Class N1d43e3aabb64405b8393d56345650349 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N91ff036fad344edbb87ff894f8ac5592 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb03af2d13fae4763aa0425e385828020 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N173f2e5a73ee47568acf87ba272a3737 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004008 biolink:NamedThing Sloping radial epiphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025449 human_phenotype owl:Class Ne6a81298d0b3490f8563eac0744c48f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000999 biolink:NamedThing ejaculatory duct The Ejaculatory ducts (ductus ejaculatorii) are paired structures in male anatomy, about 2 cm in length. Each ejaculatory duct is formed by the union of the vas deferens with the duct of the seminal vesicle. They pass through the prostate, and empty into the urethra at the Colliculus seminalis. During ejaculation, semen passes through the ducts and exits the body via the penis[WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl ductus ejaculatorii|ductus ejaculatorius MESH:D004543|MAT:0000170|MIAA:0000170|FMA:19325|NCIT:C32493|OpenCyc:Mx4rwOt7MJwpEbGdrcN5Y29ycA|EFO:0000985|BTO:0001580|MA:0003247|CALOHA:TS-0211|EMAPA:19088|UMLS:C0013747|GAID:388 Male:anatomy.png uberon owl:Class N4dac49797959493e9a38fc0d675dca3c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001969 biolink:NamedThing blood plasma The liquid component of blood, in which erythrocytes are suspended. tmpxe7fu0cj_hp_relaxed.owl portion of blood plasma|portion of plasma|plasma|blood plasm Wikipedia:Blood_plasma|MIAA:0000052|MAT:0000052|EMAPA:35690|CALOHA:TS-0800|FMA:62970|NCIT:C13356|MA:0002501|OpenCyc:Mx4rEg4ZYrIbEduAAAAOpmP6tw|BTO:0000131|MESH:D010949|GAID:1178|UMLS:C0032105|EFO:0001905 uberon owl:Class GO:0048699 biolink:NamedThing generation of neurons The process in which nerve cells are generated. This includes the production of neuroblasts and their differentiation into neurons. tmpxe7fu0cj_hp_relaxed.owl neuron generation biological_process owl:Class UBERON:0015082 biolink:NamedThing proximal tarsal cartilage A proximal tarsal endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0000474 biolink:NamedThing female reproductive system The organs and associated structures associated with bearing offspring in a female animal. tmpxe7fu0cj_hp_relaxed.owl female genital system|female organism genitalia|female genital tract|female genitalia|gynaecological tissue|female genitals|genitalia of female organism|female reproductive tract|female organism reproductive system|systema genitale femininum|reproductive system of female organism TGMA:0000635|MIAA:0000028|WikipediaCategory:Female_reproductive_system|OpenCyc:Mx4rvVipTZwpEbGdrcN5Y29ycA|EHDAA:8116|VHOG:0000726|XAO:0000156|EFO:0000969|MA:0000381|FBbt:00004864|FMA:45663|CALOHA:TS-1303|GAID:364|HAO:0000324|MESH:D005836|SCTID:361386004|BTO:0000083|Wikipedia:Female_genitalia|UMLS:C0700038|NCIT:C12402|EMAPA:17959|EV:0100110|EHDAA2:0000506 http://upload.wikimedia.org/wikipedia/commons/6/68/Scheme_female_reproductive_system-en.svg uberon owl:Class By far, sexual reproduction is the more common pattern among living vertebrate forms and its widespread occurrence suggests that it is the plesiomorphic, or primitive, reproductive mode among the vertebrates.[well established][VHOG] UBERON:0001294 biolink:NamedThing inner medulla of kidney Innermost region of the mammalian kidney. tmpxe7fu0cj_hp_relaxed.owl inner zone of medulla of kidney|set of inner region of renal pyramids|inner zone of renal medulla|kidney inner medulla|zona interna (medullaris renalis)|zona interna medullae renalis|renal inner medulla|inner renal medulla CALOHA:TS-0506|MA:0001652|EMAPA:28349|FMA:17734|BTO:0001745 uberon owl:Class unique to mammals GO:0060974 biolink:NamedThing cell migration involved in heart formation The orderly movement of a cell from one site to another that contribute to the formation of the heart. The initial heart structure is made up of mesoderm-derived heart progenitor cells and neural crest-derived cells. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-06T10:56:33Z biological_process owl:Class GO:0031032 biolink:NamedThing actomyosin structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments. tmpxe7fu0cj_hp_relaxed.owl actomyosin organization|actomyosin structure organisation|actomyosin structure organization and biogenesis Note that this term is a child of 'actin cytoskeleton organization and biogenesis ; GO:0030036' because the actin cytoskeleton is defined as actin filaments and associated proteins. biological_process owl:Class HP:0001427 biolink:NamedThing Mitochondrial inheritance A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). tmpxe7fu0cj_hp_relaxed.owl Mitochondrial MSH:D050259|UMLS:C0887941 HP:0001431|HP:0001506|HP:0001458 human_phenotype owl:Class Na207ee400a0040b696873a0d3166f98e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006815 biolink:NamedThing areolar connective tissue Loose connective tissue located at the outer and inner layers of organs. Examples: submucosal connective tissue, tunica adventitia of artery, papillary dermis, superficial fascia of dorsum of hand. tmpxe7fu0cj_hp_relaxed.owl areolar tissue|loose areolar connective tissue|loose connective tissue SCTID:68477002|FMA:63897|AAO:0000027 uberon owl:Class Also known as loose connective tissue. A pliable, mesh-like tissue with a fluid matrix that functions to cushion and protect body organs.[AAO] relationship loss: subclass connective tissue proper (AAO:0000099)[AAO] cushions body organs Nbbdb1128321e495b94ea8f97e5249a12 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012131 biolink:NamedThing Abnormal number of erythroid precursors A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023033 peter 2012-09-16T07:17:18Z human_phenotype owl:Class N4e90187fb36f441ca48e69cb8214919c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0046549 biolink:NamedThing retinal cone cell development Development of a cone cell, one of the sensory cells in the eye that reacts to the presence of light. Cone cells contain the photopigment iodopsin or cyanopsin and are responsible for photopic (daylight) vision. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0035005 biolink:NamedThing preputial swelling of male tmpxe7fu0cj_hp_relaxed.owl prepuce of male EMAPA:29220 uberon owl:Class UBERON:0006261 biolink:NamedThing male genital tubercle A differentiated genital tubercle that is part of a male reproductive system. tmpxe7fu0cj_hp_relaxed.owl genital tubercle of male|penis anlage RETIRED_EHDAA2:0001048|EHDAA:8138|VHOG:0000667|EMAPA:17969 uberon owl:Class UBERON:0005328 biolink:NamedThing mesonephric comma-shaped body The mesonephric comma-shaped body is the precursor structure to the mesonephric S-shaped body that contributes to the morphogenesis of a nephron in the mesonephros[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class Nc861ecb3e0724a46be04422766f5f32a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:5103624 biolink:NamedThing manual digit 4 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 4 plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl manual digit IV digitopodial skeleton|manual digit 4|manual digit 4 skeleton this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class N95fc7aafaa824c0b9e5d28780d537fa6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N38795d1a3da84269b7ef1bc25dc0f3eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0101025 biolink:NamedThing nuclear membrane biogenesis The process in which a nuclear membrane is synthesized, aggregates, and bonds together. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001961 biolink:NamedThing mucosa-associated lymphoid tissue Diffuse system of small concentrations of lymphoid tissue found in various sites of the body such as the gastrointestinal tract, thyroid, breast, lung, salivary glands, eye, and skin[WP]. Mucosal-associated lymphoid tissue is typically found as nodules associated with mucosal epithelia with distinct internal structures including B- and T-zones for the activation of lymphocytes[GO]. tmpxe7fu0cj_hp_relaxed.owl mucosa associated lymphoid tissue|mucosa associated lymphatic tissue|mucosal-associated lymphatic tissue|epithelio-lymphoid tissue|MALT|mucosal-associated lymphoid tissue|mucosa-associated lymphoid tissue MA:0000140|FMA:62819|NCIT:C12910|UMLS:C0599921 todo - add part relationships to specific layers uberon owl:Class N52bc9cc3896146829437d8ccb9f50ce2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006248 biolink:NamedThing incus pre-cartilage condensation An incus endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl EMAPA:17825|VHOG:0000957|EHDAA2:0000813|EHDAA:9024 in EHDAA2 this develops from both mandibular and maxillary mesenchyme. We have still to extend homology relationships from quadrate/incus to their ontogenic precursors ( uberon owl:Class GO:0051649 biolink:NamedThing establishment of localization in cell Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. tmpxe7fu0cj_hp_relaxed.owl establishment of localization within cell|establishment of localisation in cell|positioning within cell|establishment of cellular localization|establishment of intracellular localization biological_process owl:Class HP:0000883 biolink:NamedThing Thin ribs Ribs with a reduced diameter. tmpxe7fu0cj_hp_relaxed.owl Slender ribs|Thin ribs SNOMEDCT_US:249697003|UMLS:C0426818 human_phenotype owl:Class Ne24dbf2268c844debb40fc475c064a86 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:000001479 biolink:NamedThing low affinity immunoglobulin gamma Fc region receptor II An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr2 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl lymphocyte antigen 17|Fcgr2|FcRII|Fc gamma receptor IIB|ly-17|IgG Fc receptor II beta|Fcgr2b|Fc-gamma RII|Fc-gamma-RIIB|CD32 Category=gene. Requested by=CL. protein owl:Class UBERON:0001765 biolink:NamedThing mammary duct Epithelial tube that transports milk[GO]. tmpxe7fu0cj_hp_relaxed.owl ductus lactiferi|lactiferous tubule|lactiferous duct|lactiferous gland duct|galactophorous tubule|mammary gland duct|galactophorous duct|mammilary duct CALOHA:TS-2385|FMA:58006|EMAPA:35538|UMLS:C0222613|NCIT:C32910|BTO:0002845|MA:0000791 This structure regresses in most males http://upload.wikimedia.org/wikipedia/commons/6/64/Illu_breast_anatomy.jpg uberon owl:Class UBERON:0001581 biolink:NamedThing depressor labii inferioris A muscle of facial expression, innervated by the facial nerve, attached to the skin of the lower lip, orbicularis oris muscle, and mandible, and superficial and lateral to the mentalis muscle. See Diogo et al., 2009; Burrows et al., 2011). tmpxe7fu0cj_hp_relaxed.owl MFMO:0000123|MA:0002287|FMA:46816|EMAPA:37516|UMLS:C0224119|NCIT:C53152 http://upload.wikimedia.org/wikipedia/commons/9/96/Depressor_labii_inferioris.png uberon owl:Class UBERON:5101466 biolink:NamedThing pedal digit digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl pedal digit|pedal digit skeleton this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class HP:0100219 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the middle bone of the little toe|Increased bone density of end part of the middle bone of the pinky toe|Increased bone density of end part of the middle bone of the pinkie toe UMLS:C4022202 doelkens 2010-06-24T05:04:00Z human_phenotype owl:Class Nf035b631b3644248967b3cfbfe18b5e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003203 biolink:NamedThing endocardial cushion morphogenesis The process in which the anatomical structure of the endocardial cushion is generated and organized. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-08T01:43:22Z biological_process owl:Class UBERON:5103634 biolink:NamedThing pedal digit 4 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 4 plus the associated metapodial element. tmpxe7fu0cj_hp_relaxed.owl pedal digit 4 skeleton|pedal digit 4|pedal digit IV digitopodial skeleton this class represents a series of phalanges plus a metapodial element. In comparative anatomy terminology we would call this a 'digit', but the label 'digit' is sometimes used to exclude metapodials and to include soft tissue. This series of elements is hypothesized to be homologous to radials. uberon owl:Class HP:0007521 biolink:NamedThing Irregular hyperpigmentation of back tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024854 human_phenotype owl:Class N794763e2df5f4c9381f179b81ddda8de biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035784 biolink:NamedThing seminal clot A portion of semen in a coagulated state. tmpxe7fu0cj_hp_relaxed.owl seminal coagulum uberon owl:Class GO:0050817 biolink:NamedThing coagulation The process in which a fluid solution, or part of it, changes into a solid or semisolid mass. tmpxe7fu0cj_hp_relaxed.owl clotting biological_process owl:Class HP:0002209 biolink:NamedThing Sparse scalp hair Decreased number of hairs per unit area of skin of the scalp. tmpxe7fu0cj_hp_relaxed.owl Decreased number of scalp follicles|Hypotrichosis on scalp|Scalp hair, thinning|Sparse scalp hair|Reduction in the number of scalp follicles|Sparse, thin scalp hair|Scalp hypotrichosis|Reduced/lack of hair on scalp|Thin scalp hair|sparse-absent scalp hair UMLS:C1857042|UMLS:C1873509 Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist. HP:0004772|HP:0004774|HP:0004782|HP:0004775|HP:0004534|HP:0004542|HP:0002233|HP:0002556|HP:0004526|HP:0004541 owl:Class N45986774d0de4acabb036c0bf329c9e4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N64fde3a7910249a6977a54fd4316322b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001441 biolink:NamedThing Abnormality of the musculature of the thigh tmpxe7fu0cj_hp_relaxed.owl Abnormal thigh muscles UMLS:C4025783 peter 2008-04-07T10:27:00Z human_phenotype owl:Class Naa60cab8f9a0490583ed5479defd7885 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0025550 biolink:NamedThing Elevated circulating ribitol concentration An increase above the normal concentration of ribitol in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased level of ribitol in serum 2017-07-09 13:01:59+00:00 HPO:probinson owl:Class N77bc6ea10ff341c6822f66ed67ae9258 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011273 biolink:NamedThing nail of manual digit 1 A nail that is part of a manual digit 1. tmpxe7fu0cj_hp_relaxed.owl nail of thumb|thumb nail|claw of digit 1 of fore-paw|nail plate of thumb|nail of manual digit I EMAPA:18734|FMA:54329 uberon owl:Class N161c89b738c4452d8d5001e901e4fb0f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002529 biolink:NamedThing Neuronal loss in central nervous system tmpxe7fu0cj_hp_relaxed.owl Neuronal loss in CNS|Loss of brain cells|Neuronal loss UMLS:C1850496 This finding can be demonstrated by neuropathology. HP:0002400 owl:Class N031384d70cba48498d0ec69a653f7900 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:53000 biolink:NamedThing epitope The biological role played by a material entity when bound by a receptor of the adaptive immune system. Specific site on an antigen to which an antibody binds. tmpxe7fu0cj_hp_relaxed.owl epitope role|antigenic determinant|epitope function chebi_ontology owl:Class N815af515282a4ad9a64d70d3c28ca2b8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009973 biolink:NamedThing ureterovesical junction The valve-like structure found at the site of entry of the ureter into the urinary bladder, normally displays an oblique angulation through the detrusor to avoid reflux of urine up the ureters and the kidney. tmpxe7fu0cj_hp_relaxed.owl vesico-ureteric junction|vesico-ureteral junction|vesicoureteric junction NCIT:C106202|MA:0003020|FMA:15899|EMAPA:37783 uberon owl:Class N9face5235c014fc3a2d5309b327361c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006525 biolink:NamedThing left lung alveolar system tmpxe7fu0cj_hp_relaxed.owl MA:0001775|EMAPA:19001 uberon owl:Class N1a265233d75b450991d14000b55ea3b5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100466 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 5th toe Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the innermost bone of the little toe|Uneven increase in bone density in the innermost bone of the pinky toe|Uneven increase in bone density in the innermost bone of the pinkie toe UMLS:C4022061 human_phenotype owl:Class N6cf0cb773f5746b4830f67eb19048d26 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014884 biolink:NamedThing distal epiphysis of distal phalanx of manual digit 4 A distal epiphysis that is part of a distal phalanx of manual digit 4. tmpxe7fu0cj_hp_relaxed.owl ungual tuberosity of distal phalanx of ring finger|distal end of distal phalanx of fourth finger|head of distal phalanx of ring finger|distal end of distal phalanx of ring finger|distal epiphysis of distal phalanx of manual digit IV|head of distal phalanx of fourth finger|distal epiphysis of distal phalanx of ring finger|head of distal phalanx of fourth digit of hand FMA:37645 uberon owl:Class UBERON:0010412 biolink:NamedThing epididymal fat pad Encapsulated adipose tissue associated with the epididymis. tmpxe7fu0cj_hp_relaxed.owl periepididymal fat pad EMAPA:35316|MA:0002550 uberon owl:Class PATO:0001801 biolink:NamedThing decreased water composition A composition quality inhering in an bearer by virtue of the reduction in amount of water the bearer contains. tmpxe7fu0cj_hp_relaxed.owl dehydrated|dry quality owl:Class UBERON:0004772 biolink:NamedThing eyelid tarsus The tarsi (tarsal plates) are two comparatively thick, elongated plates of dense connective tissue, about 2.5 cm. in length; one is found in each eyelid, and contributes to its form and support. They directly abut the lid margins. tmpxe7fu0cj_hp_relaxed.owl eyelid tarsi|tarsi|tarsal plate|tarsal plate of eyelid|tarsus palpebralis FMA:59086|MA:0000270|UMLS:C0459586|NCIT:C33736 uberon owl:Class In most taxa (birds, mammals, lizards), the tarsal plate is described as a dense, fibrous connective tissue, possibly including cartilage, present within one or both of the upper and lower eyelids (Gau- thier et al., 1988; Rieppel, 2000). In humans, the tarsal plate of the upper eyelid is composed of collagens types I, III, and V, as well as glycosaminogly- cans (chondroitin sulphate 4 and 6), aggrecan, and cartilage oligomeric matrix proteins but lacks collagen type II as well as chondrocytes (Milz et al., 2005). Thus, for humans, the upper tarsal plate represents neither a truly fibrous nor a truly cartilagi- nous element but instead one that is composed of a unique transitional tissue (Milz et al., 2005). In many birds, lizards, and Sphenodon (the tuatara), the upper eyelid has lim- ited mobility and a putative tarsal plate is instead found within the lower eyelid (Underwood, 1970; Gau- thier et al., 1988). HP:0006253 biolink:NamedThing Swelling of proximal interphalangeal joints tmpxe7fu0cj_hp_relaxed.owl Swelling of innermost hinge joints UMLS:C1860841 human_phenotype owl:Class N819ba11c1d87457db576b9bb2282e7ba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005659 biolink:NamedThing primary palate epithelium An epithelium that is part of a primary palate. tmpxe7fu0cj_hp_relaxed.owl VHOG:0001025|FMA:313406|EHDAA2:0001500|EMAPA:17643 uberon owl:Class UBERON:0005620 biolink:NamedThing primary palate The part of the palate formed from the intermaxillary segment. tmpxe7fu0cj_hp_relaxed.owl primary palate|primitive palate|processus palatinus medianus|palatum primarium|primary palate process EHDAA2:0001496|EHDAA2:0001499|UMLS:C1268540|VHOG:0000362|FMA:295874|NCIT:C34264|MA:0001583|EMAPA:17642 uberon owl:Class The shelf separating the oral and nasal cavities that is formed during early embryonic development from protrusions of tissue between the olfactory pits. [TFD][VHOG] Early tetrapod possessed a primary palate that included the vomer, pterygoid, parasphenoid, palatine and ectopterygoid bones. Therapsid evolved a partial secondary palate formed by the medial extension of the premaxilla and maxilla. Mammals have a secondary palate that, in addition to extensions of the premaxilla and maxilla, includes part of the palatine bone[VHOG] N0f9f82f407c7400c8b92093e7939a01e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002132 biolink:NamedThing dentate nucleus The largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers. tmpxe7fu0cj_hp_relaxed.owl dentate nucleus (Vicq d'Azyr)|nucleus lateralis cerebelli|lateral cerebellar nucleus|dentate nucleus|lateral nucleus of cerebellum|dentate cerebellar nucleus|nucleus dentatus cerebelli|dentatothalamocortical fibers|nucleus dentatus UMLS:C0086120|BM:CB-CBL|FMA:72260|HBA:12946|BAMS:DN|BIRNLEX:1171|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=683|MBA:846|BTO:0003836|MA:0001008|BAMS:Dt|VHOG:0001700|EV:0100300 http://upload.wikimedia.org/wikipedia/commons/2/23/Gray707.png UBERON:0008996 uberon owl:Class One or more deep cerebellar nuclei appear in agnathans, sharks, ropefishes, lungfishes, Latimeria, and amphibians. Reptiles have two nuclei (a medial and a lateral), and birds and mammals have three nuclei (a medial, a lateral, and an interposed nucleus). The medial nucleus of mammals is known as the fastigial nucleus, and the lateral nucleus is known as the dentate nucleus.[well established][VHOG] UBERON:0005492 biolink:NamedThing hyaloid vessel A blood vessel that is associated with the lens. In mammals, this is transient and normally nourishes the retina, immature lens and primary vitreous of the developing eye. tmpxe7fu0cj_hp_relaxed.owl hyaloid capillary system|hyaloid blood vessels|hyaloid vascular system|hyaloid vasculature|hyaloid vessels VHOG:0000232|TAO:0005046|EHDAA:4735|XAO:0004154|ZFA:0005046 we are currently conflating vessel and vasculature - we may wish to split this class - see also vascular plexus term. The ZFA class represents the vasculature uberon owl:Class UBERON:0001258 biolink:NamedThing neck of urinary bladder The constricted portion of the urinary bladder, formed by the meeting of its inferolateral surfaces proximal to the opening of the urethra[MP]. tmpxe7fu0cj_hp_relaxed.owl cervix vesicae urinariae|bladder neck|neck of bladder|collum vesicae|vesical neck|urinary bladder neck|cervix vesicae EMAPA:36078|UMLS:C0227716|galen:UrinaryBladderNeck|MA:0002491|NCIT:C12336|FMA:15912 http://upload.wikimedia.org/wikipedia/commons/6/63/Gray1156.png uberon owl:Class GO:0007154 biolink:NamedThing cell communication Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Cell_signaling biological_process owl:Class HP:0011802 biolink:NamedThing Hamartoma of tongue A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. tmpxe7fu0cj_hp_relaxed.owl Lingual hamartoma UMLS:C0431565|SNOMEDCT_US:253753005 peter 2012-04-24T08:02:16Z human_phenotype owl:Class N2cb671161e6f45cf9f541b26250ed66d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000161 biolink:NamedThing Median cleft lip A type of cleft lip presenting as a midline (median) gap in the upper lip. tmpxe7fu0cj_hp_relaxed.owl Midline cleft lip|Central cleft upper lip UMLS:C1850256 human_phenotype owl:Class N2e2aff9a1b5a42fa859ca7fe8539ad80 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002069 biolink:NamedThing stratum granulosum of epidermis The layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis. tmpxe7fu0cj_hp_relaxed.owl granular layer of epidermis|epidermis granular layer|stratum granulosum|epidermis stratum granulosum NCIT:C33627|MA:0000805|UMLS:C0221923|FMA:70344|EMAPA:32786|BTO:0000361 uberon owl:Class Na623da08984d4ad1abd9420912a65774 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncf53f4bce3d34095b19df29a9572776a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005319 biolink:NamedThing mesonephric collecting duct The collecting duct is the final common path through which urine flows before entering the ureter and then emptying into the bladder[GO]. tmpxe7fu0cj_hp_relaxed.owl AAO:0010390|XAO:0000151 uberon owl:Class N5af82107205048599f0e795e29120eed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001401 biolink:NamedThing oligopotent A cellular potency that is the capacity to form multiple differentiated cell types of a specific lineage and lack self renewing capacity. tmpxe7fu0cj_hp_relaxed.owl Less potent than multipotent, often thought of as precursor or progenitor cell status. quality owl:Class PR:000050032 biolink:NamedThing immunoglobulin complex (human) An immunoglobulin complex whose components are encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl hIg Category=organism-complex. protein owl:Class GO:0044092 biolink:NamedThing negative regulation of molecular function Any process that stops or reduces the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. tmpxe7fu0cj_hp_relaxed.owl jl 2009-04-21T04:07:27Z biological_process owl:Class UBERON:0010133 biolink:NamedThing neuroendocrine gland Any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli. tmpxe7fu0cj_hp_relaxed.owl neuroendocrine system gland MA:0000720 uberon owl:Class Nf29f555904674d168bd17514ad155117 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009525 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 2nd finger An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of innermost long bone of index finger|Bracket epiphyses of proximal index finger phalanx UMLS:C4021457 doelkens 2009-01-16T01:12:34Z HP:0004120 human_phenotype owl:Class Ne251f4da9bcd4479bd8acf9dca867d62 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013247 biolink:NamedThing male paramesonephric duct An epithelial tube that develops from a Mullerian duct in a male. Later degenerates. tmpxe7fu0cj_hp_relaxed.owl degenerating mesonephric portion of male paramesonephric duct EMAPA:29161|EMAPA:35661|EHDAA2:0001052 consider separating the duct from the degenerating portion, as in EMAPA uberon owl:Class UBERON:0003890 biolink:NamedThing Mullerian duct Paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the mullerian eminence in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, and the upper portion of the vagina; in the male, they are lost. These ducts are made of tissue of mesodermal origin[WP]. develops either by lengthwise splitting of the archinephric duct (in chondrichthyans and some amphibians) or by a elongated invagination of the coelomic epithelium (other vertebrates) In males, the oviducts regress. The cranial end of the oviduct maintains an opening into the coelom (which primitively may have been the anteriormost coelomic funnels connecting the nephrocoel with the coelom). This opening is the ostium tubae[USM]. tmpxe7fu0cj_hp_relaxed.owl Müllerian duct|ductus paramesonephricus|Muellerian duct|paramesonephric duct|early paramesonephric duct XAO:0000330|RETIRED_EHDAA2:0001399|MESH:A16.254.570|UMLS:C0026732|AAO:0010141|GAID:1309|VHOG:0001199|EHDAA2:0004048|EMAPA:27665|NCIT:C13260 http://upload.wikimedia.org/wikipedia/commons/6/6d/Gray1109.png UBERON:0005318 uberon owl:Class Either of the paired embryonic ducts developing into the uterine tubes, uterus, and vagina in the female and becoming largely obliterated in the male. [TFD][VHOG]|Transient developmental organ which gives rise to oviducts in female (documented to persist in some male frogs).[AAO] In females, the archinephric (mesonephric) ducts tend to function only within the urinary systems. The muellerian duct arises embryologically next to the archinephric (wolffian) duct. In males, the muellerian duct regresses if it appears at all, but in females, the muellerian ducts become the oviducts of the reproductive system.[well established][VHOG] Sertoli cells secrete anti-Mullerian hormone (AMH) inducing the demise of this duct N21dc03952e80477684c40acef4f258dd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0007020 biolink:NamedThing microtubule nucleation The process in which tubulin alpha-beta heterodimers begin aggregation to form an oligomeric tubulin structure (a microtubule seed). Microtubule nucleation is the initiating step in the formation of a microtubule in the absence of any existing microtubules ('de novo' microtubule formation). tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Microtubule_nucleation biological_process owl:Class HP:0005989 biolink:NamedThing Redundant neck skin Excess skin around the neck, often lying in horizontal folds. tmpxe7fu0cj_hp_relaxed.owl Excessive nuchal skin|Excess neck skin|Excess skin over the neck|Redundant skin over the neck|Redundant nuchal skin|Redundant skin folds of neck|Redundant neck skin UMLS:C1840319 With age and increased vertical growth of the neck, excess nuchal skin may disappear and the neck may become broad or webbed. If the skin folds are vertical or paravertical, the term Neck webbing should be used. HP:0005993|HP:0005996 owl:Class N02da0f43587446c1890a989bdb094c60 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005420 biolink:NamedThing pelvic appendage bud A limb bud that develops into a hindlimb or pelvic fin. tmpxe7fu0cj_hp_relaxed.owl pelvic fin bud|pelvic fin buds|hindlimb/pelvic fin bud ZFA:0001384|EFO:0003469|VHOG:0001260|TAO:0001384 at this time we have no need to name a more specific 'pelvic fin bud' class, but we may in future uberon owl:Class Fin bud that develops into the pelvic fin.[TAO] Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] UBERON:0016536 biolink:NamedThing white matter of limbic lobe A white matter of cerebral lobe that is part of a limbic lobe. tmpxe7fu0cj_hp_relaxed.owl FMA:261091 uberon owl:Class UBERON:0014393 biolink:NamedThing sweat of axilla Sweat that is produced by the glands of the axilla. tmpxe7fu0cj_hp_relaxed.owl axillary sweat FMA:63085 uberon owl:Class N822cab50f4fb42d8affafeb9b1d9ed1c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002270 biolink:NamedThing hyaloid artery An artery that is part of the optic stalk of the eye and extends from the optic disc through the vitreous humor to the lens. tmpxe7fu0cj_hp_relaxed.owl central artery of retina|hyaloid arteries|arteria hyaloidea|Cloquets canal|Cloquet's canal FMA:77670|EHDAA2:0004072|XAO:0004155|ZFA:0005045|TAO:0005045|VHOG:0001478|EMAPA:19242 http://upload.wikimedia.org/wikipedia/commons/1/1e/Schematic_diagram_of_the_human_eye_en.svg uberon owl:Class Artery that is internal to the eye. Isogai et al. 2001.[TAO] In humans, Usually fully regressed before birth, its purpose is to supply nutrient to the developing lens in the growing fetus. During the tenth week of development the lens grows independent of a blood supply and the hyaloid artery usually regresses. Its proximal portion remains as the central artery of the retina. Regression of the hyaloid artery leaves a clear central zone through the vitreous called the hyaloid canal or Cloquet's canal. Occasionally the artery may not fully regress, resulting in the condition persistent hyaloid artery. More commonly, small remnants of the artery may remain. Free remnants can sometimes be seen as 'floaters'. An anterior remnant of the hyaloid artery can be seen in some people as Mittendorf's dot, a small pinpoint-like scar on the posterior surface of the lens. A posterior remnant may be seen where the artery left the optic disc, and is known as Bergmeister's papilla UBERON:0003098 biolink:NamedThing optic stalk The narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain. tmpxe7fu0cj_hp_relaxed.owl pedunculus opticus|optic stalks NCIT:C34235|ZFA:0000137|EHDAA2:0001318|UMLS:C0231107|TAO:0000137|EHDAA:3816|EMAPA:16678|XAO:0000475|AAO:0011077|VHOG:0000223 http://upload.wikimedia.org/wikipedia/commons/2/2f/Gray864.png uberon owl:Class The evagination from the neural tube of the developing embryo which develops the optic cup at its extremity; the stalk persists as the optic nerve. [TFD][VHOG] (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup.[well established][VHOG] UBERON:0002804 biolink:NamedThing left limbic lobe A limbic lobe that is part of a left cerebral hemisphere. tmpxe7fu0cj_hp_relaxed.owl FMA:72981|BIRNLEX:1780 uberon owl:Class UBERON:0002231 biolink:NamedThing body of rib tmpxe7fu0cj_hp_relaxed.owl shaft of rib|rib shaft|corpus costae|rib body NCIT:C52728|MA:0001416|FMA:7577|EMAPA:36014|UMLS:C0448161 uberon owl:Class HP:0000824 biolink:NamedThing Decreased response to growth hormone stimulation test Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. tmpxe7fu0cj_hp_relaxed.owl Somatotropin deficiency|Growth hormone deficiency UMLS:C3714796|SNOMEDCT_US:2109003 GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults. HP:0008195|HP:0008206|HP:0000861 owl:Class Nfbd07ac40efc4c06a9639059f92260d2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1607c8ca5eb5492bbb3b2a1d8aed0777 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N17388446d2cd4baf9a56959202355206 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:62943 biolink:NamedThing prostanoid anion An icosanoid anion that is the conjugate base of a prostanoid. tmpxe7fu0cj_hp_relaxed.owl prostanoid anions chebi_ontology owl:Class CHEBI:33569 biolink:NamedThing noradrenaline A catecholamine in which C-1 of the aminoethyl side-chain is hydroxy-substituted. tmpxe7fu0cj_hp_relaxed.owl 4-(2-amino-1-hydroxyethyl)benzene-1,2-diol|norepinephrine|noradrenalina 0 C8H11NO3 InChI=1S/C8H11NO3/c9-4-8(12)5-1-2-6(10)7(11)3-5/h1-3,8,10-12H,4,9H2 SFLSHLFXELFNJZ-UHFFFAOYSA-N 169.17788 169.07389 NCC(O)c1ccc(O)c(O)c1 Gmelin:863925|Beilstein:2210994|LINCS:LSM-5181|CAS:138-65-8 chebi_ontology owl:Class N593627fd470249d99d62e46a4a3ebda0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410071 biolink:NamedThing Increased level of ribitol in CSF An increase in the level of ribitol in the cerebral spinal fluid. tmpxe7fu0cj_hp_relaxed.owl Increased level of ribitol in cerebrospinal fluid 2018-01-29 22:59:19+00:00 ORCID:0000-0001-5208-3432 owl:Class Ne91f7f41b6bf48b48863edcc5b2c7700 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005731 biolink:NamedThing Cortical irregularity An abnormal irregularity of cortical bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025145 human_phenotype owl:Class Nc9e32ad792c7437cbfce2c117c58fe72 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004354 biolink:NamedThing male inguinal canal An inguinal canal that is part of a male organism. Conveys the spermatic cord and its coverings + the ilioinguinal nerve.[WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl inguinal canal of male EMAPA:26913|MA:0003256 uberon owl:Class in MP, this is implicitly part of male reproductive system, but not male genitalia UBERON:2001073 biolink:NamedThing axial vasculature tmpxe7fu0cj_hp_relaxed.owl ZFA:0001073 teleost_anatomy_curators uberon owl:Class This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon HP:0030685 biolink:NamedThing Decreased adiponectin level A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073127 owl:Class N28dae5fd57e34d1faa9ebe3623d29574 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040209 biolink:NamedThing Decreased CSF biopterin level Decreased concentration of biopterin in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl Low CSF BH4 (tetrahydrobiopterin) UMLS:C4073157 PhenoTips:CHum owl:Class N1ac102288f2344fda4a2f2bcc86724ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1b5546525d8f4e9bb6862827b12c9b73 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011133 biolink:NamedThing intermetatarsal joint A joint that connects two adjacent metatarsals. tmpxe7fu0cj_hp_relaxed.owl FMA:35219 http://upload.wikimedia.org/wikipedia/commons/d/dc/Gray358.png uberon owl:Class In humans: The base of the first metatarsal is not connected with that of the second by any ligaments; in this respect the great toe resembles the thumb UBERON:0008346 biolink:NamedThing duodenal epithelium An epithelium that is part of a duodenum. tmpxe7fu0cj_hp_relaxed.owl epithelium of duodenum CALOHA:TS-2087|FMA:17231|MA:0003208|EMAPA:19078 uberon owl:Class N33095d3091c340f49cf0f5ff5599b654 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000058 biolink:NamedThing Abnormal labia morphology An anomaly of the labia, the externally visible portions of the vulva. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the labia UMLS:C4025892 owl:Class N970478f7882a407eadf94811c05e036c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4226b83dadac47c9a134b3bfd1bdfb83 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004473 biolink:NamedThing musculature of face Any collection of muscles that is part of a face. tmpxe7fu0cj_hp_relaxed.owl muscle group of face|set of muscles of face|set of facial muscles|musculi faciei|entire facial musculature|facial muscles FMA:71288 originally created to reflect the distinction drawn in FMA between a facial muscle and the entire musculature of the face. However, naming both does not serve any particular purpose uberon owl:Class UBERON:0008597 biolink:NamedThing depressor anguli oris muscle The Depressor anguli oris (Triangularis) arises from the oblique line of the mandible, whence its fibers converge, to be inserted, by a narrow fasciculus, into the angle of the mouth. tmpxe7fu0cj_hp_relaxed.owl triangularis muscle|triangularis|depressor anguli oris|musculus depressor anguli oris FMA:46828|EMAPA:37842 http://upload.wikimedia.org/wikipedia/commons/3/36/Gray381.png uberon owl:Class UBERON:0000017 biolink:NamedThing exocrine pancreas The part of the pancreas that is part of the exocrine system and which produces and store zymogens of digestive enzymes, such as chymotrypsinogen and trypsinogen in the acinar cells [GO]. tmpxe7fu0cj_hp_relaxed.owl exocrine component of pancreas|exocrine part of pancreas|pars exocrina pancreatis|exocrine pancreas NCIT:C32546|XAO:0000137|BTO:0000434|UMLS:C0553695|VHOG:0000048|ZFA:0001249|EV:0100093|MA:0002415|AAO:0010407|CALOHA:TS-1241|TAO:0001249|FMA:16017|EMAPA:35328 uberon owl:Class The exocrine pancreas is composed of acinar epithelial cells and ductal epithelium that manufacture the proteolytic enzymes and bicarbonate required for digestion.[TAO]|The part of the pancreas that acts as an exocrine gland, consisting of the pancreatic acini, which produce pancreatic juice and secrete it into the intestine to aid in protein digestion. [TFD][VHOG] In the hagfish and lampreys (our most primitive vertebrate species of today), the first sign of 'a new organ' is found as collections of endocrine cells around the area of the bile duct connection with the duodenum. These endocrine organs are composed of 99% beta cells and 1% somatostatin-producing delta cells. Compared to the more primitive protochordates (e.g. amphioxus), this represents a stage where all previously scattered insulin-producing cells of the intestinal tissue have now quantitatively migrated to found a new organ involved in sensing blood glucose rather than gut glucose. Only later in evolution, the beta cells are joined by exocrine tissue and alpha cells (exemplified by the rat-, rabbit- and elephant-fishes). Finally, from sharks and onwards in evolution, we have the islet PP-cell entering to complete the pancreas.[well established][VHOG] UBERON:0008778 biolink:NamedThing epaxial musculature Musculature that is derived from the epaxial myotome region, ventral to the horizontal septum of the vertebrae. Epaxial muscles include other (dorsal) muscles associated with the vertebrae, ribs, and base of the skull. tmpxe7fu0cj_hp_relaxed.owl epaxial muscle|epaxial muscles AAO:0000142|XAO:0003229|EMAPA:37851 uberon owl:Class the muscles derived from the medial myotome; includes the intrinsic back muscles|Trunk muscles that lies dorsal to the horizontal septum.[AAO] The hypaxial muscles are located on the lower side of the body, often below the horizontal septum in many species (primarily fish and amphibians). In amniotes, the positional distinctions have been lost as the body's muscles have changed through evolution, but in all species, the hypaxial muscles are innervated by the ventral ramus of the spinal nerves, while the epaxial muscles are innervated by the dorsal ramus.|In humans, the erector spinae, the transversospinal muscles (including the multifidus, semispinalis and rotatores), the splenius and suboccipital muscles are the only epaxial muscles UBERON:0010081 biolink:NamedThing future common hepatic duct An extrahepatic bile duct that has the potential to develop into a common hepatic duct. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000595 uberon owl:Class CL:0017505 biolink:NamedThing increased nucleus size A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2009-12-23T10:53:24Z cell owl:Class UBERON:0002354 biolink:NamedThing cardiac Purkinje fiber The cardiac Purkinje fiber is part of the cardiac conduction system that receives signals from the bundle of His and innervates the ventricular cardiac muscle. tmpxe7fu0cj_hp_relaxed.owl cardiac Purkinje fiber|heart Purkinje fiber|myofibra conducens cardiacus|Purkinje fiber|subendocardial branch UMLS:C0034144|MA:0000096|Wikipedia:Purkinje_fiber|EMAPA:35718|MESH:D011690|GAID:560|FMA:9492|BTO:0001735|NCIT:C33430 http://upload.wikimedia.org/wikipedia/commons/9/96/Gray498.png UBERON:0004147 uberon owl:Class GO:0001838 biolink:NamedThing embryonic epithelial tube formation The morphogenesis of an embryonic epithelium into a tube-shaped structure. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0051546 biolink:NamedThing keratinocyte migration The directed movement of a keratinocyte, epidermal cells which synthesize keratin, from one site to another. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0004012 biolink:NamedThing Premature fusion of the radial epiphyseal plates A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025446 The epiphyseal plate (or epiphysial plate, physis, or growth plate) is a hyaline cartilage plate in the metaphysis at each end of a long bone. The plate is found in children and adolescents; in adults, who have stopped growing, the plate is replaced by an epiphyseal line. The growth plate has a very specific morphology in having a zonal arrangement. The growth plate includes a relatively inactive reserve zone at the epiphyseal end, moving distally into a proliferative and then hyper trophic zone and ending with a band of ossifying cartilage (the metaphysis). human_phenotype owl:Class N5f8f071c095247048bc3bc1fb62eedc8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:35804 biolink:NamedThing citrate(1-) A tricarboxylic acid monoanion that is the conjugate base of citric acid, obtained by deprotonation of one of the three carboxy groups. tmpxe7fu0cj_hp_relaxed.owl dihydrogen citrate|H2cit|H2cit(-) -1 C6H7O7 191.11558 191.01918 chebi_ontology owl:Class CHEBI:30769 biolink:NamedThing citric acid A tricarboxylic acid that is propane-1,2,3-tricarboxylic acid bearing a hydroxy substituent at position 2. It is an important metabolite in the pathway of all aerobic organisms. tmpxe7fu0cj_hp_relaxed.owl 2-hydroxypropane-1,2,3-tricarboxylic acid|Citric acid|CITRIC ACID|H3cit|E330|2-Hydroxytricarballylic acid|2-Hydroxy-1,2,3-propanetricarboxylic acid|Citronensaeure|3-Carboxy-3-hydroxypentane-1,5-dioic acid 0 C6H8O7 InChI=1S/C6H8O7/c7-3(8)1-6(13,5(11)12)2-4(9)10/h13H,1-2H2,(H,7,8)(H,9,10)(H,11,12) KRKNYBCHXYNGOX-UHFFFAOYSA-N 192.123 192.02700 OC(=O)CC(O)(CC(O)=O)C(O)=O PMID:22264346|Wikipedia:Citric_Acid|BPDB:1359|CAS:77-92-9|PDBeChem:CIT|HMDB:HMDB0000094|PMID:15934243|KEGG:C00158|Drug_Central:666|PMID:11762832|PMID:22509852|Beilstein:782061|PMID:22115968|PMID:22373571|PMID:11857437|PMID:22192423|KNApSAcK:C00007619|Gmelin:4240|PMID:17357118|MetaCyc:CIT|PMID:17190852|KEGG:D00037|Reaxys:782061|PMID:19288211|PMID:18298573|PMID:16232627|PMID:18960216|DrugBank:DB04272|PMID:17604395|PMID:14537820|PMID:11782123|PMID:15311880 CHEBI:23322|CHEBI:41523|CHEBI:3727 chebi_ontology owl:Class UBERON:0011364 biolink:NamedThing cleidocephalicus muscle The cleidomastoideus is a thick, strap-like muscle that together with the cleidocervicalis forms the proximal part of the brachiocephalicus. It lies beneath the cleidocervicalis. Its origin is the clavicular tendon with its insertion being at the mastoid process of the temporal bone. It is distinctly narrow and is united with the cleidocervicalis and cleidobrachialis by the clavicular tendon. Together with the other two components of the brachiocephalicus muscle, its primary function is to advance the free limb, however, it can also act as an shoulder extensor. Acting bilaterally, it fixes and depresses the neck, while by its unilateral action, it allows the head and neck to be drawn to the side. Its blood supply is the inferior cervical, carotid and vertebral arteries and its nerve supply is the spinal accessory, cervical and axillary nerves. tmpxe7fu0cj_hp_relaxed.owl cleidocephalic muscle|cleidocephalic|cleidomastoideus|cleidocephalicus|cleidomastoid|pars mastoideus|cleidomastoid muscle UMLS:C1707412|NCIT:C52893|EMAPA:37687|MA:0002275 alt def: "Combination of cleidomastoid and cleidocervical muscles" uberon owl:Class UBERON:0011220 biolink:NamedThing mastoid process of temporal bone The mastoid process is a conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. It is located just behind the external acoustic meatus, and lateral to the styloid process. Its size and form vary somewhat; it is larger in the male than in the female. This process serves for the attachment of the posterior belly of the digastric, sternocleidomastoid, splenius capitis, and longissimus capitis muscles. The word is derived from the Greek 'masto-', alluding to its resemblance to the breast. tmpxe7fu0cj_hp_relaxed.owl mastoid process|mastoid|mastoid process of skull|processus mastoideus ossis temporalis UMLS:C0446908|NCIT:C12503|FMA:52872 uberon owl:Class N66962983b2c1401497c140cfdcb67ae0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:17568 biolink:NamedThing uracil A common and naturally occurring pyrimidine nucleobase in which the pyrimidine ring is substituted with two oxo groups at positions 2 and 4. Found in RNA, it base pairs with adenine and replaces thymine during DNA transcription. tmpxe7fu0cj_hp_relaxed.owl Uracil|Ura|2,4-Pyrimidinedione|2,4(1H,3H)-pyrimidinedione|U|2,4-Dioxopyrimidine|Urazil|uracil|URACIL|pyrimidine-2,4(1H,3H)-dione 0 C4H4N2O2 InChI=1S/C4H4N2O2/c7-3-1-2-5-4(8)6-3/h1-2H,(H2,5,6,7,8) ISAKRJDGNUQOIC-UHFFFAOYSA-N 112.08684 112.02728 O=c1cc[nH]c(=O)[nH]1 PMID:22074393|HMDB:HMDB0000300|PMID:12855717|KNApSAcK:C00001513|PMID:22356544|MetaCyc:URACIL|Gmelin:2896|PMID:19175333|PMID:15274295|CAS:66-22-8|Reaxys:606623|PMID:3654008|PMID:16834123|PMID:11279060|PMID:22171528|PMID:22299724|PMID:22020693|PMID:22685418|PMID:22483865|KEGG:C00106|PMID:18533995|PMID:22447672|Wikipedia:Uracil|PMID:22567906|PMID:17439666|DrugBank:DB03419|Beilstein:606623|PMID:18815805|KEGG:D00027|PMID:22237209|PMID:22120518|PDBeChem:URA CHEBI:15288|CHEBI:27210|CHEBI:46375|CHEBI:9882 chebi_ontology owl:Class CL:0000649 biolink:NamedThing prickle cell A cell with delicate radiating processes known as desmosomes that form intercellular bridges between other cells of this type. This cell type forms the stratum spinosum (prickle cell layer). A function of this cell is to generate keratin. tmpxe7fu0cj_hp_relaxed.owl prickle cell of epidermis FMA:69059 CL:0002186 cell owl:Class HP:0011742 biolink:NamedThing Ectopic adrenal gland Abnormal anatomical location of the adrenal gland. tmpxe7fu0cj_hp_relaxed.owl Abnormal adrenal gland position SNOMEDCT_US:49494003|UMLS:C0266275 peter 2012-04-21T09:45:15Z human_phenotype owl:Class N01f9cab725a94038b337069c6d59827a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N61d52f10a7534cab8c420dffe9cfb42f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8721a8b5ad5246dd9432f145b5e2648c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N87872cda32354b1f92af7224d0281fd3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:3000037 biolink:NamedThing Abnormal neck blood vessel morphology An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck. tmpxe7fu0cj_hp_relaxed.owl Abnormality of blood vessel of neck|Abnormality of neck blood vessel|Abnormality of the cervical blood vessels|Abnormality of the vasculature of the neck|Abnormality of the cervical vasculature UMLS:C4073245 vasilevs 2015-08-07T00:36:06Z owl:Class N6ef347a972354511a3f95b92929f5cfe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100415 biolink:NamedThing Complete duplication of the proximal phalanx of the 5th toe Complete duplication of the proximal phalanx of fifth toe. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the innermost bone of the pinkie toe|Complete duplication of the proximal phalanx of the fifth toe|Complete duplication of the innermost bone of the little toe|Complete duplication of the innermost bone of the pinky toe UMLS:C4020984 human_phenotype owl:Class Nf801a1b86e4646e3afafbc5de33abe60 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0045927 biolink:NamedThing positive regulation of growth Any process that activates or increases the rate or extent of growth, the increase in size or mass of all or part of an organism. tmpxe7fu0cj_hp_relaxed.owl upregulation of growth|activation of growth|up regulation of growth|up-regulation of growth|stimulation of growth biological_process owl:Class GO:0040007 biolink:NamedThing growth The increase in size or mass of an entire organism, a part of an organism or a cell. tmpxe7fu0cj_hp_relaxed.owl non-developmental growth|growth pattern See also the biological process term 'cell growth ; GO:0016049'. GO:0048590 biological_process owl:Class GO:0035987 biolink:NamedThing endodermal cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo. tmpxe7fu0cj_hp_relaxed.owl endoderm cell differentiation bf 2011-08-25T04:50:36Z biological_process owl:Class UBERON:0007306 biolink:NamedThing pronephric glomerular capillary A glomerular capillary that is part of a pronephros. tmpxe7fu0cj_hp_relaxed.owl ZFA:0005309|TAO:0005309 uberon owl:Class HP:0009421 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped outermost middle finger bone|Absent/small outermost middle finger bone UMLS:C4024374 doelkens 2009-01-14T03:16:46Z human_phenotype owl:Class N6697f843a43540098fbbcfea9887e1e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0025040 biolink:NamedThing Thalamic edema Swelling within the thalamus due to the accumulation of fluid. tmpxe7fu0cj_hp_relaxed.owl Edema of the thalamus|Thalamic oedema|Oedema of the thalamus 2016-09-25 14:11:37+00:00 HPO:probinson owl:Class Nc679251962e145778273597acd5391d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011775 biolink:NamedThing vagus nerve nucleus A cranial nerve nucleus that is associated with a vagus nerve. tmpxe7fu0cj_hp_relaxed.owl vagus nucleus|tenth cranial nerve nucleus|vagal X nucleus|nucleus of vagal nerve|nucleus of vagus nerve|nucleus of Xth nerve|nodosal nucleus|vagal nucleus|nucleus of vagal X nerve FMA:54573|SCTID:362467005 uberon owl:Class HP:0100225 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the innermost bone of the pinky toe|Bracket shaped end part of the innermost bone of the pinkie toe|Bracket shaped end part of the innermost bone of the little toe UMLS:C4022196 doelkens 2010-06-24T05:04:53Z human_phenotype owl:Class Nd2520f5bb0e54aeea0105839e399ba53 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001539 biolink:NamedThing Omphalocele A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. tmpxe7fu0cj_hp_relaxed.owl Omphalocoele Fyler:4404|UMLS:C0795690|SNOMEDCT_US:18735004|MSH:D006554|MEDDRA:10030309 human_phenotype owl:Class N37f55ae234d94a078de501f103e94d86 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004325 biolink:NamedThing middle phalanx of pedal digit 3 A middle phalanx that is part of a foot digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl third middle phalanx of foot|intermediate phalanx of 3rd toe|foot digit 3 intermediate phalanx|middle phalanx of pedal digit III|intermediate phalanx of foot digit 3|middle phalanx of the 3rd toe|hindlimb short pastern bone|middle phalanx of 3rd toe|foot digit 3 middle phalanx|middle phalanx of third toe|hindlimb digit III P2|middle phalanx of third digit of foot|3rd toe intermediate phalanx|middle phalanx of foot digit 3|3rd toe middle phalanx FMA:32624 uberon owl:Class GO:0051216 biolink:NamedThing cartilage development The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpxe7fu0cj_hp_relaxed.owl cartilage element development|cartilage biosynthesis|cartilage biogenesis|cartilage formation|cartilage organ development|chondrogenesis Wikipedia:Chondrogenesis biological_process owl:Class UBERON:0005031 biolink:NamedThing mucosa of upper lip A mucosa that is part of a upper lip [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl upper lip mucosa of organ|upper lip mucous membrane|mucous membrane of upper lip|upper labial mucosa|organ mucosa of upper lip|upper lip organ mucosa|mucosa of organ of upper lip|upper lip mucosa FMA:59832|NCIT:C12224|UMLS:C0226933 uberon owl:Class UBERON:0004058 biolink:NamedThing biliary ductule One of the fine terminal elements of the bile duct system, leaving the portal canal, and pursuing a course at the periphery of a lobule of the liver[BTO]. the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct[MP]. tmpxe7fu0cj_hp_relaxed.owl ductuli biliferi|bile capillary|biliary ductule|cholangiole|terminal cholangiole|bile ductule ZFA:0005164|TAO:0005164|BTO:0002840|EMAPA:37440 uberon owl:Class In ZFA, Digestive system duct that collects bile from the canaliculus and transports bile through the liver -- (check if the same) // The smallest and the most peripheral branches of the biliary tree consist of a portal part (portal ductule) and an intralobular part (intralobular ductule) UBERON:0001175 biolink:NamedThing common hepatic duct Predominantly extrahepatic bile duct which is formed by the junction of the right and left hepatic ducts, which are predominantly intrahepatic, and, in turn, joins the cystic duct to form the common bile duct[GAID]. The common hepatic duct is the duct formed by the convergence of the right hepatic duct (which drains bile from the right functional lobe of the liver) and the left hepatic duct (which drains bile from the left functional lobe of the liver). The common hepatic duct then joins the cystic duct coming from the gallbladder to form the common bile duct[WP]. tmpxe7fu0cj_hp_relaxed.owl ductus hepaticus communis|hepatic duct UMLS:C0019149|FMA:14668|VHOG:0000220|NCIT:C32356|GAID:286|MESH:D006500|EMAPA:19101|MA:0002660 http://upload.wikimedia.org/wikipedia/commons/4/48/Illu_liver_gallbladder.jpg TODO - MA distinguishes between bile duct, hepatic duct, common bile duct and common hepatic duct. in FMA hepatic duct and common hepatic duct are the same. Common is part of extra-hepatic part uberon owl:Class The duct which conveys the bile from the liver and unites with the cystic duct to form the common bile duct. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] UBERON:5003623 biolink:NamedThing manual digit 3 plus metapodial segment A subdivision of the autopod consisting of manual digit 3 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl manual digit 3 ray|manual digit 3|manual digit 3 ( phalanges plus metapodial) plus soft tissue|manual digit III plus metapodial segment|manual digit 3 digitopodial subdivision this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class CL:0000029 biolink:NamedThing neural crest derived neuron tmpxe7fu0cj_hp_relaxed.owl neuron neural crest derived cell owl:Class CL:0002676 biolink:NamedThing neural crest derived neuroblast A neuroblast derived from a neural crest cell. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-08-22T09:24:15Z cell owl:Class GO:0001700 biolink:NamedThing embryonic development via the syncytial blastoderm The process whose specific outcome is the progression of the embryo over time, from zygote formation through syncytial blastoderm to the hatching of the first instar larva. An example of this process is found in Drosophila melanogaster. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class NCBITaxon:50557 biolink:NamedThing Insecta tmpxe7fu0cj_hp_relaxed.owl insects|true insects GC_ID:1 ncbi_taxonomy owl:Class HP:0001742 biolink:NamedThing Nasal congestion Reduced ability to pass air through the nasal cavity often leading to mouth breathing. tmpxe7fu0cj_hp_relaxed.owl Obstruction of nose|Stuffy nose|Nasal blockage|Congestion of nose|Blockage of nose|Nasal obstruction UMLS:C0027429|SNOMEDCT_US:68235000|UMLS:C0027424|SNOMEDCT_US:267100006|SNOMEDCT_US:232209000|MSH:D015508 owl:Class N6ddbf7f1df984b7f96d1394c9c0d2a5b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N20caef50d7ad4934ba1e8d03380765cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000573 biolink:NamedThing retinal cone cell One of the two photoreceptor cell types in the vertebrate retina. In cones the photopigment is in invaginations of the cell membrane of the outer segment. Cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision. tmpxe7fu0cj_hp_relaxed.owl BTO:0001036|CALOHA:TS-0866|FMA:67748 cell owl:Class N25c46cdac2414cd6855dce50fae49260 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035004 biolink:NamedThing preputial swelling tmpxe7fu0cj_hp_relaxed.owl EMAPA:35702 uberon owl:Class UBERON:7500049 biolink:NamedThing proximal-most point of greater trochanter of femur The proximal-most point of the greater trochanter of a femur. tmpxe7fu0cj_hp_relaxed.owl https://orcid.org/0000-0003-2699-3066 uberon owl:Class UBERON:0002503 biolink:NamedThing greater trochanter The greater trochanter (great trochanter) of the femur is a large, irregular, quadrilateral eminence and a part of the skeletal system. It is directed a little lateralward and backward, and, in the adult, is about 1 cm lower than the head. Because the pelvic outlet in the female is larger than in the male, there is a greater distance between the greater trochanters in the female. It has two surfaces and four borders. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl greater trochanter of femur|great trochanter|trochanter major galen:GreaterTrochanter|NCIT:C32698|EMAPA:37594|FMA:32852|MA:0002822|UMLS:C0223865 http://upload.wikimedia.org/wikipedia/commons/9/97/Gray243.png uberon owl:Class UBERON:0013472 biolink:NamedThing upper esophagus The upper one third of esophagus in which the muscle layer is composed of muscle cells of the striated type. tmpxe7fu0cj_hp_relaxed.owl proximal part of esophagus|upper third of esophagus NCIT:C12253|UMLS:C0227187 uberon owl:Class GO:0007601 biolink:NamedThing visual perception The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. tmpxe7fu0cj_hp_relaxed.owl vision|sensory visual perception|sense of sight Wikipedia:Visual_perception biological_process owl:Class UBERON:0014890 biolink:NamedThing right hemisphere of cerebellum A cerebellar hemisphere that is in_the_right_side_of a cerebellum. tmpxe7fu0cj_hp_relaxed.owl FMA:83876 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern N524cb0257db24af09c19e7df577ffab7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009522 biolink:NamedThing lateral lingual swelling epithelium An epithelium that is part of a lateral lingual swelling. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000913|FMA:313717|EMAPA:17190 uberon owl:Class UBERON:0001688 biolink:NamedThing incus bone The incus or anvil is the anvil-shaped small bone or ossicle in the middle ear. It connects the malleus to the stapes. It was first described by Alessandro Achillin of Bologna. The incus transmits sound vibrations from the malleus to the stapes. The incus only exists in mammals, and is derived from a reptilian upper jaw bone, the quadrate bone. Embryologically it is derived from the first pharyngeal arch along with the rest of the bones of mastication, such as the maxilla and mandible. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl incus bone|quadrate - incus|incus MESH:D007188|GAID:866|VHOG:0000689|MA:0001215|FMA:52752|NCIT:C32770|UMLS:C0021181|EMAPA:18583 http://upload.wikimedia.org/wikipedia/commons/d/df/Gray917.png uberon owl:Class According to this theory (Reichert-Gaupp theory), the mammalian stapes is derived from the reptilian columella, the incus from the quadrate and the malleus from the articular (...).[well established][VHOG] N0fd0b65edb764265bae33391c982e328 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0045061 biolink:NamedThing Decreased carnitine level in liver tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073182 owl:Class Na06660d99c004553b38db231fb0e1949 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004770 biolink:NamedThing articular system Anatomical system that consists of all the joints of the body. tmpxe7fu0cj_hp_relaxed.owl joint system|set of all joints|set of all joints of body|set of joints of body EMAPA:35150|VSAO:0000181|MA:0003007|FMA:23878|SCTID:361827000 uberon owl:Class Nae2ca088b5fe448e95f84d32494b363b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf7d31edbc2cc4a43ab50699c4019ec9a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N586d4f9171ee49dc85a5c689f8f8b76f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:52425 biolink:NamedThing EC 3.2.1.18 (exo-alpha-sialidase) inhibitor An antiviral drug targeted at influenza viruses. Its mode of action consists of blocking the function of the viral neuraminidase protein (EC 3.2.1.18), thus preventing the virus from budding from the host cell. tmpxe7fu0cj_hp_relaxed.owl exo-alpha-sialidase inhibitor|acetylneuraminyl hydrolase inhibitor|alpha-neuraminidase inhibitors|acetylneuraminidase inhibitor|EC 3.2.1.18 inhibitors|acetylneuraminyl hydrolase inhibitors|alpha-neuraminidase inhibitor|sialidase inhibitor|neuraminidase inhibitor|EC 3.2.1.18 (exo-alpha-sialidase) inhibitors|neuraminidase inhibitors|exo-alpha-sialidase inhibitors|N-acylneuraminate glycohydrolase inhibitors|sialidase inhibitors|exo-alpha-sialidase (EC 3.2.1.18) inhibitor|N-acylneuraminate glycohydrolase inhibitor|exo-alpha-sialidase (EC 3.2.1.18) inhibitors|EC 3.2.1.18 inhibitor|acetylneuraminidase inhibitors chebi_ontology owl:Class UBERON:0009984 biolink:NamedThing medial condyle of femur The medial condyle is one of the two projections on the lower extremity of femur. The medial condyle is larger than the lateral (outer) condyle due to more weight bearing caused by the center of gravity being medial to the knee. On the posterior surface of the condyle the linea aspera (a ridge running down the posterior shaft of the femur) turns into the medial supracondylar ridge. The outermost protrusion on the medial surface of the medial condyle is referred to as the 'medial epicondyle' and can be palpated by running fingers medially from the patella with the knee in flexion. tmpxe7fu0cj_hp_relaxed.owl condylus medialis femoris|medial condyle of the femur|medial femoral condyle|c. medialis femoris FMA:32858 http://upload.wikimedia.org/wikipedia/commons/5/53/Gray246.png uberon owl:Class UBERON:0003576 biolink:NamedThing hip connective tissue A portion of connective tissue that is part of a hip [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl connective tissue of hip|connective tissue of hip region|connective tissue of regio coxae EMAPA:37323|MA:0000656 uberon owl:Class UBERON:0001464 biolink:NamedThing hip The hip region is located lateral to the gluteal region (i.e. the buttock), inferior to the iliac crest, and overlying the greater trochanter of the thigh bone. In adults, three of the bones of the pelvis have fused into the hip bone which forms part of the hip region. The hip joint, scientifically referred to as the acetabulofemoral joint (art. coxae), is the joint between the femur and acetabulum of the pelvis and its primary function is to support the weight of the body in both static (e.g. standing) and dynamic (e.g. walking or running) postures. [WP,modified]. tmpxe7fu0cj_hp_relaxed.owl coxa|hip region|regio coxae CALOHA:TS-2226|MA:0000045|BTO:0001457|MESH:D006615|NCIT:C64193|UMLS:C0019552|EMAPA:17490|galen:Hip|FMA:24964|EHDAA:6178|EHDAA2:0000783|EFO:0001929|GAID:47|VHOG:0000346|EHDAA:5153|OpenCyc:Mx4rvVjhy5wpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/9/9f/Hip.jpg uberon owl:Class The pelvic girdle is never joined by contributions of dermal bone. From its first appearance in placoderms, the pelvic girdle is exclusively endoskeletal. It arose from pterygiophores, perhaps several times, in support of the fin.[well established][VHOG] coxal See notes for shoulder. in BTO this is part of the abdomen - this creates an inconsistency if limb and abdomen are spatially disjoint UBERON:0004022 biolink:NamedThing germinal neuroepithelium The single layer of epithelial cells that lines the early neural tube and develops into the nervous system and into the neural crest cells. tmpxe7fu0cj_hp_relaxed.owl germinal neuroepithelial layer|original neural tube|germinal neuroepithelium uberon owl:Class As the cells adjacent to the lumen continue to divide, the migrating cells form a second layer around the original neural tube. This layer becomes progressively thicker as more cells are added to it from the germinal neuroepithelium. This new layer is called the mantle (or intermediate) zone, and the germinal epithelium is now called the ventricular zone (and, later, the ependyma)[NCBIBook:NBK10047] GO:0051151 biolink:NamedThing negative regulation of smooth muscle cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of smooth muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of smooth muscle cell differentiation|inhibition of smooth muscle cell differentiation|downregulation of smooth muscle cell differentiation|down regulation of smooth muscle cell differentiation biological_process owl:Class GO:0051145 biolink:NamedThing smooth muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell; smooth muscle lacks transverse striations in its constituent fibers and are almost always involuntary. tmpxe7fu0cj_hp_relaxed.owl nonstriated muscle cell differentiation biological_process owl:Class Nb5ad19d5e6c246e8a472ecc6ef026f39 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N05110b4edae1427cb24da4aed17c95e1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001613 biolink:NamedThing occipital artery The occipital artery arises opposite the facial artery, its path is below the posterior belly of digastric to the occipital region. This artery supplies blood to the back of the scalp and sterno-mastoid muscles. Other muscles it supplies are deep muscles in the back and neck. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl arteria occipitalis FMA:49586|UMLS:C0226117|EMAPA:37672|OpenCyc:Mx4rwC1IFJwpEbGdrcN5Y29ycA|MA:0002009|NCIT:C33194 http://upload.wikimedia.org/wikipedia/commons/7/7b/Gray508.png uberon owl:Class UBERON:0004942 biolink:NamedThing submucosa of left hepatic duct A submucosa that is part of a left hepatic duct [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl left hepatic ductal submucosa|left hepatic duct submucosa FMA:18017 uberon owl:Class CHEBI:28115 biolink:NamedThing methylcobalamin tmpxe7fu0cj_hp_relaxed.owl MeCbl|methylcob(III)alamin|Methylcobalamin|Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-methylcobamide|mecobalamin|methylcobalamin|CO-METHYLCOBALAMIN 0 C63H91CoN13O14P InChI=1S/C62H90N13O14P.CH3.Co/c1-29-20-39-40(21-30(29)2)75(28-70-39)57-52(84)53(41(27-76)87-57)89-90(85,86)88-31(3)26-69-49(83)18-19-59(8)37(22-46(66)80)56-62(11)61(10,25-48(68)82)36(14-17-45(65)79)51(74-62)33(5)55-60(9,24-47(67)81)34(12-15-43(63)77)38(71-55)23-42-58(6,7)35(13-16-44(64)78)50(72-42)32(4)54(59)73-56;;/h20-21,23,28,31,34-37,41,52-53,56-57,76,84H,12-19,22,24-27H2,1-11H3,(H15,63,64,65,66,67,68,69,71,72,73,74,77,78,79,80,81,82,83,85,86);1H3;/q;;+2/p-2/t31-,34-,35-,36-,37+,41-,52-,53-,56-,57+,59-,60+,61+,62+;;/m1../s1 JEWJRMKHSMTXPP-WZHZPDAFSA-L 1344.38230 1343.58780 [H][C@]12[C@H](CC(N)=O)[C@@]3(C)CCC(=O)NC[C@@H](C)OP([O-])(=O)O[C@H]4[C@@H](O)[C@H](O[C@@H]4CO)n4c[n+](c5cc(C)c(C)cc45)[Co-3]456(C)N1C3=C(C)C1=[N+]4C(=CC3=[N+]5C(=C(C)C4=[N+]6[C@]2(C)[C@@](C)(CC(N)=O)[C@@H]4CCC(N)=O)[C@@](C)(CC(N)=O)[C@@H]3CCC(N)=O)C(C)(C)[C@@H]1CCC(N)=O KEGG:D03246|PDBeChem:COB|CAS:13422-55-4|KEGG:C06453|DrugBank:DB03614|COMe:MOL000085|Gmelin:124528 CHEBI:48831|CHEBI:25291|CHEBI:6869 chebi_ontology owl:Class UBERON:0010543 biolink:NamedThing acropodial skeleton The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the autopodium - i.e. the bones of the digits or their cartilaginous precursors[VSAO,modified]. tmpxe7fu0cj_hp_relaxed.owl skeletal parts of acropodium|digits skeleton|phalangeal skeleton|skeleton of digits|skeletal parts of acropodial region|set of phalanges|acropodium|acropodium skeleton|acropodial skeleton|digital skeleton VSAO:0005028|FMA:231315 uberon owl:Class UBERON:0002429 biolink:NamedThing cervical lymph node Cervical lymph nodes are lymph nodes found in the neck. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl lymph node of neck FMA:61213|NCIT:C32298|MA:0000736|UMLS:C0588054 http://upload.wikimedia.org/wikipedia/commons/4/4c/Lymph_node_regions.jpg uberon owl:Class CL:0000149 biolink:NamedThing visual pigment cell tmpxe7fu0cj_hp_relaxed.owl pigment cell cell owl:Class UBERON:0002445 biolink:NamedThing ulnare The postaxial bone of the proximal carpal region. Found in close approximation to the ulna, often in articulation[PHENOSCAPE:ad]. tmpxe7fu0cj_hp_relaxed.owl triangular|triangular bone|triquetrum|os triquetrum|cuneiform of hand|os ulnare|cuneiform bone of hand|cuneiform bone of manus|triquetral bone|ulnar carpal bone|triquetral UMLS:C0223739|FMA:23715|EMAPA:36167|MA:0001347|AAO:0000845|NCIT:C12858|galen:Triquetral http://upload.wikimedia.org/wikipedia/commons/5/50/Carpus.png uberon owl:Class One of two element that constitute the basal row of carpals. It articulates with the ulna, radius, radiale, centrale (element Y), and carpal 5(4). This element originates from one condensation center or the fusion of two elements (ulnare and intermedium). Occasionally it may fuse to carpal 5(4), the radiale, or other elements.[AAO] this bone is termed the triquetral bone in some mammalian taxa, notably humans HP:0009959 biolink:NamedThing Duplication of phalanx of 3rd finger This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. tmpxe7fu0cj_hp_relaxed.owl Duplication of middle finger bone|Partial/complete duplication of phalanges of the 3rd finger UMLS:C4021364 doelkens 2009-05-26T09:54:51Z human_phenotype owl:Class N69bbf4c7bac54eb5a0bad433c2702ac0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006847 biolink:NamedThing cerebellar commissure A nervous system commissure that connects a left hemisphere of cerebellum and connects a right hemisphere of cerebellum. tmpxe7fu0cj_hp_relaxed.owl commissure of cerebellum|commissura cerebelli ZFA:0000490|DMBA:17754|BAMS:cbc|TAO:0000490|FMA:77522|MBA:744 uberon owl:Class UBERON:0002317 biolink:NamedThing white matter of cerebellum Regional part of cerebellum consisting of the myelinated axons lying deep to the granule cell layer, excluding the deep cerebellar nuclei and the cerebellar peduncles. tmpxe7fu0cj_hp_relaxed.owl substantia centralis medullaris cerebelli|cerebellum white matter|cerebellar white matter|medullary substance of cerebellum|substantia medullaris cerebelli|cerebellar tracts/commissures http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=691|MA:0002430|NCIT:C49217|TAO:0002183|BAMS:cbw|DMBA:16926|UMLS:C0152381|FMA:83943|BAMS:CB-white|BIRNLEX:1562|ZFA:0001708|HBA:9288|EMAPA:35235 uberon owl:Class CNS white matter that is part of the cerebellum.[TAO] in NIF this is a composite structure; in MA and FMA it is explicitly part of cerebellum. This leads to consistency problems with strict parcellation schemes like ABA, see cerebellar peduncles. In NIF this is a composite structure, this is followed partially here in weakening the relationship to overlaps GO:0061549 biolink:NamedThing sympathetic ganglion development The process whose specific outcome is the progression of a sympathetic ganglion over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl sympathetic ganglia development dph 2013-07-10T08:38:01Z biological_process owl:Class GO:0048485 biolink:NamedThing sympathetic nervous system development The process whose specific outcome is the progression of the sympathetic nervous system over time, from its formation to the mature structure. The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0003900 biolink:NamedThing Small humeral epiphyses tmpxe7fu0cj_hp_relaxed.owl Small end part of long bone in upper arm UMLS:C4025520 human_phenotype owl:Class Ne08ea14c199246849aabae52ff981c05 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004924 biolink:NamedThing submucosa of pharynx The tissue underlying the tunica mucosa of the pharynx. tmpxe7fu0cj_hp_relaxed.owl pharynx submucosa|submucous coat of pharynx|pharyngobasilar fascia|tela submucosa pharyngea|tela submucosa pharyngis|pharyngeal submucosa|submucous layer of pharynx FMA:75144|BTO:0002113|SCTID:19594009 uberon owl:Class GO:0007077 biolink:NamedThing mitotic nuclear membrane disassembly The mitotic cell cycle process in which the controlled partial or complete breakdown of the nuclear membranes during occurs during mitosis. tmpxe7fu0cj_hp_relaxed.owl mitotic nuclear envelope catabolism|local NEB|NEB|mitotic nuclear envelope degradation|nuclear envelope breakdown|mitotic nuclear envelope breakdown|mitotic nuclear envelope disassembly biological_process owl:Class HP:0006413 biolink:NamedThing Broad tibial metaphyses tmpxe7fu0cj_hp_relaxed.owl Broad wide portion of shankbone|Broad wide portion of shinbone UMLS:C2678328 human_phenotype owl:Class N54fb5799041f448a8db0675be154d0fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc7b55a7bcdce4312b68bedf700c0e856 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nec0860ee05784fdea83de0a0f25dc616 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004617 biolink:NamedThing lumbar vertebra 1 The first lumbar vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl L1 vertebra|first lumbar vertebra UMLS:C0223492|MA:0001428|EMAPA:19472|FMA:13072|NCIT:C32899 elements are to be defined spatially/topologically uberon owl:Class UBERON:0011755 biolink:NamedThing female labial swelling A genital swelling that is part of a female reproductive system. tmpxe7fu0cj_hp_relaxed.owl labial swelling|labial primordium|labioscrotal swelling of female EHDAA2:0000501|EMAPA:18329|EMAPA:30423|EHDAA:9363 uberon owl:Class GO:0046849 biolink:NamedThing bone remodeling The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. tmpxe7fu0cj_hp_relaxed.owl bone remodelling Wikipedia:Bone_remodeling biological_process owl:Class HP:0003981 biolink:NamedThing Broad radius Increased width of the radius. tmpxe7fu0cj_hp_relaxed.owl Wide radius UMLS:C4021698 human_phenotype owl:Class N0c3137c074b64d0094403ab38da71823 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0061519 biolink:NamedThing macrophage homeostasis The process of regulating the proliferation and elimination of macrophage cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. tmpxe7fu0cj_hp_relaxed.owl dph 2013-04-18T13:25:33Z biological_process owl:Class UBERON:0005486 biolink:NamedThing venous dural sinus A venous channel found between layers of dura mater in the brain. Receives blood from internal and external veins of the brain, receive cerebrospinal fluid (CSF) from the subarachnoid space, and ultimately empty into the internal jugular vein. tmpxe7fu0cj_hp_relaxed.owl venous dural|dural sinus|dural vein|s. durae matris|dural venous sinus|cranial dural venous sinus|venous dural sinus MA:0002113|EHDAA:6491|FMA:50762|EMAPA:18634|NCIT:C102627|VHOG:0001004|EHDAA2:0002169 Gray488:blue.gif the MA placement should be checked uberon owl:Class GO:0071826 biolink:NamedThing ribonucleoprotein complex subunit organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. tmpxe7fu0cj_hp_relaxed.owl protein-RNA complex subunit organization|ribonucleoprotein complex subunit organisation|RNA-protein complex subunit organization mah 2010-09-08T10:10:35Z biological_process owl:Class UBERON:0010557 biolink:NamedThing pedal digit 1 metatarsal cartilage element A pedal digit metatarsal cartilage condensation that is part of a pedal digit 1 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl hind limb digit 1 metatarsal cartilage condensation|pedal digit I metatarsal cartilage element|foot digit 1 metatarsal cartilage element|toe 1 metatarsal cartilage condensation EMAPA:18106 uberon owl:Class N757fca50cd874b198c28eaedddcc136a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0072659 biolink:NamedThing protein localization to plasma membrane A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl protein localization in plasma membrane|protein targeting to plasma membrane|protein-plasma membrane targeting|protein localisation in plasma membrane tb 2009-07-10T10:29:23Z GO:0072661|GO:0090002 biological_process owl:Class UBERON:0015482 biolink:NamedThing right hepatic artery A hepatic artery that is part of a right lobe of liver. tmpxe7fu0cj_hp_relaxed.owl right branch of hepatic artery proper|ramus dexter (arteria hepatica propria)|right part of hepatic artery proper FMA:14778|EMAPA:37376|MA:0003097 uberon owl:Class UBERON:0017261 biolink:NamedThing intertarsal sesamoid A sesamoid element that is part of a tarsal skeleton. tmpxe7fu0cj_hp_relaxed.owl tarsal sesamoid http://purl.bioontology.org/ontology/provisional/c97fd8d8-cf3e-4326-938d-bea58477423d uberon owl:Class CHEBI:35735 biolink:NamedThing dicarboxylic acid monoamide tmpxe7fu0cj_hp_relaxed.owl dicarboxylic acid monoamides KEGG:C04131 CHEBI:13210|CHEBI:23691|CHEBI:6976 chebi_ontology owl:Class N404965e7384d4421a333e09cbd3706c1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008952 biolink:NamedThing Shoulder muscle hypoplasia Underdevelopment of muscles of the shoulder. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped shoulder muscle UMLS:C1969001 human_phenotype owl:Class N84bb2c2ef30e4effa918409ebccc2710 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2e192ecb93ba46a09fda51208e542ba0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000222 biolink:NamedThing mesodermal cell A cell of the middle germ layer of the embryo. tmpxe7fu0cj_hp_relaxed.owl mesoderm cell|mesoblast FMA:72554 cell owl:Class Na814812853aa4ead8d2d24c9116c5f2b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030088 biolink:NamedThing Increased serum testosterone level An elevated circulating testosterone level in the blood. tmpxe7fu0cj_hp_relaxed.owl High serum testosterone levels|Increased serum testosterone levels|Increased testosterone|High serum testosterone level UMLS:C0241358|UMLS:C4072885 HPO:skoehler owl:Class Nbd81b52a95cc48baa2edd450614e56fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HGNC:317 biolink:NamedThing AFP (human) A protein coding gene AFP in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class UBERON:0001818 biolink:NamedThing tarsal gland A modified lobulated sebaceous gland at the rim of an eyelid, responsible for the supply of meibum. tmpxe7fu0cj_hp_relaxed.owl palpebral gland|glandula tarsales|tarsoconjunctival gland|Meibomian gland|gland of Meibom UMLS:C0025181|FMA:59104|NCIT:C33075|MESH:D008537|BTO:0004165|GAID:899|MA:0001249 http://upload.wikimedia.org/wikipedia/commons/1/1e/Gray1205.png uberon owl:Class in mice, meibomian gland development is initiated around E18.5 with the formation of an epithelial placode and mesenchymal condensation, similar to that observed in hair follicle development; invagination of the epithelium into the developing mesenchyme then continues from birth to about P3 with initial branching of the epithelial cord detected at P5; by P8 the developing meibomian gland shows extensive ductal branching and the formation of distinct acini with mature meibomian glands present by P15 or eyelid opening[PMID:20664693] GO:0097194 biolink:NamedThing execution phase of apoptosis A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. tmpxe7fu0cj_hp_relaxed.owl execution phase of apoptotic process|apoptosis pr 2011-11-23T09:45:24Z biological_process owl:Class UBERON:0000366 biolink:NamedThing flexor muscle A skeletal muscle whose contraction bends a joint. tmpxe7fu0cj_hp_relaxed.owl flexor ZFA:0005271|FMA:74999|FMA:74559|TAO:0005271|BTO:0001257 uberon owl:Class A muscle that decreases the angle of a joint.[TAO] UBERON:0000399 biolink:NamedThing jejunal mucosa A mucosa that is part of a jejunum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl jejunal mucous membrane|jejunum mucous membrane|mucosa of jejunum|mucosa of organ of jejunum|jejunum mucosa|jejunum mucosa of organ|mucous membrane of jejunum|jejunum organ mucosa|organ mucosa of jejunum MA:0003214|FMA:14949|EMAPA:27109|CALOHA:TS-0495|BTO:0001742 uberon owl:Class HP:0002190 biolink:NamedThing Choroid plexus cyst A cyst occurring within the choroid plexus within a cerebral ventricle. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:230790004|UMLS:C0338597 Choroid plexus cysts can be observed on prenatal ultrasound examinations and are associated with a weakly increased risk for fetal chromosome abnormalities such as trisomy 18. human_phenotype owl:Class Nf2bf15be04a24d38a0efc2f3802e3a95 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000168 biolink:NamedThing Abnormality of the gingiva Any abnormality of the gingiva (also known as gums). tmpxe7fu0cj_hp_relaxed.owl Abnormality of the gums|Gingival abnormality UMLS:C4021816 The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth. human_phenotype owl:Class Nc361dee17e6e4f6c96adaa31416b8b84 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:25512 biolink:NamedThing neurotransmitter An endogenous compound that is used to transmit information across the synapse between a neuron and another cell. tmpxe7fu0cj_hp_relaxed.owl neurotransmitters Wikipedia:Neurotransmitter chebi_ontology owl:Class HP:0011381 biolink:NamedThing Aplasia of the semicircular canal Absence of the semicircular canal. tmpxe7fu0cj_hp_relaxed.owl Absent semicircular canal UMLS:C4023385 peter 2012-03-09T07:14:57Z human_phenotype owl:Class Nee7675a4c5a94e858d5c14fe8105967c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009714 biolink:NamedThing intermaxillary process The primordial mass of tissue formed by the merging of the medial nasal prominences of the embryo; it contributes to the intermaxillary portion of the upper jaw, the prolabial portion of the upper lip, and the primary palate. tmpxe7fu0cj_hp_relaxed.owl intermaxillary segment|globular process|globular processes of his EHDAA2:0000868|EHDAA:7856|FMA:295872 requires verification. Note EHDAA2 has this as coming from both lateral and medial prominences. See also: median cleft lip uberon owl:Class HP:0100410 biolink:NamedThing Complete duplication of the middle phalanx of the 3rd toe Complete duplication of middle phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the middle phalanx of the third toe|Complete duplication of the middle bone of the 3rd toe UMLS:C4020987 human_phenotype owl:Class Ne18fff95d2864e88b54592b3e4cdac33 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006010 biolink:NamedThing hyaloid canal A small transparent canal running through the vitreous body from the optical nerve disc to the lens. It is formed by an invagination of the hyaloid, a membrane which encloses the vitreous body[WP]. tmpxe7fu0cj_hp_relaxed.owl Cloquet's canal|Stilling's canal|canalis hyaloideus|canal of Cloquet FMA:58837 http://upload.wikimedia.org/wikipedia/commons/e/eb/Gray869.png uberon owl:Class HP:0008383 biolink:NamedThing Slow-growing nails Nails whose growth is slower than normal. tmpxe7fu0cj_hp_relaxed.owl Slow-growing nails UMLS:C1835238 HP:0008411 human_phenotype owl:Class Nfe3b5eae99ca4e8ca0087a43cfa7ba77 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003084 biolink:NamedThing heart primordium Bilateral groups of cells consisting of three rows: one row of endocardial precursors medially and two rows of myocardical precursors laterally. The two populations fuse at the midline to form the heart rudiment or cone. tmpxe7fu0cj_hp_relaxed.owl cardiac field|fused heart primordium AAO:0011044|XAO:0000336|ZFA:0000028|TAO:0000028|NCIT:C34276|UMLS:C1514450|BTO:0001887 should probably be merged with heart rudiment. uberon owl:Class The fused aspects of ventral mesoderm, which have migrated from either side of the prechordal plate, and fused ventrally, just behind the cement gland. They will give rise to the endocardium at NF stage 27&28.[AAO]|Bilateral groups of cells consisting of three rows: one row of endocardial precursors medially and two rows of myocardical precursors laterally. The two populations fuse at the midline between 21 and 26 somites to form the heart rudiment or cone. Stainier 2001.[TAO] relationship loss: develops_from lateral mesoderm (TAO:0001065)[TAO] HP:0008301 biolink:NamedThing Dermatan sulfate excretion in urine An increased concentration of dermatan sulfate in the urine. tmpxe7fu0cj_hp_relaxed.owl Dermatan sulphate excretion in urine UMLS:C1854774 Dermatan sulfate is a a glycosaminoglycan (mucopolysaccharide) found in skin, blood vessels, heart valves, tendons, and lungs. human_phenotype owl:Class Na17115fecb1c4d8bac1996a51d074f40 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004910 biolink:NamedThing epithelium of male gonad An epithelium surrounding a testis. tmpxe7fu0cj_hp_relaxed.owl testis sheath|testis epithelium BTO:0001364|EMAPA:17973|FBbt:00004955 after reasoning this should subsume the more specific germinal epithelium classes. We include the fly structure here although it is not clear if the sheath is an epithelium or a multi-tissue structure that includes epithelium as parts uberon owl:Class UBERON:0005966 biolink:NamedThing outflow part of left atrium An outflow tract of atrium that is part of a left atrium. tmpxe7fu0cj_hp_relaxed.owl main part of left atrium|outflow tract of left atrium FMA:9551 uberon owl:Class CHEBI:17347 biolink:NamedThing testosterone An androstanoid having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5.. tmpxe7fu0cj_hp_relaxed.owl Testosteron|4-androsten-17beta-ol-3-one|17beta-Hydroxy-4-androsten-3-one|testosterone|testosteronum|Androderm|Testosterone|17beta-hydroxyandrost-4-en-3-one|testosterona|TESTOSTERONE|17beta-hydroxy-4-androsten-3-one 0 C19H28O2 InChI=1S/C19H28O2/c1-18-9-7-13(20)11-12(18)3-4-14-15-5-6-17(21)19(15,2)10-8-16(14)18/h11,14-17,21H,3-10H2,1-2H3/t14-,15-,16-,17-,18-,19-/m0/s1 MUMGGOZAMZWBJJ-DYKIIFRCSA-N 288.42440 288.20893 [H][C@@]12CCC3=CC(=O)CC[C@]3(C)[C@@]1([H])CC[C@]1(C)[C@@H](O)CC[C@@]21[H] KEGG:D00075|KNApSAcK:C00003675|CAS:58-22-0|LIPID_MAPS_instance:LMST02020002|PDBeChem:TES|PMID:11786693|PMID:24498482|DrugBank:DB00624|Beilstein:1915399|Beilstein:3653705|Wikipedia:Testosterone|Reaxys:1915399|KEGG:C00535|Drug_Central:2607|Gmelin:538843|PMID:18900503|HMDB:HMDB0000234|PMID:10438974 CHEBI:15214|CHEBI:9461|CHEBI:26883|CHEBI:45798 chebi_ontology owl:Class N1615b06b22b24a2bacf8d35fd28b1fe5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0048313 biolink:NamedThing Golgi inheritance The partitioning of Golgi apparatus between daughter cells at cell division. tmpxe7fu0cj_hp_relaxed.owl Golgi division|Golgi partitioning biological_process owl:Class CHEBI:29103 biolink:NamedThing potassium(1+) A monoatomic monocation obtained from potassium. tmpxe7fu0cj_hp_relaxed.owl potassium(1+)|potassium cation|potassium(1+) ion|POTASSIUM ION|K(+)|potassium(I) cation|K+ +1 K InChI=1S/K/q+1 NPYPAHLBTDXSSS-UHFFFAOYSA-N 39.09830 38.96316 [K+] KEGG:D08403|PDBeChem:K|Gmelin:15203|CAS:24203-36-9|KEGG:C00238 CHEBI:26219|CHEBI:8345|CHEBI:49685 chebi_ontology owl:Class UBERON:0005133 biolink:NamedThing metanephric glomerulus vasculature The metanephric glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the metanephric glomerulus[GO]. tmpxe7fu0cj_hp_relaxed.owl UBERON:0005143 uberon owl:Class GO:0032106 biolink:NamedThing positive regulation of response to extracellular stimulus Any process that activates, maintains or increases the rate of a response to an extracellular stimulus. tmpxe7fu0cj_hp_relaxed.owl activation of response to extracellular stimulus|upregulation of response to extracellular stimulus|stimulation of response to extracellular stimulus|up-regulation of response to extracellular stimulus|up regulation of response to extracellular stimulus biological_process owl:Class CHEBI:17381 biolink:NamedThing porphobilinogen A dicarboxylic acid that is pyrole bearing aminomethyl, carboxymethyl and 2-carboxyethyl substituents at positions 2, 3 and 4 respectively. tmpxe7fu0cj_hp_relaxed.owl 3-[5-(aminomethyl)-4-(carboxymethyl)-1H-pyrrol-3-yl]propanoic acid|Porphobilinogen 0 C10H14N2O4 InChI=1S/C10H14N2O4/c11-4-8-7(3-10(15)16)6(5-12-8)1-2-9(13)14/h5,12H,1-4,11H2,(H,13,14)(H,15,16) QSHWIQZFGQKFMA-UHFFFAOYSA-N 226.22924 226.09536 NCc1[nH]cc(CCC(O)=O)c1CC(O)=O KNApSAcK:C00007339|PMID:21627493|CAS:487-90-1|MetaCyc:PORPHOBILINOGEN|Beilstein:220051|PMID:21383008|PMID:22279024|HMDB:HMDB0000245|DrugBank:DB02272|KEGG:C00931|PMID:22974111|PMID:22770225|Reaxys:220051|PDBeChem:PBG|PMID:22740490|Wikipedia:Porphobilinogen CHEBI:14867|CHEBI:26212|CHEBI:8335|CHEBI:44832 chebi_ontology owl:Class Na4cba23d97514e008304b61ab9b85fff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010356 biolink:NamedThing Abnormality of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Abnormality of the outermost bone of the 2nd toe UMLS:C4023885 doelkens 2009-07-16T11:45:34Z owl:Class N226a44551b9d4730ad3c7338617c1379 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0045786 biolink:NamedThing negative regulation of cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle. tmpxe7fu0cj_hp_relaxed.owl down-regulation of progression through cell cycle|downregulation of progression through cell cycle|inhibition of progression through cell cycle|down regulation of progression through cell cycle|negative regulation of cell cycle progression|negative regulation of progression through cell cycle biological_process owl:Class HP:0011448 biolink:NamedThing Ankle clonus Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. tmpxe7fu0cj_hp_relaxed.owl Abnormal rhythmic movements of ankle SNOMEDCT_US:39055007|UMLS:C0238651 Ankle clonus is generally caused by corticospinal disease. peter 2012-03-18T05:09:48Z HP:0002541 owl:Class Na4a36fbdb7994c49b2bae1432c4351b8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007265 biolink:NamedThing Absent mesencephalon Agenesis of the midbrain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024913 Midbrain and mesencephalon are synonymous. human_phenotype owl:Class Nc43e2b81d13c46028eecc4018b80f086 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003634 biolink:NamedThing pedal digit 4 4th digit of the hind autopod. tmpxe7fu0cj_hp_relaxed.owl digitus quartis pedis|hind limb digit 4|hind digit 4|4th toe|fourth toe|toe 4|digitus quartus [iv]|foot digit 4|hind digit IV|digit 4 of hind-paw|pedal digit IV|fourth digit of foot|digitus quartus (IV) pedis|pes digit IV EHDAA2:0002052|AAO:0010656|MA:0000468|EMAPA:17469|BTO:0002352|FMA:25052|NCIT:C52842|UMLS:C1708085 uberon owl:Class GO:0110043 biolink:NamedThing positive regulation of pharynx morphogenesis Any process that activates or increases the frequency, rate or extent of pharynx morphogenesis. tmpxe7fu0cj_hp_relaxed.owl kmv 2017-07-24T21:09:48Z biological_process owl:Class UBERON:0002264 biolink:NamedThing olfactory bulb A bulbous anterior projection of the olfactory lobe that is the place of termination of the olfactory nerves and is especially well developed in lower vertebrates (as fishes)[BTO]. tmpxe7fu0cj_hp_relaxed.owl olfactory lobe|olfactory lobe (Barr & Kiernan)|bulbus olfactorius|bulbus olfactorius (Morgagni) HBA:9303|FMA:77624|ZFA:0000402|BIRNLEX:1137|BM:Tel-OB|BTO:0000961|BAMS:Olf|DHBA:10307|UMLS:C0028936|EHDAA2:0004705|MA:0000194|NCIT:C28401|GAID:633|CALOHA:TS-0702|TAO:0000402|MESH:A08.186.211.577.699.573|AAO:0010165|BAMS:OB|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=279|VHOG:0000033|EMAPA:32809|EV:0100173|XAO:0004180|BAMS:DLB http://upload.wikimedia.org/wikipedia/commons/f/f9/1543,Vesalius%27OlfactoryBulbs.jpg|http://upload.wikimedia.org/wikipedia/commons/d/d2/1543%2CVesalius%27OlfactoryBulbs.jpg uberon owl:Class The part of the forebrain in which the olfactory nerves end and the olfactory tracts originate. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]|Part of the telencephalon comprised of anterior outgrowths of either of the cerebral hemispheres in which the olfactory nerve exits.[AAO]|Segment of neural tree organ which is continuous with a set of olfactory nerves and an olfactory tract[FMA:77624].|Part of the rostral part of the cerebrum where axons of olfactory cells from the nasal mucosa terminate. Projects onto olfactory parts of pallium via olfactory tracts The presence of paired evaginated hemispheres and olfactory bulbs in both agnathan and gnathostome radiations suggests that such hemispheres were also present in the common ancestor.[well established][VHOG] In most vertebrates, the olfactory bulb is the most rostral (forward) part of the brain. In humans, however, the olfactory bulb is on the inferior (bottom) side of the brain. The olfactory bulb is supported and protected by the cribriform plate which in mammals, separates it from the olfactory epithelium, and which is perforated by olfactory nerve axons. The bulb is divided into two distinct structures, the main olfactory bulb, and the accessory olfactory bulb|Note that in uberon 'main olfactory bulb' is a separate class, but some ontologies may treat this as partially synonymous. The distinction may only make sense in tetrapods with a vomeronasal organ (olfactory nerves terminate in OB in fishes and in main OB in tetrapods - Butler and Hodos) the olfactory bulbs develop as bilateral evaginations from a region of the prosencephalic neural plate intercalated between the septal and the cortical anlagen (Cobos et al. 2001b, Rubenstein et al. 1998). Comparing the structure of the olfactory bulb among vertebrate species, such as the leopard frog and the lab mouse, reveals that they all share the same fundamental layout(WP). HP:0031509 biolink:NamedThing Dry nipple Abnormally dry skin in the area of the nipple of the breast. tmpxe7fu0cj_hp_relaxed.owl 2017-09-21 02:19:46+00:00 peter owl:Class Nf08393ac5f544949a166218710179955 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003267 biolink:NamedThing Reduced orotidine 5-prime phosphate decarboxylase level An abnormal decrease in orotidine 5'-phosphate decarboxylase level. tmpxe7fu0cj_hp_relaxed.owl Orotidine-5-prime-phosphate decarboxylase defect UMLS:C4025636|UMLS:C4020845 The enzyme orotidine-5-prime-phosphate decarboxylase (EC 4.1.1.23) catalyzes the reaction H(+) + orotidine 5'-phosphate = CO(2) + UMP (uridine monophosphate). The enzyme is thusinvolved in pyrimidine biosynthesis. human_phenotype owl:Class Nde21fbee41de4a7a91f71fdb8c9ee072 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007361 biolink:NamedThing Abnormal pons morphology A structural abnormality of the pons. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the pons UMLS:C4024905 The pons is the portion of the brainstem superior to the medulla oblongata. peter 2008-03-31T05:32:00Z owl:Class N127b6a43243247a18ab3162b25098046 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb05718ff50444e9ca348ad491ee04b1b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002334 biolink:NamedThing submandibular duct The duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue. tmpxe7fu0cj_hp_relaxed.owl submaxillar gland duct|Wharton's duct|ductus submandibularis|ductus submaxillaris|submaxillary duct|submandibular salivary duct NCIT:C33649|UMLS:C0227472|BTO:0004556|MA:0002698|EMAPA:35833|FMA:86266 http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray1024.png uberon owl:Class FMA also has 'main submandibular duct' (FMA:59899) GO:0002618 biolink:NamedThing positive regulation of macrophage antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of macrophage antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl upregulation of macrophage antigen processing and presentation|stimulation of macrophage antigen processing and presentation|activation of macrophage antigen processing and presentation|up-regulation of macrophage antigen processing and presentation|up regulation of macrophage antigen processing and presentation biological_process owl:Class HP:0002696 biolink:NamedThing Abnormal parietal bone morphology Any abnormality of the parietal bone of the skull. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the parietal bone|Abnormality of the parietal bone of skull UMLS:C4021834 human_phenotype owl:Class N610bbed306014aaab871fa46840b555d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0005009 biolink:NamedThing renal principal cell A cuboidal epithelial cell of the kidney which regulates sodium and potassium balance. The activity of sodium and potassium channels on the cells apical membrane is regulated by aldosterone and vasopressin. In mammals these cells are located in the renal collecting ducts. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class CHEBI:46761 biolink:NamedThing dipeptide Any molecule that contains two amino-acid residues connected by peptide linkages. tmpxe7fu0cj_hp_relaxed.owl Dipeptid|dipeptides|Dipeptide KEGG:C00107 CHEBI:4634|CHEBI:23835 chebi_ontology owl:Class CHEBI:90799 biolink:NamedThing dipeptide zwitterion Any peptide zwitterion comprising two amino acid residues. Major structure at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl a dipeptide 0 C4H6N2O3R2 130.102 130.03784 [NH3+]C(C(NC(C([O-])=O)*)=O)* chebi_ontology owl:Class N1619c546a7c24a5191219bd57d7253bf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410061 biolink:NamedThing Increased level of galactitol in plasma An increase in the level of galactitol in the plasma. tmpxe7fu0cj_hp_relaxed.owl 2018-01-29 22:37:31+00:00 ORCID:0000-0001-5208-3432 owl:Class N58a33e4eca744d42b4fbb656e9cbf92f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012072 biolink:NamedThing palatal part of dermatocranium tmpxe7fu0cj_hp_relaxed.owl palatal series|dermatocranium, palatal series uberon owl:Class HP:0003327 biolink:NamedThing Axial muscle weakness Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843697 human_phenotype owl:Class N25a4791b12f447c7bd687bd817e15930 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002115 biolink:NamedThing jejunum The portion of the small intestine that extends from the duodenum to the ileum. tmpxe7fu0cj_hp_relaxed.owl mid-intestine|intestinum jejunum|middle intestine GAID:318|BTO:0000657|MAT:0000045|OpenCyc:Mx4rwATkPJwpEbGdrcN5Y29ycA|galen:Jejunum|CALOHA:TS-0496|MESH:A03.492.411.620.625|NCIT:C12388|VHOG:0000053|FMA:7207|UMLS:C0022378|MA:0000340|MIAA:0000045|EV:0100074|EFO:0001333|EMAPA:18666 http://upload.wikimedia.org/wikipedia/commons/3/3d/Illu_small_intestine.jpg TODO consider ZFA:0001323 mid intestine, see also small intestine uberon owl:Class The first two fifth of the small intestine beyond the duodenum. It extends from the end of the duodenum to the ileum. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] jejunal The jejunum is the middle section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms middle intestine or mid-gut may be used instead of jejunum.[Wikipedia:Jejunum] UBERON:0002108 biolink:NamedThing small intestine Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]. tmpxe7fu0cj_hp_relaxed.owl intestinum tenue|mid intestine|anterior intestine|small intestine|small bowel GAID:313|FMA:7200|OpenCyc:Mx4rvVjlIJwpEbGdrcN5Y29ycA|MA:0000337|MAT:0000047|galen:SmallIntestine|TAO:0001323|EV:0100072|VHOG:0000055|XAO:0000130|MESH:A03.492.411.620|UMLS:C0021852|EMAPA:32834|CALOHA:TS-0942|EFO:0000841|ZFA:0001323|AAO:0010397|MIAA:0000047|BTO:0000651|NCIT:C12386 http://upload.wikimedia.org/wikipedia/commons/8/82/Stomach_colon_rectum_diagram.svg uberon owl:Class The terminal region of the mid intestine is comprised of specialized enterocytes that appear to play a role in mucosal immunity. Wallace et al, 2005.[TAO] Intestinal surface area also is increased in amphibians and reptiles by internal folds and occasionally by a few villi. The intestine can be divided into a small intestine and a slightly wider large intestine.[well established][VHOG] CL:0002377 biolink:NamedThing immature Schwann cell A glial cell that develops from a Schwann cell precursor. The immature Schwann cell is embedded among neurons (axons) with minimal extracellular spaces separating them from nerve cell membranes and has a basal lamina. Cells can survive without an axon present. Immature Schwann cell can be found communally ensheathing large groups of axons. tmpxe7fu0cj_hp_relaxed.owl Schwann cell ZFA:0001725 tmeehan 2010-09-24T02:10:31Z cell owl:Class N9de097f94d6e43eaa52978666561887d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfc451c49b9734e31b8bfd5e2b5be3469 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd9153f408bfc4ee58382f93100c60eaa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013649 biolink:NamedThing fused tarsal bones 1 and 2 A tarsal bone that is formed from the fusion of the 1st and 2nd tarsal bones. tmpxe7fu0cj_hp_relaxed.owl os cuneiforme mediointermedium|fused tarsals 1 and 2|tarsals 1+2|os tarsale I et II uberon owl:Class GO:1904414 biolink:NamedThing positive regulation of cardiac ventricle development Any process that activates or increases the frequency, rate or extent of cardiac ventricle development. tmpxe7fu0cj_hp_relaxed.owl up regulation of cardiac ventricle development|upregulation of cardiac ventricle development|activation of cardiac ventricle development|up-regulation of cardiac ventricle development sl 2015-06-25T19:52:27Z biological_process owl:Class N63f7d449d7514fd0803410b419db64e6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000414 biolink:NamedThing mucous gland A gland in which the principal secretory cells are mucus secreting cells. tmpxe7fu0cj_hp_relaxed.owl mucus-secreting gland|muciparous gland|glandula mucosa|mucus gland|mucous secreting gland FMA:62888|EMAPA:37913|AAO:0010601|BTO:0001979 http://upload.wikimedia.org/wikipedia/commons/c/c0/Gray1021.png uberon owl:Class In frogs and salamanders, this is the smaller of the two types of gland, the other being the granular (poison) gland. In these species the mucous gland is a cluster of cells that release secretion into a common duct[Kardong] UBERON:0000978 biolink:NamedThing leg The portion of the hindlimb that contains both the stylopod and zeugopod. tmpxe7fu0cj_hp_relaxed.owl lower extremity|tetrapod leg VHOG:0000345|EHDAA:8289|EMAPA:17489|EFO:0001411|CALOHA:TS-2206|EHDAA2:0000972|EHDAA:6176|GAID:49|BTO:0000721|EHDAA:5151|OpenCyc:Mx4rvViYzZwpEbGdrcN5Y29ycA|MESH:D035002|MA:0000047 we use the less open to misinterpretation 'hindlimb zeugopod'. Editor note: currently declared as overlapping foot, as AOs disagree over whether some ankle parts are in the leg or foot uberon owl:Class Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] The term leg can mean: [1] an appendage on which an animal walks [2] the entire hindlimb of a tetrapod [3] the segment of a human leg between knee and ankle (cf FMA) [4] the region of a hindlimb include the stylopod and zeugopod, but excluding the autopod. We define this class as [4], and thus 'leg' is compltely analagous to 'arm'. For [1], see the class 'locomotive weight-bearing appendage'. For [2] we use 'hindlimb'. For HP:0020064 biolink:NamedThing Abnormal eosinophil count Any deviation from the normal number of eosinophils per volume in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2018-10-17 13:48:52+00:00 robinp owl:Class N6ddcb9ba709046aaa3ed9f7551998a0c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0030990 biolink:NamedThing intraciliary transport particle A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. tmpxe7fu0cj_hp_relaxed.owl IFT complex|intraflagellar transport particle|intraflagellar transport complex Note that we deem cilia and microtubule-based flagella to be equivalent. cellular_component owl:Class N21cdac902a3c45529e1ecc4c1fd1a58a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003313 biolink:NamedThing heart rudiment development The progression of the heart rudiment over time, from its initial formation to the mature structure. The heart rudiment is a cone-like structure that is formed when myocardial progenitor cells of the heart field fuse at the midline. The heart rudiment is the first structure of the heart tube. tmpxe7fu0cj_hp_relaxed.owl heart cone development dph 2009-10-27T08:32:40Z biological_process owl:Class HP:0009495 biolink:NamedThing Pseudoepiphysis of the 2nd finger A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl Accessory index finger epiphysis UMLS:C4021465 doelkens 2009-01-16T01:07:16Z HP:0006142|HP:0004107 owl:Class N62259f93c85f489aa069f7608d8fef53 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N181862639d0a4dd79dfd65c5fa4b35b4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000047 biolink:NamedThing neuronal stem cell Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors. tmpxe7fu0cj_hp_relaxed.owl NSC|neural stem cell FMA:86684|CALOHA:TS-2360|BTO:0002881 cell owl:Class GO:2000795 biolink:NamedThing negative regulation of epithelial cell proliferation involved in lung morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of epithelial cell proliferation involved in lung morphogenesis. tmpxe7fu0cj_hp_relaxed.owl pr 2011-06-25T07:22:42Z biological_process owl:Class UBERON:0013525 biolink:NamedThing stomach lumen The anatomical space that is enclosed by a stomach. tmpxe7fu0cj_hp_relaxed.owl gastric cavity|cavity of stomach FMA:14585|EMAPA:18395 uberon owl:Class Organ cavity which is bound by the internal surface of the wall of stomach. Examples: There is only one cavity of stomach[FMA:14585]. N270bc494baaf42219cb6bc3276c07c21 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005244 biolink:NamedThing Gastrointestinal infarctions tmpxe7fu0cj_hp_relaxed.owl Death of digestive organ tissue due to poor blood supply|GI infarctions UMLS:C3152231 human_phenotype owl:Class N4a14c9399ba14d00bd17899c211cf7be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001153 biolink:NamedThing Septate vagina The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. tmpxe7fu0cj_hp_relaxed.owl Double vagina SNOMEDCT_US:47054003|UMLS:C0266411 human_phenotype owl:Class N9501ede66ca14cf9a9f58b43794560fb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007239 biolink:NamedThing tunica media of artery A tunica media that is part of a artery. tmpxe7fu0cj_hp_relaxed.owl arterial media|tunica media (arteriae) FMA:14273|NCIT:C49321|EV:0100029|SCTID:84300001|UMLS:C1710627|EMAPA:36294 uberon owl:Class HP:0011932 biolink:NamedThing Abnormal superior cerebellar peduncle morphology An anomaly of the superior cerebellar peduncle. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the superior cerebellar peduncle UMLS:C4023120 peter 2012-06-10T01:26:47Z human_phenotype owl:Class Nece8a7c4bb8e4c8fbce785b69d3a7785 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb39a017ec92548c4abd615f7113b9d1d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0033696 biolink:NamedThing heterochromatin boundary formation A process that forms a boundary that limits the spreading of heterochromatin along a chromosome. tmpxe7fu0cj_hp_relaxed.owl negative regulation of heterochromatin spreading|negative regulation of extent of heterochromatin formation|regulation of heterochromatin spreading|regulation of extent of heterochromatin assembly|negative regulation of extent of heterochromatin assembly|regulation of extent of heterochromatin formation|maintenance of heterochromatin boundaries https://github.com/geneontology/go-ontology/issues/22028 GO:0031454 biological_process owl:Class UBERON:0014508 biolink:NamedThing distal interphalangeal joint of manual digit 3 A distal inter-phalangeal joint that is part of the 3rd manual digit. tmpxe7fu0cj_hp_relaxed.owl forelimb coffin joint|equine second interphalangeal joint of forelimb digit III|distal interphalangeal joint of manual digit III|equine distal interphalangeal joint of forelimb|distal interphalangeal joint of middle finger FMA:35337 uberon owl:Class UBERON:0004791 biolink:NamedThing thymus trabecula The thymic connective tissue which extends into the parenchyma. tmpxe7fu0cj_hp_relaxed.owl trabecula of thymus gland|thymus gland trabecula|trabecula of thymus|thymic trabecula NCIT:C33773|MA:0002674|UMLS:C1515431 uberon owl:Class GO:0099098 biolink:NamedThing microtubule polymerization based movement The movement of a cellular component as a result of microtubule polymerization. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0046785 biolink:NamedThing microtubule polymerization The addition of tubulin heterodimers to one or both ends of a microtubule. tmpxe7fu0cj_hp_relaxed.owl microtubule assembly|microtubule formation biological_process owl:Class GO:0007076 biolink:NamedThing mitotic chromosome condensation The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class PATO:0001592 biolink:NamedThing increased curvature A curvature which is relatively high. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class UBERON:0006762 biolink:NamedThing suspensory ligament of lens The zonule of Zinn (Zinn's membrane, ciliary zonule) is a ring of fibrous strands connecting the ciliary body with the crystalline lens of the eye. The zonule of Zinn is split into two layers: a thin layer, which lines the hyaloid fossa, and a thicker layer, which is a collection of zonular fibers. Together, the fibers are known as the suspensory ligament of the lens[WP]. Modified or toughened vitreous that suspend the lens at the equator to the non-pigmented epithelium of the ciliary zone. In zebrafish, dorsal zonules are thickened as compared to ventral zonules. In both dorsal and ventral regions, these fibers delimit the vitreous body aqueous humor boundary[ZFA]. tmpxe7fu0cj_hp_relaxed.owl zonules|Zinn's membrane|zonule|zonular fiber|ciliary zonule|suspensory ligament of the lens|zonula|zonula ciliaris|zonule of Zinn ZFA:0005573|FMA:58838 http://upload.wikimedia.org/wikipedia/commons/1/1e/Schematic_diagram_of_the_human_eye_en.svg uberon owl:Class HP:0002834 biolink:NamedThing Flared femoral metaphysis tmpxe7fu0cj_hp_relaxed.owl Flared metaphysis of thigh bone UMLS:C4025674 human_phenotype owl:Class Ndb226e759b3e4dd986ca1bc2260e8e7a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010026 biolink:NamedThing ventral part of pharyngeal pouch 3 tmpxe7fu0cj_hp_relaxed.owl ventral 3rd branchial pouch|ventral 3rd arch pharyngeal pouch endoderm|ventral branchial pouch 3 endoderm|caudal ventral aspect of third dorsal pharyngeal pouch|ventral pharyngeal pouch 3|ventral wing of pharyngeal pouch 3|ventral pharyngeal pouch 3 endoderm EHDAA2:0002173|EMAPA:16759 uberon owl:Class The ventral wings fuse to form the cytoreticular cells of the thymus[WP] the caudal ventral part of the pouch gives rise to the thymus epithelium CHEBI:16995 biolink:NamedThing oxalic acid An alpha,omega-dicarboxylic acid that is ethane substituted by carboxyl groups at positions 1 and 2. tmpxe7fu0cj_hp_relaxed.owl HOOCCOOH|oxalic acid|Ethanedioic acid|Oxalsaeure|H2ox|Ethandisaeure|ethane-1,2-dioic acid|Oxalic acid|OXALIC ACID 0 C2H2O4 InChI=1S/C2H2O4/c3-1(4)2(5)6/h(H,3,4)(H,5,6) MUBZPKHOEPUJKR-UHFFFAOYSA-N 90.03490 89.99531 OC(=O)C(O)=O Beilstein:385686|DrugBank:DB03902|PMID:22735334|PDBeChem:OXD|Reaxys:385686|Wikipedia:Oxalic_acid|LIPID_MAPS_instance:LMFA01170031|PMID:15587083|KEGG:C00209|MetaCyc:OXALATE|HMDB:HMDB0002329|KNApSAcK:C00001198|Gmelin:2208|CAS:144-62-7 CHEBI:7811|CHEBI:25730|CHEBI:44583 chebi_ontology owl:Class UBERON:0001663 biolink:NamedThing cerebral vein The cerebral veins are divisible into external and internal groups according to the outer surfaces or the inner parts of the hemispheres they drain into. The external veins are the superior cerebral veins, inferior cerebral veins, and middle cerebral vein. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl venae cerebri|venae encephali XAO:0004160|NCIT:C53037|SCTID:244392000|MESH:D002550|UMLS:C0007797|GAID:530|EMAPA:37140|Wikipedia:Cerebral_veins|MA:0002096|FMA:50981 http://upload.wikimedia.org/wikipedia/commons/9/9f/Gray568.png uberon owl:Class N715a84a2bbdd42a2baf60cf080b16ce9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004634 biolink:NamedThing thoracic vertebra 10 The tenth thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl T10 vertebra|tenth thoracic vertebra|tenth dorsal vertebra NCIT:C33721|MA:0001447|UMLS:C0459955|FMA:10037|EMAPA:19551 elements are to be defined spatially/topologically uberon owl:Class GO:0060460 biolink:NamedThing left lung morphogenesis The process in which anatomical structures of the left lung are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0060459 biolink:NamedThing left lung development The biological process whose specific outcome is the progression of a left lung from an initial condition to its mature state. This process begins with the formation of the left lung and ends with the mature structure. The left lung is the lung which is on the left side of the anterior posterior axis looking from a dorsal to ventral aspect. tmpxe7fu0cj_hp_relaxed.owl left pulmonary development biological_process owl:Class HP:0004306 biolink:NamedThing Abnormal endocardium morphology An abnormality of the endocardium. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the endomycoardium|Abnormality of the endocardium UMLS:C4021662 peter 2008-02-20T01:23:00Z HP:0005260 owl:Class N053f987c557b4310b03adbb3f7c6a910 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003112 biolink:NamedThing olfactory region Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the olfactory organ. tmpxe7fu0cj_hp_relaxed.owl ethmoid region AAO:0010206|NCIT:C98765|ZFA:0000351|EFO:0003525|XAO:0003172|TAO:0000351 uberon owl:Class Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the peripheral olfactory organ.[TAO]|Anatomical cluster that is located in the anterior region of the neurocranium and provides structural support for the olfactory organs.[AAO] GO:0098651 biolink:NamedThing basement membrane collagen trimer Any collagen timer that is part of a basement membrane. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class N4bb9e69c0419495693bb417798126005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010535 biolink:NamedThing primitive metanephric nephron A primitive nephron that is part of a metanephros. tmpxe7fu0cj_hp_relaxed.owl primitive metanephric nephron|developing metanephric nephron|primitive nephron EHDAA2:0001516 uberon owl:Class HP:0005687 biolink:NamedThing Deformed humeral heads tmpxe7fu0cj_hp_relaxed.owl Deformed head of long bone in upper arm UMLS:C4025154 human_phenotype owl:Class N7365bd5c6731466798326cb04bc37796 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005322 biolink:NamedThing mesonephric nephron A nephron that is part of a mesonephros. tmpxe7fu0cj_hp_relaxed.owl nephron of mesonephros|stage IV nephron AAO:0010387|ZFA:0005592|XAO:0000292 uberon owl:Class The structure that is the basic functional unit of the kidney.[AAO] GO:0043473 biolink:NamedThing pigmentation The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0013455 biolink:NamedThing spheno-petrosal fissure The sphenopetrosal fissure (or sphenopetrosal suture) is the cranial suture between the sphenoid bone and the petrous portion of the temporal bone. It is in the middle cranial fossa. tmpxe7fu0cj_hp_relaxed.owl sphenopetrosal fissure|fissura sphenopetrosa FMA:75038 http://upload.wikimedia.org/wikipedia/commons/8/81/Gray193.png uberon owl:Class N7374778d3ae1493aa1c05488735a8326 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000740 biolink:NamedThing Episodic paroxysmal anxiety Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1854339 An anxiety attack may manifest with one or more of the following symptoms: (i) breathing difficulty; (ii) palpitations; (iii) a feeling of unreality; (iv) pains or tightness in the chest; (v) trembling, dizziness or feeling unsteady; (vi) sweating; (vii) a feeling of faintness; (viii) a fear of dying; (ix) a feeling of losing control; (x) tingling in hands and feet (parasthesiae); (xi) choking or smothering feelings. human_phenotype owl:Class N71b1897fea6049df9625ecb1b46ff483 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009436 biolink:NamedThing Triangular shaped middle phalanx of the 3rd finger Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped middle bone of the middle finger UMLS:C4024362 doelkens 2009-01-14T03:41:31Z human_phenotype owl:Class N278fb22e897c43c28397f789852c686f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012502 biolink:NamedThing Abnormality of the internal capsule An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022875 peter 2013-11-30T09:29:18Z owl:Class Ncb442b0dbc504e0bade67b6287d3e497 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:32563 biolink:NamedThing lysinate An alpha-amino-acid anion that is the conjugate base of lysine, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl lysine anion|lysinate|lysinate(1-)|2,6-diaminohexanoate|lys(-) -1 C6H13N2O2 InChI=1S/C6H14N2O2/c7-4-2-1-3-5(8)6(9)10/h5H,1-4,7-8H2,(H,9,10)/p-1 KDXKERNSBIXSRK-UHFFFAOYSA-M 145.17970 145.09825 NCCCCC(N)C([O-])=O Gmelin:815095 chebi_ontology owl:Class GO:0035372 biolink:NamedThing protein localization to microtubule A process in which a protein is transported to, or maintained at, a microtubule. tmpxe7fu0cj_hp_relaxed.owl protein localisation to microtubule bf 2010-03-11T11:00:56Z biological_process owl:Class HP:0007036 biolink:NamedThing Hypoplasia of olfactory tract tmpxe7fu0cj_hp_relaxed.owl Underdeveloped olfactory tract UMLS:C1856655 owl:Class N2906b64517c149cf8ebee38567f04d38 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004635 biolink:NamedThing thoracic vertebra 11 The eleventh thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl T11 vertebra|eleventh dorsal vertebra|eleventh thoracic vertebra FMA:10059|NCIT:C33722|EMAPA:19552|UMLS:C0459956|MA:0001448 elements are to be defined spatially/topologically uberon owl:Class HP:0003568 biolink:NamedThing Decreased glucosephosphate isomerase level A decreased level of glucose-6-phosphate isomerase. tmpxe7fu0cj_hp_relaxed.owl Decreased glucose phosphate isomerase activity|Phosphohexose isomerase deficiency|Glucosephosphate isomerase deficiency SNOMEDCT_US:124669001|UMLS:C1291611 Deficiency of glucose-6-phosphate isomerase (EC 5.3.1.9). HP:0003290 human_phenotype owl:Class Nae2093fd1413433a962e9afe99e62672 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nedc932fc319f4d02a5a086e9a9bb33b4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005870 biolink:NamedThing olfactory pit An indentation of the olfactory placode which ends when the pits hollows out to form the nasopharynx[GO]. tmpxe7fu0cj_hp_relaxed.owl nasal pit EMAPA:16800|EHDAA2:0001295|AAO:0011068|FMA:295840|EFO:0003496|EHDAA:4772|XAO:0004073|XAO:0000275 we represent the relationship as develops from, though in fact the pit is formed as an indentation in the placode uberon owl:Class By the upgrowth of the surrounding parts the olfactory areas are converted into pits, the nasal pits or olfactory pits, which indent the fronto-nasal process and divide it into a medial and two lateral nasal processes[Wikipedia:Nasal_pit]. UBERON:0000004 biolink:NamedThing nose The olfactory organ of vertebrates, consisting of nares, olfactory epithelia and the structures and skeletal framework of the nasal cavity. tmpxe7fu0cj_hp_relaxed.owl nose|olfactory apparatus|nasus|proboscis|nasal sac|peripheral olfactory organ MA:0000281|MIAA:0000139|FMA:46472|BTO:0000840|EHDAA2:0001274|OpenCyc:Mx4rvViCbJwpEbGdrcN5Y29ycA|CALOHA:TS-2037|TAO:0000047|MESH:D009666|GAID:77|EHDAA:1502|galen:Nose|EV:0100037|ZFA:0000047|EV:0100370|NCIT:C12756|UMLS:C0028429|MAT:0000139|EMAPA:16542 http://upload.wikimedia.org/wikipedia/commons/d/d0/Canine-nose.jpg uberon owl:Class the organ that is specialized for smell and is part of the respiratory system|a protuberance in vertebrates that houses the nostrils, or nares, which admit and expel air for respiration in conjunction with the mouth. Behind the nose are the olfactory mucosa and the sinuses. Behind the nasal cavity, air next passes through the pharynx, shared with the digestive system, and then into the rest of the respiratory system. In humans, the nose is located centrally on the face; on most other mammals, it is on the upper tip of the snout[WP]. GO: The nose is the specialized structure of the face that serves as the organ of the sense of smell and as part of the respiratory system. Includes the nasi externus (external nose) and cavitas nasi (nasal cavity)[Wikipedia:Nose].|Organ that is the specialized structure of the face that contains olfactory neurons. The peripheral olfactory organ is paired[ZFA:0000047]. the structure of the nose varies across vertebrates. In tetrapods the nose is part of the respiratory system.[PMID:25312359] UBERON:0001564 biolink:NamedThing mylohyoid muscle The mylohyoid is a pharyngeal arch I muscle that participates in oral/pharyngeal behaviors and is innervated by the nerve to mylohyoid and attaches to the midline raphe linking right and left mylohyoid and the mandible. tmpxe7fu0cj_hp_relaxed.owl musculus mylohyoideus|mylohyoid|mylohyoideus|mylohyoideus muscle UMLS:C0224159|FMA:46320|MA:0002344|MFMO:0000084|EMAPA:25136|NCIT:C52962 Taxon motes: mylohyoideus and digastricus anterior of rats derived from intermandibularis posterior, see e.g. Jarvik [53] http://www.biomedcentral.com/1471-213X/8/24/table/T3 Mylohyoid:muscle.PNG uberon owl:Class The mylohyoid is a pharyngeal arch I muscle that participates in oral/pharyngeal behaviors and is innervated by the nerve to mylohyoid and attaches to the midline raphe linking R and L mylohyoid and the mandible.[FEED] HP:0100857 biolink:NamedThing Flat sella turcica An abnormally flat sella turcica. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021952 doelkens 2011-11-30T10:02:07Z human_phenotype owl:Class Na854908518974d8895f91b42c7859273 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6b5723ba651047de8ddee4e8a52feaca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2308799e44514c929446ad9b380e8bfa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011023 biolink:NamedThing Abnormal circulating prostaglandin circulation Any deviation from the normal concentration of a prostaglandin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023589 peter 2011-02-28T09:19:20Z owl:Class N654fcc31359c4fe180c4f7dc75ddcb19 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000709 biolink:NamedThing Psychosis A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs. tmpxe7fu0cj_hp_relaxed.owl Psychosis UMLS:C0033975|MSH:D011618|SNOMEDCT_US:69322001 human_phenotype owl:Class Ne81abd97307e4421bba2e7ef485547d2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009703 biolink:NamedThing Synostosis involving the 1st metacarpal Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Symphalangism affecting the 1st metacarpal|Fusion involving 1st long bone of hand|First metacarpophalangeal joint synostosis UMLS:C4021397 doelkens 2009-01-30T04:26:41Z HP:0005614|HP:0010032 human_phenotype owl:Class Nac9cb0153e5e4354934539ce5cd7cc33 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HGNC:4116 biolink:NamedThing GALE (human) A protein coding gene GALE in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class HP:0003731 biolink:NamedThing Quadriceps muscle weakness Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris). tmpxe7fu0cj_hp_relaxed.owl Quadriceps weakness SNOMEDCT_US:300948004|UMLS:C0577655 human_phenotype owl:Class N964b7767efa047c3973f50c77418325b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N487993af75cf4e1e8d17fdb8ee91f715 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007387 biolink:NamedThing Hypoplastic sweat glands Underdevelopment of the sweat glands. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped sweat glands UMLS:C1832455 human_phenotype owl:Class N9a5e236377b94b57a24fa08c6e6408e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009507 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 2nd finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the outermost bone of the index finger UMLS:C4024323 doelkens 2009-01-16T01:11:04Z human_phenotype owl:Class N8237a6192f0f4d8eabe64c97a328ac29 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006490 biolink:NamedThing Abnormality of lower-limb metaphyses tmpxe7fu0cj_hp_relaxed.owl Abnormality of the wide portion of the lower-limb bone UMLS:C4025039 peter 2008-03-28T06:02:00Z human_phenotype owl:Class N9da61d6c8dcb44dbaefd9464fe414444 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N246549b6210a43cab3de6a95a52b0b3d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015030 biolink:NamedThing pedal digit phalanx endochondral element A pedal digit phalanx bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl pedal digit phalanx element|pedal digit phalanx skeletal element uberon owl:Class CHEBI:33579 biolink:NamedThing main group molecular entity A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table. tmpxe7fu0cj_hp_relaxed.owl main group molecular entities|main group compounds chebi_ontology owl:Class Nf72b1c5d15a241ec8b68aed163a790e4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne58c2739ee014de1bd8776b4c31039e6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:42090 biolink:NamedThing L-threitol The L-enantiomer of threitol. tmpxe7fu0cj_hp_relaxed.owl (2S,3S)-butane-1,2,3,4-tetrol|L-threo-tetritol|D-TREITOL|L-threitol 0 C4H10O4 InChI=1S/C4H10O4/c5-1-3(7)4(8)2-6/h3-8H,1-2H2/t3-,4-/m0/s1 UNXHWFMMPAWVPI-IMJSIDKUSA-N 122.11980 122.05791 OC[C@H](O)[C@@H](O)CO Beilstein:4652748|PMID:15639248|PMID:16671745|Beilstein:1719754|PMID:7925706|DrugBank:DB03278|PMID:16901854|Reaxys:1719754|Beilstein:5725953|PDBeChem:DTL|Gmelin:1971390 chebi_ontology owl:Class GO:1901858 biolink:NamedThing regulation of mitochondrial DNA metabolic process Any process that modulates the frequency, rate or extent of mitochondrial DNA metabolic process. tmpxe7fu0cj_hp_relaxed.owl regulation of mitochondrial DNA metabolism|regulation of mtDNA metabolism|regulation of mtDNA metabolic process yaf 2013-02-01T10:05:04Z biological_process owl:Class UBERON:0010028 biolink:NamedThing ventral part of pharyngeal pouch 4 tmpxe7fu0cj_hp_relaxed.owl ventral branchial pouch 4 endoderm|ventral pharyngeal pouch 4|ventral pharyngeal pouch 4 endoderm|ventral 4th branchial pouch uberon owl:Class UBERON:0012239 biolink:NamedThing urinary bladder vasculature Network of tubes that carries blood through the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys[MP]. tmpxe7fu0cj_hp_relaxed.owl bladder vasculature|blood vessels of bladder|set of urinary bladder blood vessels|blood vessel of bladder EMAPA:28679 uberon owl:Class N7ca084b516e74f1793c7d05114b2ebcb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012206 biolink:NamedThing Abnormal sperm motility An anomaly of the mobility of ejaculated sperm. tmpxe7fu0cj_hp_relaxed.owl Abnormal sperm motility UMLS:C0855512 peter 2013-03-12T12:23:21Z human_phenotype owl:Class N8c8ecc14536544d8b17a89a84100db10 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N517397ee99b049389f4e2bb46c94dc68 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009928 biolink:NamedThing Thick nasal alae Increase in bulk of the ala nasi. tmpxe7fu0cj_hp_relaxed.owl Ala nasi, thick|Thickening of the alae nasi UMLS:C1844809 peter 2009-05-05T06:47:43Z human_phenotype owl:Class Nd3324907b2ee4b76b2a38d10e8aac073 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4517da4c3a414b609b23d038392201bc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004528 biolink:NamedThing Generalized hypotrichosis Reduced or lacking hair growth in a generalized distribution. tmpxe7fu0cj_hp_relaxed.owl Hypotrichosis, generalized|Generalised hypotrichosis|Hypotrichosis, generalised UMLS:C4021653 HP:0004513 human_phenotype owl:Class N199de9b868ec436abc1b0bf698eb1480 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:Q62226 biolink:NamedThing sonic hedgehog protein (mouse) A sonic hedgehog protein that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl Hhg1|HHG-1 (mouse)|Shh|SHH (mouse)|mSHH|Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains (mouse)|ShhNC (mouse) UniProtKB:Q62226 Category=organism-gene. protein owl:Class Nc1c6ea4c1d174c84bc184c5a78981904 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0045652 biolink:NamedThing regulation of megakaryocyte differentiation Any process that modulates the frequency, rate or extent of megakaryocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Nf442bd6e636d4e82a761cc93e04e08ec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012187 biolink:NamedThing Increased erythrocyte protoporphyrin concentration An increased concentration of protoporphyrins in erythrocytes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023007 peter 2013-02-24T09:49:59Z human_phenotype owl:Class Nb24dd444da4e414cabee7b15a61be12d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000067 biolink:NamedThing ciliated epithelial cell An epithelial cell that has a cilia. tmpxe7fu0cj_hp_relaxed.owl FMA:70605 cell owl:Class UBERON:0035350 biolink:NamedThing branch of middle cerebral artery tmpxe7fu0cj_hp_relaxed.owl middle cerebral arterial branch NCIT:C33114|FMA:50081 uberon owl:Class UBERON:0001627 biolink:NamedThing middle cerebral artery The middle cerebral artery (MCA) is one of the three major paired arteries that supplies blood to the cerebrum. The MCA arises from the internal carotid and continues into the lateral sulcus where it then branches and projects to many parts of the lateral cerebral cortex. It also supplies blood to the anterior temporal lobes and the insular cortices. The left and right MCAs rise from trifurcations of the internal carotid arteries and thus are connected to the anterior cerebral arteries and the posterior communicating arteries, which connect to the posterior cerebral arteries. The MCAs are not considered a part of the Circle of Willis. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl arteria cerebri media|Sylvian artery UMLS:C0149566|FMA:50079|GAID:487|EHDAA2:0001179|EMAPA:18239|EHDAA:5298|NCIT:C12830|BTO:0005206|OpenCyc:Mx4rvh3qQ5wpEbGdrcN5Y29ycA|MA:0001935|MESH:D020768 https://upload.wikimedia.org/wikipedia/commons/2/2e/Circle_of_Willis_en.svg uberon owl:Class N9a94960a3a01451fbdc3a67ee574ee22 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003261 biolink:NamedThing thyroid primordium endoderm An endoderm that is part of a thyroid primordium. tmpxe7fu0cj_hp_relaxed.owl endoderm of thyroid primordium EMAPA:25357|EHDAA:956|RETIRED_EHDAA2:0002035|VHOG:0001089 UBERON:0005235 uberon owl:Class CHEBI:70979 biolink:NamedThing N-isobutyrylglycine An N-acylglycine in which the acyl group is specified as isobutryl. tmpxe7fu0cj_hp_relaxed.owl [(2-methylpropanoyl)amino]acetic acid|N-(2-methylpropanoyl)glycine|isobutanoylglycine|isobutyrylglycine|N-isobutanoylglycine 0 C6H11NO3 InChI=1S/C6H11NO3/c1-4(2)6(10)7-3-5(8)9/h4H,3H2,1-2H3,(H,7,10)(H,8,9) DCICDMMXFIELDF-UHFFFAOYSA-N 145.15640 145.07389 CC(C)C(=O)NCC(O)=O PMID:20836999|PMID:17712735|Reaxys:1762789|PMID:23062437|PMID:14723814|HMDB:HMDB0000730|PMID:8548022|PMID:22770225|PMID:20528888|PMID:7408214|PMID:7360517 chebi_ontology owl:Class CHEBI:84087 biolink:NamedThing human urinary metabolite Any metabolite (endogenous or exogenous) found in human urine samples. tmpxe7fu0cj_hp_relaxed.owl human urinary metabolites chebi_ontology owl:Class HP:0008757 biolink:NamedThing Unilateral vocal cord paralysis A loss of the ability to move the vocal fold on one side. tmpxe7fu0cj_hp_relaxed.owl Unilateral paralysis of the vocal cord UMLS:C0751575|MSH:D014826 human_phenotype owl:Class N32aa615a05274f6fb10bdb03c531adfc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013760 biolink:NamedThing external cervical os Opening of uterine cervix into the vagina. tmpxe7fu0cj_hp_relaxed.owl external os|external os of uterus|ostium of uterus|ostium uteri UMLS:C1512165|NCIT:C32491|FMA:76836 uberon owl:Class The external orifice of the uterus (or ostium of uterus, or external os) is a small, depressed, somewhat circular aperture on the rounded extremity of the vaginal portion of the cervix. Through this aperture, the cervical cavity communicates with that of the vagina. The external orifice is bounded by two lips, an anterior and a posterior. The anterior is shorter and thicker, though it projects lower than the posterior because of the slope of the cervix. Normally, both lips are in contact with the posterior vaginal wall. Prior to pregnancy, the external orifice has a rounded shape when viewed through the vaginal canal (as through a speculum). Following parturition, the orifice takes on an appearance more like a transverse slit or is 'H-shaped'[Wikipedia:External_orifice_of_the_uterus]. Nd1f49b5b31d245b5be0d55ef5337815a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002283 biolink:NamedThing Global brain atrophy Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. tmpxe7fu0cj_hp_relaxed.owl Generalized brain atrophy|Generalized cerebral atrophy|Generalised cerebral atrophy|Generalized brain degeneration|Generalised brain atrophy|Generalised brain degeneration|Diffuse brain atrophy UMLS:C0241816 Global brain atrophy can be visualized and quantified by magnetic resonance imaging. HP:0002369|HP:0002462 owl:Class Na4f4e806d821420b8b1cc8db4c389a20 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010336 biolink:NamedThing mandibular process mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a mandibular process mesenchyme. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004603 uberon owl:Class N3659c297b0724c6fbff89e7fccbb5918 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010411 biolink:NamedThing Triangular shaped middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Triangular shaped middle bone of 2nd toe UMLS:C4023844 doelkens 2009-07-16T12:43:52Z human_phenotype owl:Class Ndeabfe5ce5b540b49a2d0951a2d3ed42 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011835 biolink:NamedThing Absent scaphoid Congenital absence of the scaphoid.. tmpxe7fu0cj_hp_relaxed.owl Missing scaphoid bone|Absent scaphoid bone UMLS:C1847189 peter 2012-05-05T07:37:35Z human_phenotype owl:Class N5530daf496734f03b63b07a099bd32ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8ca77080f1f744b0aebc45925640f934 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nceee20b60cf744af988a21b5d021eb44 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0048630 biolink:NamedThing skeletal muscle tissue growth The increase in size or mass of a skeletal muscle. This may be due to a change in the fiber number or size. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0000941 biolink:NamedThing Short diaphyses tmpxe7fu0cj_hp_relaxed.owl Short shaft of long bone UMLS:C4025815 human_phenotype owl:Class Nf3d5a74031604bbdbf9d95bc67ce9f78 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010308 biolink:NamedThing Asternia The congenital absence of the sternum. tmpxe7fu0cj_hp_relaxed.owl Aplasia of the sternum|Breast bone aplasia UMLS:C4023912 peter 2009-07-12T02:21:46Z owl:Class Nd09ba283d4214a8db751baf25b3a9751 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410209 biolink:NamedThing Folate deficiency in CSF A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Folate deficiency in cerebrospinal fluid 2018-09-12 00:12:26+00:00 Cerebral folate deficiency is usually measured as low levels of folate in the CSF, in the presence of normal folate metabolism outside the nervous system. owl:Class N70485ce9595c41de85858ccb07eda8b1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035480 biolink:NamedThing surface of prostate The external portion of the prostate including the anterior, inferolateral, lateral and posterior surfaces. tmpxe7fu0cj_hp_relaxed.owl prostatic surface|surface of prostate gland NCIT:C13091|FMA:19590 uberon owl:Class UBERON:0002420 biolink:NamedThing basal ganglion An individual member of a collection of basal ganglia. Basal ganglia are subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum[NIF,modified]. tmpxe7fu0cj_hp_relaxed.owl basal ganglion of telencephalon|basal ganglia|basal nucleus|nuclei basales FMA:62514|BTO:0000235|DHBA:10332|EFO:0000904|CALOHA:TS-1149 http://upload.wikimedia.org/wikipedia/commons/1/1b/Basal_Ganglia_and_Related_Structures.svg it is necessary to introduce two classes, one representing an individual basal ganglion, another representing the aggregate structure, in order to have consistent classification amongst AOs (e.g. in MA the aygdala is part of the BG, in FMA and BTO it is a subclass). Apart from achieving this consistency, the value of having two distinct classes is questionable, since the BG-plural is trivially the set of all BGs-singular. it would be better for all AOs to decide on one single way of doing this. Do not merge until this is done. uberon owl:Class HP:0003353 biolink:NamedThing Propionyl-CoA carboxylase deficiency An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:124718009|SNOMEDCT_US:69080001|UMLS:C0268579|MSH:D056693 Propionyl-CoA is an important intermediate in the metabolism of several amino acids and is also produced by oxidation of odd-numbered fatty acids. human_phenotype owl:Class N852edb1031154052bc8cd625012f46a1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1990104 biolink:NamedThing DNA bending complex A protein-DNA complex that contains DNA in combination with a protein which binds to and bends DNA. Often plays a role in DNA compaction. tmpxe7fu0cj_hp_relaxed.owl histone-like DNA binding complex bhm 2013-05-20T09:29:06Z cellular_component owl:Class GO:0008301 biolink:NamedThing DNA binding, bending The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. tmpxe7fu0cj_hp_relaxed.owl DNA bending involving DNA binding|DNA bending activity molecular_function owl:Class HP:0005623 biolink:NamedThing Absent ossification of calvaria Absent ossification of the calvaria (vault of the skull). tmpxe7fu0cj_hp_relaxed.owl Absent bone maturation of skullcap|Absent ossification of skull vault UMLS:C4021629 human_phenotype owl:Class N848a95f69de847bbaf5a019dbbab7d8f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009646 biolink:NamedThing lumbar sympathetic nerve trunk A sympathetic nerve trunk that is part of a lower back. tmpxe7fu0cj_hp_relaxed.owl lumbar part of sympathetic trunk|lumbar sympathetic trunk|lumbar sympathetic chain MA:0001163|NCIT:C52828|FMA:6263|EMAPA:37655|UMLS:C1708762 uberon owl:Class N3da5cbd29be94b04ba48a9e00c4c2fe8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:5006048 biolink:NamedThing digit 1 plus metapodial segment A subdivision of the autopod consisting of digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl digit 1 ( phalanges plus metapodial) plus soft tissue|digit 1 ray|digit I plus metapodial segment|digit 1|digit 1 digitopodial subdivision this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class GO:0006534 biolink:NamedThing cysteine metabolic process The chemical reactions and pathways involving cysteine, 2-amino-3-mercaptopropanoic acid. tmpxe7fu0cj_hp_relaxed.owl cysteine metabolism Wikipedia:Cysteine_metabolism biological_process owl:Class HP:0030370 biolink:NamedThing Abnormal proportion of naive B cells A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072909 owl:Class Nb78c12d07ff444639e23fc276f8bf56f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000460 biolink:NamedThing Narrow nose Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. tmpxe7fu0cj_hp_relaxed.owl Thin nose|Decreased nasal width|Decreased nasal breadth|Narrow nose UMLS:C0426422|SNOMEDCT_US:249322008 Note: a small nose has both decreased height and a decreased width. These should be coded separately. human_phenotype owl:Class N51844d3e693e4a9c811195528b2ce198 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007299 biolink:NamedThing choroid plexus of tectal ventricle A choroid plexus that is part of a cerebral aqueduct. tmpxe7fu0cj_hp_relaxed.owl choroid plexus tectal ventricles|choroid plexus tectal ventricle ZFA:0001445|TAO:0001445 uberon owl:Class UBERON:0002289 biolink:NamedThing midbrain cerebral aqueduct Part of ventricular system of brain consisting of a narrow channel in the midbrain connecting the third and fourth ventricles. (Maryann Martone). tmpxe7fu0cj_hp_relaxed.owl cerebral aqueduct of Sylvius|midbrain cerebral aqueduct|medial tectal ventricle|aqueduct of Sylvius|midbrain ventricle|aqueduct of midbrain|cerebral aqueduct|mesencephalic ventricle|aqueduct|cerebral aqueduct proper|tectal ventricle|cerebral aquaduct|aqueductus mesencephali|mesencephalic vesicle|mesencephalic duct|Sylvian aqueduct|aqueduct (Sylvius) GAID:583|BAMS:AQ|NCIT:C32135|HBA:265505702|DHBA:12369|TAO:0000159|EFO:0003501|BIRNLEX:1261|VHOG:0000832|BM:MB-AQ|UMLS:C0007769|MESH:A08.186.211.132.659.822.187|EHDAA2:0001163|FMA:78467|EV:0100309|DMBA:126651722|MBA:140|EHDAA:3696|ncithesaurus:Cerebral_Aqueduct|BAMS:Aq|ZFA:0000159|DHBA:10651|EMAPA:17795|MA:0000208 http://upload.wikimedia.org/wikipedia/commons/d/da/Cn3nucleus.png UBERON:0005684 uberon owl:Class The early development of most vertebrate brains is similar (...). The zebrafish neural tube follows the same basic differentiation pattern as the mammalian neural tube (reference 1); The brain develops from three embryonic enlargements of the neural tube, which later differentiate into five regions. A forebrain differentiates into telencephalon and diencephalon. The midbrain, or mesencephalon, remains undivided. The hindbrain divides into the metencephalon and myelencephalon. Cavities within the brain enlarge to form a series of interconnected ventricles (reference 2).[well established][VHOG] Two distinct classes in ncit. We classify this as a brain ventricle even though it is not classifically regarded as one (3rd = diencephalon, 4th = hindbrains) UBERON:0016514 biolink:NamedThing cavity of left ventricle Luminal space of the left ventricle of the heart. tmpxe7fu0cj_hp_relaxed.owl left ventricular cavity FMA:9466|EMAPA:26038 uberon owl:Class N76759b795b1240c59e77cc0bef99747f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013171 biolink:NamedThing cricothyroid ligament This attaches the caudal border of the thyroid cartilage to the ventral arch of the cricoid cartilage. Its sheetlike ventral portion is sometimes referred to as the cricothyroid membrane. Being elastic, it 'balances' movement at the hinge-like cricothyroid joint and determines the resting position of the larynx when the muscles are relaxed[MURDOCH]. The cricothyroid ligament is the larger part of the laryngeal membrane, continuing inferiorly as a median or anterior part and twin lateral ligaments. The median cricothyroid ligament is a flat band of white tissue joining the cricoid and thyroid cartilages, while the lateral cricothyroid ligament is also known as the cricothyroid membrane (also called conus elasticus). tmpxe7fu0cj_hp_relaxed.owl crico-thyroid ligament|ligamentum cricothyreoideum NCIT:C32403|UMLS:C0225542|FMA:55233 uberon owl:Class GO:0055085 biolink:NamedThing transmembrane transport The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. tmpxe7fu0cj_hp_relaxed.owl membrane transport|ATP hydrolysis coupled transmembrane transport Transmembrane transport is the transport of a solute across a lipid bilayer. Note that transport through the nuclear pore complex is not transmembrane because the nuclear membrane is a double membrane and is not traversed. For transport through the nuclear pore, consider instead the term 'nucleocytoplasmic transport ; GO:0006913' and its children. Note also that this term is not intended for use in annotating lateral movement within membranes. tb 2015-10-21T13:22:47Z GO:0090662 biological_process owl:Class Nd55b137a2b734155a76473f80be38358 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003854 biolink:NamedThing spinal cord neural plate A neural plate that develops_from a future spinal cord. tmpxe7fu0cj_hp_relaxed.owl neural plate of spinal cord TAO:0007021|ZFA:0007021|VHOG:0000439|FMA:312957 uberon owl:Class Neural plate that is part of the spinal cord. [Bgee_curator][VHOG] (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...)[well established][VHOG] HP:0003223 biolink:NamedThing Decreased methylcobalamin Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12. tmpxe7fu0cj_hp_relaxed.owl Methylcobalamin deficiency UMLS:C4021736 HP:0008287 human_phenotype owl:Class N8d3094122eef4e43b3ab1e92bc8ed8e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8452bc7e8b304a639e9faa40e63f3032 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005895 biolink:NamedThing Radial deviation of thumb terminal phalanx tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025111 human_phenotype owl:Class Ne46deab4b56948f2853ff86b79af0042 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0036484 biolink:NamedThing trunk neural crest cell migration The characteristic movement of trunk neural crest cells from the neural tube to other locations in the vertebrate embryo. tmpxe7fu0cj_hp_relaxed.owl trunk NCC migration bf 2014-08-26T15:27:44Z biological_process owl:Class CL:0000011 biolink:NamedThing migratory trunk neural crest cell Cell that is part of the migratory trunk neural crest population. Migratory trunk neural crest cells develop from premigratory trunk neural crest cells and have undergone epithelial to mesenchymal transition and delamination. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class UBERON:0008193 biolink:NamedThing pneumatized bone A bone that is hollow or contains many air cells, such as the mastoid process of the temporal bone[TMD]. tmpxe7fu0cj_hp_relaxed.owl os pneumaticum|hollow bone|pneumatic bone FMA:7478|Wikipedia:Skeletal_pneumaticity|galen:PneumaticBone|SCTID:333008005 subclasses of this should be checked for taxonomic consistency uberon owl:Class Skeletal pneumaticity is the presence of air spaces within bones. Skeletal pneumaticity exists only in synapsids and archosaurs. It is generally produced during development by excavation of bone by pneumatic diverticula (air sacs) from an air-filled space such as the lungs or nasal cavity. Pneumatization is highly variable between individuals, and bones not normally pneumatized can become pneumatized in pathological development. Pneumatization occurs in the skulls of mammals, crocodilians and birds among extant groups, as well as extinct archosaurs including the dinosaurs and pterosaurs. Pneumatic spaces include the paranasal sinuses and some of the mastoid cells[WP]. [Wikipedia:Skeletal_pneumaticity] UBERON:0010528 biolink:NamedThing pneumatic cavity of bone tmpxe7fu0cj_hp_relaxed.owl air space of bone FMA:24028 uberon owl:Class UBERON:0014388 biolink:NamedThing kidney collecting duct epithelium The simple cuboidal epithelium lining the lumen of kidney collecting ducts. tmpxe7fu0cj_hp_relaxed.owl collecting duct of renal tubule epithelium|epithelium of renal collecting tubule|epithelium of collecting duct of renal tubule EMAPA:37885 uberon owl:Class In mouse, the mature and differentiated CD epithelium comprises two unique cells types with principal cells responsible for vasopressin-regulated water reabsorption, and intercalated cells regulating acid-base homeostasis; injury to the epithelium is believed to cause epithelial cells to acquire mesenchymal characteristics via epithelial-mesenchymal transition (EMT), a process through which tubular epithelial cells may transform into interstitial fibroblasts and promote renal fibrosis CHEBI:32868 biolink:NamedThing D-prolinium An optically active form of prolinium having D-configuration. tmpxe7fu0cj_hp_relaxed.owl D-prolinium|D-proline cation|(2R)-2-carboxypyrrolidinium +1 C5H10NO2 InChI=1S/C5H9NO2/c7-5(8)4-2-1-3-6-4/h4,6H,1-3H2,(H,7,8)/p+1/t4-/m1/s1 ONIBWKKTOPOVIA-SCSAIBSYSA-O 116.13840 116.07060 OC(=O)[C@H]1CCC[NH2+]1 Gmelin:363492 chebi_ontology owl:Class UBERON:0003529 biolink:NamedThing respiratory system lymphatic vessel endothelium An lymphatic vessel endothelium that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lymphatic vessel endothelium of apparatus respiratorius|apparatus respiratorius endothelium of lymph vessel|apparatus respiratorius lymph vessel endothelium|respiratory system endothelium of lymph vessel|respiratory system lymphatic vessel endothelium|lymph vessel endothelium of apparatus respiratorius|lymph vessel endothelium of respiratory system|lymphatic vessel endothelium of respiratory system|endothelium of lymph vessel of respiratory system|apparatus respiratorius lymphatic vessel endothelium|respiratory system lymph vessel endothelium|endothelium of lymph vessel of apparatus respiratorius MA:0001825|EMAPA:37581 uberon owl:Class N739e512328e146ec90e4d012ad48a117 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012524 biolink:NamedThing Abnormal platelet shape A deviation from the normal discoid platelet shape. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022866 peter 2013-12-15T08:55:03Z human_phenotype owl:Class N9f19ffc81a1a41499ed2b807df4ff0fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040042 biolink:NamedThing Aplasia of the eccrine sweat glands tmpxe7fu0cj_hp_relaxed.owl Absent eccrine sweat glands UMLS:C4022475 HPO:skoehler owl:Class Nd16a31ffc37d4ec8b5169dc61de84213 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007914 biolink:NamedThing bone of craniocervical region A bone that is part of a craniocervical region. tmpxe7fu0cj_hp_relaxed.owl cranial bone|head or neck bone MA:0000569|EMAPA:37245 uberon owl:Class UBERON:0010933 biolink:NamedThing orbicularis oris muscle The orbicularis oris is a superficial facial muscle with fibers that encircle the opening of the oral cavity that attaches to the maxilla, mandible, skin and modiolus, and that participates in oral/pharyngeal behaviors, and is innervated by the facial nerve (CN VII). tmpxe7fu0cj_hp_relaxed.owl incisivii labii inferioris|orbicularis oris|incisivii labii superioris|musculus orbicularis oris|nasolabialis muscle FMA:46841|MFMO:0000058 Orbicularis:oris.jpg uberon https://github.com/obophenotype/uberon/issues/473 owl:Class The orbicularis oris is a superficial facial muscle that attaches to the skin and modiolus, and that participates in oral/pharyngeal behaviors, and is innervated by the facial nerve .[FEED] UBERON:0034933 biolink:NamedThing layer of smooth muscle tissue Any organ component layer that consists of smooth muscle tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class N865cf4959f9b49d1a8a054afecd8b209 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0034505 biolink:NamedThing tooth mineralization The process in which calcium salts are deposited into calcareous tooth structures such as dental enamel, dentin and cementum. tmpxe7fu0cj_hp_relaxed.owl tooth calcification biological_process owl:Class N237c1b2248d143e885c372244fe2adf3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7871c36484794a9f90b5b0a6b1bc0811 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfee9a31b096a4bd281368b6b7ae2fd29 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003168 biolink:NamedThing Purkinje myocyte differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a Purkinje myocyte (also known as cardiac Purkinje fiber cell). These cells are specialized cardiomyocytes that receive signals from the bundle of His and innervate the ventricular cardiac muscle. tmpxe7fu0cj_hp_relaxed.owl cardiac Purkinje fiber cell differentiation dph 2009-10-01T02:49:54Z biological_process owl:Class UBERON:0036343 biolink:NamedThing wall of gallbladder tmpxe7fu0cj_hp_relaxed.owl gallbladder wall FMA:14657 uberon owl:Class UBERON:0001152 biolink:NamedThing cystic duct The tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct. tmpxe7fu0cj_hp_relaxed.owl ductus cysticus GAID:290|NCIT:C32421|MESH:A03.159.183.419|MA:0000355|OpenCyc:Mx4rveBeC5wpEbGdrcN5Y29ycA|galen:CysticDuct|UMLS:C0010672|TAO:0005166|EMAPA:16841|FMA:14539|VHOG:0000213|EHDAA2:0000333|ZFA:0005166|EHDAA:3045 http://upload.wikimedia.org/wikipedia/commons/5/5d/Digestive_system_showing_bile_duct.png|http://upload.wikimedia.org/wikipedia/commons/4/48/Illu_liver_gallbladder.jpg uberon owl:Class The duct of the gallbladder which joins the common hepatic duct, thus forming the common biliary duct. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]|Duct that connects the gall bladder and the common bile duct.[TAO] GO:0110148 biolink:NamedThing biomineralization The process where mineral crystals are formed and deposited in an organized fashion in a matrix (either cellular or extracellular) by living organisms. This gives rise to inorganic compound-based structures such as skeleton, teeth, ivory, shells, cuticle, and corals as well as bacterial biomineralization products. tmpxe7fu0cj_hp_relaxed.owl mineralisation|biomineralisation|biomineral formation|mineralization Wikipedia:Biomineralization kmv 2019-06-10T17:55:28Z biological_process owl:Class UBERON:0005217 biolink:NamedThing midbrain subarachnoid space A subarachnoid space that is part of a midbrain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl subarachnoid space mesencephalon|subarachnoid space midbrain VHOG:0001304|EMAPA:19055 uberon owl:Class Subarachnoid space that is part of the midbrain. [Bgee_curator][VHOG] UBERON:0010065 biolink:NamedThing auditory meatus epithelium tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004114 uberon owl:Class HP:0007627 biolink:NamedThing Mandibular condyle aplasia tmpxe7fu0cj_hp_relaxed.owl Absence of the condylar head of mandible|Failure of development of the condylar process of mandible|Underdevelopment of condylar process of mandible|Absence of the condylar process of mandible|Underdevelopment of condylar neck of mandible|Agenesis of condylar process of mandible|Agenesis of condylar neck of mandible|Agenesis of condylar head of mandible|Absence of the condylar neck of mandible|Underdevelopment of condylar head of mandible|Failure of development of condylar neck of mandible|Failure of development of condylar head of mandible UMLS:C4280437|UMLS:C4280433|UMLS:C4280431|UMLS:C4280436|SNOMEDCT_US:235119009|UMLS:C4280434|UMLS:C0399570|UMLS:C4280435|UMLS:C4280432|UMLS:C4280429|UMLS:C4280430 human_phenotype owl:Class Nc7330743f5604c8bad83da2a03b7d4cc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010738 biolink:NamedThing distal tarsal bone 5 Endochondral tarsal bone articulating with centralia and metatarsal 5. tmpxe7fu0cj_hp_relaxed.owl cuboideum|distal tarsal 5|tarsal 5 AAO:0000933|VSAO:0005056 We need to restrict the logical definition such that it is *only* connecting to metatarsal 5 uberon owl:Class Small element that articulates anteriorly with metatarsal V. It may be absent in some taxa.[AAO] HP:0000888 biolink:NamedThing Horizontal ribs A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. tmpxe7fu0cj_hp_relaxed.owl Horizontal ribs UMLS:C3806510 human_phenotype owl:Class N28ff798a046a45449c59af10ec1a6441 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009793 biolink:NamedThing Presacral teratoma A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV). tmpxe7fu0cj_hp_relaxed.owl Altman type IV sacrococcygeal teratoma|Retrorectal teratoma UMLS:C1867782 Sacrococcygeal teratomas are thought to originate from multipotential cells in Henson's node, which migrates caudally to rest in the coccyx. peter 2009-02-03T05:23:57Z human_phenotype owl:Class Nf8dc583efe8c47b58f935aa28415b099 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0061484 biolink:NamedThing hematopoietic stem cell homeostasis Any biological process involved in the maintenance of the steady-state number of hematopoietic stem cells within a population of cells. tmpxe7fu0cj_hp_relaxed.owl dph 2012-12-04T09:41:02Z biological_process owl:Class N58b67cda7f484d73872a4c9323358254 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002430 biolink:NamedThing CD4-intermediate, CD8-positive double-positive thymocyte A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD4 co-receptor. tmpxe7fu0cj_hp_relaxed.owl T.4int8+.Th tmeehan 2010-10-21T02:29:19Z cell owl:Class CL:0002429 biolink:NamedThing CD69-positive double-positive thymocyte A double-positive thymocyte that is CD69-positive and has begun positive selection. tmpxe7fu0cj_hp_relaxed.owl T.DP69+.Th tmeehan 2010-10-21T02:11:52Z cell owl:Class UBERON:0010090 biolink:NamedThing future falx cerebri A developing anatomical structure that has the potential to develop into a falx cerebri. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000608 uberon owl:Class Ncbdd8da6238c4169a7dd141c40881919 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001706 biolink:NamedThing nasal septum The nasal septum separates the left and right airways in the nose, dividing the two nostrils. It is depressed by the Depressor septi nasi muscle. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl septum mobile nasi|septum of the nose|septum nasi|septal cartilage AAO:0000559|EMAPA:17608|MA:0000285|MESH:A02.165.639|EHDAA:6809|EHDAA2:0004104|OpenCyc:Mx4rv7e-k5wpEbGdrcN5Y29ycA|NCIT:C33160|GAID:115|UMLS:C0027432|AAO:0010135|VHOG:0000017|EHDAA2:0001234|FMA:54375 http://upload.wikimedia.org/wikipedia/commons/6/65/Gray854.png We follow AAO in making this part of the nasal skeleton uberon owl:Class Medial vertical wall between nasal capsules.[AAO]|Medial, vertical plate that separates the nasal capsules.[AAO]|A median dividing wall, sagittally directed, which divides the nasal cavity into the right and the left nasal fossae. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] Whatever the common ancestor of the lamprey and gnathostomes may have looked like, it most likely possessed a neural-crest-derived premandibular ectomesenchyme closely associated with the NHP. Invention of the jaw subsequently required a space for the nasal septum and maxillary process to develop, which might have been provided by subdivision of the NHP into the nasal placode and the hypophysis (diplorhiny, the state of bilaterally separated nasal openings, would also have been a prerequisite for this).[well established][VHOG] UBERON:0001573 biolink:NamedThing styloglossus The Styloglossus, the shortest and smallest of the three styloid muscles, arises from the anterior and lateral surfaces of the styloid process, near its apex, and from the stylomandibular ligament. Passing downward and forward between the internal and external carotid arteries, it divides upon the side of the tongue near its dorsal surface, blending with the fibers of the Longitudinalis inferior in front of the Hyoglossus; the other, oblique, overlaps the Hyoglossus and decussates with its fibers. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl syloglossus muscle|musculus styloglossus EMAPA:18279|NCIT:C53071|MA:0002387|UMLS:C0224195|FMA:46692 http://upload.wikimedia.org/wikipedia/commons/1/16/Styloglossus.png uberon owl:Class Styloglossus is a muscle that attaches to the tongue and stylohyal and is innervated by Cranial Nerve XII.[FEED] UBERON:0036212 biolink:NamedThing intertragic incisure A surface structure that is the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by theantitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. tmpxe7fu0cj_hp_relaxed.owl intertragic notch|auricular notch|intertragic incisure|incisura anterior auris|incisura|incisura intertragica|intertragal incisure|sulcus auriculae anterior|anterior auricular groove FMA:61175 Measurement notes: The length is measured from the upper to the lower border (between tragus and antitragus) uberon owl:Class Nb2ecd148593b467fa9ea47a35a980ab9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:41402 biolink:NamedThing carboxymethyl group tmpxe7fu0cj_hp_relaxed.owl aspartic acid side-chain|CARBOXYMETHYL GROUP|-CH2-COOH|carboxymethyl 0 C2H3O2 59.04402 59.01330 O=C(C*)O PDBeChem:ACY CHEBI:23029|CHEBI:41396 chebi_ontology owl:Class HP:0004606 biolink:NamedThing Unossified vertebral bodies A lack of ossification of the vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1860202 HP:0008427 human_phenotype owl:Class Nfa0f8f4d91b34673af5a3a0e946ed926 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N003d4ba1c0454c408d48219a6a8f3c9e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008784 biolink:NamedThing lower limb segment A limb segment that is part of a hindlimb. tmpxe7fu0cj_hp_relaxed.owl segment of free lower limb|free lower limb segment|free lower limb subdivision|subdivision of free lower limb FMA:24877 uberon owl:Class UBERON:0002356 biolink:NamedThing perineum Subdivision of trunk proper, which is demarcated from the pelvis by the inferior surface of the pelvic diaphragm and from the lower limbs by the perineofemoral lines; together with the thorax, abdomen, and pelvis, it constitutes the trunk[FMA]. tmpxe7fu0cj_hp_relaxed.owl perineal region|regio perinealis MA:0002466|GAID:90|EV:0100013|EHDAA2:0004015|OpenCyc:Mx4rvcHSh5wpEbGdrcN5Y29ycA|EMAPA:36628|EFO:0004141|galen:Perineum|FMA:9579|UMLS:C0031066|NCIT:C33301|MESH:D010502 http://upload.wikimedia.org/wikipedia/commons/e/ef/Gray406.png uberon owl:Class perianal FMA has class anal part of perineum, which may be the same as what EHDAA2 calls perineum GO:0061195 biolink:NamedThing taste bud formation The developmental process pertaining to the initial formation of the taste bud from unspecified parts. The taste bud is a specialized area of the tongue that contains taste receptors. tmpxe7fu0cj_hp_relaxed.owl dph 2010-07-27T12:22:26Z biological_process owl:Class N6fa1c143dc6c43a4be3bf8682db6a4a3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0023061 biolink:NamedThing signal release The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. tmpxe7fu0cj_hp_relaxed.owl signal secretion 2010-02-16T09:30:50Z biological_process owl:Class GO:0021751 biolink:NamedThing salivary nucleus development The process whose specific outcome is the progression of a salivary nucleus over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0021548 biolink:NamedThing pons development The process whose specific outcome is the progression of the pons over time, from its formation to the mature structure. The pons lies above the medulla and next to the cerebellum. The pons conveys information about movement from the cerebral hemisphere to the cerebellum. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001582 biolink:NamedThing buccinator muscle The buccinator is a muscle that is attached to the mandible, skin, pterygomandibular raphe and maxilla, and is innervated by Cranial Nerve VII and participates in oropharyngeal behavior. tmpxe7fu0cj_hp_relaxed.owl musculus buccinator|buccinator|trumpeters muscle|buccinatorius NCIT:C53150|UMLS:C0224121|EMAPA:37453|MFMO:0000002|FMA:46834|MA:0002272 http://upload.wikimedia.org/wikipedia/commons/d/df/Buccinator.jpg logical definition provided by FEED uberon owl:Class UBERON:0000383 biolink:NamedThing musculature of body The subdivision of the musculoskeletal system that consists of all the muscles of the body[VSAO, modified]. tmpxe7fu0cj_hp_relaxed.owl musculature system|set of all muscles|muscle system of body|muscular system|muscle system|muskelsystem|vertebrate muscular system|set of muscles of body MA:0002888|XAO:0004042|BILA:0000088|AAO:0000307|BTO:0001485|VSAO:0000033|EMAPA:35578|FMA:72954|MIAA:0000025|EFO:0000801|MAT:0000025|BTO:0001369|FBbt:00005069 consider whether this should be restricted to skeletal musculature. See https://github.com/obophenotype/uberon/issues/77 uberon owl:Class Anatomical system that consists of the muscles of the body.[VSAO] we place the MA term musculature here, rather than under uberon:musculature, as this seems more appropriate given the structure of MA N770749d5804b42e6be713ffa06a4723c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000834 biolink:NamedThing neutrophil progenitor cell A progenitor cell of the neutrophil lineage. tmpxe7fu0cj_hp_relaxed.owl neutrophil stem cell cell owl:Class GO:0021584 biolink:NamedThing pons formation The process that gives rise to the pons. This process pertains to the initial formation of a structure from unspecified parts. The pons lies above the medulla and next to the cerebellum. The pons conveys information about movement from the cerebral hemisphere to the cerebellum. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0008805 biolink:NamedThing gingival groove The gingival sulcus is an area of potential space between a tooth and the surrounding gingival tissue and is lined by sulcular epithelium. The depth of the sulcus (Latin for groove) is bounded by two entities: apically by the gingival fibers of the connective tissue attachment and coronally by the free gingival margin. tmpxe7fu0cj_hp_relaxed.owl sulcus gingivalis|gingival sulcus|tooth-gingiva interface FMA:74580|NCIT:C114645 Gingival:sulcus.PNG uberon owl:Class N199bf4fd5dff432096793dc07cf901aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003299 biolink:NamedThing roof plate of midbrain The mesencephalic roof plate, including the caudal and rostral part of the midbrain roof. tmpxe7fu0cj_hp_relaxed.owl midbrain roof plate|midbrain roof|roof plate mesencephalon|roof plate midbrain|roof plate midbrain region|roofplate of midbrain|midbrain roofplate|roofplate midbrain EHDAA2:0001177|EHDAA:3712|DHBA:12320|ZFA:0000355|RETIRED_EHDAA2:0001111|VHOG:0000772|EMAPA:16981|TAO:0000355 uberon owl:Class Roof plate that is part of the midbrain. [Bgee_curator][VHOG] UBERON:0010056 biolink:NamedThing future tongue A compound organ that has the potential to develop into a tongue. tmpxe7fu0cj_hp_relaxed.owl EHDAA:2951|EHDAA2:0000696 uberon owl:Class UBERON:0010321 biolink:NamedThing skeletal element of eye region A skeletal element that is part of a orbital region. tmpxe7fu0cj_hp_relaxed.owl ocular skeleton|eye skeleton|skeletal element of orbital region uberon owl:Class HP:0008807 biolink:NamedThing Acetabular dysplasia A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain. tmpxe7fu0cj_hp_relaxed.owl Dysplastic acetabulae MSH:D006617|UMLS:C1328407 Acetabular dysplasia can lead to hip pain and early-onset hip osteoarthritis. HP:0008799 owl:Class N18fcd660961d4afe9b3852f3f32e487d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000022 biolink:NamedThing Abnormality of male internal genitalia An abnormality of the male internal genitalia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025899 The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. owl:Class Nae8211a0cf8d4ed98a98e981ff161c2d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:2000549 biolink:NamedThing positive regulation of dendritic cell dendrite assembly Any process that activates or increases the frequency, rate or extent of dendritic cell dendrite assembly. tmpxe7fu0cj_hp_relaxed.owl positive regulation of dendritic extension ebc 2011-04-03T07:22:06Z biological_process owl:Class GO:0060536 biolink:NamedThing cartilage morphogenesis The process in which the anatomical structures of cartilage are generated and organized. tmpxe7fu0cj_hp_relaxed.owl dph 2009-04-10T09:13:27Z biological_process owl:Class GO:0031256 biolink:NamedThing leading edge membrane The portion of the plasma membrane surrounding the leading edge of a motile cell. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0001457 biolink:NamedThing Abnormality of the musculature of the upper arm tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025775 peter 2008-04-07T10:42:00Z human_phenotype owl:Class Nb840854e210a42558861ff179ed110c7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1904795 biolink:NamedThing positive regulation of euchromatin binding Any process that activates or increases the frequency, rate or extent of euchromatin binding. tmpxe7fu0cj_hp_relaxed.owl up-regulation of euchromatin binding|up regulation of euchromatin binding|upregulation of euchromatin binding|activation of euchromatin binding nc 2015-11-09T11:43:19Z biological_process owl:Class GO:1990188 biolink:NamedThing euchromatin binding Binding to euchromatin, a dispersed and relatively uncompacted form of chromatin. tmpxe7fu0cj_hp_relaxed.owl tb 2013-09-11T19:18:38Z molecular_function owl:Class UBERON:0010384 biolink:NamedThing lumen of laryngopharynx An anatomical space that is enclosed by a hypopharynx. tmpxe7fu0cj_hp_relaxed.owl laryngopharynx lumen FMA:55096 uberon owl:Class UBERON:0010362 biolink:NamedThing endoskeleton Skeletal subdivision that undergoes indirect development and includes elements that develop as a replacement or substitution of other elements or tissues. tmpxe7fu0cj_hp_relaxed.owl replacement skeleton VSAO:0000037|XAO:0004026|Wikipedia:Endoskeleton uberon owl:Class An endoskeleton is an internal support structure of an animal, composed of mineralized tissue. Endoskeleton develops within the skin or in the deeper body tissues. The vertebrate is basically an endoskeleton made up of two types of tissues (bone and cartilage). During early embryonic development the endoskeleton is composed of notochord and cartilage. The notochord in most vertebrates is replaced by vertebral column and cartilage is replaced by bone in most adults. In three phyla and one subclass of animals, endoskeletons of various complexity are found: Chordata, Echinodermata, Porifera, and Coleoidea. An endoskeleton may function purely for support (as in the case of sponges), but often serves as an attachment site for muscle and a mechanism for transmitting muscular forces. A true endoskeleton is derived from mesodermal tissue. Such a skeleton is present in echinoderms and chordates. The poriferan 'skeleton' consists of microscopic calcareous or siliceous spicules or a spongin network. The Coleoidae do not have a true endoskeleton in the evolutionary sense; here, a mollusk exoskeleton evolved into several sorts of internal structure, the 'cuttlebone' of cuttlefish being the best-known version. Yet they do have cartilaginous tissue in their body, even if it is not mineralized, especially in the head, where it forms a primitive cranium. The endoskeleton gives shape,support and protection to the body and provides a mean of locomotion.[Wikipedia:Endoskeleton]t UBERON:0016452 biolink:NamedThing upper secondary premolar tooth tmpxe7fu0cj_hp_relaxed.owl permanent upper premolar tooth|upper permanent premolar tooth|secondary upper premolar tooth|maxillary secondary premolar tooth FMA:55716 uberon owl:Class HP:0003177 biolink:NamedThing Squared iliac bones A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. tmpxe7fu0cj_hp_relaxed.owl Square iliac bones|Squaring of iliac bones UMLS:C1838186 human_phenotype owl:Class N62dea766c62742e1b973d22395aa5073 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0033028 biolink:NamedThing myeloid cell apoptotic process Any apoptotic process in a myeloid cell, a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. tmpxe7fu0cj_hp_relaxed.owl myeloid cell apoptosis|apoptosis of myeloid cells biological_process owl:Class HP:0003146 biolink:NamedThing Hypocholesterolemia An decreased concentration of cholesterol in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased circulating cholesterol level UMLS:C0151718|SNOMEDCT_US:61336008 human_phenotype owl:Class Ne237d041fdb146c9a50b4077eb7a3df8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:3000005 biolink:NamedThing Abnormality of masseter muscle An abnormality of a masseter muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073214 vasilevs 2015-02-26T03:43:00Z human_phenotype owl:Class Ndde9be2847014910bb988c09dfad1393 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001689 biolink:NamedThing malleus bone The malleus or hammer is a hammer-shaped small bone or ossicle of the middle ear which connects with the incus and is attached to the inner surface of the eardrum. The word is Latin for hammer. It transmits the sound vibrations from the eardrum to the incus. The malleus is unique to mammals, and evolved from a lower jaw bone in basal amniotes called the articular, which still forms part of the jaw joint in reptiles. Embryologically it is derived from the first pharyngeal arch along with the rest of the bones of mastication, such as the maxilla and mandible. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl anguloarticular - malleus|malleus NCIT:C33051|MA:0001216|UMLS:C0024631|MESH:D008307|VHOG:0000690|EMAPA:18584|GAID:867|FMA:52753 http://upload.wikimedia.org/wikipedia/commons/6/6b/Gray916.png uberon owl:Class According to this theory (Reichert-Gaupp theory), the mammalian stapes is derived from the reptilian columella, the incus from the quadrate and the malleus from the articular (...).[well established][VHOG] N952b979facba4c2fab69abc902afe4cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:P00797 biolink:NamedThing renin (human) A renin that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl REN|angiotensinogenase (human)|hREN UniProtKB:P00797 Category=organism-gene. protein owl:Class GO:0061185 biolink:NamedThing negative regulation of dermatome development Any process that decreases the rate, frequency, or extent of the progression of the dermatome over time, from its initial formation to the mature structure. The dermatome is the portion of a somite that will form skin. tmpxe7fu0cj_hp_relaxed.owl dph 2010-07-14T08:43:08Z biological_process owl:Class GO:0061054 biolink:NamedThing dermatome development The progression of the dermatome over time, from its initial formation to the mature structure. The dermatome is the portion of a somite that will form skin. tmpxe7fu0cj_hp_relaxed.owl dph 2010-03-02T12:07:37Z biological_process owl:Class HP:0009458 biolink:NamedThing Aplasia of the proximal phalanx of the 3rd finger Absence of the proximal phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Absent innermost bone of middle finger UMLS:C4024347 doelkens 2009-01-14T04:35:28Z human_phenotype owl:Class N44711a6d062341df83ea6fa85ba1d8e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N44d99f7e9c7e4dcca303577c3b7a03e5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf445be6ac3994955a5f026bb4fb64808 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4447c819a3dd4f2c9cf875c3168046ed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na87bea767d2e45dd895750bbb0f717e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0086016 biolink:NamedThing AV node cell action potential An action potential that occurs in an atrioventricular node cardiac muscle cell. tmpxe7fu0cj_hp_relaxed.owl atrioventricular node cardiac muscle cell action potential|AV node cardiac muscle cell action potential tb 2011-11-10T08:58:56Z biological_process owl:Class UBERON:0010191 biolink:NamedThing aortic system tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004512 uberon owl:Class UBERON:0004412 biolink:NamedThing proximal epiphysis of femur A proximal epiphysis that is part of a femur [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal femoral epiphysis|capital femoral epiphysis FMA:32841 uberon owl:Class UBERON:0005430 biolink:NamedThing ansa cervicalis A loop of nerves that are part of the cervical plexus that lies superficial to the internal jugular vein in the carotid sheath. Branches from the ansa cervicalis innervate three of the four infrahyoid muscles, including the sternohyoid muscle, the sternothyroid muscle, and the omohyoid muscle. tmpxe7fu0cj_hp_relaxed.owl ansa hypoglossi|ansa cervicalis EHDAA2:0000124|BAMS:ancer|FMA:55142|EHDAA:6669 http://upload.wikimedia.org/wikipedia/commons/e/e6/Gray795.png uberon owl:Class UBERON:0003725 biolink:NamedThing cervical nerve plexus An arrangement of nerve fibers, running from the spine that travels to the head and neck where it innervates skin and muscle. tmpxe7fu0cj_hp_relaxed.owl plexus cervicalis|cervical plexus|cervical nerve plexus MESH:D002572|OpenCyc:Mx4rvkEE3JwpEbGdrcN5Y29ycA|FMA:5904|GAID:847|BAMS:cep http://upload.wikimedia.org/wikipedia/commons/2/20/Gray784.png uberon owl:Class GO:0042641 biolink:NamedThing actomyosin Any complex of actin, myosin, and accessory proteins. tmpxe7fu0cj_hp_relaxed.owl actomyosin complex|actomyosin structure cellular_component owl:Class Nd788c1f7ab3040128d0879b90133007f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012490 biolink:NamedThing Panniculitis Inflammation of adipose tissue. tmpxe7fu0cj_hp_relaxed.owl Inflammation of fat tissue|Inflammation of adipose tissue UMLS:C0030326|MSH:D015434|SNOMEDCT_US:22125009 Panniculitis most commonly affects the skin and characterized by reddened subcutaneous nodules. peter 2013-11-29T09:28:11Z human_phenotype owl:Class N12418774ad794d7a8c756d5f2dd45d9e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0008206 biolink:NamedThing bile acid metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:47891 biolink:NamedThing steroid acid Any steroid substituted by at least one carboxy group. tmpxe7fu0cj_hp_relaxed.owl steroid acids chebi_ontology owl:Class UBERON:0010962 biolink:NamedThing extensor pre-muscle mass tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000459 uberon owl:Class HP:3000053 biolink:NamedThing Abnormal hypopharynx morphology A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus. tmpxe7fu0cj_hp_relaxed.owl Abnormality of lower pharynx|Abnormality of hypopharynx UMLS:C4073261 vasilevs 2015-08-07T01:09:07Z owl:Class N11e6626fc5d14840a23931e208ce7c50 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009884 biolink:NamedThing Tapered distal phalanges of finger A reduction in diameter of the distal phalanx of finger towards the distal end. tmpxe7fu0cj_hp_relaxed.owl Tapered outermost finger bone|Tapered distal phalanges|Tapered distal phalanges of the hand UMLS:C1969237 doelkens 2009-04-24T04:40:31Z HP:0006052 human_phenotype owl:Class N01e760478a224ab5bd0bf3f94129f59a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf055b220957e480992ee92ab2c201ff4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:1000015 biolink:NamedThing skin of snout A zone of skin that is part of the snout. tmpxe7fu0cj_hp_relaxed.owl snout skin MA:0003079|EMAPA:37746 uberon owl:Class Na8099c3e7416462cb92ee8e4ee584de3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009453 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 3rd finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024352 doelkens 2009-01-14T04:33:41Z human_phenotype owl:Class N7d20aa1fe7a44df98ff75ef32799ca7a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003282 biolink:NamedThing mesentery of heart A mesentery that surrounds the heart. tmpxe7fu0cj_hp_relaxed.owl mesocardium|cardiac mesentery|heart mesentery EMAPA:16212|EHDAA:432|RETIRED_EHDAA2:0000739|VHOG:0000353 uberon owl:Class CHEBI:48873 biolink:NamedThing cholinergic antagonist Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists. tmpxe7fu0cj_hp_relaxed.owl cholinergic-blocking agents|agentes anticolinergicos|Anticholinergika|anticholinergics|anticholinergiques|anticolinergicos|agente anticolinergico|acetylcholine antagonists|agent anticholinergique|Anticholinergikum|acetylcholine receptor antagonist|anticholinergic agents chebi_ontology owl:Class GO:0061072 biolink:NamedThing iris morphogenesis The process in which the iris is generated and organized. The iris is an anatomical structure in the eye whose opening forms the pupil. The iris is responsible for controlling the diameter and size of the pupil and the amount of light reaching the retina. tmpxe7fu0cj_hp_relaxed.owl dph 2010-03-16T10:48:42Z biological_process owl:Class UBERON:0006686 biolink:NamedThing spinal vein A vein that is part of a vertebral column. tmpxe7fu0cj_hp_relaxed.owl spinal branch|vena spinalis EMAPA:18255|MA:0002108|FMA:76735 uberon owl:Class HP:0032632 biolink:NamedThing Renal papillary necrosis Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class Ndeaabcc7740d41f3ac07786decacfcaa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008230 biolink:NamedThing tibialis Either of two muscles of the calf of the leg. tmpxe7fu0cj_hp_relaxed.owl tibialis muscle BTO:0000864|NCIT:C53076|UMLS:C1710422|MA:0002425|EMAPA:35867 uberon owl:Class N402d2f4de57e4d85b7ba435bb0a97df3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nabf8b99a65f04007864b9b48de0ee70a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005673 biolink:NamedThing left lung endothelium An endothelium that is part of a left lung. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000961 uberon owl:Class PATO:0001652 biolink:NamedThing alignment A spatial quality inhering in a bearer by virtue of the bearer's spatial positioning with respect to an additional entity. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class UBERON:0000018 biolink:NamedThing compound eye A light sensing organ composed of ommatidia. tmpxe7fu0cj_hp_relaxed.owl insect eye|Facettenauge|zusammengesetztes Auge|faceted eye|Komplexauge|adult compound eye Wikipedia:Compound_eye|BTO:0001921|TGMA:0000024|FBbt:00004508|HAO:0000217 uberon https://github.com/obophenotype/uberon/issues/457 owl:Class The term compound eye is sometimes used for the multi-unit eyes of annelids, bivalves, echinoderms. We follow Richter et al and restrict this class to the arthropod structure for these structures HP:3000015 biolink:NamedThing Abnormality of risorius muscle An abnormality of a risorius muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073224 vasilevs 2015-02-26T03:58:51Z human_phenotype owl:Class N9b0134bbb681433ab08ace4357e08e9a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1902532 biolink:NamedThing negative regulation of intracellular signal transduction Any process that stops, prevents or reduces the frequency, rate or extent of intracellular signal transduction. tmpxe7fu0cj_hp_relaxed.owl down-regulation of intracellular signaling chain|downregulation of intracellular signal transduction|negative regulation of intracellular signaling cascade|negative regulation of signal transmission via intracellular cascade|inhibition of signal transduction via intracellular signaling cascade|negative regulation of intracellular signaling pathway|inhibition of intracellular signaling cascade|down regulation of intracellular signal transduction|down regulation of intracellular signal transduction pathway|downregulation of intracellular signaling cascade|down-regulation of signal transmission via intracellular cascade|negative regulation of signal transduction via intracellular signaling cascade|down-regulation of intracellular signaling cascade|inhibition of intracellular signal transduction pathway|down-regulation of signal transduction via intracellular signaling cascade|down regulation of signal transmission via intracellular cascade|down regulation of intracellular signaling pathway|negative regulation of intracellular signaling chain|down regulation of intracellular signaling chain|down regulation of intracellular signaling cascade|downregulation of intracellular signaling pathway|inhibition of signal transmission via intracellular cascade|down-regulation of intracellular signal transduction|inhibition of intracellular signaling chain|downregulation of signal transduction via intracellular signaling cascade|downregulation of signal transmission via intracellular cascade|inhibition of intracellular signaling pathway|negative regulation of intracellular signal transduction pathway|down-regulation of intracellular signaling pathway|downregulation of intracellular signaling chain|down-regulation of intracellular signal transduction pathway|negative regulation of intracellular protein kinase cascade|downregulation of intracellular signal transduction pathway|inhibition of intracellular signal transduction|down regulation of signal transduction via intracellular signaling cascade bf 2013-12-02T11:33:01Z GO:0010741 biological_process owl:Class GO:0035556 biolink:NamedThing intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. tmpxe7fu0cj_hp_relaxed.owl signal transduction via intracellular signaling cascade|intracellular signal transduction pathway|intracellular signaling chain|signal transmission via intracellular cascade|intracellular protein kinase cascade|protein kinase cascade|intracellular signaling cascade|intracellular signaling pathway bf 2010-05-14T01:14:37Z GO:0007242|GO:0023034|GO:0007243|GO:0023013 biological_process owl:Class HP:0030285 biolink:NamedThing Splayed superior cerebellar peduncle Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022536 owl:Class N095ae70a92974e4893dcba696f306544 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010295 biolink:NamedThing substantia propria of sclera A stroma that is part of a sclera. tmpxe7fu0cj_hp_relaxed.owl subsantia propria|substantia propria sclerae|subsantia propria sclerae|scleral stroma|stroma of sclera UMLS:C1704397|NCIT:C33652|SCTID:368851004|FMA:58365 uberon owl:Class GO:0044249 biolink:NamedThing cellular biosynthetic process The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl cellular synthesis|cellular biosynthesis|cellular formation|cellular anabolism biological_process owl:Class HP:0030984 biolink:NamedThing Abnormal serum bile acid concentration A deviation from the normal concentration of serum bile acid concentration. tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 12:45:39+00:00 There are two major bile acids, cholic acid and chenodeoxycholic acid, which are synthesised in the hepatocyte by the cytochrome P450-mediated oxidation of cholesterol. These bile acids are secreted into the biliary canaliculi as sodium salts and conjugated with glycine, taurine, sulphate or glucuronic acid, and stored in the gall bladder until excreted into the intestinal lumen in response to a fatty meal. Enterohepatic circulation of bile salts is associated with conversion of the primary bile salts to seconday bile salts by bacerial enyzmes. The total bile pool of about 4 grams is recirculated about 5 to 10 times per day. Because serum bile salt concentration can increase by two to five times after a meal it is important that bile salts are measured while the subject is fasting. peter owl:Class Nc5c01dc7430a4ac5a3e8b8531a190e52 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003204 biolink:NamedThing cardiac skeleton development The progression of the cardiac skeleton over time, from its formation to the mature structure. The cardiac skeleton is a specialized extracellular matrix that separates the atria from the ventricles and provides physical support for the heart. tmpxe7fu0cj_hp_relaxed.owl heart fibrous skeleton development dph 2009-10-13T09:05:04Z biological_process owl:Class N5782f812d1bc4fe0baaf4890f9aef150 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010315 biolink:NamedThing Aplasia/Hypoplasia of the diaphragm Absence or underdevelopment of the diaphragm. tmpxe7fu0cj_hp_relaxed.owl Absent/small diaprhagm|Absent/underdeveloped diaprhagm UMLS:C4023910 peter 2009-07-12T02:41:58Z human_phenotype owl:Class N859da4a709cd495e89ea50377af45973 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001111 biolink:NamedThing intercostal muscle The respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib. tmpxe7fu0cj_hp_relaxed.owl intercostales|respiratory muscle|musculus intercostalis|rib muscle EHDAA2:0000841|VHOG:0000903|MA:0002324|FMA:13354|EFO:0001368|MESH:D007366|OpenCyc:Mx4rwQo8QJwpEbGdrcN5Y29ycA|GAID:159|EMAPA:18521|MA:0003165|BTO:0005281|UMLS:C0021724|EHDAA:5988|NCIT:C32824 http://upload.wikimedia.org/wikipedia/commons/f/f2/Gray411.png uberon owl:Class Inspiration by active expansion of the thorax evolved later, in the ancestor of reptiles, birds, and mammals. This was powered originally by the intercostal muscles (as in lizards or crocodilians) and later (in mammals only) by a muscular diaphragm.[well established][VHOG] GO:0005775 biolink:NamedThing vacuolar lumen The volume enclosed within the vacuolar membrane. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:0048332 biolink:NamedThing mesoderm morphogenesis The process in which the anatomical structures of the mesoderm are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N6da88f15bfde4a63bee07de8935690ad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004276 biolink:NamedThing fourth ventricle choroid plexus epithelium A choroid plexus epithelium that is part of a fourth ventricle [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelium of choroid plexus of fourth ventricle|epithelium of chorioid plexus of cerebral hemisphere of fourth ventricle|chorioid plexus of cerebral hemisphere epithelial tissue of fourth ventricle|fourth ventricle epithelial tissue of chorioid plexus of cerebral hemisphere|fourth ventricle epithelial tissue of choroid plexus|epithelial tissue of choroid plexus of fourth ventricle|fourth ventricle epithelium of choroid plexus|fourth ventricle choroid plexus epithelial tissue|chorioid plexus of cerebral hemisphere epithelium of fourth ventricle|choroid plexus epithelial tissue of fourth ventricle|fourth ventricle chorioid plexus of cerebral hemisphere epithelium|fourth ventricle chorioid plexus of cerebral hemisphere epithelial tissue|fourth ventricle epithelium of chorioid plexus of cerebral hemisphere|choroid plexus epithelium of fourth ventricle|epithelial tissue of chorioid plexus of cerebral hemisphere of fourth ventricle UMLS:C1707392|NCIT:C49230|FMA:242823|MA:0000984 uberon owl:Class HP:0012741 biolink:NamedThing Unilateral cryptorchidism Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. tmpxe7fu0cj_hp_relaxed.owl Cryptorchidism, unilateral SNOMEDCT_US:268227001|UMLS:C0431664|MSH:D003456 peter 2014-03-23T04:41:57Z human_phenotype owl:Class N7b3e0721c4324bae9d5757e86327f1b0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006720 biolink:NamedThing pterygoid muscle tmpxe7fu0cj_hp_relaxed.owl pterygoideus muscle|pterygoideus|pterygoid MESH:D011626|GAID:147|EMAPA:25139|AAO:0010730 uberon owl:Class We use this class to group the medial and lateral pterygoids of mammals as well as the pterygoideus of amphibians and reptiles. Note that FEED includes a distinct class for the reptilian pterygoideus. In future, this branch of the ontology may be refined to include a more complete classification of jaw adductors across gnathostomes. See for example DOI:10.1134/S1062359010090050 Nfd436b4b0a53468985a73860790b8a68 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003564 biolink:NamedThing diencephalon dura mater A dura mater that is part of a diencephalon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl dura mater of neuraxis of between brain|mature diencephalon dura mater|dura mater of diencephalon|interbrain dura mater|between brain dura mater of neuraxis|mature diencephalon dura mater of neuraxis|dura mater of interbrain|interbrain dura mater of neuraxis|dura mater of neuraxis of mature diencephalon|diencephalon dura mater of neuraxis|between brain dura mater|dura mater of between brain|dura mater of neuraxis of diencephalon|dura mater of mature diencephalon|dura mater of neuraxis of interbrain EMAPA:17766|MA:0000828|VHOG:0000258 uberon owl:Class Dura mater that is part of the diencephalon. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] Nb82bdb16cf114bc1a2341032cb02d607 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100292 biolink:NamedThing Amyloidosis of peripheral nerves The presence of amyloid deposition in the nerves of the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022162 doelkens 2010-08-10T01:46:51Z human_phenotype owl:Class Nd2d41bcf7ead442eba461429335fa0bc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002400 biolink:NamedThing parietal pleura The outer serous membrane of the pulmonary pleural. tmpxe7fu0cj_hp_relaxed.owl pleura parietalis FMA:9733|VHOG:0001495|MA:0002488|UMLS:C0225777|SCTID:361998003|EMAPA:16776|Wikipedia:Parietal_pleura|NCIT:C33273|OpenCyc:Mx4rvv2Uq5wpEbGdrcN5Y29ycA the part of the pleura external to the visceral pleura. It lines the inner surface of the chest wall, covers the diaphragm, and is reflected over the structures occupying the middle of the thorax uberon owl:Class HP:0000408 biolink:NamedThing Progressive sensorineural hearing impairment A progressive form of sensorineural hearing impairment. tmpxe7fu0cj_hp_relaxed.owl Sensorineural hearing loss, progressive|Bilateral progressive sensorineural hearing loss|Hearing loss, progressive sensorineural|Hearing loss, sensorineural, progressive|Hearing loss, sensorineural, bilateral, progressive|Progressive bilateral sensorineural hearing loss UMLS:C1843156 HP:0008601|HP:0008617|HP:0008592|HP:0000406|HP:0000397 human_phenotype owl:Class Nd7981c5300744bef9ac4d4fe54ba1ef8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N217e2e304c9e463a912387f16aff13c7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004422 biolink:NamedThing proximal epiphysis of first metacarpal bone A proximal epiphysis that is part of a metacarpal bone of digit 1 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal epiphysis of metacarpal 1|first metacarpal bone base|base of first metacarpal bone FMA:42788 uberon owl:Class HP:0410055 biolink:NamedThing Decreased level of erythritol in urine A decrease in the level of erythritol in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-01-27 02:15:00+00:00 ORCID:0000-0001-5208-3432 owl:Class N9d3a41360584435ca99c4fe2b8d50681 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N60f744e7bc95437fa4109fc023b7c8ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008425 biolink:NamedThing mammary ridge A ridge of epidermal cells that will form the mammary placodes. tmpxe7fu0cj_hp_relaxed.owl mammary line|mammary fold|mammary gland ridge|milk line EMAPA:18541 consider splitting ridge (precursor) and milk line uberon owl:Class These buds are either located in the thoracic region in primates, in the inguinal area in ungulates or along the entire length of the trunk in rodents and pigs. In humans, milk lines appear in the seventh week of embryonic development in mouse, mammary gland development begins shortly after mid-gestation (about E10.5); epidermal cells within the milk line become columnar and multilayered, defining a ridge that protrudes above and below the plane of the single-layered primitive epidermis or periderm; by E11.5, five pairs of lens-shaped placodes form along the mammary line at the site of each future nipple.[MP]|The first manifestation of the mammary gland in many mammals is an elevated ridge or milk line, which then fragments into individual buds in specific regions lateral of the dorsal midline. After initial development of the milk lines they go into remission. UBERON:0011827 biolink:NamedThing areolar gland A sebaceous glands in the areola surrounding the nipple. tmpxe7fu0cj_hp_relaxed.owl accessory gland of Montgomery|accessory gland of breast|gland of Montgomery|Montgomery's gland|mammary gland sebaceous gland NCIT:C92833|EMAPA:37668|FMA:58090|UMLS:C0929386|MA:0000794 uberon https://sourceforge.net/p/obo/mouse-anatomy-requests/80/ owl:Class Lobular organ the parenchyma of which consists of acini connected to the surface of the areola or to a lactiferous duct by the duct of areolar gland. Examples: There are variable numbers of areolar glands[FMA:58090]. UBERON:0002032 biolink:NamedThing areola Subdivision of breast which consists of skin, connective tissue and smooth muscle bundle and modified sebaceous glands and which surrounds the nipple. tmpxe7fu0cj_hp_relaxed.owl areola mammae|areolae MA:0000788|NCIT:C12368|FMA:67796|UMLS:C0222608|OpenCyc:Mx4rvrcOL5wpEbGdrcN5Y29ycA Female:Areola.jpg|http://upload.wikimedia.org/wikipedia/commons/f/f4/Brustwarze.JPG uberon owl:Class areolar UBERON:0001702 biolink:NamedThing eyelash Any of the hairs that grow at the edge of the upper or lower eyelid. tmpxe7fu0cj_hp_relaxed.owl cilia|eyelid cilium|blepharis|cilium|hair of eyelid|eyelid cilia UMLS:C0015422|FMA:53669|GAID:73|OpenCyc:Mx4rvVi41pwpEbGdrcN5Y29ycA|MESH:D005140|NCIT:C32576|MA:0002702 http://upload.wikimedia.org/wikipedia/commons/9/96/N2_Human_eye.jpg uberon owl:Class eyelashes protect the eye from debris and are sensitive to touch, thus providing a warning that an object is near the eye (which is then closed reflexively) UBERON:0004761 biolink:NamedThing cartilaginous neurocranium The primitive cartilagionous skeletal structure of the fetal skull that grows to envelop the rapidly growing embyonic brain. In humans, the chondrocranium begins forming at 28 days from mesenchymal condensations and is fully formed between week 7 and 9 of fetal development. While the majority of the chondrocranium is succeeded by the bony skull in most higher vertebrates, some components do persist into adulthood.[1] In Cartilagious fishes and Agnathans, the chondrocranium persist throughout life.[2] Embryologically, the chondrocranium represent the basal cranial structure, and lay the base for the formation of the endocranium in higher vertebrates[WP]. tmpxe7fu0cj_hp_relaxed.owl cartilaginous chondocranium|cartilaginous skull|neurocranium|cartiligionous skeletal structure of skull|chondocranium|embryonic chondocranium AAO:0000094|NCIT:C34121|Wikipedia:Chondrocranium|XAO:0003059|FMA:76621|SCTID:155540009|UMLS:C1516496|EHDAA:6031|AAO:0010153 uberon owl:Class in contrast to chondrocranium, this structure is entirely cartiliginous. In Chondricthyes this is the same as the neurocranium. FMA:76621 is an undefined fetal structure, so we assume the correct placement is here. Note that this is distinct from MA:0000317 which is the uberon:neurocranium (the part of the cranium that encloses the brain) HP:0010933 biolink:NamedThing Hyperxanthinemia An increased level of xanthine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023642 Xanthine is a purine base that is a product of purine degradation. peter 2011-01-10T07:53:26Z owl:Class Ne4d3698508724a8594b35b7496ca46bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002340 biolink:NamedThing Caudate atrophy tmpxe7fu0cj_hp_relaxed.owl Caudate degeneration UMLS:C1858116 human_phenotype owl:Class N17be9de7848f45c9be058caa1c70b4b5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001777 biolink:NamedThing substantia propria of cornea The lamellated connective tissue of the cornea between the Bowman and Descemet membranes. tmpxe7fu0cj_hp_relaxed.owl stroma of cornea|substantia propria|corneal stroma|substantia propria corneae TAO:0002189|FMA:58306|NCIT:C12699|MESH:D003319|GAID:893|SCTID:362511000|EFO:0002514|CALOHA:TS-1138|UMLS:C0010040|EMAPA:17602|MA:0001245|ZFA:0001685|Wikipedia:Corneal_stroma http://upload.wikimedia.org/wikipedia/commons/6/66/Gray871.png uberon owl:Class Portion of tissue that is located basal to Bowman's layer and distal to Descemet's membrane and is comprised largely of connective tissue.[TAO] relationship type change: subclass tissue (CARO:0000043) CHANGED TO: has_developmental_contribution_from tissue (UBERON:0000479)[TAO]|relationship type change: subclass tissue (CARO:0000043) CHANGED TO: develops_from tissue (UBERON:0000479)[TAO] UBERON:0004365 biolink:NamedThing vitelline blood vessel Blood vessel that is connected to the yolk sac. tmpxe7fu0cj_hp_relaxed.owl EMAPA:36494 uberon owl:Class UBERON:0004374 biolink:NamedThing vitelline vasculature Vascular network that is connected to the yolk sac. tmpxe7fu0cj_hp_relaxed.owl omphalomesenteric system|vitelline system|vitelline bloos vessel system uberon owl:Class N3f47128756104122a48a5b9a6f5918cc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008784 biolink:NamedThing Wide capital femoral epiphyses Abnormally wide morphology of the proximal epiphysis of the femur. tmpxe7fu0cj_hp_relaxed.owl Wide end part of innermost thighbone UMLS:C4024622 human_phenotype owl:Class N476ba12c8f78457a86e45ec252e13051 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6bf0bd2474b34303b80f04bed847cdc9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:000014841 biolink:NamedThing sonic hedgehog protein A protein that is a translation product of the human SHH gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl Hhg1|SHH|Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains|HHG-1|ShhNC Category=gene. protein owl:Class Nd9bf599b821c42bd97f42fb896a1e65d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:45557 biolink:NamedThing sec-butyl group tmpxe7fu0cj_hp_relaxed.owl butan-2-ido|isoleucine side-chain|SEC-BUTYL GROUP|butan-2-yl|s-butyl|sec-butyl|but-2-yl|CH3-CH2-CH(CH3)-|-CH(CH3)-CH2-CH3|1-methylpropyl 0 C4H9 57.11426 57.07043 CC(*)CC PDBeChem:NBU CHEBI:45554|CHEBI:30352 chebi_ontology owl:Class N38c0a1fec6af474db58b458f4a08defd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0055003 biolink:NamedThing increased rate of occurrence A rate of occurrence that is relatively high. tmpxe7fu0cj_hp_relaxed.owl 2020-08-19 09:23:19+00:00 quality owl:Class N540233f4567f47669d9e3af50f1963cc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0030198 biolink:NamedThing extracellular matrix organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl extracellular matrix organization and biogenesis|extracellular matrix organisation biological_process owl:Class N2456fb9a59b94398a35e6e3d6a6b2778 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N86df3cdcd72242d294a11efb5fcd0523 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0005581 biolink:NamedThing collagen trimer A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Collagen cellular_component owl:Class HP:0002297 biolink:NamedThing Red hair tmpxe7fu0cj_hp_relaxed.owl Ginger hair colour|Red head (hair color)|Red hair color|Red hair|Red hair colour|Ginger hair color UMLS:C0239803|SNOMEDCT_US:297997007 owl:Class Neb2353538b9b4198a84220627b48c8d0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012251 biolink:NamedThing ectocervical epithelium An epithelium that is part of a ectocervix. tmpxe7fu0cj_hp_relaxed.owl exocervical epithelium uberon owl:Class UBERON:0005204 biolink:NamedThing larynx submucosa gland A gland that is part of a larynx submucosa [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl laryngeal submucosa gland MA:0002729|EMAPA:35475 uberon owl:Class N075fa9ded1854211bfc671262127f272 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012592 biolink:NamedThing Albuminuria Increased concentration of albumin in the urine. tmpxe7fu0cj_hp_relaxed.owl MSH:D000419|SNOMEDCT_US:274769005|UMLS:C0001925 peter 2014-01-16T05:49:16Z human_phenotype owl:Class N27d8c7ad3e724ccfa7035d0efb11a4d5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0007422 biolink:NamedThing peripheral nervous system development The process whose specific outcome is the progression of the peripheral nervous system over time, from its formation to the mature structure. The peripheral nervous system is one of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0001820 biolink:NamedThing serotonin secretion The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells. tmpxe7fu0cj_hp_relaxed.owl serotonin release|5-hydroxytryptamine secretion|5-HT secretion biological_process owl:Class UBERON:0005148 biolink:NamedThing metanephric S-shaped body The metanephric S-shaped body is the successor of the metanephric comma-shaped body that contributes to the morphogenesis of a nephron in the metanephros[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0042461 biolink:NamedThing photoreceptor cell development Development of a photoreceptor, a cell that responds to incident electromagnetic radiation, particularly visible light. tmpxe7fu0cj_hp_relaxed.owl photoreceptor morphogenesis GO:0046531 biological_process owl:Class GO:0046530 biolink:NamedThing photoreceptor cell differentiation The specialization of organization of a photoreceptor, a cell that responds to incident electromagnetic radiation, particularly visible light. An example of this process is found in Drosophila melanogaster. tmpxe7fu0cj_hp_relaxed.owl GO:0007467 biological_process owl:Class N09bc3d788e474080871d9ccb4777b1b7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0421339290254dd6ae3c7d2302aac314 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0036289 biolink:NamedThing anterior wall of right ventricle Region of wall of right ventricle which is continuous with the lateral and septal walls of right ventricle. tmpxe7fu0cj_hp_relaxed.owl FMA:9553 uberon owl:Class HP:0009558 biolink:NamedThing Broad distal phalanx of the 2nd finger Increased width of the distal phalanx of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Wide outermost bone of the index finger UMLS:C4024293 doelkens 2009-01-28T04:16:02Z human_phenotype owl:Class Naa1c32fcbccc48988ebd89345ed1de33 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:2000385 biolink:NamedThing positive regulation of ectoderm development Any process that activates or increases the frequency, rate or extent of ectoderm development. tmpxe7fu0cj_hp_relaxed.owl vk 2011-02-15T03:17:39Z biological_process owl:Class UBERON:0011233 biolink:NamedThing synovial membrane of synovial tendon sheath Synovial sac which surrounds parts of one or more tendons. Examples: synovial tendon sheath of manual digit 2, radial bursa. tmpxe7fu0cj_hp_relaxed.owl synovium Wikipedia:Synovial_sheath|BTO:0001823|FMA:40878 Alternate def: A synovial sheath is a layer of a tendon sheath containing tendons in the hand and foot. They lie internal to the fibrous tendon sheaths. An example is the common synovial sheath for the flexor tendons. [Wikipedia:Synovial_sheath] uberon owl:Class GO:0048771 biolink:NamedThing tissue remodeling The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:35469 biolink:NamedThing antidepressant Antidepressants are mood-stimulating drugs used primarily in the treatment of affective disorders and related conditions. tmpxe7fu0cj_hp_relaxed.owl antidepressants|thymoleptics|antidepressant drugs|thymoanaleptics|thymoleptic drugs chebi_ontology owl:Class GO:0001992 biolink:NamedThing regulation of systemic arterial blood pressure by vasopressin tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0009541 biolink:NamedThing Abnormality of the phalanges of the 2nd finger Abnormality of the phalanges of the 2nd (index) finger. tmpxe7fu0cj_hp_relaxed.owl Abnormal index finger bones|Abnormality of 2nd finger phalanges UMLS:C4021450 doelkens 2009-01-21T10:15:07Z HP:0004105 human_phenotype owl:Class N7ca70697c6ea4a529b1097a35c11756c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6fc6f8232ad0461a80acf90f74dd4201 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0005021 biolink:NamedThing unicuspidate tmpxe7fu0cj_hp_relaxed.owl owl:Class N65b61b716e8e4bf587bc0cda9a048a00 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005881 biolink:NamedThing autopodial extension A subdivision of the autopod that corresponds to one or more bones arranged in series branching from the main limb axis. tmpxe7fu0cj_hp_relaxed.owl limb outgrowth|digit or predigit encompasses digits and prepollex. requires review uberon owl:Class HP:0006681 biolink:NamedThing Absent atrioventricular node tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025006 human_phenotype owl:Class Nd220c9fc7a144025be473b980e056e45 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc207f60c8eab4eee8a220d71b5bf55bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004329 biolink:NamedThing proximal phalanx of manual digit 3 A proximal phalanx that is part of a hand digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal phalanx of manual digit III|manual phalanx III-1|3rd finger proximal phalanx|proximal phalanx of 3rd finger|manual digit 3 proximal phalanx|proximal phalanx of third finger|third finger proximal phalanx|proximal phalanx of third digit of hand|third proximal phalanx of hand|proximal phalanx of 3rd digit of hand|hand digit 3 proximal phalanx|proximal phalanx of middle finger|3rd digit of hand proximal phalanx FMA:23920 uberon owl:Class HP:0045008 biolink:NamedThing Abnormal shape of the radius tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022402 HPO:skoehler owl:Class N198858986c5e46be8b79d154d6250612 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:42485 biolink:NamedThing formyl group tmpxe7fu0cj_hp_relaxed.owl methanoyl|FORMYL GROUP|-CH(O)|aldehyde group|H-CO-|-CHO|carbaldehyde|formyl|Fo 0 CHO 29.01804 29.00274 [H]C(*)=O PDBeChem:FOR CHEBI:42480|CHEBI:24089 chebi_ontology owl:Class HP:0006891 biolink:NamedThing Thick cerebral cortex tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024970 owl:Class N31859c59fbe6407eac79cb6436febb47 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd04e0b440f964d80b1a39bb31f4027b8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0001909 biolink:NamedThing leukocyte mediated cytotoxicity The directed killing of a target cell by a leukocyte. tmpxe7fu0cj_hp_relaxed.owl immune cell mediated cell death|immune cell mediated cytotoxicity|immune cell mediated cell killing|leucocyte mediated cytotoxicity Note that this term and its children describe contact-dependent killing of target cells by lymphocytes and myeloid cells of the immune system. biological_process owl:Class N6f9690573fca4c01a990f95096576af4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001574 biolink:NamedThing Abnormality of the integument An abnormality of the integument, which consists of the skin and the superficial fascia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025761 Abnormality of skin, hair, or nails. human_phenotype owl:Class Nd40168f1994041778ff7fd10b721f6db biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002279 biolink:NamedThing vestibular aqueduct At the hinder part of the medial wall of the vestibule is the orifice of the vestibular aqueduct, which extends to the posterior surface of the petrous portion of the temporal bone. It transmits a small vein, and contains a tubular prolongation of the membranous labyrinth, the ductus endolymphaticus, which ends in a cul-de-sac between the layers of the dura mater within the cranial cavity. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl aqueductus vestibuli FMA:77821|MA:0001186|MESH:D014723|GAID:885 http://upload.wikimedia.org/wikipedia/commons/1/16/Gray921.png uberon owl:Class HP:0000822 biolink:NamedThing Hypertension The presence of chronic increased pressure in the systemic arterial system. tmpxe7fu0cj_hp_relaxed.owl High blood pressure|Systemic hypertension|Arterial hypertension UMLS:C0497247|UMLS:C0020538|SNOMEDCT_US:38341003|MSH:D006973|SNOMEDCT_US:24184005 Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. HP:0005126|HP:0004949 owl:Class Nf18af98d9601408f97eb77f83576f4b6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010559 biolink:NamedThing pedal digit 3 metatarsal cartilage element A pedal digit metatarsal cartilage element that is part of a pedal digit 3 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl pedal digit III metatarsal cartilage element|toe 3 metatarsal cartilage element|foot digit 3 metatarsal cartilage element|hind limb digit 3 metatarsal cartilage condensation EMAPA:18116 uberon owl:Class Nfc6c5ad4510247a3a4854379b5b91a26 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:49323 biolink:NamedThing contraceptive drug A chemical substance that prevents or reduces the probability of conception. tmpxe7fu0cj_hp_relaxed.owl contraceptive agent|contraceptive drugs chebi_ontology owl:Class GO:0002064 biolink:NamedThing epithelial cell development The process whose specific outcome is the progression of an epithelial cell over time, from its formation to the mature structure. An epithelial cell is a cell usually found in a two-dimensional sheet with a free surface. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N15b45359c37e4a87a2c521c1031b8831 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005332 biolink:NamedThing mesonephric S-shaped body The mesonephric S-shaped body is the successor of the mesonephric comma-shaped body that contributes to the morphogenesis of a nephron in the mesonephros[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0006135 biolink:NamedThing myelinated nerve fiber Axons of neurons encased in a lipoproteinaceous material called myelin. (MeSH). tmpxe7fu0cj_hp_relaxed.owl FMA:5915|UMLS:C0027750|GAID:745|NCIT:C12627|MESH:A08.663.542.512|SCTID:362296008 consider adding link to UBERON:0002316 ! white matter of neuraxis uberon owl:Class http://www1.pbrc.hawaii.edu/~danh/MyelinEvolution/evolution.html, http://journals.cambridge.org/action/displayAbstract?fromPage=online&aid=6134604, Wikipedia:Myelin#Invertebrate_myelin HP:0011803 biolink:NamedThing Bifid nose Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. tmpxe7fu0cj_hp_relaxed.owl Indentation or clefting of the nose|Indented bridge of nose|Cleft nasal bridge|Bifid nasal bridge|Cleft nose UMLS:C4280319|SNOMEDCT_US:204521002|MSH:C535441|UMLS:C0221363|UMLS:C4280318 This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip. peter 2012-04-25T08:09:58Z human_phenotype owl:Class Nd8a13326cb9042959c13a4b847230966 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000074 biolink:NamedThing renal glomerulus A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]. tmpxe7fu0cj_hp_relaxed.owl renal corpuscle|glomerular tuft|Malpighian tuft|Malpighian glomerulus|Malphigian glomerulus|renal glomeruli|glomerular capillary tuft|glomerulus|glomerulus renis MA:0001657|ZFA:0001288|BTO:0000530|EFO:0003667|CALOHA:TS-0862|UMLS:C0022663|EMAPA:28329|MESH:D007678|FMA:15624|NCIT:C13250|EV:0100386|TAO:0001288 Melissa Haendel 2009-06-18T09:26:37Z Renal:corpuscle.svg|http://upload.wikimedia.org/wikipedia/commons/3/30/Gray1130.svg uberon owl:Class ZFA - The multi-tissue structure where the glomerular basement membrane supported by mesonephric podocytes filters blood from the glomerular capillaries. GUDMAP: 'Together, the Bowman's capsule and the glomerulus comprise the definitive renal corpuscle.' - here the glomerulus is part of the capsule? UBERON:0005426 biolink:NamedThing lens vesicle Portion of tissue that gives rise to the lens. tmpxe7fu0cj_hp_relaxed.owl hollow lens vesicle|solid lens vesicle|presumptive lens|immature lens|lens mass ZFA:0001679|TAO:0002205|VHOG:0001163|EHDAA:4737|SCTID:361510002|EHDAA2:0000983|EMAPA:17163 uberon owl:Class A vesicle formed from the lens pit of the embryo, developing into the crystalline lens. [TFD][VHOG] (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The optic cup induces the overlying surface ectoderm first to thicken as a lens placode and then to invaginate and form a lens vesicle that differentiates into the lens.[well established][VHOG] the lens of zebrafish (and other teleosts) forms from delamination of cells from the lens placode; thus, there is no formation of a hollow lens vesicle, in contrast to the situation in mammals and birds (Glass and Dahm, 2004) [PMID:16496288] The lens of the zebrafish forms by delamination of lens placodal cells and not through invagination. This results in a solid spherical mass as opposed to a hollow lens vesicle. Detachment of the solid lens vesicle of zebrafish at 24b26 hpf is accomplished in part by apoptosis, similar to mammals UBERON:0013506 biolink:NamedThing cervical vertebra pre-cartilage condensation A cervical vertebra endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0010557 biolink:NamedThing Overlapping fingers A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1446712 Overlapping of the fingers occurring as the result of a deviation of the fingers from their normal position. Fingers that are laterally deviated, but do not rest on top of adjacent fingers should be coded as Clinodactyly. sandra1 2009-10-13T09:21:52Z human_phenotype owl:Class N13cbc4e2bffc4e2585f6ab3775829ef6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne5ce640da9224c1b8f074d4c317b7fa1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N017126ecdb574abeaeec4d7f62fcf977 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000098 biolink:NamedThing sensory epithelial cell A specialized epithelial cell involved in sensory perception. Restricted to special sense organs of the olfactory, gustatory, and vestibulocochlear receptor systems; contain sensory cells surrounded by supportive, non-receptive cells. tmpxe7fu0cj_hp_relaxed.owl neuroepithelial cell BTO:0004301 The term "neuroepithelial cell" is used to describe both this cell type and neurecto-epithelial cell (CL:0000710). cell owl:Class UBERON:0010943 biolink:NamedThing anterior digastric muscle The anterior digastric is a pharyngeal arch I muscle that participates in oral/pharygeal behaviors and is innervated by the nerve to mylohyoid (a branch of the third division of the trigeminal nerve), is attached to the mandible and to the hyoid apparatus, and it is superficial to mylohyoid muscle. tmpxe7fu0cj_hp_relaxed.owl anterior digastric|digastricus, venter rostralis|anterior belly of digastric|venter posterior musculus digastrici anterior|venter anterior (musculus digastricus)|anterior belly of digastric muscle|digastric, anterior|anterior digastric muscle|digastricus anterior belly|digastricus anterior EMAPA:37405|FMA:46302 uberon https://github.com/obophenotype/uberon/issues/538 owl:Class The anterior digastric is a pharyngeal arch I muscle that participates in oral/pharygeal behaviors and is innervated by the nerve to mylohyoid and superficial to mylohyoid muscle, and lacks the midline raphe.[FEED] absent in orangutans N897015f92645456dad245f4632728b75 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002187 biolink:NamedThing terminal bronchiole The last conducting structure of non-respiratory bronchioles; after this point, the airways have alveoli in their walls. tmpxe7fu0cj_hp_relaxed.owl bronchioli terminalis|terminal bronchiole tube|bronchiolus terminalis FMA:7411|NCIT:C33754|BTO:0003223|OpenCyc:Mx4rwS7IU5wpEbGdrcN5Y29ycA|UMLS:C0225666|EMAPA:36282|MA:0000424 Alveoli:diagram.png uberon owl:Class Nc56f0d749c3442ffafa09006693837bd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008191 biolink:NamedThing Thyroid agenesis The congenital absence of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Athyroidal hypothyroidism MSH:D050033|UMLS:C0749420|UMLS:C4020805 human_phenotype owl:Class N03c17ad5999f4d9b813a0d95f1cd4372 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007159 biolink:NamedThing lumen of colon An anatomical cavity that surrounded_by a colon. tmpxe7fu0cj_hp_relaxed.owl colon lumen|colonic lumen EMAPA:18945|FMA:18374 uberon owl:Class UBERON:0001598 biolink:NamedThing temporalis muscle Pharyngeal arch 1 muscle that is innervated by the deep temporal branches of the trigeminal nerve and attaches to the wall of the braincase (including the cranial vault) and mandible. tmpxe7fu0cj_hp_relaxed.owl temporal muscle|jaw adductor muscle|musculus temporalis|temporalis MA:0002390|MESH:D013703|EMAPA:25138|EHDAA2:0002001|GAID:148|EHDAA:10565|VHOG:0000929|FMA:49006|UMLS:C0039487|NCIT:C33743 http://upload.wikimedia.org/wikipedia/commons/d/d3/Gray382.png uberon owl:Class Pharyngeal arch 1 muscle that is innervated by the deep temporal nerves and attaches to the wall of the braincase and mandible.[FEED]|the superior-most masticatory muscle whose action is closing the jaws; its posterior portion retracts the mandible The division of the adductor mandibulae in the various lines of tetrapod evolution correlates with divergences in their methods of feeding. (...) As the jaws become stronger and their movements more complex in the line of evolution toward mammals, the adductor complex becomes divided into several distinct muscles (temporalis, masseter, pterygoideus, tensor tympani, tensor veli palati).[well established][VHOG] GO:0071626 biolink:NamedThing mastication The process of biting and mashing food with the teeth prior to swallowing. tmpxe7fu0cj_hp_relaxed.owl chewing mah 2010-02-10T11:19:48Z biological_process owl:Class HP:0009177 biolink:NamedThing Proximal/middle symphalangism of 5th finger Fusion of the proximal and middle phalanges of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Fused innermost and middle bones of pinkie finger|Symphalangism of the proximal and middle phalanges of the 5th finger|Fused innermost and middle bones of little finger|Fused innermost and middle bones of pinky finger|Proximal 5th finger symphalangism|Proximal fifth finger symphalangism UMLS:C1836212 peter 2008-12-29T03:17:08Z HP:0009235|HP:0006025|HP:0005835 human_phenotype owl:Class Nade59b4605b742b9bf20277e1ee035f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0034875 biolink:NamedThing future pituitary gland tmpxe7fu0cj_hp_relaxed.owl pituitary primordium EHDAA2:0001472|EMAPA:32796 uberon owl:Class HP:0001643 biolink:NamedThing Patent ductus arteriosus In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. tmpxe7fu0cj_hp_relaxed.owl Persistent arterial duct|PDA|Ductus arteriosus|Persistent ductus arteriosus SNOMEDCT_US:83330001|MSH:D004374|UMLS:C0013274|Fyler:2100 owl:Class Nb0a220168df84f738fb1e2de38500ba7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0014020 biolink:NamedThing primary neural tube formation The formation of the neural tube from an epithelial cell sheet (the neuroepithelium or neural plate). In primary neurulation, the cells surrounding the neural plate direct the neural plate cells to proliferate, invaginate, and pinch off from the surface to form a hollow epithelial tube. Primary neurulation is the typical mechanism of formation of the anterior neural tube. tmpxe7fu0cj_hp_relaxed.owl primary neural tube morphogenesis|primary neurulation biological_process owl:Class UBERON:0009913 biolink:NamedThing renal lobe The portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it[MP]. It is composed of many renal lobules[WP]. tmpxe7fu0cj_hp_relaxed.owl lobi renalis|kidney lobe|lobi renales|lobus renalis NCIT:C32894|FMA:17881|UMLS:C0736382 Kidney:PioM.png todo - add has_part relationships. uberon owl:Class human kidneys have multilobar (multipyramidal) architecture while mice and rats have unilobar (unipyramidal) kidneys GO:0001569 biolink:NamedThing branching involved in blood vessel morphogenesis The process of coordinated growth and sprouting of blood vessels giving rise to the organized vascular system. tmpxe7fu0cj_hp_relaxed.owl patterning of blood vessels biological_process owl:Class HP:0041081 biolink:NamedThing Fractured lower leg Bone fracture anywhere in the tibia, fibula, or ankle. tmpxe7fu0cj_hp_relaxed.owl Fracture of the lower leg|Lower limb fracture|Lower extremity fracture owl:Class N5dcd372a3a52409db75796a0e41e5545 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008780 biolink:NamedThing inner cell mass derived epiblast An embryonic structure that is derived from the inner cell mass and lies above the hypoblast and gives rise to the three primary germ layers. tmpxe7fu0cj_hp_relaxed.owl embryonic epiblast EHDAA:42|EHDAA2:0000444|EMAPA:16050|EHDAA:75|NCIT:C34164|UMLS:C1516906 The epiblast cells (appearing on day 8 of human embryonic development) make up a columnar epithelium with dense microvilli on the apical surface. During gastrulation, the epiblast cells undergo epithelial-to-mesenchymal transition and delaminate to become the loose mesenchyme of the primitive streak. The epiblast is present in postimplantation mouse embryos between E5.5-E7.5. uberon owl:Class HP:0032098 biolink:NamedThing Hypomanganesemia A reduction below the normal concentration of manganese in the blood. tmpxe7fu0cj_hp_relaxed.owl 2018-11-04 11:14:54+00:00 peter owl:Class N51e9a7f65a9345cfa122a9a79f091437 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007047 biolink:NamedThing Atrophy of the dentate nucleus Partial or complete wasting (loss) of dentate nucleus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857788 human_phenotype owl:Class Nfaaf5f5a88624efaabc3c7aea705f03e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0041073 biolink:NamedThing Fractured thoracic vertebra A partial or complete breakage of the thoracic vertebra. tmpxe7fu0cj_hp_relaxed.owl bone thoracic vertebra owl:Class N6a2cade104614210b4b21203eb091ead biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0007276 biolink:NamedThing gamete generation The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. tmpxe7fu0cj_hp_relaxed.owl gametogenesis GO:0009552 biological_process owl:Class UBERON:0003715 biolink:NamedThing splanchnic nerve The major nerves supplying sympathetic innervation to the abdomen, including the greater, lesser, and lowest (or smallest) splanchnic nerves that are formed by preganglionic fibers from the spinal cord which pass through the paravertebral ganglia and then to the celiac ganglia and plexuses and the lumbar splanchnic nerves carry fibers which pass through the lumbar paravertebral ganglia to the mesenteric and hypogastric ganglia. tmpxe7fu0cj_hp_relaxed.owl splanchnic nerves|visceral nerve GAID:800|Wikipedia:Splanchnic_nerves|BAMS:spn|FMA:5883|EMAPA:37959|MESH:D013153|SCTID:264198001 uberon owl:Class All carry sympathetic fibers except for the pelvic splanchnic nerves, which carry parasympathetic fibers UBERON:0007385 biolink:NamedThing pectoral appendage lymph vessel A lymphatic vessel that is part of a pectoral appendage. tmpxe7fu0cj_hp_relaxed.owl TAO:0005302|ZFA:0005302 uberon owl:Class Nb8c431870c374383aac052d901928f46 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002000 biolink:NamedThing gluteal muscle On of the muscles that make up the buttocks: the gluteus maximus muscle, gluteus medius muscle and gluteus minimus muscle. tmpxe7fu0cj_hp_relaxed.owl gluteus muscle|gluteus EHDAA2:0000715|MA:0000535|EMAPA:18186|UMLS:C1744702|VHOG:0001316|NCIT:C78205|BTO:0000531|FMA:64922 uberon owl:Class gluteal FMA includes tensor fasciae latae and other buttock muscles. BTO def: Any one of three large skeletal muscles that form the buttock and move the thigh. GO:0010977 biolink:NamedThing negative regulation of neuron projection development Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpxe7fu0cj_hp_relaxed.owl negative regulation of neurite biosynthesis|negative regulation of neurite growth|negative regulation of neurite formation|negative regulation of neurite development|growth cone collapse tb 2009-06-01T10:47:42Z biological_process owl:Class HP:0000085 biolink:NamedThing Horseshoe kidney A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. tmpxe7fu0cj_hp_relaxed.owl Horseshoe kidney|Horseshoe kidneys|Fused kidneys UMLS:C0221353|SNOMEDCT_US:41729002|Fyler:4507|MSH:D000069337 human_phenotype owl:Class N218885a2e7b44a83b8a16e5135e55999 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf2bb858dc9904d2bbc87d1dd9bba7f67 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N613937105099413297f05311e1cfdd19 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005992 biolink:NamedThing pulmonary valve cusp The three fibrous triangular components and associated flap of the pulmonary valve. tmpxe7fu0cj_hp_relaxed.owl semilunar valvule of pulmonary valve|pulmonary valvular cusp|pulmonary semilunar valvule|semilunar cusp of pulmonary valve|cusp of pulmonary valve FMA:7248 uberon owl:Class UBERON:0005294 biolink:NamedThing gonadal ridge The elevation of thickened mesothelium and underlying mesenchyme found on the ventromedial border of the embryonic mesonephros in which the primordial germ cells become embedded, establishing it as the primordium of the testis or ovary. tmpxe7fu0cj_hp_relaxed.owl gonadal ridge|genital ridge|crista gonadalis|genital cord|indifferent gonadal ridge NCIT:C34184|EFO:0001414|FMA:321917|EMAPA:35899|EHDAA2:0004044|NCIT:C34321|AAO:0011047|BTO:0001402|UMLS:C0231047|XAO:0000018|UMLS:C1512243 http://upload.wikimedia.org/wikipedia/commons/3/30/Gray1106.png TODO - check developmental relationships. merge with urogenital ridge? uberon owl:Class in eutherians, SRY transforms the indifferent gonad into testes UBERON:0003575 biolink:NamedThing wrist connective tissue A portion of connective tissue that is part of a wrist [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl connective tissue of carpal region|connective tissue of wrist|carpal region connective tissue MA:0000636|EMAPA:37320 uberon owl:Class GO:0051261 biolink:NamedThing protein depolymerization The process in which protein polymers, compounds composed of a large number of component monomers, are broken down. Depolymerization occurs by the successive removal of monomers from an existing poly- or oligomeric protein. tmpxe7fu0cj_hp_relaxed.owl protein polymer breakdown|protein polymer degradation|protein polymer catabolic process|protein polymer catabolism biological_process owl:Class PR:P22091 biolink:NamedThing T-cell acute lymphocytic leukemia protein 1 homolog (mouse) A T-cell acute lymphocytic leukemia protein 1 that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl mTAL1|Tal1|Tal-1|Scl|Stem cell protein (mouse)|TAL-1 (mouse) UniProtKB:P22091 Category=organism-gene. protein owl:Class N4a3e33602b2348b3a579d37eea23928e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007362 biolink:NamedThing Aplasia/Hypoplasia of the brainstem tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped brainstem|Absent/small brainstem UMLS:C4024904 peter 2008-03-31T05:33:00Z owl:Class N48decbd8656a4742ba736ccbbe351dff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N56807428a25e4216967f3ec9199da7ca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbeeb07e02ec043158c5a2f4238ea4d9f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001158 biolink:NamedThing descending colon The portion of the colon between the left colic flexure and the sigmoid colon at the pelvic brim; the portion of the descending colon lying in the left iliac fossa is sometimes called the iliac colon. tmpxe7fu0cj_hp_relaxed.owl colon descendens UMLS:C0227389|OpenCyc:Mx4rwHsNhpwpEbGdrcN5Y29ycA|BTO:0000641|MA:0001542|EMAPA:35285|FMA:14547|MIAA:0000313|NCIT:C12268|galen:DescendingColon|MAT:0000313|CALOHA:TS-2010|EFO:0000845 http://upload.wikimedia.org/wikipedia/commons/c/ca/Gray1223.png uberon owl:Class UBERON:0011971 biolink:NamedThing calcaneofibular ligament A skeletal ligament that connects the fibula to the calcaneus. tmpxe7fu0cj_hp_relaxed.owl ligamentum calcaneofibulare FMA:44089 Ankle:en.svg uberon owl:Class In humans, it is a narrow, rounded cord, running from the apex of the fibular malleolus downward and slightly backward to a tubercle on the lateral surface of the calcaneus. It is covered by the tendons of the Peronæi longus and brevis. UBERON:0002516 biolink:NamedThing epiphyseal plate A hyaline cartilage plate in the metaphysis at each end of a long bone. The plate is found in children and adolescents; in adults, who have stopped growing, the plate is replaced by an epiphyseal line. tmpxe7fu0cj_hp_relaxed.owl lamina epiphysialis|epiphyseal cartilage|long bone epiphyseal plate|growth plate|epiphyseal growth plate cartilage|epiphyseal growth plate|epiphyseal growth disk|physis|epiphysial plate|epiphyseal disk|cartilago epiphysialis MESH:D006132|GAID:191|BTO:0000412|MA:0002839|FMA:75427|EMAPA:35505 http://upload.wikimedia.org/wikipedia/commons/7/7a/Tib_fib_growth_plates.jpg consider splitting this class into the epiphyseal plates of long bones and vertebrae uberon owl:Class GO:1904364 biolink:NamedThing positive regulation of calcitonin secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0036161 biolink:NamedThing calcitonin secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0004053 biolink:NamedThing external male genitalia The external masculine genital organs, including the penis and scrotum. tmpxe7fu0cj_hp_relaxed.owl male external genitalia|organa genitalia masculina externa|external male genital organ FMA:45642|BTO:0003097|galen:MaleExternalGenitalia|EMAPA:30977 TODO: Relabel. Make distinct organ class. See https://github.com/obophenotype/uberon/issues/547 uberon owl:Class UBERON:0035815 biolink:NamedThing paracardial fat Fat deposits in the mediastinum outside the parietal pericardium . tmpxe7fu0cj_hp_relaxed.owl intrathoracic fat uberon owl:Class Ndff6ba50cf124cc28154d9b1106bc8fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006861 biolink:NamedThing diaphysis proper Subdivision of long bone which forms the part of the bone between two metaphyses. Note that the diaphysis includes the metaphyses, but the diaphysis proper excludes these. tmpxe7fu0cj_hp_relaxed.owl long bone diaphysis|body proper of long bone|shaft proper of long bone FMA:32688|MA:0002803 uberon owl:Class The MA class is associated with EMAPA:35505 but we associate this with the more precise concept of diaphyseal plate N8375d47bdfff410796322b43c02fdffa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:1000456 biolink:NamedThing mesothelial cell of parietal peritoneum A mesothelial cell that is part of the parietal peritoneum. tmpxe7fu0cj_hp_relaxed.owl FMA:72142 cell owl:Class Nb79246897657486981f1d66a574ce481 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:10545 biolink:NamedThing electron Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV. tmpxe7fu0cj_hp_relaxed.owl electron|beta|negatron|e-|beta(-)|e(-)|e|Elektron|beta-particle -1 0.000548579903 0.0 KEGG:C05359|Wikipedia:Electron|PMID:21614077 chebi_ontology owl:Class UBERON:0001384 biolink:NamedThing primary motor cortex The part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord. The motor cortex corresponds to Brodmann's area 4 (MM). The primary motor cortex, or M1, is located on the precentral gyrus and on the anterior paracentral lobule on the medial surface of the brain. Of the three motor cortex areas, stimulation of the primary motor cortex requires the least amount of electrical current to elicit a movement. http://neuroscience.uth.tmc.edu/s3/chapter03.html. tmpxe7fu0cj_hp_relaxed.owl prefrontal gyrus|gyrus precentralis|somatic motor areas|motor cortex|motor area|primary motor area|somatomotor areas|Rolando's area|excitable area BM:Tel-Cx-M1|MESH:A08.186.211.730.885.213.270.548|EMAPA:35704|BAMS:M1|NLX:143555|NCIT:C97339|BAMS:MO|DHBA:10162|FMA:224854|MBA:985|BAMS:MOp|MA:0000907|BTO:0004348|EFO:0002472|UMLS:C0026607 http://upload.wikimedia.org/wikipedia/commons/e/eb/Ba4.png TODO - in MA this is asserted to be part_of BOTH frontal and parietal cortex. in ABA these are disjoint. FMA makes no commitment beyond cerebral cortex. Wikipedia says frontal lobe. Check if species difference or difference in definition. Removed relationship: part_of UBERON:0001872 parietal lobe uberon owl:Class the area of the frontal lobe that is involved with integration of voluntary movements and with speech.[MP]|The part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord. The motor cortex corresponds to Brodmann's area 4 (MM). The primary motor cortex, or M1, is located on the precentral gyrus and on the anterior paracentral lobule on the medial surface of the brain. Of the three motor cortex areas, stimulation of the primary motor cortex requires the least amount of electrical current to elicit a movement. http://neuroscience.uth.tmc.edu/s3/chapter03.html CHEBI:66998 biolink:NamedThing histidinate derivative A carboxylic acid anion which is a conjugate base of a histidine derivative having either D- or L-configuration. tmpxe7fu0cj_hp_relaxed.owl histidinate derivatives chebi_ontology owl:Class UBERON:0004465 biolink:NamedThing musculature of neck Any collection of muscles that is part of a neck [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl musculi cervicis|muscles of neck|musculi colli|cervical muscles|muscle group of neck|neck musculature|set of muscles of neck AAO:0000091|MESH:D009334|EMAPA:36050|FMA:71290 uberon owl:Class N44a603ca843d4436bbf78ac49f388ad8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N10ff95c9c59a4dfdb8966b13ec8b9b6a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf6c75d2f03774fa7a8f54fd8c95d3beb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0030199 biolink:NamedThing collagen fibril organization Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl fibrillar collagen organization|collagen fibril organisation biological_process owl:Class Nd57df670578945a299c6880d135b3d93 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010433 biolink:NamedThing Short distal phalanx of the 2nd toe Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic/small distal phalanx of the 2nd toe|Short outermost bone of the 2nd toe|Short distal phalanx of the second toe UMLS:C4021267 doelkens 2009-07-16T04:28:07Z human_phenotype owl:Class N4781c1214f1548a2bb84ab900569a85f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbb1dd75a881047edbe2a608ca58874a3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7a32ddae04624f7fbead272fd625a9d7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000678 biolink:NamedThing Dental crowding Changes in alignment of teeth in the dental arch tmpxe7fu0cj_hp_relaxed.owl Tooth mass arch size discrepancy|Overcrowding of teeth|Dental overcrowding|Dental crowding|Crowded teeth|Tooth size discrepancy|Inadequate arch length for tooth size UMLS:C0040433|UMLS:C4280617|UMLS:C1317785|UMLS:C4280618|SNOMEDCT_US:699222000|MSH:D008310|SNOMEDCT_US:12351004 Overlapping teeth within an alveolar ridge. owl:Class Ned21b80f35cf474aaab9874ff5d3b344 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb8b869baf9be4b2b80a149d739ff90ab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0001054 biolink:NamedThing CD14-positive monocyte A monocyte that expresses CD14 and is negative for the lineage markers CD3, CD19, and CD20. tmpxe7fu0cj_hp_relaxed.owl monocyte This cell type is compatible with the HIPC Lyoplate markers for 'monocyte'. Note that while CD14 is considered a reliable marker for human monocytes, it is only expressed on approximately 85% of mouse monocytes. cell owl:Class UBERON:0035073 biolink:NamedThing duct of eccrine sweat gland tmpxe7fu0cj_hp_relaxed.owl ductal part of eccrine sweat gland FMA:70617 uberon owl:Class N6a2581de8d2b42ef85738eef8d380a5d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:9347 biolink:NamedThing Eutheria tmpxe7fu0cj_hp_relaxed.owl placentals|Placentalia|placental mammals|eutherian mammals GC_ID:1 ncbi_taxonomy owl:Class UBERON:0011583 biolink:NamedThing stylopodial skeleton Proximal element of a free limb skeleton consisting of the femur and humerus in the forelimb stylopodium and hindlimb stylopodium respectively[VSAO, modified]. tmpxe7fu0cj_hp_relaxed.owl mesomere 1|proximal metapterygial mesomere|propodial skeleton|stylopodium skeleton|stylopodium|propodium|stylopod VSAO:0005007 uberon owl:Class Proximal element of the limb skeleton consisting of the femur and humerus in the forelimb stylopodium and hindlimb stylopodium respectively.[VSAO] stylopodial|propodial PATO:0001593 biolink:NamedThing decreased curvature A curvature which is relatively low. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class N799da0e50d204c3aaae77eaaf616ab64 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003077 biolink:NamedThing Hyperlipidemia An elevated lipid concentration in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated lipids in blood SNOMEDCT_US:55822004|UMLS:C0020473|MSH:D006949 Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL). HP:0008159|HP:0008356 human_phenotype owl:Class Ndd47cb9bcefe489496efac7649729d25 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009579 biolink:NamedThing Proximal/middle symphalangism of the 2nd finger Fusion of the proximal and middle phalanges of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Fused innermost and middle index finger bones UMLS:C4024282 doelkens 2009-01-28T05:23:12Z human_phenotype owl:Class N638b5161c7864c91ab5a1fccbf39a17d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2731df260b3b4e5dad95e2b70197cadb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007647 biolink:NamedThing ectomeninx The outermost layer of the mesenchymal capsule that surrounds the developing brain, of mixed paraxial mesoderm and neural crest origin. The ectomeninx forms the dura mater (both inner layer and outer chondrogenic layer). tmpxe7fu0cj_hp_relaxed.owl future dura mater EHDAA2:0004317 UBERON:0010115 uberon owl:Class GO:0043455 biolink:NamedThing regulation of secondary metabolic process Any process that modulates the frequency, rate or extent of secondary metabolism, the chemical reactions and pathways involving compounds that are not necessarily required for growth and maintenance of cells, and are often unique to a taxon. tmpxe7fu0cj_hp_relaxed.owl regulation of secondary metabolism biological_process owl:Class GO:0019748 biolink:NamedThing secondary metabolic process The chemical reactions and pathways resulting in many of the chemical changes of compounds that are not necessarily required for growth and maintenance of cells, and are often unique to a taxon. In multicellular organisms secondary metabolism is generally carried out in specific cell types, and may be useful for the organism as a whole. In unicellular organisms, secondary metabolism is often used for the production of antibiotics or for the utilization and acquisition of unusual nutrients. tmpxe7fu0cj_hp_relaxed.owl secondary metabolite metabolic process|secondary metabolite metabolism|secondary metabolism Wikipedia:Secondary_metabolism biological_process owl:Class GO:0021884 biolink:NamedThing forebrain neuron development The process whose specific outcome is the progression of a neuron that resides in the forebrain, from its initial commitment to its fate, to the fully functional differentiated cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Nb05f023830254d47816f20b382a2a117 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0007605 biolink:NamedThing sensory perception of sound The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. tmpxe7fu0cj_hp_relaxed.owl hearing|perception of sound Wikipedia:Hearing_(sense) biological_process owl:Class GO:2000471 biolink:NamedThing regulation of hematopoietic stem cell migration Any process that modulates the frequency, rate or extent of hematopoietic stem cell migration. tmpxe7fu0cj_hp_relaxed.owl regulation of hemopoietic stem cell migration bf 2011-03-09T09:34:08Z biological_process owl:Class HP:0010086 biolink:NamedThing Broad proximal phalanx of the hallux Increased width of proximal phalanx of big toe. tmpxe7fu0cj_hp_relaxed.owl Broad innermost bone of the big toe|Broad proximal phalanx of the big toe UMLS:C4021338 doelkens 2009-05-29T12:17:16Z human_phenotype owl:Class N5617dc8a8508482f8f01b4609d7a8614 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013748 biolink:NamedThing ulnar metaphysis A metaphysis that is part of a ulna. tmpxe7fu0cj_hp_relaxed.owl metaphysis of ulna FMA:33767 uberon owl:Class HP:0006424 biolink:NamedThing Elongated radius Increased length of the radius. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025048 human_phenotype owl:Class N9ccd33b094a940b8b9e018077f12da33 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nee68eb460b1142dcbabbbae2387f562a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010421 biolink:NamedThing Duplication of the distal phalanx of the 2nd toe Partial or complete duplication of the distal phalanx of second toe. tmpxe7fu0cj_hp_relaxed.owl Duplication of the outermost bone of the 2nd toe|Partial/complete duplication of the distal phalanx of the 2nd toe UMLS:C4021272 doelkens 2009-07-16T12:44:41Z human_phenotype owl:Class N6f85b880f243431d9c1fe77e8e19c49d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2128cf4325824a6caf37b6b76c94b000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncbebbc92b3654c9b94f4639adc9c0a9f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9652a3842f42421a90da3e4cd6792b58 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010222 biolink:NamedThing anatomical line between pupils tmpxe7fu0cj_hp_relaxed.owl interpupillary line|inter-pupillary line uberon owl:Class UBERON:0003932 biolink:NamedThing cartilage element of chondrocranium A cartilage element of chondrocranium. Example: neurocranial trabecula. tmpxe7fu0cj_hp_relaxed.owl neurocranium cartilage|cartilaginous element of chondrocranium|cartilage of chondrocranium|chondrocranium cartilage TAO:0001461|EFO:0003690|ZFA:0001461 uberon owl:Class UBERON:0013686 biolink:NamedThing anatomical conduit space An anatomical space which is the lumen of some anatomical conduit and connects two or more spaces together[FMA,modified]. tmpxe7fu0cj_hp_relaxed.owl foramen space FMA:9338 uberon owl:Class Na5c6115f4b514cb2b529ab7cea0e8b9a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500223 biolink:NamedThing Increased CSF phenylalanine concentration Abnormally increased levels of phenylalanine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High phenylalanine levels in cerebrospinal fluid 2019-02-25 20:13:37+00:00 owl:Class N18b8c5eeec7e46b4b01106a943b35981 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nef48a8794b89402db0f9d6894f8c682e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008233 biolink:NamedThing Decreased circulating progesterone An reduced concentration of progesterone in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased serum progesterone UMLS:C1858995 Progesterone is a steroid hormone secreted by the corpus luteum after ovulation during the second half of the menstrual cycle. human_phenotype owl:Class N73e350950f194cd7a9778b66e00961fe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010683 biolink:NamedThing Low tissue non-specific alkaline phosphatase An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. tmpxe7fu0cj_hp_relaxed.owl Low tissue non-specific ALP UMLS:C4023742 doelkens 2010-03-05T11:12:08Z human_phenotype owl:Class N2ca984a547f045fc863401357329336d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:35871 biolink:NamedThing oxo monocarboxylic acid Any monocarboxylic acid having at least one additional oxo functional group. tmpxe7fu0cj_hp_relaxed.owl oxo monocarboxylic acids chebi_ontology owl:Class CHEBI:26666 biolink:NamedThing short-chain fatty acid An aliphatic monocarboxylic acid with a chain length of less than C6. If any non-hydrocarbon substituent is present, the compound is not normally regarded as a short-chain fatty acid. tmpxe7fu0cj_hp_relaxed.owl SCFAs|SCFA|short-chain fatty acids 0 CH2OR 45.017 44.99765 OC([*])=O PMID:16633129|PMID:16870803|PMID:20148677|PMID:18203540 chebi_ontology owl:Class GO:1900122 biolink:NamedThing positive regulation of receptor binding Any process that activates or increases the frequency, rate or extent of a protein or other molecule binding to a receptor. tmpxe7fu0cj_hp_relaxed.owl upregulation of receptor binding|activation of receptor binding|up regulation of receptor binding bf 2012-02-22T11:41:00Z biological_process owl:Class GO:0005102 biolink:NamedThing signaling receptor binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. tmpxe7fu0cj_hp_relaxed.owl receptor-associated protein activity|receptor binding|receptor ligand Wikipedia:Ligand_(biochemistry) Where appropriate, also consider annotating to 'receptor agonist activity ; GO:0048018'. molecular_function owl:Class Nbeb70cf63bfd48f78d9f5bc8510b470b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009015 biolink:NamedThing upper back skin A zone of skin that is part of a dorsal thoracic segment of trunk. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37280|SCTID:304890003|MA:0000510 uberon owl:Class UBERON:0008231 biolink:NamedThing dorsal thoracic segment of trunk Subdivision of thorax, which in humans is the posterior part of the thorax and is demarcated from the chest by the external surface of the posterolateral part of the rib cage and the anterior surface of the thoracic vertebral column; together with the chest, it constitutes the thorax. tmpxe7fu0cj_hp_relaxed.owl upper back|dorsum of thorax|thoracic part of back|back of thorax|thoracic back|posterior part of thorax EMAPA:37234|SCTID:362666008|FMA:24217|MA:0000028 uberon owl:Class UBERON:0006689 biolink:NamedThing frenulum of tongue A small fold of mucous membrane extending from the floor of the mouth to the midline of the underside of the tongue. tmpxe7fu0cj_hp_relaxed.owl frenulum|lingual frenum|tongue frenulum|frenulum linguae|lingual frenulum|frenulum of the tongue|frenulum linguæ FMA:54659|EMAPA:18656|NCIT:C87076|UMLS:C2339893 http://upload.wikimedia.org/wikipedia/commons/1/13/Gray1202.png uberon owl:Class UBERON:0010365 biolink:NamedThing odontoid tissue Skeletal tissue that is part of the exoskeleton and derived from an odontogenic papilla. tmpxe7fu0cj_hp_relaxed.owl portion of substance of tooth|tooth substance|odontogenic tissue|tooth tissue|substance of tooth|dental tissue|tooth hard tissue FMA:63001|XAO:0004046|EMAPA:35872|ZFA:0005623|VSAO:0000063|UMLS:C1519551|MA:0002540|NCIT:C33794 UBERON:0001973 uberon owl:Class in many vertebrates, odontoid tissue is not restricted to the teeth Classified as a portion of organism substance in FMA PATO:0002001 biolink:NamedThing has fewer parts of type The bearer of this quality has_part < n AND has_part > 0 of the indicated entity type, where n is the normal amount for a comparable organism. Note that the bearer of the quality is the whole, not the part. Formally: If a bearer entity e has fewer parts of type X at time t, then the number of instances x of X at t such that x part_of e is < n, where n is either the normal number for comparable entities, or n is stated explicitly. tmpxe7fu0cj_hp_relaxed.owl has fewer physical parts of type|has decreased number of|decreased number of Example: [E=hand Q=has_fewer_parts_of_type E2=digit] - applies to an organism that has no less fingers than is normal for organisms of that type. PATO:0001569 quality owl:Class CHEBI:17996 biolink:NamedThing chloride A halide anion formed when chlorine picks up an electron to form an an anion. tmpxe7fu0cj_hp_relaxed.owl chloride(1-)|Chloride|chloride|Cl-|Cl(-)|Chloride(1-)|Chlorine anion|CHLORIDE ION|Chloride ion -1 Cl InChI=1S/ClH/h1H/p-1 VEXZGXHMUGYJMC-UHFFFAOYSA-M 35.45270 34.96940 [Cl-] Gmelin:14910|KEGG:C00698|PDBeChem:CL|KEGG:C00115|UM-BBD_compID:c0884|Beilstein:3587171|CAS:16887-00-6 CHEBI:13970|CHEBI:3616|CHEBI:13291|CHEBI:48804|CHEBI:3731 chebi_ontology owl:Class GO:0045982 biolink:NamedThing negative regulation of purine nucleobase metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving purine nucleobases. tmpxe7fu0cj_hp_relaxed.owl down-regulation of purine base metabolic process|negative regulation of purine base metabolism|negative regulation of purine base metabolic process|downregulation of purine base metabolic process|inhibition of purine base metabolic process|down regulation of purine base metabolic process biological_process owl:Class GO:0006144 biolink:NamedThing purine nucleobase metabolic process The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. tmpxe7fu0cj_hp_relaxed.owl purine base metabolic process|purine metabolism|purine base metabolism|purine metabolic process biological_process owl:Class GO:0002250 biolink:NamedThing adaptive immune response An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). tmpxe7fu0cj_hp_relaxed.owl acquired immune response|immune memory response Wikipedia:Adaptive_immune_system biological_process owl:Class GO:0003682 biolink:NamedThing chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. tmpxe7fu0cj_hp_relaxed.owl nuclear membrane vesicle binding to chromatin|lamin/chromatin binding|microtubule/chromatin interaction molecular_function owl:Class HP:0000391 biolink:NamedThing Thickened helices Increased thickness of the helix of the ear. tmpxe7fu0cj_hp_relaxed.owl Thick helix UMLS:C1837732 owl:Class N3c7e3016ebb24ddeb8cd24b2eec3a5c6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:76042 biolink:NamedThing aromatic amino-acid zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any aromatic amino-acid. tmpxe7fu0cj_hp_relaxed.owl aromatic amino-acid zwitterions|an aromatic amino-acid 0 C2H4NO2R 74.059 74.02420 [NH3+]C([*])C([O-])=O MetaCyc:Aromatic-Amino-Acids chebi_ontology owl:Class HP:0002682 biolink:NamedThing Broad skull Increased width of the skull. tmpxe7fu0cj_hp_relaxed.owl Broad skull|Wide cranium|Wide skull|Increased width of skull|Broad cranium|Increased width of cranium UMLS:C0424693|SNOMEDCT_US:248374004 human_phenotype owl:Class Neae4ce3611f741be8c8fd4e033cd0b8e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007980 biolink:NamedThing Absent retinal pigment epithelium tmpxe7fu0cj_hp_relaxed.owl UMLS:C1852548 human_phenotype owl:Class N06a73ac0d0a3417caf12373cac40373f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002690 biolink:NamedThing Large sella turcica An abnormal enlargement of the sella turcica. tmpxe7fu0cj_hp_relaxed.owl Big sella turcica|Hyperplasia of pituitary fossa|Prominent sella turcica|Hyperplasia of sella turcica|Enlarged sella turcica|Large hypophysial fossa|Hyperplasia of hypophysial fossa|Large pituitary fossa UMLS:C1843677|UMLS:C4072845|UMLS:C4072846 HP:0005444 human_phenotype owl:Class Ne0a27e6a93934b4c9bac2b3f223eeb14 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010193 biolink:NamedThing Duplication of distal phalanx of toe A partial or complete duplication of one or more distal phalanx of toe. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the distal phalanges of the toes|Duplication of outermost bone of toe UMLS:C4021322 doelkens 2009-05-29T01:52:41Z human_phenotype owl:Class Na014af77cd6046be8c1d0ed61b8bc4c4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0099083 biolink:NamedThing retrograde trans-synaptic signaling by neuropeptide, modulating synaptic transmission Modulation of synaptic transmittion by cell-cell signaling across the synaptic cleft from postsynapse to presynapse, mediated by a neuropeptide. tmpxe7fu0cj_hp_relaxed.owl Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua. biological_process owl:Class Nfe74d17e32354fcf9d23d1db60b72161 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0015872 biolink:NamedThing dopamine transport The directed movement of dopamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Dopamine is a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100700 biolink:NamedThing Abnormal arachnoid mater morphology An abnormality of the Arachnoid mater. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the arachnoid mater|Abnormality of the arachnoidea UMLS:C4020955 doelkens 2011-03-31T12:43:27Z human_phenotype owl:Class N6c7f0d1033734466a0e8f37a729d294a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0200065 biolink:NamedThing Chorioretinal degeneration tmpxe7fu0cj_hp_relaxed.owl UMLS:C0521683|SNOMEDCT_US:247177004 sebastiankohler 2013-05-31T01:29:16Z HP:0007945|HP:0007912 human_phenotype owl:Class Nc00ce0b22b5c4d1aa08959fb6357662f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1903292 biolink:NamedThing protein localization to Golgi membrane A process in which a protein is transported to, or maintained in, a location within a Golgi membrane. tmpxe7fu0cj_hp_relaxed.owl protein localization in Golgi membrane|protein localisation to Golgi membrane|protein localisation in Golgi membrane mah 2014-08-12T14:22:31Z biological_process owl:Class GO:0048732 biolink:NamedThing gland development The process whose specific outcome is the progression of a gland over time, from its formation to the mature structure. A gland is an organ specialised for secretion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:2000138 biolink:NamedThing positive regulation of cell proliferation involved in heart morphogenesis Any process that activates or increases the frequency, rate or extent of cell proliferation involved in heart morphogenesis. tmpxe7fu0cj_hp_relaxed.owl dph 2010-09-29T12:43:57Z biological_process owl:Class N2f367b0bf67542b7bbe7b9aa19d1fa6f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0015006 biolink:NamedThing polymeric A quality inhering in a structure by virtue of it consisting of many of repeated, similar or identical subunits, arranged in some orderly array. tmpxe7fu0cj_hp_relaxed.owl A complete coverage of this domain would subclasses homopolymeric, copolymeric, crystalline. quality owl:Class HP:0100507 biolink:NamedThing Reduced blood folate concentration A reduced circulating concentration of folic acid, which is also known as vitamin B9. tmpxe7fu0cj_hp_relaxed.owl Folate deficiency|Vitamin B9 deficiency MSH:D005494|UMLS:C0016412|SNOMEDCT_US:190633005 doelkens 2010-12-17T06:13:04Z human_phenotype owl:Class Ne905cb0e12ba4fcaab85accfc56431fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N909c9cb3c4b8487cac4d8dc041d15adf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000073 biolink:NamedThing Ureteral duplication A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. tmpxe7fu0cj_hp_relaxed.owl Double ureter SNOMEDCT_US:49496001|UMLS:C0221365 owl:Class Nf907866f5ac8470cb71fe24365ca3e5f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:32507 biolink:NamedThing glycinium An alpha-amino-acid cation that is the conjugate acid of glycine, arising from protonation of the amino. tmpxe7fu0cj_hp_relaxed.owl glycinium|glycine cation|NH3(+)-CH2-COOH|H2gly(+)|carboxymethanaminium +1 C2H6NO2 InChI=1S/C2H5NO2/c3-1-2(4)5/h1,3H2,(H,4,5)/p+1 DHMQDGOQFOQNFH-UHFFFAOYSA-O 76.07458 76.03930 [NH3+]CC(O)=O Gmelin:323509 chebi_ontology owl:Class GO:0044091 biolink:NamedThing membrane biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a membrane. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0060231 biolink:NamedThing mesenchymal to epithelial transition A transition where a mesenchymal cell establishes apical/basolateral polarity, forms intercellular adhesive junctions, synthesizes basement membrane components and becomes an epithelial cell. tmpxe7fu0cj_hp_relaxed.owl epithelial cell differentiation from mesenchymal cell|mesenchymal-epithelial transition biological_process owl:Class Nfd8d16b26ab04e969b5759bf8668c53e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0051674 biolink:NamedThing localization of cell Any process in which a cell is transported to, and/or maintained in, a specific location. tmpxe7fu0cj_hp_relaxed.owl establishment and maintenance of localization of cell|cell localization|localisation of cell|establishment and maintenance of cell localization biological_process owl:Class HP:0000458 biolink:NamedThing Anosmia An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. tmpxe7fu0cj_hp_relaxed.owl Lost smell|Loss of smell SNOMEDCT_US:44169009|MSH:D000857|UMLS:C0003126 owl:Class Nd60f5ba18f7140dbb7530dddae6a3e2c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003300 biolink:NamedThing Ovoid vertebral bodies When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. tmpxe7fu0cj_hp_relaxed.owl Oval vertebral bodies|Ovoid vertebrae|Ovoid-shaped vertebral bodies|Bullet vertebral body UMLS:C1855665|UMLS:C4020844 HP:0004559 human_phenotype owl:Class N79b1707e156f4999ba40ff75f6e9783a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008434 biolink:NamedThing Hypoplastic cervical vertebrae tmpxe7fu0cj_hp_relaxed.owl Cervical vertebrae hypoplasia|Underdeveloped cervical vertebrae UMLS:C1835570 HP:0008415 human_phenotype owl:Class N82b0d4f3dc544451beaac5b098046fc6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:32970 biolink:NamedThing 2-aminoethanesulfonate A 1,1-diunsubstituted alkanesulfonate that is ethanesulfonate substituted by an amino group at position 2. tmpxe7fu0cj_hp_relaxed.owl 2-aminoethanesulfonate -1 C2H6NO3S InChI=1S/C2H7NO3S/c3-1-2-7(4,5)6/h1-3H2,(H,4,5,6)/p-1 XOAAWQZATWQOTB-UHFFFAOYSA-M 124.13998 124.00739 NCCS([O-])(=O)=O Beilstein:3588289|Reaxys:3588289 chebi_ontology owl:Class Na595a952f36248afa5061d446ddca508 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014503 biolink:NamedThing proximal phalanx of digit 3 A proximal phalanx that is part of a autopod digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal phalanx of third digit|proximal phalanx of 3rd digit|proximal phalanx of digit III|3rd digit proximal phalanx|proximal phalanx of middle digit|digit III-1|proximal phalanx of third digit of autopod|digit III P1|proximal phalanx of 3rd digit of autopod|third proximal phalanx of autopod|3rd digit of autopod proximal phalanx|third digit proximal phalanx|autopod digit 3 proximal phalanx uberon owl:Class HP:0009241 biolink:NamedThing Bullet-shaped distal phalanx of the 5th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped outermost pinkie finger bone|Bullet-shaped outermost pinky finger bone|Bullet-shaped outermost little finger bone UMLS:C4024505 doelkens 2009-01-05T07:25:50Z human_phenotype owl:Class N90911fa9d9994d248de95454e1f69935 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0010694 biolink:NamedThing positive regulation of alkaline phosphatase activity Any process that increases the frequency, rate or extent of alkaline phosphatase activity, the catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0015871 biolink:NamedThing facial lymph node Any of the lymph nodes that are part of a face. tmpxe7fu0cj_hp_relaxed.owl buccal lymph node FMA:61222 uberon owl:Class In humans, these comprise three groups: (a) infraorbital or maxillary, scattered over the infraorbital region from the groove between the nose and cheek to the zygomatic arch; (b) buccinator, one or more placed on the Buccinator opposite the angle of the mouth; (c) supramandibular, on the outer surface of the mandible, in front of the Masseter and in contact with the external maxillary artery and anterior facial vein. HP:0430005 biolink:NamedThing Abnormality of ethmoid bone An abnormality of the ethmoid bone tmpxe7fu0cj_hp_relaxed.owl Anomaly of the ethmoid bone|Deformity of the ethmoid bone|Malformation of the ethmoid bone UMLS:C4021869 owl:Class N2b13268e794e421990cce6a23f977b29 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:33710 biolink:NamedThing alpha-amino-acid residue tmpxe7fu0cj_hp_relaxed.owl alpha-amino-acid residues chebi_ontology owl:Class Nf42c14b9083548c2accb7b4d3ecd9df6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1902037 biolink:NamedThing negative regulation of hematopoietic stem cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic stem cell differentiation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of haemopoietic stem cell differentiation|downregulation of haematopoietic stem cell differentiation|downregulation of haemopoietic stem cell differentiation|downregulation of hematopoietic stem cell differentiation|inhibition of hemopoietic stem cell differentiation|negative regulation of hemopoietic stem cell differentiation|inhibition of hematopoietic stem cell differentiation|down regulation of hematopoietic stem cell differentiation|downregulation of hemopoietic stem cell differentiation|down-regulation of haemopoietic stem cell differentiation|down-regulation of haematopoietic stem cell differentiation|inhibition of haematopoietic stem cell differentiation|down regulation of hemopoietic stem cell differentiation|negative regulation of haematopoietic stem cell differentiation|down-regulation of hemopoietic stem cell differentiation|down regulation of haematopoietic stem cell differentiation|down-regulation of hematopoietic stem cell differentiation|down regulation of haemopoietic stem cell differentiation|inhibition of haemopoietic stem cell differentiation ss 2013-04-02T05:19:14Z biological_process owl:Class GO:0060218 biolink:NamedThing hematopoietic stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a hematopoietic stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. tmpxe7fu0cj_hp_relaxed.owl hemopoietic stem cell differentiation|haemopoietic stem cell differentiation|haematopoietic stem cell differentiation biological_process owl:Class UBERON:0010850 biolink:NamedThing tibia pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a tibia. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0002036 uberon owl:Class HP:0002737 biolink:NamedThing Thick skull base tmpxe7fu0cj_hp_relaxed.owl Increased thickness of bone of skull base|Thick skull base|Increased thickness of skull base UMLS:C1839507 human_phenotype owl:Class N1dd1ed974e6b4d9a813f3ec849c659f2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006211 biolink:NamedThing buccopharyngeal membrane The thin bilaminar membrane derived from the prechordal plate that is devoid of mesoderm and formed by the apposition of the stomodeal ectoderm with the foregut endoderm; after the embryonic head fold has evolved it lies at the caudal limit of the stomodeum, forming a septum between the primitive mouth and pharynx; the membrane eventually disappears, and thus a communication is established between the mouth and the future pharynx. tmpxe7fu0cj_hp_relaxed.owl pharyngeal membrane|oral plate|oropharyngeal membrane|oral membrane SCTID:361412007|Wikipedia:Buccopharyngeal_membrane|VHOG:0000380|EMAPA:16259|FMA:313607|EHDAA2:0000189|EHDAA:536 http://upload.wikimedia.org/wikipedia/commons/9/93/Gray977.png uberon owl:Class HP:0010664 biolink:NamedThing Fusion of the left and right thalami A developmental defect characterized by fusion of the left and right halves of the thalamus. tmpxe7fu0cj_hp_relaxed.owl Fused thalami|Undivided thalami|Fusion of thamali UMLS:C1834930|UMLS:C4020769 peter 2010-02-26T08:04:37Z human_phenotype owl:Class N2a20f0667c564aa6b7c7b7c684f6cc9e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005040 biolink:NamedThing mucosa of terminal bronchiole A mucosa that is part of a terminal bronchiole [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl terminal bronchiole mucous membrane|terminal bronchiole mucosa|bronchiolus terminalis mucosa|bronchiolus terminalis mucosa of organ|bronchiolus terminalis mucous membrane|mucous membrane of bronchiolus terminalis|bronchiolus terminalis organ mucosa|organ mucosa of terminal bronchiole|terminal bronchiole organ mucosa|mucosa of organ of bronchiolus terminalis|mucosa of bronchiolus terminalis|mucosa of organ of terminal bronchiole|mucous membrane of terminal bronchiole|terminal bronchiole mucosa of organ|organ mucosa of bronchiolus terminalis FMA:263232 uberon owl:Class GO:1901859 biolink:NamedThing negative regulation of mitochondrial DNA metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial DNA metabolic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of mitochondrial DNA metabolism|down regulation of mtDNA metabolic process|inhibition of mitochondrial DNA metabolic process|downregulation of mitochondrial DNA metabolic process|down regulation of mitochondrial DNA metabolism|down-regulation of mtDNA metabolism|inhibition of mitochondrial DNA metabolism|down-regulation of mitochondrial DNA metabolic process|downregulation of mitochondrial DNA metabolism|inhibition of mtDNA metabolic process|down-regulation of mtDNA metabolic process|down regulation of mtDNA metabolism|inhibition of mtDNA metabolism|down-regulation of mitochondrial DNA metabolism|downregulation of mtDNA metabolism|negative regulation of mtDNA metabolic process|down regulation of mitochondrial DNA metabolic process|downregulation of mtDNA metabolic process|negative regulation of mtDNA metabolism yaf 2013-02-01T10:05:09Z biological_process owl:Class HP:0010419 biolink:NamedThing Symphalangism affecting the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Fused outermost bone of the 2nd toe UMLS:C4023837 doelkens 2009-07-16T12:44:41Z human_phenotype owl:Class Na6c795963cc84616a3fa21f26f7bda46 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:33551 biolink:NamedThing organosulfonic acid An organic derivative of sulfonic acid in which the sulfo group is linked directly to carbon. tmpxe7fu0cj_hp_relaxed.owl organosulfonic acids|sulfonic acids 0 HO3SR 81.07100 80.96464 OS([*])(=O)=O chebi_ontology owl:Class HP:0430017 biolink:NamedThing Abnormality of uvular muscle An abnormality of the uvular muscle tmpxe7fu0cj_hp_relaxed.owl Abnormality of musculus uvulae UMLS:C4073199 owl:Class Nc7d7f3bc7daf491383d39a27dd072571 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neba2d3a9d74b4c11bc5dcdd411b0e321 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007264 biolink:NamedThing intervertebral disk of seventh cervical vertebra An intervertebral disk that connects a thoracic vertebra and connects a mammalian cervical vertebra 7. tmpxe7fu0cj_hp_relaxed.owl intervertebral disk, C7-T1 FMA:13900|EMAPA:19463 uberon owl:Class UBERON:0004616 biolink:NamedThing mammalian cervical vertebra 7 Vertebra prominens is the proper name for the seventh cervical vertebra. The most distinctive characteristic of this vertebra is the existence of a long and prominent spinous process which is palpable from the skin surface, hence the name. This spinous process is thick, nearly horizontal in direction, not bifurcated, but terminating in a tubercle to which the lower end of the ligamentum nuchae is attached. The seventh cervical vertebra (C7) has the most prominent spinous process only in about 70% of people; in the remainder, either C6 or T1 (the first thoracic vertebra) will be the most prominent. The transverse processes are of considerable size, their posterior roots are large and prominent, while the anterior are small and faintly marked; the upper surface of each has usually a shallow sulcus for the eighth spinal nerve, and its extremity seldom presents more than a trace of bifurcation. The foramen transversarium may be as large as that in the other cervical vertebrae, but is generally smaller on one or both sides; occasionally it is double, sometimes it is absent. On the left side it occasionally gives passage to the vertebral artery; more frequently the vertebral vein traverses it on both sides; but the usual arrangement is for both artery and vein to pass in front of the transverse process, and not through the foramen. Sometimes the anterior root of the transverse process attains a large size and exists as a separate bone, which is known as a cervical rib. tmpxe7fu0cj_hp_relaxed.owl prominent vertebra|seventh cervical vertebra|C7 vertebra|cervical vertebra 7|vertebra prominens (CVII)|vertebra prominens [C VII] EMAPA:19467|UMLS:C0223176|MA:0001427|NCIT:C32245|FMA:12525 elements are to be defined spatially/topologically. all mammals have 7 cervical vertebrae uberon owl:Class 7 GO:0051668 biolink:NamedThing localization within membrane Any process in which a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a membrane. tmpxe7fu0cj_hp_relaxed.owl establishment and maintenance of localization in membrane|positioning within membrane|establishment and maintenance of position in membrane|localisation within membrane|localization to membrane biological_process owl:Class UBERON:0004263 biolink:NamedThing upper arm skin A zone of skin that is part of a forelimb stylopod [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl arm stylopod skin|skin of upper arm|skin of arm stylopod MA:0000608|EMAPA:18062|FMA:37721 uberon owl:Class UBERON:0002063 biolink:NamedThing sinus venosus The sinus venosus is a large cardiac chamber at the inflow tract that receives venous blood from systemic circulation. precedes the atrium on the venous side of the chordate heart. tmpxe7fu0cj_hp_relaxed.owl venosus|venarum|sinus venarum|sinus venosus cordis|inflow tract|venarum sinus EHDAA2:0001839|NCIT:C34299|FMA:70303|EHDAA:480|UMLS:C0225857|UMLS:C0231084|NCIT:C34300|ZFA:0000154|TAO:0000154|AAO:0010505|Wikipedia:Sinus_venosus|VHOG:0000177|EMAPA:16237 http://upload.wikimedia.org/wikipedia/commons/c/c7/Gray465.png uberon owl:Class Heart region collecting blood from the paired common cardinal veins and delivering to the atrium. One of four components of the heart. The sinus venosus also acts as a pacemaker and is the first to contract. Kimmel et al, 1995.[TAO]|Part of the circulatory system which receives blood from the systemic veins and contracts to pump the blood into the atrium of the heart.[AAO] In the primitive vertebrate heart the four chambers are: 1. Sinus venosus (...) 2. Atrium (...) 3. Ventricle (...) 4. Conus arteriosus (...).[well established][VHOG] In zebrafish, the sinus venosus also acts as a pacemaker and is the first to contract|In fish, receives venous blood from the systemic circulation through paired hepatic veins, anterior jugular veins and Cuvierian ducts[PMID:20735616]|In humans, it exists distinctly only in the embryonic heart, where it is found between the two venae cavae. In the adult, it is incorporated into the wall of the right atrium to form a smooth part called the sinus venarum, also known as the venarum sinus, which is separated from the rest of the atrium by a ridge of fibres called the crista terminalis. The sinus venosus also forms the SA node and the coronary sinus. In the embryo, the thin walls of the sinus venosus are connected below with the right ventricle, and medially with the left atrium, but are free in the rest of their extent. It receives blood from the vitelline vein, umbilical vein and common cardinal vein. It originally starts as a paired structure but shifts towards associating only with the right atrium as the embryonic heart develops. The left portion shrinks in size and eventually forms the coronary sinus and oblique vein of the left atrium, whereas the right part becomes incorporated into the right atrium to form the sinus venarmu UBERON:0007278 biolink:NamedThing presumptive sinus venosus Portion of tissue that is part of the heart tube and will become the sinus venosus. tmpxe7fu0cj_hp_relaxed.owl TAO:0002234|ZFA:0001722 uberon owl:Class HP:0001733 biolink:NamedThing Pancreatitis The presence of inflammation in the pancreas. tmpxe7fu0cj_hp_relaxed.owl Pancreatic inflammation SNOMEDCT_US:75694006|MSH:D010195|UMLS:C0030305 human_phenotype owl:Class N907774abac26421cbfc654ceba020f5f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000233 biolink:NamedThing platelet A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation. tmpxe7fu0cj_hp_relaxed.owl blood platelet|enucleate thrombocyte|anucleate thrombocyte CALOHA:TS-0803|BTO:0000132|FMA:62851 Platelets are reportedly CCR1-positive, CCR2-negative, CCR3-positive, CCR4-positive, CCR5-negative, CCR6-negative, CCR7-negative, CCR8-negative, CCR9-negative, CCR10-negative, CD16-positive, CD23-positive, CD32-positive, CD40-positive, CD41-positive CD42-positive, CD61-positive, CD62P-positive, CD64-positive, CD89-positive, CD102-positive, CD147-positive (activated platelets), CD154-positive (activated platelets), CD162-positive, CD209, CD282-positive, CD284-positive, CD289-positive, CD181-negative, CD182-negative, CD183-negative, CD184-positive, CLEC2-positive, GPVI-positive, JAMC-positive, PAR1-positive, PAR2-negative, PAR3-positive, PAR4-positive, TSP1-positive, and TXA2R-positive. Platelets can reportedly produce CCL2, CCL3, CCL5, CCL7, CCL17, CD40L, CXCL1, CXCL4, CXCL4L1, CXCL5, CXCL7, CXCL8, CXCL12, EGF, factor V, factor VII, factor XI, factor XIII, bFGF, histamine, IGF-1, IL-1beta, PAI-1, PDGF, plasminogen, protein S, serotonin, TGF-beta, TFPI, VEGF, and vWF. cell owl:Class UBERON:0001361 biolink:NamedThing femoral vein In the human body, the femoral vein is a blood vessel that accompanies the femoral artery in the femoral sheath. It begins at the adductor canal (also known as Hunter's canal) and is a continuation of the popliteal vein. It ends at the inferior margin of the inguinal ligament, where it becomes the external iliac vein. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl vena femoralis GAID:533|MA:0002118|FMA:21185|galen:FemoralVein|AAO:0010237|OpenCyc:Mx4rwFXTLJwpEbGdrcN5Y29ycA|NCIT:C12716|MESH:D005268|UMLS:C0015809|EMAPA:17876 uberon owl:Class Either of the primary veins in the hindlimbs which collect blood from the hindlimb region.[AAO] HP:0007430 biolink:NamedThing Generalized edema Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. tmpxe7fu0cj_hp_relaxed.owl Generalised oedema|Generalized tissue edema|Generalised tissue oedema SNOMEDCT_US:271808008|UMLS:C1850534 HP:0007575 human_phenotype owl:Class Nf7977f33d31a43f3b20cc73a629385f6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012446 biolink:NamedThing Decreased CSF 5-methyltetrahydrofolate concentration A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite. tmpxe7fu0cj_hp_relaxed.owl Cerebral folate deficiency|Low CSF 5-methyltetrahydrofolate|Reduced CSF 5-methyltetrahydrofolate concentration UMLS:C4022901|UMLS:C2751584|SNOMEDCT_US:711403001|MSH:C567791 peter 2013-11-23T03:40:41Z HP:0012336 owl:Class N9f37189e9e1c436fb9ce9940c8a36a9b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:29016 biolink:NamedThing arginine An alpha-amino acid that is glycine in which the alpha-is substituted by a 3-guanidinopropyl group. tmpxe7fu0cj_hp_relaxed.owl 2-Amino-5-guanidinovaleric acid|2-amino-5-(carbamimidamido)pentanoic acid|Harg|Arginine|2-amino-5-guanidinopentanoic acid|Arginin|arginine 0 C6H14N4O2 InChI=1S/C6H14N4O2/c7-4(5(11)12)2-1-3-10-6(8)9/h4H,1-3,7H2,(H,11,12)(H4,8,9,10) ODKSFYDXXFIFQN-UHFFFAOYSA-N 174.20112 174.11168 NC(CCCNC(N)=N)C(O)=O Reaxys:1725411|Wikipedia:L-Arginine|CAS:7200-25-1|KEGG:C02385|PMID:10848923|Beilstein:1725411 CHEBI:2643|CHEBI:22616 chebi_ontology owl:Class UBERON:0008243 biolink:NamedThing upper back muscle A muscle of back that is part of a dorsal thoracic segment of trunk. tmpxe7fu0cj_hp_relaxed.owl SCTID:305071003|EMAPA:37261|MA:0000508 uberon owl:Class GO:1900120 biolink:NamedThing regulation of receptor binding Any process that modulates the frequency, rate or extent of a protein or other molecule binding to a receptor. tmpxe7fu0cj_hp_relaxed.owl regulation of receptor ligand bf 2012-02-22T11:40:53Z biological_process owl:Class UBERON:0009196 biolink:NamedThing indifferent external genitalia tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004021 uberon owl:Class Nf5ac6616b12f413abde9bed34c30ffd7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005580 biolink:NamedThing Duplication of renal pelvis A duplication of the renal pelvis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839269 human_phenotype owl:Class N2cc941a8211649728ed2407e1908faf1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000078 biolink:NamedThing mixed ectoderm/mesoderm/endoderm-derived structure An anatomical structure that develops from the ectoderm, mesoderm and endoderm. tmpxe7fu0cj_hp_relaxed.owl Grouping term for query purposes. Notes that the developmental relationships are being refined such that most structures should develop in whole from at most one layer, but may have contributions from multiple uberon owl:Class UBERON:0006072 biolink:NamedThing cervical region of vertebral column That portion of the spine comprising the cervical vertebrae. The neck area of the spine. tmpxe7fu0cj_hp_relaxed.owl cervical vertebral column|cervical vertebrae series|cervical spine|cervical spinal column|cervical skeleton|skeletal system of neck|axial skeleton cervical region AAO:0000092|UMLS:C0728985|EMAPA:17215|FMA:24138|MA:0003154|EHDAA2:0000238|BTO:0004148|NCIT:C69313|EHDAA:5051 uberon owl:Class Anterior region of the vertebral column consisting of one to 19 or 20 vertebrae.[AAO] UBERON:0034714 biolink:NamedThing epiphyseal tract A cranial nerve fiber tract that innervates the parietal eye. tmpxe7fu0cj_hp_relaxed.owl epiphyseal nerve This should be classified as an evaginated sensory afferents rather than cranial nerves, as they are part of the CNS[ISBN:0471888893] uberon owl:Class UBERON:0004869 biolink:NamedThing parietal organ A part of the epithalamus present in some animal species. The eye may be photoreceptive and is usually associated with the pineal gland, regulating circadian rhythmicity and hormone production for thermoregulation. The parietal eye is a part of the epithalamus, which can be divided into two major parts; the epiphysis (the pineal organ, or pineal gland if mostly endocrine) and the parietal organ (often called the parietal eye, or third eye if it is photoreceptive). It arises as an anterior evagination of the pineal organ or as a separate outgrowth of the roof of the diencephalon. In some species, it protrudes through the skull.[4] The parietal eye uses a different biochemical method of detecting light than rod cells or cone cells in a normal vertebrate eye[WP]. tmpxe7fu0cj_hp_relaxed.owl third eye|parietal eye uberon owl:Class PR:000030026 biolink:NamedThing CALCA gene translation product (human) A CALCA gene translation product that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl calcitonin gene-related peptide I (human)|CALC1 (human)|alpha-type CGRP (human)|CGRP-I (human)|hCALCA Category=organism-gene. protein owl:Class HP:0000282 biolink:NamedThing Facial edema tmpxe7fu0cj_hp_relaxed.owl Facial puffiness|Facial oedema|Facial swelling UMLS:C0542571|SNOMEDCT_US:445088006 human_phenotype owl:Class N8407989b3fe0403ebb8f4a4659c8f6a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8aca5532f8c14b8c8d6122d2f6ea84a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N17ecc06397774d2199337306435aceaf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011085 biolink:NamedThing palatoquadrate arch The dorsal portion of the first pharyngeal arch, comprising the upper jaw[ZFIN,VHOG]. tmpxe7fu0cj_hp_relaxed.owl dorsal mandibular arch|upper jaw|dorsal visceral arch 1|upper pharyngeal jaw|palatoquadrate arch|dorsal pharyngeal arch 1 ZFA:0001272|EFO:0003659|VHOG:0000511|TAO:0001272 uberon owl:Class Subsequent vertebrate evolution has also involved major alterations to the pharynx; perhaps the most notable occurred with the evolution of the gnathostomes. This involved substantial modifications to the most anterior pharyngeal segments, with the jaw forming from the first, anterior, pharyngeal segment, while the second formed its supporting apparatus, the hyoid.[well established][VHOG] GO:0014047 biolink:NamedThing glutamate secretion The controlled release of glutamate by a cell. The glutamate is the most abundant excitatory neurotransmitter in the nervous system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0003215 biolink:NamedThing cardiac right ventricle morphogenesis The process in which the right cardiac ventricle is generated and organized. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T09:50:57Z biological_process owl:Class HP:0005959 biolink:NamedThing Impaired gluconeogenesis An impairment of gluconeogenesis. tmpxe7fu0cj_hp_relaxed.owl Gluconeogenesis impaired UMLS:C3279336 human_phenotype owl:Class N391fcb55ea5b424a9a2b6783b4dac316 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:13850 biolink:NamedThing apoprotein An apoprotein is a protein devoid of its characteristic prosthetic group or metal. tmpxe7fu0cj_hp_relaxed.owl apoprotein|apoproteins KEGG:C16240 chebi_ontology owl:Class UBERON:0010366 biolink:NamedThing conjunctival vasculature A vasculature that is part of a conjunctiva. tmpxe7fu0cj_hp_relaxed.owl venae conjunctivales|conjunctival veins|set of conjunctival veins|conjunctival veins set FMA:70887 uberon owl:Class Ndf2bcd8356874d17bc6369016ce3dc45 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0022037 biolink:NamedThing metencephalon development The process whose specific outcome is the progression of the metencephalon over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100529 biolink:NamedThing Abnormal blood phosphate concentration An abnormality of phosphate homeostasis or concentration in the body. tmpxe7fu0cj_hp_relaxed.owl Abnormality of phosphate homeostasis UMLS:C4022032 doelkens 2010-12-20T11:58:32Z human_phenotype owl:Class Nd866ce3f46fa4925a8593bbfb9857328 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007732 biolink:NamedThing interphalangeal joint of manual digit 5 An interphalangeal joint of manus that is part of a manual digit 5. tmpxe7fu0cj_hp_relaxed.owl interphalangeal joint of fifth digit of hand|interphalangeal joint of manual digit V|interphalangeal joint of fifth finger|interphalangeal joint of little finger EMAPA:25070|FMA:35407 uberon owl:Class HP:0200102 biolink:NamedThing Sparse or absent eyelashes tmpxe7fu0cj_hp_relaxed.owl Partial to total absence of eyelashes|Sparse to absent eyelashes|Sparse or absent eyelashes UMLS:C1862855|UMLS:C3551431|UMLS:C1835157 sebastiankohler 2013-06-05T12:03:01Z human_phenotype owl:Class N0746f2aafd3d430f9cf67accc710c5c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0022360 biolink:NamedThing male mammary gland duct A mammary gland duct that is part of a male organism. This structure typically regresses. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0008219 biolink:NamedThing cell death Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). tmpxe7fu0cj_hp_relaxed.owl necrosis|accidental cell death This term should not be used for direct annotation. The only exception should be when experimental data (e.g., staining with trypan blue or propidium iodide) show that cell death has occurred, but fail to provide details on death modality (accidental versus programmed). When information is provided on the cell death mechanism, annotations should be made to the appropriate descendant of 'cell death' (such as, but not limited to, GO:0097300 'programmed necrotic cell death' or GO:0006915 'apoptotic process'). Also, if experimental data suggest that a gene product influences cell death indirectly, rather than being involved in the death process directly, consider annotating to a 'regulation' term. biological_process owl:Class GO:0014888 biolink:NamedThing striated muscle adaptation Any process in which striated muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. These adaptive events occur in both muscle fibers and associated structures (motoneurons and capillaries), and they involve alterations in regulatory mechanisms, contractile properties and metabolic capacities. tmpxe7fu0cj_hp_relaxed.owl striated muscle plasticity biological_process owl:Class N4179ac4092394b989de8a2b224a5030a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf3122591532f44669ace6d32d18c9f3c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006283 biolink:NamedThing future cardiac ventricle Multi-tissue structure that is part of the heart tube and will become the cardiac ventricle. tmpxe7fu0cj_hp_relaxed.owl future heart ventricle|primitive ventricle of heart|primordial ventricle|primitive ventricle|presumptive cardiac ventricle heart tube|early heart ventricle|embryonic ventricle|primordial cardiac ventricle|embryonic heart ventricle NCIT:C34160|SCTID:361524003|ZFA:0001719|EMAPA:16350|EHDAA2:0001531|FMA:71006|TAO:0002231|Wikipedia:Embryonic_ventricle The embryonic ventricle or primitive ventricle of the developing heart gives rise to the trabeculated parts of the left and right ventricles. In contrast, the smooth parts of the left and right ventricles originate from the embryological bulbus cordis. The primitive ventricle becomes divided by a septum, the septum inferius or ventricular septum, which grows upward from the lower part of the ventricle, its position being indicated on the surface of the heart by a furrow. Its dorsal part increases more rapidly than its ventral portion, and fuses with the dorsal part of the septum intermedium. For a time an interventricular foramen exists above its ventral portion, but this foramen is ultimately closed by the fusion of the aortic septum with the ventricular septum[WP] UBERON:0010226 uberon owl:Class UBERON:0014485 biolink:NamedThing distal phalanx of digit 3 A distal phalanx that is part of a digit 3. In odd-toes ungulates (Perissodactyla e.g. horses) this is called the coffin bone. In even-toed ungulates (Artiodactyla e.g cattle) this is associated with the medial claw. tmpxe7fu0cj_hp_relaxed.owl digit III P3|pedal bone|distal phalanx of middle digit|3rd digit distal phalanx|distal phalanx of 3rd digit|distal phalanx of digit III|equine 3rd phalanx of digit 3|third digit distal phalanx|medial claw of ruminant hoof|medial ungual phalanx of artiodactyl|distal phalanx of third digit|digit 3 distal phalanx|equine distal phalanx|third distal phalanx|medial claw of artiodactyl|coffin bone uberon owl:Class the bottommost bone in the equine leg and is encased by the hoof capsule. The distal phalanx articulates with both the middle phalanx and the distal sesamoid, forming the distal interphalangeal joint[Wikipedia:Coffin_bone] GO:0044248 biolink:NamedThing cellular catabolic process The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl cellular breakdown|cellular degradation|cellular catabolism biological_process owl:Class Nc8b6ed3fb3f04a14adcf1d5d7ad8c62d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0031281 biolink:NamedThing Sialadenitis Inflammation of a salivary gland. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 17:06:09+00:00 peter owl:Class N95a0231754534d98a5af62f440a5f32d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0044060 biolink:NamedThing regulation of endocrine process Any process that modulates the frequency, rate or extent of an endocrine process, a process involving the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. tmpxe7fu0cj_hp_relaxed.owl regulation of endocrine system process biological_process owl:Class GO:0050886 biolink:NamedThing endocrine process The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. tmpxe7fu0cj_hp_relaxed.owl endocrine physiology|endocrine physiological process biological_process owl:Class CHEBI:33543 biolink:NamedThing sulfonate The sulfur oxoanion formed by deprotonation of sulfonic acid. tmpxe7fu0cj_hp_relaxed.owl [SHO3](-)|sulfonates|hydridotrioxidosulfate(1-)|SHO3(-) -1 HO3S InChI=1S/H2O3S/c1-4(2)3/h4H,(H,1,2,3)/p-1 BDHFUVZGWQCTTF-UHFFFAOYSA-M 81.07214 80.96519 [H]S([O-])(=O)=O Gmelin:971569 chebi_ontology owl:Class CHEBI:29214 biolink:NamedThing sulfonic acid tmpxe7fu0cj_hp_relaxed.owl HSHO3|sulphonic acid|acide sulfonique|[SHO2(OH)]|Sulfonsaeure|sulfonic acid|hydridohydroxidodioxidosulfur 0 H2O3S InChI=1S/H2O3S/c1-4(2)3/h4H,(H,1,2,3) BDHFUVZGWQCTTF-UHFFFAOYSA-N 82.08008 81.97247 [H]S(O)(=O)=O Gmelin:1404640 chebi_ontology owl:Class UBERON:0035927 biolink:NamedThing sulcus of parietal lobe tmpxe7fu0cj_hp_relaxed.owl parietal lobe sulci|PLs|parietal lobe sulcus HBA:9370 uberon owl:Class N4bcec60fbb36477abd3a39fd839ec60b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0005979 biolink:NamedThing regulation of glycogen biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0000293 biolink:NamedThing Full cheeks Increased prominence or roundness of soft tissues between zygomata and mandible. tmpxe7fu0cj_hp_relaxed.owl Increased size of cheeks|Puffy cheeks|Chubby cheeks|Hyperplasia of cheeks|Large cheeks|Full cheeks|Hypertrophy of cheeks|Apple cheeks|Big cheeks UMLS:C4280648|UMLS:C3806443|UMLS:C2748653|UMLS:C4280647|UMLS:C1866231 HP:0002262|HP:0004427 human_phenotype owl:Class N39c81c8c4799436496e89b2be483c5fe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010162 biolink:NamedThing Absent epiphyses of the toes Absence of the epiphyses of the phalanges of the toes. tmpxe7fu0cj_hp_relaxed.owl Absent end part of the toe bones UMLS:C4023997 doelkens 2009-05-29T01:34:06Z human_phenotype owl:Class N8330551e18d24ee0bcefbfc286bd5692 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002849 biolink:NamedThing Absence of lymph node germinal center Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses. tmpxe7fu0cj_hp_relaxed.owl Lymph nodes lack germinal centre|Absence of lymph node germinal centre|Lymphoid germinal center defect|Lymphoid germinal centre defect|Lymph nodes lack germinal center UMLS:C1847383 human_phenotype owl:Class N859c1edf769e433fb3d33f0dfae76c7a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:66924 biolink:NamedThing creatinate A monocarboxylic acid anion that is the conjugate base of creatine, obtained by deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl {[imino(amino)methyl](methyl)amino}acetate|N-[amino(imino)methyl]-N-methylglycinate|(N-methylcarbamimidamido)acetate -1 C4H8N3O2 InChI=1S/C4H9N3O2/c1-7(4(5)6)2-3(8)9/h2H2,1H3,(H3,5,6)(H,8,9)/p-1 CVSVTCORWBXHQV-UHFFFAOYSA-M 130.12520 130.06220 CN(CC([O-])=O)C(N)=N chebi_ontology owl:Class CHEBI:57947 biolink:NamedThing creatine zwitterion Zwitterionic form of creatine arising from transfer of a proton from the carboxy to the guanidino group; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl {[amino(iminio)methyl](methyl)amino}acetate|creatine 0 C4H9N3O2 InChI=1S/C4H9N3O2/c1-7(4(5)6)2-3(8)9/h2H2,1H3,(H3,5,6)(H,8,9) CVSVTCORWBXHQV-UHFFFAOYSA-N 131.13320 131.06948 CN(CC([O-])=O)C(N)=[NH2+] MetaCyc:CREATINE chebi_ontology owl:Class GO:0010923 biolink:NamedThing negative regulation of phosphatase activity Any process that decreases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:17196 biolink:NamedThing L-asparagine An optically active form of asparagine having L-configuration. tmpxe7fu0cj_hp_relaxed.owl (2S)-2-amino-3-carbamoylpropanoic acid|Aspartamic acid|(S)-Asparagine|(2S)-2,4-diamino-4-oxobutanoic acid|Asn|L-Asparagin|alpha-aminosuccinamic acid|L-2-aminosuccinamic acid|L-aspartic acid beta-amide|L-asparagine|2-Aminosuccinamic acid|(S)-2-amino-3-carbamoylpropanoic acid|N|L-Asparagine|ASPARAGINE 0 C4H8N2O3 InChI=1S/C4H8N2O3/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H2,6,7)(H,8,9)/t2-/m0/s1 DCXYFEDJOCDNAF-REOHCLBHSA-N 132.11800 132.05349 N[C@@H](CC(N)=O)C(O)=O PMID:16368161|Drug_Central:4126|PMID:22513289|PMID:16190636|PDBeChem:ASN|PMID:16668324|KEGG:C00152|Gmelin:3334|YMDB:YMDB00226|ECMDB:ECMDB00168|PMID:21854356|HMDB:HMDB0000168|Reaxys:1723527|Beilstein:1723527|KNApSAcK:C00001341|PMID:17497286|DrugBank:DB00174|CAS:70-47-3|Wikipedia:Asparagine|FooDB:FDB000787|PMID:21800258|PMID:12142634|MetaCyc:ASN|PMID:15907185 CHEBI:21242|CHEBI:40902|CHEBI:6191|CHEBI:13083 chebi_ontology owl:Class N9576b523d8024fd4aaf36a7fb6be1808 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:17759 biolink:NamedThing cholesta-5,7-dien-3beta-ol tmpxe7fu0cj_hp_relaxed.owl 5,7-cholestadien-3beta-ol|(3beta)-cholesta-5,7-dien-3-ol|Cholesta-5,7-dien-3beta-ol|cholesta-5,7-dien-3beta-ol|7-Dehydrocholesterol|5,7-cholestadien-3-beta-ol|7-dehydrocholesterol|Provitamin D3 0 C27H44O InChI=1S/C27H44O/c1-18(2)7-6-8-19(3)23-11-12-24-22-10-9-20-17-21(28)13-15-26(20,4)25(22)14-16-27(23,24)5/h9-10,18-19,21,23-25,28H,6-8,11-17H2,1-5H3/t19-,21+,23-,24+,25+,26+,27-/m1/s1 UCTLRSWJYQTBFZ-DDPQNLDTSA-N 384.63766 384.33922 [H][C@@]1(CC[C@@]2([H])C3=CC=C4C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)CCCC(C)C CAS:434-16-2|KNApSAcK:C00023747|LIPID_MAPS_instance:LMST01010069|KEGG:C01164|Gmelin:893079|Beilstein:2224615 CHEBI:23181|CHEBI:3658|CHEBI:13981 chebi_ontology owl:Class GO:0048705 biolink:NamedThing skeletal system morphogenesis The process in which the anatomical structures of the skeleton are generated and organized. tmpxe7fu0cj_hp_relaxed.owl skeletal morphogenesis biological_process owl:Class HP:0004180 biolink:NamedThing Short distal phalanx of the 3rd finger Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger. tmpxe7fu0cj_hp_relaxed.owl Short outermost bone of the middle finger|Hypoplastic/small distal phalanx of the 3rd finger|Short distal phalanx of the third finger|Short terminal phalanx of middle finger UMLS:C4021681 HP:0004182 human_phenotype owl:Class N6486944a21df488588d362892c8dbeb3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0025354 biolink:NamedThing Abnormal cellular phenotype An anomaly of cellular morphology or physiology. tmpxe7fu0cj_hp_relaxed.owl 2017-02-13 00:29:35+00:00 HPO:probinson owl:Class N2b384d398a7347b08355ea2d02ad70aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007142 biolink:NamedThing left internal carotid artery An internal carotid artery that branching_part_of a left common carotid artery plus branches. tmpxe7fu0cj_hp_relaxed.owl arteria caritis interna sinistra SCTID:161452006|FMA:4062|EMAPA:16329 uberon owl:Class HP:0006899 biolink:NamedThing Fusion of the cerebellar hemispheres tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866131 owl:Class N78294acad2204ce4b780e5b073b9507d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HsapDv:0000091 biolink:NamedThing human late adulthood stage Adult stage that refers to an adult who is over 45. tmpxe7fu0cj_hp_relaxed.owl Middle Aged + Aged|45+ years human_developmental_stage 45.0 owl:Class GO:0003012 biolink:NamedThing muscle system process A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers. tmpxe7fu0cj_hp_relaxed.owl muscle physiological process biological_process owl:Class HGNC:1437 biolink:NamedThing CALCA (human) A protein coding gene CALCA in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class N301db2583be84b0aa86fe9caf67748ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndeb0c40e11ed4c94acff7d9ea0a55a08 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000689 biolink:NamedThing Dental malocclusion Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. tmpxe7fu0cj_hp_relaxed.owl Malocclusion|Misalignment of upper and lower dental arches|Occlusion anomaly|Angle class 2 malocclusion|Malocclusion of teeth|Angle class 3 malocclusion|Bad bite|Bilateral crossbite|Malalignment of upper and lower dental arches|Bilateral crossbite malocclusion|Incorrect relation between upper and lower dental arches SNOMEDCT_US:707598004|UMLS:C4280614|SNOMEDCT_US:47944004|UMLS:C4280613|MSH:D008310|UMLS:C0024636 human_phenotype owl:Class N8a01f6dd9baf4597954c5a8828b0a08c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0043932 biolink:NamedThing ossification involved in bone remodeling The formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli. tmpxe7fu0cj_hp_relaxed.owl ossification involved in bone remodelling biological_process owl:Class CL:0000257 biolink:NamedThing Eumycetozoan cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class N137289de4db1476fabf315b84a14ce36 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0042416 biolink:NamedThing dopamine biosynthetic process The chemical reactions and pathways resulting in the formation of dopamine, a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. tmpxe7fu0cj_hp_relaxed.owl dopamine biosynthesis|dopamine anabolism|dopamine synthesis|dopamine formation biological_process owl:Class HP:0011417 biolink:NamedThing Long umbilical cord Increased length of the umbilical cord. tmpxe7fu0cj_hp_relaxed.owl Long umbilical cord UMLS:C0405028|SNOMEDCT_US:237261008 peter 2012-03-15T10:12:55Z owl:Class Nb3ee7f417d1d4dbab4edfa8af5aeba4f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000137 biolink:NamedThing Abnormality of the ovary An abnormality of the ovary. tmpxe7fu0cj_hp_relaxed.owl Ovarian disease|Abnormality of the ovaries|Abnormality of the ovary UMLS:C4021818|SNOMEDCT_US:5552004|UMLS:C0029928|MSH:D010049 human_phenotype owl:Class N9a446b915bac4a3c988f7678dadcf879 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000722 biolink:NamedThing Obsessive-compulsive behavior Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV). tmpxe7fu0cj_hp_relaxed.owl Obsessive-compulsive behaviour|Obsessive compulsive behaviour|Obsessive compulsive disorder|Obsessive-compulsive behavior|Obsessive compulsive behavior|Obsessive-compulsive disorder|OCD MSH:D009771|UMLS:C0028768|UMLS:C0600104|SNOMEDCT_US:12479006|MSH:D003192|SNOMEDCT_US:191736004 human_phenotype owl:Class Ne276b43bc70541fbb1c21c9694602b5b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001350 biolink:NamedThing coccyx A collection of caudal vertebrae in the coccygeal region that are fused and part of the bony pelvis. tmpxe7fu0cj_hp_relaxed.owl coccygeal skeleton|coccygeal vertebrae I-IV|tailbone|coccyx [vertebrae coccygeae I-IV]|coccyx [coccygeal vertebrae I-IV]|fused caudal vertebral column|fused caudal vertebrae|os coccygis NCIT:C12696|EHDAA2:0000259|AAO:0000731|OpenCyc:Mx4rv1XqHJwpEbGdrcN5Y29ycA|galen:Coccyx|GAID:239|UMLS:C0009194|FMA:20229|MESH:D003050 http://upload.wikimedia.org/wikipedia/commons/9/91/Gray100.png uberon owl:Class Small, bony element consisting of several fused, rudimentary caudal vertebrae; near metamorphosis the hypochord fuses to the coccyx, thereby forming the urostyle.[AAO] coccygeal In humans: The coccyx, commonly referred to as the tailbone, is the final segment of the human vertebral column. Comprising three to five separate or fused vertebrae (the coccygeal vertebrae) below the sacrum, it is attached to the sacrum by a fibrocartilaginous joint, the sacrococcygeal symphysis, which permits limited movement between the sacrum and the coccyx. UBERON:0007144 biolink:NamedThing embryonic post-anal tail An embryonic structure that will either develop into a post-anal tail or recede into a vestigial remnant of the tail. tmpxe7fu0cj_hp_relaxed.owl embryo tail|tail of embryo|embryonic tail EMAPA:16748|FMA:85540 uberon owl:Class By the fourth week a clear tail is seen in the human embryo. It recedes after a few weeks and these tissues form what is commonly known as the tailbone (coccyx). N76610990e38b4af8b8be4e4a84ef2827 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009935 biolink:NamedThing Aplasia/Hypoplasia of the nasal septum Absence or underdevelopment of the nasal septum. tmpxe7fu0cj_hp_relaxed.owl Failure of development of nasal septum|Ageneis of nasal septum|Underdevelopment of nasal septum UMLS:C4024156 peter 2009-05-10T10:40:21Z human_phenotype owl:Class N936369f411954f73b6b15bec2105a301 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:32651 biolink:NamedThing L-asparaginium tmpxe7fu0cj_hp_relaxed.owl L-asparaginium|L-asparagine cation|(1S)-3-amino-1-carboxy-3-oxopropan-1-aminium +1 C4H9N2O3 InChI=1S/C4H8N2O3/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H2,6,7)(H,8,9)/p+1/t2-/m0/s1 DCXYFEDJOCDNAF-REOHCLBHSA-O 133.12594 133.06077 NC(=O)C[C@H]([NH3+])C(O)=O chebi_ontology owl:Class UBERON:0005702 biolink:NamedThing optic eminence mesenchyme Mesenchyme that is part of a optic eminence. tmpxe7fu0cj_hp_relaxed.owl EMAPA:16324|EHDAA:942|VHOG:0001073|RETIRED_EHDAA2:0001310 uberon owl:Class HP:0009720 biolink:NamedThing Adenoma sebaceum The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin. tmpxe7fu0cj_hp_relaxed.owl Facial angiofibromas|Sebaceous adenomas|Sebaceous adenoma UMLS:C0265319|MSH:D014402|SNOMEDCT_US:36025004|SNOMEDCT_US:78424008|UMLS:C1368816 Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis. peter 2009-01-31T12:19:37Z human_phenotype owl:Class N84ecb807b412428384ecf3ee4d4a6e9f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nebc6b4fe940b455c8135f242447acea0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004991 biolink:NamedThing Rhizomelic arm shortening Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969532 human_phenotype owl:Class Ne21c9c586e534e3e9d602987b698856f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003675 biolink:NamedThing tooth crown The portion of the tooth covered by enamel. tmpxe7fu0cj_hp_relaxed.owl crown of tooth|tooth crown|corona dentis|crown|anatomical crown UMLS:C0226993|MESH:A14.254.900.710|NCIT:C32375|GAID:1275|FMA:55623 uberon owl:Class UBERON:0013504 biolink:NamedThing caudal vertebra pre-cartilage condensation A caudal vertebra endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl coccygeal vertebra pre-cartilage condensation|tail vertebral pre-cartilage condensation EMAPA:18045 UBERON:0013518 uberon owl:Class HP:0100447 biolink:NamedThing Curved proximal phalanx of the 4th toe A deviation from the normal straight form of the proximal phalanx of the fourth toe. tmpxe7fu0cj_hp_relaxed.owl Curved innermost bone of the 4th toe UMLS:C4022080 human_phenotype owl:Class N9fd4a30bb53a44f3bb902795469b52a5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005719 biolink:NamedThing footplate apical ectodermal ridge An apical ectodermal ridge that is part of a footplate. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000547|EMAPA:17251 uberon owl:Class Nafea26a3f28a4f6db2b753f9e2a42d0b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500024 biolink:NamedThing Aplasia of the musculature of the pelvis Absence of the musculature of the pelvis. tmpxe7fu0cj_hp_relaxed.owl 2017-05-25 16:51:46+00:00 ORCID:0000-0001-7941-2961 owl:Class N5f1588eee3584d68a8d3cc4b105715f2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100041 biolink:NamedThing Broad 3rd toe A broad appearance of the third toe. tmpxe7fu0cj_hp_relaxed.owl Wide 3rd toe|Broad 3rd toe UMLS:C4022380 doelkens 2010-06-24T09:54:55Z human_phenotype owl:Class Ndf14530acac340ac9f6b7980d6c2760b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:000001002 biolink:NamedThing CD19 molecule A protein that is a translation product of the human CD19 gene or a 1:1 ortholog thereof. It is composed of an N-terminal extracellular domain containing two Ig-like C2-type (immunoglobulin-like) domains, followed by a single-pass transmembrane segment and a cytoplasmic C-terminal tail. CD19 expression is restricted to members of the B cell lineage. It functions as a co-receptor for B-cell antigen receptor (BCR), regulating signal transduction. tmpxe7fu0cj_hp_relaxed.owl CD19|differentiation antigen CD19|B-lymphocyte surface antigen B4|T-cell surface antigen Leu-12 IUPHARobj:2764|PIRSF:PIRSF016630 Category=gene. Requested by=CL. protein owl:Class UBERON:0014706 biolink:NamedThing primitive renal collecting duct system tmpxe7fu0cj_hp_relaxed.owl primitive collecting duct|metanephros primitive collecting ducts EHDAA2:0001147|EMAPA:17646 uberon owl:Class HP:0100639 biolink:NamedThing Erectile dysfunction A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological. tmpxe7fu0cj_hp_relaxed.owl Erectile abnormalities|Abnormal erection doelkens 2010-12-29T05:45:28Z owl:Class N26c5160f5fd64265b96b1b4c6745e3e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naec58c9ce5ee4d44a1c4dc7273ca8a28 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006839 biolink:NamedThing dorsal ramus of spinal nerve Branch of spinal nerve that innervates the epaxial muscles. tmpxe7fu0cj_hp_relaxed.owl posterior primary ramus|posterior ramus of spinal nerve|ramus posterior|dorsal ramus|ramus posterior nervi spinalis|posterior branch of spinal nerve FMA:5983 http://upload.wikimedia.org/wikipedia/commons/b/b1/Gray819.png uberon owl:Class UBERON:0005476 biolink:NamedThing spinal nerve trunk Trunk part of spinal nerve, where dorsal and ventral roots meet to form the spinal nerve, before branching off to dorsal and ventral rami. tmpxe7fu0cj_hp_relaxed.owl trunk of spinal nerve|spinal nerve (trunk)|spinal neural trunk EHDAA2:0001900|FMA:5929 uberon owl:Class HP:0006610 biolink:NamedThing Wide intermamillary distance A larger than usual distance between the left and right nipple. tmpxe7fu0cj_hp_relaxed.owl Widely spaced nipples|Widely-spaced nipples|Wide-spaced nipples UMLS:C1827524|SNOMEDCT_US:423230008 HP:0001554|HP:0000779 human_phenotype owl:Class Na8d685edfe18439ea1eee5df5073e83d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001607 biolink:NamedThing sphincter pupillae A sphincter muscle that is part of the iris. tmpxe7fu0cj_hp_relaxed.owl pupillary constrictor muscle|constrictor pupillae|sphincter pupillae muscle|sphincter muscle of pupil|m. sphincter pupillae|musculus sphincter pupillae|iris constrictor muscle|M. sphincter pupillae|circular fibers|pupillary sphincter muscle|iris sphincter|sphincter pupillae|spincter pupillae|iris sphincter muscle|pupillary sphincter|iris constrictor BTO:0000656|EMAPA:35788|NCIT:C33586|UMLS:C0229189|MA:0001289|FMA:49157 http://upload.wikimedia.org/wikipedia/commons/2/2f/Gray878.png uberon owl:Class In humans, it functions to constrict the pupil in bright light or during accommodation. Its dimensions are about 0.75 mm wide by 0.15 mm thick. It is controlled by parasympathetic fibers that originate from the Edinger-Westphal nucleus, travel along the oculomotor nerve (CN III), synapse in the ciliary ganglion, and then enter the eye via the short ciliary nerves. Initially, all the myocytes are of the smooth muscle type, but much later in life, so that ultimately most cells are of the striated muscle type. [WP,unvetted]|WP says: It is found in vertebrates and some cephalopods; this class refers to the vertebrate structure constricts iris UBERON:0002442 biolink:NamedThing axillary nerve trunk tmpxe7fu0cj_hp_relaxed.owl circumflex nerve trunk|trunk of right axillary nerve|right axillary neural trunk EMAPA:37719|FMA:65265|MA:0001175 uberon owl:Class UBERON:0005614 biolink:NamedThing lens anterior epithelium A layer of cuboidal epithelial cells bounded anteriorly by the capsule of the lens and posteriorly by the lens cortex. tmpxe7fu0cj_hp_relaxed.owl lens epithelium|subcapsular lens epithelium|anterior epithelium of lens vesicle|lens subcapsular epithelium|anterior surface of lens EHDAA2:0000984|UMLS:C1182652|NCIT:C33641|EMAPA:17304|RETIRED_EHDAA2:0000976|EHDAA:9059|MA:0001302|FMA:70612|VHOG:0001425|SCTID:362521008|EMAPA:17839 uberon owl:Class Cells of the subcapsular epithelium (or anterior lens cells) are mitotically active. In adult individuals they only cover the anterior 'hemisphere' of the lens. As they divide, cells gradually move towards the equator of the lens where they tranform into lens fibres. The apical part of the gradually elongating cell extends between the subcapsular epithelium and adjacent lens fibres towards the anterior pole of the lens. The basal part extends towards the posterior pole. The nucleus remains close to the equatorial plane of the lens - http://www.lab.anhb.uwa.edu.au/mb140/corepages/eye/eye.htm UBERON:0005649 biolink:NamedThing pedal digit 2 epithelium An epithelium that is part of a pedal digit 2. tmpxe7fu0cj_hp_relaxed.owl pedal digit II epithelium|hind limb digit 2 epithelium|foot digit 2 epithelium EMAPA:17464|EHDAA2:0002043 uberon owl:Class HP:0005769 biolink:NamedThing Fifth finger distal phalanx clinodactyly Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger). tmpxe7fu0cj_hp_relaxed.owl Curvature of outermost bone of little finger|Curvature of outermost bone of pinky finger|Curvature of outermost bone of pinkie finger UMLS:C4280477|UMLS:C4025139 human_phenotype owl:Class N57ccccf7f728435bba347b4eb056263d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035882 biolink:NamedThing sphenomaxillary suture An inconstant suture between the pterygoid process of the sphenoid bone and the body of the maxilla. tmpxe7fu0cj_hp_relaxed.owl sutura sphenomaxillaris|sphenomaxillary suture of skull FMA:52957 uberon owl:Class UBERON:0001435 biolink:NamedThing carpal bone A bone that is part of the carpal skeleton. Examples: scaphoid, lunate, capitate[cjm]. tmpxe7fu0cj_hp_relaxed.owl carpal|carpus bone|bone of carpus|carpal skeleton bone galen:CarpalBone|FMA:23889|NCIT:C12688|EMAPA:25056|MESH:A02.835.232.087.144|MA:0000296|GAID:179|UMLS:C0007285 http://upload.wikimedia.org/wikipedia/commons/5/58/Carpus.svg uberon owl:Class In tetrapods, the carpals is the sole cluster of the bones in the wrist between the radius and ulna and the metacarpus. The bones of the carpus do not belong to individual fingers (or toes in quadrupeds), whereas those of the metacarpus do. The corresponding part of the foot is the tarsus. The carpal bones allow the wrist to move and rotate vertically, horizontally and laterally. In human anatomy, the main role of the carpus is to facilitate effective positioning of the hand and powerful use of the extensors and flexors of the forearm, but the mobility of individual carpal bones increase the freedom of movements at the wrist. UBERON:0039228 biolink:NamedThing sigmoid vein tmpxe7fu0cj_hp_relaxed.owl FMA:15395 uberon owl:Class UBERON:0014531 biolink:NamedThing white matter lamina of diencephalon tmpxe7fu0cj_hp_relaxed.owl diencephalon lamina|lamina of diencephalon FMA:62449 uberon owl:Class GO:0061147 biolink:NamedThing endocardial endothelium development The progression of the endocardial endothelium over time, from its initial formation to the mature structure. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers. tmpxe7fu0cj_hp_relaxed.owl dph 2010-06-03T09:15:31Z biological_process owl:Class GO:0021501 biolink:NamedThing prechordal plate formation The formation of the prechordal plate. The prechordal plate is a thickening of the endoderm at the cranial end of the primitive streak formed by the involution of Spemann's organizer cells. The prechordal plate and the notochord induce the formation of the neural plate from the overlying ectodermal cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:84497 biolink:NamedThing (omega-1)-hydroxy fatty acid anion A hydroxy fatty acid anion obtained by deprotonation of the carboxy group of any (omega-1)-hydroxy fatty acid; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl an (omega-1)-hydroxy fatty acid|(omega-1)-hydroxy fatty acid anion -1 C3H5O3R 89.070 89.02387 CC(O)[*]C([O-])=O chebi_ontology owl:Class GO:0060571 biolink:NamedThing morphogenesis of an epithelial fold The morphogenetic process in which an epithelial sheet bends along a linear axis. tmpxe7fu0cj_hp_relaxed.owl folding of an epithelial sheet|epithelial folding dph 2009-04-30T09:27:17Z biological_process owl:Class UBERON:0005157 biolink:NamedThing epithelial fold An epithelial sheet bent on a linear axis. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0010325 biolink:NamedThing Aplasia/Hypoplasia of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Absent/small 2nd toe|Absent/underdeveloped 2nd toe UMLS:C4023902 doelkens 2009-07-16T11:40:18Z human_phenotype owl:Class N01cea8c795fd4b7e9b4592ef28dec98a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000306 biolink:NamedThing Abnormality of the chin An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw. tmpxe7fu0cj_hp_relaxed.owl Anomaly of the chin|Malformation of the chin|Abnormality of the menton|Deformity of the chin|Abnormality of the chin UMLS:C4025864 human_phenotype owl:Class N14abed429bab4188ba471092af5dcea7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:8410000 biolink:NamedThing duodeno-jejunal junction The anatomical junction between the duodenum and the jejunum. tmpxe7fu0cj_hp_relaxed.owl duodenojejunal flexure|duodeno-jejunal flexure|duodenojejunal junction|flexura duodenojejunalis TA2:2952|WikipediaVersioned:Duodenojejunal_flexure&oldid=937307798|FMA:15957 uberon owl:Class UBERON:0018100 biolink:NamedThing distal mesopodial cartilage element A distal mesopodial endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0018101 biolink:NamedThing distal mesopodial pre-cartilage condensation A distal mesopodial endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0006152 biolink:NamedThing Proximal symphalangism of hands The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. tmpxe7fu0cj_hp_relaxed.owl Proximal interphalangeal joint synostoses|Fused innermost hinge joints UMLS:C4021607 HP:0006005 human_phenotype owl:Class N0f227fffd91342608c3b1abae7ededf0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007374 biolink:NamedThing incus cartilage element An incus endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18228 uberon owl:Class UBERON:0000111 biolink:NamedThing organogenesis stage A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism. tmpxe7fu0cj_hp_relaxed.owl segmentation stage BilaDO:0000010|OGES:000005|Wikipedia:Organogenesis|OGES:000032|BILS:0000111|MmusDv:0000018|HsapDv:0000015 uberon https://github.com/obophenotype/uberon/issues/533 owl:Class CL:0002610 biolink:NamedThing raphe nuclei neuron A neuron of the raphe nuclei. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-03-06T07:42:06Z cell owl:Class N13f48f4fe1154f5f99e729684e19db19 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0034909 biolink:NamedThing intermaxillary suture A cranial suture in the midline of the skull that connects the left and right maxilla bones. tmpxe7fu0cj_hp_relaxed.owl intermaxillary suture of skull FMA:52963 in humans, the upper maxillae (the upper jaw) is composed of the right and left maxilla bones, which are fused in the midline at the intermaxillary suture to form the upper jaw.[https://orcid.org/0000-0001-5889-4463] uberon owl:Class GO:1905349 biolink:NamedThing ciliary transition zone assembly The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. tmpxe7fu0cj_hp_relaxed.owl cilium transition zone assembly|ciliary transition zone formation|cilial transition zone formation|cilium transition zone formation|cilial transition zone assembly pr 2016-08-04T14:49:43Z biological_process owl:Class PR:000001084 biolink:NamedThing T-cell surface glycoprotein CD8 alpha chain A protein that is a translation product of the human CD8A gene or a 1:1 ortholog thereof. CD8 is a transmembrane that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. tmpxe7fu0cj_hp_relaxed.owl T-cell surface glycoprotein Lyt-2|CD8a|MAL|Lyt-2|CD8A|Lyt2|T-lymphocyte differentiation antigen T8/Leu-2 PANTHER:PTHR10441:SF1 Category=gene. Requested by=CL. protein owl:Class HP:0004590 biolink:NamedThing Hypoplastic sacrum tmpxe7fu0cj_hp_relaxed.owl Small sacrum UMLS:C1970816 human_phenotype owl:Class N0dda2903a22549379bc7a93c1d9fea08 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011728 biolink:NamedThing Elbow clonus Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023217 peter 2012-04-17T08:56:48Z human_phenotype owl:Class N9afb189c70c04f9d970310de8352bd39 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000712 biolink:NamedThing stratum granulosum cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0004284 biolink:NamedThing Notched hand bones tmpxe7fu0cj_hp_relaxed.owl Notched hand bones UMLS:C4025372 human_phenotype owl:Class Nba961d4d9cb74140a8e318131fa8322c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0016855 biolink:NamedThing ventral part of optic cup The ventral region of the optic cup that gives rise to the ventral part of the retina. tmpxe7fu0cj_hp_relaxed.owl ventral region of optic cup|ventral optic cup optic fissure, hyaloid artery, pecten uberon owl:Class UBERON:0035104 biolink:NamedThing raphe of penis tmpxe7fu0cj_hp_relaxed.owl penile raphe|raphe penis FMA:19646 uberon owl:Class PATO:0002358 biolink:NamedThing ridged tmpxe7fu0cj_hp_relaxed.owl owl:Class N54c675a72cae4788a40a4a4e4e90f529 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N42fd5bfab32d4705af765e59ab71d8ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001653 biolink:NamedThing Mitral regurgitation An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. tmpxe7fu0cj_hp_relaxed.owl Mitral valve insufficiency|Mitral regurgitation, mild|Mitral insufficiency|Mitral valve regurgitation|Mitral incompetence Fyler:1151|UMLS:C0026266|UMLS:C3551535|MSH:D008944|SNOMEDCT_US:48724000 owl:Class N5f5a865695274c539e700507b7ea2318 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004627 biolink:NamedThing thoracic vertebra 2 The second thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl second thoracic vertebra|T2 vertebra|second dorsal vertebra EMAPA:19543|FMA:9187|NCIT:C33724|UMLS:C0459936|MA:0001439 elements are to be defined spatially/topologically uberon owl:Class UBERON:0004626 biolink:NamedThing thoracic vertebra 1 The first thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl first thoracic vertebra|first dorsal vertebra|T1 vertebra NCIT:C33720|MA:0001438|UMLS:C0459933|EMAPA:19542|FMA:9165 elements are to be defined spatially/topologically uberon owl:Class PATO:0000591 biolink:NamedThing increased thickness A thickness which is relatively high. tmpxe7fu0cj_hp_relaxed.owl stout|high thickness|thickened|thick quality owl:Class HP:0031793 biolink:NamedThing Increased serum leptin An increased concentration of leptin in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating leptin level 2018-02-25 14:05:58+00:00 peter owl:Class N77ac580415eb4065b31ab57ad3a5b246 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5209345d7fb64efe9e44cb01e788c7ae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007021 biolink:NamedThing sexually immature organism A multicellular organism that is at the juvenile stage. tmpxe7fu0cj_hp_relaxed.owl juvenile organism|juvenile|juveniles BILA:0000076|TAO:0002047 uberon owl:Class Whole organism that is not fully grown or sexually mature.[TAO] UBERON:0000112 biolink:NamedThing sexually immature stage tmpxe7fu0cj_hp_relaxed.owl juvenile stage|immature stage|subadult stage BTO:0002168|EFO:0001300|BILS:0000112|ZFS:0000051|MmusDv:0000043|XAO:1000010|OGES:000009|XtroDO:0000083|EV:0300051 uberon https://github.com/obophenotype/uberon/issues/427 owl:Class The stage of being a sexually immature adult animal[XAO:1000010]. In mammals this would include infant (nourishment from lactation) and juvenile (prepubertal no longer dependent on mother) UBERON:0005969 biolink:NamedThing eye trabecular meshwork A pore-like structure surrounding the entire circumference of the anterior chamber of the eye through which aqueous humor circulates[MP]. tmpxe7fu0cj_hp_relaxed.owl ligamentum pectinatum anguli iridocornealis|scleral trabeculae|trabecular meshwork|scleral trabecule|reticulum trabeculare|cribiform ligament|ligamentum peactin-tum iridis|ligamentum pectinatum|trabecular mesh|eye trabecular meshwork|pectinate ligament|reticulum trabeculare sclerae|pectinate ligament of iris|trabecular meshwork of the eye|ligamentum pectinatum iridis|Hueck's ligament|iridis|scribiform ligament|scleral trabecular EFO:0003077|GAID:897|BTO:0001605|EV:0100352|CALOHA:TS-1058|MA:0003086|NCIT:C12803|FMA:77660|UMLS:C0040573|MESH:D014129 http://upload.wikimedia.org/wikipedia/commons/2/22/Gray870.png TODO check syns - ligaments UBERON:0004028 uberon owl:Class N3b3b43209b02478ea0a961f7227a377c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0007027 biolink:NamedThing negative regulation of axonemal microtubule depolymerization Any process that stops, prevents, or reduces the frequency, rate or extent of the depolymerization of the specialized microtubules of the axoneme. tmpxe7fu0cj_hp_relaxed.owl axonemal microtubule stabilization|negative regulation of microtubule depolymerization in axoneme biological_process owl:Class HP:0010313 biolink:NamedThing Breast hypertrophy The presence of hypertrophy of the breast. tmpxe7fu0cj_hp_relaxed.owl Macromastia|Breast enlargement|Large breast|Breasts enlarged|Gigantomastia|Hypertrophy of the breasts SNOMEDCT_US:372285001|SNOMEDCT_US:372283008|MSH:C536821|UMLS:C2225524|UMLS:C0020565|SNOMEDCT_US:372281005|UMLS:C0392533 peter 2009-07-12T02:34:30Z human_phenotype owl:Class N65722215a6e348a3bc58abd0401eb6a2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0055108 biolink:NamedThing Golgi to transport vesicle transport The directed movement of proteins from the Golgi to a transport vesicle. Continuously secreted proteins are sorted into transport vesicles that fuse with the plasma membrane, releasing their contents by exocytosis. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0048193 biolink:NamedThing Golgi vesicle transport The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. tmpxe7fu0cj_hp_relaxed.owl Golgi-derived vesicle transport biological_process owl:Class UBERON:0006834 biolink:NamedThing uterus or analog A subdivision of a the reproductive tract in a female organism that is the site of embryo development. tmpxe7fu0cj_hp_relaxed.owl uterus FBbt:00004924|TADS:0000421|WBbt:0006760 uberon owl:Class HP:0032120 biolink:NamedThing Abnormal peripheral nervous system physiology Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. tmpxe7fu0cj_hp_relaxed.owl 2018-11-17 16:57:55+00:00 peter owl:Class N9e317f803b41438fb5e96b73c0b21c37 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009129 biolink:NamedThing Upper limb amyotrophy Muscular atrophy involving the muscles of the upper limbs. tmpxe7fu0cj_hp_relaxed.owl Amyotrophy involving the upper limbs UMLS:C4021523 peter 2008-04-07T05:01:00Z HP:0003471 human_phenotype owl:Class Nfc209d6d33fe4b3d94698daeb8be5dd0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0022284 biolink:NamedThing lacrimal gland bud The single bud-like invagination of the conjunctival fornix epithelium at the temporal aspect of the eye that signals lacrimal gland formation (Int Rev Cytol. 1996;168:1-80. Cell biology of the harderian gland). tmpxe7fu0cj_hp_relaxed.owl EMAPA:35464 uberon owl:Class in mouse, the primary bud arises around E13.5 and extends caudally into the surrounding neural-crest derived periocular mesenchyme; between E15.5 and E16.5 the bud undergoes branching morphogenesis, forming both a major extra-orbital lobe and a minor intraorbital lobe UBERON:0014768 biolink:NamedThing superior palpebral vein A blood vessel that drains from from an upper eyelid. tmpxe7fu0cj_hp_relaxed.owl venae palpebrales superiores FMA:50907 uberon owl:Class N04ccc4f1a6b74aaab70ee0b18f25eb2e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:46915 biolink:NamedThing sarcosinate An alpha-amino-acid anion that is the conjugate base of sarcosine, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl sarcosinate|(methylamino)acetate -1 C3H6NO2 InChI=1S/C3H7NO2/c1-4-2-3(5)6/h4H,2H2,1H3,(H,5,6)/p-1 FSYKKLYZXJSNPZ-UHFFFAOYSA-M 88.08528 88.04040 CNCC([O-])=O Beilstein:3536300|Gmelin:81987|Reaxys:3536300 chebi_ontology owl:Class HP:0040211 biolink:NamedThing Abnormal skin morphology of the palm An abnormality of the skin of the palm, that is, the skin of the front of the hand. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073159 HPO:skoehler owl:Class Nb019e2d57c654ebdb77dc1479541cfd3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0062125 biolink:NamedThing regulation of mitochondrial gene expression Any process that modulates the frequency, rate or extent of mitochondrial gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). tmpxe7fu0cj_hp_relaxed.owl dph 2019-05-30T16:45:04Z biological_process owl:Class GO:0140053 biolink:NamedThing mitochondrial gene expression The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpxe7fu0cj_hp_relaxed.owl pg 2017-06-26T10:57:45Z biological_process owl:Class GO:0061515 biolink:NamedThing myeloid cell development The process whose specific outcome is the progression of a myeloid cell over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl dph 2013-04-18T13:03:16Z biological_process owl:Class UBERON:0014766 biolink:NamedThing right crus of diaphragm A crus of diaphragm that is in_the_right_side_of a diaphragm. tmpxe7fu0cj_hp_relaxed.owl crus dextrum diaphragmatis|right crus of diaphragm|external sphincter of esophagus|right crus of lumbar part of diaphragm|crus dextrum (Diaphragma) FMA:58286 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern HP:3000063 biolink:NamedThing Abnormality of internal jugular vein An abnormality of an internal jugular vein. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073270 vasilevs 2015-08-07T03:19:06Z human_phenotype owl:Class Nb7948cdd2db44e3dbbe52d233ad6ebd3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001827 biolink:NamedThing secretion of lacrimal gland Aqueous substance secreted by the lacrimal gland. tmpxe7fu0cj_hp_relaxed.owl lacrimal gland secretion|lacrimal secretion|tear fluid|lacrimal fluid|tear|tears galen:Tear|MA:0002508|GAID:1173|ENVO:02000034|BTO:0001499|galen:Tears|CALOHA:TS-1016|EMAPA:36537|NCIT:C33739|MESH:D013666|UMLS:C0039409|FMA:59756 uberon owl:Class HP:0009207 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 5th finger Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of the middle bone of the pinky finger|Fragmentation of end part of the middle bone of the pinkie finger|Fragmentation of end part of the middle bone of the little finger UMLS:C4024533 doelkens 2009-01-05T05:22:18Z human_phenotype owl:Class Nd125204cca6c49129f678fd20abfecfc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:1000020 biolink:NamedThing collection of hair on snout A collection of hairs that grows on the snout. tmpxe7fu0cj_hp_relaxed.owl eriks 2012-02-05T05:21:29Z uberon owl:Class CL:0000094 biolink:NamedThing granulocyte A leukocyte with abundant granules in the cytoplasm. tmpxe7fu0cj_hp_relaxed.owl polymorphonuclear leukocyte|granular leucocyte|granular leukocyte CALOHA:TS-0422|BTO:0000539|BTO:0001026|FMA:62854 cell owl:Class N8ce7a9c713034e0191fada581b76ee24 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012321 biolink:NamedThing deep cervical artery The deep cervical artery (Profunda cervicalis) is an artery of the neck. tmpxe7fu0cj_hp_relaxed.owl profunda cervicalis Wikipedia:Deep_cervical_artery|SCTID:244223002|FMA:10659 uberon owl:Class UBERON:0004688 biolink:NamedThing costo-cervical trunk The costocervical trunk arises from the upper and back part of the subclavian artery, behind the scalenus anterior on the right side, and medial to that muscle on the left side. Passing backward, it splits into the deep cervical artery and the supreme intercostal artery (or the Highest intercostal artery), which descends behind the pleura in front of the necks of the first and second ribs, and anastomoses with the first aortic intercostal (3rd posterior intercostal artery). As it crosses the neck of the first rib it lies medial to the anterior division of the first thoracic nerve, and lateral to the first thoracic ganglion of the sympathetic trunk. In the first intercostal space, it gives off a branch which is distributed in a manner similar to the distribution of the aortic intercostals. The branch for the second intercostal space usually joins with one from the highest aortic intercostal artery. This branch is not constant, but is more commonly found on the right side; when absent, its place is supplied by an intercostal branch from the aorta. Each intercostal gives off a posterior branch which goes to the posterior vertebral muscles, and sends a small spinal branch through the corresponding intervertebral foramen to the medulla spinalis and its membranes. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl truncus costocervicalis|trunk of costocervical artery|costocervical trunk Wikipedia:Costocervical_trunk|EMAPA:37496|MA:0001939|FMA:10636|SCTID:244225009 http://upload.wikimedia.org/wikipedia/commons/b/b3/Costocervical_trunk_with_branches.png uberon owl:Class UBERON:0005421 biolink:NamedThing pectoral appendage apical ectodermal ridge An apical ectodermal ridge that is part of a pectoral appendage bud. tmpxe7fu0cj_hp_relaxed.owl apical ectodermal ridge forelimb|apical fold pectoral fin|upper limb bud apical ectodermal ridge|apical ectodermal ridge pectoral fin|AER forelimb|wing AER|aer pectoral fin|wing apical ectodermal ridge|apical ectodermal ridge pectoral fin bud VHOG:0001064|EFO:0003487|TAO:0000736|ZFA:0000085|EMAPA:16778|EHDAA2:0000138|TAO:0000085 uberon owl:Class Apical ectodermal ridge that is part of the pectoral fin bud.[TAO]|An ectodermal thickening at the end of the forelimb bud in the developing embryo. [TFD][VHOG] Pectoral and pelvic fins are homologous to the tetrapod fore and hindlimb, respectively. (...) The zebrafish AER [apical ectodermal ridge] is an apical ectodermal thickening at the distal tip of the fin bud and consists of wedge-shaped cells of the basal stratum. The AER is observed only transiently, and from 36 hpf onwards the cells of this region form the apical fold (AF), which consists of a dorsal and a ventral layer of cylindrically-shaped ectodermal cells extending from the anterior to the posterior fin margin. Despite the change in shape, the AF still carries out the same functions as the AER. Indeed, although the AER receives its name from its characteristic shape, being composed of a pseudostratified ectoderm in the chicken and a polystratified ectoderm in the mouse, this independence of AER morphology from its function is also observed in tetrapods. The AF also expresses similar molecular markers to the tetrapod AER, suggesting that it fulfills similar functions in the fin as the AER does in tetrapod limbs.[well established][VHOG] N88f435f825a345f1907cee937f395597 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008419 biolink:NamedThing Intervertebral disc degeneration The presence of degenerative changes of intervertebral disk. tmpxe7fu0cj_hp_relaxed.owl Degenerative disc disease|Degeneration of intervertebral disks|Degeneration of intervertebral discs|Degenerative intervertebral disc|Degenerative intervertebral disk SNOMEDCT_US:77547008|UMLS:C0158266|MSH:D055959 human_phenotype owl:Class Ncde4cff1f3754b4283b8ea46208ec367 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410375 biolink:NamedThing Increased proportion of naive CD4 T cells tmpxe7fu0cj_hp_relaxed.owl Increased proportion of naive thymus-derived CD4-positive, alpha-beta T cells|Elevated proportion of naive CD4 T cells|Increased proportion of CD4+CD45RA+ cells An abnormally increased proportion of naive CD4 T cells relative to the total number of T cells. owl:Class N3076e4592e6d4331ad20acfdd7cb8fde biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001574 biolink:NamedThing palatoglossus muscle The palatoglossus, glossopalatinus, or palatoglossal muscle is a small fleshy fasciculus, narrower in the middle than at either end, forming, with the mucous membrane covering its surface, the glossopalatine arch. It arises from the anterior surface of the soft palate, where it is continuous with the muscle of the opposite side, and passing downward, forward, and lateralward in front of the palatine tonsil, is inserted into the side of the tongue, some of its fibers spreading over the dorsum, and others passing deeply into the substance of the organ to intermingle with the Transversus linguæ. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl palatoglossal|musculus palatoglossus|palatoglossus|palatoglossal muscle MA:0002351|NCIT:C53170|UMLS:C1704249|EMAPA:18278|FMA:46697 http://upload.wikimedia.org/wikipedia/commons/c/c7/Gray1028.png|http://upload.wikimedia.org/wikipedia/commons/6/6e/Gray1014.png uberon owl:Class Palatoglossus is a muscle that attaches to the soft palate and the tongue and is innervated by Cranial Nerve X via the pharyngeal plexus.[FEED] Nda222199159944c6a35d4614befebadd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0001706 biolink:NamedThing endoderm formation The formation of the endoderm during gastrulation. tmpxe7fu0cj_hp_relaxed.owl endoblast formation biological_process owl:Class UBERON:0005730 biolink:NamedThing pelvic appendage field A limb/fin field that has the potential to develop into a pelvic appendage bud mesenchyme. tmpxe7fu0cj_hp_relaxed.owl pelvic fin field|pelvic appendage field of lateral plate mesoderm ZFA:0001454|TAO:0001454 uberon owl:Class Embryonic region that develops into the pelvic fin bud.[TAO] UBERON:0003412 biolink:NamedThing pelvic appendage bud mesenchyme Mesenchyme that is part of a pelvic appendage bud. tmpxe7fu0cj_hp_relaxed.owl mesoderm pelvic fin bud|hindlimb bud mesenchyme|pelvic fin bud mesenchyme|leg mesenchyme|lower limb bud mesenchyme TAO:0001386|EMAPA:16781|EHDAA2:0001035|ZFA:0001386 uberon owl:Class Mesoderm part of pelvic fin bud.[TAO] HP:0008753 biolink:NamedThing Aplasia of the epiglottis Absence of the epiglottis. tmpxe7fu0cj_hp_relaxed.owl Absent epiglottis UMLS:C4024628 human_phenotype owl:Class N16c83bc58d0f4dc1a5533fe0307a068c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006207 biolink:NamedThing aortico-pulmonary spiral septum The spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta[MP]. The aorticopulmonary septum is developmentally formed from neural crest, specifically the cardiac neural crest, and actively separates the aorta and pulmonary arteries and fuses with the interventricular septum within the heart during development. The actual mechanism of septation of the outflow tract is poorly understood, but is recognized as a dynamic process with contributions from contractile, hemodynamic, and extracellular matrix interactions. tmpxe7fu0cj_hp_relaxed.owl aorticopulmonary septum|aortico-pulmonary septum|septum aorticopulmonale|aortic septum|spiral septum EHDAA2:0000136|VHOG:0000502|Wikipedia:Aorticopulmonary_septum|CALOHA:TS-2409|EMAPA:16827|EHDAA:2592 http://upload.wikimedia.org/wikipedia/commons/b/b9/Gray470.png UBERON:0005999 uberon owl:Class HP:0010665 biolink:NamedThing Bilateral coxa valga The presence of bilateral coxa valga. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3810018 peter 2010-02-26T08:07:03Z human_phenotype owl:Class Nc6af6906e001434f82fab538c13e6d73 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000401 biolink:NamedThing mandibular ramus The upturned perpendicular extremity of the mandible. tmpxe7fu0cj_hp_relaxed.owl ramus of mandible|lower ramus|ramus mandibulae|rami mandibulae|mandible ramus FMA:52828|MA:0002815|BTO:0001751|EMAPA:25100 http://upload.wikimedia.org/wikipedia/commons/6/64/Gray176.png uberon owl:Class HP:0007628 biolink:NamedThing Mandibular condyle hypoplasia tmpxe7fu0cj_hp_relaxed.owl Small mandibular condyle|Decreased size of condylar process of mandible|Hypotrophic mandibular condyle|Hypoplasia of condylar neck of mandible|Decreased size of mandibular condyle|Hypoplasia of mandibular condyle|Small condylar neck of mandible|Hypoplasia of condylar head of mandible|Hypoplasia of subcondylar region of mandible|Hypoplasia of condylar process of mandible|Hypotrophic condylar process of mandible|Small condylar head of mandible UMLS:C0399572|SNOMEDCT_US:235120003|UMLS:C4280428|UMLS:C4280424|UMLS:C4280427|UMLS:C4280425|UMLS:C4280426|UMLS:C4280423 human_phenotype owl:Class Nea9dddfaab634dde9002da508142d3f0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0030887 biolink:NamedThing positive regulation of myeloid dendritic cell activation Any process that stimulates, induces or increases the rate of myeloid dendritic cell activation. tmpxe7fu0cj_hp_relaxed.owl upregulation of myeloid dendritic cell activation|up-regulation of myeloid dendritic cell activation|stimulation of myeloid dendritic cell activation|up regulation of myeloid dendritic cell activation|activation of myeloid dendritic cell activation biological_process owl:Class GO:0045639 biolink:NamedThing positive regulation of myeloid cell differentiation Any process that activates or increases the frequency, rate or extent of myeloid cell differentiation. tmpxe7fu0cj_hp_relaxed.owl upregulation of myeloid cell differentiation|activation of myeloid cell differentiation|stimulation of myeloid cell differentiation|up regulation of myeloid cell differentiation|up-regulation of myeloid cell differentiation biological_process owl:Class GO:0060426 biolink:NamedThing lung vasculature development The biological process whose specific outcome is the progression of a lung vasculature from an initial condition to its mature state. This process begins with the formation of the lung vasculature and ends with the mature structure. The lung vasculature is composed of the tubule structures that carry blood or lymph in the lungs. tmpxe7fu0cj_hp_relaxed.owl pulmonary vasculature development biological_process owl:Class GO:0006323 biolink:NamedThing DNA packaging Any process in which DNA and associated proteins are formed into a compact, orderly structure. tmpxe7fu0cj_hp_relaxed.owl DNA condensation|DNA organisation|DNA organization biological_process owl:Class UBERON:0003052 biolink:NamedThing midbrain-hindbrain boundary The part of the brain that is the morphological boundary between the midbrain and hindbrain and that is the location of an organizing center which patterns the midbrain and hindbrain primordia of the neural plate. tmpxe7fu0cj_hp_relaxed.owl mid-hindbrain boundary|isthmic organizer territory|mid-hindbrain junction|midbrain hindbrain boundary|isthmo-cerebellar region|isthmus|MHB|isthmus/MHB EHDAA:5789|XAO:0000016|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2076|EHDAA2:0004395|DMBA:16810|TAO:0000042|EMAPA:32857|VHOG:0000649|AAO:0011064|NCIT:C93172|ZFA:0000042 consider adding class for organizer. Consider adding separate class for isthmus as a structure uberon owl:Class Lampreys also have an MHB [midbrain hindbrain boundary], expressing a similar repertoire of regulatory gene cognates as in gnathostomes.[well established][VHOG] HP:3000041 biolink:NamedThing Abnormality of external carotid artery An abnormality of an external carotid artery. tmpxe7fu0cj_hp_relaxed.owl Disorder of carotid artery|Abnormality of carotid artery UMLS:C4073249 vasilevs 2015-08-07T00:36:24Z human_phenotype owl:Class Nf5cb655b03854e2baa658518e328bdc3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1a7463c42c0e48778ca5afe106b16c61 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0036286 biolink:NamedThing wall of right ventricle Wall of ventricle which is continuous with the wall of pulmonary trunk. tmpxe7fu0cj_hp_relaxed.owl right ventricular wall FMA:9533 uberon owl:Class PATO:0001712 biolink:NamedThing increased perimeter A perimeter which is relatively high. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class N619465ef8b33469da69c2a6619ec18bc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na5e88fd0c9304f21a942d9da53f61068 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005407 biolink:NamedThing sublingual ganglion The small parasympathetic ganglion found anterior to the submandibular gland that provides postsynaptic fibers to the sublingual gland. tmpxe7fu0cj_hp_relaxed.owl MA:0002982|EHDAA:10101|FMA:77591|EHDAA2:0001938 uberon owl:Class GO:1902414 biolink:NamedThing protein localization to cell junction A process in which a protein is transported to, or maintained in, a location within a cell junction. tmpxe7fu0cj_hp_relaxed.owl protein localisation to cell junction|protein localization in cell junction|protein localisation in cell junction tb 2013-09-13T16:55:57Z biological_process owl:Class HP:0040257 biolink:NamedThing Abnormal size of nasopharyngeal adenoids A deviation in the size of nasopharyngeal adenoids. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280692 owl:Class Nd0d5c65976594be8b13695c4f14f39eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007151 biolink:NamedThing mitral valve leaflet A valve leafleft that is part of a mitral valve. tmpxe7fu0cj_hp_relaxed.owl mitral valve leaflets|mitral valvular leaflet|mitral valve leaflet|leaflet of mitral valve EMAPA:18628|FMA:7241|VHOG:0000822 uberon owl:Class Leaf of cardiac valve which has as its parts the anterior, and posterior leaflets that is attached to the chorda tendinea of left ventricle and to the frbrous ring of mitral valve. The mature AV (atrioventricular) valve of the adult zebrafish 2-chambered heart is structurally similar to the mammalian AV valves with stratified ECM (extracellular matrix) and supporting chordae tendineae. Therefore, the major cellular and molecular events of valve development are largely conserved among animals with hearts composed of multiple chambers.[uncertain][VHOG] UBERON:0014851 biolink:NamedThing chorda tendinea of left ventricle Chorda tendinea which is attached to the leaflet of mitral valve and is continuous with the endocardium of papillary muscle of left ventricle. tmpxe7fu0cj_hp_relaxed.owl FMA:9349 uberon owl:Class UBERON:0001280 biolink:NamedThing liver parenchyma The functional units of the liver including the lobules. tmpxe7fu0cj_hp_relaxed.owl parenchyma of liver|hepatic parenchyma|liver parenchyme|hepatic parenchyme NCIT:C32735|EHDAA:2201|XAO:0000454|AAO:0010405|MA:0000366|EMAPA:17203|FMA:17540|VHOG:0000539|EHDAA2:0001004 UBERON:0003223 uberon owl:Class the (liver) tubular structure (dual layered parenchyma) appears to be conserved among all embryonic vertebrates (...) it is not unlikely that all vertebrate livers share the same fundamental functional unit.[well established][VHOG] GO:0061559 biolink:NamedThing cranial ganglion morphogenesis The process in which the anatomical structure of a cranial ganglion is generated and organized. tmpxe7fu0cj_hp_relaxed.owl cranial ganglia morphogenesis dph 2013-07-10T09:02:15Z biological_process owl:Class GO:0021602 biolink:NamedThing cranial nerve morphogenesis The process in which the anatomical structure of the cranial nerves are generated and organized. The cranial nerves are composed of twelve pairs of nerves that emanate from the nervous tissue of the hindbrain. These nerves are sensory, motor, or mixed in nature, and provide the motor and general sensory innervation of the head, neck and viscera. They mediate vision, hearing, olfaction and taste and carry the parasympathetic innervation of the autonomic ganglia that control visceral functions. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0003574 biolink:NamedThing elbow connective tissue A portion of connective tissue that is part of a elbow [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl connective tissue of cubital region|textus connectivus of cubital region|connective tissue of elbow MA:0000609|EMAPA:37318 uberon owl:Class HP:0010136 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the hallux The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the innermost bone of the big toe UMLS:C4024023 doelkens 2009-05-29T01:22:23Z human_phenotype owl:Class N5e9d97609803476b9210bdd12e963515 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N91c6b772c5e246f7b94aa417be43022c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0034928 biolink:NamedThing dorsal surface of penis tmpxe7fu0cj_hp_relaxed.owl dorsum of penis|dorsum penis FMA:19623 uberon owl:Class GO:0030854 biolink:NamedThing positive regulation of granulocyte differentiation Any process that activates or increases the frequency, rate or extent of granulocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl up-regulation of granulocyte differentiation|stimulation of granulocyte differentiation|activation of granulocyte differentiation|up regulation of granulocyte differentiation|upregulation of granulocyte differentiation biological_process owl:Class HP:0004388 biolink:NamedThing Microcolon A colon of abnormally small caliber. tmpxe7fu0cj_hp_relaxed.owl Microcolon on contrast enema MSH:C562563|UMLS:C0266200|UMLS:C3553395|SNOMEDCT_US:18389004 peter 2008-03-18T09:02:00Z human_phenotype owl:Class N7c18c9965c9d4c1f8595d9c19136a5b5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009624 biolink:NamedThing Contractures of the carpometacarpal joint of the thumb Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024269 doelkens 2009-01-29T04:52:18Z human_phenotype owl:Class N695f3359f90e4b98be64e212fb2a7b3c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012465 biolink:NamedThing lumen of terminal part of digestive tract An anatomical space that is enclosed by a terminal part of digestive tract. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class includes the cloacal lumen, in species where this is present HP:0030671 biolink:NamedThing Abnormal common tendinous ring morphology Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the common tendinous ring UMLS:C4073122 ORCID:0000-0003-0986-4123 owl:Class N528be4fb503f495c90819cdacf8a5db3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005669 biolink:NamedThing peritoneal cavity mesothelium A mesothelium that is part of a peritoneal cavity. tmpxe7fu0cj_hp_relaxed.owl peritoneum|peritoneal mesothelium|peritoneum mesothelium|mesothelium of peritoneum|mesothelium of peritoneal component BTO:0003156|EMAPA:16139|EHDAA2:0001447|FMA:18147|SCTID:34073007 uberon owl:Class we believe that this corresponds to EMAPA:16139 based on synonyms and parenthood UBERON:0010416 biolink:NamedThing lymph node B cell domain A part of the lymph node cortex in which B lymphocytes home to primary follicles to survey follicular dendritic cells (FDCs); antigen stimulated B cells proliferate and differentiate within the follicles forming distinctive germinal centers. tmpxe7fu0cj_hp_relaxed.owl lymph node B-cell domain|lymph node B cell dependent cortex|nodular lymph node cortex MA:0002851 uberon owl:Class N71e3b38afd3d4e5bb01607aacb030c45 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb726c3c670a9478a8af54e0d2a1ccac7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1905455 biolink:NamedThing positive regulation of myeloid progenitor cell differentiation Any process that activates or increases the frequency, rate or extent of myeloid progenitor cell differentiation. tmpxe7fu0cj_hp_relaxed.owl up regulation of myeloid progenitor cell differentiation|upregulation of myeloid progenitor cell differentiation|up-regulation of myeloid progenitor cell differentiation|activation of myeloid progenitor cell differentiation rz 2016-09-16T12:32:33Z biological_process owl:Class N0d5670b151df4e4c96b63656b79f1759 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005564 biolink:NamedThing gonad primordium Portion of tissue that gives rise to the immature gonad. tmpxe7fu0cj_hp_relaxed.owl primitive gonad|gonadal primordium|undifferentiated gonad|immature gonad|future gonad RETIRED_EHDAA2:0002148|TAO:0001262|WBbt:0008366|EMAPA:17204|EFO:0003651|ZFA:0001262|EHDAA:5927 uberon owl:Class Immature reproductive tissue that has not undergone final maturation into either testis or ovary.[TAO] this is a very broad grouping class HP:0003451 biolink:NamedThing Increased rate of premature chromosome condensation An increased rate of premature chromosome condensation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025613 human_phenotype owl:Class N17f9f1584f4946fbb595254bb9bee36c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011374 biolink:NamedThing prepuce A retractable double-layered fold of skin and mucous membrane that covers the glans penis or clitoris. Glands may also be present. tmpxe7fu0cj_hp_relaxed.owl NCIT:C12323 this is a generic sex-neutral grouping class for the male and female prepuce. Note that this structure is a combination of skin and other tissue uberon owl:Class preputial UBERON:0005178 biolink:NamedThing thoracic cavity element An organ or element that is in the thoracic cavity. Examples: lung, heart, longus colli. tmpxe7fu0cj_hp_relaxed.owl thoracic cavity organ MA:0000557|EMAPA:37273 uberon owl:Class NCBITaxon:9526 biolink:NamedThing Catarrhini tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0005275 biolink:NamedThing Cartilaginous ossification of nose tmpxe7fu0cj_hp_relaxed.owl Cartilaginous nasal ossification UMLS:C1855616 human_phenotype owl:Class Nc173a4ce6d58485d90d621398c82d9ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0010823 biolink:NamedThing negative regulation of mitochondrion organization Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. tmpxe7fu0cj_hp_relaxed.owl negative regulation of mitochondrion organisation biological_process owl:Class CHEBI:35722 biolink:NamedThing sulfated glycosaminoglycan tmpxe7fu0cj_hp_relaxed.owl sulfated glycosaminoglycans|glycosaminoglycan sulfate|glycosaminoglycan sulfates chebi_ontology owl:Class Nded4d04796124e519334a37260dad008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1904819 biolink:NamedThing parietal peritoneum development The process whose specific outcome is the progression of a parietal peritoneum over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl peritoneal cavity lining development dph 2015-11-17T19:00:24Z biological_process owl:Class GO:0002442 biolink:NamedThing serotonin secretion involved in inflammatory response tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0002227 biolink:NamedThing White eyelashes White color (lack of pigmentation) of the eyelashes. tmpxe7fu0cj_hp_relaxed.owl Blonde eyelashes|Grey eyelashes|Depigmented eyelashes|White eyelashes|Pale eyelashes UMLS:C4280578|UMLS:C1836736 owl:Class N36ce46828c4242ea8e0b785fb1ff24c1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002589 biolink:NamedThing lateral corticospinal tract Part of the corticospinal tract located in the spinal cord, formed as 75 to 90% of the corticospinal fibers cross to the opposite side of the brainstem in the pyramidal decussation. This tract descends the length of the spinal cord in the lateral white column (Adapted from Brain Info). tmpxe7fu0cj_hp_relaxed.owl lateral corticospinal tract of the medulla|tractus corticospinalis (pyramidalis) lateralis|corticospinal tract, crossed|pyramidal tract, crossed|crossed corticospinal tract|crossed pyramidal tract|lateral pyramidal tract|fasciculus cerebrospinalis lateralis|tractus corticospinalis lateralis|lateral corticospinal tract UMLS:C0152402|BAMS:py|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=801|NCIT:C32406|EMAPA:37888|FMA:72635|MBA:1019|DHBA:12759|BAMS:lcsp|BIRNLEX:1095 http://upload.wikimedia.org/wikipedia/commons/b/b2/Spinal_cord_tracts_-_English.svg uberon owl:Class GO:0061325 biolink:NamedThing cell proliferation involved in outflow tract morphogenesis The multiplication or reproduction of cells, resulting in the expansion of a cell population that contributes to the shaping of the outflow tract. tmpxe7fu0cj_hp_relaxed.owl dph 2010-09-28T09:29:30Z biological_process owl:Class UBERON:0003489 biolink:NamedThing respiratory system capillary endothelium An endothelium of capillary that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl apparatus respiratorius capillary vessel endothelium|endothelium of capillary vessel of respiratory system|apparatus respiratorius endothelium of capillary vessel|apparatus respiratorius capillary endothelium|respiratory system endothelium of blood capillary|apparatus respiratorius blood capillary endothelium|respiratory system capillary vessel endothelium|blood capillary endothelium of respiratory system|endothelium of blood capillary of apparatus respiratorius|apparatus respiratorius endothelium of capillary|endothelium of capillary vessel of apparatus respiratorius|capillary vessel endothelium of apparatus respiratorius|blood capillary endothelium of apparatus respiratorius|capillary endothelium of apparatus respiratorius|respiratory system blood capillary endothelium|respiratory system endothelium of capillary vessel|apparatus respiratorius endothelium of blood capillary|capillary endothelium of respiratory system|respiratory system endothelium of capillary|capillary vessel endothelium of respiratory system|endothelium of blood capillary of respiratory system|endothelium of capillary of respiratory system|endothelium of capillary of apparatus respiratorius EMAPA:37575|MA:0001808 uberon owl:Class UBERON:0007845 biolink:NamedThing regular connective tissue Connective tissue, which consists of fibroblasts, the intercellular matrix of which contains a regular network of collagen and elastic fiber bundles. Examples: bone (tissue), cartilage (tissue), dense regular connective tissue. tmpxe7fu0cj_hp_relaxed.owl FMA:20103 the connective tissue hierarchy largely follows FMA with definitions from VSAO. Note that in FMA, loose-CT is irregular-CT. This means regular-CT is necessarily equivalent to dense-regular-CT (assuming a JEPD classification). uberon owl:Class GO:0071953 biolink:NamedThing elastic fiber An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain. tmpxe7fu0cj_hp_relaxed.owl elastin fiber|elastic fibre mah 2010-10-11T11:44:57Z cellular_component owl:Class N1869f7c8d4ae40c19831605bb2f53924 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0045665 biolink:NamedThing negative regulation of neuron differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of neuron differentiation|downregulation of neuron differentiation|inhibition of neuron differentiation|down regulation of neuron differentiation biological_process owl:Class Nb09e433842bf414a82b79c0a22b1136a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:18401 biolink:NamedThing phenylacetate A monocarboxylic acid anion that is the conjugate base of phenylacetic acid. tmpxe7fu0cj_hp_relaxed.owl 2-phenylethanoate|2-phenylacetate|phenylacetic acid anion|phenylacetate|phenylacetate(1-)|phenylacetate anion -1 C8H7O2 InChI=1S/C8H8O2/c9-8(10)6-7-4-2-1-3-5-7/h1-5H,6H2,(H,9,10)/p-1 WLJVXDMOQOGPHL-UHFFFAOYSA-M 135.13998 135.04515 [O-]C(=O)Cc1ccccc1 Gmelin:327522|Beilstein:3539899|UM-BBD_compID:c0211|MetaCyc:PHENYLACETATE|Reaxys:3539899 CHEBI:14779|CHEBI:25975 chebi_ontology owl:Class UBERON:0019143 biolink:NamedThing intramuscular adipose tissue Adipose tissue which is located throughout skeletal muscle and is responsible for the marbling seen in certain cuts of beef. In humans, excess accumulation of intramuscular fat is associated with insulin resistance and type 2 diabetes. tmpxe7fu0cj_hp_relaxed.owl intramuscular fat BTO:0004043 uberon owl:Class PATO:0001748 biolink:NamedThing invaginated A shape quality in which a portion of the outermost boundary of an entity folds in space such that a portion that was originally convex is now concave. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0100623 biolink:NamedThing Abnormality of corpus cavernosum tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022009 doelkens 2010-12-28T12:47:15Z owl:Class N04e95261e4604073b2c69a55b5aef202 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Necafc4db273744e3a261e5377e7b4355 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011974 biolink:NamedThing epiphysis of proximal phalanx of pes An epiphysis that is part of a proximal phalanx of pes. tmpxe7fu0cj_hp_relaxed.owl epiphysis of proximal phalanx of toe uberon owl:Class GO:0007608 biolink:NamedThing sensory perception of smell The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors. This is a neurological process. tmpxe7fu0cj_hp_relaxed.owl smell perception|sense of smell|scent perception|olfaction Wikipedia:Olfaction biological_process owl:Class UBERON:0003061 biolink:NamedThing blood island Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]. tmpxe7fu0cj_hp_relaxed.owl ventral blood island|ventral lateral plate mesoderm|posterior ICM|blood islands|VBI|posterior blood island|caudal hematopoietic tissue ZFA:0000094|AAO:0011006|VHOG:0000085|EHDAA:207|XAO:0000067|TAO:0000094|NCIT:C34113|UMLS:C1511224|TE:E5.11.2.0.0.0.4|EFO:0003489|Wikipedia:Blood_island_of_umbilical_vesicle uberon owl:Class Nests of developing blood cells arising late in the segmentation period from the intermediate mass, and located in the anterior-ventral tail, just posterior to the yolk extension. Kimmel et al, 1995.[TAO]|Region located on the ventral surface of the developing embryo that is a site of hematopoiesis and that is analogous to the yolk sac blood islands of higher vertebrates.[AAO] relationship loss: part_of intermediate cell mass of mesoderm (TAO:0000033)[TAO] Small clusters of mesodermal cells called blood islands mark the embryonic debut of the cardiovascular system (in vertebrates) (reference 1); In birds and mammals, primitive hemangioblasts are extraembryonic, populating the yolk sac as the so-called blood islands (reference 2).[well established][VHOG] EHDAA2 distinguishes 3 types, but does not have a superclass. The VHOG class may refer to yolk sac HP:0005879 biolink:NamedThing Congenital finger flexion contractures Multiple bent (flexed) finger joints that cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl Congenital finger contractures UMLS:C1393871 human_phenotype owl:Class N81e76f6bcc074f74b0af7556a058ed34 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002465 biolink:NamedThing lymphoid system The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system[WP]. tmpxe7fu0cj_hp_relaxed.owl lymphatic drainage system|systema lymphoideum|lymphatic system|lymphatic circulatory system MIAA:0000197|NCIT:C12746|UMLS:C0024235|VHOG:0000842|EMAPA:37664|ZFA:0000385|EHDAA2:0001043|MAT:0000197|EHDAA:8677|GAID:931|TAO:0000385|FMA:74594|MA:0002435|XAO:0003199|Wikipedia:Lymphoid_system|SCTID:362589007|OpenCyc:Mx4rwQAKT5wpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/b/b3/TE-Lymphatic_system_diagram.svg UBERON:0002096 uberon owl:Class Part of the circulatory system which consists of a series of vessels which collect blood (exclusive of erythrocytes) which seep through capillary walls and return it to the veins.[AAO] Tetrapods have evolved distinct lymphatic systems, in which lymphatic capillaries help drain most of the tissues of the body.[well established][VHOG] lymphoid The lymphatic systems of reptiles and some birds have lymph hearts, and both groups have extensive lymph vessels, but their functional role in both lymph movement and plasma volume homeostasis is almost completely unknown [10.1152/japplphysiol.00201.2013]|The lymphatic system of anuran amphibians is characterized by large lymphatic sacs and two pairs of lymph hearts that return lymph into the venous circulation but no lymph vessels per se [10.1152/japplphysiol.00201.2013] We follow FMA and MA in distinguishing between lymphatic system and lymphoid system, with lymhoid tissue part of the non-lymphatic component, although these terms are often used interchangeably. We assume the ZFA term lymphatic tissue actually corresponds to the broader class (e.g. ZFA lymph node in the ZFA lymphatic system). See tracker for more comments. N8901c62e18ca4944ac1022392b4d190e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0031808 biolink:NamedThing Decreased basophil count An abnormally reduced count of basophils per volume in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2018-04-04 01:16:02+00:00 peter owl:Class N6ae0fae9af884edeb345f472942583cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N513d685485fe40c181c507f77c913ef2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004040 biolink:NamedThing cortical intermediate zone The region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone. tmpxe7fu0cj_hp_relaxed.owl cerebral cortex mantle layer|cerebral cortex mantle zone|IZ|cortical mantle layer EMAPA:32712|EMAPA:17545 uberon owl:Class GO:0060538 biolink:NamedThing skeletal muscle organ development The progression of a skeletal muscle organ over time from its initial formation to its mature state. A skeletal muscle organ includes the skeletal muscle tissue and its associated connective tissue. tmpxe7fu0cj_hp_relaxed.owl dph 2009-04-10T08:25:12Z biological_process owl:Class UBERON:0003214 biolink:NamedThing mammary gland alveolus A sac-like structure that is found in the mature gland[GO]. tmpxe7fu0cj_hp_relaxed.owl alveolus of mammary gland|mammary alveolus|alveolus of lactiferous gland|alveolus of lobe of mammary gland|lactiferous alveolus|lactiferous gland alveolus|lobe of breast alveolus|lobe of mammary gland alveolus|mammary alveoli|alveolus of lobe of breast MA:0002760|FMA:73285|EMAPA:36566 uberon owl:Class UBERON:0001912 biolink:NamedThing lobule of mammary gland Organ component of the mammary gland which consists of an aggregate of mammary alveoli that communicate with a lobular lactiferous duct.[FMA]. tmpxe7fu0cj_hp_relaxed.owl lactiferous lobule|acinus of mammary gland|lobule of lactiferous gland|lactiferous acinus|mammary acinus|lactiferous gland lobule|mammary gland lobule|lobule of mammary gland EMAPA:36634|MA:0000793|FMA:62090 TODO - ensure correct terminology for lobes/lobules. In mouse there are no distinct lobes (ISBN:0123813611), here lobule appears to be synonymous with acinus uberon owl:Class UBERON:0000369 biolink:NamedThing corpus striatum The corpus striatum (striated body) is a compound structure consisting of the caudate nucleus and the lentiform nucleus, which consists of the putamen and the globus pallidus[WP]. tmpxe7fu0cj_hp_relaxed.owl striated body|striate body BAMS:CSTR|NCIT:C12448|GAID:667|EMAPA:17549|EHDAA2:0000596|BTO:0001311|MESH:A08.186.211.730.885.105.487|EFO:0000381|UMLS:C0010097|EV:0100184|CALOHA:TS-0183|FMA:77616|VHOG:0001175 * According to the 1917 version of Gray's Anatomy, it is the combination of the lentiform nucleus (also known as the lenticular nucleus) and the caudate nucleus * According to BrainInfo it is a part of the basal ganglia comprising the globus pallidus and striatum http://upload.wikimedia.org/wikipedia/commons/b/b3/Gray656.png UBERON:0010082 uberon owl:Class Thus, certain telencephalic characters - such as the presence of a pallium divided into lateral, dorsal, and medial formations and a subpallium divided into striatum and septum - appear to characterize all vertebrates. They are primitive characters and are homologous among all vertebrates.[well established][VHOG] The term has been used in a few different ways: * It is a pair of nuclear masses which form the basal ganglia, along with the subthalamic nucleus and the substantia nigra. * It may also refer to both the basal ganglia and internal capsule collectively.[2] UBERON:0011171 biolink:NamedThing joint connecting upper and lower jaws Synovial joint that articulates bones of upper and lower jaw. tmpxe7fu0cj_hp_relaxed.owl jaw joint|craniomandibular joint NCIT:C32888 uberon owl:Class Some synapsids retained two pairs of jaw joints - quadrate-articular and tempero-mandibular, but this unusual paired condition did not last long HP:0010569 biolink:NamedThing Elevated 7-dehydrocholesterol Elevated 7-dehydrocholesterol levels. tmpxe7fu0cj_hp_relaxed.owl Elevated levels of cholesta-5,7-dien-3beta-ol UMLS:C1849185 Elevated 7-dehydrocholesterol levels occur as the result of a deficiency of the enzyme delta-7-sterol reductase, the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development. Homozygous mutations in the gene encoding for this enzyme are the molecular genetic cause of Smith-Lemli-Opitz Syndrome. sandra1 2009-10-19T08:49:58Z human_phenotype owl:Class Ndfed9ff655eb4b9780a6b238cdd4985f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002006 biolink:NamedThing cortex of lymph node Peripheral portion of the lymph node, underneath the capsule[WP]. tmpxe7fu0cj_hp_relaxed.owl cortex nodi lymphoidei|lymph node cortex UMLS:C0933402|EMAPA:35525|FMA:66253|MA:0000740|NCIT:C33029 http://upload.wikimedia.org/wikipedia/commons/b/b8/Illu_lymph_node_structure.png uberon owl:Class GO:0003275 biolink:NamedThing apoptotic process involved in outflow tract morphogenesis Any apoptotic process that contributes to the shaping of the outflow tract. The outflow tract is the portion of the heart through which blood flows into the arteries. tmpxe7fu0cj_hp_relaxed.owl apoptosis involved in outflow tract morphogenesis dph 2009-10-20T09:30:01Z biological_process owl:Class UBERON:0010092 biolink:NamedThing future metencephalon A developing anatomical structure that has the potential to develop into a metencephalon. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000623 uberon owl:Class UBERON:8410004 biolink:NamedThing small intestine arteriole Arteriole of villus of small intestine. tmpxe7fu0cj_hp_relaxed.owl arteriole of villus of small intestine|small intestine villus arteriole|arteriole of small intestine http://orcid.org/0000-0002-2825-0621 uberon owl:Class UBERON:0003501 biolink:NamedThing retina blood vessel A blood vessel that is part of a retina [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of retina|blood vessel of inner layer of eyeball|inner layer of eyeball blood vessel|blood vessel of tunica interna of eyeball|tunica interna of eyeball blood vessel|retinal blood vessel EMAPA:36520|GAID:509|MESH:D012171|XAO:0004153|SCTID:280692003|MA:0001317 uberon owl:Class GO:0061141 biolink:NamedThing lung ciliated cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a lung ciliated cell. A lung ciliated cell is a specialized lung epithelial cell that contains cilia for moving substances released from lung secretory cells. tmpxe7fu0cj_hp_relaxed.owl dph 2010-05-25T09:31:14Z biological_process owl:Class CL:1000271 biolink:NamedThing lung ciliated cell tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:1904098 biolink:NamedThing regulation of protein O-linked glycosylation Any process that modulates the frequency, rate or extent of protein O-linked glycosylation. tmpxe7fu0cj_hp_relaxed.owl regulation of protein amino acid O-linked glycosylation krc 2015-03-27T16:09:58Z biological_process owl:Class GO:0006493 biolink:NamedThing protein O-linked glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. tmpxe7fu0cj_hp_relaxed.owl protein amino acid O-linked glycosylation RESID:AA0212|RESID:AA0154|RESID:AA0157|RESID:AA0155|RESID:AA0153 biological_process owl:Class N7f56ecabe4804718a41d070e7d9b2de2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1494c55b26694f51bfe2c87336e856a5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035554 biolink:NamedThing right cardiac chamber Any chamber of the right side of the heart. tmpxe7fu0cj_hp_relaxed.owl FMA:7165|SCTID:362007002 uberon owl:Class UBERON:0001959 biolink:NamedThing white pulp of spleen The parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies. tmpxe7fu0cj_hp_relaxed.owl splenic white pulp|pulpa alba|white pulp|noduli lymphoidei splenici|spleen white pulp EMAPA:35809|MA:0000762|FMA:62805|NCIT:C12993|UMLS:C0229686|CALOHA:TS-1264 http://upload.wikimedia.org/wikipedia/commons/1/15/Gray1191.png uberon owl:Class The white pulp contains T cells, B cells and accessory cells. The function of the white pulp is to mount an immunological response to antigens within the blood. The white pulp is present in the form of a periarteriolar lymphoid sheath. This sheath contains B cell follicles and T cells. At the edge of the T zone is a region known as the marginal zone where larger lymphocytes and antigen presenting dendritic cells are located. [Wikipedia:White_pulp] PATO:0002478 biolink:NamedThing transversely striated A shape quality inhering in a bearer by virtue of the bearer's being marked by narrow lines or grooves, usually parallel, that are oriented transversely relative to the long axis of the bearer. tmpxe7fu0cj_hp_relaxed.owl 2013-09-15T12:29:15Z quality owl:Class GO:0022408 biolink:NamedThing negative regulation of cell-cell adhesion Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell. tmpxe7fu0cj_hp_relaxed.owl down-regulation of cell-cell adhesion|inhibition of cell-cell adhesion|down regulation of cell-cell adhesion|downregulation of cell-cell adhesion biological_process owl:Class HP:3000069 biolink:NamedThing Abnormality of lateral rectus extra-ocular muscle An abnormality of a lateral rectus extra-ocular muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073276 vasilevs 2015-08-07T03:38:44Z owl:Class N6f9274b21c58415f806851d9e0fd2000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100643 biolink:NamedThing Abnormality of nail color An anomaly of the color of the nail. tmpxe7fu0cj_hp_relaxed.owl Abnormality of nail color|Nail dyschromia|Abnormality of nail colour UMLS:C4020960 doelkens 2010-12-29T05:59:15Z owl:Class N872a93c4852e4ffd82561a4d37e24643 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:000001850 biolink:NamedThing cathepsin K A cathepsin-like protease that is a translation product of the human CTSK gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl cathepsin O2|CTSO|CTSK|CTSO2|cathepsin O|cathepsin X IUPHARobj:2350 Category=gene. Requested by=CL. protein owl:Class Ne64cd349952943a2b384ee52bb1d426e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0070166 biolink:NamedThing enamel mineralization The process in which calcium salts, mainly carbonated hydroxyapatite, are deposited in tooth enamel. tmpxe7fu0cj_hp_relaxed.owl enamel formation biological_process owl:Class UBERON:0013493 biolink:NamedThing abdominal fascia A fascia that is part of a abdomen. tmpxe7fu0cj_hp_relaxed.owl endo-abdominopelvic fascia|fascia of abdomen FMA:19841 uberon owl:Class PR:P04275 biolink:NamedThing von Willebrand factor (human) A von Willebrand factor that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl vWF (human)|F8VWF|hVWF|VWF UniProtKB:P04275 Category=organism-gene. protein owl:Class GO:1904754 biolink:NamedThing positive regulation of vascular associated smooth muscle cell migration Any process that activates or increases the frequency, rate or extent of vascular associated smooth muscle cell migration. tmpxe7fu0cj_hp_relaxed.owl up regulation of vascular associated smooth muscle cell migration|up regulation of vascular smooth muscle cell migration|upregulation of vascular smooth muscle cell migration|activation of vascular smooth muscle cell migration|upregulation of vascular associated smooth muscle cell migration|up-regulation of vascular smooth muscle cell migration|up-regulation of vascular associated smooth muscle cell migration|positive regulation of vascular smooth muscle cell migration|activation of vascular associated smooth muscle cell migration rph 2015-10-19T15:50:05Z biological_process owl:Class GO:1904738 biolink:NamedThing vascular associated smooth muscle cell migration The orderly movement of a vascular associated smooth muscle cell from one site to another. tmpxe7fu0cj_hp_relaxed.owl vascular smooth muscle cell migration rph 2015-10-15T09:56:00Z biological_process owl:Class GO:0032963 biolink:NamedThing collagen metabolic process The chemical reactions and pathways involving collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). tmpxe7fu0cj_hp_relaxed.owl collagen metabolism biological_process owl:Class UBERON:0005208 biolink:NamedThing right atrium valve A valve that is part of a right atrium [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl superior vena cava valve|valve of right atrium|right atrium valves MA:0001871|EHDAA2:0000302|EMAPA:17327 uberon owl:Class N54983981c8944bb997f995848bfefd2c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009198 biolink:NamedThing craniofacial suture Any suture between cranial and/or facial bones. tmpxe7fu0cj_hp_relaxed.owl articulation of skull bones|joint of the skull bones we follow GO in dividing sutures into cranial and facial and making a grouping class, but this is not consistent with FMA uberon owl:Class HP:0410212 biolink:NamedThing Hyperoxemia in cord blood An abnormally high level of blood oxygen in the cord blood. tmpxe7fu0cj_hp_relaxed.owl High cord blood oxygen level 2018-09-12 00:44:20+00:00 owl:Class N8b2be87b4daa427b933bfa424db608f6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0000460 biolink:NamedThing abnormal A quality inhering in a bearer by virtue of the bearer's deviation from normal or average. tmpxe7fu0cj_hp_relaxed.owl aberrant|atypical|defective|atypia quality owl:Class PATO:0000322 biolink:NamedThing red A color hue with high wavelength of the long-wave end of the visible spectrum, evoked in the human observer by radiant energy with wavelengths of approximately 630 to 750 nanometers. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class UBERON:0008833 biolink:NamedThing great auricular nerve A nerve arising from the second and third cervical nerves from the cervical plexus and innervating the skin over the parotid gland, the skin of part of the ear, the adjacent portion of the scalp, cheek, and angle of the jaw. tmpxe7fu0cj_hp_relaxed.owl great auricular|nervus auricularis magnus|greater auricular nerve FMA:6872 http://upload.wikimedia.org/wikipedia/commons/d/dc/Gray805.png uberon owl:Class UBERON:0010330 biolink:NamedThing eyelid mesenchyme Mesenchyme that is part of a developing eyelid. tmpxe7fu0cj_hp_relaxed.owl EMAPA:32759 uberon owl:Class Ndfe2944bb10d401f9ab802ccc5a8ace6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002194 biolink:NamedThing monopoietic cell A cell involved in the formation of a monocyte (monopoiesis). tmpxe7fu0cj_hp_relaxed.owl FMA:83552 tmeehan 2010-08-30T01:27:48Z cell owl:Class UBERON:0005725 biolink:NamedThing olfactory system A sensory system that is capable of olfaction (the sensory perception of smell). tmpxe7fu0cj_hp_relaxed.owl TAO:0001149|NLXANAT:090806|BILA:0000144|AAO:0000334|FMA:7190|EMAPA:36004|NCIT:C94501|XAO:0003196|UMLS:C0228065|AAO:0000978|OpenCyc:Mx4rvViw75wpEbGdrcN5Y29ycA|EFO:0001973|ZFA:0001149|MA:0002445 consider splitting into main and accessory. See also: vomeronasal organ|we make the relationship to nervous system 'overlaps', as the olfactory system includes e.g. apertures in the cranium that are not part of the nervous system uberon owl:Class The sensory system used for olfaction (the sense of smell).[AAO]|The olfactory system is the sensory system used for olfaction, or the sense of smell. Most mammals and reptiles have two distinct parts to their olfactory system: a main olfactory system and an accessory olfactory system. The main olfactory system detects volatile, airborne substances, while the accessory olfactory system senses fluid-phase stimuli. Behavioral evidence indicates that most often, the stimuli detected by the accessory olfactory system are pheromones. The olfactory system is often spoken of along with the gustatory system as the chemosensory senses because both transduce chemical signals into perception[WP][Wikipedia:Olfactory_system]. In mammals, the main olfactory system detects odorants that are inhaled through the nose, where they contact the main olfactory epithelium, which contains various olfactory receptors. These olfactory receptors are membrane proteins of bipolar olfactory receptor neurons in the olfactory epithelium. Rather than binding specific ligands like most receptors, olfactory receptors display affinity for a range of odor molecules. Olfactory neurons transduce receptor activation into electrical signals in neurons. The signals travel along the olfactory nerve, which belongs to the peripheral nervous system. This nerve terminates in the olfactory bulb, which belongs to the central nervous system. The complex set of olfactory receptors on different olfactory neurons can distinguish a new odor from the background environmental odors and determine the concentration of the odor[WP]. CHEBI:35744 biolink:NamedThing carbocyclic fatty acid Any fatty acid containing a ring composed of carbon atoms. tmpxe7fu0cj_hp_relaxed.owl carbocyclic fatty acids chebi_ontology owl:Class UBERON:0014699 biolink:NamedThing extraembryonic venous system A venous system that overlaps a umbilical cord and is part of a entire extraembryonic component. tmpxe7fu0cj_hp_relaxed.owl VHOG:0000282|EMAPA:16374|EHDAA2:0000479 uberon owl:Class N18e85434c35c429a82144bbb01edd029 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009262 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 4th finger An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the innermost bone of the ring finger|Bracket proximal epiphysis of the ring finger UMLS:C4021506 doelkens 2009-01-07T12:12:59Z HP:0004200 human_phenotype owl:Class Nf39c942f122240aaaa0edb7b535cccbd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N289ed3dbb50248bda3c14dea300ac93d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na6f3384e4b5947c8af7d28a200e37414 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008669 biolink:NamedThing Abnormal spermatogenesis Incomplete maturation or aberrant formation of the male gametes. tmpxe7fu0cj_hp_relaxed.owl Abnormal sperm development|Impaired spermatogenesis UMLS:C0520933|SNOMEDCT_US:4529005|UMLS:C4020789 human_phenotype owl:Class N30ebeca2449b4724ac4c4a223714edc8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne0a1f03636ca4773aa90bd67f213eace biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0002198 biolink:NamedThing quality of a substance A quality inhering in a bearer by virtue of its constitution. tmpxe7fu0cj_hp_relaxed.owl 2010-03-15T04:35:27Z quality owl:Class GO:0045759 biolink:NamedThing negative regulation of action potential Any process that stops, prevents, or reduces the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpxe7fu0cj_hp_relaxed.owl inhibition of action potential|downregulation of action potential|down regulation of action potential|down-regulation of action potential biological_process owl:Class HP:0002921 biolink:NamedThing Abnormality of the cerebrospinal fluid An abnormality of the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl Abnormal CSF findings|Abnormality of the CSF UMLS:C0151583 The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain). owl:Class N5b638d54dce640b9a61a91b3b3b6f76c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006378 biolink:NamedThing Osteolysis of patellae tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025051 human_phenotype owl:Class Ndcf68709cbaa44dea75bbf8402eb34e2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003333 biolink:NamedThing submucosa of jejunum A submucosa that is part of a jejunum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl jejunum submucosa|jejunal submucosa FMA:14950|EMAPA:27111 uberon owl:Class N03a09766ce394fdd8eb96cd29a132cff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006183 biolink:NamedThing mesonephric glomerular capillary tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0055067 biolink:NamedThing monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N19f650b422b74a779900f09d69d4e0a2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1cbaeb8cdae442beb096ee4e820a8fa2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001432 biolink:NamedThing distal carpal bone 3 tmpxe7fu0cj_hp_relaxed.owl hand distal carpal bone 3|magnum|capitate|os magnum (carpus)|capitate bone|distal carpal 3|carpal 3|os capitatum|os magnum OpenCyc:Mx4rvZFPrZwpEbGdrcN5Y29ycA|NCIT:C12856|MA:0001342|AAO:0000849|UMLS:C0223733|FMA:23727|EMAPA:36169|galen:Capitate|VSAO:0005045 http://upload.wikimedia.org/wikipedia/commons/5/50/Carpus.png uberon owl:Class Small element that articulates anteriorly with metacarpal III(II). It may be fused to carpals 2(1), 4(3), 5(4), or other elements.[AAO] medially located and articulates with metacarpals 2-4, distal carpal 5 and the intermedium[VSAO] In the human hand, the capitate bone is the largest of the carpal bones, and occupies the center of the wrist - The capitate articulates with seven bones: the scaphoid and lunate proximally, the second metacarpal, third metacarpal, and fourth metacarpal distally, the lesser multangular on the radial side, and the hamate on the ulnar side HP:0000031 biolink:NamedThing Epididymitis The presence of inflammation of the epididymis. tmpxe7fu0cj_hp_relaxed.owl MSH:D004823|UMLS:C0014534|SNOMEDCT_US:31070006 human_phenotype owl:Class Nc2d2ddf8494e445b890d87f26aef9797 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010499 biolink:NamedThing pseudostratified ciliated columnar epithelium Epithelium composed of a single layer of cells, appearing as layered because the column-shaped cells vary in height so the nuclei are at different levels. The basal portions of all the cells are in contact with the basement membrane. It lines the respiratory system and the male reproductive tract. The cilia in the respiratory tract are motile, while the stereocilia in the male reproductive tract are immobile. tmpxe7fu0cj_hp_relaxed.owl epithelium pseudostratificatum columnare ciliatum (trachea et bronchi) UMLS:C0506992|NCIT:C13181|FMA:13146 uberon owl:Class GO:0061853 biolink:NamedThing regulation of neuroblast migration Any process that modulates the frequency, rate or extent of neuroblast migration. tmpxe7fu0cj_hp_relaxed.owl dph 2017-03-08T18:17:07Z biological_process owl:Class HP:0100856 biolink:NamedThing Poorly ossified vertebrae Decreased ossification of the vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021953 doelkens 2011-11-30T09:59:32Z human_phenotype owl:Class Ne63f14054e1245e3a46a3b7bec410f5d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb22540cfbcf24cf7bd396e1ec702616e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000029 biolink:NamedThing Testicular atrophy Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. tmpxe7fu0cj_hp_relaxed.owl Testicular degeneration UMLS:C0156312|SNOMEDCT_US:17585008 human_phenotype owl:Class N585aacff9d864ac18324c03d32ac3f0f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011375 biolink:NamedThing skin of prepuce of clitoris A zone of skin that is part of a prepuce of clitoris. tmpxe7fu0cj_hp_relaxed.owl preputial skin of clitoris FMA:27886 uberon owl:Class N6391ccdc9dd049a4ade4ecbbb2832dc5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002337 biolink:NamedThing endometrial stroma The layer of connective tissue comprised of the endometrial lining of the uterus which fluctuates in thickness throughout the menstrual cycle. tmpxe7fu0cj_hp_relaxed.owl endometrium stroma|stroma of endometrium UMLS:C0227849|FMA:86487|EMAPA:35310|MA:0002734|CALOHA:TS-1266|NCIT:C32516 uberon owl:Class GO:0002698 biolink:NamedThing negative regulation of immune effector process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune effector process. tmpxe7fu0cj_hp_relaxed.owl inhibition of immune effector process|downregulation of immune effector process|down regulation of immune effector process|down-regulation of immune effector process biological_process owl:Class N8899c7eb13ee41f186c3b1e340706e69 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001596 biolink:NamedThing increased depth A depth quality which is relatively high. tmpxe7fu0cj_hp_relaxed.owl deep PATO:0001666 quality owl:Class UBERON:0002123 biolink:NamedThing cortex of thymus The outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes. tmpxe7fu0cj_hp_relaxed.owl thymic cortex|thymus cortex NCIT:C33774|BTO:0002934|EMAPA:35863|UMLS:C0229948|FMA:72205|MA:0000767 uberon owl:Class Histologically, the thymus can be divided into a central medulla and a peripheral cortex which is surrounded by an outer capsule. The cortex and medulla play different roles in the development of T cells. Cells in the thymus can be divided into thymic stromal cells and cells of hematopoietic origin[WP] N68baaf39770a46cf92038ed717d8e635 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013139 biolink:NamedThing ligament of liver A nonskeletal ligament that is part of a liver. tmpxe7fu0cj_hp_relaxed.owl hepatic ligament|liver ligament FMA:15820|NCIT:C32997|UMLS:C0230238 uberon owl:Class Naa2cac8078ba4236aaf848eb7fb2db4b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0019953 biolink:NamedThing sexual reproduction A reproduction process that creates a new organism by combining the genetic material of two gametes, which may come from two organisms or from a single organism, in the case of self-fertilizing hermaphrodites, e.g. C. elegans, or self-fertilization in plants. It occurs both in eukaryotes and prokaryotes: in multicellular eukaryotic organisms, an individual is created anew; in prokaryotes, the initial cell has additional or transformed genetic material. In a process called genetic recombination, genetic material (DNA) originating from two gametes join up so that homologous sequences are aligned with each other, and this is followed by exchange of genetic information. After the new recombinant chromosome is formed, it is passed on to progeny. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Sexual_reproduction Sexual reproduction may be seen as the regular alternation, in the life cycle of haplontic, diplontic and diplohaplontic organisms, of meiosis and fertilization which provides for the production offspring. In diplontic organisms there is a life cycle in which the products of meiosis behave directly as gametes, fusing to form a zygote from which the diploid, or sexually reproductive polyploid, adult organism will develop. In diplohaplontic organisms a haploid phase (gametophyte) exists in the life cycle between meiosis and fertilization (e.g. higher plants, many algae and Fungi); the products of meiosis are spores that develop as haploid individuals from which haploid gametes develop to form a diploid zygote; diplohaplontic organisms show an alternation of haploid and diploid generations. In haplontic organisms meiosis occurs in the zygote, giving rise to four haploid cells (e.g. many algae and protozoa), only the zygote is diploid and this may form a resistant spore, tiding organisms over hard times. biological_process owl:Class UBERON:0011693 biolink:NamedThing extraembryonic portion of umbilical artery tmpxe7fu0cj_hp_relaxed.owl extraembryonic umbilical artery VHOG:0001157 uberon owl:Class UBERON:0007807 biolink:NamedThing connecting stalk vasculature A vasculature that is part of a connecting stalk. tmpxe7fu0cj_hp_relaxed.owl connecting stalk blood vessel|connecting stalk blood vessels|vasculature of connecting stalk EHDAA2:0000313 uberon owl:Class UBERON:0000988 biolink:NamedThing pons The part of the central nervous system lying between the medulla oblongata and the midbrain, ventral to the cerebellum. tmpxe7fu0cj_hp_relaxed.owl pons cerebri|pons Varolii|pons of Varolius FMA:67943|Wikipedia:Pons|BM:Pons|GAID:578|MBA:771|EV:0100253|DHBA:10661|SCTID:279103004|MESH:D011149|HBA:9131|MIAA:0000115|MA:0000204|BAMS:PONS|BTO:0001101|EHDAA2:0004394|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=547|CALOHA:TS-0813|UMLS:C0032639|NCIT:C12511|MAT:0000115|VHOG:0001176|EMAPA:17563|EFO:0001394|UMLS:C1280999|BAMS:Pons|BIRNLEX:733 http://upload.wikimedia.org/wikipedia/commons/3/36/Gray768.png The pons is not present in zebrafish. In this ontology we currently have some structures which are applicable to zebrafish appearing as parts of the pons. Currently we only include the weaker dubious_for_taxon relationship ubtil this is resolved uberon owl:Class The part of the central nervous system lying between the medulla oblongata and the midbrain, ventral to the cerebellum. [TFD][VHOG] During the embryonic development of birds and mammals, neuroblasts migrate from the cerebellum into the ventral part of the rhombencephalon and differentiate into pontine and other nuclei, which relay information from between the cerebrum and cerebellum, and a conspicuous band of transverse fibers. This region is known as the pons. A pons does not differentiate in reptiles and anamniotes (...).[well established][VHOG] GO:0051319 biolink:NamedThing G2 phase The cell cycle 'gap' phase which is the interval between the completion of DNA synthesis and the beginning of DNA segregation (usually by mitosis or meiosis). tmpxe7fu0cj_hp_relaxed.owl Wikipedia:G2_phase Note that this term should not be used for direct annotation. If you are trying to make an annotation to x phase, it is likely that the correct annotation is 'regulation of x/y phase transition' or to a process which occurs during the reported phase (i.e mitotic DNA replication for mitotic S-phase). To capture the phase when a specific location or process is observed, the phase term can be used in an annotation extension (PMID:24885854) applied to a cellular component term (with the relation exists_during) or a biological process term (with the relation happens_during). biological_process owl:Class GO:0051325 biolink:NamedThing interphase The cell cycle phase following cytokinesis which begins with G1 phase, proceeds through S phase and G2 phase and ends when prophase of meiosis or mitosis begins. During interphase the cell readies itself for meiosis or mitosis and the replication of its DNA occurs. tmpxe7fu0cj_hp_relaxed.owl resting phase|karyostasis Wikipedia:Interphase Note that this term should not be used for direct annotation. If you are trying to make an annotation to x phase, it is likely that the correct annotation is 'regulation of x/y phase transition' or to a process which occurs during the reported phase (i.e mitotic DNA replication for mitotic S-phase). To capture the phase when a specific location or process is observed, the phase term can be used in an annotation extension (PMID:24885854) applied to a cellular component term (with the relation exists_during) or a biological process term (with the relation happens_during). biological_process owl:Class HP:0009297 biolink:NamedThing Osteolytic defects of the middle phalanx of the 4th finger Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024461 doelkens 2009-01-08T04:59:22Z human_phenotype owl:Class N4e254a3d5ce74dc6977e6ac9071df34a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:84186 biolink:NamedThing L-proline derivative A proteinogenic amino acid derivative resulting from reaction of L-proline at the amino group or the carboxy group, or from the replacement of any hydrogen of L-proline by a heteroatom. tmpxe7fu0cj_hp_relaxed.owl L-proline derivatives chebi_ontology owl:Class GO:0060935 biolink:NamedThing cardiac fibroblast cell differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cardiac fibroblast. A cardiac fibroblast is a connective tissue cell in the heart which secretes an extracellular matrix rich in collagen and other macromolecules. tmpxe7fu0cj_hp_relaxed.owl dph 2009-09-29T01:20:04Z biological_process owl:Class CHEBI:86508 biolink:NamedThing alpha-aminobutyrate An alpha-amino-acid anion that is the conjugate base of alpha-aminobutyric acid. tmpxe7fu0cj_hp_relaxed.owl 2-aminobutanoate -1 C4H8NO2 InChI=1S/C4H9NO2/c1-2-3(5)4(6)7/h3H,2,5H2,1H3,(H,6,7)/p-1 QWCKQJZIFLGMSD-UHFFFAOYSA-M 102.11240 102.05605 CCC(N)C([O-])=O PMID:24023812 chebi_ontology owl:Class PR:P53566 biolink:NamedThing CCAAT/enhancer-binding protein alpha (mouse) A CCAAT/enhancer-binding protein alpha that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl mCEBPA|Cebpa|Cebp|C/EBP alpha (mouse) UniProtKB:P53566 Category=organism-gene. protein owl:Class UBERON:0004666 biolink:NamedThing interventricular septum membranous part The membranous portion of the wall between the two lower chambers of the heart. tmpxe7fu0cj_hp_relaxed.owl pars membranacea septi interventricularis|membranous part of interventricular septum|membranous part interventricular septum|ventricular membranous septum|cardiac ventricular membranous septum|ventricle membranous septum|membranous interventricular septum|pars membranacea (septi interventricularis)|membranous septum|membranous portion of interventricular septum FMA:7135|VHOG:0000927|MA:0002939|EMAPA:18246|EHDAA2:0004596 UBERON:0004143 uberon owl:Class The membranous septum is the upper part of ventricular septum[GO:0003149]. GO:0150098 biolink:NamedThing glial cell-neuron signaling Cell-cell signaling that mediates the transfer of information from a glial cell to a neuron. This signaling has been shown to be mediated by various molecules, depending on which glial cells release them, and in which tissues the signalling occurs, e.g. microglial cell-derived nerve growth factor (NGF) in the retina, or microglial cell-derived superoxide ions in the cerebellum. tmpxe7fu0cj_hp_relaxed.owl glia-neurone signaling|glial cell-neurone signalling|glia-neuron signalling|glial cell-neurone singaling|glial cell- neuron signalling|glia-neuron signaling|glia-neurone signalling bc 2018-12-17T12:28:09Z biological_process owl:Class HP:0002375 biolink:NamedThing Hypokinesia Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. tmpxe7fu0cj_hp_relaxed.owl Decreased spontaneous movement|Decreased muscle movement|Decreased spontaneous movements SNOMEDCT_US:255385008|MSH:D018476|UMLS:C0086439|SNOMEDCT_US:43994002 HP:0002603|HP:0006795 human_phenotype owl:Class Nc12eb5e90a9b41d4bf56f2ec8e558ef5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1903180 biolink:NamedThing negative regulation of dopamine biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of dopamine biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl down regulation of dopamine biosynthetic process|downregulation of dopamine synthesis|negative regulation of dopamine biosynthesis|down regulation of dopamine synthesis|down regulation of dopamine formation|downregulation of dopamine biosynthetic process|inhibition of dopamine anabolism|down-regulation of dopamine synthesis|downregulation of dopamine formation|negative regulation of dopamine synthesis|inhibition of dopamine biosynthesis|downregulation of dopamine anabolism|down-regulation of dopamine formation|down-regulation of dopamine anabolism|down regulation of dopamine biosynthesis|downregulation of dopamine biosynthesis|inhibition of dopamine synthesis|negative regulation of dopamine formation|down-regulation of dopamine biosynthesis|inhibition of dopamine formation|down regulation of dopamine anabolism|negative regulation of dopamine anabolism|inhibition of dopamine biosynthetic process|down-regulation of dopamine biosynthetic process bf 2014-07-14T12:17:47Z biological_process owl:Class HP:0009915 biolink:NamedThing Corneal asymmetry The presence of a size difference between the left and right cornea. tmpxe7fu0cj_hp_relaxed.owl Asymmetry of the corneas UMLS:C4021373 peter 2009-05-02T05:06:20Z human_phenotype owl:Class Nba534e6afa7e4b5f8e0a8bb418f7bdfd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0016412 biolink:NamedThing central part of body of bony vertebral centrum tmpxe7fu0cj_hp_relaxed.owl central part of body of vertebra FMA:24003 uberon owl:Class UBERON:0001701 biolink:NamedThing glossopharyngeal ganglion The group of neuron cell bodies associated with the ninth cranial nerve. tmpxe7fu0cj_hp_relaxed.owl gIX|petrosal ganglion|ganglion of glosspharyngeal nerve|ganglion of glossopharyngeal nerve|glossopharyngeal IX ganglion SCTID:244451008|EMAPA:16795|FMA:53471|VHOG:0000702|TAO:0001301|MA:0001077|EHDAA:2838|ZFA:0001301|EHDAA2:0000710 uberon owl:Class These (the epibranchial placodes) are focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches in all vertebrates, and they produce the neuroblasts which migrate and condense to form the distal cranial ganglia: the geniculate, petrosal and nodose ganglia. (...) The one substantial difference between the vertebrate pharyngeal arches and those of the protochordates is the presence of the epibranchial placodes but the evolution of these structures was undoubtedly driven by the endoderm.[well established][VHOG] UBERON:0009125 biolink:NamedThing petrosal placode Epibranchial placode between geniculate and nodose. Associated with 2nd branchial cleft. tmpxe7fu0cj_hp_relaxed.owl glossopharyngeal placode|epibranchial placode 2|glossopharyngeal epibranchial placode|glossopharyngeal IX placode ZFA:0001296|EHDAA2:0004207|TAO:0001296|XAO:0004212 Taxonomic equivalence to EHDAA2 class made on basis of shared development: gives rise to glossopharyngeal ganglion uberon owl:Class UBERON:0002331 biolink:NamedThing umbilical cord The connecting cord from the developing embryo to the placenta. tmpxe7fu0cj_hp_relaxed.owl birth cord|yolk stalk|chorda umbilicalis|funiculus umbilicalis|connecting stalk EMAPA:26115|OpenCyc:Mx4rvyewDJwpEbGdrcN5Y29ycA|EV:0100127|EFO:0001415|MIAA:0000280|FMA:85541|GAID:517|BTO:0001415|MESH:A16.254.789|MAT:0000280|EHDAA2:0000312|EHDAA:158|CALOHA:TS-1078|UMLS:C0041633|NCIT:C34320 See notes for connecting stalk http://upload.wikimedia.org/wikipedia/commons/f/f3/Umbilicalcord.jpg uberon owl:Class The connecting cord from the developing embryo or fetus to the placenta. During prenatal development, the umbilical cord comes from the same zygote as the fetus and (in humans) normally contains two arteries (the umbilical arteries) and one vein (the umbilical vein), buried within Wharton's jelly. The umbilical vein supplies the fetus with oxygenated, nutrient-rich blood from the placenta.property_value, external_definition the umbilical arteries return the deoxygenated, nutrient-depleted blood[WP]. umbilical HP:0410244 biolink:NamedThing Abnormal circulating IgD level An abnormal deviation from normal levels of IgD immunoglobulin in blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal IgD level in blood 2018-10-12 20:42:13+00:00 owl:Class Nb7458c3660c142029e92002edcba945b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002237 biolink:NamedThing true rib A rib that is ventrally connected to the sternum. tmpxe7fu0cj_hp_relaxed.owl costa vera|costae verae FMA:7592|MA:0001419|OpenCyc:Mx4rv4-iWJwpEbGdrcN5Y29ycA|EMAPA:37774 http://upload.wikimedia.org/wikipedia/commons/3/3d/Gray115.png uberon owl:Class UBERON:8300002 biolink:NamedThing left forelimb A forelimb that is on the left side of a pectoral complex. tmpxe7fu0cj_hp_relaxed.owl FMA:7186 http://orcid.org/0000-0001-9897-3238 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0005795 biolink:NamedThing embryonic uterus tmpxe7fu0cj_hp_relaxed.owl fetal uterus FMA:72173 uberon owl:Class N133e132dbf894026a9860e9737dcb21f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:36145 biolink:NamedThing oxo dicarboxylic acid Any dicarboxylic acid carrying one or more oxo groups. tmpxe7fu0cj_hp_relaxed.owl oxo dicarboxylic acids chebi_ontology owl:Class CHEBI:133294 biolink:NamedThing oxo dicarboxylic acid dianion A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of any oxo dicarboxylic acid. tmpxe7fu0cj_hp_relaxed.owl oxo dicarboxylic acid dianions|oxo dicarboxylic acid chebi_ontology owl:Class HP:0008740 biolink:NamedThing Longitudinal vaginal septum The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication. tmpxe7fu0cj_hp_relaxed.owl Vertical vaginal septum UMLS:C1841680 HP:0008698 human_phenotype owl:Class N3a2289508f054157a5314979bc7b676b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011390 biolink:NamedThing pudendal nerve The pudendal nerve is a somatic nerve in the pelvic region that innervates the external genitalia of both sexes, as well as sphincters for the bladder and the rectum. It originates in Onuf's nucleus in the sacral region of the spinal cord. tmpxe7fu0cj_hp_relaxed.owl internal pudendal nerve|pudenal nerve|pudendal FMA:19037 uberon owl:Class N8d6a9605ca7341b8bb5c041fb73c5266 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0018302 biolink:NamedThing upper molar 1 First molar (counting anteroposteriorly) in the upper jaw. tmpxe7fu0cj_hp_relaxed.owl UBERONTEMP:12acbe6c-9036-48e3-b1a0-1f2fdaa0241d uberon owl:Class HP:0041082 biolink:NamedThing Fractured skull A partial or complete breakage of the skull. tmpxe7fu0cj_hp_relaxed.owl bone skull owl:Class HP:0000648 biolink:NamedThing Optic atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. tmpxe7fu0cj_hp_relaxed.owl Optic-nerve degeneration|Optic nerve atrophy MSH:D009896|SNOMEDCT_US:76976005|UMLS:C0029124 The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. HP:0007855|HP:0007751 human_phenotype owl:Class HP:0012795 biolink:NamedThing Abnormality of the optic disc A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3808249 The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. peter 2014-05-24T04:37:10Z human_phenotype owl:Class PR:000018264 biolink:NamedThing proteolytic cleavage product tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0005251 biolink:NamedThing yolk sac cavity An anatomical cavity that is part of a yolk sac [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl cavity of yolk sac|yolk sac space|yolk sac lumen VHOG:0000843|EMAPA:16055|FMA:63942 uberon owl:Class In mammals, the yolk sac cavity contains fluid rather than platelets in EHDAA2, there are separate primary and secondary yolk sac cavities UBERON:0010536 biolink:NamedThing nephron progenitor tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0010532 biolink:NamedThing primitive nephron An epithelial tube that is fated to become a nephron. tmpxe7fu0cj_hp_relaxed.owl developing nephron|primitive nephron|future nephron|presumptive nephron uberon owl:Class EHDAA2 treats this as already having a tubular structure, but in the ZFA representation this is a cluster of cells HP:0012119 biolink:NamedThing Methemoglobinemia Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:38959009|SNOMEDCT_US:131171006|MSH:D008708|UMLS:C0025637 hecht 2012-09-16T05:42:35Z human_phenotype owl:Class HP:0000548 biolink:NamedThing Cone/cone-rod dystrophy tmpxe7fu0cj_hp_relaxed.owl Cone-rod retinal dystrophy|Cone rod dystrophy MSH:D012174 HP:0008157 owl:Class HP:0003159 biolink:NamedThing Hyperoxaluria Increased excretion of oxalates in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine oxalate levels|Increased level of oxalate in urine SNOMEDCT_US:367621000119107|UMLS:C0020500|MSH:D006959 human_phenotype owl:Class HP:0009690 biolink:NamedThing Fragmentation of thumb epiphysis Epiphysis of the thumb having multiple bony fragments. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the epiphyses of the thumb|Fragmentation of end part of long bone of thumb UMLS:C4021405 doelkens 2009-01-30T09:20:16Z human_phenotype owl:Class HP:0010291 biolink:NamedThing Prominent palatine ridges Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge. tmpxe7fu0cj_hp_relaxed.owl Prominent palatine folds|Prominent lateral palatal ridges|Large lateral palatal folds|Large lateral palatal ridges|Prominent lateral palatal folds UMLS:C4021300 Soft tissue folds are typically present on the lateral sides of the palate, especially anteriorly. peter 2009-07-12T11:33:40Z human_phenotype owl:Class HP:0033461 biolink:NamedThing Elevated circulating 3-hydroxylinoleylcarnitine concentration Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH 2021-01-09 22:23:15+00:00 peter owl:Class HP:0045045 biolink:NamedThing Elevated circulating acylcarnitine concentration An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. tmpxe7fu0cj_hp_relaxed.owl Elevated plasma acylcarnitine levels UMLS:C4073171 HPO:skoehler owl:Class UBERON:0002485 biolink:NamedThing prostate duct The minute canals that pass the prostatic secretions to the urethra. tmpxe7fu0cj_hp_relaxed.owl prostate duct|prostate gland duct|duct of prostate gland|prostatic duct|duct of prostate MA:0002785|EMAPA:36568|NCIT:C13102|UMLS:C0227965|FMA:19580 uberon owl:Class HP:0003452 biolink:NamedThing Increased serum iron tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:165624002|UMLS:C0151900 human_phenotype owl:Class HP:0040130 biolink:NamedThing Abnormal serum iron concentration tmpxe7fu0cj_hp_relaxed.owl UMLS:C0235760 HPO:skoehler owl:Class HP:0040099 biolink:NamedThing Abnormality of the round window tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022441 HPO:skoehler owl:Class UBERON:0005221 biolink:NamedThing liver right lobe parenchyma A parenchyma that is part of a right lobe of liver [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl parenchyma of right lobe of liver FMA:71657|EMAPA:18317|VHOG:0000840|EHDAA2:0001010 uberon owl:Class HP:0025431 biolink:NamedThing Staccato cry A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 13:07:13+00:00 HPO:probinson owl:Class HP:0031299 biolink:NamedThing Elevated left atrial pressure An abnormal increase in magnitude of the pressure in the left atrium. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 21:54:47+00:00 peter owl:Class HP:0025443 biolink:NamedThing Abnormal cardiac atrial physiology An abnormality of the function of the cardiac atria. tmpxe7fu0cj_hp_relaxed.owl 2017-04-29 17:10:13+00:00 HPO:probinson owl:Class UBERON:0034878 biolink:NamedThing prechordal mesoderm The area of axial mesoderm that develops into the prechordal plate. tmpxe7fu0cj_hp_relaxed.owl prechordal mesenchyme uberon owl:Class HP:0003090 biolink:NamedThing Hypoplasia of the capital femoral epiphysis Underdevelopment of the proximal epiphysis of the femur. tmpxe7fu0cj_hp_relaxed.owl Small femoral capital epiphyses|Small capital femoral epiphyses|Underdevelopment of the innermost thighbone end part|Small proximal femoral epiphyses|Small innermost thighbone end part UMLS:C1839254 HP:0008792|HP:0003374|HP:0008791 human_phenotype owl:Class HP:0005401 biolink:NamedThing Recurrent candida infections An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections. tmpxe7fu0cj_hp_relaxed.owl Frequent candida infections UMLS:C1860128 human_phenotype owl:Class UBERON:0011641 biolink:NamedThing odontogenic mesenchyme of molar An odontogenic papilla that is part of a molar tooth [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl molar mesenchyme|odontogenic mesenchyme of molar tooth EMAPA:32881|MA:0003230 uberon owl:Class HP:0031652 biolink:NamedThing Abnormal aortic valve physiology tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 15:20:51+00:00 peter owl:Class CHEBI:35348 biolink:NamedThing 3beta-sterol A sterol in which the hydroxy group at position 3 has beta- configuration. tmpxe7fu0cj_hp_relaxed.owl 3beta-sterols|3beta-hydroxysteroids 0 C19H31OR 275.450 275.23749 C12C(C3C(C(CC3)*)(C)CC1)CCC4C2(CC[C@@H](C4)O)C CHEBI:1725|CHEBI:13609|CHEBI:20248|CHEBI:1726 chebi_ontology owl:Class HP:0001558 biolink:NamedThing Decreased fetal movement An abnormal reduction in quantity or strength of fetal movements. tmpxe7fu0cj_hp_relaxed.owl Decreased foetal movement|Decreased fetal activity|Reduced foetal movements|Reduced fetal movements|Decreased movement in utero|Decreased foetal activity|Reduced fetal movement|Decreased fetal movements|Less than 10 foetal movements in 12 hours|Reduced foetal movement|Foetal hypokinesia|Less than 10 fetal movements in 12 hours|Decreased foetal movements|Fetal hypokinesia SNOMEDCT_US:276369006|UMLS:C0235659 HP:0006840|HP:0007630|HP:0001559|HP:0007631 human_phenotype owl:Class HP:0001557 biolink:NamedThing Prenatal movement abnormality An abnormality of fetal movement. tmpxe7fu0cj_hp_relaxed.owl Abnormal intrauterine movements UMLS:C1849510 Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'. HP:0007629 human_phenotype owl:Class GO:0050771 biolink:NamedThing negative regulation of axonogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of axonogenesis. tmpxe7fu0cj_hp_relaxed.owl inhibition of axonogenesis|down regulation of axonogenesis|downregulation of axonogenesis|down-regulation of axonogenesis biological_process owl:Class UBERON:0007729 biolink:NamedThing interphalangeal joint of manual digit 2 An interphalangeal joint of manus that is part of a manual digit 2. tmpxe7fu0cj_hp_relaxed.owl interphalangeal joint of manual digit II|interphalangeal joint of index finger|interphalangeal joint of second finger|interphalangeal joint of second digit of hand EMAPA:25061|FMA:35397 uberon owl:Class HP:0031919 biolink:NamedThing Juvenile type ovarian granulosa cell tumor Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type. tmpxe7fu0cj_hp_relaxed.owl Juvenile type ovarian granulosa cell tumour|Ovarian juvenile granulosa cell tumour|Ovarian juvenile granulosa cell tumor 2018-07-02 10:52:27+00:00 peter owl:Class HP:0030167 biolink:NamedThing Antimitochondrial antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria. tmpxe7fu0cj_hp_relaxed.owl Serum antimitochrondrial antibodies UMLS:C4021051 owl:Class HP:0032514 biolink:NamedThing Duplicated lacrimal punctum A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face. tmpxe7fu0cj_hp_relaxed.owl Double lacrimal puncta|Lacrimal punctum, duplication 2019-05-23 23:34:54+00:00 peter owl:Class HP:0009650 biolink:NamedThing Short distal phalanx of the thumb Hypoplastic (short) distal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Small terminal thumb phalanx|Short terminal thumb phalanx|Hypoplastic/small distal phalanx of the thumb|Short outermost bone of the thumb|Hypoplastic terminal thumb phalanx|Short thumb terminal phalanx UMLS:C1862313 doelkens 2009-01-29T05:22:06Z HP:0004085|HP:0004087 human_phenotype owl:Class HP:0000863 biolink:NamedThing Central diabetes insipidus A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus. tmpxe7fu0cj_hp_relaxed.owl Neurohypophyseal diabetes insipidus SNOMEDCT_US:45369008|MSH:D020790|UMLS:C0687720 HP:0008210 human_phenotype owl:Class HP:0011751 biolink:NamedThing Abnormality of the posterior pituitary An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the neurohypophysis UMLS:C4023204 peter 2012-04-22T01:20:33Z human_phenotype owl:Class HP:0006560 biolink:NamedThing Biliary hyperplasia Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia. tmpxe7fu0cj_hp_relaxed.owl Bile duct hyperplasia UMLS:C3672440|UMLS:C3686778 human_phenotype owl:Class HP:0009331 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 3rd finger A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. tmpxe7fu0cj_hp_relaxed.owl Delta-shaped epiphysis of the middle phalanx of the 3rd finger|Triangular end part of the middle bone of the middle finger UMLS:C4021490 doelkens 2009-01-12T11:15:44Z human_phenotype owl:Class GO:0021954 biolink:NamedThing central nervous system neuron development The process whose specific outcome is the progression of a neuron whose cell body is located in the central nervous system, from initial commitment of the cell to a neuronal fate, to the fully functional differentiated neuron. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009800 biolink:NamedThing Maternal diabetes Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. tmpxe7fu0cj_hp_relaxed.owl maternal hyperglycemia|Maternal diabetes|gestational diabetes MSH:D016640|SNOMEDCT_US:11687002|UMLS:C0085207|UMLS:C4020778 doelkens 2009-02-12T05:44:58Z owl:Class GO:0035234 biolink:NamedThing ectopic germ cell programmed cell death Programmed cell death of an errant germ line cell that is outside the normal migratory path or ectopic to the gonad. This is an important mechanism of regulating germ cell survival within the embryo. tmpxe7fu0cj_hp_relaxed.owl programmed cell death of ectopic germ cells|programmed cell death, ectopic germ cells biological_process owl:Class GO:0012501 biolink:NamedThing programmed cell death A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. tmpxe7fu0cj_hp_relaxed.owl non-apoptotic programmed cell death|RCD|PCD|caspase-independent apoptosis|regulated cell death|caspase-independent cell death|nonapoptotic programmed cell death Wikipedia:Programmed_cell_death Note that this term should be used to annotate gene products in the organism undergoing the programmed cell death. To annotate genes in another organism whose products modulate programmed cell death in a host organism, consider the term 'modulation by symbiont of host programmed cell death ; GO:0052040'. Also, note that 'programmed cell death ; GO:0012501' should be used to refer to instances of caspase-independent cell death mechanisms, in the absence of further indications on the process taking place. At present, caspase-independent cell death is not yet represented in GO due to the lack of consensus and in-depth research on the topic. 'programmed cell death ; GO:0012501' may also be used to annotate gene products in taxa where apoptosis as defined in GO:0006915 does not occur, such as plants. You may also consider these specific children: GO:0097468 'programmed cell death in response to reactive oxygen species' (with descendants GO:0010421 'hydrogen peroxide-mediated programmed cell death' and GO:0010343 'singlet oxygen-mediated programmed cell death'), and GO:0009626 'plant-type hypersensitive response' and its children. GO:0016244 biological_process owl:Class CL:0002153 biolink:NamedThing corneocyte The dead keratin-filled squamous cell of the stratum corneum. This cell type lacks a nucleus. tmpxe7fu0cj_hp_relaxed.owl FMA:68650|BTO:0001943 tmeehan 2010-08-24T10:53:03Z cell owl:Class CL:0000311 biolink:NamedThing keratin accumulating cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0410273 biolink:NamedThing Retropharyngeal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx. tmpxe7fu0cj_hp_relaxed.owl 2018-10-30 02:17:49+00:00 NCIT:C3085 owl:Class UBERON:0005456 biolink:NamedThing jugular foramen The jugular foramen is a large aperture in the base of the skull. It is located behind the carotid canal and is formed in front by the petrous portion of the temporal, and behind by the occipital; it is generally larger on the right than on the left side. tmpxe7fu0cj_hp_relaxed.owl Posterior lacerate foramen|foramen jugulare SCTID:361735006|FMA:56432|Wikipedia:Jugular_foramen|EMAPA:18713|NCIT:C12496|UMLS:C0222712|EHDAA:10631|AAO:0000249|VHOG:0001113|EHDAA2:0000893 http://upload.wikimedia.org/wikipedia/commons/f/fa/Foramenjugulare.PNG uberon owl:Class Large foramen that houses the glossopharyngeal and vagus nerves and is located inside the condyloid fossa.[AAO]|One of a pair of openings between the lateral part of the occipital bone and the petrous part of the temporal bones in the skull. The foramen contains the inferior petrosal sinus; the transverse sinus; some meningeal branches of the occipital and ascending pharyngeal arteries; and the glossopharyngeal, vagus, and accessory nerves. [Free_Online_Medical_Dictionary] relationship loss: subclass braincase and otic capsule opening (AAO:0000051)[AAO] UBERON:0018321 biolink:NamedThing foramen for glossopharyngeal nerve Foramen that allows the passge of the glossopharyngeal nerve (cranial nerve IX). tmpxe7fu0cj_hp_relaxed.owl UBERONTEMP:9ca0bda7-9111-4f59-bc72-5d47bc3d7d61 uberon owl:Class HP:0100074 biolink:NamedThing Small epiphyses of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Small end part of the 4th toe bone UMLS:C4022347 doelkens 2010-06-24T09:59:30Z human_phenotype owl:Class GO:0031111 biolink:NamedThing negative regulation of microtubule polymerization or depolymerization Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule polymerization or depolymerization. tmpxe7fu0cj_hp_relaxed.owl down-regulation of microtubule polymerization or depolymerization|downregulation of microtubule polymerization or depolymerization|down regulation of microtubule polymerization or depolymerization|inhibition of microtubule polymerization or depolymerization biological_process owl:Class GO:0014014 biolink:NamedThing negative regulation of gliogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of gliogenesis, the formation of mature glia. tmpxe7fu0cj_hp_relaxed.owl downregulation of gliogenesis|down-regulation of gliogenesis|inhibition of gliogenesis|down regulation of gliogenesis biological_process owl:Class HP:0010976 biolink:NamedThing B lymphocytopenia An abnormal decrease from the normal count of B cells. tmpxe7fu0cj_hp_relaxed.owl Low B cell count|Decreased B cell count|Reduction in B cell number|B cell deficiency|B cell lymphopenia UMLS:C1855067 Plasma B cells differentiate from B cells and secrete large amounts of antibodies. peter 2011-02-06T09:44:11Z HP:0002956 owl:Class CL:2000005 biolink:NamedThing brain macroglial cell Any macroglial cell that is part of a brain. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-03-28T21:35:27Z cell owl:Class CL:0000126 biolink:NamedThing macroglial cell A neuroglial cell of ectodermal origin, i.e., the astrocytes and oligodendrocytes considered together. tmpxe7fu0cj_hp_relaxed.owl macrogliocyte FMA:54538|BTO:0000771|CALOHA:TS-2027 cell owl:Class HP:0004329 biolink:NamedThing Abnormal posterior eye segment morphology tmpxe7fu0cj_hp_relaxed.owl Abnormality of the posterior segment of the eyeball|Abnormality of the posterior segment of the globe|Abnormality of the posterior segment of the eye|Abnormal morphology of the posterior segment of the globe UMLS:C4025354 The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve. peter 2008-02-27T04:25:00Z human_phenotype owl:Class UBERON:0007806 biolink:NamedThing connecting stalk A bridge of mesoderm connecting the caudal end of the young embryo with the trophoblastic tissues; the precursor of the umbilical cord. tmpxe7fu0cj_hp_relaxed.owl NCIT:C34132|UMLS:C1516792|BTO:0004705 TODO - this is currently defined as a bridge of mesoderm, but in EHDAA2 is extraembryonic structure split into mesoderm and blood vessels uberon owl:Class CL:0000667 biolink:NamedThing collagen secreting cell An extracellular matrix secreting cell that secretes collagen. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class GO:0042703 biolink:NamedThing menstruation The cyclic, physiologic discharge through the vagina of blood and endometrial tissues from the nonpregnant uterus. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Menstruation Note that this term should not be used for direct annotation. If you are trying to make an annotation to x phase, it is likely that the correct annotation is 'regulation of x/y phase transition' or to a process which occurs during the reported phase. To capture the phase when a specific location or process is observed, the phase term can be used in an annotation extension (PMID:24885854) applied to a cellular component term (with the relation exists_during) or a biological process term (with the relation happens_during). biological_process owl:Class UBERON:0001010 biolink:NamedThing diaphysis of ulna The body of the ulna at its upper part is prismatic in form, and curved so as to be convex behind and lateralward; its central part is straight; its lower part is rounded, smooth, and bent a little lateralward. It tapers gradually from above downward, and has three borders and three surfaces. tmpxe7fu0cj_hp_relaxed.owl shaft of ulna|supinator crest|corpus ulnae|body of ulna|ulnar diaphysis NCIT:C120676|FMA:33760 uberon owl:Class UBERON:0004769 biolink:NamedThing diaphysis Subdivision of long bone which forms the part of the bone between the two epiphyses, excluding the metaphyses[FMA,modified]. tmpxe7fu0cj_hp_relaxed.owl shaft of long bone|body of long bone|long bone diaphysis MESH:D018483|EMAPA:35504|GAID:189|FMA:24013 http://upload.wikimedia.org/wikipedia/commons/9/94/Illu_long_bone.jpg uberon owl:Class Subdivision of long bone which forms the part of the bone between the two epiphyses; together with other the subdivisions of long bone, it constitutes the long bone. Examples: diaphysis of humerus, diaphysis of femur[FMA].|The main or mid section (shaft) of a long bone. It is made up of cortical bone and usually contains bone marrow and adipose tissue (fat)[WP][FMA:24013, Wikipedia:Diaphysis]. HP:0032972 biolink:NamedThing Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0012204 biolink:NamedThing Recurrent vulvovaginal candidiasis Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023003 peter 2013-03-12T12:09:45Z human_phenotype owl:Class HP:0031261 biolink:NamedThing Bladder polyp An abnormal growth that projects from the mucous membrane of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 16:13:31+00:00 peter owl:Class GO:0045834 biolink:NamedThing positive regulation of lipid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids. tmpxe7fu0cj_hp_relaxed.owl activation of lipid metabolic process|positive regulation of lipid metabolism|up-regulation of lipid metabolic process|up regulation of lipid metabolic process|upregulation of lipid metabolic process|stimulation of lipid metabolic process biological_process owl:Class UBERON:0001531 biolink:NamedThing right common carotid artery plus branches The rightmost of the two common carotid arteries, originating from in the neck from the brachiocephalic trunk. tmpxe7fu0cj_hp_relaxed.owl trunk of right common carotid tree|right common carotid artery SCTID:362042003|FMA:3941|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rvg7rcJwpEbGdrcN5Y29ycA|UMLS:C0226086|EMAPA:35749|MA:0001928|Wikipedia:Right_common_carotid_artery|NCIT:C33473|OpenCyc:Mx4rtW9-AqgEEdudWQACs5b6Bw http://upload.wikimedia.org/wikipedia/commons/e/e6/Gray506.svg uberon owl:Class placement of the MA class here is not strictly correct, as the MA class does not include the branches UBERON:0001530 biolink:NamedThing common carotid artery plus branches A bilaterally paired branched artery that originates from the aortic arches and divides into and includes as parts the internal and external carotid arteries[cjm]. tmpxe7fu0cj_hp_relaxed.owl carotid artery system|carotid artery|trunk of common carotid tree|common carotid artery|a. carotis communis Wikipedia:Common_carotid_artery|EMAPA:17855|NCIT:C32352|EHDAA2:0000217|MA:0001926|UMLS:C0162859|CALOHA:TS-0116|GAID:479|FMA:3939|EHDAA:7331|VHOG:0000272|SCTID:362041005|MESH:D017536 This class represents the adult and developing structures' http://upload.wikimedia.org/wikipedia/commons/e/e6/Gray506.svg we follow the FMA and treat the artery as a tree-structure - here we include the internal and external as parts. For the part that excludes the branches, see 'trunk of common carotid artery' uberon owl:Class in birds and reptiles, develops from arch III and parts of ventral and dorsal aortae HP:0100830 biolink:NamedThing Round ear tmpxe7fu0cj_hp_relaxed.owl Round ear UMLS:C4021959 doelkens 2011-06-09T05:41:29Z human_phenotype owl:Class UBERON:0010755 biolink:NamedThing secondary follicle corona The part of the secondary follicle that surrounds the germinal center. tmpxe7fu0cj_hp_relaxed.owl B cell corona|inactive zone of follicle|peripheral zone of follicle|dark zone of follicle|mantle zone NCIT:C33053|UMLS:C1512987 consider making terminology consistent amongst subclasses - see https://github.com/obophenotype/uberon/issues/7 uberon owl:Class HP:0010073 biolink:NamedThing Synostosis involving the 1st metatarsal tmpxe7fu0cj_hp_relaxed.owl Fusion involving the 1st long bone of foot UMLS:C4024071 doelkens 2009-05-29T12:13:57Z human_phenotype owl:Class HP:0032989 biolink:NamedThing Delayed ability to roll over Delayed ahcievement of the ability to roll front to back and back to front. tmpxe7fu0cj_hp_relaxed.owl Most infants can roll from the prone to supine position (front to back) at the age of 4 months. Most infants can roll from back to front at the age of 5 or 6 months. peter owl:Class HP:0030046 biolink:NamedThing Hypoglycosylation of alpha-dystroglycan A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4015098 Alpha-dystroglycan is a component of the Dystrophin Associated Protein complex (DAP) which binds to various ligands in the extracellular matrix of muscle and other tissues, including laminin-alpha2, perlecan, neurexin and agrin. Disruption of the interaction between alpha-dystroglycan and its ligands has severe consequences for muscle and brain function and structure. The pathological hallmark is reduced immunolabeling of skeletal muscle with antibodies recognizing glycosylated epitopes on alpha-dystroglycan. owl:Class HP:0030112 biolink:NamedThing Abnormal muscle fiber alpha dystroglycan A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre alpha dystroglycan UMLS:C4022633 owl:Class HP:0004421 biolink:NamedThing Elevated systolic blood pressure Abnormal increase in systolic blood pressure. tmpxe7fu0cj_hp_relaxed.owl Elevated systolic BP UMLS:C1840374 Normal systolic blood pressure is less than 120 mmHg in adults. peter 2008-03-18T09:33:00Z HP:0004956 human_phenotype owl:Class HP:0032263 biolink:NamedThing Increased blood pressure Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. tmpxe7fu0cj_hp_relaxed.owl Increased BP 2019-01-27 20:07:59+00:00 peter owl:Class GO:1905690 biolink:NamedThing nucleus disassembly The disaggregation of a nucleus into its constituent components. tmpxe7fu0cj_hp_relaxed.owl cell nucleus disassembly pr 2016-11-14T13:38:57Z biological_process owl:Class HP:0025634 biolink:NamedThing Abnormal ureter physiology A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. tmpxe7fu0cj_hp_relaxed.owl 2019-04-26 17:43:08+00:00 HPO:probinson owl:Class UBERON:0003315 biolink:NamedThing mesenchyme of ovary Mesenchyme that is part of a developing ovary [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mesenchyme of female reproductive system gonada|mesenchyme of female reproductive system gonad|mesenchyme of gonad of female reproductive system|female reproductive system gonada mesenchyme|ovary mesenchyme|gonada of female reproductive system mesenchyme|mesenchyme of gonada of female reproductive system|gonad of female reproductive system mesenchyme|female reproductive system gonad mesenchyme VHOG:0001441|EHDAA:8128|EHDAA2:0001362 uberon owl:Class HP:0007097 biolink:NamedThing Cranial nerve motor loss tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024940 human_phenotype owl:Class HP:0020041 biolink:NamedThing Double elevator palsy A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia. tmpxe7fu0cj_hp_relaxed.owl 2017-12-20 17:09:14+00:00 robinp owl:Class HP:0011132 biolink:NamedThing Chronic furunculosis A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023521 Note that a confluence of several furuncles results in a carbuncle. peter 2011-06-19T10:25:47Z human_phenotype owl:Class PATO:0002282 biolink:NamedThing increased mobility A mobility which is relative high. tmpxe7fu0cj_hp_relaxed.owl 2011-03-09T09:16:03Z quality owl:Class PATO:0000299 biolink:NamedThing mobile A mobility quality of inhering in a bearer by virtue of the bearer's disposition to move freely. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:2000846 biolink:NamedThing regulation of corticosteroid hormone secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0033720 biolink:NamedThing EEG with occipital epileptiform discharges Focal epileptiform EEG discharges recorded in the occipital region. tmpxe7fu0cj_hp_relaxed.owl 2021-04-07 13:02:17+00:00 peter owl:Class HP:0030041 biolink:NamedThing Schmorl's node A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra. tmpxe7fu0cj_hp_relaxed.owl Schmorl's nodes UMLS:C0410632|SNOMEDCT_US:45181002 Schmorl's nodes (SN) are common findings on imaging, and although most SNs are asymptomatic, some have been shown to become painful lesions. owl:Class GO:0061189 biolink:NamedThing positive regulation of sclerotome development Any process that increases the rate, frequency, or extent of the progression of the sclerotome over time, from its initial formation to the mature structure. The sclerotome is the portion of the somite that will give rise to a vertebra. tmpxe7fu0cj_hp_relaxed.owl dph 2010-07-14T09:17:23Z biological_process owl:Class HP:0033254 biolink:NamedThing Anorectal stricture Narrowing of the anorectum associated with inflammation or scar tissue. tmpxe7fu0cj_hp_relaxed.owl Stricture of the anorectum 2020-11-27 19:30:05+00:00 peter owl:Class PR:000009771 biolink:NamedThing galectin-3 A protein that is a translation product of the human LGALS3 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl 35 kDa lectin|laminin-binding protein|lectin L-29|GALBP|LGALS3|carbohydrate-binding protein 35|galactoside-binding protein|MAC2|L-31|galactose-specific lectin 3|IgE-binding protein|CBP 35|L-34 galactoside-binding lectin|Mac-2 antigen|gal-3 Category=gene. protein owl:Class HP:0031922 biolink:NamedThing Renal artery duplication The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body. tmpxe7fu0cj_hp_relaxed.owl Double renal artery|Accessory renal artery 2018-07-04 12:09:29+00:00 Double renal arteries with aortic origin is a benign condition representing the persistence of the embryonic vessels, the lateral branches of the mesonephros, within the renal ascent. The embryonic urogenital ridge from which the kidneys develop is supplied by several paired arteries: the rete arteriosum urogenitale. The later developing metanephric kidneys retain only a single pair of mesonephric arteries, however a variable number may persist. peter owl:Class HP:0006463 biolink:NamedThing Rickets of the lower limbs tmpxe7fu0cj_hp_relaxed.owl UMLS:C1833323 human_phenotype owl:Class HP:0002748 biolink:NamedThing Rickets Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. tmpxe7fu0cj_hp_relaxed.owl Weak and soft bones UMLS:C0035579|MSH:D012279|SNOMEDCT_US:41345002 human_phenotype owl:Class HP:0032114 biolink:NamedThing Saccadic intrusion An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade. tmpxe7fu0cj_hp_relaxed.owl 2018-11-17 14:42:13+00:00 peter owl:Class HP:0200017 biolink:NamedThing Cerebral white matter agenesis Congenital defect with failure of the development of the cerebral white matter. tmpxe7fu0cj_hp_relaxed.owl Agenesis of the cerebral white matter|White matter agenesis UMLS:C1859969 sebastiankohler 2010-06-16T12:37:37Z human_phenotype owl:Class HP:0012429 biolink:NamedThing Aplasia/Hypoplasia of the cerebral white matter Absence or underdevelopment of the cerebral white matter. tmpxe7fu0cj_hp_relaxed.owl Absent/small cerebral white matter|Absent/underdeveloped cerebral white matter UMLS:C4021844 peter 2013-11-13T07:39:37Z human_phenotype owl:Class GO:0048632 biolink:NamedThing negative regulation of skeletal muscle tissue growth Any process that stops, prevents, or reduces the frequency, rate or extent of skeletal muscle growth. tmpxe7fu0cj_hp_relaxed.owl down-regulation of skeletal muscle growth|inhibition of skeletal muscle growth|downregulation of skeletal muscle growth|down regulation of skeletal muscle growth biological_process owl:Class GO:0048640 biolink:NamedThing negative regulation of developmental growth Any process that stops, prevents, or reduces the frequency, rate or extent of developmental growth. tmpxe7fu0cj_hp_relaxed.owl down regulation of developmental growth|inhibition of developmental growth|down-regulation of developmental growth|downregulation of developmental growth biological_process owl:Class HP:0004758 biolink:NamedThing Effort-induced polymorphic ventricular tachycardia Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration. tmpxe7fu0cj_hp_relaxed.owl Catecholaminergic polymorphic ventricular tachycardia|Exercise-induced polymorphic ventricular tachycardia UMLS:C4025298 human_phenotype owl:Class UBERON:0005709 biolink:NamedThing upper jaw incisor epithelium A dental epithelium that is part of a upper jaw incisor. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0002122|EMAPA:17940 uberon owl:Class UBERON:0011857 biolink:NamedThing acinus of lacrimal gland An acinus that is part of a lacrimal gland. tmpxe7fu0cj_hp_relaxed.owl lacrimal gland acinus FMA:85250 uberon owl:Class UBERON:0010583 biolink:NamedThing pedal digit 4 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a pedal digit 4 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl hind limb digit 4 phalanx pre-cartilage condensation|pedal digit IV phalanx pre-cartilage condensation|foot digit 4 phalanx pre-cartilage condensation EMAPA:17732|EHDAA2:0002056 uberon owl:Class HP:0030630 biolink:NamedThing Irregular central macular autofluorescence tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073100 owl:Class HP:0030602 biolink:NamedThing Abnormal fundus autofluorescence imaging Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073073 Fundus autofluorescence imagine is used for evaluating age related macular degeneration, macular dystrophies, retinitis pigmentosa, white dot syndromes, retinal drug toxicities, and various other retinal disorders. owl:Class UBERON:0004471 biolink:NamedThing musculature of pectoral girdle A subdivision of the musculature of the body in the pectoral girdle region. Includes pectoral and shoulder muscles. tmpxe7fu0cj_hp_relaxed.owl pectoral girdle muscles|set of muscles of pectoral girdle|muscle group of pectoral girdle|pectoral girdle musculature AAO:0000423|FMA:33519|EMAPA:37857 uberon owl:Class GO:0030431 biolink:NamedThing sleep Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain. tmpxe7fu0cj_hp_relaxed.owl lethargus|dormancy|diapause Wikipedia:Sleep biological_process owl:Class HP:0012793 biolink:NamedThing Kinked brainstem A kinked appearance of the brainstem, i.e., an exaggerated flexure. tmpxe7fu0cj_hp_relaxed.owl Kinked brain stem UMLS:C4021068 Kinked brainstem is an indicator of severe neurodysgenesis arising early in gestation. This sign can be appreciated in prenatal magnetic resonance imaging. peter 2014-04-25T02:51:49Z human_phenotype owl:Class HP:0002251 biolink:NamedThing Aganglionic megacolon An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. tmpxe7fu0cj_hp_relaxed.owl Enlarged colon lacking nerve cells|Hirschsprung disease|Congenital megacolon|Megacolon|Hirschsprung megacolon SNOMEDCT_US:367495003|UMLS:C0019569|MEDDRA:10027110|SNOMEDCT_US:204739008|MSH:D006627|SNOMEDCT_US:33995003|UMLS:C0025160|MSH:D008531 Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. HP:0004391|HP:0002029|HP:0002606|HP:0002030 human_phenotype owl:Class HP:0012250 biolink:NamedThing ST segment depression An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:429622005|UMLS:C0520887|SNOMEDCT_US:26141007 peter 2013-04-07T08:59:59Z human_phenotype owl:Class GO:0033031 biolink:NamedThing positive regulation of neutrophil apoptotic process Any process that activates or increases the frequency, rate, or extent of neutrophil apoptotic process. tmpxe7fu0cj_hp_relaxed.owl activation of neutrophil apoptosis|up regulation of neutrophil apoptosis|positive regulation of neutrophil apoptosis|upregulation of neutrophil apoptosis|stimulation of neutrophil apoptosis|up-regulation of neutrophil apoptosis biological_process owl:Class CHEBI:66873 biolink:NamedThing C4-dicarboxylic acid Any dicarboxylic acid that contains four carbon atoms. tmpxe7fu0cj_hp_relaxed.owl C4-dicarboxylic acids chebi_ontology owl:Class HP:0010463 biolink:NamedThing Aplasia of the ovary Aplasia, that is failure to develop, of the ovary. tmpxe7fu0cj_hp_relaxed.owl Aplasia of the ovaries|Absent ovary|Bilateral absent ovaries UMLS:C0266368|SNOMEDCT_US:12017008 peter 2009-09-15T08:40:06Z human_phenotype owl:Class HP:0009987 biolink:NamedThing Partial duplication of the phalanges of the 5th finger A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the pinky finger bone|Partial duplication of the little finger bone|Partial duplication of the pinkie finger bone UMLS:C4024127 doelkens 2009-05-26T02:24:20Z human_phenotype owl:Class GO:0045225 biolink:NamedThing negative regulation of CD4 production Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of CD4. tmpxe7fu0cj_hp_relaxed.owl negative regulation of CD4 biosynthetic process|downregulation of CD4 biosynthetic process|down-regulation of CD4 biosynthetic process|down regulation of CD4 biosynthetic process|negative regulation of CD4 synthesis|inhibition of CD4 biosynthetic process|negative regulation of CD4 anabolism|negative regulation of CD4 formation|negative regulation of CD4 biosynthesis biological_process owl:Class GO:0010561 biolink:NamedThing negative regulation of glycoprotein biosynthetic process Any process that decreases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class MAXO:0010314 biolink:NamedThing lung CT The use of computed tomography to produce images of structures of the lung. tmpxe7fu0cj_hp_relaxed.owl CAT scan of lung|lung computerized axial tomography|lung computed tomography|lung CT examination|lung CAT scan|CT of lung 2020-03-31T20:39:14Z http://orcid.org/0000-0001-7941-2969 owl:Class GO:0097152 biolink:NamedThing mesenchymal cell apoptotic process Any apoptotic process in a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. tmpxe7fu0cj_hp_relaxed.owl mesenchymal cell apoptosis pr 2011-09-06T02:31:59Z biological_process owl:Class HP:0001258 biolink:NamedThing Spastic paraplegia Spasticity and weakness of the leg and hip muscles. tmpxe7fu0cj_hp_relaxed.owl Spastic paraplegia, lower limb SNOMEDCT_US:192967009|UMLS:C0037772|MSH:D010264 This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies. HP:0007062|HP:0007124|HP:0007216 human_phenotype owl:Class HP:0010550 biolink:NamedThing Paraplegia Severe or complete weakness of both lower extremities with sparing of the upper extremities. tmpxe7fu0cj_hp_relaxed.owl Leg paralysis SNOMEDCT_US:60389000|MSH:D010264|UMLS:C0030486 peter 2009-10-01T08:32:57Z human_phenotype owl:Class HP:0003774 biolink:NamedThing Stage 5 chronic kidney disease A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. tmpxe7fu0cj_hp_relaxed.owl End-stage renal disease|Renal failure, endstage|End stage renal failure|End stage renal disease|Chronic renal failure|Stage 5 chronic kidney disease|End-stage renal failure UMLS:C2316810|SNOMEDCT_US:433146000 Equivalent with the National Kidney Foundation's definition of stage 5 chronic kidney disease. HP:0004725|HP:0005570|HP:0000101|HP:0004720|HP:0004738|HP:0004733 human_phenotype owl:Class HP:0012622 biolink:NamedThing Chronic kidney disease Functional anomaly of the kidney persisting for at least three months. tmpxe7fu0cj_hp_relaxed.owl Loss of renal function|Chronic kidney disease|Renal failure, progressive|Renal insufficiency, progressive|Progressive renal failure|Progressive renal insufficiency UMLS:C0748318|MSH:D051436|SNOMEDCT_US:709044004|UMLS:C1561643 peter 2014-01-17T01:14:52Z HP:0008671|HP:0000106|HP:0001918 human_phenotype owl:Class HP:0001254 biolink:NamedThing Lethargy A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. tmpxe7fu0cj_hp_relaxed.owl Lethargy SNOMEDCT_US:214264003|MSH:D053609|UMLS:C0023380 human_phenotype owl:Class UBERON:0006133 biolink:NamedThing funiculus of neuraxis The cerebrospinal nerves consist of numerous nerve fibers collected together and enclosed in membranous sheaths. A small bundle of fibers, enclosed in a tubular sheath, is called a funiculus; if the nerve is of small size, it may consist only of a single funiculus; but if large, the funiculi are collected together into larger bundles or fasciculi, which are bound together in a common membranous investment. Examples include: Anterior funiculus of the spinal cord Lateral funiculus of the spinal cord Posterior funiculus of the spinal cord Funiculus solitarius of the medulla Funiculus separans. tmpxe7fu0cj_hp_relaxed.owl FMA:76738 uberon owl:Class PR:000001892 biolink:NamedThing CD33 molecule A protein that is a translation product of the human CD33 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl siglec-3|gp67|myeloid cell surface antigen CD33|SIGLEC3|CD33|sialic acid-binding Ig-like lectin 3 IUPHARobj:2601 Category=gene. Requested by=CL. protein owl:Class HP:0033030 biolink:NamedThing Anti-glomerular basement membrane-antibody positivity The presence of autoantibodies in the serum that react to the glomerular basement membrane. tmpxe7fu0cj_hp_relaxed.owl Anti-GBM-antibody positivity Anti-GBM-antibodies are found in Goodpasture syndrome. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). peter owl:Class HP:0009538 biolink:NamedThing Contracture of the distal interphalangeal joint of the 2nd finger Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024302 doelkens 2009-01-21T10:11:49Z human_phenotype owl:Class HP:0010459 biolink:NamedThing True hermaphroditism The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism. tmpxe7fu0cj_hp_relaxed.owl Testicular and ovarian tissue present UMLS:C0266361|MSH:D050090|SNOMEDCT_US:18978002 peter 2009-09-15T08:28:15Z HP:0003242 human_phenotype owl:Class HP:0000062 biolink:NamedThing Ambiguous genitalia A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. tmpxe7fu0cj_hp_relaxed.owl Intersex genitalia|Ambiguous external genitalia|Ambiguous external genitalia at birth UMLS:C0266362|MSH:D012734|SNOMEDCT_US:21321009 Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome. HP:0008685|HP:0008693 human_phenotype owl:Class GO:1905148 biolink:NamedThing negative regulation of smooth muscle hypertrophy Any process that stops, prevents or reduces the frequency, rate or extent of smooth muscle hypertrophy. tmpxe7fu0cj_hp_relaxed.owl downregulation of smooth muscle hypertrophy|down-regulation of smooth muscle hypertrophy|inhibition of smooth muscle hypertrophy|down regulation of smooth muscle hypertrophy bc 2016-04-15T12:47:16Z biological_process owl:Class GO:0061076 biolink:NamedThing negative regulation of neural retina development Any process that decreases the rate, frequency, or extent of neural retina development, the progression of the neural retina over time from its initial formation to the mature structure. The neural retina is the part of the retina that contains neurons and photoreceptor cells. tmpxe7fu0cj_hp_relaxed.owl dph 2010-03-16T12:46:11Z biological_process owl:Class GO:1902867 biolink:NamedThing negative regulation of retina development in camera-type eye Any process that stops, prevents or reduces the frequency, rate or extent of retina development in camera-type eye. tmpxe7fu0cj_hp_relaxed.owl down regulation of retina development in camera-type eye|negative regulation of retina development in camera-style eye|down regulation of retinal development|down-regulation of retina development in camera-type eye|down-regulation of retina development in camera-style eye|downregulation of retina development in camera-style eye|negative regulation of retinal development|down regulation of retina development in camera-style eye|downregulation of retinal development|down-regulation of retinal development|downregulation of retina development in camera-type eye|inhibition of retina development in camera-type eye|inhibition of retina development in camera-style eye|inhibition of retinal development mr 2014-04-03T15:24:23Z biological_process owl:Class HP:0003247 biolink:NamedThing Overgrowth of external genitalia tmpxe7fu0cj_hp_relaxed.owl Overgrowth of external genitalia UMLS:C1851722 human_phenotype owl:Class UBERON:7500062 biolink:NamedThing tibial tuberosity The tibial tuberosity is on the anterior side of a tibia and is where a patella ligament attaches. tmpxe7fu0cj_hp_relaxed.owl fossa digitalis 2021-05-28 00:06:11+00:00 uberon owl:Class UBERON:7500078 biolink:NamedThing styloid process of radius A condyle on the distal end and lateral side of a radius. tmpxe7fu0cj_hp_relaxed.owl radial condyle|radial styloid process 2021-06-03 00:20:10+00:00 uberon owl:Class GO:0099140 biolink:NamedThing presynaptic actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins in the presynaptic actin cytoskeleton. tmpxe7fu0cj_hp_relaxed.owl dos 2017-06-09T18:34:19Z biological_process owl:Class UBERON:0003409 biolink:NamedThing gland of tongue Any of the mucous, serous, or mixed glands that empty their secretions onto the surface of the tongue. tmpxe7fu0cj_hp_relaxed.owl lingual gland|tongue gland EMAPA:25097 uberon owl:Class UBERON:0010047 biolink:NamedThing oral gland Gland of the epithelium lining the oral cavity. The most common are the salivary glands. tmpxe7fu0cj_hp_relaxed.owl gland of oral opening|oral region gland|gland of oral region|mouth gland|oral cavity gland|buccal gland VHOG:0000652|EHDAA:2181|EMAPA:16723|EMAPA:16572|EHDAA2:0001327 UBERON:0003293 uberon owl:Class Note that Kardong classifies lacrimal glands here. EHDAA2 includes pituitary primordium, as this develops from oral mucosa UBERON:0015105 biolink:NamedThing distal tarsal bone 2 endochondral element tmpxe7fu0cj_hp_relaxed.owl distal tarsal 2 uberon owl:Class GO:2000262 biolink:NamedThing positive regulation of blood coagulation, common pathway Any process that activates or increases the frequency, rate or extent of blood coagulation, common pathway. tmpxe7fu0cj_hp_relaxed.owl mah 2010-11-23T11:42:48Z biological_process owl:Class HP:0011882 biolink:NamedThing Decreased platelet P2Y12 receptor Decreased cell membrane concentration of P2Y12 receptor. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023147 The P2Y12 receptor is activated by ADP and plays a central role in platelet activation. peter 2012-06-02T09:18:58Z human_phenotype owl:Class UBERON:0010754 biolink:NamedThing germinal center A collection of activated B cells at the center of a secondary follicle, formed after B cells become activated and migrate to the center. tmpxe7fu0cj_hp_relaxed.owl light zone of follicle|central zone of follice|lymhpoid nodule|nodule|reaction center of follicle MESH:D018858|EV:0100051|NCIT:C13337|UMLS:C0282491|BTO:0003671 A germinal center is a specialized microenvironment formed when activated B cells enter lymphoid follicles. Germinal centers are the foci for B cell proliferation and somatic hypermutation.[GO] Germinal:center.svg uberon owl:Class HP:0011516 biolink:NamedThing Achromatopsia A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult. tmpxe7fu0cj_hp_relaxed.owl Rod monochromatism|Rod monochromacy UMLS:C0302129|SNOMEDCT_US:102450007|MSH:C536021 The end stage of cone degeneration is rod monochromacy, also called achromatopsia, in which vision is mediated exclusively by rod photoreceptors. Rod monochromacy can also be manifest from birth and can be due to congenitally absent or dysfunctional cone photoreceptors. There is no rod counterpart to cone degeneration; all rod photoreceptor degenerations have a secondary loss of cones and are categorized as retinitis pigmentosa. peter 2012-04-06T06:40:03Z human_phenotype owl:Class GO:0048070 biolink:NamedThing regulation of developmental pigmentation Any process that modulates the frequency, rate or extent of the developmental process that results in the deposition of coloring matter in an organism. tmpxe7fu0cj_hp_relaxed.owl regulation of pigmentation during development biological_process owl:Class GO:0050680 biolink:NamedThing negative regulation of epithelial cell proliferation Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation. tmpxe7fu0cj_hp_relaxed.owl inhibition of epithelial cell proliferation|down-regulation of epithelial cell proliferation|down regulation of epithelial cell proliferation|downregulation of epithelial cell proliferation biological_process owl:Class GO:0050678 biolink:NamedThing regulation of epithelial cell proliferation Any process that modulates the frequency, rate or extent of epithelial cell proliferation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0007277 biolink:NamedThing presumptive hindbrain The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, 'rhombencephalosynapsis' is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure. tmpxe7fu0cj_hp_relaxed.owl presumptive rhombencephalon|future hindbrain|rhombencephalon|embryonic rhombencephalon Wikipedia:Rhombencephalon|EFO:0003440|FMA:295640|BAMS:HB|CALOHA:TS-2118|EHDAA2:0001630|TAO:0000569|ZFA:0000569 TODO - unify naming conventions uberon owl:Class The embryonic rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. Rhombomeres Rh7-Rh4 form the myelencephalon that will give the medulla oblongata. Rhombomeres Rh3-Rh1 form the metencephalon that will form the pons and the cerebellum[NPX:PDR]. PATO:0001669 biolink:NamedThing increased susceptibility toward A susceptibility toward an external stimulus which is higher than normal/average. tmpxe7fu0cj_hp_relaxed.owl increased susceptibility|high susceptibility toward quality owl:Class UBERON:0003589 biolink:NamedThing hindlimb connective tissue A portion of connective tissue that is part of a hindlimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl connective tissue of lower extremity|hind limb connective tissue|connective tissue of inferior member|connective tissue of hind limb|connective tissue of hindlimb EMAPA:37322|MA:0000661 uberon owl:Class GO:1903058 biolink:NamedThing positive regulation of melanosome organization Any process that activates or increases the frequency, rate or extent of melanosome organization. tmpxe7fu0cj_hp_relaxed.owl activation of melanosome organisation|up-regulation of melanosome organisation|up regulation of melanosome organisation|up-regulation of melanosome organization|positive regulation of melanosome organisation|positive regulation of melanosome organization and biogenesis|up regulation of melanosome organization|activation of melanosome organization and biogenesis|activation of melanosome organization|up regulation of melanosome organization and biogenesis|up-regulation of melanosome organization and biogenesis|upregulation of melanosome organization and biogenesis|upregulation of melanosome organisation|upregulation of melanosome organization Lack of the transcription factor Zeb2 Q9R0G7 leads to spherical melanosomes with irregular borders, in contrast to the rod-shaped melanosomes of ZEB2MCWT hair follicles. rl 2014-05-27T13:28:01Z biological_process owl:Class HP:0032502 biolink:NamedThing Exacerbated by barbiturate medication Applied to a sign or symptom that is worsened by taking barbituates. tmpxe7fu0cj_hp_relaxed.owl Barbiturates produce worsening 2019-05-23 22:55:06+00:00 peter owl:Class GO:0050729 biolink:NamedThing positive regulation of inflammatory response Any process that activates or increases the frequency, rate or extent of the inflammatory response. tmpxe7fu0cj_hp_relaxed.owl up-regulation of inflammatory response|stimulation of inflammatory response|activation of inflammatory response|upregulation of inflammatory response|up regulation of inflammatory response biological_process owl:Class GO:0060609 biolink:NamedThing apoptotic process involved in tube lumen cavitation Any apoptotic process that contributes to the hollowing out of an epithelial rod or cord to form the central hole in a tube. tmpxe7fu0cj_hp_relaxed.owl apoptosis involved in tube lumen cavitation dph 2009-05-15T10:05:39Z biological_process owl:Class CL:0000049 biolink:NamedThing common myeloid progenitor A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. tmpxe7fu0cj_hp_relaxed.owl CFU-S|myeloid stem cell|pluripotent stem cell (bone marrow)|CFU-GEMM|colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte|common myeloid precursor|multipotential myeloid stem cell|CMP BTO:0004730 This cell type is intended to be compatible with any vertebrate common myeloid progenitor. For mammalian CMP known to be CD34-positive, please use the term 'common myeloid progenitor, CD34-positive' (CL_0001059). cell owl:Class GO:0002087 biolink:NamedThing regulation of respiratory gaseous exchange by nervous system process A process carried out by the nervous system that is required for the proper control of respiratory gaseous exchange. This process occurs in the respiratory center of the brain in vertebrates. tmpxe7fu0cj_hp_relaxed.owl regulation of respiratory gaseous exchange by neurological system process|neurological control of breathing biological_process owl:Class HP:0041089 biolink:NamedThing Avulsion fractured tibia A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0041143 biolink:NamedThing Fractured tibia A partial or complete breakage of the tibia. tmpxe7fu0cj_hp_relaxed.owl Tibial fracture|Fracture of the tibia|Broken tibia|bone tibia owl:Class HP:0031633 biolink:NamedThing Isolation of the left subclavian artery The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 01:04:45+00:00 Fyler:2732 peter owl:Class HP:0031363 biolink:NamedThing Palpable purpura A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation). tmpxe7fu0cj_hp_relaxed.owl 2017-08-29 12:31:01+00:00 peter owl:Class HP:0000979 biolink:NamedThing Purpura Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. tmpxe7fu0cj_hp_relaxed.owl Blood spots|Red or purple spots on the skin SNOMEDCT_US:12393003|MSH:D011693|SNOMEDCT_US:387778001|SNOMEDCT_US:423902002|UMLS:C0034150 Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm). human_phenotype owl:Class HP:0008484 biolink:NamedThing Thoracolumbar interpediculate narrowness A reduction of the distance between thoracolumbar vertebral pedicles. tmpxe7fu0cj_hp_relaxed.owl Narrow thoracolumbar interpediculate distance UMLS:C1864364 human_phenotype owl:Class HP:0031584 biolink:NamedThing Tessier number 12 facial cleft There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate. tmpxe7fu0cj_hp_relaxed.owl 2017-10-14 12:52:42+00:00 peter owl:Class CL:1000410 biolink:NamedThing myocyte of atrioventricular node A muscle cell that is part of the atrioventricular node. tmpxe7fu0cj_hp_relaxed.owl AV nodal myocyte|atrioventricular node myocyte|atrioventricular node cell|AV node cell|AV node cardiac muscle cell FMA:67106 cell owl:Class CL:2000022 biolink:NamedThing cardiac septum cell Any native cell that is part of a cardiac septum. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-06-24T23:17:07Z cell owl:Class HP:0020181 biolink:NamedThing Reduced haptoglobin level An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-11 20:36:13+00:00 owl:Class HP:0020179 biolink:NamedThing Abnormal haptoglobin level A deviation from the normal concentration of haptoglobin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Haptoglobin is primarily produced in the liver and is functionally important for binding free hemoglobin fromlysed red cells in vivo, preventing its toxic effects. robinp 2019-07-11 20:28:25+00:00 owl:Class GO:1905147 biolink:NamedThing regulation of smooth muscle hypertrophy Any process that modulates the frequency, rate or extent of smooth muscle hypertrophy. tmpxe7fu0cj_hp_relaxed.owl bc 2016-04-15T12:47:07Z biological_process owl:Class GO:1904747 biolink:NamedThing positive regulation of apoptotic process involved in development Any process that activates or increases the frequency, rate or extent of apoptotic process involved in development. tmpxe7fu0cj_hp_relaxed.owl up-regulation of apoptotic program involved in anatomical structure development|activation of type I programmed cell death involved in anatomical structure development|positive regulation of induction of apoptosis by p53 involved in anatomical structure development|upregulation of programmed cell death by apoptosis involved in development of an anatomical structure|activation of commitment to apoptosis involved in anatomical structure development|upregulation of induction of apoptosis by p53 involved in development of an anatomical structure|upregulation of apoptotic programmed cell death involved in development of an anatomical structure|activation of induction of apoptosis involved in development of an anatomical structure|upregulation of programmed cell death by apoptosis involved in anatomical structure development|activation of induction of apoptosis by p53 involved in anatomical structure development|up-regulation of activation of apoptosis involved in anatomical structure development|activation of induction of apoptosis by p53 involved in development of an anatomical structure|up-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|up-regulation of apoptotic programmed cell death involved in development of an anatomical structure|positive regulation of apoptotic cell death involved in development of an anatomical structure|positive regulation of induction of apoptosis involved in development of an anatomical structure|activation of apoptotic process involved in anatomical structure development|activation of apoptosis activator activity involved in development of an anatomical structure|activation of induction of apoptosis involved in anatomical structure development|up regulation of type I programmed cell death involved in anatomical structure development|up regulation of induction of apoptosis involved in development of an anatomical structure|up-regulation of induction of apoptosis involved in anatomical structure development|upregulation of apoptotic process involved in development|up regulation of apoptotic cell death involved in anatomical structure development|activation of apoptotic cell death involved in anatomical structure development|upregulation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of type I programmed cell death involved in anatomical structure development|up regulation of signaling (initiator) caspase activity involved in anatomical structure development|up-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|up-regulation of apoptosis signaling involved in development of an anatomical structure|up regulation of apoptosis involved in anatomical structure development|upregulation of activation of apoptosis involved in development of an anatomical structure|upregulation of apoptosis involved in development of an anatomical structure|up-regulation of activation of apoptosis involved in development of an anatomical structure|upregulation of type I programmed cell death involved in anatomical structure development|positive regulation of apoptotic program involved in anatomical structure development|upregulation of commitment to apoptosis involved in anatomical structure development|upregulation of commitment to apoptosis involved in development of an anatomical structure|positive regulation of programmed cell death by apoptosis involved in development of an anatomical structure|up regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|upregulation of signaling (initiator) caspase activity involved in anatomical structure development|positive regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|activation of apoptotic program involved in development of an anatomical structure|up regulation of apoptosis involved in development of an anatomical structure|positive regulation of induction of apoptosis involved in anatomical structure development|upregulation of apoptotic cell death involved in development of an anatomical structure|up-regulation of apoptotic process involved in development|positive regulation of commitment to apoptosis involved in anatomical structure development|positive regulation of apoptosis involved in development of an anatomical structure|up regulation of apoptotic cell death involved in development of an anatomical structure|up-regulation of apoptotic programmed cell death involved in anatomical structure development|up regulation of apoptotic process involved in anatomical structure development|up regulation of apoptotic process involved in development of an anatomical structure|up-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|positive regulation of activation of apoptosis involved in anatomical structure development|positive regulation of programmed cell death by apoptosis involved in anatomical structure development|up-regulation of commitment to apoptosis involved in development of an anatomical structure|up regulation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of apoptosis involved in anatomical structure development|activation of apoptosis involved in anatomical structure development|upregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|activation of apoptosis signaling involved in anatomical structure development|positive regulation of apoptosis activator activity involved in development of an anatomical structure|up regulation of apoptotic process involved in development|up regulation of programmed cell death by apoptosis involved in anatomical structure development|positive regulation of apoptotic cell death involved in anatomical structure development|up regulation of apoptotic programmed cell death involved in development of an anatomical structure|upregulation of apoptotic program involved in anatomical structure development|up-regulation of apoptosis involved in anatomical structure development|upregulation of apoptotic program involved in development of an anatomical structure|up regulation of induction of apoptosis involved in anatomical structure development|up regulation of induction of apoptosis by p53 involved in development of an anatomical structure|positive regulation of induction of apoptosis by p53 involved in development of an anatomical structure|upregulation of apoptosis involved in anatomical structure development|positive regulation of activation of apoptosis involved in development of an anatomical structure|up regulation of apoptosis activator activity involved in anatomical structure development|upregulation of apoptosis signaling involved in anatomical structure development|up-regulation of apoptotic cell death involved in anatomical structure development|up-regulation of type I programmed cell death involved in development of an anatomical structure|upregulation of apoptotic process involved in development of an anatomical structure|upregulation of type I programmed cell death involved in development of an anatomical structure|positive regulation of type I programmed cell death involved in development of an anatomical structure|up-regulation of apoptosis activator activity involved in anatomical structure development|upregulation of apoptosis signaling involved in development of an anatomical structure|positive regulation of apoptotic process involved in anatomical structure development|up regulation of apoptosis signaling involved in development of an anatomical structure|upregulation of apoptotic process involved in anatomical structure development|up regulation of apoptosis signaling involved in anatomical structure development|positive regulation of commitment to apoptosis involved in development of an anatomical structure|activation of signaling (initiator) caspase activity involved in anatomical structure development|up regulation of type I programmed cell death involved in development of an anatomical structure|positive regulation of apoptotic process involved in development of an anatomical structure|upregulation of induction of apoptosis involved in development of an anatomical structure|up-regulation of apoptotic process involved in anatomical structure development|up regulation of apoptotic program involved in anatomical structure development|activation of apoptotic process involved in development of an anatomical structure|activation of apoptotic process involved in development|activation of activation of apoptosis involved in anatomical structure development|up-regulation of apoptotic cell death involved in development of an anatomical structure|up-regulation of apoptotic process involved in development of an anatomical structure|activation of apoptotic cell death involved in development of an anatomical structure|up-regulation of commitment to apoptosis involved in anatomical structure development|upregulation of induction of apoptosis by p53 involved in anatomical structure development|activation of apoptosis signaling involved in development of an anatomical structure|positive regulation of apoptosis activator activity involved in anatomical structure development|positive regulation of apoptotic programmed cell death involved in anatomical structure development|activation of commitment to apoptosis involved in development of an anatomical structure|up regulation of programmed cell death by apoptosis involved in development of an anatomical structure|up regulation of apoptosis activator activity involved in development of an anatomical structure|up regulation of activation of apoptosis involved in anatomical structure development|activation of programmed cell death by apoptosis involved in anatomical structure development|activation of apoptotic program involved in anatomical structure development|upregulation of induction of apoptosis involved in anatomical structure development|up regulation of commitment to apoptosis involved in anatomical structure development|up regulation of apoptotic program involved in development of an anatomical structure|upregulation of activation of apoptosis involved in anatomical structure development|upregulation of apoptosis activator activity involved in anatomical structure development|up regulation of induction of apoptosis by p53 involved in anatomical structure development|positive regulation of apoptotic programmed cell death involved in development of an anatomical structure|up-regulation of type I programmed cell death involved in anatomical structure development|positive regulation of apoptosis signaling involved in development of an anatomical structure|positive regulation of apoptotic program involved in development of an anatomical structure|upregulation of apoptotic cell death involved in anatomical structure development|activation of type I programmed cell death involved in development of an anatomical structure|positive regulation of signaling (initiator) caspase activity involved in anatomical structure development|up regulation of activation of apoptosis involved in development of an anatomical structure|up-regulation of apoptotic program involved in development of an anatomical structure|up regulation of commitment to apoptosis involved in development of an anatomical structure|activation of apoptotic programmed cell death involved in anatomical structure development|up-regulation of induction of apoptosis by p53 involved in anatomical structure development|upregulation of apoptosis activator activity involved in development of an anatomical structure|up-regulation of apoptosis activator activity involved in development of an anatomical structure|up-regulation of signaling (initiator) caspase activity involved in anatomical structure development|positive regulation of apoptosis signaling involved in anatomical structure development|activation of apoptosis activator activity involved in anatomical structure development|activation of apoptotic programmed cell death involved in development of an anatomical structure|up-regulation of programmed cell death by apoptosis involved in anatomical structure development|activation of activation of apoptosis involved in development of an anatomical structure|activation of apoptosis involved in development of an anatomical structure|up-regulation of induction of apoptosis involved in development of an anatomical structure|activation of programmed cell death by apoptosis involved in development of an anatomical structure|up-regulation of apoptosis involved in development of an anatomical structure|activation of signaling (initiator) caspase activity involved in development of an anatomical structure|up-regulation of apoptosis signaling involved in anatomical structure development U4PR86 in PMID:22801495 inferred from mutant phenotype es 2015-10-19T14:12:34Z biological_process owl:Class HP:0001029 biolink:NamedThing Poikiloderma Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0392777|SNOMEDCT_US:70114006|MEDDRA:10057041|SNOMEDCT_US:402685001 Poikiloderma does not refer to a specific disease entity, but can be seen owing to a number of different causes. human_phenotype owl:Class HP:0410027 biolink:NamedThing Alveolar bone loss around teeth A decrease in the amount of alveolar bone around the root of a tooth. tmpxe7fu0cj_hp_relaxed.owl Bone loss around teeth 2017-06-20 21:41:41+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0003812 biolink:NamedThing Phenotypic variability A variability of phenotypic features. tmpxe7fu0cj_hp_relaxed.owl Variable phenotype|Highly variable phenotype, even within families|Clinical heterogeneity|Highly variable clinical phenotype|Variable phenotypic severity|Highly variable phenotype and severity|Highly variable phenotype UMLS:C1850667|UMLS:C1839039|UMLS:C1837514|UMLS:C1866210 This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. HP:0003822|HP:0003815|HP:0003821|HP:0003813 human_phenotype owl:Class UBERON:0018673 biolink:NamedThing neck of fibula tmpxe7fu0cj_hp_relaxed.owl fibular neck|fibula neck EMAPA:37891|FMA:35508 uberon owl:Class GO:1904794 biolink:NamedThing negative regulation of euchromatin binding Any process that stops, prevents or reduces the frequency, rate or extent of euchromatin binding. tmpxe7fu0cj_hp_relaxed.owl downregulation of euchromatin binding|inhibition of euchromatin binding|down-regulation of euchromatin binding|down regulation of euchromatin binding nc 2015-11-09T11:43:12Z biological_process owl:Class HP:0033522 biolink:NamedThing Cerebral cavernous malformation A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries. tmpxe7fu0cj_hp_relaxed.owl 2021-01-14 13:02:40+00:00 Cerebral cavernous malformation (CCMs) have been reported to be the second most common vascular malformation of the central nervous system after developmental venous anomalies (DVA). The majority of CCM cases comprises a single lesion with or without associated DVA. These are called sporadic CCMs and are often asymptomatic and nonhereditary. The other type, called hereditary or familial CCM (FCCM), is due to autosomal dominant inherited genetic mutation, associated with multiple lesions. CCM can be found at multiple locations in the central nervous system with supratentorial lesions being more common than the infratentorial lesions. peter owl:Class HP:0001048 biolink:NamedThing Cavernous hemangioma The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma. tmpxe7fu0cj_hp_relaxed.owl Collection of dilated blood vessels that forms mass|Cavernous haemangioma|Cavernous angioma SNOMEDCT_US:33377007|NCIT:C3086|MEDDRA:10055899|SNOMEDCT_US:416824008|SNOMEDCT_US:56975005|UMLS:C0018920|MSH:D006392 human_phenotype owl:Class HP:0002014 biolink:NamedThing Diarrhea Abnormally increased frequency of loose or watery bowel movements. tmpxe7fu0cj_hp_relaxed.owl Diarrhea|Watery stool|Diarrhoea SNOMEDCT_US:267060006|SNOMEDCT_US:62315008|MSH:D003967|UMLS:C0011991 human_phenotype owl:Class HP:0031846 biolink:NamedThing Femur fracture A break or crush injury of the thigh bone (femur). tmpxe7fu0cj_hp_relaxed.owl Femoral fracture 2018-05-05 15:37:43+00:00 MSH:D005264 peter owl:Class HP:0031180 biolink:NamedThing Erythema migrans An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter). tmpxe7fu0cj_hp_relaxed.owl Erythema chronicum migrans 2017-06-18 20:57:08+00:00 Erythema migrans develops at the site of the deposition of Borrelia burgdorferi 7 to 14 days (range, 1-36 days) following the detachment of certain Ixodes ticks. The most important differential diagnosis is a localized and transient inflammatory reaction to the bite of an arthropod that is not associated with infection and resolves spontaneously within a day or two, and is usually less than 5 cm in size. peter owl:Class HP:0200070 biolink:NamedThing Peripheral retinal atrophy tmpxe7fu0cj_hp_relaxed.owl Wasting of the outer part of the retina UMLS:C3553016 sebastiankohler 2013-05-31T01:48:09Z human_phenotype owl:Class HP:0040126 biolink:NamedThing Abnormal vitamin B12 level A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. tmpxe7fu0cj_hp_relaxed.owl Abnormal serum cobalamin level UMLS:C4021032 HPO:skoehler owl:Class GO:0070828 biolink:NamedThing heterochromatin organization Any process that results in the specification, formation or maintenance of the physical structure of eukaryotic heterochromatin, a compact and highly condensed form of chromatin. tmpxe7fu0cj_hp_relaxed.owl heterochromatin organisation mah 2009-07-23T04:12:48Z biological_process owl:Class CHEBI:22587 biolink:NamedThing antiviral agent A substance that destroys or inhibits replication of viruses. tmpxe7fu0cj_hp_relaxed.owl antiviral agents|anti-viral agents|anti-viral agent|antiviral|antivirals chebi_ontology owl:Class CHEBI:33281 biolink:NamedThing antimicrobial agent A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans. tmpxe7fu0cj_hp_relaxed.owl antibiotics|microbicide|Antibiotika|antimicrobial agents|microbicides|antibiotique|Antibiotikum|antimicrobials|antimicrobial|antibiotic PMID:22849268|PMID:22439833|PMID:22849276|PMID:12964249|PMID:22958833|PMID:22117953 CHEBI:22582 chebi_ontology owl:Class HP:0005991 biolink:NamedThing Limited neck flexion Reduced abilty to lower the chin towards the chest by bending the neck. tmpxe7fu0cj_hp_relaxed.owl Limited cervical flexion|Limited neck flexibility UMLS:C1864449 owl:Class HP:0004799 biolink:NamedThing Jejunoileal diverticula tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025290 human_phenotype owl:Class HP:0032912 biolink:NamedThing Focal aware manual automatism seizure A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0008055 biolink:NamedThing Aplasia/Hypoplasia affecting the uvea Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped uvea UMLS:C4024746 peter 2008-04-02T03:24:00Z human_phenotype owl:Class HP:0008056 biolink:NamedThing Aplasia/Hypoplasia affecting the eye tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped eye|Absent/small eye UMLS:C4024745 peter 2008-04-02T03:25:00Z human_phenotype owl:Class CHEBI:22480 biolink:NamedThing amino disaccharide A disaccharide derivative that is a disaccharide having one or more substituted or unsubstituted amino groups in place of hydroxy groups at unspecified positions. tmpxe7fu0cj_hp_relaxed.owl amino-disaccharides chebi_ontology owl:Class UBERON:0014783 biolink:NamedThing cloacal muscle Any muscle organ that is part of a cloaca. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class CHEBI:82663 biolink:NamedThing elemental iron An elemental molecular entity in which all of the atoms have atomic number 26. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0012778 biolink:NamedThing Retinal astrocytic hamartoma A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022725 Classically retinal astrocytic hamartomas appear as a cream-white, well-circumscribed, elevated lesions that may present as multiple or solitary sites. A lesion is commonly seen with a multilobulated, "mulberry" appearance, but can also appear flat and semitranslucent. It is most frequently associated with tuberous sclerosis but may also be found rarely in patients with neurofibromatosis. Although the finding may point toward a systemic association, it can also be found incidentally on retinal examination as an isolated presentation. peter 2014-04-07T05:38:54Z human_phenotype owl:Class HP:0100312 biolink:NamedThing Cerebral germinoma The presence of a germ cell tumor of the cerebrum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022151|NCIT:C3708 doelkens 2010-08-10T03:17:16Z human_phenotype owl:Class HP:0033444 biolink:NamedThing Elevated circulating dodecanoylcarnitine concentration Increased concentration of dodecanoylcarnitine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated plasma dodecanoylcarnitine, C12:0|Elevated circulating O-dodecanoylcarnitine concentration 2021-01-09 18:51:51+00:00 peter owl:Class GO:0034637 biolink:NamedThing cellular carbohydrate biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0033749 biolink:NamedThing Abnormal functional residual capacity A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation. tmpxe7fu0cj_hp_relaxed.owl 2021-04-21 15:47:00+00:00 Functional residual capacity (FRC), is about 3L in a normal adult. FRC is the total amount of air in a person's lungs at the lowest point of their tidal volume (TV; the volume of air a person normally inspires and expires). The FRC is a lung capacity, consisting of the sum of two or more volumes. It also cannot be measured directly using spirometry and has to be calculated. This because FRC is a combination of the expiratory reserve volume (ERV) and the residual volume (RV). The residual volume is the amount of air remaining the lung after expelling as much air from the lungs as possible. The residual volume can never be exhaled; thus, it cannot be measured using spirometry and is the air causing the alveoli to remain open. The ERV is the reserve amount of air that can be exhaled forcefully, after passive exhalation. Therefore, the FRC can be represented as the equation: FRC=RV+ERV. peter owl:Class HP:0012532 biolink:NamedThing Chronic pain Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. tmpxe7fu0cj_hp_relaxed.owl Chronic pain|Long-lasting pain SNOMEDCT_US:82423001|UMLS:C0150055|MSH:D059350 Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing. peter 2013-12-15T09:46:55Z human_phenotype owl:Class HP:0030612 biolink:NamedThing Abnormal retinal morphology on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073082 owl:Class GO:1904411 biolink:NamedThing positive regulation of secretory granule organization Any process that activates or increases the frequency, rate or extent of secretory granule organization. tmpxe7fu0cj_hp_relaxed.owl up regulation of secretory granule organization and biogenesis|up-regulation of secretory granule organization and biogenesis|activation of secretory granule organization and biogenesis|up-regulation of secretory granule organization|up-regulation of secretory granule organisation|upregulation of secretory granule organization and biogenesis|upregulation of secretory granule organisation|upregulation of secretory granule organization|positive regulation of secretory granule organisation|activation of secretory granule organization|positive regulation of secretory granule organization and biogenesis|up regulation of secretory granule organization|up regulation of secretory granule organisation|activation of secretory granule organisation sl 2015-06-25T19:40:55Z biological_process owl:Class HP:0012321 biolink:NamedThing D-2-hydroxyglutaric aciduria An increased concentration of 2-hydroxyglutaric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:237960000|UMLS:C1833429 peter 2013-08-11T08:46:46Z human_phenotype owl:Class HP:0020097 biolink:NamedThing Infection due to encapsulated bacteria An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 18:54:35+00:00 Encapsulated bacteria have been responsible for the majority of bacteremia and meningitis in children for many decades. In children aged over 3 months, Streptococcus pneumoniae (pneumococcus), Neisseria meningitidis (meningococcus), and Haemophilus influenzae have been the predominant pathogens, with H. influenzae being a less significant problem since the introduction of vaccines against type b organisms. Disease is most common in young children less than 5 years of age and older adults aged over 65 years. In neonates and young infants, Group B Streptococcus (GBS) is the major cause of bacteremia and meningitis. These organisms have the shared characteristic of being surrounded by a polysaccharide capsule, which is a key virulence factor because it helps the bacteria evade complement deposition and subsequent phagocytosis and killing. These polysaccharides have also been the basis for successful vaccines against all except GBS, because immune responses against the polysaccharide capsule are the primary mechanism of protection for the human host. Each species can be encapsulated by polysaccharides of different biochemical compositions, which has been used for categorization into capsular groups or serotypes. robinp owl:Class GO:0110042 biolink:NamedThing negative regulation of pharynx morphogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of pharynx morphogenesis. tmpxe7fu0cj_hp_relaxed.owl kmv 2017-07-24T21:05:08Z biological_process owl:Class HP:0031389 biolink:NamedThing Abnormal MHC II surface expression A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 17:00:16+00:00 peter owl:Class HP:0011117 biolink:NamedThing Abnormality of interleukin secretion An abnormality in the production or cellular release of interleukins (a class of cytokines). tmpxe7fu0cj_hp_relaxed.owl Abnormality of IL secretion UMLS:C4023530 peter 2011-06-12T09:16:10Z human_phenotype owl:Class HP:0005694 biolink:NamedThing Partial fusion of proximal row of carpal bones tmpxe7fu0cj_hp_relaxed.owl Partial fusion of innermost row of wrist bones UMLS:C3152021 human_phenotype owl:Class HP:0009903 biolink:NamedThing Conjunctival nodule Presence of nodules in the conjunctiva of the eye. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1996949|SNOMEDCT_US:428477002 peter 2009-05-02T05:04:15Z human_phenotype owl:Class HP:0012525 biolink:NamedThing Abnormal alpha granule distribution An anomalous location and arrangement of platelet alpha granules. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022865 peter 2013-12-15T08:56:17Z human_phenotype owl:Class HP:0002626 biolink:NamedThing Venous varicosities of celiac and mesenteric vessels Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein. tmpxe7fu0cj_hp_relaxed.owl Venous varicosities of coeliac and mesenteric vessels UMLS:C1857692 human_phenotype owl:Class HP:0002619 biolink:NamedThing Varicose veins Enlarged and tortuous veins. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0042345|SNOMEDCT_US:128060009|SNOMEDCT_US:12856003|SNOMEDCT_US:399989005|MSH:D014648 human_phenotype owl:Class HP:0003869 biolink:NamedThing Humeral cortical thinning tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025541 human_phenotype owl:Class HP:0010629 biolink:NamedThing Abnormal morphology of the cortex of the humerus Any abnormality affecting the cortex of the humerus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023770 peter 2009-12-06T05:45:26Z human_phenotype owl:Class UBERON:0005726 biolink:NamedThing chemosensory system tmpxe7fu0cj_hp_relaxed.owl BILA:0000139 uberon owl:Class HP:0033729 biolink:NamedThing Minimal mesangial lupus nephritis A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence. tmpxe7fu0cj_hp_relaxed.owl Class I lupus nephritis 2021-04-16 13:41:02+00:00 peter owl:Class HP:0007560 biolink:NamedThing Unusual dermatoglyphics tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024846 human_phenotype owl:Class NBO:0000604 biolink:NamedThing social inhibition "A social behavior characterised by conscious or unconscious constraint of a behavior that might be considered objectionable in a social setting." [wikipedia:Social_inhibition] tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T03:33:25Z George Gkoutos behavior_ontology owl:Class HP:0032685 biolink:NamedThing Focal cognitive seizure with auditory agnosia A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing. tmpxe7fu0cj_hp_relaxed.owl Auditory agnosia is the inability to recognize or differentiate between sounds / words or to relate them to their meaning despite being able to hear them. peter owl:Class UBERON:0006561 biolink:NamedThing non-lymphatic part of lymphoid system An organ system subdivision that is the part of the lymphoid system that excludes the lymphatic vessels.. tmpxe7fu0cj_hp_relaxed.owl non-lymphatic lymphoid system FMA:74623 uberon owl:Class HP:0002749 biolink:NamedThing Osteomalacia Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. tmpxe7fu0cj_hp_relaxed.owl Softening of the bones UMLS:C0029442|SNOMEDCT_US:4598005 human_phenotype owl:Class CHEBI:25701 biolink:NamedThing organic oxide An oxide in which the oxygen atom is bonded to a carbon atom. tmpxe7fu0cj_hp_relaxed.owl organic oxides chebi_ontology owl:Class GO:1905632 biolink:NamedThing protein localization to euchromatin A process in which a protein is transported to, or maintained in, a location within an euchromatin. tmpxe7fu0cj_hp_relaxed.owl protein localisation in euchromatin|protein localisation to euchromatin|protein localization in euchromatin pga 2016-11-01T16:16:14Z biological_process owl:Class HP:0004209 biolink:NamedThing Clinodactyly of the 5th finger Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). tmpxe7fu0cj_hp_relaxed.owl Bilateral fifth digit clinodactyly|Clinodactyly of the little finger|Fifth finger clinodactyly|Permanent curving of the pinkie finger|Bilateral fifth finger clinodactyly|Clinodactyly of fifth digit|Curvature of pinky finger|Curvature of little finger|Curvature of pinkie finger UMLS:C4280538|UMLS:C1850049 Minor degrees of curvature of the small finger are so common as to be considered normal. HP:0001588|HP:0006181|HP:0006083|HP:0009181|HP:0001158|HP:0004212 human_phenotype owl:Class HP:0006665 biolink:NamedThing Coat hanger sign of ribs An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger). tmpxe7fu0cj_hp_relaxed.owl Coat hanger sign of ribs UMLS:C4025010 The coat hanger abnormality of the ribs is said to be a useful diagnostic marker of paternal uniparental disomy of chromosome 14. human_phenotype owl:Class CHEBI:24963 biolink:NamedThing ketoaldonic acid Oxo carboxylic acids formally derived from aldonic acids by replacement of a secondary CHOH group by a carbonyl group. tmpxe7fu0cj_hp_relaxed.owl ketoaldonic acid|ketoaldonic acids chebi_ontology owl:Class HP:0003160 biolink:NamedThing Abnormal isoelectric focusing of serum transferrin Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded. tmpxe7fu0cj_hp_relaxed.owl Abnormal transferrin isoelectric focusing|Abnormal isoelectric focusing of serum transferrin UMLS:C2749688 Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin. human_phenotype owl:Class HP:0100143 biolink:NamedThing Small epiphysis of the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Small end part of the outermost bone of the 3rd toe UMLS:C4022278 doelkens 2010-06-24T10:23:44Z human_phenotype owl:Class HP:0100063 biolink:NamedThing Small epiphyses of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Small end part of the 3rd toe bone UMLS:C4022358 doelkens 2010-06-24T09:58:55Z human_phenotype owl:Class HP:0002401 biolink:NamedThing Stroke-like episode No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. tmpxe7fu0cj_hp_relaxed.owl Strokelike episodes|Stroke-like episodes UMLS:C1857287 Stroke-like episodes are phenotypic features predominantly of mitochondrial disorders, most frequently mitochondrial encephalopathy, lactacidosis, SLE (MELAS)-syndrome, and mimic the clinical manifestations of ischemic stroke to some extent. human_phenotype owl:Class HP:0001297 biolink:NamedThing Stroke Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. tmpxe7fu0cj_hp_relaxed.owl Cerebral vascular events|Cerebrovascular accidents|Stroke|Cerebrovascular accident UMLS:C0038454|MSH:D020521|SNOMEDCT_US:230690007 HP:0002452 owl:Class CHEBI:35179 biolink:NamedThing 2-oxo monocarboxylic acid anion An oxo monocarboxylic acid anion in which the oxo group is located at the 2-position. tmpxe7fu0cj_hp_relaxed.owl 2-oxo monocarboxylate|2-oxo monocarboxylic acid anions|a 2-oxocarboxylate -1 C2O3R 72.020 71.98474 [O-]C(=O)C([*])=O MetaCyc:2-Oxo-carboxylates|PMID:10850983 CHEBI:70795 chebi_ontology owl:Class UBERON:0002682 biolink:NamedThing abducens nucleus Nucleus located beneath the floor of the 4th ventricle in the pontine tegmentum, containing motor neurons innervating the lateral rectus muscle of the eye (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533). tmpxe7fu0cj_hp_relaxed.owl abducens nucleus proper|nucleus of abducens nerve|abducent nucleus|abducens nerve nucleus|nucleus nervi abducentis|nucleus of abducens nerve (VI)|sixth cranial nerve nucleus|nVI|abducens VI nucleus|abducens motor nuclei|nucleus abducens|motor nucleus VI|abducens motor nucleus HBA:9136|BAMS:VI|MBA:653|BM:Pons-VI|MA:0001010|NCIT:C12836|UMLS:C0152407|BAMS:6|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=585|EHDAA2:0004310|EMAPA:35105|DMBA:17279|EV:0100266|TAO:0000713|ZFA:0000713|FMA:54504|DHBA:12418|BIRNLEX:1366 http://upload.wikimedia.org/wikipedia/commons/3/30/Gray696.png uberon owl:Class Hindbrain motor nucleus which is the origin of motor axons of cranial nerve VI. From Neuroanatomy of the Zebrafish Brain.[TAO] part of medulla oblongata in ABA and ZFA; part of pons in MA and pontine tegmentum in NIF; note that pons/medulla are spatially disjoint in ABA. UBERON:0015852 biolink:NamedThing narwhal tusk A upper jaw incisor that protrudes prominently from the mouth as a single median tusk, found in narwhals. tmpxe7fu0cj_hp_relaxed.owl median incisor tusk Typically the left incisor with the right vestigial, but some males have two tusks uberon owl:Class HP:0005218 biolink:NamedThing Anoperineal fistula The presence of a fistula (abnormal tunnel) between the anal canal and the perineum. tmpxe7fu0cj_hp_relaxed.owl Perianal fistula UMLS:C1835798 owl:Class HP:0010447 biolink:NamedThing Anal fistula An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. tmpxe7fu0cj_hp_relaxed.owl Fistula in ano SNOMEDCT_US:72779005|MSH:D012003|UMLS:C0205929|MEDDRA:10002156 peter 2009-09-14T10:16:39Z owl:Class HP:0033671 biolink:NamedThing Pulmonary oligemia Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow. tmpxe7fu0cj_hp_relaxed.owl 2021-02-28 15:00:40+00:00 See Figure 44 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class GO:1900543 biolink:NamedThing negative regulation of purine nucleotide metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of purine nucleotide metabolic process. tmpxe7fu0cj_hp_relaxed.owl downregulation of purine metabolic process|down-regulation of purine metabolism|inhibition of purine metabolism|down-regulation of purine nucleotide metabolic process|inhibition of purine nucleotide metabolism|down-regulation of purine nucleotide metabolism|inhibition of purine metabolic process|negative regulation of purine metabolism|downregulation of purine nucleotide metabolism|down regulation of purine metabolism|down regulation of purine nucleotide metabolism|down-regulation of purine metabolic process|down regulation of purine nucleotide metabolic process|negative regulation of purine metabolic process|inhibition of purine nucleotide metabolic process|negative regulation of purine nucleotide metabolism|downregulation of purine nucleotide metabolic process|downregulation of purine metabolism|down regulation of purine metabolic process krc 2012-05-11T05:44:21Z biological_process owl:Class HP:0033990 biolink:NamedThing Cartilaginous tracheobronchomalacia Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness. tmpxe7fu0cj_hp_relaxed.owl Cartilaginous malacia 2021-08-18 12:24:04+00:00 This term is to be distinguihsed from its sibling Excessive dynamic airway collapse, which refers to excessive anterior displacement of the membranous wall of the trachea. peter owl:Class HP:0002786 biolink:NamedThing Tracheobronchomalacia Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways. tmpxe7fu0cj_hp_relaxed.owl MSH:D055089|UMLS:C0340231|SNOMEDCT_US:233788001 human_phenotype owl:Class HP:0041165 biolink:NamedThing Fractured maxilla A partial or complete breakage of the maxilla. tmpxe7fu0cj_hp_relaxed.owl bone maxilla owl:Class HP:0000739 biolink:NamedThing Anxiety Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. tmpxe7fu0cj_hp_relaxed.owl Anxiety disease|Anxiety|Excessive, persistent worry and fear|Anxiousness UMLS:C4020884|MSH:D001007|UMLS:C0003467|SNOMEDCT_US:48694002 owl:Class HP:0410251 biolink:NamedThing Abnormal L-selectin shedding An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection. tmpxe7fu0cj_hp_relaxed.owl 2018-10-19 17:56:39+00:00 owl:Class HP:0100477 biolink:NamedThing Symphalangism affecting the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Fused outermost bone of the 4th toe UMLS:C4022050 human_phenotype owl:Class CHEBI:25978 biolink:NamedThing phenylacetic acids Any monocarboxylic acid that is phenylacetic acid or its substituted derivatives. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0012251 biolink:NamedThing ST segment elevation An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0520886|SNOMEDCT_US:164931005|SNOMEDCT_US:76388001 ST segment elevation may have multiple causes including myocardial infaction, left ventricular aneurysm, and hyperkalemia. peter 2013-04-07T09:03:06Z human_phenotype owl:Class HP:0005473 biolink:NamedThing Fusion of middle ear ossicles Bony fusion of malleus, incus, and stapes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1862068 human_phenotype owl:Class HP:0032130 biolink:NamedThing Mycobacterium abscessus abscessus infection Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections. tmpxe7fu0cj_hp_relaxed.owl 2018-11-22 13:30:48+00:00 peter owl:Class UBERON:0007355 biolink:NamedThing bony part of pharyngotympanic tube The bony part of pharyngotympanic tube is about 12 mm. in length. It begins in the carotid wall of the tympanic cavity, below the septum canalis musculotubarii, and, gradually narrowing, ends at the angle of junction of the squama and the petrous portion of the temporal bone, its extremity presenting a jagged margin which serves for the attachment of the cartilaginous portion. tmpxe7fu0cj_hp_relaxed.owl pars ossea (tuba auditiva)|pars ossea (tuba auditoria)|osseous portion|osseous portion of eustachian tube|bony part of auditory tube|bony part of eustachian tube|pars ossea tubae auditivae FMA:60057 http://upload.wikimedia.org/wikipedia/commons/9/9d/Gray911.png uberon owl:Class HP:0033021 biolink:NamedThing Transient decreased circulating IgE A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood. tmpxe7fu0cj_hp_relaxed.owl Transient decreased IgE in blood peter owl:Class HP:0033248 biolink:NamedThing Multiple pulmonary interstitial hyalinized nodules Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin. tmpxe7fu0cj_hp_relaxed.owl 2020-11-25 14:12:48+00:00 peter owl:Class HP:0040332 biolink:NamedThing Multifocal hypointensity of cerebral white matter on MRI tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-5316-1399 owl:Class HP:0031386 biolink:NamedThing Increased micromegakaryocyte count The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 16:35:34+00:00 Micromegakaryocytes are characteristic of myelodysplastic syndromebut may be seen in other conditions. peter owl:Class HP:0012143 biolink:NamedThing Abnormal megakaryocyte morphology Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cells of the megakaryocyte lineage UMLS:C4023026 peter 2012-09-16T08:20:38Z human_phenotype owl:Class HP:0030361 biolink:NamedThing Abnormal circulating eicosanoid concentration Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid). tmpxe7fu0cj_hp_relaxed.owl Abnormality of icosanoid metabolism UMLS:C4072901 The icosanoids include the prostaglandins, prostacyclins, thromboxanes, leukotrienes, and epoxyeicosatrienoic acids. Icosanoids have various roles in processes that regulate inflammation, fever, blood pressure, blood clotting, immune system function, reproductive processes and tissue growth, and the sleep/wake cycle. owl:Class HP:0008330 biolink:NamedThing Reduced von Willebrand factor activity Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. tmpxe7fu0cj_hp_relaxed.owl Decreased von willebrand factor activity UMLS:C4024701 Von Willebrand factor (VWF) is a key hemostatic protein, but documenting its function through laboratory tests is not always straightforward. VWF serves as a carrier protein for factor VIII (FVIII), and also facilitates platelet adhesion through its interaction with platelet GPIb on the platelet surface and through its binding to the subendothelial matrix. This interaction is driven in vivo by shear stress, which induces a conformational change in VWF that allows it to bind platelet GPIb. In vitro, however, this interaction is induced by the antibiotic ristocetin, which enables VWF and platelet GPIb to interact in the absence of shear forces. Laboratory testing of VWF utilizes ristocetin in the VWF ristocetin cofactor activity assay (VWF:RCo), which is a measure of VWF binding to platelets, or by ristocetin-induced platelet aggregation (RIPA). human_phenotype owl:Class HP:0100746 biolink:NamedThing Macrodactyly of finger A type of Macrodactyly affecting one or several fingers. tmpxe7fu0cj_hp_relaxed.owl Macrodactyly of hands UMLS:C0574044|MSH:C537720|SNOMEDCT_US:297195000 doelkens 2011-06-06T06:29:55Z human_phenotype owl:Class GO:0051258 biolink:NamedThing protein polymerization The process of creating protein polymers, compounds composed of a large number of component monomers; polymeric proteins may be made up of different or identical monomers. Polymerization occurs by the addition of extra monomers to an existing poly- or oligomeric protein. tmpxe7fu0cj_hp_relaxed.owl protein polymer biosynthetic process|protein polymer formation|protein polymer biosynthesis biological_process owl:Class HP:0045005 biolink:NamedThing Neural tube defect A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. tmpxe7fu0cj_hp_relaxed.owl Abnormality of neural tube closure SNOMEDCT_US:253098009|UMLS:C0027794|MSH:D009436 HPO:skoehler owl:Class HP:0410043 biolink:NamedThing Abnormal neural tube morphology Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). tmpxe7fu0cj_hp_relaxed.owl 2017-09-20 00:25:37+00:00 Fyler:4339 ORCID:0000-0001-5208-3432 owl:Class HP:0010144 biolink:NamedThing Ivory epiphysis of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the outermost bone of the big toe UMLS:C4024015 doelkens 2009-05-29T01:22:47Z human_phenotype owl:Class GO:0032353 biolink:NamedThing negative regulation of hormone biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0003707 biolink:NamedThing Calf muscle pseudohypertrophy Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. tmpxe7fu0cj_hp_relaxed.owl Pseudohypertrophy of the calves UMLS:C1839666 Pseudohypertrophy of the calf musculature is commonly seen in certain muscular dystrophies but also with spinal muscular atrophy and other denervating conditions. human_phenotype owl:Class HP:0001430 biolink:NamedThing Abnormality of the calf musculature tmpxe7fu0cj_hp_relaxed.owl Abnormality of calf musculature|Abnormal calf muscles UMLS:C4021779 peter 2008-04-07T10:18:00Z HP:0004300 human_phenotype owl:Class HP:0010603 biolink:NamedThing Odontogenic keratocysts of the jaw A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. tmpxe7fu0cj_hp_relaxed.owl Keratocystic odontogenic tumour|Keratocysts of the jaw|Keratocystic odontogenic tumor UMLS:C1708604 Keratocystic odontogenic tumor (KCOT) most commonly affects the mandible, but may also be localized in the maxilla. sandra1 2009-10-27T02:26:31Z human_phenotype owl:Class CHEBI:18367 biolink:NamedThing phosphate(3-) A phosphate ion that is the conjugate base of hydrogenphosphate. tmpxe7fu0cj_hp_relaxed.owl tetraoxophosphate(3-)|PO4(3-)|[PO4](3-)|PHOSPHATE ION|Phosphate|phosphate|Orthophosphate|tetraoxophosphate(V)|tetraoxidophosphate(3-) -3 O4P InChI=1S/H3O4P/c1-5(2,3)4/h(H3,1,2,3,4)/p-3 NBIIXXVUZAFLBC-UHFFFAOYSA-K 94.97136 94.95507 [O-]P([O-])([O-])=O Reaxys:3903772|PDBeChem:PO4|CAS:14265-44-2|Gmelin:1997|Beilstein:3903772|KEGG:C00009 CHEBI:14791|CHEBI:45024|CHEBI:7793 chebi_ontology owl:Class HP:0001051 biolink:NamedThing Seborrheic dermatitis Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. tmpxe7fu0cj_hp_relaxed.owl Dysseborrheic dermatitis|Seborrhea|Seborrheic eczema SNOMEDCT_US:50563003|UMLS:C3806554|UMLS:C0036508|SNOMEDCT_US:86708008|MSH:D012628 Dandruff. HP:0007562 human_phenotype owl:Class HP:0032435 biolink:NamedThing Neonatal omphalitis An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period. tmpxe7fu0cj_hp_relaxed.owl Omphalitis 2019-03-02 15:07:20+00:00 The umbilical cord stump then gradually dries and typically falls off within 5 to 15 days. Both skin and enteric bacteria may colonize the devitalized tissue of the stump and lead to infection. Omphalitis is, therefore, a polymicrobial infection and the most common pathogens are Staphylococcus aureus, Streptococcus pyogenes, and gram-negative bacteria such as Escherichia coli, Klebsiella pneumoniae, and Proteus mirabilis. peter owl:Class HP:0025113 biolink:NamedThing Misophonia An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound. tmpxe7fu0cj_hp_relaxed.owl 2016-11-01 01:33:52+00:00 HPO:probinson owl:Class HP:0025112 biolink:NamedThing Sound sensitivity Decreased tolerance to sound. tmpxe7fu0cj_hp_relaxed.owl Noise sensitivity 2016-11-01 01:30:30+00:00 Sound sensitivity impliees a difficulty tolerating sounds which do not seem loud or unpleasant to others. HPO:probinson owl:Class CHEBI:23966 biolink:NamedThing estrane tmpxe7fu0cj_hp_relaxed.owl estrane|oestrane|Oestran 0 C18H30 InChI=1S/C18H30/c1-18-11-4-7-17(18)16-9-8-13-5-2-3-6-14(13)15(16)10-12-18/h13-17H,2-12H2,1H3/t13?,14-,15+,16+,17-,18-/m0/s1 GRXPVLPQNMUNNX-MHJRRCNVSA-N 246.43080 246.23475 [H][C@]12CCCCC1CC[C@]1([H])[C@]2([H])CC[C@]2(C)CCC[C@@]12[H] LIPID_MAPS_instance:LMST02010000|Beilstein:3125721 chebi_ontology owl:Class CHEBI:35508 biolink:NamedThing steroid fundamental parent tmpxe7fu0cj_hp_relaxed.owl steroid fundamental parents chebi_ontology owl:Class MPATH:74 biolink:NamedThing hamartoma A focal malformation resembling a neoplasm which results from faulty development of an organ; composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element. Growth and location are usually normal for that tissue cf. Heterotopia/Choristoma MPATH:76/MPATH:477. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class MPATH:56 biolink:NamedThing developmental or adult structural defect Structural, physical or other general defect of prenatal development of the embryo and the placenta, or such as are acquired in the adult. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0008392 biolink:NamedThing Subungual hyperkeratosis A thickening of the stratum corneum in the region beneath the nails. tmpxe7fu0cj_hp_relaxed.owl Thickened, discolored skin under nail|Thickened, discoloured skin under nail SNOMEDCT_US:10165000|UMLS:C0038605 human_phenotype owl:Class UBERON:0009538 biolink:NamedThing mesenchyme of sublingual gland primordium Mesenchyme that is part of a sublingual gland primordium. tmpxe7fu0cj_hp_relaxed.owl EMAPA:17754|EHDAA2:0001937 uberon owl:Class HP:0007958 biolink:NamedThing Optic atrophy from cranial nerve compression tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024763 human_phenotype owl:Class HP:0001293 biolink:NamedThing Cranial nerve compression tmpxe7fu0cj_hp_relaxed.owl UMLS:C0521670|SNOMEDCT_US:95664006 human_phenotype owl:Class HP:0008991 biolink:NamedThing Exercise-induced leg cramps Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024607 human_phenotype owl:Class GO:0045654 biolink:NamedThing positive regulation of megakaryocyte differentiation Any process that activates or increases the frequency, rate or extent of megakaryocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl upregulation of megakaryocyte differentiation|up-regulation of megakaryocyte differentiation|activation of megakaryocyte differentiation|stimulation of megakaryocyte differentiation|up regulation of megakaryocyte differentiation biological_process owl:Class HP:0005878 biolink:NamedThing Enlarged sagittal diameter of the cervical canal tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025118 owl:Class HP:0031401 biolink:NamedThing Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. tmpxe7fu0cj_hp_relaxed.owl 2017-09-03 13:02:44+00:00 peter owl:Class HP:0031399 biolink:NamedThing Abnormal proportion of double-negative alpha-beta regulatory T cell An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal Double negative Treg distribution|Abnormal double-negative alpha-beta regulatory T cell distribution|Abnormal DN Treg distribution|Abnormal CD4-negative, CD8-negative, alpha-beta regulatory T cell distribution 2017-09-03 12:57:22+00:00 T lymphocytes bearing the alpha-beta T cell receptor (TCR) but lacking CD4, CD8, and markers of natural killer (NK) cell differentiation, i.e., TCR(+)CD3(+)CD4(-)CD8(-), are known as double-negative (DN) T cells and are defined by their capability of inhibiting immune responses via directly killing effector T cells in an antigen specific fashion. Furthermore, DN Treg cells have been shown to develop regulatory activity after encountering specific antigens, partially mediated by the acquisition of MHC-peptide complexes from antigen presenting cells (APCs). peter owl:Class HP:0410064 biolink:NamedThing Increased level of galactitol in red blood cells An increase in the level of galactitol in the red blood cells. tmpxe7fu0cj_hp_relaxed.owl Increased level of galactitol in erythrocytes 2018-01-29 22:40:39+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0010133 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the innermost bone of the big toe UMLS:C4024026 doelkens 2009-05-29T01:22:23Z human_phenotype owl:Class HP:0012505 biolink:NamedThing Enlarged pituitary gland An abnormally increased size of the pituitary gland. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0342422|SNOMEDCT_US:237718009 peter 2013-11-30T09:36:45Z human_phenotype owl:Class HP:0005195 biolink:NamedThing Polyarticular arthropathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025239 human_phenotype owl:Class HP:0030125 biolink:NamedThing Sacralization of the fifth lumbar vertebra A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both. tmpxe7fu0cj_hp_relaxed.owl L5 sacralization UMLS:C4021052 This anomaly is observed at about 3.5 percent of people and is usually bilateral. owl:Class UBERON:0009745 biolink:NamedThing lymph node medullary cord The dense rope-like structures of lymphatic tissue located between the medullary sinuses in the medulla of a lymph node. tmpxe7fu0cj_hp_relaxed.owl medullary cord EMAPA:37897 uberon owl:Class UBERON:0000055 biolink:NamedThing vessel A tubular structure that contains, conveys body fluid, such as blood or lymph. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0013151 biolink:NamedThing choroidal artery One of two arteries (anterior and posterior choroidal artery) that supply blood to the choroid plexus, optic tract, hippocampus, globus pallidus, and other various brain regions. tmpxe7fu0cj_hp_relaxed.owl artery of choroid plexus|choroid artery UMLS:C0226164|NCIT:C32310 uberon owl:Class HP:0005524 biolink:NamedThing Macrocytic hemolytic disease tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025185 human_phenotype owl:Class HP:0033727 biolink:NamedThing Diffuse lupus nephritis A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. tmpxe7fu0cj_hp_relaxed.owl Class IV lupus nephritis 2021-04-16 13:34:10+00:00 peter owl:Class HP:0010087 biolink:NamedThing Bullet-shaped proximal phalanx of the hallux An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped innermost bone of the big toe UMLS:C4024060 doelkens 2009-05-29T12:17:16Z human_phenotype owl:Class HP:0034093 biolink:NamedThing Anti-Ro52/TRIM21 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21. tmpxe7fu0cj_hp_relaxed.owl Anti-Ro52 antibody positivity 2021-12-19 02:43:23+00:00 peter owl:Class HP:0000545 biolink:NamedThing Myopia An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. tmpxe7fu0cj_hp_relaxed.owl Nearsightedness|Near sightedness|Close sighted|Near sighted MSH:D009216|SNOMEDCT_US:57190000|UMLS:C0027092 HP:0007847|HP:0001110|HP:0008012 human_phenotype owl:Class NCBITaxon:4894 biolink:NamedThing Schizosaccharomycetaceae tmpxe7fu0cj_hp_relaxed.owl Schizosaccharomycetoideae|fission yeasts GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:34346 biolink:NamedThing Schizosaccharomycetales tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0025472 biolink:NamedThing Recurrent plantar mycosis A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 12:31:56+00:00 HPO:probinson owl:Class UBERON:0005341 biolink:NamedThing ventral commissure The fiber tracts that connect the ventral region of the two cerebral hemispheres and span the longitudinal fissure, including the anterior and the habenular commissures[MP]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37845 uberon owl:Class HP:0031487 biolink:NamedThing Capillary malformation of the lip A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis. tmpxe7fu0cj_hp_relaxed.owl 2017-09-18 00:22:25+00:00 peter owl:Class HP:0006355 biolink:NamedThing Agenesis of mandibular central incisor Agenesis of lower secondary incisor or lower primary incisor. tmpxe7fu0cj_hp_relaxed.owl Failure of development of mandibular central incisor|Absence of lower central incisor|Absence of mandibular central incisor|Missing mandibular central incisor|Missing lower central incisor UMLS:C4025054|UMLS:C1840225 human_phenotype owl:Class HP:0006192 biolink:NamedThing Tapered phalanx of finger Phalanges of the fingers becoming thinner toward the distal end. tmpxe7fu0cj_hp_relaxed.owl Tapered finger bone UMLS:C4025084 human_phenotype owl:Class PATO:0002326 biolink:NamedThing angle An orientation inhering in a bearer by virtue of the bearer's placement at an angle. tmpxe7fu0cj_hp_relaxed.owl 2011-11-23T12:06:09Z quality owl:Class HP:0011901 biolink:NamedThing Dysfibrinogenemia Qualitatively abnormal fibrinogen. tmpxe7fu0cj_hp_relaxed.owl Dysfibrinogenaemia UMLS:C1260903|SNOMEDCT_US:111589005 peter 2012-06-03T03:40:21Z human_phenotype owl:Class HP:0011898 biolink:NamedThing Abnormality of circulating fibrinogen An abnormality of the level of activity of circulating fibrinogen. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023139 Fibrinogen is an essential hemostatic factor that is converted to fibrin (a final product of the hemostatic pathway) by activated thrombin. peter 2012-06-03T03:35:43Z human_phenotype owl:Class UBERON:0008962 biolink:NamedThing forelimb bone A bone that is part of a forelimb region. Examples: humerus, any of the phalanges. Counter-example: scapula (a bone of the pectoral girdle). Note that we consider the forelimb to end at the shoulder. tmpxe7fu0cj_hp_relaxed.owl wing bone|free forelimb bone MESH:D001133|GAID:178|NCIT:C12983|UMLS:C0003793 uberon owl:Class HP:0033591 biolink:NamedThing Staghorn calculus Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system. tmpxe7fu0cj_hp_relaxed.owl Staghorn renal stone 2021-01-28 02:08:09+00:00 peter owl:Class HP:0000787 biolink:NamedThing Nephrolithiasis The presence of calculi (stones) in the kidneys. tmpxe7fu0cj_hp_relaxed.owl Renal calculi|Renal stones|Kidney stones MSH:D053040|UMLS:C0392525 Urinary stone disease is caused by supersaturation of the urine by stone forming substances including calcium, oxalate, and uric acid. Crystals or foreign bodies can act as a nidus for further stone formation. The resulting kidney stones (calculi) lead to symptoms if they become impacted in the ureter. HP:0000102 human_phenotype owl:Class UBERON:0003232 biolink:NamedThing epithelium of knee An epithelium that is part of a knee [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl knee epithelial tissue|epithelial tissue of knee|knee epithelium VHOG:0000810|EHDAA2:0000896|EHDAA:6186|EMAPA:17494|EHDAA:5161 uberon owl:Class HP:0009612 biolink:NamedThing Duplication of the distal phalanx of the thumb Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. tmpxe7fu0cj_hp_relaxed.owl Duplicated terminal phalanx of thumb|Double thumb distal phalanges|Partial/complete duplication of the distal phalanx of the thumb|Duplication of terminal thumb phalanx|Duplication of distal thumb phalanx|Duplication of the outermost bone of the thumb UMLS:C4021425 doelkens 2009-01-29T03:51:43Z human_phenotype owl:Class HP:0011179 biolink:NamedThing Beta-EEG EEG dominated by diffuse beta-waves (>13 Hz). tmpxe7fu0cj_hp_relaxed.owl Beta wave electroencephalography UMLS:C4023493 Beta-EEG is a rare finding but not generally pathologic. hecht 2011-11-19T10:25:00Z human_phenotype owl:Class HP:0500194 biolink:NamedThing Decreased CSF isoleucine concentration Abnormally decreased levels of isoleucine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Low levels of isoleucine in cerebrospinal fluid 2019-02-25 16:25:36+00:00 owl:Class HP:0000891 biolink:NamedThing Cervical ribs tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:72535009|UMLS:C0158779|MSH:D057070 human_phenotype owl:Class HP:0005815 biolink:NamedThing Supernumerary ribs The presence of more than 12 rib pairs. tmpxe7fu0cj_hp_relaxed.owl Extra ribs UMLS:C0345397|SNOMEDCT_US:205460009 HP:0000901 owl:Class CHEBI:35552 biolink:NamedThing heterocyclic organic fundamental parent tmpxe7fu0cj_hp_relaxed.owl heterocyclic parent hydrides|heterocyclic fundamental parent|organic heterocyclic fundamental parents|heterocyclic organic fundamental parents chebi_ontology owl:Class CHEBI:33245 biolink:NamedThing organic fundamental parent An organic fundamental parent is a structure used as a basis for substitutive names in organic nomenclature, containing, in addition to one or more hydrogen atoms, a single atom of an element, a number of atoms (alike or different) linked together to form an unbranched chain, a monocyclic or polycyclic ring system, or a ring assembly or ring/chain system. tmpxe7fu0cj_hp_relaxed.owl organic fundamental parents|organic parent hydrides chebi_ontology owl:Class HP:0010485 biolink:NamedThing Hyperextensibility at elbow The ability of the elbow joint to move beyond its normal range of motion. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023808 peter 2009-09-16T10:05:52Z human_phenotype owl:Class HP:0001320 biolink:NamedThing Cerebellar vermis hypoplasia Underdevelopment of the vermis of cerebellum. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of the cerebellar vermis|Cerebellar vermal hypoplasia|Hypoplastic cerebellar vermis UMLS:C1840379 owl:Class CHEBI:48540 biolink:NamedThing beta-adrenergic drug Any of the drugs that act on beta-adrenergic receptors. tmpxe7fu0cj_hp_relaxed.owl beta-adrenergic drugs chebi_ontology owl:Class CHEBI:37962 biolink:NamedThing adrenergic agent Any agent that acts on an adrenergic receptor or affects the life cycle of an adrenergic transmitter. tmpxe7fu0cj_hp_relaxed.owl adrenergic neuron agents|adrenergic drugs|adrenergic agents|adrenergics|adrenergic drug chebi_ontology owl:Class GO:0000819 biolink:NamedThing sister chromatid segregation The cell cycle process in which sister chromatids are organized and then physically separated and apportioned to two or more sets. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0002539 biolink:NamedThing Cortical dysplasia The presence of developmental dysplasia of the cerebral cortex. tmpxe7fu0cj_hp_relaxed.owl Neocortical dysplasia SNOMEDCT_US:253153000|UMLS:C0431380|MSH:D054220 HP:0007139 owl:Class HP:0020206 biolink:NamedThing Simple ear The pinna has fewer folds and grooves than usual. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-12-23 20:41:28+00:00 owl:Class HP:0041211 biolink:NamedThing Fractured proximal phalanx of digit 2 A partial or complete breakage of the proximal phalanx of digit 2. tmpxe7fu0cj_hp_relaxed.owl bone proximal phalanx of digit 2 owl:Class HP:0012527 biolink:NamedThing Abnormal alpha granule content A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022863 The alpha granules contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. peter 2013-12-15T09:02:48Z human_phenotype owl:Class HP:0033988 biolink:NamedThing Amygdala microinfarct An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically. tmpxe7fu0cj_hp_relaxed.owl 2021-08-18 12:10:54+00:00 peter owl:Class HP:0033668 biolink:NamedThing Abnormal amygdala morphology A structural anomaly of the amygdala. tmpxe7fu0cj_hp_relaxed.owl Abnormal morphology of the amygdala 2021-02-28 14:53:43+00:00 The amygdala is a centrally located brain region that plays fundamental roles in human emotion, memory, and various homeostatic responses. Situated in the rostral part of the temporal lobe and abutting the basal forebrain, the human amygdala is closely connected with olfactory structures, the hippocampal formation, basal ganglia, basal forebrain components including ventral striatum and nucleus basalis, insula, claustrum, hypothalamus, and various thalamic nuclei. The amygdala contributes to white matter tracts that stream nearby, including the anterior commissure, inferior longitudinal fasciculus, stria terminalis, and uncinate fasciculus. peter owl:Class NCBITaxon:39107 biolink:NamedThing Murinae tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 NCBITaxon:109679 ncbi_taxonomy owl:Class NCBITaxon:10066 biolink:NamedThing Muridae tmpxe7fu0cj_hp_relaxed.owl GC_ID:1|PMID:15371245 ncbi_taxonomy owl:Class GO:2000106 biolink:NamedThing regulation of leukocyte apoptotic process Any process that modulates the frequency, rate or extent of leukocyte apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of leukocyte apoptosis mah 2010-09-15T01:42:05Z biological_process owl:Class UBERON:0005685 biolink:NamedThing midgut dorsal mesentery A dorsal mesentery that is part of a midgut. tmpxe7fu0cj_hp_relaxed.owl RETIRED_EHDAA2:0001187|EMAPA:17040|EMAPA:18671|EMAPA:16722 uberon owl:Class UBERON:0002296 biolink:NamedThing dorsal mesentery The mesentery that originates from the dorsal side of the peritoneal cavity[ZFA]. tmpxe7fu0cj_hp_relaxed.owl dorsal mesogastrium|mesenterium dorsale commune FMA:79795|TAO:0005130|EHDAA:3019|ZFA:0005130|EHDAA:3921|EHDAA:3033|EHDAA:3971|EHDAA:3934|EHDAA2:0004560|EHDAA:3957 http://upload.wikimedia.org/wikipedia/commons/8/85/Gray985.png uberon owl:Class The mesentery that originates from the dorsal side of the peritoneal cavity.[TAO] UBERON:0003483 biolink:NamedThing thymus lymphoid tissue A portion of lymphoid tissue that is part of a thymus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl thymus gland lymphoid tissue|lymphoid tissue of thymus gland|lymphoid tissue of thymus NCIT:C38515|MA:0002673|UMLS:C1515429|EMAPA:37766|MESH:A06.407.850 uberon owl:Class HP:0031623 biolink:NamedThing Brow ptosis Drooping of the upper eyebrow below the superior orbital rim. tmpxe7fu0cj_hp_relaxed.owl Drooping brow 2017-12-16 13:48:49+00:00 Eybrow ptosis can be caused by age-related changes in the periorbital soft tissues and soft tissues of the face. peter owl:Class HP:0004458 biolink:NamedThing Dilatated internal auditory canal The presence of a dilated inner part of external acoustic meatus. tmpxe7fu0cj_hp_relaxed.owl Bulbous internal auditory canal|Enlarged internal auditory canal UMLS:C2676973 human_phenotype owl:Class HP:0011384 biolink:NamedThing Abnormality of the internal auditory canal An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the internal acoustic meatus UMLS:C4021155 peter 2012-03-09T07:26:47Z human_phenotype owl:Class UBERON:0012291 biolink:NamedThing lateral malleolus of fibula Malleolus is the name for the bony prominence on each side of the ankle. tmpxe7fu0cj_hp_relaxed.owl external malleolus of fibula|distal extremity of fibula|lateral malleolus|malleolar bone of ankle|malleolar bone|fibular malleolus EMAPA:37893|FMA:35502 uberon owl:Class In bovids, the distal end of the fibula is present only as the lateral malleolus, a separate bone that articulates with the lateral side of the distal tibia. HP:0011076 biolink:NamedThing Abnormality of premolar An abnormality of premolar tooth. tmpxe7fu0cj_hp_relaxed.owl Abnormality of premolar|Abnormality of bicuspid UMLS:C4023548 peter 2011-03-11T09:56:17Z human_phenotype owl:Class HP:0012275 biolink:NamedThing Autosomal dominant inheritance with maternal imprinting A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022975 Since the maternally inherited copy of such genes is silenced normally, only a paternally transmitted mutation leads to disease in this kind of inheritance. peter 2013-04-07T02:54:09Z human_phenotype owl:Class HP:0000006 biolink:NamedThing Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. tmpxe7fu0cj_hp_relaxed.owl Autosomal dominant type|Autosomal dominant form|Autosomal dominant UMLS:C0443147|SNOMEDCT_US:263681008 HP:0001448|HP:0001463|HP:0001447|HP:0001456|HP:0001415|HP:0001451|HP:0001455 human_phenotype owl:Class UBERON:0005979 biolink:NamedThing crista terminalis The vertical crest of the interior wall of the right atrium that lies to the right of the sinus of the vena cava and separates this from the remainder of the right atrium. tmpxe7fu0cj_hp_relaxed.owl crista terminalis of right atrium|crista terminalis atrii dextri|crista terminalis cordis EMAPA:37837|FMA:9236|Wikipedia:Crista_terminalis|SCTID:277693004 uberon owl:Class UBERON:0000391 biolink:NamedThing leptomeninx Pia mater or arachnoid mater. tmpxe7fu0cj_hp_relaxed.owl pia-arachnoid of neuraxis|arachnoidea mater et pia mater|arachnoid mater and pia mater|leptomeninges|pia-arachnoid NCIT:C32979|CALOHA:TS-0546|BTO:0001634|UMLS:C0228126|FMA:231515|NLXANAT:090207 check relationship to secondary meninx uberon owl:Class in FMA/NIF this is a superclass of PM/AM - in BTO it is the mereological sum. We go with superclass here, as we are naming the class in the singular HP:0031513 biolink:NamedThing Luse bodies Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands. tmpxe7fu0cj_hp_relaxed.owl 2017-09-22 01:34:13+00:00 The periodicity of normal collagen fibers is substantially lower than that of Luse bodies. peter owl:Class HP:0025051 biolink:NamedThing Reduced brain creatine level by MRS A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl Reduced brain creatine level by magnetic resonance spectroscopy|Low brain creatine phosphate 2016-09-26 08:48:05+00:00 HPO:probinson owl:Class HP:0025049 biolink:NamedThing Abnormal brain creatine level by MRS tmpxe7fu0cj_hp_relaxed.owl Abnormal brain creatine level by magnetic resonance spectroscopy 2016-09-26 08:45:22+00:00 A deviation from normal in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). HPO:probinson owl:Class GO:0010543 biolink:NamedThing regulation of platelet activation Any process that modulates the rate or frequency of platelet activation. Platelet activation is a series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0007338 biolink:NamedThing Hypermetric saccades A saccade that overshoots the target with the dynamic saccade. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:246769000|UMLS:C0423083 human_phenotype owl:Class HP:0001872 biolink:NamedThing Abnormality of thrombocytes An abnormality of platelets. tmpxe7fu0cj_hp_relaxed.owl Thrombasthenia|Blood platelet disease|Platelet abnormalities MSH:D013915|SNOMEDCT_US:127566005|SNOMEDCT_US:32942005|UMLS:C0040015|UMLS:C0151854|UMLS:C4020863 Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation. HP:0005554|HP:0004807 owl:Class HP:0033333 biolink:NamedThing Jaw contracture Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 16:42:08+00:00 peter owl:Class CHEBI:36339 biolink:NamedThing baryon Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek betaalpharhoupsilonsigma (heavy). tmpxe7fu0cj_hp_relaxed.owl baryons chebi_ontology owl:Class HP:0009817 biolink:NamedThing Aplasia involving bones of the lower limbs tmpxe7fu0cj_hp_relaxed.owl Absent bones of the lower limbs UMLS:C4024198 doelkens 2009-02-23T05:10:03Z human_phenotype owl:Class UBERON:0011678 biolink:NamedThing hindlimb intermedium bone A proximal tarsal bone that articulates with the fibula. tmpxe7fu0cj_hp_relaxed.owl intermedium of pes|pedal intermedium|intermedium|hidlimb intermedium|intermedium (hind) AAO:0000923 uberon owl:Class The amphibian intermedium forms part of the astragalus in amniotes[http://www.science.marshall.edu/okeefef/PDFS/OKeefe_et_al_2006_JMorph.pdf] HP:3000071 biolink:NamedThing Abnormality of levator labii superioris An abnormality of a levator labii superioris. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073278 vasilevs 2015-08-07T03:38:52Z human_phenotype owl:Class HP:0011636 biolink:NamedThing Abnormal coronary artery origin Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023253 peter 2012-04-09T08:32:24Z human_phenotype owl:Class GO:1902810 biolink:NamedThing negative regulation of skeletal muscle fiber differentiation Any process that stops, prevents or reduces the frequency, rate or extent of skeletal muscle fiber differentiation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of skeletal muscle fiber differentiation|down regulation of skeletal muscle fiber differentiation|downregulation of skeletal muscle fiber differentiation|inhibition of skeletal muscle fiber differentiation mr 2014-03-26T21:18:32Z biological_process owl:Class UBERON:0018598 biolink:NamedThing lower primary canine tooth A primary canine tooth that is part of a lower jaw region. tmpxe7fu0cj_hp_relaxed.owl primary lower canine tooth|lower deciduous canine tooth|lower primary tooth C|deciduous lower canine tooth FMA:84229 uberon owl:Class UBERON:0018622 biolink:NamedThing lower canine tooth tmpxe7fu0cj_hp_relaxed.owl lower cuspid|mandibular canine tooth|lower canine uberon owl:Class GO:0060263 biolink:NamedThing regulation of respiratory burst Any process that modulates the rate frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class PATO:0000502 biolink:NamedThing delayed A quality of a process which starts later than the natural start time or the reference process. tmpxe7fu0cj_hp_relaxed.owl late quality owl:Class PATO:0002325 biolink:NamedThing onset quality The temporal relation between the start of the process with respect to a reference process. tmpxe7fu0cj_hp_relaxed.owl initiation 2011-11-23T11:47:34Z quality owl:Class HP:0040313 biolink:NamedThing Oligoarthritis A type of arthritis that affects up to four joints in the first six months of disease. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0004394 biolink:NamedThing Multiple gastric polyps tmpxe7fu0cj_hp_relaxed.owl UMLS:C0236048|MSH:C562464|SNOMEDCT_US:78809005|SNOMEDCT_US:87252009 peter 2008-03-18T09:11:00Z human_phenotype owl:Class HP:0010674 biolink:NamedThing Abnormality of the curvature of the vertebral column The presence of an abnormal curvature of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl Abnormal curve of the spine|Curved spine|Abnormal curve of the backbone|Curvature of spine|Abnormal curving of the spine UMLS:C4023747 sandra1 2010-02-27T06:28:19Z human_phenotype owl:Class CL:0002548 biolink:NamedThing fibroblast of cardiac tissue A fibroblast that is part of the heart. tmpxe7fu0cj_hp_relaxed.owl cardiac fibroblast tmeehan 2011-02-28T04:57:44Z cell owl:Class HP:0009278 biolink:NamedThing Ulnar deviation of the 4th finger Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger). tmpxe7fu0cj_hp_relaxed.owl Ulnar deviation of the ring finger UMLS:C4024474 doelkens 2009-01-07T04:24:53Z human_phenotype owl:Class GO:0006012 biolink:NamedThing galactose metabolic process The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. tmpxe7fu0cj_hp_relaxed.owl galactose metabolism Wikipedia:Galactose biological_process owl:Class GO:0019318 biolink:NamedThing hexose metabolic process The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. tmpxe7fu0cj_hp_relaxed.owl hexose metabolism biological_process owl:Class UBERON:0003432 biolink:NamedThing chest nerve A nerve that is part of a chest [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl anterior thoracic region nerve|nerve of chest|anterolateral part of thorax nerve|nerve of front of thorax|nerve of anterolateral part of thorax|front of thorax nerve|nerve of anterior thoracic region MA:0000551|EMAPA:37266 uberon owl:Class GO:0046031 biolink:NamedThing ADP metabolic process The chemical reactions and pathways involving ADP, adenosine 5'-diphosphate. tmpxe7fu0cj_hp_relaxed.owl ADP metabolism biological_process owl:Class GO:0009150 biolink:NamedThing purine ribonucleotide metabolic process The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpxe7fu0cj_hp_relaxed.owl purine ribonucleotide metabolism biological_process owl:Class GO:0021906 biolink:NamedThing hindbrain-spinal cord boundary formation The process whose specific outcome is the formation of the hindbrain-spinal cord boundary. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0007970 biolink:NamedThing Congenital ptosis tmpxe7fu0cj_hp_relaxed.owl Congenital drooping upper eyelid SNOMEDCT_US:61989004|UMLS:C0266573|SNOMEDCT_US:268163008 human_phenotype owl:Class HP:0011815 biolink:NamedThing Cephalocele A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect. tmpxe7fu0cj_hp_relaxed.owl MSH:D004677|SNOMEDCT_US:55999004|SNOMEDCT_US:48777005|SNOMEDCT_US:253101008|UMLS:C0014065 A cephalocele is a rare birth defect that is characterized by a sac-like mass protruding through a defective opening in the skull. The sac varies in size that typically consists of herniated meninges and brain tissue (meningoencephalocele or encephalocele) or fragments of disorganized neural tissue. Alternatively, the sac may contain only the meninges (cranial meningocele) or it may include part of the ventricle filled with CSF (encephalocystocele) covered by skin (from PMID:24931720). peter 2012-04-29T09:04:09Z human_phenotype owl:Class HP:0100260 biolink:NamedThing Mesoaxial polydactyly The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly. tmpxe7fu0cj_hp_relaxed.owl Intercalary polydactyly|Central polydactyly|Insertional polydactyly UMLS:C4020689|UMLS:C1848595 doelkens 2010-07-20T11:00:32Z human_phenotype owl:Class CL:1000307 biolink:NamedThing fibroblast of dense regular elastic tissue A fibroblast that is part of the dense regular elastic tissue. tmpxe7fu0cj_hp_relaxed.owl FMA:261287 cell owl:Class GO:0006573 biolink:NamedThing valine metabolic process The chemical reactions and pathways involving valine, 2-amino-3-methylbutanoic acid. tmpxe7fu0cj_hp_relaxed.owl valine metabolism biological_process owl:Class HP:0032586 biolink:NamedThing Renal interstitial plasma cell infiltration Increased numbers of plasma cells in the interstitial tissues of the kidney. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0031328 biolink:NamedThing Perivascular cardiac fibrosis A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 12:38:28+00:00 peter owl:Class PATO:0001291 biolink:NamedThing electromagnetic (EM) radiation quality A physical quality that inheres in an bearer by virtue of how that bearer interacts with electromagnetic radiation. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0001739 biolink:NamedThing radiation quality A quality that inheres in an bearer by virtue of how that bearer interacts with radiation. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0030393 biolink:NamedThing Endolymphatic sac tumor A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin). tmpxe7fu0cj_hp_relaxed.owl Aggressive papillary middle ear tumour|Heffner tumor|Low-grade adenocarcinoma of endolymphatic sac origin|Endolymphatic sac tumour|Heffner tumour|Aggressive papillary middle ear tumor UMLS:C2348239|SNOMEDCT_US:699817008 Endolymphatic sac tumors (ELSTs) may arise sporadically or in von Hippel-Lindau (VHL) disease. The symptoms (hearing loss with or without tinnitus, vertigo, impairment of cranial nerve function) and the physical and neuro-otologic examination and imaging findings (computed tomography, magnetic resonance imaging) are not specific for tumors of the cerebellopontine angle (CPA). The final diagnosis can often only be reached through histopathological and immunohistochemical evaluation of the tumor specimen. The differential diagnosis in tumors of the CPA includes paraganglioma, chondroid tumor, atypical schwannoma, meningioma, and also rare entities such as aneurysm, hemangioblastoma, craniopharyngioma, and choroid plexus papilloma. owl:Class HP:0032447 biolink:NamedThing Pulmonary bleb A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura. tmpxe7fu0cj_hp_relaxed.owl 2019-03-03 17:47:36+00:00 peter owl:Class HP:0031288 biolink:NamedThing Cobblestone-like hyperkeratosis The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 20:43:09+00:00 peter owl:Class HP:0001042 biolink:NamedThing High axial triradius tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025806 human_phenotype owl:Class HP:0100205 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the outermost bone of the pinkie toe|Enlarged end part of the outermost bone of the pinky toe|Enlarged end part of the outermost bone of the little toe UMLS:C4022216 doelkens 2010-06-24T05:03:31Z human_phenotype owl:Class HP:0100465 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 4th toe Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the innermost bone of the 4th toe UMLS:C4022062 human_phenotype owl:Class HP:0003521 biolink:NamedThing Disproportionate short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. tmpxe7fu0cj_hp_relaxed.owl Short-trunked dwarfism|Disproportionate short-trunked dwarfism|Disproportionate short-trunked short stature UMLS:C1846435 HP:0003500|HP:0001524|HP:0008923 owl:Class UBERON:0013479 biolink:NamedThing lung endothelium A blood vessel endothelium that is part of a lung [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl respiratory endothelium CALOHA:TS-0573|BTO:0004128 uberon owl:Class CL:1000692 biolink:NamedThing kidney interstitial fibroblast tmpxe7fu0cj_hp_relaxed.owl KUPO:0001102 cell owl:Class HP:0003484 biolink:NamedThing Upper limb muscle weakness Weakness of the muscles of the arms. tmpxe7fu0cj_hp_relaxed.owl Weak arm|Decreased arm strength SNOMEDCT_US:713512009|UMLS:C1698196 human_phenotype owl:Class HP:0011985 biolink:NamedThing Acholic stools Clay colored stools lacking bile pigment. tmpxe7fu0cj_hp_relaxed.owl Discolored, acholic stools|Clay colored stools|Acholia|Clay coloured stools SNOMEDCT_US:70396004|UMLS:C2675627 peter 2012-07-19T10:31:22Z HP:0200112 human_phenotype owl:Class HP:0001396 biolink:NamedThing Cholestasis Impairment of bile flow due to obstruction in bile ducts. tmpxe7fu0cj_hp_relaxed.owl Slowed or blocked flow of bile from liver SNOMEDCT_US:197446008|SNOMEDCT_US:33688009|UMLS:C0008370|SNOMEDCT_US:30144000|MSH:D002779 human_phenotype owl:Class CHEBI:26455 biolink:NamedThing pyrroles An azole that includes only one N atom and no other heteroatom as a part of the aromatic skeleton. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class UBERON:0004330 biolink:NamedThing proximal phalanx of manual digit 4 A proximal phalanx that is part of a hand digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal phalanx of 4th finger|proximal phalanx of fourth digit of hand|proximal phalanx of fourth finger|fourth proximal phalanx of hand|fourth finger proximal phalanx|manual digit 4 proximal phalanx|proximal phalanx of 4th digit of hand|proximal phalanx of manual digit IV|4th digit of hand proximal phalanx|hand digit 4 proximal phalanx|manual phalanx IV-1|proximal phalanx of ring finger|4th finger proximal phalanx FMA:23921 uberon owl:Class HP:0040045 biolink:NamedThing Abnormal hemidiaphragm morphology tmpxe7fu0cj_hp_relaxed.owl Abnormality of the hemidiaphragms UMLS:C4022472 HPO:skoehler owl:Class HP:0000775 biolink:NamedThing Abnormality of the diaphragm Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity. tmpxe7fu0cj_hp_relaxed.owl Diaphragm issues|Diaphragmatic defect|Abnormality of the diaphragm UMLS:C1848873 HP:0005204 human_phenotype owl:Class CL:0002078 biolink:NamedThing meso-epithelial cell Epithelial cell derived from mesoderm or mesenchyme. tmpxe7fu0cj_hp_relaxed.owl epithelial mesenchymal cell FMA:69076 tmeehan 2010-06-29T03:49:14Z cell owl:Class HP:0009180 biolink:NamedThing Ulnar deviation of the 5th finger Displacement of the 5th finger towards the ulnar side. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024553 peter 2008-12-29T03:30:05Z human_phenotype owl:Class UBERON:0018376 biolink:NamedThing molar tooth 1 The molar tooth of the upper or lower jaw that is phylogenetically number 1. tmpxe7fu0cj_hp_relaxed.owl molar 1|m1|first molar tooth|molar 1 tooth FMA:321614 uberon owl:Class HP:0005317 biolink:NamedThing Increased pulmonary vascular resistance Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1867423 owl:Class GO:0002185 biolink:NamedThing creatine kinase complex A protein complex having creatine kinase activity. tmpxe7fu0cj_hp_relaxed.owl hjd 2011-06-14T02:12:19Z cellular_component owl:Class GO:0061695 biolink:NamedThing transferase complex, transferring phosphorus-containing groups A transferase complex capable of catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). tmpxe7fu0cj_hp_relaxed.owl dph 2015-05-06T11:22:38Z cellular_component owl:Class HP:0008682 biolink:NamedThing Renal tubular epithelial necrosis Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). tmpxe7fu0cj_hp_relaxed.owl Renal tubular necrosis|Acute tubular necrosis UMLS:C0022672|SNOMEDCT_US:35455006|MSH:D007683 Renal tubular epithelial necrosis is a histomorphological definition that corresponds to the clinical term of acture tubular necrosis. Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases. owl:Class GO:0048199 biolink:NamedThing vesicle targeting, to, from or within Golgi The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. tmpxe7fu0cj_hp_relaxed.owl dictyosome vesicle targeting|vesicle targeting, to, from or within dictyosome|Golgi vesicle targeting biological_process owl:Class GO:0007506 biolink:NamedThing gonadal mesoderm development The process whose specific outcome is the progression of the gonadal mesoderm over time, from its formation to the mature structure. The gonadal mesoderm is the middle layer of the three primary germ layers of the embryo which will go on to form the gonads of the organism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CL:0008009 biolink:NamedThing transversely striated visceral muscle cell A visceral muscle that is transversely striated. Examples include the visceral muscle cells of arthropods. tmpxe7fu0cj_hp_relaxed.owl owl:Class CL:0008007 biolink:NamedThing visceral muscle cell A muscle cell that is part of some visceral muscle tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0008198 biolink:NamedThing Congenital hypoparathyroidism Deficiency of parathyroid hormone with congenital onset. tmpxe7fu0cj_hp_relaxed.owl Neonatal hypoparathyroidism UMLS:C1455734 HP:0008201|HP:0008199 human_phenotype owl:Class HP:0000829 biolink:NamedThing Hypoparathyroidism A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. tmpxe7fu0cj_hp_relaxed.owl Low parathyroid hormone|Decreased parathyroid hormone secretion UMLS:C0020626|MSH:D007011|SNOMEDCT_US:36976004 HP:0008292|HP:0000856 human_phenotype owl:Class GO:0002280 biolink:NamedThing monocyte activation involved in immune response The change in morphology and behavior of a monocyte resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpxe7fu0cj_hp_relaxed.owl monocyte activation during immune response biological_process owl:Class GO:0022410 biolink:NamedThing circadian sleep/wake cycle process A behavioral process involved in the cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0006464 biolink:NamedThing cellular protein modification process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). tmpxe7fu0cj_hp_relaxed.owl process resulting in protein modification|protein modification process|protein tagging activity biological_process owl:Class UBERON:0003506 biolink:NamedThing chest blood vessel A blood vessel that is part of a chest [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl anterior thoracic region blood vessel|front of thorax blood vessel|anterolateral part of thorax blood vessel|blood vessel of anterolateral part of thorax|blood vessel of chest|blood vessel of anterior thoracic region|blood vessel of front of thorax MA:0000549|EMAPA:37239 uberon owl:Class GO:0060421 biolink:NamedThing positive regulation of heart growth Any process that increases the rate or extent of heart growth. Heart growth is the increase in size or mass of the heart. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009973 biolink:NamedThing Complete duplication of the phalanges of the 4th finger A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the bones of the ring finger UMLS:C4024135 doelkens 2009-05-26T02:20:08Z human_phenotype owl:Class HP:0011762 biolink:NamedThing Pituitary thyrotropic cell adenoma A type of pituitary adenoma that produces thyroid stimulating hormone (TSH). tmpxe7fu0cj_hp_relaxed.owl Pituitary thyrotropinoma UMLS:C4021121 peter 2012-04-22T03:42:08Z human_phenotype owl:Class CL:1000482 biolink:NamedThing myocardial endocrine cell of interventricular septum A myocardial endocrine cell that is part of the interventricular septum. tmpxe7fu0cj_hp_relaxed.owl FMA:83390 cell owl:Class HP:0030615 biolink:NamedThing Foveal photoreceptor outer segment loss on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073085 owl:Class HP:0001098 biolink:NamedThing Abnormal fundus morphology Any structural abnormality of the fundus of the eye. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the fundus UMLS:C4025804 human_phenotype owl:Class HP:0012723 biolink:NamedThing Sinoatrial block Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0037188|MSH:D012848|SNOMEDCT_US:65778007|Fyler:7014 Sinoatrial block is characterized by a delayed in heartbeat and pauses between P waves as demonstrated by electrocardiography. peter 2014-03-23T01:34:01Z human_phenotype owl:Class HP:0200151 biolink:NamedThing Cutaneous mastocytosis Multifocal dense infiltrates of mast cells in cutaneous tissue. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:397012002|MSH:D034701|UMLS:C1136033|SNOMEDCT_US:703827008 sebastiankohler 2013-06-14T09:22:02Z human_phenotype owl:Class HP:0006089 biolink:NamedThing Palmar hyperhidrosis tmpxe7fu0cj_hp_relaxed.owl Excessive sweating of hands UMLS:C1856953 human_phenotype owl:Class HP:0006790 biolink:NamedThing Cerebral cortex with spongiform changes tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857934 owl:Class HP:0003155 biolink:NamedThing Elevated circulating alkaline phosphatase concentration Abnormally increased serum levels of alkaline phosphatase activity. tmpxe7fu0cj_hp_relaxed.owl Increased serum alkaline phosphatase|Increased alkaline phosphatase|Elevated ALP|Elevated alkaline phosphatase|Hyperphosphatasemia|High serum alkaline phosphatase|Hyperphosphatasia|Greatly elevated alkaline phosphatase UMLS:C0750857 HP:0003636|HP:0008296|HP:0002911 owl:Class HP:0006755 biolink:NamedThing Cutaneous leiomyosarcoma The presence of leiomyosarcoma of the skin. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:254771006|UMLS:C0346067|NCIT:C3158 human_phenotype owl:Class CHEBI:27150 biolink:NamedThing trisaccharide tmpxe7fu0cj_hp_relaxed.owl trisaccharides Wikipedia:Trisaccharide chebi_ontology owl:Class CHEBI:50699 biolink:NamedThing oligosaccharide A compound in which monosaccharide units are joined by glycosidic linkages. The term is commonly used to refer to a defined structure as opposed to a polymer of unspecified length or a homologous mixture. When the linkages are of other types the compounds are regarded as oligosaccharide analogues. tmpxe7fu0cj_hp_relaxed.owl oligosaccharides|O-glycosylglycosides|oligosacarido|oligosacaridos|O-glycosylglycoside|Oligosaccharide KEGG:C00930 CHEBI:35319|CHEBI:25679|CHEBI:7758 chebi_ontology owl:Class GO:2000647 biolink:NamedThing negative regulation of stem cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of stem cell proliferation. tmpxe7fu0cj_hp_relaxed.owl dph 2011-04-27T01:04:22Z biological_process owl:Class HP:0033259 biolink:NamedThing Non-motor seizure A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 14:43:08+00:00 This term may be used to code the non-motor seizures of a person who cannot confirm or exclude subjective seizure experiences that would aid more detailed classification as a generalized non-motor (absence) seizure or type of focal non-motor seizure. peter owl:Class HP:0010694 biolink:NamedThing Lamellar pulverulent cataract A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023735 Opacities located in the perinuclear (lamellar) zones of the lens. peter 2010-03-20T11:43:14Z human_phenotype owl:Class HP:0007971 biolink:NamedThing Lamellar cataract A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:204128001|SNOMEDCT_US:21590003|UMLS:C0266537 human_phenotype owl:Class GO:2000977 biolink:NamedThing regulation of forebrain neuron differentiation Any process that modulates the frequency, rate or extent of forebrain neuron differentiation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-08-03T12:09:12Z biological_process owl:Class HP:0010587 biolink:NamedThing Triangular epiphyses tmpxe7fu0cj_hp_relaxed.owl Triangular end part of bone UMLS:C4023784 sandra1 2009-10-22T02:53:19Z human_phenotype owl:Class HP:0012208 biolink:NamedThing Immotile sperm A lack of mobility of ejaculated sperm. tmpxe7fu0cj_hp_relaxed.owl Nonmotile sperm UMLS:C4023001 peter 2013-03-12T12:24:28Z owl:Class GO:1904480 biolink:NamedThing positive regulation of intestinal absorption Any process that activates or increases the frequency, rate or extent of intestinal absorption. tmpxe7fu0cj_hp_relaxed.owl up regulation of intestinal absorption|up-regulation of intestinal absorption|upregulation of intestinal absorption|activation of intestinal absorption rl 2015-07-13T15:59:00Z biological_process owl:Class HP:0009416 biolink:NamedThing Ivory epiphyses of the 3rd finger Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the middle finger bone UMLS:C4024377 doelkens 2009-01-14T02:01:59Z human_phenotype owl:Class HP:0001305 biolink:NamedThing Dandy-Walker malformation A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. tmpxe7fu0cj_hp_relaxed.owl Dandy-Walker cyst|Dandy-walker anomaly UMLS:C0010964|SNOMEDCT_US:14447001|MSH:D003616 HP:0006809|HP:0001313 owl:Class UBERON:0013683 biolink:NamedThing left dorsal thalamus A dorsal thalamus that is in_the_left_side_of a diencephalon. tmpxe7fu0cj_hp_relaxed.owl left thalamus FMA:258716 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0004703 biolink:NamedThing dorsal thalamus tmpxe7fu0cj_hp_relaxed.owl dorsal thalamus (Anthoney)|dorsal thalamus|dorsal tier of thalamus|thalamus, pars dorsalis|thalamus dorsalis|thalamus proper ncithesaurus:Dorsal_Thalamus|ZFA:0000653|BM:Die-Th|BAMS:Dorsal_thalamus|MA:0000180|PBA:128013018|DMBA:16396|HBA:4393|EMAPA:35295|BAMS:DOR|TAO:0000653|EHDAA2:0000692|DHBA:10391|FMA:62007 TODO. http://www.ncbi.nlm.nih.gov/pubmed/8167659 uberon owl:Class HP:0010158 biolink:NamedThing Stippling of the epiphysis of the 1st metatarsal tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the 1st long bone of foot UMLS:C4024001 doelkens 2009-05-29T01:24:17Z human_phenotype owl:Class HP:0012185 biolink:NamedThing Constrictive median neuropathy Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. tmpxe7fu0cj_hp_relaxed.owl Carpal tunnel syndrome UMLS:C4023009 Constrictive median neuropathy is the major clinical feature of carpal tunnel syndrome. peter 2013-02-24T09:24:32Z human_phenotype owl:Class HP:0012181 biolink:NamedThing Entrapment neuropathy Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1510429|SNOMEDCT_US:45781009|MSH:D009408 An entrapment neuropathy is an isolated peripheral nerve injury due to mechanical contriction in a fibrous or fibro-osseous tunnel or to deformation of the nerve by a fibrous band. peter 2013-02-23T10:20:59Z human_phenotype owl:Class HP:5000015 biolink:NamedThing Anti-Homer-3 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3. tmpxe7fu0cj_hp_relaxed.owl Anti-Homer protein homolog 3 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0009393 biolink:NamedThing Absent epiphyses of the 4th finger Absence of one or more epiphyses of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Absent end part of the ring finger bone UMLS:C4024397 doelkens 2009-01-13T01:59:12Z human_phenotype owl:Class HP:0100400 biolink:NamedThing Duplication of the distal phalanx of the 5th toe Partial or complete duplication of the distal phalanx of little toe. tmpxe7fu0cj_hp_relaxed.owl Duplication of the distal phalanx of the fifth toe|Partial/complete duplication of the distal phalanx of the 5th toe|Duplication of the outermost bone of the pinkie toe|Duplication of the outermost bone of the little toe|Duplication of the outermost bone of the fifth toe|Duplication of the outermost bone of the pinky toe UMLS:C4020997 human_phenotype owl:Class HP:0008453 biolink:NamedThing Congenital kyphoscoliosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C0345392|SNOMEDCT_US:405772002 human_phenotype owl:Class UBERON:0011107 biolink:NamedThing synovial joint of pelvic girdle A synovial joint that is part of a pelvic girdle region. tmpxe7fu0cj_hp_relaxed.owl pelvic girdle joint|joint of pelvic girdle FMA:35173|UMLS:C0827002|NCIT:C32890 uberon owl:Class HP:0009909 biolink:NamedThing Uplifted earlobe An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly. tmpxe7fu0cj_hp_relaxed.owl Fleshy upturned lobules|Upturned earlobe|Upturned earlobes|Uplifted earlobes|Lobe, uplifted|Uplifted earlobe UMLS:C1856117 This finding is characteristic of Mowat-Wilson syndrome. peter 2009-05-01T03:02:07Z HP:0009764 owl:Class HP:0000363 biolink:NamedThing Abnormal earlobe morphology An abnormality of the lobule of pinna. tmpxe7fu0cj_hp_relaxed.owl Abnormal lobe of ear|Abnormality of auricular lobule|Abnormality of earlobe|Abnormal earlobe|Abnormality of lobulus auriculae|Abnormality of ear lobe UMLS:C4021808 owl:Class GO:1902866 biolink:NamedThing regulation of retina development in camera-type eye Any process that modulates the frequency, rate or extent of retina development in camera-type eye. tmpxe7fu0cj_hp_relaxed.owl regulation of retina development in camera-style eye|regulation of retinal development mr 2014-04-03T15:24:17Z biological_process owl:Class HP:0010288 biolink:NamedThing Abnormality of the sublingual glands Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023919 peter 2009-07-12T10:42:35Z human_phenotype owl:Class HP:0410277 biolink:NamedThing Sternal pit A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum. tmpxe7fu0cj_hp_relaxed.owl 2018-10-30 18:23:42+00:00 owl:Class HP:0006000 biolink:NamedThing Ureteral obstruction Obstruction of the flow of urine through the ureter. tmpxe7fu0cj_hp_relaxed.owl Fyler:4492|MSH:D014517|SNOMEDCT_US:20018005|UMLS:C0041956 human_phenotype owl:Class HP:0003417 biolink:NamedThing Coronal cleft vertebrae Frontal schisis (cleft or cleavage) of vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl Coronal vertebral clefts|coronal cleft of vertebrae|Coronal clefts|Vertebral coronal clefts UMLS:C1834954 Coronal cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed. HP:0003673 human_phenotype owl:Class HP:0008428 biolink:NamedThing Vertebral clefting Schisis (cleft or cleavage) of vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl Vertebral clefts UMLS:C1855828 Cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed. HP:0000942 human_phenotype owl:Class CHEBI:17608 biolink:NamedThing D-aldohexose Any D-aldose having a chain of six carbon atoms in the molecule. tmpxe7fu0cj_hp_relaxed.owl D-aldohexoses 0 C6H12O6 180.156 180.06339 CHEBI:12990|CHEBI:21038 chebi_ontology owl:Class HP:0009548 biolink:NamedThing Bullet-shaped phalanges of the 2nd finger A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped index finger bones UMLS:C4024300 doelkens 2009-01-21T10:20:26Z human_phenotype owl:Class GO:0035855 biolink:NamedThing megakaryocyte development The process whose specific outcome is the progression of a megakaryocyte cell over time, from its formation to the mature structure. Megakaryocyte development does not include the steps involved in committing a cell to a megakaryocyte fate. A megakaryocyte is a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl megakaryocyte cell development bf 2011-05-13T01:28:06Z biological_process owl:Class GO:0098751 biolink:NamedThing bone cell development The process whose specific outcome is the progression of a bone cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. tmpxe7fu0cj_hp_relaxed.owl Not to be used for manual annotation. Please choose a more specific cell development term or if not possible, bone or bone tissue development. biological_process owl:Class HP:0040210 biolink:NamedThing Abnormal circulating biopterin concentration A deviation from the normal concentration of biopterin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073158 HPO:skoehler owl:Class HP:0200107 biolink:NamedThing Shortened inner dynein arms tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021890 sebastiankohler 2013-06-05T12:14:49Z human_phenotype owl:Class HP:0025718 biolink:NamedThing Skeletal muscle hyperechogenicity An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation. tmpxe7fu0cj_hp_relaxed.owl Muscle ultrasound hyperechogenicity|Hyperechoic muscle peterrobinson owl:Class HP:0032388 biolink:NamedThing Periventricular nodular heterotopia Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 15:59:43+00:00 peter owl:Class HP:0007165 biolink:NamedThing Periventricular heterotopia A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. tmpxe7fu0cj_hp_relaxed.owl Periventricular neuronal heterotopia|Periventricular grey matter heterotopia|Subependymal neuronal heterotopia|Subependymal grey matter heterotopia|Subependymal gray matter heterotopia|Periventricular gray matter heterotopia UMLS:C1849173 Periventricular gray matter heterotopia can be seen for example in patients with Smith-Lemli-Opitz-Syndrome. HP:0002272 human_phenotype owl:Class CL:0000799 biolink:NamedThing immature gamma-delta T cell A gamma-delta T cell that has an immature phenotype. tmpxe7fu0cj_hp_relaxed.owl immature gamma-delta T-cell|immature gamma-delta T-lymphocyte|immature gamma-delta T lymphocyte Note that gamma-delta T cells have both thymic and extrathymic differentiation pathways. cell owl:Class UBERON:0032748 biolink:NamedThing sacral spinal cord ventral horn tmpxe7fu0cj_hp_relaxed.owl sacral spinal cord ventral horn|sacral spinal cord anterior horn BIRNLEX:1457 uberon owl:Class CHEBI:51721 biolink:NamedThing alpha,beta-unsaturated ketone A ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) or R(1)C#C-C(=O)R(2) (R(2) =/= H) in which the ketonic C=O function is conjugated to an unsaturated C-C bond at the alpha,beta position. tmpxe7fu0cj_hp_relaxed.owl alpha,beta-unsaturated ketones chebi_ontology owl:Class HP:0010366 biolink:NamedThing Triangular shaped phalanges of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Triangular shaped 3rd toe bones UMLS:C4023879 doelkens 2009-07-16T11:51:17Z human_phenotype owl:Class HP:0011018 biolink:NamedThing Abnormality of the cell cycle An abnormality of the cell cycle. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the cell cycle UMLS:C4023594 peter 2011-02-22T07:09:31Z human_phenotype owl:Class UBERON:0010707 biolink:NamedThing appendage girdle complex An organism subdivision that includes both an appendage and its associated girdle region. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). tmpxe7fu0cj_hp_relaxed.owl girdle plus limb or fin|appendage/girdle complex|appendage complex|limb|appendage-girdle complex EMAPA:37858|VSAO:0000214|FMA:7182 haendel 2012-04-23T10:46:51Z It is still called a complex when one of the two parts is missing (?) There are fossil fishes with only an outgrowth (no record of a girdle), including thelodonts (which have a suprabranchial fin) as well as some anaspids which have a distinctive 'paired fin' (with differing published assertions on whether it's homologous to a pec fin or pelvic fin or both or neither). There are many fishes and other vertebrates with only a girdle and no outgrowth.[VSAO] uberon owl:Class Anatomical group that consists of the soft and skeletal tissues of the appendicular region of the body and the appendage proper.[VSAO] It is still called a complex when one of the two parts is missing (?) There are fossil fishes with only an outgrowth (no record of a girdle), including thelodonts (which have a suprabranchial fin) as well as some anaspids which have a distinctive 'paired fin' (with differing published assertions on whether it's homologous to a pec fin or pelvic fin or both or neither). There are many fishes and other vertebrates with only a girdle and no outgrowth.[VSAO] note that the FMA uses the term 'limb' to refer to the entire appendage complex (free limb plus girdle region) MPATH:502 biolink:NamedThing monocytic leukaemia Leukaemia in which neoplastic cells are poorly or moderately differentiated with a monocytic but no neutrophilic component. At least 20% of the cells must be blasts. tmpxe7fu0cj_hp_relaxed.owl URL:http://www.bloodjournal.org/cgi/content/full/100/1/238/DC1/2 mouse_pathology.ontology owl:Class HP:0007962 biolink:NamedThing Speckled corneal dystrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021857 human_phenotype owl:Class HP:0001131 biolink:NamedThing Corneal dystrophy An abnormality of the cornea that is characterized by opacity of one or parts of the cornea. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0010036|SNOMEDCT_US:5587004 HP:0007775 human_phenotype owl:Class HP:0020200 biolink:NamedThing Increased circulating 18-hydroxycortisone level An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-09-05 14:22:21+00:00 owl:Class HP:0020198 biolink:NamedThing Abnormal circulating 18-hydroxycorticosterone level Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-09-05 14:20:11+00:00 owl:Class HP:0007166 biolink:NamedThing Paroxysmal dyskinesia Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. tmpxe7fu0cj_hp_relaxed.owl Involuntary dystonic or choreiform movements MSH:D002819|UMLS:C0752210|UMLS:C1836174 owl:Class HP:0041198 biolink:NamedThing Fractured proximal epiphysis of middle phalanx of manual digit 3 A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3. tmpxe7fu0cj_hp_relaxed.owl bone proximal epiphysis of middle phalanx of manual digit 3 owl:Class HP:0100550 biolink:NamedThing Tendon rupture Breakage (tear) of a tendon. tmpxe7fu0cj_hp_relaxed.owl Tendon/muscle rupture|Tendon rupture|Ruptured tendon|Rupture of tendons SNOMEDCT_US:415749005|UMLS:C0151937 Tendon rupture is usually painful,and accompanied by swelling, inability to move, and bunching up of the muscle normally attached to the tendon. doelkens 2010-12-21T02:58:13Z human_phenotype owl:Class UBERON:0011275 biolink:NamedThing nail of manual digit 3 A nail that is part of a manual digit 3. tmpxe7fu0cj_hp_relaxed.owl nail of third finger|middle finger nail|nail plate of middle finger|nail of manual digit III|claw of digit 3 of fore-paw|nail of middle finger EMAPA:18736|FMA:54335 uberon owl:Class HP:0012838 biolink:NamedThing Localized Being confined or restricted to a particular location. tmpxe7fu0cj_hp_relaxed.owl Localised|Localized UMLS:C0392752|SNOMEDCT_US:255471002 PATO:0000627. peter 2014-06-06T07:27:48Z human_phenotype owl:Class UBERON:0013754 biolink:NamedThing integumentary system layer An organ component layer that is part of a integumental system. tmpxe7fu0cj_hp_relaxed.owl skin layer|layer of skin SCTID:314820002 uberon owl:Class UBERON:0010679 biolink:NamedThing manual digit 5 phalanx cartilage element A cartilage element that is part of a manual digit 5 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl hand digit 5 phalanx cartilage element|manual digit V phalanx cartilage element|fore limb digit 5 phalanx cartilage condensation EMAPA:18086 uberon owl:Class HP:0001714 biolink:NamedThing Ventricular hypertrophy Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0340279|SNOMEDCT_US:266249003 HP:0005167 human_phenotype owl:Class HP:0012812 biolink:NamedThing Fullness of paranasal tissue Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues. tmpxe7fu0cj_hp_relaxed.owl Hypertrophy of paranasal tissue|Laterally built up nose|Fullness of tissue around the nose|Paranasal fullness|Hyperplasia of paranasal tissue|Thick paranasal tissue|Thick tissue around the nose UMLS:C4280308|UMLS:C4021065|UMLS:C4280309 This feature is distinct from Wide nasal ridge and Wide nasal bridge. hecht 2014-05-25T10:40:06Z human_phenotype owl:Class HP:0012431 biolink:NamedThing Episodic fatigue Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022907 peter 2013-11-13T07:45:40Z owl:Class HP:0012378 biolink:NamedThing Fatigue A subjective feeling of tiredness characterized by a lack of energy and motivation. tmpxe7fu0cj_hp_relaxed.owl Tired|Fatigue|Tiredness SNOMEDCT_US:248274002|MSH:D005221|UMLS:C0015672|SNOMEDCT_US:84229001 Fatigue is distinct from muscle weakness. peter 2013-10-15T08:52:04Z owl:Class HP:0012593 biolink:NamedThing Nephrotic range proteinuria Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0445118|SNOMEDCT_US:264867001 peter 2014-01-16T05:50:21Z owl:Class HP:0000093 biolink:NamedThing Proteinuria Increased levels of protein in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine protein levels|Protein in urine SNOMEDCT_US:29738008|UMLS:C0033687|MSH:D011507 owl:Class PATO:0002118 biolink:NamedThing multiple A quality inhering in a bearer by virtue of the bearer's being present in more than two copies. tmpxe7fu0cj_hp_relaxed.owl 2009-10-06T03:28:38Z quality owl:Class HP:0025293 biolink:NamedThing Distributed along Blaschko lines Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body. tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 16:16:24+00:00 HPO:probinson owl:Class HP:0032855 biolink:NamedThing Photosensitive myoclonic-tonic-clonic seizure Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light. tmpxe7fu0cj_hp_relaxed.owl Photically induced myoclonic-tonic-clonic seizure peter owl:Class HP:0032795 biolink:NamedThing Generalized myoclonic-tonic-clonic seizure A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. tmpxe7fu0cj_hp_relaxed.owl generalized onset myoclonic-tonic-clonic seizure|Generalised onset myoclonic-tonic-clonic seizure|generalised onset myoclonic-tonic-clonic seizure|Generalised myoclonic-tonic-clonic seizure|Generalised-onset myoclonic-tonic-clonic seizure|Generalized-onset myoclonic-tonic-clonic seizure peter owl:Class HP:0002277 biolink:NamedThing Horner syndrome An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection. tmpxe7fu0cj_hp_relaxed.owl Horner's syndrome|Oculosympathetic palsy MSH:D006732|SNOMEDCT_US:12731000|SNOMEDCT_US:192915005|UMLS:C0019937|SNOMEDCT_US:271730003 Ptosis, miosis, and occasionally apparent enophthalmos and anhidrosis on one side of the face, loss of ciliospinal reflex and blood shot conjunctiva. HP:0000596 human_phenotype owl:Class HP:0000616 biolink:NamedThing Miosis Abnormal (non-physiological) constriction of the pupil. tmpxe7fu0cj_hp_relaxed.owl Constricted pupils|Pupillary constriction MSH:D015877|UMLS:C0026205|SNOMEDCT_US:63251006 human_phenotype owl:Class HP:0010548 biolink:NamedThing Percussion myotonia A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). tmpxe7fu0cj_hp_relaxed.owl Transient swelling of muscle induced by percussion MSH:D009222|UMLS:C0751359 peter 2009-10-01T08:15:50Z HP:0004304 human_phenotype owl:Class UBERON:0011769 biolink:NamedThing cartilaginous projection Anatomical projection that is composed of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl cartilage process|cartilaginous process FMA:284626 uberon owl:Class GO:0043471 biolink:NamedThing regulation of cellular carbohydrate catabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0043470 biolink:NamedThing regulation of carbohydrate catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of carbohydrates. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0031016 biolink:NamedThing Alternating radiolucent and radiodense metaphyseal lines Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra. tmpxe7fu0cj_hp_relaxed.owl Zebra stripe sign 2017-05-20 11:32:22+00:00 In cases where this sign arises in children treated with bisphosphonates, the sign is known as the zebra stripe sign, which is radiological manifestation of cyclical bisphosphonate therapy prior to closure of epiphyseal growth plates. peter owl:Class HP:0032566 biolink:NamedThing Oval macrocytosis Enlarged, oval-shaped erythrocytes (red blood cells). tmpxe7fu0cj_hp_relaxed.owl 2019-06-19 10:24:42+00:00 See Figure 1 of PMID:19202968. peter owl:Class HP:0003999 biolink:NamedThing Abnormality of radial epiphyses tmpxe7fu0cj_hp_relaxed.owl Abnormality of radial epiphyseal plates UMLS:C4021694 HP:0004011 human_phenotype owl:Class UBERON:0016570 biolink:NamedThing lamina of gray matter of spinal cord tmpxe7fu0cj_hp_relaxed.owl rexed lamina http://neurolex.org/wiki/Category:Rexed_spinal_cord_parcellation_scheme_region|FMA:68861|Wikipedia:Rexed_laminae uberon owl:Class HP:0410344 biolink:NamedThing Shortened O-fucosylated glycan on properdin Decreased length of O-fucosylated glycans present on properdin. tmpxe7fu0cj_hp_relaxed.owl Presence of terminal O-fucose glycans on properdin owl:Class GO:0090330 biolink:NamedThing regulation of platelet aggregation Any process that modulates the rate, frequency or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules. tmpxe7fu0cj_hp_relaxed.owl tb 2010-05-14T10:46:08Z biological_process owl:Class HP:0009117 biolink:NamedThing Aplasia/Hypoplasia of the maxilla Absence or underdevelopment of the maxilla. tmpxe7fu0cj_hp_relaxed.owl Underdevelopment of maxilla|Underdevelopment of upper jaw bones UMLS:C4024590 peter 2008-04-05T10:57:00Z human_phenotype owl:Class UBERON:0035112 biolink:NamedThing intrinsic muscle Any of the muscles that are entirely within the body part or segment moved by them. tmpxe7fu0cj_hp_relaxed.owl ideally we would like to classify under this class automatically but this is difficult to do without applying external rules. Note that logical definitions that use this class as a genus may not be strictly correct uberon owl:Class HP:0007677 biolink:NamedThing Vitelliform-like macular lesions Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula. tmpxe7fu0cj_hp_relaxed.owl Vitelliform macular dystrophy|Vitelliform macular lesions UMLS:C0339510|MSH:D057826|SNOMEDCT_US:90036004|UMLS:C4024817 HP:0007878 human_phenotype owl:Class HP:0100879 biolink:NamedThing Enlarged ovaries tmpxe7fu0cj_hp_relaxed.owl Enlarged ovaries UMLS:C0392039|SNOMEDCT_US:66998000 doelkens 2011-12-01T02:33:12Z human_phenotype owl:Class HP:0002247 biolink:NamedThing Duodenal atresia A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. tmpxe7fu0cj_hp_relaxed.owl Absence or narrowing of first part of small bowel SNOMEDCT_US:51118003|Fyler:4406|UMLS:C0266174|MEDDRA:10013812|MSH:C535720 human_phenotype owl:Class HP:0011100 biolink:NamedThing Intestinal atresia An abnormal closure, or atresia of the tubular structure of the intestine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0021828|MSH:D007409 Intestinal atresia is a broad term used to describe a complete blockage or obstruction anywhere in the intestine, in contrast to stenosis, which refers to a partial obstruction that results in a narrowing of the intestinal lumen. peter 2011-06-04T09:16:25Z human_phenotype owl:Class HP:0005632 biolink:NamedThing Absent forearm tmpxe7fu0cj_hp_relaxed.owl Absent forearm|Absent forearms UMLS:C1408532 human_phenotype owl:Class HP:0008823 biolink:NamedThing Hypoplastic inferior pubic rami tmpxe7fu0cj_hp_relaxed.owl UMLS:C1853573 human_phenotype owl:Class HP:0003173 biolink:NamedThing Hypoplastic pubic bone Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic pubis|Hypoplastic pubic bones UMLS:C1865030 human_phenotype owl:Class CHEBI:36520 biolink:NamedThing oligoglycosylceramide tmpxe7fu0cj_hp_relaxed.owl CHEBI:25672|CHEBI:24253 chebi_ontology owl:Class UBERON:0007692 biolink:NamedThing nucleus of thalamus A nucleus of brain that is part of a thalamus. tmpxe7fu0cj_hp_relaxed.owl nuclear complex of thalamus|thalamic nucleus MA:0002992|FMA:256693|EMAPA:35859|BTO:0002452 TODO - consider splitting nucleus and complex uberon owl:Class UBERON:0006569 biolink:NamedThing diencephalic nucleus A nucleus of brain that is part of a diencephalon. tmpxe7fu0cj_hp_relaxed.owl ZFA:0001659|TAO:0002191 uberon owl:Class GO:0055022 biolink:NamedThing negative regulation of cardiac muscle tissue growth Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle growth. tmpxe7fu0cj_hp_relaxed.owl negative regulation of heart muscle growth|down regulation of cardiac muscle growth|inhibition of cardiac muscle growth|down-regulation of cardiac muscle growth|downregulation of cardiac muscle growth biological_process owl:Class HP:0033780 biolink:NamedThing Bulbous tooth A tooth crown with a marked cervical area constriction. tmpxe7fu0cj_hp_relaxed.owl 2021-05-07 10:09:42+00:00 peter owl:Class HP:0025333 biolink:NamedThing Cortical thinning of foot bones A reduction in the thickness of the outer shell (cortex) of foot bones. tmpxe7fu0cj_hp_relaxed.owl 2017-02-11 12:10:34+00:00 HPO:probinson owl:Class HP:0025332 biolink:NamedThing Abnormality of foot cortical bone An anomaly of the outer shell (cortex) of a foot bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the cortex of foot bones 2017-02-11 12:09:16+00:00 HPO:probinson owl:Class UBERON:0005153 biolink:NamedThing epithelial bud A bud is a protrusion that forms from an epithelial sheet by localized folding. tmpxe7fu0cj_hp_relaxed.owl BTO:0001639 uberon owl:Class HP:0011391 biolink:NamedThing Morphological abnormality of the nerves of the inner ear tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023380 hecht 2012-03-09T05:03:30Z human_phenotype owl:Class GO:0072698 biolink:NamedThing protein localization to microtubule cytoskeleton A cellular protein localization process in which a protein is transported to, or maintained at, a location within the microtubule cytoskeleton. tmpxe7fu0cj_hp_relaxed.owl protein localisation to microtubule cytoskeleton mah 2012-04-11T01:19:35Z biological_process owl:Class GO:0010646 biolink:NamedThing regulation of cell communication Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0004931 biolink:NamedThing submucosa of descending colon A submucosa that is part of a descending colon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl descending colon submucosa FMA:15020 uberon owl:Class HP:0030006 biolink:NamedThing Single fiber EMG abnormality Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers. tmpxe7fu0cj_hp_relaxed.owl Single fibre EMG abnormality UMLS:C4022679 owl:Class PR:000001006 biolink:NamedThing receptor-type tyrosine-protein phosphatase C A protein that is a translation product of the human PTPRC gene or a 1:1 ortholog thereof. It is composed of an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic protein-tyrosine phosphatase domains. Contains 1 to 3 copies of the Fibronectin type III domain (Pfam:PF00041) followed by two copies of the Protein-tyrosine phosphatase (Pfam:PF00102) domain. Receptor-type tyrosine-protein phosphatase C (CD45) regulates signal transduction and lymphocyte activation by specific association with receptor molecules on T and B cells. Multiple isoforms of CD45 (180-235 kDa) can be generated asa result of alternative splicing of three variable exons 4(A), 5(B) and 6(C), encoding sequences at the N-terminal extracellular domain of the molecule. tmpxe7fu0cj_hp_relaxed.owl T200|CD45|leukocyte common antigen|PTPRC|L-CA|ly-5|lymphocyte antigen 5 IUPHARobj:1852|PIRSF:PIRSF002004 Category=gene. Requested by=CL. protein owl:Class HP:0002200 biolink:NamedThing Pseudobulbar signs Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. tmpxe7fu0cj_hp_relaxed.owl Pseudobulbar symptoms UMLS:C1838579 human_phenotype owl:Class UBERON:0012490 biolink:NamedThing muscle layer of anal canal A muscular coat that is part of a anal canal. tmpxe7fu0cj_hp_relaxed.owl anal canal muscularis propria|muscular layer of anal canal|muscularis externa of anal canal|muscular coat of anal canal|anal muscularis propria|muscularis propria of anal canal FMA:15708 uberon owl:Class OBO:CARO_0000006 biolink:NamedThing material anatomical entity tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0021575 biolink:NamedThing hindbrain morphogenesis The process in which the anatomical structure of the hindbrain is generated and organized. The hindbrain is the region consisting of the medulla, pons and cerebellum. Areas of the hindbrain control motor and autonomic functions. tmpxe7fu0cj_hp_relaxed.owl rhombencephalon morphogenesis biological_process owl:Class HP:0004947 biolink:NamedThing Arteriovenous fistula An abnormal connection between an artery and vein. tmpxe7fu0cj_hp_relaxed.owl Arteriovenous fistulas MSH:D001164|UMLS:C0003855|SNOMEDCT_US:439470001|SNOMEDCT_US:128617001 HP:0004946 human_phenotype owl:Class HP:0033774 biolink:NamedThing Impaired renal tubular reabsorption of uric acid Decreased renal tubular reabsorption of uric acid. tmpxe7fu0cj_hp_relaxed.owl 2021-05-04 14:21:45+00:00 Uric acid excretion rate is the product of the filtered load (which can be approximated as plasma ultrafilterable urate multiplied by tge glomerular filtration rate) and fractional excretion of urate (FEUA), which represents the percentage of filtered urate that is excreted in the final urine. peter owl:Class HP:0011038 biolink:NamedThing Abnormal renal resorption An abnormality of renal absorption. tmpxe7fu0cj_hp_relaxed.owl Abnormality of renal resorption UMLS:C4023578 peter 2011-03-06T12:38:04Z owl:Class HP:0006999 biolink:NamedThing Basal ganglia gliosis Focal proliferation of glial cells in the basal ganglia. tmpxe7fu0cj_hp_relaxed.owl Gliosis in the basal ganglia UMLS:C1864114|UMLS:C2750915 Gliosis refers to a proliferation of astrocytes in an area of damage of nervous tissue. human_phenotype owl:Class GO:1905213 biolink:NamedThing negative regulation of mitotic chromosome condensation Any process that stops, prevents or reduces the frequency, rate or extent of mitotic chromosome condensation. tmpxe7fu0cj_hp_relaxed.owl vw 2016-06-03T08:41:08Z biological_process owl:Class HP:0030442 biolink:NamedThing Anal margin squamous cell carcinoma A squamous cell carcinoma that originates in the skin of the anal margin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1412037|SNOMEDCT_US:255084004 Clinical presentations include pain, bleeding, palpable lump, and discharge. Typically, SCC of the anal margin appears as an ulcerated lesion with rolled everted edges. A significant number of patients are misdiagnosed with an anal fissure, fistula, eczema, or hemorrhoids; therefore a biopsy is recommended for any persistent anal margin lesion not responding to conservative therapy. owl:Class PATO:0001783 biolink:NamedThing decreased intensity An intensity which is relatively low. tmpxe7fu0cj_hp_relaxed.owl low intensity quality owl:Class PATO:0000049 biolink:NamedThing intensity A quality inhering in a bearer by virtue of the bearer's possessing or displaying a distinctive feature in type or degree or effect or force. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0032544 biolink:NamedThing Predominant small joint localization Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck. tmpxe7fu0cj_hp_relaxed.owl 2019-06-12 10:19:53+00:00 peter owl:Class UBERON:0002093 biolink:NamedThing spinal dura mater A dura mater that is part of a spinal cord [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl spinal cord dura mater|dura mater of neuraxis of spinal cord|dura mater of spinal cord|spinal cord dura mater of neuraxis NCIT:C49799|UMLS:C0228124|SCTID:362302001|FMA:71237|VHOG:0000411|EMAPA:17806|MA:0001132 uberon owl:Class The outermost and densest membrane of the three mammalian meninges covering the brain and spinal cord. [Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier, adapted_from_Dorian_AF][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] UBERON:0003292 biolink:NamedThing meninx of spinal cord A meninx that is part of a spinal cord [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl spinal cord meninx|spinal cord meninges|meninges of spinal cord|spinal meninges|spinal meninx|menines of spinal cord SCTID:181097002|EHDAA2:0001895|MA:0001130|UMLS:C0037938|VHOG:0000443|EHDAA:2865|NCIT:C12350|EMAPA:17804|CALOHA:TS-2148 uberon owl:Class Meninges that are part of the spinal cord. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] GO:0010624 biolink:NamedThing regulation of Schwann cell proliferation Any process that modulates the frequency or rate of multiplication or reproduction of Schwann cells, resulting in the expansion of their population. Schwann cells are a type of glial cell in the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0032779 biolink:NamedThing Focal impaired awareness autonomic seizure with pupillary dilation/constriction A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class CHEBI:33408 biolink:NamedThing pnictogen oxoacid tmpxe7fu0cj_hp_relaxed.owl pnictogen oxoacids chebi_ontology owl:Class CHEBI:33302 biolink:NamedThing pnictogen molecular entity A p-block molecular entity containing any pnictogen. tmpxe7fu0cj_hp_relaxed.owl pnictogen molecular entity|pnictogen molecular entities chebi_ontology owl:Class HP:0500092 biolink:NamedThing Orbital rhabdomyosarcoma A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit. tmpxe7fu0cj_hp_relaxed.owl 2018-03-27 15:11:41+00:00 owl:Class UBERON:0004665 biolink:NamedThing muscular coat of seminal vesicle A muscular coat that is part of a seminal vesicle [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscular coat of seminal gland|muscle layer of seminal vesicle|tunica muscularis glandulae vesiculosae|muscular layer of seminal gland|tunica muscularis (vesicula seminalis) EMAPA:29773|FMA:19404|MA:0002913 uberon owl:Class UBERON:0009636 biolink:NamedThing prechordal cartilage Chondrocranium chondrification center that that forms anterior body of sphenoid, containing the sella turcica and posterior body of sphenoid. tmpxe7fu0cj_hp_relaxed.owl classified as part of chondrocranium based on developmental relationships uberon owl:Class HP:0500064 biolink:NamedThing Retinopathy of prematurity threshold A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease. tmpxe7fu0cj_hp_relaxed.owl ROP threshold 2018-02-19 20:26:45+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0100705 biolink:NamedThing Abnormal glial cell morphology An abnormality of the glia cell. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the glial cells UMLS:C4021993 Glia are nonneuronal cells of the nervous system that provide physical support, respond to injury, regulate the composition of the extracellular milieu, guide neuronal migration during development, and exchange metabolites with neurons. doelkens 2011-04-03T02:33:49Z owl:Class GO:0030213 biolink:NamedThing hyaluronan biosynthetic process The chemical reactions and pathways resulting in the formation of hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine. tmpxe7fu0cj_hp_relaxed.owl hyaluronan synthesis|hyaluronan biosynthesis|hyaluronan anabolism|hyaluronan formation biological_process owl:Class GO:0030212 biolink:NamedThing hyaluronan metabolic process The chemical reactions and pathways involving hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine. tmpxe7fu0cj_hp_relaxed.owl hyaluronan metabolism biological_process owl:Class UBERON:0003586 biolink:NamedThing trunk connective tissue A portion of connective tissue that is part of a trunk [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl trunk portion of connective tissue|connective tissue of trunk|connective tissue of torso|portion of connective tissue of torso|portion of connective tissue of trunk|textus connectivus of torso|torso portion of connective tissue|trunk textus connectivus|torso connective tissue|torso textus connectivus|textus connectivus of trunk MA:0000513|EMAPA:37252 uberon owl:Class CHEBI:23965 biolink:NamedThing estradiol A 3-hydroxy steroid that is estra-1,3,5(10)-triene substituted by hydroxy groups at positions 3 and 17. tmpxe7fu0cj_hp_relaxed.owl oestradiol|estra-1,3,5(10)-triene-3,17-diol 0 C18H24O2 InChI=1S/C18H24O2/c1-18-9-8-14-13-5-3-12(19)10-11(13)2-4-15(14)16(18)6-7-17(18)20/h3,5,10,14-17,19-20H,2,4,6-9H2,1H3/t14-,15-,16+,17?,18+/m1/s1 VOXZDWNPVJITMN-WKUFJEKOSA-N 272.38196 272.17763 [H][C@]12CC[C@]3(C)C(O)CC[C@@]3([H])[C@]1([H])CCc1cc(O)ccc21 PMID:10696569|Wikipedia:Estradiol|PMID:24084694 CHEBI:42364 chebi_ontology owl:Class CHEBI:36838 biolink:NamedThing 17-hydroxy steroid A hydroxy steroid carrying a hydroxy group at position 17. tmpxe7fu0cj_hp_relaxed.owl 17-hydroxy steroids chebi_ontology owl:Class HP:0500011 biolink:NamedThing Moon facies A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. tmpxe7fu0cj_hp_relaxed.owl Moon face|Puffy facies|Puffy face Moon facies can occur in persons treated with high-dose corticosteroids or with Cushing disease. owl:Class HP:0008369 biolink:NamedThing Abnormal tarsal ossification An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. tmpxe7fu0cj_hp_relaxed.owl Abnormal maturation of ankle bones|Hardening of ankle bones|Abnormal ossification of tarsal bones UMLS:C4021544|UMLS:C4025075 peter 2008-04-04T11:53:00Z human_phenotype owl:Class UBERON:0001837 biolink:NamedThing duct of salivary gland The duct of a salivary gland. tmpxe7fu0cj_hp_relaxed.owl secretory duct|salivary gland duct|salivary duct GAID:939|MESH:D018987|FMA:59908|NCIT:C32486|MA:0001586|EMAPA:35750|BTO:0005115 uberon owl:Class HP:0031822 biolink:NamedThing Elevated hypoxanthine-guanine phosphoribosyltransferase level Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. tmpxe7fu0cj_hp_relaxed.owl Elevated 6-mercaptopurine phosphoribosyltransferase level|Elevated 6-hydroxypurine phosphoribosyltransferase level|Elevated GMP pyrophosphorylase level 2018-05-01 02:22:05+00:00 peter owl:Class HP:0031821 biolink:NamedThing Abnormal hypoxanthine-guanine phosphoribosyltransferase level Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. tmpxe7fu0cj_hp_relaxed.owl Abnormal GMP pyrophosphorylase level|Abnormal 6-hydroxypurine phosphoribosyltransferase level|Abnormal GPRT level 2018-05-01 02:20:08+00:00 peter owl:Class NCBITaxon:10239 biolink:NamedThing Viruses tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0031455 biolink:NamedThing Presacral ganglioneuroma A gangioleneuroma originating from sympathetic ganglion cells in the abdomen. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 15:53:08+00:00 peter owl:Class HP:0003005 biolink:NamedThing Ganglioneuroma A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:53801007|UMLS:C0017075|SNOMEDCT_US:128919000|SNOMEDCT_US:116371000119107|MSH:D005729 Ganglioneuromas and ganglioneuroblastomas are tumors of the sympathetic nervous system. They originate from neural crest sympathogonia, which are completely undifferentiated cells of the sympathetic nervous system. human_phenotype owl:Class CHEBI:62499 biolink:NamedThing methyl-branched fatty acid Any branched-chain fatty acid containing methyl branches only. tmpxe7fu0cj_hp_relaxed.owl methyl-branched fatty acids PMID:17030019|PMID:19933331|PMID:19747846 chebi_ontology owl:Class HP:0033006 biolink:NamedThing Diffuse alveolar damage Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0015129 biolink:NamedThing epicardial fat Visceral intrapericardial fat contiguous with the myocardial surface. tmpxe7fu0cj_hp_relaxed.owl epicardial adipose tissue|pericardial adipose tissue FMA:9871|SCTID:42267001 uberon owl:Class HP:0040009 biolink:NamedThing Hyperparakeratosis Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:125554003|UMLS:C1265968 HPO:skoehler owl:Class HP:0032417 biolink:NamedThing Periglomerular fibrosis Circumferential fibrosis in the interstitium surrounding Bowman's capsule tmpxe7fu0cj_hp_relaxed.owl Periglomerular fibrotic thickening 2019-02-26 14:20:31+00:00 PMID:32866505 Periglomerular fibrosis is characterized by glomeruli with open capillaries, but lamellated, frequently wrinkled, Bowman capsular basement membrane and circumferential layers of interstitial-type collagen around, within, or between the usually thickened, frequently lamellated, Bowman capsule basement membrane. peter owl:Class GO:1902565 biolink:NamedThing positive regulation of neutrophil activation Any process that activates or increases the frequency, rate or extent of neutrophil activation. tmpxe7fu0cj_hp_relaxed.owl activation of neutrophil activation|up regulation of neutrophil activation|upregulation of neutrophil activation|up-regulation of neutrophil activation ecu 2013-12-10T15:33:26Z biological_process owl:Class GO:1902563 biolink:NamedThing regulation of neutrophil activation Any process that modulates the frequency, rate or extent of neutrophil activation. tmpxe7fu0cj_hp_relaxed.owl ecu 2013-12-10T15:33:08Z biological_process owl:Class HP:0006737 biolink:NamedThing Extraadrenal pheochromocytoma Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia. tmpxe7fu0cj_hp_relaxed.owl Pheochromocytoma, extraadrenal UMLS:C1257877|MSH:D010673 HP:0006764 human_phenotype owl:Class PATO:0002297 biolink:NamedThing decreased cellular motility A cellular motility which is lower relative to the normal or average. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0030138 biolink:NamedThing Excessive bleeding from superficial cuts An abnormally increased degree of bleeding following a superfical injury to the surface of the skin. tmpxe7fu0cj_hp_relaxed.owl Excessive bleeding from superficial cuts UMLS:C4022610 owl:Class HP:0003037 biolink:NamedThing Enlarged joints Increase in size of one or more joints. tmpxe7fu0cj_hp_relaxed.owl Prominent joints|Enlarged joints UMLS:C1859111 human_phenotype owl:Class HP:0410182 biolink:NamedThing Decreased glucose-6-phosphate dehydrogenase level in dried blood spot A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. tmpxe7fu0cj_hp_relaxed.owl Decreased G6PD level in dried blood spot|Decreased glucose-6-phosphate dehydrogenase level in DBS 2018-05-21 17:58:29+00:00 owl:Class GO:1990751 biolink:NamedThing Schwann cell chemotaxis The directed movement of a Schwann cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). tmpxe7fu0cj_hp_relaxed.owl sl 2015-05-21T19:19:09Z biological_process owl:Class HP:0010295 biolink:NamedThing Aplasia/Hypoplasia of the tongue Absence or underdevelopment of the tongue. tmpxe7fu0cj_hp_relaxed.owl Lingual aplasia/hypoplasia UMLS:C4023916|UMLS:C4280384 peter 2009-07-12T11:41:04Z human_phenotype owl:Class HP:0009452 biolink:NamedThing Curved proximal phalanx of the 3rd finger Curved appearance of the proximal phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Curved innermost bone of middle finger UMLS:C4024353 doelkens 2009-01-14T04:33:41Z human_phenotype owl:Class UBERON:0035174 biolink:NamedThing right ear The organ of hearing located on the right side of the head. tmpxe7fu0cj_hp_relaxed.owl FMA:53641|NCIT:C81285 uberon owl:Class HP:0033249 biolink:NamedThing Focal substantia nigra T2 hyperintensity Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging. tmpxe7fu0cj_hp_relaxed.owl Focal substantia nigra T2 hyperintense lesion 2020-11-25 14:16:38+00:00 peter owl:Class HP:0045007 biolink:NamedThing Abnormal substantia nigra morphology A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the substantia nigra UMLS:C4022403 HPO:skoehler owl:Class HP:0032496 biolink:NamedThing Elevated terminal:vellus ratio An increased proportion of terminal hairs compared to vellus hairs. tmpxe7fu0cj_hp_relaxed.owl 2019-04-12 11:35:40+00:00 A terminal:vellus ratio over 7:1 is characteristic of chronic telogen effluvium. peter owl:Class UBERON:0001191 biolink:NamedThing common iliac artery The common iliac arteries are two large arteries, about 4cm long in adults but more than a centimetre in diameter, that originate from the aortic bifurcation. The arteries run inferolaterally, along the medial border of the psoas muscles to the pelvic brim, where they bifurcate into the external iliac artery and internal iliac artery. The common iliac artery, and all of its branches, exist as paired structures (that is to say, there is one on the left side and one on the right). The distribution of the common iliac artery is basically the pelvis and lower limb on the corresponding side. Both common iliac arteries are accompanied along their course by common iliac veins. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl common iliac arterial tree|arteria iliaca communis NCIT:C32357|UMLS:C1261084|EHDAA2:0000311|FMA:14764|EMAPA:17310|MA:0001972|OpenCyc:Mx4rvkZ7ZpwpEbGdrcN5Y29ycA|EHDAA:2553 See notes for parent class http://upload.wikimedia.org/wikipedia/commons/6/6e/Iliac_artery_bifurcation_and_aorta.PNG uberon owl:Class HP:0003423 biolink:NamedThing Thoracolumbar kyphoscoliosis tmpxe7fu0cj_hp_relaxed.owl Dorsolumbar kyphosis UMLS:C1859335 human_phenotype owl:Class CHEBI:63367 biolink:NamedThing monosaccharide derivative A carbohydrate derivative that is formally obtained from a monosaccharide. tmpxe7fu0cj_hp_relaxed.owl monosaccharide derivatives chebi_ontology owl:Class HP:0008316 biolink:NamedThing Abnormal mitochondria in muscle tissue An abnormality of the mitochondria in muscle tissue. tmpxe7fu0cj_hp_relaxed.owl Abnormal mitochondria in muscle UMLS:C4021546 This finding is typically demonstrated by muscle biopsy. human_phenotype owl:Class CHEBI:24712 biolink:NamedThing hydroxymethyl group tmpxe7fu0cj_hp_relaxed.owl hydroxymethyl|serine side-chain|-CH2-OH 0 CH3O 31.03392 31.01839 C(*)O chebi_ontology owl:Class UBERON:0006930 biolink:NamedThing glandular cuboidal epithelium tmpxe7fu0cj_hp_relaxed.owl FMA:66809 uberon owl:Class HP:0002404 biolink:NamedThing Thickened superior cerebellar peduncle Increased width of the superior cerebellar peduncle. tmpxe7fu0cj_hp_relaxed.owl Thick cerebellar peduncles UMLS:C4021756 human_phenotype owl:Class HP:0100580 biolink:NamedThing Barrett esophagus An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system. tmpxe7fu0cj_hp_relaxed.owl Barret syndrome|Barrett's esophagus|Barrett oesophagus|Endobrachyesophagus|Barrett's oesophagus MSH:D001471|UMLS:C0004763|SNOMEDCT_US:302914006 The medical significance of Barrett esophagus is its strong association with esophageal adenocarcinoma, a particularly lethal cancer. doelkens 2010-12-27T01:33:00Z human_phenotype owl:Class HP:0100751 biolink:NamedThing Esophageal neoplasm A tumor (abnormal growth of tissue) of the esophagus. tmpxe7fu0cj_hp_relaxed.owl Esophageal tumor|Esophageal tumour MSH:D004938|UMLS:C0014859|SNOMEDCT_US:126817006|NCIT:C3262 doelkens 2011-06-06T06:44:54Z human_phenotype owl:Class HP:0012277 biolink:NamedThing Hypoglycinemia An abnormally reduced concentration of glycine in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood glycine levels UMLS:C4022973 peter 2013-04-07T03:54:41Z human_phenotype owl:Class HP:0010895 biolink:NamedThing Abnormal circulating glycine concentration Any deviation from the normal concentration of glycine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023670 peter 2010-11-30T05:27:24Z human_phenotype owl:Class HP:0002590 biolink:NamedThing Paralytic ileus tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:55525008|UMLS:C0030446|MSH:D007418 human_phenotype owl:Class HP:0002595 biolink:NamedThing Ileus Acute obstruction of the intestines preventing passage of the contents of the intestines. tmpxe7fu0cj_hp_relaxed.owl Gastrointestinal atony UMLS:C1258215|MEDDRA:10021328|MSH:D045823 human_phenotype owl:Class HP:0030346 biolink:NamedThing Abnormal circulating follicle-stimulating hormone concentration An anomaly of the circulating level of follicle-stimulating hormone (FSH). tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating follicle-stimulating hormone level UMLS:C4072891 owl:Class HP:0030338 biolink:NamedThing Abnormal circulating gonadotropin concentration An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating gonadotropin level UMLS:C4072886 owl:Class HP:0100218 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the middle bone of the pinky toe|Irregular end part of the middle bone of the little toe|Irregular end part of the middle bone of the pinkie toe UMLS:C4022203 doelkens 2010-06-24T05:04:00Z human_phenotype owl:Class HP:0009291 biolink:NamedThing Aplasia of the distal phalanx of the 4th finger Absence of the distal phalanx of the ring (4th) finger. tmpxe7fu0cj_hp_relaxed.owl Absent outermost bone of ring finger UMLS:C4024465 doelkens 2009-01-08T04:00:27Z human_phenotype owl:Class HP:0009289 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the 4th finger tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped outermost ring finger bone|Absent/small outermost ring finger bone UMLS:C4024466 doelkens 2009-01-08T03:59:04Z human_phenotype owl:Class CHEBI:36344 biolink:NamedThing hadron Hadron is a subatomic particle which experiences the strong force. tmpxe7fu0cj_hp_relaxed.owl hadrons chebi_ontology owl:Class GO:0021915 biolink:NamedThing neural tube development The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0045635 biolink:NamedThing negative regulation of melanocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of melanocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl down regulation of melanocyte differentiation|down-regulation of melanocyte differentiation|negative regulation of melanophore differentiation|downregulation of melanocyte differentiation|inhibition of melanocyte differentiation biological_process owl:Class UBERON:0002004 biolink:NamedThing trunk of sciatic nerve tmpxe7fu0cj_hp_relaxed.owl sciatic neural trunk|sciatic nerve trunk MA:0001178|EMAPA:18577|FMA:65507 uberon owl:Class GO:0106014 biolink:NamedThing regulation of inflammatory response to wounding Any process that modulates the frequency, rate or extent of the inflammatory response to wounding. tmpxe7fu0cj_hp_relaxed.owl hjd 2017-04-28T20:03:14Z biological_process owl:Class GO:0050727 biolink:NamedThing regulation of inflammatory response Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class PATO:0000595 biolink:NamedThing increased volume A volume which is relatively high. tmpxe7fu0cj_hp_relaxed.owl high volume|large volume quality owl:Class GO:0060461 biolink:NamedThing right lung morphogenesis The process in which anatomical structures of the right lung are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0009743 biolink:NamedThing response to carbohydrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. tmpxe7fu0cj_hp_relaxed.owl response to carbohydrate stimulus biological_process owl:Class HP:0005626 biolink:NamedThing Posterior fusion of lumbosacral vertebrae Bony fusion of the posterior part of the L5 vertebral body with the sacrum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025169 human_phenotype owl:Class HP:0000670 biolink:NamedThing Carious teeth Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. tmpxe7fu0cj_hp_relaxed.owl Tooth decay|Rotting teeth|Early dental caries|Dental cavities|Frequent caries|Dental decay|Cariosity of teeth|Dental caries|Caries|Tooth cavities UMLS:C0011334|MSH:D003731|SNOMEDCT_US:80967001|UMLS:C4280623 It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution. HP:0006295|HP:0006306 human_phenotype owl:Class HP:0009641 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the thumb tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped outermost thumb bone|Absent/small outermost thumb bone UMLS:C4024261 doelkens 2009-01-29T05:19:33Z human_phenotype owl:Class HP:0031678 biolink:NamedThing Atherosclerotic lesion A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 17:19:49+00:00 peter owl:Class GO:0048667 biolink:NamedThing cell morphogenesis involved in neuron differentiation The process in which the structures of a neuron are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a neuron. tmpxe7fu0cj_hp_relaxed.owl neuron morphogenesis involved in differentiation biological_process owl:Class CHEBI:33837 biolink:NamedThing conjugated protein Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion. tmpxe7fu0cj_hp_relaxed.owl complex protein|conjugated proteins COMe:PRX000001 chebi_ontology owl:Class GO:0007030 biolink:NamedThing Golgi organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus. tmpxe7fu0cj_hp_relaxed.owl Golgi organisation|Golgi organization and biogenesis biological_process owl:Class GO:1905038 biolink:NamedThing regulation of membrane lipid metabolic process Any process that modulates the frequency, rate or extent of membrane lipid metabolic process. tmpxe7fu0cj_hp_relaxed.owl regulation of membrane lipid metabolism tb 2016-03-08T20:41:32Z biological_process owl:Class HP:0033876 biolink:NamedThing Arcuate vein lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. tmpxe7fu0cj_hp_relaxed.owl Cholesterol emboli within arcuate vein lumen 2021-06-23 19:27:11+00:00 peter owl:Class HP:0006426 biolink:NamedThing Rudimentary to absent tibiae tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968943 human_phenotype owl:Class GO:1903380 biolink:NamedThing positive regulation of mitotic chromosome condensation Any process that activates or increases the frequency, rate or extent of mitotic chromosome condensation. tmpxe7fu0cj_hp_relaxed.owl up regulation of mitotic chromosome condensation|up-regulation of mitotic chromosome condensation|upregulation of mitotic chromosome condensation|activation of mitotic chromosome condensation al 2014-08-26T13:57:29Z biological_process owl:Class HP:0032925 biolink:NamedThing Focal impaired awareness sexual automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0005026 biolink:NamedThing mucosa of middle ear A mucosa that is part of a middle ear [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl middle ear mucous membrane|mucosa of tympanic cavity|middle ear organ mucosa|mucous membrane of middle ear|middle ear mucosa of organ|tunica mucosa cavitatis tympanicae|middle ear mucosa|mucosa of organ of middle ear|organ mucosa of middle ear FMA:59663|CALOHA:TS-0631 uberon owl:Class HP:0041232 biolink:NamedThing Fractured skeleton of manual acropodium A partial or complete breakage of the skeleton of manual acropodium. tmpxe7fu0cj_hp_relaxed.owl bone skeleton of manual acropodium owl:Class HP:0012245 biolink:NamedThing Sex reversal Development of the reproductive system is inconsistent with the chromosomal sex. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022995 Sex reversal is present if an XX individual develops phenotypically as a male or if an XY individual develops as a female. peter 2013-04-02T07:04:44Z human_phenotype owl:Class HP:0012244 biolink:NamedThing Abnormal sex determination Anomaly of primary or secondary sexual development or characteristics. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022996 peter 2013-04-02T07:03:45Z owl:Class CHEBI:24864 biolink:NamedThing iodothyronine An iodoamino acid in which the amino acid specified is thyronine. tmpxe7fu0cj_hp_relaxed.owl iodothyronines chebi_ontology owl:Class HP:0032349 biolink:NamedThing Serinuria A increased concentration of serine in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-02-23 16:34:18+00:00 peter owl:Class HP:0033099 biolink:NamedThing Increased serine family amino acid in urine An increased level of a serine family amino acid in the urine. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011940 biolink:NamedThing Anterior wedging of T12 An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front). tmpxe7fu0cj_hp_relaxed.owl Anterior wedging of the 12th thoracic vertebra|Wedge-shaped 12th thoracic vertebra UMLS:C4021108 peter 2012-06-10T06:07:54Z human_phenotype owl:Class HP:0012594 biolink:NamedThing Moderate albuminuria The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol). tmpxe7fu0cj_hp_relaxed.owl High urine albumin levels|Microalbuminuria UMLS:C1654921|UMLS:C0730345|SNOMEDCT_US:312975006 peter 2014-01-16T05:54:41Z owl:Class UBERON:0019255 biolink:NamedThing lower eyelash tmpxe7fu0cj_hp_relaxed.owl lower eyelid eyelash|hair of lower eyelid|lower eyelid cilia|eyelash of lower eyelid|lower eyelid cilium FMA:59409 uberon owl:Class GO:1905294 biolink:NamedThing positive regulation of neural crest cell differentiation Any process that activates or increases the frequency, rate or extent of neural crest cell differentiation. tmpxe7fu0cj_hp_relaxed.owl up regulation of neural crest cell differentiation|up-regulation of neural crest cell differentiation|activation of neural crest cell differentiation|upregulation of neural crest cell differentiation rl 2016-06-28T15:02:16Z biological_process owl:Class HP:0025012 biolink:NamedThing Status cribrosum Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations. tmpxe7fu0cj_hp_relaxed.owl 2016-08-07 23:40:40+00:00 HPO:probinson owl:Class HP:0004097 biolink:NamedThing Deviation of finger Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges. tmpxe7fu0cj_hp_relaxed.owl Atypical position of finger|Finger pointing in a different direction than usual|Deviated fingers SNOMEDCT_US:203556007|UMLS:C0410740|SNOMEDCT_US:26517000 HP:0006229 human_phenotype owl:Class HP:0100250 biolink:NamedThing Meningeal calcification Calcium deposition affecting the Meninges. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022181 In general, meningeal calcifications are plaque-like and bilateral as seen on CT-scans. doelkens 2010-07-14T03:41:34Z human_phenotype owl:Class HP:0033996 biolink:NamedThing Microvillar PAS-positive secretory granules The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures. tmpxe7fu0cj_hp_relaxed.owl 2021-08-21 13:12:12+00:00 See figure 1 of PMID:26830108. peter owl:Class CHEBI:33295 biolink:NamedThing diagnostic agent A substance administered to aid diagnosis of a disease. tmpxe7fu0cj_hp_relaxed.owl diagnostic aid chebi_ontology owl:Class CHEBI:24396 biolink:NamedThing glycopeptide Any carbohydrate derivative that consists of glycan moieties covalently attached to the side chains of the amino acid residues that constitute the peptide. tmpxe7fu0cj_hp_relaxed.owl glycopeptides CHEBI:24395|CHEBI:5478 chebi_ontology owl:Class GO:0070956 biolink:NamedThing negative regulation of neutrophil mediated killing of bacterium Any process that decreases the frequency, rate or extent of the directed killing of a bacterium by a neutrophil. tmpxe7fu0cj_hp_relaxed.owl down regulation of neutrophil mediated killing of bacterium|down-regulation of neutrophil mediated killing of bacterium|inhibition of neutrophil mediated killing of bacterium|downregulation of neutrophil mediated killing of bacterium mah 2009-10-01T02:20:17Z biological_process owl:Class HP:0012305 biolink:NamedThing Coarctation of the descending aortic arch Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022958 peter 2013-08-06T10:34:15Z human_phenotype owl:Class UBERON:0001510 biolink:NamedThing skin of knee A zone of skin that is part of a knee [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl knee zone of skin|knee skin|zone of skin of knee NCIT:C64859|FMA:37800|EMAPA:18151|UMLS:C0222275|MA:0000668 uberon owl:Class UBERON:0006058 biolink:NamedThing multi-limb segment region A collection of two or more connected limb segments. Examples: arm (comprising stylopod and zeugopod regions). tmpxe7fu0cj_hp_relaxed.owl uberon https://github.com/obophenotype/uberon/issues/514 owl:Class GO:0070948 biolink:NamedThing regulation of neutrophil mediated cytotoxicity Any process that modulates the rate, frequency or extent of neutrophil mediated killing of a target cell, the directed killing of a target cell by a neutrophil. tmpxe7fu0cj_hp_relaxed.owl regulation of neutrophil mediated cell killing mah 2009-10-01T02:14:36Z biological_process owl:Class UBERON:0006003 biolink:NamedThing integumentary adnexa Anatomical structure embedded in or located in the integument that is part of the integumental system. Examples: hair, follicles, skin glands, claws, nails, feathers. tmpxe7fu0cj_hp_relaxed.owl skin adnexa|adnexae cutis|body hair or bristle|skin adnexal structure|skin appendage EMAPA:37883|Wikipedia:Skin_appendage add subclasses based on resolution of CARO tracker item. Also check: adnexal gland. Note that MP implicitly includes hypodermis. uberon owl:Class the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails[MP:0010678] GO:1905063 biolink:NamedThing regulation of vascular associated smooth muscle cell differentiation Any process that modulates the frequency, rate or extent of vascular smooth muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of vascular smooth muscle cell differentiation|regulation of VSMC differentiation rph 2016-03-21T11:14:53Z biological_process owl:Class GO:0051150 biolink:NamedThing regulation of smooth muscle cell differentiation Any process that modulates the frequency, rate or extent of smooth muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0000078 biolink:NamedThing Abnormality of the genital system An abnormality of the genital system. tmpxe7fu0cj_hp_relaxed.owl Genital anomalies|Genital abnormalities|Genital defects|Abnormality of the reproductive system|Genital abnormality UMLS:C0744356|UMLS:C0281966 human_phenotype owl:Class UBERON:0002426 biolink:NamedThing chest muscle Any muscle organ that is part of a chest [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscle organ of anterior thoracic region|front of thorax muscle organ|thoracic muscle|muscle organ of anterolateral part of thorax|muscle organ of front of thorax|muscle organ of chest|chest muscle organ|musculus thoracicus|anterolateral part of thorax muscle organ|anterior thoracic region muscle organ|muscle of thorax BTO:0000508|FMA:9619|MA:0000548|EMAPA:17748|EMAPA:17747|CALOHA:TS-1037 uberon owl:Class UBERON:4100117 biolink:NamedThing presacral rib Rib located anterior to the sacral region. tmpxe7fu0cj_hp_relaxed.owl NI uberon owl:Class HP:0100918 biolink:NamedThing Sclerosis of 2nd finger phalanx An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in 2nd finger bone|Sclerosis of the phalanges of the 2nd finger UMLS:C4020937 human_phenotype owl:Class UBERON:0009657 biolink:NamedThing artery of lip tmpxe7fu0cj_hp_relaxed.owl labial artery MA:0001987|NCIT:C52947|EMAPA:37092|UMLS:C1708633 uberon owl:Class GO:0005981 biolink:NamedThing regulation of glycogen catabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0009725 biolink:NamedThing response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. tmpxe7fu0cj_hp_relaxed.owl growth regulator|response to hormone stimulus biological_process owl:Class GO:0009719 biolink:NamedThing response to endogenous stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. tmpxe7fu0cj_hp_relaxed.owl Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class UBERON:0001119 biolink:NamedThing right lobe of thyroid gland A lobe of thyroid gland that is in the right side of a thyroid gland. tmpxe7fu0cj_hp_relaxed.owl thyroid gland right lobe|right thyroid lobe|lobus dexter (glandula thyroidea) EMAPA:18198|VHOG:0000733|NCIT:C33491|UMLS:C0229581|FMA:13368|EHDAA2:0001759|MA:0000729 uberon owl:Class Thus, a thyroid capable of forming iodotyrosines and iodothyronines is present in all vertebrates. (...) Certain morphologic changes occur after the biochemical evolution of the thyroid has ceased. In the adult lamprey and in most bony fishes, the gland is not encapsulated. (...) In cartilaginous fish, the thyroid is encapsulated. In the higher vertebrate forms, the thyroid is a one- or two-lobed encapsulated structure.[well established][VHOG] https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0001118 biolink:NamedThing lobe of thyroid gland A lobe of tissue that is part of a thyroid gland. tmpxe7fu0cj_hp_relaxed.owl lobus (glandula thyroidea)|thyroid lobe|lobuli glandulae thyroideae|thyroid gland lobe|lobus glandulae thyroideae EHDAA2:0002032|MA:0000131|FMA:13367|UMLS:C0447647|VHOG:0000732|NCIT:C33784|EMAPA:18196 The lobes of the thyroid gland are conical in shape, the apex of each being directed upward and lateralward as far as the junction of the middle with the lower third of the thyroid cartilage; the base looks downward, and is on a level with the fifth or sixth tracheal ring. Each lobe is about 5 cm. long; its greatest width is about 3 cm. , and its thickness about 2 cm. The lateral or superficial surface is convex, and covered by the skin, the superficial and deep fasciæ, the Sternocleidomastoideus, the superior belly of the Omohyoideus, the Sternohyoideus and Sternothyreoideus, and beneath the last muscle by the pretracheal layer of the deep fascia, which forms a capsule for the gland. The deep or medial surface is moulded over the underlying structures, viz. , the thyroid and cricoid cartilages, the trachea, the Constrictor pharyngis inferior and posterior part of the Cricothyreoideus, the esophagus (particularly on the left side of the neck), the superior and inferior thyroid arteries, and the recurrent nerves. The anterior border is thin, and inclines obliquely from above downward toward the middle line of the neck, while the posterior border is thick and overlaps the common carotid artery, and, as a rule, the parathyroids http://upload.wikimedia.org/wikipedia/commons/9/9e/Gray1174.png uberon owl:Class Thus, a thyroid capable of forming iodotyrosines and iodothyronines is present in all vertebrates. (...) Certain morphologic changes occur after the biochemical evolution of the thyroid has ceased. In the adult lamprey and in most bony fishes, the gland is not encapsulated. (...) In cartilaginous fish, the thyroid is encapsulated. In the higher vertebrate forms, the thyroid is a one- or two-lobed encapsulated structure.[well established][VHOG] NCBITaxon:91561 biolink:NamedThing Artiodactyla tmpxe7fu0cj_hp_relaxed.owl owl:Class NCBITaxon:314145 biolink:NamedThing Laurasiatheria tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0000598 biolink:NamedThing Abnormality of the ear An abnormality of the ear. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the ear|Ear anomaly SNOMEDCT_US:275259005|UMLS:C0266589 Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. human_phenotype owl:Class CL:0000696 biolink:NamedThing PP cell A cell that stores and secretes pancreatic polypeptide hormone. tmpxe7fu0cj_hp_relaxed.owl type F enteroendocrine cell FMA:62938|FMA:83409 cell owl:Class CHEBI:38793 biolink:NamedThing pteroate tmpxe7fu0cj_hp_relaxed.owl 0 C14H11N6O3 311.276 311.08926 CHEBI:37074 chebi_ontology owl:Class HP:0025096 biolink:NamedThing Paroxysmal sneezing Unprovoked explosive pathological sneezing. tmpxe7fu0cj_hp_relaxed.owl 2016-10-24 01:37:09+00:00 HPO:probinson owl:Class HP:0025095 biolink:NamedThing Sneeze A sudden violent, spasmodic, audible expiration of breath through the nose and mouth. tmpxe7fu0cj_hp_relaxed.owl 2016-10-24 01:36:17+00:00 HPO:probinson owl:Class HP:0011926 biolink:NamedThing Proximal placement of hallux Proximal mislocalization of the big toe from its normal position. tmpxe7fu0cj_hp_relaxed.owl Proximally placed halluces|Proximal placement of big toe UMLS:C4021110 Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. peter 2012-06-09T03:29:59Z human_phenotype owl:Class HP:3000051 biolink:NamedThing Abnormal hyoglossus muscle morphology An abnormality of a hyoglossus muscle. tmpxe7fu0cj_hp_relaxed.owl Abnormality of hyoglossus muscle UMLS:C4073259 vasilevs 2015-08-07T01:08:58Z human_phenotype owl:Class HP:0040293 biolink:NamedThing Right hemiplegia tmpxe7fu0cj_hp_relaxed.owl Hemiplegia (right) owl:Class HP:0002301 biolink:NamedThing Hemiplegia Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. tmpxe7fu0cj_hp_relaxed.owl Paralysis on one side of body UMLS:C0018991|SNOMEDCT_US:50582007|MSH:D006429 human_phenotype owl:Class HP:0025620 biolink:NamedThing Abnormal proportion of CD4+ central memory cells An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype. tmpxe7fu0cj_hp_relaxed.owl Abnormal proportion of central memory CD4+, alpha-beta T cells 2019-04-08 23:55:32+00:00 HPO:probinson owl:Class HP:0410379 biolink:NamedThing Abnormal proportion of CD4-positive, alpha-beta memory T cells An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0005111 biolink:NamedThing metanephric pyramid Metanephric pyramids are the conical masses that constitute the renal medulla in a metanephros; they contain the loops of Henle and the medullary collecting ducts[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0012114 biolink:NamedThing Endometrial carcinoma A carcinoma of the endometrium, the mucous lining of the uterus. tmpxe7fu0cj_hp_relaxed.owl MSH:D016889|UMLS:C0476089|SNOMEDCT_US:254878006 hecht 2012-09-16T04:37:32Z human_phenotype owl:Class HP:0030126 biolink:NamedThing Abnormality of the endometrium An anomaly of the inner mucous membrane of the uterus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022620 owl:Class CL:0000354 biolink:NamedThing blastemal cell tmpxe7fu0cj_hp_relaxed.owl blastema cell ncithesaurus:Blastemal_Cell cell owl:Class HP:0025028 biolink:NamedThing Abnormality of enteric nervous system morphology A structural anomaly of nerves of the enteric nervous system. tmpxe7fu0cj_hp_relaxed.owl 2016-08-27 11:10:48+00:00 The enteric nervous system represents a collection of about 500 million neurons that control virtually all gut functions (including motility), largely independent from the central nervous system. The enteric nervous system is located in the gut wall and extends throughout its length from the esophagus to the internal anal sphincter. HPO:probinson owl:Class GO:0010821 biolink:NamedThing regulation of mitochondrion organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. tmpxe7fu0cj_hp_relaxed.owl regulation of mitochondrion organisation biological_process owl:Class GO:0032104 biolink:NamedThing regulation of response to extracellular stimulus Any process that modulates the frequency, rate or extent of a response to an extracellular stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009179 biolink:NamedThing Deviation of the 5th finger Displacement of the 5th finger from its normal position. tmpxe7fu0cj_hp_relaxed.owl Laterally displaced fifth finger|Displaced little finger|Displaced pinkie finger|Displaced pinky finger UMLS:C4021515 peter 2008-12-29T03:29:20Z HP:0006036 human_phenotype owl:Class UBERON:0015041 biolink:NamedThing pedal digit 5 metatarsal endochondral element A pedal digit 5 metatarsal bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl pedal digit 5 metatarsal element|pedal digit V metatarsal endochondral element|pedal digit 5 metatarsal skeletal element uberon owl:Class HP:0011545 biolink:NamedThing Abnormal connection of the cardiac segments A deviance in the normal connections between two cardiac segements. tmpxe7fu0cj_hp_relaxed.owl Abnormal connexion of the cardiac segments|Discordant connection of the cardiac segments UMLS:C4023306 peter 2012-04-07T11:24:25Z owl:Class HP:0004275 biolink:NamedThing Duplication of hand bones tmpxe7fu0cj_hp_relaxed.owl Duplication of hand bones UMLS:C3276746 human_phenotype owl:Class HP:0011945 biolink:NamedThing Bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss. tmpxe7fu0cj_hp_relaxed.owl Cryptogenic organizing pneumonia|Bronchiolitis obliterans organising pneumonia|Cryptogenic organising pneumonia|BOOP UMLS:C0242770|MSH:D018549|SNOMEDCT_US:129458007 peter 2012-06-18T07:55:41Z human_phenotype owl:Class GO:0021594 biolink:NamedThing rhombomere formation The process that gives rise to the rhombomere. This process pertains to the initial formation of a structure from unspecified parts. Rhombomeres are transverse segments of the developing rhombencephalon. Rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0002986 biolink:NamedThing Radial bowing A bending or abnormal curvature of the radius. tmpxe7fu0cj_hp_relaxed.owl Bowed radii|Bowing of radius bone of the forearm|Bowed radius|Bowing of outer large bone of the forearm UMLS:C1859399 HP:0004996 human_phenotype owl:Class HP:0003956 biolink:NamedThing Bowed forearm bones A bending or abnormal curvature affecting either the radius, the ulna, or both. tmpxe7fu0cj_hp_relaxed.owl Bowed forearm bones UMLS:C4025481 human_phenotype owl:Class HP:0032004 biolink:NamedThing Pruritus vulvae A sensation of itching in the vulvar region. tmpxe7fu0cj_hp_relaxed.owl 2018-07-15 22:20:09+00:00 peter owl:Class HP:0005478 biolink:NamedThing Prominent frontal sinuses tmpxe7fu0cj_hp_relaxed.owl Increased volume of frontal sinus|Large frontal sinus|Hyperplasia of frontal sinus|Hypertrophy of frontal sinus|Increased size of frontal sinus UMLS:C4280480|UMLS:C1969404|UMLS:C4280479|UMLS:C4280265|UMLS:C4280481 human_phenotype owl:Class UBERON:0003825 biolink:NamedThing nerve of abdominal segment A nerve that is part of an abdominal segment of trunk [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl abdominal segment nerve EMAPA:37061|MA:0000528 uberon owl:Class HP:0006990 biolink:NamedThing Myelin-dependent gliosis A type of gliosis that occurs in the vicinity of injured neurons. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024954 human_phenotype owl:Class GO:0045636 biolink:NamedThing positive regulation of melanocyte differentiation Any process that activates or increases the frequency, rate or extent of melanocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl stimulation of melanocyte differentiation|activation of melanocyte differentiation|upregulation of melanocyte differentiation|up regulation of melanocyte differentiation|positive regulation of melanophore differentiation|up-regulation of melanocyte differentiation biological_process owl:Class HP:0410145 biolink:NamedThing Decreased biotinidase level A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. tmpxe7fu0cj_hp_relaxed.owl 2018-03-12 20:14:33+00:00 owl:Class HP:0410144 biolink:NamedThing Abnormal biotinidase level An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. tmpxe7fu0cj_hp_relaxed.owl 2018-03-12 20:12:17+00:00 owl:Class HP:0032456 biolink:NamedThing Unlayered lissencephaly A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter. tmpxe7fu0cj_hp_relaxed.owl 2019-03-08 11:17:49+00:00 peter owl:Class HP:0007417 biolink:NamedThing Discoid lupus rash Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy. tmpxe7fu0cj_hp_relaxed.owl Discoid lupus erythematosus SNOMEDCT_US:238927000|SNOMEDCT_US:200938002|MSH:D008179|UMLS:C0024138 This lesion is characterstic of discoid lupus erythematosus, but similar lesions may be observed in other diseases. ORCID:0000-0002-5316-1399 HP:0000981 human_phenotype owl:Class GO:1901693 biolink:NamedThing negative regulation of compound eye retinal cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of compound eye retinal cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl inhibition of compound eye retinal cell apoptotic process|down regulation of compound eye retinal cell apoptotic process|downregulation of compound eye retinal cell apoptotic process|down-regulation of compound eye retinal cell apoptotic process pr 2012-12-12T10:28:40Z biological_process owl:Class HP:0003713 biolink:NamedThing Muscle fiber necrosis Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. tmpxe7fu0cj_hp_relaxed.owl Muscle fibre necrosis UMLS:C1850848 HP:0003726 human_phenotype owl:Class GO:0010594 biolink:NamedThing regulation of endothelial cell migration Any process that modulates the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0033873 biolink:NamedThing Cortical peritubular capillary intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney. tmpxe7fu0cj_hp_relaxed.owl Intraluminal thrombi within cortical peritubular capillaries 2021-06-23 19:23:11+00:00 peter owl:Class GO:0009896 biolink:NamedThing positive regulation of catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. tmpxe7fu0cj_hp_relaxed.owl stimulation of catabolic process|activation of catabolic process|up-regulation of catabolic process|up regulation of catabolic process|upregulation of catabolic process|positive regulation of catabolism|positive regulation of degradation|positive regulation of breakdown biological_process owl:Class CHEBI:30807 biolink:NamedThing tetradecanoate A long-chain fatty acid anion that is the conjugate base of myristic acid; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl n-tetradecan-1-oate|CH3-[CH2]12-COO(-)|n-tetradecoate|Tetradecanoate|myristate|tetradecanoate|1-tetradecanecarboxylate|tetradecoate -1 C14H27O2 InChI=1S/C14H28O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14(15)16/h2-13H2,1H3,(H,15,16)/p-1 TUNFSRHWOTWDNC-UHFFFAOYSA-M 227.364 227.20165 C(CCCCCCCC)CCCCC([O-])=O KEGG:C06424|Beilstein:3589340|Gmelin:335122|Reaxys:3589340 CHEBI:35292 chebi_ontology owl:Class HP:4000030 biolink:NamedThing Anti-reticulin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 15:01:52+00:00 robinp owl:Class UBERON:0001919 biolink:NamedThing endothelium of vein An endothelium that is part of a vein [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl veinous endothelium|vein endothelium|venous endothelium FMA:62118|NCIT:C49317|XAO:0000358|BTO:0004756|MA:0000712|UMLS:C1179027|VHOG:0001216|EMAPA:36288|AAO:0011110 uberon owl:Class Vertebrates and a very few invertebrates such as squids have evolved a secondary epithelium, the endothelium, that lines their blood vessels.[well established][VHOG] HP:0100923 biolink:NamedThing Clavicular sclerosis An increase in bone density within the clavicle. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in collarbone|Osteosclerosis of the clavicles|Osteosclerosis of the clavicle UMLS:C3554669 doelkens 2011-12-02T10:28:41Z HP:0006648 owl:Class UBERON:0001960 biolink:NamedThing periarterial lymphatic sheath The area of the spleen in which T cells surround the central arteriole. tmpxe7fu0cj_hp_relaxed.owl splenic periarteriolar lymphoid sheath|spleen periarteriolar lymphatic sheath|T cell domain of the splenic white pulp|periarterial lymphoid sheath|PALS|periarteriolar sheath MA:0000765|FMA:62810|EMAPA:37750 uberon owl:Class FMA distinguishes periarterial (PALS) from periarteriolar (FMA:62806) HP:0010733 biolink:NamedThing Naevus flammeus of the eyelid Naevus flammeus localised in the skin of the eyelid. tmpxe7fu0cj_hp_relaxed.owl Port-wine stain on eyelid UMLS:C1854409 doelkens 2010-04-21T05:18:41Z human_phenotype owl:Class HP:0001052 biolink:NamedThing Nevus flammeus A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. tmpxe7fu0cj_hp_relaxed.owl port-wine stain|Nevus simplex MEDDRA:10067193|MSH:D019339|SNOMEDCT_US:254211001|UMLS:C0235752|SNOMEDCT_US:416377005 Port-wine stains generally become deeper, thicker, and darker in color over time, mainly as a result of progressive vascular dilatation. As a result of these changes, which are generally much more evident on the face, patients often develop hypertrophy and nodularity after the third or fourth decade of life. The fact that nodules are only found on the face and do not occur in childhood has led some authors to suggest that port-wine stains might actually be hamartomatous lesions. human_phenotype owl:Class HP:0041248 biolink:NamedThing Fractured carpal bone A partial or complete breakage of the carpal bone. tmpxe7fu0cj_hp_relaxed.owl Wrist fracture|Fractured wrist|bone carpal bone|Broken wrist|Carpal bone fracture owl:Class HP:0040090 biolink:NamedThing Abnormality of the tympanic membrane An abnormality of the tympanic membrane tmpxe7fu0cj_hp_relaxed.owl Abnormality of the eardrum UMLS:C4022447 The tympanic membrane is considered to be the border of middle and outer ear. HPO:skoehler owl:Class HP:0030574 biolink:NamedThing Pinhole visual acuity 0.6 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073047 owl:Class HP:0010070 biolink:NamedThing Curved 1st metatarsal A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Curved 1st long bone of foot UMLS:C4024074 doelkens 2009-05-29T12:13:57Z human_phenotype owl:Class HP:0410352 biolink:NamedThing Increased complex N-glycan level An abnormal increase in the concentration of complex N-glycans on glycoproteins. tmpxe7fu0cj_hp_relaxed.owl Increased concentration of complex N-glycans on glycoproteins owl:Class HP:0007210 biolink:NamedThing Lower limb amyotrophy Muscular atrophy affecting the lower limb. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024921 human_phenotype owl:Class HP:0031917 biolink:NamedThing Digital ulcer An open sore on the surface of the skin of a finger or toe. tmpxe7fu0cj_hp_relaxed.owl 2018-07-02 00:51:19+00:00 Digital ulcers are a common manifestation of systemic sclerosis, and can be responsible for substantial pain and mobidity. peter owl:Class CL:1000414 biolink:NamedThing endothelial cell of venule An endothelial cell that is part of the venule. tmpxe7fu0cj_hp_relaxed.owl FMA:67762 cell owl:Class HP:0033435 biolink:NamedThing Abnormal circulating keto acid concentration A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 18:24:28+00:00 peter owl:Class HP:0009979 biolink:NamedThing Complete duplication of the middle phalanx of the 4th finger Complete duplication of the middle phalanx of ring finger. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the middle bone of the ring finger UMLS:C4024132 doelkens 2009-05-26T02:20:23Z human_phenotype owl:Class HP:0030881 biolink:NamedThing Shoulder impingement Trapping and compression of the rotator cuff tendons during shoulder movements. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1655733 Shoulder impingment can cause the rotator cuff tendon to become inflamed and swollen (rotator cuff tendonitis). Similarly, shoulder impingement can cause the bursa to become inflamed (shoulder bursitis). owl:Class HP:0004828 biolink:NamedThing Refractory anemia with ringed sideroblasts A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts. tmpxe7fu0cj_hp_relaxed.owl Refractory anaemia with ringed sideroblasts|Myelodysplasia with sideroblastosis UMLS:C1264195|SNOMEDCT_US:128846006|ICD-O:M9982/3|SNOMEDCT_US:109998009 human_phenotype owl:Class HP:0012150 biolink:NamedThing Single lineage myelodysplasia Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023019 peter 2012-09-16T08:39:39Z human_phenotype owl:Class CL:0002591 biolink:NamedThing smooth muscle cell of the pulmonary artery A smooth muscle of the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl BTO:0003336 tmeehan 2011-03-06T05:01:28Z cell owl:Class HP:0033891 biolink:NamedThing Renal arteriolar lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. tmpxe7fu0cj_hp_relaxed.owl Cholesterol emboli within the arteriolar lumen 2021-06-23 22:11:23+00:00 peter owl:Class HP:0003440 biolink:NamedThing Horizontal sacrum tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850558 human_phenotype owl:Class HP:0007458 biolink:NamedThing Focal hyperextensible skin tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024870 human_phenotype owl:Class HP:0000974 biolink:NamedThing Hyperextensible skin A condition in which the skin can be stretched beyond normal, and then returns to its initial position. tmpxe7fu0cj_hp_relaxed.owl Stretchable skin|Hyperelastic skin|Skin hyperextensibility|Skin hyperelasticity UMLS:C0241074 Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds. HP:0007389|HP:0007578|HP:0007493 human_phenotype owl:Class HP:0002408 biolink:NamedThing Cerebral arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain. tmpxe7fu0cj_hp_relaxed.owl Cerebral AV malformation MSH:D002538|SNOMEDCT_US:234142008|UMLS:C0917804|Fyler:2201 human_phenotype owl:Class HP:0009715 biolink:NamedThing Papillary cystadenoma of the epididymis A cystadenoma, an epithelial tumor, that originates within the head of the epididymis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024221|NCIT:C2974 Papillary cystadenomas of the epididymis are partially or completely cystic or solid lesions, between 1-3 cm in diameter and arise from the efferent duct epithelium of the head of epididymis. peter 2009-01-30T11:46:33Z HP:0030422 owl:Class HP:0030421 biolink:NamedThing Epididymal neoplasm A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3262|SNOMEDCT_US:126902008|UMLS:C0346239 owl:Class UBERON:0006966 biolink:NamedThing coronary capillary A capillary that is part of the coronary system. tmpxe7fu0cj_hp_relaxed.owl heart capillary ZFA:0005813 uberon owl:Class HP:0011535 biolink:NamedThing Abnormal atrial arrangement Abnormality of the spatial relationship of the atria to other components of the heart. tmpxe7fu0cj_hp_relaxed.owl Abnormal location of heart atrium SNOMEDCT_US:445898001|UMLS:C2959688 peter 2012-04-07T10:31:16Z human_phenotype owl:Class GO:1900015 biolink:NamedThing regulation of cytokine production involved in inflammatory response Any process that modulates the frequency, rate or extent of cytokine production involved in inflammatory response. tmpxe7fu0cj_hp_relaxed.owl regulation of cytokine production involved in acute inflammatory response rph 2012-01-11T09:34:27Z biological_process owl:Class UBERON:0016425 biolink:NamedThing epiphyseal plate of radius An epiphyseal plate that is part of a radius bone. tmpxe7fu0cj_hp_relaxed.owl FMA:34354 uberon owl:Class HP:0009446 biolink:NamedThing Triangular shaped phalanges of the 3rd finger Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped bone of the middle finger UMLS:C4024357 doelkens 2009-01-14T04:09:01Z human_phenotype owl:Class PATO:0001546 biolink:NamedThing quality of a solid A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity characterized by particles arranged such that their shape and volume are relatively stable. tmpxe7fu0cj_hp_relaxed.owl solidity quality owl:Class HP:0001885 biolink:NamedThing Short 2nd toe Underdevelopment (hypoplasia) of the second toe. tmpxe7fu0cj_hp_relaxed.owl Short second toe UMLS:C4021769 human_phenotype owl:Class HP:0031673 biolink:NamedThing Orthodromic atrioventricular reentrant tachycardia A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction. tmpxe7fu0cj_hp_relaxed.owl Orthodromic AVRT 2017-12-17 16:55:02+00:00 peter owl:Class HP:0011717 biolink:NamedThing Atrioventricular reentrant tachycardia Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove. tmpxe7fu0cj_hp_relaxed.owl AV nodal reentry tachycardia UMLS:C4023220 peter 2012-04-11T08:42:52Z human_phenotype owl:Class GO:0110011 biolink:NamedThing regulation of basement membrane organization Any process that modulates the frequency, rate or extent of the assembly, disassembly or arrangement of constituent parts of the basement membrane. tmpxe7fu0cj_hp_relaxed.owl kmv biological_process owl:Class GO:1904479 biolink:NamedThing negative regulation of intestinal absorption Any process that stops, prevents or reduces the frequency, rate or extent of intestinal absorption. tmpxe7fu0cj_hp_relaxed.owl inhibition of intestinal absorption|down-regulation of intestinal absorption|downregulation of intestinal absorption|down regulation of intestinal absorption rl 2015-07-13T15:58:54Z biological_process owl:Class HP:0002208 biolink:NamedThing Coarse hair Hair shafts are rough in texture. tmpxe7fu0cj_hp_relaxed.owl Coarse hair|Coarse hair texture|Rough hair texture UMLS:C0277959|UMLS:C4072834|SNOMEDCT_US:48610005 HP:0200078 human_phenotype owl:Class HP:0200046 biolink:NamedThing Cat cry The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten. tmpxe7fu0cj_hp_relaxed.owl Cat cry|cri de chat-associated cry|cat-like cry UMLS:C0234861|SNOMEDCT_US:42712003 This unusual cry is characteristic of the cri du chat syndrome which results from a deletion on the p arm of chromosome 5. It is thought to be due to laryngeal hypoplasia, floppy epiglottis, small larynx, and asymmetric vocal cords, but is probably also related to dysfunction of the central nervous system. This sign occurs in infants and disappears with age. sebastiankohler 2011-02-02T01:56:20Z human_phenotype owl:Class HP:0006406 biolink:NamedThing Club-shaped proximal femur An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis. tmpxe7fu0cj_hp_relaxed.owl Club-shaped innermost end of thighbone UMLS:C1968611 previous def: 'has part' some (clavate and ('inheres in' some 'Proximal end of femur (adult human)') and ('has modifier' some abnormal)) owl:Class HP:0033683 biolink:NamedThing Jaw hyperreflexia Increased intensity of muscle tendon reflexes in jaw. tmpxe7fu0cj_hp_relaxed.owl Brisk jaw jerk 2021-03-06 13:25:00+00:00 peter owl:Class GO:0048631 biolink:NamedThing regulation of skeletal muscle tissue growth Any process that modulates the frequency, rate or extent of skeletal muscle growth. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0002378 biolink:NamedThing muscle of abdomen Muscle (organ) which is a part of the abdomen. Examples: external oblique, rectus abdominis. tmpxe7fu0cj_hp_relaxed.owl abdominal muscle|abdomen muscle|abdomen muscle organ|abdominal wall muscle|abdominal wall musculature|muscle organ of abdomen FMA:9620|MESH:D000009|UMLS:C0000739|BTO:0001261|Wikipedia:Abdominal_muscle|MA:0000520|NCIT:C32040|OpenCyc:Mx4rvlygNJwpEbGdrcN5Y29ycA|SCTID:361352008|EMAPA:35103|GAID:89 uberon owl:Class HP:0025558 biolink:NamedThing Lamellar cataract with riders Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens. tmpxe7fu0cj_hp_relaxed.owl 2017-12-13 12:54:00+00:00 HPO:probinson owl:Class HP:0032816 biolink:NamedThing Neonatal multifocal myoclonic seizure Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0013637 biolink:NamedThing prostate gland lateral lobe The prostate gland lobe that is located on the lateral side of the organ. tmpxe7fu0cj_hp_relaxed.owl lateral lobe of prostate|lateral ventral lobe of prostate gland|lateral prostate|lateral lobe of prostate gland MA:0003125|FMA:19577|NCIT:C13092|EMAPA:29822 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern PATO:0001940 biolink:NamedThing gigantic A size quality inhering in a bearer by virtue of the bearer's being many folds greater relative to the normal average. tmpxe7fu0cj_hp_relaxed.owl giant quality owl:Class UBERON:0003325 biolink:NamedThing mesenchyme of pinna Mesenchyme that is part of a developing pinna [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl auricle mesenchyme|mesenchyme of pinna of ear|mesenchyme of auricle of ear|mesenchyme of auricle of external ear|pinna of ear mesenchyme|pinna mesenchyme|auricle of external ear mesenchyme|mesenchyme of auricula|auricula mesenchyme|mesenchyme of auricle|mesenchyme of auricula (auris externa)|auricula (auris externa) mesenchyme|auricle of ear mesenchyme EHDAA2:0001469|VHOG:0000747|EHDAA:8981|EMAPA:17591 uberon owl:Class EMAPA divides this spatially into condensation + rest, and temporally into mesenchyme and cartilage condensation CHEBI:22728 biolink:NamedThing benzopyrrole tmpxe7fu0cj_hp_relaxed.owl benzopyrroles chebi_ontology owl:Class UBERON:0005249 biolink:NamedThing metanephric renal pelvis A renal pelvis that is part of a metanephros. tmpxe7fu0cj_hp_relaxed.owl metanephros pelvis VHOG:0000945 uberon owl:Class The ureteric bud itself forms the collecting tubules and the ureter that drain the adult kidney. This type of kidney, called the metanephros, occurs in all adult amniotes.[well established][VHOG] HP:0200153 biolink:NamedThing Agenesis of lateral incisor tmpxe7fu0cj_hp_relaxed.owl Absence of lateral incisor|Failure of development of lateral incisor|Missing lateral incisor UMLS:C4021881|UMLS:C4227831 owl:Class HP:0025702 biolink:NamedThing Type 1 schizencephaly A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging. tmpxe7fu0cj_hp_relaxed.owl Trans-mantle schizencephaly peterrobinson owl:Class HP:0010652 biolink:NamedThing Abnormal dura mater morphology An abnormality of the Dura mater. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the dura mater UMLS:C4023757 peter 2010-02-25T10:29:40Z human_phenotype owl:Class HP:0009394 biolink:NamedThing Bracket epiphyses of the 4th finger An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of ring finger bones UMLS:C4024396 doelkens 2009-01-13T01:59:12Z HP:0004192 human_phenotype owl:Class CL:1000362 biolink:NamedThing transitional myocyte of interventricular septum A transitional myocyte that is part of the interventricular septum. tmpxe7fu0cj_hp_relaxed.owl FMA:263154 cell owl:Class CL:0002073 biolink:NamedThing transitional myocyte Specialized cardiac myocyte which is in the internodal tract and atrioventricular node. The cell is more slender than ordinary atrial myocytes and has more myofibrils than nodal myocytes. tmpxe7fu0cj_hp_relaxed.owl FMA:67142 tmeehan 2010-06-29T02:39:32Z cell owl:Class GO:1903077 biolink:NamedThing negative regulation of protein localization to plasma membrane Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to plasma membrane. tmpxe7fu0cj_hp_relaxed.owl downregulation of protein localization in plasma membrane|down-regulation of protein targeting to plasma membrane|down regulation of protein localization to plasma membrane|negative regulation of protein targeting to plasma membrane|downregulation of protein-plasma membrane targeting|down-regulation of protein localization in plasma membrane|downregulation of protein localisation in plasma membrane|negative regulation of establishment of protein localization in plasma membrane|down-regulation of protein-plasma membrane targeting|downregulation of protein targeting to plasma membrane|downregulation of protein localization to plasma membrane|down-regulation of protein localization to plasma membrane|down-regulation of protein localisation in plasma membrane|inhibition of protein targeting to plasma membrane|inhibition of protein localization to plasma membrane|down regulation of protein targeting to plasma membrane|inhibition of protein localisation in plasma membrane|negative regulation of protein localisation in plasma membrane|inhibition of protein-plasma membrane targeting|negative regulation of protein localization in plasma membrane|down regulation of protein localisation in plasma membrane|inhibition of protein localization in plasma membrane|negative regulation of establishment of protein localisation in plasma membrane|negative regulation of protein-plasma membrane targeting|down regulation of protein-plasma membrane targeting|down regulation of protein localization in plasma membrane|negative regulation of establishment of protein localization to plasma membrane tb 2014-05-29T17:10:16Z GO:0090005|GO:1905964 biological_process owl:Class CHEBI:23628 biolink:NamedThing deoxyhexose Any C6 deoxy sugar having at least one hydroxy group replaced by hydrogen. tmpxe7fu0cj_hp_relaxed.owl deoxyhexose|deoxyhexoses chebi_ontology owl:Class HP:0025338 biolink:NamedThing Circumlimbal hyperemia A ring of redness at the limbus of the eye, the border between the cornea and the sclera. tmpxe7fu0cj_hp_relaxed.owl Circumlimbal hyperaemia|Ciliary limbus 2017-02-12 12:32:14+00:00 HPO:probinson owl:Class HP:0002086 biolink:NamedThing Abnormality of the respiratory system An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. tmpxe7fu0cj_hp_relaxed.owl Respiratory abnormality UMLS:C4018871 owl:Class CL:0000748 biolink:NamedThing retinal bipolar neuron A bipolar neuron found in the retina and having connections with photoreceptors cells and neurons in the inner plexiform layer. tmpxe7fu0cj_hp_relaxed.owl owl:Class MPATH:379 biolink:NamedThing odontogenic tumor Neoplasm arising from the tissues of the odontogenic apparatus. These tumors are derived from ectodermal tissue (epithelial tumors) or from mesodermal tissue (connective tissue tumors) or are composed of both components (mixed or composite odontogenic tumors) . tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class UBERON:0011108 biolink:NamedThing synovial joint of pectoral girdle A synovial joint that is part of a pectoral girdle region. tmpxe7fu0cj_hp_relaxed.owl joint of shoulder girdle|pectoral girdle joint FMA:35243 uberon owl:Class in FMA, these are part of the bony pectoral girdle HP:0002164 biolink:NamedThing Nail dysplasia The presence of developmental dysplasia of the nail. tmpxe7fu0cj_hp_relaxed.owl Atypical nail growth|Onychodysplasia|Dysplastic nails UMLS:C1834405 HP:0008409|HP:0001797|HP:0008412|HP:0001794|HP:0008387|HP:0001793|HP:0008403 owl:Class HP:0007178 biolink:NamedThing Motor polyneuropathy tmpxe7fu0cj_hp_relaxed.owl Peripheral motor neuropathy MSH:D009443|UMLS:C0271683|MSH:D011115|UMLS:C0235025|SNOMEDCT_US:95663000|SNOMEDCT_US:85423005 HP:0007278 human_phenotype owl:Class HP:0012772 biolink:NamedThing Abnormal upper to lower segment ratio A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022728 peter 2014-04-07T03:12:56Z human_phenotype owl:Class HP:3000027 biolink:NamedThing Abnormality of buccinator muscle An abnormality of a buccinator muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073236 vasilevs 2015-08-07T00:16:16Z human_phenotype owl:Class HP:0004969 biolink:NamedThing Peripheral pulmonary artery stenosis Stenosis of a peripheral branch of the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl Peripheral pulmonic stenosis|peripheral pulmonary stenosis|Narrowing of peripheral lung artery SNOMEDCT_US:253631001|UMLS:C0345030 HP:0004957 human_phenotype owl:Class UBERON:0012252 biolink:NamedThing endocervical epithelium The glandular epithelium that lines the endocervix. tmpxe7fu0cj_hp_relaxed.owl endocervical glandular epithelium NCIT:C96180 uberon owl:Class HP:0025350 biolink:NamedThing Giant conjunctival papillae Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein. tmpxe7fu0cj_hp_relaxed.owl 2017-02-13 00:05:03+00:00 HPO:probinson owl:Class HP:0030946 biolink:NamedThing Conjunctival papillae Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells. tmpxe7fu0cj_hp_relaxed.owl 2017-01-13 20:21:47+00:00 Papillae may be observed with papillary conjunctivitis. The inflammatory cells in the papillae may differ according to the cause. For instance, eosinophils predominate in allergic conditions and neutrophils in bacterial disease. robinp owl:Class HGNC:9445 biolink:NamedThing PRL (human) A protein coding gene PRL in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class HP:0004532 biolink:NamedThing Sacral hypertrichosis Excessive, increased hair growth located in the sacral region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025313 human_phenotype owl:Class HP:0031059 biolink:NamedThing Impaired ability to bathe oneself This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 22:16:30+00:00 peter owl:Class HP:0032511 biolink:NamedThing Superiorly positioned umbilicus The position of the umbilicus (belly button) is abnormally high (superior). tmpxe7fu0cj_hp_relaxed.owl 2019-05-23 23:22:24+00:00 peter owl:Class GO:0031272 biolink:NamedThing regulation of pseudopodium assembly Any process that modulates the frequency, rate or extent of the assembly of pseudopodia. tmpxe7fu0cj_hp_relaxed.owl regulation of pseudopodium formation biological_process owl:Class HP:0025524 biolink:NamedThing Palmoplantar scaling skin Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot. tmpxe7fu0cj_hp_relaxed.owl Palmoplantar psoriasis 2017-05-17 23:50:31+00:00 HPO:probinson owl:Class HP:0040189 biolink:NamedThing Scaling skin Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. tmpxe7fu0cj_hp_relaxed.owl peeling skin|Desquamation|Scaly skin|Scaling skin|flaking skin SNOMEDCT_US:271767006|UMLS:C0237849|SNOMEDCT_US:14411002 owl:Class HP:0025273 biolink:NamedThing Achilles tendonitis Inflammation of the Achilles tendon. tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 13:52:07+00:00 HPO:probinson owl:Class HP:0025230 biolink:NamedThing Tendonitis Inflammation of a tendon. tmpxe7fu0cj_hp_relaxed.owl Teninitis 2016-12-14 11:20:22+00:00 HPO:probinson owl:Class UBERON:0010541 biolink:NamedThing tarsus cartilage element A cartilaginous condensation that has the potential to develop into a tarsal bone. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001977 uberon owl:Class PATO:0001236 biolink:NamedThing process quality A quality which inheres in an process. tmpxe7fu0cj_hp_relaxed.owl relational quality of occurrent|quality of occurrent|quality of a process|quality of process See comments of relational quality of a physical entity. PATO:0001239|PATO:0001240 quality owl:Class HP:0033135 biolink:NamedThing Hepatic infarction Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography. tmpxe7fu0cj_hp_relaxed.owl 2020-09-09 13:23:04+00:00 Hepatic infarction is infrequent due to the dual blood supply of the liver and the compensatory relationship between the hepatic artery and portal vein. peter owl:Class HP:0033453 biolink:NamedThing Limited neck extension Reduced abilty to move the head back towards the ceiling so that one is looking upwards. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 21:40:47+00:00 peter owl:Class PATO:0001576 biolink:NamedThing increased pressure A pressure which is relatively high. tmpxe7fu0cj_hp_relaxed.owl high pressure quality owl:Class UBERON:0013617 biolink:NamedThing upper primary molar tooth A primary molar tooth that is part of a upper jaw region. tmpxe7fu0cj_hp_relaxed.owl upper deciduous molar|upper deciduous molar tooth|primary upper molar tooth|upper primary molar tooth FMA:84210 uberon owl:Class GO:1903578 biolink:NamedThing regulation of ATP metabolic process Any process that modulates the frequency, rate or extent of ATP metabolic process. tmpxe7fu0cj_hp_relaxed.owl regulation of ATP metabolism sl 2014-10-30T19:04:24Z biological_process owl:Class HP:0100833 biolink:NamedThing Neoplasm of the small intestine The presence of a neoplasm of the small intestine. tmpxe7fu0cj_hp_relaxed.owl Small intestine tumour|Small intestine tumor NCIT:C3262|SNOMEDCT_US:126832004|UMLS:C0345832 An estimated 40% of small bowel cancers are adenocarcinomas, 40% are carcinoids, 15% are sarcomas (GI stromal tumors), and less than 5% are lymphomas. doelkens 2011-06-09T06:03:02Z human_phenotype owl:Class HP:0008483 biolink:NamedThing Cervical vertebral bodies with decreased anteroposterior diameter tmpxe7fu0cj_hp_relaxed.owl UMLS:C1847393 owl:Class GO:1900048 biolink:NamedThing positive regulation of hemostasis Any process that activates or increases the frequency, rate or extent of hemostasis. tmpxe7fu0cj_hp_relaxed.owl up-regulation of hemostasis|up regulation of hemostasis|upregulation of hemostasis|activation of hemostasis jl 2012-01-19T03:23:45Z biological_process owl:Class HP:0003292 biolink:NamedThing Decreased serum leptin A decreased concentration of leptin in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased serum leptin|Reduced circulating leptin level UMLS:C1837802 Leptin is an adipocyte-secreted hormone with a key role in energy homeostasis. human_phenotype owl:Class HP:0004361 biolink:NamedThing Abnormality of circulating leptin level An abnormal concentration of leptin in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025339 peter 2008-03-17T03:37:00Z human_phenotype owl:Class HP:0030076 biolink:NamedThing Lobular carcinoma in situ tmpxe7fu0cj_hp_relaxed.owl UMLS:C0279563|SNOMEDCT_US:109888004|MSH:D000071960 owl:Class GO:1905149 biolink:NamedThing positive regulation of smooth muscle hypertrophy Any process that activates or increases the frequency, rate or extent of smooth muscle hypertrophy. tmpxe7fu0cj_hp_relaxed.owl up regulation of smooth muscle hypertrophy|up-regulation of smooth muscle hypertrophy|activation of smooth muscle hypertrophy|upregulation of smooth muscle hypertrophy bc 2016-04-15T12:47:24Z biological_process owl:Class HP:0000013 biolink:NamedThing Hypoplasia of the uterus Underdevelopment of the uterus. tmpxe7fu0cj_hp_relaxed.owl Small uterus|Rudimentary uterus|Hypoplastic uterus|Underdeveloped uterus UMLS:C0266399|SNOMEDCT_US:35850006 HP:0001154|HP:0008637 human_phenotype owl:Class HP:0008684 biolink:NamedThing Aplasia/hypoplasia of the uterus Absence or developmental hypoplasia of the uterus. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped uterus|Absent/small uterus UMLS:C4024640 human_phenotype owl:Class GO:0010160 biolink:NamedThing formation of animal organ boundary The regionalization process that specifies animal organ primordium boundaries resulting in a restriction of organogenesis to a limited spatial domain and keeping the organ separate from surrounding tissues. tmpxe7fu0cj_hp_relaxed.owl organ boundary specification GO:0048862 biological_process owl:Class HP:0033120 biolink:NamedThing Nummular eczema A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet tmpxe7fu0cj_hp_relaxed.owl Discoid eczema|Nummular dermatitis 2020-09-03 12:14:32+00:00 peter owl:Class CHEBI:35107 biolink:NamedThing azane Saturated acyclic nitrogen hydrides having the general formula NnHn+2. tmpxe7fu0cj_hp_relaxed.owl azanes chebi_ontology owl:Class GO:0010560 biolink:NamedThing positive regulation of glycoprotein biosynthetic process Any process that increases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100416 biolink:NamedThing Partial duplication of the distal phalanx of the 3rd toe Partial duplication of distal phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the outermost bone of the 3rd toe|Partial duplication of the distal phalanx of the third toe UMLS:C4020983 human_phenotype owl:Class HP:0100398 biolink:NamedThing Duplication of the distal phalanx of the 3rd toe Partial or complete duplication of distal phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Duplication of the distal phalanx of the third toe|Duplication of the outermost bone of the 3rd toe|Partial/complete duplication of the distal phalanx of the 3rd toe UMLS:C4020999 human_phenotype owl:Class UBERON:0004988 biolink:NamedThing mucosa of cystic duct A mucosa that is part of a cystic duct [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl organ mucosa of cystic duct|cystic duct mucous membrane|cystic duct mucosa|mucous membrane of cystic duct|mucosa of organ of cystic duct|cystic duct mucosa of organ|cystic ductal mucosa|cystic duct organ mucosa FMA:14690 uberon owl:Class UBERON:0004999 biolink:NamedThing mucosa of biliary tree A mucosa that is part of a biliary tree [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl organ mucosa of biliary tract|mucosa of organ of biliary tree|biliary tree mucosa|biliary tree mucosa of organ|biliary tract mucous membrane|biliary tract mucosa of organ|mucous membrane of biliary tree|biliary tree organ mucosa|biliary tree mucous membrane|biliary tract organ mucosa|organ mucosa of biliary tree|mucosa of biliary tract|biliary tract mucosa|mucosa of organ of biliary tract|mucous membrane of biliary tract FMA:14695 uberon owl:Class HP:0025364 biolink:NamedThing Glomerular extracapillary hypercellularity Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. tmpxe7fu0cj_hp_relaxed.owl Extracapillary hypercellularity|Extracapillary glomerular hypercellularity 2017-02-20 14:07:24+00:00 HPO:probinson owl:Class HP:0012028 biolink:NamedThing Hepatocellular adenoma A benign tumor of the liver of presumably epithelial origin. tmpxe7fu0cj_hp_relaxed.owl Hepatic adenoma|Liver cell adenoma MPATH:353|MSH:D018248|UMLS:C0206669|SNOMEDCT_US:424263008|SNOMEDCT_US:78058005 peter 2012-07-27T01:24:44Z human_phenotype owl:Class HP:0002896 biolink:NamedThing Neoplasm of the liver A tumor (abnormal growth of tissue) of the liver. tmpxe7fu0cj_hp_relaxed.owl Liver tumor|Liver cancer|Liver tumour UMLS:C0023903|SNOMEDCT_US:126851005|SNOMEDCT_US:93870000|NCIT:C3262|UMLS:C0345904|MSH:D008113 human_phenotype owl:Class CHEBI:26986 biolink:NamedThing threonine An alpha-amino acid in which one of the hydrogens attached to the alpha-carbon of glycine is substituted by a 1-hydroxyethyl group. tmpxe7fu0cj_hp_relaxed.owl threonine|Threonin 0 C4H9NO3 119.119 119.05824 Beilstein:8204750|PMID:11379295|PMID:22264337|Wikipedia:Threonine|CAS:80-68-2|PMID:15221503 chebi_ontology owl:Class CHEBI:38263 biolink:NamedThing 2-amino-3-hydroxybutanoic acid An alpha-amino acid that is butanoic acid substituted by an amino group at position 2 and a hydroxy group at position 3. tmpxe7fu0cj_hp_relaxed.owl 2-amino-3-hydroxybutanoic acid 0 C4H9NO3 InChI=1S/C4H9NO3/c1-2(6)3(5)4(7)8/h2-3,6H,5H2,1H3,(H,7,8) AYFVYJQAPQTCCC-UHFFFAOYSA-N 119.11920 119.05824 CC(O)C(N)C(O)=O Beilstein:1098902 chebi_ontology owl:Class CHEBI:32678 biolink:NamedThing glutaminate An alpha-amino-acid anion that is the conjugate base of glutamine, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl 2,5-diamino-5-oxopentanoate|glutaminate|gln(-)|glutamine anion -1 C5H9N2O3 InChI=1S/C5H10N2O3/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H2,7,8)(H,9,10)/p-1 ZDXPYRJPNDTMRX-UHFFFAOYSA-M 145.13664 145.06187 NC(CCC(N)=O)C([O-])=O Gmelin:464703 chebi_ontology owl:Class GO:0033029 biolink:NamedThing regulation of neutrophil apoptotic process Any process that modulates the frequency, rate, or extent of neutrophil apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of neutrophil apoptosis biological_process owl:Class HP:0009640 biolink:NamedThing Synostosis of the proximal phalanx of the thumb with the 1st metacarpal Fusion of the proximal phalanx of the thumb with the 1st metacarpal. tmpxe7fu0cj_hp_relaxed.owl Ankylosis of the metacarpophalangeal joint of the thumb|Fusion of the innermost bone of the thumb with the 1st long bone of hand UMLS:C4024262 doelkens 2009-01-29T05:17:08Z owl:Class GO:0060456 biolink:NamedThing positive regulation of digestive system process Any process that increases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0015056 biolink:NamedThing ischial endochondral element An ischial bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl ischial element|ischial skeletal element uberon owl:Class HP:0009157 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 5th finger Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the innermost bone of pinkie finger|Ivory epiphysis of the proximal phalanx of the little finger|Increased bone density of end part of the innermost bone of little finger|Increased bone density of end part of the innermost bone of pinky finger UMLS:C4024567|UMLS:C4020782 peter 2008-12-22T05:50:39Z human_phenotype owl:Class HP:0011337 biolink:NamedThing Abnormality of mouth size tmpxe7fu0cj_hp_relaxed.owl Abnormality of mouth size|Anomaly of mouth size UMLS:C4023408 peter 2012-02-26T11:00:17Z human_phenotype owl:Class HP:0000227 biolink:NamedThing Tongue telangiectasia Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. tmpxe7fu0cj_hp_relaxed.owl Lingual angioectasias|Spider veins of the tongue|Angioectasias of the tongue|Lingual telangiectasia UMLS:C4025878|UMLS:C4280668 human_phenotype owl:Class HP:0006623 biolink:NamedThing Costochondral joint sclerosis Abnormal increase in density of the tissue at the costochondral junctions. tmpxe7fu0cj_hp_relaxed.owl Sclerotic costochondral joints UMLS:C4021588 human_phenotype owl:Class GO:0009894 biolink:NamedThing regulation of catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of substances. tmpxe7fu0cj_hp_relaxed.owl regulation of degradation|regulation of catabolism|regulation of breakdown biological_process owl:Class HP:0009268 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 4th finger A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024481 doelkens 2009-01-07T12:12:59Z owl:Class UBERON:0013582 biolink:NamedThing metapodium bone 2 A metapodium bone that is part of a digit 2 plus metapodial segment. tmpxe7fu0cj_hp_relaxed.owl metapodium 2|metapodium II uberon owl:Class UBERON:0010304 biolink:NamedThing non-keratinized stratified squamous epithelium Stratified squamous epithelium is a stratified squamous epithelium, the cells of which synthesizes but does not accumulate keratin. Examples: epithelium of vagina, epithelium of wall of esophagus. tmpxe7fu0cj_hp_relaxed.owl stratified squamous nonkeratinizing epithelium|epithelium stratificatum squamosum noncornificatum|stratified squamous non-keratinized epithelium|nonkeratinizing stratified squamous epithelium FMA:45569 uberon owl:Class HP:0025624 biolink:NamedThing Reduced proportion of CD4+ effector memory T cells An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl Decreased proportion of CD4-positive effector memory T cells|Decreased proportion of CD4+ effector memory T cells|Decreased proportion of effector memory CD4-positive, alpha-beta T cells 2019-04-09 00:13:00+00:00 HPO:probinson HP:0410387 owl:Class GO:1902692 biolink:NamedThing regulation of neuroblast proliferation Any process that modulates the frequency, rate or extent of neuroblast proliferation. tmpxe7fu0cj_hp_relaxed.owl rl 2014-02-18T10:03:31Z biological_process owl:Class GO:0045260 biolink:NamedThing plasma membrane proton-transporting ATP synthase complex A proton-transporting ATP synthase complex found in the plasma membrane. Examples of this component are found in Bacterial species. tmpxe7fu0cj_hp_relaxed.owl proton-transporting ATP synthase complex|plasma membrane hydrogen-translocating F-type ATPase complex|hydrogen-transporting ATP synthase|hydrogen-translocating F-type ATPase complex GO:0045256 cellular_component owl:Class HP:0100149 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the middle bone of the 3rd toe UMLS:C4022272 doelkens 2010-06-24T10:24:13Z human_phenotype owl:Class HP:0003610 biolink:NamedThing Fibroblast metachromasia Increased cytoplasmic staining of fibroblasts with toluidine blue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1835008 Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of glycosaminoglyeans. Histochemical stains such as toluidine blue and Alcian blue can be used to detect such intracellular glycosaminoglycans which, being negatively charged, are bound and precipitated by the cationic dyes. Cultured fibroblasts from homozygotes -and heterozygotes for the genetic mucopolysaccharidoses accumulate excessive quantities of glycosaminoglycans. The cytoplasmic staining with toluidine blue is referred to as metachromasia (pink) and orthochromasia (blue) and that with Alcian blue as alcianophilia. human_phenotype owl:Class HP:0003653 biolink:NamedThing Cellular metachromasia Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025583 This investigation is no longer in common use. human_phenotype owl:Class HP:0011167 biolink:NamedThing Focal tonic seizure A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes. tmpxe7fu0cj_hp_relaxed.owl Focal tonic seizures|Localised tonic seizure|Segmental tonic seizure|Partial tonic seizures|Localized tonic seizure|Partial tonic seizure|Local tonic seizures MSH:D020938|UMLS:C0752324 The abnormal movements of dystonia resulting from co-contraction of agonist and antagonist muscles differentiates these from tonic seizures, see focal dystonic seizure. peter 2011-10-18T02:35:03Z human_phenotype owl:Class HP:0033431 biolink:NamedThing Cytomegalovirus colitis A form of cytomegalovirus infection characterized by infection and inflammation of the colon. tmpxe7fu0cj_hp_relaxed.owl CMV colitis 2021-01-09 17:55:07+00:00 Patients with CMV colitis present with non-specific symptoms, including diarrhea, abdominal pain, fever, rectal bleeding, and weight loss. Hematochezia and diarrhea are the most frequently observed symptoms in these patients. Cytomegalovirus colitis occurs most commonly in immunocompromised hosts, including acquired immunodeficiency syndrome (AIDS), organ transplantation, hematological malignancy, cancer therapy, and corticosteroid therapy. peter owl:Class HP:0033432 biolink:NamedThing Opportunistic viral infection tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 17:57:27+00:00 An infection that is caused by a virus that would generally not be able to cause an infection in a host with a normal immune system. Such viruses take advantage of the opportunity, so to speak, that is provided by a weakened immune system. peter owl:Class NBO:0000754 biolink:NamedThing rapid eye movement sleep phenotype "Observable characteristic of behavior related to the stage in the circadian sleep cycle during which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2012-03-19T11:08:01Z gkoutos behavior_ontology owl:Class HP:0001120 biolink:NamedThing Abnormality of corneal size Any abnormality of the size or morphology of the cornea. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025802 human_phenotype owl:Class CHEBI:63563 biolink:NamedThing oligosaccharide derivative A carbohydrate derivative that is formally obtained from an oligosaccharide. tmpxe7fu0cj_hp_relaxed.owl O-glycosylglycoside derivatives|O-glycosylglycoside derivative|oligosaccharide derivatives chebi_ontology owl:Class CL:1000361 biolink:NamedThing transitional myocyte of interatrial septum A transitional myocyte that is part of the interatrial septum. tmpxe7fu0cj_hp_relaxed.owl FMA:263152 cell owl:Class HP:0030084 biolink:NamedThing Clinodactyly An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). tmpxe7fu0cj_hp_relaxed.owl Permanent curving of the finger|Curvature of digit UMLS:C0265610|SNOMEDCT_US:17268007|UMLS:C4280304 owl:Class HP:0040306 biolink:NamedThing Decreased male libido Reduced desire for sexual activity on the part of a male. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0040307 biolink:NamedThing Male sexual dysfunction A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0012448 biolink:NamedThing Delayed myelination Delayed myelination. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1277241|SNOMEDCT_US:135810007 peter 2013-11-23T03:47:56Z human_phenotype owl:Class HP:0025320 biolink:NamedThing Leakage of dye on fundus fluorescein angiography Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins. tmpxe7fu0cj_hp_relaxed.owl Fluorescein leakage 2017-01-25 14:52:18+00:00 Leakage can be caused by incompetent blood vessels such as with choroidal or diabetic neovascularization. Alternatively, leakage can be associated with a diseased retinal pigment epithelium resulting in leakage of fluorescein from the choroid. HPO:probinson owl:Class UBERON:0015796 biolink:NamedThing liver blood vessel A blood vessel that is part of a liver. tmpxe7fu0cj_hp_relaxed.owl hepatic blood vessel EMAPA:35498|MA:0003137 uberon owl:Class HP:0007529 biolink:NamedThing Hidrotic ectodermal dysplasia tmpxe7fu0cj_hp_relaxed.owl MSH:D004476|UMLS:C0162361|SNOMEDCT_US:54209007 human_phenotype owl:Class HP:0040178 biolink:NamedThing Increased level of platelet-activating factor tmpxe7fu0cj_hp_relaxed.owl Increased level of PAF UMLS:C4073143 HPO:skoehler owl:Class HP:0040177 biolink:NamedThing Abnormal level of platelet-activating factor tmpxe7fu0cj_hp_relaxed.owl Abnormal level of PAF UMLS:C4073142 HPO:skoehler owl:Class UBERON:0035879 biolink:NamedThing frontomaxillary suture A suture between the frontal bone and the frontal process of the maxilla. tmpxe7fu0cj_hp_relaxed.owl sutura frontomaxillaris|frontomaxillary suture of skull FMA:52950 uberon owl:Class GO:0120178 biolink:NamedThing steroid hormone biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0002512 biolink:NamedThing Brain stem compression tmpxe7fu0cj_hp_relaxed.owl UMLS:C0270680|SNOMEDCT_US:25816005|SNOMEDCT_US:5582005 human_phenotype owl:Class GO:0006449 biolink:NamedThing regulation of translational termination Any process that modulates the frequency, rate or extent of translational termination. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0033893 biolink:NamedThing Renal arteriolar lumen organized thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 22:15:03+00:00 peter owl:Class CL:2000068 biolink:NamedThing pericardium fibroblast Any fibroblast that is part of a pericardium. tmpxe7fu0cj_hp_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=6430 TermGenie 2014-10-07T18:38:06Z cell owl:Class GO:0009607 biolink:NamedThing response to biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. tmpxe7fu0cj_hp_relaxed.owl response to biotic stress Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class HP:0025075 biolink:NamedThing Increased QRS voltage Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm). tmpxe7fu0cj_hp_relaxed.owl 2016-09-26 10:48:06+00:00 HPO:probinson owl:Class HP:0025076 biolink:NamedThing Abnormal QRS voltage Abnormal amplitude of the QRS complex of the electrocardiogram (EKG). tmpxe7fu0cj_hp_relaxed.owl 2016-09-26 10:50:26+00:00 HPO:probinson owl:Class UBERON:0012487 biolink:NamedThing vaginal sphincter A sphincter muscle that is part of a vagina. tmpxe7fu0cj_hp_relaxed.owl sphincter of vagina uberon owl:Class BFO:0000020 biolink:NamedThing specifically dependent continuant b is a specifically dependent continuant = Def. b is a continuant & there is some independent continuant c which is not a spatial region and which is such that b s-depends_on c at every time t during the course of b’s existence. (axiom label in BFO2 Reference: [050-003])|A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same. tmpxe7fu0cj_hp_relaxed.owl SpecificallyDependentContinuant sdc Specifically dependent continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. We're not sure what else will develop here, but for example there are questions such as what are promises, obligation, etc. of relational dependent continuants (multiple bearers): John’s love for Mary, the ownership relation between John and this statue, the relation of authority between John and his subordinates.|the disposition of this fish to decay|the mutual dependence of the role predator and the role prey as played by two organisms in a given interaction|the shape of this hole.|the pink color of a medium rare piece of grilled filet mignon at its center|of one-sided specifically dependent continuants: the mass of this tomato|the function of this heart: to pump blood|Reciprocal specifically dependent continuants: the function of this key to open this lock and the mutually dependent disposition of this lock: to be opened by this key|the mutual dependence of proton donors and acceptors in chemical reactions [79|the role of being a doctor|the smell of this portion of mozzarella (iff (SpecificallyDependentContinuant a) (and (Continuant a) (forall (t) (if (existsAt a t) (exists (b) (and (IndependentContinuant b) (not (SpatialRegion b)) (specificallyDependsOnAt a b t))))))) // axiom label in BFO2 CLIF: [050-003] owl:Class HP:0040252 biolink:NamedThing Abnormal size of the clitoris tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280696 owl:Class HP:0033194 biolink:NamedThing Perioral erythema Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth. tmpxe7fu0cj_hp_relaxed.owl 2020-10-10 15:50:36+00:00 peter owl:Class GO:0106121 biolink:NamedThing positive regulation of cobalamin metabolic process Any process that activates or increases the frequency, rate or extent of a cobalamin metabolic process. tmpxe7fu0cj_hp_relaxed.owl hjd 2018-05-01T18:07:12Z biological_process owl:Class HP:0031022 biolink:NamedThing Oropharyngeal squamous papilloma A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus]. tmpxe7fu0cj_hp_relaxed.owl Squamous papilloma of the uvula 2017-05-21 13:15:14+00:00 NCIT:C6038 peter owl:Class HP:0031021 biolink:NamedThing Squamous Papilloma A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus]. tmpxe7fu0cj_hp_relaxed.owl 2017-05-21 13:13:55+00:00 NCIT:C3712 peter owl:Class GO:0030073 biolink:NamedThing insulin secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0011998 biolink:NamedThing Postprandial hyperglycemia An increased concentration of glucose in the blood following a meal. tmpxe7fu0cj_hp_relaxed.owl MSH:D006943|UMLS:C1855520 peter 2012-07-19T12:07:59Z human_phenotype owl:Class HP:0003074 biolink:NamedThing Hyperglycemia An increased concentration of glucose in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood sugar|High blood glucose UMLS:C0020456|MSH:D006943|SNOMEDCT_US:80394007|SNOMEDCT_US:237598005 owl:Class GO:2000690 biolink:NamedThing regulation of cardiac muscle cell myoblast differentiation Any process that modulates the frequency, rate or extent of cardiac muscle cell myoblast differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of cardiac myoblast differentiation|regulation of myocardial precursor cell differentiation yaf 2011-05-25T09:08:01Z biological_process owl:Class HP:0003931 biolink:NamedThing Periosteal new bone of humeral diaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025498 human_phenotype owl:Class CHEBI:33671 biolink:NamedThing heteropolycyclic compound A polycyclic compound in which at least one of the rings contains at least one non-carbon atom. tmpxe7fu0cj_hp_relaxed.owl polyheterocyclic compounds|heteropolycyclic compounds chebi_ontology owl:Class CHEBI:16947 biolink:NamedThing citrate(3-) A tricarboxylic acid trianion, obtained by deprotonation of the three carboxy groups of citric acid. tmpxe7fu0cj_hp_relaxed.owl cit(3-)|2-hydroxytricarballylate|CITRATE ANION|citrate|2-hydroxypropane-1,2,3-tricarboxylate|2-hydroxy-1,2,3-propanetricarboxylate(3-)|2-hydroxy-1,2,3-propanetricarboxylic acid, ion(3-)|cit|2-hydroxy-1,2,3-propanetricarboxylate -3 C6H5O7 InChI=1S/C6H8O7/c7-3(8)1-6(13,5(11)12)2-4(9)10/h13H,1-2H2,(H,7,8)(H,9,10)(H,11,12)/p-3 KRKNYBCHXYNGOX-UHFFFAOYSA-K 189.09970 189.00517 OC(CC([O-])=O)(CC([O-])=O)C([O-])=O PDBeChem:FLC|CAS:126-44-3|KEGG:C00158|Gmelin:4239|Beilstein:1884707|Reaxys:1884707 CHEBI:42563|CHEBI:13999|CHEBI:23321 chebi_ontology owl:Class CHEBI:27092 biolink:NamedThing tricarboxylic acid trianion tmpxe7fu0cj_hp_relaxed.owl tricarboxylic acid trianions|tricarboxylate|tricarboxylates chebi_ontology owl:Class HP:0011273 biolink:NamedThing Anisocytosis Abnormally increased variability in the size of erythrocytes. tmpxe7fu0cj_hp_relaxed.owl Unequal size of red blood cells SNOMEDCT_US:165475005|UMLS:C0221278|SNOMEDCT_US:57241006 peter 2011-12-28T11:58:24Z human_phenotype owl:Class GO:0006875 biolink:NamedThing cellular metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. tmpxe7fu0cj_hp_relaxed.owl cellular heavy metal ion homeostasis biological_process owl:Class HP:0030548 biolink:NamedThing Unaided visual acuity 1.3 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073022 owl:Class HP:0005513 biolink:NamedThing Increased megakaryocyte count Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025187 human_phenotype owl:Class CHEBI:38261 biolink:NamedThing imidazolidines tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class GO:0038187 biolink:NamedThing pattern recognition receptor activity Combining with a pathogen-associated molecular pattern (PAMP), a structure conserved among microbial species to initiate an innate immune response. tmpxe7fu0cj_hp_relaxed.owl pathogen associated molecular pattern receptor activity|signaling pattern recognition receptor activity|PRR|microbe-associated molecular pattern receptor activity|macrophage receptor activity|PAMP receptor activity|MAMP receptor activity|PRR activity https://github.com/geneontology/go-ontology/issues/17995|https://github.com/geneontology/go-ontology/issues/18588 Wikipedia:Pattern_recognition_receptor bf 2013-05-29T15:24:44Z GO:0008329 molecular_function owl:Class GO:0043392 biolink:NamedThing negative regulation of DNA binding Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). tmpxe7fu0cj_hp_relaxed.owl down regulation of DNA binding|inhibition of DNA binding|down-regulation of DNA binding|downregulation of DNA binding biological_process owl:Class CHEBI:52090 biolink:NamedThing methoxide An organic anion that is the conjugate base of methanol. tmpxe7fu0cj_hp_relaxed.owl methoxide ion -1 CH3O InChI=1S/CH3O/c1-2/h1H3/q-1 NBTOZLQBSIZIKS-UHFFFAOYSA-N 31.03390 31.01894 C[O-] Reaxys:1839368 chebi_ontology owl:Class CL:1000306 biolink:NamedThing fibroblast of tunica adventitia of artery A fibroblast that is part of the tunica adventitia of artery. tmpxe7fu0cj_hp_relaxed.owl FMA:261285 cell owl:Class HP:0000166 biolink:NamedThing Severe periodontitis A severe form of periodontitis. tmpxe7fu0cj_hp_relaxed.owl Severe periodontal disease|Severe pyorrhea|Severe gum disease UMLS:C4025886 human_phenotype owl:Class HP:0009203 biolink:NamedThing Absent epiphysis of the middle phalanx of the 5th finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Absent end part of the middle bone of the pinkie finger|Absent end part of the middle bone of the little finger|Absent end part of the middle bone of the pinky finger UMLS:C4024537 doelkens 2009-01-05T05:22:18Z human_phenotype owl:Class GO:0001843 biolink:NamedThing neural tube closure The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0060606 biolink:NamedThing tube closure Creation of the central hole of a tube in an anatomical structure by sealing the edges of an epithelial fold. tmpxe7fu0cj_hp_relaxed.owl dph 2009-05-15T09:44:07Z biological_process owl:Class GO:0035809 biolink:NamedThing regulation of urine volume tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0430013 biolink:NamedThing Absent palatine bone ossification Lack of formation of the palatine bone. tmpxe7fu0cj_hp_relaxed.owl Absence of palatine bone mineralization|Absence of palatine bone calcification|Absence of palatine bone formation UMLS:C4021867 owl:Class HP:0430003 biolink:NamedThing Abnormality of the palatine bone An abnormality of the palatine bone. tmpxe7fu0cj_hp_relaxed.owl Malformation of the palatine bone|Deformity of the palatine bone|Anomaly of the palatine bone UMLS:C4021871 owl:Class HP:0007892 biolink:NamedThing Hypoplasia of the lacrimal punctum Underdevelopment of the lacrimal puncta. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic lacrimal puncta|Hypoplasia of the lacrimal puncta UMLS:C4021564 human_phenotype owl:Class UBERON:0007260 biolink:NamedThing intervertebral disk of third cervical vertebra An intervertebral disk that connects a mammalian cervical vertebra 3 and connects a mammalian cervical vertebra 4. tmpxe7fu0cj_hp_relaxed.owl C3 intervertebral disk|intervertebral disk, C3-C4 EMAPA:19422|FMA:13896 uberon owl:Class HP:0033026 biolink:NamedThing White oral mucosal macule A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033284 biolink:NamedThing Diffusely thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 20:36:30+00:00 peter owl:Class HP:0033600 biolink:NamedThing Fibrillary glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 14:47:50+00:00 peter owl:Class HP:0033598 biolink:NamedThing Fibrillar glomerular subepithelial deposits Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 14:16:36+00:00 peter owl:Class HP:0000612 biolink:NamedThing Iris coloboma A coloboma of the iris. tmpxe7fu0cj_hp_relaxed.owl Cat eye|Keyhole iris|Coloboma of iris|Coloboma of the iris UMLS:C0240063 HP:0007748|HP:0007744 human_phenotype owl:Class CHEBI:7896 biolink:NamedThing hexadecanoate A long-chain fatty acid anion that is the conjugate base of hexadecanoic acid (palmitic acid); major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl Hexadecanoic acid, ion(1-)|hexadecanoate|n-hexadecoate|n-hexadecanoate|(16:0)|palmitate|1-pentadecanecarboxylate|CH3-[CH2]14-COO(-)|1-hexyldecanoate|pentadecanecarboxylate -1 C16H31O2 InChI=1S/C16H32O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16(17)18/h2-15H2,1H3,(H,17,18)/p-1 IPCSVZSSVZVIGE-UHFFFAOYSA-M 255.41610 255.23295 CCCCCCCCCCCCCCCC([O-])=O MetaCyc:PALMITATE|Gmelin:344266|Beilstein:3589907|Reaxys:3589907|CAS:143-20-4|HMDB:HMDB0000220 CHEBI:231736 chebi_ontology owl:Class HP:0006283 biolink:NamedThing Multiple unerupted teeth The presence of multiple embedded tooth germs which have failed to erupt. tmpxe7fu0cj_hp_relaxed.owl Multiple unerupted teeth|Failure of eruption of multiple teeth|Multiple non-erupting teeth UMLS:C4025069 human_phenotype owl:Class HP:0011953 biolink:NamedThing Pulmonary lymphoma Lung parenchymal involvement with lymphoma. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0519063 peter 2012-06-21T08:45:48Z human_phenotype owl:Class HP:0025291 biolink:NamedThing Lower-body predominance Applies to an abnormality that affects the legs more than the arms, trunk, head. tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 16:12:27+00:00 HPO:probinson owl:Class HP:0031205 biolink:NamedThing Reduced lysosomal acid lipase activity Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins. tmpxe7fu0cj_hp_relaxed.owl Reduced leukocyte acid lipase activity 2017-06-29 11:32:13+00:00 Samples from patients with Wolman Disease display extremely low or unmeasurable levels of lysosomal acid lipase (LAL) activity. Samples from patients with cholesteryl ester storage disease can display residual activities in the 5 to ten percent range. peter owl:Class HP:0033166 biolink:NamedThing Recurrent viral upper respiratory tract infections An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis). tmpxe7fu0cj_hp_relaxed.owl 2020-09-24 09:36:07+00:00 peter owl:Class GO:0045670 biolink:NamedThing regulation of osteoclast differentiation Any process that modulates the frequency, rate or extent of osteoclast differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100510 biolink:NamedThing Low levels of vitamin C A reduced concentration of Vitamin C. tmpxe7fu0cj_hp_relaxed.owl Vitamin C deficiency SNOMEDCT_US:76169001|UMLS:C0003969|MSH:D001206 doelkens 2010-12-17T06:18:50Z human_phenotype owl:Class HP:0006175 biolink:NamedThing Proximal phalangeal periosteal thickening tmpxe7fu0cj_hp_relaxed.owl Thickening of connective tissue of innermost finger bone UMLS:C4280463|UMLS:C1834348 human_phenotype owl:Class HP:0500263 biolink:NamedThing Abnormal helper T cell proportion Abnormal proportion of helper T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal proportion of circulating T-helper cells 2020-05-15 19:15:28+00:00 owl:Class HP:0005198 biolink:NamedThing Stiff interphalangeal joints Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity. tmpxe7fu0cj_hp_relaxed.owl Stiff hinge joints UMLS:C4025237 human_phenotype owl:Class GO:2000401 biolink:NamedThing regulation of lymphocyte migration Any process that modulates the frequency, rate or extent of lymphocyte migration. tmpxe7fu0cj_hp_relaxed.owl mah 2011-02-23T10:45:19Z biological_process owl:Class HP:0032111 biolink:NamedThing Abnormal Vistech contrast sensitivity test An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test. tmpxe7fu0cj_hp_relaxed.owl 2018-11-17 14:23:03+00:00 peter owl:Class HP:0033772 biolink:NamedThing Abnormal RV/TLC ratio Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography. tmpxe7fu0cj_hp_relaxed.owl 2021-05-01 15:42:55+00:00 peter owl:Class HP:0500230 biolink:NamedThing Increased CSF glycine concentration Abnormally increased levels of glycine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High glycine levels in cerebrospinal fluid 2019-02-25 20:40:30+00:00 owl:Class HP:0500229 biolink:NamedThing Abnormal CSF glycine concentration Any deviation from the normal concentration of glycine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal glycine levels in cerebrospinal fluid 2019-02-25 20:40:09+00:00 owl:Class HP:0030777 biolink:NamedThing Modic type II vertebral endplate changes An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl Modic type 2 vertebral endplate changes UMLS:C4280776 owl:Class HP:0032350 biolink:NamedThing Sulfocysteinuria A increased concentration of sulfocysteine in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-02-23 16:43:08+00:00 peter owl:Class CHEBI:50903 biolink:NamedThing carcinogenic agent A role played by a chemical compound which is known to induce a process of carcinogenesis by corrupting normal cellular pathways, leading to the acquistion of tumoral capabilities. tmpxe7fu0cj_hp_relaxed.owl carcinogen|cancerogene|carcinogens|cancerigene|carcinogenic agents|carcinogeno|carcinogene|agente carcinogeno chebi_ontology owl:Class HP:0000212 biolink:NamedThing Gingival overgrowth Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. tmpxe7fu0cj_hp_relaxed.owl Gum hypertrophy|Gum enlargement|Gingival hyperplasia|Hypertrophic gingivitis|Oral soft tissue hyperplasia|Gingival enlargement SNOMEDCT_US:441798003|MSH:D005885|SNOMEDCT_US:441787004|MSH:D019214|SNOMEDCT_US:54711002|MSH:D005886|UMLS:C0017567|UMLS:C0376480|UMLS:C0017566 This finding is to be distinguished from overgrowth of the alveolar ridge. HP:0000195 human_phenotype owl:Class HP:0100504 biolink:NamedThing Low levels of vitamin B2 A reduced concentration of vitamin B2. tmpxe7fu0cj_hp_relaxed.owl Vitamin B2 deficiency|Riboflavin deficiency MSH:D012257|SNOMEDCT_US:20307000|UMLS:C0035528 doelkens 2010-12-17T06:13:04Z human_phenotype owl:Class HP:0004340 biolink:NamedThing Abnormality of vitamin B metabolism tmpxe7fu0cj_hp_relaxed.owl Abnormality of B-vitamin metabolism UMLS:C4021659 peter 2008-03-08T08:08:00Z human_phenotype owl:Class HP:0009615 biolink:NamedThing Complete duplication of the first metacarpal Complete duplication of the first metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the first long bone of hand UMLS:C4024271 In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin, equivalent to the proximal phalanges of the other digits. This term applies if the first metacarpal is completely duplicated. On x-ray two separate metacarpal bones appear side to side. This term applies if the first metacarpal is completely duplicated. doelkens 2009-01-29T04:06:17Z human_phenotype owl:Class UBERON:0002707 biolink:NamedThing corticospinal tract The corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract. tmpxe7fu0cj_hp_relaxed.owl fasciculus pyramidalis|pyramidal tract|pyramid (Willis)|tractus corticospinalis|tractus cortico-spinalis|fibrae corticospinales|corticospinal fibers|fasciculus cerebro-spinalis|tractus pyramidalis FMA:72634|GAID:702|BM:CST|MBA:190|BAMS:P|BM:Me-PyT|EMAPA:36600|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=800|MESH:D011712|MBA:784|DHBA:12776|UMLS:C0034229|DMBA:17756|HBA:265505574|BIRNLEX:1464 http://upload.wikimedia.org/wikipedia/commons/a/ac/Gray684.png UBERON:0004095 uberon owl:Class HP:0009144 biolink:NamedThing Supernumerary bones of the axial skeleton tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024573 peter 2008-05-02T01:29:00Z human_phenotype owl:Class HP:0031320 biolink:NamedThing Cardiomyocyte mitochondrial proliferation An abnormal increase in the number of mitochondria per cardiac myocyte. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 12:02:57+00:00 peter owl:Class GO:0006112 biolink:NamedThing energy reserve metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0007346 biolink:NamedThing Subcortical white matter calcifications tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851430 ORCID:0000-0002-5316-1399 owl:Class HP:0011813 biolink:NamedThing Increased cerebral lipofuscin Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023177 peter 2012-04-28T03:17:57Z owl:Class HP:0003053 biolink:NamedThing Epiphyseal deformities of tubular bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C1854786 human_phenotype owl:Class UBERON:0010096 biolink:NamedThing future myelencephalon A developing anatomical structure that has the potential to develop into a myelencephalon. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000640 uberon owl:Class CHEBI:35472 biolink:NamedThing anti-inflammatory drug A substance that reduces or suppresses inflammation. tmpxe7fu0cj_hp_relaxed.owl antiinflammatory drugs|anti-inflammatory drugs|antiinflammatory drug|antiinflammatory agent chebi_ontology owl:Class CHEBI:67079 biolink:NamedThing anti-inflammatory agent Any compound that has anti-inflammatory effects. tmpxe7fu0cj_hp_relaxed.owl antiinflammatory agents|antiinflammatory agent|anti-inflammatory agents chebi_ontology owl:Class HP:0032780 biolink:NamedThing Focal impaired awareness autonomic seizure with erection A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0001829 biolink:NamedThing Foot polydactyly A kind of polydactyly characterized by the presence of a supernumerary toe or toes. tmpxe7fu0cj_hp_relaxed.owl Polydactyly of the foot|Duplication of bones of the toes|Polydactyly of feet UMLS:C0158734|SNOMEDCT_US:62218008 HP:0009135 human_phenotype owl:Class HP:0005650 biolink:NamedThing 2-5 finger cutaneous syndactyly A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. tmpxe7fu0cj_hp_relaxed.owl Cutaneous syndactyly between fingers 2 and 5 UMLS:C4025165 owl:Class GO:0032790 biolink:NamedThing ribosome disassembly The disaggregation of a ribosome into its constituent components; includes the dissociation of ribosomal subunits. tmpxe7fu0cj_hp_relaxed.owl ribosome dissociation factor|ribosome recycling biological_process owl:Class HP:0008327 biolink:NamedThing Microscopic nephrocalcinosis The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0403474|SNOMEDCT_US:236444003 The qualifier microscopic is used to indicate that the nephrocalcinosis cannot be observed on visual or radiologic examination without further magnification (as can macroscopic nephrocalcinosis). human_phenotype owl:Class HP:0030072 biolink:NamedThing Paranasal sinus neoplasm A tumor that originates in the paranasal sinus. tmpxe7fu0cj_hp_relaxed.owl Neoplasm of the paranasal sinuses|Tumor of the paranasal sinuses|Tumour of the paranasal sinuses NCIT:C3262|UMLS:C0030470|SNOMEDCT_US:126675008|MSH:D010255 owl:Class GO:0042752 biolink:NamedThing regulation of circadian rhythm Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0001848 biolink:NamedThing Calcaneovalgus deformity This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus). tmpxe7fu0cj_hp_relaxed.owl Valgus position of the calcaneus|Calcaneovalgus|Foot and ankle bend up toward shin of leg|Calcaneovalgus Foot UMLS:C1860450 Calcaneovalgus deformity may be related to abnormal positioning of the foot in utero and can resolve spontaneously after birth. HP:0001774|HP:0008120 human_phenotype owl:Class HP:0007427 biolink:NamedThing Reticulated skin pigmentation tmpxe7fu0cj_hp_relaxed.owl Reticular pigmentation pattern|Reticulate skin pigmentation UMLS:C3279575|UMLS:C3279601 human_phenotype owl:Class HP:0001593 biolink:NamedThing Maxillary lateral incisor microdontia Decreased size of the maxillary permanent incisor. tmpxe7fu0cj_hp_relaxed.owl Small maxillary lateral incisor|Hypotrophic upper lateral incisor|Decreased size of upper lateral incisor|Decreased size of maxillary lateral incisor|Hypotrophic maxillary lateral incisor|Small upper lateral incisor|Decreased width of upper lateral incisor UMLS:C4280589|UMLS:C1845111|UMLS:C4280588 owl:Class CHEBI:22323 biolink:NamedThing alkyl group A univalent group -CnH2n+1 derived from an alkane by removal of a hydrogen atom from any carbon atom. tmpxe7fu0cj_hp_relaxed.owl groupe alkyle|alkyl group|grupos alquilo|alkyl groups|grupo alquilo chebi_ontology owl:Class HP:0032370 biolink:NamedThing Blood group A ABO phenotype A, corresponding to the genotype AO or AA. tmpxe7fu0cj_hp_relaxed.owl 2019-02-23 18:59:31+00:00 peter owl:Class CHEBI:144637 biolink:NamedThing 4-hydroxy-D-proline The D-stereoisomer of 4-hydroxyproline. tmpxe7fu0cj_hp_relaxed.owl (2R)-4-hydroxypyrrolidine-2-carboxylic acid|4-hydroxy-D-Pro|4-hydroxy-D-proline|4-OH-D-Pro 0 C5H9NO3 InChI=1S/C5H9NO3/c7-3-1-4(5(8)9)6-2-3/h3-4,6-7H,1-2H2,(H,8,9)/t3?,4-/m1/s1 PMMYEEVYMWASQN-SRBOSORUSA-N 131.131 131.05824 [C@@H]1(CC(O)CN1)C(O)=O chebi_ontology owl:Class GO:0031645 biolink:NamedThing negative regulation of nervous system process Any process that stops, prevents, or reduces the frequency, rate or extent of a neurophysiological process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of neurophysiological process|negative regulation of neurological system process|negative regulation of neurological process|down-regulation of neurological process|downregulation of neurological process|down regulation of neurological process|inhibition of neurological process biological_process owl:Class HP:0001088 biolink:NamedThing Brushfield spots The presence of whitish spots in a ring-like arrangement at the periphery of the iris. tmpxe7fu0cj_hp_relaxed.owl Speckled iris|Iris brushfield spots SNOMEDCT_US:400960002|UMLS:C1303007|UMLS:C4280604 Brushfield spots are relatively common in the general population but opccur more frequently in persons with certain disorders (especially Down syndrome). human_phenotype owl:Class HP:0012708 biolink:NamedThing Reduced brain N-acetyl aspartate level by MRS A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy UMLS:C4022761 N-Acetyl Aspartate (NAA) is an amino acid found exclusively in neurons. It is regarded as a non-specific marker and is thought to be involved in Coenzyme A interactions and lipogenesis within the brain. It is a marker of neuronal viability. Normal NAA concentration is in the range of 8-9 mmol/kg in healthy adult brain. Concentrations are decreased in conditions leading to axonal injury or neuronal loss. NAA is also decreased in other conditions such as neoplasm, infarction, and inflammatory conditions such as multiple sclerosis. NAA peak is seen at 2.0 ppm (parts per million) on MR spectra. peter 2014-03-22T08:09:12Z human_phenotype owl:Class HP:0025052 biolink:NamedThing Abnormal brain N-acetyl aspartate level by MRS A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy 2016-09-26 08:50:52+00:00 HPO:probinson owl:Class HP:0003560 biolink:NamedThing Muscular dystrophy The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. tmpxe7fu0cj_hp_relaxed.owl Muscle biopsy shows dystrophic changes SNOMEDCT_US:73297009|UMLS:C1864711|UMLS:C0026850|MSH:D009136|SNOMEDCT_US:193225000 Muscular dystrophy can be demonstrated by muscle biopsy. HP:0003806|HP:0003544 human_phenotype owl:Class HP:0009709 biolink:NamedThing Increased CSF interferon alpha Increased concentration of interferon alpha in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856983 peter 2009-01-30T06:27:06Z human_phenotype owl:Class HP:0012493 biolink:NamedThing Middle cerebral artery stenosis Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:21290001000004104|UMLS:C1504568 peter 2013-11-30T08:04:27Z human_phenotype owl:Class HP:0012492 biolink:NamedThing Cerebral artery stenosis Narrowing or constriction of the inner surface (lumen) of a cerebral artery. tmpxe7fu0cj_hp_relaxed.owl Narrowing of a cerebral artery UMLS:C1504438 peter 2013-11-30T08:00:55Z human_phenotype owl:Class HP:0011209 biolink:NamedThing EEG with generalized slow activity grade 4 EEG without electrical activity. tmpxe7fu0cj_hp_relaxed.owl EEG with generalised slow activity grade 4|Flat line EEG UMLS:C4021198 peter 2011-11-19T12:46:05Z human_phenotype owl:Class CHEBI:51061 biolink:NamedThing hormone receptor modulator A drug that modulates the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites. tmpxe7fu0cj_hp_relaxed.owl hormone receptor modulators chebi_ontology owl:Class HP:0031025 biolink:NamedThing Gastric leiomyosarcoma A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible. tmpxe7fu0cj_hp_relaxed.owl 2017-05-21 13:42:26+00:00 Gastric leiomyosarcomas are often clinically silent until they reach a large size, bleed or rupture. Thus, the diagnosis is rarely made preoperatively. Since in many cases the mucosa is normal, a definitive diagnosis for resectable tumour is often made after surgery. Seeding of tumour deposits into the serosa or omentum is almost invariably a sign of malignancy. peter owl:Class HP:0031161 biolink:NamedThing Reduced brain glutamate level by MRS An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl 2017-06-18 17:37:40+00:00 peter owl:Class GO:0048246 biolink:NamedThing macrophage chemotaxis The movement of a macrophage in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0002199 biolink:NamedThing Hypocalcemic seizures tmpxe7fu0cj_hp_relaxed.owl Low calcium seizures|Seizures due to hypocalcemia UMLS:C1855841 human_phenotype owl:Class HP:0011145 biolink:NamedThing Symptomatic seizures A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023516 While all patients with epilepsy experience seizures, not all individuals with seizures have epilepsy. One or more epileptic seizures may occur in the context of a brain insult (systemic, toxic, or metabolic). These events (defined acute symptomatic seizures, provoked seizures, or situation-related seizures) are presumed to be an acute manifestation of the insult and may not recur when the underlying cause has been removed or the acute phase has elapsed. peter 2011-10-18T01:40:33Z human_phenotype owl:Class HP:0011859 biolink:NamedThing Punctate keratitis A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:416300008|UMLS:C1562761 hecht 2012-05-21T12:18:03Z human_phenotype owl:Class HP:0000491 biolink:NamedThing Keratitis Inflammation of the cornea. tmpxe7fu0cj_hp_relaxed.owl Corneal inflammation UMLS:C0022568|MSH:D007634|SNOMEDCT_US:5888003 human_phenotype owl:Class CL:0000990 biolink:NamedThing conventional dendritic cell Conventional dendritic cell is a dendritic cell that is CD11c-high. tmpxe7fu0cj_hp_relaxed.owl veiled cell|interdigitating cell|cDC|DC1|type 1 DC|dendritic reticular cell FMA:84191 Originally described in the dendritic cell ontology (DC_CL:0000003)(PMID:19243617) These cells are also CD20-negative, MHCII-positive. cell owl:Class HP:0010072 biolink:NamedThing Patchy sclerosis of the 1st metatarsal tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density of the 1st long bone of foot UMLS:C4024072 doelkens 2009-05-29T12:13:57Z human_phenotype owl:Class HP:0031959 biolink:NamedThing Leg dystonia A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs. tmpxe7fu0cj_hp_relaxed.owl 2018-07-07 14:23:39+00:00 peter owl:Class HP:0002451 biolink:NamedThing Limb dystonia A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. tmpxe7fu0cj_hp_relaxed.owl MSH:D004421|UMLS:C0751093 human_phenotype owl:Class HP:0033884 biolink:NamedThing Abnormal cortical radial artery lumen morphology Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney. tmpxe7fu0cj_hp_relaxed.owl Abnormal interlobular arterial lumen morphology 2021-06-23 20:01:14+00:00 peter owl:Class HP:0025662 biolink:NamedThing Abnormal fetal skeletal morphology An anomlous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class GO:0060928 biolink:NamedThing atrioventricular node cell development The process whose specific outcome is the progression of an atrioventricular (AV) node cell over time, from its formation to the mature state. tmpxe7fu0cj_hp_relaxed.owl AV node cell development dph 2009-09-29T11:59:26Z biological_process owl:Class HP:0002850 biolink:NamedThing Decreased circulating total IgM An abnormally decreased level of immunoglobulin M (IgM) in blood. tmpxe7fu0cj_hp_relaxed.owl IgM deficiency|Decreased IgM level|Reduced IgM levels|Decreased IgM UMLS:C0239989 HP:0003147|HP:0005385 human_phenotype owl:Class GO:1904491 biolink:NamedThing protein localization to ciliary transition zone A process in which a protein is transported to, or maintained in, a location within a ciliary transition zone. tmpxe7fu0cj_hp_relaxed.owl protein localisation to ciliary transition zone|protein localization in ciliary transition zone|protein localisation in ciliary transition zone kmv 2015-07-17T20:43:21Z biological_process owl:Class HP:0007840 biolink:NamedThing Long upper eyelashes Increased length of the upper eyelashes. tmpxe7fu0cj_hp_relaxed.owl Ciliary trichomegaly of upper eyelashes|Long upper eyelashes|Increased length of upper eyelashes UMLS:C4024785 human_phenotype owl:Class HP:0040051 biolink:NamedThing Abnormality of upper eyelashes tmpxe7fu0cj_hp_relaxed.owl Abnormality of upper eyelashes UMLS:C4022467 HPO:skoehler owl:Class HP:0012459 biolink:NamedThing Hypnic headache A headache disorder that occurs exclusively at night, waking the affected individual from sleep. tmpxe7fu0cj_hp_relaxed.owl Alarm clock headache MSH:D051270|SNOMEDCT_US:122711000119109|UMLS:C0752150 Hypnic headache can be unilateral or bilateral, and is often but not always described as throbbing. The pain begins abruptly and can last from 15 minutes to 6 hours, although typically it is about 30-60 minutes. peter 2013-11-24T11:20:18Z human_phenotype owl:Class HP:0100876 biolink:NamedThing Infra-orbital crease Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma. tmpxe7fu0cj_hp_relaxed.owl Infraorbital crease|Groove in skin under the eye|Underorbital skin creases|Crease in skin under the eye|Infraorbital creases UMLS:C1857280 This feature is often found in the presence of hypoplasia of the malar process of the maxilla or zygoma, but should be coded separately. doelkens 2011-12-01T02:21:22Z HP:0007796 human_phenotype owl:Class GO:0010611 biolink:NamedThing regulation of cardiac muscle hypertrophy Any process that modulates the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0014743 biolink:NamedThing regulation of muscle hypertrophy Any process that modulates the frequency, rate or extent of muscle hypertrophy. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0041059 biolink:NamedThing Chronic (near) absent circulating IgG4 A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured. tmpxe7fu0cj_hp_relaxed.owl Chronic (near) absent IgG4 in blood owl:Class HP:0041058 biolink:NamedThing Chronic decreased circulating IgG4 A lasting decrease of immunoglobulin G4 (IgG4) in the blood. tmpxe7fu0cj_hp_relaxed.owl Chronic decreased IgG4 in blood owl:Class HP:0032666 biolink:NamedThing Hyperkinetic status epilepticus Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements. tmpxe7fu0cj_hp_relaxed.owl In 2015 the ILAE classified hyperkinetic status epilepticus separately from focal motor status epilepticus characterized by elemental motor features. Awareness may be intact or impaired. peter owl:Class HP:0011232 biolink:NamedThing Infra-orbital fold Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge. tmpxe7fu0cj_hp_relaxed.owl Infraorbital fold|Dennie-Morgan fold UMLS:C4023449 This term excludes epicanthus inversus. peter 2011-12-14T07:00:48Z human_phenotype owl:Class HP:0032385 biolink:NamedThing Abnormal circulating transferrin concentration Any deviation from the normal concentration of transferrin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating transferrin level 2019-02-24 15:33:47+00:00 peter owl:Class UBERON:0036217 biolink:NamedThing coelomic fluid A bodily fluid that is located in the coelom. tmpxe7fu0cj_hp_relaxed.owl BTO:0001708 uberon owl:Class he coelomic fluid serves several functions; it acts as a hydroskeleton, it allows free movement and growth of internal organs, it serves for transport of gases, nutrients and waste products between different parts of the body, it allows storage of sperm and eggs during maturation and it acts as a reservoir for waste [Wikipedia:Coelom#Coelomic_fluid] PR:000010379 biolink:NamedThing alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase A protein that is a translation product of the human MGAT2 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl GNT-II|mannoside acetylglucosaminyltransferase 2|beta-1,2-N-acetylglucosaminyltransferase II|N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II|GlcNAc-T II|MGAT2 Category=gene. protein owl:Class UBERON:0000118 biolink:NamedThing lung bud Structure derived from foregut that becomes a lung[GO]. tmpxe7fu0cj_hp_relaxed.owl gemma respiratoria|primary lung bud|gemma pulmonalis|lung bud|respiratory diverticulum NCIT:C34260|SCTID:361427007|BTO:0001643|NCIT:C34282|Wikipedia:Respiratory_bud|UMLS:C1514420|UMLS:C1514897|EHDAA2:0004089 http://upload.wikimedia.org/wikipedia/commons/7/71/Gray948.png clarify successors - include bronchi? uberon owl:Class GO:1904349 biolink:NamedThing positive regulation of small intestine smooth muscle contraction Any process that activates or increases the frequency, rate or extent of small intestine smooth muscle contraction. tmpxe7fu0cj_hp_relaxed.owl up-regulation of small intestine smooth muscle contraction|up regulation of small intestine smooth muscle contraction|upregulation of small intestine smooth muscle contraction|activation of small intestine smooth muscle contraction sl 2015-06-11T21:37:46Z biological_process owl:Class HP:0004836 biolink:NamedThing Acute promyelocytic leukemia A type of acute myeloid leukemia in which abnormal promyelocytes predominate. tmpxe7fu0cj_hp_relaxed.owl Acute promyelocytic leukaemia SNOMEDCT_US:110004001|UMLS:C0023487|MSH:D015473|SNOMEDCT_US:28950004 human_phenotype owl:Class HP:0040325 biolink:NamedThing Bull's eye rash A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings. tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-5316-1399 owl:Class HP:0041159 biolink:NamedThing Fractured rib A partial or complete breakage of the rib. tmpxe7fu0cj_hp_relaxed.owl bone rib owl:Class HP:0045082 biolink:NamedThing Decreased body mass index Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages. tmpxe7fu0cj_hp_relaxed.owl Decreased BMI owl:Class HP:0045081 biolink:NamedThing Abnormality of body mass index Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages. tmpxe7fu0cj_hp_relaxed.owl Abnormal BMI|Abnormal body mass index owl:Class HP:0008060 biolink:NamedThing Aplasia/Hypoplasia of the fovea Congenital absence or underdevelopment of the fovea centralis. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped fovea UMLS:C4024741 peter 2008-04-02T03:30:00Z human_phenotype owl:Class UBERON:0010309 biolink:NamedThing palpebral bone An ossified element investing the upper eyelid. tmpxe7fu0cj_hp_relaxed.owl palpebral PMID:16496288 says 'invests' the eyelid, is this consistent across taxa? uberon owl:Class The most extreme development of the palpebral is found in the armored dino- saur Euoplocephalus tutus, where the bone forms a quarter-sphere and adducts to completely occlude the or- bit (Coombs, 1972; Vickaryous and Russell, 2003). Notwithstanding the superficially similar position, palpe- brals and tarsal plates differ both anatomically and developmentally and are not considered homologous (Gauthier et al., 1988) HP:0012033 biolink:NamedThing Sacral lipoma Presence of a lipoma in the region of the sacrum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021835 peter 2012-07-27T01:37:57Z human_phenotype owl:Class HP:0025252 biolink:NamedThing Geographic tongue An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map. tmpxe7fu0cj_hp_relaxed.owl Benign migratory glossitis|Glossitis areata exfoliativa|Lingual erythema migrans|Annulus migrans|Wandering rash of the tongue 2016-12-17 14:09:31+00:00 HPO:probinson owl:Class HP:0011064 biolink:NamedThing Abnormal number of incisors The presence of an altered number of the incisor teeth. tmpxe7fu0cj_hp_relaxed.owl Abnormal number of incisors|Abnormal number of front teeth UMLS:C4023554 peter 2011-03-10T02:09:16Z human_phenotype owl:Class UBERON:0009752 biolink:NamedThing pancreas mesenchyme The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing pancreas. tmpxe7fu0cj_hp_relaxed.owl EFO:0002557|EMAPA:26220 uberon owl:Class HP:0031415 biolink:NamedThing High serum calcitriol An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. tmpxe7fu0cj_hp_relaxed.owl High serum 1,25-dihydroxycholecalciferol|High serum 1,25-dihydroxyvitamin D3|Increased serum calcitriol|Increased serum 1,25-dihydroxyvitamin D3 2017-09-12 01:53:03+00:00 UMLS:C1833331 peter HP:0003152 owl:Class PATO:0001561 biolink:NamedThing having extra processual parts A quality of a process inhering in a bearer by virtue of the bearer's having additional processual parts. tmpxe7fu0cj_hp_relaxed.owl having supernumerary processual parts quality owl:Class HP:0030545 biolink:NamedThing Unaided visual acuity 1.0 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073019 owl:Class HP:0010446 biolink:NamedThing Tricuspid stenosis A narrowing of the orifice of the tricuspid valve of the heart. tmpxe7fu0cj_hp_relaxed.owl EPCC:06.01.92|MSH:D014264|ICD-10:Q22.4|SNOMEDCT_US:49915006|UMLS:C0040963 Tricuspid stenosis results in characteristic changes in the jugular venous pulse in the form of leisurely V to Y descent and prominent a-waves. The liver is enlarged with a firm edge and is pulsatile in presystole. This is best appreciated with one hand on the liver edge and one on the precordium. Auscultation reveals a low- to medium-pitched diastolic rumble with inspiratory accentuation. This is usually localized to the lower sternal border. peter 2009-09-14T10:10:10Z owl:Class HP:0031651 biolink:NamedThing Abnormal tricuspid valve physiology Any functional defect of the tricuspid valve. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 15:19:13+00:00 peter owl:Class GO:1904206 biolink:NamedThing positive regulation of skeletal muscle hypertrophy Any process that activates or increases the frequency, rate or extent of skeletal muscle hypertrophy. tmpxe7fu0cj_hp_relaxed.owl up-regulation of skeletal muscle hypertrophy|upregulation of skeletal muscle hypertrophy|up regulation of skeletal muscle hypertrophy|activation of skeletal muscle hypertrophy sl 2015-05-08T17:38:25Z biological_process owl:Class GO:0016667 biolink:NamedThing oxidoreductase activity, acting on a sulfur group of donors Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpxe7fu0cj_hp_relaxed.owl oxidoreductase activity, acting on sulphur group of donors|oxidoreductase activity, acting on sulfur group of donors, other acceptors EC:1.8.-.-|Reactome:R-HSA-2213240 molecular_function owl:Class HP:0007462 biolink:NamedThing Bitot spots of the conjunctiva Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot. tmpxe7fu0cj_hp_relaxed.owl Bitot's spots SNOMEDCT_US:246871006|UMLS:C0423178|UMLS:C4024868 Bitot spots can be a feature of vitamin A deficiency. human_phenotype owl:Class UBERON:0035401 biolink:NamedThing posterior wall of nasopharynx tmpxe7fu0cj_hp_relaxed.owl posterior nasopharynx FMA:54907|NCIT:C12243 uberon owl:Class HP:0009276 biolink:NamedThing Contracture of the proximal interphalangeal joint of the 4th finger Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. tmpxe7fu0cj_hp_relaxed.owl 4th finger camptodactyly|Camptodactyly of the ring finger|Camptodactyly of the 4th finger UMLS:C4021503 doelkens 2009-01-07T04:10:39Z HP:0005845 human_phenotype owl:Class HP:0003337 biolink:NamedThing Reduced prothrombin consumption The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia. tmpxe7fu0cj_hp_relaxed.owl Poor prothrombin consumption UMLS:C4021732 HP:0008172 human_phenotype owl:Class HP:0200012 biolink:NamedThing Short corpus callosum tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021902 sebastiankohler 2010-06-09T11:52:21Z human_phenotype owl:Class GO:0070663 biolink:NamedThing regulation of leukocyte proliferation Any process that modulates the frequency, rate or extent of leukocyte proliferation. tmpxe7fu0cj_hp_relaxed.owl mah 2009-05-28T05:30:39Z biological_process owl:Class HP:0011530 biolink:NamedThing Retinal hole A small break in the retina. tmpxe7fu0cj_hp_relaxed.owl Retinal holes SNOMEDCT_US:302888003|MSH:D012167|SNOMEDCT_US:232003005|SNOMEDCT_US:95690009|SNOMEDCT_US:40024006|UMLS:C0035321 A retinal hole can be asymptomatic or can lead to the sudden appearance of many floaters or flashes, blurry, or wavy vision, or of a a dark shadow or curtain in the peripheral visual field. peter 2012-04-06T09:39:01Z human_phenotype owl:Class HP:0011958 biolink:NamedThing Retinal perforation A small hole through the whole thickness of the retina. tmpxe7fu0cj_hp_relaxed.owl Torn retina|Retinal tear SNOMEDCT_US:302888003|MSH:D012167|SNOMEDCT_US:95690009|SNOMEDCT_US:40024006|UMLS:C0035321|SNOMEDCT_US:232003005 Retinal perforations can be cause by inflammation, trauma, degeneration, or other factors, and comprise retinal breaks, tears, dialyses, and holes. hecht 2012-07-07T11:24:39Z human_phenotype owl:Class HP:0009205 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 5th finger A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the middle bone of the little finger|Cone-shaped end part of the middle bone of the pinky finger|Cone-shaped end part of the middle bone of the pinkie finger UMLS:C4024535 doelkens 2009-01-05T05:22:18Z human_phenotype owl:Class UBERON:0002499 biolink:NamedThing cochlear labyrinth The labyrinth is a system of fluid passages in the inner ear, including both the cochlea, which is part of the auditory system, and the vestibular system, which provides the sense of balance. It is named by analogy with the mythical maze that imprisoned the Minotaur, because of its appearance. The bony labyrinth, or osseous labyrinth, is the network of passages with bony walls lined with periosteum. The bony labyrinth is lined with the membranous labyrinth. There is a layer of perilymph between them. The three parts of the bony labyrinth are the vestibule of the ear, the semicircular canals, and the cochlea. The vestibular system is the region of the inner ear where the semicircular canals converge, close to the cochlea (the hearing organ). The vestibular system works with the visual system to keep objects in focus when the head is moving. Joint and muscle receptors also are important in maintaining balance. The brain receives, interprets, and processes the information from these systems that control our balance. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl BTO:0004686|FMA:61259|MA:0002809|EMAPA:36569|NCIT:C32336|UMLS:C0931689 http://upload.wikimedia.org/wikipedia/commons/1/19/Gray923.png we follow the FMA in placing this in the membranous labyrinth. Notes: The labyrinth can be divided by layer or by region. Bony vs. membranous / Vestibular vs. cochlear uberon owl:Class HP:0025290 biolink:NamedThing Upper-body predominance Applies to an abnormality that affects the arms, trunk, head more than the legs. tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 16:11:12+00:00 HPO:probinson owl:Class GO:2000671 biolink:NamedThing regulation of motor neuron apoptotic process Any process that modulates the frequency, rate or extent of motor neuron apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of motor neuron apoptosis|regulation of motoneuron apoptosis pr 2011-05-09T10:56:17Z biological_process owl:Class UBERON:0019247 biolink:NamedThing plantar skin crease tmpxe7fu0cj_hp_relaxed.owl skin crease of plantar part of pes uberon owl:Class HP:0011715 biolink:NamedThing Trifascicular block Abnormal conduction in all three divisions of the intraventricular conducting tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0155707|SNOMEDCT_US:86014007 peter 2012-04-11T08:10:14Z human_phenotype owl:Class HP:0011710 biolink:NamedThing Bundle branch block Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches. tmpxe7fu0cj_hp_relaxed.owl Bundle-branch block MSH:D002037|SNOMEDCT_US:6374002|UMLS:C0006384 The Bundle of His conducts the electrical impulse from the atrioventricular node into the ventricles. THe Bundle of His divides into right and left bundle branches. A universal feature of a bundle branch block is a prolongation of the time required for depolarization of a portion of the ventricles, reflected in an abnormality of the QRS complex. peter 2012-04-11T07:55:50Z human_phenotype owl:Class UBERON:0003551 biolink:NamedThing midbrain pia mater A pia mater that is part of a midbrain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mesencephalon pia mater|midbrain pia mater of neuraxis|pia mater of neuraxis of midbrain|pia mater of midbrain EHDAA2:0001175|EMAPA:17794|VHOG:0000467|RETIRED_EHDAA2:0001110|MA:0001061 uberon owl:Class Pia mater that is part of the midbrain. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] HP:0030260 biolink:NamedThing Microphallus Length of penis more than 2 SD below the mean for age accompanied by hypospadias. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:276333003|UMLS:C0240701 Traditionally a distinction is made between a Short penis, a short penis with otherwise normal anatomy, versus microphallus, a short penis with hypospadias. Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. A short penis should be differentiated from an inconspicuous penis, for instance due to excessive suprapubic fat ("buried"). We also recognize that shortness of a penis is defined by some subspecialists as penile length more than 2.5 SD below the mean. owl:Class UBERON:0001628 biolink:NamedThing posterior communicating artery One of a pair of right-sided and left-sided blood vessels in the circle of Willis. It connects the three cerebral arteries of the same side. Anteriorly, it is one portion of the terminal trifurcation of the internal carotid artery. The anterior cerebral artery and the middle cerebral artery are the other two branches of the trifurcation. Posteriorly, it communicates with the posterior cerebral artery. tmpxe7fu0cj_hp_relaxed.owl caudal communicating segment|PCS|posterior communicating segment of the basilar artery|PCA|arteria cerebri communicans posterior EHDAA:3352|ZFA:0005001|NCIT:C33357|TAO:0005001|EMAPA:18600|EHDAA2:0004518|FMA:50084|UMLS:C0149559|RETIRED_EHDAA2:0001487|MA:0002023|OpenCyc:Mx4rwDDlqpwpEbGdrcN5Y29ycA|Wikipedia:Posterior_communicating_artery|SCTID:181314001 http://upload.wikimedia.org/wikipedia/commons/2/2e/Circle_of_Willis_en.svg uberon owl:Class An artery that connects caudal division of the internal carotid artery and the basal communicating artery to the basilar artery. Isogai et al. 2001.[TAO] todo - verify ZFA link: An artery that connects caudal division of the internal carotid artery and the basal communicating artery to the basilar artery HP:0033945 biolink:NamedThing Arcuate intimal/medial granulomatous venulitis A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. tmpxe7fu0cj_hp_relaxed.owl 2021-06-24 01:56:15+00:00 peter owl:Class HP:0033917 biolink:NamedThing Arcuate intimal/medial venulitis Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural. tmpxe7fu0cj_hp_relaxed.owl Venulitis within arcuate vein intima/media 2021-06-23 23:29:43+00:00 peter owl:Class GO:0043292 biolink:NamedThing contractile fiber Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. tmpxe7fu0cj_hp_relaxed.owl contractile fibre cellular_component owl:Class CHEBI:76206 biolink:NamedThing xenobiotic metabolite Any metabolite produced by metabolism of a xenobiotic compound. tmpxe7fu0cj_hp_relaxed.owl xenobiotic metabolites chebi_ontology owl:Class HP:0025660 biolink:NamedThing Chiari type II malformation A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele. tmpxe7fu0cj_hp_relaxed.owl Arnold-Chiari type II malformation While Chiari I malformation is thought to result from a small posterior fossa, Chiari II occurs due to in utero malformation of the spine and cranial structures. The underlying cause of Chiari II malformation is thought to be an in utero CSF leak due to open spinal dysraphism, resulting in a small posterior fossa with distortion of the cerebellum and a diminutive cisterna magna, sometimes accompanied by ventriculomegaly and an altered shape of the calvarium. Chiari II malformation is always associated with spinal myelomeningocele or myelocele. Classical signs described on prenatal ultrasound include lemon sign and banana cerebellum sign. peterrobinson owl:Class HP:0002308 biolink:NamedThing Chiari malformation Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. tmpxe7fu0cj_hp_relaxed.owl Arnold-Chiari malformation|Chiari malformation UMLS:C0003803|MSH:D001139|SNOMEDCT_US:253184003 owl:Class UBERON:0011574 biolink:NamedThing mesonephric duct lumen A tube lumen that is part of a mesonephric duct. tmpxe7fu0cj_hp_relaxed.owl cavity of nephric duct|nephric duct lumen EHDAA2:0001244 uberon owl:Class UBERON:0005082 biolink:NamedThing tube lumen A hole in a tube[GO]. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004618|RETIRED_EHDAA2:0003078|AEO:0000078 uberon owl:Class HP:0033889 biolink:NamedThing Abnormal renal arteriole morphology Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 22:04:04+00:00 Renal blood flow originates at the hilum of the kidney through the renal artery. From the segmental artery to the interlobar artery, blood arrives parallel to the corticomedullary junction in the arcuate artery. This gives rise to the interlobular arteries that radiate toward the surface. Afferent arterioles branch off which ultimately leads into the glomerulus of Bowman's capsule. From here, efferent arterioles begin to form the venous system and subdivide into another set of capillaries known as the peritubular capillaries. Blood then leaves the kidney and enters the venous circulation. However, efferent arterioles that are located above the corticomedullary border travel downward into the medulla. They further divide into vasa recta which surround the Loop of Henle. peter owl:Class HP:0025080 biolink:NamedThing Orthokeratotic hyperkeratosis A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei. tmpxe7fu0cj_hp_relaxed.owl 2016-10-12 23:40:17+00:00 Hyperkeratosis is most commonly orthokeratotic. HPO:probinson owl:Class HP:0011143 biolink:NamedThing Age-related cortical cataract A type of age-related cataract that primarily affects the cortex of the lens. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2880562 The cortex of the lens is made of the newest lens fibres. With ageing, discrete opacities can develop within the cortex of the lens that typically cause no visual symptoms unless they involve the visual axis or the entire cortex, in which case the lens becomes white and is said to be mature. peter 2011-06-27T09:50:54Z human_phenotype owl:Class HP:0009957 biolink:NamedThing Complete duplication of the phalanges of the 2nd finger A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the bones of the index finger UMLS:C4024145 doelkens 2009-05-15T02:08:02Z human_phenotype owl:Class HP:0033966 biolink:NamedThing Interlobular vein intima/media amyloidosis Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy tmpxe7fu0cj_hp_relaxed.owl Amyloidosis within interlobular vein intima/media 2021-06-24 12:49:34+00:00 peter owl:Class CL:0000552 biolink:NamedThing orthochromatic erythroblast The final stage of the nucleated, immature erythrocyte, before nuclear loss. Typically the cytoplasm is described as acidophilic, but it still shows a faint polychromatic tint. The nucleus is small and initially may still have coarse, clumped chromatin, as in its precursor, the polychromatophilic erythroblast, but ultimately it becomes pyknotic, and appears as a deeply staining, blue-black, homogeneous structureless mass. The nucleus is often eccentric and sometimes lobulated. tmpxe7fu0cj_hp_relaxed.owl pyknotic eto enrythroblast|eosinophilic erythroblast|late erythoblast|orthochromatic normoblast|acidophilic erythroblast FMA:84646 cell owl:Class HP:0030928 biolink:NamedThing 1-minute APGAR score of 1 tmpxe7fu0cj_hp_relaxed.owl 2016-11-07 18:16:15+00:00 robinp owl:Class NCBITaxon:1963758 biolink:NamedThing Myomorpha tmpxe7fu0cj_hp_relaxed.owl Sciurognathi|mice and others GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:9989 biolink:NamedThing Rodentia tmpxe7fu0cj_hp_relaxed.owl rodent|rodents GC_ID:1 ncbi_taxonomy owl:Class HP:0040228 biolink:NamedThing Decreased level of plasminogen A decreased level of Plasminogen tmpxe7fu0cj_hp_relaxed.owl Hypoplasminogenemia UMLS:C4280715 Requested and created by members of the BRIDGE consortium owl:Class GO:0030002 biolink:NamedThing cellular anion homeostasis Any process involved in the maintenance of an internal steady state of anions at the level of a cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0011379 biolink:NamedThing male external urethral sphincter The external sphincter muscle of urethra (or sphincter urethrae membranaceae) surrounds the whole length of the membranous portion of the urethra, and is enclosed in the fasciæ of the urogenital diaphragm. They arch across the front of the urethra and bulbourethral glands, pass around the urethra, and behind it unite with the muscle of the opposite side, by means of a tendinous raphé. tmpxe7fu0cj_hp_relaxed.owl bulboglandular muscle|male sphincter urethrae muscle|external urethral sphincter of male urethra|musculus sphincter urethrae membranaceae|bulboglandular|male sphincter urethrae|male urethral sphincter muscle|musculus sphincter urethrae externus (urethra masculina)|musculus sphincter urethrae externus urethrae masculinae MA:0002273|NCIT:C52891|FMA:19733|UMLS:C1707060 uberon owl:Class MA includes a term bulboglandular - some sources claim this as the muscles that are associated with the bulbourethral gland, so we place this here HP:0009347 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 3rd finger An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of innermost long bone of the middle finger UMLS:C4024421 doelkens 2009-01-12T11:19:03Z human_phenotype owl:Class HP:0010269 biolink:NamedThing Bracket epiphyses of the proximal phalanges of the hand An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the innermost hand bones UMLS:C4023932 doelkens 2009-07-06T04:25:12Z human_phenotype owl:Class UBERON:0010760 biolink:NamedThing supraglenoid tubercle The supraglenoid tubercle is a region of the scapula to which the long head of the biceps brachii muscle attaches. tmpxe7fu0cj_hp_relaxed.owl supraglenoid tuberosity|tuberculum supraglenoidale FMA:23263 http://upload.wikimedia.org/wikipedia/commons/a/a6/Gray205_left_scapula_lateral_view.png uberon owl:Class UBERON:0005813 biolink:NamedThing tubercle A round nodule, small eminence, or warty outgrowth on an anatomical surface, such as bones, skin, or within the lungs (in the case of tuberculosis). They are also found on the leading edge of Humpback Whale's flippers, improving fluid flow over the flipper's surface[WP]. tmpxe7fu0cj_hp_relaxed.owl tuber FMA:75429|BTO:0002173|AAO:0010605 uberon owl:Class HP:0001031 biolink:NamedThing Subcutaneous lipoma The presence of subcutaneous lipoma. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1403035|NCIT:C3192 human_phenotype owl:Class HP:0002290 biolink:NamedThing Poliosis Circumscribed depigmentation of the hair of the head or the eyelashes. tmpxe7fu0cj_hp_relaxed.owl White patch|Patch of white hair SNOMEDCT_US:14240001|UMLS:C0221262 human_phenotype owl:Class HP:0011365 biolink:NamedThing Patchy hypopigmentation of hair Reduced pigmentation of hair in patches. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023395 peter 2012-03-01T09:52:58Z human_phenotype owl:Class GO:0060958 biolink:NamedThing endocardial cell development The progression of an endocardial cell over time, from its formation to the mature cell. An endocardial cell is a specialized endothelial cell that makes up the endocardium portion of the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2009-09-29T03:26:59Z biological_process owl:Class HP:0011074 biolink:NamedThing Localized hypoplasia of dental enamel A localized form of developmental hypoplasia of the dental enamel. tmpxe7fu0cj_hp_relaxed.owl Localized dysplasia of tooth enamel|Localised dysplasia of tooth enamel|Localized hypoplasia of tooth enamel|Localised hypoplasia of dental enamel|Localised hypoplasia of tooth enamel UMLS:C4023550|UMLS:C4280339 peter 2011-03-10T05:13:09Z owl:Class HP:0012602 biolink:NamedThing Renal chloride wasting High urine chloride in the presence of hypochloridemia. tmpxe7fu0cj_hp_relaxed.owl Renal Cl- wasting|Kidney chloride wasting|Renal Cl wasting UMLS:C4022826 peter 2014-01-16T06:18:11Z human_phenotype owl:Class HP:0012409 biolink:NamedThing Cortical nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:236446001|UMLS:C0403476 peter 2013-11-10T11:03:33Z human_phenotype owl:Class HP:0033338 biolink:NamedThing Abnormal female meiosis Anomalous oocyte meiosis tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 18:29:47+00:00 peter owl:Class HP:0031515 biolink:NamedThing Abnormal meiosis Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells. tmpxe7fu0cj_hp_relaxed.owl 2017-09-22 02:18:52+00:00 peter owl:Class GO:0042428 biolink:NamedThing serotonin metabolic process The chemical reactions and pathways involving serotonin (5-hydroxytryptamine), a monoamine neurotransmitter occurring in the peripheral and central nervous systems, also having hormonal properties. tmpxe7fu0cj_hp_relaxed.owl serotonin metabolism biological_process owl:Class HP:0011579 biolink:NamedThing Unbalanced atrioventricular canal defect Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced). tmpxe7fu0cj_hp_relaxed.owl Unbalanced atrioventricular septal defect UMLS:C3280940 peter 2012-04-08T11:02:44Z human_phenotype owl:Class HP:0006695 biolink:NamedThing Atrioventricular canal defect A defect of the atrioventricular septum of the heart. tmpxe7fu0cj_hp_relaxed.owl Atrioventricular septal defect|Endocardial cushion defect|Hole in centre of heart|Hole in center of heart Fyler:0606|Fyler:1100|UMLS:C1389016|Fyler:606|UMLS:C0014116|SNOMEDCT_US:15459006|MSH:D004694|MSH:C562831 During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. HP:0010439|HP:0005298|HP:0005139 human_phenotype owl:Class HP:0040274 biolink:NamedThing Adenocarcinoma of the small intestine A malignant epithelial tumor with a glandular organization that originates in the small intestine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0278803|NCIT:C2852|SNOMEDCT_US:424440001 owl:Class HP:0040273 biolink:NamedThing Adenocarcinoma of the intestines A malignant epithelial tumor with a glandular organization that originates in the intestines. tmpxe7fu0cj_hp_relaxed.owl NCIT:C2852|UMLS:C4280683 owl:Class HP:0040018 biolink:NamedThing Clinodactyly of hallux tmpxe7fu0cj_hp_relaxed.owl Curvature of big toe UMLS:C4022488|UMLS:C4280299 HPO:skoehler owl:Class GO:0060073 biolink:NamedThing micturition The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body. tmpxe7fu0cj_hp_relaxed.owl urination|urine voiding Wikipedia:Urination biological_process owl:Class CHEBI:48706 biolink:NamedThing antagonist Substance that attaches to and blocks cell receptors that normally bind naturally occurring substances. tmpxe7fu0cj_hp_relaxed.owl antagonist|antagonists|antagoniste|antagonista chebi_ontology owl:Class HP:0006329 biolink:NamedThing Alveolar process hypoplasia Underdevelopment of the alveolar process (also known as alveolar bone). tmpxe7fu0cj_hp_relaxed.owl Deficiency of alveolar ridge|Hypotrophic alveolar ridge|Small alveolar process of jaw|Underdevelopment of alveolar process of jaw|Decreased size of alveolar process of jaw|Hypoplasia of alveolar ridge|Underdevelopment of alveolar ridge|Deficiency of alveolar process of jaw|Hypotrophic alveolar process of jaw|Small alveolar ridge|Decreased size of alveolar ridge|Hypoplastic alveolar bone UMLS:C4280451|SNOMEDCT_US:708494003|UMLS:C4280452|UMLS:C3872671|UMLS:C4280453|UMLS:C1848905 The alveolar process is a thickened ridge of bone that contains the tooth sockets on the mandible and maxilla. HP:0006312 human_phenotype owl:Class HP:0031206 biolink:NamedThing Striatal T2 hyperintensity Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging. tmpxe7fu0cj_hp_relaxed.owl 2017-06-29 12:15:29+00:00 peter owl:Class HP:0010994 biolink:NamedThing Abnormal corpus striatum morphology Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the neostriatum|Abnormality of the striate nucleus|Abnormality of the striatum UMLS:C4023607 The striatum (also known as the neostriatum or striate nucleus) contains the caudate nucleus and putamen, which are separated from one another by a white matter tract called the internal capsule. The striatum is part of the basal ganglia and receives input from the cerebral cortex. Essentially all cortical areas (sensory, motor and associational) project to the striatum. The other major input to the striatum comes from the thalamus, particularly the intralaminar thalamic nuclei. peter 2011-02-10T08:31:42Z human_phenotype owl:Class HP:0009243 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 5th finger Patchy increase in bone density of the distal phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the outermost bone of pinky finger|Uneven increase in bone density in the outermost bone of pinkie finger|Uneven increase in bone density in the outermost bone of little finger UMLS:C4024503 doelkens 2009-01-05T07:25:50Z human_phenotype owl:Class GO:0042421 biolink:NamedThing norepinephrine biosynthetic process The chemical reactions and pathways resulting in the formation of norepinephrine, a hormone secreted by the adrenal medulla, and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts in the central nervous system. It is also the demethylated biosynthetic precursor of epinephrine. tmpxe7fu0cj_hp_relaxed.owl norepinephrine synthesis|noradrenaline biosynthetic process|norepinephrine anabolism|levarterenol biosynthesis|noradrenaline biosynthesis|levarterenol biosynthetic process|norepinephrine formation|norepinephrine biosynthesis biological_process owl:Class PATO:0000627 biolink:NamedThing localized A spatial pattern quality inhering in a bearer by virtue of the bearer's being confined or restricted to a particular location. tmpxe7fu0cj_hp_relaxed.owl focal|localised quality owl:Class HP:0010834 biolink:NamedThing Trophic changes related to pain Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails. tmpxe7fu0cj_hp_relaxed.owl Trophic changes UMLS:C4021220 peter 2010-07-10T07:23:26Z human_phenotype owl:Class HP:0010832 biolink:NamedThing Abnormality of pain sensation Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023691 peter 2010-07-10T07:15:58Z human_phenotype owl:Class HP:0032450 biolink:NamedThing Positive blood arsenic test Detection of arsenic in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-03-03 18:42:40+00:00 peter owl:Class GO:0010873 biolink:NamedThing positive regulation of cholesterol esterification Any process that increases the frequency, rate or extent of cholesterol esterification. Cholesterol esterification is the lipid modification process in which a sterol ester is formed by the combination of a carboxylic acid (often a fatty acid) and cholesterol. In the blood this process is associated with the conversion of free cholesterol into cholesteryl ester, which is then sequestered into the core of a lipoprotein particle. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0043243 biolink:NamedThing positive regulation of protein-containing complex disassembly Any process that activates or increases the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. tmpxe7fu0cj_hp_relaxed.owl up regulation of protein complex disassembly|positive regulation of protein complex disassembly|activation of protein complex disassembly|stimulation of protein complex disassembly|upregulation of protein complex disassembly|up-regulation of protein complex disassembly biological_process owl:Class HP:0000415 biolink:NamedThing Abnormality of the choanae Abnormality of the choanae (the posterior nasal apertures). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025855 owl:Class CHEBI:23240 biolink:NamedThing chromophore The part (atom or group of atoms) of a molecular entity in which the electronic transition responsible for a given spectral band is approximately localized. tmpxe7fu0cj_hp_relaxed.owl chromophores|chromophore Wikipedia:Chromophore chebi_ontology owl:Class CHEBI:52215 biolink:NamedThing photochemical role A chemical role played by the molecular entity or part thereof in a photochemical process. tmpxe7fu0cj_hp_relaxed.owl photochemical roles chebi_ontology owl:Class UBERON:0001868 biolink:NamedThing skin of chest A zone of skin that is part of a chest [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl anterolateral part of thorax zone of skin|front of thorax zone of skin|chest skin|zone of skin of front of thorax|zone of skin of anterior thoracic region|zone of skin of anterolateral part of thorax|anterior thoracic region zone of skin|zone of skin of anterior chest|zone of skin of chest|chest zone of skin|zone of skin of pectoral part of chest|zone of skin of anterior part of thorax FMA:61416|MA:0000553|EMAPA:37279 check FMA:61415 uberon owl:Class CHEBI:58958 biolink:NamedThing organosulfate oxoanion An organic anion of general formula RS(=O)2O(-) where R is an organyl group. tmpxe7fu0cj_hp_relaxed.owl organosulfate oxoanions -1 O4SR 96.06300 95.95173 [O-]S(=O)(=O)O[*] chebi_ontology owl:Class HP:0032041 biolink:NamedThing Vocal cord polyp A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color. tmpxe7fu0cj_hp_relaxed.owl 2018-09-08 01:50:44+00:00 In severe conditions, polyps turn hemorrhagic and emerge as blood blisters on vocal cords. This occurs when collision forces, generated during the oscillatory cycle of phonation, cause microtrauma within the basement membrane of epithelium and the superficial layer of the lamina propria. Consequently, oscillation of vocal folds leads to neovascularization and hemorrhagic events within the damaged tissue. Depending on the size, position, and type of polyps, abnormal voice qualities including hoarseness, harshness, and breathiness would be different. The size of polyps varies from small to large masses, and a criterion to distinguish polyps from nodules is defined as mass bigger than 0.3 mm whereby bigger masses could be classified as polyps. peter owl:Class HP:0008777 biolink:NamedThing Abnormal vocal cord morphology An abnormality of the vocal cord. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the vocal cords UMLS:C0262665 The vocal cords, also known as the vocal folds, represent a subdivision of the larynx, and consist of twin infoldings of mucous membrane stretched horizontally across the larynx. peter 2008-04-04T06:18:00Z human_phenotype owl:Class GO:0006775 biolink:NamedThing fat-soluble vitamin metabolic process The chemical reactions and pathways involving of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water. tmpxe7fu0cj_hp_relaxed.owl fat-soluble vitamin metabolism biological_process owl:Class HP:0025687 biolink:NamedThing Increased amyloid beta 40 peptide CSF concentration An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0025686 biolink:NamedThing Abnormal amyloid beta 40 peptide CSF concentration Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form. tmpxe7fu0cj_hp_relaxed.owl Abnormal beta amyloid 40 level|Abnormal Abeta 40 level peterrobinson owl:Class UBERON:0015766 biolink:NamedThing epithelium of duct of salivary gland An epithelium that is part of a duct of salivary gland. tmpxe7fu0cj_hp_relaxed.owl salivary ductal epithelium|epithelium of salivary duct|salivary duct epithelium FMA:67682 uberon owl:Class GO:0002734 biolink:NamedThing negative regulation of myeloid dendritic cell cytokine production Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid dendritic cell cytokine production. tmpxe7fu0cj_hp_relaxed.owl downregulation of myeloid dendritic cell cytokine production|inhibition of myeloid dendritic cell cytokine production|down-regulation of myeloid dendritic cell cytokine production|down regulation of myeloid dendritic cell cytokine production biological_process owl:Class HP:0009823 biolink:NamedThing Aplasia involving bones of the upper limbs tmpxe7fu0cj_hp_relaxed.owl Absent bones of the upper limbs UMLS:C4024194 doelkens 2009-02-23T05:13:20Z human_phenotype owl:Class UBERON:0014455 biolink:NamedThing subcutaneous abdominal adipose tissue Subcutaneous adipose tissue that is located in the abdominal region. tmpxe7fu0cj_hp_relaxed.owl subcutaneous abdominal fat|abdominal subcutaneous adipose tissue|subcutaneous fat of abdominal region CALOHA:TS-2406 uberon owl:Class HP:0025283 biolink:NamedThing Tender Applied to pain that is tender, i.e., elicited by touching the affected body part. tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 15:25:03+00:00 HPO:probinson owl:Class HP:0025280 biolink:NamedThing Pain characteristic A pain characteristic is defined as a subjective category or type of pain. tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 15:21:51+00:00 HPO:probinson owl:Class HP:0031583 biolink:NamedThing Tessier number 11 facial cleft An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal. tmpxe7fu0cj_hp_relaxed.owl 2017-10-14 12:51:12+00:00 peter owl:Class PATO:0002266 biolink:NamedThing 3-D shape A shape that inheres in a 3 dimensional entity. tmpxe7fu0cj_hp_relaxed.owl 2010-10-05T12:31:16Z quality owl:Class MAXO:0010317 biolink:NamedThing chest CT The use of computed tomography to produce images of structures of the chest. tmpxe7fu0cj_hp_relaxed.owl CAT scan of chest|chest CT examination|chest computerized axial tomography|CT of chest|chest computed tomography|chest CAT scan 2020-03-31T20:39:14Z http://orcid.org/0000-0001-7941-3010 owl:Class HP:0000201 biolink:NamedThing Pierre-Robin sequence Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. tmpxe7fu0cj_hp_relaxed.owl Pierre-robin malformation|Pierre-robin deformity|Pierre-robin anomaly|Pierre Robin sequence|Robin sequence SNOMEDCT_US:4602007|UMLS:C0031900|MSH:D010855 human_phenotype owl:Class GO:0048753 biolink:NamedThing pigment granule organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pigment granule. tmpxe7fu0cj_hp_relaxed.owl pigment granule organization and biogenesis|pigment granule organisation biological_process owl:Class GO:0055076 biolink:NamedThing transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0030642 biolink:NamedThing Fundus albipunctatus tmpxe7fu0cj_hp_relaxed.owl MSH:C562733|SNOMEDCT_US:68222009|UMLS:C0311338 owl:Class HP:0430004 biolink:NamedThing Frontomalar faciosynostosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021870 owl:Class UBERON:0019254 biolink:NamedThing upper eyelash tmpxe7fu0cj_hp_relaxed.owl upper eyelid cilia|upper eyelid eyelash|eyelash of upper eyelid|upper eyelid cilium|hair of upper eyelid FMA:59408 uberon owl:Class HP:0025309 biolink:NamedThing Abnormal pupil shape A deviation from the normal circular shape of the pupil tmpxe7fu0cj_hp_relaxed.owl Irregular pupil 2016-12-21 01:08:53+00:00 HPO:probinson owl:Class UBERON:0018591 biolink:NamedThing upper primary incisor tooth A primary incisor tooth that is part of a upper jaw region. tmpxe7fu0cj_hp_relaxed.owl deciduous upper incisor tooth|upper deciduous incisor tooth FMA:84214 uberon owl:Class HP:0001953 biolink:NamedThing Diabetic ketoacidosis A type of diabetic metabolic abnormality with an accumulation of ketone bodies. tmpxe7fu0cj_hp_relaxed.owl Diabetic ketosis SNOMEDCT_US:420422005|UMLS:C0011880|MSH:D016883 HP:0008253 human_phenotype owl:Class MPATH:0 biolink:NamedThing pathological entity Pathological structure or process tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0000237 biolink:NamedThing Small anterior fontanelle Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small forehead fontanel|Small anterior fontanel UMLS:C1859455 human_phenotype owl:Class GO:0016234 biolink:NamedThing inclusion body A discrete intracellular part formed of aggregated molecules such as proteins or other biopolymers. tmpxe7fu0cj_hp_relaxed.owl neuronal cytoplasmic inclusion|cellular inclusion Wikipedia:Inclusion_bodies|NIF_Subcellular:sao120573470 cellular_component owl:Class GO:0098773 biolink:NamedThing skin epidermis development The process whose specific outcome is the progression of the skin epidermis over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0032792 biolink:NamedThing Tonic seizure A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. tmpxe7fu0cj_hp_relaxed.owl This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding tonic seizures when the onset is not known. The tonic contraction of muscles can result in a tremor, not to be confused with a clonic phase. This term does not apply to seizures with a tonic phase followed a clonic phase, see bilateral tonic-clonic seizure. peter owl:Class HP:0040145 biolink:NamedThing Dicarboxylic acidemia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022416 HPO:skoehler owl:Class CHEBI:33695 biolink:NamedThing information biomacromolecule tmpxe7fu0cj_hp_relaxed.owl information biopolymers|genetically encoded biomacromolecules|genetically encoded biopolymers|information macromolecule|information macromolecules|information biomacromolecules chebi_ontology owl:Class GO:0061560 biolink:NamedThing cranial ganglion formation The process that gives rise to a cranial ganglion. This process pertains to the initial formation of a structure from unspecified parts. tmpxe7fu0cj_hp_relaxed.owl cranial ganglia formation dph 2013-07-10T09:07:27Z biological_process owl:Class GO:0061554 biolink:NamedThing ganglion formation The process that gives rise to ganglion. This process pertains to the initial formation of a structure from unspecified parts. tmpxe7fu0cj_hp_relaxed.owl ganglia formation dph 2013-07-10T08:51:50Z biological_process owl:Class HP:0000542 biolink:NamedThing Impaired ocular adduction Reduced ability to move the eye in the direction of the nose. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1846463 Contraction of the medial rectus pulls the eye towards the nose (adduction or medial movement). human_phenotype owl:Class HP:0010755 biolink:NamedThing Asymmetry of the maxilla Asymmetry between the left and right sides of the maxilla. tmpxe7fu0cj_hp_relaxed.owl Asymmetry of the upper jaw|Uneven maxilla|Unequal sides of maxilla|Canted upper jaw|Tilted upper jaw|Crooked upper jaw|Deviation of the maxilla|Uneven upper jaw|Crooked maxilla|Asymmetry of right and left side of the maxilla|Canted maxilla|Asymmetry of upper jaw|Deviation of the upper jaw|Tilted maxilla UMLS:C0399519|SNOMEDCT_US:235083001 sdoelken 2010-04-23T10:38:44Z human_phenotype owl:Class HP:0030372 biolink:NamedThing Decreased proportion of naive B cells A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072911 owl:Class HP:0032540 biolink:NamedThing Joint flexor surface localization Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed). tmpxe7fu0cj_hp_relaxed.owl 2019-05-27 13:51:06+00:00 peter owl:Class PR:Q15848 biolink:NamedThing adiponectin (human) An adiponectin that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl ADIPOQ|adipocyte complement-related 30 kDa protein (human)|ACRP30|adipose most abundant gene transcript 1 protein (human)|adipocyte, C1q and collagen domain-containing protein (human)|APM1|30 kDa adipocyte complement-related protein (human)|ACDC|gelatin-binding protein (human)|hADIPOQ|GBP28|apM-1 (human) UniProtKB:Q15848 Category=organism-gene. protein owl:Class HP:0025505 biolink:NamedThing Anomalous origin of the circumflex artery from the right sinus of Valsalva The circumflex coronary artery originates from the right aortic sinus of Valsalva. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 23:16:37+00:00 HPO:probinson owl:Class CHEBI:22299 biolink:NamedThing aldonate A monocarboxylic acid anion resulting from the deprotonation of the carboxy group of an aldonic acid. tmpxe7fu0cj_hp_relaxed.owl aldonate|aldonates chebi_ontology owl:Class UBERON:0009625 biolink:NamedThing sacral nerve The five sacral nerves emerge from the sacrum. Although the vertebral components of the sacrum are fused into a single bone, the sacral vertebrae are still used to number the sacral nerves. Posteriorly, they emerge from the posterior sacral foramina, and form the posterior branches of sacral nerves. Anteriorly, they emerge from the anterior sacral foramina, and contribute to the sacral plexus (S1-S4) and coccygeal plexus. tmpxe7fu0cj_hp_relaxed.owl nervi sacrales|sacral spinal nerve|nervus sacralis UMLS:C0228922|FMA:5862|NCIT:C33505 http://upload.wikimedia.org/wikipedia/commons/d/d1/Gray802.png uberon owl:Class UBERON:0016405 biolink:NamedThing pulmonary capillary A capillary that is part of a lung. tmpxe7fu0cj_hp_relaxed.owl capillary of lung FMA:14121 uberon owl:Class HP:0006590 biolink:NamedThing Premature sternal synostosis Prematurely closed sternal sutures. tmpxe7fu0cj_hp_relaxed.owl Prematurely closed sternal sutures UMLS:C4021590 human_phenotype owl:Class HP:0001598 biolink:NamedThing Concave nail The natural longitudinal (posterodistal) convex arch is not present or is inverted. tmpxe7fu0cj_hp_relaxed.owl Koilonychia|Spoon-shaped nails UMLS:C0221261|SNOMEDCT_US:66270006 Koilonychia literally means spoon nails. This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. HP:0001815 human_phenotype owl:Class GO:0046219 biolink:NamedThing indolalkylamine biosynthetic process The chemical reactions and pathways resulting in the formation of indolalkylamines, indole or indole derivatives containing a primary, secondary, or tertiary amine group. tmpxe7fu0cj_hp_relaxed.owl indolalkylamine synthesis|indolalkylamine formation|indolalkylamine anabolism|indolalkylamine biosynthesis biological_process owl:Class CL:0002421 biolink:NamedThing nucleated reticulocyte A reticulocyte that retains the nucleus and other organelles. Found in birds, fish, amphibians and reptiles. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2010-10-15T09:24:05Z cell owl:Class HP:0100454 biolink:NamedThing Osteolytic defects of the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022073 human_phenotype owl:Class PATO:0040041 biolink:NamedThing avulsion fractured A fractured quality in which the fragment of bone tears away from the main mass of bone as a result of physical trauma. tmpxe7fu0cj_hp_relaxed.owl fractured, avulsion quality owl:Class PATO:0040034 biolink:NamedThing fractured A broken quality where an entity is cracked or broken, usually a bone. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:0021654 biolink:NamedThing rhombomere boundary formation The process that gives rise to a rhombomere boundary. This process pertains to the initial formation of a boundary delimiting a rhombomere. Rhombomeres are transverse segments of the developing rhombencephalon that are lineage restricted, express different genes from one another, and adopt different developmental fates. Rhombomeres are numbered in anterior to posterior order. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0007272 biolink:NamedThing ensheathment of neurons The process in which glial cells envelop neuronal cell bodies and/or axons to form an insulating layer. This can take the form of myelinating or non-myelinating ensheathment. tmpxe7fu0cj_hp_relaxed.owl ionic insulation of neurons by glial cells biological_process owl:Class HP:0002165 biolink:NamedThing Pterygium of nails Inward advance of skin over the nail plate. tmpxe7fu0cj_hp_relaxed.owl Nail pterygium UMLS:C0406438|SNOMEDCT_US:110987009 owl:Class HP:0031752 biolink:NamedThing Lateral rectus muscle overaction Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:24:41+00:00 peter owl:Class HP:0010616 biolink:NamedThing Lung fibroma The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:707387004|NCIT:C3041|UMLS:C1334444 sandra1 2009-10-28T06:04:01Z human_phenotype owl:Class HP:0033296 biolink:NamedThing Binucleated visceral epithelial cells Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. tmpxe7fu0cj_hp_relaxed.owl Binucleated podocytes 2020-11-28 21:35:21+00:00 peter owl:Class HP:0012283 biolink:NamedThing Small distal femoral epiphysis Reduced size of the Distal epiphysis of femur. tmpxe7fu0cj_hp_relaxed.owl Small end part of outermost thighbone UMLS:C4022970 peter 2013-04-09T07:33:19Z human_phenotype owl:Class CHEBI:62868 biolink:NamedThing hepatoprotective agent Any compound that is able to prevent damage to the liver. tmpxe7fu0cj_hp_relaxed.owl hepatoprotector|antihepatotoxic agent|hepatoprotective agents chebi_ontology owl:Class CHEBI:50267 biolink:NamedThing protective agent Synthetic or natural substance which is given to prevent a disease or disorder or are used in the process of treating a disease or injury due to a poisonous agent. tmpxe7fu0cj_hp_relaxed.owl chemoprotectants|chemoprotective agent|chemoprotective agents|chemoprotectant|protective agents chebi_ontology owl:Class HP:0003167 biolink:NamedThing Carnosinuria An increased concentration of carnosine in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine carnosine levels UMLS:C3495558|SNOMEDCT_US:410051001 Carnosine is the N-(beta-alanyl) derivative of L-histidine. owl:Class HP:0005060 biolink:NamedThing Limited elbow flexion/extension tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968605 human_phenotype owl:Class UBERON:0004480 biolink:NamedThing musculature of limb Any collection of muscles that is part of a limb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl set of muscles of limb|limb muscle system|muscle group of limb|limb musculature EMAPA:32700|FMA:50188|EHDAA2:0000995 currently defined by location rather than attachment UBERON:0005635 uberon owl:Class HP:0003274 biolink:NamedThing Hypoplastic acetabulae Underdeveloped acetabulae. tmpxe7fu0cj_hp_relaxed.owl Acetabular hypoplasia|Hypoplastic acetabula UMLS:C1846442 human_phenotype owl:Class HP:0006349 biolink:NamedThing Agenesis of permanent teeth A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. tmpxe7fu0cj_hp_relaxed.owl Absence of permanent teeth|Failure of development of permanent teeth|Absent permanent teeth|Agenesis of secondary dentition|Failure of development of secondary teeth|Agenesis of permanent dentition|Missing teeth MSH:C563203|SNOMEDCT_US:234948008|UMLS:C0457756|SNOMEDCT_US:109444001|UMLS:C1290511 HP:0006287|HP:0000681 human_phenotype owl:Class HP:0031994 biolink:NamedThing Bronchial breath sound Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy. tmpxe7fu0cj_hp_relaxed.owl 2018-07-15 19:45:30+00:00 peter owl:Class HP:0030829 biolink:NamedThing Abnormal breath sound An anomalous (adventitious) sound produced by the breathing process. tmpxe7fu0cj_hp_relaxed.owl Abnormal lung auscultation finding SNOMEDCT_US:301273002|UMLS:C0231856 owl:Class HP:0030263 biolink:NamedThing Torsion of the penis Rotated position of the glans, with or without the penile shaft, of 30 degrees or more. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1407019 Penile torsion is defined traditionally as being between 30 and 180 degrees rotation. Penile torsion is usually counter clockwise and is often associated with Chordee and Hypospadias, which should be coded separately. owl:Class HP:0041245 biolink:NamedThing Fractured shoulder bone A partial or complete breakage of the shoulder bone. tmpxe7fu0cj_hp_relaxed.owl bone shoulder bone owl:Class PATO:0000592 biolink:NamedThing decreased thickness A thickness which is relatively low. tmpxe7fu0cj_hp_relaxed.owl slender|thin|low thickness quality owl:Class PATO:0000915 biolink:NamedThing thickness A 1-D extent quality which is equal to the dimension through an object as opposed to its length or width. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0010795 biolink:NamedThing Cerebellar glioma A glioma affecting the cerebellum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023700 peter 2010-06-25T09:08:32Z human_phenotype owl:Class HP:0007238 biolink:NamedThing Nonarteriosclerotic cerebral calcification tmpxe7fu0cj_hp_relaxed.owl Cerebral calcification, nonarteriosclerotic UMLS:C4021579 human_phenotype owl:Class CHEBI:27208 biolink:NamedThing unsaturated fatty acid Any fatty acid containing at least one C=C or C#C bond. tmpxe7fu0cj_hp_relaxed.owl alkene acid|olefinic acid|unsaturated fatty acids PMID:5322381|LIPID_MAPS_class:LMFA0103 chebi_ontology owl:Class CHEBI:35366 biolink:NamedThing fatty acid Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. By extension, the term is sometimes used to embrace all acyclic aliphatic carboxylic acids. tmpxe7fu0cj_hp_relaxed.owl Fettsaeuren|fatty acids|acide gras|acides gras|acidos grasos|Fettsaeure|acido graso|Fatty acid 0 CHO2R 45.01740 44.99765 OC([*])=O PMID:14300208|KEGG:C00162|Wikipedia:Fatty_acid|PMID:14287444|PMID:14328676 CHEBI:13633|CHEBI:24024|CHEBI:4984 chebi_ontology owl:Class UBERON:0017751 biolink:NamedThing proximal mesopodial cartilage element A proximal mesopodial endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0015064 biolink:NamedThing autopod cartilage An autopod endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0001732 biolink:NamedThing pharyngeal tonsil The lymph tissue in the roof and posterior wall of the nasopharynx. tmpxe7fu0cj_hp_relaxed.owl nasopharyngeal tonsil|adenoid|tonsilla pharyngea|tonsil of Luschka|Rachenmandel|tonsilla pharyngealis UMLS:C0001428|FMA:54970|EV:0100054|MESH:A15.382.520.604.084|MA:0000774|NCIT:C33318|BTO:0000777|GAID:1288 http://upload.wikimedia.org/wikipedia/commons/b/be/Gray994-adenoid.png uberon owl:Class HP:0009314 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 4th finger Fusion of the proximal phalanx of the 4th finger with another bone. tmpxe7fu0cj_hp_relaxed.owl Fused innermost bone of ring finger UMLS:C4024448 doelkens 2009-01-08T05:11:48Z human_phenotype owl:Class HP:0004197 biolink:NamedThing Symphalangism of the 4th finger Fusion of two or more bones of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Fused ring finger bones|Symphalangism of the ring finger UMLS:C4021679 human_phenotype owl:Class GO:1904705 biolink:NamedThing regulation of vascular associated smooth muscle cell proliferation Any process that modulates the frequency, rate or extent of vascular smooth muscle cell proliferation. tmpxe7fu0cj_hp_relaxed.owl regulation of VSMC proliferation|regulation of vascular smooth muscle cell proliferation sl 2015-10-01T16:05:20Z biological_process owl:Class HP:0001278 biolink:NamedThing Orthostatic hypotension A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. tmpxe7fu0cj_hp_relaxed.owl Decrease in blood pressure upon standing up|Postural hypotension MSH:D007024|SNOMEDCT_US:28651003|UMLS:C0020651 HP:0006700|HP:0004932 human_phenotype owl:Class UBERON:0006224 biolink:NamedThing elbow joint primordium tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000431|EMAPA:17710|EHDAA:8483 uberon owl:Class HP:0034028 biolink:NamedThing Saccharopinuria Presence of saccharopine in the urine. tmpxe7fu0cj_hp_relaxed.owl 2021-09-04 16:35:22+00:00 peter owl:Class HP:0034027 biolink:NamedThing Abnormal urinary non-proteinogenic amino acid level Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. tmpxe7fu0cj_hp_relaxed.owl 2021-09-04 16:34:33+00:00 peter owl:Class HP:0005526 biolink:NamedThing Lymphoid leukemia A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. tmpxe7fu0cj_hp_relaxed.owl Lymphoid leukaemia SNOMEDCT_US:188725004|SNOMEDCT_US:32280000|UMLS:C0023448|MSH:D007945 human_phenotype owl:Class PATO:0001890 biolink:NamedThing tripartite A concave 3-D shape quality inhering in a bearer by virtue of the bearer's being divided into three branches. tmpxe7fu0cj_hp_relaxed.owl trifurcate quality owl:Class PATO:0002008 biolink:NamedThing concave 3-D shape A complete three dimensional shape in which there is a line connecting pair of points on the object that lies outside the object. Or: a shape with cavities. Contrast: concave. tmpxe7fu0cj_hp_relaxed.owl Image:http://en.wikipedia.org/wiki/Image:Convex_polygon_illustration2.png quality owl:Class HP:0031224 biolink:NamedThing Diffuse pancreatic islet hyperplasia Hyperplasia of the islets of Langerhans with a generalized distribution. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 12:06:09+00:00 peter owl:Class HP:0004510 biolink:NamedThing Pancreatic islet-cell hyperplasia Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. tmpxe7fu0cj_hp_relaxed.owl Islet of Langerhans hyperplasia|Pancreatic islet-cell hypertrophy|Islets of langerhans hypertrophy|Hypertrophic pancreatic islets|Hyperplastic islets of langerhans UMLS:C0597167 The islets of Langerhans contain the alpha cells (producing glucagon), beta cells (insulin and amylin), delta cells (somatostatin),PP cells (pancreatic polypeptide), and the epsilon cells (ghrelin). HP:0001736|HP:0006275 owl:Class HP:0009664 biolink:NamedThing Absent epiphysis of the proximal phalanx of the thumb Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Absent end part of thumb innermost long bone UMLS:C4024253 doelkens 2009-01-30T09:17:13Z human_phenotype owl:Class HP:0100402 biolink:NamedThing Duplication of the middle phalanx of the 4th toe Partial or complete duplication of middle phalanx of fourth toe. tmpxe7fu0cj_hp_relaxed.owl Duplication of the middle bone of the 4th toe|Duplication of the middle phalanx of the fourth toe|Partial/complete duplication of the middle phalanx of the 4th toe UMLS:C4020995 human_phenotype owl:Class HP:0030525 biolink:NamedThing Moderate constriction of peripheral visual field Peripheral visual field constriction with 20-49 degrees binocular visual field preserved. tmpxe7fu0cj_hp_relaxed.owl Moderate peripheral visual field loss UMLS:C4073002 HP:0030524|HP:0030523 owl:Class HP:0100502 biolink:NamedThing Vitamin B12 deficiency tmpxe7fu0cj_hp_relaxed.owl Vitamin B12 deficiency SNOMEDCT_US:190634004|UMLS:C0042847|MSH:D014806 doelkens 2010-12-17T06:00:43Z human_phenotype owl:Class UBERON:0013232 biolink:NamedThing serous acinus The secretory unit of a serous gland. The acinar portion is composed of serous secreting cells. tmpxe7fu0cj_hp_relaxed.owl acinus of serous gland FMA:86279 uberon owl:Class HP:0025233 biolink:NamedThing Sleep paralysis An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes. tmpxe7fu0cj_hp_relaxed.owl 2016-12-14 11:44:36+00:00 HPO:probinson owl:Class UBERON:0002463 biolink:NamedThing muscle of posterior compartment of hindlimb stylopod Any of the posterior thigh muscles. [WP,modified]. tmpxe7fu0cj_hp_relaxed.owl posterior femoral muscle|muscularis compartimentum femoris posterius|posterior femoral muscles|set of hamstring muscles|posterior fascial compartment of thigh|hamstring muscle|hamstring|muscle of posterior compartment of thigh EMAPA:19145|VHOG:0000844|BTO:0003179|FMA:81022|MA:0002312|UMLS:C0584895|NCIT:C53042|EHDAA2:0000727|OpenCyc:Mx4rvVjdtJwpEbGdrcN5Y29ycA|EHDAA:8295|FMA:22427 http://upload.wikimedia.org/wikipedia/commons/d/dc/Gray1239.png|http://upload.wikimedia.org/wikipedia/commons/b/bc/Biceps_femoris_muscle_long_head.PNG check FMA, singular. UBERON:0008538 uberon owl:Class UBERON:0001206 biolink:NamedThing serosa of small intestine A serous membrane that is part of a small intestine [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl tunica serosa intestini tenuis|small intestine serosa|small bowel serosa|serosa of small bowel|small intestine serous membrane|tunica serosa (intestinum tenue)|serous coat of small intestine|small bowel serous membrane|serous membrane of small bowel|small intestinal serosa|serous membrane of small intestine|visceral peritoneum of small intestine EMAPA:37561|FMA:14938|MA:0001558 uberon owl:Class duodenum, 1st part serosa, 2nd - 4th adventitia UBERON:0005970 biolink:NamedThing brain commissure Any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37446 uberon owl:Class any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain[MP] HP:0007688 biolink:NamedThing Undetectable light- and dark-adapted electroretinogram Absence of the combined rod-and-cone response on electroretinogram. tmpxe7fu0cj_hp_relaxed.owl Absent cone and rod functions by electroretinogram|Absent rod-and cone-mediated responses on ERG UMLS:C4021570 HP:0008280|HP:0003230 human_phenotype owl:Class HP:0008323 biolink:NamedThing Abnormal light- and dark-adapted electroretinogram An abnormality of the combined rod-and-cone response on electroretinogram. tmpxe7fu0cj_hp_relaxed.owl Abnormal rod and cone electroretinogram UMLS:C3151111 The dark-adapted 3.0 ERG can be used to elicit a combined rod-cone response. human_phenotype owl:Class HP:0005743 biolink:NamedThing Avascular necrosis of the capital femoral epiphysis Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. tmpxe7fu0cj_hp_relaxed.owl Morbus Legg-Calve-Perthes|Coxa plana|Perthes-like femoral head changes|Osteochondrosis of the femoral head|Legg-Perthes disease|Osteonecrosis of the femoral head|Legg-Calve-Perthes syndrome SNOMEDCT_US:240241003|UMLS:C0023234|SNOMEDCT_US:111255008|ICD-10:M91.1|MSH:D007873 In medical parlance, this is often referred to as Legg Calve Perthes disease. Here, the name 'Avascular necrosis of the capital femoral epiphysis' is preferred to emphasize that the term refers to a phenotypic feature rather than a disease entity. Avascular necrosis of the femoral head may result in pain in the hip, limp, stiffness and reduced range of motion, and some degree of atrophy of the affected leg. The phrase Legg Perthes syndrome or Legg Calve Perthes disease is also used to refer to a number of diseases, including the idiopathic form and a form that is related to mutation in the COL2A1 gene (MIM 150600). Legg-Calve-Perthes disease usually occurs in boys 4 to 10 years old, and is clinically characterized by limping, hip stiffness, limited range of motion, and can result in restriction of growth of the affected leg and wasting of the muscles of the upper thigh. HP:0010887|HP:0006448|HP:0003280 human_phenotype owl:Class HP:0010395 biolink:NamedThing Aplasia/hypoplasia of the proximal phalanx of the 2nd toe Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped innermost 2nd toe bone|Absent/small innermost 2nd toe bone UMLS:C4023859 doelkens 2009-07-16T11:58:15Z human_phenotype owl:Class CL:0008008 biolink:NamedThing striated visceral muscle cell A visceral muscle cell that is striated. Examples include the visceral muscle cells of arhtropods. tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0005398 biolink:NamedThing female reproductive gland A sex gland that is part of a female reproductive system. tmpxe7fu0cj_hp_relaxed.owl BTO:0000254|MA:0000383 uberon owl:Class HP:0100728 biolink:NamedThing Germ cell neoplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021985|NCIT:C3708 doelkens 2011-06-06T04:46:36Z human_phenotype owl:Class HP:0030513 biolink:NamedThing Difficulty adjusting from light to dark tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072995 owl:Class HP:0030512 biolink:NamedThing Difficulty adjusting to changes in luminance tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072994 owl:Class HP:0034023 biolink:NamedThing Anti-HLA-B IgG1 antibody positivity The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B). tmpxe7fu0cj_hp_relaxed.owl 2021-09-04 15:27:03+00:00 peter owl:Class HP:0001074 biolink:NamedThing Atypical nevi in non-sun exposed areas tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021837 human_phenotype owl:Class HP:0012357 biolink:NamedThing Increased mannosylation of N-linked protein glycosylation Increased addition of mannose to N-linked glycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022934 peter 2013-09-15T10:25:28Z human_phenotype owl:Class HP:0009562 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 2nd finger Uneven (irregular) increase in bone density of the distal phalanx of the second finger. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the outermost bone of the 2nd finger UMLS:C4024290 doelkens 2009-01-28T04:16:02Z human_phenotype owl:Class HP:0000960 biolink:NamedThing Sacral dimple A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. tmpxe7fu0cj_hp_relaxed.owl Spinal dimple|Pilonidal dimple SNOMEDCT_US:311897005|SNOMEDCT_US:249729002|UMLS:C0426848 human_phenotype owl:Class HP:0009384 biolink:NamedThing Cone-shaped epiphyses of the 5th finger A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the little finger bones|Cone-shaped end part of the pinkie finger bones|Cone-shaped end part of the pinky finger bones UMLS:C4024405 doelkens 2009-01-13T01:19:03Z human_phenotype owl:Class HP:0025210 biolink:NamedThing Triggered by glucose ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose. tmpxe7fu0cj_hp_relaxed.owl 2016-12-10 13:48:59+00:00 HPO:probinson owl:Class HP:0025208 biolink:NamedThing Triggered by carbohydrate ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates. tmpxe7fu0cj_hp_relaxed.owl Carbohydrate ingestion triggered symptoms|Triggered by carbohydrate ingestion 2016-12-10 13:46:32+00:00 HPO:probinson owl:Class UBERON:0004630 biolink:NamedThing thoracic vertebra 5 The fifth thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl fifth dorsal vertebra|T5 vertebra|fifth thoracic vertebra NCIT:C33727|FMA:9922|UMLS:C0459950|EMAPA:19546|MA:0001442 elements are to be defined spatially/topologically uberon owl:Class HP:0011917 biolink:NamedThing Short 5th toe Underdevelopment (hypoplasia) of the fifth toe. tmpxe7fu0cj_hp_relaxed.owl Short pinky toe|Short pinkie toe|Short little toe|Short fifth toe UMLS:C4021111 peter 2012-06-08T08:25:00Z human_phenotype owl:Class GO:0009891 biolink:NamedThing positive regulation of biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. tmpxe7fu0cj_hp_relaxed.owl activation of biosynthetic process|positive regulation of synthesis|up-regulation of biosynthetic process|positive regulation of biosynthesis|upregulation of biosynthetic process|stimulation of biosynthetic process|positive regulation of formation|positive regulation of anabolism|up regulation of biosynthetic process biological_process owl:Class GO:0006141 biolink:NamedThing regulation of purine nucleobase metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving purines. tmpxe7fu0cj_hp_relaxed.owl regulation of purine base metabolism|regulation of purine base metabolic process biological_process owl:Class HP:0003643 biolink:NamedThing Sulfite oxidase deficiency Abnormally reduced sulfite oxidase level. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:367368009|MSH:C538141|UMLS:C0268624 Sulfite oxidase is responsible for the oxidation of sulfite to sulfate and is the terminal enzyme in the oxidative degradation pathway of sulfur-containing amino acids. human_phenotype owl:Class HP:0002383 biolink:NamedThing Infectious encephalitis A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity. tmpxe7fu0cj_hp_relaxed.owl Brain inflammation UMLS:C0014038|MSH:D004660|SNOMEDCT_US:45170000 owl:Class HP:0011729 biolink:NamedThing Abnormality of joint mobility An abnormality in the range and ease of motion of joints across their normal range. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023216 peter 2012-04-18T07:09:28Z human_phenotype owl:Class UBERON:0010847 biolink:NamedThing ulna pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a ulna. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0002100|EHDAA:6226 uberon owl:Class UBERON:0015003 biolink:NamedThing ulna endochondral element Major postaxial endrochondral skeletal element in the anterior zeugopod. tmpxe7fu0cj_hp_relaxed.owl ulna skeletal element|ulna element The corresponding element in the posterior fin/limb is the fibula. uberon owl:Class HP:0030202 biolink:NamedThing Favorable response of weakness to acetylcholine esterase inhibitors Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. tmpxe7fu0cj_hp_relaxed.owl Favourable response of weakness to acetylcholine esterase inhibitors UMLS:C4022581 An acetylcholinesterase inhibitor inhibits acetylcholinesterase from breaking down acetylcholine, thereby increasing both the level and duration of action of the neurotransmitter acetylcholine. For instance, edrophonium is a readily reversible acetylcholinesterase inhibitor that can be used to differentiate myasthenia gravis from cholinergic crisis. Edrophonium would improve muscle weakness in myasthenia gravis but not in cholinergic crisis. owl:Class HP:0030690 biolink:NamedThing Gingival cleft A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:109622003|UMLS:C0426489 owl:Class GO:0014827 biolink:NamedThing intestine smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the intestine. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The intestine is the section of the alimentary canal from the stomach to the anal canal. It includes the large intestine and small intestine. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class PATO:0002149 biolink:NamedThing ivory A quality inhering in a bearer by virtue of the bearer exhibiting increased density resulting in exhibiting increased degree of radiopacity (in X-rays). tmpxe7fu0cj_hp_relaxed.owl 2009-11-03T02:59:08Z quality owl:Class HP:0011184 biolink:NamedThing EEG with hyperventilation-induced generalized epileptiform discharges Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). tmpxe7fu0cj_hp_relaxed.owl EEG with hyperventilation-induced generalised epileptiform discharges UMLS:C4023489 hecht 2011-11-19T10:37:49Z human_phenotype owl:Class HP:0006642 biolink:NamedThing Large sternal ossification centers tmpxe7fu0cj_hp_relaxed.owl Large sternal ossification centres UMLS:C1865241 human_phenotype owl:Class HP:0030010 biolink:NamedThing Hydrometrocolpos Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0269209|SNOMEDCT_US:60023006 Usually hydrometrocolpos manifests at puberty caused by an obstruction of the female genital tract.The most frequent cause of hydrometrocolpos is the presence of imperforate hymen due to failure of partial resorption of this membrane during the embryonic development. owl:Class HP:0032848 biolink:NamedThing Focal aware cognitive seizure with neglect A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032693 biolink:NamedThing Focal cognitive seizure with neglect A focal cognitive seizure characterized by neglect as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl Neglect is unilateral failure to report or respond to stimuli presented contralaterally. peter owl:Class HP:0033715 biolink:NamedThing Hippocampal sclerosis Atrophy with gliosis of the hippocampus with loss of neurons and the normal cortical architecture. tmpxe7fu0cj_hp_relaxed.owl Mesial temporal sclerosis 2021-04-07 12:37:41+00:00 peter owl:Class HP:0012777 biolink:NamedThing Retinal neoplasm A tumor (abnormal growth of tissue) of the retina. tmpxe7fu0cj_hp_relaxed.owl MSH:D019572|SNOMEDCT_US:127002001|NCIT:C3262|UMLS:C0524801 peter 2014-04-07T05:38:24Z human_phenotype owl:Class HP:0005248 biolink:NamedThing Intrahepatic biliary atresia Atresia in the intrahepatic bile duct. tmpxe7fu0cj_hp_relaxed.owl Intrahepatic atresia of biliary duct|Bile duct paucity UMLS:C1855284 human_phenotype owl:Class HP:0005912 biolink:NamedThing Biliary atresia Atresia of the biliary tree. tmpxe7fu0cj_hp_relaxed.owl Biliary duct atresia SNOMEDCT_US:82821008|UMLS:C0005411|SNOMEDCT_US:77480004|MSH:D001656 peter 2008-03-27T02:07:00Z human_phenotype owl:Class HP:0025590 biolink:NamedThing Abnormal extraocular muscle physiology A functional anomaly of the muscles of the eye. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 20:11:20+00:00 HPO:probinson owl:Class HP:0033211 biolink:NamedThing Decreased total iron binding capacity A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. tmpxe7fu0cj_hp_relaxed.owl 2020-10-12 12:01:40+00:00 peter owl:Class HP:0033212 biolink:NamedThing Abnormal total iron binding capacity Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. tmpxe7fu0cj_hp_relaxed.owl 2020-10-12 12:02:56+00:00 peter owl:Class HP:0032847 biolink:NamedThing Focal impaired awareness hemifacial clonic seizure Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0007332 biolink:NamedThing Focal hemifacial clonic seizure Focal seizure characterized at onset by clonic movements affecting half of the face. tmpxe7fu0cj_hp_relaxed.owl Hemifacial seizures UMLS:C4024906 A seizure type typically occurring in childhood epilepsy with centrotemporal spikes. human_phenotype owl:Class HP:0032064 biolink:NamedThing Gastrointestinal eosinophilia Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them. tmpxe7fu0cj_hp_relaxed.owl Eosinophilic gastrointestinal disease|GI eosinophilia|Eosinophilic gastroenteritis|Eosinophilic enteritis|Eosinophilic gastrointestinal disorders 2018-09-16 12:23:19+00:00 peter owl:Class HP:0006976 biolink:NamedThing Necrotizing encephalopathy A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1396481 The disease acute necrotizing encephalopathy is characterized by acute onset encephalopathy with rapid, progressive neurologic deterioration, seizures and symmetric multifocal brain lesions. This term is kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. human_phenotype owl:Class HP:0100796 biolink:NamedThing Orchitis Testicular inflammation. tmpxe7fu0cj_hp_relaxed.owl Inflammation of testicles MSH:D009920|SNOMEDCT_US:274718005|UMLS:C0029191 doelkens 2011-06-08T04:18:06Z human_phenotype owl:Class HP:0002705 biolink:NamedThing High, narrow palate The presence of a high and narrow palate. tmpxe7fu0cj_hp_relaxed.owl Narrow and high arched palate|Gothic palate|Narrow, highly arched palate|Narrow, highly arched roof of mouth|High vaulted palate|Narrow, high-arched palate|Narrow, high-arched roof of mouth|High narrow palate|High, narrow palate UMLS:C1837404 human_phenotype owl:Class HP:0000218 biolink:NamedThing High palate Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). tmpxe7fu0cj_hp_relaxed.owl High, arched palate|Increased palatal height|High palate|Palate high-arched|Palate, high-arched|High arched palate|Ogival palate|High-arched palate|Elevated palate SNOMEDCT_US:27272007|UMLS:C0240635 The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and applied inaccurately. HP:0009082|HP:0000156|HP:0009080|HP:0009097 owl:Class HP:0041176 biolink:NamedThing Fractured distal phalanx of manual digit 2 A partial or complete breakage of the distal phalanx of manual digit 2. tmpxe7fu0cj_hp_relaxed.owl bone distal phalanx of manual digit 2 owl:Class HP:0031830 biolink:NamedThing Pinguecula A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea. tmpxe7fu0cj_hp_relaxed.owl 2018-05-04 01:54:08+00:00 peter owl:Class GO:2000382 biolink:NamedThing positive regulation of mesoderm development Any process that activates or increases the frequency, rate or extent of mesoderm development. tmpxe7fu0cj_hp_relaxed.owl vk 2011-02-15T03:10:12Z biological_process owl:Class GO:2000380 biolink:NamedThing regulation of mesoderm development Any process that modulates the frequency, rate or extent of mesoderm development. tmpxe7fu0cj_hp_relaxed.owl vk 2011-02-15T03:09:46Z biological_process owl:Class HP:0100912 biolink:NamedThing Sclerosis of the distal phalanx of the thumb An elevation of bone density in the distal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the outermost bone of the thumb UMLS:C4021930 Sclerosis can be identified on a radiograph as an area of increased opacity. human_phenotype owl:Class HP:0020089 biolink:NamedThing Post-vaccination rubella Infection with the rubella virus of the live-attenuated vaccine. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 17:36:47+00:00 robinp owl:Class HP:0020085 biolink:NamedThing Infection following live vaccination An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 17:21:47+00:00 robinp owl:Class HP:0010317 biolink:NamedThing Scapular aplasia Absence of the scapulae. tmpxe7fu0cj_hp_relaxed.owl Absent shoulder blade|Absent scapula UMLS:C4021298 peter 2009-07-14T11:40:24Z human_phenotype owl:Class GO:0031113 biolink:NamedThing regulation of microtubule polymerization Any process that modulates the frequency, rate or extent of microtubule polymerization. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0500013 biolink:NamedThing Lack of gonadotropin-releasing hormone pulsatility Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion. tmpxe7fu0cj_hp_relaxed.owl Absence of GnRH pulsatility The decapeptide gonadotropin-releasing hormone (GnRH) is the master hormone regulating reproduction. GnRH is released from some 1000 neurons within the hypothalamus in a pulsatile manner. Hypothalamic GnRH gene expression occurs intermittently (in a pulsatile fashion). The primary target of hypothalamic GnRH is the anterior pituitary gonadotrope, which responds to stimulation by increasing the synthesis and secretion of the gonadotropins luteinzing hormone (LH) and follicle stimulating hormone (FSH), which in turn regulate gonadal development and function. owl:Class HP:0500012 biolink:NamedThing Abnormality of gonadotropin-releasing hormone level A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland. tmpxe7fu0cj_hp_relaxed.owl Abnormality of GnRH level owl:Class CHEBI:26607 biolink:NamedThing saturated fatty acid Any fatty acid containing no carbon to carbon multiple bonds. Known to produce adverse biological effects when ingested to excess. tmpxe7fu0cj_hp_relaxed.owl SFAs|saturated fatty acids|saturated fatty acid|SFA PMID:16492686|PMID:20237329|PMID:19763019 chebi_ontology owl:Class CL:0000670 biolink:NamedThing primordial germ cell A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells. tmpxe7fu0cj_hp_relaxed.owl gonocyte|primitive germ cell FMA:70567 cell owl:Class UBERON:0007522 biolink:NamedThing striated muscle sphincter A ring of striated muscle cells whose contraction closes the opening of the ring. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0003144|AEO:0000144 uberon owl:Class UBERON:0009692 biolink:NamedThing lumen of pharyngotympanic tube An organ cavity that is part of a pharyngotympanic tube. tmpxe7fu0cj_hp_relaxed.owl lumen of eustachian tube|auditory tube lumen|lumen of auditory tube|pharyngotympanic tube lumen FMA:60079|EHDAA2:0004118 Check relationships for conformance with AAO and XAO uberon owl:Class GO:0048066 biolink:NamedThing developmental pigmentation The developmental process that results in the deposition of coloring matter in an organism, tissue or cell. tmpxe7fu0cj_hp_relaxed.owl pigmentation during development biological_process owl:Class HP:0033500 biolink:NamedThing Subendothelial glomerular basement membrane electron dense deposits Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 13:41:11+00:00 The glomerular filtration barrier consists of two cells (podocytes and endothelial cells) and the glomerular basement membrane (GBM), a specialized extracellular matrix that lies between them. peter owl:Class GO:0045662 biolink:NamedThing negative regulation of myoblast differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. tmpxe7fu0cj_hp_relaxed.owl inhibition of myoblast differentiation|down regulation of myoblast differentiation|down-regulation of myoblast differentiation|downregulation of myoblast differentiation biological_process owl:Class PATO:0002021 biolink:NamedThing conical A convex 3-D shape quality inhering in a bearer by virtue of the bearer's resembling a cone (a 3-D shape with a round cross section that tapers). tmpxe7fu0cj_hp_relaxed.owl cone-shaped Image:http://upload.wikimedia.org/wikipedia/commons/d/d2/Cone_3d.png quality owl:Class HP:0009477 biolink:NamedThing Proximal/middle symphalangism of 4th finger Fusion of the proximal and middle phalanges of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Fused innermost and middle bone of fourth finger UMLS:C4024342 doelkens 2009-01-15T10:24:03Z HP:0009476 human_phenotype owl:Class UBERON:0016943 biolink:NamedThing lower premolar tooth tmpxe7fu0cj_hp_relaxed.owl LP|lower premolar tooth|mandibular premolar tooth UBERON:4200143 uberon owl:Class HP:0030623 biolink:NamedThing Intraretinal hyporeflective spaces on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073093 owl:Class HP:0030625 biolink:NamedThing Hyporeflective spaces on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073095 owl:Class GO:1902838 biolink:NamedThing regulation of nuclear migration along microtubule Any process that modulates the frequency, rate or extent of nuclear migration along microtubule. tmpxe7fu0cj_hp_relaxed.owl regulation of transport of nucleus by microtubules|regulation of nucleus migration|regulation of microtubule-dependent nuclear positioning|regulation of microtubule cytoskeleton-dependent nuclear positioning|regulation of transport of nucleus, microtubule-mediated|regulation of microtubule-dependent nucleus positioning|regulation of nuclear migration, microtubule-mediated|regulation of microtubule-mediated nuclear migration|regulation of nuclear movement, microtubule-mediated|regulation of microtubule cytoskeleton-dependent nucleus positioning vw 2014-04-01T13:50:23Z biological_process owl:Class HP:0004736 biolink:NamedThing Crossed fused renal ectopia A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. tmpxe7fu0cj_hp_relaxed.owl Ectopic kidney with fusion UMLS:C1835796 human_phenotype owl:Class HP:0000086 biolink:NamedThing Ectopic kidney A developmental defect in which a kidney is located in an abnormal anatomic position. tmpxe7fu0cj_hp_relaxed.owl Displaced kidney|Ectopic kidneys|Abnormal kidney location|Renal ectopia UMLS:C0238207|SNOMEDCT_US:16507009 human_phenotype owl:Class HP:0032303 biolink:NamedThing Lambda Bence Jones proteinuria The presence of free monoclonal lambda immunoglobulin light chains in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 23:23:21+00:00 peter owl:Class HP:0030156 biolink:NamedThing Bence Jones Proteinuria The presence of free monoclonal immunoglobulin light chains in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0004968|SNOMEDCT_US:274771005 Bence Jones proteins are produced by neoplastic plasma cells and can be found in the context of multiple myeloma or Waldenstrom's macroglobulinemia. owl:Class HP:0000384 biolink:NamedThing Preauricular skin tag A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). tmpxe7fu0cj_hp_relaxed.owl Preauricular tags|Preauricular acrochordon|Preauricular tag|Preauricular fibroepithelial polyp|Skin tag on the posterior cheek|Preauricular skin tags|Ear tag|Skin tag in front of the ear|Periauricular skin tag UMLS:C1860816|UMLS:C4072826 HP:0008575|HP:0100278 human_phenotype owl:Class GO:2000179 biolink:NamedThing positive regulation of neural precursor cell proliferation Any process that activates or increases the frequency, rate or extent of neural precursor cell proliferation. tmpxe7fu0cj_hp_relaxed.owl dph 2010-10-13T12:40:45Z biological_process owl:Class HP:0001744 biolink:NamedThing Splenomegaly Abnormal increased size of the spleen. tmpxe7fu0cj_hp_relaxed.owl Increased spleen size SNOMEDCT_US:16294009|UMLS:C0038002|MSH:D013163 HP:0001745|HP:0006269 human_phenotype owl:Class HP:0003271 biolink:NamedThing Visceromegaly Abnormal increased size of the viscera of the abdomen. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0042782|SNOMEDCT_US:28543008 Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas. human_phenotype owl:Class HP:0032249 biolink:NamedThing Coccidioidomycosis Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii. tmpxe7fu0cj_hp_relaxed.owl Valley fever 2019-01-27 13:37:54+00:00 Persons with immunodeficiency diseases, diabetics, transplant recipients, and prisoners are also particularly vulnerable to infection by Coccidioides. peter owl:Class HP:0032255 biolink:NamedThing Opportunistic fungal infection An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 18:09:57+00:00 peter owl:Class UBERON:0000458 biolink:NamedThing endocervix The region of the opening of the uterine cervix into the uterine cavity. tmpxe7fu0cj_hp_relaxed.owl FMA:86485|NCIT:C12309|BTO:0003002|UMLS:C0227837 uberon owl:Class HP:0034117 biolink:NamedThing Anti-angiotensin-converting enzyme 2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2. tmpxe7fu0cj_hp_relaxed.owl Anti-ACE2 antibody positivity 2021-12-19 15:26:40+00:00 peter owl:Class CL:3000000 biolink:NamedThing ciliated epithelial cell of esophagus A ciliated epithelial cell of the esophagus. tmpxe7fu0cj_hp_relaxed.owl CellBLAST 2019-02-09T16:40:30Z cell owl:Class HP:0100823 biolink:NamedThing Genital hernia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021962 doelkens 2011-06-09T05:11:49Z human_phenotype owl:Class HP:0100213 biolink:NamedThing Absent epiphysis of the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the middle bone of the pinkie toe|Absent end part of the middle bone of the little toe|Absent end part of the middle bone of the pinky toe UMLS:C4022208 doelkens 2010-06-24T05:04:00Z human_phenotype owl:Class HP:0200003 biolink:NamedThing Splayed epiphyses Flaring (widening) of the epiphysis. tmpxe7fu0cj_hp_relaxed.owl Splayed end part of bone UMLS:C4021906 sebastiankohler 2010-05-31T02:19:45Z HP:0004978 human_phenotype owl:Class HP:0033053 biolink:NamedThing Pseudoseizure Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0034017 biolink:NamedThing Anti-class I HLA antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C). tmpxe7fu0cj_hp_relaxed.owl 2021-09-04 15:17:24+00:00 peter owl:Class HP:0006009 biolink:NamedThing Broad phalanx Increased side-to-side width of one or more phalanges of the fingers or toes. tmpxe7fu0cj_hp_relaxed.owl Wide phalanges|Wide digital bones|Widened phalanges|Broad phalanges UMLS:C1855185 HP:0006030|HP:0006249 human_phenotype owl:Class HP:0011275 biolink:NamedThing Recurrent mycobacterium avium complex infections Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1737260 Mycobacterium avium complex (MAC) is a group of species including M. avium, M. avium paratuberculosis, and others. Disseminated MAC infections can be seen associated with HIV infection. Pulmonary disease and cervical adenitis are other sequellae of MAC infection. peter 2011-12-28T12:16:46Z human_phenotype owl:Class HP:0011274 biolink:NamedThing Recurrent mycobacterial infections Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023438 Mycobacteria represent a family of slowly growing bacteria, including M. tuberculosis, the agent of tuberculosis, M. leprae, the agent of leprosy, M. avium complex species, and others. Mycobacteria infection can be asymptomatic or not, and are typically difficult to treat with antibiotics. peter 2011-12-28T12:11:54Z human_phenotype owl:Class HP:0006915 biolink:NamedThing Inability to walk by childhood/adolescence tmpxe7fu0cj_hp_relaxed.owl Inability to walk by childhood/adolescence UMLS:C1859200 owl:Class HP:0032713 biolink:NamedThing Focal impaired awareness motor seizure with version A focal motor seizure with version characterized by impaired awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal motor impaired awareness seizure with version Version id defined as sustained, forced, involuntary turning of the eyes or head. peter owl:Class HP:0001404 biolink:NamedThing Hepatocellular necrosis tmpxe7fu0cj_hp_relaxed.owl Hepatocellular loss|Death of liver cells UMLS:C1855038 human_phenotype owl:Class NBO:0000499 biolink:NamedThing NREM parasomnia "A type of parasomnia that occurs during NREM sleep." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-04-08T03:37:10Z George Gkoutos behavior_ontology owl:Class NBO:0000493 biolink:NamedThing parasomnia "A sleeping behavior phenotype that involve abnormal and unnatural movements, emotions, perceptions, and dreams that occur while falling asleep, sleeping, between sleep stages, or during arousal from sleep." [wikipedia:Parasomnia] tmpxe7fu0cj_hp_relaxed.owl 2011-04-08T03:20:06Z George Gkoutos behavior_ontology owl:Class HP:0032791 biolink:NamedThing Focal impaired awareness cognitive seizure with anomia A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032701 biolink:NamedThing Focal cognitive seizure with anomia A focal cognitive seizure characterized by anomia as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl Anomia is the inability to name objects despite knowing what they are. peter owl:Class HP:0032229 biolink:NamedThing Perinuclear antineutrophil antibody positivity The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils. tmpxe7fu0cj_hp_relaxed.owl p-ANCA positivity 2019-01-26 14:41:19+00:00 peter owl:Class HP:0009572 biolink:NamedThing Osteolytic defects of the middle phalanx of the 2nd finger Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Lytic defects of middle index finger phalanx UMLS:C4021437 doelkens 2009-01-28T05:10:24Z HP:0004134 human_phenotype owl:Class HP:0008341 biolink:NamedThing Distal renal tubular acidosis A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. tmpxe7fu0cj_hp_relaxed.owl Renal tubular acidosis, type I UMLS:C1704380|SNOMEDCT_US:86210009|MSH:D000141|SNOMEDCT_US:236461000 human_phenotype owl:Class UBERON:0000389 biolink:NamedThing lens cortex Tissue that surrounds the lens nucleus. tmpxe7fu0cj_hp_relaxed.owl cortex of lens SCTID:280626006|FMA:58970|CALOHA:TS-0542|BTO:0001632|MESH:A09.371.509.225 uberon owl:Class UBERON:0004258 biolink:NamedThing back blood vessel A blood vessel that is part of a back [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of back EMAPA:37243|MA:0000493 uberon owl:Class HP:0032429 biolink:NamedThing Decreased HDL3a concentration A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:49:28+00:00 peter owl:Class HP:0032425 biolink:NamedThing Abnormal HDL3a concentration Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:48:59+00:00 peter owl:Class UBERON:0011963 biolink:NamedThing talocalcaneonavicular joint The talocalcaneonavicular articulation is an arthrodial joint: the rounded head of the talus being received into the concavity formed by the posterior surface of the navicular, the anterior articular surface of the calcaneus, and the upper surface of the plantar calcaneonavicular ligament. There are two ligaments in this joint: the articular capsule and the dorsal talonavicular. tmpxe7fu0cj_hp_relaxed.owl talocalcaneonavicular articulation|articulatio talocalcaneonavicularis FMA:35204 uberon owl:Class UBERON:0003698 biolink:NamedThing subtalar joint A joint of the pes that connects the talus and the calcaneus. tmpxe7fu0cj_hp_relaxed.owl talocalcaneal articulation|articulatio subtalaris|articulatio talocalcanea|talocalcaneal joint|subtalar joint UMLS:C0038593|NCIT:C33653|MESH:D013380|FMA:35198|GAID:260 Subtalar:Joint.PNG uberon owl:Class HP:0011609 biolink:NamedThing Type III truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta. tmpxe7fu0cj_hp_relaxed.owl Type 3 truncus arteriosus|Persistent truncus arteriosus type III UMLS:C4021136|Fyler:530|Fyler:0530 According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. peter 2012-04-08T03:08:53Z human_phenotype owl:Class PR:P32754 biolink:NamedThing 4-hydroxyphenylpyruvate dioxygenase (human) A 4-hydroxyphenylpyruvate dioxygenase that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl 4HPPD (human)|hHPD|4-hydroxyphenylpyruvic acid oxidase (human)|HPD|HPPDase (human)|PPD UniProtKB:P32754 Category=organism-gene. protein owl:Class PR:000008730 biolink:NamedThing 4-hydroxyphenylpyruvate dioxygenase A protein that is a translation product of the human HPD gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl 4HPPD|PPD|4-hydroxyphenylpyruvic acid oxidase|F Alloantigen|HPPDase|HPD|F protein IUPHARobj:2621 Category=gene. protein owl:Class HP:0009849 biolink:NamedThing Symphalangism of middle phalanx of finger Fusion of a middle phalanx of a finger with another bone. tmpxe7fu0cj_hp_relaxed.owl Fused middle finger bone UMLS:C4024184 doelkens 2009-03-11T12:15:55Z HP:0009872 human_phenotype owl:Class HP:0410059 biolink:NamedThing Increased level of D-threitol in urine An increase in the level of D-threitol in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-01-27 02:34:50+00:00 D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans. ORCID:0000-0001-5208-3432 owl:Class HP:0004406 biolink:NamedThing Spontaneous, recurrent epistaxis tmpxe7fu0cj_hp_relaxed.owl Recurrent epistaxes|Spontaneous, recurrent nosebleed|Recurrent epistaxis|Recurring nosebleed UMLS:C3809715 peter 2008-03-18T09:20:00Z HP:0003684 human_phenotype owl:Class HP:0000421 biolink:NamedThing Epistaxis Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. tmpxe7fu0cj_hp_relaxed.owl Nose bleed|Frequent nosebleeds|Nasal haemorrhage|Bloody nose|Nose bleeding|Nosebleed|Nasal hemorrhage UMLS:C0014591|ICD10:R04.0|SNOMEDCT_US:12441001|SNOMEDCT_US:249366005|EFO:0003895|MSH:D004844|COHD:318556|NCIT:C26766|ICD9:784.7 human_phenotype owl:Class GO:0043069 biolink:NamedThing negative regulation of programmed cell death Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. tmpxe7fu0cj_hp_relaxed.owl downregulation of programmed cell death|inhibition of programmed cell death|down-regulation of programmed cell death|down regulation of programmed cell death|negative regulation of non-apoptotic programmed cell death GO:0043072 biological_process owl:Class UBERON:0034763 biolink:NamedThing hindbrain commissure Any commissure within the hindbrain. tmpxe7fu0cj_hp_relaxed.owl ZFA:0001692|TAO:0002199 uberon owl:Class HP:0008528 biolink:NamedThing Long hairs growing from helix of pinna tmpxe7fu0cj_hp_relaxed.owl Ear hair|Long hairs growing from helix of ear SNOMEDCT_US:27394002|UMLS:C4024657|UMLS:C0222050 human_phenotype owl:Class HP:0000026 biolink:NamedThing Male hypogonadism Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis. tmpxe7fu0cj_hp_relaxed.owl Decreased function of male gonad MSH:D005058|SNOMEDCT_US:48723006|UMLS:C0151721 HP:0008649 human_phenotype owl:Class HP:0000025 biolink:NamedThing Functional abnormality of male internal genitalia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025898 human_phenotype owl:Class UBERON:0011314 biolink:NamedThing anterior subdivision of masseter tmpxe7fu0cj_hp_relaxed.owl masseter, anterior uberon owl:Class The anterior masseter is a separable part of the masseter muscle that is attached to anterior root of zygomatic arch.[FEED] HP:0410239 biolink:NamedThing Positive urine norcotinine test Detection of norcotinine, a metabolite of nicotine, in urine. tmpxe7fu0cj_hp_relaxed.owl 2018-10-09 23:11:26+00:00 owl:Class HP:0004804 biolink:NamedThing Congenital hemolytic anemia A form of hemolytic anemia with congenital onset. tmpxe7fu0cj_hp_relaxed.owl Neonatal hemolytic anaemia|Congenital hemolytic anaemia|Congenital haemolytic anemia|Neonatal hemolytic anemia|Congenital haemolytic anaemia MSH:D000745|SNOMEDCT_US:38911009|SNOMEDCT_US:42601008|UMLS:C0002881|UMLS:C4020827 HP:0004811|HP:0004824 human_phenotype owl:Class HP:0030805 biolink:NamedThing Absent lunula Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail. tmpxe7fu0cj_hp_relaxed.owl Lunulae absent|Absent lunulae|Lunula absent UMLS:C4280758 owl:Class CHEBI:30413 biolink:NamedThing heme A heme is any tetrapyrrolic chelate of iron. tmpxe7fu0cj_hp_relaxed.owl hemos|hemes|haem|heme|haeme|hem|Haem COMe:MOL000025|DrugBank:DB03014|KEGG:C00032 CHEBI:24491|CHEBI:14386 chebi_ontology owl:Class CHEBI:33909 biolink:NamedThing metallotetrapyrrole tmpxe7fu0cj_hp_relaxed.owl metal-tetrapyrrole|metal-tetrapyrrole complex|metallotetrapyrroles chebi_ontology owl:Class HP:0009437 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped middle bone of the middle finger|Absent/small middle bone of the middle finger UMLS:C4024361 doelkens 2009-01-14T03:41:31Z human_phenotype owl:Class HP:0009447 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped middle finger bone|Hypoplastic middle finger phalanges|Absent/small middle finger bone|Small middle finger phalanges|Short middle finger phalanges UMLS:C4024356 doelkens 2009-01-14T04:09:01Z HP:0004165|HP:0004156|HP:0004158|HP:0004164|HP:0009449 human_phenotype owl:Class HP:0025159 biolink:NamedThing Hypoautofluorescent retinal lesion Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. tmpxe7fu0cj_hp_relaxed.owl Hypo-autofluorescent retinal lesion 2016-12-04 12:54:44+00:00 HPO:probinson owl:Class HP:0012430 biolink:NamedThing Cerebral white matter hypoplasia Underdevelopment of the cerebral white matter. tmpxe7fu0cj_hp_relaxed.owl Paucity of cerebral white matter UMLS:C4020727|UMLS:C4022908 peter 2013-11-13T07:42:02Z human_phenotype owl:Class HP:0025297 biolink:NamedThing Prolonged Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection). tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 16:26:30+00:00 HPO:probinson owl:Class HP:0100433 biolink:NamedThing Broad distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Wide outermost bone of the little toe|Wide outermost bone of the pinky toe|Broad outermost bone of the 5th toe|Wide outermost bone of the pinkie toe UMLS:C4022094 human_phenotype owl:Class UBERON:0004087 biolink:NamedThing vena cava Any of the veins that carries deoxygenated blood from a part of the body into the right atrium of the heart. tmpxe7fu0cj_hp_relaxed.owl caval vein|venae cavae NCIT:C12817|AAO:0010215|GAID:547|MESH:D014684|EMAPA:18415|FMA:321896|OpenCyc:Mx4rkJQ4U6gEEdudWQACs5b6Bw|BTO:0001438|UMLS:C0042460|MA:0000068 http://upload.wikimedia.org/wikipedia/commons/3/35/Relations_of_the_aorta,_trachea,_esophagus_and_other_heart_structures.png|Heart:numlabels.png uberon owl:Class UBERON:0003479 biolink:NamedThing thoracic cavity vein A vein that is part of a thoracic cavity [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl vein of pectoral cavity|pectoral cavity vein|vein of cavity of thorax|vein of thoracic cavity|vein of cavity of chest|cavity of thorax vein|chest cavity vein|vein of chest cavity|cavity of chest vein EMAPA:37242|MA:0001903 uberon owl:Class HP:0033121 biolink:NamedThing Barking cough A cough with a characteristic sound that has been compared to a seal's bark. tmpxe7fu0cj_hp_relaxed.owl Seal-like barking cough 2020-09-03 12:36:41+00:00 peter owl:Class UBERON:0010523 biolink:NamedThing microcirculatory vessel A vessel of the microcirculature, lying between the arterioles and venules; includes capillaries (blood and lymphatic), metarterioles and arteriovenous anastomoses. tmpxe7fu0cj_hp_relaxed.owl microcirculatory vessels MESH:A07.231.432|TAO:0005251|ZFA:0005251 uberon owl:Class HP:0030059 biolink:NamedThing Mitochondrial depletion An abnormal reduction in mitochondrial DNA content of cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022659 owl:Class HP:0030242 biolink:NamedThing Portal vein thrombosis Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins. tmpxe7fu0cj_hp_relaxed.owl Blood clot in portal vein UMLS:C0155773|SNOMEDCT_US:17920008 Portal vein thrombosis (PVT) can occur within the main portal vein, or it can occur in the branches of the portal vein within the liver itself. It can be an occluding thrombus or nonoccluding, with a clot present but continued blood flow through the vessel. The sequela of a long-standing PVT is cavernous formation of the portal vein, which represents bridging collaterals around the occlusion. owl:Class HP:0030247 biolink:NamedThing Splanchnic vein thrombosis The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity). tmpxe7fu0cj_hp_relaxed.owl Blood clot in splanchnic vein UMLS:C4022560 owl:Class UBERON:0018102 biolink:NamedThing distal mesopodial bone A distal mesopodial endochondral element that is composed primarily of a bone tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0008652 biolink:NamedThing Autonomic erectile dysfunction Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system. tmpxe7fu0cj_hp_relaxed.owl Impotence due to autonomic dysfunction UMLS:C1868524 human_phenotype owl:Class HP:0009301 biolink:NamedThing Short proximal phalanx of the 4th finger Hypoplastic/small proximal phalanx of the fourth finger. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic/small proximal phalanx of the 4th finger|Short innermost bone of the ring finger|Short proximal phalanx of the fourth finger UMLS:C4021496 doelkens 2009-01-08T04:29:38Z human_phenotype owl:Class HP:0000549 biolink:NamedThing Abnormal conjugate eye movement Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. tmpxe7fu0cj_hp_relaxed.owl Disconjugate eye movements UMLS:C1845274 human_phenotype owl:Class GO:0032239 biolink:NamedThing regulation of nucleobase-containing compound transport Any process that modulates the frequency, rate or extent of the directed movement of nucleobases, nucleosides, nucleotides and nucleic acids, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl regulation of nucleobase, nucleoside, nucleotide and nucleic acid transport biological_process owl:Class UBERON:0002011 biolink:NamedThing thoracodorsal artery The thoracodorsal artery is a branch of the subscapular artery. It travels inferiorly with the thoracodorsal nerve and supplies the latissimus dorsi. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl arteria thoracodorsalis UMLS:C0933449|MA:0002065|EMAPA:37129|NCIT:C53018|FMA:66320 Latissimus:dorsi.png uberon owl:Class HP:0000145 biolink:NamedThing Transverse vaginal septum tmpxe7fu0cj_hp_relaxed.owl Transverse vaginal membrane UMLS:C1856006 human_phenotype owl:Class HP:0002656 biolink:NamedThing Epiphyseal dysplasia tmpxe7fu0cj_hp_relaxed.owl Abnormal development of the ends of long bones in arms and legs|Abnormal development of end part of bone UMLS:C4280566|UMLS:C0392476|SNOMEDCT_US:254080004 human_phenotype owl:Class HP:0033419 biolink:NamedThing Elevated circulating 3-hydroxybutyric acid concentration Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 17:23:23+00:00 peter owl:Class HP:0033417 biolink:NamedThing Elevated circulating hydroxybutyric acid concentration An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 17:19:59+00:00 peter owl:Class HP:0009917 biolink:NamedThing Persistent pupillary membrane The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0344541|SNOMEDCT_US:95500008 The tunica vasculosa lentis anterior (pupillary membrane) normally undergoes atrophy in the third trimester of pregnancy. If the membrane does not completely atrophy, then remnants of membranous structures can be observed to emrge from the iris. peter 2009-05-02T05:51:28Z human_phenotype owl:Class HP:0025380 biolink:NamedThing Increased circulating androstenedione concentration Increased concentration of androstenedione in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased serum androstenedione 2017-04-20 10:48:45+00:00 4-Androstenedione is the common precursor of the androgen and estrogen sex hormones and is produced in the adrenal glands and the gonads. HPO:probinson owl:Class HP:0030348 biolink:NamedThing Increased circulating androgen concentration An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. tmpxe7fu0cj_hp_relaxed.owl Increased circulating androgen level UMLS:C4072893 owl:Class GO:0043001 biolink:NamedThing Golgi to plasma membrane protein transport The directed movement of proteins from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0034096 biolink:NamedThing Anti-phosphatidic acid antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 02:50:23+00:00 peter owl:Class HP:0000480 biolink:NamedThing Retinal coloboma A notch or cleft of the retina. tmpxe7fu0cj_hp_relaxed.owl Hole in the back of the eye UMLS:C3540764 HP:0007808 owl:Class HP:0020081 biolink:NamedThing Pappenheimer bodies A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain). tmpxe7fu0cj_hp_relaxed.owl 2019-02-25 13:56:37+00:00 robinp owl:Class HP:0100555 biolink:NamedThing Asymmetric growth A growth pattern that displays an abnormal difference between the left and the right side. tmpxe7fu0cj_hp_relaxed.owl Uneven or disproportionate growth of one body part compared to another UMLS:C4022025 doelkens 2010-12-21T04:00:12Z human_phenotype owl:Class UBERON:0004106 biolink:NamedThing crus of ear Horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. tmpxe7fu0cj_hp_relaxed.owl crus helicis|crus of helical part of auricular cartilage|crus of helix FMA:61024|NCIT:C32410|UMLS:C0229319 uberon owl:Class UBERON:0016467 biolink:NamedThing antitragus The antitragus is a feature of human ear anatomy. It is a small tubercle that points anteriorly. It is separated from the tragus by the intertragic notch. tmpxe7fu0cj_hp_relaxed.owl antitragal part of pinna NCIT:C32121|FMA:61001 uberon owl:Class HP:0012058 biolink:NamedThing Nodular melanoma A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:254731001|SNOMEDCT_US:2142002|UMLS:C0334424 peter 2012-08-01T02:08:50Z human_phenotype owl:Class HP:0100742 biolink:NamedThing Vascular neoplasm A benign or malignant neoplasm (tumour) originating in the vascular system. tmpxe7fu0cj_hp_relaxed.owl Blood vessel tumour|Blood vessel tumor UMLS:C0282607|UMLS:C0027668|SNOMEDCT_US:115235003|MSH:D009383|NCIT:C3262|SNOMEDCT_US:126736007|SNOMEDCT_US:699605009|MSH:D019043 doelkens 2011-06-06T06:08:26Z human_phenotype owl:Class GO:0140096 biolink:NamedThing catalytic activity, acting on a protein Catalytic activity that acts to modify a protein. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/14225 pg 2017-09-14T10:32:59Z molecular_function owl:Class HP:0009783 biolink:NamedThing Biceps aplasia Absence of the biceps muscle. tmpxe7fu0cj_hp_relaxed.owl Absent biceps UMLS:C3805764 peter 2009-02-03T04:57:47Z human_phenotype owl:Class HP:0000609 biolink:NamedThing Optic nerve hypoplasia Underdevelopment of the optic nerve. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic optic nerves|Underdeveloped optic nerves SNOMEDCT_US:95499004|UMLS:C0338502 HP:0007273 owl:Class HP:0012135 biolink:NamedThing Abnormal granulocytopoietic cell morphology An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cells of the granulocytic lineage UMLS:C4023031 peter 2012-09-16T08:02:11Z human_phenotype owl:Class HP:0009655 biolink:NamedThing Patchy sclerosis of thumb phalanx An uneven increase in bone density of one or more of the phalanges of the thumb. tmpxe7fu0cj_hp_relaxed.owl Patchy sclerosis of the phalanges of the thumb|Uneven increase in bone density in thumb bone UMLS:C4021413 doelkens 2009-01-29T05:29:26Z human_phenotype owl:Class UBERON:0014874 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit 4 A distal epiphysis that is part of a distal phalanx of pedal digit 4. tmpxe7fu0cj_hp_relaxed.owl head of distal phalanx of fourth digit of foot|distal end of distal phalanx of fourth toe|distal epiphysis of distal phalanx of pedal digit IV|head of distal phalanx of fourth toe|ungal tuberosity of distal phalanx of fourth toe|distal epiphysis of distal phalanx of fourth toe FMA:33091 uberon owl:Class UBERON:0004784 biolink:NamedThing heart ventricle wall An anatomical wall that is part of a cardiac ventricle [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl wall of cardiac ventricle|ventricular wall|anatomical wall of ventricle of heart|cardiac ventricle wall|anatomical wall of cardiac ventricle|cardiac ventricle anatomical wall|ventricle of heart wall|lower chamber of heart anatomical wall|wall of ventricle|wall of lower chamber of heart|ventricle of heart anatomical wall|wall of heart ventricle|heart ventricle anatomical wall|anatomical wall of heart ventricle|wall of ventricle of heart|anatomical wall of lower chamber of heart|lower chamber of heart wall FMA:13884|NCIT:C119295|MA:0002791 uberon owl:Class HP:0009968 biolink:NamedThing Partial duplication of the distal phalanx of the 3rd finger Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. tmpxe7fu0cj_hp_relaxed.owl Notched outermost bone of the middle finger|Bifid terminal phalanx of the 3rd finger|Partial duplication of the outermost bone of the middle finger UMLS:C4021360 doelkens 2009-05-26T12:49:59Z human_phenotype owl:Class HP:0007900 biolink:NamedThing Hypoplastic lacrimal duct tmpxe7fu0cj_hp_relaxed.owl Underdeveloped tear duct UMLS:C1968574 human_phenotype owl:Class GO:0032871 biolink:NamedThing regulation of karyogamy Any process that modulates the frequency, rate or extent of karyogamy, the creation of a single nucleus from multiple nuclei as a result of membrane fusion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1903353 biolink:NamedThing regulation of nucleus organization Any process that modulates the frequency, rate or extent of nucleus organization. tmpxe7fu0cj_hp_relaxed.owl regulation of nucleus organization and biogenesis|regulation of nuclear morphology|regulation of nuclear organization|regulation of nuclear organisation|regulation of nuclear organization and biogenesis hjd 2014-08-20T19:36:16Z biological_process owl:Class HP:0010540 biolink:NamedThing Advanced pneumatization of cranial sinuses A degree of pneumatization that is increased compared to age-related norms. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023793 peter 2009-09-23T10:04:21Z human_phenotype owl:Class UBERON:0008463 biolink:NamedThing postzygapophysis of thoracic vertebra An postzygapophysis that is part of a thoracic vertebra. tmpxe7fu0cj_hp_relaxed.owl inferior apophyseal process|caudal articular process of thoracic vertebra|processus articularis (zygapophysis) thoracicus inferior|inferior articular process of thoracic vertebra|inferior zygapophysis FMA:9156 uberon owl:Class HP:0011630 biolink:NamedThing Complete diaphragmatic absence of pericardium No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023259 peter 2012-04-08T10:06:57Z human_phenotype owl:Class GO:0045620 biolink:NamedThing negative regulation of lymphocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl downregulation of lymphocyte differentiation|negative regulation of lymphocyte development|inhibition of lymphocyte differentiation|down-regulation of lymphocyte differentiation|down regulation of lymphocyte differentiation Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. biological_process owl:Class HP:0032905 biolink:NamedThing Focal sexual automatism seizure A type of focal automatism seizure characterized by involuntary sexual behavior at onset. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0034133 biolink:NamedThing Anti-GM3 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:58:47+00:00 peter owl:Class GO:1903770 biolink:NamedThing negative regulation of beta-galactosidase activity Any process that stops, prevents or reduces the frequency, rate or extent of beta-galactosidase activity. tmpxe7fu0cj_hp_relaxed.owl downregulation of lactozym|negative regulation of S 2107|down regulation of beta-D-galactanase activity|inhibition of hydrolact|negative regulation of maxilact|down regulation of S 2107|downregulation of beta-D-galactoside galactohydrolase activity|inhibition of trilactase activity|negative regulation of beta-D-lactosidase activity|inhibition of lactose hydrolysis|negative regulation of beta-lactosidase activity|negative regulation of beta-D-galactoside galactohydrolase activity|down-regulation of beta-galactosidase activity|downregulation of trilactase activity|down-regulation of lactose hydrolysis|downregulation of S 2107|down-regulation of S 2107|downregulation of beta-galactosidase activity|down-regulation of exo-(1->4)-beta-D-galactanase activity|down regulation of hydrolact|inhibition of exo-(1->4)-beta-D-galactanase activity|down regulation of lactozym|down regulation of oryzatym|down-regulation of hydrolact|inhibition of S 2107|down regulation of exo-(1->4)-beta-D-galactanase activity|inhibition of beta-D-galactanase activity|downregulation of sumiklat|inhibition of oryzatym|downregulation of oryzatym|down-regulation of beta-lactosidase activity|down-regulation of beta-D-lactosidase activity|down regulation of beta-D-lactosidase activity|downregulation of exo-(1->4)-beta-D-galactanase activity|down-regulation of oryzatym|downregulation of beta-D-lactosidase activity|inhibition of beta-galactosidase activity|negative regulation of hydrolact|down-regulation of lactozym|down regulation of beta-galactosidase activity|downregulation of beta-lactosidase activity|negative regulation of trilactase activity|down-regulation of maxilact|downregulation of lactose hydrolysis|down-regulation of beta-D-galactoside galactohydrolase activity|downregulation of maxilact|negative regulation of sumiklat|negative regulation of lactose hydrolysis|downregulation of beta-D-galactanase activity|inhibition of beta-lactosidase activity|inhibition of lactozym|down regulation of sumiklat|negative regulation of beta-D-galactanase activity|down regulation of trilactase activity|inhibition of beta-D-lactosidase activity|downregulation of hydrolact|inhibition of beta-D-galactoside galactohydrolase activity|down-regulation of sumiklat|negative regulation of exo-(1->4)-beta-D-galactanase activity|down regulation of beta-D-galactoside galactohydrolase activity|inhibition of maxilact|inhibition of sumiklat|negative regulation of lactozym|down regulation of maxilact|down-regulation of beta-D-galactanase activity|negative regulation of oryzatym|down-regulation of trilactase activity|down regulation of beta-lactosidase activity|down regulation of lactose hydrolysis nc 2015-01-06T10:53:22Z biological_process owl:Class GO:0051346 biolink:NamedThing negative regulation of hydrolase activity Any process that stops or reduces the rate of hydrolase activity, the catalysis of the hydrolysis of various bonds. tmpxe7fu0cj_hp_relaxed.owl hydrolase inhibitor|inhibition of hydrolase activity|down-regulation of hydrolase activity|down regulation of hydrolase activity|downregulation of hydrolase activity biological_process owl:Class HP:0041075 biolink:NamedThing Chronic partially decreased circulating IgG3 A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood. tmpxe7fu0cj_hp_relaxed.owl Chronic partially decreased IgG3 in blood owl:Class HP:0041072 biolink:NamedThing Chronic decreased circulating IgG3 A lasting decrease of immunoglobulin G3 (IgG3) in the blood. tmpxe7fu0cj_hp_relaxed.owl Chronic decreased IgG3 in blood owl:Class HP:0032161 biolink:NamedThing Coccidioidal meningitis A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges. tmpxe7fu0cj_hp_relaxed.owl 2018-12-09 12:30:16+00:00 Coccidioides species are soil-dwelling fungi that are the causative pathogen of coccidioidomycosis, also known as Valley fever. Infection occurs from inhalation of fungal spores that become airborne from soil in endemic regions. Sixty percent of infections are asymptomatic. The rate of dissemination from primary infection to extrapulomonary sites is higher in immune-compromised individuals. A common site of dissemination is to the basilar meninges, resulting in coccidioidal meningitis. peter owl:Class HP:0002958 biolink:NamedThing Immune dysregulation Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. tmpxe7fu0cj_hp_relaxed.owl Unregulated immune response|Immune dysregulation UMLS:C1844666 human_phenotype owl:Class HP:0041197 biolink:NamedThing Fractured proximal epiphysis of first metacarpal bone A partial or complete breakage of the proximal epiphysis of first metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl bone proximal epiphysis of first metacarpal bone owl:Class CHEBI:64709 biolink:NamedThing organic acid Any organic molecular entity that is acidic and contains carbon in covalent linkage. tmpxe7fu0cj_hp_relaxed.owl organic acids chebi_ontology owl:Class HP:0100720 biolink:NamedThing Hypoplasia of the ear cartilage tmpxe7fu0cj_hp_relaxed.owl Underdeveloped ear cartilage UMLS:C4021986 doelkens 2011-06-06T02:17:54Z human_phenotype owl:Class HP:0003388 biolink:NamedThing Easy fatigability Increased susceptibility to fatigue. tmpxe7fu0cj_hp_relaxed.owl Tired easily UMLS:C1837098|SNOMEDCT_US:248268002|UMLS:C0424585 Fatigue describes the inability to continue performing a task after multiple repetitions. human_phenotype owl:Class HP:0004302 biolink:NamedThing Functional motor deficit tmpxe7fu0cj_hp_relaxed.owl Functional motor problems UMLS:C4025360 peter 2008-02-20T11:52:00Z human_phenotype owl:Class GO:0090166 biolink:NamedThing Golgi disassembly A cellular process that results in the breakdown of a Golgi apparatus that contributes to Golgi inheritance. tmpxe7fu0cj_hp_relaxed.owl tb 2009-12-08T09:15:11Z biological_process owl:Class HP:0033571 biolink:NamedThing Peripheral lung neovascularity The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy. tmpxe7fu0cj_hp_relaxed.owl 2021-01-24 13:48:10+00:00 peter owl:Class HP:0011566 biolink:NamedThing Cor triatriatum dexter A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue. tmpxe7fu0cj_hp_relaxed.owl Cor triatriatum dextrum SNOMEDCT_US:274947007|Fyler:2854|UMLS:C0344697 Cor triatriatum dexter is a Latin phrase meaning that the heart (cor) has three atria (triatriatum) whereby the 'third' atrium is on the right (dexter) side. peter 2012-04-08T08:02:56Z human_phenotype owl:Class GO:1901190 biolink:NamedThing regulation of formation of translation initiation ternary complex Any process that modulates the frequency, rate or extent of formation of translation initiation ternary complex. tmpxe7fu0cj_hp_relaxed.owl regulation of translation initiation ternary complex assembly ss 2012-07-25T02:26:58Z biological_process owl:Class GO:0002581 biolink:NamedThing negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. tmpxe7fu0cj_hp_relaxed.owl down regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of peptide or polysaccharide antigen processing and presentation via MHC class II|down-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|downregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|inhibition of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II biological_process owl:Class UBERON:0005874 biolink:NamedThing 3rd arch pharyngeal cleft A groove that is situated between the 3rd and 4th pharyngeal arch. tmpxe7fu0cj_hp_relaxed.owl branchial groove of 3rd arch|3rd pharyngeal cleft|3rd branchial cleft|3rd arch groove ectoderm|3rd arch branchial groove|3rd pharyngeal groove|3rd pharyngeal groove ectoderm EHDAA:1082|VHOG:0000973|EMAPA:16581|EHDAA2:0000074|VHOG:0000572 uberon owl:Class GO:1904527 biolink:NamedThing negative regulation of microtubule binding Any process that stops, prevents or reduces the frequency, rate or extent of microtubule binding. tmpxe7fu0cj_hp_relaxed.owl negative regulation of microtubule severing activity|negative regulation of microtubule/chromatin interaction|down regulation of microtubule binding|inhibition of microtubule/chromatin interaction|downregulation of microtubule severing activity|inhibition of microtubule binding|downregulation of microtubule/chromatin interaction|downregulation of microtubule binding|down-regulation of microtubule binding|down-regulation of microtubule severing activity|down regulation of microtubule severing activity|down-regulation of microtubule/chromatin interaction|inhibition of microtubule severing activity|down regulation of microtubule/chromatin interaction als 2015-07-30T10:32:29Z biological_process owl:Class GO:0032350 biolink:NamedThing regulation of hormone metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0032438 biolink:NamedThing melanosome organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a melanosome. A melanosome is a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. tmpxe7fu0cj_hp_relaxed.owl melanosome organisation|melanosome organization and biogenesis biological_process owl:Class HP:0010208 biolink:NamedThing Patchy sclerosis of proximal toe phalanx Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in innermost toe bone|Patchy sclerosis of the proximal phalanges of the toes UMLS:C4021313 doelkens 2009-05-29T01:54:18Z human_phenotype owl:Class GO:1900141 biolink:NamedThing regulation of oligodendrocyte apoptotic process Any process that modulates the frequency, rate or extent of oligodendrocyte apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of oligodendrocyte apoptosis yaf 2012-03-06T10:22:45Z biological_process owl:Class HP:0011700 biolink:NamedThing Automatic atrial tachycardia Chronic supraventricular tachycardia predominantly seen in childhood. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:233892002|MSH:D013612|UMLS:C0039234 peter 2012-04-10T11:19:33Z human_phenotype owl:Class CL:0000038 biolink:NamedThing erythroid progenitor cell A progenitor cell committed to the erythroid lineage. tmpxe7fu0cj_hp_relaxed.owl erythroid stem cell|BFU-E|burst forming unit erythroid|blast forming unit erythroid|CFU-E|colony forming unit erythroid BTO:0004911 cell owl:Class HP:0010008 biolink:NamedThing Duplication of the middle phalanx of hand This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. tmpxe7fu0cj_hp_relaxed.owl Duplication of the middle bones of hand|Partial/complete duplication of the middle phalanges of the hand UMLS:C4021346 doelkens 2009-05-26T05:29:46Z human_phenotype owl:Class HP:0010113 biolink:NamedThing Absent hallux epiphysis Failure to form (agenesis) of one or more epiphyses of the big toe. tmpxe7fu0cj_hp_relaxed.owl Absent end part of big toe bone|Absent epiphyses of the hallux UMLS:C4020906 doelkens 2009-05-29T01:16:38Z human_phenotype owl:Class HP:0002718 biolink:NamedThing Recurrent bacterial infections Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. tmpxe7fu0cj_hp_relaxed.owl Recurrent pyogenic infections|Frequent pyogenic infections|Increased susceptibility to bacterial infections|Prone to bacterial infection|Bacterial infections, recurrent|Susceptibility to pyogenic infection|Frequent bacterial infections|Recurrent bacterial infections|Recurrent major bacterial infections UMLS:C2748958|UMLS:C4020846|UMLS:C1844383|SNOMEDCT_US:428875002 HP:0005393|HP:0005391|HP:0005361|HP:0005367|HP:0005410|HP:0005355 human_phenotype owl:Class UBERON:0036225 biolink:NamedThing respiratory system gland Any gland that is part os the respiratory system. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class PATO:0002287 biolink:NamedThing increased elasticity An elasticity which is relatively high. tmpxe7fu0cj_hp_relaxed.owl 2011-03-30T11:50:21Z quality owl:Class HP:0009122 biolink:NamedThing Aplasia/hypoplasia affecting bones of the axial skeleton Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024585 peter 2008-04-05T11:29:00Z human_phenotype owl:Class UBERON:0000488 biolink:NamedThing atypical epithelium Epithelium that consists of epithelial cells not arranged in one ore more layers. tmpxe7fu0cj_hp_relaxed.owl atypical epithelia|heterogenous epithelium BILA:0000071|XAO:0004004|CARO:0000071|HAO:0000071|AEO:0000071|TAO:0001493|ZFA:0001493|EHDAA2:0003071|FMA:61741|AAO:0010057 uberon owl:Class UBERON:0035818 biolink:NamedThing visceral fat Any fat deposit surrounding a visceral organ. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0032814 biolink:NamedThing Neonatal electro-clinical clonic seizure Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric. tmpxe7fu0cj_hp_relaxed.owl Neonatal electroclinical clonic seizure peter owl:Class HP:0005979 biolink:NamedThing Metabolic ketoacidosis A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake. tmpxe7fu0cj_hp_relaxed.owl Starvation ketoacidosis UMLS:C1854704|MSH:D007662 HP:0005971 owl:Class HP:0001942 biolink:NamedThing Metabolic acidosis Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:59455009|MSH:D000138|UMLS:C0220981 The Henderson-Hasselbalch method defines metabolic acidosis by the presence of an acid-base imbalance associated with a plasma bicarbonate concentration below 20 mmol/L. The association of this imbalance with decreased pH is called acidemia, which is often described as severe when the pH is equal to or below 7.20. Arterial blood gas measurements can be performed in patients with a decreased plasma bicarbonate level so as to eliminate respiratory alkalosis, confirm the diagnosis of metabolic acidosis, and test for mixed acidosis. HP:0004895|HP:0004907 human_phenotype owl:Class HP:0033642 biolink:NamedThing Mitral valve leaflet calcification Deposition of calcium salts in the leaflets (cusps) of the mitral valve. tmpxe7fu0cj_hp_relaxed.owl 2021-02-03 13:41:58+00:00 peter owl:Class GO:1905755 biolink:NamedThing protein localization to cytoplasmic microtubule A process in which a protein is transported to, or maintained in, a location within a cytoplasmic microtubule. tmpxe7fu0cj_hp_relaxed.owl protein localisation to cytoplasmic microtubule mah 2016-12-12T15:31:07Z biological_process owl:Class HP:0031429 biolink:NamedThing Decreased circulating osteocalcin level A reduced level of osteocalcin in the blood. tmpxe7fu0cj_hp_relaxed.owl 2017-09-16 11:33:11+00:00 peter owl:Class GO:0071103 biolink:NamedThing DNA conformation change A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule. tmpxe7fu0cj_hp_relaxed.owl DNA conformation modification mah 2009-11-09T11:36:34Z biological_process owl:Class HP:0012269 biolink:NamedThing Abnormal muscle glycogen content Any anomaly in the amount of glycogen in muscle tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022980 Glycogen functions as a secondary short term energy storage in muscle. peter 2013-04-07T02:04:03Z human_phenotype owl:Class GO:0010701 biolink:NamedThing positive regulation of norepinephrine secretion Any process that increases the frequency, rate or extent of the regulated release of norepinephrine. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0014048 biolink:NamedThing regulation of glutamate secretion Any process that modulates the frequency, rate or extent of the controlled release of glutamate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0003241 biolink:NamedThing External genital hypoplasia Underdevelopment of part or all of the external reproductive organs. tmpxe7fu0cj_hp_relaxed.owl Small genitalia|Underdevelopment of external reproductive organs|Hypogenitalism UMLS:C1855333 Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism. HP:0003245|HP:0000788 human_phenotype owl:Class CL:0002553 biolink:NamedThing fibroblast of lung A fibroblast that is part of lung. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-0575|BTO:0000764 tmeehan 2011-02-28T05:11:03Z cell owl:Class HP:0041215 biolink:NamedThing Fractured fused metatarsal bones 2-4 A partial or complete breakage of the fused metatarsal bones 2-4. tmpxe7fu0cj_hp_relaxed.owl bone fused metatarsal bones 2-4 owl:Class HP:0007448 biolink:NamedThing Hyperkeratosis over edematous areas tmpxe7fu0cj_hp_relaxed.owl UMLS:C1835253 human_phenotype owl:Class HP:0006690 biolink:NamedThing Myocardial calcification Calcium deposition in the myocardium. tmpxe7fu0cj_hp_relaxed.owl Calcified myocardium Fyler:1889|UMLS:C1096561 Calcification affecting the muscle layer of the heart. owl:Class GO:0070661 biolink:NamedThing leukocyte proliferation The expansion of a leukocyte population by cell division. tmpxe7fu0cj_hp_relaxed.owl mah 2009-05-28T05:25:28Z biological_process owl:Class HP:0012767 biolink:NamedThing Abnormal placental size A deviation from normal size of the placenta. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022732 peter 2014-04-07T12:11:29Z human_phenotype owl:Class HP:0007623 biolink:NamedThing Pigmentation anomalies of sun-exposed skin tmpxe7fu0cj_hp_relaxed.owl Abnormal pigmentation in sun-exposed skin UMLS:C4024826 human_phenotype owl:Class HP:0032878 biolink:NamedThing Focal impaired awareness sensory seizure with cephalic sensation A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0410014 biolink:NamedThing Abnormality of ganglion An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073193 owl:Class HP:0025397 biolink:NamedThing Mosaic attenuation pattern on pulmonary HRCT A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography. tmpxe7fu0cj_hp_relaxed.owl 2017-04-22 13:10:01+00:00 Mosaic attenuation pattern may represent patchy interstitial disease, obliterative small airways disease, or occlusive small vascular disease. HPO:probinson owl:Class UBERON:4000115 biolink:NamedThing mineralized bone tissue Bone tissue mineralized with hydroxyapatite. tmpxe7fu0cj_hp_relaxed.owl vertebrate_skeletal_anatomy_curators uberon owl:Class HP:0100386 biolink:NamedThing Aplasia of the proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Absent innermost bone of the little toe|Absent innermost bone of the pinkie toe|Absent innermost bone of the pinky toe UMLS:C4022108 human_phenotype owl:Class HP:0011048 biolink:NamedThing Agenesis of permanent mandibular central incisor Agenesis of lower secondary incisor. tmpxe7fu0cj_hp_relaxed.owl Absence of permanent lower front tooth|Absence of permanent mandibular central incisor|Failure of development of permanent mandibular central incisor|Missing permanent lower front tooth|Missing permanent mandibular central incisor|Agenesis of adult mandibular central incisor|Missing adult lower central incisor|Absence of permanent lower central incisor|Missing permanent lower central incisor UMLS:C4023569|UMLS:C4280354 peter 2011-03-10T11:16:08Z human_phenotype owl:Class GO:0031410 biolink:NamedThing cytoplasmic vesicle A vesicle found in the cytoplasm of a cell. tmpxe7fu0cj_hp_relaxed.owl cytoplasmic, membrane-bounded vesicle|cytoplasmic membrane-enclosed vesicle|cytoplasmic membrane bounded vesicle NIF_Subcellular:sao180601769 GO:0016023 cellular_component owl:Class HP:0002902 biolink:NamedThing Hyponatremia An abnormally decreased sodium concentration in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood sodium levels MSH:D007010|UMLS:C0020625|SNOMEDCT_US:89627008 human_phenotype owl:Class HP:0030094 biolink:NamedThing Reduced muscle fiber laminin beta 1 A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. tmpxe7fu0cj_hp_relaxed.owl Reduced muscle fibre laminin beta 1 UMLS:C4022649 owl:Class HP:0030093 biolink:NamedThing Abnormal muscle fiber laminin beta 1 A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre laminin beta 1 UMLS:C4022650 owl:Class HP:0001897 biolink:NamedThing Normocytic anemia A kind of anemia in which the volume of the red blood cells is normal. tmpxe7fu0cj_hp_relaxed.owl Normocytic anaemia SNOMEDCT_US:300980002|UMLS:C0085577 In normocytic anemia, the mean corpuscular volume (MCV) is within normal limits (80-100 fl in adults). human_phenotype owl:Class GO:0006551 biolink:NamedThing leucine metabolic process The chemical reactions and pathways involving leucine, 2-amino-4-methylpentanoic acid. tmpxe7fu0cj_hp_relaxed.owl leucine metabolism biological_process owl:Class HP:0003915 biolink:NamedThing Lytic defects of the humeral metaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025512 human_phenotype owl:Class HP:0012307 biolink:NamedThing Spatulate ribs Ribs that are increased in width and taper to the posterior ends. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856637 This morphological anomaly of the rib has been compared to a canoe panel or a spatula, whence the name. peter 2013-08-10T10:15:15Z human_phenotype owl:Class HP:0012120 biolink:NamedThing Methylmalonic aciduria Increased concentration of methylmalonic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl High blood methylmalonic acid levels|Methymalonicaciduria MSH:C537358|UMLS:C1855119 Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. hecht 2012-09-16T06:02:23Z human_phenotype owl:Class HP:0010565 biolink:NamedThing Aplasia/Hypoplasia of the Epiglottis This term applies if the Epiglottis is absent or hypoplastic. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023790 sandra1 2009-10-16T02:27:31Z human_phenotype owl:Class HP:0012053 biolink:NamedThing Decreased circulating calcifediol concentration A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3. tmpxe7fu0cj_hp_relaxed.owl Low serum calcidiol|Low serum 25-hydroxycholecalciferol|Low serum calcifediol|Decreased 25-hydroxyvitamin D3 UMLS:C4023064 peter 2012-08-01T01:04:42Z owl:Class HP:0040334 biolink:NamedThing Purulent rhinitis Chronic rhinitis accompanied by pus formation. tmpxe7fu0cj_hp_relaxed.owl An infection of the nasal mucosa associated with pus formation. (Often secondary to a systemic infection, such as measles) ORCID:0000-0002-5316-1399 owl:Class HP:0002257 biolink:NamedThing Chronic rhinitis Chronic inflammation of the nasal mucosa. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:86094006|UMLS:C0008711 human_phenotype owl:Class GO:1901403 biolink:NamedThing positive regulation of tetrapyrrole metabolic process Any process that activates or increases the frequency, rate or extent of tetrapyrrole metabolic process. tmpxe7fu0cj_hp_relaxed.owl upregulation of tetrapyrrole metabolism|upregulation of tetrapyrrole metabolic process|up regulation of tetrapyrrole metabolic process|up regulation of tetrapyrrole metabolism|activation of tetrapyrrole metabolism|positive regulation of tetrapyrrole metabolism|up-regulation of tetrapyrrole metabolic process|activation of tetrapyrrole metabolic process|up-regulation of tetrapyrrole metabolism tt 2012-10-01T14:35:29Z biological_process owl:Class HP:0040114 biolink:NamedThing Absence of the reflex of the tensor tympani muscle tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022430 HPO:skoehler owl:Class HP:0040120 biolink:NamedThing Abnormality of the reflex of the tensor tympani muscle tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022427 HPO:skoehler owl:Class CHEBI:78113 biolink:NamedThing fatty acid anion 3:0 Any saturated fatty acid anion containing 3 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl fatty acid 3:0 -1 C3H5O2 73.07060 73.02895 [O-]C([*])=O chebi_ontology owl:Class HP:0012464 biolink:NamedThing Decreased transferrin saturation A below normal level of saturation of serum transferrin with iron. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0919785 Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation. peter 2013-11-24T12:51:51Z human_phenotype owl:Class GO:0033371 biolink:NamedThing T cell secretory granule organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a secretory granule in a T cell. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. tmpxe7fu0cj_hp_relaxed.owl T cell secretory granule organization and biogenesis|T-cell secretory granule organization|T-lymphocyte secretory granule organization|T cell secretory granule organisation|T lymphocyte secretory granule organization|T-lymphocyte secretory granule maturation biological_process owl:Class HP:0008633 biolink:NamedThing Agonadism Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). tmpxe7fu0cj_hp_relaxed.owl Absent gonadal tissue|Gonadal agenesis UMLS:C4024652 Gonadal agenesis refers to the lack of development of gonads during fetal development; it may not be possible clinically to determine if gonal tissue was present at any point of development. For this reason, we regard agonadism and gonadal agenesis as synonymous. owl:Class CHEBI:57560 biolink:NamedThing long-chain fatty acid anion A fatty acid anion with a chain length of C13 to C22. tmpxe7fu0cj_hp_relaxed.owl a long-chain carboxylate|long-chain fatty acid anions|a long-chain fatty acid -1 CO2R 44.010 43.98983 [O-]C([*])=O CHEBI:13652 chebi_ontology owl:Class GO:1903232 biolink:NamedThing melanosome assembly The aggregation, arrangement and bonding together of a set of components to form a melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. tmpxe7fu0cj_hp_relaxed.owl melanosome formation bf 2014-07-31T10:41:38Z biological_process owl:Class HP:0033744 biolink:NamedThing Global cerebellar dysplasia A type of cerebellar dysplasia that affects the entire cerebellum. tmpxe7fu0cj_hp_relaxed.owl 2021-04-16 21:54:51+00:00 peter owl:Class NCBITaxon:88770 biolink:NamedThing Panarthropoda tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010027 biolink:NamedThing dorsal part of pharyngeal pouch 4 tmpxe7fu0cj_hp_relaxed.owl dorsal pharyngeal pouch 4|dorsal branchial pouch 4 endoderm|dorsal 4th branchial pouch|dorsal pharyngeal pouch 4 endoderm uberon owl:Class HP:0032400 biolink:NamedThing Dysgyria with thickened cortex An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 17:06:39+00:00 peter owl:Class HP:0012870 biolink:NamedThing Vanishing testis A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction. tmpxe7fu0cj_hp_relaxed.owl Vanishing testis|Testicular regression syndrome MSH:C537770|UMLS:C0266427|SNOMEDCT_US:53599007 hecht 2014-06-09T11:00:13Z human_phenotype owl:Class UBERON:0016410 biolink:NamedThing male breast A breast that is part of a male organism. tmpxe7fu0cj_hp_relaxed.owl mamma masculina FMA:19901|NCIT:C33048 uberon owl:Class UBERON:0000310 biolink:NamedThing breast The upper ventral region of the torso of an organism. tmpxe7fu0cj_hp_relaxed.owl mammary region|mammary part of chest|mamma UMLS:C0006141|MESH:D001940|CALOHA:TS-2083|NCIT:C12971|BTO:0000149|GAID:33|FMA:9601|OpenCyc:Mx4rvVjV7ZwpEbGdrcN5Y29ycA|EV:0100124|galen:Breast http://upload.wikimedia.org/wikipedia/commons/6/6e/Closeup_of_female_breast.jpg uberon owl:Class The breasts of a female primate's body contain the mammary glands, which secrete milk used to feed infants. Both men and women develop breasts from the same embryological tissues. However, at puberty female sex hormones, mainly estrogens, promote breast development, which does not happen with men. As a result women's breasts become more prominent than men's. UBERON:0036295 biolink:NamedThing renal pelvis/ureter The upper tract of the renal system. The renal pelvis is the large cavity in the middle of each kidney. Urine drains from each kidney through a long tube called the ureter, into the bladder, where it is stored until it is passed from the body through the urethra. tmpxe7fu0cj_hp_relaxed.owl renal pelvis and ureter|renal pelvis plus ureter NCIT:C54419 uberon owl:Class GO:1902564 biolink:NamedThing negative regulation of neutrophil activation Any process that stops, prevents or reduces the frequency, rate or extent of neutrophil activation. tmpxe7fu0cj_hp_relaxed.owl downregulation of neutrophil activation|inhibition of neutrophil activation|down regulation of neutrophil activation|down-regulation of neutrophil activation ecu 2013-12-10T15:33:16Z biological_process owl:Class HP:5000035 biolink:NamedThing Anti-TRIM46 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46). tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-3387-1836 owl:Class HP:0007965 biolink:NamedThing Undetectable visual evoked potentials tmpxe7fu0cj_hp_relaxed.owl Undetectable VEP|Absence of visual evoked potentials|Non-detectable VEP UMLS:C1850069 human_phenotype owl:Class UBERON:0002166 biolink:NamedThing endocardium of atrium Endocardium that is part of the atrium. tmpxe7fu0cj_hp_relaxed.owl atrium of heart endocardium|endocardium of atrium of heart|cardiac atrium endocardium|Cardiac atria endocardium|endocardium of heart atrium|endocardium of cardiac atrium|atrial endocardium|heart atrium endocardium|atrium endocardial tissue|endocardium of Cardiac atria|atrium endocardium SCTID:192001005|EMAPA:32745|TAO:0002169|VHOG:0000606|MA:0000077|FMA:7284|ZFA:0001614 uberon owl:Class HP:0002226 biolink:NamedThing White eyebrow White color (lack of pigmentation) of the eyebrow. tmpxe7fu0cj_hp_relaxed.owl Blonde eyebrow|Depigmented eyebrow|White eyebrow|Pale eyebrow|Hypopigmented eyebrow|Grey eyebrow UMLS:C1836737|UMLS:C4280579|UMLS:C4280580 HP:0002228|HP:0004536 owl:Class CHEBI:26432 biolink:NamedThing pyrimidine nucleobase A nucleobase whose skeleton is derived from pyrimidine. tmpxe7fu0cj_hp_relaxed.owl pyrimidine nucleobases|pyrimidine nucleobase|a pyrimidine nucleobase|pyrimidine bases 0 C4HN2R4 77.064 77.01397 N1C(=C(C(=NC1=*)*)*)* chebi_ontology owl:Class PR:000003964 biolink:NamedThing intestinal alkaline phosphatase A protein that is a translation product of the human ALPI gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl IAP|ALPI Category=gene. protein owl:Class UBERON:0004176 biolink:NamedThing external genitalia The external genitalia are the outer sex organs, such as the penis or vulva in mammals. tmpxe7fu0cj_hp_relaxed.owl external sex organ|external genitalia|external reproductive organ SCTID:362207005|FMA:45643 TODO: make a subdivision of reproductive system. Relabel. See https://github.com/obophenotype/uberon/issues/547 uberon owl:Class CHEBI:23449 biolink:NamedThing cyclic peptide tmpxe7fu0cj_hp_relaxed.owl Cyclopeptid|cyclic peptides|peptide cyclique|peptido ciclico|Zyklopeptid chebi_ontology owl:Class HP:0011092 biolink:NamedThing Mulberry molar Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry. tmpxe7fu0cj_hp_relaxed.owl Syphilitic permanent first molar UMLS:C0266024|SNOMEDCT_US:109436001 peter 2011-03-11T02:25:56Z owl:Class HP:0500271 biolink:NamedThing Decreased proportion of gamma-delta T cells Decreased proportion of gamma-delta T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Reduced proportion of gamma-delta T cells|Decreased proportion of gamma-delta T lymphocytes|Decreased proportion of gamma-delta T-cells|Decreased proportion of gammadelta T cells|Decreased proportion of gamma-delta T-lymphocytes 2020-05-19 15:10:45+00:00 owl:Class HP:0025648 biolink:NamedThing Steroid-sensitive nephrotic syndrome with infrequent relapses A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. tmpxe7fu0cj_hp_relaxed.owl No biopsy needed. Relapses are treated with steroids according to local protocols. peterrobinson owl:Class HP:0009906 biolink:NamedThing Aplasia/Hypoplasia of the earlobes Absence or underdevelopment of the ear lobes. tmpxe7fu0cj_hp_relaxed.owl Absent/small ear lobes|Absent/underdeveloped ear lobes UMLS:C1851792 peter 2009-05-01T02:55:12Z owl:Class CHEBI:30661 biolink:NamedThing thyronine A tyrosine derivative where the phenolic hydrogen of tyrosine is substituted by 4-hydroxyphenyl. tmpxe7fu0cj_hp_relaxed.owl 2-amino-3-[4-(4-hydroxyphenoxy)phenyl]propanoic acid|thyronine|O-(4-hydroxyphenyl)-DL-tyrosine 0 C15H15NO4 InChI=1S/C15H15NO4/c16-14(15(18)19)9-10-1-5-12(6-2-10)20-13-7-3-11(17)4-8-13/h1-8,14,17H,9,16H2,(H,18,19) KKCIOUWDFWQUBT-UHFFFAOYSA-N 273.28394 273.10011 NC(Cc1ccc(Oc2ccc(O)cc2)cc1)C(O)=O Gmelin:419747|Reaxys:2947040|Beilstein:2947040|CAS:1034-10-2|PMID:15643926 chebi_ontology owl:Class CHEBI:26155 biolink:NamedThing plant growth regulator A chemical, natural or artificial, that can affect the rate of growth of a plant. tmpxe7fu0cj_hp_relaxed.owl plant growth regulators chebi_ontology owl:Class CHEBI:39317 biolink:NamedThing growth regulator Any chemical substance that inhibits the life-cycle of an organism. tmpxe7fu0cj_hp_relaxed.owl growth regulators chebi_ontology owl:Class HP:0010383 biolink:NamedThing Aplasia/Hypoplasia of the phalanges of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Absent/small pinky toe bones|Absent/small pinkie toe bones|Absent/small little toe bones|Absent/underdeveloped pinky toe bones UMLS:C4023867 doelkens 2009-07-16T11:52:18Z human_phenotype owl:Class HP:0033527 biolink:NamedThing Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin). tmpxe7fu0cj_hp_relaxed.owl Decreased plasma testosterone-to-androstenedione ratio 2021-01-15 12:34:18+00:00 Androstenedione is made in the adrenal glands as well as the testes and ovaries. In females, androstenedione is converted to provide around half of all testosterone and almost all estrone. In males, androstenedione is produced by the testes and rapidly converted to testosterone. A low testosterone:androstenedione ratio following hCG stimulation may be a useful method of diagnosing 17beta-hydroxysteroid dehydrogenase-3 (17 betaHSD3) deficiency. peter owl:Class UBERON:0004228 biolink:NamedThing urinary bladder smooth muscle A portion of smooth muscle tissue that is part of a urinary bladder [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bladder smooth muscle tissue|smooth muscle tissue of urinary bladder|bladder smooth muscle|involuntary muscle of bladder|smooth muscle of bladder|urinary bladder muscle|urinary bladder smooth muscle tissue|bladder non-striated muscle|non-striated muscle of bladder|smooth muscle layer of bladder|urinary bladder involuntary muscle|involuntary muscle of urinary bladder|urinary bladder non-striated muscle|smooth muscle tissue of bladder|bladder involuntary muscle|non-striated muscle of urinary bladder|smooth muscle of urinary bladder MA:0001697|CALOHA:TS-1087|BTO:0001849|EMAPA:37791 uberon owl:Class HP:0011325 biolink:NamedThing Pansynostosis Craniosynostosis of all calvarial sutures. tmpxe7fu0cj_hp_relaxed.owl Sysnostosis of all cranial sutures UMLS:C4021827 peter 2012-02-25T01:27:38Z human_phenotype owl:Class HP:0011324 biolink:NamedThing Multiple suture craniosynostosis Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified. tmpxe7fu0cj_hp_relaxed.owl Multisutural craniosynostosis UMLS:C4021161 If possible, it is preferable to annotate the precise pattern of involvement of the cranial sutures involved in craniosynostosis. This term may be chosen if more information is not available. peter 2012-02-25T01:16:13Z owl:Class UBERON:0011825 biolink:NamedThing loose connective tissue Irregular connective tissue, the intercellular matrix of which contains a sparse irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, neuroglial tissue, mucoid tissue. tmpxe7fu0cj_hp_relaxed.owl textus connectivus laxus|textus connectivus collagenosus laxus Wikipedia:Loose_connective_tissue|FMA:19783|NCIT:C33007|UMLS:C1253917 uberon owl:Class UBERON:0011821 biolink:NamedThing irregular connective tissue Connective tissue, which consists of a population of connective tissue cells, the intercellular matrix of which contains an irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, mucoid tissue, connective tissue of peritoneum, connective tissue of fibrous pericardium. tmpxe7fu0cj_hp_relaxed.owl FMA:20107 uberon owl:Class HP:0012897 biolink:NamedThing Abnormal upper-limb motor evoked potentials An anomaly identified by motor evoked potentials (MEPs) in the arm. tmpxe7fu0cj_hp_relaxed.owl Abnormal motor evoked potentials in the upper limb UMLS:C4021059 peter 2014-06-23T11:08:22Z human_phenotype owl:Class HP:0012896 biolink:NamedThing Abnormal motor evoked potentials An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022687 peter 2014-06-23T11:04:24Z human_phenotype owl:Class CL:1000490 biolink:NamedThing mesothelial cell of peritoneum A mesothelial cell that is part of the peritoneum. tmpxe7fu0cj_hp_relaxed.owl peritoneal mesothelial cell FMA:86736 cell owl:Class HP:0002390 biolink:NamedThing Spinal arteriovenous malformation tmpxe7fu0cj_hp_relaxed.owl UMLS:C0348023|SNOMEDCT_US:261482004 human_phenotype owl:Class HP:0100268 biolink:NamedThing Upper lip pit Depression located on the vermilion of the upper lip, usually paramedian. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022176 A lip pit may be connected by a fistula to mucous minor salivary glands in the upper lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). doelkens 2010-07-20T04:06:52Z human_phenotype owl:Class HP:0100269 biolink:NamedThing Paramedian lip pit Depression located paramedially on the vermilion of a lip. tmpxe7fu0cj_hp_relaxed.owl Paramedian labial pits UMLS:C4022175 A lip pit may be connected by a fistula to mucous minor salivary glands in the upper or lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). doelkens 2010-07-20T04:13:41Z human_phenotype owl:Class HP:0040033 biolink:NamedThing Aplasia/Hypoplasia of the fifth metatarsal bone tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped 5th long bone of foot|Absent/small 5th long bone of foot UMLS:C4022480 HPO:skoehler owl:Class PATO:0001397 biolink:NamedThing cellular potency A cellular quality that arises by virtue of whether the bearer's disposition to differentiate into one or more mature cell types. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0030176 biolink:NamedThing Asymmetric peripheral demyelination Loss of myelin from peripheral nerves in a pattern that differs between right and left. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022598 This feature may be observed in hereditary neuropathy with liability to pressure palsies, but also in acquired inflammatory neuropathies. owl:Class PATO:0001505 biolink:NamedThing separated from A structural quality inhering in a bearer by virtue of the bearer's not being in contact with another entity, or of no longer being connected or joined with another entity. tmpxe7fu0cj_hp_relaxed.owl splitted from|discontiguous|divided_from quality owl:Class HP:0007263 biolink:NamedThing Spinocerebellar atrophy Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord. tmpxe7fu0cj_hp_relaxed.owl MSH:D020754|SNOMEDCT_US:129609000|UMLS:C0087012 owl:Class HP:0001272 biolink:NamedThing Cerebellar atrophy Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. tmpxe7fu0cj_hp_relaxed.owl Atrophic cerebellum|Infratentorial atrophy|Degeneration of cerebellum SNOMEDCT_US:95646004|UMLS:C4020873|UMLS:C0262404|UMLS:C0740279 Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss. HP:0007072|HP:0006839|HP:0002364|HP:0007203 owl:Class UBERON:0036290 biolink:NamedThing myocardium of anterior wall of left ventricle tmpxe7fu0cj_hp_relaxed.owl FMA:87177 uberon owl:Class HP:0100152 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the middle bone of the 3rd toe UMLS:C4022269 doelkens 2010-06-24T10:24:13Z human_phenotype owl:Class HP:0005321 biolink:NamedThing Mandibulofacial dysostosis A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. tmpxe7fu0cj_hp_relaxed.owl Treacher collins syndrome UMLS:C0242387|SNOMEDCT_US:82203000|MSH:D008342 human_phenotype owl:Class CHEBI:35753 biolink:NamedThing tricarboxylic acid anion Any anion of a tricarboxylic acid formed by deprotonation of at least one carboxy group. tmpxe7fu0cj_hp_relaxed.owl tricarboxylic acid anion|tricarboxylic acid anions chebi_ontology owl:Class GO:0002674 biolink:NamedThing negative regulation of acute inflammatory response Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response. tmpxe7fu0cj_hp_relaxed.owl down regulation of acute inflammatory response|down-regulation of acute inflammatory response|downregulation of acute inflammatory response|inhibition of acute inflammatory response biological_process owl:Class HP:0011690 biolink:NamedThing Permanent junctional reciprocating tachycardia An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:233904005|UMLS:C0340483 peter 2012-04-10T10:36:06Z human_phenotype owl:Class HP:0012599 biolink:NamedThing Abnormal urine phosphate concentration An abnormal phosphate concentration in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022828 peter 2014-01-16T06:14:49Z owl:Class GO:0045618 biolink:NamedThing positive regulation of keratinocyte differentiation Any process that activates or increases the frequency, rate or extent of keratinocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl activation of keratinocyte differentiation|upregulation of keratinocyte differentiation|up regulation of keratinocyte differentiation|stimulation of keratinocyte differentiation|up-regulation of keratinocyte differentiation biological_process owl:Class HP:0010424 biolink:NamedThing Complete duplication of the distal phalanx of the 2nd toe Complete duplication of the distal phalanx of second toe. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the outermost bone of the 2nd toe UMLS:C4023835 doelkens 2009-07-16T12:57:27Z human_phenotype owl:Class UBERON:0012299 biolink:NamedThing mucosa of urethra A mucosa that is part of a urethra. tmpxe7fu0cj_hp_relaxed.owl urethral mucosa|mucous membrane of urethra|tunica mucosa urethrae EMAPA:37912|FMA:76904 uberon owl:Class UBERON:0004041 biolink:NamedThing spleen primary B follicle The nodules of small undifferentiated B lymphocytes and follicular dendritic cells located in the spleen white pulp. tmpxe7fu0cj_hp_relaxed.owl primary spleen B cell follicle FMA:15843|EMAPA:37960 uberon owl:Class FMA:15843 is classified as primary follicle so it belongs here HP:0003067 biolink:NamedThing Madelung deformity An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. tmpxe7fu0cj_hp_relaxed.owl Madelung wrist deformity MSH:C562398|SNOMEDCT_US:4530000|UMLS:C0152441 human_phenotype owl:Class HP:0008628 biolink:NamedThing Abnormality of the stapes An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear. tmpxe7fu0cj_hp_relaxed.owl Stapedial abnormalities UMLS:C4021532 human_phenotype owl:Class UBERON:5006050 biolink:NamedThing digit 3 plus metapodial segment A subdivision of the autopod consisting of digit 3 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl digit 3 ray|digit III plus metapodial segment|digit 3 digitopodial subdivision|digit 3|digit 3 ( phalanges plus metapodial) plus soft tissue this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class CHEBI:64583 biolink:NamedThing sphingomyelin tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:36700 biolink:NamedThing phosphocholines tmpxe7fu0cj_hp_relaxed.owl owl:Class MPATH:602 biolink:NamedThing hyperplastic tissue An organ or a tissue with an abnormal increase in the number of cells as a consequence of cell proliferation. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class CL:0008030 biolink:NamedThing excitatory neuron tmpxe7fu0cj_hp_relaxed.owl dos 2017-07-12T11:11:06Z owl:Class NCBITaxon:2301116 biolink:NamedThing Rhabditina tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6236 biolink:NamedThing Rhabditida tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 NCBITaxon:33251 ncbi_taxonomy owl:Class HP:0012392 biolink:NamedThing Jaw hyporeflexia Reduced intensity of muscle tendon reflexes in jaw. tmpxe7fu0cj_hp_relaxed.owl Mandibular hyporeflexia UMLS:C4022918 The jaw jerk is elicited by the examiner placing the tip of the index finger on a relaxed jaw, one that is about one-third open. One then taps briskly on the index finger with the other hand and notes the speed as the mandible is flexed. peter 2013-11-07T07:43:29Z owl:Class HP:0033115 biolink:NamedThing Elevated circulating tenascin-C level Abnormally increased concentration of tenascin-C in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-09-03 11:21:59+00:00 Tenascin-C is a pro-inflammatory glycoprotein. The expression of tenascin-C in adults is limited to the site of tissue injury, usually temporary, and the expression level of tenascin-C returns to normal after tissue repair is completed. In contrast, the sustained high expression of tenascin-C is common in inflammation, tissue remodeling, and autoimmune diseases. Elevated serum tenascin-C may be associated with severity and poor prognosis in septic patients. peter owl:Class HP:0100188 biolink:NamedThing Small epiphysis of the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Small end part of middle long bone of 4th toe UMLS:C4022233 doelkens 2010-06-24T04:54:13Z human_phenotype owl:Class HP:0008993 biolink:NamedThing Increased intraabdominal fat An abnormal increase in the amount of intraabdominal fat tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1835390 human_phenotype owl:Class HP:0009126 biolink:NamedThing Increased adipose tissue An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell). tmpxe7fu0cj_hp_relaxed.owl Increased adipose tissue|Increased fat tissue UMLS:C4024583 peter 2008-04-05T11:43:00Z human_phenotype owl:Class GO:0045981 biolink:NamedThing positive regulation of nucleotide metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. tmpxe7fu0cj_hp_relaxed.owl up regulation of nucleotide metabolic process|upregulation of nucleotide metabolic process|stimulation of nucleotide metabolic process|up-regulation of nucleotide metabolic process|positive regulation of nucleotide metabolism|activation of nucleotide metabolic process biological_process owl:Class CHEBI:3098 biolink:NamedThing bile acid Any member of a group of hydroxy-5beta-cholanic acids occuring in bile, where they are present as the sodium salts of their amides with glycine or taurine. In mammals bile acids almost invariably have 5beta-configuration. tmpxe7fu0cj_hp_relaxed.owl 5beta-bile acids|Gallensaeure|Gallensaeuren|5beta-bile acid|Bile salt|Bile acid|bile acids KEGG:C01558 chebi_ontology owl:Class HP:0003910 biolink:NamedThing Enlarged humeral metaphyses tmpxe7fu0cj_hp_relaxed.owl Enlarged wide portion of long bone of upper arm|Expanded humeral metaphyses UMLS:C4021707 human_phenotype owl:Class CHEBI:35507 biolink:NamedThing natural product fundamental parent tmpxe7fu0cj_hp_relaxed.owl natural product fundamental parents chebi_ontology owl:Class CHEBI:33892 biolink:NamedThing iron coordination entity tmpxe7fu0cj_hp_relaxed.owl iron coordination entity|iron coordination entities|iron coordination compounds chebi_ontology owl:Class CHEBI:33861 biolink:NamedThing transition element coordination entity tmpxe7fu0cj_hp_relaxed.owl transition element coordination entities|transition metal coordination entities|transition metal coordination compounds chebi_ontology owl:Class UBERON:0006338 biolink:NamedThing lateral ventricle choroid plexus stroma A choroid plexus stroma that is part of a lateral ventricle. tmpxe7fu0cj_hp_relaxed.owl MA:0000963 definitions should be fixed to use generic stroma class uberon owl:Class HP:0000289 biolink:NamedThing Broad philtrum Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. tmpxe7fu0cj_hp_relaxed.owl Wide philtrum|Increased horizontal dimension of philtrum|Increased breadth of philtrum|Increased transverse dimension of philtrum|Increased width of philtrum UMLS:C1854111 The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum. human_phenotype owl:Class HP:0006470 biolink:NamedThing Thin long bone diaphyses Decreased width of the diaphysis of long bones. tmpxe7fu0cj_hp_relaxed.owl Thin shaft of long bone|Thin diaphyses of long bones UMLS:C1859449 human_phenotype owl:Class PATO:0001579 biolink:NamedThing contractility A physical quality that is the ability to contract or shrink. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0410331 biolink:NamedThing Nut food product allergy Hypersensitivity in form of an adverse immune reaction against nut food products. tmpxe7fu0cj_hp_relaxed.owl Allergy to nut food products|IgE-mediated nut food product allergy|Nut food product allergy|Immunoglobulin E-mediated nut food product allergy|Nut allergy owl:Class HP:0410332 biolink:NamedThing Plant based food allergy Hypersensitivity in form of an adverse immune reaction against plant based food allergens. tmpxe7fu0cj_hp_relaxed.owl IgE-mediated plant based food allergen allergy|Allergy to plant based food allergens|Plant based food allergy|Immunoglobulin E-mediated plant based food allergen allergy owl:Class HP:0001701 biolink:NamedThing Pericarditis Inflammation of the sac-like covering around the heart (pericardium). tmpxe7fu0cj_hp_relaxed.owl Swelling or irritation of membrane around heart SNOMEDCT_US:3238004|MSH:D010493|UMLS:C0031046 owl:Class HP:0010583 biolink:NamedThing Ivory epiphyses Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in end part of bone|Epiphyseal sclerosis UMLS:C1856911 sandra1 2009-10-22T02:53:19Z human_phenotype owl:Class UBERON:0001495 biolink:NamedThing pectoral muscle Muscles of the upper chest. The term may refer to one of two muscles, the pectoralis major and pectoralis minor. The former is a thick muscle in the anterior portion of the chest. Its action involves flexion, medial rotation, and adduction of the humerus. The latter is a thin muscle located beneath the pectoralis major. Its action involves lowering the scapula and raising the ribs. tmpxe7fu0cj_hp_relaxed.owl pectoralis muscle|pectoralis|pectoralis group muscle|muscle of pectoral part of chest|breast muscle|muscle of pectoral region|M. pectoralis BTO:0000023|NCIT:C33286|EMAPA:35670|AAO:0010727|UMLS:C0030747|MA:0002423|MESH:D010369|FMA:37349|CALOHA:TS-0751|GAID:153 This currently groups the major and minor muscles (which have different attachment sites) as well as the AAO structure: Muscle which is comprised of three heads. The anterior head is the portio epicoracoidea that originates on the epicoracoid cartilage and inserts on the deltoid crest of the humerus. The next more posterior head, portio sternalis, originates on the sternum and inserts in the groove next to the deltoid crest of the humerus. The most posterior head, portio abdominalis, arises from the M. rectus abdominis and inserts on the deltoid crest of the humerus Pectoralis:major.png uberon owl:Class Muscle which is comprised of three heads. The anterior head is the portio epicoracoidea that originates on the epicoracoid cartilage and inserts on the deltoid crest of the humerus. The next more posterior head, portio sternalis, originates on the sternum and inserts in the groove next to the deltoid crest of the humerus. The most posterior head, portio abdominalis, arises from the M. rectus abdominis and inserts on the deltoid crest of the humerus.[AAO] CHEBI:36341 biolink:NamedThing boson Particle of integer spin quantum number following Bose-Einstein statistics. Bosons are named after Satyendra Nath Bose. tmpxe7fu0cj_hp_relaxed.owl boson|bosons chebi_ontology owl:Class HP:0003805 biolink:NamedThing Rimmed vacuoles Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. tmpxe7fu0cj_hp_relaxed.owl 'rimmed vacuoles' on biopsy|'rimmed' vacuoles on biopsy UMLS:C1853932 Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers. HP:0009029 human_phenotype owl:Class HP:0012287 biolink:NamedThing Hypothalamic luteinizing hormone-releasing hormone deficiency Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022967 peter 2013-04-09T07:54:46Z human_phenotype owl:Class GO:1903054 biolink:NamedThing negative regulation of extracellular matrix organization Any process that stops, prevents or reduces the frequency, rate or extent of extracellular matrix organization. tmpxe7fu0cj_hp_relaxed.owl negative regulation of extracellular matrix organisation|down regulation of extracellular matrix organization|inhibition of extracellular matrix organisation|downregulation of extracellular matrix organisation|negative regulation of extracellular matrix organization and biogenesis|inhibition of extracellular matrix organization|down regulation of extracellular matrix organization and biogenesis|down regulation of extracellular matrix organisation|down-regulation of extracellular matrix organisation|down-regulation of extracellular matrix organization and biogenesis|downregulation of extracellular matrix organization|downregulation of extracellular matrix organization and biogenesis|inhibition of extracellular matrix organization and biogenesis|down-regulation of extracellular matrix organization rl 2014-05-23T17:15:47Z biological_process owl:Class HP:0032889 biolink:NamedThing Focal aware sensory seizure with gustatory features A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes. tmpxe7fu0cj_hp_relaxed.owl These seizures involve the parietal operculum and the insula. peter owl:Class GO:0034111 biolink:NamedThing negative regulation of homotypic cell-cell adhesion Any process that stops, prevents, or reduces the frequency, rate, or extent of homotypic cell-cell adhesion. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010187 biolink:NamedThing Bullet-shaped distal toe phalanx An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped distal phalanges of the toes|Bullet-shaped outermost bone of the toe UMLS:C4021325 doelkens 2009-05-29T01:52:41Z human_phenotype owl:Class HP:0034057 biolink:NamedThing Fetal anomaly Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. tmpxe7fu0cj_hp_relaxed.owl 2021-11-27 19:01:00+00:00 peter owl:Class HP:0032726 biolink:NamedThing Focal impaired awareness hyperkinetic seizure A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class CHEBI:17113 biolink:NamedThing erythritol The meso-diastereomer of butane-1,2,3,4-tetrol. tmpxe7fu0cj_hp_relaxed.owl L-erythritol|erythritol|erythro-tetritol|Erythrite|Erythrol|Phycite|mesoerythritol|MESO-ERYTHRITOL|Erythritol|Erythrit|Phycitol|(2R,3S)-butane-1,2,3,4-tetrol|meso-erythritol 0 C4H10O4 InChI=1S/C4H10O4/c5-1-3(7)4(8)2-6/h3-8H,1-2H2/t3-,4+ UNXHWFMMPAWVPI-ZXZARUISSA-N 122.11980 122.05791 OC[C@H](O)[C@H](O)CO PMID:25108762|PMID:22770225|KNApSAcK:C00001161|DrugBank:DB04481|PMID:16901854|Gmelin:82499|PMID:23574577|PDBeChem:MRY|CAS:149-32-6|HMDB:HMDB0002994|PMID:19632091|PMID:24643482|PMID:9862657|PMID:23421980|PMID:23890177|PMID:17979222|KEGG:C00503|Wikipedia:Erythritol|PMID:17336832|Beilstein:1719753|MetaCyc:ERYTHRITOL|PMID:18369603|Reaxys:1735878|PMID:163226|PMID:12639570 CHEBI:44263|CHEBI:372804|CHEBI:14215|CHEBI:23946|CHEBI:4840 chebi_ontology owl:Class HP:0008909 biolink:NamedThing Lethal short-limbed short stature tmpxe7fu0cj_hp_relaxed.owl Lethal short-limbed dwarfism|Lethal micromelic dwarfism UMLS:C2674171 HP:0003506 human_phenotype owl:Class HP:0011880 biolink:NamedThing Acute disseminated intravascular coagulation An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023149 peter 2012-06-02T04:49:50Z human_phenotype owl:Class HP:0005521 biolink:NamedThing Disseminated intravascular coagulation Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:67406007|MSH:D004211|UMLS:C0012739 DIC is a complex syndrome in which there is pathological generation of thrombin and diffuse intravascular clot formation. DIC may occur as acute decompensated or chronic compensated form. In acute decompensated DIC, there is a sudden massive exposure of tissue factor over a brief time period; Intravascular coagulation can also compromise the blood supply to organs and, in conjunction with hemodynamic and metabolic derangements, may contribute to the failure of multiple organs. At the same time, the use and subsequent depletion of platelets and coagulation proteins resulting from the ongoing coagulation may induce severe bleeding. Chronic DIC, also known as compensated DIC, results from a persistent weak or intermittent activating stimulus. Under such conditions, destruction and production of coagulation factors and platelets are balanced. human_phenotype owl:Class HP:0007326 biolink:NamedThing Progressive choreoathetosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C1860216 human_phenotype owl:Class HP:0001266 biolink:NamedThing Choreoathetosis Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). tmpxe7fu0cj_hp_relaxed.owl Choreoathetoid movements UMLS:C0085583|UMLS:C0234967|SNOMEDCT_US:43105007 HP:0002469|HP:0007028|HP:0006811|HP:0007337 human_phenotype owl:Class MAXO:0001000 biolink:NamedThing functional magnetic resonance imaging procedure The principle of functional MRI imaging is to take a series of images of an organ in quick succession and to statistically analyze the images for differences among them. Most commonly used in studies of brain function. tmpxe7fu0cj_hp_relaxed.owl Functional MRI|fMRI 2019-04-26 20:04:29+00:00 NCIT:C17958 owl:Class HP:0001118 biolink:NamedThing Juvenile cataract A type of cataract that is not apparent at birth but that arises in childhood or adolescence. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0302254|SNOMEDCT_US:399336001 Juvenile cataracts are generally either hereditary (especially if bilateral) or due to trauma (especially if unilateral). human_phenotype owl:Class GO:0033014 biolink:NamedThing tetrapyrrole biosynthetic process The chemical reactions and pathways leading to the formation of tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. tmpxe7fu0cj_hp_relaxed.owl tetrapyrrole synthesis|tetrapyrrole biosynthesis|tetrapyrrole formation|tetrapyrrole anabolism biological_process owl:Class HP:0011377 biolink:NamedThing Aplasia of the vestibule Complete absence of the vestibule of the inner ear. tmpxe7fu0cj_hp_relaxed.owl Absent vestibule UMLS:C4023389 peter 2012-03-07T08:37:27Z human_phenotype owl:Class UBERON:0008788 biolink:NamedThing posterior cranial fossa The infratentorial compartment that contains the CEREBELLUM and BRAIN STEM. It is formed by the posterior third of the superior surface of the body of the sphenoid (SPHENOID BONE), by the occipital, the petrous, and mastoid portions of the TEMPORAL BONE, and the posterior inferior angle of the PARIETAL BONE. tmpxe7fu0cj_hp_relaxed.owl fossa cranii posterior|posterior fossa NCIT:C33361|UMLS:C0010265|CALOHA:TS-2354|FMA:54368|MESH:D003388|GAID:85 Posterior:fossa.png uberon owl:Class UBERON:0008789 biolink:NamedThing cranial fossa Any of the three large depressions in the posterior, middle, and anterior aspects of the floor of the cranial cavity. tmpxe7fu0cj_hp_relaxed.owl FMA:321144 todo - review the relationships for this and its subclasses; the relation should be bounded rather than part of, and contains should be used for the brain parts contained by the fossae uberon owl:Class HP:0020143 biolink:NamedThing Tracheal duplication cyst A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium. tmpxe7fu0cj_hp_relaxed.owl Tracheal duplication cyst is a rare congenital malformation presenting in childhood with stridor or dysphagia from a mass effect on the trachea or esophagus. The features of the tracheal duplication cyst are similar to those of bronchogenic duplication cyst and laryngeal duplication cyst, but with histopathological features of the trachea. The trachea is known to originate from the respiratory diverticulum, a ventral outpouching of foregut lumen. The postulated embryological basis of a tracheal duplication cyst may be similar to that of the anomalous bronchi and is a result of abnormal budding of the bronchial tree during the fourth to sixth weeks of embryogenesis. robinp 2019-07-05 19:01:46+00:00 owl:Class PATO:0001993 biolink:NamedThing multicellular A cellularity quality inhering in a bearer by virtue of the bearer's consisting of more than one cell. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0001992 biolink:NamedThing cellularity An organismal quality inhering in a bearer by virtue of the bearer's consisting cells. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:1901203 biolink:NamedThing positive regulation of extracellular matrix assembly Any process that activates or increases the frequency, rate or extent of extracellular matrix assembly. tmpxe7fu0cj_hp_relaxed.owl activation of extracellular matrix assembly|up regulation of extracellular matrix assembly|up-regulation of extracellular matrix assembly|upregulation of extracellular matrix assembly rl 2012-07-27T04:04:32Z biological_process owl:Class HP:0031946 biolink:NamedThing Elevated urinary N,N-dimethylglycine level An increased concentration of N,N-dimethylglycine in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-07-06 11:59:21+00:00 peter owl:Class HP:0004885 biolink:NamedThing Episodic respiratory distress tmpxe7fu0cj_hp_relaxed.owl respiratory distress, episodic|Episodic difficulty breathing UMLS:C1844945 human_phenotype owl:Class HP:0002098 biolink:NamedThing Respiratory distress Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. tmpxe7fu0cj_hp_relaxed.owl Labored breathing|Breathing difficulties|Respiratory difficulties SNOMEDCT_US:271825005|MSH:D004417|SNOMEDCT_US:230145002|SNOMEDCT_US:267036007|UMLS:C0476273|UMLS:C0013404 HP:0002880 owl:Class HP:0007881 biolink:NamedThing Central corneal dystrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024778 human_phenotype owl:Class HP:0011493 biolink:NamedThing Central opacification of the cornea Reduced transparency of the central portion of the corneal stroma. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023327 peter 2012-04-02T10:36:22Z human_phenotype owl:Class HP:0001470 biolink:NamedThing Sex-limited autosomal dominant tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025767 human_phenotype owl:Class GO:0032970 biolink:NamedThing regulation of actin filament-based process Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the actin cytoskeleton. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0032508 biolink:NamedThing Polyembolokoilamania Habitual insertion of foreign bodies into bodily orifices. tmpxe7fu0cj_hp_relaxed.owl 2019-05-23 23:11:22+00:00 peter owl:Class HP:0033582 biolink:NamedThing Pulmonary interstitial lymphocyte infiltration Abnormal accumulation of lymphocytes in the interstitium of the lung. tmpxe7fu0cj_hp_relaxed.owl 2021-01-27 20:32:20+00:00 peter owl:Class UBERON:0016446 biolink:NamedThing hair of head A strand of hair that is part of a head. tmpxe7fu0cj_hp_relaxed.owl hair of scalp|head hair FMA:54241 uberon owl:Class GO:0048284 biolink:NamedThing organelle fusion The creation of a single organelle from two or more organelles. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0003976 biolink:NamedThing Constricted radius tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025468 human_phenotype owl:Class HP:0007728 biolink:NamedThing Congenital miosis Abnormal (non-physiological) constriction of the pupil of congenital onset. tmpxe7fu0cj_hp_relaxed.owl MSH:C537550|SNOMEDCT_US:400962005|UMLS:C1303009 human_phenotype owl:Class HP:0010640 biolink:NamedThing Abnormality of the nasal cavity Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023763 doelkens 2009-12-17T04:56:17Z human_phenotype owl:Class HP:0003465 biolink:NamedThing Elevated 8(9)-cholestenol tmpxe7fu0cj_hp_relaxed.owl UMLS:C1840014 human_phenotype owl:Class HP:0012800 biolink:NamedThing Accessory cranial suture A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. tmpxe7fu0cj_hp_relaxed.owl Extra cranial suture|Supernumary cranial suture|Extra fontanelle|Supernumary fontanelle|Accessory fontanelle UMLS:C4021067|UMLS:C4022927 The parietal and occipital bones in particular are common regions for accessory sutures because of their multiple ossification centers. Accessory sutures can be explained on the basis of incomplete union of the two separate ossification centers. Accessory sutures usually will show a zigzag pattern with interdigitations and sclerotic borders similar to major calvarial sutures. hecht 2014-05-25T10:54:52Z human_phenotype owl:Class HP:0032441 biolink:NamedThing Blood group AB ABO phenotype AB, corresponding to the genotype AB. tmpxe7fu0cj_hp_relaxed.owl 2019-03-03 16:37:30+00:00 peter owl:Class HP:0020047 biolink:NamedThing Abnormal myeloid cell morphology Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. tmpxe7fu0cj_hp_relaxed.owl 2017-12-22 14:32:10+00:00 robinp owl:Class HP:0008640 biolink:NamedThing Congenital macroorchidism tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024650 human_phenotype owl:Class HP:0000053 biolink:NamedThing Macroorchidism The presence of abnormally large testes. tmpxe7fu0cj_hp_relaxed.owl Large testicles|Large testis UMLS:C1263023 human_phenotype owl:Class CHEBI:33238 biolink:NamedThing monoatomic entity A monoatomic entity is a molecular entity consisting of a single atom. tmpxe7fu0cj_hp_relaxed.owl monoatomic entities|atomic entity chebi_ontology owl:Class GO:2000860 biolink:NamedThing positive regulation of aldosterone secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0003979 biolink:NamedThing Lytic defects of the radius tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021841 human_phenotype owl:Class HP:0003963 biolink:NamedThing Lytic defects of the forearm bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025476 human_phenotype owl:Class HP:0020129 biolink:NamedThing Abnormal urine protein level Any deviation of the concentration of one or more proteins in the urine. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-05 16:29:22+00:00 owl:Class HP:0030002 biolink:NamedThing Nocturnal lagophthalmos The inability to close the eyelids during sleep. tmpxe7fu0cj_hp_relaxed.owl Eyelids stay open at night|Inability to close the eyelids at night SNOMEDCT_US:417740005|UMLS:C1563118 Lagophthalmos is associated with exposure keratopathy, poor sleep, and persistent exposure-related symptoms. There are a variety of causes of lagophthalmos, grouped as proptosis/eye exposure etiologies and palpebral insufficiency etiologies. owl:Class HP:0030001 biolink:NamedThing Lagopthalmos A condition in which the eyelids do not close to cover the eye completely. tmpxe7fu0cj_hp_relaxed.owl Eyelids stay open|Inability to close the eyelids UMLS:C4022680 Some common causes of lagophthalmos are Bell's palsy and other types of facial paralysis, stroke, infection, and trauma. The inability to blink and effectively close the eyes leads to corneal exposure and excessive evaporation of the tear film. The main purpose when treating lagophthalmos is to prevent exposure keratitis and reestablish eyelid function. human_phenotype owl:Class HP:0003343 biolink:NamedThing Reduced glutathione synthetase level Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline. tmpxe7fu0cj_hp_relaxed.owl Glutathione synthetase deficiency SNOMEDCT_US:39112005|MSH:C536835|UMLS:C0398746|SNOMEDCT_US:234589002|SNOMEDCT_US:124706000 human_phenotype owl:Class HP:0012861 biolink:NamedThing Ovotestis A gonad that contains both ovarian follicles and testicular tubular elements. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0266361|MSH:D050090|SNOMEDCT_US:18978002 An ovotestis is usually observed to have connective tissue separating the ovarian components from the testicular components, but ovarian and testicular elements may be intermixed. hecht 2014-06-09T09:48:37Z human_phenotype owl:Class GO:1905558 biolink:NamedThing negative regulation of mitotic nuclear envelope disassembly Any process that stops, prevents or reduces the frequency, rate or extent of mitotic nuclear envelope disassembly. tmpxe7fu0cj_hp_relaxed.owl down-regulation of mitotic nuclear envelope disassembly|downregulation of mitotic nuclear envelope breakdown|inhibition of mitotic nuclear envelope catabolism|inhibition of mitotic nuclear envelope disassembly|down regulation of mitotic nuclear envelope breakdown|down regulation of mitotic nuclear envelope degradation|down regulation of mitotic nuclear envelope disassembly|downregulation of mitotic nuclear envelope disassembly|negative regulation of mitotic nuclear envelope catabolism|negative regulation of mitotic nuclear envelope breakdown|down-regulation of mitotic nuclear envelope breakdown|inhibition of mitotic nuclear envelope breakdown|inhibition of mitotic nuclear envelope degradation|down-regulation of mitotic nuclear envelope degradation|negative regulation of mitotic nuclear envelope degradation|downregulation of mitotic nuclear envelope degradation|downregulation of mitotic nuclear envelope catabolism|down-regulation of mitotic nuclear envelope catabolism|down regulation of mitotic nuclear envelope catabolism hbye 2016-10-14T13:15:08Z biological_process owl:Class PR:P35918 biolink:NamedThing vascular endothelial growth factor receptor 2 (mouse) A vascular endothelial growth factor receptor 2 that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl kinase NYK (mouse)|protein-tyrosine kinase receptor flk-1 (mouse)|FLK-1 (mouse)|Flk1|Kdr|mKDR|Flk-1|CD309 (mouse)|VEGFR-2 (mouse)|fetal liver kinase 1 (mouse) UniProtKB:P35918 Category=organism-gene. protein owl:Class UBERON:0015485 biolink:NamedThing choledocho-duodenal junction Hat part of the duodenal wall traversed by the ductus choledochus, ductus pancreaticus, and ampulla. tmpxe7fu0cj_hp_relaxed.owl choledochoduodenal junction EMAPA:37478|MA:0003108 uberon owl:Class CHEBI:50584 biolink:NamedThing alkyl alcohol An aliphatic alcohol in which the aliphatic alkane chain is substituted by a hydroxy group at unspecified position. tmpxe7fu0cj_hp_relaxed.owl hydroxyalkanes|alkyl alcohols|hydroxyalkane CHEBI:50581|CHEBI:22937 chebi_ontology owl:Class CHEBI:2571 biolink:NamedThing aliphatic alcohol An alcohol derived from an aliphatic compound. tmpxe7fu0cj_hp_relaxed.owl an aliphatic alcohol|aliphatic alcohols|Aliphatic alcohol 0 HOR 17.007 17.00274 O* KEGG:C02525 chebi_ontology owl:Class GO:0032379 biolink:NamedThing positive regulation of intracellular lipid transport Any process that activates or increases the frequency, rate or extent of the directed movement of lipids within cells. tmpxe7fu0cj_hp_relaxed.owl activation of intracellular lipid transport|upregulation of intracellular lipid transport|stimulation of intracellular lipid transport|up regulation of intracellular lipid transport|up-regulation of intracellular lipid transport biological_process owl:Class HP:0030585 biolink:NamedThing Red desaturation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073058 owl:Class HP:0030584 biolink:NamedThing Color vision test abnormality tmpxe7fu0cj_hp_relaxed.owl Colour vision test abnormality UMLS:C4073057 owl:Class CHEBI:30879 biolink:NamedThing alcohol A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. tmpxe7fu0cj_hp_relaxed.owl Alcohol|an alcohol|alcohols 0 HOR 17.007 17.00274 O[*] KEGG:C00069 CHEBI:22288|CHEBI:2553|CHEBI:13804 chebi_ontology owl:Class HP:0009786 biolink:NamedThing Aplasia/Hypoplasia of the musculature of the thigh Absence or underdevelopment involving the musculature of the thigh. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped thigh muscles|Absent/small thigh muscles UMLS:C4024207 peter 2009-02-03T05:16:42Z human_phenotype owl:Class HP:0009128 biolink:NamedThing Aplasia/Hypoplasia involving the musculature of the extremities tmpxe7fu0cj_hp_relaxed.owl Absent/small muscles of extremities|Absent/underdeveloped muscles of extremities UMLS:C4024581 peter 2008-04-07T02:01:00Z human_phenotype owl:Class HP:0009346 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 3rd finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Absent end part of innermost long bone of the middle finger UMLS:C4024422 doelkens 2009-01-12T11:19:03Z human_phenotype owl:Class UBERON:0003426 biolink:NamedThing dermis adipose tissue An adipose tissue that is part of a dermis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl fatty tissue of dermis|dermis fatty tissue|dermis fat tissue|adipose tissue of dermis|fat tissue of dermis MA:0000798 uberon owl:Class HP:0012122 biolink:NamedThing Anterior uveitis Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0701807|SNOMEDCT_US:4927003 hecht 2012-09-16T06:24:32Z human_phenotype owl:Class HP:0030390 biolink:NamedThing Reduced circulating leukotriene C4 concentration An abnormally decreased concentration of leukotriene C4 in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072927 Cysteinyl leukotrienes including LTC4 are potent lipid mediators derived from arachidonic acid in the 5 lipoxygenase pathway. owl:Class HP:0040206 biolink:NamedThing Abnormal circulating neopterin concentration Any deviation from the normal concentration of neopterin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073154 Neopterin can be found to have abnormal level in blood, CSF, or urine. HPO:skoehler owl:Class HP:0033684 biolink:NamedThing Abnormal muscle fiber-type distribution Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types tmpxe7fu0cj_hp_relaxed.owl 2021-03-07 22:37:42+00:00 peter owl:Class HP:0410263 biolink:NamedThing Brain imaging abnormality An anomaly of metabolism or structure of the brain identified by imaging. tmpxe7fu0cj_hp_relaxed.owl Abnormal brain imaging 2018-10-19 22:17:24+00:00 owl:Class HP:0005701 biolink:NamedThing Multiple enchondromatosis tmpxe7fu0cj_hp_relaxed.owl MSH:D004687|UMLS:C0014084|SNOMEDCT_US:268274005 human_phenotype owl:Class CHEBI:23014 biolink:NamedThing carbon oxide tmpxe7fu0cj_hp_relaxed.owl oxides of carbon|carbon oxides chebi_ontology owl:Class HP:0012742 biolink:NamedThing Thin fingernail Fingernail that appears thin when viewed on end. tmpxe7fu0cj_hp_relaxed.owl Thin fingernail UMLS:C4022750 No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified. peter 2014-03-23T04:47:40Z HP:0040037 human_phenotype owl:Class UBERON:8300004 biolink:NamedThing left hindlimb A hindlimb that is on the left side of a pelvic complex. tmpxe7fu0cj_hp_relaxed.owl FMA:7188 http://orcid.org/0000-0001-9897-3238 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern HP:0002289 biolink:NamedThing Alopecia universalis Loss of all hair on the entire body. tmpxe7fu0cj_hp_relaxed.owl Alopecia, complete|Universal alopecia SNOMEDCT_US:86166000|UMLS:C0263505|MSH:C537055 HP:0004550 human_phenotype owl:Class HP:0001596 biolink:NamedThing Alopecia A noncongenital process of hair loss, which may progress to partial or complete baldness. tmpxe7fu0cj_hp_relaxed.owl Hair loss SNOMEDCT_US:56317004|MSH:D000505|SNOMEDCT_US:278040002|UMLS:C0002170|MEDDRA:10001760 HP:0002238|HP:0008068 human_phenotype owl:Class HP:0041091 biolink:NamedThing Avulsion fractured epiphysis of femur A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma. tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:33661 biolink:NamedThing monocyclic compound tmpxe7fu0cj_hp_relaxed.owl monocyclic compounds chebi_ontology owl:Class CL:0000236 biolink:NamedThing B cell A lymphocyte of B lineage that is capable of B cell mediated immunity.|A lymphocyte of B lineage with the phenotype CD19-positive, CD20-positive, and capable of B cell mediated immunity. tmpxe7fu0cj_hp_relaxed.owl B-lymphocyte|B-cell|B lymphocyte CALOHA:TS-0068|VHOG:0001480|BTO:0000776|FMA:62869 cell owl:Class PR:000003918 biolink:NamedThing albumin A protein that is a translation product of the human ALB gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl UNQ696/PRO1341|PRO2675|serum albumin|PRO1708|PRO0903|Alb-1|GIG20|PRO2044|Alb1|GIG42|ALB|PRO2619 Category=gene. protein owl:Class HP:0030979 biolink:NamedThing Dilatation of large choroidal vessels Enlargement of the large blood vessels in the choroid. tmpxe7fu0cj_hp_relaxed.owl Dilated choroidal vessels 2017-05-10 23:59:11+00:00 Choroidal thickening can be a feature of central serous chorioretinopathy and results from focal or diffuse dilatation of large choroidal vessels, which are commonly localized within areas of increased choroidal vascular permeability on indocyanine green angiography. robinp owl:Class HP:0011404 biolink:NamedThing Lethal short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth. tmpxe7fu0cj_hp_relaxed.owl Lethal short-trunk dwarfism UMLS:C4021151 peter 2012-03-15T09:38:44Z human_phenotype owl:Class HP:0100413 biolink:NamedThing Complete duplication of the proximal phalanx of the 3rd toe Complete duplication of proximal phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the innermost 3rd toe bone UMLS:C4022105 human_phenotype owl:Class PATO:0001821 biolink:NamedThing imperforate A structural quality inhering in a bearer by virtue of the bearer's having no opening. tmpxe7fu0cj_hp_relaxed.owl unperforated quality owl:Class HP:0007710 biolink:NamedThing Peripheral vitreous opacities tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024811 human_phenotype owl:Class HP:0031078 biolink:NamedThing Impaired cortisol response to corticotropin releasing hormone stimulation test Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 23:29:58+00:00 peter owl:Class HP:0031077 biolink:NamedThing Abnormal response to corticotropin releasing hormone stimulation test An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals. tmpxe7fu0cj_hp_relaxed.owl Abnormal response to CRH stimulation test 2017-05-28 23:25:56+00:00 peter owl:Class UBERON:0034995 biolink:NamedThing jaw mesenchyme Mesenchyme that is part of a developing jaw [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:35454|EMAPA:32907 uberon owl:Class HP:0012054 biolink:NamedThing Choroidal melanoma Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented). tmpxe7fu0cj_hp_relaxed.owl UMLS:C0346388|SNOMEDCT_US:255021005|NCIT:C3224 peter 2012-08-01T01:59:00Z human_phenotype owl:Class GO:0050667 biolink:NamedThing homocysteine metabolic process The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. tmpxe7fu0cj_hp_relaxed.owl Hcy metabolic process|Hcy metabolism|homocysteine metabolism biological_process owl:Class HP:0033859 biolink:NamedThing Abnormal peritubular capillary morphology Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 17:32:26+00:00 peter owl:Class HP:0003321 biolink:NamedThing Biconcave flattened vertebrae tmpxe7fu0cj_hp_relaxed.owl UMLS:C1833753 HP:0005782 human_phenotype owl:Class HP:0410157 biolink:NamedThing Increased level of N-acetylneuraminic acid in fibroblasts An increase in the level of N-acetylneuraminic acid in cultured fibroblasts. tmpxe7fu0cj_hp_relaxed.owl Increased level of sialic acid in fibroblasts|Increased level of Neu5Ac in fibroblasts|Increased level of NANA in fibroblasts 2018-03-28 19:40:00+00:00 owl:Class HP:0031013 biolink:NamedThing Ankylosis A reduction of joint mobility resulting from changes involving the articular surfaces. tmpxe7fu0cj_hp_relaxed.owl 2017-05-18 02:58:48+00:00 Note that contracture refers to a reduction of joint mobility due to permanent shortening of the soft parts around a joint, muscles, tendons, ligaments, fasciae, or skin. Ankylosis and contracture can occur together or alone. Fibrous ankylosis refers to adhesions between the opposing surface of a joint. Cartilaginous ankylosis implies the fusion of two apposed cartilaginous surfaces. Bony ankylosis or synostosis refers to an osseous union between articulating surfaces. peter owl:Class HP:0045084 biolink:NamedThing Limb myoclonus tmpxe7fu0cj_hp_relaxed.owl Myoclonus of limbs Limb myoclonus was noted in Early myoclonic encephalopathy. See PMID:27789573 owl:Class HP:0010307 biolink:NamedThing Stridor Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. tmpxe7fu0cj_hp_relaxed.owl Noisy breathing SNOMEDCT_US:70407001|MSH:D012135|UMLS:C0038450|UMLS:C0237304|SNOMEDCT_US:248573009 Stridor is different from wheezing by the following reasons. It is louder over the neck than chest wall. Secondly; stridor is mainly inspiratory. If occurs in expiration, it is usually biphasic. On the other hand; wheeze is mainly expiratory and occurs during both phases. It indicates extrathoracic upper-airway obstruction (supraglottic lesions like laryngomalacia, vocal cord lesion) when heard on inspiration. It occurs in expiration if associated with intrathoracic tracheobronchial lesions (tracheomalacia, bronchomalacia, and extrinsic compression). It occurs in both phases if lesion is fixed, for example, stenosis. Stridor is caused by the turbulent flow passing through a narrowed segment of the upper respiratory tract. peter 2009-07-12T02:16:48Z human_phenotype owl:Class HP:0009441 biolink:NamedThing Bullet-shaped phalanges of the 3rd finger A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped bones of middle finger UMLS:C4024360 doelkens 2009-01-14T04:09:01Z human_phenotype owl:Class HP:0033529 biolink:NamedThing Abnormal cardiac index Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area. tmpxe7fu0cj_hp_relaxed.owl 2021-01-15 12:50:05+00:00 Cardiac output (CO) can be further broken down as the product of stroke volume (SV), which is the blood volume ejected by one heartbeat, and heart rate (HR), which is the number of heartbeats per minute. Therefore, the cardiac index can be defined as Cardiac Output / Body Surface Area = (Heart Rate * Stroke Volume) / Body Surface Area. peter owl:Class HP:0033528 biolink:NamedThing Abnormal cardiac output A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs. tmpxe7fu0cj_hp_relaxed.owl 2021-01-15 12:48:17+00:00 peter owl:Class HP:0032590 biolink:NamedThing Renal neutrophilic tubulitis Infiltration of the renal tubular epithelium by neutrophils. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0009854 biolink:NamedThing digestive tract diverticulum Branch or outpocketing of the digestive tract. tmpxe7fu0cj_hp_relaxed.owl intestinal pouch|diverticulum of gut FBbt:00100316 uberon owl:Class NBO:0000304 biolink:NamedThing memory loss behavior "Behavior related with the gradual loss of information and experiences stored in the memory of an organism." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl forgetting 2011-04-04T09:49:14Z George Gkoutos behavior_ontology owl:Class NBO:0000170 biolink:NamedThing memory behavior "Behavior related with the ability of an organism's ability to store, retain, and recall information and experiences." [NBO:GVG] GO:0007613 tmpxe7fu0cj_hp_relaxed.owl memory behaviour 2011-04-01T01:49:03Z George Gkoutos behavior_ontology owl:Class GO:0034756 biolink:NamedThing regulation of iron ion transport Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl regulation of iron transport|regulation of iron import|regulation of iron ion import|regulation of Fe transport mah 2012-04-18T04:00:14Z GO:1900390 biological_process owl:Class GO:0007611 biolink:NamedThing learning or memory The acquisition and processing of information and/or the storage and retrieval of this information over time. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0050890 biolink:NamedThing cognition The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Cognition biological_process owl:Class GO:0099082 biolink:NamedThing retrograde trans-synaptic signaling by neuropeptide Cell-cell signaling from postsynapse to presynapse, across the synaptic cleft, mediated by a neuropeptide. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0099540 biolink:NamedThing trans-synaptic signaling by neuropeptide Cell-cell signaling between presynapse and postsynapse mediated by a peptide ligand crossing the synaptic cleft. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0033047 biolink:NamedThing regulation of mitotic sister chromatid segregation Any process that modulates the frequency, rate or extent of sister chromatid segregation during mitosis. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0002614 biolink:NamedThing negative regulation of monocyte antigen processing and presentation Any process that stops, prevents, or reduces the frequency, rate, or extent of monocyte antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl down regulation of monocyte antigen processing and presentation|downregulation of monocyte antigen processing and presentation|down-regulation of monocyte antigen processing and presentation|inhibition of monocyte antigen processing and presentation biological_process owl:Class HP:0100183 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the middle bone of the 4th toe UMLS:C4022238 doelkens 2010-06-24T04:54:13Z human_phenotype owl:Class UBERON:0005661 biolink:NamedThing 3rd arch ectoderm An ectoderm that is part of a pharyngeal arch 3. tmpxe7fu0cj_hp_relaxed.owl 3rd pharyngeal arch ectoderm EMAPA:16584|EMAPA:16400|RETIRED_EHDAA2:0000079|EMAPA:16582|VHOG:0000946|EHDAA2:0000072 uberon owl:Class In all vertebrates, the pharyngeal apparatus develops from a series of bulges found on the lateral surface of the head, the pharyngeal arches, which consist of a number of different embryonic cell types. Each arch has an external covering of ectoderm and inner covering of endoderm, and between these a mesenchymal filling of neural crest with a central core of mesoderm.[well established][VHOG] HP:0009253 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 4th finger Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the outermost bone of the ring finger UMLS:C4024494 doelkens 2009-01-07T12:07:34Z human_phenotype owl:Class HP:0032247 biolink:NamedThing Persistent CMV viremia Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 13:32:28+00:00 Persistent CMV infection has important clinical relevance in the global population. Although immune-mediated control of CMV in healthy individuals prevents disease and overt clinical symptoms, immune dysregulation caused by immunosuppressive treatments in transplant and cancer patients, congenital immunodeficiencies, HIV/AIDS, and/or aging can result in CMV viremia, life threatening disease, and even death. peter owl:Class HP:0031692 biolink:NamedThing Severe cytomegalovirus infection An unusually severe infection by cytomegalovirus. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 22:31:35+00:00 A typical mononucleosis syndrome consists of an acute febrile illness with an increase of 50 percent or more in the number of lymphocytes or monocytes, with at least 10 percent of the lymphocytes being atypical. Immunocompromised patients may experience more severe complications such as CMV retinitis. peter owl:Class HP:0001609 biolink:NamedThing Hoarse voice Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. tmpxe7fu0cj_hp_relaxed.owl Husky voice|Hoarse voice|Hoarseness UMLS:C0019825|SNOMEDCT_US:50219008|MSH:D006685|UMLS:C1854348 HP:0001613|HP:0001619 human_phenotype owl:Class HP:0100542 biolink:NamedThing Abnormal localization of kidney An abnormal site of the kidney. tmpxe7fu0cj_hp_relaxed.owl Abnormal localisation of kidneys UMLS:C4020968 doelkens 2010-12-20T06:43:50Z human_phenotype owl:Class HP:0041045 biolink:NamedThing Increased neutrophil mitochondria An increased number of mitochondria detected in neutrophils. tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:140325 biolink:NamedThing secondary carboxamide A carboxamide resulting from the formal condensation of a carboxylic acid with a primary amine; formula RC(=O)NHR(1). tmpxe7fu0cj_hp_relaxed.owl secondary carboxamides 0 CHNOR2 43.025 43.00581 N(C(*)=O)(*)[H] chebi_ontology owl:Class HP:0045049 biolink:NamedThing Abnormal DLCO An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs. tmpxe7fu0cj_hp_relaxed.owl Abnormal transfer factor of the lung for carbon monoxide|Abnormal diffusing capacity|Abnormal TLCO UMLS:C4073173 Inhaled CO is used for this test due to its high affinity for hemoglobin (200-250 times that of oxygen). During a ten-second breath-hold, DLCO measures uptake of CO per unit time per mm of driving pressure of CO (cc of CO/sec/mm of Hg). owl:Class UBERON:0005728 biolink:NamedThing extraembryonic mesoderm tmpxe7fu0cj_hp_relaxed.owl extraembryonic mesenchyme|extra-embryonic mesoderm EMAPA:31863|VHOG:0000616|EHDAA2:0000474|EMAPA:31862|FMA:296719 uberon owl:Class CHEBI:76413 biolink:NamedThing greenhouse gas A gas in an atmosphere that absorbs and emits radiation within the thermal infrared range, so contributing to the 'greenhouse effect'. tmpxe7fu0cj_hp_relaxed.owl greenhouse gases Wikipedia:Greenhouse_gas chebi_ontology owl:Class HP:0003387 biolink:NamedThing Decreased number of large peripheral myelinated nerve fibers A reduced number of large myelinated nerve fibers. tmpxe7fu0cj_hp_relaxed.owl Loss of large myelinated fibres|Loss of larger myelinated nerve fibres|Loss of large myelinated fibers|Loss of larger myelinated nerve fibers|Decreased number of large peripheral myelinated nerve fibres|Depletion of large myelinated fibres|Depletion of large myelinated fibers UMLS:C1859606 This finding can be demonstrated by nerve biopsy. HP:0006868|HP:0007031|HP:0007315 human_phenotype owl:Class GO:0010948 biolink:NamedThing negative regulation of cell cycle process Any process that decreases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. tmpxe7fu0cj_hp_relaxed.owl tb 2009-04-27T09:53:22Z biological_process owl:Class CL:0011001 biolink:NamedThing spinal cord motor neuron A motor neuron that passes from the spinal cord toward or to a muscle and conducts an impulse that causes movement. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0032187 biolink:NamedThing Anal intraepithelial neoplasia Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer. tmpxe7fu0cj_hp_relaxed.owl 2019-01-15 10:14:28+00:00 Risk factors for AIN and anal cancer consist of clinical factors and behaviors that are associated with the acquisition and persistence of human papilloma virus (HPV) infection. Anal cancer is defined as cancer arising from the squamous epithelium of the anus, making it distinct from colorectal cancer. The anal canal consists of stratified squamous epithelium originating outside the body and extending into the anus up to the dentate line, the point where it intersects the columnar epithelium of the rectum. Thus, the vast majority of anal cancer is squamous cell carcinoma (SCC), with a small minority consisting of adenocarcinoma or skin cancer variants. Anal cancer is preceded by intraepithelial neoplasia, a premalignant lesion. peter owl:Class HP:0006747 biolink:NamedThing Ganglioneuroblastoma tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:116381000119105|UMLS:C0206718|SNOMEDCT_US:69515008|MSH:D018305 human_phenotype owl:Class HP:0020205 biolink:NamedThing Tubulointerstitial fungal infiltration Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. tmpxe7fu0cj_hp_relaxed.owl Renal tubulointerstitial fungal organisms Tubulointerstitial fungi be ascending or vascuolcentric/blood-born. This finding can be associated with necrotizing tubulointerstitial lesions. robinp 2019-12-23 16:33:20+00:00 owl:Class MAXO:0010362 biolink:NamedThing cystography procedure A radiographic procedure to obtain an image of the urinary bladder by filling the bladder with contrast medium. tmpxe7fu0cj_hp_relaxed.owl urinary bladder radiogram procedure|radiography of urinary bladder|urinary bladder X-ray procedure|cystographic imaging procedure|radiograph of urinary bladder|cystography 2020-04-27T20:39:14Z NCIT:C38049 http://orcid.org/0000-0001-7941-2961 owl:Class HP:0025509 biolink:NamedThing Piezogenic pedal papules Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 23:43:34+00:00 HPO:probinson owl:Class HP:0031554 biolink:NamedThing Reduced granulocyte CD55 level Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 23:23:06+00:00 peter owl:Class HP:0031553 biolink:NamedThing Reduced granulocyte surface marker level Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 23:21:50+00:00 peter owl:Class MPATH:387 biolink:NamedThing odontoma Hamartomatous malformation of odontogenic tissue. It may vary from nondescript masses of dental tissue (complex odontoma) to multiple well-formed teeth (compound odontoma). Cf ameloblastic fibro-odontoma. (M-9280/0). tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class UBERON:0003358 biolink:NamedThing epithelium of soft palate An epithelium that is part of a soft palate [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl soft palate epithelial tissue|epithelial tissue of soft palate|soft palate epithelium EMAPA:18950 uberon owl:Class HP:0001792 biolink:NamedThing Small nail A nail that is diminished in length and width, i.e., underdeveloped nail. tmpxe7fu0cj_hp_relaxed.owl Nail hypoplasia|Hypoplastic nail|Small nail|Hypoplastic nails|Small nails UMLS:C0263523|SNOMEDCT_US:11375002 HP:0001813 human_phenotype owl:Class HP:0410328 biolink:NamedThing Egg allergy Hypersensitivity in form of an adverse immune reaction against eggs. tmpxe7fu0cj_hp_relaxed.owl Allergy to eggs|Egg allergy|IgE-mediated egg allergy|Immunoglobulin E-mediated egg allergy owl:Class PR:P01308 biolink:NamedThing insulin gene translation product (human) An insulin gene translation product that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl hINS UniProtKB:P01308 Category=organism-gene. protein owl:Class PR:000009054 biolink:NamedThing insulin gene translation product An insulin family protein that is a translation product of the human INS gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl INS|insulin Category=gene. protein owl:Class HP:0008948 biolink:NamedThing Proximal upper limb amyotrophy Muscular atrophy affecting proximally located muscles of the arms. tmpxe7fu0cj_hp_relaxed.owl Proximal upper limb muscle atrophy|Proximal muscle atrophy in upper limbs UMLS:C1866013 HP:0008995 human_phenotype owl:Class UBERON:0034762 biolink:NamedThing areolar sweat gland Any sweat gland that is part of an areola. tmpxe7fu0cj_hp_relaxed.owl sweat gland of areola|areolar aprocine sweat gland FMA:62149 uberon owl:Class GO:2000293 biolink:NamedThing negative regulation of defecation Any process that stops, prevents or reduces the frequency, rate or extent of defecation. tmpxe7fu0cj_hp_relaxed.owl bf 2010-12-21T09:23:13Z biological_process owl:Class HP:0004814 biolink:NamedThing Fava bean-induced hemolytic anemia A kind of hemolytic anemia that is induced by the ingestion of fava beans. tmpxe7fu0cj_hp_relaxed.owl Hemolytic anemia following ingestion of fava beans|Fava bean-induced hemolytic anaemia|Hemolytic anaemia following ingestion of fava beans UMLS:C4021648 Persons with glucose-6-phosphate dehydrogenase (G6PD) deficiency are susceptible to fava bean-induced hemolytic anemia because of the oxidative stress induced by compunds in Fava beans (thought to be vicine and isouramil). The same underlying defect can make affected persons susceptible to hemolysis induced by a number of mediciations. human_phenotype owl:Class UBERON:0006068 biolink:NamedThing bone of tail A bone that is part of a post-anal tail. tmpxe7fu0cj_hp_relaxed.owl tail bone|tail vertebra MA:0000696|EMAPA:18042 uberon owl:Class MA has distinct classes for 'tail bone', 'caudal vertebra' and 'coccygeal vertebra' but these may all be equivalent. This class may be obsoleted in future. GO:0060785 biolink:NamedThing regulation of apoptosis involved in tissue homeostasis Any process that modulates the occurrence or rate of cell death by apoptosis that results in the maintenance of the steady-state number of cells within a tissue. tmpxe7fu0cj_hp_relaxed.owl dph 2009-07-31T01:49:54Z biological_process owl:Class HP:0500062 biolink:NamedThing Retinopathy of prematurity plus Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye. tmpxe7fu0cj_hp_relaxed.owl ROP plus 2018-02-19 20:17:35+00:00 ORCID:0000-0001-7941-2961 owl:Class UBERON:0005028 biolink:NamedThing mucosa of maxillary sinus A mucosa that is part of a maxillary sinus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucosa of organ of antrum of highmore|organ mucosa of maxillary sinus|mucous membrane of maxillary sinus|maxillary sinus mucosa of organ|maxillary sinus mucosa|maxillary sinus organ mucosa|antrum of highmore organ mucosa|mucosa of organ of maxillary sinus|organ mucosa of antrum of highmore|mucosa of antrum of highmore|antrum of highmore mucous membrane|maxillary sinus mucous membrane|antrum of highmore mucosa of organ|antrum of highmore mucosa|mucous membrane of antrum of highmore FMA:59773 uberon owl:Class HP:0002663 biolink:NamedThing Delayed epiphyseal ossification tmpxe7fu0cj_hp_relaxed.owl Delayed opacification of the epiphyses|Delayed epiphyseal ossification|Epiphyseal ossification delay|Delayed maturation of end part of long bone|Delayed epiphyseal maturation UMLS:C4280565|UMLS:C1865200 HP:0005862 human_phenotype owl:Class HP:0410336 biolink:NamedThing Venom allergy Hypersensitivity in form of an adverse immune reaction against insect venom. tmpxe7fu0cj_hp_relaxed.owl Venom allergy|Immunoglobulin E-mediated venom allergy|IgE-mediated venom allergy|Allergy to venom owl:Class HP:0410335 biolink:NamedThing Insect allergy Hypersensitivity in form of an adverse immune reaction against insects. tmpxe7fu0cj_hp_relaxed.owl Allergy to insects|IgE-mediated insect allergy|Immunoglobulin E-mediated insect allergy|Insect allergy owl:Class CHEBI:76619 biolink:NamedThing omega-methyl fatty acid anion A fatty acid anion obtained by deprotonation of the carboxy group of any omega-methyl fatty acid; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl an omega-methyl fatty acid -1 C2H3O2R 59.044 59.01330 C[*]C([O-])=O chebi_ontology owl:Class HP:0009321 biolink:NamedThing Absent epiphysis of the middle phalanx of the 3rd finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Absent end part of the middle bone of the middle finger UMLS:C4024444 doelkens 2009-01-12T11:15:44Z human_phenotype owl:Class HP:0012813 biolink:NamedThing Unilateral breast hypoplasia Underdevelopment of the breast on one side only. tmpxe7fu0cj_hp_relaxed.owl One underdeveloped breast UMLS:C1844722 hecht 2014-05-26T08:11:58Z human_phenotype owl:Class HP:0003187 biolink:NamedThing Breast hypoplasia Underdevelopment of the breast. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped breasts UMLS:C0266013|SNOMEDCT_US:8915006 HP:0000784 human_phenotype owl:Class HP:0004933 biolink:NamedThing Ascending aortic dissection A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. tmpxe7fu0cj_hp_relaxed.owl Type A aortic dissection UMLS:C1836653 According to the Stanford classification, type A aortic dissection affects the ascending aorta and arch. human_phenotype owl:Class HP:0002647 biolink:NamedThing Aortic dissection Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. tmpxe7fu0cj_hp_relaxed.owl Tear in inner wall of large artery that carries blood away from heart SNOMEDCT_US:308546005|UMLS:C0340643 HP:0002622 owl:Class GO:1901216 biolink:NamedThing positive regulation of neuron death Any process that activates or increases the frequency, rate or extent of neuron death. tmpxe7fu0cj_hp_relaxed.owl up regulation of neuron death|positive regulation of neuronal cell death|positive regulation of neuron cell death|up-regulation of neuron death|up-regulation of neuronal cell death|up regulation of neuron cell death|upregulation of neuronal cell death|up regulation of neuronal cell death|upregulation of neuron cell death|activation of neuron death|upregulation of neuron death|activation of neuronal cell death|up-regulation of neuron cell death|activation of neuron cell death rph 2012-08-02T09:58:15Z biological_process owl:Class UBERON:0003235 biolink:NamedThing epithelium of upper jaw An epithelium that is part of a upper jaw [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl upper jaw epithelium|upper jaw epithelial tissue|epithelial tissue of palatoquadrate arch|epithelial tissue of upper jaw|palatoquadrate arch epithelium|epithelium of palatoquadrate arch|palatoquadrate arch epithelial tissue EHDAA:8027|EHDAA2:0002119|EMAPA:18971|EMAPA:17943 uberon owl:Class UBERON:0003472 biolink:NamedThing cerebellar artery An artery that supplies blood to the cerebellum. tmpxe7fu0cj_hp_relaxed.owl NCIT:C52845|UMLS:C0226246|EHDAA:5290|EMAPA:37074|EHDAA2:0000228|MA:0001933 http://upload.wikimedia.org/wikipedia/commons/e/e1/CerebellumArteries.jpg uberon owl:Class GO:1904205 biolink:NamedThing negative regulation of skeletal muscle hypertrophy Any process that stops, prevents or reduces the frequency, rate or extent of skeletal muscle hypertrophy. tmpxe7fu0cj_hp_relaxed.owl downregulation of skeletal muscle hypertrophy|down-regulation of skeletal muscle hypertrophy|down regulation of skeletal muscle hypertrophy|inhibition of skeletal muscle hypertrophy sl 2015-05-08T17:38:19Z biological_process owl:Class GO:0043255 biolink:NamedThing regulation of carbohydrate biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of carbohydrates. tmpxe7fu0cj_hp_relaxed.owl regulation of carbohydrate anabolism|regulation of carbohydrate synthesis|regulation of carbohydrate formation|regulation of carbohydrate biosynthesis biological_process owl:Class HP:0033743 biolink:NamedThing Macular agenesis A congenital defect characterized by lack of development of the macula. tmpxe7fu0cj_hp_relaxed.owl 2021-04-16 14:35:12+00:00 peter owl:Class HP:0010388 biolink:NamedThing Patchy sclerosis of 5th toe phalanx Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Patchy sclerosis of the phalanges of the 5th toe|Uneven increase in bone density in pinkie toe bone|Uneven increase in bone density in little toe bone|Uneven increase in bone density in pinky toe bone UMLS:C4021275 doelkens 2009-07-16T11:52:18Z human_phenotype owl:Class GO:0042462 biolink:NamedThing eye photoreceptor cell development Development of a photoreceptor, a sensory cell in the eye that reacts to the presence of light. They usually contain a pigment that undergoes a chemical change when light is absorbed, thus stimulating a nerve. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0003935 biolink:NamedThing Wide humeral diaphysis Increased width of the humeral diaphysis. tmpxe7fu0cj_hp_relaxed.owl Wide shaft of long bone in upper arm|Broad humeral diaphysis|Broad shaft of long bone in upper arm UMLS:C4021704 human_phenotype owl:Class HP:0033012 biolink:NamedThing Abnormal salivary metabolite concentration Any deviation from the normal concentration of a metabolite in saliva. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class PATO:0000411 biolink:NamedThing circular A shape quality inhering in a bearer by virtue of the bearer's being such that every part of the surface or the circumference is equidistant from the center. tmpxe7fu0cj_hp_relaxed.owl rounded|round quality owl:Class UBERON:0035597 biolink:NamedThing profundal placode An embryonic structure positioned halfway between the prospective eye and ear, adjacent to the future midbrain-hindbrain boundary. The profundal and the trigeminal ganglia are separate distally but fused at their proximal end as they condense around NF stage 24. tmpxe7fu0cj_hp_relaxed.owl ophthalmic placode|ophthalmic lobe of trigeminal placode complex|ophthalmic lobe of trigeminal placode|profundus placode XAO:0004093 uberon owl:Class HP:0002427 biolink:NamedThing Expressive aphasia Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it. tmpxe7fu0cj_hp_relaxed.owl Loss of expressive speech|Broca's aphasia|Non-fluent aphasia|Motor aphasia SNOMEDCT_US:328681008|SNOMEDCT_US:229665008|MSH:D001039|UMLS:C0003550|UMLS:C0917814|SNOMEDCT_US:229654003 owl:Class HP:0004785 biolink:NamedThing Malrotation of colon An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:6477005|UMLS:C0266196 human_phenotype owl:Class HP:0002566 biolink:NamedThing Intestinal malrotation An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. tmpxe7fu0cj_hp_relaxed.owl Gut malrotation|Malrotation SNOMEDCT_US:48641006|UMLS:C0221210|SNOMEDCT_US:29980002|MSH:C562456|SNOMEDCT_US:253789002|MEDDRA:10064024 HP:0002026 human_phenotype owl:Class UBERON:0016399 biolink:NamedThing lymph node of upper limb A lymph node that is part of a forelimb. tmpxe7fu0cj_hp_relaxed.owl FMA:44311 uberon owl:Class CL:0000136 biolink:NamedThing fat cell A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of triglycerides. tmpxe7fu0cj_hp_relaxed.owl adipose cell|adipocyte BTO:0000443|FMA:63880|CALOHA:TS-0012 CL:0000450 cell owl:Class HP:0011180 biolink:NamedThing Partial beta-EEG EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023492 A partial beta-EEG is a rare finding but not generally pathologic. hecht 2011-11-19T10:25:50Z human_phenotype owl:Class UBERON:0015853 biolink:NamedThing dental pulp of median incisor tusk A dental pulp that is part of a narwhal tusk. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0100144 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the outermost bone of the 3rd toe UMLS:C4022277 doelkens 2010-06-24T10:23:44Z human_phenotype owl:Class NCBITaxon:33090 biolink:NamedThing Viridiplantae tmpxe7fu0cj_hp_relaxed.owl Chloroplastida|chlorophyte/embryophyte group|Chlorobionta|green plants|Chlorophyta/Embryophyta group GC_ID:1|PMID:16248873|PMID:30257078 ncbi_taxonomy owl:Class HP:0004422 biolink:NamedThing Biparietal narrowing A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). tmpxe7fu0cj_hp_relaxed.owl Decreased width of the skull UMLS:C1854418|UMLS:C4280532 peter 2008-03-18T09:35:00Z human_phenotype owl:Class CHEBI:23019 biolink:NamedThing carbonyl group tmpxe7fu0cj_hp_relaxed.owl carbonyl|carbonyl group|>C=O 0 CO 28.01010 27.99491 O=C(*)* chebi_ontology owl:Class CHEBI:51422 biolink:NamedThing organodiyl group Any organic substituent group, regardless of functional type, having two free valences at carbon atom(s). tmpxe7fu0cj_hp_relaxed.owl organodiyl groups chebi_ontology owl:Class HP:0025231 biolink:NamedThing Abnormality of synovial bursa morphology A structural anomaly of a synovial bursa. tmpxe7fu0cj_hp_relaxed.owl 2016-12-14 11:29:35+00:00 A synovial bursa is a small fluid-filled saclike cavity that facilitates the gliding of muscles or tendons over bony or ligamentous surfaces. There are numerous synovial bursae in the body, for instance at the shoulder, elbow, knee, and hip. HPO:probinson owl:Class HP:0010164 biolink:NamedThing Cone-shaped epiphyses of the toes tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the toe bones UMLS:C4023995 doelkens 2009-05-29T01:34:06Z human_phenotype owl:Class CL:0001019 biolink:NamedThing CD115-positive monocyte OR common dendritic progenitor tmpxe7fu0cj_hp_relaxed.owl Originally described in the dendritic cell ontology (DC_CL:1111000)(PMID:19243617). cell owl:Class GO:2000215 biolink:NamedThing negative regulation of proline metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of proline metabolic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of proline metabolism mah 2010-11-03T02:45:24Z biological_process owl:Class NBO:0000119 biolink:NamedThing impulsive behavior "A behavior that occur quickly without control, planning, or consideration of the consequences of that behavior." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-03-31T11:08:55Z George Gkoutos behavior_ontology owl:Class HP:0006508 biolink:NamedThing Abnormality of tibial epiphyses tmpxe7fu0cj_hp_relaxed.owl Abnormality of end part of shinbone UMLS:C4025030 peter 2008-03-29T09:19:00Z human_phenotype owl:Class HP:0004014 biolink:NamedThing Broad radial epiphyseal plate Abnormal increase in width of the epiphyseal growth plate of the radius. tmpxe7fu0cj_hp_relaxed.owl Wide radial epiphyseal plates UMLS:C4021693 human_phenotype owl:Class HP:0008455 biolink:NamedThing Dysplastic sacrum A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally. tmpxe7fu0cj_hp_relaxed.owl Absence of some of the sacral and coccygeal bones|Sacral dysgenesis|Partial sacral agenesis UMLS:C1851305 human_phenotype owl:Class HP:0002154 biolink:NamedThing Hyperglycinemia An elevated concentration of glycine in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated blood glycine levels|Hyperglycinaemia UMLS:C0268559|SNOMEDCT_US:64654004 Normal blood glycine levels are around 200-250 micromole per liter. human_phenotype owl:Class HP:0009636 biolink:NamedThing Triangular shaped proximal phalanx of the thumb Triangular shaped proximal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Triangular proximal thumb phalanx|Triangular innermost thumb bone UMLS:C4021419 doelkens 2009-01-29T05:09:41Z HP:0004080 human_phenotype owl:Class HP:0025444 biolink:NamedThing Reduced amygdala volume A decrease in the volume (size) of the amygdyla. tmpxe7fu0cj_hp_relaxed.owl Decrease in amygdala volume 2017-04-29 21:34:14+00:00 HPO:probinson owl:Class HP:0100195 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the innermost bone of the 4th toe UMLS:C4022226 doelkens 2010-06-24T04:54:59Z human_phenotype owl:Class HP:0011525 biolink:NamedThing Iris nevus A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated. tmpxe7fu0cj_hp_relaxed.owl Eye freckle UMLS:C0346376|SNOMEDCT_US:95711003 peter 2012-04-06T09:11:42Z human_phenotype owl:Class GO:0031049 biolink:NamedThing programmed DNA elimination The DNA metabolic process in which micronuclear-limited sequences, internal eliminated sequences (IES) and breakage eliminated sequences (BES) are removed from the developing macronucleus (anlage) of a ciliate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0005397 biolink:NamedThing brain arachnoid mater An arachnoid mater that surrounds a brain. tmpxe7fu0cj_hp_relaxed.owl arachnoidea mater encephali|arachnoidea mater cranialis|brain arachnoid matter|cranial arachnoid mater EMAPA:32661|MA:0000814|NCIT:C49331|VHOG:0000230|FMA:83981 uberon owl:Class The middle membrane of the three mammalian meninges covering the brain and spinal cord. [TFD][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] HP:0009429 biolink:NamedThing Aplasia of the distal phalanx of the 3rd finger Absence of the distal phalanx of the middle (3rd) finger. tmpxe7fu0cj_hp_relaxed.owl Absent of the outermost bone of the middle finger UMLS:C4024368 doelkens 2009-01-14T03:18:42Z human_phenotype owl:Class PATO:0001782 biolink:NamedThing increased intensity An intensity which is relatively high. tmpxe7fu0cj_hp_relaxed.owl high intensity quality owl:Class HP:0500264 biolink:NamedThing Increased helper T cell proportion Increased proportion of helper T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Elevated helper T cell proportion|Increased proportion T-helper cells 2020-05-15 19:19:04+00:00 owl:Class HP:0010284 biolink:NamedThing Intra-oral hyperpigmentation Increased pigmentation, either focal or generalized, of the mucosa of the mouth. tmpxe7fu0cj_hp_relaxed.owl Oral mucosa melanin pigmentation|Gingival melanin pigmentation|Dark colour of gums|Pigmented gums|Oral racial pigmentation|Hyperpigmentation of oral mucosa|Dark color of gums|Gingival hyperpigmentation UMLS:C0399483|UMLS:C0877541|UMLS:C4280388|UMLS:C4280389|UMLS:C4280387|SNOMEDCT_US:235038002 Pigmentation of alveolar ridges is common in people with dark skin pigmentation. This term encompasses a range of pigmentary findings, from freckles to generalized hyperpigmentation. peter 2009-07-12T10:33:11Z human_phenotype owl:Class HP:0002891 biolink:NamedThing Uterine leiomyosarcoma The presence of a leiomyosarcoma of the uterus. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3158|UMLS:C0280631|SNOMEDCT_US:447389009 Leiomyosarcoma is a malignant tumor derived form pluripotential mesenchymal stem cells or smooth muscle cells [MPATH]. human_phenotype owl:Class GO:0003278 biolink:NamedThing apoptotic process involved in heart morphogenesis Any apoptotic process that contributes to the shaping of the heart. tmpxe7fu0cj_hp_relaxed.owl apoptosis involved in heart morphogenesis dph 2009-10-20T09:40:22Z biological_process owl:Class UBERON:0008459 biolink:NamedThing prezygapophysis of cervical vertebra A prezygapophysis that is part of a cervical vertebra. tmpxe7fu0cj_hp_relaxed.owl superior articular process of cervical segment|superior articular process of cervical vertebra FMA:23969 uberon owl:Class HP:0008465 biolink:NamedThing Absent vertebra A developmental defect characterized by agenesis of one or more vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl Absent vertebrae SNOMEDCT_US:15843004|UMLS:C0158776 human_phenotype owl:Class HP:0009509 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 2nd finger A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024322 doelkens 2009-01-16T01:11:04Z human_phenotype owl:Class HP:0030334 biolink:NamedThing Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022502 owl:Class HP:0030333 biolink:NamedThing Abnormal alpha-beta T cell morphology A structuraly anomaly of T cells that express an alpha-beta T cell receptor. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022503 Normally, most T cells express a T cell receptor (TCR) that consists of an alpha and a beta chain. A smaller subset of T cells express a TCR consisting of gamma and delta chains, owl:Class HP:0033624 biolink:NamedThing History of congenital CMV infection A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits. tmpxe7fu0cj_hp_relaxed.owl History of congenital cytomegalovirus infection 2021-01-30 23:08:18+00:00 peter owl:Class HP:0030674 biolink:NamedThing Antenatal onset Onset prior to birth. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2673646 owl:Class GO:0098867 biolink:NamedThing intramembranous bone growth The increase in size or mass of an intramembranous bone that contributes to the shaping of the bone. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0098868 biolink:NamedThing bone growth The increase in size or mass of a bone that contributes to the shaping of that bone. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class PATO:0001824 biolink:NamedThing dry A wetness quality inhering in a bearer by virtue of the bearer's not being covered by a liquid. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class UBERON:0004427 biolink:NamedThing proximal epiphysis of first metatarsal bone A proximal epiphysis that is part of a metatarsal bone of digit 1 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of first metatarsal bone|proximal epiphysis of metatarsal 1|proximal end of first metatarsal bone FMA:42963 uberon owl:Class CHEBI:66922 biolink:NamedThing citrullinate An alpha-amino acid anion that is the conjugate base of citrulline, obtained by deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl 2-amino-5-(carbamoylamino)pentanoate -1 C6H12N3O3 InChI=1S/C6H13N3O3/c7-4(5(10)11)2-1-3-9-6(8)12/h4H,1-3,7H2,(H,10,11)(H3,8,9,12)/p-1 RHGKLRLOHDJJDR-UHFFFAOYSA-M 174.17780 174.08841 NC(CCCNC(N)=O)C([O-])=O chebi_ontology owl:Class GO:0016202 biolink:NamedThing regulation of striated muscle tissue development Any process that modulates the frequency, rate or extent of striated muscle development. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0012489 biolink:NamedThing muscle layer of colon A muscular coat that is part of a colon. tmpxe7fu0cj_hp_relaxed.owl muscular coat of colon|colon muscularis|colonic muscularis propria|muscularis externa of colon|tunica muscularis coli|muscular layer of colon FMA:14986|MA:0003198|EMAPA:27383 uberon owl:Class CHEBI:51060 biolink:NamedThing hormone agonist A chemical substance which binds to specific hormone receptors activating the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class GO:0120276 biolink:NamedThing regulation of cerebral blood circulation Any process that modulates the frequency, rate or extent of cerebral blood circulation. tmpxe7fu0cj_hp_relaxed.owl regulation of telencephalon blood circulation|regulation of cerebrum blood circulation https://github.com/geneontology/go-ontology/issues/20107 krc 2020-10-21T06:52:22Z biological_process owl:Class HP:0011967 biolink:NamedThing Decreased circulating copper concentration A reduced concentration of copper in the blood. tmpxe7fu0cj_hp_relaxed.owl Hypocupremia|Reduced serum copper|Copper deficiency UMLS:C0268070|SNOMEDCT_US:19577007 peter 2012-07-18T08:29:13Z human_phenotype owl:Class HP:0010836 biolink:NamedThing Abnormal circulating copper concentration An abnormal concentration of copper. tmpxe7fu0cj_hp_relaxed.owl Abnormal copper levels UMLS:C4023689|UMLS:C4020766 An abnormality in the concentration of copper, which normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins. peter 2010-07-10T07:39:09Z human_phenotype owl:Class HP:0009478 biolink:NamedThing Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal. tmpxe7fu0cj_hp_relaxed.owl Fused innermost bone of ring finger with 4th long bone of hand UMLS:C4024341 doelkens 2009-01-15T10:24:03Z human_phenotype owl:Class HP:0033731 biolink:NamedThing Focal lupus nephritis A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations tmpxe7fu0cj_hp_relaxed.owl Class III lupus nephritis 2021-04-16 13:45:49+00:00 peter owl:Class UBERON:0014875 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit 5 A distal epiphysis that is part of a distal phalanx of pedal digit 5. tmpxe7fu0cj_hp_relaxed.owl head of distal phalanx of fifth digit of foot|distal end of distal phalanx of little toe|distal epiphysis of distal phalanx of pedal digit V|ungual tuberosity of distal phalanx of fifth toe|distal epiphysis of distal phalanx of little toe|head of distal phalanx of fifth toe|head of distal phalanx of little toe FMA:33106 uberon owl:Class HP:0032927 biolink:NamedThing Focal impaired awareness undressing automatism seizure A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0025367 biolink:NamedThing Trichoepithelioma A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age. tmpxe7fu0cj_hp_relaxed.owl 2017-02-20 14:24:28+00:00 HPO:probinson owl:Class HP:0012843 biolink:NamedThing Hair follicle neoplasm An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:44155009|NCIT:C3262|UMLS:C0859920 peter 2014-06-06T08:03:49Z human_phenotype owl:Class HP:0012853 biolink:NamedThing Scrotal hypospadias Hypospadias with location of the urethral meatus in the scrotum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2197691|SNOMEDCT_US:702462000 hecht 2014-06-08T10:56:11Z human_phenotype owl:Class GO:1901318 biolink:NamedThing negative regulation of flagellated sperm motility tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0009584 biolink:NamedThing detection of visible light The series of events in which a visible light stimulus is received by a cell and converted into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm. tmpxe7fu0cj_hp_relaxed.owl perception of visible light biological_process owl:Class HP:0032329 biolink:NamedThing Increased urinary 11-deoxycortisol level An abnormally elevated concentration of 11-deoxycortisol in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-02-18 13:41:41+00:00 Increased urinary 11-Deoxycortisol is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency. peter owl:Class HP:0012229 biolink:NamedThing CSF pleocytosis An increased white blood cell count in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Cerebrospinal fluid pleocytosis|Increased leukocyte count in CSF SNOMEDCT_US:91454002|UMLS:C0151857|MSH:D007964 peter 2013-03-31T09:01:55Z human_phenotype owl:Class HP:0100480 biolink:NamedThing Proximal/middle symphalangism of 3rd toe Bony fusion of the middle and proximal phalanges of the 3rd toe. tmpxe7fu0cj_hp_relaxed.owl Fused innermost and middle bones of 3rd toe|Symphalangism of the middle and proximal phalanges of the 3rd toe UMLS:C4020975 human_phenotype owl:Class GO:1905554 biolink:NamedThing negative regulation of vessel branching Any process that stops, prevents or reduces the frequency, rate or extent of blood vessel branching. tmpxe7fu0cj_hp_relaxed.owl negative regulation of branching involved in blood vessel morphogenesis|down-regulation of branching involved in blood vessel morphogenesis|down-regulation of patterning of blood vessels|downregulation of patterning of blood vessels|inhibition of patterning of blood vessels|downregulation of branching involved in blood vessel morphogenesis|down regulation of branching involved in blood vessel morphogenesis|down regulation of patterning of blood vessels|inhibition of branching involved in blood vessel morphogenesis nc 2016-10-12T14:19:41Z biological_process owl:Class UBERON:0001870 biolink:NamedThing frontal cortex Anterior portion of the neocortex, lying anterior to the central sulcus in humans. It is bounded by the parietal cortex posteriorly and the temporal cortex laterally[NIFSTD,modified]. tmpxe7fu0cj_hp_relaxed.owl frontal lobe cortex|frontal neocortex|grey matter of frontal lobe|cortex of frontal lobe|gray matter of frontal lobe DHBA:10161|GAID:674|FMA:242199|BTO:0000484|DMBA:16002|NLXANAT:20090601|EMAPA:35357|MA:0000905 http://upload.wikimedia.org/wikipedia/commons/b/b4/Gray729.png uberon owl:Class Anterior portion of the frontal cortex, lying anterior to the central sulcus. It is bounded by the parietal cortex posteriorly and the temporal cortex laterally. HP:0004796 biolink:NamedThing Gastrointestinal obstruction tmpxe7fu0cj_hp_relaxed.owl Gastrointestinal obstruction|GI obstruction|Obstruction in digestive tract UMLS:C0236124|SNOMEDCT_US:126765001 human_phenotype owl:Class UBERON:0004435 biolink:NamedThing proximal epiphysis of distal phalanx of manual digit 5 A proximal epiphysis that is part of a distal phalanx of manual digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl basal epiphysis of distal phalanx of fifth finger|base of distal phalanx of fifth digit of hand|basal epiphysis of distal phalanx of little finger|proximal epiphysis of distal phalanx of little finger|base of distal phalanx of fifth finger|base of distal phalanx of little finger|proximal epiphysis of distal phalanx of manual digit V FMA:37541 uberon owl:Class HP:0033152 biolink:NamedThing Abnormal pharynx physiology A functional anomaly of the pharynx. tmpxe7fu0cj_hp_relaxed.owl 2020-09-20 11:18:32+00:00 peter owl:Class HP:0000600 biolink:NamedThing Abnormality of the pharynx An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025838 The pharynx is tubular structure extending from base of skull superiorly to esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system. owl:Class HP:0007456 biolink:NamedThing Progressive reticulate hyperpigmentation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024872 human_phenotype owl:Class HP:0032371 biolink:NamedThing Isoleucinuria An increased concentration of isoleucine in the urine. tmpxe7fu0cj_hp_relaxed.owl Hyperisoleucinuria 2019-02-23 19:14:44+00:00 peter owl:Class CHEBI:23509 biolink:NamedThing cysteine derivative An amino acid derivative resulting from reaction of cysteine at the amino group, carboxy group, or thiol group, or from the replacement of any hydrogen of cysteine by a heteroatom. The definition normally excludes peptides containing cysteine residues. tmpxe7fu0cj_hp_relaxed.owl cysteine derivative|cysteine derivatives CHEBI:25309 chebi_ontology owl:Class HP:0031739 biolink:NamedThing Abnormal oblique muscle physiology A functional anomaly of the inferior or superior oblique muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 13:53:14+00:00 The superior oblique muscle is responsible for incyclotorsion (inward turning) or the eye. The inferior oblique muscle is responsible for excyclotorsion (outward turning) or the eye. peter owl:Class UBERON:0010697 biolink:NamedThing pedal digit metatarsal cartilage element tmpxe7fu0cj_hp_relaxed.owl foot digit metatarsal cartilage condensation|metatarsal cartilage condensation|hind limb digit metatarsal cartilage condensation EMAPA:32951 EMAPA represents the specific child classes as being part of the digit mesenchyme - we follow this although for the fully formed structure we represent the metatarsals as adjoining rather than being part of the digit skeleton uberon owl:Class HP:0009744 biolink:NamedThing Abnormal spinal dura mater morphology An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the spinal dura mater UMLS:C4024214 peter 2009-01-31T02:20:51Z human_phenotype owl:Class HP:0002246 biolink:NamedThing Abnormal duodenum morphology An abnormality of the duodenum, i.e., the first section of the small intestine. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the duodenum UMLS:C4025716 owl:Class GO:2000258 biolink:NamedThing negative regulation of protein activation cascade Any process that stops, prevents or reduces the frequency, rate or extent of protein activation cascade. tmpxe7fu0cj_hp_relaxed.owl negative regulation of protein activitory cascade|negative regulation of protein activation pathway mah 2010-11-23T11:33:51Z biological_process owl:Class GO:0051248 biolink:NamedThing negative regulation of protein metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of chemical reactions and pathways involving a protein. tmpxe7fu0cj_hp_relaxed.owl down regulation of protein metabolic process|negative regulation of protein metabolism|downregulation of protein metabolic process|down-regulation of protein metabolic process|inhibition of protein metabolic process biological_process owl:Class PATO:0001999 biolink:NamedThing lacks parts or has fewer parts of type The bearer of this quality has_part < n of the indicated entity type, where n is the normal amount for a comparable organism. Note that the bearer of the quality is the whole, not the part. Formally: If a bearer entity e has fewer parts of type X at time t, then the number of instances x of X at t such that x part_of e is < n, where n is either the normal number for comparable entities, or n is stated explicitly. This case includes the limit case, where the bearer lacks all parts of the specified type. tmpxe7fu0cj_hp_relaxed.owl loss of quality owl:Class HP:0005627 biolink:NamedThing Type D brachydactyly This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. tmpxe7fu0cj_hp_relaxed.owl Brachydactyly type D MSH:C562420|UMLS:C0220664 human_phenotype owl:Class HP:0012892 biolink:NamedThing Facial muscle hypertrophy Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve). tmpxe7fu0cj_hp_relaxed.owl Hyperplasia of facial muscles|Increased size of facial muscles|Large facial muscles UMLS:C4280307|UMLS:C4022691 peter 2014-06-23T10:58:42Z human_phenotype owl:Class PR:P25918 biolink:NamedThing B-lymphocyte antigen CD19 (mouse) A CD19 molecule that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl CD19 (mouse)|mCD19|differentiation antigen CD19 (mouse)|Cd19 UniProtKB:P25918 Category=organism-gene. protein owl:Class HP:0033288 biolink:NamedThing Glomerular basement membrane spikes tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 21:16:42+00:00 Delicate, silver positive projections that extend at right angles from the glomerular basement membrane (GBM) out into the urinary space, creating an irregular GBM profile. peter owl:Class HP:0030926 biolink:NamedThing 5-minute APGAR score of 6 tmpxe7fu0cj_hp_relaxed.owl 2016-11-07 18:15:03+00:00 robinp owl:Class HP:0030919 biolink:NamedThing Low 5-minute APGAR score tmpxe7fu0cj_hp_relaxed.owl Low five-minute APGAR score 2016-11-07 18:06:42+00:00 A normal APGAR score can be coded as 'not Low 5-minute APGAR score'. robinp owl:Class PATO:0001618 biolink:NamedThing increased tonicity A tonicity which is relatively high. tmpxe7fu0cj_hp_relaxed.owl high tonicity quality owl:Class MPATH:124 biolink:NamedThing infarct An area of necrosis resulting from a sudden cessation of arterial or venous blood supply. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class MPATH:105 biolink:NamedThing circulatory disorder Lesions leading to or consequent on failure of, or atypical movement of, blood throughout the body. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0000484 biolink:NamedThing Hyperopic astigmatism A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1847524|SNOMEDCT_US:449734001 human_phenotype owl:Class HP:0012623 biolink:NamedThing Stage 1 chronic kidney disease A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). tmpxe7fu0cj_hp_relaxed.owl UMLS:C2316401|SNOMEDCT_US:431855005 Proteinuria is commonly seen in stage 1 chronic kidney disease. peter 2014-01-17T01:20:48Z human_phenotype owl:Class HP:0012152 biolink:NamedThing Foveoschisis Splitting of the retinal layers in the macula. tmpxe7fu0cj_hp_relaxed.owl Retinoschisis involving the fovea UMLS:C2674407 peter 2012-09-16T09:06:26Z human_phenotype owl:Class HP:0000493 biolink:NamedThing Abnormal foveal morphology An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the fovea UMLS:C4025849 peter 2008-04-02T01:29:00Z human_phenotype owl:Class HP:0100270 biolink:NamedThing Abnormality of dorsoventral patterning of the limbs An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022174 doelkens 2010-07-22T05:02:27Z human_phenotype owl:Class HP:0032506 biolink:NamedThing Alien limb phenomenon Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb. tmpxe7fu0cj_hp_relaxed.owl 2019-05-23 23:05:15+00:00 Alien limb serves as a diagnostic feature of corticobasal syndrome. peter owl:Class HP:0007678 biolink:NamedThing Lacrimal duct stenosis Narrowing of a tear duct (lacrimal duct). tmpxe7fu0cj_hp_relaxed.owl Narrowing of the tear duct|Nasolacrimal duct stenosis SNOMEDCT_US:231841004|UMLS:C0238300 HP:0007669 human_phenotype owl:Class UBERON:0018623 biolink:NamedThing lower secondary incisor tooth tmpxe7fu0cj_hp_relaxed.owl lower permanent incisor tooth|permanent lower incisor tooth|mandibular secondary incisor tooth FMA:55713 uberon owl:Class HP:0002045 biolink:NamedThing Hypothermia Reduced body temperature due to failed thermoregulation. tmpxe7fu0cj_hp_relaxed.owl Abnormally low body temperature|Hypothermia MSH:D007035|UMLS:C0020672|SNOMEDCT_US:386689009 A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F). owl:Class CHEBI:50248 biolink:NamedThing hematologic agent Drug that acts on blood and blood-forming organs and those that affect the hemostatic system. tmpxe7fu0cj_hp_relaxed.owl hematologic agents chebi_ontology owl:Class HP:0001477 biolink:NamedThing Compensatory chin elevation A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. tmpxe7fu0cj_hp_relaxed.owl Compensatory head tilt/chin elevation UMLS:C1846911 human_phenotype owl:Class UBERON:5003624 biolink:NamedThing manual digit 4 plus metapodial segment A subdivision of the autopod consisting of manual digit 4 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl manual digit 4 digitopodial subdivision|manual digit IV plus metapodial segment|manual digit 4 ( phalanges plus metapodial) plus soft tissue|manual digit 4|manual digit 4 ray this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class CHEBI:36044 biolink:NamedThing antiviral drug A substance used in the prophylaxis or therapy of virus diseases. tmpxe7fu0cj_hp_relaxed.owl antiviral drugs|anti-viral drug|anti-virus drug chebi_ontology owl:Class HP:0000753 biolink:NamedThing Autism with high cognitive abilities tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025832 human_phenotype owl:Class HP:0009398 biolink:NamedThing Irregular epiphyses of the 4th finger Irregular radiographic opacity of the epiphyses of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the ring finger bones UMLS:C4024392 doelkens 2009-01-13T01:59:12Z human_phenotype owl:Class HP:0011889 biolink:NamedThing Bleeding with minor or no trauma Significant bleeding or hemorrhage without significant precipitating factor. tmpxe7fu0cj_hp_relaxed.owl Bleeding with minor or no trauma|Easy bleeding UMLS:C4023143 peter 2012-06-02T11:32:13Z human_phenotype owl:Class HsapDv:0000089 biolink:NamedThing young adult stage Early adulthood that refers to an adult who is under 25. tmpxe7fu0cj_hp_relaxed.owl 19-24 years human_developmental_stage 25.0 19.0 owl:Class UBERON:0010568 biolink:NamedThing manual digit 4 metacarpus pre-cartilage condensation A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 4 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl manual digit IV metacarpus pre-cartilage condensation|hand digit 4 metacarpus pre-cartilage condensation|fore limb digit 4 metacarpus pre-cartilage condensation|metacarpal 4 pre-cartilage condensation|finger 4 metacarpus pre-cartilage condensation EMAPA:17720|EHDAA2:0000533 uberon owl:Class UBERON:0004522 biolink:NamedThing vasculature of musculoskeletal system A vasculature that is part of a musculoskeletal system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:239607 uberon owl:Class HP:0032384 biolink:NamedThing Uniparental isodisomy A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 15:05:18+00:00 peter owl:Class HP:0410261 biolink:NamedThing Wide space between 4th and 5th toe A widely spaced gap between the fourth toe and the fifth (pinky) toe. tmpxe7fu0cj_hp_relaxed.owl Wide space between the 4th and 5th toe 2018-10-19 22:00:03+00:00 owl:Class UBERON:0004993 biolink:NamedThing mucosa of sigmoid colon A mucosa that is part of a sigmoid colon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucosa of organ of sigmoid colon|sigmoid colon mucosa|sigmoid colon organ mucosa|sigmoid colon mucous membrane|mucous membrane of sigmoid colon|organ mucosa of sigmoid colon|sigmoid colon mucosa of organ FMA:15026 uberon owl:Class HP:0032218 biolink:NamedThing Decreased proportion of CD4-positive T cells A reduction in the proportion of CD4-positive T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Reduced proportion of CD4-positive cells|Decreased proportion of CD4+ cells|Decreased proportion of CD4-positive, alpha-beta T cells 2019-01-21 00:48:24+00:00 peter owl:Class UBERON:0005401 biolink:NamedThing cerebral hemisphere gray matter A gray matter that is part of a cerebral hemisphere. tmpxe7fu0cj_hp_relaxed.owl cerebral gray matter|cerebral hemisphere grey matter|cerebral grey matter EMAPA:37477|BTO:0000823|CALOHA:TS-2361|FMA:61821|MA:0000944 uberon owl:Class BTO may actually be a more generic structure; FMA may represent a more specific structure. Consider merging with gray matter of telencephalon HGNC:6081 biolink:NamedThing INS (human) A protein coding gene INS in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class HP:0009379 biolink:NamedThing Rhomboid or triangular shaped 5th finger distal phalanx Rhomboid or triangular shaped 5th (little) finger distal phalanx. tmpxe7fu0cj_hp_relaxed.owl Rhomboid or triangular shaped little finger bone|Rhomboid or triangular shaped pinky finger bone|Rhomboid or triangular shaped pinkie finger bone UMLS:C4024408 doelkens 2009-01-13T01:01:44Z human_phenotype owl:Class HP:0410271 biolink:NamedThing Laryngeal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions. tmpxe7fu0cj_hp_relaxed.owl Throat hemangioma 2018-10-30 02:15:03+00:00 owl:Class HP:0008772 biolink:NamedThing Aplasia/Hypoplasia of the external ear The presence of aplasia or developmental hypoplasia of all or part of the external ear. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped external ear|Absent/small external ear UMLS:C4024626 peter 2008-04-04T05:45:00Z human_phenotype owl:Class UBERON:0000220 biolink:NamedThing atlanto-occipital joint The Atlanto-occipital joint (articulation between the atlas and the occipital bone) consists of a pair of condyloid joints. The atlanto-occipital joint is a synovial joint. The ligaments connecting the bones are: Two Articular capsules; Posterior atlantoöccipital membrane; Anterior atlantoöccipital membrane; Lateral atlantoöccipital. tmpxe7fu0cj_hp_relaxed.owl articulatio atlanto-occipitalis|occipito-atlantal joint|atlanto occipital joint|atlantooccipital joint|occipito atlantal joint|craniovertebral joint|articulatio atlantooccipitalis FMA:24939|UMLS:C0004169|ncithesaurus:Atlanto-occipital_Joint-Atlanto|NCIT:C32158 http://upload.wikimedia.org/wikipedia/commons/d/d4/Gray304.png uberon owl:Class GO:2000609 biolink:NamedThing regulation of thyroid hormone generation tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0032714 biolink:NamedThing Focal impaired awareness bilateral motor seizure A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032715 biolink:NamedThing Focal bilateral motor seizure A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset. tmpxe7fu0cj_hp_relaxed.owl Not to be confused with a focal to bilateral tonic-clonic seizure (to which it may progress). Certain frontal lobe seizure sub-types have bilateral motor features at onset, often with asymmetric posturing. Typically, there is extension of the upper limb (at the elbow) contralateral to the hemisphere of seizure onset (often with a clenched fist and flexion at the wrist) and flexion of the ipsilateral upper limb at the elbow. This type of seizure is also described as a 'fencer's posture' or a 'figure of 4'. peter owl:Class GO:1904935 biolink:NamedThing positive regulation of cell proliferation in midbrain Any process that activates or increases the frequency, rate or extent of cell proliferation in midbrain. tmpxe7fu0cj_hp_relaxed.owl positive regulation of mesencepahalic cell proliferation|up-regulation of mesencepahalic cell proliferation|up regulation of cell proliferation in midbrain|upregulation of mesencepahalic cell proliferation|activation of mesencepahalic cell proliferation|positive regulation of cell proliferation in mesencephalon|activation of cell proliferation in mesencephalon|up-regulation of cell proliferation in midbrain|upregulation of cell proliferation in mesencephalon|activation of cell proliferation in midbrain|up regulation of cell proliferation in mesencephalon|upregulation of cell proliferation in midbrain|up-regulation of cell proliferation in mesencephalon|up regulation of mesencepahalic cell proliferation bf 2016-02-01T13:16:27Z biological_process owl:Class HP:0001085 biolink:NamedThing Papilledema Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:423341008|SNOMEDCT_US:73221001|SNOMEDCT_US:248487006|MSH:D010211|UMLS:C0030353 The borders of the optic disc are normally clear and well defined upon fundoscopic examination. Papilledema is optic disc swelling that can lead to the blurring of optic margins and elevation of optic disc. HP:0001130 human_phenotype owl:Class HP:0032112 biolink:NamedThing Abnormal Pelli Robson contrast sensitivity chart test An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast. tmpxe7fu0cj_hp_relaxed.owl 2018-11-17 14:25:09+00:00 peter owl:Class GO:1904746 biolink:NamedThing negative regulation of apoptotic process involved in development Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in development. tmpxe7fu0cj_hp_relaxed.owl down regulation of signaling (initiator) caspase activity involved in anatomical structure development|down regulation of apoptotic process involved in anatomical structure development|down regulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of apoptotic process involved in anatomical structure development|negative regulation of apoptotic cell death involved in anatomical structure development|downregulation of apoptotic program involved in development of an anatomical structure|down-regulation of programmed cell death by apoptosis involved in anatomical structure development|down regulation of commitment to apoptosis involved in development of an anatomical structure|down regulation of apoptosis activator activity involved in development of an anatomical structure|down-regulation of induction of apoptosis involved in anatomical structure development|downregulation of induction of apoptosis involved in anatomical structure development|down-regulation of apoptotic cell death involved in development of an anatomical structure|down regulation of commitment to apoptosis involved in anatomical structure development|downregulation of programmed cell death by apoptosis involved in anatomical structure development|downregulation of commitment to apoptosis involved in development of an anatomical structure|down regulation of apoptosis involved in anatomical structure development|downregulation of activation of apoptosis involved in development of an anatomical structure|downregulation of apoptosis signaling involved in development of an anatomical structure|down-regulation of commitment to apoptosis involved in development of an anatomical structure|down-regulation of activation of apoptosis involved in anatomical structure development|negative regulation of apoptosis signaling involved in development of an anatomical structure|downregulation of induction of apoptosis involved in development of an anatomical structure|down regulation of apoptotic program involved in development of an anatomical structure|down regulation of apoptotic program involved in anatomical structure development|downregulation of apoptotic process involved in anatomical structure development|downregulation of activation of apoptosis involved in anatomical structure development|inhibition of activation of apoptosis involved in development of an anatomical structure|negative regulation of type I programmed cell death involved in development of an anatomical structure|down-regulation of type I programmed cell death involved in anatomical structure development|inhibition of induction of apoptosis involved in anatomical structure development|inhibition of programmed cell death by apoptosis involved in anatomical structure development|down-regulation of apoptosis signaling involved in development of an anatomical structure|down regulation of activation of apoptosis involved in development of an anatomical structure|inhibition of signaling (initiator) caspase activity involved in development of an anatomical structure|down-regulation of apoptotic process involved in anatomical structure development|down regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|negative regulation of apoptotic cell death involved in development of an anatomical structure|negative regulation of induction of apoptosis involved in anatomical structure development|down regulation of apoptotic cell death involved in anatomical structure development|negative regulation of apoptosis involved in anatomical structure development|down regulation of apoptosis signaling involved in anatomical structure development|down-regulation of induction of apoptosis involved in development of an anatomical structure|down-regulation of apoptotic programmed cell death involved in anatomical structure development|negative regulation of commitment to apoptosis involved in development of an anatomical structure|negative regulation of apoptotic programmed cell death involved in anatomical structure development|down-regulation of induction of apoptosis by p53 involved in anatomical structure development|inhibition of induction of apoptosis by p53 involved in development of an anatomical structure|down regulation of apoptosis signaling involved in development of an anatomical structure|inhibition of apoptosis activator activity involved in development of an anatomical structure|down-regulation of apoptosis activator activity involved in anatomical structure development|inhibition of signaling (initiator) caspase activity involved in anatomical structure development|downregulation of apoptotic program involved in anatomical structure development|inhibition of commitment to apoptosis involved in development of an anatomical structure|down regulation of apoptotic process involved in development|inhibition of induction of apoptosis by p53 involved in anatomical structure development|negative regulation of induction of apoptosis by p53 involved in development of an anatomical structure|down regulation of type I programmed cell death involved in development of an anatomical structure|negative regulation of commitment to apoptosis involved in anatomical structure development|negative regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|downregulation of apoptosis signaling involved in anatomical structure development|negative regulation of induction of apoptosis involved in development of an anatomical structure|negative regulation of programmed cell death by apoptosis involved in development of an anatomical structure|inhibition of induction of apoptosis involved in development of an anatomical structure|down regulation of apoptotic cell death involved in development of an anatomical structure|downregulation of apoptotic cell death involved in anatomical structure development|negative regulation of type I programmed cell death involved in anatomical structure development|down-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|down-regulation of apoptosis involved in development of an anatomical structure|downregulation of programmed cell death by apoptosis involved in development of an anatomical structure|down-regulation of apoptotic programmed cell death involved in development of an anatomical structure|downregulation of apoptotic process involved in development|inhibition of apoptosis involved in development of an anatomical structure|inhibition of apoptotic programmed cell death involved in anatomical structure development|inhibition of type I programmed cell death involved in development of an anatomical structure|negative regulation of apoptotic process involved in development of an anatomical structure|down regulation of programmed cell death by apoptosis involved in development of an anatomical structure|downregulation of type I programmed cell death involved in anatomical structure development|negative regulation of signaling (initiator) caspase activity involved in anatomical structure development|negative regulation of apoptotic program involved in anatomical structure development|down-regulation of apoptosis involved in anatomical structure development|down-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|down regulation of induction of apoptosis involved in anatomical structure development|inhibition of apoptotic process involved in development|down-regulation of signaling (initiator) caspase activity involved in anatomical structure development|downregulation of apoptosis involved in development of an anatomical structure|down regulation of type I programmed cell death involved in anatomical structure development|down-regulation of apoptotic program involved in development of an anatomical structure|down-regulation of apoptotic process involved in development|negative regulation of apoptosis activator activity involved in anatomical structure development|down-regulation of apoptosis activator activity involved in development of an anatomical structure|downregulation of apoptotic programmed cell death involved in anatomical structure development|inhibition of commitment to apoptosis involved in anatomical structure development|down regulation of apoptosis involved in development of an anatomical structure|downregulation of induction of apoptosis by p53 involved in development of an anatomical structure|downregulation of apoptotic process involved in development of an anatomical structure|downregulation of apoptosis activator activity involved in development of an anatomical structure|downregulation of apoptotic programmed cell death involved in development of an anatomical structure|downregulation of commitment to apoptosis involved in anatomical structure development|down-regulation of apoptosis signaling involved in anatomical structure development|down regulation of induction of apoptosis by p53 involved in anatomical structure development|down regulation of activation of apoptosis involved in anatomical structure development|down-regulation of apoptotic process involved in development of an anatomical structure|downregulation of apoptotic cell death involved in development of an anatomical structure|inhibition of apoptosis involved in anatomical structure development|down regulation of induction of apoptosis by p53 involved in development of an anatomical structure|negative regulation of induction of apoptosis by p53 involved in anatomical structure development|negative regulation of apoptotic programmed cell death involved in development of an anatomical structure|inhibition of apoptotic program involved in anatomical structure development|inhibition of apoptosis signaling involved in anatomical structure development|inhibition of apoptotic cell death involved in development of an anatomical structure|downregulation of induction of apoptosis by p53 involved in anatomical structure development|downregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|downregulation of signaling (initiator) caspase activity involved in anatomical structure development|down-regulation of apoptotic program involved in anatomical structure development|down regulation of apoptotic programmed cell death involved in anatomical structure development|negative regulation of activation of apoptosis involved in anatomical structure development|down-regulation of type I programmed cell death involved in development of an anatomical structure|negative regulation of apoptotic program involved in development of an anatomical structure|inhibition of apoptotic process involved in development of an anatomical structure|negative regulation of programmed cell death by apoptosis involved in anatomical structure development|down regulation of apoptotic programmed cell death involved in development of an anatomical structure|down regulation of induction of apoptosis involved in development of an anatomical structure|inhibition of activation of apoptosis involved in anatomical structure development|negative regulation of apoptosis signaling involved in anatomical structure development|negative regulation of apoptotic process involved in anatomical structure development|negative regulation of apoptosis activator activity involved in development of an anatomical structure|inhibition of apoptotic programmed cell death involved in development of an anatomical structure|down regulation of apoptotic process involved in development of an anatomical structure|downregulation of apoptosis activator activity involved in anatomical structure development|downregulation of apoptosis involved in anatomical structure development|down regulation of apoptosis activator activity involved in anatomical structure development|down-regulation of commitment to apoptosis involved in anatomical structure development|inhibition of programmed cell death by apoptosis involved in development of an anatomical structure|inhibition of apoptosis activator activity involved in anatomical structure development|inhibition of apoptotic cell death involved in anatomical structure development|negative regulation of activation of apoptosis involved in development of an anatomical structure|down-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down-regulation of apoptotic cell death involved in anatomical structure development|inhibition of apoptosis signaling involved in development of an anatomical structure|negative regulation of apoptosis involved in development of an anatomical structure|downregulation of type I programmed cell death involved in development of an anatomical structure|inhibition of type I programmed cell death involved in anatomical structure development|inhibition of apoptotic program involved in development of an anatomical structure|down-regulation of activation of apoptosis involved in development of an anatomical structure U4PR86 in PMID:22801495 inferred from mutant phenotype es 2015-10-19T14:12:27Z biological_process owl:Class HP:0100645 biolink:NamedThing Cystocele Anterior vaginal wall prolapse with bulging of the bladder into the vagina. tmpxe7fu0cj_hp_relaxed.owl Bladder hernia|Bladder prolapse|Prolapsed bladder|Dropped bladder UMLS:C1394494|ICD-9:618.00|SNOMEDCT_US:252005008 Cystocele occurs owing to weakening and stretching of the suppoortive tissue between the bladder and the vaginal wall. doelkens 2010-12-29T06:05:01Z human_phenotype owl:Class HP:0100672 biolink:NamedThing Vaginal hernia The presence of a hernia of the vagina. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1442998|SNOMEDCT_US:397786004 doelkens 2010-12-30T01:35:05Z human_phenotype owl:Class GO:0043233 biolink:NamedThing organelle lumen The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0007807 biolink:NamedThing Optic nerve compression tmpxe7fu0cj_hp_relaxed.owl UMLS:C0271344|SNOMEDCT_US:72983001 HP:0008495 human_phenotype owl:Class HP:0001149 biolink:NamedThing Lattice corneal dystrophy The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea. tmpxe7fu0cj_hp_relaxed.owl Biber haab dimmer dystrophy SNOMEDCT_US:1192004|SNOMEDCT_US:361199007|UMLS:C0155127|MSH:D028227 human_phenotype owl:Class UBERON:0003594 biolink:NamedThing pelvis connective tissue A portion of connective tissue that is part of a pelvis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pelvis portion of connective tissue|textus connectivus of pelvis|portion of connective tissue of pelvis|connective tissue of pelvis|pelvis textus connectivus MA:0000533|EMAPA:37257 uberon owl:Class UBERON:0003838 biolink:NamedThing abdominal segment connective tissue A portion of connective tissue that is part of an abdominal segment of trunk [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl connective tissue of abdominal segment of trunk|portion of connective tissue of abdominal segment of trunk|textus connectivus of abdominal segment of trunk|abdominal segment of trunk portion of connective tissue|abdominal segment of trunk textus connectivus|abdominal segment of trunk connective tissue MA:0000526|EMAPA:37059 uberon owl:Class HP:0200146 biolink:NamedThing Mucoid extracellular matrix accumulation An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.). tmpxe7fu0cj_hp_relaxed.owl Cystic medial necrosis of the aorta|MEMA UMLS:C0392775|MSH:C536230|SNOMEDCT_US:42182000|SNOMEDCT_US:234021009|SNOMEDCT_US:45894003 MEMA replaces a variety of terms used in the past such as cystic medial necrosis, cystonecrosis, cystic degeneration, mucoid degeneration which, while generally understood by pathologists, are inaccurate. This histopathology can be subclassified and graded according to distribution, severity, and/or whether it crosses over multiple lamellar units as described. The grading should be reported as mild/moderate/severe and the distribution should be reported as focal, multifocal, or extensive. sebastiankohler 2013-06-13T12:55:22Z human_phenotype owl:Class GO:0034754 biolink:NamedThing cellular hormone metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0000033 biolink:NamedThing Ambiguous genitalia, male Ambiguous genitalia in an individual with XY genetic gender. tmpxe7fu0cj_hp_relaxed.owl Ambiguous genitalia in males UMLS:C4021823 human_phenotype owl:Class HP:0031466 biolink:NamedThing Impairment in personality functioning A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 16:30:45+00:00 The emergence of the self in childhood and adolescence is based on experience and perception, which then becomes organized into identity, which organizes further experience and perception. Identity is related to the individual's selfsameness and continuity in time. peter owl:Class HP:0034034 biolink:NamedThing Differential cyanosis Differential degree of bluish discoloration between the upper and lower extremities. tmpxe7fu0cj_hp_relaxed.owl 2021-09-24 13:37:44+00:00 peter owl:Class HP:0000961 biolink:NamedThing Cyanosis Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. tmpxe7fu0cj_hp_relaxed.owl Blue discoloration of the skin SNOMEDCT_US:3415004|UMLS:C0010520|MSH:D003490|SNOMEDCT_US:119419001 owl:Class HP:0410021 biolink:NamedThing Musty odor Pungent body odor. tmpxe7fu0cj_hp_relaxed.owl Musty odour|Musty odor owl:Class HP:0012642 biolink:NamedThing Cerebellar agenesis Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022808 Usually, small remnants of the cerebellum are present; therefore the term subtotal cerebellar agenesis is also used in the literature. A secondary pontine hypoplasia is typically seen. The definition of cerebellar agenesis is based on the morphologic pattern and does not suggest the pathogenesis. Cerebellar agenesis may represent a malformation (e.g., mutations in PTF1A) or a disruption (e.g., hemorrhage that occurs during gestation or in the perinatal period, vascular insufficiency in Chiari II malformation and cerebellar herniation, and as a sequela of prematurity). peter 2014-01-22T08:14:57Z owl:Class GO:0032365 biolink:NamedThing intracellular lipid transport The directed movement of lipids within cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0002895 biolink:NamedThing Papillary thyroid carcinoma The presence of a papillary adenocarcinoma of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Papillary carcinoma of thyroid|Thyroid papillary carcinoma UMLS:C0238463|SNOMEDCT_US:255029007|MSH:C536915|NCIT:C2853 human_phenotype owl:Class HP:0033201 biolink:NamedThing Biceps hyporeflexia Reduced intensity of the biceps tendon reflex. tmpxe7fu0cj_hp_relaxed.owl Hyporeflexia of biceps 2020-10-11 14:24:43+00:00 peter owl:Class GO:0042592 biolink:NamedThing homeostatic process Any biological process involved in the maintenance of an internal steady state. tmpxe7fu0cj_hp_relaxed.owl homeostasis|activation of homeostatic process|negative regulation of homeostatic process|regulation of homeostatic process|positive regulation of homeostatic process|inhibition of homeostatic process GO:0032844|GO:0032845|GO:0032846 biological_process owl:Class UBERON:0013147 biolink:NamedThing early mesencephalic vesicle tmpxe7fu0cj_hp_relaxed.owl mesencephalic vesicle EHDAA2:0001102 gives rise to midbrain vesicle which gives rise to cerebral aqueduct uberon owl:Class UBERON:0013150 biolink:NamedThing future brain vesicle tmpxe7fu0cj_hp_relaxed.owl primitive brain vesicle|early brain vesicle|secondary brain vesicle|primary brain vesicle|brain vesicle NCIT:C34259 consider adding all secondary vesicles (e.g. diencephalic; my/metencephalic. See http://www.dartmouth.edu/~rswenson/NeuroSci/chapter_4.html). uberon owl:Class Note that some sources may treat the term vesicle as the progenitor of the whole brain region; for example 'The retina develops directly from the neural tube as an outpouching from the diencephalic vesicle' UBERON:0005089 biolink:NamedThing sweat gland placode An sweat gland placode is a thickening of the ectoderm that will give rise to the sweat gland bud[GO]. tmpxe7fu0cj_hp_relaxed.owl TODO - add bud uberon owl:Class HP:0009058 biolink:NamedThing Increased muscle lipid content An abnormal accumulation of lipids in skeletal muscle. tmpxe7fu0cj_hp_relaxed.owl Lipid accumulation in skeletal muscle|Muscle lipidosis|Fat accumulation in muscle fibres|Fat deposits in muscle fibres|Skeletal muscle lipid accumulation|Fat deposits in muscle fibers|Increased muscle lipid content|Fat accumulation in muscle fibers UMLS:C1837262 Increased neutral lipid content may be observed on muscle biopsies specimen with the specific staining of Sudan black or oil red O techniques by optic microscopy. HP:0100949 human_phenotype owl:Class UBERON:0003116 biolink:NamedThing pharyngeal arch 5 tmpxe7fu0cj_hp_relaxed.owl third branchial arch|gill arch 3|branchial arch 3|5th visceral arch|fifth pharyngeal arch|5th pharyngeal arch|fifth visceral arch|visceral arch 5 ZFA:0001608|VHOG:0001204|AAO:0010367|XAO:0000451|TAO:0001600|FMA:293045 uberon owl:Class The third in a series of paired bars in the wall of the pharynx, within which are formed the third aortic arch and the cartilage bar of the visceral skeleton, forms and supports the gills.[AAO] A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] A fifth arch never establishes itself in amniotes in XAO, called branchial arch 3 and df VP5 5 HP:0011819 biolink:NamedThing Submucous cleft soft palate A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. tmpxe7fu0cj_hp_relaxed.owl Submucous cleft velum|Partial thickness cleft soft palate UMLS:C4023175 Often, submucous cleft palate is associated with bifid uvula, but this should be coded separately. The muscles of the soft palate may not function properly, leading to speech problems, middle ear disease, and swallowing difficulties. peter 2012-04-29T09:49:02Z human_phenotype owl:Class CHEBI:50338 biolink:NamedThing 1H-imidazol-4-ylmethyl group tmpxe7fu0cj_hp_relaxed.owl histidine side-chain|1H-imidazol-4-ylmethyl 0 C4H5N2 81.09598 81.04527 *CC=1N=CNC1 chebi_ontology owl:Class HP:0004047 biolink:NamedThing Wide ulnar metaphysis Increase in width (breadth) of the ulnar metaphysis. tmpxe7fu0cj_hp_relaxed.owl Broad ulnar metaphysis UMLS:C4021687 human_phenotype owl:Class HP:0010977 biolink:NamedThing Abnormal phagocytosis An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023617 peter 2011-02-06T10:31:46Z human_phenotype owl:Class HP:0004952 biolink:NamedThing Pulmonary arteriovenous fistulas A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:111289009|UMLS:C0155675|MSH:C562404 human_phenotype owl:Class HP:0008839 biolink:NamedThing Hypoplastic pelvis Underdevelopment of the bony pelvis. tmpxe7fu0cj_hp_relaxed.owl Small pelvis|Hypoplastic pelvic bones UMLS:C3536734 HP:0003373|HP:0008816 human_phenotype owl:Class HP:0009581 biolink:NamedThing Broad proximal phalanx of the 2nd finger Increased width of the proximal phalanx of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Wide/broad proximal index finger phalanx|Wide innermost bone of index finger UMLS:C4021434 doelkens 2009-01-28T05:26:39Z HP:0004126 human_phenotype owl:Class UBERON:0004773 biolink:NamedThing superior eyelid tarsus An eyelid tarsus that is part of a upper eyelid [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl superior tarsus of eyelid|tarsal plate of upper eyelid|tarsus of upper eyelid|superior tarsal plate|tarsus superior|superior tarsus MA:0001260|FMA:59087|EMAPA:37607 uberon owl:Class HP:0033032 biolink:NamedThing Triggered by an abusive adult Applies to a sign or symptom that is induced by an abusive adult (usually a parent). tmpxe7fu0cj_hp_relaxed.owl Munchausen syndrome by proxy Munchausen syndrome by proxy is not a pediatric condition, but the outward manifestation of an adult psychiatric disorder. peter owl:Class UBERON:0005491 biolink:NamedThing glossopharyngeal neural crest Cranial neural crest which gives rise to the glossopharyngeal ganglion. tmpxe7fu0cj_hp_relaxed.owl TAO:0007066|ZFA:0007066|EHDAA2:0000714|EHDAA:660 uberon owl:Class CL:0002264 biolink:NamedThing type A cell of stomach A type of enteroendocrine cell found in the stomach that secretes glucagon. tmpxe7fu0cj_hp_relaxed.owl FMA:83411 tmeehan 2010-09-10T10:54:42Z cell owl:Class HP:0032075 biolink:NamedThing Splenopancreatic fusion Fusion of the pancreatic tail and spleen. tmpxe7fu0cj_hp_relaxed.owl 2018-10-13 12:42:41+00:00 peter owl:Class CHEBI:17755 biolink:NamedThing cystathionine A modified amino acid generated by enzymic means from homocysteine and serine. tmpxe7fu0cj_hp_relaxed.owl cystathione|S-(2-amino-2-carboxyethyl)homocysteine|Cystathionine|DL-Cystathionine|2-amino-4-[(2-amino-2-carboxyethyl)sulfanyl]butanoic acid 0 C7H14N2O4S InChI=1S/C7H14N2O4S/c8-4(6(10)11)1-2-14-3-5(9)7(12)13/h4-5H,1-3,8-9H2,(H,10,11)(H,12,13) ILRYLPWNYFXEMH-UHFFFAOYSA-N 222.26314 222.06743 NC(CCSCC(N)C(O)=O)C(O)=O KEGG:C00542|CAS:535-34-2|PMID:22212096|Reaxys:2416815|PMID:15033753|PMID:22264337|PMID:12907234 CHEBI:4048|CHEBI:14059 chebi_ontology owl:Class CHEBI:16385 biolink:NamedThing organic sulfide Compounds having the structure RSR (R =/= H). Such compounds were once called thioethers. tmpxe7fu0cj_hp_relaxed.owl RSR|Sulfide|organic sulfides|Thioether|thioethers|sulfides 0 SR2 32.066 31.97207 KEGG:C00297 CHEBI:26960|CHEBI:9340|CHEBI:13694 chebi_ontology owl:Class GO:2001055 biolink:NamedThing positive regulation of mesenchymal cell apoptotic process Any process that activates or increases the frequency, rate or extent of mesenchymal cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of mesenchymal cell apoptosis yaf 2011-09-08T02:50:09Z biological_process owl:Class GO:0106215 biolink:NamedThing negative regulation of vesicle fusion with Golgi apparatus Any process that stops, prevents or reduces the frequency, rate or extent of vesicle fustion with Golgi apparatus. tmpxe7fu0cj_hp_relaxed.owl hjd 2019-06-27T15:17:17Z biological_process owl:Class GO:0010927 biolink:NamedThing cellular component assembly involved in morphogenesis The cellular component assembly that is part of the initial shaping of the component during its developmental progression. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0003487 biolink:NamedThing Babinski sign Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. tmpxe7fu0cj_hp_relaxed.owl Positive Babinski sign|Extensor plantar response|Extensor plantar reflexes|Extensor plantar responses UMLS:C0034935|SNOMEDCT_US:366575004|SNOMEDCT_US:246586009 A positive Babinski sign can indicate damage to the corticospinal tract. HP:0001352 human_phenotype owl:Class HP:0031828 biolink:NamedThing Abnormal superficial reflex An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons. tmpxe7fu0cj_hp_relaxed.owl 2018-05-02 01:09:04+00:00 peter owl:Class PATO:0002462 biolink:NamedThing collagenous A composition quality inhering in an bearer by virtue of the bearer's consisting of collagen. tmpxe7fu0cj_hp_relaxed.owl 2013-09-15T11:34:15Z quality owl:Class HP:0031702 biolink:NamedThing Anterior chamber red blood cells The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye. tmpxe7fu0cj_hp_relaxed.owl Anterior chamber RBCs 2017-12-18 00:15:42+00:00 The terms for anterior chamber cells can be used to select the grade (total number of cells) and then Anterior chamber red blood cells or inflammatory cells can be chosen to specificy whether one or both cells are present. In some scenarios, both cell types may be observed, e.g., followiong trauma. peter owl:Class GO:0048812 biolink:NamedThing neuron projection morphogenesis The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites. tmpxe7fu0cj_hp_relaxed.owl neurite biosynthesis|neurite growth|neurite morphogenesis|neurite formation biological_process owl:Class HP:0040308 biolink:NamedThing Male anorgasmia Inability of a male to reach orgasm. tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0003610 biolink:NamedThing heart elastic tissue The type of heart connective tissue found in the endocardial layer that consists mainly of elastic fibers. tmpxe7fu0cj_hp_relaxed.owl textus connectivus elasticus of heart|heart textus connectivus elasticus|heart elastic connective tissue|cardiac elastic tissue|elastic tissue of heart|elastic connective tissue of heart MA:0002858 uberon owl:Class HP:0010170 biolink:NamedThing Small epiphyses of the toes tmpxe7fu0cj_hp_relaxed.owl Small end part of the toe bones UMLS:C4023989 doelkens 2009-05-29T01:34:06Z human_phenotype owl:Class UBERON:5003634 biolink:NamedThing pedal digit 4 plus metapodial segment A subdivision of the autopod consisting of pedal digit 4 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl pedal digit IV plus metapodial segment|pedal digit 4 digitopodial subdivision|pedal digit 4|pedal digit 4 ray|pedal digit 4 ( phalanges plus metapodial) plus soft tissue this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class HP:0010121 biolink:NamedThing Small epiphyses of the hallux tmpxe7fu0cj_hp_relaxed.owl Small end part of the big toe bone UMLS:C4024038 doelkens 2009-05-29T01:16:38Z owl:Class HP:0008519 biolink:NamedThing Abnormal coccyx morphology Any structural abnormality of the coccyx. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the coccyx|Abnormal tailbone UMLS:C4024658 peter 2008-04-04T02:41:00Z HP:0002830 owl:Class HP:0000269 biolink:NamedThing Prominent occiput Increased convexity of the occiput (posterior part of the skull). tmpxe7fu0cj_hp_relaxed.owl Prominent posterior cranium|Prominent back of the skull|Protruding back of the head|Prominent posterior head|Protruding occiput|Prominent back of the head|Prominent posterior skull UMLS:C1853737|UMLS:C4280652 Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately. HP:0004489 human_phenotype owl:Class HP:0012891 biolink:NamedThing High posterior hairline Hair on the neck extends less inferiorly than usual. tmpxe7fu0cj_hp_relaxed.owl High hairline at back of head UMLS:C4022692 peter 2014-06-23T10:57:10Z owl:Class HP:0030141 biolink:NamedThing Abnormality of the posterior hairline An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair. tmpxe7fu0cj_hp_relaxed.owl Abnormality of hairline at back of head UMLS:C4022607 owl:Class GO:1901552 biolink:NamedThing positive regulation of endothelial cell development Any process that activates or increases the frequency, rate or extent of endothelial cell development. tmpxe7fu0cj_hp_relaxed.owl activation of endothelial cell development|up regulation of endothelial cell development|upregulation of endothelial cell development|up-regulation of endothelial cell development pr 2012-10-30T12:59:58Z biological_process owl:Class HP:0006937 biolink:NamedThing Impaired distal tactile sensation A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. tmpxe7fu0cj_hp_relaxed.owl Decreased distal touch sense|Decreased touch sensation in extremities UMLS:C4021583 HP:0006981 human_phenotype owl:Class HP:0010830 biolink:NamedThing Impaired tactile sensation A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. tmpxe7fu0cj_hp_relaxed.owl Abnormal thigmesthesia|Loss of tactile sensation|Impaired touch sensation UMLS:C4021221 peter 2010-07-10T07:09:54Z owl:Class HP:0100419 biolink:NamedThing Partial duplication of the middle phalanx of the 3rd toe Partial duplication of middle phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the middle phalanx of the third toe|Partial duplication of the middle bone of 3rd toe UMLS:C4020980 human_phenotype owl:Class HP:0100401 biolink:NamedThing Duplication of the middle phalanx of the 3rd toe Partial or complete duplication of middle phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Duplication of the middle phalanx of the third toe|Partial/complete duplication of the middle phalanx of the 3rd toe|Duplication of the middle bone of the 3rd toe UMLS:C4020996 human_phenotype owl:Class GO:1901550 biolink:NamedThing regulation of endothelial cell development Any process that modulates the frequency, rate or extent of endothelial cell development. tmpxe7fu0cj_hp_relaxed.owl pr 2012-10-30T12:59:50Z biological_process owl:Class UBERON:0006833 biolink:NamedThing lumen of trachea An anatomical space that surrounded_by a trachea. tmpxe7fu0cj_hp_relaxed.owl tracheal lumen|lumen of cartilaginous trachea FMA:7469 uberon owl:Class CHEBI:37397 biolink:NamedThing chondroitin sulfate Any of a class of 10--60 kDa glycosaminoglycan sulfates, widely distributed in cartilage and other mammalian connective tissues. tmpxe7fu0cj_hp_relaxed.owl chondroitin sulfuric acid|chondroitin polysulfate|chondroitin sulfates|Chondroitin sulfate|chondroitin sulphate|Chondroitinsulfat KEGG:C00607|PMID:11514091|CAS:9007-28-7|PMID:7538297 CHEBI:3676|CHEBI:23224 chebi_ontology owl:Class HP:0009219 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 4th finger Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the middle bone of the ring finger UMLS:C4024522 doelkens 2009-01-05T05:23:59Z human_phenotype owl:Class HP:0500053 biolink:NamedThing Retinopathy of prematurity stage 4 Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment. tmpxe7fu0cj_hp_relaxed.owl ROP stage 4 2018-02-19 18:51:13+00:00 Stage 4 can occur after treatment (unlike stages 1-3) and may be accelerated by the absence of vascular endothelial growth factor posttreatment leading to an accelerated cicatricial phase. ORCID:0000-0001-7941-2961 owl:Class CHEBI:37142 biolink:NamedThing organoiodine compound An organoiodine compound is a compound containing at least one carbon-iodine bond. tmpxe7fu0cj_hp_relaxed.owl organoiodine compound|organoiodine compounds 0 IR 126.904 126.90447 *I MetaCyc:Organoiodine-Compounds|Wikipedia:Organoiodine_compound chebi_ontology owl:Class CHEBI:29888 biolink:NamedThing diphosphoric acid An acyclic phosphorus acid anhydride obtained by condensation of two molecules of phosphoric acid. tmpxe7fu0cj_hp_relaxed.owl diphosphoric acid|1,5-dihydrido-2,4-dihydroxido-2,4-dioxido-1,3,5-trioxy-2,4-diphosphy-[5]catena|Diphosphorsaeure|mu-oxido-bis(dihydroxidooxidophosphorus)|[(HO)2P(O)OP(O)(OH)2]|Pyrophosphoric acid|H4P2O7|Pyrophosphate|PYROPHOSPHATE|Diphosphoric acid|acide diphosphorique|Pyrophosphorsaeure 0 H4O7P2 InChI=1S/H4O7P2/c1-8(2,3)7-9(4,5)6/h(H2,1,2,3)(H2,4,5,6) XPPKVPWEQAFLFU-UHFFFAOYSA-N 177.97508 177.94323 OP(O)(=O)OP(O)(O)=O Reaxys:3942075|PDBeChem:PPV|CAS:2466-09-3|DrugBank:DB04160|KEGG:C00013|PMID:6291941|KNApSAcK:C00019561|Gmelin:82619|ECMDB:ECMDB04142 CHEBI:8683|CHEBI:45067 chebi_ontology owl:Class CHEBI:33457 biolink:NamedThing phosphorus oxoacid A pnictogen oxoacid which contains phosphorus and oxygen, at least one hydrogen atom bound to oxygen, and forms an ion by the loss of one or more protons. tmpxe7fu0cj_hp_relaxed.owl Oxosaeure des Phosphors|phosphorus oxoacids|oxoacids of phosphorus|phosphorus oxoacid chebi_ontology owl:Class PATO:0001457 biolink:NamedThing sensitivity of a process A quality of a process inhering in bearer by virtue of the bearer's disposition to respond to stimulation. tmpxe7fu0cj_hp_relaxed.owl sensitivity of occurrent quality owl:Class PATO:0001447 biolink:NamedThing calcified A composition quality inhering in an bearer by virtue of the bearer's being encrusted or impregnated with calcium carbonate (CHEBI:3311). tmpxe7fu0cj_hp_relaxed.owl calcification|calcareous quality owl:Class HP:0032775 biolink:NamedThing Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032766 biolink:NamedThing Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032137 biolink:NamedThing Decreased circulating IgG3 level A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased IgG3 level in blood 2018-11-22 14:29:27+00:00 peter owl:Class GO:2000283 biolink:NamedThing negative regulation of cellular amino acid biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of cellular amino acid biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of cellular amino acid formation|negative regulation of cellular amino acid anabolism|negative regulation of cellular amino acid biosynthesis|negative regulation of amino acid biosynthetic process|negative regulation of cellular amino acid synthesis vw 2010-12-10T11:54:23Z biological_process owl:Class HP:0031124 biolink:NamedThing Decreased platelet thromboxane A2 receptor Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2). tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 12:30:08+00:00 peter owl:Class UBERON:0004345 biolink:NamedThing trophectoderm Outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition. tmpxe7fu0cj_hp_relaxed.owl VHOG:0000979|EHDAA2:0002091|EHDAA:56|BTO:0001840|EMAPA:16046 distinction between trophectoderm and trophoblast unclear/inconsistent in many sources uberon owl:Class The outer cellular layer of the mammalian blastocyst. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Vertebrates:_Comparative_Anatomy, p.750, see_Kardong_KV][VHOG] (...) the trophoblast develops rapidly so that contact may be made with the maternal uterine tissues when conditions are appropriate. We have here an excellent example of an embryonic adaptation, the development of a structure never present in either adult or embryo of 'lower' vertebrates.[well established][VHOG] trophectodermal BTO has this has part of the trophoblast HP:0007936 biolink:NamedThing Restrictive external ophthalmoplegia Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. tmpxe7fu0cj_hp_relaxed.owl Restrictive external ophthalmoplegia, bilateral|Restrictive ophthalmoplegia UMLS:C4020806|UMLS:C1865918 HP:0008025|HP:0007959|HP:0007846 human_phenotype owl:Class HP:0500273 biolink:NamedThing Increased proportion of immature gamma-delta T cells Increased proportion of immature gamma-delta T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Increased proportion of immature gamma-delat T lymphocytes|Increased proportion of immature gamma-delta T-lymphocytes|Elevated proportion of immature gamma-delta T cells|Increased proportion of immature gamma-delta T-cells 2020-05-19 15:39:31+00:00 owl:Class HP:0500270 biolink:NamedThing Increased proportion of gamma-delta T cells Increased proportion of gamma-delta T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Elevated proportion of gamma-delta T cells|Increased proportion of gamma-delta T lymphocytes|Increased proportion of gamma-delta T-lymphocytes|Increased proportion of gamma-delta T-cells|Increased proportion of gammadelta T cells 2020-05-19 15:10:25+00:00 owl:Class GO:0004095 biolink:NamedThing carnitine O-palmitoyltransferase activity Catalysis of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. tmpxe7fu0cj_hp_relaxed.owl CPTo|CPT-B|carnitine palmitoyltransferase II|CPT I (outer membrane carnitine palmitoyl transferase)|CPT-A|carnitine palmitoyltransferase I|acylcarnitine transferase activity|CPT|outer malonyl-CoA inhibitable carnitine palmitoyltransferase activity|carnitine palmitoyltransferase activity|palmitoylcarnitine transferase activity|CPTi|L-carnitine palmitoyltransferase activity|carnitine palmitoyltransferase-A|palmitoyl-CoA:L-carnitine O-palmitoyltransferase activity EC:2.3.1.21|Reactome:R-HSA-200406|Reactome:R-HSA-200410|RHEA:12661|MetaCyc:CARNITINE-O-PALMITOYLTRANSFERASE-RXN molecular_function owl:Class GO:0016406 biolink:NamedThing carnitine O-acyltransferase activity Catalysis of the transfer of an acyl group to an oxygen atom on the carnitine molecule. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class HP:0010285 biolink:NamedThing Oral synechia Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges. tmpxe7fu0cj_hp_relaxed.owl Oral fibrous bands|Synechiae of the mouth UMLS:C4023921 These bands must be distinguished from synechiaee between the tongue and palate (glossopalatal ankylosis) and from synechiae arising from the floor of the mouth (as in the subglossopalatal membrane), oropharyngeal isthmus (as in persistent buccopharyngeal membrane) or from the lower lip. If there is a complete soft tissue contiguity between the upper and lower alveolar ridges, the term, Fibrous syngnathia should be used instead. peter 2009-07-12T10:37:03Z human_phenotype owl:Class CL:0001012 biolink:NamedThing CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor tmpxe7fu0cj_hp_relaxed.owl Originally described in the dendritic cell ontology (DC_CL:1110000)(PMID:19243617). cell owl:Class HP:0000657 biolink:NamedThing Oculomotor apraxia Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. tmpxe7fu0cj_hp_relaxed.owl Defective or absent horizontal voluntary eye movements|Ocular motor apraxia UMLS:C3489733|SNOMEDCT_US:193662007|UMLS:C4020886|MSH:C537423 Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements. HP:0007764|HP:0000628 owl:Class HP:0005134 biolink:NamedThing Absence of the pulmonary valve Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries. tmpxe7fu0cj_hp_relaxed.owl Absent pulmonary valve UMLS:C0265831|SNOMEDCT_US:6996004 The distinctive feature of APVS is the airway obstruction caused by tracheobronchial compression that results from massive dilatation of the main pulmonary artery (PA) and its first- and second-order branches. Consequential tracheomalacia and bronchomalacia determine the timing and severity of respiratory compromise, as well as the morbidity and mortality of these patients. HP:0005131 human_phenotype owl:Class GO:0045986 biolink:NamedThing negative regulation of smooth muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of smooth muscle contraction. tmpxe7fu0cj_hp_relaxed.owl down-regulation of smooth muscle contraction|down regulation of smooth muscle contraction|downregulation of smooth muscle contraction|smooth muscle relaxation|inhibition of smooth muscle contraction biological_process owl:Class HP:0011573 biolink:NamedThing Hypoplastic tricuspid valve Congenital defect characterized by underdevelopment of the tricuspid valve. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped tricuspid valve|Tricuspid valve hypoplasia UMLS:C4023294|Fyler:1720 peter 2012-04-08T10:22:38Z human_phenotype owl:Class HP:0012413 biolink:NamedThing Notched primary central incisor The presence of a V-shaped indentation (notch) in the primary central incisor. tmpxe7fu0cj_hp_relaxed.owl Notched front deciduous tooth|Notched front baby tooth|Syphilitic primary incisor|Notched front primary tooth SNOMEDCT_US:410500004|UMLS:C0020186|UMLS:C1444627|SNOMEDCT_US:86443005|MSH:D013590|UMLS:C4022912 peter 2013-11-10T12:07:34Z owl:Class HP:0006236 biolink:NamedThing Slender metacarpals Decreased width of the metacarpal bones (that is, reduced diameter). tmpxe7fu0cj_hp_relaxed.owl Slender long bones of hand UMLS:C4025077 human_phenotype owl:Class HP:0011565 biolink:NamedThing Common atrium Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. tmpxe7fu0cj_hp_relaxed.owl Single atrium UMLS:C0392482|ICD-10:Q21.2|Fyler:1140|SNOMEDCT_US:253276007 peter 2012-04-08T07:50:05Z human_phenotype owl:Class GO:1904650 biolink:NamedThing negative regulation of fat cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of fat cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl down regulation of adipocyte apoptosis|inhibition of fat cell apoptosis|downregulation of adipose cell apoptotic process|down regulation of adipose cell apoptosis|inhibition of adipocyte apoptosis|down-regulation of fat cell apoptotic process|negative regulation of adipocyte apoptosis|down regulation of adipocyte apoptotic process|down regulation of fat cell apoptotic process|down regulation of adipose cell apoptotic process|downregulation of fat cell apoptotic process|down regulation of fat cell apoptosis|inhibition of adipocyte apoptotic process|down-regulation of adipocyte apoptotic process|negative regulation of adipose cell apoptosis|down-regulation of adipose cell apoptotic process|down-regulation of fat cell apoptosis|inhibition of adipose cell apoptotic process|negative regulation of adipocyte apoptotic process|downregulation of fat cell apoptosis|inhibition of adipose cell apoptosis|downregulation of adipocyte apoptotic process|down-regulation of adipocyte apoptosis|downregulation of adipocyte apoptosis|down-regulation of adipose cell apoptosis|negative regulation of adipose cell apoptotic process|negative regulation of fat cell apoptosis|downregulation of adipose cell apoptosis|inhibition of fat cell apoptotic process sl 2015-08-31T20:59:34Z biological_process owl:Class HP:0030668 biolink:NamedThing Periorbital dermoid cyst A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073119 A periorbital dermoid cyst may present as a subcutaneous mass at the lateral aspect of an eyelid. owl:Class HP:0001144 biolink:NamedThing Orbital cyst Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium). tmpxe7fu0cj_hp_relaxed.owl Cyst of eye socket|Orbital cysts SNOMEDCT_US:31021007|UMLS:C0155285 human_phenotype owl:Class CHEBI:59238 biolink:NamedThing cyclic fatty acid Any fatty acid containing anywhere in its structure a ring of atoms. tmpxe7fu0cj_hp_relaxed.owl zyklische Fettsaeuren|acides gras cycliques|acidos grasos ciclicos|cyclic fatty acids PMID:9300789|PMID:17113094 chebi_ontology owl:Class UBERON:0008810 biolink:NamedThing nasopalatine nerve A branch of that maxillary nerve that innervates the mucous membrane of the hard palate. tmpxe7fu0cj_hp_relaxed.owl Scarpa's nerve|naso-palatine nerve|nervus nasopalatinus|nasopalatine|nasopalatine nerves BAMS:npal|FMA:52797 http://upload.wikimedia.org/wikipedia/commons/d/d1/Gray858.png uberon owl:Class HP:0005938 biolink:NamedThing Abnormal respiratory motile cilium morphology Abnormal arrangement of the structures of the motile cilium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025100 human_phenotype owl:Class HP:0005603 biolink:NamedThing Numerous congenital melanocytic nevi tmpxe7fu0cj_hp_relaxed.owl UMLS:C3806415 human_phenotype owl:Class HP:0011619 biolink:NamedThing Pulmonary situs ambiguus with bilateral morphologic left lungs An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023267 peter 2012-04-08T09:26:18Z human_phenotype owl:Class HP:0011617 biolink:NamedThing Pulmonary situs ambiguus An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023269 peter 2012-04-08T09:24:21Z human_phenotype owl:Class HP:4000052 biolink:NamedThing Avulsion fracture A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 20:56:24+00:00 robinp owl:Class GO:0010760 biolink:NamedThing negative regulation of macrophage chemotaxis Any process that decreases the rate, frequency or extent of macrophage chemotaxis. Macrophage chemotaxis is the movement of a macrophage in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0002803 biolink:NamedThing right parietal lobe Parietal lobe of the right hemisphere of the brain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1281959|FMA:72973|BIRNLEX:1729 uberon owl:Class HP:0008498 biolink:NamedThing No permanent dentition tmpxe7fu0cj_hp_relaxed.owl No adult dentition|No secondary dentition|Absence of adult teeth|Missing adult teeth|Absence of secondary dentition UMLS:C4024666 human_phenotype owl:Class UBERON:0006609 biolink:NamedThing corpus cavernosum tmpxe7fu0cj_hp_relaxed.owl FMA:321004|BTO:0005454 uberon owl:Class UBERON:0001005 biolink:NamedThing respiratory airway An airway through which respiratory air passes in organisms. tmpxe7fu0cj_hp_relaxed.owl airways|airway SCTID:361380005|FMA:265130|Wikipedia:Trachea This class generically groups trachea and analagous structures throughout metazoa. Consider renaming, as the term could be taken to mean lumen of tracheal system (e.g. in SNOMED). As a grouping class this is quite vague, as it is not clear where the airway begins and ends uberon owl:Class HP:0033420 biolink:NamedThing Pulmonary arterial plexiform lesion Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 17:27:11+00:00 peter owl:Class UBERON:0003580 biolink:NamedThing lower respiratory tract connective tissue A portion of connective tissue that is part of a lower respiratory tract [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl connective tissue of lower respiratory tract|textus connectivus of lower respiratory tract|lower respiratory tract textus connectivus|portion of connective tissue of lower respiratory tract|lower respiratory tract portion of connective tissue MA:0002409|EMAPA:37548 uberon owl:Class GO:0051447 biolink:NamedThing negative regulation of meiotic cell cycle tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0004476 biolink:NamedThing Aplasia cutis congenita over parietal area A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area. tmpxe7fu0cj_hp_relaxed.owl Absent cutis congenita over parietal area UMLS:C1863492 human_phenotype owl:Class HP:0007385 biolink:NamedThing Aplasia cutis congenita of scalp A developmental defect resulting in the congenital absence of skin on the scalp. tmpxe7fu0cj_hp_relaxed.owl Scalp aplasia cutis congenita|Defect of scalp|Solitary scalp defect|Focal absence of scalp tissue|Scalp defect UMLS:C4072858|UMLS:C4072857|UMLS:C1855698|UMLS:C4048801 HP:0000994|HP:0007568 human_phenotype owl:Class CHEBI:83811 biolink:NamedThing proteinogenic amino acid derivative Any derivative of a proteinogenic amino acid resulting from reaction at an amino group, carboxy group, or a side-chain functional group, or from the replacement of any hydrogen by a heteroatom. tmpxe7fu0cj_hp_relaxed.owl canonical amino-acid derivatives|proteinogenic amino acid derivatives|canonical amino acid derivative|canonical amino-acid derivative|proteinogenic amino-acid derivatives|canonical amino acid derivatives|proteinogenic amino-acid derivative chebi_ontology owl:Class HP:0009457 biolink:NamedThing Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl Absent/small innermost bone of middle finger|Absent/underdeveloped innermost bone of middle finger UMLS:C4024348 doelkens 2009-01-14T04:34:45Z human_phenotype owl:Class GO:0033500 biolink:NamedThing carbohydrate homeostasis A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010599 biolink:NamedThing Abnormality of the distal humeral epiphysis Any abnormality of the distal epiphysis of the humerus. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the outermost long bone in upper arm UMLS:C4023774 sandra1 2009-10-22T06:40:29Z human_phenotype owl:Class GO:0140244 biolink:NamedThing regulation of translation at presynapse Any process that regulates translation occurring at the presynapse. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/synapse/issues/210 Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua. pg 2018-07-15T09:38:33Z biological_process owl:Class HP:0006476 biolink:NamedThing Abnormality of the pancreatic islet cells An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025043 peter 2008-03-28T04:41:00Z HP:0100567 human_phenotype owl:Class HP:0500145 biolink:NamedThing Hypohistidinemia A decreased amount of histidine in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood histidine levels|Decreased blood histidine concentration 2018-10-04 13:28:34+00:00 owl:Class HP:5000045 biolink:NamedThing Anti-MuSK antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against muscle-specific tyrosine kinase (MuSK). tmpxe7fu0cj_hp_relaxed.owl Anti-anti-muscle-specific tyrosine kinase antibody ORCID:0000-0002-3387-1836 owl:Class HP:0006934 biolink:NamedThing Congenital nystagmus Nystagmus dating from or present at birth. tmpxe7fu0cj_hp_relaxed.owl Nystagmus, congenital UMLS:C0700501|MSH:D020417|SNOMEDCT_US:64635004 human_phenotype owl:Class HP:0001216 biolink:NamedThing Delayed ossification of carpal bones Ossification of carpal bones occurs later than age-adjusted norms. tmpxe7fu0cj_hp_relaxed.owl Delayed carpal bone age|Delayed maturation of carpal bones|Delayed maturation of wrist bone|Delayed carpal ossification|Carpal delayed ossification UMLS:C4280599|UMLS:C1841684 human_phenotype owl:Class HP:0012147 biolink:NamedThing Reduced quantity of Von Willebrand factor Decreased quantity of von Willebrand factor. tmpxe7fu0cj_hp_relaxed.owl Decreased von Willebrand factor UMLS:C4023022|UMLS:C1841816 peter 2012-09-16T08:27:00Z human_phenotype owl:Class GO:0033605 biolink:NamedThing positive regulation of catecholamine secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a catecholamine. tmpxe7fu0cj_hp_relaxed.owl up-regulation of catecholamine secretion|activation of catecholamine secretion|up regulation of catecholamine secretion|stimulation of catecholamine secretion|upregulation of catecholamine secretion biological_process owl:Class HP:0030579 biolink:NamedThing Pinhole visual acuity 1.1 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073052 owl:Class GO:1905484 biolink:NamedThing negative regulation of motor neuron migration Any process that stops, prevents or reduces the frequency, rate or extent of motor neuron migration. tmpxe7fu0cj_hp_relaxed.owl down regulation of motor neuron migration|inhibition of motor neuron migration|downregulation of motor neuron migration|down-regulation of motor neuron migration hbye 2016-09-23T12:50:11Z biological_process owl:Class GO:0009713 biolink:NamedThing catechol-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of catechol-containing compounds. Catechol is a compound containing a pyrocatechol nucleus or substituent. tmpxe7fu0cj_hp_relaxed.owl catechol biosynthesis|catechol biosynthetic process|catechol formation|catechol anabolism|catechol synthesis biological_process owl:Class GO:0140242 biolink:NamedThing translation at postsynapse Translation that occurs at the postsynapse. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/synapse/issues/210 Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua. pg 2018-07-15T09:26:27Z biological_process owl:Class CHEBI:32565 biolink:NamedThing lysinium(2+) An alpha-amino-acid cation obtained by protonation of both amino groups of lysine. tmpxe7fu0cj_hp_relaxed.owl lysinediium|lysine dication|1-carboxypentane-1,5-diaminium|lysinium(2+) +2 C6H16N2O2 InChI=1S/C6H14N2O2/c7-4-2-1-3-5(8)6(9)10/h5H,1-4,7-8H2,(H,9,10)/p+2 KDXKERNSBIXSRK-UHFFFAOYSA-P 148.20352 148.12008 [NH3+]CCCCC([NH3+])C(O)=O chebi_ontology owl:Class HP:0005229 biolink:NamedThing Jejunoileal ulceration tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025232 human_phenotype owl:Class HP:0012036 biolink:NamedThing Sternocleidomastoid amyotrophy Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023067 peter 2012-07-27T01:51:24Z human_phenotype owl:Class HP:0012235 biolink:NamedThing Drug-induced agranulocytosis A type of agranulocytosis related to ingestion of a specific medication. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:47318007|UMLS:C0272178 peter 2013-03-31T09:44:55Z human_phenotype owl:Class HP:0012234 biolink:NamedThing Agranulocytosis Marked decrease in the number of granulocytes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0702094 Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter. peter 2013-03-31T09:42:50Z human_phenotype owl:Class HP:0010707 biolink:NamedThing 1-4 finger syndactyly Syndactyly with fusion of fingers one to four. tmpxe7fu0cj_hp_relaxed.owl Webbed 1st-4th finger UMLS:C4023729 sdoelken 2010-03-26T05:12:44Z owl:Class CHEBI:38976 biolink:NamedThing alkylbenzene A monocyclic arene that is benzene substituted with one or more alkyl groups. tmpxe7fu0cj_hp_relaxed.owl Alkylbenzol|alkylbenzene|alkylbenzenes chebi_ontology owl:Class CHEBI:22712 biolink:NamedThing benzenes Any benzenoid aromatic compound consisting of the benzene skeleton and its substituted derivatives. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0040241 biolink:NamedThing Increased RIPA Increased platelet agglutination in response to low-dose ristocetin tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280706 Characteristic of type 2B von Willebrand Disease or platelet-type (pseudo) VWD. (NB: this is not the same as enhanced ristocetin coafactor assay activity) This term has been requested and created by members of the BRIDGE consortium owl:Class HP:0030402 biolink:NamedThing Abnormal platelet aggregation An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0541767 owl:Class UBERON:0005288 biolink:NamedThing tela choroidea of third ventricle Tela chorioidea that lines the third ventricle[ZFA]. The part of the choroid plexus in relation to the body of the ventricle forms the vascular fringed margin of a triangular process of pia mater, named the tela chorioidea of the third ventricle, and projects from under cover of the lateral edge of the fornix. Blood is supplied by branches from the superior cerebellar artery[WP]. tmpxe7fu0cj_hp_relaxed.owl tela chorioidea of third ventricle|choroid membrane of third ventricle|tela choroidea ventriculi tertii|tela chorioidea third ventricle|tela choroidea third ventricle ZFA:0005159|BAMS:tc3v|TAO:0005159|FMA:78463 http://upload.wikimedia.org/wikipedia/commons/6/60/Gray723.png uberon owl:Class Tela chorioidea that lines the third ventricle.[TAO] HP:0003260 biolink:NamedThing Hydroxyprolinemia An increased concentration of hydroxyproline in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood hydroxyproline levels SNOMEDCT_US:25739007|UMLS:C0268531|MSH:C562669 Hydroxyproline is an imino acid normally present in human plasma and is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. Hyperhydroxyprolinemic patients show hydroxyproline blood levels between 150 and 500 micromole per liter. Normal levels are around 10-20 micromole per liter. human_phenotype owl:Class HP:0007344 biolink:NamedThing Atrophy/Degeneration involving the spinal cord tmpxe7fu0cj_hp_relaxed.owl Atrophic and degenerative changes in the spinal cord UMLS:C1843858 owl:Class HP:0011818 biolink:NamedThing Nasofrontal encephalocele tmpxe7fu0cj_hp_relaxed.owl Naso-frontal encephalocele UMLS:C0431291|SNOMEDCT_US:253106003 peter 2012-04-29T09:20:25Z human_phenotype owl:Class HP:0007330 biolink:NamedThing Frontal encephalocele tmpxe7fu0cj_hp_relaxed.owl UMLS:C0431289|SNOMEDCT_US:253103006|MSH:D004677 human_phenotype owl:Class CHEBI:30697 biolink:NamedThing beta-D-glucosyl group A D-glucosyl group obtained by removing the hydroxy group from the hemiacetal function of beta-D-glucose and, by extension, of a lower oligosaccharide having beta-D-glucose at the reducing end. The unsubstituted parent of the class of beta-D-glucosyl groups. tmpxe7fu0cj_hp_relaxed.owl beta-D-glucosyl|beta-D-glucopyranosyl|beta-D-glucosyl group|beta-glucosyl|beta-D-glucopyranosyl group|beta-glucopyranosyl group 0 C6H11O5 163.14850 163.06065 [C@@H]1([C@@H]([C@H]([C@@H]([C@H](O1)CO)O)O)O)* PMID:28979944 chebi_ontology owl:Class CHEBI:24280 biolink:NamedThing D-glucosyl group The glucosyl group formed from D-glucopyranose. tmpxe7fu0cj_hp_relaxed.owl glucopyranosyl group|D-glucopyranosyl group|D-glucopyranosyl|glucosyl group 0 C6H11O5 163.14850 163.06065 C1([C@@H]([C@H]([C@@H]([C@H](O1)CO)O)O)O)* chebi_ontology owl:Class GO:0002062 biolink:NamedThing chondrocyte differentiation The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte. A chondrocyte is a polymorphic cell that forms cartilage. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025136 biolink:NamedThing Increased serum estriol An elevation above normal limits of estriol concentration in the circulation. tmpxe7fu0cj_hp_relaxed.owl 2016-11-27 14:13:00+00:00 HPO:probinson owl:Class HP:0100100 biolink:NamedThing Absent epiphysis of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the outermost bone of the 2nd toe UMLS:C4022321 doelkens 2010-06-24T10:04:20Z human_phenotype owl:Class HP:0100044 biolink:NamedThing Absent epiphyses of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the 2nd toe bone UMLS:C4022377 doelkens 2010-06-24T09:58:18Z human_phenotype owl:Class HP:0009972 biolink:NamedThing Duplication of phalanx of 4th finger This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. tmpxe7fu0cj_hp_relaxed.owl Duplication of bones of the ring finger|Partial/complete duplication of phalanges of the 4th finger UMLS:C4021359 doelkens 2009-05-26T02:19:28Z human_phenotype owl:Class GO:0060591 biolink:NamedThing chondroblast differentiation The process in which a mesenchymal cell, acquires specialized structural and/or functional features of a chondroblast. Differentiation includes the processes involved in commitment of a cell to a chondroblast fate. A chondroblast is a precursor cell to chondrocytes. tmpxe7fu0cj_hp_relaxed.owl chondrocyte progenitor cell differentiation dph 2009-05-11T07:47:36Z biological_process owl:Class GO:0061073 biolink:NamedThing ciliary body morphogenesis The process in which the ciliary body generated and organized. The ciliary body is the circumferential tissue inside the eye composed of the ciliary muscle and ciliary processes. tmpxe7fu0cj_hp_relaxed.owl dph 2010-03-16T10:55:19Z biological_process owl:Class HP:0008804 biolink:NamedThing Broad femoral head Increased width of the femoral head. tmpxe7fu0cj_hp_relaxed.owl Wide head of thigh bone UMLS:C4024619 human_phenotype owl:Class HP:0003368 biolink:NamedThing Abnormal femoral head morphology An abnormality of the femoral head. tmpxe7fu0cj_hp_relaxed.owl Abnormal head of thigh bone|Abnormality of the femoral head UMLS:C4025620 human_phenotype owl:Class UBERON:0016534 biolink:NamedThing white matter of temporal lobe A white matter of cerebral lobe that is part of a temporal lobe. tmpxe7fu0cj_hp_relaxed.owl FMA:256186 uberon owl:Class UBERON:0002459 biolink:NamedThing inferior palpebral vein A blood vessel that drains from from an lower eyelid. tmpxe7fu0cj_hp_relaxed.owl vein of inferior eyelid|inferior palpebral veins set|lower palpebral vein|venae palpebrales inferiores|inferior palpebral veins UMLS:C1760539|EMAPA:37156|FMA:50913|MA:0002147|NCIT:C53049 uberon owl:Class HP:0011635 biolink:NamedThing Partial diaphragmatic absence of pericardium Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023254 peter 2012-04-08T10:13:04Z human_phenotype owl:Class HP:0008309 biolink:NamedThing Medium chain dicarboxylic aciduria An increase in the level of medium chain dicarboxylic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1860081 owl:Class GO:0022029 biolink:NamedThing telencephalon cell migration The orderly movement of a cell from one site to another at least one of which is located in the telencephalon. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:39015 biolink:NamedThing apolipoprotein Protein component on the surface of lipoprotein. tmpxe7fu0cj_hp_relaxed.owl apolipoproteins chebi_ontology owl:Class UBERON:0010569 biolink:NamedThing manual digit 5 metacarpus pre-cartilage condensation A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 5 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl metacarpal 5 pre-cartilage condensation|finger 5 metacarpus pre-cartilage condensation|fore limb digit 5 metacarpus pre-cartilage condensation|hand digit 5 metacarpus pre-cartilage condensation|manual digit V metacarpus pre-cartilage condensation EHDAA2:0000539|EMAPA:17722 uberon owl:Class HP:0020213 biolink:NamedThing Somatosensory-induced seizure A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise. tmpxe7fu0cj_hp_relaxed.owl robinp 2020-02-24 13:48:34+00:00 owl:Class HP:0011817 biolink:NamedThing Basal encephalocele Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023176 The skull base is made up of the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. peter 2012-04-29T09:14:34Z human_phenotype owl:Class HP:0006855 biolink:NamedThing Cerebellar vermis atrophy Wasting (atrophy) of the vermis of cerebellum. tmpxe7fu0cj_hp_relaxed.owl Vermian atrophy|Atrophy of the cerebellar vermis|Atrophy of cerebellar vermis UMLS:C0742028 This sign can be visualized with brain MRI. HP:0007121|HP:0007312 owl:Class GO:0021636 biolink:NamedThing trigeminal nerve morphogenesis The process in which the anatomical structure of the trigeminal nerve is generated and organized. The trigeminal nerve is composed of three large branches. They are the ophthalmic (V1, sensory), maxillary (V2, sensory) and mandibular (V3, motor and sensory) branches. The sensory ophthalmic branch travels through the superior orbital fissure and passes through the orbit to reach the skin of the forehead and top of the head. The maxillary nerve contains sensory branches that reach the pterygopalatine fossa via the inferior orbital fissure (face, cheek and upper teeth) and pterygopalatine canal (soft and hard palate, nasal cavity and pharynx). The motor part of the mandibular branch is distributed to the muscles of mastication, the mylohyoid muscle and the anterior belly of the digastric. The mandibular nerve also innervates the tensor veli palatini and tensor tympani muscles. The sensory part of the mandibular nerve is composed of branches that carry general sensory information from the mucous membranes of the mouth and cheek, anterior two-thirds of the tongue, lower teeth, skin of the lower jaw, side of the head and scalp and meninges of the anterior and middle cranial fossae. tmpxe7fu0cj_hp_relaxed.owl CN V morphogenesis biological_process owl:Class HP:0012050 biolink:NamedThing Anasarca An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space. tmpxe7fu0cj_hp_relaxed.owl Extreme generalised oedema|Extreme generalized edema SNOMEDCT_US:16740003|MSH:D004487|SNOMEDCT_US:442433009|UMLS:C0151603 peter 2012-08-01T12:53:48Z human_phenotype owl:Class HP:0006721 biolink:NamedThing Acute lymphoblastic leukemia A form of acute leukemia characterized by excess lympoblasts. tmpxe7fu0cj_hp_relaxed.owl Acute lymphatic leukaemia|Acute lymphatic leukemia|Acute lymphocytic leukaemia|Acute lymphoid leukemia|Acute lymphocytic leukemia|Acute lymphoblastic leukaemia|Acute lymphoid leukaemia SNOMEDCT_US:91857003|SNOMEDCT_US:128822004|UMLS:C0023449 HP:0004803|HP:0005555 human_phenotype owl:Class CHEBI:25506 biolink:NamedThing neuraminates tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:63561 biolink:NamedThing ketoaldonate derivative A carbohydrate acid derivative anion that is formally obtained from a ketoaldonate. tmpxe7fu0cj_hp_relaxed.owl ketoaldonate derivatives chebi_ontology owl:Class PATO:0001793 biolink:NamedThing right side of A spatial quality inhering in a bearer by virtue of the bearer's being located on right side of a another entity. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class NCBITaxon:436486 biolink:NamedThing Dinosauria tmpxe7fu0cj_hp_relaxed.owl dinosaur|dinosaurs GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:8492 biolink:NamedThing Archosauria tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0007383 biolink:NamedThing enveloping layer of ectoderm Outermost layer of cells surrounding the embryo. tmpxe7fu0cj_hp_relaxed.owl EVL|enveloping layer TAO:0000086|EFO:0003425|ZFA:0000086 uberon owl:Class Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm. Kimmel et al, 1995.[TAO] relationship loss: develops_from superficial blastomere (TAO:0001484)[TAO] Originally this tissue is one cell layer thick but in most vertebrates it soon becomes a two layered structure. The outer layer gives rise to the periderm. UBERON:0016416 biolink:NamedThing anterior chest Subdivision of thorax which is anterior to the plane of the posterior boundary of the middle mediastinum. tmpxe7fu0cj_hp_relaxed.owl ventral chest|front of chest|anterior thoracic region FMA:24816 uberon owl:Class HP:0032056 biolink:NamedThing Focal cortical dysplasia type IIIb A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 11:18:31+00:00 This type of focal cortical dysplasia is associated with glial or glioneuronal tumors (Ganglioglioma, Dysembryoplastic Neuroepithelial Tumor (DNT, syn. DNET) or other epilepsy-associated neoplasms. It is important to exclude tumor infiltration in areas of cortical abnormalities before establishing the diagnosis of FCD. The etiology and pathogenesis of FCD Type IIIb remains to be determined, but is likely an acquired process. peter owl:Class CL:0000646 biolink:NamedThing basal cell Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament. tmpxe7fu0cj_hp_relaxed.owl BTO:0000939|FMA:62516 cell owl:Class UBERON:0019189 biolink:NamedThing carotid artery endothelium tmpxe7fu0cj_hp_relaxed.owl carotid endothelium|carotid epithelium BTO:0004626 uberon owl:Class GO:0010667 biolink:NamedThing negative regulation of cardiac muscle cell apoptotic process Any process that decreases the rate or extent of cardiac cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a cardiac muscle cell and result in its death. tmpxe7fu0cj_hp_relaxed.owl negative regulation of cardiac muscle cell apoptosis|down regulation of cardiac muscle cell apoptosis|inhibition of cardiac muscle cell apoptosis|downregulation of cardiac muscle cell apoptosis|down-regulation of cardiac muscle cell apoptosis biological_process owl:Class GO:0010664 biolink:NamedThing negative regulation of striated muscle cell apoptotic process Any process that decreases the rate or extent of striated muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a striated muscle cell and result in its death. tmpxe7fu0cj_hp_relaxed.owl down-regulation of striated muscle cell apoptosis|negative regulation of striated muscle cell apoptosis|down regulation of striated muscle cell apoptosis|inhibition of striated muscle cell apoptosis|downregulation of striated muscle cell apoptosis biological_process owl:Class GO:0070233 biolink:NamedThing negative regulation of T cell apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of T cell death by apoptotic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of T cell apoptosis|inhibition of T cell apoptosis|down-regulation of T cell apoptosis|negative regulation of T lymphocyte apoptosis|negative regulation of programmed cell death of T cells by apoptosis|down regulation of T cell apoptosis|negative regulation of T-lymphocyte apoptosis|downregulation of T cell apoptosis|negative regulation of T-cell apoptosis biological_process owl:Class HP:0041182 biolink:NamedThing Fractured middle phalanx of manual digit 2 A partial or complete breakage of the middle phalanx of manual digit 2. tmpxe7fu0cj_hp_relaxed.owl bone middle phalanx of manual digit 2 owl:Class GO:0045780 biolink:NamedThing positive regulation of bone resorption Any process that activates or increases the frequency, rate or extent of bone resorption. tmpxe7fu0cj_hp_relaxed.owl upregulation of bone resorption|stimulation of bone resorption|up-regulation of bone resorption|activation of bone resorption|up regulation of bone resorption biological_process owl:Class CL:0000995 biolink:NamedThing CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor tmpxe7fu0cj_hp_relaxed.owl CD71-positive common myeloid precursor OR CD7-negative lymphoid precursor OR CD7-positive lymphoid Originally described in the dendritic cell ontology (DC_CL:1100000)(PMID:19243617). cell owl:Class HP:0025501 biolink:NamedThing Class III obesity Obesity with a body mass index of 40 kg per square meter or higher. tmpxe7fu0cj_hp_relaxed.owl Obesity grade 3 2017-05-14 20:09:17+00:00 HPO:probinson owl:Class HP:0001560 biolink:NamedThing Abnormality of the amniotic fluid Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. tmpxe7fu0cj_hp_relaxed.owl Abnormal amniotic fluid SNOMEDCT_US:42170009|UMLS:C0266781 owl:Class UBERON:0004437 biolink:NamedThing proximal epiphysis of middle phalanx of manual digit 3 A proximal epiphysis that is part of a middle phalanx of manual digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of middle phalanx of third digit of hand|base of middle phalanx of middle finger|basal epiphysis of middle phalanx of middle finger|proximal epiphysis of middle phalanx of middle finger|base of middle phalanx of third finger|proximal epiphysis of middle phalanx of manual digit III FMA:37514 uberon owl:Class UBERON:0006922 biolink:NamedThing cervix squamous epithelium The squamous epithelium of the cervical portio is similar to that of the vagina, except that it is generally smooth and lacks rete pegs. Colposcopically, it appears featureless except for a fine network of vessels which is sometimes visible. The relative opacity and pale pink coloration of the squamous epithelium derives from its multi-layered histology and the location of its supporting vessels below the basement membrane. tmpxe7fu0cj_hp_relaxed.owl cervical squamous epithelium MA:0001725|NCIT:C49219|UMLS:C1707351 uberon owl:Class UBERON:0005953 biolink:NamedThing outflow part of right ventricle Anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk. tmpxe7fu0cj_hp_relaxed.owl conus arteriosus (infundibulum)|conus arteriosus|infundibulum|RVOT|right ventricular outflow tract|outflow tract of right ventricle|pulmonary conus|arterial cone|pulmonary cone|right ventricle pulmonary outflow tract|infundibulum of right ventricle SCTID:244379003|EMAPA:37926|NCIT:C61368|FMA:7216|UMLS:C1881209 uberon owl:Class UBERON:0005337 biolink:NamedThing outflow tract of ventricle A ventricular outflow tract is a portion of either the left ventricle or right ventricle of the heart through which blood passes in order to enter the great arteries. The right ventricular outflow tract (RVOT) is an infundibular extension of the ventricular cavity which connects to the pulmonary artery. The left ventricular outflow tract (LVOT), which connects to the aorta, is nearly indistinguishable from the rest of the ventricle[WP]. tmpxe7fu0cj_hp_relaxed.owl ventricular outflow tract|outflow part of ventricle|heart ventricle outflow tract FMA:13225|Wikipedia:Ventricular_outflow_tract|XAO:0004140 uberon owl:Class GO:0014039 biolink:NamedThing negative regulation of Schwann cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of Schwann cell differentiation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of Schwann cell differentiation|inhibition of Schwann cell differentiation|down regulation of Schwann cell differentiation|downregulation of Schwann cell differentiation biological_process owl:Class HP:0005199 biolink:NamedThing Aplasia of the abdominal wall musculature Absence of the abdominal musculature. tmpxe7fu0cj_hp_relaxed.owl Absent abdominal musculature UMLS:C3149223 human_phenotype owl:Class GO:0046671 biolink:NamedThing negative regulation of retinal cell programmed cell death Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death that occurs in the retina. tmpxe7fu0cj_hp_relaxed.owl downregulation of retinal programmed cell death|down-regulation of retinal programmed cell death|inhibition of retinal programmed cell death|negative regulation of retinal programmed cell death|down regulation of retinal programmed cell death biological_process owl:Class HP:0010450 biolink:NamedThing Esophageal stenosis An abnormal narrowing of the lumen of the esophagus. tmpxe7fu0cj_hp_relaxed.owl Narrowing of the esophagus|Narrowing of the oesophagus SNOMEDCT_US:63305008|UMLS:C0014866|MSH:D004940 peter 2009-09-14T10:42:33Z human_phenotype owl:Class HP:0030644 biolink:NamedThing Blind-spot enlargment tmpxe7fu0cj_hp_relaxed.owl Blind spot enlargment UMLS:C4073109 owl:Class HP:0033086 biolink:NamedThing Increased antral follicle count A count of antral follicles that is higher than normal for age. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033084 biolink:NamedThing Abnormal antral follicle count Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:1901860 biolink:NamedThing positive regulation of mitochondrial DNA metabolic process Any process that activates or increases the frequency, rate or extent of mitochondrial DNA metabolic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of mtDNA metabolism|positive regulation of mtDNA metabolic process|up regulation of mtDNA metabolic process|up regulation of mtDNA metabolism|up regulation of mitochondrial DNA metabolism|activation of mitochondrial DNA metabolism|activation of mitochondrial DNA metabolic process|up-regulation of mitochondrial DNA metabolism|activation of mtDNA metabolism|positive regulation of mitochondrial DNA metabolism|upregulation of mitochondrial DNA metabolism|up-regulation of mtDNA metabolic process|up-regulation of mtDNA metabolism|upregulation of mtDNA metabolism|up regulation of mitochondrial DNA metabolic process|up-regulation of mitochondrial DNA metabolic process|upregulation of mtDNA metabolic process|activation of mtDNA metabolic process|upregulation of mitochondrial DNA metabolic process yaf 2013-02-01T10:05:14Z biological_process owl:Class HP:0006088 biolink:NamedThing 1-5 finger complete cutaneous syndactyly tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861357 owl:Class HP:0001096 biolink:NamedThing Keratoconjunctivitis Inflammation of the cornea and conjunctiva. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0022573|MSH:D007637|SNOMEDCT_US:88151007 human_phenotype owl:Class HP:0003148 biolink:NamedThing Elevated serum acid phosphatase tmpxe7fu0cj_hp_relaxed.owl Elevated serum acid phosphatase|Acid phosphatase elevated UMLS:C1839866 Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme. human_phenotype owl:Class HP:0005302 biolink:NamedThing Carotid artery tortuosity Abnormal tortuous (i.e., twisted) form of the carotid arteries. tmpxe7fu0cj_hp_relaxed.owl Tortuous carotid arteries SNOMEDCT_US:401051003|UMLS:C1303076 human_phenotype owl:Class HP:0010343 biolink:NamedThing Aplasia/Hypoplasia of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Absent/small pinky toe|Absent/small little toe|Absent/underdeveloped pinky toe|Absent/small pinkie toe UMLS:C4023891 doelkens 2009-07-16T11:41:49Z human_phenotype owl:Class HP:0040269 biolink:NamedThing Blocked Eustachian tube tmpxe7fu0cj_hp_relaxed.owl Obstruction of Eustachian tube SNOMEDCT_US:48145001|UMLS:C0149508 owl:Class UBERON:0003396 biolink:NamedThing mesentery of colon A mesentery that is part of a colon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl large intestinal mesentery|colon mesentery|mesocolon|large bowel mesentery|mesentery of large bowel|mesentery of large intestine FMA:14645|EMAPA:18942 uberon owl:Class UBERON:0003335 biolink:NamedThing serosa of colon A serous membrane that is part of a colon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl large bowel serosa|visceral peritoneum of colon|large bowel serous membrane|colon serous membrane|serous membrane of large bowel|colon serosa|serosa of large bowel|colonic serosa|serous membrane of colon FMA:14990|EMAPA:27387|MA:0003199 uberon owl:Class HP:0006742 biolink:NamedThing Congenital neuroblastoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024986 human_phenotype owl:Class HP:0011526 biolink:NamedThing Abnormality of lens shape An abnormal shape of the lens. tmpxe7fu0cj_hp_relaxed.owl Abnormality of lens shape UMLS:C4023314 peter 2012-04-06T09:16:11Z human_phenotype owl:Class HP:0005264 biolink:NamedThing Abnormality of the gallbladder An abnormality of the gallbladder. tmpxe7fu0cj_hp_relaxed.owl Anomaly of the gallbladder|Abnormality of the gallbladder SNOMEDCT_US:49714001|SNOMEDCT_US:253803008|UMLS:C0266249 peter 2008-03-26T04:40:00Z human_phenotype owl:Class HP:0031349 biolink:NamedThing Levotransposition of the great arteries A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl L-TGA 2017-08-27 14:19:14+00:00 peter owl:Class HP:0001669 biolink:NamedThing Transposition of the great arteries A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. tmpxe7fu0cj_hp_relaxed.owl Transposition of great vessels SNOMEDCT_US:26146002|UMLS:C3536741|SNOMEDCT_US:204296002 human_phenotype owl:Class HP:0031120 biolink:NamedThing Bicuspid aortic valve with right-noncoronary cusp fusion A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 12:00:04+00:00 peter owl:Class HP:0031118 biolink:NamedThing Single raphe bicuspid aortic valve A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 11:46:00+00:00 peter owl:Class CHEBI:28087 biolink:NamedThing glycogen A polydisperse, highly branched glucan composed of chains of D-glucopyranose residues in alpha(1->4) glycosidic linkage, joined together by alpha(1->6) glycosidic linkages. A small number of alpha(1->3) glycosidic linkages and some cumulative alpha(1->6) links also may occur. The branches in glycogen typically contain 8 to 12 glucose residues. tmpxe7fu0cj_hp_relaxed.owl liver starch|animal starch|WURCS=2.0/1,4,3/[a2122h-1a_1-5]/1-1-1-1/a4-b1_b4-c1_b6-d1|Glycogen MetaCyc:CPD0-971|KEGG:C00182|GlyGen:G99991IU|CAS:9005-79-2|GlyTouCan:G99991IU|HMDB:HMDB0000757|Wikipedia:Glycogen CHEBI:5466|CHEBI:24379 chebi_ontology owl:Class CHEBI:24384 biolink:NamedThing glycogens tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class GO:0043143 biolink:NamedThing regulation of translation by machinery localization Any process in which proteins and protein complexes involved in translation are transported to, or maintained in, a specific location. tmpxe7fu0cj_hp_relaxed.owl translational protein localization|establishment and maintenance of translational protein localization|regulation of translation by machinery localisation|translational machinery localization|establishment and maintenance of translational machinery localization biological_process owl:Class HP:0025606 biolink:NamedThing Abnormal medial rectus muscle physiology A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 22:41:09+00:00 HPO:probinson owl:Class HP:0033679 biolink:NamedThing Abnormal red nucleus morphology Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement. tmpxe7fu0cj_hp_relaxed.owl 2021-03-06 13:01:58+00:00 peter owl:Class HP:0100955 biolink:NamedThing Giant cell granuloma of mandible tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021912 doelkens 2011-12-02T04:57:10Z human_phenotype owl:Class HP:0009374 biolink:NamedThing Broad phalanges of the 5th finger Increased width of the phalanges of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Broad pinkie finger bones|Broad pinky finger bones|Broad little finger bones UMLS:C4024412 doelkens 2009-01-13T10:55:04Z human_phenotype owl:Class UBERON:0005192 biolink:NamedThing deferent duct artery An artery in males that provides blood to the vas deferens. The artery usually arises from the anterior trunk of the superior vesical artery. It accompanies the vas deferens into the testis, where it anastomoses with the testicular artery. In this way it also supplies blood to the testis and epididymis. A small branch supplies the ureter[WP]. tmpxe7fu0cj_hp_relaxed.owl ductus deferens artery|arteria ductus deferentis|vas deferens artery|artery of ductus deferens EMAPA:37513|MA:0001940|FMA:18930 uberon owl:Class HP:0012433 biolink:NamedThing Abnormal social behavior An abnormality of actions or reactions of a person taking place during interactions with others. tmpxe7fu0cj_hp_relaxed.owl Abnormal social interactions|Abnormal social behavior|Abnormal social behaviour UMLS:C4021087|UMLS:C4020726 peter 2013-11-23T08:37:01Z human_phenotype owl:Class CHEBI:76414 biolink:NamedThing propellant A compressed gas or liquid with a boiling point lower than room temperature which to used to propel and dispense liquids such as deodorants, insecticides, paints, etc. from aerosol cans. tmpxe7fu0cj_hp_relaxed.owl propellants PMID:22519407|PMID:24001847 chebi_ontology owl:Class GO:0051469 biolink:NamedThing vesicle fusion with vacuole The joining of the lipid bilayer membrane around a vesicle with the lipid bilayer membrane around the vacuole. tmpxe7fu0cj_hp_relaxed.owl heterotypic vacuole fusion, non-autophagic|heterotypic vacuole fusion (non-autophagic) GO:0042146 biological_process owl:Class HP:0006619 biolink:NamedThing Anterior rib punctate calcifications Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859120 human_phenotype owl:Class HP:0010069 biolink:NamedThing Bullet-shaped 1st metatarsal An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped 1st long bone of foot UMLS:C4024075 doelkens 2009-05-29T12:13:57Z human_phenotype owl:Class UBERON:0005239 biolink:NamedThing basal plate metencephalon tmpxe7fu0cj_hp_relaxed.owl metencephalon basal plate EHDAA2:0001154|EMAPA:17078|VHOG:0000320 uberon owl:Class The ventral half of the developing neural tube that is the metencephalon. [Chordate_evolution_and_the_origin_of_craniates:_An_old_brain_in_a_new_head._AnaT_Rec_(New_Anat)_(2000)_261(3):_111-125, See_Butler_AB][VHOG] CHEBI:35406 biolink:NamedThing oxoanion An oxoanion is an anion derived from an oxoacid by loss of hydron(s) bound to oxygen. tmpxe7fu0cj_hp_relaxed.owl oxoacid anions|oxoanion|oxoanions CHEBI:33274|CHEBI:33436 chebi_ontology owl:Class GO:2000790 biolink:NamedThing regulation of mesenchymal cell proliferation involved in lung development Any process that modulates the frequency, rate or extent of mesenchymal cell proliferation involved in lung development. tmpxe7fu0cj_hp_relaxed.owl pr 2011-06-24T01:53:50Z biological_process owl:Class HP:0006515 biolink:NamedThing Interstitial pneumonitis tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:64667001|UMLS:C0206061|MSH:D017563 owl:Class UBERON:0010377 biolink:NamedThing mesenchyme from somatopleure Mesenchyme that develops_from a somatopleure. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001120 the way this class is defined also includes extraembryonic mesenchyme such as the amniotic mesenchyme; in future this may be restricted to embryonic derivatives uberon owl:Class GO:0042730 biolink:NamedThing fibrinolysis A process that solubilizes fibrin in the bloodstream of a multicellular organism, chiefly by the proteolytic action of plasmin. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Fibrinolysis biological_process owl:Class HP:0005585 biolink:NamedThing Spotty hyperpigmentation tmpxe7fu0cj_hp_relaxed.owl Spotty increased pigmentation|Patchy hyperpigmentation UMLS:C3806179 human_phenotype owl:Class HP:0009142 biolink:NamedThing Duplication of bones involving the upper extremities tmpxe7fu0cj_hp_relaxed.owl Duplication of bones involving the upper extremities UMLS:C4024574 peter 2008-05-02T01:23:00Z human_phenotype owl:Class HP:0033153 biolink:NamedThing Elevated circulating dodecenoylcarnitine concentration An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated plasma dodecenoylcarnitine concentration 2020-09-19 12:32:07+00:00 peter owl:Class HP:0033109 biolink:NamedThing Abnormal circulating non-proteinogenic amino acid concentration Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. tmpxe7fu0cj_hp_relaxed.owl 2020-08-29 12:04:47+00:00 peter owl:Class HP:0001977 biolink:NamedThing Abnormal thrombosis Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). tmpxe7fu0cj_hp_relaxed.owl Abnormal blood clotting|Abnormal blood clot UMLS:C4025731 human_phenotype owl:Class UBERON:0004724 biolink:NamedThing medial palpebral ligament The medial palpebral ligament (tendo oculi), about 4 mm. in length and 2 mm. in breadth, is attached to the frontal process of the maxilla in front of the lacrimal groove. Crossing the lacrimal sac, it divides into two parts, upper and lower, each attached to the medial end of the corresponding tarsus. As the ligament crosses the lacrimal sac, a strong aponeurotic is given off from its posterior surface; this expands over the sac, and is attached to the posterior lacrimal crest. tmpxe7fu0cj_hp_relaxed.owl l. palpebrale mediale NCIT:C52724|MA:0001258|UMLS:C0229251|EMAPA:37608 http://upload.wikimedia.org/wikipedia/commons/6/6f/Gray894.png uberon owl:Class HP:0500048 biolink:NamedThing Delayed canalization of nasolacrimal duct A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period. tmpxe7fu0cj_hp_relaxed.owl 2018-02-19 15:38:47+00:00 ORCID:0000-0001-7941-2961 owl:Class GO:0061148 biolink:NamedThing extracellular matrix organization involved in endocardium development A process which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix of the endocardium. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers. tmpxe7fu0cj_hp_relaxed.owl extracellular matrix organisation involved in endocardium development dph 2010-06-03T09:18:02Z biological_process owl:Class GO:0006693 biolink:NamedThing prostaglandin metabolic process The chemical reactions and pathways involving prostaglandins, any of a group of biologically active metabolites which contain a cyclopentane ring due to the formation of a bond between two carbons of a fatty acid. They have a wide range of biological activities. tmpxe7fu0cj_hp_relaxed.owl prostaglandin metabolism biological_process owl:Class GO:0006692 biolink:NamedThing prostanoid metabolic process The chemical reactions and pathways involving prostanoids, any compound based on or derived from the prostanoate structure. tmpxe7fu0cj_hp_relaxed.owl prostanoid metabolism biological_process owl:Class GO:0061045 biolink:NamedThing negative regulation of wound healing Any process that decreases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. tmpxe7fu0cj_hp_relaxed.owl dph 2010-02-25T10:33:30Z biological_process owl:Class HP:0006107 biolink:NamedThing Fingerpad telangiectases Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers. tmpxe7fu0cj_hp_relaxed.owl Finger pad telangiectases|Small dilated blood vessels in fingerpads UMLS:C1861248 HP:0006246 human_phenotype owl:Class GO:0070285 biolink:NamedThing pigment cell development The process whose specific outcome is the progression of a pigment cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a pigment cell fate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0006350 biolink:NamedThing Pulp obliteration Mineralized substance filling the entire dental pulp space. tmpxe7fu0cj_hp_relaxed.owl Obliteration of the pulp chamber|Narrowing of pulp chamber of tooth|Pulp canal obliteration|Small pulp chamber of tooth|Crescent/chevron-shaped pulp chambers|Reduced size of pulp chamber of tooth UMLS:C4025057|UMLS:C4020817|UMLS:C4280448 The diagnosis pulp obliteration can be established using radiological studies. Gradual obliteration of the pulp is a physiologic process that occurs with aging. On radiographs the contours of the pulp disappear in part or totally, but histologically pulpal tissue remains present. owl:Class UBERON:0001205 biolink:NamedThing submucosa of small intestine Submucosal tissue in the small intestines. tmpxe7fu0cj_hp_relaxed.owl submucosa of small bowel|small intestine submucosa|tela submucosa (intestinum tenue)|small intestinal submucosa|tela submucosa intestini tenuis|small bowel submucosa MA:0001562|UMLS:C0227268|EMAPA:37564|FMA:14934|BTO:0002112|NCIT:C33572 uberon owl:Class GO:0009072 biolink:NamedThing aromatic amino acid family metabolic process The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). tmpxe7fu0cj_hp_relaxed.owl aromatic amino acid family metabolism biological_process owl:Class GO:0098917 biolink:NamedThing retrograde trans-synaptic signaling Cell-cell signaling from post to pre-synapse, across the synaptic cleft. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:33582 biolink:NamedThing carbon group molecular entity tmpxe7fu0cj_hp_relaxed.owl carbon group molecular entity|carbon group molecular entities chebi_ontology owl:Class HP:0031800 biolink:NamedThing Elevated circulating apolipoprotein A-II concentration An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism. tmpxe7fu0cj_hp_relaxed.owl Elevated APOAII level|Elevated apolipoprotein A-II level|Elevated Apo-AII level|Elevated apoA-II level 2018-02-25 15:06:30+00:00 peter owl:Class HP:0033460 biolink:NamedThing Increased circulating apolipoprotein circulation Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein). tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:18:42+00:00 peter owl:Class HP:0003070 biolink:NamedThing Elbow ankylosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C0409477|SNOMEDCT_US:202307002 human_phenotype owl:Class HP:0025043 biolink:NamedThing Enlarged mesenteric lymph node Increase in size of one or more mesenteric lymph nodes. tmpxe7fu0cj_hp_relaxed.owl 2016-09-25 14:26:25+00:00 Mesenteric lymph nodes measured by CT as being larger than 10 mm are considered enlarged. HPO:probinson owl:Class HP:0002069 biolink:NamedThing Bilateral tonic-clonic seizure A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. tmpxe7fu0cj_hp_relaxed.owl Generalized tonic-clonic seizure (without specification of onset)|Generalised tonic-clonic seizure (without specification of onset)|Bilateral convulsive seizures|Seizures, tonic-clonic|Tonic-clonic convulsions|Generalized convulsion|Grand mal seizures|Generalised convulsion|Tonic-clonic convulsion|Grand mal MSH:D012640|UMLS:C0494475|SNOMEDCT_US:54200006 A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. HP:0007252|HP:0002407|HP:0001306 owl:Class PATO:0001483 biolink:NamedThing aplastic Absence of an organ, tissue or cell due to failure to develop from a primordium or precursor cell. tmpxe7fu0cj_hp_relaxed.owl aplasia|undeveloped With aplasia, the primordium or precursor develops, but does not proceed in its development to a mature structure quality owl:Class HP:0012329 biolink:NamedThing Tufted angioma A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation. tmpxe7fu0cj_hp_relaxed.owl Angioblastoma of Nakagawa|Tufted hemangioma|Angioblastoma|Progressive capillary hemangioma|Hypertrophic hemangioma MSH:C536924|SNOMEDCT_US:254786000|SNOMEDCT_US:705155008|UMLS:C0346073 peter 2013-08-12T08:57:58Z human_phenotype owl:Class GO:1903707 biolink:NamedThing negative regulation of hemopoiesis Any process that stops, prevents or reduces the frequency, rate or extent of hemopoiesis. tmpxe7fu0cj_hp_relaxed.owl down-regulation of hemopoiesis|inhibition of blood cell formation|down-regulation of haemopoiesis|down-regulation of blood cell formation|negative regulation of hematopoiesis|downregulation of blood cell formation|downregulation of hematopoiesis|downregulation of haemopoiesis|inhibition of haemopoiesis|down-regulation of hematopoiesis|negative regulation of blood cell formation|negative regulation of haemopoiesis|down regulation of haemopoiesis|down regulation of hematopoiesis|inhibition of hematopoiesis|inhibition of blood cell biosynthesis|down regulation of blood cell formation|down regulation of blood cell biosynthesis|downregulation of blood cell biosynthesis|down-regulation of blood cell biosynthesis|inhibition of hemopoiesis|down regulation of hemopoiesis|downregulation of hemopoiesis|negative regulation of blood cell biosynthesis An example of this is Atg7 in mouse (UniProt symbol, Q9D906) in PMID:20080761, inferred from mutant phenotype. pad 2014-12-04T15:34:21Z biological_process owl:Class HP:0033207 biolink:NamedThing Increased proportion autoreactive unresponsive CD21-/low B cells Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures. tmpxe7fu0cj_hp_relaxed.owl 2020-10-12 11:13:28+00:00 Complement receptor type 2 (CR2, CD21) is a 145-kD glycosylated single polypeptide chain consisting of a long extracellular domain of 15 to 16 short consensus repeat sequences, a transmembrane region, and a short cytoplasmic domain. The receptor is expressed on B cells, follicular dendritic cells, thymocytes and a subset of peripheral T cells. CD21 binds complement fragments C3d, C3dg and iC3b that are covalently bound to target antigens. On B cells, CD21 forms a complex together with CD19 and CD81, which functions as a coreceptor to the BCR. Upon simultaneous binding of complement-tagged antigens by CD21 and the BCR the threshold for B cell activation is reduced. Under these circumstances, CD21 acts as a bridge between the coreceptor complex and the BCR. Because CD21 augments B-cell receptor (BCR)-mediated signaling as part of the B-cell coreceptor complex, its downregulation may confer a state of anergy to these cells, as has been demonstrated among CD21-/low B cells in patients with rheumatoid arthritis, common variable immunodeficiency or hepatitis C associated cryoglobulinemia patients. These CD21-/low B cells are enriched in autoreactive clones that are unresponsive to BCR stimulation. peter owl:Class HP:0025024 biolink:NamedThing Megarectum An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum. tmpxe7fu0cj_hp_relaxed.owl 2016-08-26 11:18:38+00:00 Patients with idiopathic megarectum have a dilated rectum but the proximal colon is usually of normal diameter. The condition usually starts in childhood or adolescence, and faecal impaction is common. By contrast, patients with idiopathic megacolon usually do not experience impaction, and the symptoms often begin in adult life [PMID:9301507]. HPO:probinson owl:Class HP:0031231 biolink:NamedThing Narrow incisura width Width of the incisura from the anterior to posterior border less than that observed in the average population. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 13:00:49+00:00 peter owl:Class HP:0033590 biolink:NamedThing Inguinal abscess A circumscribed area of pus or necrotic debris in the groin (inguinal region). tmpxe7fu0cj_hp_relaxed.owl Groin abscess 2021-01-28 02:06:20+00:00 peter owl:Class CHEBI:138131 biolink:NamedThing Delta(5),Delta(7)-sterol Any sterol containing two double bonds between positions 5-6 and 7-8. tmpxe7fu0cj_hp_relaxed.owl a Delta(5),Delta(7)-sterol 0 C19H27OR 271.418 271.20619 C12C(C3C(C(CC3)*)(C)CC1)=CC=C4C2(CCC(C4)O)C MetaCyc:Delta5-Delta7-Steroids chebi_ontology owl:Class HP:0008255 biolink:NamedThing Transient neonatal diabetes mellitus tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:237603002|UMLS:C0342273 human_phenotype owl:Class HP:0000857 biolink:NamedThing Neonatal insulin-dependent diabetes mellitus tmpxe7fu0cj_hp_relaxed.owl UMLS:C3278636 owl:Class CHEBI:51143 biolink:NamedThing nitrogen molecular entity tmpxe7fu0cj_hp_relaxed.owl nitrogen compounds|nitrogen molecular entities|Nitrogenous compounds KEGG:C06061 CHEBI:7594|CHEBI:25556 chebi_ontology owl:Class HP:5000033 biolink:NamedThing Anti-SOX1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells. tmpxe7fu0cj_hp_relaxed.owl Anti-Sry-like high mobility group box (SOX) 1 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0008798 biolink:NamedThing Widened greater sciatic notch The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch. tmpxe7fu0cj_hp_relaxed.owl Widened sacrosciatic notch|Widening of the sacrosciatic notch UMLS:C4024620 HP:0010457 human_phenotype owl:Class HP:0010456 biolink:NamedThing Abnormal greater sciatic notch morphology An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the sacroiliac notch|Abnormality of the greater sacrosciatic notch|Abnormality of greater sciatic notch UMLS:C4023822 peter 2009-09-15T08:14:32Z HP:0030266 human_phenotype owl:Class PR:000001355 biolink:NamedThing immunoglobulin gamma Fc receptor II/III/IV A protein with a core domain architecture consisting of an extracellular domain containing two copies of the Immunoglobulin domain (Pfam:PF00047), followed by a single-pass transmembrane region and a small intracellular domain. The active protein is a low affinity receptor for immunoglobulin gamma chain Fc region. Human II-a, II-b, and II-c represent a recent gene expansion and are equally related to mouse II, III, and IV. Human III-A and III-B are closely related and closer to mouse IV than to mouse III. tmpxe7fu0cj_hp_relaxed.owl PIRSF:PIRSF001980 Category=family. protein owl:Class GO:2000279 biolink:NamedThing negative regulation of DNA biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of DNA biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of DNA anabolism|negative regulation of DNA formation|negative regulation of DNA biosynthesis|negative regulation of DNA synthesis yaf 2010-12-08T04:48:20Z biological_process owl:Class HP:0031484 biolink:NamedThing Cold-induced hemolysis A form of hemolytic anemia that can be triggered by cold temperatures. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 23:00:31+00:00 peter owl:Class HP:0032131 biolink:NamedThing Cervical dysplasia Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium. tmpxe7fu0cj_hp_relaxed.owl 2018-11-22 13:45:16+00:00 peter owl:Class HP:0005864 biolink:NamedThing Pseudoarthrosis A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint"). tmpxe7fu0cj_hp_relaxed.owl Pseudoarthroses UMLS:C0033785|SNOMEDCT_US:410818009|MSH:D011542|SNOMEDCT_US:31511007 human_phenotype owl:Class CHEBI:17137 biolink:NamedThing hydrogensulfite tmpxe7fu0cj_hp_relaxed.owl hydroxidodioxidosulfate(1-)|bisulphite|hydrogen(trioxidosulfate)(1-)|[SO2(OH)](-)|HSO3-|Hydrogen sulfite|Bisulfite|HSO3(-)|hydrogensulfite(1-)|hydrogentrioxosulfate(IV)|hydrogentrioxosulfate(1-)|bisulfite|monohydrogentrioxosulfate|hydrogen sulfite(1-)|hydrosulfite anion -1 HO3S InChI=1S/H2O3S/c1-4(2)3/h(H2,1,2,3)/p-1 LSNNMFCWUKXFEE-UHFFFAOYSA-M 81.07214 80.96519 OS([O-])=O KEGG:C11481|Gmelin:1455|PDBeChem:SO3|CAS:15181-46-1 CHEBI:5598|CHEBI:13367 chebi_ontology owl:Class HP:0001440 biolink:NamedThing Metatarsal synostosis tmpxe7fu0cj_hp_relaxed.owl Fusion of metatarsals|Fusion of the long bones of the feet|Synostosis involving metatarsal bones UMLS:C1862697 peter 2008-04-17T02:36:00Z HP:0004705|HP:0008098 human_phenotype owl:Class CHEBI:22860 biolink:NamedThing amino-acid betaine Any amino acid-derived zwitterion - such as glycine betaine (N,N,N-trimethylammonioacetate) - in which the ammonium nitrogen carries methyl substituents and bears no hydrogen atoms. tmpxe7fu0cj_hp_relaxed.owl amino acid betaines|amino-acid betaines|betaines chebi_ontology owl:Class HP:0007990 biolink:NamedThing Hypoplastic iris stroma Underdevelopment of the stroma of iris. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic iris stoma|Underdeveloped iris stroma|Iris stromal hypoplasia UMLS:C1860344 HP:0007991|HP:0008027 human_phenotype owl:Class HP:0007676 biolink:NamedThing Hypoplasia of the iris Congenital underdevelopment of the iris. tmpxe7fu0cj_hp_relaxed.owl Iris hypoplasia|Hypoplastic iris|Underdeveloped iris UMLS:C0344539|SNOMEDCT_US:95714006 HP:0007998|HP:0007724|HP:0000638 human_phenotype owl:Class HP:0008929 biolink:NamedThing Asymmetric short stature tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024614 human_phenotype owl:Class HP:0004322 biolink:NamedThing Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). tmpxe7fu0cj_hp_relaxed.owl Decreased body height|Small stature|Height less than 3rd percentile|Stature below 3rd percentile|Short stature SNOMEDCT_US:237836003|UMLS:C0349588 peter 2008-02-27T03:19:00Z HP:0003512|HP:0008871|HP:0003507|HP:0001509|HP:0003518|HP:0008888|HP:0008882|HP:0003501|HP:0008913|HP:0003519 human_phenotype owl:Class HP:0012873 biolink:NamedThing Absent vas deferens Aplasia (congenital absence) of the vas deferens. tmpxe7fu0cj_hp_relaxed.owl Absent ductus deferens|Congenital absence of the vas deferens|Absent deferent duct UMLS:C0266444|SNOMEDCT_US:300506000|SNOMEDCT_US:702610009|SNOMEDCT_US:5286009 hecht 2014-06-09T11:14:47Z human_phenotype owl:Class HP:0030752 biolink:NamedThing Dacryocystocele A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve. tmpxe7fu0cj_hp_relaxed.owl Timo cyst SNOMEDCT_US:42758002|UMLS:C0155241 owl:Class UBERON:0009042 biolink:NamedThing prostatic venous plexus The prostatic veins form a well-marked prostatic plexus which lies partly in the fascial sheath of the prostate and partly between the sheath and the prostatic capsule. It communicates with the pudendal and vesical plexuses. tmpxe7fu0cj_hp_relaxed.owl plexus venosus prostaticus|pudendal venous plexus FMA:29711 http://upload.wikimedia.org/wikipedia/commons/b/bd/Gray585.png uberon owl:Class UBERON:0001593 biolink:NamedThing venous plexus A congregation of multiple veins. tmpxe7fu0cj_hp_relaxed.owl venous network|plexus venosus|rete venosum FMA:4767|EMAPA:36327|MA:0000069 http://upload.wikimedia.org/wikipedia/commons/b/bd/Gray585.png uberon owl:Class HP:0033429 biolink:NamedThing Neuroinflammation Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 17:51:49+00:00 peter owl:Class HP:0025301 biolink:NamedThing Nocturnal Applies to an abnormality that occurs in or is exacerbated during the night. tmpxe7fu0cj_hp_relaxed.owl 2016-12-20 12:30:06+00:00 HPO:probinson owl:Class HP:0010102 biolink:NamedThing Aplasia of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Absent outermost bone of big toe UMLS:C4024048 doelkens 2009-05-29T12:41:37Z human_phenotype owl:Class HP:0010076 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Absent/small outermost big toe bone|Absent/underdeveloped outermost big toe bone UMLS:C4024069 doelkens 2009-05-29T12:16:28Z human_phenotype owl:Class PR:000001023 biolink:NamedThing neural cell adhesion molecule NCAM A neural cell adhesion molecule that is involved in neuronal development, synaptic plasticity, and regeneration. tmpxe7fu0cj_hp_relaxed.owl PIRSF:PIRSF501037 Category=family. protein owl:Class GO:0051054 biolink:NamedThing positive regulation of DNA metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving DNA. tmpxe7fu0cj_hp_relaxed.owl up regulation of DNA metabolic process|stimulation of DNA metabolic process|up-regulation of DNA metabolic process|positive regulation of DNA metabolism|activation of DNA metabolic process|upregulation of DNA metabolic process biological_process owl:Class HP:0009201 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of the innnermost bone of the little finger|Speckled calcifications in end part of the innnermost bone of the pinky finger|Speckled calcifications in end part of the innnermost bone of the pinkie finger UMLS:C4024539 doelkens 2009-01-05T05:11:42Z human_phenotype owl:Class HP:0009391 biolink:NamedThing Stippling of the epiphyses of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of little finger bone|Speckled calcifications in end part of pinkie finger bone|Speckled calcifications in end part of pinky finger bone UMLS:C4024398 doelkens 2009-01-13T01:19:03Z human_phenotype owl:Class HP:0002918 biolink:NamedThing Hypermagnesemia An abnormally increased magnesium concentration in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood magnesium levels|High blood Mg levels UMLS:C0151714|SNOMEDCT_US:66978005 human_phenotype owl:Class CHEBI:33249 biolink:NamedThing organyl group Any organic substituent group, regardless of functional type, having one free valence at a carbon atom. tmpxe7fu0cj_hp_relaxed.owl organyl group|groupe organyle|grupos organilo|organyl groups|grupo organilo chebi_ontology owl:Class GO:0101024 biolink:NamedThing mitotic nuclear membrane organization A mitotic cell cycle process which results in the assembly, arrangement, or disassembly of the nuclear inner or outer membrane during mitosis. tmpxe7fu0cj_hp_relaxed.owl nuclear membrane organization involved in mitotic nuclear division https://github.com/geneontology/go-ontology/issues/19949 This process only occurs in organisms which undergo 'closed mitosis' without nuclear breakdown. biological_process owl:Class HP:0012395 biolink:NamedThing Seasonal allergy An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction. tmpxe7fu0cj_hp_relaxed.owl Seasonal allergy SNOMEDCT_US:444316004|SNOMEDCT_US:300910009|SNOMEDCT_US:21719001|MSH:D006255|UMLS:C0018621|SNOMEDCT_US:367498001 peter 2013-11-07T07:51:48Z human_phenotype owl:Class HP:0012022 biolink:NamedThing Congenital portosystemic venous shunt A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver). tmpxe7fu0cj_hp_relaxed.owl MSH:C562830|UMLS:C0344688|SNOMEDCT_US:253330006 peter 2012-07-26T10:16:40Z human_phenotype owl:Class GO:0003241 biolink:NamedThing growth involved in heart morphogenesis Developmental growth that contributes to the shaping of the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T11:28:46Z biological_process owl:Class HP:0500149 biolink:NamedThing Hyperglutamatemia An increased amount of glutamate in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood glutamate levels|Increased blood glutamate concentration 2018-10-04 14:29:35+00:00 Under normal circumstances, plasma glutamate concentration is 5-100 microM/L, the whole blood concentration is 150-300 microM/L while in the brain's ECF it is only 0.3-2 microM/L. owl:Class HP:0025196 biolink:NamedThing Increased total iron binding capacity An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. tmpxe7fu0cj_hp_relaxed.owl 2016-12-05 02:10:17+00:00 Iron is transported to body tissues by a protein, transferrin, in plasma. This protein has two high-affinity binding sites for iron. Determination of total iron-binding capacity (TIBC) of the plasma therefore gives a measure of transferrin, although it can also be directly determined. Virtually all plasma iron (P1) normally is bound to transferrin, and measurement of P1 is assumed to reflect the amount of transferrin iron. The expression transferrin saturation, expressed as percent [(P1/TIBC) x 100], indicates the availability of iron to tissues. As transferrin saturation increases, there is an increase in the amount of diferric transferrin, which has a greater capacity to deliver iron than does monoferric transferrin. Measurements of P1, TIBC, and transferrin saturation have served several purposes in clinical medicine. The P1 concentration and (particularly) transferrin saturation relect the adequacy of iron supply. A saturation of less than 16% indicates a deficient iron supply, whereas a saturation of over 60% as measured on more than one occasion represents excessive iron loading owing to increased iron absorption or liver disease. An increased transferrmn concentration as reflected in the TIBC indicates iron depletion if the effects of estrogen and pregnancyare excluded. Other characteristic changes inboth P1 and TIBC are useful in the differential diagnosis of various diseases, for example, the decrease in transferrin saturations associated with a decreased transferrin concentration in inflammatory states. HPO:probinson owl:Class HP:0011914 biolink:NamedThing Thoracic hypertrichosis Excessive, increased hair growth located in the thoracic region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023129 peter 2012-06-05T10:13:14Z human_phenotype owl:Class HP:0034020 biolink:NamedThing Anti-HLA-A IgG1 antibody positivity The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A). tmpxe7fu0cj_hp_relaxed.owl 2021-09-04 15:24:11+00:00 peter owl:Class HP:0034019 biolink:NamedThing Anti-HLA-A antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A). tmpxe7fu0cj_hp_relaxed.owl 2021-09-04 15:22:26+00:00 peter owl:Class MPATH:86 biolink:NamedThing organ specific developmental defect Developmental defect characteristic of a particular organ or organ system which may be a recognised syndrome or a complex defect showing multiple manifestations. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class MPATH:55 biolink:NamedThing developmental and structural abnormality Developmental and structural abnormalities occurring during embryonic development or during adult life. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class GO:0015851 biolink:NamedThing nucleobase transport The directed movement of a nucleobase, any nitrogenous base that is a constituent of a nucleoside, nucleotide, or nucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl nucleobase transmembrane transport biological_process owl:Class HP:0410363 biolink:NamedThing Increased monosialylated core 1 O-glycan level An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins. tmpxe7fu0cj_hp_relaxed.owl Increased sialyl T-antigen concentration owl:Class HP:0004323 biolink:NamedThing Abnormality of body weight An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. tmpxe7fu0cj_hp_relaxed.owl Abnormality of body weight|Abnormality of habitus UMLS:C0878621|UMLS:C4025357 peter 2008-02-27T03:21:00Z HP:0010718 human_phenotype owl:Class UBERON:0003485 biolink:NamedThing vagina sebaceous gland A sebaceous gland that is part of a vagina [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl sebaceous gland of vagina MA:0001732|EMAPA:37793 uberon owl:Class GO:0097060 biolink:NamedThing synaptic membrane A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. tmpxe7fu0cj_hp_relaxed.owl pr 2011-06-07T11:22:09Z cellular_component owl:Class HP:0000134 biolink:NamedThing Female hypogonadism Decreased functionality of the female gonads, i.e., of the ovary. tmpxe7fu0cj_hp_relaxed.owl Hypogonadism, female SNOMEDCT_US:16041008|UMLS:C0271578 human_phenotype owl:Class GO:0043650 biolink:NamedThing dicarboxylic acid biosynthetic process The chemical reactions and pathways resulting in the formation of dicarboxylic acids, any organic acid containing two carboxyl (-COOH) groups. tmpxe7fu0cj_hp_relaxed.owl dicarboxylic acid biosynthesis|dicarboxylic acid synthesis|dicarboxylate biosynthetic process|dicarboxylic acid formation|dicarboxylic acid anabolism|dicarboxylate biosynthesis biological_process owl:Class GO:0034242 biolink:NamedThing negative regulation of syncytium formation by plasma membrane fusion Any process that decreases the frequency, rate or extent of the formation of a syncytium, a mass of cytoplasm containing several nuclei enclosed within a single plasma membrane, by the fusion of the plasma membranes of two or more individual cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0000646 biolink:NamedThing Amblyopia Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. tmpxe7fu0cj_hp_relaxed.owl Lazy eye|Wandering eyes|Wandering eye SNOMEDCT_US:387742006|MSH:D000550|UMLS:C0002418 Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes. owl:Class HP:0005106 biolink:NamedThing Abnormality of the vertebral endplates Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025251 peter 2008-03-25T06:01:00Z human_phenotype owl:Class HP:0009526 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of innermost long bone of index finger|Cone-shaped epiphysis of proximal index finger phalanx UMLS:C4021456 doelkens 2009-01-16T01:12:34Z HP:0004128 human_phenotype owl:Class HP:0031680 biolink:NamedThing Type II atherosclerotic lesion Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 17:31:10+00:00 peter owl:Class UBERON:0014541 biolink:NamedThing thoracic division of spinal cord central canal Part of spinal cord central canal contained in the thoracic spinal cord. It is continuous rostrally with the cervical spinal cord central canal and caudally with the lumbar spinal cord central canal. tmpxe7fu0cj_hp_relaxed.owl thoracic spinal cord central canal BIRNLEX:1395|UMLS:C0228637|FMA:321588 uberon owl:Class GO:2001020 biolink:NamedThing regulation of response to DNA damage stimulus Any process that modulates the frequency, rate or extent of response to DNA damage stimulus. tmpxe7fu0cj_hp_relaxed.owl regulation of response to genotoxic stress|regulation of cellular response to DNA damage stimulus|regulation of cellular DNA damage response|regulation of DNA damage response yaf 2011-08-19T10:20:25Z biological_process owl:Class PR:P21183 biolink:NamedThing interleukin-5 receptor subunit alpha (mouse) An interleukin-5 receptor subunit alpha that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl Il5ra|IL-5RA (mouse)|mIL5RA|IL-5R subunit alpha (mouse)|IL-5 receptor subunit alpha (mouse)|Il5r|IL-5R-alpha (mouse)|CD125 (mouse) UniProtKB:P21183 Category=organism-gene. protein owl:Class UBERON:0005928 biolink:NamedThing external naris A naris that provides one of the small external openings of the head that give passage to air for breathing. tmpxe7fu0cj_hp_relaxed.owl anterior nares|nostril|anterior naris|blowhole|naris|external nares VHOG:0000544|TAO:0000550|AAO:0010358|FMA:59645|EHDAA2:0001275|NCIT:C33178|ZFA:0000550|UMLS:C0595944|XAO:0003033|OpenCyc:Mx4rvViCLpwpEbGdrcN5Y29ycA|EMAPA:17848|AAO:0000983|MA:0001320|AAO:0000024|EHDAA:9085 uberon owl:Class Hole on the nasal capsule that connects the nasal cavity with the exterior.[AAO] relationship loss: subclass nasal opening (AAO:0000316)[AAO] In a tetrapod, the nasal sac has an external naris (homologous with the anterior naris of the fish) (...).[well established][VHOG] Fish have two pairs of external nostrils. HP:0100160 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the innermost bone of the 3rd toe UMLS:C4022261 doelkens 2010-06-24T10:24:45Z human_phenotype owl:Class HP:0003220 biolink:NamedThing Abnormality of chromosome stability A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0376628|MSH:D019457|UMLS:C1859424 HP:0008307|HP:0002915 human_phenotype owl:Class HP:0030835 biolink:NamedThing Elbow pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow. tmpxe7fu0cj_hp_relaxed.owl Elbow pain SNOMEDCT_US:74323005|UMLS:C0239266 owl:Class UBERON:0007188 biolink:NamedThing mesothelium of serous pericardium A mesothelium that is part of a serous pericardium. tmpxe7fu0cj_hp_relaxed.owl serous pericardium mesothelium|mesothelium of pericardium|pericardial mesothelium SCTID:67300002|BTO:0003157|FMA:18149|EMAPA:16133 uberon owl:Class HP:0030679 biolink:NamedThing Ash-leaf spot A hypopigmented spot in the shape of a leaf from the mountain ash tree. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073125 Wood's light is a blue light with an emission peak of 360 nm. The blue end of visible light is absorbed by epidermal pigmentation. If there is no epidermal pigmentation in a site, the area will appear nonpigmented as compared with the surrounding skin. Minimally visible hypopigmented spots are more easily visualized with the Wood's lamp. Ash-leaf spots are only one variety of hypopigmented macules present on the skin of patients who have tuberous sclerosis. owl:Class HP:0500143 biolink:NamedThing Hypoleucinemia Decreased amount of leucine in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased blood concentration of leucine|Low blood leucine levels 2018-10-04 13:17:00+00:00 owl:Class GO:1904777 biolink:NamedThing negative regulation of protein localization to cell cortex Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cell cortex. tmpxe7fu0cj_hp_relaxed.owl down regulation of protein localization to cell cortex|down-regulation of protein localisation to cell cortex|negative regulation of protein localisation to cell cortex|downregulation of protein localization to cell cortex|inhibition of protein localization to cell cortex|downregulation of protein localisation to cell cortex|inhibition of protein localisation to cell cortex|down regulation of protein localisation to cell cortex|down-regulation of protein localization to cell cortex An example is cye-1 in C. elegans, UniProt ID O01501 in PMID:17115027. es 2015-10-29T16:55:08Z biological_process owl:Class UBERON:0005610 biolink:NamedThing iliac vein Any of the three veins including the common, external and internal iliac veins. tmpxe7fu0cj_hp_relaxed.owl pelvic vein EHDAA2:0000811|MESH:D007084|EMAPA:37151|MA:0002142|UMLS:C0020888|NCIT:C12734 uberon owl:Class UBERON:0004527 biolink:NamedThing alveolar process of maxilla The thickened ridge of bone that contains the tooth sockets on the maxilla. tmpxe7fu0cj_hp_relaxed.owl posterior alveolar ridge|processus alveolaris maxillae|pars dentalis of maxilla|alveolar ridge of maxilla|alveolar part of maxilla|alveolar process of maxilla|processus alveolaris (maxilla)|maxilla alveolar process|lower alveolar ridge|alveolar margin of maxilla AAO:0000396|FMA:52897|MA:0001492 http://upload.wikimedia.org/wikipedia/commons/7/71/Gray157.png UBERON:0001696 uberon owl:Class In humans, the tooth-bearing bones are the maxilla and the mandible. The mineral content of alveolar bone is mostly hydroxyapatite, which is also found in enamel as the main inorganic substance HP:0033712 biolink:NamedThing Repeated implantation failure Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles. tmpxe7fu0cj_hp_relaxed.owl Recurrent implantation failure 2021-04-07 11:40:41+00:00 Successful embryo implantation is a process which requires both a synchronous development and interaction between hatched blastocyst and endometrium. From the clinical point of view, implantation is considered to be successful when gestational sac is diagnosed by ultrasound. peter owl:Class HP:0033335 biolink:NamedThing Abnormal preimplantation embryonic development An anomaly in the development of the embryo in a stage prior to implantation. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 17:49:55+00:00 Human embryo development begins in relative transcriptional silence with an oocyte to embryo transition that lasts for about 3 days and encompasses fusion of the egg and sperm, migration and fusion of the germ cell pronuclei, genetic and epigenetic reprogramming. The embryo subsequently undergoes compaction to form a morula that marks the first morphological indication of a break in radial symmetry. Subsequent cell divisions lead to the development of a blastocyst that comprises a fluid-filled blastocyst cavity and an inner cell mass, surrounded by trophectoderm cells. Implantation, which in humans occurs at approximately day 7 of development, is required for further development of the embryo proper. peter owl:Class HP:0009231 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 5th finger Patchy increase in bone density of the proximal phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the innermost bone of pinky finger|Uneven increase in bone density in the innermost bone of little finger|Uneven increase in bone density in the innermost bone of pinkie finger UMLS:C4024513 doelkens 2009-01-05T06:11:33Z human_phenotype owl:Class UBERON:0001575 biolink:NamedThing extrinsic muscle of tongue A muscle organ that attaches the tongue to some other structure. tmpxe7fu0cj_hp_relaxed.owl extrinsic lingual muscle|extrinsic tongue muscle EHDAA:9148|EHDAA2:0002063|EMAPA:18275|MA:0002296|SCTID:244782006|VHOG:0000825|FMA:46699 uberon owl:Class The lamprey head contains another group of muscles, the epi- and hypo-branchial muscles (EBM and HBM), derivatives of anterior trunk myotomes. (...) The origin and the migration pattern of HBM precursors are very similar to that of the gnathostome MPP, especially to that of the tongue muscle precursors. Other evidence of homology of lamprey HBM to the gnathostome tongue muscle is that HBM is innervated by the nerve termed the hypoglossal nerve based on its morphological position associated with the head/trunk interface. (...) The HBM-specific expression of the LampPax3/7 gene is consistent with the homology of this muscle to the gnathostome tongue muscle, or to the hypobranchial series as a whole (including the infrahyoid and possibly the diaphragm in mammals).[well established][VHOG] main functions are altering the tongue's position allowing for protrusion, retraction, and side-to-side movement All intrinsic and extrinsic muscles of the tongue are supplied by the hypoglossal nerve (CN XII), except for one of the extrinsic muscles, palatoglossus, which is innervated by the Vagus nerve CN X of the pharyngeal plexus. HP:0033315 biolink:NamedThing Visceral epithelial hyaline droplets Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 13:22:46+00:00 peter owl:Class HP:0001169 biolink:NamedThing Broad palm For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. tmpxe7fu0cj_hp_relaxed.owl Broad palm|Wide palm|Broad hand|Broad hands UMLS:C0264142|SNOMEDCT_US:48251003 Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., 2007]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al, [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ). HP:0001174 human_phenotype owl:Class HP:0100871 biolink:NamedThing Abnormality of the palm An abnormality of the palm, that is, of the front of the hand. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the palm UMLS:C4021948 doelkens 2011-11-30T11:21:16Z human_phenotype owl:Class HP:0100053 biolink:NamedThing Stippling of the epiphyses of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the 2nd toe bone UMLS:C4022368 doelkens 2010-06-24T09:58:18Z human_phenotype owl:Class HP:0012155 biolink:NamedThing Decreased corneal sensation Reduced ability of the cornea to respond to stimulation. tmpxe7fu0cj_hp_relaxed.owl Corneal hypaesthesia|Decreased corneal sensitivity|Reduced corneal sensation|Corneal hypesthesia UMLS:C0271292|UMLS:C0859996|SNOMEDCT_US:373433005 Corneal sensitivity to touch can be assessed by an aesthesiometer, which measures the corneal touch threshold. Decreased corneal sensation is associated with a decreased corneal reflex (HP:0008000); however, impairment of the corneal reflex can have other causes such as trigeminal nerve compression or a cerebellopontine angle lesion. Well known causes of decreased corneal sensation include Herpes simplex keratitis, neuroparalytic keratitis, leprosy, acoustic neuroma, and absolute glaucoma. hecht 2013-01-04T08:36:10Z human_phenotype owl:Class HP:0000059 biolink:NamedThing Hypoplastic labia majora Undergrowth of the outer labia. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped vaginal lips|Small labia majora|Hypoplasia of labia majora SNOMEDCT_US:289469003|UMLS:C0566899 owl:Class HP:0000066 biolink:NamedThing Labial hypoplasia tmpxe7fu0cj_hp_relaxed.owl Underdeveloped labia|Hypoplastic labia UMLS:C1850325 owl:Class GO:1904253 biolink:NamedThing positive regulation of bile acid metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:16997 biolink:NamedThing propane-1,2-diol The simplest member of the class of propane-1,2-diols, consisting of propane in which a hydrogen at position 1 and a hydrogen at position 2 are substituted by hydroxy groups. A colourless, viscous, hygroscopic, low-melting (-59degreeC) and high-boiling (188degreeC) liquid with low toxicity, it is used as a solvent, emulsifying agent, and antifreeze. tmpxe7fu0cj_hp_relaxed.owl CH3CH(OH)CH2OH|Propane-1,2-diol|methyl glycol|monopropylene glycol|Propylene glycol|HOCH2CH(OH)CH3|methylethylene glycol|HOCH2CH(OH)Me|alpha-propyleneglycol|methylethyl glycol|1,2-Propylenglykol|1,2-dihydroxypropane|MeCH(OH)CH2OH|PPD|1,2-Propanediol|isopropylene glycol|2-hydroxypropanol|propane-1,2-diol 0 C3H8O2 InChI=1S/C3H8O2/c1-3(5)2-4/h3-5H,2H2,1H3 DNIAPMSPPWPWGF-UHFFFAOYSA-N 76.09442 76.05243 CC(O)CO KEGG:D00078|HMDB:HMDB0001881|PPDB:1304|DrugBank:DB01839|PMID:15665701|Drug_Central:4024|KEGG:C00583|Reaxys:1340498|KNApSAcK:C00007410|PMID:18845115|CAS:57-55-6|PMID:21616561|LINCS:LSM-36856|Wikipedia:Propylene_glycol|PMID:16078503|VSDB:1304|PMID:18346395 CHEBI:8469|CHEBI:14899 chebi_ontology owl:Class CHEBI:26284 biolink:NamedThing propane-1,2-diols tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0002183 biolink:NamedThing Phonophobia An abnormally heightened sensitivity to loud sounds. tmpxe7fu0cj_hp_relaxed.owl Fear of loud sounds UMLS:C0751466|SNOMEDCT_US:313387002|MSH:D012001 Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Phonophobia is generally used to refer to discomfort caused by loud sounds rather than 'fear' of sounds as the etymology of the word might suggest. human_phenotype owl:Class GO:0060457 biolink:NamedThing negative regulation of digestive system process Any process that decreases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0012351 biolink:NamedThing Increased sialylation of N-linked protein glycosylation Increased addition of sialic acids to N-linked glycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022940 peter 2013-09-15T10:15:28Z human_phenotype owl:Class HP:0012349 biolink:NamedThing Abnormal sialylation of N-linked protein glycosylation An anomaly of the addition of sialic acids to N-linked glycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022942 The most common sialic acids is N-acetylneuraminic acid (Neu5Ac). peter 2013-09-15T10:08:34Z human_phenotype owl:Class GO:0070257 biolink:NamedThing positive regulation of mucus secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0051047 biolink:NamedThing positive regulation of secretion Any process that activates or increases the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. tmpxe7fu0cj_hp_relaxed.owl stimulation of secretion|up regulation of secretion|activation of secretion|up-regulation of secretion|upregulation of secretion biological_process owl:Class HP:0033291 biolink:NamedThing Glomerular karyhorrhectic debris Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 21:25:04+00:00 peter owl:Class HP:0002203 biolink:NamedThing Respiratory paralysis Inability to move the muscles of respiration. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:64228003|UMLS:C0035232|MSH:D012133 human_phenotype owl:Class UBERON:0001994 biolink:NamedThing hyaline cartilage tissue Cartilage tissue primarily composed of type II collagen (thin fibrils) and a glassy appearance. tmpxe7fu0cj_hp_relaxed.owl chondroid cartilage|hyaline cartilage FMA:64783|NCIT:C32746|EMAPA:35414|MA:0000109|XAO:0004029|UMLS:C0225362|VSAO:0000094 http://upload.wikimedia.org/wikipedia/commons/e/ee/Hypertrophic_Zone_of_Epiphyseal_Plate.jpg|http://upload.wikimedia.org/wikipedia/commons/2/2a/Gray292.png uberon owl:Class Cartilage tissue primarily composed of type II collagen (thin fibrils) and a glassy appearance.[VSAO]|Cartilage (tissue) which consists of chondrocytes and collagen, the intercellular matrix of which is an amorphous gel with a perichondrium[FMA:64783]. GO:0033162 biolink:NamedThing melanosome membrane The lipid bilayer surrounding a melanosome. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0100940 biolink:NamedThing Sclerosis of the distal phalanx of the 3rd toe An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the outermost bone of the 3rd toe UMLS:C4021918 human_phenotype owl:Class HP:0100927 biolink:NamedThing Sclerosis of 3rd toe phalanx An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Sclerosis of the phalanges of the 3rd toe|Increased bone density in 3rd toe bone UMLS:C4020929 human_phenotype owl:Class HP:0032723 biolink:NamedThing Focal aware motor seizure with dystonia A focal motor seizure with dystonia characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal motor aware seizure with dystonia peter owl:Class GO:0021563 biolink:NamedThing glossopharyngeal nerve development Various sensory and motor branches of the glossopharyngeal nerve supply nerve connections to the pharynx and back of the tongue. The branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion. tmpxe7fu0cj_hp_relaxed.owl cranial nerve 9 development|cranial nerve IX development|CN IX development biological_process owl:Class HP:0010263 biolink:NamedThing Ivory epiphyses of the middle phalanges of the hand Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the middle hand bones UMLS:C4023938 doelkens 2009-07-06T04:24:15Z human_phenotype owl:Class HP:0009996 biolink:NamedThing Partial duplication of the proximal phalanx of the 5th finger Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the innermost little finger bone|Partial duplication of the innermost pinkie finger bone|Partial duplication of the innermost pinky finger bone UMLS:C4024122 doelkens 2009-05-26T02:24:47Z human_phenotype owl:Class HP:0033603 biolink:NamedThing Glomerular subepithelial deposits Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 14:55:42+00:00 peter owl:Class HP:0100127 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the innermost bone of the 2nd toe UMLS:C4022294 doelkens 2010-06-24T10:06:29Z human_phenotype owl:Class HP:0001552 biolink:NamedThing Barrel-shaped chest A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. tmpxe7fu0cj_hp_relaxed.owl Barrel chest|Barrel-shaped chest UMLS:C0264172|SNOMEDCT_US:24228002 Barrel chest is often seen in persons with pulmonary emphysema or chronic obstructive pulmonary disease. HP:0001553|HP:0000781 human_phenotype owl:Class HP:0100004 biolink:NamedThing Pericardial mesothelioma A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart). tmpxe7fu0cj_hp_relaxed.owl NCIT:C3234|UMLS:C1335381 doelkens 2010-05-11T04:16:23Z owl:Class HP:0032094 biolink:NamedThing Increased circulating surfactant protein level An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis. tmpxe7fu0cj_hp_relaxed.owl Increased serum surfactant protein level 2018-11-04 10:03:02+00:00 SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. But the measure in the blood is not reliable, in this case the measurement in the broncho-alveolar lavage fluid is informative. peter owl:Class UBERON:0003429 biolink:NamedThing abdomen nerve A nerve that is part of an abdomen [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nerve of abdomen MA:0000521 uberon owl:Class HP:0031578 biolink:NamedThing Tessier number 6 facial cleft A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid. tmpxe7fu0cj_hp_relaxed.owl Tessier facial cleft number 6 2017-10-14 12:43:34+00:00 peter owl:Class HP:0009742 biolink:NamedThing Stiff shoulders Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity. tmpxe7fu0cj_hp_relaxed.owl Stiff shoulders UMLS:C0241042|SNOMEDCT_US:249918006 peter 2009-01-31T02:02:05Z human_phenotype owl:Class HP:0032377 biolink:NamedThing Increased urinary orosomucoid An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism. tmpxe7fu0cj_hp_relaxed.owl Increased urinary alpha-1-acid glycoprotein 2019-02-24 14:04:48+00:00 peter owl:Class HP:0009431 biolink:NamedThing Bullet-shaped middle phalanx of the 3rd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped middle bone of middle finger UMLS:C4024367 doelkens 2009-01-14T03:41:31Z human_phenotype owl:Class CL:2000000 biolink:NamedThing epidermal melanocyte Any melanocyte that is part of a epidermis. tmpxe7fu0cj_hp_relaxed.owl These cells are found primarily, but not exclusively, in primates including humans TermGenie 2014-02-03T23:03:09Z cell owl:Class CL:0002484 biolink:NamedThing epithelial melanocyte A melanocyte that produces pigment in the epithelium. tmpxe7fu0cj_hp_relaxed.owl The text defintion reference to the MP term appears to reference an epidermal melanocyte term. This term represents any melanocyte in any epithelium. tmeehan 2010-12-03T03:17:14Z cell owl:Class HP:0008583 biolink:NamedThing Underfolded superior helices A condition in which the superior portion of the helix is folded over to a lesser degree than normal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024655 human_phenotype owl:Class HP:0008577 biolink:NamedThing Underfolded helix Underdevelopment of the helix that either affects the entire helix, or is localized. tmpxe7fu0cj_hp_relaxed.owl Poorly folded helices UMLS:C1849735 Helix folding is highly variable, and the range is illustrated in Figures 29 and 30. To use this term, the affected area must be too long to be considered a Cleft helix. Underdevelopment of part of the helix can lead to the impression that the scaphal area is enlarged. human_phenotype owl:Class HP:0025019 biolink:NamedThing Arterial rupture Sudden breakage of an artery leading to leakage of blood from the circulation. tmpxe7fu0cj_hp_relaxed.owl 2016-08-12 12:03:50+00:00 HPO:probinson owl:Class HP:0033847 biolink:NamedThing Phantageusia A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment. tmpxe7fu0cj_hp_relaxed.owl Phantom taste 2021-06-01 16:48:29+00:00 In contrast to parageusia, phantageusia is not triggered by an environmental stimulus. peter owl:Class HP:0003383 biolink:NamedThing Onion bulb formation Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. tmpxe7fu0cj_hp_relaxed.owl Onion bulb formations|'Onion bulb' formations UMLS:C1847906 This feature is characteristic of chronic demyelinating neuropathies as well as certain hereditary neuropathies. Onion-bulb formation may be observed in electron microscopic examinations of peripheral nerve biopsy material. Often, this examination is performed on the sural nerve. HP:0008276|HP:0007013|HP:0007022|HP:0007084|HP:0003389 human_phenotype owl:Class UBERON:0003133 biolink:NamedThing reproductive organ An organ involved in reproduction. tmpxe7fu0cj_hp_relaxed.owl reproductive system organ|genital organ|genitalia|sex organ MESH:D005835|MA:0001752|EMAPA:17381|SCTID:128181006|TGMA:0000591|WBbt:0008422|OpenCyc:Mx4rwO39aJwpEbGdrcN5Y29ycA|UMLS:C0017420|EMAPA:37731|NCIT:C25177 uberon owl:Class GO uses genitalia for the singular organ UBERON:0018552 biolink:NamedThing lateral incisor tooth tmpxe7fu0cj_hp_relaxed.owl lateral incisor uberon owl:Class GO:0046878 biolink:NamedThing positive regulation of saliva secretion Any process that activates or increases the frequency, rate or extent of the regulated release of saliva. tmpxe7fu0cj_hp_relaxed.owl up regulation of saliva secretion|upregulation of saliva secretion|stimulation of saliva secretion|activation of saliva secretion|up-regulation of saliva secretion biological_process owl:Class HP:0100953 biolink:NamedThing Enlarged interhemispheric fissure tmpxe7fu0cj_hp_relaxed.owl Enlarged longitudinal fissure|Enlarged great longitudinal fissure|Enlarged longitudinal cerebral fissure UMLS:C4020920 doelkens 2011-12-02T04:49:49Z human_phenotype owl:Class HP:0012703 biolink:NamedThing Abnormal subarachnoid space morphology Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the subarachnoid space UMLS:C4022765 peter 2014-03-22T07:45:24Z owl:Class HP:0003969 biolink:NamedThing Slender forearm bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025471 human_phenotype owl:Class HP:0410060 biolink:NamedThing Decreased level of D-mannose in urine A decrease in the level of D-mannose in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-01-29 22:01:57+00:00 D-Mannose is the 2-epimer of glucose. ORCID:0000-0001-5208-3432 owl:Class HP:0000951 biolink:NamedThing Abnormality of the skin An abnormality of the skin. tmpxe7fu0cj_hp_relaxed.owl Dermatopathy|Abnormality of the skin|Skin abnormality|Dermopathy SNOMEDCT_US:95320005|UMLS:C0037268|SNOMEDCT_US:199879009|MSH:D012868|MSH:D012871|UMLS:C0037274 HP:0005591|HP:0007580|HP:0007415|HP:0001478|HP:0006736|HP:0001479 owl:Class HP:0012583 biolink:NamedThing Unilateral renal hypoplasia One sided hypoplasia of the kidney. tmpxe7fu0cj_hp_relaxed.owl Small kidney on one side|Underdeveloped kidney on one side SNOMEDCT_US:204948009|UMLS:C0431691 peter 2014-01-16T03:15:30Z human_phenotype owl:Class HP:0000089 biolink:NamedThing Renal hypoplasia Hypoplasia of the kidney. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic kidneys|Underdeveloped kidneys|Hypoplastic kidney|Small kidneys UMLS:C0266295|SNOMEDCT_US:32659003 Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal. HP:0004741|HP:0008641|HP:0001968 human_phenotype owl:Class HP:0012689 biolink:NamedThing Abnormal pineal melatonin secretion An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022777 The rhythm of melatonin synthesized in and released from the pineal gland is characterized by a prominent nocturnal peak, which also contains temporal information that had originated in the suprachiasmatic nucleus. Strong reductions of circulating melatonin are also observed in numerous disorders and diseases, including Alzheimer's disease, various other neurological and stressful conditions, pain, cardiovascular diseases, cases of cancer, endocrine and metabolic disorders, in particular diabetes type 2. peter 2014-03-22T01:16:40Z human_phenotype owl:Class HP:0011491 biolink:NamedThing Reduced number of corneal endothelial cells A reduction in the number of corneal endothelial cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023329 peter 2012-04-02T10:24:23Z human_phenotype owl:Class HP:0000471 biolink:NamedThing Gastrointestinal angiodysplasia Dysplasia affecting the vasculature of the gastrointestinal tract. tmpxe7fu0cj_hp_relaxed.owl GI angiodysplasia UMLS:C0854242 human_phenotype owl:Class HP:0008242 biolink:NamedThing Pseudohypoaldosteronism A state of renal tubular unresponsiveness or resistance to the action of aldosterone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0033805|MSH:D011546|SNOMEDCT_US:77098009 Pseudohypoaldosteronism is characterized by hyperkalemia, metabolic acidosis, and normal glomerular filtration rate. This term refers to the phenotypic finding of pseudohypoaldosteronism rather than the disease of idiopathic pseudohypoaldosteronism. HP:0008228 human_phenotype owl:Class HP:0011733 biolink:NamedThing Abnormality of adrenal physiology A functional abnormality of the adrenal glands. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023212 peter 2012-04-21T08:05:42Z HP:0002855 human_phenotype owl:Class HP:0040229 biolink:NamedThing Decreased level of thrombomodulin Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot tmpxe7fu0cj_hp_relaxed.owl BDCA-3 UMLS:C4255334 Requested and created by members of the BRIDGE consortium owl:Class HP:0012427 biolink:NamedThing Excessive femoral anteversion An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022909 Excessive femoral anteversion is a common cause of in-toeing that first presents in early childhood. peter 2013-11-12T10:51:07Z owl:Class HP:0032671 biolink:NamedThing Non-convulsive status epilepticus without coma A type of status epilepticus without prominent motor symptoms in the absence of coma. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0100582 biolink:NamedThing Nasal polyposis Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis. tmpxe7fu0cj_hp_relaxed.owl Polys of nose|Nasal polyps|Polyposis nasi SNOMEDCT_US:52756005|UMLS:C0027430|MSH:D009298 Nasal polyps (NP) are benign lesions arising from the mucosa of the nasal sinuses (commonly at the outflow tract of one or more of the sinuses) or from the mucosa of the nasal cavity. The main presenting symptom of NP is nasal obstruction which is constant but can vary depending on the site and size of the polyps. Sufferers will also frequently complain of watery rhinorrhea and postnasal drip. Anosmia or hyposmia with an ensuing alteration in taste are also characteristic symptoms of NP. doelkens 2010-12-27T02:47:15Z HP:0000462 owl:Class HP:0005013 biolink:NamedThing Dysplastic distal radial epiphyses Abnormally developed (dysplastic) distal epiphysis of the radius. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1862131 human_phenotype owl:Class HP:0025659 biolink:NamedThing Decreased circulating creatine kinase concentration A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0012100 biolink:NamedThing Abnormal circulating creatinine concentration An abnormal concentration of creatinine in the blood. tmpxe7fu0cj_hp_relaxed.owl Creatinine levels abnormal|Abnormal blood creatinine level|Abnormal circulating creatinine level UMLS:C4021101 hecht 2012-08-22T08:40:14Z owl:Class GO:0099081 biolink:NamedThing supramolecular polymer A polymeric supramolecular structure. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0030019 biolink:NamedThing Increased female libido Elevated sexual desire in female tmpxe7fu0cj_hp_relaxed.owl Increased female sex drive UMLS:C4022675 owl:Class HP:0046503 biolink:NamedThing Increased libido Elevated sexual desire. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0031084 biolink:NamedThing Excessive insulin response to glucagon test An abnormally high increase in insulin levels following a glucagon stimulation test. tmpxe7fu0cj_hp_relaxed.owl 2017-05-29 00:02:23+00:00 peter owl:Class HP:0410033 biolink:NamedThing Unilateral alveolar cleft of maxilla One sided alveolar cleft of the maxilla. tmpxe7fu0cj_hp_relaxed.owl 2017-06-20 23:37:01+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0031789 biolink:NamedThing Against the rule astigmatism Astigmatism with more plus power on the horizontal meridian. tmpxe7fu0cj_hp_relaxed.owl 2018-01-28 13:36:27+00:00 peter owl:Class HP:0040113 biolink:NamedThing Old-aged sensorineural hearing impairment tmpxe7fu0cj_hp_relaxed.owl Presbycusis SNOMEDCT_US:49526009|MSH:D011304|UMLS:C0033074 HPO:skoehler owl:Class HP:0002286 biolink:NamedThing Fair hair A lesser degree of hair pigmentation than would otherwise be expected. tmpxe7fu0cj_hp_relaxed.owl Light coloured hair|Fair hair|Light colored hair|Towhead (hair color)|Sandy hair colour|Fair hair colour|Sandy hair color|Flaxen hair color|Flaxen hair colour|Fair hair color|Blond hair|Straw colored hair|Straw coloured hair SNOMEDCT_US:297995004|UMLS:C1849221|UMLS:C0239801 For instance, in Angelman syndrome, reduced expression of the gene OCA2 is associated with light-colored hair and fair skin, such that affected children often have noticeably fairer hair than their unaffected relatives. HP:0002214|HP:0002294 human_phenotype owl:Class HP:0011358 biolink:NamedThing Generalized hypopigmentation of hair Reduced pigmentation of hair diffusely. tmpxe7fu0cj_hp_relaxed.owl Generalised hypopigmentation of hair UMLS:C4023400 peter 2012-03-01T03:32:59Z human_phenotype owl:Class HP:0005950 biolink:NamedThing Laryngeal web A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. tmpxe7fu0cj_hp_relaxed.owl Partial laryngeal atresia|Laryngeal webs UMLS:C0281890|SNOMEDCT_US:297159008 Manifestations may appear at any age (hoarse or weak voice and frequent upper respiratory infections) but onset usually occurs during infancy (respiratory distress, stridor and an unusual cry). human_phenotype owl:Class HP:0008293 biolink:NamedThing Long-chain dicarboxylic aciduria An increase in the level of long-chain dicarboxylic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1837273 owl:Class UBERON:0004854 biolink:NamedThing gastrointestinal system mesentery A mesentery that is part of a digestive system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mesentery of digestive system|mesentery of gastrointestinal system|digestive system mesentery MA:0001900|EMAPA:37068 uberon owl:Class GO:1904752 biolink:NamedThing regulation of vascular associated smooth muscle cell migration Any process that modulates the frequency, rate or extent of vascular associated smooth muscle cell migration. tmpxe7fu0cj_hp_relaxed.owl regulation of vascular smooth muscle cell migration rph 2015-10-19T15:49:52Z biological_process owl:Class HP:0005472 biolink:NamedThing Orbital craniosynostosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025192 human_phenotype owl:Class HP:0011288 biolink:NamedThing EEG with parietal sharp slow waves EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023428 peter 2012-02-11T12:29:59Z human_phenotype owl:Class GO:0000226 biolink:NamedThing microtubule cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. tmpxe7fu0cj_hp_relaxed.owl microtubule dynamics|microtubule cytoskeleton organisation|microtubule cytoskeleton organization and biogenesis biological_process owl:Class GO:0007017 biolink:NamedThing microtubule-based process Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0090022 biolink:NamedThing regulation of neutrophil chemotaxis Any process that modulates the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. tmpxe7fu0cj_hp_relaxed.owl tb 2009-08-03T10:09:34Z biological_process owl:Class HP:0031690 biolink:NamedThing Opportunistic infection An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 22:11:49+00:00 Opportunistic infection are infections that occur more often or are more severe in people with weakened immune systems than in those with normal immune system functioning. peter owl:Class HP:0030153 biolink:NamedThing Cholangiocarcinoma Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension. tmpxe7fu0cj_hp_relaxed.owl Bile duct cancer SNOMEDCT_US:312104005|MSH:D018281|NCIT:C3262|UMLS:C0206698|SNOMEDCT_US:70179006 owl:Class HP:0100574 biolink:NamedThing Biliary tract neoplasm A tumor (abnormal growth of tissue) of the biliary system. tmpxe7fu0cj_hp_relaxed.owl Neoplasia of the biliary tract NCIT:C3262|UMLS:C0005426|UMLS:C4020709|MSH:D001661|SNOMEDCT_US:126853008 doelkens 2010-12-21T05:18:27Z HP:0030152 human_phenotype owl:Class HP:0000099 biolink:NamedThing Glomerulonephritis Inflammation of the renal glomeruli. tmpxe7fu0cj_hp_relaxed.owl Glomerular nephritis UMLS:C0017658|SNOMEDCT_US:36171008|MSH:D005921 owl:Class HP:0006529 biolink:NamedThing Abnormal pulmonary lymphatics An abnormality of the pulmonary lymphatic chain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025026 owl:Class PR:P08920 biolink:NamedThing T-cell surface antigen CD2 (mouse) A CD2 molecule that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl mCD2|Cd2|T-cell surface antigen T11/Leu-5 (mouse)|LFA-2 (mouse)|LFA-3 receptor (mouse)|CD2 (mouse)|lymphocyte antigen 37 (mouse)|Ly-37 UniProtKB:P08920 Category=organism-gene. protein owl:Class HP:0012887 biolink:NamedThing Ovarian serous cystadenoma A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue. tmpxe7fu0cj_hp_relaxed.owl Serous ovarian cyst SNOMEDCT_US:119421006|UMLS:C0346170|UMLS:C4020715 Ovarian serous cystadenoma HAS a malignant potential several times greater than that of mucinous cystadenoma. It can be unilocular, parvilocular, or multilocular. It is often bilateral and papillary. The cysts may vary greatly in size. hecht 2014-06-11T09:32:06Z human_phenotype owl:Class UBERON:0003503 biolink:NamedThing leg blood vessel A blood vessel that is part of a leg [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl blood vessel of leg EMAPA:36500|MA:0000669 uberon owl:Class UBERON:0004714 biolink:NamedThing septum pellucidum A triangular double membrane, consisting of glial cells and fibers (Heimer, 1996) separating the anterior horns of the lateral ventricles of the brain. It is situated in the median plane and bounded by the corpus callosum and the body and columns of the fornix. tmpxe7fu0cj_hp_relaxed.owl septum pellucidum of telencephalic ventricle|pellucidum|lateral septum|septal pellucidum|septum lucidum|supracommissural septum|septum gliosum BAMS:spt|FMA:61844|UMLS:C0036700|BAMS:SptP|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=256|MESH:D012688|NCIT:C33536|BTO:0003448|BIRNLEX:1315|DHBA:12098|MA:0002979 http://upload.wikimedia.org/wikipedia/commons/4/4d/Gray732.png uberon owl:Class HP:0031621 biolink:NamedThing Anterior chamber flare grade 4+ Intense anterior chamber flare (fibrin/plastic aqueous). tmpxe7fu0cj_hp_relaxed.owl 2017-12-16 13:32:13+00:00 peter owl:Class GO:1904770 biolink:NamedThing intramembranous bone morphogenesis The developmental process by which an intramembranous bone is generated and organized. tmpxe7fu0cj_hp_relaxed.owl membrane bone morphogenesis|intramembranous bones morphogenesis dos 2015-10-28T11:46:04Z biological_process owl:Class UBERON:0010163 biolink:NamedThing eyebrow The eyebrow is an area of thick, delicate hairs above the eye that follows the shape of the lower margin of the brow ridges. Their main function is to protect the eye, but they are also important to human communication and facial expression. It is not uncommon for people to modify their eyebrows by means of hair addition or removal, make up, or piercings. tmpxe7fu0cj_hp_relaxed.owl supercilium FMA:54237|MESH:D005138|UMLS:C0015420|NCIT:C32575 Eyes:chris.jpg uberon owl:Class in NCIT, this is an 'eye appendage' CL:2000025 biolink:NamedThing spinal cord oligodendrocyte Any oligodendrocyte that is part of a spinal cord. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-06-25T00:23:50Z cell owl:Class CHEBI:35782 biolink:NamedThing diphosphate ion tmpxe7fu0cj_hp_relaxed.owl diphosphate ions|PPi CHEBI:35781|CHEBI:14177 chebi_ontology owl:Class UBERON:0005845 biolink:NamedThing caudal segment of spinal cord A spinal cord segment that adjacent_to a caudal region. tmpxe7fu0cj_hp_relaxed.owl segmenta coccygea|segmenta coccygea medullae spinalis [1-3]|pars coccygea medullae spinalis|coccygeal segment of spinal cord|coccygeal segments of spinal cord [1-3] MA:0003084|FMA:256635 for spinal cord segments, we treat coccygeal/caudal as synonyms - we only differentiate where bone is concerned uberon owl:Class HP:0006644 biolink:NamedThing Thoracic dysplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1406921 owl:Class UBERON:0014454 biolink:NamedThing visceral abdominal adipose tissue Subcutaneous adipose tissue that is located in the peritoneal cavity. tmpxe7fu0cj_hp_relaxed.owl intra-abdominal fat|visceral adipose tissue|intra-abdominal adipose tissue|organ fat|abdominal fat|visceral fat CALOHA:TS-2405|BTO:0004041 uberon owl:Class Adipose tissue located inside the peritoneal cavity, packed in between internal organs and torso. An excess of visceral fat is known as central obesity, or belly fat, the pot belly or beer belly effect, in which the abdomen protrudes excessively[BTO:0004041]. UBERON:0007808 biolink:NamedThing adipose tissue of abdominal region Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots. tmpxe7fu0cj_hp_relaxed.owl abdominal fat|abdominal adipose tissue|intra-abdominal fat CALOHA:TS-0002|EFO:0003771 uberon owl:Class HP:0008752 biolink:NamedThing Laryngeal cartilage malformation A malformation of the laryngeal cartilage. tmpxe7fu0cj_hp_relaxed.owl Vocal impairment, severe, due to laryngeal cartilage abnormalities UMLS:C4021530 HP:0008375 human_phenotype owl:Class HP:0003103 biolink:NamedThing Abnormal cortical bone morphology An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cortical bone|Abnormal compact bone morphology UMLS:C4021741 human_phenotype owl:Class CL:0002367 biolink:NamedThing trabecular meshwork cell A cell that lines the trabecular meshwork, which is an area of tissue in the eye located around the base of the cornea, near the ciliary body, and is responsible for draining the aqueous humor from the eye via the anterior chamber (the chamber on the front of the eye covered by the cornea). This cell may play a role in regulating intraocular pressure. tmpxe7fu0cj_hp_relaxed.owl trabeculocyte tmeehan 2010-09-23T04:18:50Z cell owl:Class UBERON:0005199 biolink:NamedThing cervical mammary gland A mammary gland that is part of a cervical region. tmpxe7fu0cj_hp_relaxed.owl MA:0000789 uberon owl:Class mice have a single pair of cervical mammary glands HP:0004099 biolink:NamedThing Macrodactyly Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. tmpxe7fu0cj_hp_relaxed.owl Finger overgrowth|Megalodactyly MSH:C562546|UMLS:C0265552|MEDDRA:10025386|SNOMEDCT_US:48449000 There are no recognized standards for the girth of digits and this finding can vary substantially in the population. This assessment relies on the judgment of the examiner to recognize when the difference between the expected and the observed is significant. The affected digits should be specified. The definition does not mandate the component of the increased size (bone, connective tissue, etc.), but should exclude edema. The requirement that the girth is most, or all, of the digit is intended to distinguish this from broad fingertips. This should be distinguished from Broad fingers or Broad fingertips as the girth is circumferential in macrodactyly, which is not the case for broad fingers or broad fingertips, which are increased only (or predominantly) in their lateral (A/P) width. human_phenotype owl:Class CL:0000809 biolink:NamedThing double-positive, alpha-beta thymocyte A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors. tmpxe7fu0cj_hp_relaxed.owl late cortical thymocyte|double-positive, alpha-beta immature T lymphocyte|DP cell|DP thymocyte Thymocytes of this stage are undergoing positive and negative selection. cell owl:Class CL:0010012 biolink:NamedThing cerebral cortex neuron A CNS neuron of the cerebral cortex. tmpxe7fu0cj_hp_relaxed.owl cortical neuron BTO:0004102|FMA:84104 cell owl:Class HP:0009708 biolink:NamedThing Synostosis involving the 5th metacarpal tmpxe7fu0cj_hp_relaxed.owl Fusion involving the 5th long bone of hand UMLS:C4024225 doelkens 2009-01-30T04:32:03Z human_phenotype owl:Class HP:0012771 biolink:NamedThing Increased arm span Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). tmpxe7fu0cj_hp_relaxed.owl Increased arm span UMLS:C4022729 peter 2014-04-07T03:10:35Z human_phenotype owl:Class HP:0012769 biolink:NamedThing Abnormal arm span A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) tmpxe7fu0cj_hp_relaxed.owl Abnormal arm span UMLS:C4022731 peter 2014-04-07T03:09:08Z human_phenotype owl:Class HP:0030939 biolink:NamedThing Palpebral thickening An increased thickness of the eyelid not related to acute inflammation. tmpxe7fu0cj_hp_relaxed.owl Thickened but nonswollen eyelids|Thick eyelids|Thickened eyelid|Eyelid thickening 2016-12-05 13:46:21+00:00 robinp owl:Class HP:0030381 biolink:NamedThing Increased proportion of transitional B cells An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. tmpxe7fu0cj_hp_relaxed.owl Increased proportion of CD19+CD38+IgM+ cells UMLS:C4072920 owl:Class GO:0007596 biolink:NamedThing blood coagulation The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. tmpxe7fu0cj_hp_relaxed.owl blood clotting Wikipedia:Coagulation biological_process owl:Class PATO:0001472 biolink:NamedThing decreased depth A depth which is relatively low. tmpxe7fu0cj_hp_relaxed.owl low depth|shallow PATO:0001692 quality owl:Class HP:0030489 biolink:NamedThing Abnormal paracentral response of multifocal electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072979 owl:Class HP:0007351 biolink:NamedThing Upper limb postural tremor A type of tremors that is triggered by holding an arm in a fixed position. tmpxe7fu0cj_hp_relaxed.owl Postural tremor of arms UMLS:C1867138 HP:0007297 human_phenotype owl:Class HP:0200085 biolink:NamedThing Limb tremor tmpxe7fu0cj_hp_relaxed.owl Tremor of limbs|Limb tremor|Involuntary shaking of limb UMLS:C0235081|MSH:D014202 sebastiankohler 2013-06-04T02:39:15Z human_phenotype owl:Class HP:0006492 biolink:NamedThing Aplasia/Hypoplasia of the fibula Absence or underdevelopment of the fibula. tmpxe7fu0cj_hp_relaxed.owl Absent/small calf bone|Absent/underdeveloped calf bone|Fibular aplasia/hypoplasia|Hypoplastic/aplastic fibulae UMLS:C1856732 peter 2008-03-28T06:03:00Z HP:0006421|HP:0005672 human_phenotype owl:Class HP:0005746 biolink:NamedThing Osteosclerosis of the base of the skull An increase in bone density affecting the basicranium (base of the skull). tmpxe7fu0cj_hp_relaxed.owl Osteosclerosis of the skull base UMLS:C4021624 Bundled term. Consider obsoleting it and splitting of osteosclerosis of base of skull. human_phenotype owl:Class HP:0003942 biolink:NamedThing Synovial chondromatosis of the elbow tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025492 human_phenotype owl:Class UBERON:0005289 biolink:NamedThing tela choroidea of telencephalic ventricle Tela chorioidea that lines the telencephalic ventricle. tmpxe7fu0cj_hp_relaxed.owl tela choroidea (ventriculi lateralis)|tela chorioidea telencephalic ventricle|tela chorioidea of lateral ventricle|tela choroidea of lateral ventricle|tela choroidea telencephalic ventricle|tela chorioidea of telencephalic ventricle ZFA:0005160|BAMS:tclv|TAO:0005160|FMA:83712 uberon owl:Class HP:0031339 biolink:NamedThing Abnormal cadiomyocyte dystrophin staining Anomalous staining of dystrophin in cardiomyocytes. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 13:42:50+00:00 Dystrophin, a 427-kD cytoskeletal protein, is a member of the beta-spectrin/alpha-actinin protein family. Dystrophin and the dystrophin-associated proteins (dystroglycans, sarcoglycans, sarcospan, dystrobrevin, and syntrophins) form a complex that is involved in contractile force transmission and stabilization of the plasma membrane. peter owl:Class UBERON:0001508 biolink:NamedThing arch of aorta The convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery. tmpxe7fu0cj_hp_relaxed.owl thoracic aorta|aortic arch|arcus aortae EHDAA2:0000132|SCTID:181300001|VHOG:0001196|GAID:471|EFO:0002526|EMAPA:17613|Wikipedia:Arch_of_aorta|FMA:3768|MA:0000475|BTO:0000157 Do not confuse with aortic arch http://upload.wikimedia.org/wikipedia/commons/e/e6/Gray506.svg uberon owl:Class The curving portion between the ascending aorta and the descending aorta, giving rise to the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery. [TFD][VHOG] The double systemic arch arches (left and right) present in amphibians and reptiles become reduced to a single systemic arch - the right in birds, the left in mammals.[well established][VHOG] birds have right aortic arch, mammals left. HP:0010874 biolink:NamedThing Tendon xanthomatosis The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). tmpxe7fu0cj_hp_relaxed.owl Tendon xanthomas UMLS:C0221253|SNOMEDCT_US:69880002 peter 2010-08-30T11:01:16Z human_phenotype owl:Class HP:0040082 biolink:NamedThing Happy demeanor A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context. tmpxe7fu0cj_hp_relaxed.owl Happy demeanour|Happy demeanor UMLS:C1856115 HPO:skoehler owl:Class HP:0011646 biolink:NamedThing Juxtaductal coarctation of the aorta Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023250 Juxtaductal coarctation usually presents when the ductus arteriosus closes. peter 2012-04-09T09:41:05Z human_phenotype owl:Class HP:0000224 biolink:NamedThing Hypogeusia A decreased ability to perceive flavor. tmpxe7fu0cj_hp_relaxed.owl Decreased taste|Decreased taste sensation SNOMEDCT_US:697990000|UMLS:C0151934|MSH:D000370 owl:Class NCBITaxon:2653789 biolink:NamedThing Whippomorpha tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0032322 biolink:NamedThing Healthy No history of any serious disease, including the disease being investigated in the proband. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 11:49:52+00:00 peter owl:Class HP:0010083 biolink:NamedThing Triangular shaped distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Triangular shaped outermost bone of the big toe UMLS:C4024062 doelkens 2009-05-29T12:16:28Z human_phenotype owl:Class HP:0011860 biolink:NamedThing Metaphyseal dappling The presence of spots or rounded patches of abnormally increased density of metaphyseal bone. tmpxe7fu0cj_hp_relaxed.owl Dappled metaphyseal sclerosis UMLS:C4020907 This finding is characteristic of Strudwick type of spondyloepimetaphyseal dysplasia. peter 2012-05-26T04:09:07Z human_phenotype owl:Class HP:0100451 biolink:NamedThing Curved distal phalanx of the 5th toe A deviation from the normal straight form of the distal phalanx of the fifth toe. tmpxe7fu0cj_hp_relaxed.owl Curved outermost bone of the pinky toe|Curved outermost bone of the little toe|Curved outermost bone of the pinkie toe UMLS:C4022076 human_phenotype owl:Class HP:0025079 biolink:NamedThing Pancreatic abscess A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas. tmpxe7fu0cj_hp_relaxed.owl Pancreas abscess 2016-09-26 11:01:28+00:00 HPO:probinson owl:Class HP:0009827 biolink:NamedThing Amelia Congenital absence (aplasia) of one or more limbs. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:62588002|MEDDRA:10001926|MSH:D004480|UMLS:C0002447 doelkens 2009-02-23T05:17:25Z human_phenotype owl:Class HP:0010750 biolink:NamedThing Dermatochalasis Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge. tmpxe7fu0cj_hp_relaxed.owl Extra eyelid skin|Droopy eyelid skin|Baggy eyes|Redundant eyelid skin|Hooding of eyelids|Eyelid dermatochalasia SNOMEDCT_US:246815009|UMLS:C2674149|UMLS:C0423124 sdoelken 2010-04-23T10:07:56Z human_phenotype owl:Class GO:0070232 biolink:NamedThing regulation of T cell apoptotic process Any process that modulates the occurrence or rate of T cell death by apoptotic process. tmpxe7fu0cj_hp_relaxed.owl regulation of T cell apoptosis|regulation of programmed cell death of T cells by apoptosis|regulation of T-cell apoptosis|regulation of T-lymphocyte apoptosis|regulation of T lymphocyte apoptosis biological_process owl:Class GO:0018130 biolink:NamedThing heterocycle biosynthetic process The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). tmpxe7fu0cj_hp_relaxed.owl heterocycle anabolism|heterocycle biosynthesis|heterocycle formation|heterocycle synthesis biological_process owl:Class HP:0002826 biolink:NamedThing Halberd-shaped pelvis An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle). tmpxe7fu0cj_hp_relaxed.owl Halberd-shaped pelvis bone UMLS:C3277119 human_phenotype owl:Class GO:0045821 biolink:NamedThing positive regulation of glycolytic process Any process that activates or increases the frequency, rate or extent of glycolysis. tmpxe7fu0cj_hp_relaxed.owl up regulation of glycolysis|up-regulation of glycolysis|upregulation of glycolysis|stimulation of glycolysis|activation of glycolysis biological_process owl:Class HP:0025126 biolink:NamedThing Oral hairy leukoplakia A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance. tmpxe7fu0cj_hp_relaxed.owl 2016-11-14 02:15:28+00:00 HPO:probinson owl:Class HP:0025125 biolink:NamedThing White lesion of the oral mucosa White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white. tmpxe7fu0cj_hp_relaxed.owl 2016-11-14 02:08:04+00:00 HPO:probinson owl:Class HP:0031235 biolink:NamedThing Predominantly epidermal neutrophilic infiltrate Collection of neutrophils in the epidermis. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 19:36:13+00:00 This feature can be seen in a variety of conditions ranging from inflammatory dermatosis like psoriasis, neonatal disorders e.g. transient neonatal pustular melanosis to neoplasms viz. keratoacanthoma. peter owl:Class HP:0100464 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the innermost bone of the 3rd toe UMLS:C4022063 human_phenotype owl:Class HP:0009026 biolink:NamedThing Hypoplasia of latissimus dorsi muscle Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3805860 human_phenotype owl:Class HP:0009131 biolink:NamedThing Abnormality of the musculature of the thorax A disease or lesion affecting the muscles of the thorax. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024580 peter 2008-04-07T05:06:00Z human_phenotype owl:Class HP:0500162 biolink:NamedThing Decreased level of carnosine in blood A decreased amount of carnosine in bood. tmpxe7fu0cj_hp_relaxed.owl Decreased blood carnosine concentration|Low blood carnosine levels 2018-10-05 16:11:06+00:00 owl:Class UBERON:0011590 biolink:NamedThing commissure of diencephalon A commissure that is part of a diencephalon. tmpxe7fu0cj_hp_relaxed.owl diencephalon commissure FMA:62445 uberon owl:Class CHEBI:58163 biolink:NamedThing homocystine zwitterion Dizwitterionic form of homocystine arising from transfer of two protons from the carboxy to the amino groups; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl 4,4'-disulfanediylbis(2-azaniumylbutanoate)|homocystine dizwitterion|4,4'-disulfanediylbis(2-ammoniobutanoate) 0 C8H16N2O4S2 InChI=1S/C8H16N2O4S2/c9-5(7(11)12)1-3-15-16-4-2-6(10)8(13)14/h5-6H,1-4,9-10H2,(H,11,12)(H,13,14) ZTVZLYBCZNMWCF-UHFFFAOYSA-N 268.356 268.05515 C(C(CCSSCCC(C(=O)[O-])[NH3+])[NH3+])([O-])=O chebi_ontology owl:Class PATO:0001511 biolink:NamedThing non-functional A disfunctional quality held by the bearer when the latter is unable to perform a regular function(s). tmpxe7fu0cj_hp_relaxed.owl failure|disfunctional|defective|functional failure PATO:0001640 quality owl:Class UBERON:0009603 biolink:NamedThing right lung associated mesenchyme Mesenchyme that is part of a developing right lung. tmpxe7fu0cj_hp_relaxed.owl right lung mesenchyme EHDAA2:0001739|EMAPA:17662 uberon owl:Class HP:0031391 biolink:NamedThing Elevated MHC II surface expression An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 17:02:46+00:00 peter owl:Class HP:0005541 biolink:NamedThing Congenital agranulocytosis Congenital onset of a marked decrease in the number of granulocytes. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:89655007|MSH:C537592|UMLS:C1853118 human_phenotype owl:Class HP:0008305 biolink:NamedThing Exercise-induced myoglobinuria Presence of myoglobin in the urine following exercise. tmpxe7fu0cj_hp_relaxed.owl Exercise-induced myoglobinuria in adults UMLS:C1860069|UMLS:C1845155 HP:0008319 human_phenotype owl:Class HP:0009845 biolink:NamedThing Bullet-shaped middle phalanges of the hand Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024187 doelkens 2009-03-11T12:15:55Z HP:0006038 human_phenotype owl:Class HP:0001417 biolink:NamedThing X-linked inheritance A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. tmpxe7fu0cj_hp_relaxed.owl X-linked|X-linked form SNOMEDCT_US:263934009|UMLS:C0241764|MSH:D050172 HP:0001418 human_phenotype owl:Class HP:0010985 biolink:NamedThing Gonosomal inheritance A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023613 peter 2011-02-08T10:16:28Z human_phenotype owl:Class HP:0012239 biolink:NamedThing Atransferrinemia Absence of transferrin, a protein that transports iron, in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0521802|SNOMEDCT_US:111571009|MSH:C538259 peter 2013-03-31T04:20:43Z human_phenotype owl:Class HP:0005360 biolink:NamedThing Susceptibility to chickenpox Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855205 human_phenotype owl:Class HP:0040154 biolink:NamedThing Acne inversa A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses. tmpxe7fu0cj_hp_relaxed.owl Verneuil's disease|Smoker's boils|Pyoderma fistulans significa|Hidradenitis suppurativa SNOMEDCT_US:59393003|MSH:D017497|UMLS:C0162836 HPO:skoehler owl:Class HP:0033029 biolink:NamedThing Anti-Jo-1 antibody positivity The presence of autoantibodies in the serum that react to the histidyl-tRNA-synthetase. tmpxe7fu0cj_hp_relaxed.owl Histidyl-tRNA synthetase (HRS = Jo-1) represents a key autoantibody target in the anti-synthetase syndrome that is marked by myositis as well as extra-muscular organ complications including interstitial lung disease (ILD). peter owl:Class UBERON:0035383 biolink:NamedThing lateral wall of nasopharynx tmpxe7fu0cj_hp_relaxed.owl lateral nasopharynx FMA:54908|NCIT:C12244 uberon owl:Class HP:0007626 biolink:NamedThing Mandibular osteomyelitis Osteomyelitis of the lower jaw. tmpxe7fu0cj_hp_relaxed.owl Osteomyelitis, especially of the mandible|Lower jaw bone infection UMLS:C1290708|SNOMEDCT_US:109695005 HP:0005869 human_phenotype owl:Class HP:0002754 biolink:NamedThing Osteomyelitis Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. tmpxe7fu0cj_hp_relaxed.owl Bone infection MSH:D010019|SNOMEDCT_US:60168000|UMLS:C0029443|SNOMEDCT_US:111253001|UMLS:C2242472 Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents. HP:0002755|HP:0005901 human_phenotype owl:Class GO:0030890 biolink:NamedThing positive regulation of B cell proliferation Any process that activates or increases the rate or extent of B cell proliferation. tmpxe7fu0cj_hp_relaxed.owl stimulation of B cell proliferation|positive regulation of B lymphocyte proliferation|positive regulation of B-lymphocyte proliferation|positive regulation of B-cell proliferation|up-regulation of B cell proliferation|up regulation of B cell proliferation|activation of B cell proliferation|upregulation of B cell proliferation biological_process owl:Class GO:0050871 biolink:NamedThing positive regulation of B cell activation Any process that activates or increases the frequency, rate or extent of B cell activation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of B-cell activation|activation of B cell activation|up-regulation of B cell activation|up regulation of B cell activation|upregulation of B cell activation|stimulation of B cell activation|positive regulation of B lymphocyte activation|positive regulation of B-lymphocyte activation biological_process owl:Class HP:0031223 biolink:NamedThing Focal pancreatic islet hyperplasia Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 12:06:09+00:00 peter owl:Class UBERON:0010032 biolink:NamedThing anterior part of tongue The portion of the tongue in front of the terminal sulcus. At the apex, thin and narrow, it is directed forward against the lingual surfaces of the lower incisor teeth. It is derived primarily from the first pharyngeal arch. tmpxe7fu0cj_hp_relaxed.owl oral part of the tongue|anterior 2/3 of the tongue|apex of the tongue|anterior 2/3 of tongue|anterior two thirds of the tongue|pars anterior dorsi linguae|buccal part of the tongue|front of the tongue|apex linguae NCIT:C32130|FMA:229084|Wikipedia:Anterior_tongue|EMAPA:37437|UMLS:C0226946 Illu04:tongue.jpg uberon owl:Class The lateral lingual swellings grow and fuse with eachother, encompassing the tuberculum impar to provide the ectodermally derived mucosa of the anterior 2/3 of the tongue check NCIT HP:0030900 biolink:NamedThing Pruritus on foot Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot. tmpxe7fu0cj_hp_relaxed.owl Itchy foot|Itchy feet owl:Class GO:0045224 biolink:NamedThing positive regulation of CD4 production Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of CD4. tmpxe7fu0cj_hp_relaxed.owl positive regulation of CD4 biosynthesis|activation of CD4 biosynthetic process|up regulation of CD4 biosynthetic process|up-regulation of CD4 biosynthetic process|positive regulation of CD4 biosynthetic process|upregulation of CD4 biosynthetic process|positive regulation of CD4 synthesis|stimulation of CD4 biosynthetic process|positive regulation of CD4 anabolism|positive regulation of CD4 formation biological_process owl:Class CL:0000169 biolink:NamedThing type B pancreatic cell A cell that secretes insulin and is located towards the center of the islets of Langerhans. tmpxe7fu0cj_hp_relaxed.owl B-cell of pancreatic islet|beta cell islet|beta cell of pancreatic islet|insulin-secreting cell|pancreatic B-cell|type B enteroendocrine cell|beta cell|pancreatic B cell|pancreatic islet core|pancreatic beta cell MA:0002419|EV:0200009|BTO:0000783|ncithesaurus:Beta_Cell|FMA:70586 Pancreatic beta cells are also reportedly CD284-positive. Upon activation, they upregulate their CD14 expression. cell owl:Class HP:0010109 biolink:NamedThing Short hallux Underdevelopment (hypoplasia) of the big toe. tmpxe7fu0cj_hp_relaxed.owl Short big toe|Short halluces|Small hallux|Hypoplastic big toes|Hypoplastic hallux UMLS:C1865992 doelkens 2009-05-29T12:46:14Z HP:0005610|HP:0001861|HP:0008105|HP:0001843 human_phenotype owl:Class HP:0008362 biolink:NamedThing Aplasia/Hypoplasia of the hallux Absence or underdevelopment of the big toe. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped big toe|Aplastic/hypoplastic halluces|Absent/small big toe UMLS:C1836213 peter 2008-04-04T11:33:00Z HP:0008118|HP:0004694|HP:0008126 human_phenotype owl:Class HP:0034082 biolink:NamedThing Anti-bicaudal D2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2. tmpxe7fu0cj_hp_relaxed.owl Anti-BICD2 antibody positivity 2021-12-19 02:31:17+00:00 peter owl:Class HP:0010612 biolink:NamedThing Plantar pits The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1852301 sandra1 2009-10-28T01:25:57Z human_phenotype owl:Class GO:0016772 biolink:NamedThing transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). tmpxe7fu0cj_hp_relaxed.owl EC:2.7.-.- Note that this term encompasses all kinase activities, as well as activities that transfer other phosphorus-containing groups such as diphosphate or nucleotides. molecular_function owl:Class HP:0033410 biolink:NamedThing Elevated circulating cartilage oligomeric matrix protein concentration An increased blood concentration of cartilage oligomeric matrix protein (COMP). tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 16:18:45+00:00 Cartilage oligomeric matrix protein (sCOMP) is physiologically located in the extracellular matrix (ECM) of cartilage tissue. It is assumed that sCOMP changes reflect the extrusion of COMP fragments of loaded cartilage tissue. peter owl:Class GO:1903053 biolink:NamedThing regulation of extracellular matrix organization Any process that modulates the frequency, rate or extent of extracellular matrix organization. tmpxe7fu0cj_hp_relaxed.owl regulation of extracellular matrix organisation|regulation of extracellular matrix organization and biogenesis rl 2014-05-23T17:15:41Z biological_process owl:Class HP:0410242 biolink:NamedThing Abnormal circulating IgG level An abnormal deviation from normal levels of IgG immunoglobulin in blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal IgG level in blood 2018-10-12 20:32:38+00:00 owl:Class HP:0100610 biolink:NamedThing Maternal hyperphenylalaninemia A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy. tmpxe7fu0cj_hp_relaxed.owl High blood phenylalanine level in mother UMLS:C4022014 doelkens 2010-12-27T06:17:13Z human_phenotype owl:Class HP:0001563 biolink:NamedThing Fetal polyuria Abnormally increased production of urine by the fetus resulting in polyhydramnios. tmpxe7fu0cj_hp_relaxed.owl Foetal polyuria UMLS:C1865279 The fetal urine production rate can be measured by ultrasonography. owl:Class HP:0031777 biolink:NamedThing Cyclophoria A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation. tmpxe7fu0cj_hp_relaxed.owl 2018-01-27 11:40:02+00:00 peter owl:Class CHEBI:25216 biolink:NamedThing metalloporphyrin tmpxe7fu0cj_hp_relaxed.owl metaloporphyrins|metalloporphyrins chebi_ontology owl:Class HP:0010669 biolink:NamedThing Hypoplasia of the zygomatic bone Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. tmpxe7fu0cj_hp_relaxed.owl Depressed cheekbone|Underdevelopment of cheekbone|Flattening of the zygomatic bone|Hypoplasia of cheekbone|Decreased size of zygomatic bone|Hypotrophic cheekbone|Hypotrophic zygomatic bone|Small zygomatic bone|Decreased size of cheekbone|Hypotrophy of the cheekbone|Underdevelopment of zygomatic bone|Depressed zygomatic bone|Cheekbone underdevelopment|Small cheekbone|Small malar bone|Hypotrophy of the zygomatic bone UMLS:C4072879|UMLS:C4021242|UMLS:C4280370|UMLS:C4280368|UMLS:C4280369 peter 2010-02-26T08:14:04Z human_phenotype owl:Class HP:0005210 biolink:NamedThing Hypoplastic colon Underdevelopment of the colon. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of the colon|Underdeveloped colon UMLS:C1392839 human_phenotype owl:Class HP:0000188 biolink:NamedThing Short upper lip Decreased width of the upper lip. tmpxe7fu0cj_hp_relaxed.owl Shortening of upper lip|Decreased upper labial height|Decreased vertical length of upper lip|Short upper lip|Vertical deficiency of upper lip|Decreased upper labial length|Decreased height of upper lip UMLS:C1848977 HP:0200087 human_phenotype owl:Class HP:0030980 biolink:NamedThing Reduced brain glutamine level by MRS An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl 2017-05-05T09:56:23Z HPO:probinson owl:Class HP:0004704 biolink:NamedThing Short fifth metatarsal Short (hypoplastic) fifth metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of the fifth metatarsal bone|Short 5th long bone of foot UMLS:C4021649 HP:0004702|HP:0010671 human_phenotype owl:Class PR:000001753 biolink:NamedThing transcription factor NF-kappa-B subunit A protein with a core domain composition consisting of a Rel homology domain (RHD) (Pfam:PF00554), an IPT/TIG domain (Pfam:PF01833), six copies of the Ankyrin repeat (Pfam:PF00023), a Death domain (Pfam:PF00531) and a C-terminal PEST region. tmpxe7fu0cj_hp_relaxed.owl transcription factor NF-kappa-B PIRSF:PIRSF036310 Category=family. protein owl:Class HP:0010503 biolink:NamedThing Fibular duplication Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition. tmpxe7fu0cj_hp_relaxed.owl Duplicated calf bone UMLS:C3276742 peter 2009-09-19T09:45:58Z human_phenotype owl:Class CL:0017500 biolink:NamedThing neutrophillic cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2010-05-25T01:36:34Z cell owl:Class HP:0002366 biolink:NamedThing Abnormal lower motor neuron morphology Any structural anomaly of the lower motor neuron. tmpxe7fu0cj_hp_relaxed.owl Lower motor neuron signs|Lower motor neuron disease|Lower motor neuron manifestations UMLS:C1865412 previous def: 'has part' some (quality and ('inheres in' some 'Lower motor neuron (adult human)') and ('has modifier' some abnormal)) HP:0007276 human_phenotype owl:Class HP:0002450 biolink:NamedThing Abnormal motor neuron morphology Any structural anomaly that affects the motor neuron. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of motor neuron UMLS:C4025707 human_phenotype owl:Class CHEBI:30860 biolink:NamedThing methylmalonic acid A dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group. tmpxe7fu0cj_hp_relaxed.owl 1,1-Ethanedicarboxylic acid|2-methylmalonic acid|Isosuccinic acid|alpha-methylmalonic acid|Methylmalonic acid|METHYLMALONIC ACID|methylpropanedioic acid 0 C4H6O4 InChI=1S/C4H6O4/c1-2(3(5)6)4(7)8/h2H,1H3,(H,5,6)(H,7,8) ZIYVHBGGAOATLY-UHFFFAOYSA-N 118.08804 118.02661 CC(C(O)=O)C(O)=O PMID:22377700|PMID:22770225|PMID:21478039|PMID:21687976|PMID:22424943|Beilstein:1756084|PMID:21802231|PMID:22422209|PMID:22537172|PMID:11673368|Gmelin:50008|PMID:17190852|PMID:21748409|Wikipedia:Methylmalonic_acid|PMID:22509143|KEGG:C02170|Reaxys:1756084|MetaCyc:CPD-546|CAS:516-05-2|PDBeChem:DXX|PMID:22301932|PMID:21896502|PMID:22332180|LIPID_MAPS_instance:LMFA01170118|DrugBank:DB04183|PMID:22233538|HMDB:HMDB0000202|PMID:22104738|PMID:21652239|PMID:15770414 CHEBI:6881|CHEBI:42270|CHEBI:25319 chebi_ontology owl:Class HP:0004632 biolink:NamedThing Cervical segmentation defect An abnormality related to a defect of vertebral separation of cervical vertebrae during development. tmpxe7fu0cj_hp_relaxed.owl Cervical spine segmentation defect UMLS:C1862415 HP:0004612 human_phenotype owl:Class GO:0046951 biolink:NamedThing ketone body biosynthetic process The chemical reactions and pathways resulting in the formation of ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone. Biosynthesis involves the formation of hydroxymethylglutaryl-CoA, which is cleaved to acetate and acetyl-CoA. tmpxe7fu0cj_hp_relaxed.owl ketone body formation|ketone body anabolism|ketone body synthesis|ketone body biosynthesis biological_process owl:Class HP:0041188 biolink:NamedThing Fractured proximal phalanx of manual digit 1 A partial or complete breakage of the proximal phalanx of manual digit 1. tmpxe7fu0cj_hp_relaxed.owl bone proximal phalanx of manual digit 1 owl:Class HP:0012107 biolink:NamedThing Increased fibular diameter Increased width of the cross sectional diameter of the fibula. tmpxe7fu0cj_hp_relaxed.owl Thick fibula|Wide calf bone|Wide fibula|Thick fibulae UMLS:C4021100 peter 2012-09-08T04:03:50Z HP:0200082 human_phenotype owl:Class GO:1904204 biolink:NamedThing regulation of skeletal muscle hypertrophy Any process that modulates the frequency, rate or extent of skeletal muscle hypertrophy. tmpxe7fu0cj_hp_relaxed.owl sl 2015-05-08T17:38:13Z biological_process owl:Class UBERON:0003439 biolink:NamedThing nerve of trunk region A nerve that is part of the trunk region of the body (not to be confused with a nerve trunk). tmpxe7fu0cj_hp_relaxed.owl nerve of torso|nerve of trunk|torso nerve|trunk nerve MA:0000515|EMAPA:37264 uberon owl:Class HP:0032145 biolink:NamedThing Sural nerve atrophy Wasting of the sural nerve, a sensory nerve in the calf region of the leg. tmpxe7fu0cj_hp_relaxed.owl Atrophy of sural nerve 2018-11-22 16:26:37+00:00 peter owl:Class UBERON:0003312 biolink:NamedThing mesenchyme of testis Mesenchyme that is part of a developing testis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl testis mesenchyme EMAPA:35858|VHOG:0001442|EHDAA2:0002010|EHDAA:8150 uberon owl:Class GO:0044087 biolink:NamedThing regulation of cellular component biogenesis Any process that modulates the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1905384 biolink:NamedThing regulation of protein localization to presynapse Any process that modulates the frequency, rate or extent of protein localization to presynapse. tmpxe7fu0cj_hp_relaxed.owl regulation of protein localisation to presynapse|regulation of recruitment of presynaptic proteins|regulation of protein localisation in presynapse|regulation of protein localization in presynapse dos 2016-08-18T14:56:00Z biological_process owl:Class HP:0000362 biolink:NamedThing Otosclerosis In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss. tmpxe7fu0cj_hp_relaxed.owl MSH:D010040|UMLS:C0029899|SNOMEDCT_US:11543004 Otosclerosis cannot be seen on an office examination. The audiogram indicates a conductive type of hearing loss. Testing of the stapedial reflexes indicates limited or no movement of the bones of hearing. human_phenotype owl:Class UBERON:0007301 biolink:NamedThing appendage blood vessel A blood vessel that is part of a limb/fin. tmpxe7fu0cj_hp_relaxed.owl limb blood vessel|fin blood vessel ZFA:0005299|TAO:0005299 uberon owl:Class GO:0031337 biolink:NamedThing positive regulation of sulfur amino acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. tmpxe7fu0cj_hp_relaxed.owl stimulation of sulfur amino acid metabolic process|upregulation of sulfur amino acid metabolic process|up regulation of sulfur amino acid metabolic process|up-regulation of sulfur amino acid metabolic process|positive regulation of sulfur amino acid metabolism|activation of sulfur amino acid metabolic process biological_process owl:Class HP:0008706 biolink:NamedThing Distal urethral duplication tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024634 human_phenotype owl:Class HP:0033133 biolink:NamedThing Renal cortical hypoechogeneity tmpxe7fu0cj_hp_relaxed.owl Hypoechogenic renal cortex 2020-09-09 13:03:25+00:00 peter owl:Class HP:0033130 biolink:NamedThing Abnormal renal echogenicity Anomalous echogenicity of the kidney on ultrasound examination. tmpxe7fu0cj_hp_relaxed.owl 2020-09-09 12:48:13+00:00 For diagnostic ultrasonography, high-frequency sound waves are generated and received by the ultrasonography transducer, which is placed on the skin. Returning sound waves (echoes) are processed by a computer and displayed on a computer screen. A gray-scale image is produced when the ultrasonography machine operates in B-mode, or brightness mode, in which returning echoes are represented as bright dots; the brightness of the dots represents the strength of the reflected echoes. Echogenicity, therefore, refers to how bright or dark something appears in the gray-scale image; the brighter something appears, the more echogenic it is. With regard to the kidney, echogenicity generally refers to how bright or dark the kidney parenchyma appears in comparison to the liver. peter owl:Class HP:0001119 biolink:NamedThing Keratoglobus Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3887531 human_phenotype owl:Class UBERON:0002017 biolink:NamedThing portal vein A vein that conducts blood from the digestive organs, spleen, pancreas, and gallbladder to the liver[BTO]. tmpxe7fu0cj_hp_relaxed.owl portal venous tree organ part MA:0002198|CALOHA:TS-0814|BTO:0001792|OpenCyc:Mx4rv_bem5wpEbGdrcN5Y29ycA|FMA:66645|MESH:D011169|galen:PortalVein|EHDAA:6510|EMAPA:17349|GAID:540|XAO:0000392|NCIT:C33343|EHDAA2:0001485|VHOG:0000656|UMLS:C0032718 http://upload.wikimedia.org/wikipedia/commons/3/33/Gray591.png uberon owl:Class HP:0003811 biolink:NamedThing Neonatal death Death within the first 28 days of life. tmpxe7fu0cj_hp_relaxed.owl Neonatal lethal MSH:D066087|SNOMEDCT_US:276506001|UMLS:C0410916 HP:0003824|HP:0003820 human_phenotype owl:Class UBERON:0011322 biolink:NamedThing mylohyoid nerve A nerve that innervates the mylohyoid muscle and the anterior belly of the digastric muscle. tmpxe7fu0cj_hp_relaxed.owl mylohyoid branch of inferior alveolar nerve|nerve to mylohyoid|mylodigastric nerve|branch of inferior alveolar nerve to mylohyoid|nervus mylohyoideus BAMS:myhy|FMA:53247 uberon owl:Class HP:0009601 biolink:NamedThing Aplasia/Hypoplasia of the thumb Hypoplastic/small or absent thumb. tmpxe7fu0cj_hp_relaxed.owl Absent/hypoplastic thumbs|Hypoplastic to aplastic thumbs|Absent/small thumb|Aplastic/hypoplastic thumbs|Hypoplastic/absent thumb|Thumb aplasia/hypoplasia|Absent/underdeveloped thumb|Absent or hypoplastic thumbs|Aplasia/hypoplasia of thumbs|Absent/hypoplastic thumb MSH:C536903|UMLS:C3179508 doelkens 2009-01-29T01:08:24Z HP:0002950|HP:0006225 human_phenotype owl:Class HP:0033024 biolink:NamedThing Transient decreased circulating IgA A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0000489 biolink:NamedThing cavitated compound organ Compound organ that contains one or more macroscopic anatomical spaces. tmpxe7fu0cj_hp_relaxed.owl cavitated organ|cavitated compound organs AEO:0000072|XAO:0003165|HAO:0000072|TGMA:0001857|FMA:55671|ZFA:0001490|VHOG:0001730|EHDAA2:0003072|AAO:0010016|CARO:0000072|BILA:0000072|TAO:0001490 this class was introduced for consistency with CARO, however, it has yet to be used in this or other ontologies. It may be retired in the future uberon owl:Class HP:0032138 biolink:NamedThing Decreased circulating IgG4 level A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased IgG4 level in blood 2018-11-22 14:29:39+00:00 peter owl:Class HP:5000005 biolink:NamedThing Anti-CASPR2 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2). tmpxe7fu0cj_hp_relaxed.owl Anti-contactin-associated protein-like 2 antibody|Anti-Caspr2 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0033688 biolink:NamedThing Long term memory impairment A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that). tmpxe7fu0cj_hp_relaxed.owl Long term memory loss 2021-03-07 22:48:25+00:00 peter owl:Class HP:0007307 biolink:NamedThing Rapid neurologic deterioration tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024908 owl:Class HP:0002344 biolink:NamedThing Progressive neurologic deterioration tmpxe7fu0cj_hp_relaxed.owl Progressive neurodegeneration|Neurologic deterioration|Progressive mental deterioration|Worsening neurological symptoms|Neurologic deterioration, progressive UMLS:C1854838 owl:Class GO:0044247 biolink:NamedThing cellular polysaccharide catabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0045638 biolink:NamedThing negative regulation of myeloid cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid cell differentiation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of myeloid cell differentiation|down regulation of myeloid cell differentiation|downregulation of myeloid cell differentiation|inhibition of myeloid cell differentiation biological_process owl:Class HP:0033332 biolink:NamedThing Elevated circulating amyloid A An increased concentration of serum amyloid A in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 16:37:12+00:00 peter owl:Class HP:0009178 biolink:NamedThing Symphalangism of middle phalanx of 5th finger Fusion of the middle phalanx of the 5th finger with another bone. tmpxe7fu0cj_hp_relaxed.owl Fused middle bones of pinky finger|Fused middle bones of little finger|Fused middle bones of pinkie finger UMLS:C4024554 peter 2008-12-29T03:17:43Z human_phenotype owl:Class HP:0009257 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 4th finger A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024490 doelkens 2009-01-07T12:07:34Z human_phenotype owl:Class UBERON:0004262 biolink:NamedThing upper leg skin A zone of skin that is part of a hindlimb stylopod [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl thigh skin|hindlimb stylopod skin|hind limb stylopod skin|skin of thigh|skin of upper leg EMAPA:18159|MA:0000686|FMA:37790 uberon owl:Class GO:0006165 biolink:NamedThing nucleoside diphosphate phosphorylation The process of introducing a phosphate group into a nucleoside diphosphate to produce a nucleoside triphosphate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0009132 biolink:NamedThing nucleoside diphosphate metabolic process The chemical reactions and pathways involving a nucleoside diphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with diphosphate on the sugar. tmpxe7fu0cj_hp_relaxed.owl nucleoside diphosphate metabolism biological_process owl:Class HP:0007985 biolink:NamedThing Retinal arteriolar occlusion Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. tmpxe7fu0cj_hp_relaxed.owl Blocked retinal artery UMLS:C4024761 human_phenotype owl:Class PR:P10810 biolink:NamedThing monocyte differentiation antigen CD14 (mouse) A CD14 molecule that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl CD14 (mouse)|myeloid cell-specific leucine-rich glycoprotein (mouse)|Cd14|mCD14 UniProtKB:P10810 Category=organism-gene. protein owl:Class UBERON:0003617 biolink:NamedThing trachea elastic tissue An elastic tissue that is part of a trachea [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl vertebrate trachea elastic connective tissue|windpipe textus connectivus elasticus|vertebrate trachea elastic tissue|cartilaginous trachea textus connectivus elasticus|windpipe elastic connective tissue|elastic tissue of cartilaginous trachea|cartilaginous trachea elastic connective tissue|vertebrate trachea textus connectivus elasticus|elastic connective tissue of vertebrate trachea|windpipe elastic tissue|textus connectivus elasticus of windpipe|elastic connective tissue of cartilaginous trachea|textus connectivus elasticus of cartilaginous trachea|textus connectivus elasticus of vertebrate trachea|elastic connective tissue of windpipe|elastic tissue of vertebrate trachea|cartilaginous trachea elastic tissue|elastic tissue of windpipe MA:0001861 uberon owl:Class UBERON:0003571 biolink:NamedThing trachea connective tissue A portion of connective tissue that is part of a trachea. tmpxe7fu0cj_hp_relaxed.owl connective tissue of trachea|connective tissue of windpipe MA:0001853|EMAPA:35876 uberon owl:Class HP:0007947 biolink:NamedThing Pericentral retinitis pigmentosa A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849398|MSH:C564838 human_phenotype owl:Class GO:0050922 biolink:NamedThing negative regulation of chemotaxis Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. tmpxe7fu0cj_hp_relaxed.owl downregulation of chemotaxis|down-regulation of chemotaxis|down regulation of chemotaxis|inhibition of chemotaxis biological_process owl:Class GO:0050884 biolink:NamedThing neuromuscular process controlling posture Any process in which an organism voluntarily modulates its posture, the alignment of its anatomical parts. tmpxe7fu0cj_hp_relaxed.owl regulation of posture biological_process owl:Class HP:0001635 biolink:NamedThing Congestive heart failure The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. tmpxe7fu0cj_hp_relaxed.owl Cardiac failure|Chronic heart failure|CHF|Cardiac insufficiency|Cardiac failures|Heart failure SNOMEDCT_US:42343007|UMLS:C0018802|MSH:D006333|SNOMEDCT_US:84114007|UMLS:C0018801 HP:0006686 human_phenotype owl:Class HP:0007018 biolink:NamedThing Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. tmpxe7fu0cj_hp_relaxed.owl ADHD|Attention deficit|Attention deficit disorder|Attention deficits|Childhood attention deficit/hyperactivity disorder|Attention deficit-hyperactivity disorder SNOMEDCT_US:7461003|MSH:D001289|UMLS:C1263846|SNOMEDCT_US:406506008 HP:0001577|HP:0006973|HP:0001576 owl:Class HP:0011260 biolink:NamedThing Darwin notch of helix Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix. tmpxe7fu0cj_hp_relaxed.owl Helix, Darwin notch UMLS:C4021180 peter 2011-12-18T06:01:45Z human_phenotype owl:Class GO:0040017 biolink:NamedThing positive regulation of locomotion Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. tmpxe7fu0cj_hp_relaxed.owl activation of locomotion|up-regulation of locomotion|stimulation of locomotion|up regulation of locomotion|upregulation of locomotion biological_process owl:Class UBERON:0009471 biolink:NamedThing dorsum of tongue The superior surface of the tongue divided by the sulcus terminalis into an anterior two-thirds, the presulcal part (pars presulcalis). and a posterior one-third, the postsulcal part (pars postsulcalis). tmpxe7fu0cj_hp_relaxed.owl dorsal tongue|tongue dorsum|dorsum linguae NCIT:C32482|UMLS:C0226952|SCTID:66938003|FMA:54651 uberon owl:Class HP:0100029 biolink:NamedThing Lingual thyroid An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend. tmpxe7fu0cj_hp_relaxed.owl MSH:D046151|SNOMEDCT_US:129123002|UMLS:C0266284|SNOMEDCT_US:21279007 A lingual thyroid is the most common form of an aberrant thyroid gland. doelkens 2010-06-10T10:20:31Z human_phenotype owl:Class HP:0004743 biolink:NamedThing Chronic tubulointerstitial nephritis Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:60926001|UMLS:C0238304 human_phenotype owl:Class HP:0001970 biolink:NamedThing Tubulointerstitial nephritis A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. tmpxe7fu0cj_hp_relaxed.owl Interstitial nephritis|Nephritis, Tubulointerstitial SNOMEDCT_US:28689008|UMLS:C0041349|SNOMEDCT_US:428255004|MSH:D009395 human_phenotype owl:Class GO:0051785 biolink:NamedThing positive regulation of nuclear division Any process that activates or increases the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. tmpxe7fu0cj_hp_relaxed.owl up-regulation of nuclear division|stimulation of nuclear division|up regulation of nuclear division|activation of nuclear division|upregulation of nuclear division biological_process owl:Class HP:0011378 biolink:NamedThing Hypoplasia of the vestibule of the inner ear Underdevelopment of the vestibule of the inner ear. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023388 peter 2012-03-09T07:06:20Z human_phenotype owl:Class UBERON:0003212 biolink:NamedThing gustatory organ Any sense organ that functions in (some) detection of chemical stimulus involved in sensory perception of taste (GO:0050912). tmpxe7fu0cj_hp_relaxed.owl gustatory organ system organ|organ of gustatory organ system|organ of taste system|taste system organ|gustatory system organ|organ of gustatory system|taste organ FMA:77853|FBbt:00005159 uberon owl:Class HP:0032141 biolink:NamedThing Precordial pain A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck. tmpxe7fu0cj_hp_relaxed.owl 2018-11-22 15:23:39+00:00 peter owl:Class NCBITaxon:314293 biolink:NamedThing Simiiformes tmpxe7fu0cj_hp_relaxed.owl owl:Class PR:P17679 biolink:NamedThing erythroid transcription factor (mouse) An erythroid transcription factor that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl GATA-1 (mouse)|NF-E1 DNA-binding protein (mouse)|GATA-binding factor 1 (mouse)|mGATA1|Eryf1 (mouse)|Gf-1|Gata1|GF-1 (mouse) UniProtKB:P17679 Category=organism-gene. protein owl:Class HP:0004809 biolink:NamedThing Neonatal alloimmune thrombocytopenia Low platelet count associated with maternal platelet-specific alloantibodies. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:240305000|MSH:D054098|UMLS:C3853779 Neonatal alloimmune thrombocytopenia occurs following fetomaternal transfusions leading to generation of alloreactive antiplatelet antibodies. human_phenotype owl:Class CHEBI:33497 biolink:NamedThing transition element molecular entity A molecular entity containing one or more atoms of a transition element. tmpxe7fu0cj_hp_relaxed.owl transition metal molecular entity|transition element molecular entities chebi_ontology owl:Class GO:1905671 biolink:NamedThing regulation of lysosome organization Any process that modulates the frequency, rate or extent of lysosome organization. tmpxe7fu0cj_hp_relaxed.owl regulation of lysosome organization and biogenesis|regulation of lysosome organisation sl 2016-11-11T22:01:04Z biological_process owl:Class GO:0002616 biolink:NamedThing regulation of macrophage antigen processing and presentation Any process that modulates the frequency, rate, or extent of macrophage antigen processing and presentation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0006316 biolink:NamedThing Irregularly spaced teeth Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth. tmpxe7fu0cj_hp_relaxed.owl Variability of dental spacing|Irregular dental spacing|Irregularly spaced teeth|Variability of spacing between teeth UMLS:C1845878 HP:0009081 human_phenotype owl:Class GO:0045827 biolink:NamedThing negative regulation of isoprenoid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid. tmpxe7fu0cj_hp_relaxed.owl negative regulation of isoprenoid metabolism|down regulation of isoprenoid metabolic process|down-regulation of isoprenoid metabolic process|inhibition of isoprenoid metabolic process|downregulation of isoprenoid metabolic process biological_process owl:Class HP:0012003 biolink:NamedThing Affective epileptic aura Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. tmpxe7fu0cj_hp_relaxed.owl Affective aura|Affective auras|Emotional aura UMLS:C4023086 hecht 2012-07-20T11:52:11Z owl:Class GO:0070455 biolink:NamedThing positive regulation of heme biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of heme. tmpxe7fu0cj_hp_relaxed.owl up-regulation of heme biosynthetic process|up regulation of heme biosynthetic process|stimulation of heme biosynthetic process|positive regulation of heme synthesis|positive regulation of haem biosynthetic process|positive regulation of heme formation|upregulation of heme biosynthetic process|positive regulation of heme biosynthesis|activation of heme biosynthetic process|positive regulation of heme anabolism biological_process owl:Class HP:0032248 biolink:NamedThing Persistent viremia Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 13:36:30+00:00 peter owl:Class GO:1904036 biolink:NamedThing negative regulation of epithelial cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of epithelial cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl downregulation of epithelial cell apoptosis|negative regulation of epithelial cell apoptosis|inhibition of epithelial cell apoptosis|downregulation of epithelial cell apoptotic process|down-regulation of epitheliocyte apoptotic process|down regulation of epithelial cell apoptosis|negative regulation of epitheliocyte apoptotic process|downregulation of epitheliocyte apoptotic process|down-regulation of epitheliocyte apoptosis|inhibition of epitheliocyte apoptotic process|down-regulation of epithelial cell apoptosis|down regulation of epitheliocyte apoptosis|down regulation of epitheliocyte apoptotic process|inhibition of epithelial cell apoptotic process|negative regulation of epitheliocyte apoptosis|inhibition of epitheliocyte apoptosis|down regulation of epithelial cell apoptotic process|down-regulation of epithelial cell apoptotic process|downregulation of epitheliocyte apoptosis sl 2015-03-13T22:05:47Z biological_process owl:Class HP:0011785 biolink:NamedThing Thyrotoxicosis with toxic multinodular goiter tmpxe7fu0cj_hp_relaxed.owl Thyrotoxicosis with toxic multinodular goitre SNOMEDCT_US:26389007|UMLS:C0154143 peter 2012-04-22T06:15:52Z human_phenotype owl:Class HP:0000836 biolink:NamedThing Hyperthyroidism An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). tmpxe7fu0cj_hp_relaxed.owl Overactive thyroid MSH:D006980|SNOMEDCT_US:34486009|UMLS:C0020550 HP:0008241 human_phenotype owl:Class BFO:0000016 biolink:NamedThing disposition tmpxe7fu0cj_hp_relaxed.owl Disposition disposition BFO 2 Reference: Dispositions exist along a strength continuum. Weaker forms of disposition are realized in only a fraction of triggering cases. These forms occur in a significant number of cases of a similar type. b is a disposition means: b is a realizable entity & b’s bearer is some material entity & b is such that if it ceases to exist, then its bearer is physically changed, & b’s realization occurs when and because this bearer is in some special physical circumstances, & this realization occurs in virtue of the bearer’s physical make-up. (axiom label in BFO2 Reference: [062-002]) certain people have a predisposition to colon cancer|children are innately disposed to categorize objects in certain ways.|the cell wall is disposed to filter chemicals in endocytosis and exocytosis|an atom of element X has the disposition to decay to an atom of element Y (forall (x) (if (Disposition x) (and (RealizableEntity x) (exists (y) (and (MaterialEntity y) (bearerOfAt x y t)))))) // axiom label in BFO2 CLIF: [062-002] |(forall (x t) (if (and (RealizableEntity x) (existsAt x t)) (exists (y) (and (MaterialEntity y) (specificallyDepends x y t))))) // axiom label in BFO2 CLIF: [063-002] If b is a realizable entity then for all t at which b exists, b s-depends_on some material entity at t. (axiom label in BFO2 Reference: [063-002]) owl:Class BFO:0000017 biolink:NamedThing realizable entity A specifically dependent continuant that inheres in continuant entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances. tmpxe7fu0cj_hp_relaxed.owl RealizableEntity realizable To say that b is a realizable entity is to say that b is a specifically dependent continuant that inheres in some independent continuant which is not a spatial region and is of a type instances of which are realized in processes of a correlated type. (axiom label in BFO2 Reference: [058-002]) the role of being a doctor|the disposition of your blood to coagulate|the disposition of this piece of metal to conduct electricity.|the function of your reproductive organs|the role of this boundary to delineate where Utah and Colorado meet (forall (x t) (if (RealizableEntity x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (bearerOfAt y x t))))) // axiom label in BFO2 CLIF: [060-002] |(forall (x) (if (RealizableEntity x) (and (SpecificallyDependentContinuant x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (inheresIn x y)))))) // axiom label in BFO2 CLIF: [058-002] All realizable dependent continuants have independent continuants that are not spatial regions as their bearers. (axiom label in BFO2 Reference: [060-002]) owl:Class UBERON:0002076 biolink:NamedThing cuticle of hair Smooth and glossy outer protective cell layer of hair shaft. tmpxe7fu0cj_hp_relaxed.owl hair cuticle EMAPA:35388|MA:0000157|FMA:70933 uberon owl:Class HP:0100483 biolink:NamedThing Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal tmpxe7fu0cj_hp_relaxed.owl Fused innermost bone of 2nd toe with the 2nd long bone of foot UMLS:C4022048 human_phenotype owl:Class CHEBI:17359 biolink:NamedThing sulfite A sulfur oxoanion that is the conjugate base of hydrogen sulfite (H2SO3). tmpxe7fu0cj_hp_relaxed.owl trioxidosulfate(2-)|[SO3](2-)|SO3(2-)|trioxosulfate(2-)|SO3|sulphite|trioxosulfate(IV)|SULFITE ION|sulfite -2 O3S InChI=1S/H2O3S/c1-4(2)3/h(H2,1,2,3)/p-2 LSNNMFCWUKXFEE-UHFFFAOYSA-L 80.06420 79.95791 [O-]S([O-])=O Gmelin:1449|CAS:14265-45-3|PDBeChem:SO3 CHEBI:15139|CHEBI:45548 chebi_ontology owl:Class HP:0100196 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the innermost bone of the 4th toe UMLS:C4022225 doelkens 2010-06-24T04:54:59Z human_phenotype owl:Class HP:0032832 biolink:NamedThing Neonatal bilateral asymmetric myoclonic seizure Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class CHEBI:51958 biolink:NamedThing organic polycyclic compound tmpxe7fu0cj_hp_relaxed.owl organic polycyclic compounds chebi_ontology owl:Class CHEBI:33832 biolink:NamedThing organic cyclic compound Any organic molecule that consists of atoms connected in the form of a ring. tmpxe7fu0cj_hp_relaxed.owl organic cyclic compounds chebi_ontology owl:Class CHEBI:33598 biolink:NamedThing carbocyclic compound A homocyclic compound in which all of the ring members are carbon atoms. tmpxe7fu0cj_hp_relaxed.owl carbocycle|carbocyclic compounds|carbocyclic compound chebi_ontology owl:Class HP:0032781 biolink:NamedThing Focal aware autonomic seizure with urge to urinate/defecate A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032765 biolink:NamedThing Focal autonomic seizure with urge to urinate/defecate A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0019292 biolink:NamedThing white matter of pons tmpxe7fu0cj_hp_relaxed.owl FMA:83940 uberon owl:Class HP:0034115 biolink:NamedThing Anti-Kelch like protein 12 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12. tmpxe7fu0cj_hp_relaxed.owl Anti-KLHL-12 antibody positivity 2021-12-19 15:22:34+00:00 peter owl:Class GO:0045822 biolink:NamedThing negative regulation of heart contraction Any process that stops, prevents, or reduces the frequency, rate or extent of heart contraction. tmpxe7fu0cj_hp_relaxed.owl negative regulation of cardiac contraction|inhibition of heart contraction|downregulation of heart contraction|down-regulation of heart contraction|down regulation of heart contraction biological_process owl:Class UBERON:0002506 biolink:NamedThing iris epithelium An epithelium that is part of a iris [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of iris|iris pigmented epithelium|pigmented epithelium of iris|epithelium pigmentosum (iris)|epithelium pigmentosum iridis|epithelium of iris|iris epithelial tissue|iris epithelium EMAPA:35447|MA:0002826|FMA:58517 uberon owl:Class HP:0025489 biolink:NamedThing Bladder duplication A congenital anomaly characterized by the presence of two bladders. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 17:16:59+00:00 HPO:probinson owl:Class HP:0009088 biolink:NamedThing Speech articulation difficulties Impairment in the physical production of speech sounds. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1865313 Speech articulation difficulties can result from abnormalities of the vocal tract (the larynx and the pharyngeal, oral, and nasal cavities). human_phenotype owl:Class HP:0500187 biolink:NamedThing Increased CSF valine concentration Any increased amount from normal of valine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High valine levels in cerebrospinal fluid 2019-02-25 15:37:57+00:00 owl:Class HP:0500186 biolink:NamedThing Abnormal CSF valine concentration Any deviation from the normal concentration of valine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal valine levels in cerebrospinal fluid 2019-02-25 15:28:13+00:00 owl:Class HP:0012025 biolink:NamedThing Abnormal circulating ornithine concentration Deviation from the normal concentration of ornithine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023070 Ornithine is an amino acid produced in the urea cycle by the splitting off of urea from arginine. Ornithine is a naturally occurring, non-proteinogenic amino acid found in meat, fish, dairy and eggs. peter 2012-07-26T10:48:59Z owl:Class GO:0006024 biolink:NamedThing glycosaminoglycan biosynthetic process The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars. tmpxe7fu0cj_hp_relaxed.owl glycosaminoglycan formation|glycosaminoglycan biosynthesis|glycosaminoglycan anabolism|glycosaminoglycan synthesis biological_process owl:Class GO:0045989 biolink:NamedThing positive regulation of striated muscle contraction Any process that activates or increases the frequency, rate or extent of striated muscle contraction. tmpxe7fu0cj_hp_relaxed.owl activation of striated muscle contraction|up regulation of striated muscle contraction|up-regulation of striated muscle contraction|stimulation of striated muscle contraction|upregulation of striated muscle contraction biological_process owl:Class HP:0004450 biolink:NamedThing Preauricular skin furrow A groove of the skin immediately in front of the ear. tmpxe7fu0cj_hp_relaxed.owl Preauricular skin sulcus|Skin sulcus in front of the ear|Preauricular skin groove|Preauricular skin furrows|Skin groove in front of the ear UMLS:C1852411 human_phenotype owl:Class CL:0000329 biolink:NamedThing oxygen accumulating cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class PATO:0000609 biolink:NamedThing closure incomplete A morphological quality inhering in a bearer by virtue of the bearer's affording not completed blocked passage or view. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0000610 biolink:NamedThing open A morphological quality inhering in a bearer by virtue of the bearer's affording unobstructed passage or view. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0005947 biolink:NamedThing Decreased sensitivity to hypoxemia Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration. tmpxe7fu0cj_hp_relaxed.owl Decreased sensitivity to hypoxaemia|Decreased sensitivity to hypoxemia UMLS:C3806286 Note that hypoxia is defined as lack of oxygen in tissues. Hypoxia is usually preceded by hypoxemia (decreased concentration of oxygen in blood). human_phenotype owl:Class HP:0005957 biolink:NamedThing Breathing dysregulation tmpxe7fu0cj_hp_relaxed.owl UMLS:C3808046 human_phenotype owl:Class HP:0031760 biolink:NamedThing Non-accomodative esotropia A form of esotropia in which the angle of deviation is not affected by accommodative effort. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:46:28+00:00 peter owl:Class HP:0031585 biolink:NamedThing Tessier number 13 facial cleft There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above. tmpxe7fu0cj_hp_relaxed.owl 2017-10-14 12:54:25+00:00 peter owl:Class UBERON:0014430 biolink:NamedThing sciatic notch Either of two notches on the dorsal border of the hip bone on each side that when closed off by ligaments form the corresponding sciatic foramina. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0006659 biolink:NamedThing Internally rotated shoulders tmpxe7fu0cj_hp_relaxed.owl Internally rotated shoulders UMLS:C1862491 owl:Class GO:1904748 biolink:NamedThing regulation of apoptotic process involved in development Any process that modulates the frequency, rate or extent of apoptotic process involved in development. tmpxe7fu0cj_hp_relaxed.owl regulation of programmed cell death by apoptosis involved in development of an anatomical structure|regulation of induction of apoptosis involved in anatomical structure development|regulation of apoptotic program involved in development of an anatomical structure|regulation of type I programmed cell death involved in development of an anatomical structure|regulation of apoptosis activator activity involved in anatomical structure development|regulation of programmed cell death by apoptosis involved in anatomical structure development|regulation of apoptotic program involved in anatomical structure development|regulation of apoptotic process involved in anatomical structure development|regulation of apoptotic programmed cell death involved in anatomical structure development|regulation of induction of apoptosis by p53 involved in anatomical structure development|regulation of apoptosis activator activity involved in development of an anatomical structure|regulation of apoptosis signaling involved in development of an anatomical structure|regulation of apoptotic process involved in development of an anatomical structure|regulation of induction of apoptosis involved in development of an anatomical structure|regulation of apoptotic cell death involved in development of an anatomical structure|regulation of activation of apoptosis involved in development of an anatomical structure|regulation of apoptosis involved in development of an anatomical structure|regulation of commitment to apoptosis involved in anatomical structure development|regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|regulation of type I programmed cell death involved in anatomical structure development|regulation of apoptotic cell death involved in anatomical structure development|regulation of apoptosis involved in anatomical structure development|regulation of commitment to apoptosis involved in development of an anatomical structure|regulation of induction of apoptosis by p53 involved in development of an anatomical structure|regulation of signaling (initiator) caspase activity involved in anatomical structure development|regulation of activation of apoptosis involved in anatomical structure development|regulation of apoptotic programmed cell death involved in development of an anatomical structure|regulation of apoptosis signaling involved in anatomical structure development Q10943 in PMID:22801495, inferred from mutant phenotype es 2015-10-19T15:02:28Z biological_process owl:Class HP:0012834 biolink:NamedThing Right Being located on the right side of the body. tmpxe7fu0cj_hp_relaxed.owl Right-sided SNOMEDCT_US:264180000|UMLS:C0444532 peter 2014-06-06T07:21:46Z human_phenotype owl:Class GO:1904345 biolink:NamedThing negative regulation of gastric mucosal blood circulation Any process that stops, prevents or reduces the frequency, rate or extent of gastric mucosal blood circulation. tmpxe7fu0cj_hp_relaxed.owl downregulation of gastric mucosal blood circulation|down regulation of gastric mucosal blood circulation|down-regulation of gastric mucosal blood circulation|down-regulation of stomach mucosal blood circulation|inhibition of gastric mucosal blood circulation|inhibition of stomach mucosal blood circulation|negative regulation of stomach mucosal blood circulation|down regulation of stomach mucosal blood circulation|downregulation of stomach mucosal blood circulation sl 2015-06-11T21:20:44Z biological_process owl:Class HP:0032140 biolink:NamedThing Decreased specific antibody response to vaccination A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2018-11-22 15:08:46+00:00 peter owl:Class GO:1902533 biolink:NamedThing positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. tmpxe7fu0cj_hp_relaxed.owl up-regulation of signal transduction via intracellular signaling cascade|upregulation of intracellular signaling pathway|up regulation of signal transmission via intracellular cascade|up regulation of intracellular signal transduction|positive regulation of intracellular signaling chain|upregulation of signal transduction via intracellular signaling cascade|upregulation of intracellular signaling cascade|activation of intracellular signaling cascade|upregulation of signal transmission via intracellular cascade|upregulation of intracellular signal transduction|positive regulation of signal transmission via intracellular cascade|up regulation of intracellular signal transduction pathway|up-regulation of intracellular signaling pathway|up-regulation of intracellular signaling chain|up regulation of intracellular signaling chain|up regulation of intracellular signaling pathway|up-regulation of signal transmission via intracellular cascade|up-regulation of intracellular signaling cascade|upregulation of intracellular signal transduction pathway|positive regulation of intracellular protein kinase cascade|positive regulation of intracellular signaling cascade|up-regulation of intracellular signal transduction pathway|activation of intracellular signaling chain|upregulation of intracellular signaling chain|up regulation of intracellular signaling cascade|up regulation of signal transduction via intracellular signaling cascade|positive regulation of intracellular signaling pathway|activation of signal transduction via intracellular signaling cascade|activation of intracellular signal transduction|positive regulation of intracellular signal transduction pathway|activation of intracellular signal transduction pathway|up-regulation of intracellular signal transduction|activation of intracellular signaling pathway|positive regulation of signal transduction via intracellular signaling cascade|activation of signal transmission via intracellular cascade bf 2013-12-02T11:33:10Z GO:0010740 biological_process owl:Class GO:0099551 biolink:NamedThing trans-synaptic signaling by neuropeptide, modulating synaptic transmission Cell-cell signaling between presynapse and postsynapse, via the vesicular release and reception of neuropeptide molecules, that modulates the synaptic transmission properties of the synapse. tmpxe7fu0cj_hp_relaxed.owl Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua. biological_process owl:Class HP:0005597 biolink:NamedThing Congenital alopecia totalis Loss of all scalp hair with congenital onset. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025175 human_phenotype owl:Class HP:0007418 biolink:NamedThing Alopecia totalis Loss of all scalp hair. tmpxe7fu0cj_hp_relaxed.owl Total alopecia UMLS:C0263504|SNOMEDCT_US:19754005 human_phenotype owl:Class GO:0060322 biolink:NamedThing head development The biological process whose specific outcome is the progression of a head from an initial condition to its mature state. The head is the anterior-most division of the body. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:35868 biolink:NamedThing hydroxy monocarboxylic acid Any monocarboxylic acid which also contains a separate (alcoholic or phenolic) hydroxy substituent. tmpxe7fu0cj_hp_relaxed.owl hydroxy acid|hydroxy monocarboxylic acids chebi_ontology owl:Class CHEBI:16134 biolink:NamedThing ammonia An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms. tmpxe7fu0cj_hp_relaxed.owl R-717|ammonia|ammoniac|NH3|AMMONIA|Ammonia|Ammoniak|spirit of hartshorn|[NH3]|azane|amoniaco 0 H3N InChI=1S/H3N/h1H3 QGZKDVFQNNGYKY-UHFFFAOYSA-N 17.03056 17.02655 [H]N([H])[H] PMID:22240068|PMID:22560242|MolBase:930|PMID:17737668|HMDB:HMDB0000051|Gmelin:79|Beilstein:3587154|MetaCyc:AMMONIA|PMID:22385337|PMID:18670398|Wikipedia:Ammonia|PMID:16348008|PMID:22130175|PMID:22290316|PMID:16008360|PMID:22443779|PMID:22081570|PMID:11746427|PMID:110589|PMID:16842901|PDBeChem:NH3|KNApSAcK:C00007267|CAS:7664-41-7|PMID:22342082|PMID:15092448|PMID:13753780|PMID:15554424|PMID:16349403|KEGG:C00014|PMID:17569513|PMID:15969015|PMID:17025297|PMID:16050680|PMID:17439666|PMID:22002069|PMID:11540049|PMID:15094021|PMID:11783653|PMID:22150211|KEGG:D02916|PMID:22100291|PMID:14663195|PMID:22088435|Drug_Central:4625|Reaxys:3587154|PMID:16614889|PMID:11139349|PMID:16664306 CHEBI:44269|CHEBI:44404|CHEBI:13407|CHEBI:44284|CHEBI:13771|CHEBI:13405|CHEBI:7434|CHEBI:13406|CHEBI:22533 chebi_ontology owl:Class GO:0002795 biolink:NamedThing negative regulation of antimicrobial peptide secretion Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide secretion. tmpxe7fu0cj_hp_relaxed.owl downregulation of antimicrobial peptide secretion|inhibition of antimicrobial peptide secretion|down regulation of antimicrobial peptide secretion|down-regulation of antimicrobial peptide secretion biological_process owl:Class CL:0000325 biolink:NamedThing stuff accumulating cell A cell that is specialised to accumulate a particular substance(s). tmpxe7fu0cj_hp_relaxed.owl cell owl:Class CHEBI:32728 biolink:NamedThing tryptophanium An alpha-amino-acid cation that is the conjugate acid of tryptophan, arising from protonation of the alpha-amino group. tmpxe7fu0cj_hp_relaxed.owl Htrp(+)|1-carboxy-2-(1H-indol-3-yl)ethanaminium|tryptophanium|tryptophan cation +1 C11H13N2O2 InChI=1S/C11H12N2O2/c12-9(11(14)15)5-7-6-13-10-4-2-1-3-8(7)10/h1-4,6,9,13H,5,12H2,(H,14,15)/p+1 QIVBCDIJIAJPQS-UHFFFAOYSA-O 205.23320 205.09715 [NH3+]C(Cc1c[nH]c2ccccc12)C(O)=O chebi_ontology owl:Class HP:0009635 biolink:NamedThing Synostosis of thumb phalanx Fusion of a phalanx of the thumb with another bone. tmpxe7fu0cj_hp_relaxed.owl Fusion of thumb bone UMLS:C4024263 doelkens 2009-01-29T05:09:41Z human_phenotype owl:Class CHEBI:59326 biolink:NamedThing prostaglandin carboxylic acid anion A prostanoid anion obtained by deprotonation of the carboxy group of any prostaglandin. tmpxe7fu0cj_hp_relaxed.owl prostaglandin carboxylic acid anions chebi_ontology owl:Class GO:1903768 biolink:NamedThing taste receptor complex A protein complex which is capable of taste receptor activity. tmpxe7fu0cj_hp_relaxed.owl rl 2014-12-22T16:53:45Z cellular_component owl:Class UBERON:0003449 biolink:NamedThing tail intervertebral disc An intervertebral disk that is part of a tail [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl tail intervertebral disk|tail spinal disc|intervertebral disk of tail|intervertebral disc of tail|intervertebral disc of post-ventral region|intervertebral disk of post-ventral region EMAPA:19592|MA:0000698 uberon owl:Class HP:0002661 biolink:NamedThing Painless fractures due to injury An increased tendency to fractures following trauma, with fractures occurring without pain. tmpxe7fu0cj_hp_relaxed.owl Painless fractures due to injury UMLS:C1837602 human_phenotype owl:Class UBERON:0004378 biolink:NamedThing proximal metaphysis A metaphysis that is in the proximal side of a diaphysis. tmpxe7fu0cj_hp_relaxed.owl proximal diaphyseal end of long bone FMA:32823 uberon owl:Class GO:0006576 biolink:NamedThing cellular biogenic amine metabolic process The chemical reactions and pathways occurring at the level of individual cells involving any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters. tmpxe7fu0cj_hp_relaxed.owl biogenic amine metabolism biological_process owl:Class HP:0025209 biolink:NamedThing Triggered by fructose ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose. tmpxe7fu0cj_hp_relaxed.owl Trigged by fruit sugar 2016-12-10 13:48:19+00:00 HPO:probinson owl:Class HP:0030470 biolink:NamedThing Abnormal dark-adapted bright flash electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072960 owl:Class HP:0011739 biolink:NamedThing Dexamethasone-suppressible primary hyperaldosteronism A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone. tmpxe7fu0cj_hp_relaxed.owl Familial primary hyperaldosteronism type 1|Glucocorticoid-remediable familial primary aldosteronism UMLS:C4020744|UMLS:C4020743|UMLS:C4023209 peter 2012-04-21T09:27:36Z human_phenotype owl:Class HP:0003273 biolink:NamedThing Hip contracture tmpxe7fu0cj_hp_relaxed.owl Hip contractures|Flexion contracture of hips|Flexion contractures of hips|Hip flexion contractures UMLS:C0409354|SNOMEDCT_US:202283002 human_phenotype owl:Class GO:0044264 biolink:NamedThing cellular polysaccharide metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class PATO:0000701 biolink:NamedThing smooth A texture quality inhering in a bearer by virtue of the bearer's processing a surface free of roughness or irregularities. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0000150 biolink:NamedThing texture A morphologic quality inhering in a bearer by virtue of the bearer's relative size, organization and distribution of its surface elements or the representation or invention of the appearance of its surface; visual and tactile surface characteristics. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0011134 biolink:NamedThing Low-grade fever Mild fever that does not exceed 38.5 degrees centigrade. tmpxe7fu0cj_hp_relaxed.owl Mild fever|Low-grade fever UMLS:C0239574|SNOMEDCT_US:304213008 peter 2011-06-19T12:19:44Z owl:Class HP:0012093 biolink:NamedThing Abnormality of endocrine pancreas physiology A function abnormality of the endocrine pancreas. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023047 peter 2012-08-20T09:18:18Z human_phenotype owl:Class CHEBI:33706 biolink:NamedThing beta-amino acid A non-proteinogenic amino acid in which the amino group is located on the carbon atom at the position beta to the carboxy group. tmpxe7fu0cj_hp_relaxed.owl beta-amino acid|beta-amino acids chebi_ontology owl:Class CHEBI:83820 biolink:NamedThing non-proteinogenic amino acid Any amino-acid that is not naturally encoded in the genetic code of any organism. tmpxe7fu0cj_hp_relaxed.owl non-proteinogenic amino-acid|non-coded amino-acids|non-canonical amino-acids|non-proteinogenic amino-acids|non-coded amino acids|non-canonical amino-acid|non-canonical amino acids|non-coded amino-acid|non-proteinogenic amino acids|non-coded amino acid|non-canonical amino acid Wikipedia:Non-proteinogenic_amino_acids chebi_ontology owl:Class HP:0031163 biolink:NamedThing Low femoral bone density Reduced bone mineral density of the femur. tmpxe7fu0cj_hp_relaxed.owl Low femur bone density 2017-06-18 17:59:29+00:00 Osteopenia is defined as BMD between 1 standard deviation (SD) and 2.5 SD below the mean of the young reference group. Osteoporosis is defined as BMD 2.5 SD or more below the mean of the young reference group. peter owl:Class UBERON:0003417 biolink:NamedThing mesenchyme of soft palate Mesenchyme that is part of a developing soft palate [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl soft palate mesenchyme EMAPA:18951 uberon owl:Class UBERON:0003556 biolink:NamedThing forebrain arachnoid mater An arachnoid mater that is part of a forebrain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl forebrain arachnoid mater of neuraxis|forebrain arachnoid|arachnoid of forebrain|arachnoid mater of neuraxis of forebrain|arachnoid mater of forebrain EMAPA:17775|MA:0000884|EMAPA:37544|EMAPA:17765 uberon owl:Class GO:0140243 biolink:NamedThing regulation of translation at synapse Any process that regulates translation occurring at the synapse. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/synapse/issues/210 Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua. pg 2018-07-15T09:38:26Z biological_process owl:Class HP:0005520 biolink:NamedThing Chronic disseminated intravascular coagulation A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced. tmpxe7fu0cj_hp_relaxed.owl Compensated disseminated intravascular coagulation|Chronic consumption coagulopathy UMLS:C1862184 human_phenotype owl:Class HP:0030024 biolink:NamedThing Pretragal ectopia Variably shaped, cartilage-containing tissue anterior to the external auditory meatus. tmpxe7fu0cj_hp_relaxed.owl Accessory Tragus|Extra cartilage in front of the ear|Pretragal Duplication SNOMEDCT_US:204245004|UMLS:C0266609 Pretragal ectopia refers to structures that are frequently complex and should be distinguished from preauricular tags. They may be difficult to distinguish from striated muscle hamartomas or tragal duplications. Pretragal ectopias often appear helix-like, and in such cases may be called Polyotia. owl:Class HP:0012080 biolink:NamedThing Cerebellar granular layer atrophy Atrophy of the cerebellum affecting primarily the granular cell layer. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023054 peter 2012-08-18T05:23:55Z owl:Class HP:0001743 biolink:NamedThing Abnormality of the spleen An abnormality of the spleen. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the spleen UMLS:C4025749 The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system. human_phenotype owl:Class HP:0006889 biolink:NamedThing Intellectual disability, borderline Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85. tmpxe7fu0cj_hp_relaxed.owl Mental retardation, borderline|Intellectual disability, borderline SNOMEDCT_US:77287004|UMLS:C0006009 We choose to define the concept of borderline intellectual disability onthe basis of the commonly used range of 70-85 (IQ), but note that in DSM-5, IQ boundaries are no longer part of the classification. human_phenotype owl:Class CHEBI:35915 biolink:NamedThing sterol ester A steroid ester obtained by formal condensation of the carboxy group of any carboxylic acid with the 3-hydroxy group of a sterol. tmpxe7fu0cj_hp_relaxed.owl Steryl ester|Sterol ester|3-hydroxysteroid esters|a sterol ester|3-hydroxysteroid ester 0 C20H30O2R2 302.452 302.22458 C12C(C3C(C(CC3)*)(C)CC1)CCC4C2(CCC(C4)OC(*)=O)C KEGG:C01958 CHEBI:13220|CHEBI:9268|CHEBI:15115|CHEBI:9269|CHEBI:26770|CHEBI:26772 chebi_ontology owl:Class HP:0005656 biolink:NamedThing Positional foot deformity A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025161 human_phenotype owl:Class GO:0002679 biolink:NamedThing respiratory burst involved in defense response A phase of elevated metabolic activity, during which oxygen consumption increases made as part of a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0001116 biolink:NamedThing Macular coloboma A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented. tmpxe7fu0cj_hp_relaxed.owl Coloboma of the macula MSH:C535968|UMLS:C1852767 human_phenotype owl:Class UBERON:0008430 biolink:NamedThing lumbar vertebral foramen A vertebral foramen that is part of a lumbar vertebra. tmpxe7fu0cj_hp_relaxed.owl FMA:24826 uberon owl:Class HP:0100271 biolink:NamedThing Hyponasal speech Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022173 doelkens 2010-07-27T09:57:48Z human_phenotype owl:Class GO:0019220 biolink:NamedThing regulation of phosphate metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. tmpxe7fu0cj_hp_relaxed.owl regulation of phosphate metabolism biological_process owl:Class HP:0006528 biolink:NamedThing Chronic lung disease According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. tmpxe7fu0cj_hp_relaxed.owl Chronic lung disease UMLS:C0746102|SNOMEDCT_US:413839001 human_phenotype owl:Class CL:0000017 biolink:NamedThing spermatocyte A male germ cell that develops from spermatogonia. The euploid primary spermatocytes undergo meiosis and give rise to the haploid secondary spermatocytes which in turn give rise to spermatids. tmpxe7fu0cj_hp_relaxed.owl EMAPA:31484|FBbt:00004936|CALOHA:TS-0951|FMA:84049|BTO:0001275|WBbt:0006799 cell owl:Class HP:0002550 biolink:NamedThing Absent facial hair Absence of facial hair. tmpxe7fu0cj_hp_relaxed.owl Absent facial hair UMLS:C1848192 human_phenotype owl:Class HP:0012555 biolink:NamedThing Absent nail of hallux Absent nail of big toe. tmpxe7fu0cj_hp_relaxed.owl Absent nail of big toe|Absent big toe nail UMLS:C4021081 peter 2014-01-04T01:06:39Z human_phenotype owl:Class GO:1904179 biolink:NamedThing positive regulation of adipose tissue development Any process that activates or increases the frequency, rate or extent of adipose tissue development. tmpxe7fu0cj_hp_relaxed.owl up-regulation of adipose tissue development|activation of adipose tissue development|up regulation of adipose tissue development|up-regulation of adipogenesis|upregulation of adipogenesis|positive regulation of adipogenesis|activation of adipogenesis|upregulation of adipose tissue development|up regulation of adipogenesis sl 2015-04-29T20:01:13Z biological_process owl:Class HP:0011287 biolink:NamedThing EEG with occipital sharp slow waves EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023429 peter 2012-02-11T12:28:45Z human_phenotype owl:Class HP:0002028 biolink:NamedThing Chronic diarrhea The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. tmpxe7fu0cj_hp_relaxed.owl Chronic diarrhea|Recurrent diarrhea|Chronic diarrhoea|Recurrent diarrhoea|Diarrhea, recurrent UMLS:C0401151|SNOMEDCT_US:236071009 human_phenotype owl:Class HP:0032142 biolink:NamedThing Fetor hepaticus Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic. tmpxe7fu0cj_hp_relaxed.owl Foetor hepaticus 2018-11-22 15:28:47+00:00 peter owl:Class HP:0007648 biolink:NamedThing Punctate cataract A type of cataract with punctate opacities of the lens. tmpxe7fu0cj_hp_relaxed.owl Punctate lenticular opacities UMLS:C1969675|SNOMEDCT_US:40714009|UMLS:C0271165 human_phenotype owl:Class HP:0007898 biolink:NamedThing Exudative retinopathy tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:25506007|MSH:D058456|SNOMEDCT_US:360455002|UMLS:C0154832 human_phenotype owl:Class HP:0001147 biolink:NamedThing Retinal exudate Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina. tmpxe7fu0cj_hp_relaxed.owl Retinal exudates SNOMEDCT_US:39832008|UMLS:C0240897 Retinal exudates indicate increased vessel permeability and an associated risk of retinal edema. human_phenotype owl:Class HP:0000557 biolink:NamedThing Buphthalmos Diffusely large eye (with megalocornea) associated with glaucoma. tmpxe7fu0cj_hp_relaxed.owl Enlarged eyeball UMLS:C4551507|MSH:D006871 Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched. owl:Class HP:0001090 biolink:NamedThing Abnormally large globe Diffusely large eye (with megalocornea) without glaucoma. tmpxe7fu0cj_hp_relaxed.owl Large eyes|Large eyeballs|Increased size of palpebral fissures|Large of palpebral fissures|Increased size of eyes|Megalophthalmos UMLS:C1855852|SNOMEDCT_US:246920008|UMLS:C0423221|UMLS:C4280603 Note that Increased size of palpebral fissues is not a synonym of this term. HP:0200093 human_phenotype owl:Class HP:0001933 biolink:NamedThing Subcutaneous hemorrhage This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). tmpxe7fu0cj_hp_relaxed.owl Subcutaneous haemorrhage|Bleeding below the skin UMLS:C0854107 Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. peter 2008-02-28T07:14:00Z human_phenotype owl:Class HP:0011669 biolink:NamedThing Left superior vena cava draining directly to the left atrium A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023238 peter 2012-04-09T12:02:06Z owl:Class HP:0031410 biolink:NamedThing Abnormal distribution of CD56 bright/dim natural killer cells An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal distribution of CD56 bright/dim NK cells 2017-09-04 12:15:25+00:00 The cytotoxic activity of CD56 dim NK cells is significantly higher than that of CD56 bright cells (the CD56bright CD16 population being the less cytotoxic) and they contain much more perforin, granzymes and cytolytic granules. peter owl:Class HP:0500033 biolink:NamedThing Abnormal natural killer subset distribution Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells. tmpxe7fu0cj_hp_relaxed.owl 2018-01-08 19:18:59+00:00 ORCID:0000-0001-7941-2961 owl:Class GO:0019172 biolink:NamedThing glyoxalase III activity Catalysis of the reaction: methylglyoxal + H2O = D-lactate. tmpxe7fu0cj_hp_relaxed.owl (R)-lactate hydro-lyase|glutathione-independent glyoxalase activity|D-lactate dehydratase MetaCyc:GLYOXIII-RXN|RHEA:27754|EC:4.2.1.130 Note that this term was reinstated from obsolete. Also note that this enzymatic activity converts methylglyoxal to D-lactate in a single glutathione (GSH)-independent step. The other known route for this conversion is the two-step GSH-dependent pathway catalyzed by EC:4.4.1.5 (lactoylglutathione lyase) and EC:3.1.2.6 (hydroxyacylglutathione hydrolase). molecular_function owl:Class GO:0016836 biolink:NamedThing hydro-lyase activity Catalysis of the cleavage of a carbon-oxygen bond by elimination of water. tmpxe7fu0cj_hp_relaxed.owl Reactome:R-HSA-9014627|EC:4.2.1.- molecular_function owl:Class HP:0011266 biolink:NamedThing Microtia, first degree Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean. tmpxe7fu0cj_hp_relaxed.owl First-degree microtia UMLS:C4021175 peter 2011-12-18T07:44:51Z HP:0000379 human_phenotype owl:Class PATO:0001482 biolink:NamedThing prominent A quality inhering in a bearer by virtue of the bearer's standing out or projecting beyond a surface or line. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0010403 biolink:NamedThing Duplication of the proximal phalanx of the 2nd toe Partial or complete duplication of proximal phalanx of second toe. tmpxe7fu0cj_hp_relaxed.owl Duplication of the proximal phalanx of the second toe|Duplication of innermost 2nd toe bone|Partial/complete duplication of the proximal phalanx of the 2nd toe UMLS:C4021274 doelkens 2009-07-16T11:58:15Z human_phenotype owl:Class HP:0005303 biolink:NamedThing Aortic arch calcification Calcification, that is, pathological deposition of calcium salts in the arch of aorta. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969291 human_phenotype owl:Class HP:0004962 biolink:NamedThing Thoracic aorta calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969292 owl:Class HP:0003849 biolink:NamedThing Flared upper limb metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm. tmpxe7fu0cj_hp_relaxed.owl Flared metaphyses of the upper limbs|Flared wide portion of the upper limb bone UMLS:C4021721 human_phenotype owl:Class CHEBI:30911 biolink:NamedThing glucitol tmpxe7fu0cj_hp_relaxed.owl Sorbitol|gulitol|glucitol|rel-(2R,3R,4R,5S)-hexane-1,2,3,4,5,6-hexol 0 C6H14O6 182.172 182.07904 Wikipedia:Sorbitol|Gmelin:83165|Beilstein:1721909 CHEBI:33795|CHEBI:26724|CHEBI:33796|CHEBI:15093|CHEBI:26726|CHEBI:9201 chebi_ontology owl:Class NCBITaxon:9604 biolink:NamedThing Hominidae tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0032526 biolink:NamedThing Ameliorated by acetylcholinesterase inhibitor Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon. tmpxe7fu0cj_hp_relaxed.owl 2019-05-26 11:47:48+00:00 peter owl:Class HP:0009711 biolink:NamedThing Retinal capillary hemangioma A benign vascular tumor of the retina without any neoplastic characteristics. tmpxe7fu0cj_hp_relaxed.owl Retinal hemangioblastoma NCIT:C3801|SNOMEDCT_US:312935003|UMLS:C0730303|UMLS:C1514915 peter 2009-01-30T11:08:05Z human_phenotype owl:Class GO:0099080 biolink:NamedThing supramolecular complex A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0033175 biolink:NamedThing Elevated circulating 5-oxoproline concentration Concentration of L-pyroglutamic acid in the blood is above the normal range. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating L-pyroglutamic acid concentration 2020-09-24 10:49:50+00:00 5-oxoproline is an oxoproline having the oxo group placed at the 5-position. It is an intermediate metabolite in the glutathione cycle. peter owl:Class HP:0033865 biolink:NamedThing Medullary peritubular capillaritis Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 17:47:37+00:00 peter owl:Class HP:0033864 biolink:NamedThing Abnormal medullary peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the medulla of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 17:46:31+00:00 peter owl:Class HP:0010595 biolink:NamedThing Abnormality of the distal fibular epiphysis Any abnormality of the distal epiphysis of the fibula. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the outermost end part of calf bone UMLS:C4023778 sandra1 2009-10-22T03:04:39Z human_phenotype owl:Class HP:0008141 biolink:NamedThing Dislocation of toes tmpxe7fu0cj_hp_relaxed.owl Dislocation of toes SNOMEDCT_US:263030002|UMLS:C0434717 human_phenotype owl:Class HP:0200063 biolink:NamedThing Colorectal polyposis Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen. tmpxe7fu0cj_hp_relaxed.owl Colorectal polyps UMLS:C0949059|SNOMEDCT_US:399505005 sebastiankohler 2013-05-31T01:19:31Z human_phenotype owl:Class HP:0100743 biolink:NamedThing Neoplasm of the rectum tmpxe7fu0cj_hp_relaxed.owl Rectal tumour|Rectal tumor SNOMEDCT_US:126847008|UMLS:C0034885|MSH:D012004|NCIT:C3262 doelkens 2011-06-06T06:20:18Z owl:Class GO:2000672 biolink:NamedThing negative regulation of motor neuron apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of motor neuron apoptotic process. tmpxe7fu0cj_hp_relaxed.owl negative regulation of motoneuron apoptosis|negative regulation of motor neuron apoptosis pr 2011-05-09T10:56:21Z biological_process owl:Class GO:0043524 biolink:NamedThing negative regulation of neuron apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons. tmpxe7fu0cj_hp_relaxed.owl inhibition of neuron apoptosis|downregulation of neuron apoptosis|neuron survival|negative regulation of programmed cell death, neurons|negative regulation of neuron apoptosis|down-regulation of neuron apoptosis|down regulation of neuron apoptosis biological_process owl:Class HP:0100263 biolink:NamedThing Distal symphalangism tmpxe7fu0cj_hp_relaxed.owl Symphalangism, distal MSH:C566099|UMLS:C1861401 doelkens 2010-07-20T03:00:19Z human_phenotype owl:Class HP:0032857 biolink:NamedThing Focal aware motor seizure with negative myoclonus A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal motor aware seizure with negative myoclonus peter owl:Class HP:0032846 biolink:NamedThing Focal motor seizure with negative myoclonus A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure. tmpxe7fu0cj_hp_relaxed.owl This is seen in the epilepsy syndrome atypical childhood epilepsy with centrotemporal spikes, where an upper limb or the head is affected by localized brief interruption in normal muscle tone. The patient may correct for the loss of tone with overshoot past the primary position. peter owl:Class UBERON:0006677 biolink:NamedThing surface of epithelium An anatomical boundary that adjacent_to a epithelium. tmpxe7fu0cj_hp_relaxed.owl epithelium surface FMA:70997 uberon owl:Class HP:0010095 biolink:NamedThing Partial duplication of the proximal phalanx of the hallux Partial duplication of the proximal phalanx of big toe. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the innermost bone of big toe UMLS:C4024052 doelkens 2009-05-29T12:18:59Z human_phenotype owl:Class HP:0031247 biolink:NamedThing Whooping cough A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 13:22:51+00:00 The term whooping cough is usually used to describe the disease caused by infection of the respiratory tract with Bordatella pertussis. This HPO term refers to the major symptom of that disease. peter owl:Class HP:0008587 biolink:NamedThing Mild neurosensory hearing impairment The presence of a mild form of sensorineural hearing impairment. tmpxe7fu0cj_hp_relaxed.owl Mild neurosensory hearing loss UMLS:C4021538 A neurosensory hearing loss with a deficit of 21-40 dB. human_phenotype owl:Class UBERON:0036655 biolink:NamedThing wall of cerebral aqueduct tmpxe7fu0cj_hp_relaxed.owl FMA:242774 uberon owl:Class PATO:0001898 biolink:NamedThing increased circumference A circumference which is relatively high. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0100275 biolink:NamedThing Diffuse cerebellar atrophy Diffuse unlocalised atrophy affecting the cerebellum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1854699 doelkens 2010-08-02T01:22:19Z HP:0006928 owl:Class UBERON:0004400 biolink:NamedThing bone tissue of epiphysis A portion of bone tissue that is part of a epiphysis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:241364 uberon owl:Class GO:0007599 biolink:NamedThing hemostasis The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Hemostasis biological_process owl:Class HP:0030481 biolink:NamedThing Abnormal amplitude of light-adapted single flash electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072971 owl:Class HP:0030472 biolink:NamedThing Abnormal light-adapted single flash electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072962 owl:Class GO:1990280 biolink:NamedThing RNA localization to chromatin A process in which RNA is transported to and maintained in a part of a chromosome that is organized into chromatin. tmpxe7fu0cj_hp_relaxed.owl RNA localisation to chromatin mah 2014-01-30T15:55:34Z biological_process owl:Class HP:0033048 biolink:NamedThing Substantia nigra hypointensity on susceptibility-weighted imaging Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI). tmpxe7fu0cj_hp_relaxed.owl Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI) Susceptibility-weighted imaging (SWI) is a relatively new magnetic resonance (MR) technique that exploits the magnetic susceptibility differences of various tissues, such as blood, iron and calcification, as a new source of contrast enhancement. Low SWI signal intensity may suggest deposition of paramagnetic material. peter owl:Class HP:0033357 biolink:NamedThing Limited head rotation Reduced range of motion turning the head side to side. tmpxe7fu0cj_hp_relaxed.owl 2020-12-01 12:37:00+00:00 peter owl:Class HP:0010730 biolink:NamedThing Double eyebrow This may present as a partial or complete duplication of the eyebrows. tmpxe7fu0cj_hp_relaxed.owl Double eyebrow|Duplication of eyebrow UMLS:C0431449|SNOMEDCT_US:253209004 Double eyebrow is commonly a feature of Mowat Wilson syndrome. doelkens 2010-04-21T04:16:59Z human_phenotype owl:Class HP:0033707 biolink:NamedThing Perioral hyperkeratosis Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth. tmpxe7fu0cj_hp_relaxed.owl 2021-03-31 11:24:31+00:00 peter owl:Class HP:0100060 biolink:NamedThing Irregular epiphyses of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the 3rd toe bone UMLS:C4022361 doelkens 2010-06-24T09:58:55Z human_phenotype owl:Class NBO:0000474 biolink:NamedThing circadian behavior phenotype tmpxe7fu0cj_hp_relaxed.owl pathological circadian behaviour 2011-04-08T02:19:42Z George Gkoutos behavior_ontology owl:Class GO:0140253 biolink:NamedThing cell-cell fusion A cellular process in which two or more cells combine together, their plasma membrane fusing, producing a single cell. In some cases, nuclei fuse, producing a polyploid cell, while in other cases, nuclei remain separate, producing a syncytium. tmpxe7fu0cj_hp_relaxed.owl cell fusion|cell cell fusion https://github.com/geneontology/go-ontology/issues/15939 pg 2018-08-13T18:38:18Z biological_process owl:Class PATO:0002154 biolink:NamedThing splayed ventral A curvature quality inhering in a bearer by virtue of the bearer's being curved outwards the abdomen of an organism. tmpxe7fu0cj_hp_relaxed.owl splayed anterior (human torso)|splayed inferior (human head) 2009-11-06T01:14:42Z quality owl:Class PATO:0001785 biolink:NamedThing splayed A curvature quality inhering in a bearer by virtue of the bearer's being curved outward. tmpxe7fu0cj_hp_relaxed.owl TODO: obsolete, definition too ambiguous. quality owl:Class UBERON:0004419 biolink:NamedThing proximal epiphysis of phalanx of manual digit 3 A proximal epiphysis that is part of a manual digit 3 phalanx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of phalanx of third digit of hand|basal epiphysis of phalanx of middle finger|base of phalanx of middle finger|base of phalanx of third finger|proximal epiphysis of phalanx of manual digit III|proximal epiphysis of phalanx of middle finger|proximal epiphysis of phalanx of manual digit 3 FMA:37510 uberon owl:Class HP:0008659 biolink:NamedThing Multiple small medullary renal cysts The presence of many cysts in the medulla of the kidney. tmpxe7fu0cj_hp_relaxed.owl Medullary cystic disease|Medullary sponge kidney disease SNOMEDCT_US:204958008|UMLS:C0687120|UMLS:C4024644|UMLS:C4020790 This feature is the cardinal sign of medullary cystic disease, also known as medullary sponge disease. HP:0100956|HP:0005569 human_phenotype owl:Class HP:0020139 biolink:NamedThing History of recent insect bite Medical history of a recent bite injury due to an insect. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-05 17:46:38+00:00 owl:Class HP:0033638 biolink:NamedThing Intralobular septal thickening Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern. tmpxe7fu0cj_hp_relaxed.owl Intralobular lines 2021-02-03 13:28:12+00:00 Intralobular lines may be seen in various conditions, including interstitial fibrosis and alveolar proteinosis. peter owl:Class HP:0033711 biolink:NamedThing Pulmonary interstitial thickening Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening. tmpxe7fu0cj_hp_relaxed.owl 2021-04-05 18:17:15+00:00 peter owl:Class HP:0030293 biolink:NamedThing Fibular metaphyseal irregularity Irregularity of the normally smooth surface of a metaphysis of a fibula. tmpxe7fu0cj_hp_relaxed.owl Irregularity of wide portion of calf bone UMLS:C4022532 owl:Class CHEBI:47882 biolink:NamedThing cyclic polypyrrole tmpxe7fu0cj_hp_relaxed.owl polypyrrole macrocycles|macrocyclic polypyrroles|cyclic polypyrroles chebi_ontology owl:Class CHEBI:18282 biolink:NamedThing nucleobase That part of DNA or RNA that may be involved in pairing. tmpxe7fu0cj_hp_relaxed.owl nucleobases|Base Wikipedia:Nucleobase|KEGG:C00701 CHEBI:25598|CHEBI:2995|CHEBI:13873 chebi_ontology owl:Class GO:0048339 biolink:NamedThing paraxial mesoderm development The process whose specific outcome is the progression of the paraxial mesoderm over time, from its formation to the mature structure. The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0005322 biolink:NamedThing Prominent nasal septum tmpxe7fu0cj_hp_relaxed.owl Low hanging septum of nose|Visible septum of nose|Prominent septum of nose|Visible nasal septum|Prominent nasal septum|Low hanging nasal septum UMLS:C4025216|UMLS:C4280490|UMLS:C4280489 human_phenotype owl:Class PATO:0001973 biolink:NamedThing cuspidate A shape quality inhering in a bearer by virtue of the bearer's being tapering gradually into a rigid point. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0003472 biolink:NamedThing Hypocalcemic tetany Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:190869004|UMLS:C0151940 human_phenotype owl:Class HP:0002901 biolink:NamedThing Hypocalcemia An abnormally decreased calcium concentration in the blood. tmpxe7fu0cj_hp_relaxed.owl Hypocalcaemia|Low blood calcium levels MSH:D006996|SNOMEDCT_US:5291005|UMLS:C0020598 human_phenotype owl:Class UBERON:0016466 biolink:NamedThing antihelix On the pinna, a curved prominence of cartilage, parallel with and in front of the helix, is called the antihelix, also known as the anthelix; this divides above into two crura, the crura antihelicis, between which is a triangular depression, the fossa triangularis. tmpxe7fu0cj_hp_relaxed.owl antihelix (auricula)|antihelix of pinna|anthelix|antihelical part of pinna NCIT:C32120|FMA:60995 uberon owl:Class UBERON:0015004 biolink:NamedThing tibia endochondral element The major preaxial endochondral element in the posterior zeugopod[Phenoscape]. tmpxe7fu0cj_hp_relaxed.owl tibia element|tibia skeletal element uberon owl:Class HP:0430002 biolink:NamedThing Abnormality of the lacrimal bone An abnormality of the lacrimal bone. tmpxe7fu0cj_hp_relaxed.owl Anomaly of the lacrimal bone|Malformation of the lacrimal bone|Deformity of the lacrimal bone UMLS:C4021872 owl:Class HP:0030830 biolink:NamedThing Crackles Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position. tmpxe7fu0cj_hp_relaxed.owl Crepitations|Rales MSH:D012135|UMLS:C0034642|SNOMEDCT_US:48409008 Rales are fine, discontinuous crackles that can sound like cellophane being crumpled or velcro being pulled apart. They may be heard with a stethoscope when listening over lungs containing more than the normal amount of fluid secretiions. owl:Class HP:0006439 biolink:NamedThing Radioulnar dislocation tmpxe7fu0cj_hp_relaxed.owl Dislocated radioulnar joints UMLS:C2673394 HP:0003972 human_phenotype owl:Class HP:0007267 biolink:NamedThing Chronic axonal neuropathy An abnormality characterized by chronic impairment of the normal functioning of the axons. tmpxe7fu0cj_hp_relaxed.owl Chronic sural axonal neuropathy UMLS:C4021578 This feature is assayed with sural nerve biopsy and is generally taken to be indicative of neuropathy in other peripheral nerves. HP:0003446 human_phenotype owl:Class HP:0410343 biolink:NamedThing Decreased circulating heparan sulfate level An abnormal decrease in the concentration of heparan sulfate in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased circulating heparan sulphate level|Decreased blood heparan sulphate concentration|Decreased blood heparan sulfate concentration owl:Class HP:0410341 biolink:NamedThing Abnormal circulating heparan sulfate level An abnormal level of heparan sulfate in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the concentration of heparan sulfate in the blood|Abnormal circulating heparan sulphate level|Abnormality of the concentration of heparan sulphate in the blood owl:Class GO:0047496 biolink:NamedThing vesicle transport along microtubule The directed movement of a vesicle along a microtubule, mediated by motor proteins. This process begins with the attachment of a vesicle to a microtubule, and ends when the vesicle reaches its final destination. tmpxe7fu0cj_hp_relaxed.owl microtubule-based vesicle localization biological_process owl:Class GO:0099518 biolink:NamedThing vesicle cytoskeletal trafficking The directed movement of a vesicle along a cytoskeletal fiber such as a microtubule or and actin filament, mediated by motor proteins. tmpxe7fu0cj_hp_relaxed.owl vesicle cytoskeletal transport|cytoskeletal fiber-based vesicle localization biological_process owl:Class HP:0032744 biolink:NamedThing Focal aware emotional seizure with agitation Focal emotional seizure with agitation in which awareness is retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:1900117 biolink:NamedThing regulation of execution phase of apoptosis Any process that modulates the frequency, rate or extent of execution phase of apoptosis. tmpxe7fu0cj_hp_relaxed.owl pr 2012-02-22T11:26:20Z biological_process owl:Class CHEBI:23324 biolink:NamedThing citrullines tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0031697 biolink:NamedThing Disseminated infection with live vaccine virus A dissemination viral infection caused by a live attenuated vaccine virus. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 22:41:17+00:00 peter owl:Class HP:0031696 biolink:NamedThing Disseminated viral infection A viral infection that fails to be contained by the immune sytem and spreads throughout the body. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 22:39:04+00:00 peter owl:Class HP:0033237 biolink:NamedThing Visceral epithelial cell detachment Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. tmpxe7fu0cj_hp_relaxed.owl Podocyte detachment|Detachment of visceral epithelial cells 2020-11-01 12:37:49+00:00 Separation from GBM without intervening immune deposits. See Figure 5d of PMID:32866505. peter owl:Class UBERON:0018606 biolink:NamedThing molar tooth 2 The molar tooth of the upper or lower jaw that is phylogenetically number 2. tmpxe7fu0cj_hp_relaxed.owl molar 2 tooth|second molar tooth|molar 2 FMA:321613 uberon owl:Class GO:0045577 biolink:NamedThing regulation of B cell differentiation Any process that modulates the frequency, rate or extent of B cell differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of B cell development|regulation of B-lymphocyte differentiation|regulation of B-cell differentiation|regulation of B lymphocyte differentiation Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. biological_process owl:Class GO:0097164 biolink:NamedThing ammonium ion metabolic process The chemical reactions and pathways involving the ammonium ion. tmpxe7fu0cj_hp_relaxed.owl ammonium ion metabolism|ammonium metabolic process pr 2011-09-28T04:21:30Z biological_process owl:Class HP:0032475 biolink:NamedThing 6-layered lissencephaly tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 12:02:50+00:00 A malformation of the pachygyria-agyria spectrum. A 6-layered cortex is characterized by bands of ectopic neurons of varying shape and size organized in columns or clusters, lying in a reduced rim of white matter. Layers I and II of the cortex are well defined, and pyramidal and polymorphic neurons of layers III, IV, V, and VI are found more or less in their appropriate location. peter owl:Class HP:0005067 biolink:NamedThing Proximal fibular overgrowth Overgrowth of the proximal part of the fibula. tmpxe7fu0cj_hp_relaxed.owl Overgrowth of innermost part of calf bone UMLS:C2673395 human_phenotype owl:Class HP:0003099 biolink:NamedThing Fibular overgrowth Relatively increased growth of the fibula compared to that of the tibia. tmpxe7fu0cj_hp_relaxed.owl Overgrowth of calf bone UMLS:C1864298 human_phenotype owl:Class HP:0010742 biolink:NamedThing Edema of the upper limbs An abnormal accumulation of fluid beneath the skin of the arms. tmpxe7fu0cj_hp_relaxed.owl Oedema of the upper limbs|Fluid accumulation in upper limbs UMLS:C0522035|SNOMEDCT_US:102558002 doelkens 2010-04-22T02:17:15Z human_phenotype owl:Class HP:0032872 biolink:NamedThing Focal impaired awareness cognitive seizure with illusion A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0010512 biolink:NamedThing Adrenal calcification Calcification within the adrenal glands. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:12286000|UMLS:C0271750 This condition may occur in a wide variety of pathologies, some serious and some with no obvious consequence. Adrenal hemorrhage may be detected as an incidental finding in children in radiographic studies of the abdomen. Etiologies include hemorrhage into the adrenals at or immediately after birth, neuroblastoma, ganglioneuroblastoma, cortical carcinoma, pheochromocytoma, and cysts. peter 2009-09-19T03:34:26Z human_phenotype owl:Class HP:0000555 biolink:NamedThing Leukocoria An abnormal white reflection from the pupil rather than the usual black reflection. tmpxe7fu0cj_hp_relaxed.owl Leukokoria|White pupillary reflex SNOMEDCT_US:1361009|UMLS:C0152458 The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma). human_phenotype owl:Class UBERON:0016912 biolink:NamedThing frenulum of upper lip A frenulum of lip that is part of a upper lip. tmpxe7fu0cj_hp_relaxed.owl upper lip frenulum|f. labii superioris|frenulum labii superioris FMA:59821 uberon owl:Class HP:0012268 biolink:NamedThing Myxoid liposarcoma A liposarcoma that contains myxomatous tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0206634|MSH:D018208|SNOMEDCT_US:404069006|SNOMEDCT_US:27849002 peter 2013-04-07T01:59:19Z human_phenotype owl:Class HP:0012034 biolink:NamedThing Liposarcoma Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0023827|MPATH:418|SNOMEDCT_US:254829001|MSH:D008080|SNOMEDCT_US:49430005 peter 2012-07-27T01:40:25Z owl:Class HP:0040134 biolink:NamedThing Abnormal hepatic iron concentration tmpxe7fu0cj_hp_relaxed.owl Abnormal liver iron concentration|Abnormal liver iron level UMLS:C4022420 HPO:skoehler owl:Class HP:0010608 biolink:NamedThing Hordeolum internum Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling. tmpxe7fu0cj_hp_relaxed.owl Stye of inner eyelid|Red bump on inner eyelid UMLS:C0085690|SNOMEDCT_US:414521009|UMLS:C4280375 sandra1 2009-10-27T11:33:25Z human_phenotype owl:Class HP:0003111 biolink:NamedThing Abnormal blood ion concentration Abnormality of the homeostasis (concentration) of a monoatomic ion. tmpxe7fu0cj_hp_relaxed.owl Electrolyte disorders|Abnormality of ion homeostasis|Electrolyte disturbance UMLS:C4025654|SNOMEDCT_US:237840007|UMLS:C1704431 HP:0003253 owl:Class GO:0045655 biolink:NamedThing regulation of monocyte differentiation Any process that modulates the frequency, rate or extent of monocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0008439 biolink:NamedThing Lumbar hemivertebrae Absence of one half of the vertebral body in the lumbar spine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0432149|SNOMEDCT_US:93167001 human_phenotype owl:Class HP:0034091 biolink:NamedThing Anti-platelet derived growth factor receptor The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor. tmpxe7fu0cj_hp_relaxed.owl Anti-PDGFR antibody positivity 2021-12-19 02:40:44+00:00 peter owl:Class UBERON:0035883 biolink:NamedThing lacrimomaxillary suture A suture between the lacrimal bone and the maxilla. tmpxe7fu0cj_hp_relaxed.owl sutura lacrimomaxillaris|lacrimomaxillary suture of skull FMA:52961 uberon owl:Class UBERON:0039261 biolink:NamedThing pancreatic artery tmpxe7fu0cj_hp_relaxed.owl FMA:70471 uberon owl:Class CL:0011115 biolink:NamedThing precursor cell A cell that, by division or terminal differentiation, can give rise to other cell types. tmpxe7fu0cj_hp_relaxed.owl Work is needed on GO 'cell differentiation' before it is clear whether the equivalent class definition 'native cell' that capable_of some 'cell differentiation' works. Also, may want to consider merging this with non-terminally differentiated cell. owl:Class PATO:0002290 biolink:NamedThing aplastic/hypoplastic tmpxe7fu0cj_hp_relaxed.owl 2011-04-18T05:11:33Z quality owl:Class GO:0110041 biolink:NamedThing regulation of pharynx morphogenesis Any process that modulates the frequency, rate or extent of pharynx morphogenesis, the process in which the anatomical structure of the pharynx is generated and organized. tmpxe7fu0cj_hp_relaxed.owl kmv 2017-07-24T21:00:20Z biological_process owl:Class UBERON:0013584 biolink:NamedThing metapodium bone 4 A metapodium bone that is part of a digit 4 plus metapodial segment. tmpxe7fu0cj_hp_relaxed.owl metapodium IV|metapodium 4 uberon owl:Class UBERON:0003397 biolink:NamedThing mesentery of duodenum A mesentery that is part of a duodenum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl duodenum mesentery EMAPA:19081 uberon owl:Class CHEBI:48379 biolink:NamedThing isourea A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives. tmpxe7fu0cj_hp_relaxed.owl isoureas chebi_ontology owl:Class GO:1990239 biolink:NamedThing steroid hormone binding Binding to a steroid hormone. tmpxe7fu0cj_hp_relaxed.owl pr 2013-11-15T09:26:18Z molecular_function owl:Class GO:0002726 biolink:NamedThing positive regulation of T cell cytokine production Any process that activates or increases the frequency, rate, or extent of T cell cytokine production. tmpxe7fu0cj_hp_relaxed.owl activation of T cell cytokine production|positive regulation of T-cell cytokine production|stimulation of T cell cytokine production|up-regulation of T cell cytokine production|upregulation of T cell cytokine production|positive regulation of T-lymphocyte cytokine production|positive regulation of T lymphocyte cytokine production|up regulation of T cell cytokine production biological_process owl:Class GO:0002251 biolink:NamedThing organ or tissue specific immune response tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0008216 biolink:NamedThing Adrenal gland dysgenesis Abnormal development of the adrenal gland. tmpxe7fu0cj_hp_relaxed.owl Dysplastic adrenal glands|Adrenal gland dysplasia UMLS:C1856017 owl:Class HP:0032830 biolink:NamedThing Neonatal seizure with bilateral asymmetric automatism Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032829 biolink:NamedThing Neonatal electro-clinical motor seizure with automatism Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features. tmpxe7fu0cj_hp_relaxed.owl Neonatal electroclinical motor seizure with automatism Normal and abnormal behavior in term and preterm infants may mimic ictal automatisms. peter owl:Class GO:0010665 biolink:NamedThing regulation of cardiac muscle cell apoptotic process Any process that modulates the rate or extent of cardiac cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a cardiac muscle cell and result in its death. tmpxe7fu0cj_hp_relaxed.owl regulation of cardiac muscle cell apoptosis biological_process owl:Class PR:P11413 biolink:NamedThing glucose-6-phosphate 1-dehydrogenase (human) A glucose-6-phosphate 1-dehydrogenase that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl hG6PD|G6PD UniProtKB:P11413 Category=organism-gene. protein owl:Class PR:000007749 biolink:NamedThing glucose-6-phosphate 1-dehydrogenase A glucose-6-phosphate dehydrogenase that is a translation product of the human G6PD gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl G6pd-1|G6PD|glucose-6-phosphate 1-dehydrogenase X|G6pdx Category=gene. protein owl:Class GO:1904987 biolink:NamedThing regulation of endothelial cell activation Any process that modulates the frequency, rate or extent of endothelial cell activation. tmpxe7fu0cj_hp_relaxed.owl bc 2016-02-29T16:16:09Z biological_process owl:Class HP:0500055 biolink:NamedThing Retinopathy of prematurity stage 4b A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well. tmpxe7fu0cj_hp_relaxed.owl ROP 4b 2018-02-19 18:56:48+00:00 ORCID:0000-0001-7941-2961 owl:Class UBERON:0006430 biolink:NamedThing xiphoid cartilage A costal cartilage that is part of a xiphoid process. tmpxe7fu0cj_hp_relaxed.owl ensiform cartilage|xiphoid cartilage|xiphoid process cartilage|cartilage of xiphoid process EMAPA:18725|AAO:0000940|MA:0001884|FMA:32574 uberon owl:Class Distal, cartilaginous portion of the sternum.[AAO] HP:0007054 biolink:NamedThing Hyperreflexia proximally tmpxe7fu0cj_hp_relaxed.owl UMLS:C1836012 owl:Class HP:0012572 biolink:NamedThing Ureter duplex A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:49496001|UMLS:C0221365|ICD-10:Q62.5 peter 2014-01-16T11:42:00Z human_phenotype owl:Class UBERON:0004829 biolink:NamedThing urethra skeletal muscle tissue A portion of skeletal muscle tissue that is part of a urethra [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl skeletal muscle tissue of urethra|urethra skeletal muscle|skeletal muscle of urethra|urethral skeletal muscle|urethra skeletal muscle tissue MA:0001690|EMAPA:37788 uberon owl:Class HP:0007754 biolink:NamedThing Macular dystrophy Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0730292 HP:0007798|HP:0007999|HP:0007914|HP:0007638|HP:0007919 human_phenotype owl:Class HP:0011224 biolink:NamedThing Ablepharon Absent eyelids. tmpxe7fu0cj_hp_relaxed.owl Aplasia of the eyelids|Ablepharon of eyelid|Agenesis of eyelids|Missing eyelids|Absent eyelids SNOMEDCT_US:13401001|SNOMEDCT_US:708541009|UMLS:C4020757|UMLS:C0266574 In ablepharon, the globe is continuously exposed. It is arguable whether true aplasia of the eyelid exists, or whether this represents severe hypoplasia. Nevertheless, as it is difficult or impossible to make this distinction on clinical grounds, the term was felt to be useful. peter 2011-12-13T07:58:12Z HP:0009925 human_phenotype owl:Class UBERON:0013156 biolink:NamedThing 1st arch mandibular endoderm tmpxe7fu0cj_hp_relaxed.owl endoderm of mandibular component EHDAA2:0000033|EMAPA:16384 uberon owl:Class GO:0003381 biolink:NamedThing epithelial cell morphogenesis involved in gastrulation The change in form that occurs when an epithelial cell progresses from it initial formation to its mature state, contributing to the process of gastrulation. tmpxe7fu0cj_hp_relaxed.owl dph 2009-12-09T07:18:53Z biological_process owl:Class HP:0000535 biolink:NamedThing Sparse and thin eyebrow Decreased density/number and/or decreased diameter of eyebrow hairs. tmpxe7fu0cj_hp_relaxed.owl Sparse and thin eyebrow|Thin, sparse eyebrows UMLS:C1832446 Sparseness can be regional (medial, central, lateral) or total. These modifiers should be incorporated into the term, when appropriate. HP:0004551|HP:0004520|HP:0002222|HP:0002554 owl:Class HP:0009404 biolink:NamedThing Broad phalanges of the 4th finger Increased width of the phalanges of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Broad bones of ring finger UMLS:C4024387 doelkens 2009-01-13T02:37:29Z human_phenotype owl:Class GO:0006111 biolink:NamedThing regulation of gluconeogenesis Any process that modulates the frequency, rate or extent of gluconeogenesis, the formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. tmpxe7fu0cj_hp_relaxed.owl regulation of gluconeogenesis involved in cellular glucose homeostasis|regulation of glucose biosynthetic process|regulation of glucose biosynthesis tb 2013-01-18T12:47:43Z GO:0090526 biological_process owl:Class HP:0025552 biolink:NamedThing Periorbital purpura Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding. tmpxe7fu0cj_hp_relaxed.owl 2017-07-09 13:14:08+00:00 HPO:probinson owl:Class HP:0031516 biolink:NamedThing Oocyte arrest at metaphase I Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage. tmpxe7fu0cj_hp_relaxed.owl Metaphase I oocyte meiotic arrest|Oocyte meiotic arrest at metaphase I 2017-09-22 02:21:05+00:00 An essential feature of successful mammalian reproduction is the fusion of a sperm with a metaphase II oocyte. Oocytes are first arrested at prophase I and resume meiosis in response to luteinizing hormone (LH). Following spindle assembly and extrusion of the first polar body, oocytes are again arrested at metaphase II until fertilization.Failure of oocytes to progress beyond metaphase I of meiosis. peter owl:Class UBERON:0014716 biolink:NamedThing interlobular duct A duct that is located between lobules, within the thin connective tissue septa that separate lobules. All interlobular ducts are excretory. tmpxe7fu0cj_hp_relaxed.owl NCIT:C32828 uberon owl:Class HP:0200124 biolink:NamedThing Chronic hepatitis due to cryptosporidium infection Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue. tmpxe7fu0cj_hp_relaxed.owl Hepatitis, chronic, due to cryptosporidium infection UMLS:C3808820 sebastiankohler 2013-06-11T11:21:21Z human_phenotype owl:Class GO:0010661 biolink:NamedThing positive regulation of muscle cell apoptotic process Any process that increases the rate or frequency of muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a muscle cell and result in its death. tmpxe7fu0cj_hp_relaxed.owl positive regulation of muscle cell apoptosis biological_process owl:Class HP:0009087 biolink:NamedThing Posteriorly placed tongue tmpxe7fu0cj_hp_relaxed.owl Posteriorly placed tongue UMLS:C4024600 human_phenotype owl:Class UBERON:0004783 biolink:NamedThing gall bladder serosa A serous membrane that is part of a gallbladder [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl serous membrane of gall bladder|serosa of gallbladder|biliary serosa|gallbladder serous membrane|serous coat of gallbladder|gallbladder serosa|serosa of gall bladder|gall bladder serous membrane|serous membrane of gallbladder|tunica serosa vesicae biliaris|tunica serosa (vesica biliaris) EMAPA:35372|MA:0001634|FMA:14659 uberon owl:Class UBERON:0012463 biolink:NamedThing cloacal lumen An anatomical space that is enclosed by a cloaca. tmpxe7fu0cj_hp_relaxed.owl cloacal chamber|cloaca lumen ZFA:0000330|TAO:0000330 uberon owl:Class the ZFA class belongs here as it is an anatomical space. See https://sourceforge.net/p/obo/zebrafish-anatomy-zfa-term-requests/102/ UBERON:0014687 biolink:NamedThing temporal sulcus Any of three grooves in the temporal lobe including the inferior, middle, and superior temporal sulci. tmpxe7fu0cj_hp_relaxed.owl temporal lobe sulci|temporal lobe sulcus HBA:9377|NCIT:C33744 uberon owl:Class CHEBI:17790 biolink:NamedThing methanol The primary alcohol that is the simplest aliphatic alcohol, comprising a methyl and an alcohol group. tmpxe7fu0cj_hp_relaxed.owl MeOH|wood naphtha|carbinol|Methanol|wood spirit|Methylalkohol|METHANOL|spirit of wood|methanol|CH3OH|wood alcohol|Methyl alcohol 0 CH4O InChI=1S/CH4O/c1-2/h2H,1H3 OKKJLVBELUTLKV-UHFFFAOYSA-N 32.04186 32.02621 CO PDBeChem:MOH|PMID:15172721|PMID:14012711|PMID:11489599|CAS:67-56-1|KEGG:C00132|PMID:17733096|PMID:20314698|KEGG:D02309|Gmelin:449|PMID:15906011|PMID:11430978|HMDB:HMDB0001875|Reaxys:1098229|PMID:19064074|Wikipedia:Methanol|Beilstein:1098229|PMID:11680737|PMID:11684179|MetaCyc:METOH|PMID:14760634|PMID:16705261|PMID:11141607|PMID:17451998|PMID:19850112|UM-BBD_compID:c0132|PMID:14678513 CHEBI:14588|CHEBI:44553|CHEBI:25227|CHEBI:6816|CHEBI:44080 chebi_ontology owl:Class CHEBI:15734 biolink:NamedThing primary alcohol A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. tmpxe7fu0cj_hp_relaxed.owl primary alcohols|1-Alcohol|a primary alcohol|Primary alcohol 0 CH3OR 31.034 31.01839 *C(O)([H])[H] KEGG:C00226 CHEBI:26262|CHEBI:8406|CHEBI:57489|CHEBI:13676|CHEBI:14887 chebi_ontology owl:Class HP:0025212 biolink:NamedThing Triggered by fasting Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting). tmpxe7fu0cj_hp_relaxed.owl Fasting triggered attacks|Triggered by fasting|Fasting triggered symptoms 2016-12-10 13:50:53+00:00 HPO:probinson owl:Class HP:0033540 biolink:NamedThing Reversible airflow obstruction Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL. tmpxe7fu0cj_hp_relaxed.owl Reversible pulmonary obstruction 2021-01-20 14:55:01+00:00 peter owl:Class CHEBI:86499 biolink:NamedThing monohydroxyproline A hydroxy-amino acid in which the amino acid specified is proline. A "closed" class. tmpxe7fu0cj_hp_relaxed.owl 0 C5H9NO3 131.12990 131.05824 chebi_ontology owl:Class HP:0031000 biolink:NamedThing Vestibular saccular degeneration Deterioration or loss of the tissues of the saccule of the vestibule. tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 20:01:44+00:00 peter owl:Class HP:0012041 biolink:NamedThing Decreased fertility in males tmpxe7fu0cj_hp_relaxed.owl Decreased fertility in males UMLS:C0151640 peter 2012-07-30T06:50:19Z human_phenotype owl:Class HP:0001036 biolink:NamedThing Parakeratosis Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:200766001|UMLS:C0030436|MSH:D010241|SNOMEDCT_US:65068000 Persistence of the nuclei of keratinocytes as they rise into the stratum corneum of the epidermis. Parakeratosis is observed as scaling in many conditions such as psoriasis. human_phenotype owl:Class HP:0030419 biolink:NamedThing Bartholin gland carcinoma A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:399533005|SNOMEDCT_US:276876007|UMLS:C0349561 Carcinomas of Bartholin's gland are rare tumors that account for less than 1% of all gynecological malignancies. Two major histological types, squamous cell carcinoma and adenocarcinoma, account for 80% to 90% of primary cases. The remainder are adenoid-cystic, transitional, or undifferentiated carcinomas. owl:Class GO:0014063 biolink:NamedThing negative regulation of serotonin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of serotonin. tmpxe7fu0cj_hp_relaxed.owl downregulation of serotonin secretion|down-regulation of serotonin secretion|positive regulation of serotonin release|down regulation of serotonin secretion|inhibition of serotonin secretion biological_process owl:Class CHEBI:30353 biolink:NamedThing isopropyl group tmpxe7fu0cj_hp_relaxed.owl valine side-chain|propan-2-yl|iPr|(CH3)2CH-|-CH(CH3)2|isopropyl|1-methylethyl 0 C3H7 43.08768 43.05478 CC(*)C chebi_ontology owl:Class HP:0011210 biolink:NamedThing EEG with occipital slowing Slowing in occipital areas of the scalp EEG. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023465 peter 2011-11-19T12:55:32Z human_phenotype owl:Class HP:0012461 biolink:NamedThing Bacteriuria The presence of bacteria in the urine. tmpxe7fu0cj_hp_relaxed.owl Bacteria in urine|High urine bacteria SNOMEDCT_US:61373006|UMLS:C0004659|MSH:D001437 The urine is normally bacteria-free. The term refers to bacteria from the urinary tract and not to bacteria found in the urine because of contamination from the surrounding tissues. Significant bacteriuria is a sign of urinary tract infection. peter 2013-11-24T12:15:47Z human_phenotype owl:Class GO:1905432 biolink:NamedThing regulation of retrograde trans-synaptic signaling by neuropeptide Any process that modulates the frequency, rate or extent of retrograde trans-synaptic signaling by neuropeptide. tmpxe7fu0cj_hp_relaxed.owl regulation of neuropeptide-mediated retrograde trans-synaptic signaling bf 2016-09-14T10:56:47Z biological_process owl:Class GO:0099177 biolink:NamedThing regulation of trans-synaptic signaling Any process that modulates the frequency, rate or extent of trans-synaptic signaling. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0061183 biolink:NamedThing regulation of dermatome development Any process that modulates the rate, frequency, or extent of the progression of the dermatome over time, from its initial formation to the mature structure. The dermatome is the portion of a somite that will form skin. tmpxe7fu0cj_hp_relaxed.owl dph 2010-07-14T08:40:26Z biological_process owl:Class HP:0030646 biolink:NamedThing Peripheral tmpxe7fu0cj_hp_relaxed.owl UMLS:C0205100|SNOMEDCT_US:14414005 owl:Class HP:0100538 biolink:NamedThing Abnormality of the supraorbital ridges An anomaly of the supraorbital portion of the frontal bones. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the brow of the face|Malformation of the supraorbital margins|Deformity of the supraorbital ridges|Malformation of the supraorbital ridges|Deformity of the supraorbital margins UMLS:C4022027 doelkens 2010-12-20T06:05:56Z human_phenotype owl:Class HP:0001989 biolink:NamedThing Fetal akinesia sequence Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). tmpxe7fu0cj_hp_relaxed.owl Foetal akinesia sequence|Early severe foetal akinesia sequence|Early severe fetal akinesia sequence|Foetal akinesia|Fetal akinesia MSH:C536647|SNOMEDCT_US:401138005|UMLS:C3151520|UMLS:C1276035 human_phenotype owl:Class HP:0005289 biolink:NamedThing Abnormality of the nasolabial region tmpxe7fu0cj_hp_relaxed.owl Malformation of the nasolabial region|Deformity of the nasolabial region|Anomaly of the nasolabial region UMLS:C4025223 peter 2008-03-26T06:07:00Z human_phenotype owl:Class UBERON:0008432 biolink:NamedThing thoracic vertebral foramen A vertebral foramen that is part of a thoracic vertebra. tmpxe7fu0cj_hp_relaxed.owl FMA:9143 uberon owl:Class HP:0001162 biolink:NamedThing Postaxial hand polydactyly Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). tmpxe7fu0cj_hp_relaxed.owl Postaxial polydactyly of hands|Postaxial polydactyly of fingers|Postaxial polydactyly of hand|Extra pinkie finger|Extra pinky finger|Polydactyly affecting the 5th finger|Extra little finger UMLS:C0431904|SNOMEDCT_US:205131007 HP:0009984|HP:0005763|HP:0004698 human_phenotype owl:Class NCBITaxon:147554 biolink:NamedThing Schizosaccharomycetes tmpxe7fu0cj_hp_relaxed.owl Archiascomycota GC_ID:1 ncbi_taxonomy owl:Class HP:0001171 biolink:NamedThing Split hand A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands. tmpxe7fu0cj_hp_relaxed.owl Claw hand|Hand ectrodactyly|Claw hands|Split hand|Claw hand deformities|Split-hand|Claw-hand deformities|Ectrodactyly of the hand SNOMEDCT_US:299034005|UMLS:C0221373 HP:0003050|HP:0001247 human_phenotype owl:Class HP:0032403 biolink:NamedThing Asparaginuria An increased concentration of asparagine in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased level of asparagine in urine|Increased urine asparagine level 2019-02-24 17:59:29+00:00 peter owl:Class HP:0031303 biolink:NamedThing Femoral arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery. tmpxe7fu0cj_hp_relaxed.owl 2017-08-26 21:04:24+00:00 peter owl:Class HP:0031302 biolink:NamedThing Lower extremity peripheral arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg. tmpxe7fu0cj_hp_relaxed.owl Lower extremity peripheral artery calcification 2017-08-26 21:03:24+00:00 GitHub issue: https://github.com/obophenotype/human-phenotype-ontology/issues/6877 peter owl:Class HP:0012736 biolink:NamedThing Profound global developmental delay A profound delay in the achievement of motor or mental milestones in the domains of development of a child. tmpxe7fu0cj_hp_relaxed.owl Psychomotor retardation, profound|Global developmental delay, profound UMLS:C3553450|UMLS:C1855773 peter 2014-03-23T03:21:25Z human_phenotype owl:Class HP:0001263 biolink:NamedThing Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. tmpxe7fu0cj_hp_relaxed.owl Mental and motor retardation|Retarded psychomotor development|Developmental retardation|Developmental delay|Psychomotor developmental delay|Delayed intellectual development|Retarded development|Cognitive delay|Psychomotor delay|Developmental delay, global|Delayed development|Delayed milestones|Delayed developmental milestones|Retarded mental development|Motor and developmental delay|Psychomotor development failure|Delayed psychomotor development|Delayed cognitive development|Lack of psychomotor development|Developmental delay in early childhood|Psychomotor development deficiency UMLS:C1864897|UMLS:C4020875|SNOMEDCT_US:224958001|UMLS:C0557874 Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. HP:0002473|HP:0007005|HP:0001292|HP:0007174|HP:0001277|HP:0006885|HP:0006935|HP:0006793|HP:0007106|HP:0007224|HP:0002433|HP:0001255|HP:0007094|HP:0000754|HP:0007228|HP:0006867|HP:0002532|HP:0007342 human_phenotype owl:Class HP:0040110 biolink:NamedThing Morphological abnormality of the saccule tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022433 HPO:skoehler owl:Class GO:0070175 biolink:NamedThing positive regulation of enamel mineralization Any process that activates or increases the frequency, rate or extent of enamel mineralization, the deposition of calcium salts in tooth enamel. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0070172 biolink:NamedThing positive regulation of tooth mineralization Any process that activates or increases the frequency, rate or extent of tooth mineralization, the deposition of calcium salts in tooth structures. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0033559 biolink:NamedThing Anti-myeloperoxidase antibody positivity The presence of autoantibodies in the blood circulation that react against myeloperoxidase. tmpxe7fu0cj_hp_relaxed.owl Anti-MPO antibody positivity 2021-01-23 12:16:50+00:00 peter owl:Class HP:0003974 biolink:NamedThing Absent radius Missing radius bone associated with congenital failure of development. tmpxe7fu0cj_hp_relaxed.owl Aplasia of the radius|Absent ossification/absence of radius|absence of radius and ulna|Missing outer large bone of forearm|Radial aplasia UMLS:C1405984|UMLS:C1849314|UMLS:C1838608 HP:0002819|HP:0005012 human_phenotype owl:Class HP:0002970 biolink:NamedThing Genu varum A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. tmpxe7fu0cj_hp_relaxed.owl Outward bow-leggedness|Outward bowing at knees|Genua vara|Genu vara UMLS:C0544755|SNOMEDCT_US:299331007|MSH:D056305 HP:0003052 human_phenotype owl:Class GO:0010818 biolink:NamedThing T cell chemotaxis The directed movement of a T cell in response to an external stimulus. A T cell is a type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. tmpxe7fu0cj_hp_relaxed.owl T-cell chemotaxis biological_process owl:Class HP:0005291 biolink:NamedThing Inflammatory arteriopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025222 human_phenotype owl:Class HP:0002633 biolink:NamedThing Vasculitis Inflammation of blood vessel. tmpxe7fu0cj_hp_relaxed.owl Inflammation of blood vessel|Angiitis UMLS:C0042384|SNOMEDCT_US:31996006|MSH:D014657 owl:Class HP:0010666 biolink:NamedThing Hypoplasia of the anterior nasal spine Underdevelopment of the anterior nasal spine of maxilla. tmpxe7fu0cj_hp_relaxed.owl Decreased length of anterior nasal spine|Decreased size of anterior nasal spine|Small anterior nasal spine|Decreased projection of anterior nasal spine|Deficiency of anterior nasal spine|Hypotrophic anterior nasal spine|Underdevelopment of anterior nasal spine UMLS:C4023751|UMLS:C4280373|UMLS:C4280372 peter 2010-02-26T08:10:11Z human_phenotype owl:Class UBERON:0011695 biolink:NamedThing embryonic cardiovascular system A cardiovascular system that is part of a conceptus. tmpxe7fu0cj_hp_relaxed.owl embryonic circulatory system|fetal circulatory system|conceptus cardiovascular system FMA:305965|EHDAA2:0000216|NCIT:C34148 uberon owl:Class HP:0009606 biolink:NamedThing Complete duplication of distal phalanx of the thumb Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of outermost bone of the thumb UMLS:C4021427 doelkens 2009-01-29T03:28:16Z HP:0004084|HP:0005784 human_phenotype owl:Class HP:0031826 biolink:NamedThing Abnormal reflex Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur). tmpxe7fu0cj_hp_relaxed.owl 2018-05-02 01:05:40+00:00 peter owl:Class HP:0004661 biolink:NamedThing Frontalis muscle weakness Reduced strength of the frontalis muscle (which is located on the forehead). tmpxe7fu0cj_hp_relaxed.owl Weak frontalis muscle|Weakness of forehead muscle UMLS:C1859438 HPO:skoehler human_phenotype owl:Class HP:0500114 biolink:NamedThing Abnormal stool urobilinogen concentration Abnormal concentration of urobilinogen present in the stool. tmpxe7fu0cj_hp_relaxed.owl 2018-07-20 14:59:44+00:00 owl:Class HP:0031436 biolink:NamedThing Increased pitch variability of speech A speech pattern characterized by abnormally elevated variability of the pitch of the voice. tmpxe7fu0cj_hp_relaxed.owl 2017-09-16 12:39:11+00:00 peter owl:Class HP:0031434 biolink:NamedThing Abnormal speech prosody An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm. tmpxe7fu0cj_hp_relaxed.owl 2017-09-16 12:34:05+00:00 peter owl:Class HP:0007599 biolink:NamedThing Generalized reticulate brown pigmentation tmpxe7fu0cj_hp_relaxed.owl Generalised reticulate brown pigmentation UMLS:C4024836 human_phenotype owl:Class HP:0200113 biolink:NamedThing Aphalangy of hands and feet tmpxe7fu0cj_hp_relaxed.owl Aphalangy, hands and feet UMLS:C4021887 sebastiankohler 2013-06-05T12:27:09Z human_phenotype owl:Class HP:0005886 biolink:NamedThing Aphalangy of the hands Absence of a digit or of one or more phalanges of a finger. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025114 human_phenotype owl:Class GO:1900047 biolink:NamedThing negative regulation of hemostasis Any process that stops, prevents or reduces the frequency, rate or extent of hemostasis. tmpxe7fu0cj_hp_relaxed.owl downregulation of hemostasis|inhibition of hemostasis|down-regulation of hemostasis|down regulation of hemostasis jl 2012-01-19T03:23:42Z biological_process owl:Class HP:0030005 biolink:NamedThing Capillary leak An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes. tmpxe7fu0cj_hp_relaxed.owl Systemic capillary leak syndrome|Increased capillary permeability MSH:D019559|UMLS:C1382398|UMLS:C0343084|SNOMEDCT_US:1608005|SNOMEDCT_US:87730004 owl:Class GO:0042998 biolink:NamedThing positive regulation of Golgi to plasma membrane protein transport Any process that activates or increases the frequency, rate or extent of the transport of proteins from the Golgi to the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl stimulation of Golgi to plasma membrane protein transport|up regulation of Golgi to plasma membrane protein transport|up-regulation of Golgi to plasma membrane protein transport|upregulation of Golgi to plasma membrane protein transport|activation of Golgi to plasma membrane protein transport biological_process owl:Class GO:0003218 biolink:NamedThing cardiac left ventricle formation The developmental process pertaining to the initial formation of a left cardiac ventricle from unspecified parts. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T09:54:33Z biological_process owl:Class HP:0004024 biolink:NamedThing Medially sloping radial metaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025436 human_phenotype owl:Class HP:0012435 biolink:NamedThing Ventral shortening of foreskin Reduction in length of the ventral (lower) skin of prepuce of penis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022905 peter 2013-11-23T08:45:20Z owl:Class HP:0100587 biolink:NamedThing Abnormal preputium morphology An abnormality of the retractable fold of skin that covers the tip of the penis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the preputium UMLS:C4022016 doelkens 2010-12-27T03:13:07Z owl:Class HP:0000160 biolink:NamedThing Narrow mouth Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). tmpxe7fu0cj_hp_relaxed.owl Narrow mouth|Small oral aperture|Small mouth|Microstomia MSH:D008865|UMLS:C0026034|SNOMEDCT_US:14582003 The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width. HP:0009096|HP:0009095|HP:0002261 human_phenotype owl:Class UBERON:0015077 biolink:NamedThing centrale cartilage A centrale endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0015067 biolink:NamedThing centrale endochondral element Endochondral element located between the proximal and distal rows of carpals or tarsals and thus representing the central carpals or tarsals[PHENOSCAPE]. tmpxe7fu0cj_hp_relaxed.owl centralia|central mesopodium element This term corresponds both to the navicular bone in the pes and the similar central carpals in the manus uberon owl:Class the FMA term is under 'general anatomical term'. NBO:0000096 biolink:NamedThing agoraphobia behavior "A phobia characterised by fear of open spaces." [NBO:GVG] HP:0000756 tmpxe7fu0cj_hp_relaxed.owl 2011-03-31T10:18:39Z George Gkoutos behavior_ontology owl:Class UBERON:0007616 biolink:NamedThing layer of synovial tissue A thin, loose vascular connective tissue that makes up the membranes surrounding joints and the sheaths protecting tendons (particularly flexor tendons in the hands and feet) where they pass over bony prominences. Synovial tissue contains synovial cells, which secrete a viscous liquid called synovial fluid; this liquid contains protein and hyaluronic acid and serves as a lubricant and nutrient for the joint cartilage surfaces[BTO]. Synovial tissue can be found in tendons (tissues that connect muscle to bone), bursae (fluid-filled, cushioning sacs found in spaces between tendons, ligaments, and bones), and the cavity (hollow enclosed area) that separates the bones of a freely movable joint, such as the knee or elbow[BTO]. tmpxe7fu0cj_hp_relaxed.owl synovial layer|synovium|synovial tissue|synovial membrane|stratum synoviale CALOHA:TS-0998|BTO:0001338|FMA:66762 uberon owl:Class HP:0006097 biolink:NamedThing 3-4 finger syndactyly Syndactyly with fusion of fingers three and four. tmpxe7fu0cj_hp_relaxed.owl Partial or complete syndactyly 3rd-4th fingers|Webbed 3rd-4th finger|Webbed 3rd-4th fingers UMLS:C1856889 HP:0006133 owl:Class HP:0008398 biolink:NamedThing Hypoplastic fifth fingernail A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped fifth fingernail|Underdeveloped fingernail of little finger|Underdeveloped fingernail of pinkie finger|Underdeveloped fingernail of pinky finger UMLS:C4024682 HP:0200103 human_phenotype owl:Class HP:0012158 biolink:NamedThing Carotid artery dissection A separation (dissection) of the layers of the carotid artery wall. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0338585 peter 2013-02-16T07:19:57Z human_phenotype owl:Class HP:0008921 biolink:NamedThing Neonatal short-limb short stature A type of short-limbed dwarfism that is manifest beginning in the neonatal period. tmpxe7fu0cj_hp_relaxed.owl Neonatal short-limbed dwarfism|Short-limbed dwarfism identifiable at birth|Short limb dwarfism recognizable at birth|Short limb dwarfism recognisable at birth|Short-limb dwarfism identifiable neonatally|Dwarfism, neonatal short-limbed|Short-limb dwarfism identifiable at birth UMLS:C1850171 HP:0008902|HP:0008894|HP:0008924|HP:0001536 human_phenotype owl:Class HP:0011936 biolink:NamedThing Decreased plasma total carnitine A decreased concentration of total carnitine in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased plasma total carnitine UMLS:C4023117 peter 2012-06-10T04:20:17Z human_phenotype owl:Class HP:0100721 biolink:NamedThing Mediastinal lymphadenopathy Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. tmpxe7fu0cj_hp_relaxed.owl Swollen lymph nodes in center of chest|Swollen lymph nodes in centre of chest UMLS:C0520743|SNOMEDCT_US:52324001 doelkens 2011-06-06T02:26:55Z human_phenotype owl:Class UBERON:0004448 biolink:NamedThing distal epiphysis of phalanx A distal epiphysis that is part of a phalanx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl head of phalanx uberon owl:Class HP:0031380 biolink:NamedThing Abnormal B cell proliferation Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 15:56:42+00:00 peter owl:Class HP:0033471 biolink:NamedThing 10-minute APGAR score of 3 tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:45:37+00:00 peter owl:Class HP:0000100 biolink:NamedThing Nephrotic syndrome Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. tmpxe7fu0cj_hp_relaxed.owl Nephrosis MSH:D009404|UMLS:C0027726|SNOMEDCT_US:52254009 In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h and hypalbuminemia < 2.5 mg/dl. HP:0008727|HP:0004718|HP:0008638|HP:0000801 owl:Class HP:0033746 biolink:NamedThing Intrascapular pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades. tmpxe7fu0cj_hp_relaxed.owl Pain between shoulder blades 2021-04-19 22:53:57+00:00 peter owl:Class HP:0034041 biolink:NamedThing Ventricular ectopy Ventricular ectopics, also known as ventricular extrasystoles, premature ventricular contractions or complexes (PVC) and ventricular premature depolarisations (VPD) are beats arising from within the ventricles. When they occur in groupings such as bigeminy, trigeminy, couplets and triplets they are referred to as ventricular ectopy. tmpxe7fu0cj_hp_relaxed.owl 2021-09-25 12:29:44+00:00 peter owl:Class CHEBI:63137 biolink:NamedThing 4-hydroxyproline zwitterion The amino acid zwitterion formed from 4-hydroxyproline. tmpxe7fu0cj_hp_relaxed.owl 4-hydroxypyrrolidinium-2-carboxylate 0 C5H9NO3 InChI=1S/C5H9NO3/c7-3-1-4(5(8)9)6-2-3/h3-4,6-7H,1-2H2,(H,8,9) PMMYEEVYMWASQN-UHFFFAOYSA-N 131.12990 131.05824 OC1C[NH2+]C(C1)C([O-])=O chebi_ontology owl:Class HP:0031969 biolink:NamedThing Reduced blood urea nitrogen An abnormally low concentration of urea nitrogen in the blood. tmpxe7fu0cj_hp_relaxed.owl Reduced BUN 2018-07-07 23:28:55+00:00 peter owl:Class GO:0045948 biolink:NamedThing positive regulation of translational initiation Any process that activates or increases the frequency, rate or extent of translational initiation. tmpxe7fu0cj_hp_relaxed.owl activation of translational initiation|upregulation of translational initiation|up regulation of translational initiation|stimulation of translational initiation|up-regulation of translational initiation biological_process owl:Class HP:0003988 biolink:NamedThing Long ulna Increased length of the ulna. tmpxe7fu0cj_hp_relaxed.owl Disproportionately long ulnae UMLS:C1848108 HP:0006435 human_phenotype owl:Class HP:0001310 biolink:NamedThing Dysmetria A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. tmpxe7fu0cj_hp_relaxed.owl Lack of coordination of movement|Abnormal finger-nose-finger test|Abnormal finger chase test UMLS:C0234162|MSH:D002524|SNOMEDCT_US:32566006 Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. Dysmetria can be assessed clinically by the finger chase test, whereby the examiner and the proband are sitting, and the examiner suddenly moves his or her finger five times in an unpredictable direction in a frontal plane, with movements having an amplitude of about 30 cm and a frequency of once every two seconds. The proband is asked to follow the movements with his or her index finger. The test is abnormal if the proband substantially under- or overshoots or cannot perform pointing movements at all. The finger-nose-finger test is similar, and the proband is asked to alternately touch his or her own nose and then to point to the finger of the examiner. human_phenotype owl:Class HP:0041074 biolink:NamedThing Chronic (near) absent circulating IgG3 A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured. tmpxe7fu0cj_hp_relaxed.owl Chronic (near) absent IgG3 in blood owl:Class HP:0011165 biolink:NamedThing Focal sensory seizure with visual features A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. tmpxe7fu0cj_hp_relaxed.owl Visual aura|Visual auras|Simple partial occipital seizures|Partial visual seizure|Focal visual seizure UMLS:C1850765 More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe. Note that there is a distinction between Visual aura and Simple partial occipital seizures. See HPO term HP:0025121 for comments. peter 2011-10-18T02:31:15Z HP:0025121|HP:0007175 human_phenotype owl:Class HP:0002170 biolink:NamedThing Intracranial hemorrhage Hemorrhage occurring within the skull. tmpxe7fu0cj_hp_relaxed.owl Intracranial haemorrhage|Bleeding within the skull SNOMEDCT_US:1386000|UMLS:C0151699|MSH:D020300 human_phenotype owl:Class HP:0010825 biolink:NamedThing Abnormality of the eleventh cranial nerve Abnormality of the eleventh cranial nerve. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the accessory nerve|Abnormality of cranial nerve XI UMLS:C4021225 peter 2010-07-10T03:54:53Z human_phenotype owl:Class GO:0072378 biolink:NamedThing blood coagulation, fibrin clot formation A protein activation cascade that contributes to blood coagulation and consists of the cascade of enzymatic reactions initiated by physical damage to the wall of a blood vessel, leading to the formation of a formation of a fibrin clot at the site of the injury. The process also includes numerous positive and negative regulatory events. tmpxe7fu0cj_hp_relaxed.owl See also the biological process term 'blood coagulation, intrinsic pathway ; GO:0007597'. mah 2010-11-22T03:09:32Z biological_process owl:Class HP:0031498 biolink:NamedThing Mucinous gastric carcinoma A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor. tmpxe7fu0cj_hp_relaxed.owl 2017-09-18 00:55:23+00:00 peter owl:Class HP:5000014 biolink:NamedThing Anti-GlyR antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR). tmpxe7fu0cj_hp_relaxed.owl Anti-glycine receptor antibody ORCID:0000-0002-3387-1836 owl:Class HP:0003204 biolink:NamedThing Intracellular accumulation of autofluorescent lipopigment storage material The intracellular accumulation of autofluorescent storage material. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025642 Accumulation of intracellular autofluorescent material or aging pigment has been characterized as a normal aging event. Lipofuscin (from the Greek word for fat and the Latin word for dark), refers to intracellular autofluorescent material that accumulates in aging cells with a excitation wavelength between 320 and 480 nm and an emission wavelength between 460 and 630 nm. Lpofuscin consists of a mixture of oxidized proteins and lipids, carbohydrates and trace amount of metals. Ceroid iss a lipofuscin-like lipopigment that arises from pathological conditions such as disease, malnutrition, and cell stress. Subunit c of mitochondrial ATP synthase makes up approximately 40% of this lipopigment/ceroid accumulation. human_phenotype owl:Class HP:0025497 biolink:NamedThing Coronary artery spasm A brief and sudden narrowing of a coronary artery. tmpxe7fu0cj_hp_relaxed.owl Coronary artery vasospasm 2017-05-14 19:58:57+00:00 Severe chest pain, usually without physical effort and with a concurrent ECG showing transient ST elevation, is the key for the diagnosis of coronary artery spasm. HPO:probinson owl:Class HP:0025496 biolink:NamedThing Abnormal coronary artery physiology Any anomaly of the function of a coronary artery. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 19:58:27+00:00 HPO:probinson owl:Class HP:0032287 biolink:NamedThing Ultra-low vision with no light perception Ultra-low vision with complete lack of light and form perception. tmpxe7fu0cj_hp_relaxed.owl 2019-02-10 13:55:07+00:00 peter owl:Class HP:0032123 biolink:NamedThing Ultra-low vision Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590). tmpxe7fu0cj_hp_relaxed.owl 2018-11-18 14:06:19+00:00 peter owl:Class HP:0032530 biolink:NamedThing Decreased succinic semialdehyde dehydrogenase level Reduced level of succinic semialdehyde dehydrogenase (SSADH). tmpxe7fu0cj_hp_relaxed.owl 2019-05-27 12:55:45+00:00 Succinic semialdehyde dehydrogenase catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). peter owl:Class HP:0001519 biolink:NamedThing Disproportionate tall stature A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. tmpxe7fu0cj_hp_relaxed.owl Marfanoid habitus|Dolichostenomelia|Reduced upper-lower segment ratio|Marfanoid body habitus SNOMEDCT_US:62250003|MSH:D054119|UMLS:C1836996|UMLS:C0003706 HP:0008864|HP:0003511 human_phenotype owl:Class HP:0033125 biolink:NamedThing Follicular lymphoma An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement. tmpxe7fu0cj_hp_relaxed.owl 2020-09-05 13:05:21+00:00 peter owl:Class HP:0012191 biolink:NamedThing B-cell lymphoma A type of lymphoma that originates in B-cells. tmpxe7fu0cj_hp_relaxed.owl B cell lymphoma MSH:D016393|SNOMEDCT_US:413616009|UMLS:C0079731|SNOMEDCT_US:1929004|SNOMEDCT_US:109979007 peter 2013-02-27T06:59:05Z human_phenotype owl:Class GO:0045905 biolink:NamedThing positive regulation of translational termination Any process that activates or increases the frequency, rate or extent of translational termination. tmpxe7fu0cj_hp_relaxed.owl stimulation of translational termination|up-regulation of translational termination|upregulation of translational termination|activation of translational termination|up regulation of translational termination biological_process owl:Class HP:0001005 biolink:NamedThing Dermatological manifestations of systemic disorders tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025812 owl:Class HP:0025169 biolink:NamedThing Left ventricular systolic dysfunction Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent. tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 14:07:53+00:00 HPO:probinson owl:Class HP:0005162 biolink:NamedThing Abnormal left ventricular function Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. tmpxe7fu0cj_hp_relaxed.owl Impaired left ventricular function|Left ventricular dysfunction|Left ventricular impairment|Left-sided heart failure|Left ventricular failure UMLS:C0553982|MSH:D006333|SNOMEDCT_US:275514001|SNOMEDCT_US:85232009|UMLS:C0023212 HP:0005154 owl:Class HP:0030823 biolink:NamedThing Scleral thickening Increased dimension of the sclera in the anterior-posterior axis. tmpxe7fu0cj_hp_relaxed.owl Thick sclera UMLS:C2674403 owl:Class UBERON:0003368 biolink:NamedThing epithelium of hard palate An epithelium that is part of a hard palate [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hard palate epithelial tissue|hard palate epithelium|epithelial tissue of hard palate EMAPA:18953 uberon owl:Class HP:0001075 biolink:NamedThing Atrophic scars Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. tmpxe7fu0cj_hp_relaxed.owl Thin, atrophic scars|Sunken or indented skin due to damage UMLS:C0162154|SNOMEDCT_US:239172000|SNOMEDCT_US:409766009 HP:0007567 human_phenotype owl:Class HP:0025087 biolink:NamedThing Delayed recoil upon stretching of skin Area of skin requiring an increased amount of time to return to its original shape after being stretched. tmpxe7fu0cj_hp_relaxed.owl 2016-10-15 14:50:00+00:00 see PMID:23919031 HPO:probinson owl:Class HP:0008067 biolink:NamedThing Abnormally lax or hyperextensible skin tmpxe7fu0cj_hp_relaxed.owl Abnormally loose or hyperelastic skin|Abnormally loose or stretchable skin UMLS:C4024736 peter 2008-04-02T03:56:00Z human_phenotype owl:Class HP:0010604 biolink:NamedThing Cyst of the eyelid tmpxe7fu0cj_hp_relaxed.owl Eyelid mass|Cyst of the eyelid|Lesion of the eyelid|Eyelid bump UMLS:C0155218|SNOMEDCT_US:46210008|SNOMEDCT_US:248514008|UMLS:C0578590|SNOMEDCT_US:301913002|UMLS:C0424844 sandra1 2009-10-27T10:57:50Z human_phenotype owl:Class HP:0200040 biolink:NamedThing Epidermoid cyst Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. tmpxe7fu0cj_hp_relaxed.owl Skin cyst|Infundibular cyst|Epidermal cyst|Epidermal inclusion cyst|Sebaceous cyst|Epidermoid cysts|Keratin cyst UMLS:C0014511|SNOMEDCT_US:399999000|SNOMEDCT_US:418630001|SNOMEDCT_US:419670003|SNOMEDCT_US:419603000|MSH:D004814|SNOMEDCT_US:417992006|SNOMEDCT_US:419893006|SNOMEDCT_US:418323001 A cyst is a cavity containing liquid, semisolid, or solid material. An epidermoid cyst is a benign cyst that develops out of ectodermal tissue and consists of a thin layer of squamous epithelium. An epidermal cyst may or may not be painful or release pus, and are usually noticed as a bump on the skin. Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts. sebastiankohler 2010-06-18T02:08:02Z human_phenotype owl:Class HP:0011107 biolink:NamedThing Recurrent aphthous stomatitis Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. tmpxe7fu0cj_hp_relaxed.owl Aphthous stomatitis|Buccal aphthous ulcers|Recurrent aphthous ulcers|Recurrent oral aphthae|Recurrent canker sores UMLS:C2937365|SNOMEDCT_US:427617000|SNOMEDCT_US:110426005|SNOMEDCT_US:398870000|UMLS:C0038363|SNOMEDCT_US:426965005|MSH:D013281 Recurrent aphthous stomatitis can be classified into three forms, with minor ulcers (over 80% of RAS cases) being less than 1 cm in diameter and self-limiting; major ulcers being over 1 cm in diameter with potential scar formation; and herpetiform ulcers manifesting as recurrent episodes with multiple small ulcers throughout the oral mucosa. peter 2011-06-08T07:11:09Z owl:Class GO:0050772 biolink:NamedThing positive regulation of axonogenesis Any process that activates or increases the frequency, rate or extent of axonogenesis. tmpxe7fu0cj_hp_relaxed.owl up-regulation of axonogenesis|upregulation of axonogenesis|activation of axonogenesis|stimulation of axonogenesis|up regulation of axonogenesis biological_process owl:Class HP:0030692 biolink:NamedThing Brain neoplasm A benign or malignant neoplasm that arises from or metastasizes to the brain. tmpxe7fu0cj_hp_relaxed.owl Brain tumour|Brain tumor SNOMEDCT_US:254935002|MSH:D001932|UMLS:C0006118|NCIT:C2907|SNOMEDCT_US:126952004 owl:Class HP:0100006 biolink:NamedThing Neoplasm of the central nervous system A neoplasm of the central nervous system. tmpxe7fu0cj_hp_relaxed.owl Tumors of the central nervous system|Neoplasia of the central nervous system|Tumours of the central nervous system|Neoplasm of the CNS MSH:D016543|SNOMEDCT_US:126951006|UMLS:C0085136|NCIT:C3262 doelkens 2010-05-14T09:11:53Z human_phenotype owl:Class PR:000003968 biolink:NamedThing alkaline phosphatase, tissue-nonspecific isozyme A protein that is a translation product of the human ALPL gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl ALPL|AP-TNAP|Akp2|TNSALP|alkaline phosphatase 2|alkaline phosphatase liver/bone/kidney isozyme|phosphocreatine phosphatase|phosphoamidase|Akp-2 Category=gene. protein owl:Class UBERON:0011093 biolink:NamedThing left pelvic girdle region A pelvic girdle region that is in the left side of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl left pelvic girdle FMA:16583 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern HP:0012590 biolink:NamedThing Abnormal urine output An abnormal amount of urine production. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3693260 peter 2014-01-16T03:59:33Z human_phenotype owl:Class HP:0030877 biolink:NamedThing Reduced FEV1/FVC ratio Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity). tmpxe7fu0cj_hp_relaxed.owl Obstructive deficit on pulmonary function test|Obstructive deficit on pulmonary function testing UMLS:C4280729 A low FEV1/FVC ratio indicates an obstructive defect. There are several cutoffs in the literature. The first option is to follow the GOLD criteria, which use a cutoff of less than 70 percent. For patients five to 18 years of age, the National Asthma Education and Prevention Program guideline says that a ratio of less than 85 percent is consistent with an obstructive defect as long as the patient has symptoms consistent with obstructive lung disease. The second option is to follow the ATS criteria, which use the lower limit of normal (LLN) as the cutoff for adults. The LLN is a measurement less than the fifth percentile of spirometry data obtained from the Third National Health and Nutrition Examination Survey (NHANES III). owl:Class HP:0009847 biolink:NamedThing Osteolytic defects of the middle phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024185 doelkens 2009-03-11T12:15:55Z HP:0009866 human_phenotype owl:Class HP:0000877 biolink:NamedThing Insulin-resistant diabetes mellitus at puberty tmpxe7fu0cj_hp_relaxed.owl Insulin-resistant diabetes mellitus at puberty UMLS:C1837792 owl:Class HP:0000831 biolink:NamedThing Insulin-resistant diabetes mellitus A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels. tmpxe7fu0cj_hp_relaxed.owl Insulin resistant diabetes|Insulin resistant diabetes mellitus|Insulin-resistant diabetes UMLS:C0854110 owl:Class HP:0009962 biolink:NamedThing Duplication of the distal phalanx of the 3rd finger Partial or complete duplication of the distal phalanx of middle finger. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the outermost bone of the middle finger|Partial/complete duplication of the distal phalanx of the 3rd finger UMLS:C4021363 doelkens 2009-05-26T12:46:36Z human_phenotype owl:Class HP:0025671 biolink:NamedThing Fetal pericardial effusion An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Fetal pericardial effusion appears in conditions such as hydrops fetalis, heart structural or rhythm alterations, however, it can also be observed in isolation. peterrobinson owl:Class HP:0032996 biolink:NamedThing Abnormal cystatin C level Any deviation from the normal concentration of cystatin C in serum or plasma. tmpxe7fu0cj_hp_relaxed.owl The cysteine protease inhibitor cystatin C is thought to be secreted by most cells and eliminated in the kidneys, so its concentration in plasma is diagnostic of kidney function. peter owl:Class HP:0002223 biolink:NamedThing Absent eyebrow Absence of the eyebrow. tmpxe7fu0cj_hp_relaxed.owl Absent eyebrow|Failure of development of eyebrows|Agenesis of eyebrows|Absent eyebrows|Missing eyebrows|Aplasia of eyebrows|Loss of eyebrows SNOMEDCT_US:253208007|UMLS:C4280582|SNOMEDCT_US:422441003|UMLS:C0578682|UMLS:C0431448|UMLS:C4280581 owl:Class HP:0002298 biolink:NamedThing Absent hair tmpxe7fu0cj_hp_relaxed.owl Absent hair UMLS:C0574763|SNOMEDCT_US:297991008 HP:0004548 human_phenotype owl:Class HP:0025586 biolink:NamedThing Hypertropia A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 19:44:01+00:00 HPO:probinson owl:Class GO:2000271 biolink:NamedThing positive regulation of fibroblast apoptotic process Any process that activates or increases the frequency, rate or extent of fibroblast apoptotic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of fibroblast apoptosis jl 2010-11-23T01:07:29Z biological_process owl:Class HP:0011392 biolink:NamedThing Abnormality of the vestibular nerve tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023379 hecht 2012-03-09T05:03:47Z human_phenotype owl:Class HP:0001327 biolink:NamedThing Photosensitive myoclonic seizure Generalised myoclonic seizure provoked by flashing or flickering light. tmpxe7fu0cj_hp_relaxed.owl Photomyoclonic seizures|Photically induced myoclonic seizure|Photomyoclonic seizure UMLS:C4025791 human_phenotype owl:Class HP:0004919 biolink:NamedThing Galactose intolerance tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:190749000|SNOMEDCT_US:190745006|UMLS:C0016952|MSH:D005693 human_phenotype owl:Class HP:0004915 biolink:NamedThing Impairment of galactose metabolism An impairment of galactose metabolism. tmpxe7fu0cj_hp_relaxed.owl Impaired galactose metabolism UMLS:C4021643 human_phenotype owl:Class HP:0031469 biolink:NamedThing Low self esteem Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 16:41:58+00:00 peter owl:Class HP:0009527 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of innermost long bone of index finger|Large epiphysis of proximal index finger phalanx UMLS:C4021455 doelkens 2009-01-16T01:12:34Z HP:0004129 human_phenotype owl:Class UBERON:0004387 biolink:NamedThing epiphysis of phalanx of manus An epiphysis that is part of a phalanx of a manus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epiphysis of phalanx of hand|epiphysis of phalanx of finger FMA:240707 uberon owl:Class GO:0120187 biolink:NamedThing positive regulation of protein localization to chromatin Any process that activates or increases the frequency, rate or extent of protein localization to chromatin. tmpxe7fu0cj_hp_relaxed.owl positive regulation of protein localisation to chromatin krc 2018-07-14T00:21:28Z biological_process owl:Class UBERON:8410019 biolink:NamedThing jejuno-ileal junction The area where the jejunum ends and the ileum part of the intestine begins. Although there is no clear distinct section, the ileum is narrower and has smaller villi than the jejunum. tmpxe7fu0cj_hp_relaxed.owl jejunoileal junction http://orcid.org/0000-0002-2825-0621 uberon owl:Class GO:0035148 biolink:NamedThing tube formation Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. tmpxe7fu0cj_hp_relaxed.owl tube lumen formation|lumen formation in an anatomical structure biological_process owl:Class HP:0004712 biolink:NamedThing Renal malrotation An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. tmpxe7fu0cj_hp_relaxed.owl Malrotation of the kidney|Abnormal rotation of the kidneys UMLS:C0238210|SNOMEDCT_US:49008000 The final kidney position in the renal fossa results from the rotation of the kidney with an orientation of the renal pelvis to the medial and the renal calyces to the lateral. Malrotation of the kidney can lead to orientation of the renal pelvis anteriorly, posteriorly and laterally. In most cases, renal malrotation does not cause any symptoms, but, hydronephrosis or stone formation can be observed as complications of renal malformation. HP:0004730 human_phenotype owl:Class HP:0500200 biolink:NamedThing Increased CSF glutamate concentration Abnormally increased levels of glutamic acid in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High glutamic acid levels in cerebrospinal fluid 2019-02-25 16:57:13+00:00 owl:Class HP:0500199 biolink:NamedThing Abnormal CSF glutamate concentration Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal glutamic acid levels in cerebrospinal fluid 2019-02-25 16:56:56+00:00 owl:Class HP:0003646 biolink:NamedThing Bicarbonaturia Abnormally increased concentration of hydrogencarbonate in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urine HCO3 concentration|Increased urine bicarbonate concentration UMLS:C1839865 human_phenotype owl:Class HP:0011279 biolink:NamedThing Abnormality of urine bicarbonate level An abnormal amount of hydrogencarbonate in the urine. tmpxe7fu0cj_hp_relaxed.owl Abnormality of urine HCO3 concentration UMLS:C4023435 peter 2011-12-30T02:57:55Z owl:Class CHEBI:48376 biolink:NamedThing carbamimidic acid tmpxe7fu0cj_hp_relaxed.owl HO-C(=NH)-NH2|isourea|carbamimic acid|carbamimidic acid|pseudourea|H2N-C(=NH)-OH|Isoharnstoff|carbonamidimidic acid|H2N-C(OH)=NH 0 CH4N2O InChI=1S/CH4N2O/c2-1(3)4/h(H4,2,3,4) XSQUKJJJFZCRTK-UHFFFAOYSA-N 60.05534 60.03236 NC(O)=N Beilstein:773698|CAS:4744-36-9 chebi_ontology owl:Class UBERON:0015059 biolink:NamedThing orbitosphenoid endochondral element An orbitosphenoid bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl orbitosphenoid element|orbitosphenoid skeletal element uberon owl:Class CHEBI:50846 biolink:NamedThing immunomodulator Biologically active substance whose activity affects or plays a role in the functioning of the immune system. tmpxe7fu0cj_hp_relaxed.owl Immunologic factor|Immune factor|Biomodulator|Immunological factor|immunomodulators Wikipedia:Immunotherapy chebi_ontology owl:Class CHEBI:59203 biolink:NamedThing straight-chain fatty acid anion A fatty acid anion formed by deprotonation of the carboxylic acid functional group of a straight-chain fatty acid. tmpxe7fu0cj_hp_relaxed.owl straight-chain fatty acid anions|straight-chain FA anions|straight-chain FA anion chebi_ontology owl:Class MAXO:0010214 biolink:NamedThing thyroid ultrasonography The use of ultrasound to produce images of structures in the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl thyroid gland diagnostic sonography|ultrasonography of thyroid gland|thyroid gland sonography|thyroid gland ultrasound imaging procedure|sonography of thyroid gland|thyroid gland medical ultrasound|thyroid gland ultrasound examination|thyroid gland ultrasound procedure 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-3000 owl:Class HP:0033061 biolink:NamedThing Increased factor IX activity Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0025053 biolink:NamedThing Elevated brain N-acetyl aspartate level by MRS An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy 2016-09-26 08:52:49+00:00 HPO:probinson owl:Class CHEBI:48705 biolink:NamedThing agonist Substance which binds to cell receptors normally responding to naturally occurring substances and which produces a response of its own. tmpxe7fu0cj_hp_relaxed.owl agonist|agonista|agonists|agoniste chebi_ontology owl:Class HP:0004431 biolink:NamedThing Complement deficiency An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:24743004|UMLS:C0272242 peter 2008-03-18T09:51:00Z human_phenotype owl:Class HP:0005339 biolink:NamedThing Abnormality of complement system An abnormality of the complement system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025213 The complement system represents a family of over 25 serum proteins and cell surface receptors that act in a cascade manner leading to innate functions such as inflammation and enhancement of adaptive immunity. Three general pathways, i.e. classical, lectin and alternative, activate the complement system. peter 2008-03-26T07:58:00Z HP:0025541 human_phenotype owl:Class PR:000001345 biolink:NamedThing endoglin A protein that is a translation product of the human ENG gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl cell surface MJ7/18 antigen|END|CD105|Edg|ENG IUPHARobj:2895|PIRSF:PIRSF038746 Category=gene. Requested by=CL. protein owl:Class CHEBI:63726 biolink:NamedThing neuroprotective agent Any compound that can be used for the treatment of neurodegenerative disorders. tmpxe7fu0cj_hp_relaxed.owl neuroprotectants|neuroprotectant|neuroprotective agents chebi_ontology owl:Class HP:0003495 biolink:NamedThing GM2-ganglioside accumulation Cellular accumulation of GM2 gangliosides. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1848920 Gangliosides are the main glycolipids of neuronal cell plasma membranes which ensure normal cellular activities. GM2-gangliosidosis can be caused by mutations in three genes: HEXA, HEXB, and GM2A. In patients with HexA deficiency GM2 ganglioside accumulates inside lysosomes, which form characteristic inclusions within the cells, so called membranous cytoplasmic bodies, which are enlarged lysosomes filled with gangliosides. The highest concentration of GM2 ganglioside is found in neuronal cells, therefore, the HexA deficiency primarily affects the nervous system, causing mental and motor developmental delay in patients. Later, progressive destruction of neurons, proliferation of microglia and accumulation of complex lipids in macrophages are observed in the brain tissue. owl:Class HP:0004345 biolink:NamedThing Ganglioside accumulation Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025348 A ganglioside is composed of a glycosphingolipid with one or more sialic acids linked on the sugar chain. peter 2008-03-11T07:50:00Z human_phenotype owl:Class HP:0007429 biolink:NamedThing Few cafe-au-lait spots The presence of two to five cafe-au-lait macules. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024881 human_phenotype owl:Class HP:0025436 biolink:NamedThing Elevated serum 11-deoxycortisol Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone. tmpxe7fu0cj_hp_relaxed.owl Elevated serum 21-hydroxyprogesterone|Elevated serum deoxycorticosterone 2017-04-23 17:22:34+00:00 HPO:probinson owl:Class HP:0009028 biolink:NamedThing Generalized weakness of limb muscles Generalized weakness of the muscles of the arms and legs. tmpxe7fu0cj_hp_relaxed.owl Generalised weakness of limb muscles UMLS:C4024605 human_phenotype owl:Class HP:0007376 biolink:NamedThing Abnormal choroid plexus morphology An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024893 The choroid plexus is a structure in the ventricles of the brain where cerebrospinal fluid (CSF) is produced. peter 2008-04-01T10:52:00Z owl:Class UBERON:0001270 biolink:NamedThing bony pelvis A ring of bone formed by the sacrum and the first few coccygeal vertebrae as the roof, the pubis and ischia as the floor and the ilia and the acetabular part of the ischia as the walls. tmpxe7fu0cj_hp_relaxed.owl skeletal system of pelvis|pelvis ossea FMA:16580 TODO add taxon-specific part of relations connecting sub-structures to this. uberon owl:Class in FMA, this is part of the axial skeletal system HP:0007067 biolink:NamedThing Distal peripheral sensory neuropathy Peripheral sensory neuropathy affecting primarily distal sensation. tmpxe7fu0cj_hp_relaxed.owl Peripheral sensory neuropathy, distal UMLS:C4021582 owl:Class HP:0000763 biolink:NamedThing Sensory neuropathy Peripheral neuropathy affecting the sensory nerves. tmpxe7fu0cj_hp_relaxed.owl Damage to nerves that sense feeling|Peripheral sensory neuropathy UMLS:C0151313|SNOMEDCT_US:95662005 HP:0003410|HP:0007043|HP:0007142|HP:0006815 owl:Class CL:0000300 biolink:NamedThing gamete A mature sexual reproductive cell having a single set of unpaired chromosomes. tmpxe7fu0cj_hp_relaxed.owl haploid germ cell|haploid nucleated cell FMA:18649|CALOHA:TS-0395|FBbt:00005412 cell owl:Class HP:0100920 biolink:NamedThing Sclerosis of 4th finger phalanx An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Sclerosis of the phalanges of the 4th finger|Increased bone density in ring finger bone UMLS:C4020935 human_phenotype owl:Class PATO:0001476 biolink:NamedThing decreased position A positional which is relatively low. tmpxe7fu0cj_hp_relaxed.owl low position quality owl:Class HP:0005280 biolink:NamedThing Depressed nasal bridge Posterior positioning of the nasal root in relation to the overall facial profile for age. tmpxe7fu0cj_hp_relaxed.owl Low nasal root|Concave bridge of nose|Flat bridge of nose|Flat nasal root|Flattened nasal bridge|Depressed nasal root/bridge|Retruded bridge of nose|Depressed bridge of nose|Depressed nasal root|Retruded nasal bridge|Depressed nasal bridge|Concave nasal bridge|Flat, nasal bridge|Low nasal bridge|Flat nasal bridge UMLS:C3550546|UMLS:C4280495|UMLS:C1836542 The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background. HP:0000439|HP:0005119|HP:0004506|HP:0004413|HP:0004505|HP:0005284|HP:0000428|HP:0000459|HP:0004666|HP:0000425 human_phenotype owl:Class HP:0410034 biolink:NamedThing Bilateral alveolar cleft of maxilla Nonmidline alveolar cleft of the maxilla. tmpxe7fu0cj_hp_relaxed.owl 2017-06-20 23:37:09+00:00 ORCID:0000-0001-5208-3432 owl:Class GO:0120186 biolink:NamedThing negative regulation of protein localization to chromatin Any process that stops, prevents, or reduces the frequency, rate or extent of protein localization to chromatin. tmpxe7fu0cj_hp_relaxed.owl negative regulation of protein localisation to chromatin krc 2018-07-14T00:19:32Z biological_process owl:Class HP:0001748 biolink:NamedThing Polysplenia Polysplenia is a congenital disease manifested by multiple small accessory spleens. tmpxe7fu0cj_hp_relaxed.owl Accessory spleens|Multiple accessory spleens|Multiple small spleens UMLS:C1856659 HP:0006272|HP:0006271|HP:0001749 human_phenotype owl:Class HP:0009799 biolink:NamedThing Supernumerary spleens The presence of two or more accessory spleens. tmpxe7fu0cj_hp_relaxed.owl Extra spleen UMLS:C0266631|SNOMEDCT_US:10362008 peter 2009-02-11T05:44:01Z human_phenotype owl:Class HP:0025013 biolink:NamedThing Decerebrate rigidity A type of rigidity that is manifested by an exaggerated extensor posture of all extremities. tmpxe7fu0cj_hp_relaxed.owl Decerebrate posturing 2016-08-09 11:43:43+00:00 Decerebrate rigidity results from release of vestibular nuclei from cerebral control because of a brainstem lesion (i.e., decerebration). HPO:probinson owl:Class HP:0041079 biolink:NamedThing Decreased body fat percentage The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males. tmpxe7fu0cj_hp_relaxed.owl Decreased adipose tissue percentage owl:Class PR:Q05117 biolink:NamedThing tartrate-resistant acid phosphatase type 5 (mouse) A tartrate-resistant acid phosphatase type 5 that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl Trap|TrATPase (mouse)|TR-AP (mouse)|tartrate-resistant acid ATPase (mouse)|Acp5|type 5 acid phosphatase (mouse)|mACP5|T5ap UniProtKB:Q05117 Category=organism-gene. protein owl:Class PR:000001937 biolink:NamedThing tartrate-resistant acid phosphatase type 5 A protein that is a translation product of the human ACP5 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl type 5 acid phosphatase|T5ap|Trap|ACP5|TR-AP|tartrate-resistant acid ATPase|TrATPase PIRSF:PIRSF000898 Category=gene. Requested by=CL. protein owl:Class HP:0031405 biolink:NamedThing Poroma A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273]. tmpxe7fu0cj_hp_relaxed.owl 2017-09-03 15:57:11+00:00 peter owl:Class HP:0031873 biolink:NamedThing Early chronotype A tendency towards rising very early in the morning and going to bed early in the evening. tmpxe7fu0cj_hp_relaxed.owl Early sleep onset 2018-05-06 13:57:20+00:00 peter owl:Class HP:0006979 biolink:NamedThing Sleep-wake cycle disturbance Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake. tmpxe7fu0cj_hp_relaxed.owl Sleep-wake cycle disturbance UMLS:C1833362 human_phenotype owl:Class HP:0012849 biolink:NamedThing Small intestinal bleeding Bleeding from the small intestine. tmpxe7fu0cj_hp_relaxed.owl Small intestinal hemorrhage|Small intestinal bleeding|Small intestinal haemorrhage SNOMEDCT_US:70375006|UMLS:C0520561 hecht 2014-06-07T09:12:22Z human_phenotype owl:Class HP:0012466 biolink:NamedThing Chronic respiratory acidosis Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:8764008|UMLS:C0268048 peter 2013-11-24T01:11:15Z human_phenotype owl:Class HP:0005972 biolink:NamedThing Respiratory acidosis Acidosis because of respiratory retention of carbon dioxide. tmpxe7fu0cj_hp_relaxed.owl MSH:D000142|SNOMEDCT_US:12326000|UMLS:C0001127 human_phenotype owl:Class HP:0030025 biolink:NamedThing Auricular pit Small indentation in the lower part of the ascending helix, concha, or in the crus helix. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022672 The location of the pits is the plane of fusion of the first branchial cleft. owl:Class CL:1000444 biolink:NamedThing mesothelial cell of anterior chamber of eye A mesothelial cell that is part of the anterior chamber of eyeball. tmpxe7fu0cj_hp_relaxed.owl FMA:70615 cell owl:Class GO:1903780 biolink:NamedThing negative regulation of cardiac conduction Any process that stops, prevents or reduces the frequency, rate or extent of cardiac conduction. tmpxe7fu0cj_hp_relaxed.owl down-regulation of cardiac conduction|down regulation of cardiac conduction|inhibition of cardiac conduction|downregulation of cardiac conduction rph 2015-01-07T13:20:20Z biological_process owl:Class GO:0042756 biolink:NamedThing drinking behavior The specific behavior of an organism relating to the intake of liquids, especially water. tmpxe7fu0cj_hp_relaxed.owl drinking behaviour biological_process owl:Class GO:0007631 biolink:NamedThing feeding behavior Behavior associated with the intake of food. tmpxe7fu0cj_hp_relaxed.owl feeding from plant phloem|hematophagy|taking of blood meal|feeding on blood of other organism|feeding from tissue of other organism|injection of substance into other organism during feeding on blood of other organism|behavioral response to food|feeding on or from other organism|feeding from vascular tissue of another organism|feeding behaviour|feeding from phloem of other organism|feeding on plant sap|feeding from xylem of other organism|behavioural response to food|eating https://github.com/geneontology/go-ontology/issues/18547 Wikipedia:List_of_feeding_behaviours See also the biological process term 'behavior ; GO:0007610'. jl 2011-10-27T03:53:33Z GO:0044366|GO:0044372|GO:0044367|GO:0044368|GO:0044369|GO:0044371|GO:0044370 biological_process owl:Class HP:0100525 biolink:NamedThing Urachus fistula Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:398320008|UMLS:C0345344|SNOMEDCT_US:50986000 doelkens 2010-12-20T11:40:58Z human_phenotype owl:Class HP:0009648 biolink:NamedThing Triangular shaped distal phalanx of the thumb Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped outermost bone of the thumb UMLS:C4024257 doelkens 2009-01-29T05:19:33Z human_phenotype owl:Class HP:0100506 biolink:NamedThing Low levels of vitamin B8 A reduced concentration of vitamin B8. tmpxe7fu0cj_hp_relaxed.owl Vitamin B8 deficiency UMLS:C4022037 doelkens 2010-12-17T06:13:04Z human_phenotype owl:Class HP:0010415 biolink:NamedThing Bullet-shaped distal phalanx of the 2nd toe An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped outermost bone of the 2nd toe UMLS:C4023841 doelkens 2009-07-16T12:44:41Z human_phenotype owl:Class HP:0003964 biolink:NamedThing Osteoporotic forearm bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025475 human_phenotype owl:Class PATO:0001878 biolink:NamedThing sigmoid A shape quality inhering in a bearer by virtue of the bearer's consisting of two curves, in opposite directions. S-shaped. tmpxe7fu0cj_hp_relaxed.owl S-shaped|sigmoidal quality owl:Class UBERON:0004795 biolink:NamedThing pancreas secretion A secretion that is part of a pancreas [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl secretion of pancreas|pancreatic secretion UMLS:C0030296|MA:0002516|NCIT:C13270 uberon owl:Class HP:0032401 biolink:NamedThing Aspartic aciduria A increased concentration of aspartic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 17:47:28+00:00 peter owl:Class HP:0040179 biolink:NamedThing Decreased level of platelet-activating factor tmpxe7fu0cj_hp_relaxed.owl Decreased level of PAF UMLS:C4073144 HPO:skoehler owl:Class HP:0034000 biolink:NamedThing Tracheal hemorrhage Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy. tmpxe7fu0cj_hp_relaxed.owl Tracheal bleeding 2021-08-21 14:33:33+00:00 peter owl:Class HP:0011536 biolink:NamedThing Right atrial isomerism Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest. tmpxe7fu0cj_hp_relaxed.owl MSH:D059446|UMLS:C3178806 peter 2012-04-07T10:36:52Z human_phenotype owl:Class HP:0011612 biolink:NamedThing Interrupted aortic arch type A Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:253681005|UMLS:C0345092 peter 2012-04-08T03:18:18Z human_phenotype owl:Class HP:0008586 biolink:NamedThing Hypoplasia of the cochlea Developmental hypoplasia of the cochlea. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped cochlea|Hypoplastic cochlea UMLS:C2676974 human_phenotype owl:Class HP:0011395 biolink:NamedThing Aplasia/Hypoplasia of the cochlea Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped cochlea|Absent/small cochlea UMLS:C4023378 hecht 2012-03-09T05:37:50Z human_phenotype owl:Class GO:0030642 biolink:NamedThing cellular sulfate ion homeostasis Any process involved in the maintenance of an internal steady state of sulfate ions at the level of a cell. tmpxe7fu0cj_hp_relaxed.owl sulphate ion homeostasis biological_process owl:Class HP:0007236 biolink:NamedThing Recurrent subcortical infarcts tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024918 human_phenotype owl:Class HP:0004017 biolink:NamedThing Exostoses of the radial metaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025442 human_phenotype owl:Class HP:0003986 biolink:NamedThing Exostoses of the radius tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025463 human_phenotype owl:Class HP:0012083 biolink:NamedThing Ubiquitin-positive cerebral inclusion bodies Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023052 peter 2012-08-18T05:34:56Z human_phenotype owl:Class HP:0100314 biolink:NamedThing Cerebral inclusion bodies Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022149 Inclusion bodies are usually derived from proteins. doelkens 2010-08-10T03:31:18Z human_phenotype owl:Class HP:0011147 biolink:NamedThing Typical absence seizure A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. tmpxe7fu0cj_hp_relaxed.owl Typical absence seizures|Typical absence SNOMEDCT_US:230413002|SNOMEDCT_US:50866000|MSH:D004832|SNOMEDCT_US:432241000124101|UMLS:C0014553|SNOMEDCT_US:79631006 In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. Typical absences have 2 essential components: (1) clinically the impairment of consciousness (absence), and (2) EEG generalized 3 Hz to 4 Hz (less than 2.5 Hz) spike and slow wave discharges. peter 2011-10-18T01:52:22Z owl:Class HP:0033280 biolink:NamedThing Paratracheal lymphadenopathy Enlargement of lymph nodes surrounding the trachea. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 18:19:06+00:00 peter owl:Class HP:0002211 biolink:NamedThing White forelock A triangular depigmented region of white hairs located in the anterior midline of the scalp. tmpxe7fu0cj_hp_relaxed.owl Poliosis of anterior hair|Poliosis of forelock hair|White part of hair above forehead SNOMEDCT_US:247564004|UMLS:C0344312 human_phenotype owl:Class HP:0004821 biolink:NamedThing Hypersegmentation of neutrophil nuclei An excessive division of the lobes of the nucleus of a neutrophil. tmpxe7fu0cj_hp_relaxed.owl Hypermature neutrophils|Hypersegmentation of neutrophil nuclei in peripheral blood UMLS:C4025288 Neutrophils usually display 3-4 nuclear lobes. Hypersegmented neutrophile nuclei display 5 or more lobes. This feature can be seen in vitamin B12 or folate deficiency or with other etiologies. human_phenotype owl:Class HP:0011202 biolink:NamedThing EEG with diffuse acceleration EEG frequency is abnormally increased. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023472 hecht 2011-11-19T11:23:55Z human_phenotype owl:Class HP:0010863 biolink:NamedThing Receptive language delay A delay in the acquisition of the ability to understand the speech of others. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:229736005|UMLS:C0454642 peter 2010-08-03T06:02:52Z owl:Class HP:0000750 biolink:NamedThing Delayed speech and language development A degree of language development that is significantly below the norm for a child of a specified age. tmpxe7fu0cj_hp_relaxed.owl Poor speech acquisition|Poor speech development|Delayed speech|Speech difficulties|Language development deficit|Language delayed|Delayed speech and language development|Delayed language development|Impaired speech development|Speech and language delay|Impaired speech and language development|Delayed speech development|Delayed speech acquisition|Speech and language difficulties|Deficiency of speech development|Poor language development|Speech delay|Language delay|Late-onset speech development UMLS:C0233715|UMLS:C0023012|SNOMEDCT_US:229721007|UMLS:C0454644|SNOMEDCT_US:62415009|SNOMEDCT_US:162294008|SNOMEDCT_US:29164008|UMLS:C0241210|MSH:D007805 Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. HP:0002116|HP:0002399|HP:0007127|HP:0007170|HP:0002498|HP:0007172|HP:0007004|HP:0006936|HP:0002117|HP:0002336 owl:Class HP:0012001 biolink:NamedThing EEG with generalized polyspikes EEG with repetitive generalized sharp transient waves of a duration less than 80 msec. tmpxe7fu0cj_hp_relaxed.owl EEG with generalised polyspikes UMLS:C4023088 hecht 2012-07-20T11:41:07Z human_phenotype owl:Class HP:0025559 biolink:NamedThing Coronary cataract A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. tmpxe7fu0cj_hp_relaxed.owl 2017-12-13 13:04:32+00:00 HPO:probinson owl:Class NBO:0000605 biolink:NamedThing sexual inhibition "A social behavior characterised by conscious or unconscious constraint or curtailment of behavior relating to specific sexual matters or practices." [wikipedia:Sexual_inhibition] tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T03:34:29Z George Gkoutos behavior_ontology owl:Class GO:0005740 biolink:NamedThing mitochondrial envelope The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class GO:0031967 biolink:NamedThing organelle envelope A double membrane structure enclosing an organelle, including two lipid bilayers and the region between them. In some cases, an organelle envelope may have more than two membranes. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0040050 biolink:NamedThing Sparse upper eyelashes tmpxe7fu0cj_hp_relaxed.owl Hypotrichosis of upper eyelashes|Partial absence of upper eyelashes|Sparse upper eyelashes UMLS:C4022468 HPO:skoehler owl:Class GO:0015631 biolink:NamedThing tubulin binding Binding to monomeric or multimeric forms of tubulin, including microtubules. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class GO:0008092 biolink:NamedThing cytoskeletal protein binding Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton). tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class GO:0006082 biolink:NamedThing organic acid metabolic process The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. tmpxe7fu0cj_hp_relaxed.owl organic acid metabolism biological_process owl:Class HP:0004749 biolink:NamedThing Atrial flutter A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. tmpxe7fu0cj_hp_relaxed.owl MSH:D001282|UMLS:C0004239|SNOMEDCT_US:5370000 Atrial flutter can lead to palpitations, fatigue, dyspnea, and chest pain. Atrial flutter can be paroxysmal or persistent. human_phenotype owl:Class HP:0030744 biolink:NamedThing Hyaloid vascular remnant and retrolental mass A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280790 owl:Class HP:0012730 biolink:NamedThing Aglossia Absence of the tongue owing to a developmental abnormality. tmpxe7fu0cj_hp_relaxed.owl Failure of development of tongue|Missing tongue|Absence of tongue UMLS:C0158663|SNOMEDCT_US:74788000 peter 2014-03-23T02:30:53Z human_phenotype owl:Class HP:0010111 biolink:NamedThing Short phalanx of hallux Underdevelopment (hypoplasia) of a phalanx of big toe. tmpxe7fu0cj_hp_relaxed.owl Short bone of big toe|Hypoplastic phalanges of the hallux UMLS:C4021334 doelkens 2009-05-29T12:49:19Z human_phenotype owl:Class HP:0031023 biolink:NamedThing Multiple mucosal neuromas Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. tmpxe7fu0cj_hp_relaxed.owl NCIT:C6559 peter 2017-05-21 13:18:01+00:00 owl:Class PR:000050171 biolink:NamedThing IgD immunoglobulin complex, circulating (human) An IgD immunoglobulin complex, circulating in human. Circulating IgD is composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains (kappa or lambda), held together by disulfide bonds, and present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpxe7fu0cj_hp_relaxed.owl hIgD/circulating|IgD antibody (human) Category=organism-complex. Requested by=HIPC. Requested by=CL. protein owl:Class UBERON:0010742 biolink:NamedThing bone of pelvic complex A bone that is part of a pelvic complex. Examples: pubis, ischium, fot phalanx, any tarsal bone, any bone of the pelvic fin or girdle. tmpxe7fu0cj_hp_relaxed.owl hindlimb bone MA:0000660|EMAPA:32633|EMAPA:35934 uberon owl:Class the MA class called 'hindlimb bone' belongs here, as it includes bones in the pelvic girdle HP:0009506 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 2nd finger Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of the outermost bone of the index finger UMLS:C4024324 doelkens 2009-01-16T01:11:04Z human_phenotype owl:Class UBERON:0010899 biolink:NamedThing synchronous hermaphroditic organism Hermaphroditic organism that produces both male and female gametes at the same time. tmpxe7fu0cj_hp_relaxed.owl serially hermaphroditic organism|simultaneous hermaphroditic organism HAO:0000046|AAO:0010046|TADS:0000609|CARO:0000046|BILA:0000046 uberon owl:Class UBERON:0007197 biolink:NamedThing hermaphroditic organism Multicellular organism that can produce both male and female gametes. tmpxe7fu0cj_hp_relaxed.owl hermaphrodite|dioecious organism HAO:0000029|BILA:0000029|AAO:0010035|CARO:0000029|TADS:0000601|WBbt:0007849 uberon owl:Class GO:0005765 biolink:NamedThing lysosomal membrane The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. tmpxe7fu0cj_hp_relaxed.owl lysosome membrane cellular_component owl:Class HP:0025478 biolink:NamedThing Atrial standstill Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram. tmpxe7fu0cj_hp_relaxed.owl Silent atrium 2017-05-14 13:28:03+00:00 HPO:probinson owl:Class HP:0004020 biolink:NamedThing Irregular ossification of the radial metaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025440 human_phenotype owl:Class UBERON:0014762 biolink:NamedThing fused metapodial bones 2-4 An element formed from the fusion of metapodium bones 2, 3 and 4 (i.e. either metatarsals 2-4 or metacarpals 3-4). tmpxe7fu0cj_hp_relaxed.owl metapodial 2+3+4|fused metapodials 2-4|fused central metapodials uberon owl:Class HP:0011629 biolink:NamedThing Total absence of the pericardium No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy. tmpxe7fu0cj_hp_relaxed.owl Absent pericardium|Congenital absence of the pericardium SNOMEDCT_US:253732001|UMLS:C0345140|Fyler:1910 peter 2012-04-08T10:06:22Z human_phenotype owl:Class HP:0009725 biolink:NamedThing Bladder neoplasm The presence of a neoplasm of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl Bladder tumour|Bladder tumor|Bladder cancer NCIT:C3262|UMLS:C0005695|SNOMEDCT_US:126885006|MSH:D001749 peter 2009-01-31T10:43:55Z human_phenotype owl:Class HP:0010786 biolink:NamedThing Urinary tract neoplasm The presence of a neoplasm of the urinary system. tmpxe7fu0cj_hp_relaxed.owl Urinary tract neoplasia UMLS:C0042076|SNOMEDCT_US:126879004|SNOMEDCT_US:254913005|NCIT:C3262|MSH:D014571 sdoelken 2010-05-04T09:45:25Z human_phenotype owl:Class CHEBI:78295 biolink:NamedThing food component A physiological role played by any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants. tmpxe7fu0cj_hp_relaxed.owl dietary components|food components|dietary component chebi_ontology owl:Class HP:0030590 biolink:NamedThing Abnormal Amsler grid test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073062 owl:Class HP:0009543 biolink:NamedThing Abnormality of the middle phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Abnormal middle index finger bone|Abnormality of middle 2nd finger phalanx UMLS:C4021448 doelkens 2009-01-21T10:17:15Z HP:0004131 human_phenotype owl:Class HP:0010294 biolink:NamedThing Palate fistula A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate. tmpxe7fu0cj_hp_relaxed.owl Palatal hole|Hole in roof of mouth|Palatal perforation UMLS:C4280385|UMLS:C2032780 peter 2009-07-12T11:39:52Z human_phenotype owl:Class HP:0031243 biolink:NamedThing Decreased VLDL cholesterol concentration A reduction in the amount of very-low-density lipoprotein cholesterol in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased circulating very-low-density lipoprotein levels 2017-08-08 11:27:32+00:00 peter owl:Class HP:0030007 biolink:NamedThing EMG: positive sharp waves These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:251527008|UMLS:C0429349 owl:Class HP:0003482 biolink:NamedThing EMG: axonal abnormality Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025609 This is a bundled term that is kept for convenience. It is preferable to record the precise clinical observations. owl:Class HP:0032630 biolink:NamedThing Intratubular light-chain casts The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. tmpxe7fu0cj_hp_relaxed.owl This feature can be ascertained by (i) Light microscopy: The biopsy shows chronic tubulointerstitial nephritis with fractured casts that first involve the distal tubules. The casts have a metachromatic appearance due to their mixed composition of light chain (Bence-Jones) and Tamm-Horsfall (uromodulin) proteins. Surrounding cellular reaction can extend to formation of syncytial giant cells, and in the early phase may be a polymorphonuclear granulocyte reaction. (ii) Immunofluorescence microscopy: Monoclonal staining of casts for either kappa or lambda light chains confirm the diagnosis, but clonal staining may be absent in some cases. Staining of formalin-fixed paraffin-embedded material after pronase digestion may unmask clonal staining in some of these cases. (iii) Electron microscopy: Glomeruli are unremarkable, and casts show granular electron-dense material. Crystalline substructure may be seen within these light chain casts. In rare cases, deposits of amyloid may form on the surface of the casts. peter owl:Class GO:0086065 biolink:NamedThing cell communication involved in cardiac conduction Any process that mediates interactions between a cell and its surroundings that contributes to the process of cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpxe7fu0cj_hp_relaxed.owl dph 2011-11-22T08:57:02Z biological_process owl:Class CHEBI:27638 biolink:NamedThing cobalt atom A cobalt group element atom that has atomic number 27. tmpxe7fu0cj_hp_relaxed.owl Cobalt|Kobalt|27Co|cobalt|Co|cobalto|cobaltum 0 Co InChI=1S/Co GUTLYIVDDKVIGB-UHFFFAOYSA-N 58.93320 58.93319 [Co] KEGG:C00175|KEGG:C19171|PDBeChem:3CO|CAS:7440-48-4|WebElements:Co CHEBI:3788|CHEBI:23335 chebi_ontology owl:Class CHEBI:33358 biolink:NamedThing cobalt group element atom tmpxe7fu0cj_hp_relaxed.owl cobalt group elements|cobalt group element|group 9 elements chebi_ontology owl:Class HP:0033290 biolink:NamedThing Glomerular subendothelial widening Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 21:22:38+00:00 peter owl:Class HP:0100104 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the outermost bone of the 2nd toe UMLS:C4022317 doelkens 2010-06-24T10:04:20Z human_phenotype owl:Class HP:0100048 biolink:NamedThing Fragmentation of the epiphyses of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the 2nd toe bone UMLS:C4022373 doelkens 2010-06-24T09:58:18Z human_phenotype owl:Class UBERON:0004297 biolink:NamedThing respiratory system blood vessel smooth muscle A blood vessel smooth muscle that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl smooth muscle tissue of blood vessel of respiratory system EMAPA:37573|MA:0001806 uberon owl:Class UBERON:0004225 biolink:NamedThing respiratory system smooth muscle A portion of smooth muscle tissue that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl respiratory smooth muscle|smooth muscle of respiratory system|airway smooth muscle|airway smooth muscle cell BTO:0001660|MA:0001830|EMAPA:35734 uberon owl:Class HP:0008959 biolink:NamedThing Distal upper limb muscle weakness Reduced strength of the distal musculature of the arms. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3150620 human_phenotype owl:Class HP:0002460 biolink:NamedThing Distal muscle weakness Reduced strength of the musculature of the distal extremities. tmpxe7fu0cj_hp_relaxed.owl Weakness of outermost muscles|Weakness of distal muscles|Distal limb muscle weakness|Muscle weakness, distal|Muscle weakness, distal limbs, due to neuronopathy|Distal limb muscle weakness due to peripheral neuropathy|Distal muscular weakness|Distal limb weakness|Distal paresis SNOMEDCT_US:249942005|UMLS:C1864696|UMLS:C0427065 Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric. HP:0003497|HP:0002598|HP:0009008|HP:0006940|HP:0002935 human_phenotype owl:Class HP:0500133 biolink:NamedThing Hypotyrosinemia An decreased concentration of tyrosine in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood tyrosine concentration|Decreased tyrosine in blood 2018-10-01 15:01:56+00:00 owl:Class HP:0010917 biolink:NamedThing Abnormal circulating tyrosine concentration Any deviation from the normal concentration of tyrosine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023653 peter 2010-12-08T09:13:53Z human_phenotype owl:Class HP:0009593 biolink:NamedThing Peripheral Schwannoma The presence of a peripheral schwannoma. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024276 A Peripheral Schwannoma (also known as neurilemoma) is a benign, usually encapsulated neoplasm derived from Schwann cells. peter 2009-01-28T10:55:58Z human_phenotype owl:Class GO:2001027 biolink:NamedThing negative regulation of endothelial cell chemotaxis Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell chemotaxis. tmpxe7fu0cj_hp_relaxed.owl rl 2011-08-22T01:07:31Z biological_process owl:Class GO:0010596 biolink:NamedThing negative regulation of endothelial cell migration Any process that decreases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0026386 biolink:NamedThing lumbar spinal cord white matter tmpxe7fu0cj_hp_relaxed.owl lumbar spinal cord white matter BIRNLEX:1639 uberon owl:Class HP:5000020 biolink:NamedThing Anti-LGI1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1). tmpxe7fu0cj_hp_relaxed.owl Anti-Anti-leucine-rich glioma-inactivated 1 antibody ORCID:0000-0002-3387-1836 owl:Class UBERON:0018508 biolink:NamedThing foramen of nasal bone A vascular foramen opening on the outer surface of a nasal bone. tmpxe7fu0cj_hp_relaxed.owl foramina nasalia|foramen of nasal bone|nasal foramen|nasal foramina FMA:57653 uberon owl:Class HP:0002145 biolink:NamedThing Frontotemporal dementia A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0338451|MSH:D057180|SNOMEDCT_US:230270009 owl:Class HP:0000726 biolink:NamedThing Dementia A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. tmpxe7fu0cj_hp_relaxed.owl Dementia, progressive|Dementia|Progressive dementia MSH:D003704|UMLS:C0497327|SNOMEDCT_US:52448006 HP:0007283|HP:0002274|HP:0007150|HP:0007122 human_phenotype owl:Class UBERON:0006239 biolink:NamedThing future central tendon A tendon that has the potential to develop into a central tendon. tmpxe7fu0cj_hp_relaxed.owl cranial derivative of septum transversum|cranial part of septum transversum EHDAA:4118|EHDAA2:0000593|EMAPA:25035 uberon owl:Class The cranial part of the septum transversum gives rise to the central tendon of the diaphragm and is the origin of the myoblasts that invade the pleuroperitoneal folds resulting in the formation of the muscular diaphragm. UBERON:0014504 biolink:NamedThing proximal phalanx of digit 4 A proximal phalanx that is part of a autopod digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal phalanx of ring digit|proximal phalanx of 4th digit|proximal phalanx of digit IV|proximal phalanx of fourth digit|autopod digit 4 proximal phalanx|proximal phalanx of fourth digit of autopod|digit IV-1|4th digit of autopod proximal phalanx|4th digit proximal phalanx|fourth proximal phalanx of autopod|proximal phalanx of 4th digit of autopod|fourth digit proximal phalanx|digit IV P1 uberon owl:Class UBERON:0034898 biolink:NamedThing alveolar ridge of premaxilla The thickened ridge of bone that contains the tooth sockets on the premaxilla. tmpxe7fu0cj_hp_relaxed.owl pars dentalis of premaxilla AAO:0000397 uberon owl:Class GO:0060295 biolink:NamedThing regulation of cilium movement involved in cell motility Any process that modulates the rate frequency or extent of cilium movement involved in ciliary motility. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0005712 biolink:NamedThing midgut duodenum mesentery A mesentery of duodenum that is part of a midgut. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001193 uberon owl:Class HP:0010192 biolink:NamedThing Triangular shaped distal phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Triangular shaped outermost bone of the toes UMLS:C4023977 doelkens 2009-05-29T01:52:41Z human_phenotype owl:Class HP:0004261 biolink:NamedThing Wide hamate bone tmpxe7fu0cj_hp_relaxed.owl Wide unciform bone|Broad hamate bone UMLS:C4021667 human_phenotype owl:Class HP:0009890 biolink:NamedThing High anterior hairline Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. tmpxe7fu0cj_hp_relaxed.owl High frontal hairline UMLS:C3276036 This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead. peter 2009-04-30T06:34:27Z owl:Class HP:0012059 biolink:NamedThing Lentigo maligna melanoma A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2739810|SNOMEDCT_US:44474009|SNOMEDCT_US:302837001 peter 2012-08-01T02:16:45Z human_phenotype owl:Class HP:0031107 biolink:NamedThing Decreased fibular diameter Reduced width of the cross sectional diameter of the fibula. tmpxe7fu0cj_hp_relaxed.owl Thin fibula 2017-05-30 03:09:49+00:00 peter owl:Class HP:0032699 biolink:NamedThing Focal cognitive seizure with dysgraphia/agraphia A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl Dysgraphia / agraphia is difficulty in writing. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. peter owl:Class CHEBI:33563 biolink:NamedThing glycolipid Any member of class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar part acylated by one or more fatty acids and the glycerol part may be absent. tmpxe7fu0cj_hp_relaxed.owl glycolipids|Glycolipid Wikipedia:Glycolipids|KEGG:C05005 CHEBI:5476|CHEBI:24393 chebi_ontology owl:Class HP:0000064 biolink:NamedThing Hypoplastic labia minora tmpxe7fu0cj_hp_relaxed.owl Underdeveloped inner lips UMLS:C1849295 owl:Class HP:0012880 biolink:NamedThing Abnormal labia minora morphology An anomaly of the labia minora, the folds of skin between the outer labia. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the inner vaginal lips|Abnormality of the labia minora UMLS:C4022696 2014-06-11T07:44:31Z owl:Class CHEBI:25375 biolink:NamedThing monoamine molecular messenger A group of neurotransmitters and neuromodulators that contain one amino group that is connected to an aromatic ring by ethylene group (-CH2-CH2-). Monoamines are derived from the aromatic amino acids phenylalanine, tyrosine, histidine and tryptophan. tmpxe7fu0cj_hp_relaxed.owl monoamines|monamines chebi_ontology owl:Class HP:0040014 biolink:NamedThing Increased mitochondrial number tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022492 HPO:skoehler owl:Class GO:0014044 biolink:NamedThing Schwann cell development The process aimed at the progression of a Schwann cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. Schwann cells are found in the peripheral nervous system, where they insulate neurons and axons, and regulate the environment in which neurons function. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0030834 biolink:NamedThing Shoulder pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder. tmpxe7fu0cj_hp_relaxed.owl Shoulder pain UMLS:C0037011|MSH:D020069|SNOMEDCT_US:45326000 owl:Class HP:0033805 biolink:NamedThing Non-necrotizing granuloma A granuloma which is not associated with necrotic changes. tmpxe7fu0cj_hp_relaxed.owl 2021-05-08 15:11:03+00:00 peter owl:Class UBERON:0003579 biolink:NamedThing shoulder connective tissue A portion of connective tissue that is part of a shoulder [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl portion of connective tissue of shoulder|connective tissue of shoulder|shoulder textus connectivus|textus connectivus of shoulder|shoulder portion of connective tissue EMAPA:37315|MA:0000632 uberon owl:Class HP:0009497 biolink:NamedThing Stippling of the epiphyses of the 2nd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of the index finger UMLS:C4024329 doelkens 2009-01-16T01:07:16Z human_phenotype owl:Class HP:0002299 biolink:NamedThing Brittle hair Fragile, easily breakable hair, i.e., with reduced tensile strength. tmpxe7fu0cj_hp_relaxed.owl Reduced tensile strength of hair|Easily breakable hair|Brittle hair|Fractured hair|Fragile hair UMLS:C0263490|SNOMEDCT_US:25159003|UMLS:C1851868|UMLS:C4072837|UMLS:C1970705 Brittle is used to describe hair which is very short because of an abnormality is in the structure of the shaft. Microscopically the ends appear fractured. Affected patients may report bits of hair on the collar or pillow. Brittle hair can be distinguished from hypotrichosis due to slow or deficient growth (e.g., due to hypotrichosis simplex) and hypotrichosis due to the hair being fine and soft where the hair just wears out too quickly (e.g., due to ectodermal dysplasia). human_phenotype owl:Class HP:0033908 biolink:NamedThing Renal arteriole medial atrophy Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 22:55:09+00:00 peter owl:Class UBERON:0002092 biolink:NamedThing brain dura mater The fibrous membrane forming the outer of the three coverings that surrounds the brain within the cranial cavity; consists of two layers including the periosteal layer and the meningeal layer. tmpxe7fu0cj_hp_relaxed.owl dura mater cranialis|dura mater of brain|cranial dura mater|dura mater encephali UMLS:C0459393|EV:0100313|MA:0000815|NCIT:C49332|VHOG:0000270|FMA:71236|SCTID:309321003|EMAPA:32668 uberon owl:Class The outermost and densest membrane of the three mammalian meninges covering the brain and spinal cord. [Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier, adapted_from_Dorian_AF][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] GO:0042482 biolink:NamedThing positive regulation of odontogenesis Any process that activates or increases the frequency, rate or extent of the formation and development of a tooth or teeth. tmpxe7fu0cj_hp_relaxed.owl stimulation of odontogenesis|positive regulation of odontogenesis of calcareous or chitinous tooth|activation of odontogenesis|up-regulation of odontogenesis|positive regulation of tooth development|up regulation of odontogenesis|upregulation of odontogenesis GO:0042485 biological_process owl:Class HP:0009916 biolink:NamedThing Anisocoria Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. tmpxe7fu0cj_hp_relaxed.owl Unequal pupil size|Unequal pupil dilatation|Asymmetry of the pupils|Asymmetric pupil sizes MSH:D015875|SNOMEDCT_US:13045009|UMLS:C0003079 Pathologic anisocoria can reflect an abnormality of the musculature of the iris or of the sympathetic or prasympathetic innervation of the iris. peter 2009-05-02T05:46:50Z human_phenotype owl:Class HP:0005873 biolink:NamedThing Polysyndactyly of hallux Combined syndactyly and polydactyly of the great toe. tmpxe7fu0cj_hp_relaxed.owl Polysyndactyly of great toe|Polysyndactyly of big toe UMLS:C4021618 human_phenotype owl:Class HP:0001841 biolink:NamedThing Preaxial foot polydactyly Duplication of all or part of the first ray. tmpxe7fu0cj_hp_relaxed.owl Preaxial polydactyly of the feet|Polydactyly affecting the hallux|Preaxial hallucal polydactyly|Preaxial polydactyly, feet|Preaxial polydactyly of foot|Partial/complete duplication of the phalanges of the big toe|Preaxial polydactyly of feet UMLS:C1866339|UMLS:C2112942|MSH:C566632 This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet. HP:0010050|HP:0009607 human_phenotype owl:Class HP:0033430 biolink:NamedThing Non-infectious meningitis Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 17:52:39+00:00 peter owl:Class HP:0400000 biolink:NamedThing Tall chin Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin. tmpxe7fu0cj_hp_relaxed.owl Increased height of menton region|Vertical excess of chin|Long lower third of face|Tall chin|Increased height of chin|Vertical hyperplasia of chin|Long chin UMLS:C4021875|UMLS:C3532221|SNOMEDCT_US:471397004 owl:Class GO:0090275 biolink:NamedThing negative regulation of somatostatin secretion Any process that decreases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. tmpxe7fu0cj_hp_relaxed.owl tb 2010-02-05T02:54:14Z biological_process owl:Class UBERON:0034681 biolink:NamedThing vocal organ Any organ that is the primary organ of vocalization behavior. Examples: The laryngeal vocal cord (humans), the syrinx (birds). tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0030651 biolink:NamedThing Multifocal tmpxe7fu0cj_hp_relaxed.owl UMLS:C0205292|SNOMEDCT_US:524008 owl:Class HP:0001800 biolink:NamedThing Hypoplastic toenails Underdevelopment of the toenail. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped toenails UMLS:C1837279 human_phenotype owl:Class UBERON:8410034 biolink:NamedThing lymph node artery An artery that enters the lymph node at the hilum and branches into smaller arterioles. tmpxe7fu0cj_hp_relaxed.owl artery of lymph node|hilar artery of lymph node uberon owl:Class HP:0002267 biolink:NamedThing Exaggerated startle response An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. tmpxe7fu0cj_hp_relaxed.owl Exaggerated acoustic startle response|Hyperekplexia|Increased startle response UMLS:C1836014|MSH:D000071017|UMLS:C0234166|SNOMEDCT_US:19557000|UMLS:C1848918|UMLS:C1740801 human_phenotype owl:Class UBERON:0000971 biolink:NamedThing ommatidium The smallest morphological and functional unit of the compound eye that consists of a usually limited and often constant number of rhabdomeric photoreceptor cells, cornea-secreting epithelial cells, and interommatidial pigment cells, and may additionally contain crystalline cone cells. tmpxe7fu0cj_hp_relaxed.owl omatidia|omatidium BTO:0001922|MIAA:0000143|FBbt:00004510|Wikipedia:Ommatidium|HAO:0000666|MAT:0000143 uberon owl:Class ommatidial HP:0005502 biolink:NamedThing Increased red cell osmotic fragility tmpxe7fu0cj_hp_relaxed.owl Increased erythrocyte osmotic fragility|Increased red cell fragility UMLS:C1849478 human_phenotype owl:Class HP:0031845 biolink:NamedThing Abnormal libido Any deviation from the normal sexual drive or desire for sexual activity. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 15:32:59+00:00 peter owl:Class HP:0006552 biolink:NamedThing Fibrocystic lung disease tmpxe7fu0cj_hp_relaxed.owl UMLS:C1397290 human_phenotype owl:Class HP:0010396 biolink:NamedThing Broad proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Broad innermost bone of 2nd toe UMLS:C4023858 doelkens 2009-07-16T11:58:15Z human_phenotype owl:Class HP:0010204 biolink:NamedThing Broad proximal phalanx of toe An increase in width of one ore more proximal toe phalanges. tmpxe7fu0cj_hp_relaxed.owl Broad innermost toe bone UMLS:C4023971 doelkens 2009-05-29T01:54:18Z owl:Class CHEBI:57433 biolink:NamedThing sarcosine zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of sarcosine; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl (methylammonio)acetate|sarcosine|(methylazaniumyl)acetate|2-(methylazaniumyl)acetate 0 C3H7NO2 InChI=1S/C3H7NO2/c1-4-2-3(5)6/h4H,2H2,1H3,(H,5,6) FSYKKLYZXJSNPZ-UHFFFAOYSA-N 89.09320 89.04768 C[NH2+]CC([O-])=O MetaCyc:SARCOSINE|Gmelin:323777 chebi_ontology owl:Class CHEBI:37163 biolink:NamedThing glucan A polysaccharide composed of glucose residues. tmpxe7fu0cj_hp_relaxed.owl glucan|Glucan|glucans C12H22O11(C6H10O5)n CAS:9037-91-6|KEGG:C01379 CHEBI:24255|CHEBI:5392 chebi_ontology owl:Class HP:0012661 biolink:NamedThing Hypothalamic hypometabolism in FDG PET Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022795 Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the hypothalamus. peter 2014-02-15T11:37:59Z human_phenotype owl:Class HP:0009921 biolink:NamedThing Duane anomaly A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction tmpxe7fu0cj_hp_relaxed.owl Limited eye motility from Duane anomaly|Limited eye movement from Duane anomaly|Globe retraction and deviation on adduction UMLS:C4072873|MSH:D004370|SNOMEDCT_US:60318001|UMLS:C0013261|UMLS:C1846464 peter 2009-05-02T06:32:41Z HP:0001109 owl:Class UBERON:0004396 biolink:NamedThing epiphysis of second metatarsal bone An epiphysis that is part of a metatarsal bone of digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl second metatarsal bone epiphysis|metatarsal 2 epiphysis FMA:33816 uberon owl:Class HP:0002376 biolink:NamedThing Developmental regression Loss of developmental skills, as manifested by loss of developmental milestones. tmpxe7fu0cj_hp_relaxed.owl Loss of developmental milestones|Psychomotor regression in infants|Mental deterioration in childhood|Psychomotor regression beginning in infancy|Psychomotor regression, progressive|Psychomotor regression|Neurodevelopmental regression UMLS:C1836830|UMLS:C1850493|SNOMEDCT_US:609225004|UMLS:C1855019|UMLS:C1855009|UMLS:C1859678|UMLS:C1855996|UMLS:C1857121|UMLS:C1836550 Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones. HP:0007037|HP:0006854|HP:0002489|HP:0007247|HP:0006828|HP:0002471|HP:0007242|HP:0006797 human_phenotype owl:Class CHEBI:35969 biolink:NamedThing 3-hydroxy monocarboxylic acid A hydroxy monocarboxylic acid that has a hydroxy group beta to the carboxy group. tmpxe7fu0cj_hp_relaxed.owl 3-hydroxy acid|beta-hydroxy acid|beta-hydroxy carboxylic acids|beta-hydroxy carboxylic acid|beta-hydroxy acids|3-hydroxy monocarboxylic acids chebi_ontology owl:Class HP:0032433 biolink:NamedThing Decreased HDL3c concentration A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:51:30+00:00 peter owl:Class HP:0032427 biolink:NamedThing Abnormal HDL3c concentration Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:49:12+00:00 peter owl:Class HP:0000963 biolink:NamedThing Thin skin Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. tmpxe7fu0cj_hp_relaxed.owl Thin skin UMLS:C0423757|SNOMEDCT_US:277797007 HP:0001020 human_phenotype owl:Class HP:0009373 biolink:NamedThing Type C brachydactyly tmpxe7fu0cj_hp_relaxed.owl UMLS:C1862103|MSH:C537093 doelkens 2009-01-13T10:50:19Z human_phenotype owl:Class HP:0008956 biolink:NamedThing Proximal lower limb amyotrophy Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. tmpxe7fu0cj_hp_relaxed.owl Amyotrophy involving the thigh|Amyotrophy of the thigh musculature|Wasting of thigh muscle|Proximal lower limb muscle atrophy|Thigh muscle atrophy UMLS:C1836767 HP:0003748|HP:0008974 human_phenotype owl:Class HP:0011969 biolink:NamedThing Elevated circulating luteinizing hormone level An elevated concentration of luteinizing hormone in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated LH level|Increased circulating luteinizing hormone level|Elevated luteinizing hormone UMLS:C4023101 peter 2012-07-18T08:36:09Z HP:0030343 human_phenotype owl:Class HP:0000837 biolink:NamedThing Increased circulating gonadotropin level Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. tmpxe7fu0cj_hp_relaxed.owl Elevated serum gonadotropins|Gonadotropin excess|Increased circulating gonadotropin level|Elevated gonadotropins UMLS:C1862265 HP:0030340 human_phenotype owl:Class HP:0011430 biolink:NamedThing Hypoplasia of fetal nasal bone On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637). tmpxe7fu0cj_hp_relaxed.owl Underdeveloped fetal nose bone|Underdeveloped foetal nose bone|Hypoplasia of foetal nasal bone UMLS:C4023363 peter 2012-03-17T07:08:30Z owl:Class UBERON:0004428 biolink:NamedThing proximal epiphysis of second metatarsal bone A proximal epiphysis that is part of a metatarsal bone of digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal end of second metatarsal bone|base of second metatarsal bone|proximal epiphysis of metatarsal 2 FMA:42964 uberon owl:Class HP:0200018 biolink:NamedThing Protanomaly A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. tmpxe7fu0cj_hp_relaxed.owl Red-weak|Colorblindness, partial, protan series MSH:D003117|UMLS:C3887980|SNOMEDCT_US:51445007|UMLS:C0155015 Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green. sebastiankohler 2010-06-16T12:55:24Z HP:0200019 human_phenotype owl:Class HP:0430020 biolink:NamedThing Abnormality of levator labii superioris alaeque nasi muscle An abnormality of the levator labii superioris alaeque nasi muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073202 owl:Class HP:0031408 biolink:NamedThing Increased proportion of CD25+ mast cells An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). tmpxe7fu0cj_hp_relaxed.owl 2017-09-04 11:55:41+00:00 Mast cells do not normally express CD25, but neoplastic mast cells may be CD25-positive. Aberrant expression of CD2 and/or CD25 by bone marrow, peripheral blood or other extracutaneous tissue mast cells is currently used as a minor World Health Organization diagnostic criterion for systemic mastocytosis. CD25 expression alone presented a similar sensitivity (100%) with a slightly higher specificity (99.2%). peter owl:Class HP:0100494 biolink:NamedThing Abnormal mast cell morphology Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of mast cells|Abnormality of mastocytes UMLS:C1301149|SNOMEDCT_US:397017008 Mast cells (or mastocytes) can be found in several types of tissues and contain many granules rich in histamine and heparin. Although best known for their role in allergy and anaphylaxis, mast cells play an important protective role as well, being intimately involved in wound healing and defense against pathogens. Mast cells possess a non-lobed nucleus and can work with basophils in the immune defense against worms. Their cell membrane is covered with Fc recepros that may be attached to class E antibodies. doelkens 2010-12-17T04:02:08Z human_phenotype owl:Class GO:0003228 biolink:NamedThing atrial cardiac muscle tissue development The process whose specific outcome is the progression of cardiac muscle of the atrium over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl atrial myocardium development dph 2009-10-13T10:53:18Z biological_process owl:Class HP:0025016 biolink:NamedThing Abnormal capillary morphology A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. tmpxe7fu0cj_hp_relaxed.owl 2016-08-12 11:42:27+00:00 HPO:probinson owl:Class HP:0040296 biolink:NamedThing Abnormal location of the eyebrow Anomalous anatomical placement of the eyebrow. tmpxe7fu0cj_hp_relaxed.owl Abnormally placed eyebrows|Abnormal location of eyebrows owl:Class HP:0100070 biolink:NamedThing Fragmentation of the epiphyses of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the 4th toe bone UMLS:C4022351 doelkens 2010-06-24T09:59:30Z human_phenotype owl:Class HP:0000967 biolink:NamedThing Petechiae Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0031256|SNOMEDCT_US:50091001|MEDDRA:10034754|MSH:D011693|SNOMEDCT_US:271813007 owl:Class HP:0031365 biolink:NamedThing Macular purpura Purpura that is flat (non-palpable, not raised). tmpxe7fu0cj_hp_relaxed.owl Flat purpura 2017-08-29 12:35:34+00:00 peter owl:Class CL:0000467 biolink:NamedThing adrenocorticotropic hormone secreting cell A peptide hormone secreting cell that produces adrenocorticotropin, or corticotropin. tmpxe7fu0cj_hp_relaxed.owl adrenocorticotrophic hormone secreting cell|corticotrophin hormone secreting cell|ACTH secreting cell|corticotropin secreting cell|corticotropin hormone secreting cell CL:0000640 cell owl:Class HP:0000446 biolink:NamedThing Narrow nasal bridge Decreased width of the bony bridge of the nose. tmpxe7fu0cj_hp_relaxed.owl Pinched bridge of nose|Narrow bridge of nose|Nasal bridge, thin|Pinched nasal bridge|Narrow nasal bridge|Narrow nasal root|Nasal Bridge, Narrow UMLS:C4551564 The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age. HP:0100782 owl:Class HP:0002825 biolink:NamedThing Caudal appendage The presence of a tail-like skin appendage located adjacent to the sacrum. tmpxe7fu0cj_hp_relaxed.owl Human tail|Coccygeal tail UMLS:C3277117 human_phenotype owl:Class GO:0051891 biolink:NamedThing positive regulation of cardioblast differentiation Any process that activates or increases the frequency, rate or extent of cardioblast differentiation, the process in which a relatively unspecialized mesodermal cell acquires the specialized structural and/or functional features of a cardioblast. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating. tmpxe7fu0cj_hp_relaxed.owl up regulation of cardioblast differentiation|stimulation of cardioblast differentiation|activation of cardioblast differentiation|upregulation of cardioblast differentiation|up-regulation of cardioblast differentiation biological_process owl:Class HP:0032869 biolink:NamedThing Focal non-convulsive status epilepticus without impairment of consciousness Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact. tmpxe7fu0cj_hp_relaxed.owl Aura continua|Focal non-convulsive status epilepticus with retained awareness|Focal non-convulsive status epilepticus without impairment of awareness Semiology may include autonomic, sensory, visual, olfactory, gustatory, emotional/psychic/experiential, or cognitive symptoms. In 2015, the ILAE Task Force on Classification of Status Epilepticus did not propose a specific time t1 (indicating the time that emergency treatment should be started because the seizure is unlikely to terminate spontaneously) or t2 (the time at which long-term consequences of the seizure may be expected) for focal status epilepticus without impaired consciousness. peter owl:Class HP:0032673 biolink:NamedThing Focal non-convulsive status epilepticus without coma Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure. tmpxe7fu0cj_hp_relaxed.owl Semiology may include autonomic, sensory, visual, olfactory, gustatory, emotional/psychic/experiential, or cognitive symptoms. Consciousness or awareness may be intact or impaired. peter owl:Class HP:0010150 biolink:NamedThing Bracket epiphysis of the 1st metatarsal The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of 1st long bone of foot UMLS:C4024009 doelkens 2009-05-29T01:24:17Z human_phenotype owl:Class GO:1902251 biolink:NamedThing negative regulation of erythrocyte apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of erythrocyte apoptotic process. tmpxe7fu0cj_hp_relaxed.owl inhibition of RBC apoptosis|down regulation of RBC apoptotic process|down-regulation of erythrocyte apoptosis|down-regulation of red blood cell apoptosis|downregulation of RBC apoptosis|downregulation of erythrocyte apoptotic process|inhibition of erythrocyte apoptosis|inhibition of red blood cell apoptotic process|down regulation of red blood cell apoptotic process|downregulation of RBC apoptotic process|inhibition of red blood cell apoptosis|down-regulation of erythrocyte apoptotic process|downregulation of erythrocyte apoptosis|down-regulation of RBC apoptosis|inhibition of RBC apoptotic process|down-regulation of red blood cell apoptotic process|negative regulation of erythrocyte apoptosis|negative regulation of RBC apoptotic process|negative regulation of red blood cell apoptosis|negative regulation of red blood cell apoptotic process|down-regulation of RBC apoptotic process|downregulation of red blood cell apoptosis|down regulation of RBC apoptosis|downregulation of red blood cell apoptotic process|negative regulation of RBC apoptosis|down regulation of erythrocyte apoptotic process|down regulation of red blood cell apoptosis|inhibition of erythrocyte apoptotic process|down regulation of erythrocyte apoptosis rl 2013-06-20T19:30:59Z biological_process owl:Class HP:0011956 biolink:NamedThing Intestinal lymphoid nodular hyperplasia A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023109 peter 2012-06-21T09:27:07Z human_phenotype owl:Class CHEBI:25367 biolink:NamedThing molecule Any polyatomic entity that is an electrically neutral entity consisting of more than one atom. tmpxe7fu0cj_hp_relaxed.owl neutral molecular compounds|molecule|molecula|molecules|Molekuel chebi_ontology owl:Class HP:0100170 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the outermost bone of the 4th toe UMLS:C4022251 doelkens 2010-06-24T04:53:36Z human_phenotype owl:Class HP:0100067 biolink:NamedThing Bracket epiphyses of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of 4th toe bone UMLS:C4022354 doelkens 2010-06-24T09:59:30Z human_phenotype owl:Class CHEBI:47042 biolink:NamedThing hydroxycalciol tmpxe7fu0cj_hp_relaxed.owl hydroxycholecalciferol|hydroxycalciols|hydroxycholecalciferols|hydroxycalciol chebi_ontology owl:Class UBERON:0009291 biolink:NamedThing cartilaginous vertebral centrum Cartilaginous form of a vertebral centrum, a skeletal element that functionally replaces the notochord[VSAP,modified]. tmpxe7fu0cj_hp_relaxed.owl postcaudal cartilaginous centrum|cartilaginous centrum of vertebra cartilaginous centrum of vertebra[PMID:11746457] uberon owl:Class HP:0100165 biolink:NamedThing Small epiphysis of the proximal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Small end part of the innermost bone of the 3rd toe UMLS:C4022256 doelkens 2010-06-24T10:24:45Z human_phenotype owl:Class HP:0010661 biolink:NamedThing Absence of the third cerebral ventricle A developmental defect characterized by the absence of the third ventricle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023753 peter 2010-02-26T08:00:47Z owl:Class HP:0011663 biolink:NamedThing Right ventricular cardiomyopathy Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease. tmpxe7fu0cj_hp_relaxed.owl Cardiomyopathy, right ventricular|Cardiomyopathy, esp. right ventricular UMLS:C2063326 This feature is most often seen in the disease arrhythmogenic right ventricular cardiomyopathy (ARVC). ARVC is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria. peter 2012-04-09T11:14:59Z human_phenotype owl:Class HP:0005928 biolink:NamedThing Synostosis involving the fibula tmpxe7fu0cj_hp_relaxed.owl Bone fusion involving the calf bones UMLS:C4025104 peter 2008-03-27T02:34:00Z human_phenotype owl:Class HP:0003737 biolink:NamedThing Mitochondrial myopathy A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:16851005|MSH:D017240|UMLS:C0162670 This is a bundled term that should not be used for future annotations. HP:0008960 human_phenotype owl:Class HP:0006201 biolink:NamedThing Hypermobility of distal interphalangeal joints tmpxe7fu0cj_hp_relaxed.owl Increased mobility of outermost hinge joint UMLS:C1851811 human_phenotype owl:Class HP:0005620 biolink:NamedThing Hypermobility of interphalangeal joints The ability of the interphalangeal joints to move beyond their normal range of motion. tmpxe7fu0cj_hp_relaxed.owl Increased mobility of hinge joints UMLS:C4025172 human_phenotype owl:Class GO:1903431 biolink:NamedThing positive regulation of cell maturation tmpxe7fu0cj_hp_relaxed.owl owl:Class MAXO:0010352 biolink:NamedThing head radiograph procedure Use of an imaging test that uses small amounts of radiation to produce pictures of head. tmpxe7fu0cj_hp_relaxed.owl radiograph of head|radiography of head|head radiogram procedure|head X-ray procedure 2020-04-07T20:39:14Z http://orcid.org/0000-0001-7941-2961 owl:Class HP:0031643 biolink:NamedThing Fusiform ascending tubular aorta aneurysm An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 14:02:25+00:00 peter owl:Class HP:0004970 biolink:NamedThing Ascending tubular aorta aneurysm An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. tmpxe7fu0cj_hp_relaxed.owl Bulging of wall of large artery located above heart|Ascending aortic aneurysm|Aneurysm of the ascending tubular aorta|Ascending aorta dilation|Dilatation of ascending aorta|Ascending aortic dilation SNOMEDCT_US:253645007|Fyler:2310|Fyler:2701|UMLS:C0345049 Aneurysm is considered a severe form of dilatation. HP:0005111|HP:0005128 owl:Class CL:0000328 biolink:NamedThing myelin accumulating cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0030746 biolink:NamedThing Intraventricular hemorrhage Bleeding into the ventricles of the brain. tmpxe7fu0cj_hp_relaxed.owl Intraventricular haemorrhage SNOMEDCT_US:23276006|UMLS:C0240059 owl:Class HP:0003193 biolink:NamedThing Allergic rhinitis It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. tmpxe7fu0cj_hp_relaxed.owl Nasal allergies|Hayfever|Hay fever UMLS:C2607914|UMLS:C0847614|MSH:D065631|SNOMEDCT_US:61582004 human_phenotype owl:Class HP:0012384 biolink:NamedThing Rhinitis Inflammation of the nasal mucosa with nasal congestion. tmpxe7fu0cj_hp_relaxed.owl Nasal inflammation SNOMEDCT_US:70076002|MSH:D012220|UMLS:C2718128|UMLS:C0035455 hecht 2013-10-19T05:37:08Z human_phenotype owl:Class UBERON:0001378 biolink:NamedThing rectus femoris The Rectus femoris muscle is one of the four quadriceps muscles of the human body. (The others are the vastus medialis, the vastus intermedius, and the vastus lateralis. All four combine to form the quadriceps tendon, which inserts into the patella and continues as the patellar ligament. ) The Rectus femoris is situated in the middle of the front of the thigh; it is fusiform in shape, and its superficial fibers are arranged in a bipenniform manner, the deep fibers running straight down to the deep aponeurosis. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl musculus rectos femoris BTO:0001564|NCIT:C53175|MA:0002365|FMA:22430|EMAPA:36266|UMLS:C0584894 Rectus:femoris.png uberon owl:Class CHEBI:38264 biolink:NamedThing 2-amino-3-methylpentanoic acid A branched chain amino acid that consists of 3-methylpentanoic acid bearing an amino substituent at position 2. tmpxe7fu0cj_hp_relaxed.owl 2-amino-3-methylpentanoic acid 0 C6H13NO2 InChI=1S/C6H13NO2/c1-3-4(2)5(7)6(8)9/h4-5H,3,7H2,1-2H3,(H,8,9) AGPKZVBTJJNPAG-UHFFFAOYSA-N 131.17296 131.09463 CCC(C)C(N)C(O)=O KEGG:C16434|PMID:10944265|Reaxys:1721790|CAS:443-79-8 chebi_ontology owl:Class PR:P55097 biolink:NamedThing cathepsin K (mouse) A cathepsin K that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl Ctsk|mCTSK UniProtKB:P55097 Category=organism-gene. protein owl:Class HP:0002020 biolink:NamedThing Gastroesophageal reflux A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. tmpxe7fu0cj_hp_relaxed.owl Acid reflux disease|Gastro-oesophageal reflux|Gastroesophageal reflux disease|Heartburn|GERD|Acid reflux|Gastro-esophageal reflux UMLS:C0017168|SNOMEDCT_US:235595009|SNOMEDCT_US:698065002|UMLS:C0018834|SNOMEDCT_US:16331000|MSH:D006356|MSH:D005764 HP:0004793 owl:Class HP:0002584 biolink:NamedThing Intestinal bleeding Bleeding from the intestines. tmpxe7fu0cj_hp_relaxed.owl Intestinal bleeding|Intestinal hemorrhage|Intestinal haemorrhage SNOMEDCT_US:712510007|UMLS:C0267373 human_phenotype owl:Class HP:0410267 biolink:NamedThing Intestinal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel. tmpxe7fu0cj_hp_relaxed.owl Bowel hemangioma|Intestinal hemangioma 2018-10-30 01:56:39+00:00 owl:Class HP:0033196 biolink:NamedThing Portal inflammation Infiltration of portal fields by inflammatory cells. tmpxe7fu0cj_hp_relaxed.owl Hepatic portal inflammation 2020-10-11 12:07:59+00:00 In nonalcoholic fatty liver disease, portal inflammation is comprised of cells referred to as chronic, i.e. lymphocytes, plasma cells, occasional eosinophils, monocytes. peter owl:Class GO:0033037 biolink:NamedThing polysaccharide localization Any process in which a polysaccharide is transported to, or maintained in, a specific location. tmpxe7fu0cj_hp_relaxed.owl polysaccharide localisation biological_process owl:Class UBERON:0001472 biolink:NamedThing vaginal venous plexus The vaginal plexuses are placed at the sides of the vagina; they communicate with the uterine, vesical, and hemorrhoidal plexuses, and are drained by the vaginal veins, one on either side, into the hypogastric veins. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl venous vaginal plexus|plexus venosus vaginalis FMA:29713|MA:0002257|EMAPA:37801 http://upload.wikimedia.org/wikipedia/commons/d/d4/Gray589.png uberon owl:Class HP:0030341 biolink:NamedThing Decreased circulating follicle stimulating hormone concentration A reduction of the circulating level of follicle-stimulating hormone (FSH). tmpxe7fu0cj_hp_relaxed.owl Decreased circulating follicle stimulating hormone level UMLS:C4072889 owl:Class HP:0011650 biolink:NamedThing Bilateral ductus arteriosus The presence of both a left and a right ductus arteriosus. tmpxe7fu0cj_hp_relaxed.owl Bilateral ductus botalli SNOMEDCT_US:461093009|UMLS:C0431501 peter 2012-04-09T10:00:51Z human_phenotype owl:Class HP:0041218 biolink:NamedThing Fractured distal phalanx A partial or complete breakage of the distal phalanx. tmpxe7fu0cj_hp_relaxed.owl bone distal phalanx owl:Class GO:0010633 biolink:NamedThing negative regulation of epithelial cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell migration. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0045214 biolink:NamedThing sarcomere organization The myofibril assembly process that results in the organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. tmpxe7fu0cj_hp_relaxed.owl sarcomere alignment|sarcomere organisation GO:0006938 biological_process owl:Class MAXO:0000428 biolink:NamedThing MRI of the chest A medical examination performed using of magnetic resonance imaging to image the chest. tmpxe7fu0cj_hp_relaxed.owl chest magnetic resonance imaging|Nuclear magnetic resonance imaging of the chest|chest MRI 2019-05-19T20:39:14Z http://orcid.org/0000-0001-7941-2961 owl:Class GO:0046005 biolink:NamedThing positive regulation of circadian sleep/wake cycle, REM sleep Any process that activates or increases the duration or quality of rapid eye movement (REM) sleep. tmpxe7fu0cj_hp_relaxed.owl upregulation of circadian sleep/wake cycle, REM sleep|positive regulation of REM sleep|up-regulation of circadian sleep/wake cycle, REM sleep|stimulation of circadian sleep/wake cycle, REM sleep|activation of circadian sleep/wake cycle, REM sleep|up regulation of circadian sleep/wake cycle, REM sleep biological_process owl:Class HP:0025355 biolink:NamedThing Retinal arterial macroaneurysms Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative. tmpxe7fu0cj_hp_relaxed.owl 2017-02-13 00:33:08+00:00 Retinal arterial macroaneurysms can be visualized on fundoscopy and by fluorescein angiography or spectral-domain optical coherence tomography. HPO:probinson owl:Class CL:2000066 biolink:NamedThing cardiac ventricle fibroblast Any fibroblast that is part of a cardiac ventricle. tmpxe7fu0cj_hp_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=6310 TermGenie 2014-10-07T18:35:38Z cell owl:Class HP:0009265 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 4th finger Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of the innermost bone of the ring finger UMLS:C4024484 doelkens 2009-01-07T12:12:59Z human_phenotype owl:Class HP:0032096 biolink:NamedThing Abnormal manganese concentration A deviation from the normal range of manganese in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2018-11-04 11:11:31+00:00 peter owl:Class HP:0001864 biolink:NamedThing Clinodactyly of the 5th toe Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe). tmpxe7fu0cj_hp_relaxed.owl Curvature of the pinky toe|Curvature of the little toe|Curvature of the pinkie toe UMLS:C4025741|UMLS:C4280586 human_phenotype owl:Class HP:0004005 biolink:NamedThing Large radial epiphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025452 human_phenotype owl:Class HP:0000855 biolink:NamedThing Insulin resistance Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. tmpxe7fu0cj_hp_relaxed.owl Body fails to respond to insulin SNOMEDCT_US:48606007|UMLS:C0021655|MSH:D007333 human_phenotype owl:Class HP:0025274 biolink:NamedThing Ovarian dermoid cyst An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others. tmpxe7fu0cj_hp_relaxed.owl Mature cystic ovarian teratoma 2016-12-18 13:56:16+00:00 HPO:probinson owl:Class HP:0012226 biolink:NamedThing Ovarian teratoma The presence of a teratoma in the ovary. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3403|UMLS:C0280131|SNOMEDCT_US:716077006 peter 2013-03-30T07:34:29Z human_phenotype owl:Class CHEBI:27780 biolink:NamedThing detergent A surfactant (or a mixture containing one or more surfactants) having cleaning properties in dilute solutions. tmpxe7fu0cj_hp_relaxed.owl detergent|Detergents KEGG:C01689 CHEBI:4456|CHEBI:23648 chebi_ontology owl:Class UBERON:0006616 biolink:NamedThing right external ear An external ear that is in the right side of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl right auricular region EMAPA:37361|FMA:53643 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0015165 biolink:NamedThing multi-unit eye An eye consisting of multiple light-sensing organs. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0013705 biolink:NamedThing fascia of Scarpa The deep layer (fascia of Scarpa) is a layer of the anterior abdominal wall. tmpxe7fu0cj_hp_relaxed.owl Scarpa's fascia|stratum membranosum telae subcutaneae abdominis|Colles' fascia|membranous layer of superficial fascia of abdomen|fascia of Scarpa|membranous layer of subcutaneous tissue of abdomen|deep layer of superficial fascia of abdomen|Colles fascia FMA:19923 uberon owl:Class UBERON:0035548 biolink:NamedThing colic artery tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0030115 biolink:NamedThing Reduced muscle fiber dysferlin Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Reduced muscle fibre dysferlin UMLS:C4022630 owl:Class PATO:0000330 biolink:NamedThing irregular spatial pattern A spatial pattern inhering in a bearer by virtue of the bearer's magnitude of or the relationships between its repeated parts lack consistency. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0012388 biolink:NamedThing Acute bronchitis Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0149514|SNOMEDCT_US:10509002|SNOMEDCT_US:35301006 peter 2013-11-07T07:27:42Z human_phenotype owl:Class HP:0012387 biolink:NamedThing Bronchitis Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:32398004|UMLS:C0006277|MSH:D001991 peter 2013-11-07T07:24:16Z human_phenotype owl:Class HP:0031074 biolink:NamedThing Abnormal response to ACTH stimulation test An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline. tmpxe7fu0cj_hp_relaxed.owl Abnormal response to adrenocorticotropic-hormone stimulation test|Abnormal response to corticotropin stimulation test 2017-05-28 23:15:41+00:00 Corticotropin is another term for ACTH. peter owl:Class GO:1902738 biolink:NamedThing regulation of chondrocyte differentiation involved in endochondral bone morphogenesis Any process that modulates the rate, frequency, or extent of the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte that will contribute to the development of a bone. A chondrocyte is a polymorphic cell that forms cartilage. tmpxe7fu0cj_hp_relaxed.owl mr 2014-02-26T15:36:15Z biological_process owl:Class HP:0008400 biolink:NamedThing Onycholysis of distal fingernails Detachment of the distal fingernails from the nail bed. tmpxe7fu0cj_hp_relaxed.owl Detachment of outermost fingernails UMLS:C4024680 human_phenotype owl:Class UBERON:0009751 biolink:NamedThing cardiac mesenchyme The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures. tmpxe7fu0cj_hp_relaxed.owl heart mesenchyme EMAPA:36438|EHDAA2:0004162 decide whether to merge with cardiac mesoderm. In EHDAA2 this lasts CS12->unbounded, includes mesenchyme of individual components as parts uberon owl:Class HP:0030030 biolink:NamedThing Absent ray The absence of all phalanges of a digit and the associated metacarpal /metatarsal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022668 This descriptor requires, in addition to the absence of the phalanges, absence of the metacarpal or metatarsal. Compare this to Absent thumb, Absent hallux, Absent toes, and Absent fingers. In most cases, the absent metacarpal or metatarsal can be assessed by palpation, but in some cases radiographs may be useful. This definition excludes Split hand and Split foot. If a patient meets the definition of either of those terms, they should be used and Absent ray should not. owl:Class HP:0033947 biolink:NamedThing Renal arteriole intima/media crystal accumulation Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney. tmpxe7fu0cj_hp_relaxed.owl Accumulated crystals within renal arteriolar intima/media 2021-06-24 01:59:04+00:00 peter owl:Class HP:0002635 biolink:NamedThing Type IV atherosclerotic lesion In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion. tmpxe7fu0cj_hp_relaxed.owl Atheromatosis UMLS:C0004153|SNOMEDCT_US:38716007|MSH:D050197 human_phenotype owl:Class HP:0001248 biolink:NamedThing Short tubular bones of the hand Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals. tmpxe7fu0cj_hp_relaxed.owl Shortened short tubular bones of the hand UMLS:C4025795 human_phenotype owl:Class HP:0009551 biolink:NamedThing Patchy sclerosis of 2nd finger phalanx Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in index finger bone|Patchy sclerosis of the phalanges of the 2nd finger UMLS:C4021442 doelkens 2009-01-21T10:20:26Z human_phenotype owl:Class HP:0006943 biolink:NamedThing Diffuse spongiform leukoencephalopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C1858857 human_phenotype owl:Class HP:0100243 biolink:NamedThing Leiomyosarcoma A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:51549004|MSH:D007890|NCIT:C3158|SNOMEDCT_US:443719001|UMLS:C0023269 doelkens 2010-07-08T10:49:35Z human_phenotype owl:Class HP:0008631 biolink:NamedThing Ureteral dysgenesis A developmental anomaly of the ureter. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024653 If possible, a more specific term describing the precise type of ureteral dysgenesis should be chosen. owl:Class GO:2000243 biolink:NamedThing positive regulation of reproductive process Any process that activates or increases the frequency, rate or extent of reproductive process. tmpxe7fu0cj_hp_relaxed.owl mah 2010-11-10T02:44:08Z biological_process owl:Class HP:0030418 biolink:NamedThing Vulvar melanoma A type of vulvar cancer that originates from melanocytes of the vulva. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0241989|SNOMEDCT_US:254896002 The first symptoms typically noticed by the patients are bleeding, pruritus, or a mass in the groin. Vulvar melanomas are mostly located at the labia minora. owl:Class HP:0030195 biolink:NamedThing Fatigable weakness of swallowing muscles A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022588 owl:Class GO:2000379 biolink:NamedThing positive regulation of reactive oxygen species metabolic process Any process that activates or increases the frequency, rate or extent of reactive oxygen species metabolic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of reactive oxygen species metabolism|positive regulation of ROS metabolic process mah 2011-02-11T02:06:57Z biological_process owl:Class GO:0014832 biolink:NamedThing urinary bladder smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary bladder. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary bladder is a musculomembranous sac along the urinary tract. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0014848 biolink:NamedThing urinary tract smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary tract. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary tract consists of organs of the body that produce and discharge urine. These include the kidneys, ureters, bladder, and urethra. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010293 biolink:NamedThing Aplasia/Hypoplasia of the uvula Underdevelopment or absence of the uvula. tmpxe7fu0cj_hp_relaxed.owl Aplasia/hypoplasia of palatine uvula UMLS:C4023917 peter 2009-07-12T11:36:52Z owl:Class UBERON:0004118 biolink:NamedThing vasculature of iris A vasculature that is part of a iris [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl iris blood vessels|vascular network of iris|iris vasculature|iris vascular network ZFA:0005568 uberon owl:Class GO:1903848 biolink:NamedThing negative regulation of aorta morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of aorta morphogenesis. tmpxe7fu0cj_hp_relaxed.owl down regulation of aorta morphogenesis|inhibition of aorta morphogenesis|down-regulation of aorta morphogenesis|downregulation of aorta morphogenesis rph 2015-01-23T14:01:01Z biological_process owl:Class HP:0033036 biolink:NamedThing Decreased nasal nitric oxide Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure. tmpxe7fu0cj_hp_relaxed.owl Low nasal nitric oxide level Nasal nitric oxide (nNO) is measurable in nasal air and found to be low in cystic fibrosis and very low in primary ciliary dyskinesia. peter owl:Class PATO:0000963 biolink:NamedThing opaque A optical quality inhering in a bearer by virtue of the bearer's not being clear; not transmitting or reflecting light or radiant energy. tmpxe7fu0cj_hp_relaxed.owl clouding|cloudy|non-transparent quality owl:Class PATO:0000957 biolink:NamedThing opacity An optical quality which obtains by virtue of the ability of the bearer to absorb visible light. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0006585 biolink:NamedThing Congenital pseudoarthrosis of the clavicle The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle. tmpxe7fu0cj_hp_relaxed.owl Pseudoarthrosis of clavicle|Clavicle pseudoarthrosis|Bipartite clavicle SNOMEDCT_US:249690001|SNOMEDCT_US:249685004|UMLS:C0426806|UMLS:C0426811 In congenital pseudarthrosis of the clavicle, the two primary ossification centers fail to unite, probably due to a disruption of diaphyseal membranous ossification. See PMID:22295044, Figure 1, for the radiographic appearance of this feature. HP:0006661|HP:0006612 human_phenotype owl:Class HP:0033391 biolink:NamedThing Bronchial artery hypertrophy Increase in the volume of bronchial artery wall due to the enlargement of its component cells. tmpxe7fu0cj_hp_relaxed.owl 2021-01-06 12:29:15+00:00 The bronchial circulation and other collateral vessels (eg, the intercostal, internal mammary, and inferior phrenic arteries) respond to chronic pulmonary ischemia and decreased pulmonary blood flow through hypertrophy or enlargement in an effort to maintain blood flow to the affected lung and participate in gas exchange through systemic-pulmonary arterial anastomoses that develop beyond the pulmonary artery obstruction. peter owl:Class HP:0033388 biolink:NamedThing Abnormal bronchial artery morphology Any structural abnormality of a bronchial artery. tmpxe7fu0cj_hp_relaxed.owl 2021-01-06 12:20:57+00:00 The bronchial arteries originate from the systemic circulation and supply the lungs with oxygenated blood. peter owl:Class GO:1903056 biolink:NamedThing regulation of melanosome organization Any process that modulates the frequency, rate or extent of melanosome organization. tmpxe7fu0cj_hp_relaxed.owl regulation of melanosome organisation|regulation of melanosome organization and biogenesis Lack of the transcription factor Zeb2 Q9R0G7 leads to spherical melanosomes with irregular borders, in contrast to the rod-shaped melanosomes of ZEB2MCWT hair follicles rl 2014-05-27T13:27:49Z biological_process owl:Class HP:0100554 biolink:NamedThing Hemihypertrophy of upper limb Overgrowth of only one arm. tmpxe7fu0cj_hp_relaxed.owl Overgrowth of one arm UMLS:C0431810|SNOMEDCT_US:253920006 doelkens 2010-12-21T03:58:55Z human_phenotype owl:Class UBERON:0005800 biolink:NamedThing section of aorta Any portion of the aorta including the ascending and descending aorta, and aortic arch or a portion of the aortic orifice of the left ventricle. tmpxe7fu0cj_hp_relaxed.owl portion of aorta|segment of aorta|aortic section|aortic segment NCIT:C34027|FMA:13087|UMLS:C0506947|SCTID:119203005 uberon owl:Class HP:0003655 biolink:NamedThing Reduced level of N-acetylglucosaminyltransferase II An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity. tmpxe7fu0cj_hp_relaxed.owl Deficient N-acetylglucosaminyltransferase II UMLS:C4021725 human_phenotype owl:Class GO:0051782 biolink:NamedThing negative regulation of cell division Any process that stops, prevents, or reduces the frequency, rate or extent of cell division. tmpxe7fu0cj_hp_relaxed.owl down regulation of cell division|downregulation of cell division|inhibition of cell division|down-regulation of cell division biological_process owl:Class HP:0011094 biolink:NamedThing Increased overbite Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm. tmpxe7fu0cj_hp_relaxed.owl Deep bite|Deep overbite|Overbite|Scissors bite|Increased overlap of upper and lower incisors|Supraocclusion SNOMEDCT_US:251293001|SNOMEDCT_US:60476005|UMLS:C0266067|UMLS:C1305740|MSH:D057887|UMLS:C0266063|SNOMEDCT_US:63783001|SNOMEDCT_US:10816007 peter 2011-03-11T05:13:34Z owl:Class HP:0009953 biolink:NamedThing Partial duplication of the middle phalanx of the 2nd finger Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the middle bone of the index finger UMLS:C4024149 doelkens 2009-05-15T02:05:27Z human_phenotype owl:Class GO:0140056 biolink:NamedThing organelle localization by membrane tethering The process by which an organelle membrane interacts with another membrane via molecular tethers that physically bridge the two membranes and attach them to each other. tmpxe7fu0cj_hp_relaxed.owl pg 2017-06-27T09:58:51Z biological_process owl:Class HP:0025511 biolink:NamedThing Nevus sebaceus A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood. tmpxe7fu0cj_hp_relaxed.owl 2017-05-15 00:51:20+00:00 HPO:probinson owl:Class UBERON:0006349 biolink:NamedThing epigastric artery An external iliac artery branch that supplies blood to the anterior abdominal wall. tmpxe7fu0cj_hp_relaxed.owl NCIT:C52860|MESH:D019074|MA:0001948|EMAPA:18750|UMLS:C0282640 uberon owl:Class UBERON:0003060 biolink:NamedThing pronephric duct In mammals, the pronephric duct is the predecessor of the Wolffian duct[WP]. tmpxe7fu0cj_hp_relaxed.owl pronephric ducts|ductus pronephricus|archinephric duct ZFA:0000150|UMLS:C1283945|XAO:0000063|AAO:0011088|VHOG:0000082|NCIT:C34279|TAO:0000150 The pronephric duct collects the filtrate from the pronephric tubules and opens to the exterior of the pronephric kidney[GOC:mtg_kidney_jan10, PMID:15647339, XAO:0000063, ZFA:0000150] uberon owl:Class Duct of the embryonic kidney, present bilaterally ventral to the somites and leading to the anal region where it empties separately from, and just posterior to the anus. Kimmel et al, 1995.[TAO]|The first-formed kidney duct, which drains the kidney of most anamniotes and becomes the ductus deferens of male amniotes. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-3, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] (...) in all craniates, the archinephric duct develops in embryogeny.[well established][VHOG] HP:0004025 biolink:NamedThing Spurred radial metaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025435 human_phenotype owl:Class HP:0001807 biolink:NamedThing Ridged nail Longitudinal, linear prominences in the nail plate. tmpxe7fu0cj_hp_relaxed.owl Ridged nails|Longitudinal ridging|Nail ridging|Grooved nails SNOMEDCT_US:271768001|UMLS:C0423820 There may be only one, or several ridges. The affected digits should be specified. HP:0001811|HP:0001801 human_phenotype owl:Class GO:0045579 biolink:NamedThing positive regulation of B cell differentiation Any process that activates or increases the frequency, rate or extent of B cell differentiation. tmpxe7fu0cj_hp_relaxed.owl stimulation of B cell differentiation|up regulation of B cell differentiation|up-regulation of B cell differentiation|upregulation of B cell differentiation|activation of B cell differentiation|positive regulation of B-cell differentiation|positive regulation of B lymphocyte differentiation|positive regulation of B-lymphocyte differentiation|positive regulation of B cell development Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. biological_process owl:Class GO:0045621 biolink:NamedThing positive regulation of lymphocyte differentiation Any process that activates or increases the frequency, rate or extent of lymphocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl stimulation of lymphocyte differentiation|up-regulation of lymphocyte differentiation|up regulation of lymphocyte differentiation|positive regulation of lymphocyte development|activation of lymphocyte differentiation|upregulation of lymphocyte differentiation Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. biological_process owl:Class CHEBI:36237 biolink:NamedThing cholanic acid A steroid acid that consists of cholane having a carboxy group in place of the methyl group at position 24. tmpxe7fu0cj_hp_relaxed.owl cholan-24-oic acid 0 C24H40O2 InChI=1S/C24H40O2/c1-16(7-12-22(25)26)19-10-11-20-18-9-8-17-6-4-5-14-23(17,2)21(18)13-15-24(19,20)3/h16-21H,4-15H2,1-3H3,(H,25,26)/t16-,17?,18+,19-,20+,21+,23+,24-/m1/s1 RPKLZQLYODPWTM-KBMWBBLPSA-N 360.57320 360.30283 [H][C@@]1(CC[C@@]2([H])[C@]3([H])CCC4CCCC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)CCC(O)=O Patent:JP2008069152|CAS:25312-65-6|Reaxys:13246008 chebi_ontology owl:Class HP:0007066 biolink:NamedThing Proximal limb muscle stiffness Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861460 Removed logical definition that used an anonymous class. Requested new term in UBERON: proximal musculature of limb human_phenotype owl:Class UBERON:0011299 biolink:NamedThing white matter of telencephalon A partion of white matter that is part of a telencephalon. This can be further subdivided in some species, for example, into hemisphere white matter and the corpus callosum. tmpxe7fu0cj_hp_relaxed.owl predominantly white regional part of telencephalon|telencephalic white matter|telencephalic tract/commissure|telencephalic tracts TAO:0000597|FMA:83930|HBA:9219|BIRNLEX:1075|ZFA:0000597|HBA:9230 UBERON:0022550|UBERON:0013202 uberon owl:Class CNS white matter that is part of the telencephalon[ZFA:0000597]. UBERON:0001243 biolink:NamedThing serosa of intestine A serous membrane that is part of a wall of intestine [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl anatomical wall of bowel serous membrane|intestine wall serous membrane|anatomical wall of intestine serous membrane|bowel wall serous membrane|serosa of intestine anatomical wall|intestine anatomical wall serous membrane|intestine wall serosa|serosa of wall of intestine|serous membrane of wall of bowel|serosa of intestinal wall|wall of bowel serosa|serosa of anatomical wall of intestine|intestinal wall serosa|serosa of bowel anatomical wall|serous membrane of bowel anatomical wall|intestinal serosa|serosa of intestine wall|anatomical wall of intestine serosa|serous membrane of bowel wall|bowel anatomical wall serous membrane|serous membrane of anatomical wall of intestine|wall of bowel serous membrane|serosa of anatomical wall of bowel|serous membrane of anatomical wall of bowel|intestine anatomical wall serosa|intestine serosa|serous membrane of intestine anatomical wall|bowel anatomical wall serosa|intestinal wall serous membrane|serous membrane of wall of intestine|serous membrane of intestinal wall|serosa of bowel wall|wall of intestine serous membrane|visceral peritoneum of intestine|wall of intestine serosa|bowel wall serosa|anatomical wall of bowel serosa|serous membrane of intestine wall|serosa of wall of bowel EMAPA:37619|FMA:15701|MA:0001538 TODO - check serosa/peritoneum uberon owl:Class HP:0012317 biolink:NamedThing Sacroiliac arthritis Inflammation of the sacroiliac joint, generally accompanied by lower back pain. tmpxe7fu0cj_hp_relaxed.owl Sacroiliitis UMLS:C0748473|MSH:C563037 peter 2013-08-10T12:58:43Z human_phenotype owl:Class GO:0010832 biolink:NamedThing negative regulation of myotube differentiation Any process that decreases the frequency, rate or extent of myotube differentiation. Myotube differentiation is the process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0007566 biolink:NamedThing Index finger dermatoglyphic radial loop tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024845 human_phenotype owl:Class HP:0031129 biolink:NamedThing Impaired phorbol myristate acetate-induced platelet aggregation Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 12:32:36+00:00 peter owl:Class HP:0012099 biolink:NamedThing Abnormality of circulating catecholamine level An abnormal catecholamine concentration in the blood. tmpxe7fu0cj_hp_relaxed.owl Catecholamine levels abnormal UMLS:C4021102 hecht 2012-08-22T08:20:01Z human_phenotype owl:Class HP:0011774 biolink:NamedThing Thyroid follicular adenoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C0151468|SNOMEDCT_US:255033000|MSH:D013964|SNOMEDCT_US:255034006 peter 2012-04-22T06:01:31Z human_phenotype owl:Class GO:0032378 biolink:NamedThing negative regulation of intracellular lipid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of lipids within cells. tmpxe7fu0cj_hp_relaxed.owl downregulation of intracellular lipid transport|down regulation of intracellular lipid transport|down-regulation of intracellular lipid transport|inhibition of intracellular lipid transport biological_process owl:Class HP:0033106 biolink:NamedThing Elevated circulating D-dimer concentration An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated fibrin degradation fragment concentration|Elevated D-dimers 2020-08-29 11:29:26+00:00 The D-dimer antigen is a unique marker of fibrin degradation that is formed by the sequential action of 3 enzymes: thrombin, factor XIIIa, and plasmin. First, thrombin cleaves fibrinogen producing fibrin monomers, which polymerize and serve as a template for factor XIIIa and plasmin formation. Second, thrombin activates plasma factor XIII bound to fibrin polymers to produce the active transglutaminase, factor XIIIa. Factor XIIIa catalyzes the formation of covalent bonds between D-domains in the polymerized fibrin. Finally, plasmin degrades the crosslinked fibrin to release fibrin degradation products and expose the D-dimer antigen. D-dimer measurement has been most comprehensively validated in (1) the exclusion of venous thromboembolism (VTE) in certain patient populations and (2) the diagnosis and monitoring of coagulation activation in disseminated intravascular coagulation. Anormal D-dimer in the appropriate clinical context denotes that there is no major ongoing activation of intravascular coagulation, and serves as a reliable tool for the exclusion of VTE. peter owl:Class HP:0000870 biolink:NamedThing Increased circulating prolactin concentration The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. tmpxe7fu0cj_hp_relaxed.owl Prolactin excess|Hyperprolactinaemia|Hyperprolactinemia MSH:D006966|UMLS:C0020514|SNOMEDCT_US:237662005 human_phenotype owl:Class HP:0010514 biolink:NamedThing Hyperpituitarism Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:10649000|MSH:D006964|UMLS:C0020506 peter 2009-09-19T04:14:54Z human_phenotype owl:Class HP:0003180 biolink:NamedThing Flat acetabular roof Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. tmpxe7fu0cj_hp_relaxed.owl Horizontal acetabular roofs|Flattened acetabular roof|Flat acetabular roofs|Horizontal acetabular roof|Horizontal acetabulae UMLS:C1837485 HP:0008832|HP:0008834|HP:0003171 human_phenotype owl:Class CHEBI:53309 biolink:NamedThing polyanionic macromolecule A polymer carrying multiple negative charges. tmpxe7fu0cj_hp_relaxed.owl polyanion|polyanions chebi_ontology owl:Class GO:0023052 biolink:NamedThing signaling The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. tmpxe7fu0cj_hp_relaxed.owl signalling|single organism signaling|signalling process|biological signaling|signaling process Note that a signal is any variable property or parameter that serves to convey information, and may be a physical entity such as a gene product or small molecule, a photon, or a change in state such as movement or voltage change. jl 2010-02-16T09:30:50Z GO:0023046|GO:0044700 biological_process owl:Class HP:0025399 biolink:NamedThing Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree. tmpxe7fu0cj_hp_relaxed.owl 2017-04-22 13:13:21+00:00 The pattern reflects a spectrum of endobronchiolar and peribronchiolar disorders, including mucoid impaction, inflammation, fibrosis and occasionally endovascular disorders such as neoplastic processes. HPO:probinson owl:Class NCBITaxon:6960 biolink:NamedThing Hexapoda tmpxe7fu0cj_hp_relaxed.owl Uniramia|Tracheata|insects|hexapods|Atelocerata GC_ID:1 ncbi_taxonomy owl:Class HP:0031193 biolink:NamedThing Abnormal morphology of right ventricular trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae). tmpxe7fu0cj_hp_relaxed.owl 2017-06-24 14:10:16+00:00 peter owl:Class HP:0030681 biolink:NamedThing Abnormal morphology of myocardial trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073289 owl:Class HP:0012522 biolink:NamedThing Spider hemangioma A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022867 Spider hemangiomas are up to a few centimeters in diameter. peter 2013-12-14T08:31:15Z human_phenotype owl:Class GO:0070092 biolink:NamedThing regulation of glucagon secretion Any process that modulates the frequency, rate or extent of the regulated release of glucagon. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0020105 biolink:NamedThing Severe toxoplasmosis Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs). tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 19:22:59+00:00 robinp owl:Class HP:0012612 biolink:NamedThing Abnormal urinary sulfate concentration Abnormal concentration of sulfate in the urine. tmpxe7fu0cj_hp_relaxed.owl Abnormal urinary sulphate concentration UMLS:C4022821 peter 2014-01-17T11:58:23Z human_phenotype owl:Class HP:0032439 biolink:NamedThing Airborn particle hypersensitivity An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen. tmpxe7fu0cj_hp_relaxed.owl 2019-03-03 16:15:03+00:00 Particles can be defined as any small bits of material or droplets either inorganic or organic, viable or nonviable, that can become airborne. They can range from small molecules less than 0.001 micrometer to pollens and spores ranging between 2 and 50 micrometers and very large visible dust particles in the range of 1000 micrometers. Particles can also assume many shapes including long, fibrous varieties with a length greater than three times diameter, spheres, oddly shaped or irregularly shaped material, oblong, crescent-shaped varieties, or other peculiar shapes, such as certain pollen grains and mold spores. peter owl:Class HP:0100326 biolink:NamedThing Immunologic hypersensitivity Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0237653 doelkens 2010-09-16T06:00:43Z human_phenotype owl:Class HP:0031614 biolink:NamedThing Inferior retinal coloboma A notch or cleft of the lower part of the retina. tmpxe7fu0cj_hp_relaxed.owl 2017-12-16 12:58:27+00:00 peter owl:Class HP:0100875 biolink:NamedThing Hemimacroglossia Increased length and width of one half of the tounge. tmpxe7fu0cj_hp_relaxed.owl Hypertrophy of half of the tongue|Hyperplasia of half of the tongue|Large half of tongue|Hemiglossal hyperplasia|Increased size of half of the tongue|Hemiglossal hypertrophy UMLS:C4280287|UMLS:C4021947 doelkens 2011-12-01T02:15:01Z human_phenotype owl:Class HP:0032964 biolink:NamedThing Uric acid crystalluria The presence of uric acid crystals in the urine. tmpxe7fu0cj_hp_relaxed.owl Uric acid crystals are very pleiomorphic, but the rhomboidal shape is the most frequent. Distinctive morphological features are the amber colour and the constant polychromatic birefringence. These crystals can be found both in normal subjects as well as in stone formers. Moreover, they can be found, alone or with amorphous urates in patients with increased purine metabolism. peter owl:Class HP:0040084 biolink:NamedThing Abnormal circulating renin A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating renin|Abnormal plasma renin UMLS:C4021038 HPO:skoehler owl:Class HP:0004485 biolink:NamedThing Cessation of head growth Stagnation of head growth seen as flattening of the head circumference curve. tmpxe7fu0cj_hp_relaxed.owl Cranium stopped growing|Head stopped growing|Skull stopped growing UMLS:C4025319 human_phenotype owl:Class HP:0032704 biolink:NamedThing Focal aware cognitive seizure with illusion A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:1903579 biolink:NamedThing negative regulation of ATP metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of ATP metabolic process. tmpxe7fu0cj_hp_relaxed.owl inhibition of ATP metabolism|downregulation of ATP metabolic process|down regulation of ATP metabolic process|negative regulation of ATP metabolism|down-regulation of ATP metabolic process|inhibition of ATP metabolic process|down-regulation of ATP metabolism|downregulation of ATP metabolism|down regulation of ATP metabolism sl 2014-10-30T19:04:33Z biological_process owl:Class GO:1902811 biolink:NamedThing positive regulation of skeletal muscle fiber differentiation Any process that activates or increases the frequency, rate or extent of skeletal muscle fiber differentiation. tmpxe7fu0cj_hp_relaxed.owl upregulation of skeletal muscle fiber differentiation|up-regulation of skeletal muscle fiber differentiation|activation of skeletal muscle fiber differentiation|up regulation of skeletal muscle fiber differentiation mr 2014-03-26T21:18:38Z biological_process owl:Class HP:0003741 biolink:NamedThing Congenital muscular dystrophy tmpxe7fu0cj_hp_relaxed.owl Muscular dystrophy, congenital UMLS:C0699743|SNOMEDCT_US:240059009 HP:0003793 human_phenotype owl:Class HP:0030199 biolink:NamedThing Fatigable weakness of neck muscles A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022584 owl:Class HP:0030197 biolink:NamedThing Fatigable weakness of skeletal muscles A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022586 owl:Class HP:0100105 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the outermost bone of the 2nd toe UMLS:C4022316 doelkens 2010-06-24T10:04:20Z human_phenotype owl:Class HP:0007045 biolink:NamedThing Midline brain calcifications tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855487 human_phenotype owl:Class HP:0033047 biolink:NamedThing Body ache Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0200006 biolink:NamedThing Slanting of the palpebral fissure tmpxe7fu0cj_hp_relaxed.owl Slanting of the opening between the eyelids UMLS:C2748932 sebastiankohler 2010-06-09T07:57:10Z human_phenotype owl:Class HP:0007932 biolink:NamedThing Bilateral congenital mydriasis Congenital abnormal dilation of the pupil on both sides. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024770 human_phenotype owl:Class HP:0003338 biolink:NamedThing Focal necrosis of right ventricular muscle cells tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025627 human_phenotype owl:Class HP:0031540 biolink:NamedThing Linear IgG deposits along the epidermal basement membrane zone Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 01:35:53+00:00 peter owl:Class HP:0011707 biolink:NamedThing Mobitz I atrioventricular block Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals). tmpxe7fu0cj_hp_relaxed.owl Mobitz type 1 atrioventricular block|Wenckebach block SNOMEDCT_US:54016002|UMLS:C0264907 Mobitz I atrioventricular block is associated with a normal QRS duration. peter 2012-04-11T07:25:17Z human_phenotype owl:Class UBERON:0019206 biolink:NamedThing tongue papilla epithelium tmpxe7fu0cj_hp_relaxed.owl EMAPA:35869|MA:0003178 uberon owl:Class HP:0032652 biolink:NamedThing Elevated CSF chitotriosidase 1 level Increased concentration of chitotriosidase 1 in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0025456 biolink:NamedThing Abnormal CSF protein level Any deviation from the normal range of a protein concentration in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl 2017-05-05 10:32:59+00:00 HPO:probinson owl:Class GO:0033559 biolink:NamedThing unsaturated fatty acid metabolic process The chemical reactions and pathways involving an unsaturated fatty acid, any fatty acid containing one or more double bonds between carbon atoms. tmpxe7fu0cj_hp_relaxed.owl unsaturated fatty acid metabolism MetaCyc:PWY-762|MetaCyc:PWY-782 biological_process owl:Class HP:0012765 biolink:NamedThing Widened cerebellar subarachnoid space An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022734 hecht 2014-04-06T11:06:46Z human_phenotype owl:Class HP:0012704 biolink:NamedThing Widened subarachnoid space An increase in size of the anatomic space between the arachnoid membrane and pia mater. tmpxe7fu0cj_hp_relaxed.owl Enlarged subarachnoid space|Widened subarachnoid spaces UMLS:C1846151 peter 2014-03-22T07:59:21Z human_phenotype owl:Class HP:0100884 biolink:NamedThing Compensatory scoliosis A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0343292|SNOMEDCT_US:203645000 doelkens 2011-12-01T02:56:41Z human_phenotype owl:Class HP:0020130 biolink:NamedThing Increased urinary neutrophil gelatinase-associated lipocalin An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter). tmpxe7fu0cj_hp_relaxed.owl Increased urinary NGAL An increased urinary NGAL concentration may indicate tubular injury. robinp 2019-07-05 16:30:20+00:00 owl:Class NCBITaxon:4892 biolink:NamedThing Saccharomycetales tmpxe7fu0cj_hp_relaxed.owl budding yeasts|Endomycetales GC_ID:1 ncbi_taxonomy owl:Class GO:0022409 biolink:NamedThing positive regulation of cell-cell adhesion Any process that activates or increases the rate or extent of cell adhesion to another cell. tmpxe7fu0cj_hp_relaxed.owl stimulation of cell-cell adhesion|up regulation of cell-cell adhesion|upregulation of cell-cell adhesion|activation of cell-cell adhesion|up-regulation of cell-cell adhesion biological_process owl:Class GO:0022407 biolink:NamedThing regulation of cell-cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0090357 biolink:NamedThing regulation of tryptophan metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. tmpxe7fu0cj_hp_relaxed.owl regulation of tryptophan metabolism tb 2010-06-29T02:38:48Z biological_process owl:Class HP:0031190 biolink:NamedThing Superficial dermal perivascular inflammatory infiltrate Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis. tmpxe7fu0cj_hp_relaxed.owl Superficial perivascular inflammatory infiltrate 2017-06-24 14:01:24+00:00 peter owl:Class HP:0031421 biolink:NamedThing Small superior frontal cortex Reduced size of the superior frontal portion of the cerebral cortex. tmpxe7fu0cj_hp_relaxed.owl 2017-09-16 11:11:18+00:00 peter owl:Class HP:0002472 biolink:NamedThing Small cerebral cortex Reduced size of the cerebral cortex. tmpxe7fu0cj_hp_relaxed.owl Decreased volume of cerebral cortex UMLS:C1837503 HP:0007151|HP:0006791 owl:Class HP:0008225 biolink:NamedThing Thyroid follicular hyperplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969546 human_phenotype owl:Class HP:0008249 biolink:NamedThing Thyroid hyperplasia Hyperplasia of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Large thyroid UMLS:C1112776 human_phenotype owl:Class GO:0007006 biolink:NamedThing mitochondrial membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrial membrane, either of the lipid bilayer surrounding a mitochondrion. tmpxe7fu0cj_hp_relaxed.owl mitochondrial membrane organisation|mitochondrial membrane organization and biogenesis biological_process owl:Class HP:0007976 biolink:NamedThing Cerulean cataract Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. tmpxe7fu0cj_hp_relaxed.owl Cataracts, congenital, cerulean SNOMEDCT_US:204138006|UMLS:C0344523|MSH:C537955 human_phenotype owl:Class CHEBI:78298 biolink:NamedThing environmental contaminant Any minor or unwanted substance introduced into the environment that can have undesired effects. tmpxe7fu0cj_hp_relaxed.owl environmental contaminants chebi_ontology owl:Class HP:0008368 biolink:NamedThing Tarsal synostosis Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). tmpxe7fu0cj_hp_relaxed.owl Tarsal bone fusion|Synostosis of tarsal bones|Fused ankle bones|Tarsal bone synostosis|Tarsal fusion|Synostosis involving tarsal bones|Tarsal fusions MSH:D000070604|SNOMEDCT_US:27173008|UMLS:C0265654 peter 2008-04-04T11:52:00Z HP:0001851|HP:0001957|HP:0100330|HP:0008092 human_phenotype owl:Class GO:0070230 biolink:NamedThing positive regulation of lymphocyte apoptotic process Any process that activates or increases the frequency, rate or extent of lymphocyte death by apoptotic process. tmpxe7fu0cj_hp_relaxed.owl stimulation of lymphocyte apoptosis|up regulation of lymphocyte apoptosis|up-regulation of lymphocyte apoptosis|positive regulation of lymphocyte apoptosis|activation of lymphocyte apoptosis|upregulation of lymphocyte apoptosis Note that a lymphocyte is a cell of the B cell, T cell, or natural killer cell lineage (CL:0000542). biological_process owl:Class HP:0011852 biolink:NamedThing Chylopericardium Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct. tmpxe7fu0cj_hp_relaxed.owl MSH:D010490|UMLS:C0242426|SNOMEDCT_US:233890005 hecht 2012-05-21T10:44:29Z owl:Class HP:0001698 biolink:NamedThing Pericardial effusion Accumulation of fluid within the pericardium. tmpxe7fu0cj_hp_relaxed.owl Fluid around heart|Pericardial effusions UMLS:C0031039|MSH:D010490|SNOMEDCT_US:373945007|Fyler:1940 owl:Class HP:0100155 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the middle bone of the 3rd toe UMLS:C4022266 doelkens 2010-06-24T10:24:13Z human_phenotype owl:Class HP:0031771 biolink:NamedThing Epicanthus tarsalis A type of epicanthus in which a primarily upper lid fold is present. tmpxe7fu0cj_hp_relaxed.owl 2018-01-25 11:24:33+00:00 Epicanthus tarsalis is a normal anatomic variant in the Asian population. peter owl:Class HP:0033831 biolink:NamedThing Cavitating pulmonary mass Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:33:00+00:00 peter owl:Class HP:0033570 biolink:NamedThing Indeterminate ventricular axis A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection. tmpxe7fu0cj_hp_relaxed.owl 2021-01-24 13:44:44+00:00 peter owl:Class HP:0410221 biolink:NamedThing Increased anti-animal protein IgE antibody level Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine. tmpxe7fu0cj_hp_relaxed.owl Increased level of anti-animal protein IgE antibody 2018-10-03 16:51:13+00:00 For animal dander annotations, there is a more specific subclass of this term. owl:Class UBERON:0006632 biolink:NamedThing musculo-phrenic artery An artery with its origin in the lateral terminal branch of the internal thoracic artery, with distribution to the diaphragm and the intercostal muscles, and with anastomoses to the branches of the pericardiacophrenic and inferior phrenic. tmpxe7fu0cj_hp_relaxed.owl musculophrenic artery EMAPA:19215|FMA:10645 uberon owl:Class HP:0033739 biolink:NamedThing Secondary vesicoureteral reflux Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction. tmpxe7fu0cj_hp_relaxed.owl 2021-04-16 14:09:07+00:00 This term can be used together with a term to describe the grade of VUR. peter owl:Class PR:000001018 biolink:NamedThing CD3 subunit with immunoglobulin domain A protein with a core domain composition consisting of an extracellular N-terminal domain that adopts an immunoglobulin fold, a transmembrane domain, and an intracellular C-terminal domain with a single copy of the Immunoreceptor tyrosine-based activation motif (Pfam:PF02189) (ITAM). It constitutes the invariant subunit of the T cell antigen receptor (TCR). TCR is a surface receptor on T cells responsible for recognizing MHC-restricted antigens and initiating the cellular immune response. tmpxe7fu0cj_hp_relaxed.owl CD3 subunit with Ig-like domain PIRSF:PIRSF001993 Category=family. protein owl:Class HP:0033514 biolink:NamedThing Amphetamine addiction Addiction to amphetamine or dextroamphetamine. tmpxe7fu0cj_hp_relaxed.owl Dextroamphetamine addiction|Dextroamphetamine dependence|Amphetamine dependence 2021-01-13 12:23:45+00:00 peter owl:Class GO:0106214 biolink:NamedThing regulation of vesicle fusion with Golgi apparatus Any process that modulates the frequency, rate or extent of vesicle fusion with Golgi apparatus. tmpxe7fu0cj_hp_relaxed.owl hjd 2019-06-27T15:12:22Z biological_process owl:Class HP:0000503 biolink:NamedThing Tortuosity of conjunctival vessels The presence of an increased number of twists and turns of the conjunctival blood vessels. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855391 human_phenotype owl:Class UBERON:0006268 biolink:NamedThing notochordal process A midline cellular cord formed from the migration of mesenchymal cells from the primitive knot. tmpxe7fu0cj_hp_relaxed.owl chordamesoderm|presumptive notochord UMLS:C1518430|EMAPA:16102|FMA:293135|EHDAA2:0001279|EHDAA:224|NCIT:C34232|VHOG:0001213 The notochordal process grows cranially until it reaches the prechordal plate, the future site of the mouth. In this area the ectoderm is attached directly to the endoderm without intervening mesoderm. This area is known as the oropharyngeal membrane, and it will break down to become the mouth. At the other end of the primitive streak the ectoderm is also fused directly to the endoderm; this is known as the cloacal membrane (proctodeum), or primordial anus. uberon owl:Class HP:0030650 biolink:NamedThing Focal tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:87017008|UMLS:C0205234 owl:Class HP:0003810 biolink:NamedThing Late-onset distal muscle weakness tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025565 HP:0003728 human_phenotype owl:Class HP:0032545 biolink:NamedThing Abdominal rigidity Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area. tmpxe7fu0cj_hp_relaxed.owl Rigid abdomen 2019-06-12 10:23:20+00:00 peter owl:Class CL:0000306 biolink:NamedThing crystallin accumulating cell tmpxe7fu0cj_hp_relaxed.owl lens cell FBbt:00004193 cell owl:Class HP:0005790 biolink:NamedThing Short mandibular condyles tmpxe7fu0cj_hp_relaxed.owl Decreased length of condylar process of mandible|Bilateral hypoplasia of mandibular condylar head|Short condylar process of mandible|Short condylar neck of mandible|Short condylar head of mandible|Decreased height of condylar process of mandible|Bilateral hypoplasia of condylar process of mandible|Bilateral hypoplasia of mandibular condylar neck UMLS:C4280475|UMLS:C4280474|UMLS:C4025134 human_phenotype owl:Class UBERON:0012139 biolink:NamedThing segment of autopod tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:1902623 biolink:NamedThing negative regulation of neutrophil migration Any process that stops, prevents or reduces the frequency, rate or extent of neutrophil migration. tmpxe7fu0cj_hp_relaxed.owl down-regulation of neutrophil migration|inhibition of neutrophil migration|down regulation of neutrophil migration|downregulation of neutrophil migration sl 2014-01-15T18:58:49Z biological_process owl:Class UBERON:0012355 biolink:NamedThing manual acropodium region The segment of the manus that is distal to the metacarpal region and consists of the manual digits (fingers). tmpxe7fu0cj_hp_relaxed.owl all fingers|manual acropodium region|acropodial hindlimb segment|set of fingers|anterior acropodium|anterior acropodium region|manual acropodium segment of limb|digits of hand|acropodial region of manus|fingers including thumb|fingers set|acropodial segment of manus|digiti manus|set of digits of hand|manual acropodium|anterior acropodium segment of limb FMA:75592 class refers to an entire limb segment, not just the bones uberon owl:Class HP:0002963 biolink:NamedThing Abnormal delayed hypersensitivity skin test Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1833172 This is an immune function test measuring the presence of activated T cells that recognize a certain substance. human_phenotype owl:Class PR:000025797 biolink:NamedThing integrin alpha lacking A domain An integrin alpha that lacks an A domain. This type of integrin is often cleaved into heavy and light chains. tmpxe7fu0cj_hp_relaxed.owl PIRSF:PIRSF005666 Category=family. protein owl:Class HP:0000559 biolink:NamedThing Corneal scarring tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:95726001|UMLS:C0349702|MSH:D065306 human_phenotype owl:Class HP:0033186 biolink:NamedThing Misalignment of the pulmonary veins The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins. tmpxe7fu0cj_hp_relaxed.owl 2020-10-04 11:50:58+00:00 peter owl:Class HP:0010367 biolink:NamedThing Duplication of phalanx of the 3rd toe Partial or complete duplication of phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the phalanges of the 3rd toe|Duplication of 3rd toe bone|Duplication of phalanx of the third toe UMLS:C4021282 doelkens 2009-07-16T11:51:17Z human_phenotype owl:Class HP:0410366 biolink:NamedThing Increased globoside Gb4 level An abnormal increase in the concentration of globoside Gb4. tmpxe7fu0cj_hp_relaxed.owl Increased globoside Gb4 concentration owl:Class CHEBI:136859 biolink:NamedThing pro-agent A compound that, on administration, undergoes conversion by biochemical (enzymatic), chemical (possibly following an enzymatic step), or physical (e.g. photochemical) activation processes before becoming the active agent for which it is a pro-agent. tmpxe7fu0cj_hp_relaxed.owl proagent|proagents|pro-agents PMID:26449612 chebi_ontology owl:Class CHEBI:23079 biolink:NamedThing cerebroside tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0003824 biolink:NamedThing nerve of thoracic segment A nerve that is part of a thorax [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl thorax nerve|upper body nerve|thoracic segment nerve|nerve of thorax MESH:D013900|SCTID:359876006|MA:0000562|EMAPA:37265 uberon owl:Class HP:0032601 biolink:NamedThing Multinucleation of renal tubular epithelial cells Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class CHEBI:36360 biolink:NamedThing phosphorus oxoacids and derivatives tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0030098 biolink:NamedThing Reduced muscle dystrophin expression A decreased amount of dystrophin in muscle fiber tissue. tmpxe7fu0cj_hp_relaxed.owl Reduced dystrophin staining in muscle UMLS:C4021053 owl:Class HP:0030096 biolink:NamedThing Abnormal muscle fiber dystrophin expression A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre dystrophin expression UMLS:C4022648 owl:Class GO:0060491 biolink:NamedThing regulation of cell projection assembly Any process that modulates the rate, frequency, or extent of cell projection assembly. tmpxe7fu0cj_hp_relaxed.owl regulation of cell projection formation biological_process owl:Class HP:0012015 biolink:NamedThing EEG with frontal focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023076 hecht 2012-07-20T12:02:12Z human_phenotype owl:Class HP:0006140 biolink:NamedThing Premature fusion of phalangeal epiphyses Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth. tmpxe7fu0cj_hp_relaxed.owl Premature fusion of end part of digital bone UMLS:C1855620 human_phenotype owl:Class HP:0100131 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the innermost bone of the 2nd toe UMLS:C4022290 doelkens 2010-06-24T10:06:29Z human_phenotype owl:Class HP:0009608 biolink:NamedThing Complete duplication of proximal phalanx of the thumb Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the innermost bone of the thumb UMLS:C4024273 doelkens 2009-01-29T03:32:28Z HP:0004078 human_phenotype owl:Class HP:0009943 biolink:NamedThing Complete duplication of thumb phalanx A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. tmpxe7fu0cj_hp_relaxed.owl Digitalization of thumb|Complete duplication of thumb bones|Digitalization of thumbs|Complete duplication of the phalanges of the thumb UMLS:C3554724 doelkens 2009-05-15T12:51:35Z HP:0002801|HP:0004067 human_phenotype owl:Class HP:0011816 biolink:NamedThing Parietal encephalocele An encephalocele located between bregma and lambda. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0431294|SNOMEDCT_US:253109005 peter 2012-04-29T09:07:38Z human_phenotype owl:Class UBERON:0003614 biolink:NamedThing blood vessel elastic tissue Elastic tissue layer that lines a blood vessel layer. tmpxe7fu0cj_hp_relaxed.owl vascular elastic lamina|elastic laminae|elastic lamina|elastic tissue of blood vessel|vascular elastic laminae|textus connectivus elasticus of blood vessel|vascular elastic tissue|elastic connective tissue of blood vessel|blood vessel elastic connective tissue|blood vessel textus connectivus elasticus EMAPA:36300|MA:0002856 uberon owl:Class UBERON:0003613 biolink:NamedThing cardiovascular system elastic tissue An elastic tissue that is part of a circulatory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl elastic tissue of cardiovascular system|textus connectivus elasticus of circulatory system|elastic connective tissue of cardiovascular system|circulatory system elastic connective tissue|elastic connective tissue of circulatory system|cardiovascular system textus connectivus elasticus|elastic tissue of circulatory system|cardiovascular system elastic connective tissue|textus connectivus elasticus of cardiovascular system|circulatory system textus connectivus elasticus|circulatory system elastic tissue MA:0002857 uberon owl:Class HP:0033537 biolink:NamedThing Mosaic pulmonary attenuation pattern Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging. tmpxe7fu0cj_hp_relaxed.owl 2021-01-15 15:29:22+00:00 Mosaic attenuation may result from occlusive vascular disease, obstructive small airways disease, pulmonary edema or pulmonary hemorrhage. peter owl:Class GO:0046939 biolink:NamedThing nucleotide phosphorylation The process of introducing one or more phosphate groups into a nucleotide to produce a phosphorylated nucleoside. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0048715 biolink:NamedThing negative regulation of oligodendrocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of oligodendrocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl inhibition of oligodendrocyte differentiation|downregulation of oligodendrocyte differentiation|down regulation of oligodendrocyte differentiation|down-regulation of oligodendrocyte differentiation biological_process owl:Class UBERON:0001996 biolink:NamedThing elastic cartilage tissue Cartilage tissue that is flexible and contains abundant elastic fibers. tmpxe7fu0cj_hp_relaxed.owl elastic cartilage|reticular cartilage|yellow cartilage|elastic cartilage tissue|yellow elastic cartilage|yellow elastic cartilage tissue FMA:64785|VSAO:0000091|XAO:0004197|MA:0000107|UMLS:C0682559|NCIT:C32494|MA:0000485 http://upload.wikimedia.org/wikipedia/commons/c/ca/Gray904.png uberon owl:Class Cartilage tissue that is flexible and contains abundant elastic fibers.[VSAO]|Cartilage (tissue) which consists of chondrocytes and collagen, the intercellular matrix of which consists of elastic fibers[FMA:64785]. MA has a distinct class for yellow UBERON:0011589 biolink:NamedThing non-mineralized cartilage tissue Cartilage tissue that is not mineralized. tmpxe7fu0cj_hp_relaxed.owl XAO:0004044|VSAO:0000089 add developmental relationships; add disjointness axiom uberon owl:Class HP:0005494 biolink:NamedThing Premature posterior fontanelle closure tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839126 human_phenotype owl:Class HP:0005458 biolink:NamedThing Premature closure of fontanelles Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point. tmpxe7fu0cj_hp_relaxed.owl Obliterated fontanelles|Early closure of the fontanelles|Early closure of the bregma sutures|Premature closure of the bregma sutures|Premature closure of the cranial sutures|Early closure of the cranial sutures SNOMEDCT_US:1667003|UMLS:C0277827|UMLS:C0010278|MSH:D003398|SNOMEDCT_US:57219006|UMLS:C4072853 human_phenotype owl:Class CL:0000549 biolink:NamedThing basophilic erythroblast A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers. tmpxe7fu0cj_hp_relaxed.owl early normoblast|basophilic normoblast|prorubricyte|early erythroblast FMA:83505 cell owl:Class HP:0033667 biolink:NamedThing Diminished mental health A reduction in the subjective feeling of mental well being. tmpxe7fu0cj_hp_relaxed.owl Reduced mental health|Mental impairment 2021-02-28 14:50:58+00:00 The WHO defines mental health as a state of well-being in which the individual realizes his or her own abilities, can cope with the normal stresses of life, can work productively and fruitfully, and is able to make a contribution to his or her community. Thus, mental health is not a state of absence of mental illness. Mental health has been defined on the basis of three components of mental health: emotional well-being, psychological well-being and social well-being. Alternatively, mental health can be defined as a dynamic state of internal equilibrium which enables individuals to use their abilities in harmony with universal values of society. Attempts to measure mental health in as objective a fashion as possible may involve questionnaires such as the 36-item Short Form (SF-36) health survey questionnaire. Impaired mental health is characterized by a reduction in the mental component score (MCS). peter owl:Class HP:0033665 biolink:NamedThing Diminished health-related quality of life A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles. tmpxe7fu0cj_hp_relaxed.owl 2021-02-28 14:48:04+00:00 peter owl:Class CHEBI:33676 biolink:NamedThing d-block molecular entity A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element. tmpxe7fu0cj_hp_relaxed.owl d-block molecular entity|d-block compounds|d-block molecular entities chebi_ontology owl:Class HP:0004719 biolink:NamedThing Hyperechogenic kidneys An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. tmpxe7fu0cj_hp_relaxed.owl Increased echogenicity of the renal parenchyma|Echogenic kidneys UMLS:C3275899 Normal renal parenchyma is similar (isoechoic) or slightly darker (hypoechoic) compared with liver and includes the cortex and medulla. The thickness of the renal cortex is measured from the outer border of the medullary pyramids (yellow line) or from the arcuate arteries to the renal capsule. The medullary pyramids (white arrow) contain fluid in parallel tubules, which is anechoic (black) and appear as regularly spaced dark pools at the inner margin of the parenchyma (arrow). Because fat is echogenic, the central renal sinus appears bright. owl:Class GO:0043030 biolink:NamedThing regulation of macrophage activation Any process that modulates the frequency or rate of macrophage activation. tmpxe7fu0cj_hp_relaxed.owl regulation of macrophage polarization biological_process owl:Class HP:0100777 biolink:NamedThing Exostoses An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. tmpxe7fu0cj_hp_relaxed.owl Formation of new noncancerous bone on top of existing bone UMLS:C1442903|SNOMEDCT_US:416189003|MSH:D005096|SNOMEDCT_US:80400009 doelkens 2011-06-07T05:34:49Z human_phenotype owl:Class UBERON:0015043 biolink:NamedThing manual digit 1 metacarpus endochondral element A manual digit 1 metacarpus bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl manual digit 1 metacarpus element|manual digit 1 metacarpus skeletal element|manual digit I metacarpus endochondral element uberon owl:Class HP:0006583 biolink:NamedThing Fatal liver failure in infancy tmpxe7fu0cj_hp_relaxed.owl Fatal liver failure in infancy UMLS:C4025017 human_phenotype owl:Class UBERON:0018691 biolink:NamedThing ventral side of post-anal tail tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0011002 biolink:NamedThing Osteopetrosis Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. tmpxe7fu0cj_hp_relaxed.owl Marble bone disease|Albers-Schoenberg disease|Harder, denser, fracture-prone bones|Albers-Schönberg disease|Albers-Schonberg disease MSH:D010022|SNOMEDCT_US:367489004|SNOMEDCT_US:1926006|UMLS:C0029454 sdoelken 2011-02-13T11:58:36Z human_phenotype owl:Class HP:0002533 biolink:NamedThing Abnormal posturing Involuntary flexion or extension of the arms and legs. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:43029002|UMLS:C0231471 human_phenotype owl:Class HP:0003142 biolink:NamedThing Excessive purine production tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025645 human_phenotype owl:Class HP:0001218 biolink:NamedThing Autoamputation Spontaneous detachment (amputation) of an appendage from the body. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1833222 human_phenotype owl:Class HP:0010915 biolink:NamedThing Abnormal circulating pyruvate family amino acid concentration An abnormality of a pyruvate family amino acid metabolic process. tmpxe7fu0cj_hp_relaxed.owl Abnormality of pyruvate family amino acid metabolism UMLS:C4023655 peter 2010-12-08T08:55:53Z human_phenotype owl:Class HP:0030391 biolink:NamedThing Spoken word recognition deficit Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072928 owl:Class UBERON:0013164 biolink:NamedThing molariform tooth A molar or premolar. tmpxe7fu0cj_hp_relaxed.owl postcanine tooth|cheek tooth|molariform uberon owl:Class GO:1902338 biolink:NamedThing negative regulation of apoptotic process involved in morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in morphogenesis. tmpxe7fu0cj_hp_relaxed.owl downregulation of apoptotic process involved in morphogenesis|negative regulation of apoptosis involved in development|down regulation of morphogenetic apoptosis|down regulation of apoptosis involved in development|down-regulation of morphogenetic apoptosis|downregulation of apoptosis involved in development|down-regulation of apoptosis involved in development|inhibition of apoptosis involved in development|negative regulation of morphogenetic apoptosis|downregulation of morphogenetic apoptosis|down-regulation of apoptosis involved in morphogenesis|inhibition of morphogenetic apoptosis|inhibition of apoptosis involved in morphogenesis|down regulation of apoptosis involved in morphogenesis|downregulation of apoptosis involved in morphogenesis|down regulation of apoptotic process involved in morphogenesis|inhibition of apoptotic process involved in morphogenesis|negative regulation of apoptosis involved in morphogenesis|down-regulation of apoptotic process involved in morphogenesis sart 2013-07-29T15:03:25Z biological_process owl:Class HP:0032170 biolink:NamedThing Severe varicella zoster infection An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. tmpxe7fu0cj_hp_relaxed.owl 2018-12-16 15:12:18+00:00 Varicella-zoster virus (VZV) is one of eight herpes viruses known to cause human infection and is distributed worldwide. Varicella zoster infections are considered to be mild and ubiquitous infections predominantly affecting the paediatric population. However, in adults and in specific groups of patients, such as those who are immunosuppressed, varicella infections can be fulminant and life threatening. peter owl:Class HP:0033451 biolink:NamedThing Increased circulating prealbumin concentration An elevation above the normal concentration of prealbumin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 20:45:47+00:00 peter owl:Class HP:0033450 biolink:NamedThing Abnormal circulating prealbumin concentration Any deviation from normal concentration of albumin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 20:43:54+00:00 Prealbumin, a hepatic protein, is a marker for protein malnutrition. peter owl:Class HP:0025268 biolink:NamedThing Stuttering Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds. tmpxe7fu0cj_hp_relaxed.owl Stammering|Stuttering 2016-12-18 13:27:31+00:00 HPO:probinson owl:Class GO:0060359 biolink:NamedThing response to ammonium ion Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ammonium stimulus. tmpxe7fu0cj_hp_relaxed.owl response to ammonia GO:1903717 biological_process owl:Class GO:0099569 biolink:NamedThing presynaptic cytoskeleton The portion of the cytoskeleton contained within the presynapse. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0031343 biolink:NamedThing Jejunal arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 13:55:25+00:00 peter owl:Class HP:0200104 biolink:NamedThing Absent fifth fingernail Absence of nail of little finger. tmpxe7fu0cj_hp_relaxed.owl Absent fifth fingernail|Absent nail of fifth finger UMLS:C4020917 sebastiankohler 2013-06-05T12:11:16Z HP:0011366 owl:Class HP:0031944 biolink:NamedThing Pleural thickening An increase in the thickness of the pleura, generally related to scarring of the pleural tissue. tmpxe7fu0cj_hp_relaxed.owl Pleural incrassation 2018-07-05 14:02:51+00:00 peter owl:Class HP:0012597 biolink:NamedThing Heavy proteinuria Severely increased levels of protein in the urine (1000-3000 mg per day in adults). tmpxe7fu0cj_hp_relaxed.owl Severly high blood protein levels UMLS:C4022830 peter 2014-01-16T05:56:38Z human_phenotype owl:Class HP:0033921 biolink:NamedThing Renal arteriole endoarterial hypercellularity Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney. tmpxe7fu0cj_hp_relaxed.owl Endoarterial hypercellularity within arterioles 2021-06-24 00:57:59+00:00 peter owl:Class HP:0033895 biolink:NamedThing Abnormal renal arteriole endothelium morphology Any structural anomaly of the lining (endothelium) of the arterioles of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 22:17:46+00:00 peter owl:Class UBERON:0003428 biolink:NamedThing gonadal fat pad The encapsulated adipose tissue associated with the ovaries or testes. tmpxe7fu0cj_hp_relaxed.owl fat pad of gonads|gonad fat pad|gonad-associated fat pad|gonadal fat depot|gonadal fat pad|fat pad of gonad EFO:0000811|AAO:0000157|MA:0002547|XAO:0003050 consider change relationship from part_of uberon owl:Class Anatomical structure associated with the gonads which vary in form among amphibians but are primarily composed of adipose tissue and are thought to be a source of nutrients for the gonads.[AAO] we place the amphibian structures here as their definitions state a gonadal association. UBERON:0006601 biolink:NamedThing presumptive ectoderm Presumptive structure of the blastula that will develop into ectoderm. tmpxe7fu0cj_hp_relaxed.owl presumptive epidermis TAO:0001376|ZFA:0001376|AAO:0000470|EFO:0003466|XAO:0004132 uberon owl:Class UBERON:0007728 biolink:NamedThing interphalangeal joint of pedal digit 5 An interphalangeal joint of pes that is part of a pedal digit 5. tmpxe7fu0cj_hp_relaxed.owl interphalangeal joint of little toe|interphalangeal joint of pedal digit V|interphalangeal joint of fifth toe|interphalangeal joint of fifth digit of foot FMA:35365|EMAPA:26478 uberon owl:Class HP:0000742 biolink:NamedThing Self-mutilation tmpxe7fu0cj_hp_relaxed.owl Deliberate self-harm|Self-mutilation|Self mutilation UMLS:C0036601|SNOMEDCT_US:130968006|MSH:D012652 human_phenotype owl:Class HP:0003541 biolink:NamedThing Urinary glycosaminoglycan excretion Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025598 human_phenotype owl:Class HP:0008460 biolink:NamedThing Hypoplastic spinal processes tmpxe7fu0cj_hp_relaxed.owl Underdeveloped spinal processes UMLS:C4024674 human_phenotype owl:Class HP:0032367 biolink:NamedThing Abnormal growth hormone level Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful. tmpxe7fu0cj_hp_relaxed.owl Abnormal somatotropin level 2019-02-23 18:15:25+00:00 peter owl:Class HP:0003698 biolink:NamedThing Difficulty standing tmpxe7fu0cj_hp_relaxed.owl Difficulty in standing|Standing instability UMLS:C0241237|SNOMEDCT_US:249902000 human_phenotype owl:Class HP:0100896 biolink:NamedThing Rectal polyposis The presence of multiple rectal hyperplastic/adenomatous polyps. tmpxe7fu0cj_hp_relaxed.owl Multiple rectal polyps|Rectal polyps SNOMEDCT_US:39772007|UMLS:C0034887 doelkens 2011-12-01T05:33:49Z HP:0100897 human_phenotype owl:Class NBO:0000603 biolink:NamedThing delusion "A belief that is either mistaken or not substantiated that is held with vehemence." [wikipedia:Delusion] HP:0000746 tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T03:20:48Z George Gkoutos behavior_ontology owl:Class HP:0030015 biolink:NamedThing Female anorgasmia The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal. tmpxe7fu0cj_hp_relaxed.owl Female orgasmic disorder UMLS:C0033948|UMLS:C4022677|SNOMEDCT_US:60103007 owl:Class HP:0046502 biolink:NamedThing Anorgasmia Inability of individual to reach orgasm. tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0014395 biolink:NamedThing proximal mesopodial bone A proximal mesopodial endochondral element that is composed primarily of a bone tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0031416 biolink:NamedThing Abnormal nasal mucus secretion Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose. tmpxe7fu0cj_hp_relaxed.owl 2017-09-12 02:03:01+00:00 peter owl:Class HP:0410355 biolink:NamedThing Decreased sialylated N-glycan level An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins. tmpxe7fu0cj_hp_relaxed.owl Decreased concentration of sialylated N-glycans on glycoproteins owl:Class HP:0031503 biolink:NamedThing Night gasping Waking up at night gasping for breath. tmpxe7fu0cj_hp_relaxed.owl 2017-09-18 01:14:49+00:00 peter owl:Class HP:0004333 biolink:NamedThing Bone-marrow foam cells The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance. tmpxe7fu0cj_hp_relaxed.owl Large vacuolated foam cells on bone marrow biopsy|Large vacuolated foam cells ('NP cells') on bone marrow biopsy|Bone marrow foam cells UMLS:C1856560 peter 2008-02-28T06:48:00Z HP:0001979 owl:Class GO:0060050 biolink:NamedThing positive regulation of protein glycosylation Any process that activates or increases the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpxe7fu0cj_hp_relaxed.owl positive regulation of protein amino acid glycosylation biological_process owl:Class HP:0032705 biolink:NamedThing Focal aware cognitive seizure with forced thinking A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0009736 biolink:NamedThing Tibial pseudarthrosis Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life. tmpxe7fu0cj_hp_relaxed.owl Tibial pseudoarthrosis UMLS:C4024216 peter 2009-01-31T11:22:24Z owl:Class HP:0032679 biolink:NamedThing Focal non-motor seizure A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl Focal seizure without motor onset|Partial seizure without motor onset Non-motor terms correspond to the earliest prominent sign or symptom. peter owl:Class HP:0004808 biolink:NamedThing Acute myeloid leukemia A form of leukemia characterized by overproduction of an early myeloid cell. tmpxe7fu0cj_hp_relaxed.owl Acute myelogenous leukemia|AML|Acute myelocytic leukemia|Acute myelogenous leukaemia|Acute myeloid leukaemia|Acute myeloblastic leukemia|Acute myelocytic leukaemia|Acute myeloblastic leukaemia SNOMEDCT_US:413443009|UMLS:C0023467|SNOMEDCT_US:17788007|MSH:D015470|SNOMEDCT_US:91861009 HP:0006728|HP:0005516|HP:0006724|HP:0001914|HP:0004843 human_phenotype owl:Class HP:0012858 biolink:NamedThing Decreased scrotal rugation Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022705 hecht 2014-06-08T11:14:00Z human_phenotype owl:Class HP:0012856 biolink:NamedThing Abnormal scrotal rugation Anomaly of the folded ridges (wrinkles) of skin of the scrotum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022707 hecht 2014-06-08T11:10:00Z human_phenotype owl:Class HP:0100438 biolink:NamedThing Bullet-shaped proximal phalanx of the 4th toe An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped proximal bone of the 4th toe UMLS:C4022089 human_phenotype owl:Class HP:0010373 biolink:NamedThing Bullet-shaped 4th toe phalanx An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped phalanges of the 4th toe|Bullet-shaped bones of the 4th toe UMLS:C4021281 doelkens 2009-07-16T11:51:46Z human_phenotype owl:Class HP:0410210 biolink:NamedThing Abnormal cord blood measurement An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level. tmpxe7fu0cj_hp_relaxed.owl 2018-09-12 00:35:41+00:00 owl:Class HP:0025553 biolink:NamedThing Periorbital ecchymosis with tarsal plate sparing Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate. tmpxe7fu0cj_hp_relaxed.owl Raccoon eyes 2017-07-09 13:16:35+00:00 HPO:probinson owl:Class CHEBI:33693 biolink:NamedThing oxygen hydride tmpxe7fu0cj_hp_relaxed.owl oxygen hydride|hydrides of oxygen|oxygen hydrides chebi_ontology owl:Class CHEBI:36902 biolink:NamedThing chalcogen hydride tmpxe7fu0cj_hp_relaxed.owl chalcogen hydrides|chalcogen hydride chebi_ontology owl:Class HP:0006144 biolink:NamedThing Shortening of all proximal phalanges of the fingers Congenital hypoplasia of proximal phalanx of finger or all fingers. tmpxe7fu0cj_hp_relaxed.owl Shortening of all innermost bones of the fingers UMLS:C4025089 HP:0006021 human_phenotype owl:Class HP:0011909 biolink:NamedThing Flattened metacarpal heads Abnormally flat shape of the heads of the metacarpal bones. tmpxe7fu0cj_hp_relaxed.owl Flattened head of long bone of hand UMLS:C4023134 The metacarpal heads articulate with the proximal phalanges of the fingers. peter 2012-06-03T10:23:40Z human_phenotype owl:Class HP:0003960 biolink:NamedThing Exostoses of the forearm bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025478 human_phenotype owl:Class GO:0032886 biolink:NamedThing regulation of microtubule-based process Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0032696 biolink:NamedThing Focal cognitive seizure with receptive dysphasia/aphasia A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. peter owl:Class UBERON:7500038 biolink:NamedThing line from the distal-most end of the longest nail to the posterior-most part of the foot An anatomical line of a hindfoot that connects the distal-most part of the longest nail to the posterior-most part of a foot. tmpxe7fu0cj_hp_relaxed.owl https://orcid.org/0000-0003-2699-3066 uberon owl:Class HP:0007717 biolink:NamedThing Chronic irritative conjunctivitis A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024810 human_phenotype owl:Class HP:0000509 biolink:NamedThing Conjunctivitis Inflammation of the conjunctiva. tmpxe7fu0cj_hp_relaxed.owl Pink eye|Conjunctivitis, recurrent SNOMEDCT_US:9826008|UMLS:C0009763|MSH:D003231|UMLS:C1864156 human_phenotype owl:Class UBERON:0001977 biolink:NamedThing blood serum The portion of blood plasma that excludes clotting factors. tmpxe7fu0cj_hp_relaxed.owl serum MA:0002502|UMLS:C0229671|EHDAA2:0004728|BTO:0001239|NCIT:C13325|EMAPA:35770|CALOHA:TS-0923|FMA:63083|BTO:0000133 uberon owl:Class HP:4000012 biolink:NamedThing Necrotizing ileitis tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 13:10:00+00:00 robinp owl:Class HP:0032564 biolink:NamedThing Ileitis Inflammation of the ileum. tmpxe7fu0cj_hp_relaxed.owl Inflammation of the ileum 2019-06-19 10:14:03+00:00 Ileitis may present acutely with right lower quadrant pain and/or diarrhea, or with chronic obstructive symptoms and bleeding. peter owl:Class HP:0030901 biolink:NamedThing Pruritis on breast Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast. tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0045937 biolink:NamedThing positive regulation of phosphate metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates. tmpxe7fu0cj_hp_relaxed.owl positive regulation of phosphate metabolism|upregulation of phosphate metabolic process|stimulation of phosphate metabolic process|up-regulation of phosphate metabolic process|activation of phosphate metabolic process|up regulation of phosphate metabolic process biological_process owl:Class HP:0033458 biolink:NamedThing Elevated urine 4-methyl-2-oxopentanoic acid level Increased amount of 4-methyl-2-oxopentanoic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urine alpha-ketoisocaproic acid level 2021-01-09 22:08:13+00:00 peter owl:Class UBERON:0000119 biolink:NamedThing cell layer Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium. tmpxe7fu0cj_hp_relaxed.owl layer of cells|cell sheath|layer|sheath of cells NCIT:C66831 consider adding to caro uberon owl:Class HP:0030633 biolink:NamedThing Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073103 owl:Class HP:0030629 biolink:NamedThing Perifoveal ring of hyperautofluorescence tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073099 owl:Class HP:0500231 biolink:NamedThing Abnormal CSF pyruvate family amino acid concentration Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal pyruvate-family amino acid levels in cerebrospinal fluid 2019-02-25 20:53:35+00:00 owl:Class HP:0030847 biolink:NamedThing Abnormal jugular venous pressure An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0520860|SNOMEDCT_US:62436006 owl:Class HP:0100677 biolink:NamedThing Vulval varicose vein Varicosity of veins in the vulval region. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:48868008|UMLS:C0155796 doelkens 2010-12-30T01:36:39Z human_phenotype owl:Class GO:1904376 biolink:NamedThing negative regulation of protein localization to cell periphery Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cell periphery. tmpxe7fu0cj_hp_relaxed.owl down regulation of protein localization to cell periphery|downregulation of protein localization to cell periphery|inhibition of protein localization to cell periphery|down-regulation of protein localization to cell periphery sl 2015-06-22T22:09:32Z biological_process owl:Class HP:0025206 biolink:NamedThing Triggered by cold Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings. tmpxe7fu0cj_hp_relaxed.owl Triggered by cold temperature|Cold triggered symptoms 2016-12-10 13:44:40+00:00 HPO:probinson owl:Class HP:0003508 biolink:NamedThing Proportionate short stature A kind of short stature in which different regions of the body are shortened to a comparable extent. tmpxe7fu0cj_hp_relaxed.owl Short stature, proportionate|Proportionate small stature UMLS:C0878660 HP:0003499 human_phenotype owl:Class HP:0000434 biolink:NamedThing Nasal mucosa telangiectasia Telangiectasia of the nasal mucosa. tmpxe7fu0cj_hp_relaxed.owl Angioectasia of mucosa of nose|Spider veins of nasal mucous membrane|Telangiectasia of mucous membrane of nose|Spider veins of mucosa of nose|Telangiectasia of nasal mucous membrane|Spider veins of mucous membrane of nose|Telangiectasia of mucosa of nose|Angioectasia of nasal mucous membrane|Nasal mucous membrane telangiectasia|Angioectasia of mucous membrane of nose UMLS:C4025853 owl:Class UBERON:0015091 biolink:NamedThing distal carpal bone 3 cartilage A distal carpal bone 3 endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0015090 biolink:NamedThing distal carpal bone 3 endochondral element tmpxe7fu0cj_hp_relaxed.owl distal carpal 3 uberon owl:Class GO:0080144 biolink:NamedThing amino acid homeostasis Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl dhl 2010-01-27T04:47:27Z biological_process owl:Class HP:0011080 biolink:NamedThing Abnormal premolar morphology An abnormality of morphology of premolar tooth. tmpxe7fu0cj_hp_relaxed.owl Abnormality of bicuspid morphology|Abnormality of premolar morphology|Abnormality of shape of bicuspid|Abnormality of shape of premolar UMLS:C4023545 peter 2011-03-11T10:33:42Z owl:Class GO:0046620 biolink:NamedThing regulation of organ growth Any process that modulates the frequency, rate or extent of growth of an organ of an organism. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:1902850 biolink:NamedThing microtubule cytoskeleton organization involved in mitosis Any microtubule cytoskeleton organization that is involved in mitosis. tmpxe7fu0cj_hp_relaxed.owl microtubule cytoskeleton organization and biogenesis involved in mitosis|microtubule cytoskeleton organisation involved in mitosis|microtubule dynamics involved in mitosis vw 2014-04-02T14:19:38Z biological_process owl:Class CL:0002585 biolink:NamedThing retinal blood vessel endothelial cell A blood vessel endothelial cell that is part of the retina. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-03-06T03:28:27Z cell owl:Class HP:0002967 biolink:NamedThing Cubitus valgus Abnormal positioning in which the elbows are turned out. tmpxe7fu0cj_hp_relaxed.owl Outward turned elbows UMLS:C0158465|SNOMEDCT_US:54583007 human_phenotype owl:Class GO:0099003 biolink:NamedThing vesicle-mediated transport in synapse Any vesicle-mediated transport that occurs in a synapse. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0017615 biolink:NamedThing vomerine dentition A set of teeth in which each tooth that attaches to a vomer. tmpxe7fu0cj_hp_relaxed.owl vomerine teeth AAO:0000635 uberon owl:Class NBO:0000280 biolink:NamedThing attraction-related behavior tmpxe7fu0cj_hp_relaxed.owl 2011-04-04T09:16:35Z George Gkoutos behavior_ontology owl:Class GO:0045648 biolink:NamedThing positive regulation of erythrocyte differentiation Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl upregulation of erythrocyte differentiation|activation of erythrocyte differentiation|up-regulation of erythrocyte differentiation|up regulation of erythrocyte differentiation|positive regulation of RBC differentiation|stimulation of erythrocyte differentiation|positive regulation of red blood cell differentiation biological_process owl:Class HP:0002384 biolink:NamedThing Focal impaired awareness seizure Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal seizures with impairment of consciousness or awareness|Localized seizure with impaired awareness|Complex partial seizure|Partial seizure with loss of awareness|Partial dyscognitive seizure|Localised seizure with loss of awareness|Focal impaired awareness seizures|Localised dyscognitive seizure|Complex partial seizures|Complex focal seizures|Localized seizure with loss of awareness|Dyscognitive seizures|Localised seizure with impaired awareness|Partial seizure with impairment of awareness|Focal seizure with impairment of awareness|Localized dyscognitive seizure|Focal dyscognitive seizure|Focal seizure with loss of awareness SNOMEDCT_US:4103001|UMLS:C0270834|UMLS:C0149958 Awareness during a seizure is defined as the person being fully aware of themselves and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. The terms 'complex partial seizure' and 'focal dyscognitive seizure' were previously used to denote a focal impaired awareness seizure. HP:0002278 owl:Class HP:0032686 biolink:NamedThing Focal aware cognitive seizure with memory impairment A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011861 biolink:NamedThing Bilateral trilobed lungs Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3164377|SNOMEDCT_US:448648001 peter 2012-05-27T01:09:21Z human_phenotype owl:Class HP:0009776 biolink:NamedThing Adactyly The absence of all phalanges of all the digits of a limb and the associated soft tissues. tmpxe7fu0cj_hp_relaxed.owl Aphalangy|Absent fingers or toes Fyler:4173|UMLS:C0238591|SNOMEDCT_US:275348004|UMLS:C4280394 This descriptor does not require absence of the metacarpal or metatarsal bones. A qualifying phrase is added to specify which limb has the attribute of adactyly. doelkens 2009-02-02T05:44:39Z human_phenotype owl:Class HP:0100773 biolink:NamedThing Cartilage destruction tmpxe7fu0cj_hp_relaxed.owl Cartilage destruction UMLS:C4021973 doelkens 2011-06-07T05:13:50Z human_phenotype owl:Class HP:0005396 biolink:NamedThing Susceptibility to coronavirus 229e Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1852539 human_phenotype owl:Class HP:0009046 biolink:NamedThing Difficulty running Reduced ability to run. tmpxe7fu0cj_hp_relaxed.owl Difficulty running UMLS:C0560346|SNOMEDCT_US:282479002 human_phenotype owl:Class HP:0100961 biolink:NamedThing Enlarged hippocampus Increase in size of the hippocampus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021908 The hippocampus is part of the limbic system and plays a role in long- and short-term memory. doelkens 2012-01-18T06:05:24Z human_phenotype owl:Class HP:0033794 biolink:NamedThing Acral overgrowth Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement. tmpxe7fu0cj_hp_relaxed.owl Acral hypertrophy|Acromegalic growth|Acral enlargement|Acromegaly 2021-05-08 12:21:48+00:00 This term should be used to encode the overgrowth of hands and feet that can be seen in acromegaly, a rare disorder caused by excessive growth hormone production, most commonly from an adenoma of the anterior pituitary gland. The resulting production of insulin-like growth factor 1 causes the characteristic overgrowth of certain tissues resulting in coarsening of facial features, enlarging hands and feet, as well as effects on multiple systems throughout the body. The Figure in PMID:30853479 illustrates large hands with stubby fingers characteristic of acromegaly. peter owl:Class UBERON:0001753 biolink:NamedThing cementum Odontoid tissue that is deposited by cementoblasts onto dentine tissue and functions to attach teeth, odontodes and other odontogenic derivatives to bone tissue and the integument. tmpxe7fu0cj_hp_relaxed.owl cement|cement of tooth|bone of attachment|cementum of tooth|cementum BTO:0002525|XAO:0004196|NCIT:C32276|FMA:55630|MESH:A14.254.646.267|UMLS:C0011343|CALOHA:TS-2163|MA:0002541|VSAO:0000062|EMAPA:35203 The:Periodontium.jpg uberon owl:Class Substance of tooth produced by cementoblasts; surrounds the dentine of the root of the tooth[FMA:55630].|Odontoid tissue that is deposited by cementoblasts onto dentine tissue and functions to attach teeth, odontodes and other odontogenic derivatives to bone tissue and the integument.[VSAO] Cementum, the supporting tissue that anchors mammalian and crocodylian teeth into their sockets, differs among species and can have features of dentine, of bone, and of calcified cartilage, as well as unique features. Cementum is deposited by cementoblasts onto existing dentine. As in bone and dentine, cementoblasts produce an organic matrix, the main constituent of which is collagen type I (Bosshardt, 2005), but cementum, dentine, and bone also share a number of important noncollagenous matrix components such as osteopontin, osteocalcin, bone sialoprotein, a2-HS- glycoprotein, dentine matrix protein, dentine sialoprotein, and den- tine phosphoprotein (McKee et al., 1996; Bosshardt, 2005). it has been argued that in all rodents and ruminants, cementum is a form of calcified cartilage[H&W] GO:0060926 biolink:NamedThing cardiac pacemaker cell development The process whose specific outcome is the progression of a pacemaker cell over time, from its formation to the mature state. Pacemaker cells are specialized cardiomyocytes that are responsible for regulating the timing of heart contractions. tmpxe7fu0cj_hp_relaxed.owl pacemaker cell development dph 2009-09-29T11:51:55Z biological_process owl:Class HP:0001943 biolink:NamedThing Hypoglycemia A decreased concentration of glucose in the blood. tmpxe7fu0cj_hp_relaxed.owl Hypoglycaemia|Low blood sugar SNOMEDCT_US:271327008|MSH:D007003|SNOMEDCT_US:302866003|SNOMEDCT_US:237630007|UMLS:C0020615 HP:0003356 human_phenotype owl:Class CHEBI:22495 biolink:NamedThing aminobenzoic acid tmpxe7fu0cj_hp_relaxed.owl Aminobenzoesaeure|aminobenzoic acid 0 C7H7NO2 137.136 137.04768 chebi_ontology owl:Class HP:0011278 biolink:NamedThing Intrapulmonary sequestration A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023436 peter 2011-12-31T07:43:28Z human_phenotype owl:Class HP:0100632 biolink:NamedThing Pulmonary sequestration The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration). tmpxe7fu0cj_hp_relaxed.owl Cystic lung lesion SNOMEDCT_US:18620009|MSH:D001998|UMLS:C4020703|UMLS:C0006288 doelkens 2010-12-29T05:05:08Z human_phenotype owl:Class HP:0007526 biolink:NamedThing Hypopigmented skin patches on arms tmpxe7fu0cj_hp_relaxed.owl Patchy loss of skin colour on arms|Patchy loss of skin color on arms|Hypopigmented skin patches on arms UMLS:C4024852 human_phenotype owl:Class HP:0410226 biolink:NamedThing Increased anti-feather IgE antibody level Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers. tmpxe7fu0cj_hp_relaxed.owl 2018-10-03 18:40:30+00:00 owl:Class GO:0097475 biolink:NamedThing motor neuron migration The orderly movement of a motor neuron from one site to another. A motor neuron is an efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes movement. tmpxe7fu0cj_hp_relaxed.owl pr 2013-04-23T13:00:46Z biological_process owl:Class HP:0002173 biolink:NamedThing Hypoglycemic seizures tmpxe7fu0cj_hp_relaxed.owl UMLS:C0877056 human_phenotype owl:Class HP:0410236 biolink:NamedThing Increased anti-venom IgE antibody level Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets. tmpxe7fu0cj_hp_relaxed.owl 2018-10-03 22:40:21+00:00 owl:Class HP:0410235 biolink:NamedThing Increased anti-insect IgE antibody level Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches. tmpxe7fu0cj_hp_relaxed.owl 2018-10-03 22:38:30+00:00 owl:Class HP:0410006 biolink:NamedThing Abnormality of ophthalmic artery Abnormality of the first branch of the internal carotid artery. tmpxe7fu0cj_hp_relaxed.owl Ophthalmic artery anomaly UMLS:C4073185 The ophthalmic artery (OA) is the first branch of the internal carotid artery distal to the cavernous sinus. Branches of the OA supply all the structures in the orbit as well as some structures in the nose, face and meninges. owl:Class HP:0034101 biolink:NamedThing Anti-annexin-V antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 14:59:07+00:00 peter owl:Class HP:0031200 biolink:NamedThing Hyaline casts A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. tmpxe7fu0cj_hp_relaxed.owl 2017-06-27 11:00:48+00:00 peter owl:Class HP:0100826 biolink:NamedThing Neoplasm of the nail A tumor (abnormal growth of tissue) of the nail. tmpxe7fu0cj_hp_relaxed.owl Nail tumour|Nail tumor UMLS:C4021961|NCIT:C3262 doelkens 2011-06-09T05:31:21Z owl:Class HP:0100299 biolink:NamedThing Muscle fiber inclusion bodies tmpxe7fu0cj_hp_relaxed.owl Muscle fibre inclusion bodies UMLS:C4022159 This should have logical def changed to reference a generic muscle fiber but this is not yet in CL. doelkens 2010-08-10T02:21:34Z human_phenotype owl:Class HP:0033676 biolink:NamedThing Posttraumatic stress symptom A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating). tmpxe7fu0cj_hp_relaxed.owl PTSD 2021-03-02 00:54:28+00:00 This term is intended to be used if no additional information is available. If possible, more specific terms should be used. peter owl:Class HP:0025186 biolink:NamedThing Marcus Gunn jaw winking synkinesis Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. tmpxe7fu0cj_hp_relaxed.owl Pterygoid-levator synkinesis|Trigemino-oculomotor synkinesis|Marcus Gunn jaw-winking syndrome 2016-12-04 22:17:24+00:00 HPO:probinson owl:Class HP:0007556 biolink:NamedThing Plantar hyperkeratosis Hyperkeratosis affecting the sole of the foot. tmpxe7fu0cj_hp_relaxed.owl Plantar hyperkeratoses UMLS:C1856954 HP:0007382|HP:0007445 human_phenotype owl:Class HP:0500155 biolink:NamedThing Abnormal circulating asparagine concentration Any deviation from the normal concentration of asparagine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of asparagine metabolism 2018-10-05 15:06:56+00:00 Asparagine is a polar, aliphatic amino acid. owl:Class HP:0006597 biolink:NamedThing Diaphragmatic paralysis The presence of a paralyzed diaphragm. tmpxe7fu0cj_hp_relaxed.owl Paralysed diaphragm|Paralyzed diaphragm|Diaphragmatic paralysis SNOMEDCT_US:64228003|UMLS:C0035232|MSH:D012133 Loss of the ability to move the diaphragm for respiratory motions. Patients with complete diaphragm paralysis complain of gross orthopnoea, disturbed sleep and early morning headaches. They have shortness of breath on minimal exertion and, because they sleep poorly, they experience daytime fatigue. human_phenotype owl:Class GO:2000610 biolink:NamedThing negative regulation of thyroid hormone generation tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0000769 biolink:NamedThing Abnormality of the breast An abnormality of the breast. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the breast UMLS:C4025829 human_phenotype owl:Class HP:0011716 biolink:NamedThing Junctional ectopic tachycardia Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:419166005|MSH:D013613|UMLS:C0039235|SNOMEDCT_US:233901002 peter 2012-04-11T08:42:28Z human_phenotype owl:Class HP:0011687 biolink:NamedThing AV nodal tachycardia A type of supraventricular tachycardia that originates in the atrioventricular node. tmpxe7fu0cj_hp_relaxed.owl AV nodal tachycardia|Atrioventricular nodal tachycardia UMLS:C0857265 peter 2012-04-10T08:45:26Z human_phenotype owl:Class GO:0045987 biolink:NamedThing positive regulation of smooth muscle contraction Any process that activates or increases the frequency, rate or extent of smooth muscle contraction. tmpxe7fu0cj_hp_relaxed.owl up-regulation of smooth muscle contraction|activation of smooth muscle contraction|stimulation of smooth muscle contraction|upregulation of smooth muscle contraction|up regulation of smooth muscle contraction biological_process owl:Class GO:0072175 biolink:NamedThing epithelial tube formation The developmental process pertaining to the initial formation of an epithelial tube. tmpxe7fu0cj_hp_relaxed.owl mah 2010-02-26T02:15:40Z biological_process owl:Class HP:0030831 biolink:NamedThing Rhonchi Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds. tmpxe7fu0cj_hp_relaxed.owl MSH:D012135|UMLS:C0035508|SNOMEDCT_US:24612001 Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less. owl:Class UBERON:0000959 biolink:NamedThing optic chiasma A decussation of the diencephalon where the fibers of the optic nerve cross. tmpxe7fu0cj_hp_relaxed.owl optic chiasm|decussation of optic nerve fibers|chiasma opticum|chiasma|optic chiasm (Rufus of Ephesus)|chiasma nervorum opticorum BIRNLEX:1416|MA:0001098|DHBA:10644|DMBA:17783|AAO:0010622|EMAPA:17603|VHOG:0000190|EHDAA:10227|UMLS:C0029126|NCIT:C90609|BAMS:ox|BAMS:och|BM:Tel-OCX|EHDAA2:0001302|HBA:9310|BAMS:DC|FMA:62045|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=459|XAO:0004071|ZFA:0000556|GAID:832|TAO:0000556|MBA:117|BAMS:OC|MESH:D009897 http://upload.wikimedia.org/wikipedia/commons/b/b3/1543%2CVisalius%27OpticChiasma.jpg uberon owl:Class The point at which fibers of the optic nerves cross.[AAO] The chiasm has been studied in great detail in some animals, while in others relatively little or nothing is known. Although there are some gross architectural features that are conserved within some animals, such as birds and fish, the general picture is one of diversity. This review will attempt to consider the key features of such diversity of chiasmatic organisation in vertebrates and the mechanisms that sculpt them from the limited literature that is available. However, as so much research has been undertaken on the structure and development of the chiasm in laboratory animals, any review must consider the information that has been gleaned from them and hope that future studies will determine whether the features revealed in these animals, and the underlying mechanisms that generate them, have a common vertebrate plan.[uncertain][VHOG] HP:0006248 biolink:NamedThing Limited wrist movement An abnormal limitation of the mobility of the wrist. tmpxe7fu0cj_hp_relaxed.owl Limited movement of the wrist|Limited wrist movement UMLS:C1840088 human_phenotype owl:Class GO:1905522 biolink:NamedThing negative regulation of macrophage migration Any process that stops, prevents or reduces the frequency, rate or extent of macrophage migration. tmpxe7fu0cj_hp_relaxed.owl down regulation of macrophage migration|inhibition of macrophage migration|down-regulation of macrophage migration|downregulation of macrophage migration sl 2016-10-03T15:29:14Z biological_process owl:Class HP:0030186 biolink:NamedThing Kinetic tremor Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. tmpxe7fu0cj_hp_relaxed.owl Essential tremor UMLS:C0234376|MSH:D020329|SNOMEDCT_US:30721006|UMLS:C0270736|SNOMEDCT_US:609558009|MSH:D014202 owl:Class HP:0008153 biolink:NamedThing Periodic hypokalemic paresis Episodes of muscle weakness associated with reduced levels of potassium in the blood. tmpxe7fu0cj_hp_relaxed.owl Hypokalemic periodic paresis UMLS:C4021553 human_phenotype owl:Class HP:0003768 biolink:NamedThing Periodic paralysis Episodes of muscle weakness. tmpxe7fu0cj_hp_relaxed.owl Episodic paralysis SNOMEDCT_US:198030008|UMLS:C1279412 human_phenotype owl:Class HP:0004246 biolink:NamedThing Delayed ossification of the scaphoid Formation of bone tissue of scaphoid is less than expected for age. tmpxe7fu0cj_hp_relaxed.owl Delayed maturation of the scaphoid UMLS:C4021670 human_phenotype owl:Class HP:0011899 biolink:NamedThing Hyperfibrinogenemia Increased concentration of fibrinogen in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0919890|SNOMEDCT_US:439000005 peter 2012-06-03T03:38:36Z human_phenotype owl:Class HP:0007126 biolink:NamedThing Proximal amyotrophy Amyotrophy (muscular atrophy) affecting the proximal musculature. tmpxe7fu0cj_hp_relaxed.owl Wasting of muscles near the body|Proximal muscle atrophy|Proximal muscle wasting|Symmetrical, proximal limb muscle atrophy|Symmetric proximal muscular atrophy|Muscle atrophy, proximal UMLS:C1850794 Proximal amyotrophy usually has a roughly symmetric distribution. HP:0009041|HP:0006966|HP:0008943|HP:0008980|HP:0006792 human_phenotype owl:Class HP:0030417 biolink:NamedThing Squamous cell carcinoma of the vulva A cancer that originates in the squamous cells that line the surface of the vulva. tmpxe7fu0cj_hp_relaxed.owl Vulval squamous cell carcinoma UMLS:C0280856|SNOMEDCT_US:254895003 owl:Class HP:0006872 biolink:NamedThing Cerebral hypoplasia Underdevelopment of the cerebrum. tmpxe7fu0cj_hp_relaxed.owl Small cerebrum|Underdeveloped cerebrum UMLS:C1855330 HP:0001322 human_phenotype owl:Class UBERON:0009583 biolink:NamedThing spinal cord mantle layer tmpxe7fu0cj_hp_relaxed.owl mantle layer lateral wall spinal cord|spinal cord lateral wall mantle layer EMAPA:17580|VHOG:0000911 uberon owl:Class HP:0030174 biolink:NamedThing Increased peripheral myelin thickness Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022599 owl:Class HP:0012848 biolink:NamedThing Small intestinal stenosis The narrowing or partial blockage of a portion of the small intestine. tmpxe7fu0cj_hp_relaxed.owl Narrowing of small intestine UMLS:C0151924 hecht 2014-06-07T09:00:19Z human_phenotype owl:Class HP:0011674 biolink:NamedThing Cardiac teratoma A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3403|UMLS:C1112387 peter 2012-04-09T12:33:29Z owl:Class HP:3000076 biolink:NamedThing Abnormality of lingual tonsil An abnormality of a lingual tonsil. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073283 vasilevs 2015-08-07T03:39:15Z human_phenotype owl:Class HP:0000588 biolink:NamedThing Optic disc coloboma A cleft of the optic nerve that extends inferiorly. tmpxe7fu0cj_hp_relaxed.owl Coloboma of optic nerve|Optic nerve coloboma|Optic disk coloboma SNOMEDCT_US:17541006|UMLS:C0155299|MSH:C535970|SNOMEDCT_US:44295002 A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure. HP:0007997 owl:Class HP:0410137 biolink:NamedThing Solar urticaria Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light. tmpxe7fu0cj_hp_relaxed.owl 2018-03-02 20:07:52+00:00 ORCID:0000-0001-5208-3432 owl:Class GO:1901192 biolink:NamedThing positive regulation of formation of translation initiation ternary complex Any process that activates or increases the frequency, rate or extent of formation of translation initiation ternary complex. tmpxe7fu0cj_hp_relaxed.owl up-regulation of translation initiation ternary complex assembly|up-regulation of formation of translation initiation ternary complex|positive regulation of translation initiation ternary complex assembly|upregulation of formation of translation initiation ternary complex|activation of translation initiation ternary complex assembly|up regulation of translation initiation ternary complex assembly|activation of formation of translation initiation ternary complex|up regulation of formation of translation initiation ternary complex|upregulation of translation initiation ternary complex assembly ss 2012-07-25T02:27:29Z biological_process owl:Class HP:0025589 biolink:NamedThing Cyclodeviation Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 19:57:49+00:00 Patients with torsional deviations rarely complain of torsional diplopia and thus, cyclotropia has largely not been of significant clinical concern. HPO:probinson owl:Class HP:0001622 biolink:NamedThing Premature birth The birth of a baby of less than 37 weeks of gestational age. tmpxe7fu0cj_hp_relaxed.owl Premature delivery|Premature delivery of affected infants|Premature birth|Preterm birth|Preterm delivery|Shortened gestation time SNOMEDCT_US:49550006|SNOMEDCT_US:367494004|SNOMEDCT_US:282020008|UMLS:C0233315|MSH:D047928|UMLS:C0151526 owl:Class GO:0043434 biolink:NamedThing response to peptide hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. tmpxe7fu0cj_hp_relaxed.owl response to polypeptide hormone stimulus|response to peptide hormone stimulus biological_process owl:Class UBERON:0006289 biolink:NamedThing rib pre-cartilage condensation A rib endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl EMAPA:17397|EHDAA2:0001717|EHDAA:6026|VHOG:0000681 uberon owl:Class HP:0032171 biolink:NamedThing Bladder pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case. tmpxe7fu0cj_hp_relaxed.owl 2018-12-16 15:23:31+00:00 peter owl:Class PATO:0001597 biolink:NamedThing everted An oriented quality inhering in a bearer by virtue of the bearer's being turned outward in placement. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0030563 biolink:NamedThing Best corrected visual acuity 1.0 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073036 owl:Class HP:0032231 biolink:NamedThing Hypochromia A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells. tmpxe7fu0cj_hp_relaxed.owl 2019-01-26 14:52:08+00:00 peter owl:Class HP:3000073 biolink:NamedThing Abnormality of levator veli palatini muscle An abnormality of a levator veli palatini. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073280 vasilevs 2015-08-07T03:39:01Z human_phenotype owl:Class GO:0032984 biolink:NamedThing protein-containing complex disassembly The disaggregation of a protein-containing macromolecular complex into its constituent components. tmpxe7fu0cj_hp_relaxed.owl protein complex disassembly|cellular protein complex disassembly|cellular macromolecule complex disassembly|macromolecule complex disassembly https://github.com/geneontology/go-ontology/issues/22580 GO:0034623|GO:0043241|GO:0043624 biological_process owl:Class HP:0006801 biolink:NamedThing Hyperactive deep tendon reflexes tmpxe7fu0cj_hp_relaxed.owl UMLS:C1846176 HP:0007259 human_phenotype owl:Class HP:0007675 biolink:NamedThing Progressive night blindness tmpxe7fu0cj_hp_relaxed.owl Progressive night blindness UMLS:C4024818 human_phenotype owl:Class HP:0000662 biolink:NamedThing Nyctalopia Inability to see well at night or in poor light. tmpxe7fu0cj_hp_relaxed.owl Difficulties with night vision|Night-blindness|Poor night vision|Night blindness MSH:D009755|UMLS:C0028077|SNOMEDCT_US:65194006|UMLS:C4020885 HP:0007725|HP:0007895|HP:0007865|HP:0007653 owl:Class HP:0032361 biolink:NamedThing Decreased post-bronchodilator forced expiratory flow 25-75% A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication. tmpxe7fu0cj_hp_relaxed.owl Decreased postbronchodilator forced expiratory flow 25-75%|Decreased post-bronchodilator FEF25-75%|Decreased post bronchodilator forced expiratory flow 25-75% 2019-02-23 17:19:17+00:00 peter owl:Class HP:0005939 biolink:NamedThing Multiple bilateral pneumothoraces tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025099 human_phenotype owl:Class CHEBI:77941 biolink:NamedThing EC 3.5.1.4 (amidase) inhibitor An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4). tmpxe7fu0cj_hp_relaxed.owl acylamidase inhibitors|amidohydrolase inhibitors|deaminase inhibitors|amidase inhibitor|amidohydrolase inhibitor|N-acetylaminohydrolase inhibitor|amidase inhibitors|amidase (EC 3.5.1.4) inhibitors|acylamide amidohydrolase inhibitor|acylamide amidohydrolase inhibitors|EC 3.5.1.4 (amidase) inhibitors|deaminase inhibitor|fatty acylamidase inhibitors|amidase (EC 3.5.1.4) inhibitor|EC 3.5.1.4 inhibitor|EC 3.5.1.4 inhibitors|N-acetylaminohydrolase inhibitors|acylamidase inhibitor|fatty acylamidase inhibitor Wikipedia:Amidase chebi_ontology owl:Class CHEBI:37627 biolink:NamedThing L-glucopyranose The L-enantiomer of glucopyranose. tmpxe7fu0cj_hp_relaxed.owl WURCS=2.0/1,1,0/[a1211h-1x_1-5]/1/|L-glucopyranose 0 C6H12O6 InChI=1S/C6H12O6/c7-1-2-3(8)4(9)5(10)6(11)12-2/h2-11H,1H2/t2-,3-,4+,5-,6?/m0/s1 WQZGKKKJIJFFOK-ZZWDRFIYSA-N 180.15588 180.06339 OC[C@@H]1OC(O)[C@@H](O)[C@H](O)[C@H]1O Beilstein:2206321|GlyTouCan:G16038XU|GlyGen:G16038XU|Reaxys:2206321 chebi_ontology owl:Class UBERON:0007730 biolink:NamedThing interphalangeal joint of manual digit 3 An interphalangeal joint of manus that is part of a manual digit 3. tmpxe7fu0cj_hp_relaxed.owl interphalangeal joint of middle finger|interphalangeal joint of third digit of hand|interphalangeal joint of manual digit III|interphalangeal joint of third finger FMA:35400|EMAPA:25064 uberon owl:Class HP:0031501 biolink:NamedThing Pelvic mass An abnormal enlargement or swelling in the pelvic region. tmpxe7fu0cj_hp_relaxed.owl 2017-09-18 01:03:03+00:00 peter owl:Class HP:0031001 biolink:NamedThing Minifascicle formation A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle. tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 20:08:29+00:00 peter owl:Class UBERON:0007747 biolink:NamedThing metacarpophalangeal joint of manual digit 5 A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 5. tmpxe7fu0cj_hp_relaxed.owl metacarpophalangeal joint of fifth digit of hand|metacarpo-phalangeal joint of digit 5 of fore-paw|metacarpophalangeal joint of fifth finger|metacarpophalangeal joint of little finger|metacarpophalangeal joint of digit 5|metacarpophalangeal joint of manual digit V EMAPA:25069|FMA:35261 uberon owl:Class HP:3000017 biolink:NamedThing Abnormality of temporalis muscle An abnormality of a temporalis muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073226 vasilevs 2015-02-26T03:59:01Z human_phenotype owl:Class HP:0410011 biolink:NamedThing Abnormality of masticatory muscle Any abnormality of the masticatory muscle. tmpxe7fu0cj_hp_relaxed.owl Abnormality of muscles of mastication UMLS:C4073190 owl:Class UBERON:0010400 biolink:NamedThing spleen trabecular vein One of the veins that feed the splenic vein. tmpxe7fu0cj_hp_relaxed.owl trabecular vein MA:0000760|NCIT:C49779|UMLS:C1710160 uberon owl:Class The trabecular veins are the largest veins inside the spleen. It drains the blood collected in the sinuses of the pulp.[Wikipedia] GO:0044260 biolink:NamedThing cellular macromolecule metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. tmpxe7fu0cj_hp_relaxed.owl cellular macromolecule metabolism|cellular biopolymer metabolic process GO:0034960 biological_process owl:Class HP:0011503 biolink:NamedThing Aplasia of the fovea Congenital absence of the fovea. tmpxe7fu0cj_hp_relaxed.owl Absent fovea UMLS:C4023324 Aplasia of the fovea can occur in aniridia and albinism. peter 2012-04-06T08:40:21Z human_phenotype owl:Class HP:0004955 biolink:NamedThing Generalized arterial tortuosity Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. tmpxe7fu0cj_hp_relaxed.owl Arterial tortuosity, generalised|Generalized twisted arteries|Generalised arterial tortuosity|Arterial tortuosity, generalized|Generalised twisted arteries|Arterial tortuosity, general UMLS:C3279191|UMLS:C1836651 human_phenotype owl:Class HP:0034004 biolink:NamedThing Parosmia Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli. tmpxe7fu0cj_hp_relaxed.owl 2021-08-22 14:50:56+00:00 Parosmia should be distinguished from anosmia (lack of sense of smell), hyposmia (reduced sense of smell), and phantosmia (olfactory perception without a stimulus). peter owl:Class GO:0010243 biolink:NamedThing response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. tmpxe7fu0cj_hp_relaxed.owl response to organic nitrogen biological_process owl:Class HP:0031525 biolink:NamedThing Keratoacanthoma Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals. tmpxe7fu0cj_hp_relaxed.owl 2017-09-23 02:14:55+00:00 peter owl:Class PR:P02771 biolink:NamedThing alpha-fetoprotein (human) An alpha-fetoprotein that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl AFP|alpha-fetoglobulin (human)|alpha-1-fetoprotein (human)|hAFP|HPAFP UniProtKB:P02771 Category=organism-gene. protein owl:Class HP:0006190 biolink:NamedThing Radially deviated wrists tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861316 human_phenotype owl:Class HP:0009486 biolink:NamedThing Radial deviation of the hand An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb). tmpxe7fu0cj_hp_relaxed.owl Radial deviation of hands UMLS:C0575803|SNOMEDCT_US:299035006 doelkens 2009-01-15T10:51:21Z HP:0001203 human_phenotype owl:Class HP:0009812 biolink:NamedThing Amelia involving the upper limbs Amelia of one or both upper limbs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024200 doelkens 2009-02-23T05:06:12Z human_phenotype owl:Class HP:0003109 biolink:NamedThing Hyperphosphaturia An increased excretion of phosphates in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine phosphate levels|Phosphaturia SNOMEDCT_US:22450000|UMLS:C0948023|UMLS:C0268079 HP:0003266 human_phenotype owl:Class HP:0100296 biolink:NamedThing Perifascicular muscle fiber atrophy tmpxe7fu0cj_hp_relaxed.owl Perifascicular muscle fibre atrophy SNOMEDCT_US:87196003|UMLS:C0333757 doelkens 2010-08-10T01:59:54Z human_phenotype owl:Class HP:0041212 biolink:NamedThing Fractured proximal phalanx of digit 3 A partial or complete breakage of the proximal phalanx of digit 3. tmpxe7fu0cj_hp_relaxed.owl bone proximal phalanx of digit 3 owl:Class HP:0000336 biolink:NamedThing Prominent supraorbital ridges Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. tmpxe7fu0cj_hp_relaxed.owl Hyperplasia of supraorbital margins|Protruding supraorbital ridge|Prominent supraorbital ridge|Prominent supraorbital margins|Supraorbital hyperostosis|Hyperplasia of supraorbital ridge|Hypertrophy of supraorbital margins|Prominent brow|Hypertrophy of supraorbital ridge UMLS:C1842060|UMLS:C4280638|UMLS:C4280637|UMLS:C4280639|UMLS:C4280636 human_phenotype owl:Class HP:0033728 biolink:NamedThing Mesangial proliferative lupus nephritis A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy. tmpxe7fu0cj_hp_relaxed.owl Class II lupus nephritis 2021-04-16 13:36:24+00:00 peter owl:Class HP:0000934 biolink:NamedThing Chondrocalcinosis Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . tmpxe7fu0cj_hp_relaxed.owl Calcium deposits in joints UMLS:C0553730|MSH:D002805|SNOMEDCT_US:239832006|SNOMEDCT_US:201637001|SNOMEDCT_US:239838005 human_phenotype owl:Class HP:0100685 biolink:NamedThing Abnormal Sharpey fiber morphology An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. tmpxe7fu0cj_hp_relaxed.owl Enthesis abnormality|Abnormality of Sharpey fibers|Abnormality of Sharpey fibres|Abnormal Sharpey fibre morphology UMLS:C4021997|UMLS:C4020701 doelkens 2010-12-30T02:25:32Z human_phenotype owl:Class GO:0021618 biolink:NamedThing hypoglossal nerve morphogenesis The process in which the anatomical structure of the hypoglossal nerve is generated and organized. This motor nerve innervates all the intrinsic and all but one of the extrinsic muscles of the tongue. tmpxe7fu0cj_hp_relaxed.owl CN XII morphogenesis biological_process owl:Class GO:1901317 biolink:NamedThing regulation of flagellated sperm motility tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0031996 biolink:NamedThing Inspiratory crackles Crackles that are heard during the inspiratory phase. tmpxe7fu0cj_hp_relaxed.owl 2018-07-15 21:46:52+00:00 peter owl:Class GO:0000035 biolink:NamedThing acyl binding Binding to an acyl group, any group formally derived by removal of the hydroxyl group from the acid function of a carboxylic acid. tmpxe7fu0cj_hp_relaxed.owl acyl-CoA or acyl binding molecular_function owl:Class CHEBI:37247 biolink:NamedThing elemental potassium tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class GO:0050839 biolink:NamedThing cell adhesion molecule binding Binding to a cell adhesion molecule. tmpxe7fu0cj_hp_relaxed.owl adhesive extracellular matrix constituent|CAM binding|cell adhesion molecule activity|cell adhesion receptor activity molecular_function owl:Class HP:0032448 biolink:NamedThing Achlorhydria A condition in which production of hydrochloric acid in the stomach is absent. tmpxe7fu0cj_hp_relaxed.owl 2019-03-03 17:54:51+00:00 Gastric acid is the fluid secreted by the stomach. It is composed of hydrochloric acid, potassium chloride, and sodium chloride. Hydrochloric acid plays an integral part in the digestion of food and protects our body against pathogens ingested with food or water. The parietal cells lining the stomach are mainly involved in its production. peter owl:Class UBERON:0011953 biolink:NamedThing stomach glandular region A region of the stomach that is lined with glandular epithelium. tmpxe7fu0cj_hp_relaxed.owl glandular stomach UMLS:C0227197|NCIT:C77661|SCTID:27633001|MA:0001613|EMAPA:17623 as currently defined, this would include the cardiac antrum; however, the intent may be to exclude the cardiac glands and in mice for this to be part of the region distal to the margo plicatus uberon owl:Class UBERON:0009870 biolink:NamedThing zone of stomach A division of the stomach. The stomach can be divided based on mucosal histology (glandular epithelium and gastric glands) and the relative position and type of gastric gland. tmpxe7fu0cj_hp_relaxed.owl gastric zone|region of stomach|section of stomach EMAPA:35821|SCTID:245415005|MA:0002561|FMA:14558|Wikipedia:Stomach#Sections http://upload.wikimedia.org/wikipedia/commons/2/29/Regions_of_stomach.svg We follow Kardong in defining stomach regions by gland, but we also include 'body of stomach'. In future we may want to have different partitions of the stomach UBERON:0009034 uberon owl:Class CHEBI:131604 biolink:NamedThing Mycoplasma genitalium metabolite Any bacterial metabolite produced during a metabolic reaction in Mycoplasma genitalium. tmpxe7fu0cj_hp_relaxed.owl Mycoplasma genitalium metabolites chebi_ontology owl:Class HP:0032173 biolink:NamedThing Continuous diaphragm sign This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign. tmpxe7fu0cj_hp_relaxed.owl 2019-01-06 10:59:57+00:00 Normally, the central part of the diaphragm is obscured by the heart, and hence is not seen on chest radiographs. Though this sign is commonly seen in pneumomediastinum, it can occasionally be also seen in pneumopericardium. This sign when seen, is a differential tool between pneumomediastinum and pneumothorax. peter owl:Class HP:0031754 biolink:NamedThing Medial rectus muscle overaction Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:26:34+00:00 peter owl:Class HP:0006774 biolink:NamedThing Ovarian papillary adenocarcinoma The presence of a papillary adenocarcinoma of the ovary. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024979|NCIT:C2853 human_phenotype owl:Class HP:0010712 biolink:NamedThing 1-4 toe syndactyly Syndactyly with fusion of toes one to four. tmpxe7fu0cj_hp_relaxed.owl Webbed first through fourth toes UMLS:C4023725 sdoelken 2010-03-26T05:22:26Z owl:Class HP:0011129 biolink:NamedThing Bilateral fetal pyelectasis A bilateral form of fetal pyelectasis. tmpxe7fu0cj_hp_relaxed.owl Bilateral fetal pyelectasia|Bilateral foetal pyelectasia|Bilateral foetal pyelectasis UMLS:C4023523 peter 2011-06-19T10:00:34Z human_phenotype owl:Class GO:0019217 biolink:NamedThing regulation of fatty acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. tmpxe7fu0cj_hp_relaxed.owl regulation of fatty acid metabolism GO:0006632 biological_process owl:Class HP:0011177 biolink:NamedThing EEG with 4-5/second background activity EEG background activity at 4-5/second. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023495 EEG background activity at 4-5/second is rare and unusual but not generally pathologic. hecht 2011-11-19T10:20:59Z human_phenotype owl:Class HP:0008037 biolink:NamedThing Absent anterior chamber of the eye Absence of the anterior chamber of the eye owing to a developmental defect. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:55457007|UMLS:C0271004|SNOMEDCT_US:404675003 human_phenotype owl:Class HP:0100870 biolink:NamedThing Plantar telangiectasia Telangiectases (small dilated blood vessels) located on the skin of sole of foot. tmpxe7fu0cj_hp_relaxed.owl Teleangiectases of soles|Telangiectases of soles|Plantar teleangiectasia UMLS:C4020947 doelkens 2011-11-30T11:19:59Z human_phenotype owl:Class PATO:0001355 biolink:NamedThing convex A shape quality that obtains by virtue of the bearer having inward facing edges; having a surface or boundary that curves or bulges outward, as the exterior of a sphere. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0002005 biolink:NamedThing concavity Surface shape that refers to the inward or outward curvature of the surface. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0006313 biolink:NamedThing Widely spaced primary teeth Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia. tmpxe7fu0cj_hp_relaxed.owl Generalised spacing of primary teeth|Wide gaps between baby teeth|Generalized spacing of primary teeth|Wide gaps between primary teeth|Widely spaced deciduous teeth|Widely spaced baby teeth|Widely spaced milk teeth UMLS:C4021603 human_phenotype owl:Class HP:0003878 biolink:NamedThing Periosteal new bone of humerus tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025533 human_phenotype owl:Class HP:0030314 biolink:NamedThing Periostosis Abnormal deposition of periosteal bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1409412 owl:Class HP:0011409 biolink:NamedThing Abnormal placental membrane morphology Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl Abnormality of placental membranes UMLS:C4023369 peter 2012-03-15T11:07:01Z owl:Class GO:0060251 biolink:NamedThing regulation of glial cell proliferation Any process that modulates the frequency, rate or extent of glial cell proliferation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0099565 biolink:NamedThing chemical synaptic transmission, postsynaptic The part of synaptic transmission occurring in the post-synapse: a signal transduction pathway consisting of neurotransmitter receptor activation and its effects on postsynaptic membrane potential and the ionic composition of the postsynaptic cytosol. tmpxe7fu0cj_hp_relaxed.owl postsynaptic process involved in chemical synaptic transmission biological_process owl:Class HP:0030796 biolink:NamedThing Increased C-peptide level An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion. tmpxe7fu0cj_hp_relaxed.owl Increased C peptide level UMLS:C4280763 C-peptide, which is composed of 31 amino acids, is released from the pancreatic beta-cells following cleavage of insulin from proinsulin. C-peptide levels are generally measured after an overnight fast. owl:Class HP:0004487 biolink:NamedThing Acrobrachycephaly An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:711039004|UMLS:C1863395 human_phenotype owl:Class HP:0009704 biolink:NamedThing Chronic CSF lymphocytosis Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter. tmpxe7fu0cj_hp_relaxed.owl Chronic cerebrospinal fluid lymphocytosis UMLS:C4024229 peter 2009-01-30T06:24:59Z human_phenotype owl:Class HP:0200149 biolink:NamedThing CSF lymphocytic pleiocytosis An increased lymphocyte count in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl CSF lymphocytosis UMLS:C0427877|SNOMEDCT_US:167719009 sebastiankohler 2013-06-13T01:03:23Z human_phenotype owl:Class HP:0004931 biolink:NamedThing Arteriosclerosis of small cerebral arteries Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain. tmpxe7fu0cj_hp_relaxed.owl Hardened artery wall in small cerebral arteries UMLS:C4280505|UMLS:C4025270 human_phenotype owl:Class HP:0200117 biolink:NamedThing Recurrent upper and lower respiratory tract infections Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1842777 sebastiankohler 2013-06-07T01:34:02Z human_phenotype owl:Class HP:0030927 biolink:NamedThing 1-minute APGAR score of 0 tmpxe7fu0cj_hp_relaxed.owl 2016-11-07 18:16:10+00:00 robinp owl:Class UBERON:0006497 biolink:NamedThing interosseous muscle of pes Any of the interosseous muscles of the pes (foot). Includes the plantar and dorsal interossei. tmpxe7fu0cj_hp_relaxed.owl pes interosseous muscle|interosseous muscle of foot|foot interosseous|interosseous of foot|foot interosseus muscle MA:0002302|FMA:37456|UMLS:C0448494|EMAPA:36262|NCIT:C53172 uberon owl:Class Interroseous muscles are short digital muscles found together on the plantar aspect of the hindlimb. They act as shock absorbers for the pes, and closely resemble the interossei found in the forelimb. They originate from the proximal ends of all metatarsal bones and initially insert on the sesamoid bones at the metatarsophalangeal joints. The interosseous are then continued by distal sesamoidean ligaments which join the extensor tendons and attach to the phalanges[MURDOCH:920]. HP:0001986 biolink:NamedThing Hypertonic dehydration tmpxe7fu0cj_hp_relaxed.owl Hyperosmolar dehydration UMLS:C1112601 human_phenotype owl:Class HP:0001944 biolink:NamedThing Dehydration tmpxe7fu0cj_hp_relaxed.owl Exsiccosis|Dehydration MSH:D003681|UMLS:C0011175|SNOMEDCT_US:34095006 owl:Class HP:0008452 biolink:NamedThing Wafer-thin platyspondyly tmpxe7fu0cj_hp_relaxed.owl UMLS:C1865124 human_phenotype owl:Class HP:0004565 biolink:NamedThing Severe platyspondyly tmpxe7fu0cj_hp_relaxed.owl platyspondyly, extreme UMLS:C1850293 HP:0004564 human_phenotype owl:Class HP:0008944 biolink:NamedThing Distal lower limb amyotrophy Muscular atrophy of distal leg muscles. tmpxe7fu0cj_hp_relaxed.owl Lower limb degeneration|Lower limb atrophy|Lower leg amyotrophy|Lower limb muscle hypotrophy|Muscle atrophy, lower limb, distal UMLS:C1836451|UMLS:C3806644|UMLS:C1866863 Distal lower limb muscle atrophy is commonly due to peripheral neuropathy. HP:0008949|HP:0003714|HP:0003442|HP:0009001|HP:0006975 human_phenotype owl:Class HP:0020133 biolink:NamedThing Podocyte hypertrophy Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. tmpxe7fu0cj_hp_relaxed.owl Hypertrophy of visceral epithelial cells|Glomerular visceral epithelial cell hypertrophy Podocytes, also called visceral glomerular epithelial cells, are terminally differentiated cells that line the outer surface of the glomerular basement membrane. Podocytes prevent protein leakage into the urinary space, and also provide important tensile strength to the glomerular capillaries, by opposing the hydrostatic pressure from within. In contrast to glomerular endothelial and mesangial cells, podocytes do not typically proliferate. Studies have shown that following podocyte loss, the inability of podocytes to proliferate contributes to the development of glomerulosclerosis. Consequently, in order to cover the denuded glomerular basement membrane, podocytes increase in size due to hypertrophy. Although this is initially compensatory, podocyte hypertrophy is likely maladaptive, and contributes to glomerulosclerosis. robinp 2019-07-05 17:07:56+00:00 owl:Class GO:0010831 biolink:NamedThing positive regulation of myotube differentiation Any process that activates, maintains or increases the frequency, rate or extent of myotube differentiation. Myotube differentiation is the process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0008198 biolink:NamedThing nail plate The nail plate is the hard and translucent portion of the nail, composed of keratin. tmpxe7fu0cj_hp_relaxed.owl lamina unguis MA:0002708|NCIT:C34216|EMAPA:35583 Fingernail:label.jpg uberon owl:Class in FMA, the nail is the nail plate GO:0006783 biolink:NamedThing heme biosynthetic process The chemical reactions and pathways resulting in the formation of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, from less complex precursors. tmpxe7fu0cj_hp_relaxed.owl heme synthesis|heme biosynthesis|heme formation|haem biosynthetic process|heme anabolism|haem biosynthesis MetaCyc:HEMESYN2-PWY biological_process owl:Class HP:0033437 biolink:NamedThing Elevated circulating 4-methyl-2-oxopentanoic acid concentration Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased circulating alpha-ketoisocaproic acid concentration 2021-01-09 18:28:20+00:00 peter owl:Class HP:0200141 biolink:NamedThing Small, conical teeth tmpxe7fu0cj_hp_relaxed.owl Small, peg shaped teeth|Conical microdontia|Small, cone shaped teeth|Small, pointed teeth UMLS:C1851883|UMLS:C4280285|UMLS:C4280284 sebastiankohler 2013-06-13T11:59:54Z human_phenotype owl:Class HP:0000698 biolink:NamedThing Conical tooth An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. tmpxe7fu0cj_hp_relaxed.owl Cone shaped tooth|Conoid tooth|Peg shaped teeth|Conical teeth|Peg shaped tooth|Pointed tooth|Peg-shaped teeth|Peg tooth|Shark tooth UMLS:C4012359|UMLS:C0266037|SNOMEDCT_US:29553002 A conical shape of a tooth occurs in incisors and canines only. Conical teeth may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately. owl:Class GO:0140352 biolink:NamedThing export from cell The directed movement of some substance from a cell, into the extracellular region. This may occur via transport across the plasma membrane or via exocytosis. tmpxe7fu0cj_hp_relaxed.owl efflux pg 2019-05-22T11:20:45Z biological_process owl:Class HP:0030304 biolink:NamedThing Abnormal number of vertebrae A deviation from the normal number of vertebrae in the spinal column. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022523 owl:Class HP:0031530 biolink:NamedThing Multifocal subretinal deposits Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 00:49:30+00:00 peter owl:Class CL:1001611 biolink:NamedThing cerebellar neuron Neuron of the cerebellum. tmpxe7fu0cj_hp_relaxed.owl cerebellum neuron CALOHA:TS-2359|FMA:84665 owl:Class HP:0002296 biolink:NamedThing Progressive hypotrichosis Progressively reduced or lacking hair growth. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857048 human_phenotype owl:Class HP:0005442 biolink:NamedThing Widely patent coronal suture The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856778 human_phenotype owl:Class UBERON:0001592 biolink:NamedThing bronchial vein The bronchial veins are small vessels that return blood from the larger bronchi and structures at the roots of the lungs. The right side drains into the azygos vein, while the left side drains into the left superior intercostal vein or the accessory hemiazygos vein. The bronchial veins are counterparts to the bronchial arteries. The veins, however, do not return all of the blood supplied by the arteries; much of the blood that is carried in the bronchial arteries is returned to the heart via the pulmonary veins. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl bronchial venous tree MA:0002088|FMA:4749|NCIT:C53031|UMLS:C0226650|EMAPA:36284 uberon owl:Class GO:0061696 biolink:NamedThing pituitary gonadotropin complex A protein complex that is a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. capable of regulating normal growth, sexual development, and reproductive function. tmpxe7fu0cj_hp_relaxed.owl dph 2015-05-06T13:11:18Z cellular_component owl:Class HP:0031992 biolink:NamedThing Apical hypertrophic cardiomyopathy Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity. tmpxe7fu0cj_hp_relaxed.owl 2018-07-09 15:40:34+00:00 peter owl:Class HP:0030299 biolink:NamedThing Distal femoral metaphyseal abnormality An anomaly of the metaphysis of the distal femur (close to the knee). tmpxe7fu0cj_hp_relaxed.owl Abnormality of wide portion of outermost thighbone UMLS:C4022527 owl:Class HP:0025140 biolink:NamedThing Decreased serum estrone A reduction below normal limits of the concentration of estrone in the circulation. tmpxe7fu0cj_hp_relaxed.owl 2016-11-27 14:15:48+00:00 HPO:probinson owl:Class HP:0025138 biolink:NamedThing Abnormal serum estrone A deviation from the normal concentration of circulating estrone. tmpxe7fu0cj_hp_relaxed.owl 2016-11-27 14:14:35+00:00 HPO:probinson owl:Class HP:0009292 biolink:NamedThing Broad distal phalanx of the 4th finger Increased width of the distal phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Broad outermost bone of ring finger|Wide outermost bone of ring finger UMLS:C4024464 doelkens 2009-01-08T04:41:33Z human_phenotype owl:Class HP:0031158 biolink:NamedThing Widened atrophic scar An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility. tmpxe7fu0cj_hp_relaxed.owl 2017-06-18 13:39:46+00:00 peter owl:Class HP:0012679 biolink:NamedThing Widened interpedicular distance An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022784 peter 2014-03-22T12:41:17Z human_phenotype owl:Class HP:0008438 biolink:NamedThing Vertebral arch anomaly A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra. tmpxe7fu0cj_hp_relaxed.owl Vertebral arch abnormalities UMLS:C1835764 A vertebral arch is the posterior part of a vertebra and forms the canal through which the spinal cord passes. A vertebral arch consists of (i) a pair of vertebral pedicles, which are short thick processes that extend from the vertebral body to connect the body to the vertebral arch; (ii) a pari of vertebral laminae (broad plates that extending dorsally and medially from the pedicles fusing with one another to complete the roof of the vertebral arch); (iii) the spinous process (a process that is directed backward and downward from the junction of the laminae and to which muscles and ligaments attach); (iv) two superior articular processes and two inferior articular processes that articulate between two adjacent vertebrae); and (v) two transverse processes that extend at either side from the point where the lamina joins the pedicle, between the superior and inferior articular processes and allow the attachment of muscles and ligaments. human_phenotype owl:Class HP:0005182 biolink:NamedThing Bicuspid pulmonary valve The presence of a bicuspid pulmonary valve. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0344987|Fyler:1601|SNOMEDCT_US:253599005 The pulmonary valve normally has three cusps (flaps), that is, it is normally tricuspid. human_phenotype owl:Class HP:0031566 biolink:NamedThing Abnormal pulmonary valve cusp morphology Any structural anomaly of the pulmonary valve leaflets. tmpxe7fu0cj_hp_relaxed.owl 2017-09-29 23:10:58+00:00 Fyler:1652 peter owl:Class HP:0005300 biolink:NamedThing Nodular inflammatory vasculitis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025219 human_phenotype owl:Class PATO:0001928 biolink:NamedThing blistered A texture quality inhering in a bearer by virtue of a local accumulation of fluid underneath the surface of the bearer. tmpxe7fu0cj_hp_relaxed.owl blistering quality owl:Class HP:0005206 biolink:NamedThing Pancreatic pseudocyst Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0030299|SNOMEDCT_US:111374002|MSH:D010192 human_phenotype owl:Class GO:0005583 biolink:NamedThing fibrillar collagen trimer Any triple helical collagen trimer that forms fibrils. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0025039 biolink:NamedThing Basal ganglia edema Swelling within the basal ganglia due to the accumulation of fluid. tmpxe7fu0cj_hp_relaxed.owl Edema of the basal ganglia|Oedema of the basal ganglia|Basal ganglia oedema 2016-09-25 14:00:54+00:00 HPO:probinson owl:Class CL:0001050 biolink:NamedThing effector CD8-positive, alpha-beta T cell A CD8-positive, alpha-beta T cell with the phenotype CCR7-negative, CD45RA-positive. tmpxe7fu0cj_hp_relaxed.owl effector CD8-positive, alpha-beta T-cell|effector CD8-positive, alpha-beta T lymphocyte|effector CD8+ T cell|effector CD8-positive, alpha-beta T-lymphocyte This cell type is compatible with the HIPC Lyoplate markers for 'effector CD8+ T cell'. The functional characteristics of this cell type currently undefined in CL, which affects its proper placement within the hierarchy. cell owl:Class HP:0100501 biolink:NamedThing Recurrent bronchiolitis An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4015136 doelkens 2010-12-17T05:58:08Z owl:Class HP:0025170 biolink:NamedThing Neuronal/glioneuronal neoplasm of the central nervous system A central nervous system neoplasm with neuronal and, less consistently, glial differentiation. tmpxe7fu0cj_hp_relaxed.owl Neuronal/glioneuronal neoplasm of the CNS|Glioneuronal tumor|Glioneuronal tumour|Neuronal and mixed neuronal-glial tumour|Neuronal and mixed neuronal-glial tumor 2016-12-04 14:30:29+00:00 HPO:probinson owl:Class HP:0033075 biolink:NamedThing Inappropriately normal thyroid-stimulating hormone level A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3. tmpxe7fu0cj_hp_relaxed.owl Inappropriately normal TSH Inappropriately normal TSH may reflect a laboratory error, binding protein abnormalities leading to apparent elevation of FT4 (e.g. familial dysalbuminemic hyperthyroxinemia), antibody interference with measurements of FT4, FT3 or TSH, TSH-secreting pituitary tumour (TSHoma) or a syndrome of thyroid hormone resistance. peter owl:Class GO:0060980 biolink:NamedThing cell migration involved in coronary vasculogenesis The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form the blood vessels of the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-06T02:33:06Z biological_process owl:Class HP:0030802 biolink:NamedThing Lower eyelid retraction Inferior malposition of the lower eyelid margin without eyelid eversion. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:700264006|UMLS:C1861656 This is is not to be confused with ectropion (eyelid eversion). Lower eyelid retraction presents clinically with scleral show; round, sad-looking eyes; lateral canthal tendon laxity; and symptoms of ocular irritation, including photophobia, excessive tearing, and nocturnal lagophthalmos. owl:Class HP:0500043 biolink:NamedThing Eyelid retraction With the eyes in primary position, the sclera is visible above the superior corneal limbus. tmpxe7fu0cj_hp_relaxed.owl 2018-02-05 16:22:49+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0006608 biolink:NamedThing Midclavicular hypoplasia Underdevelopment of the middle portion of the clavicle. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped middle portion of the collarbone UMLS:C1844530 human_phenotype owl:Class HP:0000894 biolink:NamedThing Short clavicles Reduced length of the clavicles. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped clavicles|Short collarbone|Clavicular hypoplasia|Hypoplastic clavicles SNOMEDCT_US:93250003|UMLS:C0426799 HP:0005698|HP:0005902|HP:0000898 human_phenotype owl:Class NBO:0000616 biolink:NamedThing eye contact "A nonverbal communication behavior that is characterised by the meeting the eyes between two individuals." [wikipedia:Eye_contact] tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T04:46:09Z George Gkoutos behavior_ontology owl:Class NBO:0000613 biolink:NamedThing nonverbal communication behavior "Communication behavior related to the process of conveying meaning in the form of non-word messages through for example gesture, body language or posture; facial expression and eye contact etc." [wikipedia:.wikipedia.org/wiki/Nonverbal_communication] tmpxe7fu0cj_hp_relaxed.owl non-verbal communication behaviour|nonverbal communication behaviour 2011-04-14T04:40:59Z George Gkoutos behavior_ontology owl:Class HP:0032053 biolink:NamedThing Focal cortical dysplasia type IIb A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 11:12:48+00:00 Cortical lamination is frequently disrupted with the exception of Layer 1. The myelin content may also be altered in underlying subcortical white matter. Other cortical layer abnormalities are frequently encountered and should not be separately classified, including abnormal isocortical layer organization adjacent to the main lesion, as well as heterotopic neurons in Layer 1 or white matter. Histopathologically similar lesions are observed in cortical tubers and other gross MCDs, i.e. hemimegalencephaly or schizencephaly. peter owl:Class GO:0014859 biolink:NamedThing negative regulation of skeletal muscle cell proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of skeletal muscle cell proliferation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0030913 biolink:NamedThing Exaggerated rugosity of the labia majora Marked rugae formation of the skin of the labia majora. tmpxe7fu0cj_hp_relaxed.owl Scrotum-like labia majora Some rugae formation is typically found on the labia majora, but less than on the scrotum. owl:Class GO:0098920 biolink:NamedThing retrograde trans-synaptic signaling by lipid Cell-cell signaling from postsynapse to presynapse, across the synaptic cleft, mediated by a lipid ligand. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0099541 biolink:NamedThing trans-synaptic signaling by lipid Cell-cell signaling from post to pre-synapse, across the synaptic cleft, mediated by a lipid. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0014780 biolink:NamedThing palatine aponeurosis Attached to the posterior border of the hard palate is a thin, firm fibrous lamella called the palatine aponeurosis, which supports the muscles and gives strength to the soft palate. It is thicker above than below, where it becomes very thin and difficult to define. Laterally it is continuous with the pharyngeal aponeurosis. It serves as the insertion for the Tensor veli palatini and Levator veli palatini, and the origin for the Musculus uvulae, Palatopharyngeus, and Palatoglossus. It provides support for the soft palate. tmpxe7fu0cj_hp_relaxed.owl aponeurosis palatina|aponeurosis of tensor veli palatini FMA:49429 uberon owl:Class HP:0009440 biolink:NamedThing Broad phalanges of the 3rd finger Increased width of the phalanges of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Wide bones of middle finger|Wide/broad middle finger phalanges UMLS:C4021473 doelkens 2009-01-14T04:09:01Z HP:0004166 human_phenotype owl:Class HP:0025613 biolink:NamedThing Focal emotional seizure Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer. tmpxe7fu0cj_hp_relaxed.owl Partial emotional seizure|Focal affective seizure|Affective seizure|Emotional seizure 2018-10-07 16:18:24+00:00 Focal emotional seizures are characterized by alterations in mood or emotion, or the appearance of altered emotion without the subjective emotion, at seizure onset. These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer. Emotions include: fear/anxiety/panic, laughing (gelastic), crying (dacrystic), pleasure, anger. HPO:probinson owl:Class HP:0007606 biolink:NamedThing Multiple cutaneous malignancies tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024834 human_phenotype owl:Class HP:0002912 biolink:NamedThing Methylmalonic acidemia Increased concentration of methylmalonic acid in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating methylmalonic acid concentration UMLS:C0268583|SNOMEDCT_US:42393006|MSH:C537358 Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. HP:0008295|HP:0003123 owl:Class GO:0055026 biolink:NamedThing negative regulation of cardiac muscle tissue development Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle tissue development. tmpxe7fu0cj_hp_relaxed.owl down regulation of cardiac muscle development|negative regulation of heart muscle development|down-regulation of cardiac muscle development|downregulation of cardiac muscle development|inhibition of cardiac muscle development biological_process owl:Class HP:0007064 biolink:NamedThing Progressive language deterioration Progressive loss of previously present language abilities. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843793 owl:Class HP:0031732 biolink:NamedThing Increased basal tear production A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 13:29:32+00:00 peter owl:Class HP:0031731 biolink:NamedThing Increased tear production Increased lacrimation owing to overproduction of tears. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 13:27:49+00:00 peter owl:Class GO:0003433 biolink:NamedThing chondrocyte development involved in endochondral bone morphogenesis The progression of a chondrocyte over time from after its commitment to its mature state where the chondrocyte will contribute to the shaping of an endochondral bone. tmpxe7fu0cj_hp_relaxed.owl dph 2009-12-22T12:42:44Z biological_process owl:Class UBERON:0014385 biolink:NamedThing aryepiglottic fold The entrance of the larynx is a triangular opening, narrow in front, wide behind, and sloping obliquely downward and backward. It is bounded, in front, by the epiglottis; behind, by the apices of the arytenoid cartilages, the corniculate cartilages, and the interarytenoid notch; and on either side, by a fold of mucous membrane, enclosing ligamentous and muscular fibers, stretched between the side of the epiglottis and the apex of the arytenoid cartilage; this is the aryepiglottic fold, on the posterior part of the margin of which the cuneiform cartilage forms a more or less distinct whitish prominence, the cuneiform tubercle. These folds form the upper borders of the quadrangular membrane. tmpxe7fu0cj_hp_relaxed.owl plica aryepiglottica|ary-epiglottic fold|aryepiglottic folds|aryepiglottis|aryepiglottic sphincter FMA:55448|NCIT:C32147|UMLS:C1510944 uberon owl:Class HP:0033428 biolink:NamedThing Systemic autoinflammation Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 17:48:43+00:00 The main cell types of the innate immune system are monocytes, macrophages, and neutrophils and organ damage is mediated by neutrophils and macrophages. peter owl:Class GO:0002683 biolink:NamedThing negative regulation of immune system process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. tmpxe7fu0cj_hp_relaxed.owl down-regulation of immune system process|down regulation of immune system process|inhibition of immune system process|downregulation of immune system process biological_process owl:Class GO:0045728 biolink:NamedThing respiratory burst after phagocytosis A phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. tmpxe7fu0cj_hp_relaxed.owl oxidative burst after phagocytosis|metabolic burst after phagocytosis biological_process owl:Class HP:0001414 biolink:NamedThing Microvesicular hepatic steatosis A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes. tmpxe7fu0cj_hp_relaxed.owl Microvesicular steatosis UMLS:C1850415 This finding can be demonstrated by liver biopsy. human_phenotype owl:Class UBERON:0011847 biolink:NamedThing acinus of parotid gland An acinus that is part of a parotid gland. tmpxe7fu0cj_hp_relaxed.owl parotid gland acinus FMA:59863|EMAPA:37933 uberon owl:Class GO:0036211 biolink:NamedThing protein modification process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). tmpxe7fu0cj_hp_relaxed.owl protein modification bf 2012-04-26T01:47:12Z biological_process owl:Class HP:0032890 biolink:NamedThing Focal impaired awareness sensory seizure with somatosensory features A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011163 biolink:NamedThing Focal sensory seizure with somatosensory features A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation. tmpxe7fu0cj_hp_relaxed.owl Partial somatosensory seizure|Somatosensory auras|Somatosensory aura|Focal somatosensory seizure UMLS:C4023502 These seizures involve the sensorimotor cortex. peter 2011-10-18T02:29:52Z owl:Class CHEBI:83972 biolink:NamedThing 3-methyl fatty acid anion A methyl-branched fatty acid anion obtained by deprotonation of the carboxy group of any 3-methyl fatty acid; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl 3-methyl-branched fatty acid(1-)|3-methyl-branched fatty acid anion|3-methyl fatty acid -1 C4H6O2R 86.089 86.03678 CC([*])CC([O-])=O chebi_ontology owl:Class CHEBI:67013 biolink:NamedThing methyl-branched fatty acid anion Any branched-chain fatty acid anion containing methyl branches only. tmpxe7fu0cj_hp_relaxed.owl methyl-branched fatty acid anions chebi_ontology owl:Class HP:0006385 biolink:NamedThing Short lower limbs Shortening of the legs related to developmental hypoplasia of the bones of the leg. tmpxe7fu0cj_hp_relaxed.owl Short legs|Short lower limbs UMLS:C0426901|SNOMEDCT_US:249786007 HP:0003054 human_phenotype owl:Class UBERON:0015079 biolink:NamedThing proximal carpal cartilage A proximal carpal endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0040305 biolink:NamedThing Increased male libido Increased desire for sexual activity on the part of a male. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0032165 biolink:NamedThing Placental mesenchymal dysplasia Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells. tmpxe7fu0cj_hp_relaxed.owl 2018-12-09 14:14:16+00:00 Placental mesenchymal dysplasia is an unusual abnormality of the stem villi of the placenta that may be mistaken for a hydatidiform mole, and in particular, partial mole, owing to the mixture of cysts and normal-appearing parenchyma. peter owl:Class HP:0025168 biolink:NamedThing Left ventricular diastolic dysfunction Abnormal function of the left ventricule during left ventricular relaxation and filling. tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 14:01:20+00:00 Diastolic left ventricular disease can cause of limitation of exercise tolerance, whether or not ejection fraction is normal. This feature can be assessed by cardiac imaging. HPO:probinson owl:Class UBERON:0005075 biolink:NamedThing forebrain-midbrain boundary An anatomical boundary that adjacent_to a forebrain and adjacent_to a midbrain. tmpxe7fu0cj_hp_relaxed.owl diencephalic-mesencephalic boundary|forebrain midbrain boundary|forebrain-midbrain boundary region TAO:0001367|ZFA:0001367|EMAPA:36449 uberon owl:Class The boundary between the diencephalon and the mesencephalon.[TAO] relationship loss: develops_from forebrain midbrain boundary neural tube (TAO:0007040)[TAO] GO:0032988 biolink:NamedThing ribonucleoprotein complex disassembly The disaggregation of a protein-RNA complex into its constituent components. tmpxe7fu0cj_hp_relaxed.owl RNA-protein complex disassembly|protein-RNA complex disassembly|RNP complex disassembly biological_process owl:Class GO:0005882 biolink:NamedThing intermediate filament tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0041118 biolink:NamedThing Fractured upper limb segment A partial or complete breakage of the upper limb segment. tmpxe7fu0cj_hp_relaxed.owl bone upper limb segment owl:Class GO:0032839 biolink:NamedThing dendrite cytoplasm All of the contents of a dendrite, excluding the surrounding plasma membrane. tmpxe7fu0cj_hp_relaxed.owl dendritic cytoplasm cellular_component owl:Class NBO:0000339 biolink:NamedThing motor coordination "The coordination of combinations of body movements created with the kinematic (such as spatial direction) and kinetic (force) parameters that result in intended actions." [wikipedia:Motor_coordination] tmpxe7fu0cj_hp_relaxed.owl 2011-04-05T03:32:44Z George Gkoutos NBO:0000340 behavior_ontology owl:Class NBO:0000317 biolink:NamedThing vestibular behavior "Behavior related to the awareness of body balance and movement." [MBP:GVG] tmpxe7fu0cj_hp_relaxed.owl proprioception 2011-04-05T10:40:36Z George Gkoutos behavior_ontology owl:Class GO:0086027 biolink:NamedThing AV node cell to bundle of His cell signaling Any process that mediates the transfer of information from an AV node cardiac muscle cell to a bundle of His cardiomyocyte. tmpxe7fu0cj_hp_relaxed.owl AV node cell to bundle of His cell signalling|atrioventricular node to bundle of His cell signaling tb 2011-11-11T02:02:14Z biological_process owl:Class GO:0086067 biolink:NamedThing AV node cell to bundle of His cell communication The process that mediates interactions between an AV node cell and its surroundings that contributes to the process of the AV node cell communicating with a bundle of His cell in cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpxe7fu0cj_hp_relaxed.owl atrioventricular node cell to bundle of His cell communication dph 2011-11-22T09:11:44Z biological_process owl:Class CHEBI:177917 biolink:NamedThing phenolic steroid tmpxe7fu0cj_hp_relaxed.owl a phenolic steroid 0 C18H24O InChI=1S/C18H24O/c1-18-9-2-3-17(18)16-6-4-12-11-13(19)5-7-14(12)15(16)8-10-18/h5,7,11,15-17,19H,2-4,6,8-10H2,1H3 HJKVPZJVBHWFCQ-UHFFFAOYSA-N 256.389 256.18272 C1=C2C(CCC3C4CCCC4(CCC32)C)=CC(=C1)O KEGG:C02453|MetaCyc:PHENOLIC-STEROID chebi_ontology owl:Class HP:0010423 biolink:NamedThing Partial duplication of the proximal phalanx of the 2nd toe Partial duplication of proximal phalanx of second toe. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the innermost 2nd toe bone|Partial duplication of the proximal phalanx of the second toe UMLS:C4021270 doelkens 2009-07-16T12:56:56Z human_phenotype owl:Class GO:0001937 biolink:NamedThing negative regulation of endothelial cell proliferation Any process that stops, prevents, or reduces the rate or extent of endothelial cell proliferation. tmpxe7fu0cj_hp_relaxed.owl inhibition of endothelial cell proliferation|downregulation of endothelial cell proliferation|down regulation of endothelial cell proliferation|down-regulation of endothelial cell proliferation biological_process owl:Class HP:0006727 biolink:NamedThing T-cell acute lymphoblastic leukemias Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:128824003|MSH:D054218|SNOMEDCT_US:277575008|UMLS:C1961099 human_phenotype owl:Class UBERON:0007214 biolink:NamedThing mesenchyme derived from trunk neural crest Mesenchyme that develops_from a trunk neural crest. tmpxe7fu0cj_hp_relaxed.owl trunk neural crest derived mesenchyme|trunk mesenchyme from neural crest ZFA:0000999|EHDAA2:0002093|EMAPA:16182|TAO:0000999 uberon owl:Class UBERON:0009097 biolink:NamedThing gravid organism An organism containing a developing embryo, fetus, or unborn offspring within the body. tmpxe7fu0cj_hp_relaxed.owl pregnant organism|pregnant stage|gravid|pregnant adult|pregnant adult stage BTO:0004733 uberon owl:Class UBERON:0013648 biolink:NamedThing masseteric artery The masseteric artery is small and passes laterally through the mandibular notch to the deep surface of the masseter muscle, which it supplies. It anastomoses with the masseteric branches of the external maxillary artery and with the transverse facial artery. tmpxe7fu0cj_hp_relaxed.owl arteria masseterica FMA:49739|UMLS:C0226149|NCIT:C53052 uberon owl:Class PATO:0001873 biolink:NamedThing cylindrical A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a consistently-sized round cross section. tmpxe7fu0cj_hp_relaxed.owl tubulate|rod-like|rod-shaped PATO:0001203 quality owl:Class HP:0011874 biolink:NamedThing Heparin-induced thrombocytopenia Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0272285|SNOMEDCT_US:73397007 A delay of 5-10 days following administration of heparin is common in patients with no previous (or remote) exposure to heparin, but the drop in platelet count may be precipitous in patients with recent exposure. Heparin-induced thrombocytopenia is caused by antibodies against platelet factor 4. peter 2012-05-30T08:31:16Z human_phenotype owl:Class CHEBI:132362 biolink:NamedThing citrate(4-) A citrate anion obtained by deprotonation of the three carboxy groups as well as the hydroxy group of citric acid. tmpxe7fu0cj_hp_relaxed.owl 2-oxidopropane-1,2,3-tricarboxylate|citric acid tetraanion|2-oxido-1,2,3-propanetricarboxylate -4 C6H4O7 InChI=1S/C6H7O7/c7-3(8)1-6(13,5(11)12)2-4(9)10/h1-2H2,(H,7,8)(H,9,10)(H,11,12)/q-1/p-3 KSXLKRAZYZIYCZ-UHFFFAOYSA-K 188.092 187.99790 C(=O)([O-])C(CC(=O)[O-])(CC(=O)[O-])[O-] Chemspider:34552020 chebi_ontology owl:Class HP:0012465 biolink:NamedThing Elevated hepatic iron concentration An increased level of iron in liver tissues. tmpxe7fu0cj_hp_relaxed.owl Increased iron concentration in liver|Increased liver iron level UMLS:C4022891 This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging. peter 2013-11-24T12:54:57Z human_phenotype owl:Class HP:0100894 biolink:NamedThing Broad xiphoid process Increased side-to-side width of the xiphoid process of the sternum. tmpxe7fu0cj_hp_relaxed.owl Broad xiphisternum UMLS:C4020901 doelkens 2011-12-01T05:10:27Z human_phenotype owl:Class HP:0000546 biolink:NamedThing Retinal degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells. tmpxe7fu0cj_hp_relaxed.owl Retina degeneration MSH:D012162|UMLS:C0035304|SNOMEDCT_US:95695004 HP:0007790|HP:0007893|HP:0007632|HP:0007863 human_phenotype owl:Class HP:0002213 biolink:NamedThing Fine hair Hair that is fine or thin to the touch. tmpxe7fu0cj_hp_relaxed.owl Thin hair texture|Thin hair shaft|Fine hair shaft|Fine hair texture|Fine hair|Thin hair|Thinned hair UMLS:C0423867|SNOMEDCT_US:247546006 HP:0200132 human_phenotype owl:Class HP:0003952 biolink:NamedThing Sclerotic foci of metaphyses of the elbow tmpxe7fu0cj_hp_relaxed.owl Vertical linear mixed lucent and sclerotic pattern of metaphyses UMLS:C4021702 human_phenotype owl:Class HP:0003854 biolink:NamedThing Sclerosis of metaphyses of the upper limbs tmpxe7fu0cj_hp_relaxed.owl Increased bone density in wide portion of the upper limb bones UMLS:C4025551 human_phenotype owl:Class GO:2000573 biolink:NamedThing positive regulation of DNA biosynthetic process Any process that activates or increases the frequency, rate or extent of DNA biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of DNA anabolism|positive regulation of DNA biosynthesis|positive regulation of DNA synthesis|positive regulation of DNA formation yaf 2011-04-04T10:01:20Z biological_process owl:Class UBERON:0004469 biolink:NamedThing musculature of back Any collection of muscles that is part of a back [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscle group of back|muscles of back|set of muscles of back|musculi dorsi FMA:71291 uberon owl:Class CHEBI:79020 biolink:NamedThing alpha,beta-unsaturated monocarboxylic acid A monocarboxylic acid in which the carbon of the carboxy group is directly attached to a C=C or C#C bond. tmpxe7fu0cj_hp_relaxed.owl alpha,beta-unsaturated monocarboxylic acids|2,3-unsaturated monocarboxylic acid|2,3-unsaturated monocarboxylic acids chebi_ontology owl:Class HP:0010992 biolink:NamedThing Stress urinary incontinence Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0042025|SNOMEDCT_US:22220005|MSH:D014550 peter 2011-02-09T12:13:46Z human_phenotype owl:Class HP:0000020 biolink:NamedThing Urinary incontinence Loss of the ability to control the urinary bladder leading to involuntary urination. tmpxe7fu0cj_hp_relaxed.owl Bladder incontinence|Loss of bladder control UMLS:C0042024|SNOMEDCT_US:165232002|MSH:D014549 Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. HP:0008681|HP:0006942 human_phenotype owl:Class HP:0010067 biolink:NamedThing Aplasia/hypoplasia of the 1st metatarsal Absence or underdevelopment of the first metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Absent/small 1st long bone of foot|Absent/underdeveloped 1st long bone of foot UMLS:C4024076 doelkens 2009-05-29T12:13:57Z human_phenotype owl:Class PATO:0001938 biolink:NamedThing rhomboid A spheroid quality inhering in a bearer by virtue of the bearer's being oval and a little angular in the middle. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0005598 biolink:NamedThing Facial telangiectasia in butterfly midface distribution Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution. tmpxe7fu0cj_hp_relaxed.owl Butterfly facial telangiectasia UMLS:C4021632 human_phenotype owl:Class HP:0007380 biolink:NamedThing Facial telangiectasia Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. tmpxe7fu0cj_hp_relaxed.owl Telangiectasia, facial|Facial telangiectatic vessels UMLS:C0858684 HP:0007520 human_phenotype owl:Class HP:0025434 biolink:NamedThing Reduced hemolytic complement activity A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum. tmpxe7fu0cj_hp_relaxed.owl Reduced CH50 2017-04-23 16:53:06+00:00 Individual complement components can be quantified however this does not provide any information as to the activity of the pathway. The CH50 is a screening assay for the activation of the classical complement pathway and it is sensitive to the reduction, absence and/or inactivity of any component of the pathway. The CH50 tests the functional capability of serum complement components of the classical pathway to lyse sheep red blood cells (SRBC) pre-coated with rabbit anti-sheep red blood cell antibody (haemolysin). When antibody-coated SRBC are incubated with test serum, the classical pathway of complement is activated and haemolysis results. If a complement component is absent, the CH50 level will be zero; if one or more components of the classical pathway are decreased, the CH50 will be decreased. HPO:probinson owl:Class HP:0005579 biolink:NamedThing Impaired reabsorption of chloride Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine. tmpxe7fu0cj_hp_relaxed.owl Impaired reabsorption of Cl-|Impaired reabsorption of Cl UMLS:C1846349 human_phenotype owl:Class HP:0008417 biolink:NamedThing Vertebral hypoplasia Small, underdeveloped vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped vertebrae UMLS:C0345394|SNOMEDCT_US:205456006 HP:0008431 human_phenotype owl:Class UBERON:0002458 biolink:NamedThing spinal artery Arteries that supply the spinal cord. tmpxe7fu0cj_hp_relaxed.owl spinal arteries EHDAA:4355|EHDAA2:0001890|UMLS:C0447043|Wikipedia:Spinal_artery|NCIT:C33587|EMAPA:18241|SCTID:244228006|TAO:0000682|MA:0002043|ZFA:0000682 uberon owl:Class HP:0100301 biolink:NamedThing Muscle fiber tubular inclusions Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities. tmpxe7fu0cj_hp_relaxed.owl Muscle fibre tubular aggregates|Muscle fiber tubular aggregates|Muscle fibre tubular inclusions UMLS:C4021024 doelkens 2010-08-10T02:31:27Z human_phenotype owl:Class HP:0032327 biolink:NamedThing Interhemispheric cyst Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system. tmpxe7fu0cj_hp_relaxed.owl 2019-02-16 14:47:30+00:00 peter owl:Class PATO:0001707 biolink:NamedThing behavioural active A behavioral quality of a process inhering in a bearer by virtue of the bearer's exhibiting marked activity. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0002265 biolink:NamedThing behavioural activity A behavioral quality of a process inhering in a bearer by virtue of the bearer's disposition to exhibit marked activity. tmpxe7fu0cj_hp_relaxed.owl 2010-09-21T06:56:58Z quality owl:Class HP:5000017 biolink:NamedThing Anti-Iglon5 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5). tmpxe7fu0cj_hp_relaxed.owl Anti-immunoglobulin-like cell adhesion molecule 5 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0002697 biolink:NamedThing Parietal foramina The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide. tmpxe7fu0cj_hp_relaxed.owl Openings in parietal bones|Holes in parietal bones|Persistent foramina of the parietal bones SNOMEDCT_US:29307005|UMLS:C0222706|SNOMEDCT_US:11240000|UMLS:C4280556 Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the two bones (parietal bones) that form the top and sides of the skull. This condition is due to problems with bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, with variable size ranging from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy. human_phenotype owl:Class GO:0070202 biolink:NamedThing regulation of establishment of protein localization to chromosome Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location on a chromosome. tmpxe7fu0cj_hp_relaxed.owl regulation of establishment of protein localisation to chromosome biological_process owl:Class UBERON:0015088 biolink:NamedThing distal carpal bone 2 cartilage A distal carpal bone 2 endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0033691 biolink:NamedThing Procedural memory loss A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument. tmpxe7fu0cj_hp_relaxed.owl Procedural memory deficit|Impaired procedural memory 2021-03-07 22:55:09+00:00 peter owl:Class HP:0006756 biolink:NamedThing Diffuse leiomyomatosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024984 human_phenotype owl:Class UBERON:0010984 biolink:NamedThing pectoral pre-muscle mass tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001423 uberon owl:Class HP:0012850 biolink:NamedThing Small intestinal dysmotility Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0345200|SNOMEDCT_US:253768006 robinson 2014-06-07T09:15:02Z human_phenotype owl:Class HP:0033979 biolink:NamedThing Excessive dynamic airway collapse Excessive anterior displacement of the tracheal and/or bronchial membranous wall. tmpxe7fu0cj_hp_relaxed.owl Membranous tracheobronchomalacia 2021-07-15 11:33:37+00:00 peter owl:Class HP:0006825 biolink:NamedThing Pallor of dorsal columns of the spinal cord tmpxe7fu0cj_hp_relaxed.owl UMLS:C1865416 human_phenotype owl:Class HP:0011397 biolink:NamedThing Abnormality of the dorsal column of the spinal cord An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023376 The dorsal column represents an ascending pathway mediating well-localized fine touch and conscious proprioception. peter 2012-03-12T07:39:12Z human_phenotype owl:Class HP:0001273 biolink:NamedThing Abnormal corpus callosum morphology Abnormality of the corpus callosum. tmpxe7fu0cj_hp_relaxed.owl Corpus callosum abnormality|Abnormal corpus callosum|Abnormality of the corpus callosum UMLS:C1842581 The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium. HP:0007323 owl:Class GO:0006282 biolink:NamedThing regulation of DNA repair Any process that modulates the frequency, rate or extent of DNA repair. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0004172 biolink:NamedThing Abnormality of the middle phalanx of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl Abnormal middle finger bone of the middle finger UMLS:C4025410 human_phenotype owl:Class HP:0031050 biolink:NamedThing Whole-immunoglobulin paraproteinemia An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells. tmpxe7fu0cj_hp_relaxed.owl 2017-05-27 14:30:25+00:00 peter owl:Class CHEBI:83812 biolink:NamedThing non-proteinogenic amino acid derivative Any derivative of a non-proteinogenic amino acid resulting from reaction at an amino group or carboxy group, or from the replacement of any hydrogen by a heteroatom. tmpxe7fu0cj_hp_relaxed.owl non-canonical amino-acid derivatives|non-proteinogenic amino-acid derivatives|non-canonical amino acid derivative chebi_ontology owl:Class HP:0010225 biolink:NamedThing Pseudoepiphysis of the 4th metacarpal The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023959 doelkens 2009-07-02T04:12:04Z human_phenotype owl:Class HP:0010224 biolink:NamedThing Abnormality of the epiphysis of the 4th metacarpal Any abnormality of the epiphysis of the 4th metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the 4th long bone of hand UMLS:C4023960 doelkens 2009-07-02T04:11:46Z human_phenotype owl:Class UBERON:0005363 biolink:NamedThing inferior vagus X ganglion The large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve). tmpxe7fu0cj_hp_relaxed.owl vagus X inferior ganglion|ganglion nodosum|nodose ganglion|inferior vagus ganglion|inferior ganglion of vagus nerve|nodose ganglia|inferior ganglion of vagus|tenth cranial nerve nodose ganglion|ganglion inferius nervi vagi|vagus nerve inferior ganglion|ganglion inferius (nervus vagus)|ganglion inferius nervus vagi|inferior vagus X|vagus nerve nodose ganglion MA:0001082|EFO:0002516|MESH:D009620|EMAPA:17155|EHDAA2:0004622|FMA:6230|VHOG:0000685 uberon owl:Class These (the epibranchial placodes) are focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches in all vertebrates, and they produce the neuroblasts which migrate and condense to form the distal cranial ganglia: the geniculate, petrosal and nodose ganglia. (...) The one substantial difference between the vertebrate pharyngeal arches and those of the protochordates is the presence of the epibranchial placodes but the evolution of these structures was undoubtedly driven by the endoderm.[well established][VHOG] GO:1904171 biolink:NamedThing negative regulation of bleb assembly Any process that stops, prevents or reduces the frequency, rate or extent of bleb assembly. tmpxe7fu0cj_hp_relaxed.owl downregulation of bleb assembly|inhibition of bleb assembly|down regulation of cell blebbing|inhibition of cell blebbing|downregulation of cell blebbing|negative regulation of cell blebbing|down-regulation of cell blebbing|down-regulation of bleb assembly|down regulation of bleb assembly als 2015-04-23T09:32:25Z biological_process owl:Class HP:0003687 biolink:NamedThing Centrally nucleated skeletal muscle fibers An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). tmpxe7fu0cj_hp_relaxed.owl Centralised nuclei|Centralised sarcomeric nuclei|Central nuclei|Centralized nuclei|Centrally nucleated skeletal muscle fibres|Centralized sarcomeric nuclei UMLS:C1842170 Normally, the nuclei of muscle cells are located peripherally, immediately under the plasma membrane (sarcolemma). human_phenotype owl:Class HP:0007510 biolink:NamedThing Focal dermal aplasia/hypoplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1834069 human_phenotype owl:Class MPATH:603 biolink:NamedThing pathological anatomical entity Anatomically located instance of pathological response or entity. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class GO:0042060 biolink:NamedThing wound healing The series of events that restore integrity to a damaged tissue, following an injury. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Wound_healing biological_process owl:Class GO:0009611 biolink:NamedThing response to wounding Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. tmpxe7fu0cj_hp_relaxed.owl physiological response to wounding GO:0002245 biological_process owl:Class UBERON:0011280 biolink:NamedThing nail of pedal digit 3 A nail that is part of a pedal digit 3. tmpxe7fu0cj_hp_relaxed.owl third toe nail|claw of digit 3 of hind-paw|nail plate of third toe|nail of third toe|nail of pedal digit III EMAPA:18741|FMA:54350 uberon owl:Class UBERON:0008887 biolink:NamedThing rectal venous plexus The hemorrhoidal plexus (or rectal venous plexus) surrounds the rectum, and communicates in front with the vesical venous plexus in the male, and the uterovaginal plexus in the female. A free communication between the portal and systemic venous systems is established through the hemorrhoidal plexus. tmpxe7fu0cj_hp_relaxed.owl plexus haemorrhoidalis|hemorrhoidal plexus|haemorrhoidal plexus|plexus venosus rectalis FMA:18933|UMLS:C0226766|NCIT:C32728 http://upload.wikimedia.org/wikipedia/commons/6/69/Gray587.png uberon owl:Class UBERON:0004449 biolink:NamedThing cerebral artery One of three main pairs of arteries and their branches, which irrigate the cerebrum of the brain. tmpxe7fu0cj_hp_relaxed.owl GAID:484|SCTID:181308008|CALOHA:TS-0126|NCIT:C12691|EHDAA:5294|EMAPA:18613|AAO:0010493|XAO:0000367|BTO:0005205|UMLS:C0007770|EHDAA2:0000233|Wikipedia:Cerebral_artery|MA:0002562|MESH:D002536 uberon owl:Class Part of the internal carotid containing many branches supplying blood to the chorioid plexuses of the brain.[AAO] relationship loss: part_of internal carotid (AAO:0010219)[AAO] in AAO this is part_of the internal carotid, but in humans the PCA intervenes for some cerebral arteries. Proper comparative review required HP:0032954 biolink:NamedThing Renal tubular adenovirus inclusions Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032951 biolink:NamedThing Renal tubular viral cytopathic changes Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0030922 biolink:NamedThing 5-minute APGAR score of 2 tmpxe7fu0cj_hp_relaxed.owl 2016-11-07 18:14:30+00:00 robinp owl:Class HP:0033131 biolink:NamedThing Renal medullary hyperechogenicity Increased echogenecity of the medullary region of the kidney. tmpxe7fu0cj_hp_relaxed.owl Increased renal medullary echogenicity 2020-09-09 12:57:19+00:00 Increased echogenicity of the kidney parenchyma results from the increased presence of material that can reflect sound waves back, thus increasing its brightness on the ultrasonography image. Because fibrous tissue (e.g., glomerulosclerosis, interstitial fibrosis) increases echogenicity, CKD is typically associated with increased echogenicity. Inflammatory infiltrates may explain the increased echogenicity that occurs with acute interstitial nephritis and GN. Proteinaceous casts are thought to cause the increased echogenicity associated with acute tubular necrosis (ATN). Calcium deposits and stones are very echogenic; thus, medullary nephrocalcinosis is characterized by increased medullary echogenicity and a relatively normal-appearing cortex. Several renal diseases are associated with medullary nephrocalcinosis, including medullary sponge kidney, hyperparathyroidism, renal tubular acidosis, and vitamin D toxicity. Other kidney diseases that have been associated with a hyperechoic medulla include sickle cell disease and gout peter owl:Class UBERON:0016442 biolink:NamedThing median palatine suture The line of junction between the horizontal parts of the palatine bones that extends from both sides of the skull to form the posterior part of the hard palate. tmpxe7fu0cj_hp_relaxed.owl midpalatal suture of skull|middle palatine suture of skull|median palatine suture of skull FMA:52966 uberon owl:Class UBERON:0035127 biolink:NamedThing suture of hard palate Any of the sutures of the hard palate. tmpxe7fu0cj_hp_relaxed.owl palatine suture uberon owl:Class HP:0025180 biolink:NamedThing Centrilobular ground-glass opacification on pulmonary HRCT A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules. tmpxe7fu0cj_hp_relaxed.owl Centrilobular groundglass opacification|Centrilobular groundglass opacity 2016-12-04 19:57:32+00:00 HPO:probinson owl:Class HP:0032961 biolink:NamedThing Magnesium ammonium phosphate crystalluria Magnesium ammonium phosphate crystals in the urine. tmpxe7fu0cj_hp_relaxed.owl Struvite urinary crystals peter owl:Class HP:0001081 biolink:NamedThing Cholelithiasis Hard, pebble-like deposits that form within the gallbladder. tmpxe7fu0cj_hp_relaxed.owl Gallstones MSH:D002769|UMLS:C0008350|SNOMEDCT_US:266474003 Gallstones range in size from as small as a grain of sand to as large as a golf ball. Cholesterol gallstones are the most common type of gallstone. Gallstones resulting from too much bilirubin in the bile are referred to as pigment stones. human_phenotype owl:Class GO:0046548 biolink:NamedThing retinal rod cell development Development of a rod cell, one of the sensory cells in the eye that reacts to the presence of light. Rod cells contain the photopigment rhodopsin or porphyropsin and are responsible for vision in dim light. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0035083 biolink:NamedThing transverse process-bearing vertebra A vertebra that has a transverse process. tmpxe7fu0cj_hp_relaxed.owl pygal vertebra|TP vertebra uberon owl:Class HP:0006127 biolink:NamedThing Long proximal phalanx of finger Increased length of the proximal phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Long innermost finger bone UMLS:C4025090 human_phenotype owl:Class HP:0006155 biolink:NamedThing Long phalanx of finger Increased length of multiple or a single phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Long finger bone UMLS:C4025087 human_phenotype owl:Class GO:0060464 biolink:NamedThing lung lobe formation The developmental process pertaining to the initial formation of a lung lobe from unspecified parts. This process begins with the specific processes that contribute to the appearance of the lobe and ends when the structural rudiment is recognizable. A lung lobe is a projection that extends from the lung. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0001268 biolink:NamedThing Mental deterioration Loss of previously present mental abilities, generally in adults. tmpxe7fu0cj_hp_relaxed.owl Cognitive decline, progressive|Mental deterioration|Progressive cognitive decline|Cognitive decline|Intellectual deterioration UMLS:C0234985|MSH:D060825 HP:0007155|HP:0007264|HP:0006822|HP:0002303|HP:0007298|HP:0007253 human_phenotype owl:Class UBERON:0035814 biolink:NamedThing pericardial fat The sum of epicardial and paracardial fat deposits. tmpxe7fu0cj_hp_relaxed.owl ZFA:0005765|SCTID:42267001 uberon owl:Class HP:0033704 biolink:NamedThing Elevated urinary homogentisic acid An increased amount of homogentisic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl 2021-03-12 12:47:05+00:00 This finding is characteristic for alkaptonuria. peter owl:Class CHEBI:33540 biolink:NamedThing thiosulfuric acid tmpxe7fu0cj_hp_relaxed.owl sulfurothioic acid|thiosulfuric acid 0 H2O3S2 114.146 113.94454 chebi_ontology owl:Class CL:0000810 biolink:NamedThing CD4-positive, alpha-beta thymocyte An immature alpha-beta T cell that is located in the thymus and is CD4-positive and CD8-negative. tmpxe7fu0cj_hp_relaxed.owl CD4-positive, alpha-beta immature T lymphocyte|CD4-positive, alpha-beta immature T-lymphocyte|CD4-positive, alpha-beta immature T-cell|SP CD4 cell cell owl:Class HP:3000075 biolink:NamedThing Abnormal lingual nerve morphology Any structural anomaly of a lingual nerve. tmpxe7fu0cj_hp_relaxed.owl Abnormality of lingual nerve UMLS:C4073282 The lingual nerve (LN) is one of the two terminal branches of the posterior division of the mandibular nerve. It supplies the general sensation to the mucosa of the anterior two-thirds of the tongue, the sublingual mucosa, the mandibular lingual gingiva and the floor of the mouth.The chorda tympani nerve, a branch of the facial nerve joins this nerve carrying taste fibers from the anterior two third of the tongue and parasympathetic fibers to the submandibular ganglion. vasilevs 2015-08-07T03:39:10Z human_phenotype owl:Class HP:0010505 biolink:NamedThing Limitation of movement at ankles An abnormal limitation of the mobility of the ankle joint. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023800 peter 2009-09-19T09:47:11Z owl:Class HP:0005037 biolink:NamedThing Proximal radio-ulnar synostosis An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2676443 human_phenotype owl:Class HP:0001232 biolink:NamedThing Nail bed telangiectasia Telangiectases in the area of the nails. tmpxe7fu0cj_hp_relaxed.owl Nail bed telangiectases UMLS:C1838167 owl:Class GO:0007036 biolink:NamedThing vacuolar calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions in the vacuole or between a vacuole and its surroundings. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0033023 biolink:NamedThing Chronic absent circulating IgE A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured. tmpxe7fu0cj_hp_relaxed.owl Chronic (near) absent IgE in blood peter owl:Class HP:0410304 biolink:NamedThing Complete or near-complete absence of specific antibody response to meningococcus vaccine The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 22:04:12+00:00 owl:Class GO:2000405 biolink:NamedThing negative regulation of T cell migration Any process that stops, prevents or reduces the frequency, rate or extent of T cell migration. tmpxe7fu0cj_hp_relaxed.owl negative regulation of T lymphocyte migration|negative regulation of T-lymphocyte migration|negative regulation of T-cell migration mah 2011-02-23T10:48:52Z biological_process owl:Class HP:0025720 biolink:NamedThing Limited horizontal extraocular movement Limited mobility of the eye to move from side to side (horizontally) within its socket. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0007941 biolink:NamedThing Limited extraocular movements Limited mobility of the eye within its socket. tmpxe7fu0cj_hp_relaxed.owl Limited extraocular movement UMLS:C1858427 owl:Class HP:0004404 biolink:NamedThing Abnormal nipple morphology An abnormality of the nipple. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the nipple UMLS:C3839073|SNOMEDCT_US:700153004 peter 2008-03-18T09:18:00Z human_phenotype owl:Class HP:0030386 biolink:NamedThing Abnormal proportion of class-switched memory B cells A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. tmpxe7fu0cj_hp_relaxed.owl Abnormal proportion of CD19+CD27+IgD- cells UMLS:C4072924 owl:Class UBERON:0006642 biolink:NamedThing muscle layer of oviduct A muscle layer that is part of a fallopian tube. tmpxe7fu0cj_hp_relaxed.owl uterine tubal muscularis|muscle layer of uterine tube|muscularis of uterine tube|muscle layer of oviduct|tunica muscularis tubae uterinae|tunica muscularis (Tuba uterina)|muscular layer of uterine tube|muscle layer of fallopian tube|muscular coat of uterine tube FMA:18318|EMAPA:29046 uberon owl:Class GO:1905434 biolink:NamedThing positive regulation of retrograde trans-synaptic signaling by neuropeptide Any process that activates or increases the frequency, rate or extent of retrograde trans-synaptic signaling by neuropeptide. tmpxe7fu0cj_hp_relaxed.owl upregulation of retrograde trans-synaptic signaling by neuropeptide|positive regulation of neuropeptide-mediated retrograde trans-synaptic signaling|up-regulation of retrograde trans-synaptic signaling by neuropeptide|activation of retrograde trans-synaptic signaling by neuropeptide|up regulation of retrograde trans-synaptic signaling by neuropeptide bf 2016-09-14T10:57:02Z biological_process owl:Class HP:0011483 biolink:NamedThing Anterior synechiae of the anterior chamber Adhesions between the iris and the cornea. tmpxe7fu0cj_hp_relaxed.owl Iridocorneal synechia|Anterior synechiae|Cornea-iris adhesion SNOMEDCT_US:70992005|UMLS:C0152252 peter 2012-04-02T08:50:23Z human_phenotype owl:Class HP:0007833 biolink:NamedThing Anterior chamber synechiae tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024788 human_phenotype owl:Class CHEBI:32440 biolink:NamedThing alaninium An alpha-amino-acid cation that is the conjugate acid of alanine. tmpxe7fu0cj_hp_relaxed.owl alanine cation|alaninium|1-carboxyethanaminium +1 C3H8NO2 InChI=1S/C3H7NO2/c1-2(4)3(5)6/h2H,4H2,1H3,(H,5,6)/p+1 QNAYBMKLOCPYGJ-UHFFFAOYSA-O 90.10116 90.05495 CC([NH3+])C(O)=O Gmelin:362663 chebi_ontology owl:Class HP:0030087 biolink:NamedThing Abnormal circulating testosterone concentration An anomalous concentration of testosterone in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal testosterone level|Abnormal serum testosterone level UMLS:C4022654|SNOMEDCT_US:166458009|UMLS:C0580454 HPO:skoehler owl:Class HP:0033607 biolink:NamedThing Bone marrow arrest at the promyelocytic stage A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 21:32:32+00:00 peter owl:Class HP:0033606 biolink:NamedThing Bone marrow maturation arrest Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl Hematopoietic maturation arrest|Haematopoietic maturation arrest 2021-01-30 21:26:37+00:00 peter owl:Class HP:0011353 biolink:NamedThing Arterial intimal fibrosis Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries. tmpxe7fu0cj_hp_relaxed.owl Intimal fibrosis UMLS:C4020753|UMLS:C4023403 peter 2012-03-01T01:05:59Z human_phenotype owl:Class HP:5000018 biolink:NamedThing Anti-ITPR1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1). tmpxe7fu0cj_hp_relaxed.owl Anti-inositol 1,4,5-trisphosphate receptor type 1 antibody ORCID:0000-0002-3387-1836 owl:Class CHEBI:15366 biolink:NamedThing acetic acid A simple monocarboxylic acid containing two carbons. tmpxe7fu0cj_hp_relaxed.owl acetic acid|AcOH|ethoic acid|Ethylic acid|CH3CO2H|ACETIC ACID|CH3-COOH|E260|HOAc|Acetic acid|Essigsaeure|acide acetique|INS No. 260|Ethanoic acid|E-260|E 260|MeCO2H|Methanecarboxylic acid|MeCOOH 0 C2H4O2 InChI=1S/C2H4O2/c1-2(3)4/h1H3,(H,3,4) QTBSBXVTEAMEQO-UHFFFAOYSA-N 60.05200 60.02113 CC(O)=O PMID:15107950|PMID:19416101|MetaCyc:ACET|PDBeChem:ACY|KEGG:C00033|PPDB:1333|PDBeChem:ACT|PMID:22173419|PMID:16630552|PMID:17190852|PMID:12005138|LIPID_MAPS_instance:LMFA01010002|PMID:19469536|HMDB:HMDB0000042|PMID:22153255|Gmelin:1380|KEGG:D00010|Beilstein:506007|PMID:16774200|CAS:64-19-7|Reaxys:506007|Drug_Central:4211|Wikipedia:Acetic_acid|KNApSAcK:C00001176 CHEBI:2387|CHEBI:22169|CHEBI:40486 chebi_ontology owl:Class GO:1904793 biolink:NamedThing regulation of euchromatin binding Any process that modulates the frequency, rate or extent of euchromatin binding. tmpxe7fu0cj_hp_relaxed.owl nc 2015-11-09T11:43:04Z biological_process owl:Class HP:0032311 biolink:NamedThing Increased circulating globulin level An abnormally elevated concentration of globulins in the blood. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 11:01:24+00:00 peter owl:Class PATO:0000619 biolink:NamedThing crowded A positional quality inhering in a bearer by virtue of the bearer's being overfilled. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:0007218 biolink:NamedThing neuropeptide signaling pathway The series of molecular signals generated as a consequence of a peptide neurotransmitter binding to a cell surface receptor. tmpxe7fu0cj_hp_relaxed.owl neuropeptide signalling pathway biological_process owl:Class HP:0006896 biolink:NamedThing Hypnopompic hallucinations Fleeting perceptual experiences that occur during the transition from sleep to wakefulness. tmpxe7fu0cj_hp_relaxed.owl MSH:D006212|SNOMEDCT_US:69690008|UMLS:C0424082 owl:Class HP:0001063 biolink:NamedThing Acrocyanosis Bluish discoloration of the skin of the hands or feet. tmpxe7fu0cj_hp_relaxed.owl Persistent blue colour of hands or feet|Persistent blue color of hands or feet SNOMEDCT_US:25003006|UMLS:C0221347 Cyanosis is caused by increased levels of deoxygenated hemoglobin. owl:Class HP:0034033 biolink:NamedThing Peripheral cyanosis Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved. tmpxe7fu0cj_hp_relaxed.owl 2021-09-24 13:36:17+00:00 peter owl:Class HP:0002123 biolink:NamedThing Generalized myoclonic seizure A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. tmpxe7fu0cj_hp_relaxed.owl Generalized epileptic myoclonus|Generalised myoclonic seizures|Generalized myoclonic seizures|Generalised myoclonic seizure|Generalised epileptic myoclonus|Myoclonus seizures|Myoclonic epilepsy, progressive SNOMEDCT_US:37356005|UMLS:C0014550|UMLS:C4021759|UMLS:C0751778|MSH:D004831|SNOMEDCT_US:267581004|MSH:D020191|SNOMEDCT_US:192992007 HP:0007075|HP:0006902|HP:0007202|HP:0007294|HP:0006869|HP:0007284 owl:Class UBERON:0035825 biolink:NamedThing left adrenal gland cortex The thick outer layer of the adrenal gland that is in the left side of the abdomen. tmpxe7fu0cj_hp_relaxed.owl cortex of left adrenal gland|cortex of left suprarenal gland|left adrenal cortex FMA:69089 uberon owl:Class HP:0033312 biolink:NamedThing Abnormal Bowman space morphology Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 13:07:36+00:00 Bowman's capsule is a part of the nephron that forms a cup-like sack surrounding the glomerulus. The capsule encloses a space called Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. Bowman's capsule, Bowman's space, and the glomerular capillary network and its supporting architecture can collectively be thought of as composing the glomerulus. peter owl:Class UBERON:0018643 biolink:NamedThing deciduous molar tooth 2 tmpxe7fu0cj_hp_relaxed.owl deciduous second molar tooth uberon owl:Class HP:0011778 biolink:NamedThing Thyroid atypical adenoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023191 peter 2012-04-22T06:02:26Z human_phenotype owl:Class HP:0009775 biolink:NamedThing Amniotic constriction ring Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands. tmpxe7fu0cj_hp_relaxed.owl Pseudoainhum|Amniotic bands|Amniotic constriction band UMLS:C1527388|MSH:C535821|SNOMEDCT_US:238879003|SNOMEDCT_US:19988008|MSH:D000652|UMLS:C0334166 Pseudoainhum is a rare condition of unknown etiology that produces digital constricting rings, most commonly on the small fingers. doelkens 2009-02-02T05:36:41Z HP:0001078 human_phenotype owl:Class HP:0100186 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the middle bone of the 4th toe UMLS:C4022235 doelkens 2010-06-24T04:54:13Z human_phenotype owl:Class HP:0001636 biolink:NamedThing Tetralogy of Fallot A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. tmpxe7fu0cj_hp_relaxed.owl Tetrology of fallot MSH:D013771|UMLS:C0039685|ICD-10:Q21.3|SNOMEDCT_US:86299006 human_phenotype owl:Class CHEBI:140601 biolink:NamedThing fatty acid 4:0 Any saturated fatty acid containing 4 carbons. tmpxe7fu0cj_hp_relaxed.owl 0 CHO2R 45.017 44.99765 *C(O)=O chebi_ontology owl:Class HP:0004695 biolink:NamedThing Calcaneal epiphyseal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861708 human_phenotype owl:Class GO:0060452 biolink:NamedThing positive regulation of cardiac muscle contraction Any process that increases the frequency, rate or extent of cardiac muscle contraction. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100126 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the innermost bone of the 2nd toe UMLS:C4022295 doelkens 2010-06-24T10:06:29Z human_phenotype owl:Class HP:0410229 biolink:NamedThing Increased anti-gluten IgE antibody level Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye. tmpxe7fu0cj_hp_relaxed.owl Increased level of anti-gluten IgE antibody 2018-10-03 21:29:41+00:00 owl:Class HP:0410227 biolink:NamedThing Increased anti-food allergen IgE antibody level Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish. tmpxe7fu0cj_hp_relaxed.owl Increased level of anti-food allergen IgE antibody 2018-10-03 21:27:03+00:00 owl:Class GO:0044272 biolink:NamedThing sulfur compound biosynthetic process The chemical reactions and pathways resulting in the formation of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. tmpxe7fu0cj_hp_relaxed.owl sulfur biosynthetic process|sulfur compound formation|sulfur compound biosynthesis|sulfur compound synthesis|sulfur biosynthesis|sulfur compound anabolism biological_process owl:Class HP:0025319 biolink:NamedThing Rubeosis iridis Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification. tmpxe7fu0cj_hp_relaxed.owl 2017-01-25 14:46:08+00:00 HPO:probinson owl:Class GO:0045766 biolink:NamedThing positive regulation of angiogenesis Any process that activates or increases angiogenesis. tmpxe7fu0cj_hp_relaxed.owl up regulation of angiogenesis|upregulation of angiogenesis|up-regulation of angiogenesis|stimulation of angiogenesis|activation of angiogenesis biological_process owl:Class HP:0410249 biolink:NamedThing Increased anti-alpha-gal IgE antibody level Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat. tmpxe7fu0cj_hp_relaxed.owl Increased anti-galactose-alpha-1, 3 galactose IgE antibody level 2018-10-15 17:54:02+00:00 owl:Class HP:0030547 biolink:NamedThing Unaided visual acuity 1.2 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073021 owl:Class PR:000016043 biolink:NamedThing T-cell acute lymphocytic leukemia protein 1 A protein that is a translation product of the human TAL1 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl T-cell leukemia/lymphoma protein 5|TAL1|stem cell protein|bHLHa17|TCL5|class A basic helix-loop-helix protein 17|BHLHA17|TAL-1|SCL Category=gene. Requested by=CL. protein owl:Class HP:0000311 biolink:NamedThing Round face The facial appearance is more circular than usual as viewed from the front. tmpxe7fu0cj_hp_relaxed.owl Round facial shape|Round facies|Round, full face|Round facial appearance|Round face|Circular face UMLS:C1856468|UMLS:C0239479 HP:0000304|HP:0004653 human_phenotype owl:Class GO:0120229 biolink:NamedThing protein localization to motile cilium A process in which a protein is transported to, or maintained in, a location within a motile cilium. tmpxe7fu0cj_hp_relaxed.owl protein localization to nonmotile primary cilium https://github.com/geneontology/go-ontology/issues/19588 krc 2020-06-05T23:43:04Z biological_process owl:Class HP:0003355 biolink:NamedThing Aminoaciduria An increased concentration of an amino acid in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine amino acid levels|Increased levels of animo acids in urine|Abnormal urinary amino-acid findings|Hyperaminoaciduria UMLS:C4020843|SNOMEDCT_US:35912001|UMLS:C0238621 HP:0200014|HP:0002903|HP:0008335 owl:Class UBERON:0006877 biolink:NamedThing vasculature of liver A vasculature that is part of a liver. tmpxe7fu0cj_hp_relaxed.owl hepatic vascular element|hepatic vasculature|liver vascular element|liver vascular system FMA:73748|EMAPA:35501|EHDAA2:0003454 uberon owl:Class the EHDAA2 term and the FMA term may not be exact equivalents - check HP:0012875 biolink:NamedThing Abnormal ejaculation Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2937350|SNOMEDCT_US:386674000 hecht 2014-06-09T11:21:29Z human_phenotype owl:Class CHEBI:25801 biolink:NamedThing oxoproline A pyrrolidinemonocarboxylic acid consisting of proline bearing a single oxo substituent. tmpxe7fu0cj_hp_relaxed.owl oxoproline 0 C5H7NO3 129.114 129.04259 chebi_ontology owl:Class GO:0071425 biolink:NamedThing hematopoietic stem cell proliferation The expansion of a hematopoietic stem cell population by cell division. A hematopoietic stem cell is a stem cell from which all cells of the lymphoid and myeloid lineages develop. tmpxe7fu0cj_hp_relaxed.owl hemopoietic stem cell proliferation mah 2009-12-16T10:22:52Z biological_process owl:Class CHEBI:73541 biolink:NamedThing organic heterobicyclic ring A bicyclic organic group that contains both carbon and hetero atoms. tmpxe7fu0cj_hp_relaxed.owl organic heterobicyclic rings chebi_ontology owl:Class CHEBI:52845 biolink:NamedThing cyclic organic group An organic group that consists of a closed ring. It may be a substituent or a skeleton. tmpxe7fu0cj_hp_relaxed.owl cyclic organic groups chebi_ontology owl:Class UBERON:0010678 biolink:NamedThing manual digit 4 phalanx cartilage element A cartilage element that is part of a manual digit 4 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl manual digit IV phalanx cartilage element|fore limb digit 4 phalanx cartilage condensation|hand digit 4 phalanx cartilage element EMAPA:18081 uberon owl:Class UBERON:0015028 biolink:NamedThing manual digit 4 phalanx endochondral element A manual digit 4 phalanx bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl manual digit 4 phalanx skeletal element|manual digit 4 phalanx element|manual digit IV phalanx endochondral element uberon owl:Class HP:0009288 biolink:NamedThing Curved proximal phalanx of the 4th finger tmpxe7fu0cj_hp_relaxed.owl Curved innermost ring finger bone UMLS:C4024467 doelkens 2009-01-08T03:46:28Z human_phenotype owl:Class HP:0009285 biolink:NamedThing Curved phalanges of the 4th finger Curved appearance of the phalanges of the 4th (ring) finger. tmpxe7fu0cj_hp_relaxed.owl Curved ring finger bone UMLS:C4024470 doelkens 2009-01-08T03:44:14Z human_phenotype owl:Class HP:0032125 biolink:NamedThing Increased proportion of unswitched memory B cells An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells. tmpxe7fu0cj_hp_relaxed.owl Increased proportion of non-class-switched memory B cells|Elevated proportion of unswitched memory B cells 2018-11-22 12:52:52+00:00 peter owl:Class HP:0009994 biolink:NamedThing Partial duplication of the distal phalanx of the 5th finger Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx. tmpxe7fu0cj_hp_relaxed.owl Bifid terminal phalanx of the 5th finger|Partial duplication of outermost little finger bone|Notched outermost pinky finger bone|Partial duplication of outermost pinky finger bone|Partial duplication of outermost pinkie finger bone UMLS:C4021350 doelkens 2009-05-26T02:24:47Z human_phenotype owl:Class UBERON:0003540 biolink:NamedThing right lung terminal bronchiole A terminal bronchiole that is part of a right lung [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl right lung bronchiolus terminalis|terminal bronchiole of right lung|bronchiolus terminalis of right lung EMAPA:36638|MA:0001789|NCIT:C49294|UMLS:C1709961 uberon owl:Class HP:0003724 biolink:NamedThing Shoulder girdle muscle atrophy Amyotrophy affecting the muscles of the shoulder girdle. tmpxe7fu0cj_hp_relaxed.owl Shoulder girdle atrophy|Shoulder-girdle muscle atrophy|Shoulder girdle muscle wasting UMLS:C1847766 human_phenotype owl:Class HP:0034032 biolink:NamedThing Central cyanosis Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin. tmpxe7fu0cj_hp_relaxed.owl 2021-09-24 13:34:46+00:00 peter owl:Class UBERON:0004440 biolink:NamedThing proximal epiphysis of proximal phalanx of manual digit 2 A proximal epiphysis that is part of a proximal phalanx of manual digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of proximal phalanx of second finger|proximal epiphysis of proximal phalanx of index finger|base of proximal phalanx of index finger|proximal epiphysis of proximal phalanx of manual digit II|base of proximal phalanx of second digit of hand FMA:37499 uberon owl:Class HP:0006362 biolink:NamedThing Varus deformity of humeral neck tmpxe7fu0cj_hp_relaxed.owl UMLS:C1854948 human_phenotype owl:Class HP:0002804 biolink:NamedThing Arthrogryposis multiplex congenita Multiple congenital contractures in different body areas. tmpxe7fu0cj_hp_relaxed.owl Arthrogryposis, congenital|Arthrogryposis|Arthrogryposis multiplex|Multiple congenital contractures SNOMEDCT_US:111246005|SNOMEDCT_US:77016009|MSH:D001176|UMLS:C0003886 Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature. HP:0002759|HP:0005188|HP:0005663|HP:0005859|HP:0001390|HP:0001389|HP:0005809 human_phenotype owl:Class HP:0001406 biolink:NamedThing Intrahepatic cholestasis Impairment of bile flow due to obstruction in the small bile ducts within the liver. tmpxe7fu0cj_hp_relaxed.owl Impaired release of bile from liver UMLS:C0008372|MSH:D002780|SNOMEDCT_US:4637005 human_phenotype owl:Class HP:0100832 biolink:NamedThing Vitreous floaters Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent. tmpxe7fu0cj_hp_relaxed.owl Vitreous opacities|Myodesopsia|Spots in front of eyes|Vitreous veils|Eye floaters|Vitreous debris|Mouches volantes|Myodeopsia|Vitreous condensations|Flitting flies SNOMEDCT_US:162278001|SNOMEDCT_US:420999000|UMLS:C0016242|UMLS:C1720491|SNOMEDCT_US:15013002 Vitreous floaters are described as vitreous condensations (or vitreous debris or vitreous opacities) as a finding upon ophthalmological examination. Floaters can take many forms from little dots, circles, lines, to clouds or cobwebs. The floaters are created by a shadow of the floating vitreal debris that is projected onto the retina, which is described as a veil. doelkens 2011-06-09T05:58:09Z human_phenotype owl:Class UBERON:0007302 biolink:NamedThing pectoral appendage vasculature A vasculature that is part of a pectoral appendage. tmpxe7fu0cj_hp_relaxed.owl pectoral fin vasculature ZFA:0005096|TAO:0005096 uberon owl:Class UBERON:0007304 biolink:NamedThing appendage vasculature A vasculature that is part of a limb/fin. tmpxe7fu0cj_hp_relaxed.owl fin vasculature TAO:0005095|ZFA:0005095 uberon owl:Class HP:0032479 biolink:NamedThing Preimplantation lethality It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development. tmpxe7fu0cj_hp_relaxed.owl Preimplantation embryonic lethality 2019-04-09 12:33:42+00:00 peter owl:Class HP:0000303 biolink:NamedThing Mandibular prognathia Abnormal prominence of the chin related to increased length of the mandible. tmpxe7fu0cj_hp_relaxed.owl Prognathism|Mandibular hyperplasia|Enlarged mandible|Prominent mandible|Hyperplasia of lower jaw|Big lower jaw|Mandible prognathism|Enlargement of mandible|Prominent jaw|Increased projection of mandible|Mandibular excess|Lower jaw excess|Hypertrophy of lower jaw|Macromandible|Hypertrophy of mandible|Increased size of lower jaw|Increased size of mandible|Relative mandibular prognathism|Mandibular macrognathia|Mandibular prognathism|Prognathia|Big mandible|Prominent lower jaw|Large lower jaw|Large mandible|Lower jaw hyperplasia|Prominent chin|Increased projection of lower jaw MSH:D008313|UMLS:C4280644|UMLS:C0302501|UMLS:C4280645|UMLS:C0399526|UMLS:C2227134|SNOMEDCT_US:22810007|SNOMEDCT_US:109504005 HP:0008514|HP:0000279|HP:0000251|HP:0000328|HP:0004656|HP:0004648|HP:0002051 human_phenotype owl:Class HP:0000694 biolink:NamedThing Odontodysplasia The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin. tmpxe7fu0cj_hp_relaxed.owl Teeth with dentinal dysplasia|Shell teeth|Ghost teeth|Teeth with thin dentin and large pulp chambers|Teeth with type iii dentinogenesis imperfecta SNOMEDCT_US:67504007|UMLS:C2981132 owl:Class UBERON:0006444 biolink:NamedThing annulus fibrosus A ring of fibrous or fibrocartilaginous tissue (as of an intervertebral disk or surrounding an orifice of the heart). tmpxe7fu0cj_hp_relaxed.owl anulus|fibrocartilaginous ring|fibrous ring|anulus fibrosus EMAPA:32670|FMA:76704|BTO:0003627 uberon owl:Class UBERON:0001995 biolink:NamedThing fibrocartilage Cartilage tissue intermediate between hyaline cartilage and dense connective tissue; contains of abundant collagen fibers; chondrocytes often arranged in columns. tmpxe7fu0cj_hp_relaxed.owl stratified cartilage tissue|fibrocartilage tissue galen:Fibrocartilage|NCIT:C32599|FMA:64784|MA:0000108|UMLS:C0684077|XAO:0004028|VSAO:0000103 The white fibrocartilages admit of arrangement into four groups-interarticular, connecting, circumferential, and stratiform -- WP. EDITOR NOTE: TODO add mineralized http://upload.wikimedia.org/wikipedia/commons/2/2e/Gray295.png uberon owl:Class Cartilage (tissue) which consists of chondrocytes and collagen, the intercellular matrix of which is an amorphous gel without a well-defined perichondrium[FMA:64784].|A mixture of white fibrous tissue and cartilaginous tissue in various proportions. It owes its flexibility and toughness to the former of these constituents, and its elasticity to the latter. It is the only type of cartilage that contains type I collagen in addition to the normal type I[Wikipedia:Fibrocartilage]I|Cartilage tissue intermediate between hyaline cartilage and dense connective tissue; contains of abundant collagen fibers; chondrocytes often arranged in columns.[VSAO] fibrocartilaginous HP:0045041 biolink:NamedThing Reduced lactate dehydrogenase B level A decreased or reduced level of the enzyme lactate dehydrogenase in serum. tmpxe7fu0cj_hp_relaxed.owl MSH:C563641|UMLS:C3279904 Lactate dehydrogenase catalyzes the interconversion of lactate and pyruvate. The B subunit of that enzyme is encoded by LDHB. owl:Class HP:0045040 biolink:NamedThing Abnormal lactate dehydrogenase level A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073168 owl:Class GO:0001578 biolink:NamedThing microtubule bundle formation A process that results in a parallel arrangement of microtubules. tmpxe7fu0cj_hp_relaxed.owl microtubule bundling biological_process owl:Class HP:0020141 biolink:NamedThing Blood pressure substantially higher in legs than arms An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. tmpxe7fu0cj_hp_relaxed.owl Blood pressure substantially higher in lower than upper extremities|Blood pressure substantially lower in upper than lower extremities|Blood pressure substantially lower in arms than legs This feature may be seen, for instance, in Takayasu arteritis. robinp 2019-07-05 17:52:19+00:00 owl:Class GO:0036093 biolink:NamedThing germ cell proliferation The multiplication or reproduction of germ cells, reproductive cells in multicellular organisms, resulting in the expansion of a cell population. tmpxe7fu0cj_hp_relaxed.owl bf 2012-01-17T04:06:27Z biological_process owl:Class HP:0030770 biolink:NamedThing Craniorachischisis A neural tube defect in which both the brain and spinal cord remain open to varying degrees. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:32219008|UMLS:C0152426|MSH:D009436 owl:Class UBERON:0003422 biolink:NamedThing mesenchyme of umbilical cord A gelatinous substance within the umbilical cord, largely made up of mucopolysaccharides (hyaluronic acid and chondroitin sulfate). It also contains some fibroblasts and macrophages. It is derived from Extra Embryonic Mesoderm[WP]. tmpxe7fu0cj_hp_relaxed.owl Wharton's jelly|umbilical cord mesenchyme EMAPA:35925|EMAPA:26127 TODO - check uberon owl:Class HP:0005726 biolink:NamedThing Thumbs hypoplastic with bulbous tips tmpxe7fu0cj_hp_relaxed.owl Short thumbs with bulbous tips UMLS:C4025146 human_phenotype owl:Class HP:0041050 biolink:NamedThing Renal tubular cyst Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. tmpxe7fu0cj_hp_relaxed.owl Renal tubule cyst owl:Class HP:0032836 biolink:NamedThing Neonatal bilateral symmetric myoclonic seizure Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0061626 biolink:NamedThing pharyngeal arch artery morphogenesis The process in which the anatomical structures of a pharyngeal arch artery is generated and organized. The pharyngeal arch arteries are a series of six paired embryological vascular structures, the development of which give rise to several major arteries, such as the stapedial artery, the middle meningeal artery, the internal carotid artery and the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl aortic arch artery morphogenesis dph 2014-05-09T15:34:06Z biological_process owl:Class HP:0002636 biolink:NamedThing Dilatation of an abdominal artery Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta. tmpxe7fu0cj_hp_relaxed.owl Aneurysm of an abdominal artery UMLS:C4025694 Aneurysm is considered a severe form of dilatation. owl:Class UBERON:0000106 biolink:NamedThing zygote stage A stage at which the organism is a single cell produced by means of sexual reproduction. tmpxe7fu0cj_hp_relaxed.owl fertilized egg stage|zygotum|zygote|one-cell stage|1-cell stage|one cell stage PdumDv:0000100|XAO:1000001|ZFS:0000001|VHOG:0000745|NCIT:C12601|EFO:0001322|Wikipedia:Zygote|BILS:0000106|EHDAA:27|BilaDO:0000005|FBdv:00005288 uberon owl:Class As in all metazoans, eumetazoan development begins with a fertilized egg, or zygote.[well established][VHOG] GO:0030308 biolink:NamedThing negative regulation of cell growth Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. tmpxe7fu0cj_hp_relaxed.owl down-regulation of cell growth|downregulation of cell growth|inhibition of cell growth|down regulation of cell growth biological_process owl:Class HP:0002419 biolink:NamedThing Molar tooth sign on MRI An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. tmpxe7fu0cj_hp_relaxed.owl 'molar tooth' sign on imaging|Molar tooth sign|'molar tooth sign' on brain imaging' UMLS:C1865060 Molar tooth appearance results from a lack of normal decussation of superior cerebellar peduncular fiber tracts which in turn leads to enlargement of the peduncles, which also follow a more horizontal course. The absence of crossing fibers also leads to a reduction in the anteroposterior diameter of the midbrain and deepening of the interpeduncular cistern. human_phenotype owl:Class HP:0041092 biolink:NamedThing Emotional hypersensitivity Heightened emotional reactivity to environmental stimuli, including emotions of others. tmpxe7fu0cj_hp_relaxed.owl Overly sensitive|Highly sensitive|Hypersensitivity owl:Class HP:0005659 biolink:NamedThing Thoracic kyphoscoliosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4015465 human_phenotype owl:Class PR:000001005 biolink:NamedThing integrin alpha with A domain An integrin alpha that contains an A domain. A hallmark of this class is the presence of a von Willebrand factor type A domain (Pfam:PF00092) (I-domain) of approximately 200 amino acid residues at the N terminus, which confers divalent cation binding properties. Unlike other integrin alpha proteins, they do not undergo proteolytic cleavage. tmpxe7fu0cj_hp_relaxed.owl integrin alpha with I domain PIRSF:PIRSF002497 Category=family. protein owl:Class GO:0033240 biolink:NamedThing positive regulation of cellular amine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amines. tmpxe7fu0cj_hp_relaxed.owl positive regulation of amine metabolism biological_process owl:Class UBERON:0002805 biolink:NamedThing right limbic lobe A limbic lobe that is part of a right cerebral hemisphere. tmpxe7fu0cj_hp_relaxed.owl FMA:72980|BIRNLEX:1781 uberon owl:Class HP:0030082 biolink:NamedThing Abnormal drinking behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. tmpxe7fu0cj_hp_relaxed.owl Abnormal drinking behavior|Abnormal drinking behaviour UMLS:C4022657 Note that this HPO term refers to an abnormal habit of drinking fluids but does not directly refer to an psychological disorder. owl:Class HP:0009293 biolink:NamedThing Broad middle phalanx of the 4th finger Increased width of the middle phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Broad middle bone of the 4th finger UMLS:C4024463 doelkens 2009-01-08T04:59:22Z human_phenotype owl:Class UBERON:0005629 biolink:NamedThing vascular plexus A vascular network formed by frequent anastomoses between the blood vessels (arteries or veins) of a part. tmpxe7fu0cj_hp_relaxed.owl plexus vasculosus EHDAA2:0004112|EMAPA:35904|AEO:0000219|XAO:0004143|FMA:5900 uberon owl:Class In a vascular plexus, the contents of the vessels mix. A plexus allows blood to flow via multiple routes. If one branch of the plexus is obstructed, the blood may flow via the open branches[Wikipedia:Plexus#Circulatory_system]. HP:0012138 biolink:NamedThing Granulocytic hyperplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023028 peter 2012-09-16T08:09:36Z human_phenotype owl:Class GO:0032332 biolink:NamedThing positive regulation of chondrocyte differentiation Any process that activates or increases the frequency, rate or extent of chondrocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl stimulation of chondrocyte differentiation|upregulation of chondrocyte differentiation|activation of chondrocyte differentiation|up-regulation of chondrocyte differentiation|up regulation of chondrocyte differentiation biological_process owl:Class HP:0010430 biolink:NamedThing Aplasia of the phalanges of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Absent 2nd toe bones UMLS:C4023829 doelkens 2009-07-16T04:27:29Z HP:0100361 human_phenotype owl:Class UBERON:0004863 biolink:NamedThing thoracic sympathetic nerve trunk A sympathetic nerve trunk that is part of a thorax [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl sympathetic nervous system nerve trunk of thorax|thoracic sympathetic chain|thorax nerve trunk of sympathetic nervous system|nerve trunk of sympathetic part of autonomic division of nervous system of thorax|thoracic part of sympathetic trunk|thoracic sympathetic trunk|nerve trunk of sympathetic nervous system of thorax|thorax nerve trunk of sympathetic part of autonomic division of nervous system|sympathetic nerve trunk of thorax|thorax sympathetic nerve trunk|thorax sympathetic nervous system nerve trunk EMAPA:37657|MA:0001165|FMA:6262|UMLS:C1710393|NCIT:C52827 uberon owl:Class CL:0002166 biolink:NamedThing epithelial cell of Malassez An epithelial cell that remains from the disintegration of the epithelial root sheath involved in the development of teeth. tmpxe7fu0cj_hp_relaxed.owl epithelial debris of Malassez|epithelial cell rests of Malassez FMA:62987 tmeehan 2010-08-26T08:51:27Z cell owl:Class HP:0030573 biolink:NamedThing Pinhole visual acuity 0.5 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073046 owl:Class UBERON:0012073 biolink:NamedThing tooth of palatine bone A tooth that is attached to a palatine bone. tmpxe7fu0cj_hp_relaxed.owl palatine tooth|palatine teeth uberon owl:Class Teeth present in some fishes on the palatine bones, bones that lie inside the upper jaw bones (sometimes maxillaries, sometimes premaxillaries) usually behind the vomerine tooth patch. CHEBI:28940 biolink:NamedThing calciol A hydroxy seco-steroid that is (5Z,7E)-9,10-secocholesta-5,7,10(19)-triene in which the pro-S hydrogen at position 3 has been replaced by a hydroxy group. It is the inactive form of vitamin D3, being hydroxylated in the liver to calcidiol (25-hydroxyvitamin D3), which is then further hydroxylated in the kidney to give calcitriol (1,25-dihydroxyvitamin D3), the active hormone. tmpxe7fu0cj_hp_relaxed.owl calciol|(3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol|(3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol|Vitamin D3|(1S,3Z)-3-[(2E)-2-[(1R,3AR,7AS)-7A-METHYL-1-[(2R)-6-METHYLHEPTAN-2-YL]-2,3,3A,5,6,7-HEXAHYDRO-1H-INDEN-4-YLIDENE]ETHYLIDENE]-4-METHYLIDENE-CYCLOHEXAN-1-OL|Delta-D|colecalciferol|(5Z,7E)-(3S)-9,10-secocholesta-5,7,10(19)-trien-3-ol|activated 7-dehydrocholesterol|(+)-vitamin D3|oleovitamin D3|CC|Cholecalciferol|vitamin D3 0 C27H44O InChI=1S/C27H44O/c1-19(2)8-6-9-21(4)25-15-16-26-22(10-7-17-27(25,26)5)12-13-23-18-24(28)14-11-20(23)3/h12-13,19,21,24-26,28H,3,6-11,14-18H2,1-2,4-5H3/b22-12+,23-13-/t21-,24+,25-,26+,27-/m1/s1 QYSXJUFSXHHAJI-YRZJJWOYSA-N 384.63766 384.33922 [H][C@@]1(CC[C@]2([H])[C@]1(C)CCC\C2=C/C=C1/C[C@@H](O)CCC1=C)[C@H](C)CCCC(C)C PMID:10347174|Drug_Central:2840|PMID:11493580|DrugBank:DB00169|PDBeChem:VD3|PMID:17156784|KEGG:C05443|PMID:184223|CAS:67-97-0|PMID:15876428|PMID:23964472|PMID:9627702|Beilstein:2339331|PMID:15214747|PMID:24304198|PMID:6265326|PMID:2838261|LIPID_MAPS_instance:LMST03020000|PMID:16886665|PPDB:160|Reaxys:2339331|LIPID_MAPS_instance:LMST03020001|PMID:12955389|Wikipedia:Cholecalciferol|Gmelin:1267613|HMDB:HMDB0000876|PMID:19817701|PMID:2997282|PMID:12174089|PMID:3494111|KEGG:D00188 CHEBI:23170|CHEBI:10008|CHEBI:46283 chebi_ontology owl:Class HGNC:4191 biolink:NamedThing GCG (human) A protein coding gene GCG in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class HP:0006450 biolink:NamedThing Multicentric ossification of proximal femoral epiphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857193 human_phenotype owl:Class HP:0031711 biolink:NamedThing Asymmetric abdominal aortic aneurysm An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric). tmpxe7fu0cj_hp_relaxed.owl 2017-12-22 11:19:37+00:00 Abdominal aortic aneurysms (AAAs) in an advanced stage of development are truly asymmetric, due to the presence of tissue surrounding the abdominal aorta and to the vertebral column located posterior to this artery segment. This makes a large AAA less fusiform and to grow apart from the centerline of the lumen, accounting for a major anterior dilation and a more flat posterior surface. peter owl:Class UBERON:0011969 biolink:NamedThing mesotarsal joint An ankle joint that passes between the proximal and distal tarsals. tmpxe7fu0cj_hp_relaxed.owl Calcaneus and astragalus are interlocked, line of flexion is distal to them[Kardong] uberon owl:Class UBERON:0005694 biolink:NamedThing manual digit 4 mesenchyme Mesenchyme that is part of a developing manual digit 4. tmpxe7fu0cj_hp_relaxed.owl fore limb digit 4 mesenchyme|hand digit 4 mesenchyme|manual digit IV mesenchyme EMAPA:17440|EHDAA2:0000531 uberon owl:Class HP:0011120 biolink:NamedThing Concave nasal ridge Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. tmpxe7fu0cj_hp_relaxed.owl Saddle nose deformity|Boxer's nasal deformity|Boxer's nose deformity|Concave nasal dorsum|Saddle nose|Ski jump nose|Saddle shaped nasal dorsum|Concave dorsum of nose SNOMEDCT_US:710234009|UMLS:C0264169 A saddle-nose deformity can be congenital or acquired (e.g., traumatic) and is associated with structural compromise of the nasoseptal cartilage leading to decreased dorsal nasal structural support. A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum. peter 2011-06-12T09:39:55Z human_phenotype owl:Class HP:0011119 biolink:NamedThing Abnormality of the nasal dorsum An abnormality of the nasal dorsum, also known as the nasal ridge. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the dorsum of nose|Crooked dorsum of nose|Deformity of the nasal ridge|Anomaly of the nasal ridge|Abnormal morphology of dorsum of nose|Crooked nasal ridge|Malformation of the nasal dorsum|Deformity of the dorsum of the nose|Abnormality of the nasal ridge|Malformation of the nasal ridge|Deformity of the nasal dorsum|Malformation of the dorsum of nose|Crooked nasal dorsum UMLS:C4280332|UMLS:C4021202 The nasal ridge is the midline prominence of the nose, extending from the nasal root to the tip. peter 2011-06-12T09:37:47Z human_phenotype owl:Class HP:0040129 biolink:NamedThing Abnormal nerve conduction velocity tmpxe7fu0cj_hp_relaxed.owl Nerve conduction abnormalities|Abnormal nerve conduction velocities|Abnormal nerve conduction UMLS:C1866772 HPO:skoehler owl:Class HP:0010715 biolink:NamedThing 2-5 toe syndactyly Syndactyly with fusion of toes two to five. tmpxe7fu0cj_hp_relaxed.owl Webbed 2nd-5th toes UMLS:C4023724 sdoelken 2010-03-26T05:22:26Z owl:Class HP:0001423 biolink:NamedThing X-linked dominant inheritance A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. tmpxe7fu0cj_hp_relaxed.owl X-linked dominant UMLS:C1847879 human_phenotype owl:Class CHEBI:84690 biolink:NamedThing alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer(d18:1/18:0) A glycotriaosylceramide having alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl as the glycotriaosyl component attached to the Cer(d18:1/18:0). tmpxe7fu0cj_hp_relaxed.owl Gb3(d18:1/18:0)|N-[(2S,3R,4E)-1-{[alpha-D-galactopyranosyl-(1->4)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl]oxy}-3-hydroxyoctadec-4-en-2-yl]octadecanamide 0 C54H101NO18 InChI=1S/C54H101NO18/c1-3-5-7-9-11-13-15-17-18-20-22-24-26-28-30-32-42(60)55-37(38(59)31-29-27-25-23-21-19-16-14-12-10-8-6-4-2)36-68-52-48(66)45(63)50(40(34-57)70-52)73-54-49(67)46(64)51(41(35-58)71-54)72-53-47(65)44(62)43(61)39(33-56)69-53/h29,31,37-41,43-54,56-59,61-67H,3-28,30,32-36H2,1-2H3,(H,55,60)/b31-29+/t37-,38+,39+,40+,41+,43-,44-,45+,46+,47+,48+,49+,50+,51-,52+,53+,54-/m0/s1 KWGVNZWSEWAOMI-DHCJWVHISA-N 1052.37560 1051.70187 CCCCCCCCCCCCCCCCCC(=O)N[C@@H](CO[C@@H]1O[C@H](CO)[C@@H](O[C@@H]2O[C@H](CO)[C@H](O[C@H]3O[C@H](CO)[C@H](O)[C@H](O)[C@H]3O)[C@H](O)[C@H]2O)[C@H](O)[C@H]1O)[C@H](O)\C=C\CCCCCCCCCCCCC LIPID_MAPS_instance:LMSP0502AA02 chebi_ontology owl:Class CHEBI:36508 biolink:NamedThing glycotriaosylceramide tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0010110 biolink:NamedThing Aplasia of the phalanges of the hallux tmpxe7fu0cj_hp_relaxed.owl Absent bone of big toe UMLS:C4024046 doelkens 2009-05-29T12:49:19Z human_phenotype owl:Class HP:0031088 biolink:NamedThing Vaginal dryness Persistent vaginal dryness. tmpxe7fu0cj_hp_relaxed.owl 2017-05-29 00:50:43+00:00 peter owl:Class HP:0010523 biolink:NamedThing Alexia An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read. tmpxe7fu0cj_hp_relaxed.owl Word blindness|Text blindness MSH:D004410|UMLS:C0002018|SNOMEDCT_US:9236007 Note that dyslexia refers to a developmental reading disability, whereas alexi arefers to an acquired reading disability related to damage to the brain in an individual in whom reading ability had previously been developed. peter 2009-09-20T11:27:07Z human_phenotype owl:Class HP:0002863 biolink:NamedThing Myelodysplasia Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. tmpxe7fu0cj_hp_relaxed.owl Myelodysplastic syndrome|Hypoplastic myelodysplasia UMLS:C3463824|SNOMEDCT_US:188736006|MSH:D009190|SNOMEDCT_US:109995007|UMLS:C1851971|SNOMEDCT_US:128623006 HP:0004832|HP:0006730 human_phenotype owl:Class HP:0031955 biolink:NamedThing Antalgic gait To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position. tmpxe7fu0cj_hp_relaxed.owl Limp 2018-07-07 13:50:24+00:00 peter owl:Class HP:0006956 biolink:NamedThing Dilation of lateral ventricles tmpxe7fu0cj_hp_relaxed.owl Enlarged lateral ventricles|Dilatation of lateral cerebral ventricles|Lateral ventricle dilatation UMLS:C1856409 HP:0006796|HP:0007173|HP:0006945 owl:Class UBERON:0034766 biolink:NamedThing glabella region A region of the forehead corresponding to the space between the eyebrows and above the nose. tmpxe7fu0cj_hp_relaxed.owl glabella uberon owl:Class HP:0008946 biolink:NamedThing Pelvic girdle amyotrophy Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle. tmpxe7fu0cj_hp_relaxed.owl Hip girdle amyotrophy UMLS:C4021528 human_phenotype owl:Class CL:0008034 biolink:NamedThing mural cell Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation. tmpxe7fu0cj_hp_relaxed.owl dos 2020-02-29 17:33:55+00:00|2020-02-29T17:33:55Z owl:Class HP:0020169 biolink:NamedThing Abnormal drug response An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-06 21:39:59+00:00 owl:Class HP:0000476 biolink:NamedThing Cystic hygroma A cystic lymphatic lesion of the neck. tmpxe7fu0cj_hp_relaxed.owl Cystic hygroma of the neck SNOMEDCT_US:423984004|SNOMEDCT_US:399882002|UMLS:C0206620|MSH:D018191|NCIT:C8965|SNOMEDCT_US:40225001 Cystic hygroma refers to a cystic lymphatic lesion, that can in principle occur anywhere in the body, but is most commonly seen in the head and neck region. The term 'Cystic hygroma' alone is generally used to refer to cystic hygroma of the neck. owl:Class HP:0001561 biolink:NamedThing Polyhydramnios The presence of excess amniotic fluid in the uterus during pregnancy. tmpxe7fu0cj_hp_relaxed.owl Hydramnios|High levels of amniotic fluid SNOMEDCT_US:86203003|UMLS:C0020224|MSH:D006831 Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age. HP:0005098 owl:Class HP:0033202 biolink:NamedThing Brachioradialis hyporeflexia Reduced intensity of the brachioradialis tendon reflex. tmpxe7fu0cj_hp_relaxed.owl 2020-10-11 14:26:08+00:00 The brachioradialis reflex is a deep tendon reflex involving the C5 and C6 nerve roots through its innervation by the radial nerve. To test brachioradialis reflex, the forearm is supported in a slightly pronated position. Then, the physician delivers a series of quick hits with the reflex hammer to the area of the styloid process of the radius at the point of brachioradialis insertion. peter owl:Class UBERON:0003960 biolink:NamedThing styloid process of temporal bone Slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments. tmpxe7fu0cj_hp_relaxed.owl processus styloideus ossis temporalis|processus styloideus|styloid process|styloid process of petrous part of temporal bone|temporal styloid process FMA:52877|EMAPA:36320 Disease notes: Eagle's syndrome http://upload.wikimedia.org/wikipedia/commons/9/96/Gray137.png uberon owl:Class HP:0004295 biolink:NamedThing Abnormal gastric mucosa morphology An abnormality of the gastric mucous membrane. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the mucous membrane layer of stomach|Abnormality of the gastric mucosa UMLS:C4025362 peter 2008-02-20T11:12:00Z owl:Class GO:0051648 biolink:NamedThing vesicle localization Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location. tmpxe7fu0cj_hp_relaxed.owl vesicle localisation|establishment and maintenance of vesicle localization|cytoplasmic vesicle localization biological_process owl:Class UBERON:0018613 biolink:NamedThing secondary upper tooth tmpxe7fu0cj_hp_relaxed.owl permanent upper tooth uberon owl:Class GO:1905319 biolink:NamedThing mesenchymal stem cell migration The orderly movement of a mesenchymal stem cell from one site to another. tmpxe7fu0cj_hp_relaxed.owl sl 2016-07-14T17:13:02Z biological_process owl:Class GO:0140236 biolink:NamedThing translation at presynapse Translation that occurs at the presynapse. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/synapse/issues/216 Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua. pg 2018-07-13T13:00:33Z biological_process owl:Class HP:0002695 biolink:NamedThing Symmetrical, oval parietal bone defects tmpxe7fu0cj_hp_relaxed.owl Symmetrical, oval defects in the parietal bone UMLS:C1865045 human_phenotype owl:Class HP:0033510 biolink:NamedThing Cutaneous horn A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin. tmpxe7fu0cj_hp_relaxed.owl Cornu cutaneum 2021-01-13 12:03:16+00:00 peter owl:Class HP:0033619 biolink:NamedThing Typical perifissural nodule A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical). tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 22:37:54+00:00 peter owl:Class HP:0033613 biolink:NamedThing Perifissural pulmonary nodule Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 22:28:48+00:00 peter owl:Class UBERON:0012278 biolink:NamedThing gland of nasal mucosa The nasal glands are the seromucous glands in the respiratory region of the nasal mucous membrane. The three major types of nasal glands are anterior serous glands, seromucous glands, and Bowman glands. tmpxe7fu0cj_hp_relaxed.owl glandula nasalis|nasal gland|glandulae nasales FMA:321518|UMLS:C1522269|NCIT:C22725|EMAPA:37871 uberon owl:Class HP:0000105 biolink:NamedThing Enlarged kidney An abnormal increase in the size of the kidney. tmpxe7fu0cj_hp_relaxed.owl Large kidneys|Renal enlargement|Nephromegaly|Enlarged kidney|Large kidney UMLS:C0542518|SNOMEDCT_US:300444006 The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilm's tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography. human_phenotype owl:Class UBERON:0005039 biolink:NamedThing mucosa of bronchiole A mucosa that is part of a bronchiole [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bronchiole organ mucosa|lobular bronchiole organ mucosa|mucous membrane of lobular bronchiole|organ mucosa of bronchiole|mucosa of lobular bronchiole|bronchiole mucosa|lobular bronchiole mucosa of organ|lobular bronchiole mucosa|organ mucosa of lobular bronchiole|mucosa of organ of lobular bronchiole|lobular bronchiole mucous membrane|mucous membrane of bronchiole|mucosa of organ of bronchiole|bronchiole mucosa of organ|bronchiole mucous membrane FMA:62774|FMA:263230 uberon owl:Class UBERON:0001303 biolink:NamedThing left uterine tube A fallopian tube that is part of a left side of organism [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl left fallopian tube|left oviduct FMA:18484|UMLS:C0227902|NCIT:C32959|MA:0001716|EMAPA:37368 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern HP:0100241 biolink:NamedThing Ectopic respiratory mucosa Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022182 Ectopic respiratory mucosa is a very rare finding and has been associated with unilateral skeletal malformation, most commonly with preaxial polydactyly which may be mirror-image like. doelkens 2010-06-29T11:18:12Z human_phenotype owl:Class PATO:0000499 biolink:NamedThing decreased duration A duration quality of a process which is relatively low. tmpxe7fu0cj_hp_relaxed.owl decreased period|decreased time|low period|fast time|shortened period PATO:0000716 quality owl:Class CHEBI:30356 biolink:NamedThing isobutyl group tmpxe7fu0cj_hp_relaxed.owl iBu|2-methylpropyl|(CH3)2CH-CH2-|2-methylpropan-1-ido|leucine side-chain|-CH2-CH(CH3)2|isobutyl 0 C4H9 57.11426 57.07043 CC(C)C* chebi_ontology owl:Class HP:0004964 biolink:NamedThing Pulmonary arterial medial hypertrophy Increase in mass of the tunica media of the arteries in the pulmonary circulation. tmpxe7fu0cj_hp_relaxed.owl Hypertrophy of the pulmonary artery wall UMLS:C1504382 HP:0004939 human_phenotype owl:Class UBERON:0000210 biolink:NamedThing tetrapod parietal bone In humans: bone forming side and roof of cranium. Each bone is irregularly quadrilateral in form, and has two surfaces, four borders, and four angles. tmpxe7fu0cj_hp_relaxed.owl parietal bone|parietal|os parietale|frontal bone|actinopterygian frontal bone GAID:229|NCIT:C12766|MESH:D010294|UMLS:C0030558|VHOG:0001326|FMA:9613|MA:0001469|VHOG:0001324|EMAPA:18715|AAO:0000390 http://upload.wikimedia.org/wikipedia/commons/2/21/Gray132.png uberon owl:Class The homologization of cranial bones of actinopterygians with those of sarcopterygians based on the bone names established in human anatomy is favored in order to permit the building of phylogenetic relationship schemes beyond the taxonomic boundaries of osteichthyans (including tetrapods). (...) In actinopterygians, the terms parietal and postparietal bones have to replace the commonly used terms 'frontal' and 'parietal' bones for the two paired bones on the skull roof.[well established][VHOG] The frontal bone in teleost fish is the homolog of the parietal bone in tetrapods[various]. In many non-mammalian tetrapods, they are bordered to the rear by a pair of postparietal bones that may be solely in the roof of the skull, or slope downwards to contribute to the back of the skull, depending on the species. In the living tuatara, and many fossil species, a small opening, the parietal foramen, lies between the two parietal bones. This opening is the location of a third eye in the midline of the skull, which is much smaller than the two main eyes HP:0009780 biolink:NamedThing Iliac horns Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0263925|SNOMEDCT_US:84308008 peter 2009-02-03T04:48:00Z human_phenotype owl:Class HP:0003796 biolink:NamedThing Irregular iliac crest Irregularity of the iliac crest, which is the superior border of the wing of the ilium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855180 human_phenotype owl:Class HP:0003449 biolink:NamedThing Cold-induced muscle cramps Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861675 human_phenotype owl:Class HP:0100123 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the innermost bone of the 2nd toe UMLS:C4022298 doelkens 2010-06-24T10:06:29Z human_phenotype owl:Class HP:0011883 biolink:NamedThing Abnormal platelet granules An anomaly of alpha or dense granules or platelet lysosomes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023146 Platelets contain two classes of granule: the alpha granules and the dense granules. During platelet activation, the contents of the granules are discharged into the lumen of the open canalicular system, from which they are then released to the extracellular space. peter 2012-06-02T09:47:57Z human_phenotype owl:Class HP:0003232 biolink:NamedThing Mitochondrial malic enzyme reduced tmpxe7fu0cj_hp_relaxed.owl Decreased mitochondrial malic enzyme UMLS:C1856697 human_phenotype owl:Class HP:0003392 biolink:NamedThing First dorsal interossei muscle weakness tmpxe7fu0cj_hp_relaxed.owl UMLS:C1832277 human_phenotype owl:Class HP:0025638 biolink:NamedThing Elevated urinary N-butyrylglycine An increased level of N-butyrylglycine in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-04-26 18:06:25+00:00 Butyrylglycine is a N-acylglycine obtained by formal condensation of the carboxy group of butyric acid with the amino group of glycine. Its urinary excretion is increased in certain inborn errors of metabolism. HPO:probinson owl:Class HP:0012734 biolink:NamedThing Ketotic hypoglycemia Low blood glucose is accompanied by elevated levels of ketone bodies in the body. tmpxe7fu0cj_hp_relaxed.owl Ketotic low blood sugar SNOMEDCT_US:20825002|UMLS:C0271713 peter 2014-03-23T03:00:50Z human_phenotype owl:Class HP:0031871 biolink:NamedThing Abnormal Langerhans cell morphology Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis. tmpxe7fu0cj_hp_relaxed.owl 2018-05-06 13:33:50+00:00 peter owl:Class PATO:0000004 biolink:NamedThing mobility A quality of inhering in a bearer by virtue of the bearer's disposition to move freely. tmpxe7fu0cj_hp_relaxed.owl Should be defined using translocation. quality owl:Class HP:0005096 biolink:NamedThing Distal femoral bowing A bending or abnormal curvature of the distal portion of the femur. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1860107 human_phenotype owl:Class PATO:0001854 biolink:NamedThing vertical A spatial pattern inhering in a bearer by virtue of the bearer's being situated at right angles to the horizon. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0009197 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 5th finger An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the innermost bone of the pinky finger|Bracket shaped end part of the innermost bone of the pinkie finger|Bracket shaped end part of the innermost bone of the little finger UMLS:C4024542 doelkens 2009-01-05T05:05:01Z human_phenotype owl:Class HP:0041193 biolink:NamedThing Fractured epiphysis of first metatarsal bone A partial or complete breakage of the epiphysis of first metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl bone epiphysis of first metatarsal bone owl:Class CHEBI:27207 biolink:NamedThing univalent carboacyl group A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid. tmpxe7fu0cj_hp_relaxed.owl univalent carboxylic acyl groups|univalent acyl group|univalent carboacyl groups chebi_ontology owl:Class HP:0030181 biolink:NamedThing Gordon reflex Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe). tmpxe7fu0cj_hp_relaxed.owl Gordon sign UMLS:C4021048 Gordon's reflex indicates a lesion of the pyramidal tract. owl:Class UBERON:0013753 biolink:NamedThing distal epiphysis of metacarpal bone A distal epiphysis that is part of a metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl distal end of metacarpal bone|lower end of metacarpal bone|head of metacarpal bone|caput ossis metacarpi FMA:33798 uberon owl:Class HP:0005346 biolink:NamedThing Abnormal facial expression tmpxe7fu0cj_hp_relaxed.owl Abnormal facial expression UMLS:C4025209 peter 2008-03-26T06:44:00Z human_phenotype owl:Class HP:0008749 biolink:NamedThing Laryngeal hypoplasia Underdevelopment of the larynx. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic larynx SNOMEDCT_US:253736003|UMLS:C0431527 HP:0005935 human_phenotype owl:Class HP:0011486 biolink:NamedThing Abnormality of corneal thickness An abnormal anteroposterior thickness of the cornea. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023333 peter 2012-04-02T10:15:01Z human_phenotype owl:Class HP:0001890 biolink:NamedThing Autoimmune hemolytic anemia An autoimmune form of hemolytic anemia. tmpxe7fu0cj_hp_relaxed.owl Autoimmune hemolytic anaemia|Autoimmune haemolytic anaemia|Hemolytic anemia, autoimmune SNOMEDCT_US:413603009|MSH:D000744|UMLS:C0002880 owl:Class GO:0032891 biolink:NamedThing negative regulation of organic acid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl inhibition of organic acid transport|downregulation of organic acid transport|down-regulation of organic acid transport|down regulation of organic acid transport biological_process owl:Class UBERON:0004939 biolink:NamedThing submucosa of common bile duct A submucosa that is part of a common bile duct [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl ductus choledochus (biliaris) submucosa|common bile duct submucosa|common bile ductal submucosa|submucosa of ductus choledochus (biliaris) FMA:18011 uberon owl:Class HP:0005100 biolink:NamedThing Premature birth following premature rupture of fetal membranes tmpxe7fu0cj_hp_relaxed.owl Premature birth following premature rupture of foetal membranes UMLS:C1851833 human_phenotype owl:Class UBERON:0000326 biolink:NamedThing pancreatic juice Pancreatic juice is slightly alkaline and contains numerous enzymes and inactive enzyme precursors including alpha-amylase, chymotrypsinogen, lipase, procarboxypeptidase, proelastase, prophospholipase A2, ribonuclease, and trypsinogen. Its high concentration of bicarbonate ions helps to neutralize the acid from the stomach. tmpxe7fu0cj_hp_relaxed.owl pancreatic fluid|pancreatic secretion|succus pancreaticus GAID:1166|FMA:62973|MESH:D010189|BTO:0000504|CALOHA:TS-2235 uberon owl:Class HP:0009822 biolink:NamedThing Aplasia involving forearm bones tmpxe7fu0cj_hp_relaxed.owl Absent forearm bones UMLS:C4024195 doelkens 2009-02-23T05:12:10Z human_phenotype owl:Class GO:0072201 biolink:NamedThing negative regulation of mesenchymal cell proliferation Any process that decreases the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. tmpxe7fu0cj_hp_relaxed.owl mah 2010-03-01T03:43:29Z biological_process owl:Class HP:0009454 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 3rd finger Uneven (irregular) increase in bone density of the proximal phalanx of the third finger. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the innermost bone of the middle finger UMLS:C4024351 doelkens 2009-01-14T04:33:41Z human_phenotype owl:Class GO:1904410 biolink:NamedThing negative regulation of secretory granule organization Any process that stops, prevents or reduces the frequency, rate or extent of secretory granule organization. tmpxe7fu0cj_hp_relaxed.owl downregulation of secretory granule organisation|inhibition of secretory granule organisation|down regulation of secretory granule organisation|down regulation of secretory granule organization|down-regulation of secretory granule organization and biogenesis|down-regulation of secretory granule organisation|inhibition of secretory granule organization and biogenesis|downregulation of secretory granule organization and biogenesis|down regulation of secretory granule organization and biogenesis|inhibition of secretory granule organization|down-regulation of secretory granule organization|downregulation of secretory granule organization|negative regulation of secretory granule organization and biogenesis|negative regulation of secretory granule organisation sl 2015-06-25T19:40:49Z biological_process owl:Class UBERON:0011197 biolink:NamedThing parathyroid epithelium An epithelium that is part of a parathyroid gland. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1709466|CALOHA:TS-2141|NCIT:C48258 uberon owl:Class GO:0036035 biolink:NamedThing osteoclast development The process whose specific outcome is the progression of a osteoclast from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. tmpxe7fu0cj_hp_relaxed.owl osteoclast cell development bf 2011-11-02T05:20:35Z biological_process owl:Class MPATH:28 biolink:NamedThing atherosclerosis Characterised by irregular lipid deposits in the wall of arteries, causing narrowing of their lumens and proceeding eventually to fibrosis and calcification. tmpxe7fu0cj_hp_relaxed.owl Note that in mouse and rats the initial lesions are mostly in the medial layer while in human they occur in the intima. mouse_pathology.ontology owl:Class HP:0040248 biolink:NamedThing Reduced plasminogen activator inhibitor 1 activity Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280700 This term has been requested and created by members of the BRIDGE consortium owl:Class HP:0033163 biolink:NamedThing Small intestinal bacterial overgrowth An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml. tmpxe7fu0cj_hp_relaxed.owl 2020-09-24 09:20:07+00:00 peter owl:Class HP:0003376 biolink:NamedThing Steppage gait An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. tmpxe7fu0cj_hp_relaxed.owl High stepping|'steppage' gait UMLS:C0427149|SNOMEDCT_US:27253007|MSH:D020233 owl:Class HP:0020062 biolink:NamedThing Decreased hemoglobin concentration An abnormal reduction below normal hemoglobin concentration in the circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased haemoglobin concentration|Decreased Hb concentration 2018-09-28 23:53:11+00:00 robinp owl:Class UBERON:0035403 biolink:NamedThing hypophysial artery An artery that supplies the pituitary gland. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0005227 biolink:NamedThing Adenomatous colonic polyposis Presence of multiple adenomatous polyps in the colon. tmpxe7fu0cj_hp_relaxed.owl Multiple colonic adenomatous polyps|Multiple adenomatous colon polyps UMLS:C1868071|MEDDRA:10056981 HP:0005226 human_phenotype owl:Class HP:0033609 biolink:NamedThing Solid pulmonary nodule A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 22:14:34+00:00 peter owl:Class GO:0042073 biolink:NamedThing intraciliary transport The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. tmpxe7fu0cj_hp_relaxed.owl IFT|intraflagellar transport involved in microtubule-based flagellum organisation|intraflagellar transport|intraflagellar transport involved in cilium organization Wikipedia:Intraflagellar_transport Note that we deem cilium and microtubule-based flagellum to be equivalent. GO:0035734 biological_process owl:Class CHEBI:29101 biolink:NamedThing sodium(1+) A monoatomic monocation obtained from sodium. tmpxe7fu0cj_hp_relaxed.owl Na+|sodium(1+)|sodium(1+) ion|SODIUM ION|Na(+)|sodium cation|sodium(I) cation +1 Na InChI=1S/Na/q+1 FKNQFGJONOIPTF-UHFFFAOYSA-N 22.98977 22.98922 [Na+] CAS:17341-25-2|PDBeChem:NA|KEGG:C01330|Gmelin:15196 CHEBI:26717|CHEBI:49766|CHEBI:9175 chebi_ontology owl:Class CHEBI:25414 biolink:NamedThing monoatomic monocation tmpxe7fu0cj_hp_relaxed.owl monovalent inorganic cations|monoatomic monocations +1 0.00000 [*+] chebi_ontology owl:Class GO:0032241 biolink:NamedThing positive regulation of nucleobase-containing compound transport Any process that activates or increases the frequency, rate or extent of the directed movement of nucleobases, nucleosides, nucleotides and nucleic acids, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl up regulation of nucleobase, nucleoside, nucleotide and nucleic acid transport|activation of nucleobase, nucleoside, nucleotide and nucleic acid transport|upregulation of nucleobase, nucleoside, nucleotide and nucleic acid transport|positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid transport|stimulation of nucleobase, nucleoside, nucleotide and nucleic acid transport|up-regulation of nucleobase, nucleoside, nucleotide and nucleic acid transport biological_process owl:Class UBERON:0036656 biolink:NamedThing wall of third ventricle tmpxe7fu0cj_hp_relaxed.owl FMA:242776 uberon owl:Class HP:0032493 biolink:NamedThing Increased circulating trypsinogen An abnormally high concentration of trypsinogen in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased immunoreactive trypsinogen 2019-04-12 10:39:08+00:00 An elevated immunoreactive trypsinogen test can be observed in infants with cystic fibrosis. peter owl:Class UBERON:0001068 biolink:NamedThing skin of back A zone of skin that is part of a back [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl zone of skin of back|back skin|skin, dorsal region|back zone of skin EMAPA:36392|MA:0000498|FMA:22985|FMA:10462|SCTID:181492002 TODO - distinguish between entire skin of region and arbitrary zone of skin on region uberon owl:Class HP:0025460 biolink:NamedThing High myoinositol in brain by MRS An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl High myo-inositol in brain by MRS 2017-05-05 10:59:49+00:00 Myo-Inositol (MI) is one of the most abundant metabolites in the human brain located mainly in glial cells and functions as an osmolyte. The concentration of MI is altered in many brain disorders including Alzheimer's disease and brain tumors. HPO:probinson owl:Class HP:0011767 biolink:NamedThing Abnormality of the parathyroid physiology A functional abnormality of the parathyroid gland. tmpxe7fu0cj_hp_relaxed.owl Parathyroid issue|Parathyroid dysfunction UMLS:C4023198 peter 2012-04-22T04:09:13Z human_phenotype owl:Class HP:0003524 biolink:NamedThing Decreased methionine synthase activity A reduction in methionine synthase activity. tmpxe7fu0cj_hp_relaxed.owl Methionine synthase activity decreased|Reduced methionine synthase activity|Methionine synthase deficiency|Decreased activity of methionine synthase UMLS:C1848580 Cobalamin-dependent methionine synthase catalyzes the transfer of a methyl group from N5-methyltetrahydrofolate to homocysteine, producing tetrahydrofolate and methionine, i.e., (6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine. human_phenotype owl:Class GO:2000542 biolink:NamedThing negative regulation of gastrulation Any process that stops, prevents or reduces the frequency, rate or extent of gastrulation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-04-01T04:10:08Z biological_process owl:Class HP:0011247 biolink:NamedThing Prominent superior crus of antihelix Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem. tmpxe7fu0cj_hp_relaxed.owl Hyperplastic superior crus of antihelix|Hypertrophic superior crus of antihelix UMLS:C4021188 This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately. peter 2011-12-18T12:02:57Z human_phenotype owl:Class GO:0002732 biolink:NamedThing positive regulation of dendritic cell cytokine production Any process that activates or increases the frequency, rate, or extent of dendritic cell cytokine production. tmpxe7fu0cj_hp_relaxed.owl activation of dendritic cell cytokine production|upregulation of dendritic cell cytokine production|up-regulation of dendritic cell cytokine production|stimulation of dendritic cell cytokine production|up regulation of dendritic cell cytokine production biological_process owl:Class CL:0002539 biolink:NamedThing aortic smooth muscle cell A smooth muscle cell of the aorta. tmpxe7fu0cj_hp_relaxed.owl BTO:0004577 tmeehan 2011-02-28T01:42:12Z cell owl:Class HP:0002640 biolink:NamedThing Hypertension associated with pheochromocytoma A type of hypertension associated with pheochromocytoma. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025693 human_phenotype owl:Class HP:0008321 biolink:NamedThing Reduced factor X activity Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). tmpxe7fu0cj_hp_relaxed.owl Decreased factor x activity|Factor X deficiency SNOMEDCT_US:76642003|UMLS:C4024702|UMLS:C0015519|MSH:D005171 human_phenotype owl:Class HP:0025395 biolink:NamedThing Combined cystic and ground-glass pattern on pulmonary HRCT Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, tmpxe7fu0cj_hp_relaxed.owl 2017-04-22 13:05:42+00:00 HPO:probinson owl:Class HP:0002888 biolink:NamedThing Ependymoma The presence of an ependymoma of the central nervous system. tmpxe7fu0cj_hp_relaxed.owl MSH:D004806|UMLS:C0014474|NCIT:C3017|SNOMEDCT_US:443643007|SNOMEDCT_US:57706008 According to MPATH, ependymomas are neoplasms derived from the ependymal cells lining the ventricles and aqueduct of the brain and the central canal of the spinal cord and may be malignant or benign. human_phenotype owl:Class UBERON:0034946 biolink:NamedThing gas excreted from digestive tract Any excreted gas that is produced by the digestive tract. tmpxe7fu0cj_hp_relaxed.owl flatulence|intestinal gas|flatus FMA:78440 In mammals, mostly produced as a byproduct of bacterial fermentation in the gastrointestinal (GI) tract, especially the colon, and excreted through the rectum uberon owl:Class GO:0014733 biolink:NamedThing regulation of skeletal muscle adaptation Any process in which skeletal muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. These adaptive events occur in both muscle fibers and associated structures (motoneurons and capillaries), and they involve alterations in regulatory mechanisms, contractile properties and metabolic capacities. tmpxe7fu0cj_hp_relaxed.owl regulation of skeletal muscle plasticity biological_process owl:Class HP:0012375 biolink:NamedThing Chemosis Edema (swelling) of the bulbar conjunctiva. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0271298|SNOMEDCT_US:8148005 peter 2013-10-13T05:45:45Z human_phenotype owl:Class PATO:0000585 biolink:NamedThing hypotrophic A decreased size quality inhering in a bearer by virtue of the bearer's exhibiting reduced size of a cell or constituent group of cells (for example, organ). tmpxe7fu0cj_hp_relaxed.owl shrunken PATO:0000412 quality owl:Class HP:0008846 biolink:NamedThing Severe intrauterine growth retardation Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. tmpxe7fu0cj_hp_relaxed.owl Severe prenatal growth deficiency|Intrauterine growth retardation, severe UMLS:C1855843 HP:0008906|HP:0008899 human_phenotype owl:Class HP:0001511 biolink:NamedThing Intrauterine growth retardation An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. tmpxe7fu0cj_hp_relaxed.owl Intrauterine growth failure|Intrauterine growth retardation, IUGR|In utero growth retardation|Prenatal onset growth retardation|Prenatal growth deficiency|IUGR|Prenatal-onset growth retardation|Intrauterine growth restriction|Intrauterine retardation|Small for gestational age infant|Prenatal growth failure|Prenatal growth retardation UMLS:C1386048|UMLS:C0015934|UMLS:C0021296|MSH:D005317|MSH:D007236|SNOMEDCT_US:199612005|SNOMEDCT_US:22033007 Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. HP:0001515|HP:0008931|HP:0008892|HP:0008862 human_phenotype owl:Class HP:0004016 biolink:NamedThing Cupped radial metaphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025443 human_phenotype owl:Class HP:0003848 biolink:NamedThing Cupped metaphyses of the upper limbs tmpxe7fu0cj_hp_relaxed.owl Cupped wide portion of the upper limb bone UMLS:C4025555 human_phenotype owl:Class PR:000001786 biolink:NamedThing prominin-1 A prominin that is a translation product of the human PROM1 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl PROM1|MSTP061|CD133|Prom|antigen AC133 homolog|antigen AC133|prominin-like protein 1|PROML1 Category=gene. Requested by=CL. protein owl:Class UBERON:0006925 biolink:NamedThing digestive system gland Any gland that is part of the digestive system. tmpxe7fu0cj_hp_relaxed.owl digestive gland AAO:0000130|BTO:0000345 uberon owl:Class HP:0009683 biolink:NamedThing Small epiphysis of the distal phalanx of the thumb Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of thumb outermost bone UMLS:C4024236 doelkens 2009-01-30T09:18:09Z human_phenotype owl:Class HP:0430026 biolink:NamedThing Abnormality of the shape of the midface An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims. tmpxe7fu0cj_hp_relaxed.owl Dysmorphic midface|Abnormal morphology of the midface|Abnormality of the shape of the midface UMLS:C4073208 owl:Class GO:0002932 biolink:NamedThing tendon sheath development The process whose specific outcome is the progression of a tendon sheath over time, from its formation to the mature structure. A tendon sheath is a layer of membrane around a tendon. It permits the tendon to move. tmpxe7fu0cj_hp_relaxed.owl hjd 2012-04-23T02:11:22Z biological_process owl:Class CHEBI:25676 biolink:NamedThing oligopeptide A peptide containing a relatively small number of amino acids. tmpxe7fu0cj_hp_relaxed.owl Oligopeptid|oligopeptido|oligopeptides Wikipedia:Oligopeptide CHEBI:7755 chebi_ontology owl:Class GO:0035305 biolink:NamedThing negative regulation of dephosphorylation Any process the stops, prevents, or reduces the frequency, rate or extent of removal of phosphate groups from a molecule. tmpxe7fu0cj_hp_relaxed.owl inhibition of dephosphorylation|downregulation of dephosphorylation|down-regulation of dephosphorylation|down regulation of dephosphorylation biological_process owl:Class HP:0009258 biolink:NamedThing Small epiphysis of the distal phalanx of the 4th finger Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of the outermost bone of the ring finger UMLS:C4024489 doelkens 2009-01-07T12:07:34Z human_phenotype owl:Class GO:0045686 biolink:NamedThing negative regulation of glial cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of glia cell differentiation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of glial cell differentiation|downregulation of glial cell differentiation|down regulation of glial cell differentiation|negative regulation of neuroglia differentiation|negative regulation of glia cell differentiation|inhibition of glial cell differentiation biological_process owl:Class CL:0000891 biolink:NamedThing foam cell A type of cell containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions. tmpxe7fu0cj_hp_relaxed.owl BTO:0003872|FMA:83586 cell owl:Class HP:0032299 biolink:NamedThing Increased circulating IgG2 level An abnormally increased concentration of the IgG2 subtype in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 22:55:31+00:00 Immunoglobulin G-antibody responses to bacterial capsular polysaccharide antigens can be almost completely restricted to IgG2. peter owl:Class UBERON:0005658 biolink:NamedThing secondary palatal shelf epithelium An epithelium that is part of a secondary palatal shelf. tmpxe7fu0cj_hp_relaxed.owl palatal shelf epithelium VHOG:0001040|EHDAA2:0001365|EMAPA:17363|FMA:312465 uberon owl:Class GO:0048639 biolink:NamedThing positive regulation of developmental growth Any process that activates, maintains or increases the rate of developmental growth. tmpxe7fu0cj_hp_relaxed.owl up-regulation of developmental growth|upregulation of developmental growth|activation of developmental growth|stimulation of developmental growth|up regulation of developmental growth biological_process owl:Class HP:0010344 biolink:NamedThing Deviation of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Displacement of the 5th toe|Displacement of the pinky toe|Displacement of the little toe|Displacement of the pinkie toe UMLS:C4021291 doelkens 2009-07-16T11:41:49Z human_phenotype owl:Class UBERON:0001849 biolink:NamedThing membranous labyrinth Organ with organ cavity which consists of the vestibular labyrinth and the cochlear labyrinth. The membranous labyrinth is lodged within the bony labyrinth and has the same general form; it is, however, considerably smaller and is partly separated from the bony walls by a quantity of fluid, the perilymph.[FMA, WP]. tmpxe7fu0cj_hp_relaxed.owl labyrinthus membranaceus VHOG:0000729|EMAPA:17815|EHDAA:4698|UMLS:C0458700|AAO:0011060|FMA:61022|EV:0100367|EHDAA2:0000899|XAO:0000194|MA:0000242|NCIT:C33090 http://upload.wikimedia.org/wikipedia/commons/8/8c/Gray924.png UBERON:0010113 uberon owl:Class A system of communicating epithelial sacs and ducts within the bony labyrinth, containing the endolymph. [TFD][VHOG] The labyrinth, or inner ear, evolved very early in vertebrate history and, with many variations in configuration but none of basic design and function, has been retained by all vertebrates.[well established][VHOG] inner ear has parts membranous and osseuous/bony labyrinth. it's not clear where the EMAPA term 'labyrinth' belong, we place them here for now CHEBI:51151 biolink:NamedThing dipolar compound An organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case. tmpxe7fu0cj_hp_relaxed.owl dipolar compounds chebi_ontology owl:Class CHEBI:72695 biolink:NamedThing organic molecule Any molecule that consists of at least one carbon atom as part of the electrically neutral entity. tmpxe7fu0cj_hp_relaxed.owl organic compounds|organic molecules|organic compound chebi_ontology owl:Class HP:0002039 biolink:NamedThing Anorexia A lack or loss of appetite for food (as a medical condition). tmpxe7fu0cj_hp_relaxed.owl Anorexia SNOMEDCT_US:79890006|MSH:D000855|UMLS:C0003123 Note that this term does not refer to the condition anorexia nervosa (A disorder characterized by an obsessive desire to lose weight by refusing to eat). human_phenotype owl:Class GO:1903336 biolink:NamedThing negative regulation of vacuolar transport Any process that stops, prevents or reduces the frequency, rate or extent of vacuolar transport. tmpxe7fu0cj_hp_relaxed.owl inhibition of vacuolar transport|down-regulation of vacuolar transport|down regulation of vacuolar transport|downregulation of vacuolar transport vw 2014-08-18T13:16:11Z biological_process owl:Class CHEBI:27024 biolink:NamedThing toluenes Any member of the class of benzenes that is a substituted benzene in which the substituents include one (and only one) methyl group. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0031957 biolink:NamedThing Spastic hemiparetic gait Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster. tmpxe7fu0cj_hp_relaxed.owl Wernicke-Mann gait 2018-07-07 14:01:46+00:00 peter owl:Class HP:0002064 biolink:NamedThing Spastic gait Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. tmpxe7fu0cj_hp_relaxed.owl Spastic walk SNOMEDCT_US:9447003|UMLS:C0231687|MSH:D020233 owl:Class UBERON:0009505 biolink:NamedThing mesenchyme of trachea Mesenchyme that is part of a developing trachea. tmpxe7fu0cj_hp_relaxed.owl trachea associated mesenchyme EMAPA:16854|EHDAA2:0002067 uberon owl:Class UBERON:0018614 biolink:NamedThing permanent lower tooth tmpxe7fu0cj_hp_relaxed.owl secondary lower tooth uberon owl:Class UBERON:0004015 biolink:NamedThing embryonic-extraembryonic boundary The connection between the embryo proper and extraembryonic tissues. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class CHEBI:86327 biolink:NamedThing antifungal drug Any antifungal agent used to prevent or treat fungal infections in humans or animals. tmpxe7fu0cj_hp_relaxed.owl pharmaceutical fungicides|antifungal drugs|anti-fungal medication|antifungal medications|anti-fungal medications|anti-fungal drugs|anti-fungal drug|antifungal medication|pharmaceutical fungicide Wikipedia:Antifungal chebi_ontology owl:Class CHEBI:35718 biolink:NamedThing antifungal agent An antimicrobial agent that destroys fungi by suppressing their ability to grow or reproduce. tmpxe7fu0cj_hp_relaxed.owl antifungal agents|antifungal drugs|antifungals|antifungal drug|antifungal chebi_ontology owl:Class HP:0003213 biolink:NamedThing Deficient excision of UV-induced pyrimidine dimers in DNA tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025640 human_phenotype owl:Class HP:0003254 biolink:NamedThing Abnormality of DNA repair An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021848 human_phenotype owl:Class CHEBI:25799 biolink:NamedThing oxopentanoic acid A C5 fatty acid carrying an oxo group at any position. tmpxe7fu0cj_hp_relaxed.owl oxovaleric acid|oxopentanoic acid 0 C5H8O3 116.115 116.04734 chebi_ontology owl:Class HP:0008014 biolink:NamedThing Central fundal arteriolar microaneurysms Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024755 human_phenotype owl:Class HP:0032416 biolink:NamedThing Retinal microaneurysm A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells. tmpxe7fu0cj_hp_relaxed.owl 2019-02-26 13:58:30+00:00 A microaneurysm may be a focal bulge or have a saccular, fusiform, or mixed appearance. Multiple microaneurysm may be observed in the fundus. peter owl:Class HP:0410023 biolink:NamedThing Abnormal distribution of cell junction proteins in buccal mucosal cells An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43. tmpxe7fu0cj_hp_relaxed.owl Buccal mucosal cells are harvested from the oral mucosa in the region of the cheek, and can be used as a surrogate tissue to measure cell junction proteins because it is difficult to obtain cells from a tissue of interest such as the myocardium. Cell junction proteins, such as plakoglobin and the major cardiac gap junction protein Cx43 may have an abnormal distribution in diseases such as arrhythmogenic cardiomyopathy. ORCID:0000-0001-5208-3432 owl:Class UBERON:0003463 biolink:NamedThing trunk bone A bone that is part of a trunk [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bone organ of torso|trunk bone organ|torso bone|bone organ of trunk|bone of trunk|torso bone organ|bone of torso MA:0000512|SCTID:427358002|EMAPA:36583 uberon owl:Class HP:0009168 biolink:NamedThing Bullet-shaped middle phalanx of the 5th finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped middle pinkie finger bone|Bullet-shaped middle little finger bone|Bullet-shaped middle pinky finger bone UMLS:C4024560 peter 2008-12-29T02:44:53Z human_phenotype owl:Class HP:0009993 biolink:NamedThing Complete duplication of the proximal phalanx of the 5th finger Complete duplication of the fifth proximal phalanx of hand. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the innermost little finger bone|Complete duplication of the innermost pinky finger bone|Complete duplication of the innermost pinkie finger bone UMLS:C4024124 doelkens 2009-05-26T02:24:33Z human_phenotype owl:Class HP:0009990 biolink:NamedThing Duplication of the proximal phalanx of the 5th finger Partial or complete duplication of the fifth proximal phalanx of hand. tmpxe7fu0cj_hp_relaxed.owl Duplication of the innermost pinky finger bone|Duplication of the innermost pinkie finger bone|Duplication of the innermost little finger bone|Partial/complete duplication of the proximal phalanx of the 5th finger UMLS:C4021351 doelkens 2009-05-26T02:24:20Z human_phenotype owl:Class HP:0012238 biolink:NamedThing Increased circulating chylomicron concentration Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. tmpxe7fu0cj_hp_relaxed.owl Increased circulating chylomicron levels|Increased chylomicrons|Hyperchylomicronemia UMLS:C1535978 peter 2013-03-31T04:17:11Z human_phenotype owl:Class CHEBI:33256 biolink:NamedThing primary amide A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. tmpxe7fu0cj_hp_relaxed.owl primary amide|primary amides chebi_ontology owl:Class HP:0000869 biolink:NamedThing Secondary amenorrhea tmpxe7fu0cj_hp_relaxed.owl Previous menstrual periods stop UMLS:C0232940|SNOMEDCT_US:86030004 human_phenotype owl:Class HP:0033835 biolink:NamedThing Abnormal renal vascular morphology Anomalous structure of a blood vessel in the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-05-16 17:27:46+00:00 peter owl:Class HP:0030021 biolink:NamedThing Auricular tag Small protrusion within the pinna. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022674 The tag can be located on either side of the pinna. owl:Class HP:0030902 biolink:NamedThing Palmomental reflex A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm. tmpxe7fu0cj_hp_relaxed.owl The palmomental reflex is often present in normal people and may be absent in disease states. Testing merely for the presence or absence of the reflex therefore lacks both specificity and sensitivity. A strong, sustained, and easily repeatable contraction of the mentalis muscle, which can be elicited by stimulation of areas other than the palm, is more likely to indicate cerebral damage. owl:Class HP:0100954 biolink:NamedThing Open operculum Underdevelopment of the operculum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2675973 doelkens 2011-12-02T04:55:20Z owl:Class HP:0200030 biolink:NamedThing Punctate vasculitis skin lesions tmpxe7fu0cj_hp_relaxed.owl UMLS:C3277693 sebastiankohler 2010-06-17T02:55:38Z human_phenotype owl:Class HP:0200029 biolink:NamedThing Vasculitis in the skin tmpxe7fu0cj_hp_relaxed.owl Cutaneous vasculitis UMLS:C0262988|SNOMEDCT_US:53312001 sebastiankohler 2010-06-17T02:55:19Z human_phenotype owl:Class CHEBI:24669 biolink:NamedThing hydroxy carboxylic acid Any carboxylic acid with at least one hydroxy group. tmpxe7fu0cj_hp_relaxed.owl hydroxycarboxylic acids|hydroxycarboxylic acid|hydroxy carboxylic acids chebi_ontology owl:Class CL:0002086 biolink:NamedThing specialized cardiac myocyte A cardiac myocyte that is an excitable cells in the myocardium, specifically in the conducting system of heart. tmpxe7fu0cj_hp_relaxed.owl FMA:67968 tmeehan 2010-07-21T01:33:38Z cell owl:Class HP:0032664 biolink:NamedThing Adversive status epilepticus A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032663 biolink:NamedThing Focal motor status epilepticus Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. tmpxe7fu0cj_hp_relaxed.owl Including aware and unaware focal motor status epilepticus, but note that hyperkinetic status epilepticus (of focal onset) is classified separately. peter owl:Class HP:0002623 biolink:NamedThing Overriding aorta An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle. tmpxe7fu0cj_hp_relaxed.owl Overriding aortic valve|Dextroposition of aorta SNOMEDCT_US:63934006|Fyler:1432|UMLS:C0011818|UMLS:C0265886 human_phenotype owl:Class CHEBI:32832 biolink:NamedThing threoninate tmpxe7fu0cj_hp_relaxed.owl rel-(2R,3S)-2-amino-3-hydroxybutanoate|threoninate|threonine anion 0 C4H8NO3 118.111 118.05042 chebi_ontology owl:Class HP:0012472 biolink:NamedThing Eclabion A turning outward of the lip or lips, that is, eversion of the lips. tmpxe7fu0cj_hp_relaxed.owl Eclabium|Everted lips|Outward turned lips UMLS:C3550430 peter 2013-11-26T10:20:23Z human_phenotype owl:Class CHEBI:33906 biolink:NamedThing cobalt corrinoid tmpxe7fu0cj_hp_relaxed.owl cobalt corrinoids|cobalt-corrinoids chebi_ontology owl:Class HP:0001491 biolink:NamedThing Congenital fibrosis of extraocular muscles Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. tmpxe7fu0cj_hp_relaxed.owl Congenital ophthalmoplegia|CFEOM|Congenital fibrosis of the extraocular muscles SNOMEDCT_US:400946004|UMLS:C1302995|MSH:C580012 owl:Class HP:0008501 biolink:NamedThing Median cleft lip and palate Cleft lip or palate affecting the midline region of the palate. tmpxe7fu0cj_hp_relaxed.owl Wide midline cleft lip/palate|Midline cleft lip/palate|Medial cleft lip and palate|Central cleft lip and palate UMLS:C2750604 HP:0009089 human_phenotype owl:Class HP:0010624 biolink:NamedThing Aplastic/hypoplastic toenail Absence or underdevelopment of the toenail. tmpxe7fu0cj_hp_relaxed.owl Aplastic/hypoplastic toenails|Absent/small toenails|Hypoplastic-absent toenails|Absent/underdeveloped toenails UMLS:C1856749 doelkens 2009-11-20T05:55:11Z HP:0008381|HP:0008389 human_phenotype owl:Class HP:0008705 biolink:NamedThing Ureteral triplication tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024635 human_phenotype owl:Class CHEBI:35479 biolink:NamedThing alkali metal salt tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:4000070 biolink:NamedThing Circumscribed interests Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests). tmpxe7fu0cj_hp_relaxed.owl Restricted interests robinp owl:Class HP:0007381 biolink:NamedThing Congenital exfoliative erythroderma tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024892 human_phenotype owl:Class HP:0001019 biolink:NamedThing Erythroderma An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. tmpxe7fu0cj_hp_relaxed.owl Generalised erythrodermia|Exfoliative dermititis|Generalised erythroderma|Red scaly skin caused by inflammatory skin disease|Generalized erythrodermia|Generalized erythroderma SNOMEDCT_US:400005007|SNOMEDCT_US:399992009|MSH:D003873|SNOMEDCT_US:396349005|SNOMEDCT_US:200948000|UMLS:C0011606|SNOMEDCT_US:396350005 human_phenotype owl:Class HP:0033403 biolink:NamedThing Testicular ischemia Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain and swelling of the affected testis. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 15:21:10+00:00 peter owl:Class HP:0033401 biolink:NamedThing Tissue ischemia Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 15:02:58+00:00 peter owl:Class HP:0030925 biolink:NamedThing 5-minute APGAR score of 5 tmpxe7fu0cj_hp_relaxed.owl 2016-11-07 18:14:57+00:00 robinp owl:Class CHEBI:63161 biolink:NamedThing glycosyl compound A carbohydrate derivative arising formally from the elimination of water from a glycosidic hydroxy group and an H atom bound to an oxygen, carbon, nitrogen or sulfur atom of a separate entity. tmpxe7fu0cj_hp_relaxed.owl glycosyl compounds chebi_ontology owl:Class UBERON:0005993 biolink:NamedThing pulmonary valve anulus The fibrous ring of the pulmonary valve that attaches the cusps of pulmonary valve to the wall of right ventricle, and which consists of portions of the fibrous scallops of the anterior, right posterior and left posterior cusps. tmpxe7fu0cj_hp_relaxed.owl anulus of pulmonary valve|pulmonary anulus|pulmonary valvar anulus|fibrous ring of pulmonary valve EMAPA:37420|FMA:9503 uberon owl:Class HP:0008348 biolink:NamedThing Decreased circulating IgG2 level A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Immunoglobulin IgG2 deficiency|Reduced IgG2 levels|Decreased IgG2 level in blood UMLS:C4021545 HP:0008310 human_phenotype owl:Class UBERON:0000094 biolink:NamedThing membrane organ Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA]. tmpxe7fu0cj_hp_relaxed.owl membrane|membrane of organ FMA:7145 cjm 2009-07-30T05:19:13Z uberon owl:Class HP:0001325 biolink:NamedThing Hypoglycemic coma tmpxe7fu0cj_hp_relaxed.owl Coma caused by low blood sugar|Loss of consciousness due to hypoglycemia|Hypoglycaemic coma|Coma, hypoglycemic UMLS:C0020617|SNOMEDCT_US:267384006 human_phenotype owl:Class HP:0001259 biolink:NamedThing Coma Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. tmpxe7fu0cj_hp_relaxed.owl Coma MSH:D003128|SNOMEDCT_US:371632003|UMLS:C0009421|ICD-10:R40.2 Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem. human_phenotype owl:Class GO:0110023 biolink:NamedThing negative regulation of cardiac muscle myoblast proliferation Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle myoblast proliferation. tmpxe7fu0cj_hp_relaxed.owl kmv 2017-06-29T15:18:30Z biological_process owl:Class HP:0410381 biolink:NamedThing Abnormal proportion of central memory CD4-positive, alpha-beta T cells An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0046324 biolink:NamedThing regulation of glucose import Any process that modulates the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. tmpxe7fu0cj_hp_relaxed.owl regulation of glucose uptake biological_process owl:Class HP:0005293 biolink:NamedThing Venous insufficiency tmpxe7fu0cj_hp_relaxed.owl Poorly functioning veins MSH:D014689|UMLS:C0042485|SNOMEDCT_US:20696009 human_phenotype owl:Class HP:0410253 biolink:NamedThing Myeloid maturation arrest Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl Myeloid maturation arrest in bone marrow 2018-10-19 18:41:56+00:00 owl:Class GO:0045823 biolink:NamedThing positive regulation of heart contraction Any process that activates or increases the frequency, rate or extent of heart contraction. tmpxe7fu0cj_hp_relaxed.owl stimulation of heart contraction|up regulation of heart contraction|activation of heart contraction|positive regulation of cardiac contraction|up-regulation of heart contraction|upregulation of heart contraction biological_process owl:Class HP:0004375 biolink:NamedThing Neoplasm of the nervous system A tumor (abnormal growth of tissue) of the nervous system. tmpxe7fu0cj_hp_relaxed.owl Nervous system cancer|Tumor of the nervous system|Tumour of the nervous system|Neoplasia of the nervous system NCIT:C3262|SNOMEDCT_US:126950007|UMLS:C0027766|MSH:D009423 peter 2008-03-18T07:38:00Z human_phenotype owl:Class UBERON:0005699 biolink:NamedThing pedal digit 5 mesenchyme Mesenchyme that is part of a developing pedal digit 5. tmpxe7fu0cj_hp_relaxed.owl pedal digit V mesenchyme|hind limb digit 5 mesenchyme|foot digit 5 mesenchyme EMAPA:17474|EHDAA2:0002059 uberon owl:Class GO:0044419 biolink:NamedThing biological process involved in interspecies interaction between organisms Any process evolved to enable an interaction with an organism of a different species. tmpxe7fu0cj_hp_relaxed.owl interspecies interaction|interspecies interaction between organisms|interaction with another species|interspecies interaction with other organisms https://github.com/geneontology/go-ontology/issues/20191 biological_process owl:Class PATO:0001790 biolink:NamedThing decreased mass density A density which is lower relative to the normal or average. tmpxe7fu0cj_hp_relaxed.owl low density quality owl:Class PATO:0001164 biolink:NamedThing dense A physical quality which inheres in a bearer by virtue of the bearer's exhibiting density. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0011942 biolink:NamedThing Increased urinary sulfite Increased concentration of SO3(2-), i.e., sulfite, in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1848957 peter 2012-06-11T07:36:01Z owl:Class UBERON:0004755 biolink:NamedThing skeletal tissue A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO]. tmpxe7fu0cj_hp_relaxed.owl SCTID:309311006|EMAPA:37744|XAO:0004038|MA:0003047|VSAO:0000015|ZFA:0005619 Four classes of mineralized tissues are found in vertebrates: bone, cartilage, dentine, and enamel. We think of cartilage and bone as skeletal tissues and of enamel and dentine as dental tissues, but enamel and dentine arose evolutionarily together with bone as skeletal tissues in the dermal skeleton (exoskeleton) of early vertebrates. Scales and teeth of sharks are examples of dermal skeletal elements that are still composed of the three ancient components-enamel, dentine, and bone. Cartilage, on the other hand, provided the basis for the second vertebrate skeletal system, the endoskeleton (Smith and Hall, 1990; Hall, 1998a,b). some invertebrate skeletal tissues have surprisingly bone-like features. Examples include chondrocytes interconnected by cell processes in cephalopod cartilages (Cole and Hall, 2004a,b), and the calcium phosphate layer in the shells of brachiopods (Rodland et al., 2003). However, neither bone nor mineralized cartilage have been found in invertebrates. Editors notes: TODO - develops_from uberon owl:Class A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO] HP:0003080 biolink:NamedThing Hydroxyprolinuria An increased concentration of 4-hydroxy-L-proline in the urine. tmpxe7fu0cj_hp_relaxed.owl Elevated urinary hydroxyproline UMLS:C0948585 human_phenotype owl:Class CHEBI:26739 biolink:NamedThing sphingolipid Sphingolipids are a complex family of compounds that share a common structural feature, a sphingoid base backbone. tmpxe7fu0cj_hp_relaxed.owl sphingolipids chebi_ontology owl:Class MAXO:0010216 biolink:NamedThing vaginal ultrasonography The use of ultrasound to produce images of structures in the vagina. tmpxe7fu0cj_hp_relaxed.owl vagina ultrasound imaging procedure|sonography of vagina|vagina medical ultrasound|ultrasonography of vagina|vagina sonography|vagina diagnostic sonography|vagina ultrasound procedure|vagina ultrasound examination 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-3010 owl:Class HP:0011664 biolink:NamedThing Left ventricular noncompaction cardiomyopathy Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. tmpxe7fu0cj_hp_relaxed.owl Left ventricular non-compaction cardiomyopathy UMLS:C4021133 Left ventricular noncompaction cardiomyopathy (LVNC), also known as spongy myocardium, is a distinct form of cardiomyopathy occurring in-utero when segments of spongy myocardium fail to transform into compact, mature musculature resulting in prominent myocardial trabeculae, deep intra-trabecular recesses, and decreased cardiac function. It has been proposed that LVNC results from arrest of the compaction process during the second month of embryological development. peter 2012-04-09T11:31:40Z human_phenotype owl:Class HP:0012817 biolink:NamedThing Noncompaction cardiomyopathy A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. tmpxe7fu0cj_hp_relaxed.owl Spongiform cardiomyopathy|Noncompaction of the ventricular myocardium UMLS:C1839832 Noncompaction of the ventricular myocardium is a cardiomyopathy thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. This abnormality is often associated with other congenital cardiac defects, but it is also seen in the absence of other cardiac anomalies. During early embryonic development, the myocardium is a loose network of interwoven fibers separated by deep recesses that link the myocardium with the left ventricular cavity. Gradual compaction of this spongy meshwork of fibers and intertrabecular recesses, or sinusoids, occurs between weeks 5 and 8 of embryonic life, proceeding from the epicardium to endocardium and from the base of the heart to the apex. Noncompaction of the ventricular myocardium (NVM) is an uncommon finding. It is thought to be caused by arrest of the normal process of endomyocardial morphogenesis. The left ventricle is uniformly affected, but biventricular noncompaction has been reported, with right ventricular noncompaction described in less than one-half of patients. Because of difficulty in distinguishing normal variants in the highly trabeculated right ventricle from the pathological noncompacted ventricle, several authors dispute the existence of right ventricular noncompaction [PMID:15210614]. hecht 2014-05-28T08:37:34Z human_phenotype owl:Class HP:0200026 biolink:NamedThing Ocular pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. tmpxe7fu0cj_hp_relaxed.owl Eye pain UMLS:C0151827|MSH:D058447|SNOMEDCT_US:41652007 sebastiankohler 2010-06-16T07:39:04Z human_phenotype owl:Class UBERON:0003416 biolink:NamedThing mesenchyme of tongue Mesenchyme that is part of a developing tongue [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl tongue mesenchyme EMAPA:17882|EHDAA2:0004614 TODO - develops_from uberon owl:Class HP:0009936 biolink:NamedThing Narrow nasal septum Abnormally narrow nasal septum. tmpxe7fu0cj_hp_relaxed.owl Decreased width of nasal septum|Thin septum of nose|Narrow nasal septum|Thin nasal septum|Narrow septum of nose UMLS:C4024155 peter 2009-05-10T10:46:40Z human_phenotype owl:Class CHEBI:35313 biolink:NamedThing hexoside tmpxe7fu0cj_hp_relaxed.owl hexoside|hexosides chebi_ontology owl:Class CHEBI:24400 biolink:NamedThing glycoside A glycosyl compound resulting from the attachment of a glycosyl group to a non-acyl group RO-, RS-, RSe-, etc. The bond between the glycosyl group and the non-acyl group is called a glycosidic bond. By extension, the terms N-glycosides and C-glycosides are used as class names for glycosylamines and for compounds having a glycosyl group attached to a hydrocarbyl group respectively. These terms are misnomers and should not be used. The preferred terms are glycosylamines and C-glycosyl compounds, respectively. tmpxe7fu0cj_hp_relaxed.owl O-glycosides|O-glycoside|glycosides chebi_ontology owl:Class HP:0032929 biolink:NamedThing Abnormal chondrocyte morphology Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0071736 biolink:NamedThing IgG immunoglobulin complex, circulating A protein complex composed of two identical immunoglobulin heavy chains of an IgG isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpxe7fu0cj_hp_relaxed.owl IgG antibody|IgG2 antibody|IgG2a antibody|IgG1 antibody|IgG3 antibody|IgG4 antibody|IgG2b antibody|IgG2c antibody Note that an IgG immunoglobulin complex has the function of antigen binding if a suitable antigen is available. Also, IgG isotypes vary by species. mah 2010-03-24T01:44:53Z cellular_component owl:Class GO:0071735 biolink:NamedThing IgG immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of an IgG isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgG immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpxe7fu0cj_hp_relaxed.owl IgG2b|IgG1|IgG4|IgG2c|IgG2|IgG3|IgG2a Note that an IgG immunoglobulin complex has the function of antigen binding if a suitable antigen is available. Also, IgG isotypes vary by species. mah 2010-03-24T01:44:53Z cellular_component owl:Class HP:0100217 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the middle bone of the pinky toe|Fragmentation of the end part of the middle bone of the pinkie toe|Fragmentation of the end part of the middle bone of the little toe UMLS:C4022204 doelkens 2010-06-24T05:04:00Z human_phenotype owl:Class HP:0008978 biolink:NamedThing Necrotizing myopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024608 human_phenotype owl:Class GO:0007623 biolink:NamedThing circadian rhythm Any biological process in an organism that recurs with a regularity of approximately 24 hours. tmpxe7fu0cj_hp_relaxed.owl response to circadian rhythm|circadian process|circadian response Wikipedia:Circadian_rhythm GO:0050895 biological_process owl:Class UBERON:0011130 biolink:NamedThing temporomandibular joint primordium tmpxe7fu0cj_hp_relaxed.owl temporo-mandibular joint primordium EMAPA:18714 uberon owl:Class HP:0010759 biolink:NamedThing Prominence of the premaxilla Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla. tmpxe7fu0cj_hp_relaxed.owl Prominence of the primary palate bone|Prominence of the intermaxillary bone|Anterior position of the premaxilla|Premaxillary bone excess|Anterior position of the primary palate bone UMLS:C2749369 As a consequence of prominence of the premaxilla, the overlying structures, the nose and philtrum, may appear prominent. There is increased convexity of the face and an increased nasolabial angle. In the presence of a normal sized mandible, retrognathia may be appreciated. sdoelken 2010-04-23T11:01:23Z human_phenotype owl:Class HP:0010758 biolink:NamedThing Abnormality of the premaxilla An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the intermaxillary bone|Abnormality of the primary palate bone|Abnormality of the premaxillary bone|Abnormality of the intermaxillary segment of the maxilla UMLS:C4023711 sdoelken 2010-04-23T10:59:07Z human_phenotype owl:Class HP:0012568 biolink:NamedThing Lower eyelid edema Edema in the region of the Lower eyelid. tmpxe7fu0cj_hp_relaxed.owl Puffiness of lower eyelid|Cellulitis of lower eyelid|Fullness of lower eyelid|Swelling of lower eyelid|Lower eyelid oedema SNOMEDCT_US:700327003|UMLS:C3839997|UMLS:C2025810 peter 2014-01-04T02:25:56Z human_phenotype owl:Class HP:0030205 biolink:NamedThing Increased jitter at single fiber EMG The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). tmpxe7fu0cj_hp_relaxed.owl Increased jitter at single fibre EMG|Increased jitter at single fibre electromyography UMLS:C4021045 Increased jitter values are not pathogonomic for myasthenia, but indicate disturbed neuromuscular transmission. owl:Class HP:0034038 biolink:NamedThing Silent hypoxemia Abnormally low blood oxygen level without the presence of dyspnea. tmpxe7fu0cj_hp_relaxed.owl 2021-09-24 14:01:11+00:00 peter owl:Class HP:0011593 biolink:NamedThing Left aortic arch with retroesophageal diverticulum of Kommerell A patent ductus arteriosus or ductal ligament completes the ring. tmpxe7fu0cj_hp_relaxed.owl Kommerell diverticulum SNOMEDCT_US:74561007|UMLS:C0265885 peter 2012-04-08T02:02:42Z human_phenotype owl:Class UBERON:0006864 biolink:NamedThing distal metaphysis of femur A distal metaphysis that is part of a femur. tmpxe7fu0cj_hp_relaxed.owl FMA:32881 uberon owl:Class UBERON:0006865 biolink:NamedThing metaphysis of femur A metaphysis that is part of a femur. tmpxe7fu0cj_hp_relaxed.owl femoral metaphysis MA:0003052|EMAPA:37540|FMA:32875 uberon owl:Class GO:0006860 biolink:NamedThing extracellular amino acid transport The directed extracellular movement of amino acids. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0007384 biolink:NamedThing Aberrant melanosome maturation tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969516 human_phenotype owl:Class HP:0033881 biolink:NamedThing Arcuate vein intimal/medial myxomatous degeneration Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney. tmpxe7fu0cj_hp_relaxed.owl Myxomatous change within arcuate vein intima/media 2021-06-23 19:47:34+00:00 peter owl:Class HP:0030055 biolink:NamedThing Hyperconvex toenail When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022661 owl:Class HP:0009350 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of innermost long bone of the middle finger UMLS:C4024419 doelkens 2009-01-12T11:19:03Z human_phenotype owl:Class CHEBI:12777 biolink:NamedThing vitamin A Any member of a group of fat-soluble retinoids produced via metabolism of provitamin A carotenoids that exhibit biological activity against vitamin A deficiency. Vitamin A is involved in immune function, vision, reproduction, and cellular communication. tmpxe7fu0cj_hp_relaxed.owl vitamin-A|vitamins A|vitamin A vitamers|vitamin A vitamer MetaCyc:Vitamin-A|Wikipedia:Vitamin_A chebi_ontology owl:Class CHEBI:26537 biolink:NamedThing retinoid Oxygenated derivatives of 3,7-dimethyl-1-(2,6,6-trimethylcyclohex-1-enyl)nona-1,3,5,7-tetraene and derivatives thereof. tmpxe7fu0cj_hp_relaxed.owl retinoids|retinoid chebi_ontology owl:Class HP:0008030 biolink:NamedThing Retinal arteritis tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:11255009|UMLS:C0271069 human_phenotype owl:Class HP:0025188 biolink:NamedThing Retinal vasculitis Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 22:37:03+00:00 This term refers to the appearance of the retinal vessels on fundoscopy or other investigations. Retinal vasculitis may be associated with other manifestations such as visual impairment. HPO:probinson owl:Class CHEBI:58190 biolink:NamedThing O-phosphonatoethanaminium(1-) An organophosphate oxoanion that is the conjugate base of O-phosphoethanolamine arising from deprotonation of the phosphate OH groups and protonation of the amino group; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl O-phosphonatoethanaminium|phosphoethanolamine|2-ammonioethyl phosphate|2-azaniumylethyl phosphate -1 C2H7NO4P InChI=1S/C2H8NO4P/c3-1-2-7-8(4,5)6/h1-3H2,(H2,4,5,6)/p-1 SUHOOTKUPISOBE-UHFFFAOYSA-M 140.05500 140.01182 [NH3+]CCOP([O-])([O-])=O chebi_ontology owl:Class CHEBI:58945 biolink:NamedThing organophosphate oxoanion An organic phosphoric acid derivative in which one or more oxygen atoms of the phosphate group(s) has been deprotonated. tmpxe7fu0cj_hp_relaxed.owl organophosphate oxoanions chebi_ontology owl:Class HP:0009798 biolink:NamedThing Euthyroid goiter A goiter that is not associated with functional thyroid abnormalities. tmpxe7fu0cj_hp_relaxed.owl Euthyroid goitre MSH:C562732|SNOMEDCT_US:32251000119106|UMLS:C0302859 peter 2009-02-11T05:21:23Z human_phenotype owl:Class HP:0004692 biolink:NamedThing 4-5 toe syndactyly Syndactyly with fusion of toes four and five. tmpxe7fu0cj_hp_relaxed.owl Syndactyly of toes 4 and 5|Webbed 4th-5th toes|Symmetric syndactyly, toes 4 and 5 UMLS:C1837836 HP:0005826|HP:0005861 owl:Class UBERON:0005222 biolink:NamedThing liver left lobe parenchyma A parenchyma that is part of a left lobe of liver [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl parenchyma of left lobe of liver VHOG:0000839|EHDAA2:0001002|EMAPA:18310|FMA:71658 uberon owl:Class HP:0011552 biolink:NamedThing Ambiguous atrioventricular connection With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle). tmpxe7fu0cj_hp_relaxed.owl Ambiguous atrioventricular connexion SNOMEDCT_US:253278008|UMLS:C0344617 peter 2012-04-07T11:33:24Z human_phenotype owl:Class HP:0030564 biolink:NamedThing Best corrected visual acuity 1.1 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073037 owl:Class HP:0002604 biolink:NamedThing Gastrointestinal telangiectasia Telangiectasia affecting the gastrointestinal tract. tmpxe7fu0cj_hp_relaxed.owl GI telangiectasia|Small, enlarged blood vessels near skin UMLS:C1619711 Telangiectasia affecting stomach, duodenum, small bowel, and/or colon. human_phenotype owl:Class GO:2000548 biolink:NamedThing negative regulation of dendritic cell dendrite assembly Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell dendrite assembly. tmpxe7fu0cj_hp_relaxed.owl negative regulation of dendritic extension ebc 2011-04-03T07:22:01Z biological_process owl:Class PATO:0002055 biolink:NamedThing increased fragility A fragility which is relatively high. tmpxe7fu0cj_hp_relaxed.owl 2009-03-26T04:01:37Z quality owl:Class PATO:0001362 biolink:NamedThing fragile A structural quality inhering in a bearer by virtue of the bearer's disposition to being easily damaged or destroyed. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0007024 biolink:NamedThing Pseudobulbar paralysis Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing. tmpxe7fu0cj_hp_relaxed.owl Pseudobulbar syndrome|Pseudobulbar palsy SNOMEDCT_US:7379000|MSH:D020828|UMLS:C0033790 HP:0006819|HP:0002201 owl:Class GO:0005743 biolink:NamedThing mitochondrial inner membrane The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. tmpxe7fu0cj_hp_relaxed.owl mitochondrion inner membrane|inner mitochondrial membrane|inner mitochondrion membrane NIF_Subcellular:sao1371347282|Wikipedia:Inner_mitochondrial_membrane cellular_component owl:Class GO:0031966 biolink:NamedThing mitochondrial membrane Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. tmpxe7fu0cj_hp_relaxed.owl NIF_Subcellular:sao1045389829 cellular_component owl:Class PATO:0001919 biolink:NamedThing mislocalised dorsally A positional quality inhering in a bearer by virtue of the bearer's being positioned towards the back or upper surface of an organism. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0034063 biolink:NamedThing Anti-islet antigen-2 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2. tmpxe7fu0cj_hp_relaxed.owl ICA512|Anti-islet antigen-2 antibody positivity|Anti-IA2 antibody positivity|Anti-IA2A 2021-12-18 14:13:16+00:00 peter owl:Class CL:0000052 biolink:NamedThing totipotent stem cell A stem cell from which all cells of the body can form. tmpxe7fu0cj_hp_relaxed.owl totipotential stem cell FMA:84790 cell owl:Class HP:0008494 biolink:NamedThing Inferior lens subluxation Partial displacement of the lens in the inferior direction. tmpxe7fu0cj_hp_relaxed.owl Inferior subluxated lens UMLS:C2036842 human_phenotype owl:Class HP:0001132 biolink:NamedThing Lens subluxation Partial dislocation of the lens of the eye. tmpxe7fu0cj_hp_relaxed.owl Partially dislocated lens UMLS:C0023316|MSH:D007906|SNOMEDCT_US:65814009 Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis). human_phenotype owl:Class HP:0410290 biolink:NamedThing Positive urine norpropoxyphene test Detection of norpropoxyphene in urine. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 20:20:19+00:00 owl:Class HP:0005101 biolink:NamedThing High-frequency hearing impairment A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz). tmpxe7fu0cj_hp_relaxed.owl High frequency hearing loss|Progressive high frequency hearing loss|High-frequency deafness|Progressive high-frequency hearing loss|Hearing loss, high-frequency UMLS:C0018780|MSH:D006316|SNOMEDCT_US:232326009|SNOMEDCT_US:48758008 High frequency hearing impairment often involves loss of ability to hear consonants such as s, f, t, and z, even though vowels can be heard normally. peter 2008-03-25T05:03:00Z HP:0008522|HP:0008584|HP:0008597 human_phenotype owl:Class HP:0007370 biolink:NamedThing Aplasia/Hypoplasia of the corpus callosum Absence or underdevelopment of the corpus callosum. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic or absent corpus callosum|Complete or partial absence of the corpus callosum|Absent/hypoplastic corpus callosum|Agenesis/hypoplastic corpus callosum|Hypoplasia or absence of the corpus callosum UMLS:C1861866 peter 2008-04-01T10:35:00Z HP:0007137|HP:0007003|HP:0007060|HP:0007061 owl:Class HP:0033725 biolink:NamedThing Thin corpus callosum An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). tmpxe7fu0cj_hp_relaxed.owl Thinning of the corpus callosum|Small corpus callosum 2021-04-07 16:39:13+00:00 peter owl:Class HP:0012616 biolink:NamedThing Leukocyte cylindruria Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. tmpxe7fu0cj_hp_relaxed.owl White blood cell casts UMLS:C4022819 peter 2014-01-17T12:05:08Z human_phenotype owl:Class GO:1990182 biolink:NamedThing exosomal secretion The process whereby a membrane-bounded vesicle is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl secretion of exosome|exosomal secretory pathway|extracellular vesicular exosome secretion|exosomal protein secretion|multi-vesicular body fusion with plasma membrane hjd 2013-09-04T21:08:14Z biological_process owl:Class HP:0000873 biolink:NamedThing Diabetes insipidus A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:15771004|UMLS:C0011848|MSH:D003919 owl:Class HP:0011169 biolink:NamedThing Generalized clonic seizure Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. tmpxe7fu0cj_hp_relaxed.owl Generalised clonic seizures|Generalised-onset clonic seizure|Generalised clonic seizure|Generalized clonic seizures|Generalized-onset clonic seizure|Generalised onset clonic seizure|Generalized onset clonic seizure UMLS:C4023499 Generalized clonic seizures are much less common than are tonic-clonic seizures, usually occur in infants, and should be distinguished from jitteriness or shuddering attacks. hecht 2011-11-19T09:53:43Z human_phenotype owl:Class HP:0020221 biolink:NamedThing Clonic seizure A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. tmpxe7fu0cj_hp_relaxed.owl This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding clonic seizures when the onset is not known. robinp 2020-02-24 15:50:52+00:00 owl:Class HP:0011727 biolink:NamedThing Peroneal muscle weakness Weakness of the peroneal muscles. tmpxe7fu0cj_hp_relaxed.owl Fibularis muscle weakness UMLS:C0240733 THe peroneal muscles (also known as fibularis muscles) originate from the fibula. The peroneal longus and brevis muscles are located on the lateral side of the leg, while peroneal tertius is on the anterior side. peter 2012-04-11T10:26:15Z human_phenotype owl:Class HP:0009053 biolink:NamedThing Distal lower limb muscle weakness Reduced strength of the distal musculature of the legs. tmpxe7fu0cj_hp_relaxed.owl Muscle weakness, lower limb, distal|Distal muscle weakness in lower limbs UMLS:C1836450 This finding can be due to peripheral neuropathy. HP:0009035|HP:0003485 human_phenotype owl:Class UBERON:0002221 biolink:NamedThing fontanelle Anatomical structure that is a membranous gap between bones of the skull[TAO]. In humans: Fontanelles are soft spots on a baby's head which, during birth, enable the bony plates of the skull to flex, allowing the child's head to pass through the birth canal. The ossification of the bones of the skull cause the fontanelles to close over by a child's second birthday. The closures eventually form the sutures of the neurocranium. Although there are the two anterior and posterior fontanelles, there are two more fontanelles of interest, the mastoid fontanelle, and the sphenoidal fontanelle[WP]. tmpxe7fu0cj_hp_relaxed.owl fontanel|fontanels|fontanelles|fonticuli cranii MA:0001465|NCIT:C32621|ZFA:0005536|TAO:0001738|FMA:75438|UMLS:C0224548 http://upload.wikimedia.org/wikipedia/commons/b/b3/Gray197.png TODO - check uberon owl:Class Anatomical structure that is a membranous gap between bones of the skull.[TAO] HP:0040174 biolink:NamedThing Abnormality of extrinsic muscle of tongue tmpxe7fu0cj_hp_relaxed.owl Abnormality of extrinsic lingual muscle UMLS:C4073140 HPO:skoehler owl:Class HP:0005143 biolink:NamedThing Anomalous origin of right pulmonary artery from ascending aorta The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:253634009|UMLS:C0345037 human_phenotype owl:Class HP:0011660 biolink:NamedThing Anomalous origin of one pulmonary artery from ascending aorta Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle. tmpxe7fu0cj_hp_relaxed.owl Hemitruncus UMLS:C4021134|Fyler:550|Fyler:0550 Origin of a pulmonary artery from the aorta is also known as hemitruncus. One pulmonary artery branch, usually the right, arises from the ascending aorta just above the aortic sinuses, while the main pulmonary artery and the other pulmonary branch arise in their normal position from the right ventricle. peter 2012-04-09T10:34:29Z human_phenotype owl:Class HP:0006051 biolink:NamedThing Metacarpal periosteal thickening tmpxe7fu0cj_hp_relaxed.owl UMLS:C1834347 human_phenotype owl:Class HP:0032040 biolink:NamedThing Abnormal ocular adnexa physiology A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. tmpxe7fu0cj_hp_relaxed.owl 2018-09-03 00:18:45+00:00 peter owl:Class HP:0032039 biolink:NamedThing Abnormality of the ocular adnexa An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. tmpxe7fu0cj_hp_relaxed.owl 2018-09-03 00:17:49+00:00 peter owl:Class HP:0030759 biolink:NamedThing Adipocyte hypertrophy An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy. tmpxe7fu0cj_hp_relaxed.owl Fat cell hypertrophy UMLS:C4280781 owl:Class PATO:0000599 biolink:NamedThing decreased width A width which is relatively small. tmpxe7fu0cj_hp_relaxed.owl narrow quality owl:Class HP:0001886 biolink:NamedThing Foot osteomyelitis An infection of bone of the foot. tmpxe7fu0cj_hp_relaxed.owl Foot bone infection UMLS:C4025737 human_phenotype owl:Class HP:0041114 biolink:NamedThing Fractured metaphysis of femur A partial or complete breakage of the metaphysis of femur. tmpxe7fu0cj_hp_relaxed.owl bone metaphysis of femur owl:Class HP:0100668 biolink:NamedThing Intestinal duplication A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine. tmpxe7fu0cj_hp_relaxed.owl Bowel duplication|Gut duplication UMLS:C4020702|SNOMEDCT_US:3845008|UMLS:C0266166 doelkens 2010-12-30T01:23:50Z human_phenotype owl:Class HP:0011140 biolink:NamedThing Gastrointestinal duplication A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus. tmpxe7fu0cj_hp_relaxed.owl GI duplication SNOMEDCT_US:33257003|UMLS:C0266019 peter 2011-06-25T09:02:50Z human_phenotype owl:Class UBERON:0001212 biolink:NamedThing duodenal gland A compound tubular submucosal gland found in that portion of the duodenum which is above the hepatopancreatic sphincter (Sphincter of Oddi). The main function of these glands is to produce a mucus-rich alkaline secretion (containing bicarbonate)[WP]. tmpxe7fu0cj_hp_relaxed.owl glandula duodenales Brunneri|submucosal gland of duodenum|glandula duodenales|Brunner's gland|gland of Brunner EMAPA:36522|MESH:A03.492.411.620.270.322|FMA:15060|MA:0001551|UMLS:C0006323|NCIT:C13010|GAID:314|BTO:0002376 currently defined as equivalent to any submucosal gland in the duodenum. uberon owl:Class Said to be absent outside mammlian (Andrew 1959) but Ziswiler and Farner (1972) noted similar glands at the gastroduodenal junction of some birds HP:0007215 biolink:NamedThing Periodic hyperkalemic paralysis Episodes of muscle weakness associated with elevated levels of potassium in the blood. tmpxe7fu0cj_hp_relaxed.owl Hyperkalemic periodic paralysis MSH:D020513|UMLS:C0238357|SNOMEDCT_US:304737009 human_phenotype owl:Class HP:0012519 biolink:NamedThing Hypoplastic posterior communicating artery Underdeveloped posterior communicating artery. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic posterior communicating arteries UMLS:C4020720 The posterior communicating arteries connect the internal carotid artery just proximal to its bifurcation into the anterior cerebral artery and middle cerebral artery with the posterior cerebral artery. The posterior communicating artery is part of the circle of Willis. peter 2013-12-09T07:06:12Z human_phenotype owl:Class GO:0008089 biolink:NamedThing anterograde axonal transport The directed movement of organelles or molecules along microtubules from the cell body toward the cell periphery in nerve cell axons. tmpxe7fu0cj_hp_relaxed.owl anterograde axon cargo transport biological_process owl:Class HP:0010130 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the innermost bone of the big toe UMLS:C4024029 doelkens 2009-05-29T01:22:23Z human_phenotype owl:Class HP:0007541 biolink:NamedThing Frontal cutaneous lipoma Presence of a cutaneous lipoma on the forehead. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850970|NCIT:C3192 human_phenotype owl:Class HP:0010299 biolink:NamedThing Abnormal dentin morphology Any abnormality of dentin. tmpxe7fu0cj_hp_relaxed.owl Abnormality of dentine|Dentin anomaly|Abnormal dentin|Abnormality of dentin UMLS:C4021299 Dentin is a calcified tissue of teeth that is covered by enamel on the crown and cementum on the root and surrounds the entire pulp. peter 2009-07-12T12:11:14Z owl:Class CHEBI:38856 biolink:NamedThing halophenol tmpxe7fu0cj_hp_relaxed.owl halophenols|halophenol chebi_ontology owl:Class HP:0010400 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the innermost bone of the 2nd toe UMLS:C4023854 doelkens 2009-07-16T11:58:15Z human_phenotype owl:Class HP:0100931 biolink:NamedThing Sclerosis of the proximal phalanx of the 2nd toe An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the innermost bone of the 2nd toe UMLS:C4021927 human_phenotype owl:Class CHEBI:60004 biolink:NamedThing mixture A mixture is a chemical substance composed of multiple molecules, at least two of which are of a different kind. tmpxe7fu0cj_hp_relaxed.owl Mischung chebi_ontology owl:Class HP:0001694 biolink:NamedThing Right-to-left shunt Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:79692001|UMLS:C0428871 human_phenotype owl:Class HP:0009932 biolink:NamedThing Single naris The presence of only a single nostril. tmpxe7fu0cj_hp_relaxed.owl One nostril|Single nostril|Mono nostril|Single nare UMLS:C0685682|SNOMEDCT_US:95266003 The single opening may occur in the midline or it can occur on one side, that is, it can be symmetric or asymmetric. Although the columella is invariably absent, this is implicit and does not need to be separately specified. peter 2009-05-10T10:33:56Z human_phenotype owl:Class HP:0005288 biolink:NamedThing Abnormality of the nares Abnormality of the nostril. tmpxe7fu0cj_hp_relaxed.owl Deformity of the nares|Deformity of the nostrils|Abnormality of the nostrils|Malformation of the nares|Malformation of the nostrils|Anomaly of the nares UMLS:C4021637 peter 2008-03-26T06:04:00Z human_phenotype owl:Class CHEBI:67142 biolink:NamedThing nucleobase analogue A molecule that can substitute for a normal nucleobase in nucleic acids. tmpxe7fu0cj_hp_relaxed.owl base analogue|base analog|base analogs|nucleobase analogues|base analogues|nucleobase analog|nucleobase analogs Wikipedia:Base_analog chebi_ontology owl:Class HP:0006189 biolink:NamedThing Prominent interdigital folds tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866000 human_phenotype owl:Class HP:0031548 biolink:NamedThing Follicular infundibulum tumor A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma. tmpxe7fu0cj_hp_relaxed.owl Follicular infundibulum tumour|Basal cell hamartoma with follicular differentiation 2017-09-24 23:07:25+00:00 peter owl:Class HP:0030406 biolink:NamedThing Primary peritoneal carcinoma A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1514428 owl:Class HP:0033696 biolink:NamedThing Pseudo-chilblain Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet. tmpxe7fu0cj_hp_relaxed.owl Chilblain-like lesion 2021-03-07 23:03:37+00:00 This condition is termed pseudo-chilblain because of the similar appearance of these lesions to chilblains. Pseudochilblains may be observed in persons with COVID-19 without documented exposure to cold or other risk factors for chilblains. peter owl:Class HP:0041240 biolink:NamedThing Fractured phalanx of pes A partial or complete breakage of the phalanx of pes. tmpxe7fu0cj_hp_relaxed.owl bone phalanx of pes owl:Class GO:1903045 biolink:NamedThing neural crest cell migration involved in sympathetic nervous system development Any neural crest cell migration that is involved in sympathetic nervous system development. tmpxe7fu0cj_hp_relaxed.owl Sema3a (O08665, mouse) is involved in neural crest cell migration involved in sympathetic nervous system development rl 2014-05-22T07:06:02Z biological_process owl:Class UBERON:0009885 biolink:NamedThing interlobar artery An artery that supplies a renal lobe. tmpxe7fu0cj_hp_relaxed.owl interlobar arteries of kidney|set of interlobar arteries of kidney|kidney interlobar artery|arteriae interlobares renis|renal interlobar artery|interlobar artery of kidney FMA:71637|EMAPA:37091 Kidney:PioM.png uberon owl:Class FMA only has the set term PATO:0001874 biolink:NamedThing discoid A shape quality inhering in a bearer by virtue of the bearer's being cylindrical, in which the height is less than the diameter. tmpxe7fu0cj_hp_relaxed.owl disc-shaped|disk-shaped quality owl:Class HP:0003038 biolink:NamedThing Fibular hypoplasia Underdevelopment of the fibula. tmpxe7fu0cj_hp_relaxed.owl Short fibula|Hypoplastic fibula|Short fibulae|Short calf bone UMLS:C1832119 HP:0002985|HP:0006401|HP:0005887 human_phenotype owl:Class HP:0004607 biolink:NamedThing Anterior beaking of lower thoracic vertebrae Anterior tongue-like protrusions of the lower thoracic vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025306 human_phenotype owl:Class HP:0003828 biolink:NamedThing Variable expressivity A variable severity of phenotypic features. tmpxe7fu0cj_hp_relaxed.owl Variable severity|Highly variable severity UMLS:C1866862|UMLS:C1861403 This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. HP:0003825|HP:0003814 human_phenotype owl:Class HP:0007146 biolink:NamedThing Bilateral basal ganglia lesions tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024932 human_phenotype owl:Class HP:0034088 biolink:NamedThing Anti-Ku antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 02:37:48+00:00 peter owl:Class HP:0012051 biolink:NamedThing Reactive hypoglycemia Hypoglycermia following a meal (or more generally, after intake of glucose). tmpxe7fu0cj_hp_relaxed.owl Postprandial hypoglycemia|Low blood sugar after a meal SNOMEDCT_US:237638000|UMLS:C0271710|MSH:D007003|SNOMEDCT_US:317006 Reactive hypoglycemia may be the result of an exaggerated insulin response. peter 2012-08-01T12:57:57Z human_phenotype owl:Class MAXO:0010204 biolink:NamedThing liver ultrasonography The use of ultrasound to produce images of structures in the liver. tmpxe7fu0cj_hp_relaxed.owl ultrasonography of liver|liver sonography|liver ultrasound examination|liver ultrasound procedure|liver medical ultrasound|sonography of liver|liver ultrasound imaging procedure|liver diagnostic sonography 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-2965 owl:Class UBERON:0005277 biolink:NamedThing dorsal skin of toe A dorsal skin of digit that is part of a pedal digit. tmpxe7fu0cj_hp_relaxed.owl subdivision of skin of dorsal part of toe|dorsal toe skin|skin of dorsal part of toe FMA:60523|FMA:37868 uberon owl:Class this class is explicitly the union of the two FMA classes HP:0008421 biolink:NamedThing Tall lumbar vertebral bodies tmpxe7fu0cj_hp_relaxed.owl UMLS:C1863313 human_phenotype owl:Class HP:0032214 biolink:NamedThing Increased urinary transitional epithelial cell count An increased number of transitional epithelial cells per high-power field in urinanalysis. tmpxe7fu0cj_hp_relaxed.owl 2019-01-20 21:07:33+00:00 Transitional epithelial cells can be found in urinary tract starting from the renal pelvis down the ureters to the bladder and the proximal urethra. peter owl:Class HP:0032211 biolink:NamedThing Increased urinary epithelial cell count An increased number of epithelial cells per high-power field in urinanalysis. tmpxe7fu0cj_hp_relaxed.owl 2019-01-20 21:01:58+00:00 There are three types of epithelial cells that are encountered upon urinalysis, squamous, renal tubular, and transitional. peter owl:Class HP:0004377 biolink:NamedThing Hematological neoplasm Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). tmpxe7fu0cj_hp_relaxed.owl Blood tumour|Haematological neoplasm|Blood tumor SNOMEDCT_US:269475001|UMLS:C0376545|MSH:D019337|SNOMEDCT_US:129154003 peter 2008-03-18T07:44:00Z owl:Class UBERON:0011320 biolink:NamedThing ligament of temporomandibular joint tmpxe7fu0cj_hp_relaxed.owl temporomandibular joint ligament FMA:57070 uberon owl:Class GO:0002018 biolink:NamedThing renin-angiotensin regulation of aldosterone production tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0011919 biolink:NamedThing Pleural empyema Accumulation of pus in the pleural cavity. tmpxe7fu0cj_hp_relaxed.owl Pyothorax MSH:D016724|SNOMEDCT_US:405951008|SNOMEDCT_US:58554001|UMLS:C0014013|SNOMEDCT_US:405950009 peter 2012-06-08T07:13:41Z human_phenotype owl:Class GO:0098907 biolink:NamedThing regulation of SA node cell action potential Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination in an SA node cardiac myocyte. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpxe7fu0cj_hp_relaxed.owl regulation of SA node cardiac muscle cell action potential|regulation of sinoatrial node cardiac muscle cell action potential|regulation of sinus node cardiac muscle cell action potential|regulation of SAN cardiac muscle cell action potential tb 2011-11-10T08:50:15Z biological_process owl:Class GO:0098876 biolink:NamedThing vesicle-mediated transport to the plasma membrane The directed movement of substances to the plasma membrane in transport vesicles that fuse with the plasma membrane by exocytosis. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0007508 biolink:NamedThing Punctate palmar hyperkeratosis Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024857 human_phenotype owl:Class HP:0010765 biolink:NamedThing Palmar hyperkeratosis Abnormal thickening of the skin localized to the palm of the hand. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023710 peter 2010-04-24T03:53:19Z owl:Class GO:0046716 biolink:NamedThing muscle cell cellular homeostasis The cellular homeostatic process that preserves a muscle cell in a stable functional or structural state. tmpxe7fu0cj_hp_relaxed.owl muscle fiber maintenance|muscle homeostasis biological_process owl:Class HP:0005184 biolink:NamedThing Prolonged QTc interval A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1560305 human_phenotype owl:Class HP:0001657 biolink:NamedThing Prolonged QT interval Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). tmpxe7fu0cj_hp_relaxed.owl Long Q-T syndrome|Long QT syndrome|Prolong qt interval on ekg SNOMEDCT_US:111975006|UMLS:C0151878 The QT interval represents electrical depolarization and repolarization of the left and right ventricles. human_phenotype owl:Class GO:1900449 biolink:NamedThing regulation of glutamate receptor signaling pathway Any process that modulates the frequency, rate or extent of glutamate receptor signaling pathway. tmpxe7fu0cj_hp_relaxed.owl regulation of glutamate signalling pathway|regulation of glutamate signaling pathway rl 2012-04-27T03:45:43Z biological_process owl:Class HP:0011428 biolink:NamedThing Short fetal femur length A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). tmpxe7fu0cj_hp_relaxed.owl Short fetal thigh bone length|Short foetal thigh bone length|Short foetal femur length UMLS:C0743924 peter 2012-03-17T07:05:40Z owl:Class HP:0008968 biolink:NamedThing Muscle hypertrophy of the lower extremities Muscle hypertrophy primarily affecting the legs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850663 human_phenotype owl:Class HP:0030586 biolink:NamedThing Abnormal Ishihara plate test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073059 owl:Class HP:0032048 biolink:NamedThing Focal cortical dysplasia type Ia A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 11:03:23+00:00 peter owl:Class GO:0042470 biolink:NamedThing melanosome A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Melanosome cellular_component owl:Class HP:0003944 biolink:NamedThing Narrow joint spaces of the elbow tmpxe7fu0cj_hp_relaxed.owl Narrow joint spaces of the elbow UMLS:C4025490 human_phenotype owl:Class HP:0003943 biolink:NamedThing Abnormality of the joint spaces of the elbow tmpxe7fu0cj_hp_relaxed.owl Abnormality of the joint spaces of the elbow UMLS:C4025491 human_phenotype owl:Class GO:0006974 biolink:NamedThing cellular response to DNA damage stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. tmpxe7fu0cj_hp_relaxed.owl response to genotoxic stress|DNA damage response|response to DNA damage stimulus|cellular DNA damage response GO:0034984 biological_process owl:Class GO:0033554 biolink:NamedThing cellular response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpxe7fu0cj_hp_relaxed.owl Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class HP:0012512 biolink:NamedThing Diffuse optic disc pallor A pale yellow discoloration of the entire optic disc. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022870 Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head. peter 2013-12-08T09:02:25Z human_phenotype owl:Class HP:0000543 biolink:NamedThing Optic disc pallor A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. tmpxe7fu0cj_hp_relaxed.owl Optic disc pallor|Pale optic disc|Disc pallor|Pale optic discs|Optic disk pallor|Pale optic disk UMLS:C0554970|SNOMEDCT_US:302200001 Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white. HP:0001484|HP:0001148 owl:Class HP:0007780 biolink:NamedThing Cortical pulverulent cataract A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens. tmpxe7fu0cj_hp_relaxed.owl Cataracts, cortical pulverulent UMLS:C4021568 human_phenotype owl:Class HP:0010693 biolink:NamedThing Pulverulent cataract A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. tmpxe7fu0cj_hp_relaxed.owl Pulverulent cataract UMLS:C1833118|MSH:C563426 The word "pulverulent " means dust-like and refers to the dustlike appearance of the punctate opacities in this type of cataract. The word pulverulent refers to the very small size of the punctate opacities (like flecks of dust) rather than to a dust-like color. peter 2010-03-11T02:49:53Z human_phenotype owl:Class HP:0030366 biolink:NamedThing Delivery by Odon device The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072905 owl:Class HP:0000470 biolink:NamedThing Short neck Diminished length of the neck. tmpxe7fu0cj_hp_relaxed.owl Decreased length of neck|Decreased cervical height|Short neck|Cervical shortening|Decreased cervical length SNOMEDCT_US:95427009|UMLS:C0521525 HP:0005992|HP:0200137 owl:Class HP:0030546 biolink:NamedThing Unaided visual acuity 1.1 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073020 owl:Class HP:0006179 biolink:NamedThing Pseudoepiphyses of second metacarpal tmpxe7fu0cj_hp_relaxed.owl Pseudoepiphysis of the 2nd metacarpal|Extra bone on end of second long bone of hand UMLS:C1862693 HP:0010221 human_phenotype owl:Class HP:0008278 biolink:NamedThing Cerebellar cortical atrophy Atrophy (wasting) of the cerebellar cortex. tmpxe7fu0cj_hp_relaxed.owl Cerebellar cortex degeneration UMLS:C4024710 Cerebellar cortical atrophy may be associated with vacuolated or binucleated Purkinje cells. owl:Class HP:0033717 biolink:NamedThing EEG with temporal epileptiform discharges Focal epileptiform EEG discharges recorded in the temporal region. tmpxe7fu0cj_hp_relaxed.owl 2021-04-07 12:56:30+00:00 peter owl:Class HP:0002188 biolink:NamedThing Delayed CNS myelination Delayed myelination in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl Delay in central nervous system myelination UMLS:C4021758 A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood. HP:0006974|HP:0005770|HP:0007300 human_phenotype owl:Class HP:0033297 biolink:NamedThing Multinucleated visceral epithelial cells Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. tmpxe7fu0cj_hp_relaxed.owl Multinucleated podocytes|Podocyte multinucleation 2020-11-28 21:38:10+00:00 peter owl:Class HP:0006580 biolink:NamedThing Portal fibrosis Fibroblast proliferation and fiber expansion from the portal areas to the lobule. tmpxe7fu0cj_hp_relaxed.owl Portal fibrosis shown on biopsy UMLS:C2677002|UMLS:C3805083 Portal fibrosis can be seen in viral hepatitis and other types of liver disease. human_phenotype owl:Class HP:0040062 biolink:NamedThing Slender radius tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968813 HPO:skoehler owl:Class HP:0003100 biolink:NamedThing Slender long bone Reduced diameter of a long bone. tmpxe7fu0cj_hp_relaxed.owl Slender, gracile long tubular bones|Thin, gracile long bones|Long bones slender|Slender long bones|Thin long bones|Gracile long bones|Slender long bone|Thin gracile long bones UMLS:C1833144 HP:0003060|HP:0003061|HP:0003096|HP:0005064 human_phenotype owl:Class HP:0034123 biolink:NamedThing Anti-GQ1b IgM antibody positivity The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:44:38+00:00 peter owl:Class UBERON:0008878 biolink:NamedThing palmar part of manus tmpxe7fu0cj_hp_relaxed.owl palm|palm of hand|regio palmaris|palmar region|front of hand galen:Palm|FMA:24920|NCIT:C33252|UMLS:C0931849 uberon owl:Class HP:0010723 biolink:NamedThing Cystic lesions of the pinnae tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023720 sdoelken 2010-04-20T10:17:01Z HP:0008557 human_phenotype owl:Class HP:0030320 biolink:NamedThing Increased intervertebral space An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022513 owl:Class UBERON:0003433 biolink:NamedThing arm nerve A nerve that is part of an arm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl brachial region nerve|nerve of arm|nerve of brachial region EMAPA:37336|MA:0000595 uberon owl:Class HP:0001510 biolink:NamedThing Growth delay A deficiency or slowing down of growth pre- and postnatally. tmpxe7fu0cj_hp_relaxed.owl Very poor growth|Retarded growth|Growth failure|Growth retardation|Growth delay|Poor growth|Delayed growth|Growth deficiency UMLS:C0878787|UMLS:C1837385|SNOMEDCT_US:59576002|UMLS:C3552463|SNOMEDCT_US:276617005|SNOMEDCT_US:444896005|UMLS:C0456070|UMLS:C0151686 Poor or abnormally slow gains in weight or height in a child. HP:0008870|HP:0001512|HP:0001514|HP:0008926|HP:0008893|HP:0001532|HP:0008847|HP:0001517|HP:0008886|HP:0001434 owl:Class GO:1903941 biolink:NamedThing negative regulation of respiratory gaseous exchange Any process that stops, prevents or reduces the frequency, rate or extent of respiratory gaseous exchange. tmpxe7fu0cj_hp_relaxed.owl inhibition of respiratory gaseous exchange|down-regulation of respiratory gaseous exchange|down regulation of respiratory gaseous exchange|downregulation of respiratory gaseous exchange sl 2015-02-17T20:26:24Z biological_process owl:Class HP:0100206 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the outermost bone of the little toe|Fragmentation of the end part of the outermost bone of the pinky toe|Fragmentation of the end part of the outermost bone of the pinkie toe UMLS:C4022215 doelkens 2010-06-24T05:03:31Z human_phenotype owl:Class HP:0006016 biolink:NamedThing Delayed phalangeal epiphyseal ossification Delay in the process of formation and maturation of the epiphysis of one or more phalanx. tmpxe7fu0cj_hp_relaxed.owl Delayed phalangeal epiphyseal bone maturation|Delayed bone maturation of end part of digital bone UMLS:C4021609 human_phenotype owl:Class CHEBI:35679 biolink:NamedThing antilipemic drug A substance used to treat hyperlipidemia (an excess of lipids in the blood). tmpxe7fu0cj_hp_relaxed.owl hypolipidemic agents|antilipemic|antihyperlipidaemic drugs|antihyperlipemics|antihyperlipidaemic drug|antihyperlipemic|antihyperlipidemic agents|antilipemics|hypolipidemic agent|antihyperlipidemic drugs|lipid-lowering agent|lipid-lowering agents|lipid-lowering drugs|antihyperlipidemics|antihyperlipidemic drug|antihyperlipidemic|antihyperlipidemic agent|lipid-lowering drug|antilipemic drugs|antihyperlipidaemic agent|antihyperlipidaemic agents Wikipedia:Hypolipidemic_agent chebi_ontology owl:Class UBERON:0005567 biolink:NamedThing rhombomere 1 lateral wall A rhombomere lateral wall that is part of a rhombomere 1. tmpxe7fu0cj_hp_relaxed.owl lateral wall rhombomere 1 EMAPA:16482|EHDAA2:0001641|TAO:0000781|ZFA:0000781 uberon owl:Class UBERON:0005501 biolink:NamedThing rhombomere lateral wall A neural tube lateral wall that is part of a rhombomere. tmpxe7fu0cj_hp_relaxed.owl future hindbrain lateral wall EMAPA:32819|EMAPA:35364 uberon owl:Class UBERON:0035371 biolink:NamedThing retroperitoneal lymph node A lymph node located in the retroperitoneal space. tmpxe7fu0cj_hp_relaxed.owl retroperitoneal node FMA:16694|NCIT:C98189 uberon owl:Class HP:0003208 biolink:NamedThing Fingerprint intracellular accumulation of autofluorescent lipopigment storage material An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern. tmpxe7fu0cj_hp_relaxed.owl 'Fingerprint profiles' ultrastructurally in cells|Fingerprint profiles ultrastructurally UMLS:C1836851 human_phenotype owl:Class UBERON:0004001 biolink:NamedThing olfactory bulb layer tmpxe7fu0cj_hp_relaxed.owl cytoarchitectural part of olfactory bulb EMAPA:37917|NLXANAT:20090402 TODO - check isa parentage uberon owl:Class HP:0008433 biolink:NamedThing Reversed usual vertebral column curves tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024676 owl:Class HP:0002868 biolink:NamedThing Narrow iliac wing Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). tmpxe7fu0cj_hp_relaxed.owl Narrow iliac wings UMLS:C1836688 owl:Class HP:0002865 biolink:NamedThing Medullary thyroid carcinoma The presence of a medullary carcinoma of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Medullary thyroid cancer NCIT:C3879|SNOMEDCT_US:128916007|MSH:C536914|UMLS:C0238462|SNOMEDCT_US:255032005 human_phenotype owl:Class HP:0033682 biolink:NamedThing Pleomorphic xanthoastrocytoma Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth. tmpxe7fu0cj_hp_relaxed.owl 2021-03-06 13:14:42+00:00 peter owl:Class HP:0011782 biolink:NamedThing Thyroid crisis tmpxe7fu0cj_hp_relaxed.owl MSH:D013958|UMLS:C0040127|SNOMEDCT_US:29028009 peter 2012-04-22T06:10:37Z human_phenotype owl:Class HP:0007761 biolink:NamedThing Pericentral scotoma A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:404650002|UMLS:C1321308 human_phenotype owl:Class HP:0000575 biolink:NamedThing Scotoma A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision. tmpxe7fu0cj_hp_relaxed.owl Blind spot SNOMEDCT_US:23388006|UMLS:C0344233|SNOMEDCT_US:81016008|UMLS:C0036454|MSH:D012607|MSH:D009898 human_phenotype owl:Class HP:0410318 biolink:NamedThing Decreased urinary 3-methylhistidine Decreased concentration of 3-methylhistidine in the urine. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0410316 biolink:NamedThing Abnormal urinary 3-methylhistidine level Abnormal amount of 3-methylhistidine in the urine. tmpxe7fu0cj_hp_relaxed.owl 3-Methylhistidine is an analog of histidine found mainly in skeletal muscle. The rate of myofibrillar protein breakdown may be estimated from the urinary excretion of 3-methylhistidine. This amino acid is formed by the methylation of peptide-bound histidine in actin and myosin, is excreted in the urine when these proteins are broken down, and is not reused for protein synthesis. owl:Class HP:0031820 biolink:NamedThing Decreased waist to hip ratio Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. tmpxe7fu0cj_hp_relaxed.owl Decreased waist-to-hip ratio|Decreased waist-hip ratio|Decreased WHR 2018-05-01 02:11:00+00:00 peter owl:Class HP:0031818 biolink:NamedThing Abnormal waist to hip ratio A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement. tmpxe7fu0cj_hp_relaxed.owl 2018-05-01 02:06:09+00:00 peter owl:Class HP:0002642 biolink:NamedThing Arteriovenous fistulas of celiac and mesenteric vessels tmpxe7fu0cj_hp_relaxed.owl Arteriovenous fistulas of coeliac and mesenteric vessels UMLS:C1857693 human_phenotype owl:Class CHEBI:74223 biolink:NamedThing pyrrolidin-2-ones A pyrrolidinone in which the oxo group is at position 2 of the pyrrolidine ring. tmpxe7fu0cj_hp_relaxed.owl 2-pyrrolidones|2-pyrrolidinones|pyrrolidine-2-ones 0 C4NOR7 78.04890 77.99799 [*]N1C(=O)C([*])([*])C([*])([*])C1([*])[*] chebi_ontology owl:Class CHEBI:74222 biolink:NamedThing gamma-lactam A lactam in which the amide bond is contained within a five-membered ring, which includes the amide nitrogen and the carbonyl carbon. tmpxe7fu0cj_hp_relaxed.owl gamma-lactams chebi_ontology owl:Class HP:0030568 biolink:NamedThing Best corrected visual acuity 3.0 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073041 owl:Class CHEBI:38313 biolink:NamedThing diazines Any organic heterocyclic compound containing a benzene ring in which two of the C-H fragments have been replaced by isolobal nitrogens (the diazine parent structure). tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0007390 biolink:NamedThing Hyperkeratosis with erythema tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024891 human_phenotype owl:Class CHEBI:136889 biolink:NamedThing 5beta steroid Any steroid that has beta-configuration at position 5. tmpxe7fu0cj_hp_relaxed.owl 5beta-steroids|5beta-steroid|5beta steroids chebi_ontology owl:Class HP:0006323 biolink:NamedThing Premature loss of primary teeth Loss of the primary (also known as deciduous) teeth before the usual age. tmpxe7fu0cj_hp_relaxed.owl Premature deciduous tooth loss|Premature exfoliation of deciduous teeth|Early loss of baby teeth|Early loss of deciduous teeth|Premature exfoliation of primary teeth|Early loss of primary teeth|Premature loss of deciduous teeth|Premature loss of baby teeth UMLS:C0266052|SNOMEDCT_US:122483006|SNOMEDCT_US:39034005 The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. With premature loss of primary teeth, there is a delay between the loss of the primary teeth and the eruption of the permanent teeth. HP:0006351|HP:0006319 human_phenotype owl:Class HP:0030149 biolink:NamedThing Cardiogenic shock Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume. tmpxe7fu0cj_hp_relaxed.owl Cardiovascular shock MSH:D012770|UMLS:C0036980|SNOMEDCT_US:89138009 Cardiogenic shock can result from a number of different of cardiac insults, the most common of which is acute myocardial infarction. owl:Class HP:0031273 biolink:NamedThing Shock The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 20:50:38+00:00 peter owl:Class HP:0011200 biolink:NamedThing EEG with generalized polymorphic epileptiform discharges Generalized epileptiform discharges of different shapes and frequencies. tmpxe7fu0cj_hp_relaxed.owl EEG with generalised polymorphic epileptiform discharges UMLS:C4023474 hecht 2011-11-19T11:19:04Z human_phenotype owl:Class HP:0410311 biolink:NamedThing Hyposegmentation of neutrophil nuclei in CSF Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Hyposegmentation of neutrophil nuclei in cerebrospinal fluid owl:Class HP:0410310 biolink:NamedThing Abnormality of neutrophil morphology in CSF An abnormal form or size of neutrophils in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormality of neutrophil morphology in cerebrospinal fluid owl:Class UBERON:0018532 biolink:NamedThing female deep inguinal ring A deep inguinal ring that is part of a male reproductive system. tmpxe7fu0cj_hp_relaxed.owl female internal inguinal ring EMAPA:19173|MA:0003251 uberon owl:Class UBERON:0013721 biolink:NamedThing deep inguinal ring The entrance to the inguinal canal. tmpxe7fu0cj_hp_relaxed.owl annulus inguinalis profundus|internal inguinal ring|abdominal inguinal ring|internal abdominal ring|internal ring NCIT:C32832|FMA:19927 uberon owl:Class HP:0012533 biolink:NamedThing Allodynia Pain due to a stimulus that does not normally provoke pain. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:247404004|MSH:D006930|UMLS:C0458247 peter 2013-12-15T09:47:40Z human_phenotype owl:Class HP:0008326 biolink:NamedThing Reduced circulating vitamin B6 level An abnormally decreased concentration of vitamin B6 in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Reduced vitamin b6 levels|Vitamin B6 deficiency SNOMEDCT_US:386080007|UMLS:C0936215|MSH:D026681 human_phenotype owl:Class HP:0032476 biolink:NamedThing Abnormal circulating vitamin B6 level An abnormal concentration of vitamin B6 in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 12:06:29+00:00 peter owl:Class HP:0006716 biolink:NamedThing Hereditary nonpolyposis colorectal carcinoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024989 human_phenotype owl:Class HP:0031214 biolink:NamedThing Decreased circulating dehydroepiandrosterone concentration tmpxe7fu0cj_hp_relaxed.owl Decreased circulating dehydroepiandrosterone level 2017-07-02 11:29:06+00:00 A reduced concentration of dehydroepiandrosterone in the blood. dehydroepiandrosterone is a weak androgen produced by the adrenal glands in both males and females. peter owl:Class HP:0500022 biolink:NamedThing Abnormal circulating dehydroepiandrosterone concentration A deviation from the normal concentration of dehydroepiandrosterone in the circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal serum DHEA|Abnormal serum androstenolone level|Abnormal serum dehydroepiandrosterone level 2017-05-18 19:38:52+00:00 Dehydroepiandrosterone (DHEA), which is produced in the adrenal glands and the gonads, represents the most abundant circulating steroid hormone. It is a metabolic intermediate in the biosynthesis of the androgen and estrogen sex steroids. ORCID:0000-0001-7941-2961 owl:Class GO:0006757 biolink:NamedThing ATP generation from ADP The process of introducing a phosphate group into ADP, adenosine diphosphate, to produce ATP. tmpxe7fu0cj_hp_relaxed.owl ADP phosphorylation biological_process owl:Class GO:0010718 biolink:NamedThing positive regulation of epithelial to mesenchymal transition Any process that increases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition is where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009908 biolink:NamedThing Anterior creases of earlobe Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe. tmpxe7fu0cj_hp_relaxed.owl Earlobe crease|Transverse earlobe creases UMLS:C1851897 Shallow grooves or indentations are quite common, especially in large lobes. Ear lobe creases may arise postnatally. Posterior helical pits can be a related finding but should be assessed and coded separately. peter 2009-05-01T03:00:22Z HP:0008604 owl:Class HP:0500113 biolink:NamedThing Positive urine opioid test Detection of opioids or opioid metabolites in urine. tmpxe7fu0cj_hp_relaxed.owl 2018-06-25 17:20:19+00:00 Opiates are the natural or synthetic drugs that have a morphine-like pharmacological action. Medically, opiates are used primarily for relief of pain. Opiates include morphine and drugs structurally similar to morphine (eg, codeine, hydrocodone, hydromorphone, oxycodone). owl:Class CL:0002333 biolink:NamedThing neural crest derived fat cell A fat cell derived from a neural crest cell. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2010-09-20T02:25:25Z cell owl:Class HP:0011000 biolink:NamedThing Aplasia/Hypoplasia of the optic tract tmpxe7fu0cj_hp_relaxed.owl Absent/small optic tract|Absent/underdeveloped optic tract UMLS:C4023602 sdoelken 2011-02-13T11:28:43Z owl:Class PATO:0000921 biolink:NamedThing width A 1-D extent quality which is equal to the distance from one side of an object to another side which is opposite. tmpxe7fu0cj_hp_relaxed.owl breadth quality owl:Class HP:0005832 biolink:NamedThing Dysharmonic delayed bone age A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859444 HP:0005840 human_phenotype owl:Class HP:0002750 biolink:NamedThing Delayed skeletal maturation A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. tmpxe7fu0cj_hp_relaxed.owl Retarded bone age|Retarded ossification|Skeletal maturation retardation|Delayed skeletal development|Delayed bone maturation|Delayed bone age before puberty|Delayed bone age SNOMEDCT_US:123983008|UMLS:C0541764 HP:0000928|HP:0002806 human_phenotype owl:Class HP:0032806 biolink:NamedThing Focal impaired awareness sensory seizure with visual features A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0032997 biolink:NamedThing Fc receptor complex A protein complex composed of a subunit or subunits capable of binding the Fc portion of an immunoglobulin with additional signaling components. The complex functions as a receptor for immunoglobulin. tmpxe7fu0cj_hp_relaxed.owl immunoglobulin receptor complex|Fc-receptor complex|FcR complex cellular_component owl:Class GO:0035112 biolink:NamedThing genitalia morphogenesis The process in which the anatomical structures of genitalia are generated and organized. The genitalia are the organs of reproduction or generation, external and internal. tmpxe7fu0cj_hp_relaxed.owl genital morphogenesis biological_process owl:Class UBERON:0003119 biolink:NamedThing pharyngeal arch artery 2 The vessels formed within the second pair of branchial arches in embryogenesis. tmpxe7fu0cj_hp_relaxed.owl 2nd aortic arch artery|second branchial arch artery|AA2|aortic arch 2|2nd pharyngeal arch artery|2nd arch artery|2nd branchial arch artery|hyoid aortic arch|second aortic arch EHDAA2:0000051|TAO:0005006|XAO:0000343|ZFA:0005006|EMAPA:16686|SCTID:308775002|Wikipedia:Aortic_arches#Arches_1_and_2|VHOG:0000148|EMAPA:16203|AAO:0010418 UBERON:0004372 uberon owl:Class The first and second arches disappear early, but the dorsal end of the second gives origin to the stapedial artery, a vessel which atrophies in humans but persists in some mammals. It passes through the ring of the stapes and divides into supraorbital, infraorbital, and mandibular branches which follow the three divisions of the trigeminal nerve. The infraorbital and mandibular arise from a common stem, the terminal part of which anastomoses with the external carotid. On the obliteration of the stapedial artery this anastomosis enlarges and forms the internal maxillary artery, and the branches of the stapedial artery are now branches of this vessel. The common stem of the infraorbital and mandibular branches passes between the two roots of the auriculotemporal nerve and becomes the middle meningeal artery; the original supraorbital branch of the stapedial is represented by the orbital twigs of the middle meningeal[WP][Wikipedia:Aortic_arches#Arches_1_and_2].|The second in a series paired arterial connections between the dorsal and ventral aortae. Aortic arch 2 that is part of hyoid arch.[AAO] HP:0007561 biolink:NamedThing Telangiectases in sun-exposed and nonexposed skin tmpxe7fu0cj_hp_relaxed.owl UMLS:C1868184 human_phenotype owl:Class UBERON:0012236 biolink:NamedThing intercostal lymph node The intercostal lymph nodes (intercostal glands ) occupy the posterior parts of the intercostal spaces, in relation to the intercostal vessels. They receive the deep lymphatics from the postero-lateral aspect of the chest; some of these vessels are interrupted by small lateral intercostal glands. tmpxe7fu0cj_hp_relaxed.owl nodi lymphoidei intercostales|nodus intercostale|intercostal node FMA:5932|NCIT:C77652|UMLS:C0229761 uberon owl:Class HP:5000027 biolink:NamedThing Anti-P/Q-type VGCC antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs). tmpxe7fu0cj_hp_relaxed.owl Anti-P/Q-type voltage-gated calcium-channel antibody ORCID:0000-0002-3387-1836 owl:Class HP:0003276 biolink:NamedThing Pelvic bone exostoses A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage. tmpxe7fu0cj_hp_relaxed.owl Pelvic exostoses UMLS:C1844689 human_phenotype owl:Class CL:0000570 biolink:NamedThing parafollicular cell A neuroepithelial cells that occurs singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid. Expresses a form of the neural cell adhesion molecule (N-CAM) on their surface. Secretes calcitonin, 5-hydroxytryptamine and dopamine. tmpxe7fu0cj_hp_relaxed.owl thyroid parafollicular cell|parafollicular cell of thyroid gland|clear cell of thyroid gland|C cell of thyroid gland|C cell FMA:68653 cell owl:Class HP:0033257 biolink:NamedThing Delayed ability to walk with support A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage. tmpxe7fu0cj_hp_relaxed.owl Delayed ability to cruise 2020-11-27 19:39:48+00:00 peter owl:Class GO:2000147 biolink:NamedThing positive regulation of cell motility Any process that activates or increases the frequency, rate or extent of cell motility. tmpxe7fu0cj_hp_relaxed.owl positive regulation of cell locomotion|positive regulation of cell movement|positive regulation of movement of a cell mah 2010-10-01T09:41:30Z biological_process owl:Class HP:0008572 biolink:NamedThing External ear malformation A malformation of the auricle of the ear. tmpxe7fu0cj_hp_relaxed.owl External ear malformation UMLS:C1846460 HP:0008594 human_phenotype owl:Class HP:0031051 biolink:NamedThing Tarsal sclerosis An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl 2017-05-27 14:41:39+00:00 peter owl:Class HP:0000196 biolink:NamedThing Lower lip pit Depression located on the vermilion of the lower lip, usually paramedian. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861544 A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). human_phenotype owl:Class CL:1000309 biolink:NamedThing epicardial adipocyte A fat cell that is part of the epicardial fat. tmpxe7fu0cj_hp_relaxed.owl epicardial fat cell|adipocyte of epicardial fat FMA:261293 cell owl:Class HP:0011791 biolink:NamedThing Inactivating thyroid-stimulating hormone receptor defect Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect. tmpxe7fu0cj_hp_relaxed.owl Inactivating TSHR defect UMLS:C4023187 peter 2012-04-22T06:35:14Z human_phenotype owl:Class GO:1901210 biolink:NamedThing regulation of cardiac chamber formation Any process that modulates the frequency, rate or extent of cardiac chamber formation. tmpxe7fu0cj_hp_relaxed.owl regulation of heart chamber formation rl 2012-07-31T07:18:35Z biological_process owl:Class HP:0041060 biolink:NamedThing Chronic partially decreased circulating IgG4 A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood. tmpxe7fu0cj_hp_relaxed.owl Chronic partially decreased IgG4 in blood owl:Class GO:1901575 biolink:NamedThing organic substance catabolic process The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon. tmpxe7fu0cj_hp_relaxed.owl organic molecular entity breakdown|organic substance degradation|organic molecular entity catabolic process|organic substance breakdown|organic substance catabolism|organic molecular entity catabolism|organic molecular entity degradation pr 2012-11-05T11:04:36Z biological_process owl:Class HP:0032933 biolink:NamedThing Airway hyperresponsiveness An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0100318 biolink:NamedThing Lafora bodies An intraneuronal inclusion body composed of acid mucopolysaccharides. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0333749|SNOMEDCT_US:87554006 doelkens 2010-08-10T03:37:06Z human_phenotype owl:Class PR:Q12882 biolink:NamedThing dihydropyrimidine dehydrogenase [NADP(+)] (human) A dihydropyrimidine dehydrogenase [NADP(+)] that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl DPD (human)|dihydrothymine dehydrogenase (human)|dihydrouracil dehydrogenase (human)|DPYD|hDPYD|DHPDHase (human) UniProtKB:Q12882 Category=organism-gene. protein owl:Class PR:000006678 biolink:NamedThing dihydropyrimidine dehydrogenase [NADP(+)] A protein that is a translation product of the human DPYD gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl dihydrouracil dehydrogenase|DHPDHase|DPYD|dihydrothymine dehydrogenase|DPD Category=gene. protein owl:Class HP:0007431 biolink:NamedThing Congenital ichthyosiform erythroderma An ichthyosiform abnormality of the skin with congenital onset. tmpxe7fu0cj_hp_relaxed.owl Ichthyosis, congenital|Congenital ichthyosis MSH:D016113|UMLS:C0079583|SNOMEDCT_US:254156001|SNOMEDCT_US:268282005 HP:0007484|HP:0007478 human_phenotype owl:Class HP:0011602 biolink:NamedThing Midline direction of ventricular apex Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023273 peter 2012-04-08T02:47:52Z human_phenotype owl:Class HP:0011600 biolink:NamedThing Abnormal direction of ventricular apex Abnormal plane of direction of the heart from the base to the apex. Left sided is normal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023275 peter 2012-04-08T02:44:41Z owl:Class HP:0030318 biolink:NamedThing Angular cheilitis A type of inflammation of the lips involving one or both of the corners of the mouth. tmpxe7fu0cj_hp_relaxed.owl Inflammation of oral commisures|Angular cheilosis|Angular stomatitis|Commissural cheilitis|Inflammation of corners of the mouth|Red and sore corners of the mouth SNOMEDCT_US:266429005|UMLS:C0221237 owl:Class HP:0100825 biolink:NamedThing Cheilitis Inflammation of the lip. tmpxe7fu0cj_hp_relaxed.owl Red and sore lips|Inflammation of the lips UMLS:C4280288|SNOMEDCT_US:7847004|UMLS:C0007971|MSH:D002613 It is associated with many conditions, including megaloblastic anemia from vitamin B12 deficiency, iron deficiency anemia (which in severe cases can lead to Plummer-Vinson syndrome) and oral candidiasis. It can also be a symptom of allergies, such as allergy to Balsam of Peru. Cheilitis can also be caused by taking the (retinoid) drug Isotretinoin. It may also be a pre-malignant lesion for squamous cell carcinoma. doelkens 2011-06-09T05:18:41Z human_phenotype owl:Class HP:0100344 biolink:NamedThing Fibular deviation of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022136 doelkens 2010-11-11T03:44:07Z human_phenotype owl:Class HP:0000211 biolink:NamedThing Trismus Limitation in the ability to open the mouth. tmpxe7fu0cj_hp_relaxed.owl Decrease in mandibular movement|Pain of muscles of mastication|Limited jaw mobility|Limited mouth opening|Decrease in jaw movement|Decrease in jaw opening|Lockjaw|Decrease in jaw mobility|Limited jaw movement|Limited mandibular opening|Limited mandibular mobility|Decrease in mandibular mobility|Limited jaw opening|Decrease in mandibular opening UMLS:C4228933|UMLS:C1848474|UMLS:C0041105|SNOMEDCT_US:87866006|UMLS:C4280672|MSH:D014313 owl:Class HP:0410339 biolink:NamedThing Insect bite allergy Hypersensitivity in form of an adverse immune reaction against insect bites. tmpxe7fu0cj_hp_relaxed.owl Insect bite allergy|IgE-mediated insect bite allergy|Allergy to insect bites|Immunoglobulin E-mediated insect bite allergy owl:Class HP:0004729 biolink:NamedThing Acute tubulointerstitial nephritis Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843274|MSH:C564356 human_phenotype owl:Class PATO:0001020 biolink:NamedThing damage A structural quality inhering in a bearer by virtue of whether the bearer has been harmed or injured or spoiled. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0012530 biolink:NamedThing Abnormal number of dense granules A deviation from the normal count of dense granules per thrombocyte. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022861 peter 2013-12-15T09:12:55Z owl:Class CHEBI:32859 biolink:NamedThing valinate tmpxe7fu0cj_hp_relaxed.owl valinate|val(-)|valine anion|2-amino-3-methylbutanoate -1 C5H10NO2 InChI=1S/C5H11NO2/c1-3(2)4(6)5(7)8/h3-4H,6H2,1-2H3,(H,7,8)/p-1 KZSNJWFQEVHDMF-UHFFFAOYSA-M 116.13844 116.07170 CC(C)C(N)C([O-])=O Gmelin:49876 chebi_ontology owl:Class HP:0030101 biolink:NamedThing Absent muscle fiber alpha sarcoglycan Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Absent muscle fibre alpha sarcoglycan UMLS:C4022644 owl:Class HP:0030100 biolink:NamedThing Abnormal muscle fiber alpha sarcoglycan Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre alpha sarcoglycan UMLS:C4022645 owl:Class HP:0032437 biolink:NamedThing Reduced C-reactive protein level An abnormal decrease of the C-reactive protein level in serum. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 15:11:22+00:00 peter owl:Class HP:0032436 biolink:NamedThing Abnormal C-reactive protein level Any deviation from the normal concentration of C-reactive protein in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 15:10:11+00:00 C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation. peter owl:Class HP:0041155 biolink:NamedThing Fractured mandible A partial or complete breakage of the mandible. tmpxe7fu0cj_hp_relaxed.owl bone mandible owl:Class GO:0009057 biolink:NamedThing macromolecule catabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:3000065 biolink:NamedThing Abnormal lacrimal artery morphology An abnormality of a lacrimal artery. tmpxe7fu0cj_hp_relaxed.owl Abnormality of lacrimal artery UMLS:C4073272 vasilevs 2015-08-07T03:38:25Z human_phenotype owl:Class UBERON:0006531 biolink:NamedThing oculomotor muscle The muscles that move the eye. Included in this group are the medial rectus, lateral rectus, superior rectus, inferior rectus, inferior oblique, superior oblique, musculus orbitalis, and levator palpebrae superioris. tmpxe7fu0cj_hp_relaxed.owl NCIT:C33199|MESH:D009801|UMLS:C0028863|CALOHA:TS-0305|MA:0002432 uberon owl:Class we follow MA in making this a subclass of extra-ocular muscle but the distinction is not clear HP:0010861 biolink:NamedThing Incomplete breech presentation A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal. tmpxe7fu0cj_hp_relaxed.owl MSH:D001946|SNOMEDCT_US:38049006|UMLS:C0426146 peter 2010-08-03T12:34:57Z human_phenotype owl:Class HP:0001623 biolink:NamedThing Breech presentation A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. tmpxe7fu0cj_hp_relaxed.owl Breech presentation at birth|Feet or buttocks of foetus positioned near opening of uterus|Feet or buttocks of fetus positioned near opening of uterus SNOMEDCT_US:6096002|SNOMEDCT_US:249101006|UMLS:C0006157|MSH:D001946 human_phenotype owl:Class HP:0003162 biolink:NamedThing Fasting hypoglycemia tmpxe7fu0cj_hp_relaxed.owl Low blood sugar when fasting UMLS:C0271708|SNOMEDCT_US:6974005|MSH:D007003 human_phenotype owl:Class GO:0006801 biolink:NamedThing superoxide metabolic process The chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species. tmpxe7fu0cj_hp_relaxed.owl oxygen free radical metabolism|oxygen free radical metabolic process|superoxide metabolism|superoxide free radical metabolic process|superoxide free radical metabolism biological_process owl:Class HP:0002742 biolink:NamedThing Recurrent Klebsiella infections Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection. tmpxe7fu0cj_hp_relaxed.owl Klebsiella infections, recurrent UMLS:C4021751 human_phenotype owl:Class HP:0005420 biolink:NamedThing Recurrent gram-negative bacterial infections Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025198 Gram-negative bacteria have a unique outer membrane, a thinner layer of peptidoglycan compared to gram-positive bacteria, and a periplasmic space between the cell wall and the membrane. HP:0005395 human_phenotype owl:Class HP:0025081 biolink:NamedThing Darier's sign A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP. tmpxe7fu0cj_hp_relaxed.owl 2016-10-12 23:46:34+00:00 HPO:probinson owl:Class HP:0033123 biolink:NamedThing Elevated circulating osteopontin level Abnormally increased level of osteopontin in the blood circulation tmpxe7fu0cj_hp_relaxed.owl 2020-09-05 12:56:32+00:00 Osteopontin (OPN, also known as Eta-1) is a noncollagenous matrix protein produced by macrophages and T lymphocytes. Plasma OPN levels can be elevated in a range of diseases including tuberculosis and systemic lupus erythematosus. peter owl:Class PATO:0001628 biolink:NamedThing insufficient A wholeness quality inhering in a bearer by virtue of the bearer's lacks enough functionality. tmpxe7fu0cj_hp_relaxed.owl inadequate quality owl:Class PATO:0001626 biolink:NamedThing sufficiency A structural quality inhering in a bearer by virtue of whether the bearer has enough functionality. tmpxe7fu0cj_hp_relaxed.owl adequacy This term and children should probably be obsoleted. quality owl:Class GO:0097212 biolink:NamedThing lysosomal membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosomal membrane. A lysosomal membrane is the lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. tmpxe7fu0cj_hp_relaxed.owl lysosome membrane organization|lysosomal membrane organisation pr 2012-01-12T10:16:15Z biological_process owl:Class CL:0000347 biolink:NamedThing scleral cell A cell of the sclera of the eye. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class CL:0000293 biolink:NamedThing structural cell A cell whose primary function is to provide structural support, to provide strength and physical integrity to the organism. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0010852 biolink:NamedThing EEG with photoparoxysmal response EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns. tmpxe7fu0cj_hp_relaxed.owl Photoparoxysmal response on EEG UMLS:C3552821 In some patients, seizures can be provoked by specific external factors (reflex epilepsy), including flickering lights and patterns. These patients commonly show epileptiform discharges in the EEG when stimulated with flashing lights, black and white striped patterns and television. These evoked EEG abnormalities are called photoparoxysmal responses. peter 2010-07-11T08:10:17Z HP:0001330 human_phenotype owl:Class UBERON:0016426 biolink:NamedThing proximal interphalangeal joint of little finger tmpxe7fu0cj_hp_relaxed.owl FMA:35324 uberon owl:Class HP:0004876 biolink:NamedThing Spontaneous neonatal pneumothorax Pneumothorax occurring neonatally without traumatic injury to the chest or lung. tmpxe7fu0cj_hp_relaxed.owl Neonatal pneumothorax UMLS:C1857021 human_phenotype owl:Class HP:0040173 biolink:NamedThing Abnormality of the tongue muscle tmpxe7fu0cj_hp_relaxed.owl Abnormality of the tongue muscle|Abnormality of lingual muscle UMLS:C4073139 HPO:skoehler owl:Class CHEBI:24532 biolink:NamedThing organic heterocyclic compound A cyclic compound having as ring members atoms of carbon and at least of one other element. tmpxe7fu0cj_hp_relaxed.owl organic heterocycle|organic heterocyclic compounds chebi_ontology owl:Class NCBITaxon:119089 biolink:NamedThing Chromadorea tmpxe7fu0cj_hp_relaxed.owl Adenophorea GC_ID:1 NCBITaxon:27837 ncbi_taxonomy owl:Class HP:0032670 biolink:NamedThing Tonic status epilepticus Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal. tmpxe7fu0cj_hp_relaxed.owl This has most commonly been reported in children with neurocognitive impairment and severe epilepsy, such as Ohtahara syndrome or West syndrome and Lennox-Gastaut syndrome. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. peter owl:Class GO:0034097 biolink:NamedThing response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. tmpxe7fu0cj_hp_relaxed.owl response to cytokine stimulus biological_process owl:Class GO:0055023 biolink:NamedThing positive regulation of cardiac muscle tissue growth Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle growth. tmpxe7fu0cj_hp_relaxed.owl positive regulation of heart muscle growth|upregulation of cardiac muscle growth|stimulation of cardiac muscle growth|activation of cardiac muscle growth|up-regulation of cardiac muscle growth|up regulation of cardiac muscle growth biological_process owl:Class GO:0098974 biolink:NamedThing postsynaptic actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins in the postsynaptic actin cytoskeleton. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001536 biolink:NamedThing left common carotid artery plus branches The leftmost of the two common carotid arteries, originating from the aortic arch in the thorax. tmpxe7fu0cj_hp_relaxed.owl left common carotid artery|trunk of left common carotid tree UMLS:C0226087|OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rvg7rcJwpEbGdrcN5Y29ycA|SCTID:362043008|FMA:4058|Wikipedia:Left_common_carotid_artery|EMAPA:35491|NCIT:C32956|MA:0001927|OpenCyc:Mx4rdz4xcLVIEduAAAAOpmP6tw http://upload.wikimedia.org/wikipedia/commons/e/e6/Gray506.svg uberon owl:Class placement of the MA class here is not strictly correct, as the MA class does not include the branches HP:0100182 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the middle bone of the 4th toe UMLS:C4022239 doelkens 2010-06-24T04:54:13Z human_phenotype owl:Class HP:0004226 biolink:NamedThing Curved distal phalanx of the 5th finger Curved appearance of the distal phalanx of the 5th (little) finger. tmpxe7fu0cj_hp_relaxed.owl Curved outermost pinkie finger bone|Curved terminal phalanx of the little finger|Curved outermost little finger bone|Curved outermost pinky finger bone UMLS:C4021672 human_phenotype owl:Class HP:0100264 biolink:NamedThing Proximal symphalangism tmpxe7fu0cj_hp_relaxed.owl Cushing's symphalangism MSH:C536223|UMLS:C1861385 doelkens 2010-07-20T03:00:19Z human_phenotype owl:Class HP:0006288 biolink:NamedThing Advanced eruption of teeth Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. tmpxe7fu0cj_hp_relaxed.owl Eruption, advanced|Advanced dental eruption|Early eruption of teeth|Early dental eruption|Premature eruption of teeth|Premature dental eruption|Advanced tooth eruption|Premature tooth eruption UMLS:C0266054|SNOMEDCT_US:16000003 There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum. HP:0006317 owl:Class HP:0006292 biolink:NamedThing Abnormality of dental eruption An abnormality of tooth eruption. tmpxe7fu0cj_hp_relaxed.owl Anomaly of tooth eruption|Abnormal dental eruption|Abnormality of tooth eruption|Disorder of tooth eruption|Disturbance of dental eruption|Anomaly of dental eruption|Disturbance of tooth eruption|Disorder of dental eruption SNOMEDCT_US:1086101000119107|SNOMEDCT_US:234949000|UMLS:C1859363|UMLS:C3874458|UMLS:C0012767 The average ages for eruption of the primary teeth are: 6 months: lower central incisor, 7 months: upper central incisor, 8 months: upper lateral incisor, 9 months: lower lateral incisor, 12 months first molars, 18 months, canines, 2 years, second molars. owl:Class HP:0400004 biolink:NamedThing Long ear Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. tmpxe7fu0cj_hp_relaxed.owl Long ear|Long ears UMLS:C1848657 The commonly used term Macrotia is a bundled term comprising increased length and width (surface area). owl:Class GO:1904675 biolink:NamedThing regulation of somatic stem cell division Any process that modulates the frequency, rate or extent of somatic stem cell division. tmpxe7fu0cj_hp_relaxed.owl regulation of somatic stem cell renewal rph 2015-09-14T08:47:22Z biological_process owl:Class HP:0000878 biolink:NamedThing 11 pairs of ribs Presence of only 11 pairs of ribs. tmpxe7fu0cj_hp_relaxed.owl 11 pairs of ribs UMLS:C1839731 Normally, there are 12 pairs of ribs. human_phenotype owl:Class HP:0002507 biolink:NamedThing Semilobar holoprosencephaly A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0751617|MSH:D016142|SNOMEDCT_US:253138008 owl:Class HP:0001360 biolink:NamedThing Holoprosencephaly Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. tmpxe7fu0cj_hp_relaxed.owl Single brain ventricle MSH:D016142|Fyler:4338|UMLS:C0079541|SNOMEDCT_US:30915001 The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly. HP:0009807 owl:Class HP:0033869 biolink:NamedThing Medullary peritubular capillary lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. tmpxe7fu0cj_hp_relaxed.owl Cholesterol emboli within the medullary peritubular capillary lumen 2021-06-23 19:09:26+00:00 peter owl:Class HP:0033868 biolink:NamedThing Abnormal medullary peritubular capillary lumen morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 19:04:46+00:00 peter owl:Class HP:0040246 biolink:NamedThing Reduced antithrombin antigen Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280702 This term has been requested and created by members of the BRIDGE consortium owl:Class HP:0500109 biolink:NamedThing Positive urine barbiturate test Detection of barbiturate metabolites such as Phenobarbital in urine. tmpxe7fu0cj_hp_relaxed.owl 2018-06-25 15:19:29+00:00 Barbiturates are central nervous depressants. They can reduce heart rate, breathing, and blood pressure. owl:Class HP:0020173 biolink:NamedThing Reduced drug efficacy Decreased response to a drug intervention in comparison to the expected response. tmpxe7fu0cj_hp_relaxed.owl Decreased drug efficacy robinp 2019-07-06 21:46:54+00:00 owl:Class CHEBI:50401 biolink:NamedThing cholestanoid Any steroid based on a cholestane skeleton and its derivatives. tmpxe7fu0cj_hp_relaxed.owl cholestanoids chebi_ontology owl:Class GO:0030879 biolink:NamedThing mammary gland development The process whose specific outcome is the progression of the mammary gland over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. Its development starts with the formation of the mammary line and ends as the mature gland cycles between nursing and weaning stages. tmpxe7fu0cj_hp_relaxed.owl mammogenesis biological_process owl:Class HP:0012804 biolink:NamedThing Corneal ulceration Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. tmpxe7fu0cj_hp_relaxed.owl Corneal ulcer|Corneal ulcerations SNOMEDCT_US:91514001|UMLS:C0010043|MSH:D003320 hecht 2014-05-25T03:25:51Z human_phenotype owl:Class HP:0011495 biolink:NamedThing Abnormal corneal epithelium morphology Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. tmpxe7fu0cj_hp_relaxed.owl Abnormality of corneal epithelium UMLS:C4023326 peter 2012-04-03T07:10:49Z human_phenotype owl:Class HP:0025123 biolink:NamedThing White streaks/specks on enamel. Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks. tmpxe7fu0cj_hp_relaxed.owl 2016-11-14 01:47:26+00:00 HPO:probinson owl:Class HP:0009426 biolink:NamedThing Distal/middle symphalangism of 3rd finger Fusion of the terminal/distal and middle phalanges of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Symphalangism of the distal and middle phalanges of the 3rd finger|Fused outermost and middle bones of middle finger UMLS:C4021477 doelkens 2009-01-14T03:16:46Z HP:0009479|HP:0009480 human_phenotype owl:Class HP:3000012 biolink:NamedThing Abnormality of palatopharyngeus muscle An abnormality of a palatopharyngeus muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073221 vasilevs 2015-02-26T03:56:09Z human_phenotype owl:Class HP:0006146 biolink:NamedThing Broad metacarpal epiphyses Increased side-to-side width of the metacarpal epiphyses. tmpxe7fu0cj_hp_relaxed.owl Broad end part of long bone of hand UMLS:C4025088 human_phenotype owl:Class HP:0010791 biolink:NamedThing Hyperplasia of the Leydig cells Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:76085008|UMLS:C0023600 sdoelken 2010-05-04T09:51:26Z human_phenotype owl:Class HP:0031461 biolink:NamedThing Intramuscular Myxoma A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy. tmpxe7fu0cj_hp_relaxed.owl IM Myxoma 2017-09-17 16:09:34+00:00 peter owl:Class HP:0031460 biolink:NamedThing Benign muscle neoplasm A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882]. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 16:08:33+00:00 peter owl:Class GO:0030133 biolink:NamedThing transport vesicle Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. tmpxe7fu0cj_hp_relaxed.owl secretory vesicle|constitutive secretory pathway transport vesicle|Golgi to vacuole transport vesicle|Golgi-vacuole transport vesicle NIF_Subcellular:sao885490876 Note that the term 'secretory vesicle' is sometimes used in this sense, but can also mean 'secretory granule ; GO:0030141'. cellular_component owl:Class HP:0002398 biolink:NamedThing Degeneration of anterior horn cells tmpxe7fu0cj_hp_relaxed.owl Spinal cord anterior horn cell degeneration|Progressive loss of anterior horn cells|Anterior horn cell loss|Loss of spinal cord anterior horn cells|Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord|Degeneration of spinal cord anterior horn cells UMLS:C1843505 HP:0008312|HP:0007136 human_phenotype owl:Class HP:0030813 biolink:NamedThing Absent tonsils Lack of observable tonsillar tissue. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic tonsils|Tonsillar hypoplasia SNOMEDCT_US:300277007|SNOMEDCT_US:249393008|UMLS:C0576999 owl:Class HP:0025093 biolink:NamedThing Peripapillary exudate A retinal exudate in the area surrounding the optic nerve head. tmpxe7fu0cj_hp_relaxed.owl Peripapillary exudation 2016-10-24 01:19:32+00:00 HPO:probinson owl:Class HP:0033827 biolink:NamedThing Anterior mediastinal mass A type of inferior mediastinal mass that is located in front of the pericardium. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:29:02+00:00 peter owl:Class HP:0033826 biolink:NamedThing Inferior mediastinal mass A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4). tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:28:07+00:00 peter owl:Class HP:0008318 biolink:NamedThing Elevated leukocyte alkaline phosphatase Increased alkaline phosphatase measured within leukocytes. tmpxe7fu0cj_hp_relaxed.owl Elevated leukocyte ALP UMLS:C4024704 owl:Class PATO:0000639 biolink:NamedThing degenerate A structural quality inhering in a bearer whose structure deteriorates or is lost over time due to an active pathological process. tmpxe7fu0cj_hp_relaxed.owl degeneration quality owl:Class HP:0005680 biolink:NamedThing Tongue-like lumbar vertebral deformities A tongue-like protusion from the anterior aspect of lumbar vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025156 human_phenotype owl:Class HP:0008430 biolink:NamedThing Anterior beaking of lumbar vertebrae Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine. tmpxe7fu0cj_hp_relaxed.owl Anterior tongue-like protrusion of lumbar vertebral bodies UMLS:C4021541 HP:0005664 human_phenotype owl:Class UBERON:0000021 biolink:NamedThing cutaneous appendage Anatomical projection that protrudes from the skin. Examples: hair, nail, feather, claw, hoof, horn, wattle, spur, beak, antler, bristle and some scales. tmpxe7fu0cj_hp_relaxed.owl skin appendage|epidermal growth|epidermal appendage FMA:71012|CALOHA:TS-0051 Mammary glands develop by similar mechanisms, and there is an argument for including them here (e.g. http://www.ncbi.nlm.nih.gov/pubmed/20484386), but these structures do not fit the current definition (lactiferous glands are part of the integumentary system in FMA). Note the FMA class is a subdivision of epidermis, which may be too restrictive for our purposes here. uberon owl:Class GO:0002695 biolink:NamedThing negative regulation of leukocyte activation Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte activation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of leucocyte activation|inhibition of leukocyte activation|negative regulation of immune cell activation|down-regulation of leukocyte activation|down regulation of leukocyte activation|downregulation of leukocyte activation biological_process owl:Class UBERON:0004368 biolink:NamedThing Reichert's cartilage A continuous cartilaginous formation in mesenchyme of the second pharyngeal arch in the embryo. The longer cranial or styloid segment is continuous with the otic capsule; its inferior end is angulated and is situated very close to the oropharynx. The smaller caudal segment is in contact with the body and greater horn of the hyoid cartilaginous structure. tmpxe7fu0cj_hp_relaxed.owl Reichert cartilage|hyoid cartilage|second pharyngeal arch cartilage|hyaloid cartilage|second branchial arch cartilage EMAPA:17622|EHDAA2:0000793|FMA:295800 uberon owl:Class Classically defined as: a structure... develop the stapes, the styloid processes, the stylohyoid ligaments, and the lesser cornua of the hyoid bone; its proximal end gives rise to the stylohyoid ligament. Relationship to stapes disputed. in EHDAA2 this also develops from 3rd arch Mes from NC UBERON:0009917 biolink:NamedThing kidney corticomedullary boundary The region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37886 uberon owl:Class GO:0071753 biolink:NamedThing IgM immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpxe7fu0cj_hp_relaxed.owl Note that an IgM immunoglobulin complex has the function of antigen binding if a suitable antigen is available. mah 2010-03-24T01:44:53Z cellular_component owl:Class HP:0040276 biolink:NamedThing Adenocarcinoma of the colon tmpxe7fu0cj_hp_relaxed.owl UMLS:C0338106|NCIT:C2852 ORCID:0000-0002-5316-1399 owl:Class GO:0046137 biolink:NamedThing negative regulation of vitamin metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpxe7fu0cj_hp_relaxed.owl down-regulation of vitamin metabolic process|negative regulation of vitamin metabolism|inhibition of vitamin metabolic process|down regulation of vitamin metabolic process|downregulation of vitamin metabolic process biological_process owl:Class UBERON:0035805 biolink:NamedThing muscle layer of sigmoid colon A muscle layer that is part of the sigmoid colon. tmpxe7fu0cj_hp_relaxed.owl muscularis propria of sigmoid colon|tunica muscularis colon sigmoideum|muscularis externa of sigmoid colon|sigmoid colon muscularis propria|sigmoideum muscularis FMA:15028 uberon owl:Class GO:0099552 biolink:NamedThing trans-synaptic signaling by lipid, modulating synaptic transmission Cell-cell signaling between presynapse and postsynapse, via the release and reception of lipid molecules, that modulates the synaptic transmission properties of the synapse. tmpxe7fu0cj_hp_relaxed.owl Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua. biological_process owl:Class HP:0008163 biolink:NamedThing Decreased circulating cortisol level Abnormally reduced concentration of cortisol in the blood. tmpxe7fu0cj_hp_relaxed.owl Hypocortisolemia|Plasma cortisol low|Glucocorticoid insufficiency|Low to undetectable plasma cortisol|Hypocortisolism|Decreased cortisol production|Low blood cortisol level UMLS:C1846225|UMLS:C1836623|UMLS:C1833054 HP:0004317|HP:0003291|HP:0000874|HP:0008220 human_phenotype owl:Class HP:0025537 biolink:NamedThing Plantar edema An abnormal accumulation of fluid beneath the skin on sole of the foot. tmpxe7fu0cj_hp_relaxed.owl Plantar oedema 2017-05-18 01:29:36+00:00 HPO:probinson owl:Class HP:0012154 biolink:NamedThing Anhedonia Inability to experience pleasure activities usually found enjoyable. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:247796005|MSH:D059445|SNOMEDCT_US:28669007|UMLS:C0178417 peter 2012-09-20T06:51:36Z owl:Class HP:0410346 biolink:NamedThing Increased urinary galactosylated oligosaccharide An abnormal increase in the concentration of galactosylated oligosaccharides in urine. tmpxe7fu0cj_hp_relaxed.owl Increased concentration of galactosylated oligosaccharides in urine owl:Class HP:0000875 biolink:NamedThing Episodic hypertension tmpxe7fu0cj_hp_relaxed.owl Intermittent high blood pressure UMLS:C1857175 human_phenotype owl:Class GO:0046185 biolink:NamedThing aldehyde catabolic process The chemical reactions and pathways resulting in the breakdown of aldehydes, any organic compound with the formula R-CH=O. tmpxe7fu0cj_hp_relaxed.owl aldehyde catabolism|aldehyde breakdown|aldehyde degradation biological_process owl:Class HP:0002187 biolink:NamedThing Intellectual disability, profound Profound mental retardation is defined as an intelligence quotient (IQ) below 20. tmpxe7fu0cj_hp_relaxed.owl Mental retardation, profound|IQ less than 20|Profound mental retardation MSH:D008607|UMLS:C3161330|SNOMEDCT_US:31216003|UMLS:C0020796 Persons with profound mental retardation generally require constant care. human_phenotype owl:Class HP:0012452 biolink:NamedThing Restless legs A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia). tmpxe7fu0cj_hp_relaxed.owl Willis-Ekbom disease|Restless legs syndrome|Wittmaack-Ekbom syndrome MSH:D012148|UMLS:C0035258|SNOMEDCT_US:32914008 Restless legs syndrome is a disorder characterized by aching or burning sensations in the legs that occur prior to sleep or may awaken the affected persons. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. peter 2013-11-23T07:42:59Z human_phenotype owl:Class UBERON:0010551 biolink:NamedThing pedal digit 5 metatarsal pre-cartilage condensation A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 5 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl foot digit 5 metatarsal pre-cartilage condensation|hind limb digit 5 metatarsal pre-cartilage condensation|toe 5 metatarsal pre-cartilage condensation|pedal digit V metatarsal pre-cartilage condensation EHDAA2:0002060|EMAPA:17733 uberon owl:Class HP:0010688 biolink:NamedThing Low placental alkaline phosphatase An abnormally reduced level of alkaline phosphatase, placental type in the blood. tmpxe7fu0cj_hp_relaxed.owl Low placental ALP UMLS:C4023737 doelkens 2010-03-05T11:13:28Z human_phenotype owl:Class GO:0097190 biolink:NamedThing apoptotic signaling pathway A series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. tmpxe7fu0cj_hp_relaxed.owl induction of apoptosis by extracellular signals|apoptotic signalling pathway This term can be used to annotate gene products involved in apoptotic events happening downstream of the cross-talk point between the extrinsic and intrinsic apoptotic pathways. The cross-talk starts when caspase-8 cleaves Bid and truncated Bid interacts with mitochondria. From this point on it is not possible to distinguish between extrinsic and intrinsic pathways. pr 2011-11-23T09:30:23Z GO:0008624 biological_process owl:Class GO:0045088 biolink:NamedThing regulation of innate immune response Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0034048 biolink:NamedThing Decreased circulating chenodeoxycholic acid concentration A reduced concentration of chenodeoxycholic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased circulating chenodiol concentration 2021-10-19 16:49:15+00:00 Chenodeoxycholic acid (chenodiol) is a primary bile acid, synthesized in the liver and present in high concentrations in bile. peter owl:Class HP:0030985 biolink:NamedThing Decreased serum bile acid concentration A reduction in the concentration of bile acid in the blood. tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 13:02:06+00:00 peter owl:Class HP:0000052 biolink:NamedThing Urethral atresia, male Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025894 human_phenotype owl:Class HP:0001013 biolink:NamedThing Eruptive xanthomas Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:238952003|UMLS:C0221252 Eruptive xanthomas occur in the setting of chylomicronemia and hypertriglyceridemia. human_phenotype owl:Class HP:0033703 biolink:NamedThing Dysembryoplastic neuroepithelial tumor Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found tmpxe7fu0cj_hp_relaxed.owl DNET|DNT 2021-03-12 12:40:15+00:00 They are commonly found in the temporal lobe and may be associated with temporal lobe epilepsy. DNETs are sometimes found in association with focal cortical dysplasia and have both neuronal and glial features. peter owl:Class HP:0031562 biolink:NamedThing Balanced double aortic arch A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch. tmpxe7fu0cj_hp_relaxed.owl 2017-09-29 11:31:18+00:00 Fyler:2780 peter owl:Class HP:0011590 biolink:NamedThing Double aortic arch A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). tmpxe7fu0cj_hp_relaxed.owl UMLS:C0265883|Fyler:2761|SNOMEDCT_US:10451007 peter 2012-04-08T01:46:10Z human_phenotype owl:Class HP:0032761 biolink:NamedThing Focal aware autonomic seizure with pallor/flushing A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0005087 biolink:NamedThing tooth placode An tooth placode is a thickening of the ectoderm that will give rise to the tooth bud[GO]. tmpxe7fu0cj_hp_relaxed.owl tooth germ|dental anlage|tooth anlage|dental placode|odontogenic placode|tooth primordium|dental primordium TAO:0001153|ZFA:0001153|BTO:0001511 uberon owl:Class Placode that develops into a tooth. The placode is a thickening of the pharyngeal epithelium.[TAO] In mammals this may be located in the alveolar ridges, but note that some species such as zebrafish have ceratobranchial teeth. Sharks have dermal denticles that share developmental origins. Currently we don't include location information due to this diversity, but in future we may include specific subclasses and/or taxon GCIs. UBERON:0010422 biolink:NamedThing primary nodular lymphoid tissue A lymphoid follicle containing naive B cells. tmpxe7fu0cj_hp_relaxed.owl primary lymphoid follicle|primary follicle|primary lymphoid nodule FMA:55223 uberon owl:Class The cortex of lymph nodes, the white pulp of spleen, and mucosa associated lymphoid tissue all have these primary follicles HP:0100436 biolink:NamedThing Bullet-shaped middle phalanx of the 5th toe An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped middle bone of the pinkie toe|Bullet-shaped middle bone of the little toe|Bullet-shaped middle bone of the pinky toe UMLS:C4022091 human_phenotype owl:Class CHEBI:25213 biolink:NamedThing metal cation tmpxe7fu0cj_hp_relaxed.owl metal cations|a metal cation chebi_ontology owl:Class CHEBI:23906 biolink:NamedThing monoatomic cation tmpxe7fu0cj_hp_relaxed.owl monoatomic cations chebi_ontology owl:Class UBERON:0018115 biolink:NamedThing left renal pelvis A renal pelvis that is part of a left ureter. tmpxe7fu0cj_hp_relaxed.owl pelvis of left ureter|renal pelvis of left kidney FMA:15579 uberon owl:Class HP:0004902 biolink:NamedThing Congenital lactic acidosis A form of lactic acidemia with congenital onset. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025276 human_phenotype owl:Class UBERON:0011585 biolink:NamedThing cell condensation Anatomical structure that is an aggregation of similar cells from which cartilages and bones form, and from which chondrogenesis and osteogenesis are initiated during repair and/or regeneration. (Hall and Miyake 1995). tmpxe7fu0cj_hp_relaxed.owl XAO:0004021|VSAO:0000006 consider obsoleting, coordinate with VSAO uberon owl:Class UBERON:2001950 biolink:NamedThing inter-premaxillary joint Joint that articulates the left and right premaxillary bones. Inter-premaxillary joint is unpaired. tmpxe7fu0cj_hp_relaxed.owl ZFA:0005475 teleost_anatomy_curators uberon owl:Class This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon HP:0000216 biolink:NamedThing Broad secondary alveolar ridge tmpxe7fu0cj_hp_relaxed.owl Secondary alveolar ridges UMLS:C1839276 human_phenotype owl:Class HP:0000187 biolink:NamedThing Broad alveolar ridges tmpxe7fu0cj_hp_relaxed.owl Wide gum ridges|Broad alveolar margins|Wide alveolar processes of jaw|Wide alveolar margins|Broad alveolar processes of jaw|Widened alveolar ridges UMLS:C1857500|UMLS:C4280675 human_phenotype owl:Class HP:0032462 biolink:NamedThing Increased circulating palmitate level An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-03-09 17:54:11+00:00 Palmitic acid (16:0, PA) is the most common saturated fatty acid found in the human body and can be provided in the diet or synthesized endogenously from other fatty acids, carbohydrates and amino acids. PA represents 20-30% of total fatty acids (FA) in membrane phospholipids, and adipose triacylglycerols (TAG). peter owl:Class HP:0003455 biolink:NamedThing Elevated circulating long chain fatty acid concentration Increased concentration of long-chain fatty acids in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated long chain fatty acids|Elevated serum long-chain fatty acids|Increased serum long-chain fatty acids UMLS:C1859241 This feature can be measured in plasma, as well as in cultured fibroblasts of amniocytes. HP:0045016|HP:0008333 human_phenotype owl:Class HP:0500198 biolink:NamedThing Decreased CSF glutamine concentration Abnormally decreased levels of glutamine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Low glutamine levels in cerebrospinal fluid 2019-02-25 16:43:22+00:00 owl:Class UBERON:0008114 biolink:NamedThing joint of girdle A skeletal joint that is part of a appendage girdle region. tmpxe7fu0cj_hp_relaxed.owl girdle joint MA:0001505 uberon owl:Class HP:0008866 biolink:NamedThing Failure to thrive secondary to recurrent infections Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections. tmpxe7fu0cj_hp_relaxed.owl Weight faltering secondary to recurrent infections|Faltering weight secondary to recurrent infections UMLS:C1832323 human_phenotype owl:Class GO:0006575 biolink:NamedThing cellular modified amino acid metabolic process The chemical reactions and pathways involving compounds derived from amino acids, organic acids containing one or more amino substituents. tmpxe7fu0cj_hp_relaxed.owl cellular amino acid derivative metabolism|cellular modified amino acid metabolism|modified amino acid metabolic process|modified amino acid metabolism|amino acid derivative metabolic process|cellular amino acid derivative metabolic process biological_process owl:Class HP:0010494 biolink:NamedThing Acromelia of the lower limbs Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023805 peter 2009-09-17T11:04:51Z human_phenotype owl:Class HP:0031165 biolink:NamedThing Multifocal seizures Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations). tmpxe7fu0cj_hp_relaxed.owl Multifocal onset seizures 2017-06-18 18:13:43+00:00 peter owl:Class HP:0032204 biolink:NamedThing Chronic active Epstein-Barr virus infection Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed. tmpxe7fu0cj_hp_relaxed.owl 2019-01-20 15:00:27+00:00 The mechanisms by which an EBV infection becomes chronic active are likely to be heterogenous and may involve host immune factors, viral factors, or both. peter owl:Class HP:0032877 biolink:NamedThing Focal aware sensory seizure with hot-cold sensations A seizure characterized by sensations of feeling hot and then cold. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032760 biolink:NamedThing Focal sensory seizure with hot-cold sensations A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0016513 biolink:NamedThing cavity of left atrium Luminal space of the left atrium of the heart. tmpxe7fu0cj_hp_relaxed.owl left atrium lumen|left atrial cavity EMAPA:26011|FMA:9465 uberon owl:Class HP:0001211 biolink:NamedThing Abnormal fingertip morphology An abnormal structure of the tip (end) of a finger. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the fingertips UMLS:C4025796 human_phenotype owl:Class GO:1904818 biolink:NamedThing visceral peritoneum development The process whose specific outcome is the progression of a visceral peritoneum over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl dph 2015-11-17T19:00:17Z biological_process owl:Class CL:0000473 biolink:NamedThing defensive cell A cell whose primary function is to protect the organism. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0032595 biolink:NamedThing Renal tubular epithelial cell detachment Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:3000064 biolink:NamedThing Abnormality of intrinsic muscle of tongue An abnormality of an intrinsic muscle of tongue. tmpxe7fu0cj_hp_relaxed.owl Abnormality of intrinsic lingual muscle UMLS:C4073271 vasilevs 2015-08-07T03:19:10Z human_phenotype owl:Class HP:0040311 biolink:NamedThing Symmetric polyarthritis Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion. tmpxe7fu0cj_hp_relaxed.owl In the event that pain is the only symptom, it is difficult to differentiate polyarthritis from the causes of polyarticular joint pain, such as fibromyalgia or osteoarthritis. ORCID:0000-0002-5316-1399 owl:Class HP:0100354 biolink:NamedThing Contracture of the distal interphalangeal joint of the 4th toe The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022131 owl:Class PATO:0002182 biolink:NamedThing molecular quality A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc. tmpxe7fu0cj_hp_relaxed.owl relational molecular quality 2010-03-10T03:18:15Z PATO:0002061 quality owl:Class HP:0010551 biolink:NamedThing Paraplegia/paraparesis Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023792 peter 2009-10-01T08:36:05Z owl:Class HP:0500154 biolink:NamedThing Hypoalaninemia A decreased amount of alanine in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood alanine levels|Decreased blood alanine concentration 2018-10-05 14:55:51+00:00 owl:Class HP:0006060 biolink:NamedThing Tombstone-shaped proximal phalanges tmpxe7fu0cj_hp_relaxed.owl Tombstone-shaped innermost digital bones UMLS:C1862420 human_phenotype owl:Class HP:0033819 biolink:NamedThing Perilymphatic Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel). tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:19:16+00:00 peter owl:Class HP:0012400 biolink:NamedThing Abnormal aldolase level An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022916 The reaction catalyzed by aldolase is a component of the glycolysis pathway. peter 2013-11-09T03:35:35Z owl:Class GO:0042713 biolink:NamedThing sperm ejaculation The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0003182 biolink:NamedThing Shallow acetabular fossae tmpxe7fu0cj_hp_relaxed.owl Shallow acetabulum|Shallow acetabular fossa|Shallow acetabulae|Shallow acetabula UMLS:C1854910|UMLS:C1860796 human_phenotype owl:Class HP:0430007 biolink:NamedThing Symblepharon A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. tmpxe7fu0cj_hp_relaxed.owl Eyelid stuck to eyeball|Eyelid adhesion to globe of eye SNOMEDCT_US:90216006|UMLS:C0152454 owl:Class HP:0100498 biolink:NamedThing Deviation of toes tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022039 doelkens 2010-12-17T04:25:31Z human_phenotype owl:Class HP:0006437 biolink:NamedThing Disproportionate prominence of the femoral medial condyle tmpxe7fu0cj_hp_relaxed.owl UMLS:C1834392 owl:Class HP:0007911 biolink:NamedThing Congenital bilateral ptosis tmpxe7fu0cj_hp_relaxed.owl Ptosis, congenital bilateral|Ptosis, bilateral congenital|Congenital drooping of both upper eyelids UMLS:C1836264 HP:0007719|HP:0007955 human_phenotype owl:Class UBERON:0001735 biolink:NamedThing tonsillar ring The circular lymphoid tissue formed by the lingual, pharyngeal, and facial tonsils. tmpxe7fu0cj_hp_relaxed.owl Waldeyer's tonsillar ring|anulus lymphoideus pharyngis|Waldeyer's ring|pharyngeal lymphatic ring|pharyngeal lymphoid ring|oropharyngeal lymphoid tissue NCIT:C73468|UMLS:C0459892|MA:0000752|FMA:55070 uberon owl:Class HP:0032871 biolink:NamedThing Focal aware cognitive seizure with hallucination A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033698 biolink:NamedThing Monomorphic vesicular eruption A type of vesicular eruption in which the vesicles are at same stages. tmpxe7fu0cj_hp_relaxed.owl 2021-03-07 23:07:55+00:00 Monomorphic vesicular eruptions should be differentiated from polymorphic vesicular eruptions such as those seem in chickenpox. peter owl:Class HP:0033697 biolink:NamedThing Vesicular eruption A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic. tmpxe7fu0cj_hp_relaxed.owl 2021-03-07 23:06:54+00:00 peter owl:Class HP:0002588 biolink:NamedThing Duodenal ulcer An erosion of the mucous membrane in a portion of the duodenum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0013295|MEDDRA:10013836|SNOMEDCT_US:51868009|SNOMEDCT_US:367474008|MSH:D004381 human_phenotype owl:Class HP:0100287 biolink:NamedThing EMG: slow motor conduction The presence of reduced conduction velocity of motor nerves on electromyography. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022167 doelkens 2010-08-10T01:11:48Z human_phenotype owl:Class GO:0014070 biolink:NamedThing response to organic cyclic compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. tmpxe7fu0cj_hp_relaxed.owl response to organic cyclic substance biological_process owl:Class HP:0030137 biolink:NamedThing Prolonged bleeding following circumcision Bleeding that persists for a longer than usual time following circumcision. tmpxe7fu0cj_hp_relaxed.owl Prolonged bleeding following circumcision UMLS:C4022611 owl:Class UBERON:0004987 biolink:NamedThing mucosa of laryngopharynx A mucosa that is part of a hypopharynx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hypopharynx organ mucosa|mucosa of hypopharynx|mucosa of laryngeal pharynx|hypopharynx mucosa|mucous membrane of hypopharynx|mucosa of organ of hypopharynx|mucosa of organ of laryngeal pharynx|hypopharynx mucous membrane|organ mucosa of laryngopharynx|laryngeal pharynx mucosa of organ|laryngopharynx mucous membrane|organ mucosa of hypopharynx|laryngeal pharynx organ mucosa|laryngopharynx organ mucosa|laryngeal pharynx mucous membrane|laryngeal pharynx mucosa|laryngopharynx mucosa|laryngopharynx mucosa of organ|mucous membrane of laryngopharynx|mucosa of organ of laryngopharynx|organ mucosa of laryngeal pharynx|mucous membrane of laryngeal pharynx|hypopharynx mucosa of organ FMA:55030 uberon owl:Class HP:0010663 biolink:NamedThing Abnormality of thalamus morphology An abnormality of the thalamus. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of thalamus|Abnormality of the thalamus UMLS:C4021243 peter 2010-02-26T08:03:50Z human_phenotype owl:Class HP:0032610 biolink:NamedThing Tubulointerstitial mycobacterial infiltration Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. tmpxe7fu0cj_hp_relaxed.owl Renal tubulointerstitial mycobacterial organisms peter owl:Class HP:0030719 biolink:NamedThing Unguarded tricuspid valve A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue. tmpxe7fu0cj_hp_relaxed.owl Rudimentary tricuspid valve leaflets|Unguarded tricuspid valve orifice SNOMEDCT_US:253381001|UMLS:C0344745 owl:Class HP:0030011 biolink:NamedThing Imperforate hymen A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:65937002|UMLS:C0152436|MSH:C562397 Imperformate hymen is caused by a failure of the hymen to perforate during fetal development. It is most often diagnosed in adolescent girls when menstrual blood accumulates in the vagina and sometimes also in the uterus. It can be treated by surgical incision of the hymen. owl:Class UBERON:0001202 biolink:NamedThing pyloric sphincter A strong ring of smooth muscle at the end of the pyloric canal which lets food pass from the stomach to the duodenum. It receives sympathetic innervation from the celiac ganglion[WP]. tmpxe7fu0cj_hp_relaxed.owl pyloric valve VHOG:0001466|MA:0002952|NCIT:C33433|FMA:14916|EMAPA:19251|UMLS:C0227238|OpenCyc:Mx4rvly2ZZwpEbGdrcN5Y29ycA|AAO:0011093|XAO:0000457 uberon owl:Class (...) the adult Xenopus stomach exhibits both glandular and aglandular regions and a distinct pyloric sphincter similar to that of the amniotic vertebrates (...).[uncertain][VHOG] UBERON:0011185 biolink:NamedThing gastrointestinal sphincter A sphincter muscle that is part of the gastrointestinal system. tmpxe7fu0cj_hp_relaxed.owl NCIT:C32669|UMLS:C1517464 uberon owl:Class HP:0003992 biolink:NamedThing Slender ulna Reduction in diameter of the ulna. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968814 human_phenotype owl:Class HP:0004610 biolink:NamedThing Lumbar spinal canal stenosis An abnormal narrowing of the lumbar spinal canal. tmpxe7fu0cj_hp_relaxed.owl Narrow lumbar spinal canal|Lumbar spinal stenosis UMLS:C0158288|SNOMEDCT_US:18347007 Symptoms of lumbar spinal canal stenosis include pseudoclaudication (pain, numbness,, or weakness induced by walking and relieved by rest; the prefix pseudo is used to differentiate this manifestation from claudication, which has similar symptoms but is caused by peripheral artery disease). human_phenotype owl:Class HP:0003416 biolink:NamedThing Spinal canal stenosis An abnormal narrowing of the spinal canal. tmpxe7fu0cj_hp_relaxed.owl Spinal stenosis|Narrow spinal canal UMLS:C1861329 Stenosis of the spinal canal can result in neurological symptoms because of compression of the spinal cord or spinal nerve roots, depending on the location of the stenosis in the vertebral column. HP:0008446 human_phenotype owl:Class HP:0020218 biolink:NamedThing Focal aware atonic seizure A type of focal atonic seizure during which awareness is fully retained throughout. tmpxe7fu0cj_hp_relaxed.owl robinp 2020-02-24 14:12:12+00:00 owl:Class HP:0001056 biolink:NamedThing Milia Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. tmpxe7fu0cj_hp_relaxed.owl Millium cyst|Milk spot UMLS:C0345996|SNOMEDCT_US:37719003|SNOMEDCT_US:254683001|SNOMEDCT_US:254679001 Milia are a normal finding in newborn babies (40-50%), often occurring around the nose. human_phenotype owl:Class HP:0006783 biolink:NamedThing Posterior pharyngeal cleft tmpxe7fu0cj_hp_relaxed.owl UMLS:C1848389 human_phenotype owl:Class CHEBI:48355 biolink:NamedThing non-polar solvent tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0001686 biolink:NamedThing Loss of voice tmpxe7fu0cj_hp_relaxed.owl Aphonia SNOMEDCT_US:441913003|MSH:D001044|SNOMEDCT_US:44564008|UMLS:C0003564 human_phenotype owl:Class HP:0032369 biolink:NamedThing Alkalemia An abnormally high blood pH (usually defined as 7.41 or above). tmpxe7fu0cj_hp_relaxed.owl 2019-02-23 18:42:24+00:00 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. peter owl:Class CHEBI:15727 biolink:NamedThing carnosine A dipeptide that is the N-(beta-alanyl) derivative of L-histidine. tmpxe7fu0cj_hp_relaxed.owl N-beta-alanyl-L-histidine|Karnozzn|Nalpha-(beta-alanyl)-L-histidine|(2S)-2-(3-aminopropanamido)-3-(1H-imidazol-4-yl)propanoic acid|ignotine|N-(3-aminopropanoyl)-L-histidine|Carnosine|N-2-M|beta-alanyl-L-histidine|N(alpha)-(beta-alanyl)-L-histidine|Karnozin|L-carnosine 0 C9H14N4O3 InChI=1S/C9H14N4O3/c10-2-1-8(14)13-7(9(15)16)3-6-4-11-5-12-6/h4-5,7H,1-3,10H2,(H,11,12)(H,13,14)(H,15,16)/t7-/m0/s1 CQOVPNPJLQNMDC-ZETCQYMHSA-N 226.236 226.10659 NCCC(=O)N[C@@H](CC1=CNC=N1)C(O)=O PMID:10951105|PMID:33704575|PMID:31951767|PMID:1735411|PMID:12139778|PMID:8689392|HMDB:HMDB0000033|PMID:11470131|PMID:15853927|PMID:18773880|Reaxys:87671|PMID:16181134|PMID:9928418|PMID:17031479|PMID:18019400|PMID:10841274|PMID:29463897|PMID:16287364|PMID:33586561|DrugBank:DB11695|PMID:16162015|PDBeChem:8V0|PMID:24398899|PMID:15941308|PMID:9029640|PMID:2674258|PMID:20681748|PMID:10951108|PMID:11707898|KNApSAcK:C00052222|CAS:305-84-0|KEGG:C00386|PMID:34067694|PMID:16804013|PMID:20017611|PMID:15878720|PMID:16406688|Wikipedia:Carnosine|Chemspider:388363|PMID:18076890|PMID:11976203|PMID:17443912|PMID:19309105|PMID:11911459 CHEBI:13948|CHEBI:3428|CHEBI:23040 chebi_ontology owl:Class UBERON:0008242 biolink:NamedThing lower back muscle A muscle of back that is part of a lower back. tmpxe7fu0cj_hp_relaxed.owl MA:0000502|EMAPA:37262 uberon owl:Class GO:0090435 biolink:NamedThing protein localization to nuclear envelope A process in which a protein is transported to, or maintained at, a location within a nuclear envelope. tmpxe7fu0cj_hp_relaxed.owl protein localization in nuclear envelope tb 2012-07-30T01:50:41Z biological_process owl:Class HP:0010135 biolink:NamedThing Small epiphysis of the proximal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Small end part of the innermost bone of the big toe UMLS:C4024024 doelkens 2009-05-29T01:22:23Z human_phenotype owl:Class UBERON:0004414 biolink:NamedThing proximal epiphysis of phalanx of manus A proximal epiphysis that is part of a phalanx of manus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of phalanx of finger|proximal epiphysis of phalanx of hand|proximal epiphysis of phalanx of finger|basis phalangis manus|basal epiphysis of phalanx of finger FMA:226482 uberon owl:Class CHEBI:50329 biolink:NamedThing 2-carboxyethyl group tmpxe7fu0cj_hp_relaxed.owl 2-carboxyethyl|glutamic acid side-chain 0 C3H5O2 73.07060 73.02895 C(CC(=O)O)* chebi_ontology owl:Class HP:0040205 biolink:NamedThing Decreased CSF neopterin level Decreased concentration of neopterin in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073153 PhenoTips:CHum owl:Class HP:0040203 biolink:NamedThing Abnormal CSF neopterin level Abnormal concentration of neopterin in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073151 PhenoTips:CHum owl:Class HP:5000000 biolink:NamedThing Anti-AK5 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5). tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-3387-1836 owl:Class HP:0033874 biolink:NamedThing Cortical peritubular capillary lumen organized thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 19:24:00+00:00 peter owl:Class HP:0009154 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 5th finger A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the innermost bone of pinkie finger|Delta-shaped epiphysis of the proximal phalanx of the 5th finger|Triangular end part of the innermost bone of pinky finger|Triangular end part of the innermost bone of little finger UMLS:C4021518 peter 2008-12-22T05:50:39Z HP:0009156 human_phenotype owl:Class HP:0007950 biolink:NamedThing Peripapillary chorioretinal atrophy Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024765 human_phenotype owl:Class CHEBI:59999 biolink:NamedThing chemical substance A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types. tmpxe7fu0cj_hp_relaxed.owl Chemische Substanz chebi_ontology owl:Class HP:0034072 biolink:NamedThing Abnormal fetal long-bone echogenicity Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging. tmpxe7fu0cj_hp_relaxed.owl 2021-12-18 14:48:21+00:00 Hyperechoic structures are seen as brighter on the US image relative to surrounding structures due to higher reflectivity of the US beam. Isoechoic structures are seen as bright as surrounding structures on conventional US imaging due to similar reflectivity to the US beam. Hypoechoic structures are seen as darker relative to the surrounding structures on the US image due to the US beam being reflected to a lesser extent. Anechoic structures that lack internal reflectors fail to reflect the US beam to the transducer and are seen as homogeneously black on imaging. peter owl:Class HP:0010064 biolink:NamedThing Symphalangism affecting the phalanges of the hallux tmpxe7fu0cj_hp_relaxed.owl Fused big toe bones|hallucal symphalangism UMLS:C1836216 doelkens 2009-05-29T12:10:46Z HP:0004687 owl:Class BFO:0000006 biolink:NamedThing spatial region tmpxe7fu0cj_hp_relaxed.owl SpatialRegion s-region Spatial region doesn't have a closure axiom because the subclasses don't exhaust all possibilites. An example would be the union of a spatial point and a spatial line that doesn't overlap the point, or two spatial lines that intersect at a single point. In both cases the resultant spatial region is neither 0-dimensional, 1-dimensional, 2-dimensional, or 3-dimensional.|BFO 2 Reference: Spatial regions do not participate in processes. A spatial region is a continuant entity that is a continuant_part_of spaceR as defined relative to some frame R. (axiom label in BFO2 Reference: [035-001]) (forall (x) (if (SpatialRegion x) (Continuant x))) // axiom label in BFO2 CLIF: [035-001] |(forall (x y t) (if (and (SpatialRegion x) (continuantPartOfAt y x t)) (SpatialRegion y))) // axiom label in BFO2 CLIF: [036-001] All continuant parts of spatial regions are spatial regions. (axiom label in BFO2 Reference: [036-001]) owl:Class GO:0035904 biolink:NamedThing aorta development The progression of the aorta over time, from its initial formation to the mature structure. An aorta is an artery that carries blood from the heart to other parts of the body. tmpxe7fu0cj_hp_relaxed.owl bf 2011-06-24T11:00:07Z biological_process owl:Class GO:0006720 biolink:NamedThing isoprenoid metabolic process The chemical reactions and pathways involving isoprenoid compounds, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues. tmpxe7fu0cj_hp_relaxed.owl polyisoprenoid metabolism|polyterpene metabolism|polyterpene metabolic process|polyisoprenoid metabolic process|isoprenoid metabolism GO:0016096 biological_process owl:Class HP:0040322 biolink:NamedThing Purple urine An abnormal purple color of the urine. tmpxe7fu0cj_hp_relaxed.owl http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean ORCID:0000-0002-5316-1399 owl:Class HP:0011192 biolink:NamedThing Polymorphic focal epileptiform discharges Focal epileptiform discharges of different shapes and frequencies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023482 hecht 2011-11-19T10:49:45Z human_phenotype owl:Class HP:0025105 biolink:NamedThing Nevus anemicus A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots. tmpxe7fu0cj_hp_relaxed.owl Naevus anaemicus 2016-10-28 23:49:41+00:00 HPO:probinson owl:Class HP:0025104 biolink:NamedThing Capillary malformation A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). tmpxe7fu0cj_hp_relaxed.owl 2016-10-28 23:39:18+00:00 There are many different classifications, and some authors treat the term capillary malformation as being synonymous with port wine stain (nevus flammeus). We refer to the detailed classification of Happle (PMID:25864701), which we do not completely follow. HPO:probinson owl:Class HP:0032000 biolink:NamedThing Pleural rub An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles tmpxe7fu0cj_hp_relaxed.owl 2018-07-15 21:53:13+00:00 peter owl:Class HP:0100481 biolink:NamedThing Proximal/middle symphalangism of 4th toe Bony fusion of the middle and proximal phalanges of the 4th toe. tmpxe7fu0cj_hp_relaxed.owl Symphalangism of the middle and proximal phalanges of the 4th toe|Fused innermost and middle bones of 4th toe UMLS:C4020974 human_phenotype owl:Class CL:0000881 biolink:NamedThing perivascular macrophage A central nervous system macrophage found in small blood vessels in the brain. Markers include CD14+CD16+CD163+. tmpxe7fu0cj_hp_relaxed.owl Markers: Human/monkey, mice: CD163. Human: CD14+CD16+CD163+. cell owl:Class HP:0009483 biolink:NamedThing Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal. tmpxe7fu0cj_hp_relaxed.owl Fused innermost bones of middle finger with middle long bone of hand UMLS:C4024339 doelkens 2009-01-15T10:29:08Z human_phenotype owl:Class HP:0033173 biolink:NamedThing Milky appearance of bronchoalveolar lavage fluid Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space. tmpxe7fu0cj_hp_relaxed.owl 2020-09-24 10:42:34+00:00 This feature is characteristically observed in pulmonary alveolar proteinosis. peter owl:Class CHEBI:35617 biolink:NamedThing flavouring agent A food additive that is used to added improve the taste or odour of a food. tmpxe7fu0cj_hp_relaxed.owl flavoring agents|flavoring agent|flavour enhancers|flavour enhancer|flavouring agents chebi_ontology owl:Class UBERON:0012361 biolink:NamedThing internal anal region tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004588 uberon owl:Class HP:0031449 biolink:NamedThing Perineal hemangioma Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 14:49:42+00:00 peter owl:Class HP:0032152 biolink:NamedThing Keratosis pilaris An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. tmpxe7fu0cj_hp_relaxed.owl Follicular keratotic plug|Carpet tack sign|Hyperkeratosis pilaris|Follicular plugging|Follicular keratosis|Lichen pilaris|Chicken skin 2018-12-02 13:20:11+00:00 Keratosis pilaris is characterized by abnormal keratinisation of the lining of the follicular infundibulum (the upper portion of the hair follicle). Keratin (i.e., scale) fills the follicle instead of exfoliating. Clinically, the keratotic plugs have been referred to as the carpet tack sign since they project up similar to carpet tacks. peter HP:0040180 owl:Class HP:0004963 biolink:NamedThing Calcification of the aorta Calcification, that is, pathological deposition of calcium salts in the aorta. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1096249 Note that the phrase "aortic calcification" is mainly used to describe calcification of the aortic valve rather than of the aorta itself. owl:Class UBERON:0013646 biolink:NamedThing buccal nerve The buccal nerve (also called the long buccal nerve) is a nerve in the face. It is a branch of the mandibular nerve (which is itself a branch of the trigeminal nerve) and transmits sensory information from skin over the buccal membrane (in general, the cheek) and from the second and third molar teeth. tmpxe7fu0cj_hp_relaxed.owl long buccal nerve|buccinator nerve|buccinator branch BAMS:bucn|FMA:53066 uberon owl:Class HP:0032374 biolink:NamedThing Duffy Fya positivity Presence of the Duffy Fya antigen. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 13:40:29+00:00 peter owl:Class HP:0032373 biolink:NamedThing Duffy blood group The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 13:37:17+00:00 FY has two major codominant alleles, FYA and FYB, which result from a SNP (125G>A), and the corresponding Fya and Fyb antigens differ by a single amino acid (G42D). Individuals who are homozygous for a -33T>C SNP in the erythroid promoter region of the FYB allele have the phenotype Fy(a-b-) and do not express Duffy antigens on their RBCs. peter owl:Class HP:0004975 biolink:NamedThing Erlenmeyer flask deformity of the femurs Flaring of distal femur. tmpxe7fu0cj_hp_relaxed.owl Erlenmeyer flask femora|Erlenmeyer flask shaped thighbone|Erlenmeyer flask deformity of distal femur UMLS:C1855895 HP:0006422 owl:Class HP:0011761 biolink:NamedThing Pituitary null cell adenoma A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess. tmpxe7fu0cj_hp_relaxed.owl Non-functional pituitary adenoma|Silent pituitary adenoma|Clinically silent pituitary adenoma|Hormonally silent pituitary adenoma SNOMEDCT_US:254962005|UMLS:C0338078 peter 2012-04-22T03:39:00Z human_phenotype owl:Class CHEBI:90710 biolink:NamedThing receptor modulator A drug that acts as an antagonist, agonist, reverse agonist, or in some other fashion when interacting with cellular receptors. tmpxe7fu0cj_hp_relaxed.owl receptor modulators chebi_ontology owl:Class GO:1903847 biolink:NamedThing regulation of aorta morphogenesis Any process that modulates the frequency, rate or extent of aorta morphogenesis. tmpxe7fu0cj_hp_relaxed.owl rph 2015-01-23T14:00:51Z biological_process owl:Class HP:0034118 biolink:NamedThing Anti-GM1 IgM antibody positivity The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:23:33+00:00 peter owl:Class HP:0034103 biolink:NamedThing Anti-GM1 antibody positivity Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury tmpxe7fu0cj_hp_relaxed.owl Anti-ganglioside-monosialic acid antibody positivity 2021-12-23 11:18:50+00:00 peter owl:Class HP:0010501 biolink:NamedThing Limitation of knee mobility An abnormal limitation of knee joint mobility. tmpxe7fu0cj_hp_relaxed.owl Limited knee movement|Limitation of knee mobility UMLS:C4021259 The knee permits four types of movement: (i) Extension (straightening the lower leg); (ii) Flexion (bending the knee); (iii) Lateral rotation (turning outwards); and (iv) Medial rotation (turning inward) peter 2009-09-19T09:44:33Z HP:0005192|HP:0005030 owl:Class GO:0009185 biolink:NamedThing ribonucleoside diphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside diphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with diphosphate on the sugar. tmpxe7fu0cj_hp_relaxed.owl ribonucleoside diphosphate metabolism biological_process owl:Class HP:0033114 biolink:NamedThing Quadruple gallop rhythm A type of gallop rhytm in which both the third and the fourth sounds are present. tmpxe7fu0cj_hp_relaxed.owl 2020-08-30 12:35:42+00:00 peter owl:Class HP:0040187 biolink:NamedThing Neonatal sepsis Systemic inflammatory response to infection in newborn babies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0456103|MSH:D000071074|SNOMEDCT_US:206376005 owl:Class HP:0100806 biolink:NamedThing Sepsis Systemic inflammatory response to infection. tmpxe7fu0cj_hp_relaxed.owl Infection in blood stream MSH:D018805|UMLS:C0036690 doelkens 2011-06-09T01:05:51Z human_phenotype owl:Class HP:0009493 biolink:NamedThing Irregular epiphyses of the 2nd finger Irregular radiographic opacity of the epiphyses of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the index finger UMLS:C4024332 doelkens 2009-01-16T01:07:16Z human_phenotype owl:Class UBERON:0004353 biolink:NamedThing female inguinal canal An inguinal canal that is part of a female organism. Conveys the round ligament + the ilioinguinal nerve.[WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl inguinal canal of female MA:0003249|EMAPA:19171 uberon owl:Class in MP, this is implicitly part of female reproductive system, but not female genitalia HP:0011272 biolink:NamedThing Underdeveloped tragus Decreased posterolateral protrusion of the tragus. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic tragus|Small tragus|Hypotrophic tragus UMLS:C4013429 peter 2011-12-18T08:01:33Z human_phenotype owl:Class HP:0009913 biolink:NamedThing Aplasia/Hypoplasia of the tragus Aplasia or developmental hypoplasia of the tragus. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped tragus|Absent/small tragus UMLS:C4024161 peter 2009-05-01T03:43:12Z owl:Class NBO:0000100 biolink:NamedThing exploration behavior GO:0035640 tmpxe7fu0cj_hp_relaxed.owl 2011-03-31T10:28:39Z George Gkoutos behavior_ontology owl:Class CL:2000044 biolink:NamedThing brain microvascular endothelial cell Any microvascular endothelial cell that is part of a brain. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-07-09T00:24:53Z cell owl:Class HP:0000494 biolink:NamedThing Downslanted palpebral fissures The palpebral fissure inclination is more than two standard deviations below the mean. tmpxe7fu0cj_hp_relaxed.owl Downslanting palpebral fissure|Antimongoloid slanted palpebral fissures|Downslanting palpebral fissures|Downward-slanting palpebral fissures|Down-slanted palpebral fissures|Down slanting palpebral fissures|Down-slanting palpebral fissure|Palpebral fissures down-slanted|Antimongoloid slant of palpebral fissures|Downward slanted palpebral fissures|Down-slanting palpebral fissures|Antimongoloid eye slant|Downward slanting of the opening between the eyelids|Downward slanting palpebral fissures SNOMEDCT_US:246800008|UMLS:C0423110 HP:0007908|HP:0007714 human_phenotype owl:Class UBERON:0001902 biolink:NamedThing epithelium of small intestine An epithelium that is part of a small intestine [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelial tissue of small intestine|small bowel epithelial tissue|mid intestine epithelium|small bowel epithelium|small intestine epithelium|epithelial tissue of small bowel|small intestinal epithelium|epithelium of small bowel|small intestine epithelial tissue BTO:0001258|EMAPA:35778|ZFA:0005127|TAO:0005127|MA:0001553|CALOHA:TS-2104|FMA:62017 uberon owl:Class Intestinal epithelium which lines the lumen of the mid intestine.[TAO] UBERON:0011313 biolink:NamedThing posterior subdivision of masseter tmpxe7fu0cj_hp_relaxed.owl masseter, posterior uberon owl:Class The posterior masseter is a separable part of the deep masseter muscle that attaches to the postero-ventral surface of the zygomatic arch.[FEED] NBO:0000032 biolink:NamedThing paralysis "Loss of power of voluntary movement in a muscle through injury or disease of its nerve supply." [JAX:] HP:0003470|MP:0000753 tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T01:18:37Z George Gkoutos behavior_ontology owl:Class HP:0031950 biolink:NamedThing Usual interstitial pneumonia Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing. tmpxe7fu0cj_hp_relaxed.owl 2018-07-06 12:27:18+00:00 Usual interstitial pneumonia (UIP) is usually identified by a honeycombing pattern in a CT scan; in contrast, diffuse interstitial pneumonia (DIP) is not associated with the honeycombing pattern of fibrotic tissue. DIP tends to stabilize or improve after treatment, UIP often continues to progress (irregular lines or honeycombing). Honeycombing, clustered cysts with well-defined walls involving the subpleural lung, is the key finding for making a definite diagnosis of UIP pattern. UIP is associated with autoimmune diseases such as rheumatoid arthritis (and rheumatoid arthritis-interstitial lung disease, or RA-ILD). peter owl:Class GO:0004993 biolink:NamedThing G protein-coupled serotonin receptor activity Combining with the biogenic amine serotonin and transmitting the signal across the membrane by activating an associated G-protein. Serotonin (5-hydroxytryptamine) is a neurotransmitter and hormone found in vertebrates and invertebrates. tmpxe7fu0cj_hp_relaxed.owl G protein coupled serotonin receptor activity|G-protein coupled serotonin receptor activity|5-HT receptor|5-hydroxytryptamine receptor https://github.com/geneontology/go-ontology/issues/12942 Wikipedia:5-HT_receptor GO:0016609|GO:0001585 molecular_function owl:Class GO:0099589 biolink:NamedThing serotonin receptor activity Combining with the biogenic amine serotonin and transmitting a signal across a membrane by activating some effector activity. Serotonin (5-hydroxytryptamine) is a neurotransmitter and hormone found in vertebrates and invertebrates. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class UBERON:0003573 biolink:NamedThing arm connective tissue A portion of connective tissue that is part of an arm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37316|MA:0000593 uberon owl:Class PR:000008894 biolink:NamedThing iduronate 2-sulfatase A protein that is a translation product of the human IDS gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl idursulfase|alpha-L-iduronate sulfate sulfatase|SIDS|IDS Category=gene. protein owl:Class CHEBI:59226 biolink:NamedThing N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucose An amino trisaccharide that is the carbohydrate portion of ganglioside GM3. It comprises a linear sequence of alpha-N-acetylneuraminyl, beta-D-galactosyl and beta-D-glucose residues linked (2->3) and (1->4). tmpxe7fu0cj_hp_relaxed.owl GM3 carbohydrate moiety|alpha-Neup5Ac-(2->3)-beta-D-Galp-(1->4)-beta-D-Glcp|a-Neu5Ac-(2->3)-b-D-Gal-(1->4)-D-Glc|3'-a-Sialyllactose|N-Acetylneuraminoyllactose|A2,3-Sialyllactose|3'-Sialyl-D-lactose|32-N-Acetyl-a-neuraminyllactose|alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc|alpha-Neu5Ac-(2->3)-beta-delta-Gal-(1->4)-delta-Glc|3'-N-Acetylneuraminyl-D-lactose|32-N-Acetyl-alpha-neuraminyllactose|3'-sialyllactose|3'-alpha-Sialyllactose|alpha-Neu5Ac-(2->3)-beta-D-Gal-(->4)-D-Glc|N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucose|3'-(N-Acetyl-alpha-neuraminosyl)lactose|(2->3')-alpha-Sialyllactose|Neu5Aca2-3Galb1-4Glcb|3'-N-Acetylneuraminyl-delta-lactose|(2->3')-a-Sialyllactose|5-acetamido-3,5-dideoxy-D-glycero-alpha-D-galacto-non-2-ulopyranonosyl-(2->3)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranose|3'-(N-Acetyl-a-neuraminosyl)lactose|3'-Sialyl-delta-lactose|Neu5Acalpha2-3Galbeta1-4Glcbeta|(6R)-5-(acetylamino)-3,5-dideoxy-6-[(1R,2R)-1,2,3-trihydroxypropyl]-beta-L-threo-hex-2-ulopyranonosyl-(2->3)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranose|3'-Monosialyllactose|alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucose|WURCS=2.0/3,3,2/[a2122h-1b_1-5][a2112h-1b_1-5][Aad21122h-2a_2-6_5*NCC/3=O]/1-2-3/a4-b1_b3-c2|(2S,4S,5R,6R)-2-{[(2R,3S,4S,5R,6S)-3,5-dihydroxy-2-(hydroxymethyl)-6-{[(2R,3R,4R,5R)-1,2,4,5-tetrahydroxy-6-oxohexan-3-yl]oxy}oxan-4-yl]oxy}-5-acetamido-4-hydroxy-6-[(1R,2R)-1,2,3-trihydroxypropyl]oxane-2-carboxylic acid 0 C23H39NO19 InChI=1S/C23H39NO19/c1-6(28)24-11-7(29)2-23(22(37)38,42-18(11)12(31)8(30)3-25)43-19-13(32)9(4-26)40-21(16(19)35)41-17-10(5-27)39-20(36)15(34)14(17)33/h7-21,25-27,29-36H,2-5H2,1H3,(H,24,28)(H,37,38)/t7-,8+,9+,10+,11+,12+,13-,14+,15+,16+,17+,18+,19-,20+,21-,23-/m0/s1 CILYIEBUXJIHCO-UITFWXMXSA-N 633.55110 633.21163 CC(=O)N[C@@H]1[C@@H](O)C[C@@](O[C@H]2[C@@H](O)[C@@H](CO)O[C@@H](O[C@@H]3[C@@H](CO)O[C@@H](O)[C@H](O)[C@H]3O)[C@@H]2O)(O[C@H]1[C@H](O)[C@H](O)CO)C(O)=O PMID:6672002|HMDB:HMDB0000825|PMID:15179041|PMID:31537530|Beilstein:4632263|Reaxys:4632263|PMID:11164910|PMID:14613940|PMID:3142362|PMID:25568069|PMID:12058986|PMID:510308|GlyGen:G91237TK|PMID:7706301|GlyTouCan:G91237TK|PMID:7507746|PMID:24027187|PMID:12950597|PMID:599156|PMID:19443021|PMID:3768140|PMID:33164488 CHEBI:85038 chebi_ontology owl:Class HP:0012798 biolink:NamedThing Pulmonary lymphangiomyomatosis Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls. tmpxe7fu0cj_hp_relaxed.owl Pulmonary myomatosis|Lymphangioleiomyomatosis UMLS:C0238399|UMLS:C0751674|MSH:D018192|SNOMEDCT_US:73017001 Pulmonary lymphangiomyomatosis is a manifestation of lymphangioleiomyomatosis, which may also affect extrapulmonary locations. It can be seen in tuberous sclerosis. peter 2014-05-24T05:00:46Z human_phenotype owl:Class HP:0011469 biolink:NamedThing Nasal regurgitation Regurgitation of milk through the nose. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0232608|SNOMEDCT_US:85023004 peter 2012-03-25T07:52:19Z human_phenotype owl:Class GO:0051549 biolink:NamedThing positive regulation of keratinocyte migration Any process that activates or increases the frequency, rate or extent of keratinocyte migration. tmpxe7fu0cj_hp_relaxed.owl activation of keratinocyte migration|upregulation of keratinocyte migration|up-regulation of keratinocyte migration|stimulation of keratinocyte migration|up regulation of keratinocyte migration biological_process owl:Class HP:0009791 biolink:NamedThing Bifid sacrum Presence of a bifid sacral bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024204 peter 2009-02-03T05:22:25Z human_phenotype owl:Class HP:0004419 biolink:NamedThing Recurrent thrombophlebitis Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). tmpxe7fu0cj_hp_relaxed.owl Recurrent thrombosis|Recurrent phlebitis UMLS:C3550150 peter 2008-03-18T09:31:00Z human_phenotype owl:Class HP:0032070 biolink:NamedThing Leptomeningeal enhancement Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis. tmpxe7fu0cj_hp_relaxed.owl 2018-09-30 15:02:42+00:00 Contrast material enhancement for cross-sectional imaging in computed tomography and magnetic resonance imaging can be related to intravascular (vascular) enhancement and interstitial (extravascular) enhancement. peter owl:Class HP:0100036 biolink:NamedThing Pseudo-fractures A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture. tmpxe7fu0cj_hp_relaxed.owl Looser zones UMLS:C4021028 Typical sites of involvement are the axillary margins of the scapula, ribs, pubic rami, proximal ends of the femur and ulna. On x-rays pseudo-fractures appear as a lucent line about 1 -2 cm wide, vertical to the cortex and are pathognomonic of osteomalacia, seen on the concave side and are also seen in Paget disease on the convex side of the bone. doelkens 2010-06-14T05:25:53Z human_phenotype owl:Class HP:0001972 biolink:NamedThing Macrocytic anemia A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). tmpxe7fu0cj_hp_relaxed.owl Macrocytic anaemia UMLS:C0002886|SNOMEDCT_US:83414005|MSH:D000748 The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes. human_phenotype owl:Class UBERON:0001557 biolink:NamedThing upper respiratory tract The segment of the respiratory tract that starts proximally with the nose and ends distally with the cricoid cartilage, before continuing to the trachea. tmpxe7fu0cj_hp_relaxed.owl MA:0000442|OpenCyc:Mx4rtT2HwgJMEdyAAADggVbxzQ|FMA:45661|EMAPA:17669|VHOG:0000406|EHDAA2:0002136 http://upload.wikimedia.org/wikipedia/commons/9/9f/Illu_conducting_passages.svg|http://upload.wikimedia.org/wikipedia/commons/c/c3/Illu_conducting_passages.jpg uberon owl:Class Some specify that the glottis (vocal cords) is the defining line between the upper and lower respiratory tracts;[2] yet even others make the line at the cricoid cartilage. The FMA includes nose, nasopharynx, oropharynx and larynx[WP] GO:0045724 biolink:NamedThing positive regulation of cilium assembly Any process that activates or increases the frequency, rate or extent of the formation of a cilium. tmpxe7fu0cj_hp_relaxed.owl stimulation of cilium assembly|up regulation of cilium assembly|positive regulation of flagellum assembly|positive regulation of flagellum biogenesis|activation of cilium assembly|upregulation of cilium assembly|up-regulation of cilium assembly biological_process owl:Class HP:0031194 biolink:NamedThing Increased density of left ventricular trabeculae An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae). tmpxe7fu0cj_hp_relaxed.owl 2017-06-24 14:13:54+00:00 peter owl:Class HP:0031192 biolink:NamedThing Abnormal morphology of left ventricular trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae). tmpxe7fu0cj_hp_relaxed.owl 2017-06-24 14:10:09+00:00 peter owl:Class HP:0009105 biolink:NamedThing Abnormal ossification of the pubic bone Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis. tmpxe7fu0cj_hp_relaxed.owl Abnormal maturation of the pubic bone UMLS:C4024596|UMLS:C4280403 peter 2008-04-04T08:41:00Z human_phenotype owl:Class HP:0032261 biolink:NamedThing Nontuberculous mycobacterial pulmonary infection An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 18:38:45+00:00 Historically, human infections due to Mycobacterium were due almost exclusively to Mycobacterium tuberculosis (TB); the extensive societal impact of this infection is legendary. More recently, other species of mycobacterium causing clinical disease have been identified and, in many geographical regions, cause greater disease burden than TB. These organisms are referred to by a variety of collective names such as anonymous or atypical mycobacteria, mycobacteria other than tuberculosis (MOTT) and nontuberculous mycobacteria (NTM). peter owl:Class PATO:0001923 biolink:NamedThing mislocalised laterally A positional quality inhering in a bearer by virtue of the bearer's being positioned towards the side of an organism. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0009576 biolink:NamedThing Absent middle phalanx of 2nd finger Absence of the middle phalanx of the index (2nd) finger. tmpxe7fu0cj_hp_relaxed.owl Absent middle bone of index finger|Absent middle phalanx of index finger|Aplasia of the middle phalanx of the 2nd finger UMLS:C4021436 doelkens 2009-01-28T05:15:55Z HP:0005760 human_phenotype owl:Class GO:0016835 biolink:NamedThing carbon-oxygen lyase activity Catalysis of the breakage of a carbon-oxygen bond. tmpxe7fu0cj_hp_relaxed.owl other carbon-oxygen lyase activity EC:4.2.-.- molecular_function owl:Class HP:0007401 biolink:NamedThing Macular atrophy Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:238828009|UMLS:C1288283|MSH:D057088 human_phenotype owl:Class HP:0041181 biolink:NamedThing Fractured distal phalanx of pedal digit 3 A partial or complete breakage of the distal phalanx of pedal digit 3. tmpxe7fu0cj_hp_relaxed.owl bone distal phalanx of pedal digit 3 owl:Class GO:0032351 biolink:NamedThing negative regulation of hormone metabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:50320 biolink:NamedThing nucleoside residue tmpxe7fu0cj_hp_relaxed.owl nucleoside residues chebi_ontology owl:Class GO:0150052 biolink:NamedThing regulation of postsynapse assembly Any process that modulates the frequency, rate or extent of postsynapse assembly, the aggregation, arrangement and bonding together of a set of components to form a postsynapse. tmpxe7fu0cj_hp_relaxed.owl bc 2018-05-08T16:38:55Z biological_process owl:Class HP:0010025 biolink:NamedThing Triangular epiphysis of the 1st metacarpal tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the 1st long bone of hand UMLS:C4024099 doelkens 2009-05-27T04:02:50Z human_phenotype owl:Class UBERON:0015281 biolink:NamedThing pancreas right lobe A pancreatic lobule that is in_the_right_side_of a exocrine pancreas. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37712|MA:0000723 uberon owl:Class HP:0010643 biolink:NamedThing Midnasal atresia Absence or abnormal closure of the midnasal cavity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023762 doelkens 2009-12-17T05:06:01Z human_phenotype owl:Class HP:0010644 biolink:NamedThing Midnasal stenosis Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress. tmpxe7fu0cj_hp_relaxed.owl Midnasal atresia or stenosis UMLS:C1840238 doelkens 2009-12-17T05:06:01Z HP:0010642 human_phenotype owl:Class HP:0033218 biolink:NamedThing Glomerular hyalinosis at the tubular pole Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. tmpxe7fu0cj_hp_relaxed.owl 2020-10-24 12:19:40+00:00 Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. peter owl:Class HP:0034125 biolink:NamedThing Anti-GD1b IgM antibody positivity The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:47:11+00:00 peter owl:Class HP:0034124 biolink:NamedThing Anti-GD1b antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:46:10+00:00 peter owl:Class MPATH:1 biolink:NamedThing cell and tissue damage The sum of morphological and functional disturbances induced by cell and tissue damage, either from intrinsic gene dysfunction or as a result of external factors. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0000316 biolink:NamedThing Hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). tmpxe7fu0cj_hp_relaxed.owl Increased distance between eyes|Increased interpupillary distance|Widened interpupillary distance|Wide-set eyes|Increased distance between eye sockets|Excessive orbital separation|Widely spaced eyes|Ocular hypertelorism MSH:D006972|UMLS:C0020534|SNOMEDCT_US:194021007|SNOMEDCT_US:22006008 HP:0000578|HP:0004657|HP:0002001|HP:0007871 human_phenotype owl:Class HP:0033513 biolink:NamedThing Cocaine addiction Addiction to cocaine. tmpxe7fu0cj_hp_relaxed.owl Cocaine dependence 2021-01-13 12:21:42+00:00 peter owl:Class HP:0011654 biolink:NamedThing Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. tmpxe7fu0cj_hp_relaxed.owl DORV with non-committed VSD without pulmonary stenosis|Double outlet right ventricle, noncommitted ventricular septal defect UMLS:C4023245|Fyler:0603|Fyler:603 peter 2012-04-09T10:06:32Z human_phenotype owl:Class HP:0012845 biolink:NamedThing Single trichilemmoma Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022710 peter 2014-06-06T08:06:37Z human_phenotype owl:Class HP:0012844 biolink:NamedThing Trichilemmoma A benign tumour originating from the outer root sheath of the hair follicle. tmpxe7fu0cj_hp_relaxed.owl Tricholemmoma UMLS:C0334263|SNOMEDCT_US:274900003|SNOMEDCT_US:46199002 peter 2014-06-06T08:05:05Z human_phenotype owl:Class HP:0020208 biolink:NamedThing Eating-induced seizure A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period. tmpxe7fu0cj_hp_relaxed.owl robinp 2020-02-24 13:39:28+00:00 owl:Class HP:0012571 biolink:NamedThing Ureter fissus A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder. tmpxe7fu0cj_hp_relaxed.owl Partially duplicated ureter UMLS:C4021079|ICD-10:Q62.5 This anomaly is only seen in the presence of renal duplication. peter 2014-01-16T11:38:41Z human_phenotype owl:Class HP:0002926 biolink:NamedThing Abnormality of thyroid physiology An abnormal functionality of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Abnormal thyroid function UMLS:C0857576 human_phenotype owl:Class HP:0003231 biolink:NamedThing Hypertyrosinemia An increased concentration of tyrosine in the blood. tmpxe7fu0cj_hp_relaxed.owl Tyrosinemia|Increased tyrosine in blood UMLS:C1879362|SNOMEDCT_US:56595005 Defect in fumarylacetoacetase. human_phenotype owl:Class HP:0033424 biolink:NamedThing Pulmonary arterial hypertension with lack of acute response to NO challenge A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm). tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 17:34:32+00:00 peter owl:Class HP:0002092 biolink:NamedThing Pulmonary arterial hypertension Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. tmpxe7fu0cj_hp_relaxed.owl Primary pulmonary hypertension|Increased blood pressure in blood vessels of lungs|Pulmonary artery hypertension UMLS:C2973725|UMLS:C3203102|SNOMEDCT_US:11399002|SNOMEDCT_US:697898008|MSH:D006976|MSH:D065627|UMLS:C0020542|SNOMEDCT_US:70995007 Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used. HP:0006546 owl:Class HP:0004646 biolink:NamedThing Hypoplasia of the nasal bone Underdevelopment of the nasal bone. tmpxe7fu0cj_hp_relaxed.owl Deficiency of nasal bone|Hypotrophic nasal bone|Nasal bone hypoplasia|Decreased size of nasal bone|Small nasal bone|Underdevelopment of nasal bone UMLS:C4021651 owl:Class HP:0010940 biolink:NamedThing Aplasia/Hypoplasia of the nasal bone Absence or underdevelopment of the nasal bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023636 peter 2011-01-16T02:31:16Z owl:Class CHEBI:33433 biolink:NamedThing monoatomic halogen tmpxe7fu0cj_hp_relaxed.owl monoatomic halogens chebi_ontology owl:Class HP:0020076 biolink:NamedThing Wrist ganglion A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule. tmpxe7fu0cj_hp_relaxed.owl Ganglion cyst of the wrist 2019-02-25 13:18:34+00:00 Thirteen to twenty percent of ganglia are found on the volar aspect of the wrist, arising via a pedicle from the radio scaphoid/scapholunate interval, scaphotrapezial joint, or the metacarpotrapezial joint, in that order of frequency. robinp owl:Class HP:0030014 biolink:NamedThing Female sexual dysfunction A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity tmpxe7fu0cj_hp_relaxed.owl UMLS:C1112442 owl:Class HP:0006880 biolink:NamedThing Cerebellar hemangioblastoma A hemangioblastoma of the cerebellum. tmpxe7fu0cj_hp_relaxed.owl Hemangioblastoma, sporadic cerebellar UMLS:C1332900|NCIT:C3801 HP:0006761 owl:Class HP:0008826 biolink:NamedThing Dislocation of the femoral head Joint dislocation of the femoral head. tmpxe7fu0cj_hp_relaxed.owl Dislocated femoral heads|Dislocated head of thigh bone UMLS:C1859446 human_phenotype owl:Class HP:0032592 biolink:NamedThing Aplasia of the right hemidiaphragm Congenital absence of the right-sided diaphragm. tmpxe7fu0cj_hp_relaxed.owl Right diaphragmatic hernia peter owl:Class HP:0040047 biolink:NamedThing Abnormal right hemidiaphragm morphology tmpxe7fu0cj_hp_relaxed.owl Abnormality of the right hemidiaphragm UMLS:C4022470 HPO:skoehler owl:Class HP:0000110 biolink:NamedThing Renal dysplasia The presence of developmental dysplasia of the kidney. tmpxe7fu0cj_hp_relaxed.owl Renal adysplasia|Dysplastic kidneys SNOMEDCT_US:204949001|UMLS:C1619700|UMLS:C3536714|MSH:C563261 HP:0004721|HP:0000116 human_phenotype owl:Class HP:0012750 biolink:NamedThing T2 hypointense brainstem A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022746 peter 2014-03-30T06:44:29Z human_phenotype owl:Class HP:0012747 biolink:NamedThing Abnormal brainstem MRI signal intensity A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022749 peter 2014-03-30T06:41:13Z human_phenotype owl:Class HP:0004469 biolink:NamedThing Chronic bronchitis Chronic inflammation of the bronchi. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:63480004|UMLS:C0008677|MSH:D029481 human_phenotype owl:Class CHEBI:35143 biolink:NamedThing hemoglobin tmpxe7fu0cj_hp_relaxed.owl hemoglobin|haemoglobin|vertebrate haemoglobin COMe:PRX000321 chebi_ontology owl:Class CHEBI:5386 biolink:NamedThing globin tmpxe7fu0cj_hp_relaxed.owl globins|Globin|pentacoordinate globin KEGG:C06258|COMe:PRX000257 chebi_ontology owl:Class HP:0002425 biolink:NamedThing Anarthria A defect in the motor ability that enables speech. tmpxe7fu0cj_hp_relaxed.owl Loss of articulate speech SNOMEDCT_US:48257004|UMLS:C0234517 owl:Class HP:0033049 biolink:NamedThing Globus pallidus hypointensity on susceptibility-weighted imaging Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI). tmpxe7fu0cj_hp_relaxed.owl Susceptibility-weighted imaging (SWI) is a relatively new magnetic resonance (MR) technique that exploits the magnetic susceptibility differences of various tissues, such as blood, iron and calcification, as a new source of contrast enhancement. Low SWI signal intensity may suggest deposition of paramagnetic material. peter owl:Class HP:0032934 biolink:NamedThing Spontaneous cerebrospinal fluid leak A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak). tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0005186 biolink:NamedThing Synovial hypertrophy tmpxe7fu0cj_hp_relaxed.owl MSH:D013585|SNOMEDCT_US:240206002|UMLS:C0410574 human_phenotype owl:Class HP:0030043 biolink:NamedThing Hip subluxation A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket. tmpxe7fu0cj_hp_relaxed.owl Partial hip dislocation|Subluxation involving the hip joint UMLS:C0434785|SNOMEDCT_US:263057000 owl:Class UBERON:0009713 biolink:NamedThing endocardium of left ventricle Any endocardium that is part of the left ventricle of the heart. tmpxe7fu0cj_hp_relaxed.owl left ventricle endocardium|left ventricular endocardium|left ventricle endocardial tissue|endocardial lining of left ventricle EMAPA:17338|VHOG:0001233|EHDAA2:0002182|SCTID:191004004|FMA:9559 uberon owl:Class Endocardium of ventricle which is continuous with mitral valve, aortic valve, atrioventricular septum and the tunica intima of the aorta. CL:1000303 biolink:NamedThing fibroblast of areolar connective tissue A fibroblast that is part of the areolar connective tissue. tmpxe7fu0cj_hp_relaxed.owl FMA:261279 cell owl:Class UBERON:0004124 biolink:NamedThing myocardium trabecular layer The layer of the myocardium composed of projections of contractile myocytes. The trabecular layer is bounded internally by the endocardium. In zebrafish, unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae have more strut-like character, and are more uniform without apparent regional differences[ZFA]. tmpxe7fu0cj_hp_relaxed.owl trabecula of heart muscle|heart muscle trabeculae|trabeculae|trabecular layer|myocardial trabeculae carneae|heart muscle trabecula|myocardial trabecular layer EFO:0003706|TAO:0005059|ZFA:0005059|MA:0002866 uberon owl:Class The layer of the myocardium composed of projections of contractile myocytes. The trabecular layer is bounded internally by the the endocardium. Unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae of the zebrafish have more strut-like character, and are more uniform without apparent regional differences Hu et al. 2001.[TAO] HP:0031360 biolink:NamedThing Yellow skin plaque A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 15:56:50+00:00 peter owl:Class CL:0002028 biolink:NamedThing basophil mast progenitor cell A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa tmpxe7fu0cj_hp_relaxed.owl BMCP There may be an intermediate cell type. These cells also CD13-positive, CD16-positive, CD32-positive, and integrin beta 7-positive. Transcription factors: GATA1-positive, MCP-1-positive, mitf-positive, PU.1-positive, and CEBP/a-low. tmeehan 2010-04-27T12:46:33Z cell owl:Class GO:2001019 biolink:NamedThing positive regulation of retrograde axon cargo transport Any process that activates or increases the frequency, rate or extent of retrograde axon cargo transport. tmpxe7fu0cj_hp_relaxed.owl positive regulation of retrograde axonal transport kmv 2011-08-11T09:44:49Z biological_process owl:Class CHEBI:176497 biolink:NamedThing geroprotector Any compound that supports healthy aging, slows the biological aging process, or extends lifespan. tmpxe7fu0cj_hp_relaxed.owl geroprotective agent|anti-aging agent|anti-aging agents|anti-aging drugs|anti-aging drug|geroprotectors|geroprotective agents PMID:23372317|PMID:33973253|PMID:34606237|PMID:28580190|Wikipedia:Geroprotector|PMID:33144142|PMID:30885572 chebi_ontology owl:Class HP:0033244 biolink:NamedThing Glycogen accumulation in pulmonary interstitial cells Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells. tmpxe7fu0cj_hp_relaxed.owl 2020-11-25 11:33:29+00:00 peter owl:Class HP:0100711 biolink:NamedThing Abnormal thoracic spine morphology An abnormality of the thoracic vertebral column. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the thoracic spine UMLS:C4021989 doelkens 2011-05-05T09:37:17Z owl:Class GO:0000003 biolink:NamedThing reproduction The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms. tmpxe7fu0cj_hp_relaxed.owl reproductive physiological process Wikipedia:Reproduction GO:0050876|GO:0019952 biological_process owl:Class HP:0006165 biolink:NamedThing Proportionate shortening of all digits tmpxe7fu0cj_hp_relaxed.owl Proportionate shortening of all digits UMLS:C1862157 human_phenotype owl:Class HsapDv:0000082 biolink:NamedThing newborn human stage Immature stage that refers to a newborn who is under 32 days old. tmpxe7fu0cj_hp_relaxed.owl 0-1 month|neonate|neonatal stage human_developmental_stage 1.0 0.083 owl:Class GO:0045606 biolink:NamedThing positive regulation of epidermal cell differentiation Any process that activates or increases the frequency, rate or extent of epidermal cell differentiation. tmpxe7fu0cj_hp_relaxed.owl upregulation of epidermal cell differentiation|up regulation of epidermal cell differentiation|stimulation of epidermal cell differentiation|activation of epidermal cell differentiation|positive regulation of hypodermal cell differentiation|up-regulation of epidermal cell differentiation biological_process owl:Class UBERON:0007174 biolink:NamedThing medial border of scapula The medial border of the scapula (vertebral border, medial margin) is the longest of the three borders, and extends from the medial to the inferior angle. It is arched, intermediate in thickness between the superior and the axillary borders, and the portion of it above the spine forms an obtuse angle with the part below. This border presents an anterior and a posterior lip, and an intermediate narrow area. The anterior lip affords attachment to the Serratus anterior; the posterior lip, to the Supraspinatus above the spine, the Infraspinatus below; the area between the two lips, to the Levator scapulC& above the triangular surface at the commencement of the spine, to the Rhomboideus minor on the edge of that surface, and to the Rhomboideus major below it; this last is attached by means of a fibrous arch, connected above to the lower part of the triangular surface at the base of the spine, and below to the lower part of the border. tmpxe7fu0cj_hp_relaxed.owl margo medialis scapulae|vertebral border of scapula|vertebral border of the scapula|medial part of scapula|vertebral border|medial margin of the scapula|medial border of the scapula|margo medialis (scapula) FMA:23242|EMAPA:25127 consider merging with UBERON:1500000 scapular blade, depending on https://github.com/obophenotype/uberon/issues/339. See also http://www.ncbi.nlm.nih.gov/pubmed/20136669 uberon owl:Class HP:0006865 biolink:NamedThing Sensorimotor polyneuropathy affecting arms more than legs tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024974 owl:Class HP:0031468 biolink:NamedThing Separation insecurity Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 16:39:37+00:00 peter owl:Class GO:0061100 biolink:NamedThing lung neuroendocrine cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuroendocrine cell of the lung epithelium. tmpxe7fu0cj_hp_relaxed.owl dph 2010-04-27T03:28:46Z biological_process owl:Class CHEBI:16716 biolink:NamedThing benzene A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system. tmpxe7fu0cj_hp_relaxed.owl cyclohexatriene|Coal naphtha|benzole|Benzene|Bicarburet of hydrogen|Mineral naphtha|Phene|BENZENE|phenyl hydride|benzene|Benzol|Benzen|Pyrobenzole|Benzine|Pyrobenzol|[6]annulene 0 C6H6 InChI=1S/C6H6/c1-2-4-6-5-3-1/h1-6H UHOVQNZJYSORNB-UHFFFAOYSA-N 78.11184 78.04695 c1ccccc1 PMID:6353911|PMID:18407866|PMID:23222815|Beilstein:969212|CAS:71-43-2|KEGG:C01407|PMID:17373369|PDBeChem:BNZ|HMDB:HMDB0001505|PMID:23534829|PMID:8124204|PMID:19228219|PMID:12857942|PMID:14677922|PMID:15935818|PMID:11993966|PMID:21325737|Gmelin:1671|PMID:18072742|Reaxys:969212|PMID:18836923|PMID:11684179|UM-BBD_compID:c0142|PMID:15468289|PMID:16161967|Wikipedia:Benzene|PMID:23088855|PMID:18409691 CHEBI:3025|CHEBI:13876|CHEBI:41187|CHEBI:22703 chebi_ontology owl:Class GO:0001701 biolink:NamedThing in utero embryonic development tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0010800 biolink:NamedThing Absent cupid's bow Lack of paramedian peaks and median notch of the upper lip vermilion. tmpxe7fu0cj_hp_relaxed.owl Lack of cupid's bow|Absent cupid's bow|Aplasia of cupid's bow|Failure of development of cupid's bow|Agenesis of cupid's bow|Missing cupid's bow UMLS:C2053435 This bow is often absent in a Thin vermilion of the upper lip, but that should be assessed separately. This finding is commonly associated with Smooth philtrum, but that should be coded separately. peter 2010-06-26T02:01:31Z human_phenotype owl:Class HP:0012389 biolink:NamedThing Appendicular hypotonia Muscular hypotonia of one or more limbs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022919 peter 2013-11-07T07:31:51Z human_phenotype owl:Class HP:0031597 biolink:NamedThing PR segment elevation An increase in voltage of the PR segment above baseline. tmpxe7fu0cj_hp_relaxed.owl PTa elevation|PR interval elevation 2017-10-15 13:45:12+00:00 peter owl:Class HP:0004231 biolink:NamedThing Carpal bone aplasia Congenital absence of a carpal bone. tmpxe7fu0cj_hp_relaxed.owl Absent wrist bone|Absent carpal bone|Absent carpal ossification centre|Absent carpal bones|Absent carpal ossification center|Aplastic carpal bone|Missing wrist bone UMLS:C1836219|UMLS:C4280537 Radiographically difficult to distinguish between absent ossification of a carpal bone. HP:0006084|HP:0006020|HP:0005056 human_phenotype owl:Class HP:0006502 biolink:NamedThing Aplasia/Hypoplasia involving the carpal bones Absence or underdevelopment of the carpal bones. tmpxe7fu0cj_hp_relaxed.owl Absent/small wrist bones|Absent/underdeveloped wrist bones UMLS:C4025033 peter 2008-03-28T06:35:00Z human_phenotype owl:Class CHEBI:33459 biolink:NamedThing pnictogen oxoanion tmpxe7fu0cj_hp_relaxed.owl pnictogen oxoanions|pnictogen oxoanion chebi_ontology owl:Class HP:0012903 biolink:NamedThing Myotonia of the upper limb Slowed relaxation of muscles in the arm. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022683 peter 2014-06-23T11:19:18Z human_phenotype owl:Class HP:0005026 biolink:NamedThing Mesomelic/rhizomelic limb shortening tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866239 human_phenotype owl:Class HP:0008905 biolink:NamedThing Rhizomelia Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). tmpxe7fu0cj_hp_relaxed.owl Rhizomelic short limbs|Rhizomelic dwarfism|Rhizomelic shortening|Rhizomelic limb shortening|Rhizomelic short stature|Disproportionately short upper portion of limb|Symmetrical rhizomelic limb shortening|Short stature, rhizomelic UMLS:C1866730 HP:0003520|HP:0008877|HP:0002968|HP:0008852 human_phenotype owl:Class UBERON:0001419 biolink:NamedThing skin of limb A zone of skin that is part of a limb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl limb skin|zone of skin of limb|limb zone of skin NCIT:C53276|FMA:23100|EMAPA:32726|MA:0000694|UMLS:C1282135 uberon owl:Class HP:0041199 biolink:NamedThing Fractured interphalangeal joint A partial or complete breakage of the interphalangeal joint. tmpxe7fu0cj_hp_relaxed.owl bone interphalangeal joint owl:Class HP:0002681 biolink:NamedThing Deformed sella turcica tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of sella turcica|Deformity of pituitary fossa|Malformation of pituitary fossa|Deformity of hypophysial fossa|Malformation of hypophysial fossa|Abnormal shape of hypophysial fossa|Abnormal shape of pituitary fossa|Malformation of sella turcica UMLS:C1846437 human_phenotype owl:Class GO:0014861 biolink:NamedThing regulation of skeletal muscle contraction via regulation of action potential Any process that modulates the frequency, rate or extent of skeletal muscle contraction by depolarization of muscle membrane and ionic fluxes. tmpxe7fu0cj_hp_relaxed.owl regulation of skeletal muscle contraction via membrane action potential biological_process owl:Class GO:0036094 biolink:NamedThing small molecule binding Binding to a small molecule, any low molecular weight, monomeric, non-encoded molecule. tmpxe7fu0cj_hp_relaxed.owl Small molecules in GO include monosaccharides but exclude disaccharides and polysaccharides. bf 2012-01-17T04:20:34Z molecular_function owl:Class HP:0032424 biolink:NamedThing Increased HDL2b concentration An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:46:32+00:00 peter owl:Class HP:0032422 biolink:NamedThing Abnormal HDL2b concentration Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:45:07+00:00 peter owl:Class HP:0200127 biolink:NamedThing Atrial cardiomyopathy Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021885 sebastiankohler 2013-06-11T11:27:27Z human_phenotype owl:Class HP:0034092 biolink:NamedThing Anti-cyclic citrullinated peptide antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide. tmpxe7fu0cj_hp_relaxed.owl Anti-CCP antibody positivity 2021-12-19 02:42:01+00:00 peter owl:Class GO:1902034 biolink:NamedThing negative regulation of hematopoietic stem cell proliferation Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic stem cell proliferation. tmpxe7fu0cj_hp_relaxed.owl downregulation of hematopoietic stem cell proliferation|down regulation of hemopoietic stem cell proliferation|down-regulation of hemopoietic stem cell proliferation|inhibition of hematopoietic stem cell proliferation|inhibition of hemopoietic stem cell proliferation|down regulation of hematopoietic stem cell proliferation|down-regulation of hematopoietic stem cell proliferation|downregulation of hemopoietic stem cell proliferation|negative regulation of hemopoietic stem cell proliferation ss 2013-04-02T05:13:24Z biological_process owl:Class HP:0031431 biolink:NamedThing Persistent repetition of words Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others. tmpxe7fu0cj_hp_relaxed.owl 2017-09-16 12:14:57+00:00 peter owl:Class GO:1903119 biolink:NamedThing protein localization to actin cytoskeleton A process in which a protein is transported to, or maintained in, the location of an actin cytoskeleton. tmpxe7fu0cj_hp_relaxed.owl protein localisation in actin cytoskeleton|protein localization in actin cytoskeleton|protein localisation to actin cytoskeleton mah 2014-06-16T11:27:09Z biological_process owl:Class GO:0044380 biolink:NamedThing protein localization to cytoskeleton A process in which a protein is transported to, or maintained in, a location within the cytoskeleton. tmpxe7fu0cj_hp_relaxed.owl protein localisation to cytoskeleton jl 2011-12-13T11:43:24Z biological_process owl:Class HP:0033366 biolink:NamedThing Exogenous lipoid pneumonia A type of lipoid pneumonia in which the source of the lipids is external to the body. tmpxe7fu0cj_hp_relaxed.owl 2020-12-16 11:50:51+00:00 Endogenous lipoid pneumonia is a histopathologic diagnosis made on the basis of the characteristic appearance of the obstructive pneumonitis. Macroscopically, there is parenchymal consolidation that has a characteristic yellowish discoloration due to the accumulation of lipid in the alveoli. Histologically, there is an accumulation of lipid-filled macrophages and eosinophilic proteinaceous material derived from degenerating cells, including surfactant from type II pneumocytes, in the alveoli distal to the bronchial obstruction. peter owl:Class UBERON:0010332 biolink:NamedThing epithelium of handplate An epithelium that is part of a handplate. tmpxe7fu0cj_hp_relaxed.owl handplate epithelium EHDAA2:0000730|EMAPA:32630 uberon owl:Class HP:0030119 biolink:NamedThing Abnormal muscle fiber calpain-3 A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre calpain-3 UMLS:C4022626 owl:Class HP:0009335 biolink:NamedThing Absent epiphysis of the distal phalanx of the 3rd finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Absent end part of the outermost bone of the middle finger UMLS:C4024432 doelkens 2009-01-12T11:18:33Z human_phenotype owl:Class HP:0009691 biolink:NamedThing Irregular thumb epiphysis Uneven radiographic opacity of the one or more epiphyses of the thumb. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of thumb long bone|Irregular epiphyses of the thumb UMLS:C4021404 doelkens 2009-01-30T09:20:16Z human_phenotype owl:Class HP:0006286 biolink:NamedThing Yellow-brown discoloration of the teeth tmpxe7fu0cj_hp_relaxed.owl Yellow-brown discoloured teeth|Yellow-brown tooth shade|Yellow-brown discoloration of the teeth|Yellow-brown discolored teeth UMLS:C1863008 human_phenotype owl:Class CHEBI:36359 biolink:NamedThing phosphorus oxoacid derivative tmpxe7fu0cj_hp_relaxed.owl phosphorus oxoacid derivative chebi_ontology owl:Class HP:0012573 biolink:NamedThing Global proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022839 peter 2014-01-16T12:27:40Z human_phenotype owl:Class HP:0008687 biolink:NamedThing Hypoplasia of the prostate tmpxe7fu0cj_hp_relaxed.owl Underdeveloped prostate|Hypoplastic prostate UMLS:C1844923 human_phenotype owl:Class HP:0006118 biolink:NamedThing Shortening of all distal phalanges of the fingers Hypoplasia of all of the distal phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Shortening of all outermost bones of the fingers|Brachytelephalangy UMLS:C4021608 HP:0005658 human_phenotype owl:Class CHEBI:33308 biolink:NamedThing carboxylic ester An ester of a carboxylic acid, R(1)C(=O)OR(2), where R(1) = H or organyl and R(2) = organyl. tmpxe7fu0cj_hp_relaxed.owl carboxylic acid esters|Carboxylic ester|a carboxylic ester|carboxylic esters 0 CO2R2 44.010 43.98983 [*]C(=O)O[*] Wikipedia:Ester|KEGG:C02391 CHEBI:13204|CHEBI:3408|CHEBI:23028 chebi_ontology owl:Class HP:0012629 biolink:NamedThing Phakodonesis Tremulousness (trembling) of the lens of the eye. tmpxe7fu0cj_hp_relaxed.owl Phacodonesis|Trembling eye lens SNOMEDCT_US:116669003|UMLS:C2939415 Phacodonesis results from lesions of some or most of the zonular fibres are broken. peter 2014-01-17T11:03:09Z human_phenotype owl:Class HP:0009054 biolink:NamedThing Scapuloperoneal myopathy tmpxe7fu0cj_hp_relaxed.owl MSH:C536624|UMLS:C2931268 human_phenotype owl:Class CHEBI:76725 biolink:NamedThing EC 1.* (oxidoreductase) inhibitor An enzyme inhibitor which interferes with the action of an oxidoreductase (EC 1.*.*.*). tmpxe7fu0cj_hp_relaxed.owl oxidoreductase (EC 1.*) inhibitor|EC 1.* (oxidoreductase) inhibitors|oxidoreductase inhibitor|EC 1.* inhibitors|EC 1.* inhibitor|oxidoreductase inhibitors|oxidoreductase (EC 1.*) inhibitors Wikipedia:Oxidoreductase chebi_ontology owl:Class UBERON:0001733 biolink:NamedThing soft palate The muscular, non-bony arch-shaped posterior portion of the palate extending from the posterior edge of the hard palate. tmpxe7fu0cj_hp_relaxed.owl muscular palate|palatum molle|velum palatinum|velum EMAPA:18949|UMLS:C0030219|MIAA:0000039|MESH:D010160|FMA:55021|NCIT:C12231|GAID:1284|BTO:0005405|MA:0002412|MAT:0000039 Tonsils:diagram.jpg uberon owl:Class A muscular arch-shaped structure that is composed of the musculus uvuli and parts of tensor veli palatini, levator veli palatini, palatoglossus and palatopharyngeus and attaches to the hard palate and modulates the connections between the oral cavity and pharynx soft tissue arch .[FEED] velar HP:0100181 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the middle bone of the 4th toe UMLS:C4022240 doelkens 2010-06-24T04:54:13Z human_phenotype owl:Class CL:0000119 biolink:NamedThing cerebellar Golgi cell Large intrinsic neuron located in the granule layer of the cerebellar cortex that extends its dendrites into the molecular layer where they receive contact from parallel fibers. The axon of the Golgi cell ramifies densely in the granule layer and enters into a complex arrangement with mossy fiber terminals and granule cell dendrites to form the cerebellar glomerulus. Llinas, Walton and Lang. In The Synaptic Organization of the Brain. 5th ed. 2004. tmpxe7fu0cj_hp_relaxed.owl cerebellar Golgi neuron|Golgi cell|Golgi neuron|cerebellum Golgi cell cell owl:Class HP:0040236 biolink:NamedThing Hyperfibrinolysis Increased degradation of fibrin, associated with clot instability and bleeding tmpxe7fu0cj_hp_relaxed.owl UMLS:C3805089 This term has been requested and created by members of the BRIDGE consortium owl:Class HP:0033145 biolink:NamedThing Increased circulating ceruloplasmin concentration Elevated concentration of ceruloplasmin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-09-15 11:16:39+00:00 peter owl:Class HP:0031622 biolink:NamedThing Brown anomaly An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result. tmpxe7fu0cj_hp_relaxed.owl Brown syndrome 2017-12-16 13:37:10+00:00 peter owl:Class CHEBI:62981 biolink:NamedThing 4-hydroxy-L-prolinate The L-alpha-amino acid anion that is the conjugate base of 4-hydroxy-L-proline, formed by proton loss from the carboxy group. It is the major microspecies present at pH > 10.6. tmpxe7fu0cj_hp_relaxed.owl (2S)-4-hydroxypyrrolidine-2-carboxylate|4-hydroxy-L-proline anion -1 C5H8NO3 InChI=1S/C5H9NO3/c7-3-1-4(5(8)9)6-2-3/h3-4,6-7H,1-2H2,(H,8,9)/p-1/t3?,4-/m0/s1 PMMYEEVYMWASQN-BKLSDQPFSA-M 130.12190 130.05097 OC1CN[C@@H](C1)C([O-])=O Reaxys:4742919 chebi_ontology owl:Class CHEBI:33700 biolink:NamedThing proteinogenic amino-acid residue tmpxe7fu0cj_hp_relaxed.owl common amino acid residues|standard amino-acid residues|canonical amino-acid residues|proteinogenic amino-acid residues|standard amino acid residues|canonical amino-acid residue chebi_ontology owl:Class HP:0031510 biolink:NamedThing Linear earlobe crease A transverse linear fissure (crease) in the lobule of the ear. tmpxe7fu0cj_hp_relaxed.owl 2017-09-21 03:01:32+00:00 This feature may be observed in Beckwith Wiedemann syndrome. peter owl:Class NCBITaxon:40151 biolink:NamedThing Monodon monoceros tmpxe7fu0cj_hp_relaxed.owl owl:Class NCBITaxon:40150 biolink:NamedThing Monodon tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0410337 biolink:NamedThing Parasite allergy Hypersensitivity in form of an adverse immune reaction against parasites. tmpxe7fu0cj_hp_relaxed.owl Allergy to parasites|IgE-mediated parasite allergy|Parasite allergy|Immunoglobulin E-mediated parasite allergy owl:Class UBERON:4200230 biolink:NamedThing surface of bone An anatomical surface that is part of a bone. tmpxe7fu0cj_hp_relaxed.owl bone surface uberon owl:Class HP:0007199 biolink:NamedThing Progressive spastic paraparesis tmpxe7fu0cj_hp_relaxed.owl UMLS:C0747251 human_phenotype owl:Class HP:0030455 biolink:NamedThing Abnormality of pattern visual evoked potentials tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072946 owl:Class UBERON:0010549 biolink:NamedThing pedal digit 3 metatarsal pre-cartilage condensation A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 3 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl foot digit 3 metatarsal pre-cartilage condensation|hind limb digit 3 metatarsal pre-cartilage condensation|toe 3 metatarsal pre-cartilage condensation|pedal digit III metatarsal pre-cartilage condensation EHDAA2:0002050|EMAPA:17729 uberon owl:Class HP:0007655 biolink:NamedThing Eversion of lateral third of lower eyelids tmpxe7fu0cj_hp_relaxed.owl UMLS:C1835801 human_phenotype owl:Class HP:0000656 biolink:NamedThing Ectropion An outward turning (eversion) or rotation of the eyelid margin. tmpxe7fu0cj_hp_relaxed.owl Eyelid turned out|Everted eyelid|Eyelid folded out SNOMEDCT_US:62909004|UMLS:C0013592|MSH:D004483|SNOMEDCT_US:127559009 Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid. human_phenotype owl:Class HP:0012444 biolink:NamedThing Brain atrophy Partial or complete wasting (loss) of brain tissue that was once present. tmpxe7fu0cj_hp_relaxed.owl Brain degeneration|Brain wasting SNOMEDCT_US:52522001|SNOMEDCT_US:418143002|UMLS:C0154671|SNOMEDCT_US:278849000|UMLS:C0235946 peter 2013-11-23T02:46:15Z owl:Class HP:0031248 biolink:NamedThing Palmar pruritus Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand. tmpxe7fu0cj_hp_relaxed.owl Itchy palm 2017-08-12 13:33:52+00:00 peter owl:Class HP:0012717 biolink:NamedThing Severe conductive hearing impairment A severe form of conductive hearing impairment. tmpxe7fu0cj_hp_relaxed.owl Conductive hearing loss, severe UMLS:C4021074 Conductive hearing impairment with 21-40 dB deficit. peter 2014-03-23T12:40:51Z human_phenotype owl:Class HP:0033395 biolink:NamedThing Antilactoferrin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin. tmpxe7fu0cj_hp_relaxed.owl 2021-01-06 12:57:51+00:00 peter owl:Class HP:0040283 biolink:NamedThing Occasional Present in 5% to 29% of the cases. tmpxe7fu0cj_hp_relaxed.owl Occasional (29-5%) ORPHA:453313 ORCID:0000-0002-5316-1399 owl:Class PATO:0000381 biolink:NamedThing decreased frequency A frequency which is relatively low. tmpxe7fu0cj_hp_relaxed.owl low frequency|infrequent quality owl:Class GO:0071746 biolink:NamedThing IgA immunoglobulin complex, circulating A protein complex composed of two identical immunoglobulin heavy chains of an IgA isotype and two identical immunoglobulin light chains, held together by disulfide bonds, sometimes complexed with J chain or J chain and secretory component, and present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpxe7fu0cj_hp_relaxed.owl IgA1 antibody|IgA antibody|IgA2 antibody Note that an IgA immunoglobulin complex has the function of antigen binding if a suitable antigen is available. mah 2010-03-24T01:44:53Z cellular_component owl:Class HP:0000637 biolink:NamedThing Long palpebral fissure Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. tmpxe7fu0cj_hp_relaxed.owl Long opening between the eyelids|Wide opening between the eyelids|Long palpebral fissures|Broad palpebral fissure|Wide palpebral fissures|Broad opening between the eyelids|Wide palpebral fissure UMLS:C1849340 HP:0007904 human_phenotype owl:Class HP:0004592 biolink:NamedThing Thoracic platyspondyly A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1862428 human_phenotype owl:Class HP:0009434 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 3rd finger Uneven (irregular) increase in bone density of the middle phalanx of the third finger. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the middle bone of the middle finger UMLS:C4024364 doelkens 2009-01-14T03:41:31Z human_phenotype owl:Class UBERON:0002033 biolink:NamedThing arrector muscle of hair A tiny smooth muscle that connects the hair follicle with the dermis. tmpxe7fu0cj_hp_relaxed.owl erectores pilorum|arectores pilorum|pilomotor muscle|arrector pilli muscle|erector pili|arrector pili|arrector pilli|arrector pili smooth muscle|arrector pilorum muscle of hair|arrector pilorum|arrector pili muscle MA:0000778|FMA:67821|BTO:0005132|EMAPA:26775 uberon owl:Class When contracted the arrector pili causes the raising of the hair GO:0032400 biolink:NamedThing melanosome localization Any process in which a melanosome is transported to, and/or maintained in, a specific location within the cell. tmpxe7fu0cj_hp_relaxed.owl melanosome localisation biological_process owl:Class HP:0002073 biolink:NamedThing Progressive cerebellar ataxia tmpxe7fu0cj_hp_relaxed.owl Cerebellar ataxia, progressive|Progressive ataxia SNOMEDCT_US:230233000|UMLS:C0393525 HP:0001329|HP:0002496|HP:0007331 human_phenotype owl:Class UBERON:0005945 biolink:NamedThing neurocranial trabecula tmpxe7fu0cj_hp_relaxed.owl trabecular cartilage|trabecula|neurocranial trabeculae TAO:0001321|EFO:0003677|ZFA:0001321 uberon owl:Class NBO:0000163 biolink:NamedThing REM frequency tmpxe7fu0cj_hp_relaxed.owl 2011-03-31T03:15:49Z George Gkoutos behavior_ontology owl:Class GO:0120023 biolink:NamedThing somatostatin binding Binding to somatostatin, a polypeptide hormone involved in regulating pancreatic alpha and pancreatic beta cells and controlling growth hormone secretion as well as many other functions. Somatostatin is produced by several cell types including pancreatic delta cells. There are several different mature forms of somatostatin. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/13143 krc 2017-03-17T14:54:21Z molecular_function owl:Class GO:0017046 biolink:NamedThing peptide hormone binding Binding to a peptide with hormonal activity in animals. tmpxe7fu0cj_hp_relaxed.owl polypeptide hormone binding molecular_function owl:Class HP:0002091 biolink:NamedThing Restrictive ventilatory defect A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. tmpxe7fu0cj_hp_relaxed.owl Restrictive respiratory syndrome|Restrictive deficit on pulmonary function tests|Restrictive respiratory insufficiency|Stiff lung or chest wall causing decreased lung volume|Restrictive deficit on pulmonary function testing|Restrictive lung disease|Spirometric restriction|Restrictive respiratory disease UMLS:C0085581|UMLS:C3277226|SNOMEDCT_US:36485005 The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity. HP:0002111 owl:Class HP:0012737 biolink:NamedThing Small intestinal polyp A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1302645|SNOMEDCT_US:399723004 peter 2014-03-23T03:50:25Z human_phenotype owl:Class HP:0033968 biolink:NamedThing Interlobular vein intima/media granulomatous venulitis A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. tmpxe7fu0cj_hp_relaxed.owl Granulomatous venulitis within interlobular vein intima/media 2021-06-24 12:52:16+00:00 peter owl:Class HP:0033967 biolink:NamedThing Interlobular vein intima/media venulitis Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural. tmpxe7fu0cj_hp_relaxed.owl Venulitis within interlobular vein intima/media 2021-06-24 12:51:02+00:00 peter owl:Class HP:0011318 biolink:NamedThing Bicoronal synostosis Synostosis affecting the right and the left coronal suture. tmpxe7fu0cj_hp_relaxed.owl Bilateral coronal suture craniosynostosis|Bilateral coronal suture synostosis|Bilateral coronal craniosynostosis UMLS:C4021164 peter 2012-02-25T01:11:41Z human_phenotype owl:Class HP:0004440 biolink:NamedThing Coronal craniosynostosis Premature closure of the coronal suture of skull. tmpxe7fu0cj_hp_relaxed.owl Craniosynostosis of coronal suture|Coronal suture synostosis|Coronal suture craniosynostosis UMLS:C1856266 peter 2008-03-18T09:59:00Z HP:0002739|HP:0004441|HP:0002675|HP:0002685 owl:Class HP:0030210 biolink:NamedThing Muscle specific kinase antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab). tmpxe7fu0cj_hp_relaxed.owl Anti-MUSK antibodies UMLS:C4021044 owl:Class HP:0006732 biolink:NamedThing Papillary renal cell carcinoma type 2 A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1336840 Papillary renal cell carcinoma type 2 is a common feature of hereditary leiomyomatosis and renal cell cancer; HLRCC (OMIM 150800). human_phenotype owl:Class HP:0006748 biolink:NamedThing Adrenal pheochromocytoma Pheochromocytoma originating from the adrenal medulla. tmpxe7fu0cj_hp_relaxed.owl Pheochromocytoma, adrenal|Pheochromocytomas, adrenal SNOMEDCT_US:399343007|NCIT:C3326|SNOMEDCT_US:302835009|MSH:D010673|UMLS:C0031511|SNOMEDCT_US:85583005 HP:0006752 human_phenotype owl:Class HP:0012463 biolink:NamedThing Elevated transferrin saturation An above normal level of saturation of serum transferrin with iron. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022892 Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation. peter 2013-11-24T12:46:56Z human_phenotype owl:Class CHEBI:21766 biolink:NamedThing N-methylglycines An N-alkylglycine that is sarcosine and derivatives of sarcosine arising by replacement of the hydrogen attached to the nitrogen by a hydrocarbyl group. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0025407 biolink:NamedThing Rectourethral fistula An abnormal connection (fistula) between the rectum and the urethra. tmpxe7fu0cj_hp_relaxed.owl Urethrorectal fistula 2017-04-23 10:24:54+00:00 HPO:probinson owl:Class HP:0006895 biolink:NamedThing Lower limb hypertonia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1845245 human_phenotype owl:Class HP:0002509 biolink:NamedThing Limb hypertonia tmpxe7fu0cj_hp_relaxed.owl Increased muscle tone of arm or leg UMLS:C1838391 human_phenotype owl:Class HP:0010527 biolink:NamedThing Astereognosia Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit. tmpxe7fu0cj_hp_relaxed.owl Somatosensory agnosia|Astereognosis SNOMEDCT_US:25094008|UMLS:C0234505|MSH:D000377 peter 2009-09-20T11:41:58Z human_phenotype owl:Class GO:1900451 biolink:NamedThing positive regulation of glutamate receptor signaling pathway Any process that activates or increases the frequency, rate or extent of glutamate receptor signaling pathway. tmpxe7fu0cj_hp_relaxed.owl upregulation of glutamate signalling pathway|upregulation of glutamate signaling pathway|upregulation of glutamate receptor signaling pathway|up regulation of glutamate signaling pathway|activation of glutamate signalling pathway|positive regulation of glutamate signaling pathway|up regulation of glutamate signalling pathway|positive regulation of glutamate signalling pathway|up regulation of glutamate receptor signaling pathway|up-regulation of glutamate receptor signaling pathway|activation of glutamate signaling pathway|up-regulation of glutamate signaling pathway|activation of glutamate receptor signaling pathway|up-regulation of glutamate signalling pathway rl 2012-04-27T03:46:03Z biological_process owl:Class HP:0030557 biolink:NamedThing Best corrected visual acuity 0.4 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073030 owl:Class GO:0060414 biolink:NamedThing aorta smooth muscle tissue morphogenesis The process in which the structure of the smooth muscle tissue surrounding the aorta is generated and organized. An aorta is an artery that carries blood from the heart to other parts of the body. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0011139 biolink:NamedThing Gastric duplication Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach. tmpxe7fu0cj_hp_relaxed.owl Gastric duplication cyst UMLS:C4021201 Gastric duplication usually presents as gastric outlet obstruction. They are usually spherical in form, do not communicate with the stomach, and are generally localized at the greater curvature. In some cases they may exhibit adhesion to the pancreas and even communicate with aberrant pancreatic ducts. Gastric duplication is more frequent in females. It is generally either diagnosed in infancy because of symptoms of gastric outlet obstruction or is an incidental finding in adulthood. peter 2011-06-25T08:57:09Z human_phenotype owl:Class HP:0033134 biolink:NamedThing Abdominal adhesions Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane). tmpxe7fu0cj_hp_relaxed.owl Intra-abdominal adhesion 2020-09-09 13:12:30+00:00 Abdominal adhesions typically form after abdominal surgery but may also occur secondary to inflammatory conditions of the abdomen in the absence of prior abdominal surgery or as a sequela of abdomino-pelvic radiation. Although the majority of patients with intra-abdominal adhesions remain asymptomatic, a clinically significant subset of patients will develop adhesive disease, a symptomatic state ranging from mild and/or vague to highly distressing and even life-threatening symptoms. peter owl:Class HP:0002812 biolink:NamedThing Coxa vara Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:74820003|UMLS:C0239138|MSH:D060905 The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired. human_phenotype owl:Class UBERON:8410048 biolink:NamedThing venule of colon A venule located in the colon. tmpxe7fu0cj_hp_relaxed.owl http://orcid.org/0000-0002-2825-0621 uberon owl:Class HP:0032574 biolink:NamedThing Elevated uridine in urine Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond. tmpxe7fu0cj_hp_relaxed.owl Elevated uridine in urine peter owl:Class HP:0011174 biolink:NamedThing Focal hyperkinetic seizure A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements. tmpxe7fu0cj_hp_relaxed.owl Partial hyperkinetic seizure|Hyperkinetic seizures|Localised hyperkinetic seizure|Localized hyperkinetic seizure|Segmental hyperkinetic seizure UMLS:C4023497 The 2017 ILAE classification arbitrarily groups pedaling activity with hyperkinetic seizures, rather than with automatism seizures. However, some automatisms overlap other motor behaviors and where pedaling is slow and coordinated it may be considered an automatism. hecht 2011-11-19T10:13:17Z human_phenotype owl:Class GO:0016409 biolink:NamedThing palmitoyltransferase activity Catalysis of the transfer of a palmitoyl (CH3-[CH2]14-CO-) group to an acceptor molecule. tmpxe7fu0cj_hp_relaxed.owl Reactome:R-HSA-5686304|Reactome:R-HSA-203567 molecular_function owl:Class GO:0016747 biolink:NamedThing acyltransferase activity, transferring groups other than amino-acyl groups Catalysis of the transfer of an acyl group, other than amino-acyl, from one compound (donor) to another (acceptor). tmpxe7fu0cj_hp_relaxed.owl transferase activity, transferring acyl groups other than amino-acyl groups|transferase activity, transferring groups other than amino-acyl groups https://github.com/geneontology/go-ontology/issues/20486 EC:2.3.1.- molecular_function owl:Class UBERON:0015814 biolink:NamedThing outer ear epithelium An epithelium that is part of a external ear. tmpxe7fu0cj_hp_relaxed.owl EMAPA:35956|MA:0003170 uberon owl:Class HP:0010998 biolink:NamedThing Increased susceptibility to spontaneous sister chromatid exchange An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023604 Increased susceptibility to spontaneous sister chromatid exchange is characteristic for Bloom syndrome. peter 2011-02-10T06:14:16Z human_phenotype owl:Class HP:0032521 biolink:NamedThing Self hugging Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting. tmpxe7fu0cj_hp_relaxed.owl Spasmodic upper-body squeeze 2019-05-26 11:19:58+00:00 This is a characteristic behavior in Smith-Magenis syndrome. peter owl:Class HP:0005144 biolink:NamedThing Ventricular septal hypertrophy The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. tmpxe7fu0cj_hp_relaxed.owl Thickened interventricular septum UMLS:C1845019 human_phenotype owl:Class HP:0006291 biolink:NamedThing Marked delay in eruption of permanent teeth tmpxe7fu0cj_hp_relaxed.owl Very late eruption of permanent teeth|Severe delay of eruption of permanent teeth|Severe delay of eruption of adult teeth|Very late eruption of adult teeth UMLS:C1863009 human_phenotype owl:Class HP:0030718 biolink:NamedThing Right atrial enlargement Increase in size of the right atrium. tmpxe7fu0cj_hp_relaxed.owl Enlarged heart right atrium|Dilated right atrium|Right atrial dilatation UMLS:C0748427|Fyler:2859|SNOMEDCT_US:67751000119106|Fyler:1771 This feature can be appreciated on chext radiography, MRI, or CT. owl:Class CHEBI:39024 biolink:NamedThing clathrate compound Inclusion compound in which the guest molecule is in a cage formed by the host molecule or by a lattice of host molecules. tmpxe7fu0cj_hp_relaxed.owl Klathrat|clatratos|Clathratverbindung|Klathratverbindung|clathrate|clathrate compounds|cage compound|Clathrat|compuesto de clatrato|clathrates|clatrato chebi_ontology owl:Class CHEBI:39022 biolink:NamedThing inclusion compound A complex in which one component (the host) forms a cavity or, in the case of a crystal, a crystal lattice containing spaces in the shape of long tunnels or channels in which molecular entities of a second chemical species (the guest) are located. There is no covalent bonding between guest and host, the attraction being generally due to van der Waals forces. tmpxe7fu0cj_hp_relaxed.owl inclusion compounds|inclusion compound|inclusion complex|compuesto de inclusion|compuestos de inclusion|compose d'inclusion chebi_ontology owl:Class HP:0030483 biolink:NamedThing Reduced amplitude of dark-adapted bright flash electroretinogram a-wave An abnormal reduction in the amplitude of the a-wave. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072973 owl:Class GO:2001026 biolink:NamedThing regulation of endothelial cell chemotaxis Any process that modulates the frequency, rate or extent of endothelial cell chemotaxis. tmpxe7fu0cj_hp_relaxed.owl rl 2011-08-22T01:07:26Z biological_process owl:Class HP:0002600 biolink:NamedThing Hyporeflexia of lower limbs Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. tmpxe7fu0cj_hp_relaxed.owl Hyporeflexia in lower limbs|Hyporeflexia, lower limbs|Hyporeflexia of the lower limbs|Hyporeflexia/areflexia in lower limbs UMLS:C1834696 Reflexes are sensorimotor arcs that require some type of sensory (afferent) signal, and some motor response. While the simplest of reflexes involve direct synapse between the sensory fiber and the motor neuron (monosynaptic), many reflexes have several neurons interposed (polysynaptic reflexes). Hyporeflexia can result from a defect anywhere in this chain. HP:0006861 human_phenotype owl:Class HP:0031057 biolink:NamedThing Skin fissure A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis. tmpxe7fu0cj_hp_relaxed.owl Cracked skin 2017-05-27 17:57:13+00:00 peter owl:Class HP:0009287 biolink:NamedThing Curved middle phalanx of the 4th finger Curved appearance of the middle phalanx of the 4th (ring) finger. tmpxe7fu0cj_hp_relaxed.owl Curved middle ring finger bone UMLS:C4024468 doelkens 2009-01-08T03:46:28Z human_phenotype owl:Class UBERON:0015783 biolink:NamedThing smooth muscle layer in fatty layer of subcutaneous tissue A smooth muscle tissue that is part of a hypodermis. tmpxe7fu0cj_hp_relaxed.owl stratum musculosum panniculi adiposi telae subcutaneae|muscle layer in fatty layer of subcutaneous tissue FMA:77862 uberon owl:Class HP:0033263 biolink:NamedThing Absent platelet dense granules Lack of platelet dense granules, a type of platelet organelles. tmpxe7fu0cj_hp_relaxed.owl Absent platelet dense bodies 2020-11-28 15:08:55+00:00 peter owl:Class GO:1900075 biolink:NamedThing positive regulation of neuromuscular synaptic transmission Any process that activates or increases the frequency, rate or extent of neuromuscular synaptic transmission. tmpxe7fu0cj_hp_relaxed.owl up-regulation of neuromuscular synaptic transmission|upregulation of neuromuscular synaptic transmission|activation of neuromuscular synaptic transmission|up regulation of neuromuscular synaptic transmission kmv 2012-01-26T10:14:22Z biological_process owl:Class GO:1905672 biolink:NamedThing negative regulation of lysosome organization Any process that stops, prevents or reduces the frequency, rate or extent of lysosome organization. tmpxe7fu0cj_hp_relaxed.owl inhibition of lysosome organisation|downregulation of lysosome organization|inhibition of lysosome organization and biogenesis|down-regulation of lysosome organisation|down-regulation of lysosome organization|down-regulation of lysosome organization and biogenesis|down regulation of lysosome organisation|down regulation of lysosome organization and biogenesis|negative regulation of lysosome organization and biogenesis|downregulation of lysosome organization and biogenesis|inhibition of lysosome organization|down regulation of lysosome organization|downregulation of lysosome organisation|negative regulation of lysosome organisation sl 2016-11-11T22:01:12Z biological_process owl:Class HP:0009785 biolink:NamedThing Triceps aplasia Absence of the triceps muscle. tmpxe7fu0cj_hp_relaxed.owl Absent triceps UMLS:C3810484 peter 2009-02-03T05:15:21Z human_phenotype owl:Class HP:0007262 biolink:NamedThing Symmetric peripheral demyelination A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024914 human_phenotype owl:Class UBERON:0035165 biolink:NamedThing posterior surface of prostate The flattened aspect of the prostate with a slight furrow facing the rectum and anus. tmpxe7fu0cj_hp_relaxed.owl facies posterior (prostatae)|facies posterior prostatae|posterior surface of prostate gland NCIT:C13095|FMA:19592 uberon owl:Class GO:0045656 biolink:NamedThing negative regulation of monocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of monocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of monocyte differentiation|down regulation of monocyte differentiation|downregulation of monocyte differentiation|inhibition of monocyte differentiation biological_process owl:Class HP:0500037 biolink:NamedThing Nasolacrimal sac epithelial papillary carcinoma The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac. tmpxe7fu0cj_hp_relaxed.owl 2018-01-31 17:14:14+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:3000066 biolink:NamedThing Abnormal lacrimal sac morphology An abnormality of a lacrimal sac. tmpxe7fu0cj_hp_relaxed.owl Abnormality of lacrimal sac UMLS:C4073273 vasilevs 2015-08-07T03:38:31Z human_phenotype owl:Class HP:0032052 biolink:NamedThing Focal cortical dysplasia type IIa A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 11:11:20+00:00 There are no balloon cells present (to be confirmed by immunohistochemistry). Discrimination of individual cortical layers is almost impossible (with the exception of Layer 1). Other cortical layer abnormalities are frequently encountered and should not be separately classified, including abnormal isocortical layer organization adjacent to the main lesion, as well as heterotopic neurons in Layer 1 or white matter. peter owl:Class HP:0033542 biolink:NamedThing Bronchial wall thickening Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density. tmpxe7fu0cj_hp_relaxed.owl Peribronchial cuffing|Peribronchial thickening 2021-01-21 12:32:16+00:00 peter owl:Class PR:000050182 biolink:NamedThing Ig lambda light chain protein An immunoglobulin light chain protein that is produced from the immunoglobulin lambda locus. tmpxe7fu0cj_hp_relaxed.owl IgLambda Category=gene. Note: In human, the lambda light chain locus is described by https://www.genenames.org/cgi-bin/genefamilies/set/353. In mouse, the lambda locus is described by MGI:96526. protein owl:Class HP:0025646 biolink:NamedThing Bilateral polymicrogyria Polymicrogyria that affects all or some of both cerebral hemispheres. tmpxe7fu0cj_hp_relaxed.owl Bilateral polymicrogyria is not always generalized or perisylvian. HPO:probinson owl:Class UBERON:0006293 biolink:NamedThing spleen primordium A dense syncitial-like mesenchymal thickening in the dorsal mesogastrium[ISBN]. the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing spleen[MP]. tmpxe7fu0cj_hp_relaxed.owl spleen mesenchyme|left spleen primordium|splenic mesenchyme|splenic primordium EMAPA:18535|EHDAA2:0001904|EHDAA:3003|XAO:0000326 UBERON:0009750 uberon owl:Class check difference between splenic and spleen in EMAPA; note that in EHDAA2 the class 'spleen' refers to the mesenchyme CHEBI:71671 biolink:NamedThing aldonate(1-) A carbohydrate acid anion obtained by deprotonation of any aldonic acid. Major structure at pH 7.3 of aldonate compounds. tmpxe7fu0cj_hp_relaxed.owl aldonates -1 (CH2O)n.C2H3O3 chebi_ontology owl:Class UBERON:0002916 biolink:NamedThing central sulcus The central sulcus is a fold in the cerebral cortex of brains in vertebrates. Also called the central fissure, it was originally called the fissure of Rolando or the Rolandic fissure, after Luigi Rolando. The central sulcus is a prominent landmark of the brain, separating the parietal lobe from the frontal lobe and the primary motor cortex from the primary somatosensory cortex. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl central sulcus of Rolando|sulcus centralis cerebri|sulcus of Rolando|sulcus centralis|sulcus centralis (rolandi)|rolandic fissure|central cerebral sulcus|central fissure|fissure of Rolando|CS FMA:83752|OpenCyc:Mx4rvjMKxpwpEbGdrcN5Y29ycA|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=48|DHBA:10614|UMLS:C1281071|UMLS:C0228188|BAMS:cs|HBA:9403|BIRNLEX:4035|BM:Tel-Cx-CS|NCIT:C32280 Central:sulcus.png|http://upload.wikimedia.org/wikipedia/commons/8/8e/Gray726_central_sulcus.svg uberon owl:Class HP:0031533 biolink:NamedThing Multifocal sub-RPE deposits Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 00:51:20+00:00 peter owl:Class HP:0010031 biolink:NamedThing Patchy sclerosis of the 1st metacarpal Uneven increase in bone density within the 1st metacarpal. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in 1st long bone of hand UMLS:C4024093 doelkens 2009-05-27T04:24:30Z human_phenotype owl:Class HP:0100914 biolink:NamedThing Sclerosis of the 1st metacarpal tmpxe7fu0cj_hp_relaxed.owl Increased bone density in 1st long bone of hand UMLS:C4021928 human_phenotype owl:Class HP:0002607 biolink:NamedThing Bowel incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained. tmpxe7fu0cj_hp_relaxed.owl Anal incontinence|Loss of bowel control|Faecal incontinence|Fecal incontinence UMLS:C0015732|SNOMEDCT_US:72042002|MSH:D005242 HP:0007147 human_phenotype owl:Class HP:0031064 biolink:NamedThing Impaired continence Partial or total incontinence of bowel or bladder. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 22:29:13+00:00 peter owl:Class HP:0033818 biolink:NamedThing Reticular Applies to an abnormality whose distribution and appearance resembles a net or network-like structure. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:18:27+00:00 peter owl:Class HP:0011599 biolink:NamedThing Mesocardia Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane. tmpxe7fu0cj_hp_relaxed.owl Fyler:140|SNOMEDCT_US:16567006|Fyler:0140|UMLS:C0265865 peter 2012-04-08T02:41:36Z owl:Class HP:0045017 biolink:NamedThing Congenital malformation of the left heart Defect or defects of the morphogenesis of the left heart identifiable at birth. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022397 HPO:skoehler owl:Class HP:0025481 biolink:NamedThing Cervical hemivertebrae Absence of one half of the vertebral body in the cervical spine. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 13:58:48+00:00 HPO:probinson owl:Class UBERON:0005317 biolink:NamedThing pulmonary artery endothelium An pulmonary artery endothelium is an epithelium that lines the pulmonary artery[GO]. tmpxe7fu0cj_hp_relaxed.owl pulmonary artery endothelial tube BTO:0000137 uberon owl:Class UBERON:0019261 biolink:NamedThing white matter of forebrain A white matter that is part of the forebrain. tmpxe7fu0cj_hp_relaxed.owl DHBA:10557|FMA:268634 uberon owl:Class HP:0011910 biolink:NamedThing Shortening of all phalanges of fingers Abnormal reduction in length affecting all phalanges. tmpxe7fu0cj_hp_relaxed.owl Shortening of all finger bones UMLS:C4023133 peter 2012-06-03T10:50:44Z human_phenotype owl:Class HP:0004341 biolink:NamedThing Abnormality of vitamin B12 metabolism tmpxe7fu0cj_hp_relaxed.owl Abnormality of the vitamin B12 metabolism UMLS:C4021658 peter 2008-03-08T08:09:00Z human_phenotype owl:Class HP:0100425 biolink:NamedThing Broad middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Broad middle 3rd toe bone UMLS:C4022102 human_phenotype owl:Class HP:0032268 biolink:NamedThing Dural tail sign This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 20:24:27+00:00 This sign has been traditionally considered as highly specific for meningioma. However, it is seen only in 60% of meningiomas and has also been reported in nonmeningiomatous lesions such as chloromas, primary CNS lymphomas, sarcoidosis, schwannomas, metastases, and syphilitic gummata. peter owl:Class UBERON:0009132 biolink:NamedThing peroneus One of a group of three muscles fibularis (peronæus) longus, brevis, and tertius originating on the fibula and inserting on the metatarsals. tmpxe7fu0cj_hp_relaxed.owl peronæus muscle|peroneus muscle|fibularis|fibularis muscle|peroneal muscles|peroneal muscle|peroneal muscle group EHDAA2:0001450|EHDAA:8297|EMAPA:36251 uberon owl:Class HP:0010515 biolink:NamedThing Aplasia/Hypoplasia of the thymus Absence or underdevelopment of the thymus. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped thymus|Absent/small thymus|Thymic hypoplasia or aplasia UMLS:C3278004|UMLS:C4023796 peter 2009-09-19T04:21:24Z human_phenotype owl:Class UBERON:0036243 biolink:NamedThing vaginal fluid Fluid that lines the vaginal walls that consists of multiple secretions that collect in the vagina from different glands. tmpxe7fu0cj_hp_relaxed.owl vaginal secretion|vaginal discharge uberon owl:Class GO:0003208 biolink:NamedThing cardiac ventricle morphogenesis The process in which the cardiac ventricle is generated and organized. A cardiac ventricle receives blood from a cardiac atrium and pumps it out of the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T09:38:44Z biological_process owl:Class HP:0430015 biolink:NamedThing Abnormal morphology of musculature of pharynx An abnormality of any of the muscles of the pharynx. tmpxe7fu0cj_hp_relaxed.owl Abnormality of pharynx musculature|Abnormality of musculature of pharynx|Abnormality of pharyngeal musculature|Abnormality of muscles of the pharynx UMLS:C4073197 owl:Class HP:0003328 biolink:NamedThing Abnormal hair laboratory examination tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025632 human_phenotype owl:Class CL:0000103 biolink:NamedThing bipolar neuron A type of interneuron that has two neurites, usually an axon and a dendrite, extending from opposite poles of an ovoid cell body. tmpxe7fu0cj_hp_relaxed.owl FMA:67282 cell owl:Class CL:0000099 biolink:NamedThing interneuron Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions. tmpxe7fu0cj_hp_relaxed.owl FBbt:00005125|WBbt:0005113|FMA:67313|BTO:0003811 cell owl:Class HP:0003928 biolink:NamedThing Cortical thickening of humeral diaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025500 human_phenotype owl:Class HP:0004242 biolink:NamedThing Broad carpal bones tmpxe7fu0cj_hp_relaxed.owl Wide carpal bones|Wide wrist bones UMLS:C3554618 human_phenotype owl:Class HP:0004980 biolink:NamedThing Metaphyseal rarefaction Reduction in density of metaphyseal bony tissue. tmpxe7fu0cj_hp_relaxed.owl Rarefaction of the metaphyses UMLS:C1832146 human_phenotype owl:Class NCBITaxon:4932 biolink:NamedThing Saccharomyces cerevisiae tmpxe7fu0cj_hp_relaxed.owl Mycoderma cerevisiae|Saccharomyces capensis|Saccharomyces uvarum var. melibiosus|S. cerevisiae|Candida robusta|baker's yeast|Saccharomyces italicus|brewer's yeast|Saccharomyces oviformis GC_ID:1 ncbi_taxonomy owl:Class HP:0011748 biolink:NamedThing Adrenocorticotropic hormone deficiency A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. tmpxe7fu0cj_hp_relaxed.owl Corticotropin deficiency|ACTH deficiency SNOMEDCT_US:237692001|UMLS:C0342388|MSH:C535668 peter 2012-04-22T11:27:04Z human_phenotype owl:Class HP:0007646 biolink:NamedThing Absent lower eyelashes Lack of eyelashes on the lower lid. tmpxe7fu0cj_hp_relaxed.owl Absent lower eyelashes|Atrichia of lower eyelashes|Failure of development of lower eyelashes|Aplasia of lower eyelashes|Agenesis of lower eyelashes UMLS:C4024824 human_phenotype owl:Class HP:0010591 biolink:NamedThing Abnormality of the proximal tibial epiphysis Any abnormality of the proximal epiphysis of the tibia. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of innermost shinbone|Abnormality of the end part of innermost shankbone UMLS:C4023782 sandra1 2009-10-22T03:03:04Z human_phenotype owl:Class CL:0000806 biolink:NamedThing DN2 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive. tmpxe7fu0cj_hp_relaxed.owl DN2 alpha-beta immature T lymphocyte|DN2 alpha-beta immature T-cell|TN2 cell|preT.DN2.Th|double negative 2|TN2 thymocyte|DN2 immature T cell|DN2 cell|DN2 alpha-beta immature T-lymphocyte Note that this type of thymocyte is at the earliest stage of T cell receptor rearrangement of the beta, gamma, and delta T cell receptor chains. Also, there is growing evidence that molecular markers characterizing double negative thymocytes are different across species, especially in mouse versus human thymus. If in doubt, please consider using CL:0002489 'double negative thymocyte'. cell owl:Class CL:0002489 biolink:NamedThing double negative thymocyte A thymocyte that lacks expression of CD4 and CD8. tmpxe7fu0cj_hp_relaxed.owl double negative T cell|CD4-CD8- T cell These are precursors to mature T cells; normally, they do not circulate, but are found in the thymus and they have not undergone rearrangement of the alpha and beta T cell receptor genes. tmeehan 2010-12-06T03:03:38Z cell owl:Class HP:0006161 biolink:NamedThing Short metacarpals with rounded proximal ends tmpxe7fu0cj_hp_relaxed.owl Short long bone of hand with rounded innermost ends UMLS:C1856471 human_phenotype owl:Class HP:0025224 biolink:NamedThing Triggered by sodium ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium. tmpxe7fu0cj_hp_relaxed.owl Triggered by Na ingestion|Sodium ingestion triggered symptoms|Triggered by sodium intake|Sodium intake triggered attacks|Triggered by salt ingestion|Triggered by Na+ ingestion 2016-12-10 14:08:50+00:00 HPO:probinson owl:Class HP:0012621 biolink:NamedThing Persistent cloaca Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel. tmpxe7fu0cj_hp_relaxed.owl Cloacogenic bladder UMLS:C0266225|SNOMEDCT_US:74829002 peter 2014-01-17T12:28:30Z human_phenotype owl:Class CHEBI:50315 biolink:NamedThing chloronium tmpxe7fu0cj_hp_relaxed.owl H2Cl(+)|chloronium|chloranium|[ClH2](+) +1 ClH2 InChI=1S/ClH2/h1H2/q+1 IGJWHVUMEJASKV-UHFFFAOYSA-N 37.46858 36.98395 [H][Cl+][H] Gmelin:331 chebi_ontology owl:Class CHEBI:50313 biolink:NamedThing onium cation Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families. tmpxe7fu0cj_hp_relaxed.owl onium cations|onium ions|onium ion chebi_ontology owl:Class HP:0000051 biolink:NamedThing Perineal hypospadias Hypospadias with location of the urethral meatus in the perineal region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0452148|SNOMEDCT_US:204890004 human_phenotype owl:Class UBERON:0009191 biolink:NamedThing sphenoid bone pre-cartilage condensation A sphenoid endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18015|EHDAA2:0003446 uberon owl:Class HP:0011149 biolink:NamedThing Absence seizure with eyelid myoclonia An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. tmpxe7fu0cj_hp_relaxed.owl Absence seizures with eyelid myoclonia UMLS:C4023513 This type of seizure was classified as a type of generalized non-motor seizure by the ILAE in 2017 because the absence predominates over the eyelid myoclonia. However, eyelid myoclonia can occur as a generalized-onset seizure without any absence, in which they may be better considered a motor seizure: see Eyelid myoclonia seizure. peter 2011-10-18T02:03:21Z human_phenotype owl:Class UBERON:0035551 biolink:NamedThing deep vasculature The part of the circulatory system that lies deep beneath the subcutaneous tissue layers away from the surface of the skin. tmpxe7fu0cj_hp_relaxed.owl deep part of circulatory system uberon owl:Class GO:0014819 biolink:NamedThing regulation of skeletal muscle contraction Any process that modulates the frequency, rate or extent of skeletal muscle contraction. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0004244 biolink:NamedThing Accessory scaphoid tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025396 human_phenotype owl:Class UBERON:0005704 biolink:NamedThing secondary palatal shelf mesenchyme Mesenchyme that is part of a developing secondary palatal shelf. tmpxe7fu0cj_hp_relaxed.owl palatal shelf mesenchyme EHDAA:9287|EMAPA:17364|EHDAA2:0001366|VHOG:0001063 uberon owl:Class NBO:0000617 biolink:NamedThing laughing behavior tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T04:51:05Z George Gkoutos behavior_ontology owl:Class UBERON:0002988 biolink:NamedThing first dorsal interosseous of manus tmpxe7fu0cj_hp_relaxed.owl first dorsal interosseous of hand|abductor indicis|first dorsal interosseous muscle of hand FMA:37424 uberon owl:Class HP:0010619 biolink:NamedThing Fibroadenoma of the breast A benign biphasic tumor of the breast with epithelial and stromal components. tmpxe7fu0cj_hp_relaxed.owl Breast fibroadenoma|Fibroadenosis of breast|Fibroadenosis - breast|Breast fibroadenomas|Breast fibroadenosis NCIT:C3744|SNOMEDCT_US:254845004|UMLS:C0178421 A connective tissue tumor of the breast which is usually benign and painless. Fibromas of the breast are more common in young woman. sandra1 2009-10-28T06:13:11Z owl:Class GO:1902033 biolink:NamedThing regulation of hematopoietic stem cell proliferation Any process that modulates the frequency, rate or extent of hematopoietic stem cell proliferation. tmpxe7fu0cj_hp_relaxed.owl regulation of hemopoietic stem cell proliferation ss 2013-04-02T05:13:19Z biological_process owl:Class HP:0003542 biolink:NamedThing Increased serum pyruvate An increased concentration of pyruvate in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased serum pyruvic acid UMLS:C1849488 An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle. human_phenotype owl:Class HP:0025711 biolink:NamedThing Convergence-retraction nystagmus Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze. tmpxe7fu0cj_hp_relaxed.owl Convergence retraction nystagmus peterrobinson owl:Class CHEBI:24862 biolink:NamedThing iodoamino acid An amino acid containing at least one iodo substituent. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class GO:1903975 biolink:NamedThing regulation of glial cell migration Any process that modulates the frequency, rate or extent of glial cell migration. tmpxe7fu0cj_hp_relaxed.owl regulation of glia cell migration nc 2015-03-02T15:13:31Z biological_process owl:Class HP:0003057 biolink:NamedThing Tetraamelia Amelia of all four limbs. tmpxe7fu0cj_hp_relaxed.owl Tetra-amelia SNOMEDCT_US:702313004|MSH:C536498|UMLS:C2931216 human_phenotype owl:Class GO:0030853 biolink:NamedThing negative regulation of granulocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of granulocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl down-regulation of granulocyte differentiation|down regulation of granulocyte differentiation|downregulation of granulocyte differentiation|inhibition of granulocyte differentiation biological_process owl:Class HP:0002925 biolink:NamedThing Elevated circulating thyroid-stimulating hormone concentration Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated thyroid stimulating hormone|Elevated thyroid stimulating hormone levels|Increased thyrotropin level|Thyroid-stimulating hormone excess|TSH excess|High TSH|Increased thyroid-stimulating hormone level|Increased serum thyroid-stimulating hormone|Increased thyroid-stimulating hormone SNOMEDCT_US:309080005|UMLS:C0586553 owl:Class HP:5000001 biolink:NamedThing Anti-AMPAR antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR). tmpxe7fu0cj_hp_relaxed.owl Anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody ORCID:0000-0002-3387-1836 owl:Class HP:0007747 biolink:NamedThing Monocular horizontal nystagmus tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024807 human_phenotype owl:Class CHEBI:33263 biolink:NamedThing diatomic oxygen tmpxe7fu0cj_hp_relaxed.owl 0 O2 31.999 31.98983 chebi_ontology owl:Class HP:0040016 biolink:NamedThing Prominent coccyx tmpxe7fu0cj_hp_relaxed.owl Prominent tailbone UMLS:C4022490 HPO:skoehler owl:Class HP:0009854 biolink:NamedThing Curved proximal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Curved innermost finger bones of the hand UMLS:C4024179 doelkens 2009-03-11T12:16:33Z HP:0009864 human_phenotype owl:Class HP:0025061 biolink:NamedThing Unifocal splenic abscess Single (solitary) abscess in the spleen. tmpxe7fu0cj_hp_relaxed.owl Unilocular splenic abscess|Solitary splenic abscess 2016-09-26 09:21:20+00:00 HPO:probinson owl:Class HP:0100701 biolink:NamedThing Abnormal pia mater An abnormality of the pia mater. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the pia mater UMLS:C4021994 doelkens 2011-03-31T12:44:41Z human_phenotype owl:Class HP:0009520 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 2nd finger A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024313 doelkens 2009-01-16T01:12:17Z human_phenotype owl:Class HP:0002717 biolink:NamedThing Adrenal overactivity tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025685 Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex. peter 2008-02-25T10:41:00Z human_phenotype owl:Class UBERON:0018570 biolink:NamedThing lower lateral secondary incisor tooth A lower jaw incisor that is in_the_lateral_side_of a dentition. tmpxe7fu0cj_hp_relaxed.owl mandibular lateral permanent incisor|mandibular lateral secondary incisor tooth|lower lateral permanent incisor tooth FMA:55725 uberon owl:Class HP:0001985 biolink:NamedThing Hypoketotic hypoglycemia A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. tmpxe7fu0cj_hp_relaxed.owl Hypoglycemia, hypoketotic UMLS:C1856438 Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better. HP:0005969 human_phenotype owl:Class HP:0100191 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the innermost bone of the 4th toe UMLS:C4022230 doelkens 2010-06-24T04:54:59Z human_phenotype owl:Class UBERON:0005710 biolink:NamedThing lower jaw incisor epithelium A dental epithelium that is part of a lower jaw incisor. tmpxe7fu0cj_hp_relaxed.owl EMAPA:17919|EHDAA2:0001022 uberon owl:Class HP:0025327 biolink:NamedThing Decreased renal parenchymal thickness Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. tmpxe7fu0cj_hp_relaxed.owl 2017-02-11 10:48:34+00:00 The thickness of the renal parenchyma decreases with age. The thickness of the renal parenchyma is correlated with renal function. HPO:probinson owl:Class CHEBI:33515 biolink:NamedThing transition element cation tmpxe7fu0cj_hp_relaxed.owl transition metal cation|transition element cations chebi_ontology owl:Class UBERON:0015017 biolink:NamedThing incus endochondral element An incus bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl incus skeletal element|incus element uberon owl:Class GO:0021559 biolink:NamedThing trigeminal nerve development The process whose specific outcome is the progression of the trigeminal nerve over time, from its formation to the mature structure. The trigeminal nerve is composed of three large branches. They are the ophthalmic (V1, sensory), maxillary (V2, sensory) and mandibular (V3, motor and sensory) branches. The sensory ophthalmic branch travels through the superior orbital fissure and passes through the orbit to reach the skin of the forehead and top of the head. The maxillary nerve contains sensory branches that reach the pterygopalatine fossa via the inferior orbital fissure (face, cheek and upper teeth) and pterygopalatine canal (soft and hard palate, nasal cavity and pharynx). The motor part of the mandibular branch is distributed to the muscles of mastication, the mylohyoid muscle and the anterior belly of the digastric. The mandibular nerve also innervates the tensor veli palatini and tensor tympani muscles. The sensory part of the mandibular nerve is composed of branches that carry general sensory information from the mucous membranes of the mouth and cheek, anterior two-thirds of the tongue, lower teeth, skin of the lower jaw, side of the head and scalp and meninges of the anterior and middle cranial fossae. tmpxe7fu0cj_hp_relaxed.owl CN V development|cranial nerve 5 development|cranial nerve V development biological_process owl:Class HP:0100139 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the outermost bone of the 3rd toe UMLS:C4022282 doelkens 2010-06-24T10:23:44Z human_phenotype owl:Class HP:0033421 biolink:NamedThing Pulmonary artery intimal thickening Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 17:29:20+00:00 peter owl:Class HP:0005225 biolink:NamedThing Intestinal edema Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds. tmpxe7fu0cj_hp_relaxed.owl Intestinal oedema UMLS:C1142262 This finding can be observed upon abdominal radiography. The bowel lumen may be slightly dilated. Secondary to the fluid accumulation, there are anatomic and motor alterations in the intestine which are reflected in the roentgenogram. human_phenotype owl:Class PATO:0040019 biolink:NamedThing fibrotic Fibrosis is the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. tmpxe7fu0cj_hp_relaxed.owl 2018-11-12 23:16:17+00:00 quality owl:Class HP:0030327 biolink:NamedThing Abnormal osteoclast count An anomaly in the number of osteoclasts, bone-resorbing cells that develop from macrophages. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022508 owl:Class HP:0030326 biolink:NamedThing Abnormal macrophage count An anomaly in the number of macrophages. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022509 owl:Class HP:0031981 biolink:NamedThing Elevated urine glycolate An increased concentration of glycolate in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-07-08 13:03:26+00:00 Primary hyperoxaluria type 1 is an inborn error of glyoxalate metabolism characterized by excessive production and urinary excretion of oxalate and glycolate. peter owl:Class HP:0008454 biolink:NamedThing Lumbar kyphosis Over curvature of the lumbar region. tmpxe7fu0cj_hp_relaxed.owl Lumbar gibbus deformity|Rounded lower back UMLS:C1844818 HP:0008487 human_phenotype owl:Class HP:0031736 biolink:NamedThing Involutional entropion An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 13:40:49+00:00 peter owl:Class HP:0000621 biolink:NamedThing Entropion An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital. tmpxe7fu0cj_hp_relaxed.owl Inverted eyelid|Eyelid turned in|Eyelid folded in MSH:D004774|UMLS:C0014390|SNOMEDCT_US:33168009 The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon. human_phenotype owl:Class HP:0045037 biolink:NamedThing Abnormality of jaw muscles tmpxe7fu0cj_hp_relaxed.owl Abnormality of jaw muscles UMLS:C4073166 HPO:skoehler owl:Class UBERON:0018117 biolink:NamedThing left renal cortex interstitium A renal cortex interstitium that is part of a left kidney. tmpxe7fu0cj_hp_relaxed.owl cortical interstitial tissue of left kidney uberon owl:Class GO:0046110 biolink:NamedThing xanthine metabolic process The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. tmpxe7fu0cj_hp_relaxed.owl xanthine metabolism biological_process owl:Class HP:0031699 biolink:NamedThing Disseminated cryptosporidium infection Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 22:46:38+00:00 peter owl:Class CL:0000972 biolink:NamedThing class switched memory B cell A class switched memory B cell is a memory B cell that has undergone Ig class switching and therefore is IgM-negative on the cell surface. These cells are CD27-positive and have either IgG, IgE, or IgA on the cell surface. tmpxe7fu0cj_hp_relaxed.owl class switched memory B lymphocyte|class switched memory B-cell|class switched memory B-lymphocyte Per DSD: Class switched memory B cells are also reportedly CD48-positive, CD229-positive, and CD352-positive. cell owl:Class CL:0000787 biolink:NamedThing memory B cell A memory B cell is a mature B cell that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. This cell type has the phenotype CD19-positive, CD20-positive, MHC Class II-positive, and CD138-negative. tmpxe7fu0cj_hp_relaxed.owl memory B-cell|memory B lymphocyte|memory B-lymphocyte Memory B-cells are also reportedly CD5-negative, CD10-negative, CD21-positive, CD22-positive, CD23-negative, CD24-positive, CD25-positive, CD27-positive, CD34-negative, CD38-negative, CD40-positive, CD43-negative, CD44-positive, CD45-positive, CD53-positive, CD80-negative, CD81-negative, CD86-positive, and CD196/CCR6-positive. cell owl:Class UBERON:0003587 biolink:NamedThing limb connective tissue A portion of connective tissue that is part of a limb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl textus connectivus of limb|limb portion of connective tissue|portion of connective tissue of limb|connective tissue of limb|limb textus connectivus MA:0000689|EMAPA:37313 uberon owl:Class HP:0003645 biolink:NamedThing Prolonged partial thromboplastin time Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. tmpxe7fu0cj_hp_relaxed.owl Prolonged PTT|Partial thromboplastin time prolonged|Abnormal partial thromboplastin time|Delayed thromboplastin generation|Prolonged activated partial thromboplastin time SNOMEDCT_US:409675001|UMLS:C0240671 human_phenotype owl:Class HP:0005949 biolink:NamedThing Apneic episodes in infancy Recurrent episodes of apnea occurring during infancy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3807980 human_phenotype owl:Class UBERON:0010550 biolink:NamedThing pedal digit 4 metatarsal pre-cartilage condensation A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 4 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl foot digit 4 metatarsal pre-cartilage condensation|toe 4 metatarsal pre-cartilage condensation|pedal digit IV metatarsal pre-cartilage condensation|hind limb digit 4 metatarsal pre-cartilage condensation EHDAA2:0002055|EMAPA:17731 uberon owl:Class HP:0025048 biolink:NamedThing Reduced brain choline level by MRS An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl Reduced brain choline level by magnetic resonance spectroscopy 2016-09-25 16:49:14+00:00 HPO:probinson owl:Class HP:0025047 biolink:NamedThing Abnormal brain choline level by MRS A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl Abnormal brain choline level by magnetic resonance spectroscopy 2016-09-25 16:48:23+00:00 HPO:probinson owl:Class HP:0040116 biolink:NamedThing Aplasia of the Eustachian tube tmpxe7fu0cj_hp_relaxed.owl Absent eustachian tube UMLS:C0266616|SNOMEDCT_US:75231006 HPO:skoehler owl:Class HP:0031689 biolink:NamedThing Megakaryocyte dysplasia The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei. tmpxe7fu0cj_hp_relaxed.owl Dysmegakaryopoiesis 2017-12-17 22:09:51+00:00 peter owl:Class HP:0011701 biolink:NamedThing Multifocal atrial tachycardia Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic. tmpxe7fu0cj_hp_relaxed.owl Chaotic atrial tachycardia|Ectopic atrial tachycardia UMLS:C0221158|SNOMEDCT_US:49982000 peter 2012-04-10T11:20:13Z human_phenotype owl:Class HP:0005793 biolink:NamedThing Shortening of all distal phalanges of the toes Abnormally short distal phalanx of toe of all toes. tmpxe7fu0cj_hp_relaxed.owl Shortening of all outermost bone of the toes UMLS:C4025132 human_phenotype owl:Class HP:0001857 biolink:NamedThing Short distal phalanx of toe Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe. tmpxe7fu0cj_hp_relaxed.owl Short outermost bone of toe|Hypoplastic distal phalanges of feet UMLS:C4021771 This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. human_phenotype owl:Class HP:0009893 biolink:NamedThing Telangiectasia of the ear The presence of telangiectasia of the ear. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024169 peter 2009-04-30T10:07:39Z human_phenotype owl:Class HP:0011934 biolink:NamedThing Dilatation of mesenteric artery Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery . tmpxe7fu0cj_hp_relaxed.owl Mesenteric artery aneurysm UMLS:C4023119 Aneurysm is considered a severe form of dilatation. peter 2012-06-10T01:48:30Z human_phenotype owl:Class UBERON:0006328 biolink:NamedThing laryngeal intrinsic muscle tmpxe7fu0cj_hp_relaxed.owl intrinsic muscle of larynx|intrinsic laryneal muscles|intrinsic laryngeal muscle MA:0001770|EMAPA:37630|FMA:55226 uberon owl:Class HP:0012563 biolink:NamedThing Premature epimetaphyseal fusion in foot Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022843 peter 2014-01-04T02:05:25Z human_phenotype owl:Class HP:0002169 biolink:NamedThing Clonus A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. tmpxe7fu0cj_hp_relaxed.owl Involuntary rhythmic muscular contractions and relaxations SNOMEDCT_US:36649002|UMLS:C0009024 Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal. owl:Class HP:0004054 biolink:NamedThing Sclerosis of hand bone Osteosclerosis affecting one or more bones of the hand. tmpxe7fu0cj_hp_relaxed.owl Generalized sclerosis of hand bones|Hand bone sclerosis|Increased bone density in hand bones|Generalised sclerosis of hand bones|Increased bone density in hand bone UMLS:C4021684 HP:0004055 human_phenotype owl:Class UBERON:0004553 biolink:NamedThing forelimb digital artery A digital artery that is part of a forelimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl forelimb digital arteries|wing digital artery|digital artery of manus MA:0001953|EMAPA:37210 uberon owl:Class GO:0010623 biolink:NamedThing programmed cell death involved in cell development The activation of endogenous cellular processes that result in the death of a cell as part of its development. tmpxe7fu0cj_hp_relaxed.owl programmed cell death involved in development|developmental programmed cell death This process is part of the natural developmental program of some cell types, but it does not always happen as part of the development or shaping of a gross anatomical structure. biological_process owl:Class HP:0005357 biolink:NamedThing Defective B cell differentiation Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859624 human_phenotype owl:Class HP:0200083 biolink:NamedThing Severe limb shortening tmpxe7fu0cj_hp_relaxed.owl Severe limb shortening UMLS:C1835446 sebastiankohler 2013-06-03T04:14:07Z human_phenotype owl:Class HP:0002983 biolink:NamedThing Micromelia The presence of abnormally small extremities. tmpxe7fu0cj_hp_relaxed.owl Smaller or shorter than typical limbs MEDDRA:10027546|SNOMEDCT_US:74370006|UMLS:C0025995 HP:0005753|HP:0003030 human_phenotype owl:Class CL:0000447 biolink:NamedThing carbohydrate secreting cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0002080 biolink:NamedThing Intention tremor A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). tmpxe7fu0cj_hp_relaxed.owl Terminal tremor|Cerebellar tremor UMLS:C4020856|SNOMEDCT_US:30721006|MSH:D014202|UMLS:C0234376 human_phenotype owl:Class UBERON:0010886 biolink:NamedThing hindlimb pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a hindlimb bone. tmpxe7fu0cj_hp_relaxed.owl hindlimb pre-cartilage condensation EMAPA:32638 uberon owl:Class UBERON:0004311 biolink:NamedThing distal phalanx of manual digit 2 A distal phalanx that is part of a hand digit 2 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl 2nd digit of hand distal phalanx|2nd finger distal phalanx|second distal phalanx of hand|distal phalanx of second digit of hand|distal phalanx of 2nd digit of hand|distal phalanx of manual digit II|distal phalanx of second finger|hand digit 2 distal phalanx|distal phalanx of index finger|second finger distal phalanx|distal phalanx of 2nd finger FMA:23946 uberon owl:Class HP:0009246 biolink:NamedThing Aplasia of the distal phalanx of the 5th finger Absence of the distal phalanx of the little (5th) finger. tmpxe7fu0cj_hp_relaxed.owl Absent outermost little finger bone|Absent outermost pinky finger bone|Absent outermost pinkie finger bone UMLS:C4024501 doelkens 2009-01-05T07:27:52Z human_phenotype owl:Class HP:0032969 biolink:NamedThing Traction bronchiectasis Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts. tmpxe7fu0cj_hp_relaxed.owl The juxtaposition of numerous cystic airways may make the distinction from pure fibrotic honeycombing difficult. Also the differentation to peribronchovascular interstitial thickening can be difficult, but they can be distinguished on the basis of symptoms or pulmonary function abnormalities. In addition, patients with traction bronchiectasis have abnormal thick-walled and dilated bronchi that often appear much larger than the adjacent pulmonary artery braches, with a bronchoarterial ratio exceeding 1. This results in the appearance of an additional finding, the signet ring sign (HP:0032175). peter owl:Class HP:0012900 biolink:NamedThing Myotonia of the face Slowed relaxation of muscles in the face. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022686 peter 2014-06-23T11:14:55Z human_phenotype owl:Class GO:0060605 biolink:NamedThing tube lumen cavitation The formation of a lumen by hollowing out a solid rod or cord. tmpxe7fu0cj_hp_relaxed.owl dph 2009-05-15T09:39:49Z biological_process owl:Class HP:0033298 biolink:NamedThing Abnormal circulating complement factor H related protein 1 concentration A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1) tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 21:49:11+00:00 Complement factor H-related protein 1 (CFHR1) is a complement regulator which has been reported to regulate complement by blocking C5 convertase activity and interfering with C5b surface association. CFHR1 also competes with complement factor H (CFH) for binding to C3b, and may act as an antagonist of CFH-directed regulation on cell surfaces. peter owl:Class HP:0004976 biolink:NamedThing Knee dislocation tmpxe7fu0cj_hp_relaxed.owl Knee dislocations|Dislocations of the knees SNOMEDCT_US:58320001|MSH:D031221|UMLS:C0159970 HP:0006469 human_phenotype owl:Class HP:0005390 biolink:NamedThing Recurrent opportunistic infections Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. tmpxe7fu0cj_hp_relaxed.owl Frequent opportunistic infections UMLS:C1832324 HP:0005426 human_phenotype owl:Class HP:0000605 biolink:NamedThing Supranuclear gaze palsy A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. tmpxe7fu0cj_hp_relaxed.owl Supranuclear gaze paralysis UMLS:C1720037|SNOMEDCT_US:420675003 human_phenotype owl:Class HP:0031913 biolink:NamedThing Rhombencephalosynapsis Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis. tmpxe7fu0cj_hp_relaxed.owl 2018-06-23 17:46:39+00:00 Rhombencephalosynapsis occurs in isolation or in combination with other CNS and extra-CNS malformations. The most common congenital anomaly syndrome associated with RES is Gomez-Lopez-Hernandez syndrome. peter owl:Class HP:0006216 biolink:NamedThing Single interphalangeal crease of fifth finger Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger. tmpxe7fu0cj_hp_relaxed.owl Fifth finger single interphalangeal crease UMLS:C1850336 HP:0006245 human_phenotype owl:Class HP:0004792 biolink:NamedThing Rectoperineal fistula The presence of a fistula between the perineum and the rectum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0240880 human_phenotype owl:Class HP:0007443 biolink:NamedThing Partial albinism Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs. tmpxe7fu0cj_hp_relaxed.owl Congenital partial albinism on face, trunk, or limbs|Partial absent skin pigmentation|Congenital partial leucoderma MSH:D016116|UMLS:C0080024|SNOMEDCT_US:6479008|SNOMEDCT_US:718122005 HP:0001044 human_phenotype owl:Class HP:0010191 biolink:NamedThing Symphalangism affecting the distal phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Fused outermost bones of toes UMLS:C4023978 doelkens 2009-05-29T01:52:41Z human_phenotype owl:Class CHEBI:22658 biolink:NamedThing aspartate family amino acid An L-alpha-amino acid which is L-aspartic acid or any of the essential amino acids biosynthesised from it (asparagine, lysine, methionine, threonine and isoleucine). A closed class. tmpxe7fu0cj_hp_relaxed.owl oxaloacetate family amino acid|oxaloacetate family amino acids|aspartic acid family amino acids|oxaloacetate/aspartate family amino acid|aspartate family amino acids|oxaloacetate/aspartate family amino acids|aspartic acid family amino acid PMID:5016260|PMID:4721772|PMID:5074276|PMID:4386082|PMID:4394351 chebi_ontology owl:Class HP:0025329 biolink:NamedThing Anti-glutamic acid decarboxylase antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase. tmpxe7fu0cj_hp_relaxed.owl Anti-GAD antibody positivity 2017-02-11 11:15:35+00:00 The enzyme called glutamate decarboxylase or glutamic acid decarboxylase (GAD) catalyyzes the conversion of glutamate to gamma aminobutyric acid (g-Amino butyric acid, GABA). Autoantibodies against GAD this antibody may block the conversion of glutamate to GABA. and lead to a reduction in the amount of GABA in the nervous system. HPO:probinson owl:Class HP:0500243 biolink:NamedThing Abnormal CSF ornithine concentration Any deviation from the normal concentration of ornithine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal ornithine levels in cerebrospinal fluid 2019-02-26 15:36:15+00:00 owl:Class HP:0009025 biolink:NamedThing Increased connective tissue The presence of an abnormally increased amount of connective tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866021 human_phenotype owl:Class HP:0031761 biolink:NamedThing Infantile constant esotropia Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction. tmpxe7fu0cj_hp_relaxed.owl Infantile (constant) esotropia 2018-01-21 14:47:01+00:00 peter owl:Class HP:0000125 biolink:NamedThing Pelvic kidney A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. tmpxe7fu0cj_hp_relaxed.owl Sacral kidney SNOMEDCT_US:56108007|UMLS:C0221209 human_phenotype owl:Class CL:0000178 biolink:NamedThing Leydig cell A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis. tmpxe7fu0cj_hp_relaxed.owl interstitial cell|interstitial cell of Leydig EMAPA:29655|CALOHA:TS-1150|BTO:0000755|FMA:72297 Note that the Amphibian Anatomy Ontology (AA) has a class 'leydig cells' but this is unrelated cell owl:Class CL:0000177 biolink:NamedThing testosterone secreting cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0030389 biolink:NamedThing Abnormal circulating thromboxane concentration Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072926 owl:Class HP:0010788 biolink:NamedThing Testicular neoplasm The presence of a neoplasm of the testis. tmpxe7fu0cj_hp_relaxed.owl Testicular tumor|Testicular tumour|Testicular cancer|Testicular neoplasia UMLS:C0039590|MSH:D013736|SNOMEDCT_US:126900000|NCIT:C3262 sdoelken 2010-05-04T09:48:35Z human_phenotype owl:Class HP:0034052 biolink:NamedThing Impaired toe-walking ability Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes. tmpxe7fu0cj_hp_relaxed.owl 2021-10-19 17:13:55+00:00 peter owl:Class HP:0004235 biolink:NamedThing Comma-shaped carpal bones tmpxe7fu0cj_hp_relaxed.owl Comma-shaped wrist bones UMLS:C4025402 human_phenotype owl:Class UBERON:0003593 biolink:NamedThing thoracic cavity connective tissue A portion of connective tissue that is part of a thoracic cavity [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl connective tissue of cavity of thorax|chest cavity connective tissue|textus connectivus of pectoral cavity|textus connectivus of cavity of chest|chest cavity portion of connective tissue|portion of connective tissue of cavity of chest|cavity of thorax connective tissue|connective tissue of chest cavity|portion of connective tissue of chest cavity|pectoral cavity textus connectivus|textus connectivus of thoracic cavity|cavity of chest connective tissue|cavity of thorax portion of connective tissue|chest cavity textus connectivus|thoracic cavity portion of connective tissue|connective tissue of thoracic cavity|cavity of chest portion of connective tissue|pectoral cavity portion of connective tissue|textus connectivus of cavity of thorax|pectoral cavity connective tissue|connective tissue of pectoral cavity|portion of connective tissue of cavity of thorax|connective tissue of cavity of chest|thoracic cavity textus connectivus|portion of connective tissue of thoracic cavity|portion of connective tissue of pectoral cavity|cavity of thorax textus connectivus|cavity of chest textus connectivus|textus connectivus of chest cavity EMAPA:37255|MA:0000555 uberon owl:Class HP:0032418 biolink:NamedThing Abnormal HDL subfraction concentration An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm). tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:28:34+00:00 Traditionally, HDL is separated into two major subclasses (HDL2 and HDL3), but depending on the separation method used, u[ to 10 subfractions have been reported. peter owl:Class HP:0012183 biolink:NamedThing Hyperplastic colonic polyposis Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023010 peter 2013-02-24T09:08:55Z human_phenotype owl:Class HP:0010676 biolink:NamedThing Mechanical ileus tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:46420000|UMLS:C0400843 sandra1 2010-03-01T08:43:38Z human_phenotype owl:Class GO:0036065 biolink:NamedThing fucosylation The covalent attachment of a fucosyl group to an acceptor molecule. tmpxe7fu0cj_hp_relaxed.owl bf 2011-12-15T11:16:19Z biological_process owl:Class GO:0070085 biolink:NamedThing glycosylation The covalent attachment and further modification of carbohydrate residues to a substrate molecule. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Glycosylation biological_process owl:Class GO:0110057 biolink:NamedThing regulation of blood vessel endothelial cell differentiation Any process that modulates the frequency, rate or extent of blood vessel endothelial cell differentiation. tmpxe7fu0cj_hp_relaxed.owl kmv 2017-10-23T14:32:09Z biological_process owl:Class HP:0009227 biolink:NamedThing Broad proximal phalanx of the 5th finger Increased width of the proximal phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Broad innermost little finger bone|Broad innermost pinky finger bone|Wide proximal phalanx of the 5th finger|Broad innermost pinkie finger bone UMLS:C4021508 doelkens 2009-01-05T06:11:33Z human_phenotype owl:Class CHEBI:29057 biolink:NamedThing keratan tmpxe7fu0cj_hp_relaxed.owl CHEBI:14490|CHEBI:24954 chebi_ontology owl:Class GO:0072507 biolink:NamedThing divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl Note that this term was split from 'di-, tri-valent inorganic cation homeostasis ; GO:0055066' (sibling term 'trivalent inorganic cation homeostasis' ; GO:0072508'). mah 2010-12-16T03:22:48Z biological_process owl:Class GO:0090497 biolink:NamedThing mesenchymal cell migration The orderly movement of a mesenchymal cell from one site to another, often during the development of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl tb 2012-10-17T12:08:17Z biological_process owl:Class HP:0001030 biolink:NamedThing Fragile skin Skin that splits easily with minimal injury. tmpxe7fu0cj_hp_relaxed.owl Fragile skin|Skin fragility UMLS:C0241181|MEDDRA:10040851|SNOMEDCT_US:247427007 owl:Class HP:0500074 biolink:NamedThing Dissociated vertical deviation An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering. tmpxe7fu0cj_hp_relaxed.owl 2018-02-26 18:53:08+00:00 Dissociated vertical deviation (DVD) occurs when the level of illumination received by either eye is reduced sufficiently and as a result eye deviates progressively upwards, but reverts to its original position when the level of illumination returns to normally acceptable levels. It may sometimes be so asymmetrical as to be virtually unilateral and is associated with heterotropia usually of early onset. ORCID:0000-0001-7941-2961 owl:Class HP:0500073 biolink:NamedThing Abnormal ocular alignment Any deviation from the normal ocular alignment. tmpxe7fu0cj_hp_relaxed.owl 2018-02-26 18:50:33+00:00 ORCID:0000-0001-7941-2961 owl:Class PATO:0002162 biolink:NamedThing high-arched A concave quality inhering in a bearer by virtue of the bearer's forming or resembling an arch of an increased apical height. tmpxe7fu0cj_hp_relaxed.owl 2009-11-26T02:34:06Z quality owl:Class HP:0008366 biolink:NamedThing Contractures involving the joints of the feet tmpxe7fu0cj_hp_relaxed.owl Contractures of the foot joints SNOMEDCT_US:239742004|UMLS:C0343149 peter 2008-04-04T11:44:00Z human_phenotype owl:Class CHEBI:58389 biolink:NamedThing trimethylammonium An ammonium ion that is the conjugate acid of trimethylamine, obtained via protonation of the nitrogen; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl trimethylammonium cation|trimethylamine|trimethylazanium cation|trimethylazanium|N,N-dimethylmethanaminium +1 C3H10N InChI=1S/C3H9N/c1-4(2)3/h1-3H3/p+1 GETQZCLCWQTVFV-UHFFFAOYSA-O 60.11820 60.08078 C[NH+](C)C Reaxys:16709444|MetaCyc:TRIMETHYLAMINE chebi_ontology owl:Class HP:0100855 biolink:NamedThing Triceps hypoplasia Hypoplasia of the triceps muscle. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped triceps|Small triceps UMLS:C4021954 doelkens 2011-11-30T09:56:14Z human_phenotype owl:Class HP:0009784 biolink:NamedThing Aplasia/Hypoplasia of the triceps Absence or underdevelopment of the triceps muscle. tmpxe7fu0cj_hp_relaxed.owl Absent/small triceps|Absent/underdeveloped triceps UMLS:C4024208 peter 2009-02-03T04:58:31Z human_phenotype owl:Class HP:0025435 biolink:NamedThing Increased circulating lactate dehydrogenase concentration An elevated level of the enzyme lactate dehydrogenase in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased lactate dehydrogenase level 2017-04-23 17:11:02+00:00 Lactate dehydrogenase catalyzes the interconversion of lactate and pyruvate. HPO:probinson owl:Class HP:0011213 biolink:NamedThing EEG with photoparoxysmal response grade III Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023462 peter 2011-11-19T12:59:57Z human_phenotype owl:Class HP:0032661 biolink:NamedThing Generalized convulsive status epilepticus A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. tmpxe7fu0cj_hp_relaxed.owl Generalised convulsive status epilepticus peter owl:Class HP:0032660 biolink:NamedThing Convulsive status epilepticus A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between. comment: source: seeAlso: Tonic-clonic status epilepticus tmpxe7fu0cj_hp_relaxed.owl Tonic-clonic status epilepticus In 2015, the ILAE Task Force on Classification of Status Epilepticus did proposed that time t1 (indicating the time that emergency treatment should be started because the seizure is unlikely to terminate spontaneously) is 5 minutes and t2 (the time at which long-term consequences of the seizure may be expected) is 30 minutes for convulsive (tonic-clonic) status epilepticus.This 5-minute timeframe has been endorsed by the 2012 Neurocritical Care Society Guidelines and the 2016 American Epilepsy Society Guidelines to guide when emergent treatment for convulsive status epilepticus should start. This term includes convulsive status epilepticus of focal, generalized or unknown onset. peter owl:Class HP:3000045 biolink:NamedThing Abnormality of genioglossus muscle An abnormality of a genioglossus muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073253 vasilevs 2015-08-07T01:04:53Z human_phenotype owl:Class PR:000049996 biolink:NamedThing active alpha-amylase isozyme (human) An active alpha-amylase isozyme that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl fam:hAMY Category=organism-family. Requested by=HPO. Note: The enzymatic activity corresponds to EC 3.2.1.1. This class refers only to functional enzymes; that is, those with measurable activity. The isozymes are produced by the salivary glands (the identical AMY1A, AMY1B, and AMY1C genes) and the pancreas (AMY2A and AMY2B genes). protein owl:Class GO:1902173 biolink:NamedThing negative regulation of keratinocyte apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of keratinocyte apoptotic process. tmpxe7fu0cj_hp_relaxed.owl downregulation of keratinocyte apoptotic process|inhibition of keratinocyte apoptosis|down regulation of keratinocyte apoptotic process|negative regulation of keratinocyte apoptosis|inhibition of keratinocyte apoptotic process|down-regulation of keratinocyte apoptotic process|down-regulation of keratinocyte apoptosis|downregulation of keratinocyte apoptosis|down regulation of keratinocyte apoptosis rl 2013-05-29T14:36:15Z biological_process owl:Class HP:0025371 biolink:NamedThing Delayed ossification of the sacrum Formation of the sacrum bone tissue occurs later than age-adjusted norms. tmpxe7fu0cj_hp_relaxed.owl 2017-02-20 14:47:07+00:00 HPO:probinson owl:Class HP:0025370 biolink:NamedThing Abnormal ossification of the sacrum Abnormal bone tissue formation (ossification) affecting the sacrum. tmpxe7fu0cj_hp_relaxed.owl 2017-02-20 14:45:33+00:00 HPO:probinson owl:Class HP:0040102 biolink:NamedThing Osseous atresia of the external auditory canal tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022439 HPO:skoehler owl:Class HP:0025369 biolink:NamedThing Thick growth plates Increased thickness (dimension along the axis of the bone) of the growth plate. tmpxe7fu0cj_hp_relaxed.owl 2017-02-20 14:40:12+00:00 HPO:probinson owl:Class HP:0025368 biolink:NamedThing Abnormality of growth plate morphology A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone). tmpxe7fu0cj_hp_relaxed.owl 2017-02-20 14:32:08+00:00 HPO:probinson owl:Class HP:0000096 biolink:NamedThing Glomerular sclerosis Accumulation of scar tissue within the glomerulus. tmpxe7fu0cj_hp_relaxed.owl Glomerulosclerosis|Renal glomerular fibrosis SNOMEDCT_US:197661001|UMLS:C0178664|SNOMEDCT_US:82646005 HP:0030761 owl:Class UBERON:0014381 biolink:NamedThing whorl of hair A patch of hair growing in the opposite direction of the rest of the hair. tmpxe7fu0cj_hp_relaxed.owl hair whorl|whorl Hair whorls occur in most hairy animals, on the body as well as on the head. Hair whorls, also known as crowns, swirls, trichoglyphs, or cowlicks, can be either clockwise or counterclockwise in direction of growth.[WP] uberon owl:Class HP:0003616 biolink:NamedThing Premature separation of centromeric heterochromatin tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849316 human_phenotype owl:Class HP:0007335 biolink:NamedThing Recurrent encephalopathy Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections. tmpxe7fu0cj_hp_relaxed.owl Recurrent cerebellar and extrapyramidal encephalopathy UMLS:C1850719 HP:0006947 human_phenotype owl:Class UBERON:0015751 biolink:NamedThing inferior tarsal muscle A smooth muscle tissue that is part of a inferior eyelid tarsus. tmpxe7fu0cj_hp_relaxed.owl FMA:49059 uberon owl:Class HP:0030172 biolink:NamedThing Peripheral amyelination Congenital absence of the myelin sheath on a nerve. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022600 owl:Class GO:0045739 biolink:NamedThing positive regulation of DNA repair Any process that activates or increases the frequency, rate or extent of DNA repair. tmpxe7fu0cj_hp_relaxed.owl activation of DNA repair|up-regulation of DNA repair|upregulation of DNA repair|stimulation of DNA repair|up regulation of DNA repair biological_process owl:Class HP:0100310 biolink:NamedThing Epidural hemorrhage Hemorrhage occurring between the dura mater and the skull. tmpxe7fu0cj_hp_relaxed.owl Epidural haemorrhage|Extradural hematoma|Epidural hematoma|Extradural haematoma|Epidural haematoma MSH:D006407|UMLS:C0238154|SNOMEDCT_US:82999001|SNOMEDCT_US:428268007 Intracranial bleeding occuring between the dura mater (the tough outer membrane of the central nervous system) and the skull. The dura mater also covers the spine, so epidural bleeds may also occur in the spinal column. doelkens 2010-08-10T03:05:35Z human_phenotype owl:Class HP:0100904 biolink:NamedThing Sclerosis of the middle phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the middle bone of the index finger UMLS:C4021938 human_phenotype owl:Class HP:0100179 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the outermost bone of the 4th toe UMLS:C4022242 doelkens 2010-06-24T04:53:36Z human_phenotype owl:Class HP:0032837 biolink:NamedThing Bilateral asymmetric neonatal sequential seizure Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures. tmpxe7fu0cj_hp_relaxed.owl No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic etiology. peter owl:Class HP:0032825 biolink:NamedThing Neonatal electro-clinical sequential seizure Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures. tmpxe7fu0cj_hp_relaxed.owl Neonatal electroclinical sequential seizure No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic aetiology. peter owl:Class HP:0033292 biolink:NamedThing Glomerular fibrin thrombus An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 21:27:52+00:00 peter owl:Class HP:0002174 biolink:NamedThing Postural tremor A type of tremors that is triggered by holding a limb in a fixed position. tmpxe7fu0cj_hp_relaxed.owl Tremor, postural UMLS:C0234378|SNOMEDCT_US:56610005|MSH:D014202 HP:0006925|HP:0007197 human_phenotype owl:Class HP:0001899 biolink:NamedThing Increased hematocrit An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. tmpxe7fu0cj_hp_relaxed.owl Increased Hct UMLS:C0239935 human_phenotype owl:Class HP:0006571 biolink:NamedThing Reduced number of intrahepatic bile ducts The presence of reduced numbers of intrahepatic bile duct than normal. tmpxe7fu0cj_hp_relaxed.owl Hepatic ductopenia|Intrahepatic duct deficiency UMLS:C1861621|UMLS:C4021591 human_phenotype owl:Class HP:0033160 biolink:NamedThing Decreased urinary guanosine level Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond. tmpxe7fu0cj_hp_relaxed.owl 2020-09-24 09:11:27+00:00 peter owl:Class HP:0033161 biolink:NamedThing Abnormal urinary purine level Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines. tmpxe7fu0cj_hp_relaxed.owl 2020-09-24 09:13:18+00:00 peter owl:Class HP:0005441 biolink:NamedThing Sclerotic cranial sutures An increased density in the cranial sutures following obliteration. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025195 human_phenotype owl:Class HP:0000723 biolink:NamedThing Restrictive behavior Behavior characterized by an abnormal limitation to few interests and activities. tmpxe7fu0cj_hp_relaxed.owl Restrictive behaviour|Restricted behavior|Restrictive behavior, interests, and activities|Restricted behaviour UMLS:C4021799|UMLS:C2675334 human_phenotype owl:Class GO:0044458 biolink:NamedThing motile cilium assembly The aggregation, arrangement and bonding together of a set of components to form a motile cilium. tmpxe7fu0cj_hp_relaxed.owl nodal cilium assembly|motile primary cilium formation|motile primary cilia assembly|motile primary cilia formation|nodal cilium formation|motile primary cilium assembly krc 2015-02-06T17:23:23Z GO:1903887 biological_process owl:Class GO:0006448 biolink:NamedThing regulation of translational elongation Any process that modulates the frequency, rate, extent or accuracy of translational elongation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0046942 biolink:NamedThing carboxylic acid transport The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0030037 biolink:NamedThing Bifid ureter Incomplete duplication of the ureter. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3887498 owl:Class HP:0006247 biolink:NamedThing Enlarged interphalangeal joints tmpxe7fu0cj_hp_relaxed.owl Enlarged hinge joints UMLS:C1859701 human_phenotype owl:Class PR:Q63994 biolink:NamedThing myeloid cell surface antigen CD33 (mouse) A CD33 molecule that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl siglec-3 (mouse)|CD33 (mouse)|Cd33|sialic acid-binding Ig-like lectin 3 (mouse)|Siglec3|mCD33 UniProtKB:Q63994 Category=organism-gene. protein owl:Class HP:0040075 biolink:NamedThing Hypopituitarism tmpxe7fu0cj_hp_relaxed.owl MSH:D007018|UMLS:C0020635|SNOMEDCT_US:74728003 HPO:skoehler owl:Class HP:0002253 biolink:NamedThing Colonic diverticula The presence of multiple diverticula of the colon. tmpxe7fu0cj_hp_relaxed.owl Colonic diverticulosis|Colon diverticula UMLS:C0012811|MSH:D004241|UMLS:C0012819|SNOMEDCT_US:398050005|MEDDRA:10009993|MSH:D043963 HP:0005860 human_phenotype owl:Class UBERON:0002200 biolink:NamedThing vasculature of head Vasculature that is part of a head [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl head vasculature|vascular network of head|cranial vasculature|vascular network of adult head|vasculature of adult head|adult head vascular network|head vascular network|adult head vasculature TAO:0001267|EFO:0003656|ZFA:0001267|FMA:74710|XAO:0004152 uberon owl:Class HP:0025712 biolink:NamedThing Spontaneous chorioamniotic separation Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis). tmpxe7fu0cj_hp_relaxed.owl The separation of the chorion and amnion before 14 weeks' of gestation is physiologically normal. The amnion and chorion usually fuse between 14 and 16 weeks, and any chorioamniotic separation (CAS) that persists after 16 weeks is uncommon and anomalous. CAS can occur spontaneously or after an intrauterine intervention such as amniocentesis, fetal blood sampling, or fetal surgery. peterrobinson owl:Class HP:0030434 biolink:NamedThing Pilomatrixoma Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm. tmpxe7fu0cj_hp_relaxed.owl MSH:D018296|UMLS:C0206711|SNOMEDCT_US:274901004|SNOMEDCT_US:44155009 Pilomatricomas usually are asymptomatic (pain appears only with associated inflammation and ulceration); deeply seated, firm, nontender subcutaneous masses adherent to the skin but not fixed to the underlying tissue. Stretching of the skin over the tumor shows the "tent sign" with multiple facets and angles, a pathognomonic sign for pilomatricoma. In addition, pressing on one edge of the lesion causes the opposite edge to protrude from the skin like a "teeter-totter". Both these "tent sign" and "teeter-totter sign" are the most helpful clinical clues to the diagnosis of pilomatricoma. owl:Class HP:0009573 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 2nd finger Uneven (irregular) increase in bone density of the middle phalanx of the second finger. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the middle bone of the index finger UMLS:C4024285 doelkens 2009-01-28T05:10:24Z human_phenotype owl:Class HP:0040278 biolink:NamedThing Prolactinoma A benign tumor (adenoma) of the pituitary gland tmpxe7fu0cj_hp_relaxed.owl Associated with increased prolactin in the blood (hyperprolactinemia) owl:Class GO:0060978 biolink:NamedThing angiogenesis involved in coronary vascular morphogenesis Blood vessel formation in the heart when new vessels emerge from the proliferation of pre-existing blood vessels. tmpxe7fu0cj_hp_relaxed.owl coronary vasculature angiogenesis|angiogenesis involved in heart vascular morphogenesis|coronary blood vessel angiogenesis|angiogenesis involved in cardiac vascular morphogenesis dph 2009-10-06T02:02:12Z biological_process owl:Class GO:0001525 biolink:NamedThing angiogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. tmpxe7fu0cj_hp_relaxed.owl blood vessel formation from pre-existing blood vessels Wikipedia:Angiogenesis biological_process owl:Class HP:0032332 biolink:NamedThing Oligoclonal elevation of circulating IgM An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase. tmpxe7fu0cj_hp_relaxed.owl 2019-02-18 14:07:45+00:00 peter owl:Class GO:0046034 biolink:NamedThing ATP metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. tmpxe7fu0cj_hp_relaxed.owl ATP metabolism biological_process owl:Class HP:0025044 biolink:NamedThing Lung abscess A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity. tmpxe7fu0cj_hp_relaxed.owl 2016-09-25 14:30:50+00:00 HPO:probinson owl:Class HP:0011947 biolink:NamedThing Respiratory tract infection An infection of the upper or lower respiratory tract. tmpxe7fu0cj_hp_relaxed.owl Respiratory tract infection|Respiratory infection|Respiratory infections UMLS:C0035243|MSH:D012141|SNOMEDCT_US:275498002 peter 2012-06-21T08:26:36Z owl:Class HP:0003224 biolink:NamedThing Increased cellular sensitivity to UV light tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857707 human_phenotype owl:Class CHEBI:35136 biolink:NamedThing iron protein tmpxe7fu0cj_hp_relaxed.owl iron-containing proteins|iron proteins|iron protein COMe:PRX000004 chebi_ontology owl:Class CHEBI:35134 biolink:NamedThing metalloprotein tmpxe7fu0cj_hp_relaxed.owl metalloproteine|metalloprotein|metalloproteins COMe:PRX000002 chebi_ontology owl:Class GO:0140297 biolink:NamedThing DNA-binding transcription factor binding Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. tmpxe7fu0cj_hp_relaxed.owl repressing transcription factor binding|transcription activator binding|activating transcription factor binding https://github.com/geneontology/go-ontology/issues/19354 pg 2018-11-28T12:48:20Z GO:0070491|GO:0033613|GO:0001107 molecular_function owl:Class HP:0032930 biolink:NamedThing Lacunar halos around chondrocytes Concentric rings around the chondrocytes. tmpxe7fu0cj_hp_relaxed.owl See Figure 2 in PMID:8571951. peter owl:Class HP:0100190 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the middle bone of the 4th toe UMLS:C4022231 doelkens 2010-06-24T04:54:13Z human_phenotype owl:Class HP:0100407 biolink:NamedThing Complete duplication of the distal phalanx of the 3rd toe Complete duplication of distal phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the outermost bone of the 3rd toe|Complete duplication of the distal phalanx of the third toe UMLS:C4020990 human_phenotype owl:Class HP:0032434 biolink:NamedThing Delayed umbilical cord separation Separation of the umbilical cord occurs at an abnormally late timepoint. tmpxe7fu0cj_hp_relaxed.owl Delayed separation of umbilical cord 2019-03-02 15:01:57+00:00 The umbilical cord of the newborn usually separates and sloughs by the end of the second postnatal week. However, a wide variation exists in the age at which cord separation occurs in healthy infants with regard to ethnicity, geographical location, and methods of cord care. A marked delay in cord separation raises the suspicion of leukocyte adhesion deficiency, a rare disorder leading to defective neutrophil function. peter owl:Class HP:0004881 biolink:NamedThing Episodic hypoventilation tmpxe7fu0cj_hp_relaxed.owl Episodic slow breathing|Episodic under breathing UMLS:C1844946 human_phenotype owl:Class HP:0410009 biolink:NamedThing Abnormality of the somatic nervous system Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073188 The SoNS consists of afferent and efferent nerves. Afferent nerves are responsible for relaying sensation to the central nervous system; efferent nerves are responsible for stimulating muscle contraction, including all the non-sensory neurons connected with skeletal muscles and skin. owl:Class HP:0005766 biolink:NamedThing Disproportionate shortening of the tibia tmpxe7fu0cj_hp_relaxed.owl Disproportionate shortening of the shankbone|Marked shortening of tibia|Disproportionate shortening of the shinbone UMLS:C3806516 human_phenotype owl:Class HP:0032134 biolink:NamedThing Chronic decreased circulating total IgG A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. tmpxe7fu0cj_hp_relaxed.owl Chronic decreased total IgG in blood 2018-11-22 14:09:15+00:00 peter owl:Class HP:0007791 biolink:NamedThing Patchy atrophy of the retinal pigment epithelium Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024800 human_phenotype owl:Class HP:0031068 biolink:NamedThing Increased femoral torsion Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 22:50:19+00:00 peter owl:Class GO:0055025 biolink:NamedThing positive regulation of cardiac muscle tissue development Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle tissue development. tmpxe7fu0cj_hp_relaxed.owl upregulation of cardiac muscle development|up regulation of cardiac muscle development|activation of cardiac muscle development|up-regulation of cardiac muscle development|stimulation of cardiac muscle development|positive regulation of heart muscle development biological_process owl:Class HP:0033520 biolink:NamedThing Paradoxical embolism Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation. Comment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke. tmpxe7fu0cj_hp_relaxed.owl 2021-01-13 13:59:14+00:00 peter owl:Class HP:0006423 biolink:NamedThing Peg-like central prominence of distal tibial metaphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C1846160 human_phenotype owl:Class HP:0006491 biolink:NamedThing Abnormality of the tibial metaphysis tmpxe7fu0cj_hp_relaxed.owl Abnormality of the wide portion of shankbone|Abnormality of the wide portion of shinbone UMLS:C4025038 peter 2008-03-28T06:03:00Z human_phenotype owl:Class GO:0032418 biolink:NamedThing lysosome localization Any process in which a lysosome is transported to, and/or maintained in, a specific location. tmpxe7fu0cj_hp_relaxed.owl lysosome localisation biological_process owl:Class HP:0000858 biolink:NamedThing Irregular menstruation Abnormally high variation in the amount of time between periods. tmpxe7fu0cj_hp_relaxed.owl Irregular periods|Menstrual irregularities|Menstrual irregularity|Irregular menses SNOMEDCT_US:80182007|UMLS:C0156404 Most women have between 11 and 13 menstrual periods each year. Bleeding usually lasts around 5 days (range: 2 to 7 days). When menstruation first starts, it can take up to 2 years to establish a regular cycle. After puberty, most women's menstruation is regular. The length of time between each period is similar. The normal menstrual cycle length is 28 (+/- 7) days days with the menstruation lasting between 2 and 7 days. It can take up to 2 years from menarche to develop a mature hypothalamic-pituitary-gonadal (HPG) axis. Within 1 year, 75 percent of girls have a cycle between 21 and 45 days. By the fifth gynecological year, 90 percent of girls will have regular cycles. owl:Class GO:0014019 biolink:NamedThing neuroblast development The process aimed at the progression of a neuroblast over time, from initial commitment of the cell to a specific state, to the mature neuroblast. It does not include processes where the neuroblast turns into a glial cell or a neuron. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0034099 biolink:NamedThing Anti-phosphatidyl inositol antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 14:57:17+00:00 peter owl:Class UBERON:0002421 biolink:NamedThing hippocampal formation Hippocampus (proper) plus dentate gyrus and subiculum[definition derived from NIF comments and ontology alignment]. tmpxe7fu0cj_hp_relaxed.owl hippocampus (Crosby)|formatio hippocampi|archipallium|hippocampus|major hippocampus|seahorse|primal cortex http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=177|EMAPA:35405|FMA:74038|MA:0000189|UMLS:C0175202|BAMS:HiF|DHBA:10294|BM:Tel-HF|BIRNLEX:715|PBA:4003|BTO:0000601|HBA:4249|BAMS:Hi|MBA:1089|BAMS:HPF The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum uberon owl:Class BTO:0000601 is placed here since it includes the DG. GO also includes dentate gyrus development as part of hippocampus development, so we assume when GO says 'hippocampus' it means 'hippocampal formation'. In ABA HPF = (.. subiculum) + HIP, HIP = DG + AH. UBERON:0005408 biolink:NamedThing circumventricular organ Any of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow. tmpxe7fu0cj_hp_relaxed.owl circumventricular organ of neuraxis|CVO|circumventricular organ NLXANAT:20090312|FMA:84081|EMAPA:35243|MA:0002942 http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray734.png uberon owl:Class All vertebrates possess at least 4 circumventricular organs (including the hypothalamus) which can monitor the contents of the cerebrospinal fluid and secrete additional substances into it. (Butler, 1996, p. 330) CVOs contain neural tissue and are an integral part of neuroendocrine function; all of the CVOs, besides the subcommissural organ, contain extensive vasculature and fenestrated capillaries which leads to a leaky BBB at the site of the organs; the lack of a BBB allows CVOs to act as an alternative route for peptides and hormones in the neural tissue to the peripheral blood stream, while still protecting it from toxic substances HP:0010201 biolink:NamedThing Triangular shaped middle phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Triangular shaped middle bones of toes UMLS:C4023972 doelkens 2009-05-29T01:53:35Z human_phenotype owl:Class UBERON:0001471 biolink:NamedThing skin of prepuce of penis The loose fold of skin that covers the penis. tmpxe7fu0cj_hp_relaxed.owl preputial skin|penis foreskin|foreskin of penis EV:0100109|FMA:27648|MA:0001744|VHOG:0001342 uberon owl:Class MAXO:0000728 biolink:NamedThing transvaginal ultrasonography A technique in which sound waves are sent out by an ultrasound probe that has been inserted in the vagina and a computer uses the ultrasound echoes to create an image of the female genital tract. The test can be performed to evaluate women with infertility problems, abnormal bleeding, sources of unexplained pain, congenital malformations of the uterus and ovaries, and possible tumors and infection. tmpxe7fu0cj_hp_relaxed.owl medical transvaginal sonography|TVU|transvaginal sonography|TVS|transvaginal ultrasound|diagnostic transvaginal ultrasound|transvaginal ultrasound examination 2020-07-16 14:38:38+00:00 NCIT:C17644 owl:Class HP:0010483 biolink:NamedThing Amniotic constriction rings of arms Amniotic constriction rings affecting the arms. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023809 peter 2009-09-16T09:15:05Z human_phenotype owl:Class GO:0050658 biolink:NamedThing RNA transport The directed movement of RNA, ribonucleic acids, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0032515 biolink:NamedThing Deep dermatophytosis A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements. tmpxe7fu0cj_hp_relaxed.owl 2019-05-26 10:20:58+00:00 Deep dermatophytosis is is found primarily in immunocompromised patients with chronic dermatophytosis. This form of invasive disease may result from follicular rupture with direct cutaneous invasion, sometimes augmented by trauma or topical corticosteroid creams. It is not necessarily associated with hair follicles and tends to be more rapid in onset, larger, and extend deeper than Majocchi's granuloma. These infections can form clusters of granulomas, pseudomycetomas, lymphedema and draining sinuses. peter owl:Class HP:0032516 biolink:NamedThing Invasive dermatophyte infection Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails. tmpxe7fu0cj_hp_relaxed.owl 2019-05-26 10:24:20+00:00 The most common presentation of dermatophytosis in clinical practice is the appearance of scaly, cutaneous lesions found on the trunk in tinea coporis (ringworm), the feet or toes in tinea pedis (athlete's foot), the crural fold in tinea cruris (jock itch), the scalp in tinea capitis (cradle cap), or a discoloration of the fingernails or toenails in tinea unguium (onychomycosis). Dermatophytosis is a typically noninvasive infection but can evolve into a more aggressive disease in the immunocompromised host. peter owl:Class HP:0001580 biolink:NamedThing Pigmented micronodular adrenocortical disease tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968851 human_phenotype owl:Class PATO:0000014 biolink:NamedThing color A composite chromatic quality composed of hue, saturation and intensity parts. tmpxe7fu0cj_hp_relaxed.owl colour|relative color PATO:0000020 quality owl:Class HP:0011044 biolink:NamedThing Abnormal number of permanent teeth The presence of an altered number of of permanent teeth. tmpxe7fu0cj_hp_relaxed.owl Abnormal number of permanent teeth|Abnormal number of adult teeth|Abnormal permanent tooth count|Abnormal number of secondary dentition|Abnormal complement of permanent teeth UMLS:C4023573 peter 2011-03-10T10:43:37Z human_phenotype owl:Class HP:0025322 biolink:NamedThing Venous occlusion Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein. tmpxe7fu0cj_hp_relaxed.owl 2017-02-03 12:05:01+00:00 HPO:probinson owl:Class HP:0033019 biolink:NamedThing Male reproductive system neoplasm A neoplasm that affects the male reproductive system. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3054 peter owl:Class HP:0002552 biolink:NamedThing Trichodysplasia Developmental dysplasia of the hair. tmpxe7fu0cj_hp_relaxed.owl Generalized trichodysplasia|Generalised trichodysplasia UMLS:C4020850|UMLS:C4025700 HP:0004515 owl:Class HP:0006863 biolink:NamedThing Severe expressive language delay A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851085|SNOMEDCT_US:62221000119105 owl:Class HP:0002474 biolink:NamedThing Expressive language delay A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. tmpxe7fu0cj_hp_relaxed.owl Deficit in expressive language|Communication delay UMLS:C0454641|UMLS:C1847610|UMLS:C4280573|SNOMEDCT_US:229734008 HP:0007192 owl:Class CHEBI:25693 biolink:NamedThing organic heteromonocyclic compound tmpxe7fu0cj_hp_relaxed.owl organic heteromonocyclic compounds chebi_ontology owl:Class GO:2001016 biolink:NamedThing positive regulation of skeletal muscle cell differentiation Any process that activates or increases the frequency, rate or extent of skeletal muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl yaf 2011-08-11T08:54:44Z biological_process owl:Class HP:0025391 biolink:NamedThing Crazy paving pattern The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia. tmpxe7fu0cj_hp_relaxed.owl Crazy paving pattern on pulmonary HRCT|Crazy-paving pattern 2017-04-22 12:57:46+00:00 See Figure 20 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. HPO:probinson HP:0033659 owl:Class HP:0010281 biolink:NamedThing Cleft lower lip A gap in the lower lip. tmpxe7fu0cj_hp_relaxed.owl Lower labial cleft|Cleft of the lower lip|Cleft lower lip UMLS:C1856026 peter 2009-07-12T09:50:34Z human_phenotype owl:Class CHEBI:35605 biolink:NamedThing carbon oxoacid tmpxe7fu0cj_hp_relaxed.owl carbon oxoacids|oxoacids of carbon chebi_ontology owl:Class CHEBI:24833 biolink:NamedThing oxoacid A compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). tmpxe7fu0cj_hp_relaxed.owl oxiacids|oxacids|oxy-acids|oxo acid|oxoacid|oxoacids|oxyacids chebi_ontology owl:Class HP:0008360 biolink:NamedThing Neonatal hypoproteinemia A neonatal decreased concentration of proteins in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024691 human_phenotype owl:Class HP:0003075 biolink:NamedThing Hypoproteinemia A decreased concentration of protein in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased protein levels in blood MSH:D007019|SNOMEDCT_US:8900005|UMLS:C0020639 owl:Class HP:0008653 biolink:NamedThing Crescentic glomerulonephritis A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:236398000|UMLS:C0403416 human_phenotype owl:Class HP:0004524 biolink:NamedThing Temporal hypotrichosis Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull). tmpxe7fu0cj_hp_relaxed.owl Reduced hair growth in temporal region UMLS:C4025316 human_phenotype owl:Class HP:0031659 biolink:NamedThing Fourth heart sound The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction. tmpxe7fu0cj_hp_relaxed.owl S4|Atrial gallop|Presystolic gallop 2017-12-17 16:03:22+00:00 S4 occurs in late diastole, is associated with atrial contraction, and coincides with the P wave on the EKG. peter owl:Class GO:2001204 biolink:NamedThing regulation of osteoclast development Any process that modulates the frequency, rate or extent of osteoclast development. tmpxe7fu0cj_hp_relaxed.owl regulation of osteoclast cell development yaf 2011-11-10T10:58:59Z biological_process owl:Class HP:0010128 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the hallux The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the innermost bone of big toe UMLS:C4024031 doelkens 2009-05-29T01:22:23Z human_phenotype owl:Class GO:0006817 biolink:NamedThing phosphate ion transport The directed movement of phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl phosphate transport biological_process owl:Class HP:0020096 biolink:NamedThing Recurrent streptococcal infections Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 17:59:21+00:00 robinp owl:Class HP:0030594 biolink:NamedThing Abnormal automated kinetic perimetry test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073066 owl:Class HP:0004602 biolink:NamedThing Cervical C2/C3 vertebral fusion Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. tmpxe7fu0cj_hp_relaxed.owl Fusion of cervical vertebrae c2-3|Klippel-Feil syndrome|Klippel-Feil anomaly UMLS:C0022738|SNOMEDCT_US:5601008|SNOMEDCT_US:388981000|MSH:D007714 HP:0004636 owl:Class PATO:0000328 biolink:NamedThing low saturation A color saturation which is of low purity. tmpxe7fu0cj_hp_relaxed.owl pale|dull quality owl:Class PATO:0000017 biolink:NamedThing color saturation A scalar chromatic property that is the degree of purity of perceived light. tmpxe7fu0cj_hp_relaxed.owl Color saturation refers to the amount of white light or gray paint mixed in with the hue (single wavelength) and is a measure of color purity. quality owl:Class HP:0030635 biolink:NamedThing Retinal dystrophy with early macular involvement tmpxe7fu0cj_hp_relaxed.owl UMLS:C4049066 owl:Class HP:0003163 biolink:NamedThing Elevated urinary delta-aminolevulinic acid An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. tmpxe7fu0cj_hp_relaxed.owl Elevated urinary delta-aminolevulinic acid UMLS:C1848702 Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis. owl:Class HP:0032733 biolink:NamedThing Focal aware motor seizure with dysarthria/anarthria A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal motor aware seizure with dysarthria/anarthria peter owl:Class MAXO:0010361 biolink:NamedThing cholangiography procedure The radiographic examination of the bile ducts after a contrast medium has been injected. tmpxe7fu0cj_hp_relaxed.owl cholangiographic procedure|biliary tree X-ray procedure|biliary tree radiogram procedure|radiograph of biliary tree|cholangiography|radiography of biliary tree 2020-04-27T20:39:14Z NCIT:C61508 http://orcid.org/0000-0001-7941-2961 owl:Class HP:0004403 biolink:NamedThing Proximal esophageal atresia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025325 peter 2008-03-18T09:17:00Z human_phenotype owl:Class HP:0011989 biolink:NamedThing Ectopic ossification in ligament tissue Formation of abnormal bony tissue within ligament tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023094 peter 2012-07-19T10:48:31Z human_phenotype owl:Class HP:0041051 biolink:NamedThing Ageusia A rare condition that is characterized by a complete loss of taste function of the tongue. tmpxe7fu0cj_hp_relaxed.owl Impaired taste sensation|Absent sense of taste|Lost taste owl:Class GO:0090206 biolink:NamedThing negative regulation of cholesterol metabolic process Any process that decreases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpxe7fu0cj_hp_relaxed.owl tb 2009-12-23T10:27:37Z biological_process owl:Class HP:0000097 biolink:NamedThing Focal segmental glomerulosclerosis Segmental accumulation of scar tissue in individual (but not all) glomeruli. tmpxe7fu0cj_hp_relaxed.owl focal glomerulosclerosis|Focal and segmental glomerular sclerosis|Focal and segmental glomerulosclerosis MSH:D005923|SNOMEDCT_US:236403004|SNOMEDCT_US:25821008|UMLS:C0017668 Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). FSGS is characterized by focal and segmental occurrence of lesions with mesangial sclerosis, obliteration of glomerular capillaries with hyalinosis and intracapillary foam cells, formation of adhesions between the glomerular tuft and Bowman's capsule, and podocyte hypertrophy. FSGS is not a disease entity, but rather a pattern of injury with quite diverse clinical behavior, morphology, and possibly also pathogenesis. HP:0004747 owl:Class PR:000013246 biolink:NamedThing prolactin A somatotropin hormone family member that is a translation product of the human PRL gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl PRL Category=gene. protein owl:Class PR:000029968 biolink:NamedThing somatotropin hormone family member A protein that is a standalone version of the Hormone_1 domain (Pfam:PF00103). In the immature form, the domain is preceded by a signal peptide. tmpxe7fu0cj_hp_relaxed.owl fam:GH1 Category=family. protein owl:Class HP:0010889 biolink:NamedThing Morbus Kienboeck Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum. tmpxe7fu0cj_hp_relaxed.owl Lunatomalacia|Kienboeck's disease|Kienböck's disease SNOMEDCT_US:360466009|UMLS:C0022682|MSH:D010020|SNOMEDCT_US:84062004|SNOMEDCT_US:367356000 Results most often from a stress-fracture and consecutive devascularisation of the Os lunatum. sdoelken 2010-09-25T11:04:19Z human_phenotype owl:Class HP:0025629 biolink:NamedThing Anti-myelin-associated glycoprotein antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG). tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 00:48:21+00:00 The anti-myelin-associated glycoprotein (MAG) neuropathy is an antibody-mediated demyelinating neuropathy. The clinical picture is characterized by a distal and symmetric, mostly sensory neuropathy. Monoclonal immunoglobulin M anti-MAG antibodies are uniquely found in this condition and are believed to be pathogenic. HPO:probinson owl:Class HP:0032923 biolink:NamedThing Focal impaired awareness vocal automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0031227 biolink:NamedThing Nasopharyngeal teratoma A teratoma arising in the nasopharyngeal region. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 12:40:40+00:00 Nasopharyngeal teratoma is histologically benign, but can cause considerable morbidity and mortality because of the location. Nasopharyngeal teratoma represents one of the most unusual causes of respiratory distress during the neonatal period. peter owl:Class HP:0030308 biolink:NamedThing Flared distal tibial metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia. tmpxe7fu0cj_hp_relaxed.owl Flared outermost metaphysis of shinbone|Flared outermost metaphysis of shankbone UMLS:C4022519 owl:Class HP:4000025 biolink:NamedThing Anti-integrin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 14:41:03+00:00 robinp owl:Class HP:0000619 biolink:NamedThing Impaired convergence Reduced ability to turn the eyes inward in order to focus on a nearby object. tmpxe7fu0cj_hp_relaxed.owl Convergence insufficiency UMLS:C0271379|MSH:D015835|SNOMEDCT_US:194131002 Vergence alters the angle between the two eyes to adjust for changes in distance from the visual target. human_phenotype owl:Class HP:0002612 biolink:NamedThing Congenital hepatic fibrosis The presence of fibrosis of that part of the liver with congenital onset. tmpxe7fu0cj_hp_relaxed.owl Congenital liver fibrosis|Excessive buildup of connective tissue and scarring of liver at birth SNOMEDCT_US:79607001|UMLS:C0009714|MSH:C562378 Congenital hepatic fibrosis is characterized by enlarged portal tracts with extensive fibrosis and numerous bile ductules that communicate with the bile tree. The affected area tends to be sharply demarcated from normal liver parenchyma and does not display regenerative nodules (which distinguished the condition from cirrhosis). owl:Class HP:0001395 biolink:NamedThing Hepatic fibrosis The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. tmpxe7fu0cj_hp_relaxed.owl Liver fibrosis SNOMEDCT_US:62484002|UMLS:C0239946|MSH:D008103 owl:Class HP:0020209 biolink:NamedThing Hot water-induced seizure A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger. tmpxe7fu0cj_hp_relaxed.owl robinp 2020-02-24 13:40:34+00:00 owl:Class HP:0410292 biolink:NamedThing Abnormal isohemagglutinin level An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). tmpxe7fu0cj_hp_relaxed.owl Abnormal level of natural antibody to blood group agents|Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin) 2019-01-28 21:28:37+00:00 owl:Class HP:0001929 biolink:NamedThing Reduced factor XI activity Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX. tmpxe7fu0cj_hp_relaxed.owl Factor XI deficiency|Low factor XI activity MSH:D005173|UMLS:C0015523|SNOMEDCT_US:49762007 human_phenotype owl:Class HP:0010620 biolink:NamedThing Malar prominence Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. tmpxe7fu0cj_hp_relaxed.owl Prominent malar region|Malar excess|Hyperplasia of malar bones|Malar hyperplasia UMLS:C4280374|UMLS:C1858732 Increased prominence of the malar region (cheeks), as manifested by anterior positioning of the infraorbital and perialar regions or increased convexity of the face or increased naso-labial angle. peter 2009-11-02T07:53:02Z HP:0000310 human_phenotype owl:Class GO:0000323 biolink:NamedThing lytic vacuole A vacuole that is maintained at an acidic pH and which contains degradative enzymes, including a wide variety of acid hydrolases. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class UBERON:0006923 biolink:NamedThing vagina squamous epithelium A squamous epithelium that is part of a vagina. tmpxe7fu0cj_hp_relaxed.owl vaginal squamous epithelium UMLS:C1711259|MA:0001731|NCIT:C49314|EMAPA:37794 uberon owl:Class GO:0086017 biolink:NamedThing Purkinje myocyte action potential An action potential that occurs in a Purkinje myocyte. tmpxe7fu0cj_hp_relaxed.owl tb 2011-11-10T08:58:56Z biological_process owl:Class HP:0025477 biolink:NamedThing Periarticular calcification Calcified deposits in soft tissue structures outside a joint. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 13:23:02+00:00 HPO:probinson owl:Class HP:0005583 biolink:NamedThing Tubular basement membrane disintegration DIsruption and breaking up of the basement membrane of the tubules of the kidney. tmpxe7fu0cj_hp_relaxed.owl Disintegration of the tubular basement membrane UMLS:C1968618 Throughout the rest of the nephron, tubule epithelial cells are attached to the tubular basement membrane that overlies the subjacent interstitial connective tissue. The disruption of cell-basement membrane adhesion results in loss of cell orientation, abnormal cell function, and can lead to tissue destruction. HP:0005577 owl:Class UBERON:0015280 biolink:NamedThing pancreas left lobe A pancreatic lobule that is in_the_left_side_of a exocrine pancreas. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37711|MA:0000722 uberon owl:Class HP:0002475 biolink:NamedThing Myelomeningocele Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl Meningomyelocele|Spina bifida cystica MSH:D008591|SNOMEDCT_US:414667000|Fyler:4309|SNOMEDCT_US:203994003|UMLS:C0025312 Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits. owl:Class HP:0001976 biolink:NamedThing Reduced antithrombin III activity An abnormality of coagulation related to a decreased concentration of antithrombin-III. tmpxe7fu0cj_hp_relaxed.owl Anti-thrombin III deficiency|Decreased antithrombin III|Antithrombin III deficiency UMLS:C0272375|SNOMEDCT_US:36351005|MSH:D020152 Antithrombin III (ATIII) inhibits the coagulation cascade by lysing thrombin and factor Xa. The defective inhibition of the coagulation cascade is associated with an increased risk of venous and arterial thrombosis. The physiological target proteases of antithrombin are those of the intrinsic pathway, namely the activated forms of Factor X, Factor IX, Factor XI, Factor XII, and, to a greater extent, Factor II (thrombin), and also the activated form of Factor VII (VIIa) from the the extrinsic pathway. human_phenotype owl:Class HP:0025693 biolink:NamedThing Pituitary macroadenoma A pituitary gland adenoma that is larger than 10mm. tmpxe7fu0cj_hp_relaxed.owl Pituitary gland macroadenoma Pituitary macroadenoma presents with mass effects and potentially hormonal deficiency or hormonal excess. peterrobinson owl:Class HP:0006226 biolink:NamedThing Osteoarthritis of the first carpometacarpal joint tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:37895003|UMLS:C0409956 human_phenotype owl:Class UBERON:0014613 biolink:NamedThing cervical spinal cord gray matter A gray matter of spinal cord that is part of a cervical spinal cord. tmpxe7fu0cj_hp_relaxed.owl cervical spinal cord gray matter UMLS:C0228610|SCTID:362438009|BIRNLEX:1521 uberon owl:Class GO:1905905 biolink:NamedThing pharyngeal gland morphogenesis The developmental process by which a pharyngeal gland is generated and organized. tmpxe7fu0cj_hp_relaxed.owl pharynx gland morphogenesis|glandulae pharyngeae morphogenesis rz 2017-02-03T14:39:10Z biological_process owl:Class UBERON:0009640 biolink:NamedThing hypophyseal cartilage Forms around the developing pituitary, and together with prechordal cartilages creates body of sphenoid bone. tmpxe7fu0cj_hp_relaxed.owl classified as part of chondrocranium based on developmental relationships uberon owl:Class CHEBI:61469 biolink:NamedThing polyanionic polymer A polymer, composed of polyanion macromolecules. tmpxe7fu0cj_hp_relaxed.owl polyanions|polyanion chebi_ontology owl:Class HP:0032935 biolink:NamedThing Posterior crocodile shagreen of the cornea Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0009338 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 3rd finger Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the outermost bone of the 3rd finger UMLS:C4024429 doelkens 2009-01-12T11:18:33Z human_phenotype owl:Class HP:0010249 biolink:NamedThing Enlarged epiphyses of the distal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the outermost hand bones UMLS:C4023950 doelkens 2009-07-06T04:23:06Z human_phenotype owl:Class PATO:0000404 biolink:NamedThing coiled A shape quality inhering in a bearer by virtue of the bearer's being curled or wound (especially in concentric rings or spirals). tmpxe7fu0cj_hp_relaxed.owl spiral|helicoid|helix-shaped|helical|helicoidal PATO:0001363 quality owl:Class HP:0030360 biolink:NamedThing Large cell lung carcinoma A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0345958|SNOMEDCT_US:254629004 owl:Class GO:1905608 biolink:NamedThing positive regulation of presynapse assembly Any process that activates or increases the frequency, rate or extent of presynapse assembly. tmpxe7fu0cj_hp_relaxed.owl upregulation of presynapse assembly|upregulation of presynapse biogenesis|up-regulation of presynapse assembly|activation of presynaptic terminal assembly|up-regulation of presynapse biogenesis|up regulation of presynaptic terminal assembly|up regulation of presynapse assembly|positive regulation of presynapse biogenesis|upregulation of presynaptic terminal assembly|up-regulation of presynaptic terminal assembly|activation of presynapse biogenesis|positive regulation of presynaptic terminal assembly|up regulation of presynapse biogenesis|activation of presynapse assembly bc 2016-10-27T16:08:28Z biological_process owl:Class HP:0025691 biolink:NamedThing Impaired fasting glucose Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class CHEBI:24995 biolink:NamedThing lactam Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. tmpxe7fu0cj_hp_relaxed.owl lactams|lactam|Laktam|Laktame chebi_ontology owl:Class CHEBI:23443 biolink:NamedThing cyclic amide tmpxe7fu0cj_hp_relaxed.owl cyclic amides|cyclic amide CHEBI:3990 chebi_ontology owl:Class HGNC:4057 biolink:NamedThing G6PD (human) A protein coding gene G6PD in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class HP:0007107 biolink:NamedThing Segmental peripheral demyelination A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024938 human_phenotype owl:Class CHEBI:16737 biolink:NamedThing creatinine A lactam obtained by formal cyclocondensation of creatine. It is a metabolite of creatine. tmpxe7fu0cj_hp_relaxed.owl Creatine anhydride|2-amino-1,5-dihydro-1-methyl-4H-Imidazol-4-one|Kreatinin|1-methylglycocyamidine|2-Amino-1-methylimidazolin-4-one|2-imino-1-methylimidazolidin-4-one|Creatinine|1-Methylglycocyamidine|creatinina|creatinine|1-Methylhydantoin-2-imide 0 C4H7N3O InChI=1S/C4H7N3O/c1-7-2-3(8)6-4(7)5/h2H2,1H3,(H2,5,6,8) DDRJAANPRJIHGJ-UHFFFAOYSA-N 113.11800 113.05891 CN1CC(=O)NC1=N PMID:18182718|Reaxys:112064|PMID:22390548|PMID:21775764|KEGG:C00791|PMID:22223530|PMID:17422601|PMID:11256540|PMID:22459582|PMID:22121923|PMID:22166252|CAS:60-27-5|MetaCyc:CREATININE|PMID:19236048|HMDB:HMDB0000562|PMID:22498455|PMID:19968328|PMID:22338083|PMID:22212624|PMID:22207347|Wikipedia:Creatinine|KEGG:D03600|PMID:22047975|PMID:22349552|PMID:22331238|PMID:19715855|PMID:17190852|PMID:22441184|PMID:11981083|PMID:22432114 CHEBI:3910|CHEBI:23406|CHEBI:14029 chebi_ontology owl:Class HP:0500209 biolink:NamedThing Abnormal CSF methionine concentration Any deviation from the normal concentration of methionine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal methionine levels in cerebrospinal fluid 2019-02-25 18:58:00+00:00 owl:Class HP:0000823 biolink:NamedThing Delayed puberty Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. tmpxe7fu0cj_hp_relaxed.owl Delayed pubertal development|Pubertal delay|Delayed pubertal growth|Delayed puberty SNOMEDCT_US:400003000|SNOMEDCT_US:123526007|MSH:D011628|UMLS:C0034012 The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy. HP:0010466|HP:0008859|HP:0010467 owl:Class CHEBI:60895 biolink:NamedThing D-alpha-amino acid anion Any alpha-amino acid anion in which the parent amino acid has D-configuration. tmpxe7fu0cj_hp_relaxed.owl D-alpha-amino carboxylate|D-alpha-amino acid anions -1 C2H3NO2R 73.051 73.01638 [C@@H](C(=O)[O-])(N)* chebi_ontology owl:Class HP:0040272 biolink:NamedThing Hyperintensity of MRI T2 signal of the spinal cord A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280684 Seen in a wide-ranging variety of spinal cord processes including; simple MR artefacts, congenital anomalies etc. Characterization of the abnormal areas of T2 signal as well as their appearance on other MR imaging sequences, when combined with clinical context and laboratory investigations, will often allow a unique diagnosis, or at least aid in narrowing the differential diagnosis. owl:Class HP:0034140 biolink:NamedThing Anti-SUMO-activating enzyme subunit 1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 13:33:06+00:00 peter owl:Class HP:0034139 biolink:NamedThing Anti-SUMO-activating enzyme antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE. tmpxe7fu0cj_hp_relaxed.owl Anti-SAE antibody positivity|Anti-small ubiquitin-like modifier-1 activating enzyme antibody positivity 2021-12-23 13:30:56+00:00 peter owl:Class HP:0030297 biolink:NamedThing Metaphyseal chondromatosis of ulna tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022528 owl:Class UBERON:0011964 biolink:NamedThing calcaneocuboid joint Calcaneocuboid Articulation (articulation of the calcaneus with the cuboid). The ligaments connecting the calcaneus with the cuboid are five in number, viz. , the articular capsule, the dorsal calcaneocuboid, part of the bifurcated, the long plantar, and the plantar calcaneocuboid. tmpxe7fu0cj_hp_relaxed.owl calcaneocuboidal joint|calcaneocuboid articulation|articulatio calcaneocubiodea FMA:35207 uberon owl:Class HP:0031338 biolink:NamedThing Abnormal cardiomyocyte plakoglobin staining Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 13:39:34+00:00 peter owl:Class GO:0016053 biolink:NamedThing organic acid biosynthetic process The chemical reactions and pathways resulting in the formation of organic acids, any acidic compound containing carbon in covalent linkage. tmpxe7fu0cj_hp_relaxed.owl organic acid anabolism|organic acid synthesis|organic acid formation|organic acid biosynthesis biological_process owl:Class UBERON:0001889 biolink:NamedThing trunk of phrenic nerve tmpxe7fu0cj_hp_relaxed.owl phrenic neural trunk|phrenic nerve trunk EHDAA2:0001463|FMA:6198|MA:0001177|EMAPA:37718 uberon owl:Class HP:0032175 biolink:NamedThing Signet ring sign This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging. tmpxe7fu0cj_hp_relaxed.owl 2019-01-06 11:17:24+00:00 See Fig 66 of PMID:18195376. peter owl:Class GO:0050953 biolink:NamedThing sensory perception of light stimulus The series of events required for an organism to receive a sensory light stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0014670 biolink:NamedThing distal interphalangeal joint of manual digit 4 tmpxe7fu0cj_hp_relaxed.owl distal interphalangeal joint of ring finger|distal interphalangeal joint of manual digit IV FMA:35340 uberon owl:Class UBERON:0007731 biolink:NamedThing interphalangeal joint of manual digit 4 An interphalangeal joint of manus that is part of a manual digit 4. tmpxe7fu0cj_hp_relaxed.owl interphalangeal joint of fourth finger|interphalangeal joint of ring finger|interphalangeal joint of fourth digit of hand|interphalangeal joint of manual digit IV FMA:35403|EMAPA:25067 uberon owl:Class HP:0002380 biolink:NamedThing Fasciculations Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. tmpxe7fu0cj_hp_relaxed.owl Muscle twitch|Muscle fasciculation|Fasciculation MSH:D005207|SNOMEDCT_US:82470000|UMLS:C0015644 This finding can be visible clinically and can be demonstrated by electromyography (EMG). HP:0007092|HP:0002468 human_phenotype owl:Class HP:0500147 biolink:NamedThing Hypoglutaminemia Decreased amount of glutamine in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood glutamine level|Decreased blood glutamine concentration 2018-10-04 14:11:16+00:00 owl:Class HP:0007902 biolink:NamedThing Vitreous hemorrhage Bleeding within the vitreous compartment of the eye. tmpxe7fu0cj_hp_relaxed.owl Vitreous haemorrhage UMLS:C0042909|MSH:D014823|SNOMEDCT_US:31341008 The most common causes include proliferative diabetic retinopathy, vitreous detachment with or without retinal breaks, and trauma. Less common causes include vascular occlusive disease, retinal arterial macroaneurysm, hemoglobinopathies, age-related macular degeneration, intraocular tumors, and others. human_phenotype owl:Class HP:0041179 biolink:NamedThing Fractured distal phalanx of manual digit 5 A partial or complete breakage of the distal phalanx of manual digit 5. tmpxe7fu0cj_hp_relaxed.owl bone distal phalanx of manual digit 5 owl:Class UBERON:0036013 biolink:NamedThing intergluteal cleft The line that divided the gluteal regions of the body. tmpxe7fu0cj_hp_relaxed.owl intergluteal crease|crena analis|anal cleft|natal cleft|crena interglutealis|crena ani FMA:20234 uberon owl:Class HP:0033174 biolink:NamedThing Bloody bronchoalveolar lavage fluid Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding. tmpxe7fu0cj_hp_relaxed.owl 2020-09-24 10:47:02+00:00 peter owl:Class HP:0100617 biolink:NamedThing Testicular seminoma The presence of a seminoma, an undifferentiated germ cell tumor of the testis. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:443675005|MSH:D018239|SNOMEDCT_US:255107005|SNOMEDCT_US:36741007|UMLS:C0036631|NCIT:C9309 doelkens 2010-12-28T11:42:18Z human_phenotype owl:Class HP:0000952 biolink:NamedThing Jaundice Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. tmpxe7fu0cj_hp_relaxed.owl Yellow skin|Jaundice|Icterus|Yellowing of the skin SNOMEDCT_US:18165001|MSH:D007565|UMLS:C0022346 human_phenotype owl:Class HP:0030447 biolink:NamedThing Merkel cell skin cancer A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features. tmpxe7fu0cj_hp_relaxed.owl Cutaneous APUDoma|Neuroendocrine tumour of the skin|Primary small cell carcinoma of the skin|Merkel cell cancer of the skin|Neuroendocrine tumor of the skin|Primary undifferentiated carcinoma of the skin|Anaplastic carcinoma of the skin|Neuroendocrine carcinoma of the skin SNOMEDCT_US:253001006|UMLS:C0007129|MSH:D015266|SNOMEDCT_US:254729005|SNOMEDCT_US:5052009 owl:Class HP:0001663 biolink:NamedThing Ventricular fibrillation Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:71908006|UMLS:C0042510|MSH:D014693 HP:0005166 human_phenotype owl:Class PATO:0000387 biolink:NamedThing soft A hardness quality of giving little resistance to pressure. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0030433 biolink:NamedThing Osteoid osteoma A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone. tmpxe7fu0cj_hp_relaxed.owl MSH:D010017|SNOMEDCT_US:71666005|UMLS:C0029441|SNOMEDCT_US:302859004 owl:Class HP:0012052 biolink:NamedThing Low serum calcitriol A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. tmpxe7fu0cj_hp_relaxed.owl Low serum 1,25-dihydroxyvitamin D3|Low serum 1,25-dihydroxycholecalciferol UMLS:C4023065 peter 2012-08-01T01:02:39Z human_phenotype owl:Class PATO:0002051 biolink:NamedThing increased occurrence An occurrence which is relatively high. tmpxe7fu0cj_hp_relaxed.owl increased incidence 2009-03-26T11:10:11Z quality owl:Class UBERON:0017717 biolink:NamedThing hypothenar eminence Hypothenar refers to a group of three muscles of the palm that control the motion of the little finger. The three muscles are: Abductor digiti minimi Flexor digiti minimi Opponens digiti minimi. tmpxe7fu0cj_hp_relaxed.owl hypothenar part of palm FMA:61523 uberon owl:Class HP:0032423 biolink:NamedThing Decreased HDL2b concentration A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:46:25+00:00 peter owl:Class UBERON:0015843 biolink:NamedThing molar enamel organ tmpxe7fu0cj_hp_relaxed.owl EMAPA:32880|MA:0003228 uberon owl:Class HP:0006213 biolink:NamedThing Thin proximal phalanges with broad epiphyses of the hand tmpxe7fu0cj_hp_relaxed.owl Thin innermost bone with broad end part of the hand bone|Thin proximal phalanges with broad epiphyses UMLS:C1862156|UMLS:C4025079 removed the logical def: 'has part' some (('decreased thickness' and ('inheres in' some 'proximal phalanx of manus') and ('has modifier' some abnormal)) and ('has part' some ('increased width' and ('inheres in' some 'epiphysis of proximal phalanx of manus'))) and ('has modifier' some abnormal)) human_phenotype owl:Class HP:0031656 biolink:NamedThing Systolic anterior motion of the mitral valve Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 15:49:49+00:00 peter owl:Class HP:0010747 biolink:NamedThing Medial flaring of the eyebrow An abnormal distribution of eyebrow hair growth in the medial direction. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844562 sdoelken 2010-04-23T09:29:58Z human_phenotype owl:Class MAXO:0010212 biolink:NamedThing spleen ultrasonography The use of ultrasound to produce images of structures in the spleen. tmpxe7fu0cj_hp_relaxed.owl spleen ultrasound examination|spleen sonography|spleen ultrasound procedure|spleen medical ultrasound|ultrasonography of spleen|spleen ultrasound imaging procedure|sonography of spleen|spleen diagnostic sonography 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-2994 owl:Class HP:0012346 biolink:NamedThing Abnormal protein glycosylation An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022945 peter 2013-09-15T09:09:40Z human_phenotype owl:Class UBERON:0029503 biolink:NamedThing sacral spinal cord gray matter tmpxe7fu0cj_hp_relaxed.owl sacral spinal cord gray matter BIRNLEX:1491 uberon owl:Class HP:0034097 biolink:NamedThing Anti-phosphatidyl choline antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 14:55:16+00:00 peter owl:Class HP:0001049 biolink:NamedThing Absent dorsal skin creases over affected joints tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861400 human_phenotype owl:Class HP:0006143 biolink:NamedThing Abnormal finger flexion creases tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859481 human_phenotype owl:Class HP:0025713 biolink:NamedThing Neurite dystrophy Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins. tmpxe7fu0cj_hp_relaxed.owl Dystrophic neurite Dystrophic neurites occur around neuritic plaques in the brains of subjects with Alzheimer's disease and various other neurological conditions. peterrobinson owl:Class HP:0031508 biolink:NamedThing Abnormal thyroid hormone level Any deviation from the normal range of the hormones produced by the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl 2017-09-21 01:56:23+00:00 Thyroid hormones (TH) are involved in the regulation of metabolism, proliferation, and growth of most tissues. Serum TH levels are tightly controlled by the hypothalamic, pituitary, and thyroid (HPT) axis to deliver appropriate amounts of TH to target tissues. The two major THs (T3 and T4) are iodothyrosines synthesized by the thyroid gland under the control of thyrotropin/thyroid stimulating hormone (TSH), a glycoprotein heterodimer that is produced by the pituitary gland. TSH, in turn, is regulated by thyrotropin releasing hormone (TRH), a tripeptide generated by the hypothalamus that is released into its own portal system to reach the pituitary. Both the production of TRH and TSH are under negative feedback control determined by the circulating free TH concentrations. peter owl:Class HP:0000636 biolink:NamedThing Upper eyelid coloboma A short discontinuity of the margin of the upper eyelid. tmpxe7fu0cj_hp_relaxed.owl Notched upper eyelid|Coloboma of the upper eyelid|Full thickness defect of the upper eyelid|Upper eyelid colobomas|Cleft upper eyelid UMLS:C1863872 human_phenotype owl:Class HP:0031868 biolink:NamedThing Optic ataxia Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected. tmpxe7fu0cj_hp_relaxed.owl 2018-05-06 13:12:07+00:00 Optic ataxia is related to a cortical neurologic deficit that is a result of a lesion to the superior parietal lobule (SPL) and areas around the intraparietal sulcus (IPS). The phenomenon is thought not to be an apraxia (a disorder in executing learned behaviors), but rather a lack of coordination between visual input and motor outputs, and thus the term ataxia, Greek for Lack of Order. peter owl:Class HP:0030502 biolink:NamedThing Retinoschisis Splitting of the neuroretinal layers of the retina. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0152439|SNOMEDCT_US:44268007|MSH:D041441 owl:Class GO:1902262 biolink:NamedThing apoptotic process involved in blood vessel morphogenesis Any apoptotic process that is involved in blood vessel morphogenesis. tmpxe7fu0cj_hp_relaxed.owl signaling (initiator) caspase activity involved in patterning of blood vessels|apoptotic cell death involved in patterning of blood vessels|apoptotic programmed cell death involved in patterning of blood vessels|apoptosis involved in patterning of blood vessels|programmed cell death by apoptosis involved in patterning of blood vessels|type I programmed cell death involved in patterning of blood vessels|apoptotic program involved in patterning of blood vessels dph 2013-06-25T16:16:00Z biological_process owl:Class UBERON:0005276 biolink:NamedThing dorsal skin of finger A dorsal skin of digit that is part of a manual digit. tmpxe7fu0cj_hp_relaxed.owl subdivision of skin of dorsal part of finger|skin of dorsal part of finger|dorsal finger skin FMA:60346|FMA:38320 uberon owl:Class this class is explicitly the union of the two FMA classes UBERON:0001201 biolink:NamedThing serosa of stomach The outermost layer of the stomach wall, consisting of layers of connective tissue continuous with the peritoneum. tmpxe7fu0cj_hp_relaxed.owl serosa of anatomical wall of ventriculus|anatomical wall of ventriculus serosa|ventriculus wall serosa|serosa of stomach anatomical wall|gastric serosa|serous membrane of anatomical wall of ventriculus|tunica serosa gastricae|serous membrane of wall of stomach|wall of stomach serous membrane|anatomical wall of stomach serosa|stomach anatomical wall serous membrane|serous membrane of anatomical wall of stomach|stomach wall serosa|serous coat of stomach|serosa of anatomical wall of stomach|serosa of stomach wall|visceral peritoneum of stomach|serosa of gastric wall|wall of stomach serosa|ventriculus anatomical wall serosa|serous membrane of gastric wall|serosa of wall of ventriculus|serous membrane of stomach wall|wall of ventriculus serous membrane|serous membrane of ventriculus anatomical wall|gastric wall serous membrane|serosa of ventriculus anatomical wall|ventriculus wall serous membrane|serous membrane of ventriculus wall|stomach serosa|serosa of wall of stomach|wall of ventriculus serosa|anatomical wall of ventriculus serous membrane|tunica serosa (gaster)|serous membrane of wall of ventriculus|anatomical wall of stomach serous membrane|gastric wall serosa|ventriculus anatomical wall serous membrane|serosa of ventriculus wall|stomach wall serous membrane|stomach anatomical wall serosa|serous membrane of stomach anatomical wall SCTID:1353004|UMLS:C1517453|FMA:14914|MA:0001626|NCIT:C32662|EMAPA:35822 TODO - check serosa/peritoneum uberon owl:Class GO:0051081 biolink:NamedThing nuclear membrane disassembly The controlled breakdown of the nuclear membranes, for example during cellular division. tmpxe7fu0cj_hp_relaxed.owl nuclear envelope disassembly|nuclear envelope degradation|nuclear envelope catabolism|nuclear envelope breakdown biological_process owl:Class HP:0100212 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the outermost bone of the pinkie toe|Triangular end part of the outermost bone of the pinky toe|Triangular end part of the outermost bone of the little toe UMLS:C4022209 doelkens 2010-06-24T05:03:31Z human_phenotype owl:Class HP:0006524 biolink:NamedThing Tracheobronchial leiomyomatosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C3806786 human_phenotype owl:Class HP:0034142 biolink:NamedThing Anti-nuclear matrix protein-2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2. tmpxe7fu0cj_hp_relaxed.owl Anti-NXP-2 antibody positivity|Anti-MJ/NXP-2 antibody positivity 2021-12-23 13:36:09+00:00 peter owl:Class HP:0033838 biolink:NamedThing Dysphoria A state of feeling very unhappy, uneasy, or dissatisfied. tmpxe7fu0cj_hp_relaxed.owl 2021-05-21 17:48:02+00:00 peter owl:Class HP:0012237 biolink:NamedThing Urocanic aciduria An increased concentration of urocanic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine urocanic acid levels SNOMEDCT_US:60952007|MSH:C536479|UMLS:C0268514 peter 2013-03-31T09:54:48Z human_phenotype owl:Class UBERON:0007997 biolink:NamedThing sesamoid bone of manus A sesamoid bone that is part of a manus. tmpxe7fu0cj_hp_relaxed.owl sesamoid bone of hand FMA:42353 uberon owl:Class HP:0030121 biolink:NamedThing Reduced muscle fiber calpain-3 Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue. tmpxe7fu0cj_hp_relaxed.owl Reduced muscle fibre calpain-3 UMLS:C4022624 owl:Class HP:0010929 biolink:NamedThing Abnormal blood cation concentration An abnormality of cation homeostasis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cation homeostasis UMLS:C4023646 peter 2011-01-06T10:36:04Z human_phenotype owl:Class CHEBI:77969 biolink:NamedThing food humectant A humectant that is used as a food additive to prevent foodstuffs from drying out. tmpxe7fu0cj_hp_relaxed.owl food humectants chebi_ontology owl:Class HP:0010292 biolink:NamedThing Absent uvula Lack of the uvula. tmpxe7fu0cj_hp_relaxed.owl Absent palatine uvula|Congenital absence of uvula|Uvula aplasia|Agenesis of uvula|Missing uvula SNOMEDCT_US:25148007|UMLS:C0266121 Sometimes accompanies a Submucous cleft palate, but this should be coded separately. peter 2009-07-12T11:36:21Z owl:Class HP:0025139 biolink:NamedThing Increased serum estrone An elevation above normal limits of the concentration of estrone in the circulation. tmpxe7fu0cj_hp_relaxed.owl 2016-11-27 14:15:18+00:00 HPO:probinson owl:Class UBERON:0015148 biolink:NamedThing tail hair A strand of hair that is part of a tail. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37971 uberon owl:Class HP:0041185 biolink:NamedThing Fractured middle phalanx of manual digit 5 A partial or complete breakage of the middle phalanx of manual digit 5. tmpxe7fu0cj_hp_relaxed.owl bone middle phalanx of manual digit 5 owl:Class HP:0100709 biolink:NamedThing Reduction of oligodendroglia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021852 doelkens 2011-04-03T02:39:50Z human_phenotype owl:Class HP:0410053 biolink:NamedThing Elevated circulating gamma-aminobutyric acid concentration An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased circulating GABA concentration|Increased level of GABA in serum|Increased level of gamma-aminobutyric acid in serum 2018-01-27 01:56:05+00:00 Gamma-aminobutyric acid (GABA) is the primary inhibitory neurotransmitter known to counterbalance the action of the excitatory neurotransmitter glutamate. ORCID:0000-0001-5208-3432 HP:0032529 owl:Class HP:0034025 biolink:NamedThing Abnormal circulating GABA concentration Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2021-09-04 15:32:30+00:00 peter owl:Class GO:0021566 biolink:NamedThing hypoglossal nerve development The process whose specific outcome is the progression of the hypoglossal nerve over time, from its formation to the mature structure. This motor nerve innervates all the intrinsic and all but one of the extrinsic muscles of the tongue. tmpxe7fu0cj_hp_relaxed.owl cranial nerve XII development|CN XII development|cranial nerve 12 development biological_process owl:Class HP:0012246 biolink:NamedThing Oculomotor nerve palsy Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve). tmpxe7fu0cj_hp_relaxed.owl Oculomotor neuropathy MSH:D015840|SNOMEDCT_US:388980004|UMLS:C0028866 peter 2013-04-02T07:15:18Z human_phenotype owl:Class HP:0002878 biolink:NamedThing Respiratory failure A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. tmpxe7fu0cj_hp_relaxed.owl Respiratory failure UMLS:C1145670|MSH:D012131|SNOMEDCT_US:409622000 Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg). HP:0004877 human_phenotype owl:Class UBERON:0002527 biolink:NamedThing pancreatic lymph node A lymph node that is part of a pancreas [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pyloric lymph node|pancreatic node|aJCC level 19 node|lymph node of pancreas|pancreas lymph node FMA:16626|MA:0002881|UMLS:C0229783|NCIT:C77642 uberon owl:Class HP:0003785 biolink:NamedThing Decreased CSF homovanillic acid Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280803 human_phenotype owl:Class HP:0011323 biolink:NamedThing Cleft of chin Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin. tmpxe7fu0cj_hp_relaxed.owl Midline defect of chin|Cleft of chin UMLS:C1849227 peter 2012-02-25T05:17:03Z human_phenotype owl:Class HP:0025278 biolink:NamedThing Cold-induced sweating Sweating provoked by cold temperature rather than by heat. tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 15:16:15+00:00 HPO:probinson owl:Class UBERON:5006049 biolink:NamedThing digit 2 plus metapodial segment A subdivision of the autopod consisting of digit 2 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl digit II plus metapodial segment|digit 2 digitopodial subdivision|digit 2|digit 2 ray|digit 2 ( phalanges plus metapodial) plus soft tissue this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class HP:0007621 biolink:NamedThing Telangiectasia of extensor surfaces tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024827 human_phenotype owl:Class HP:0009995 biolink:NamedThing Partial duplication of the middle phalanx of the 5th finger Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the middle pinky finger bone|Partial duplication of the middle pinkie finger bone|Partial duplication of the middle little finger bone UMLS:C4024123 doelkens 2009-05-26T02:24:47Z human_phenotype owl:Class HP:0011532 biolink:NamedThing Subretinal exudate A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0423431|SNOMEDCT_US:247156002 peter 2012-04-07T09:21:46Z human_phenotype owl:Class UBERON:0005229 biolink:NamedThing lower leg epithelium An epithelium that is part of a lower leg [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl VHOG:0001050|EHDAA2:0001031|EMAPA:17497 uberon owl:Class HP:0033677 biolink:NamedThing Acute respiratory distress syndrome Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300. tmpxe7fu0cj_hp_relaxed.owl ARDS 2021-03-03 20:15:47+00:00 Acute respiratory distress syndrome (ARDS) is a life-threatening condition of seriously ill patients, characterized by poor oxygenation, pulmonary infiltrates, and acuity of onset. On a microscopic level, the disorder is associated with capillary endothelial injury and diffuse alveolar damage. Once ARDS develops, patients usually have varying degrees of pulmonary artery vasoconstriction and may subsequently develop pulmonary hypertension. ARDS carries a high mortality, and few effective therapeutic modalities exist to combat this condition. ARDS can be observed as a complication of many diseases including pulmonary infection or aspiration, sepsis, trauma, massive transfusion, drowning, drug overdose, fat embolism, inhalation of toxic fumes, and pancreatitis. peter owl:Class HP:0030444 biolink:NamedThing Anal margin melanoma A melanoma that originates in the anal margin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072941 owl:Class HP:0030560 biolink:NamedThing Best corrected visual acuity 0.6 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073033 owl:Class PATO:0000125 biolink:NamedThing mass A physical quality that inheres in a bearer by virtue of the proportion of the bearer's amount of matter. tmpxe7fu0cj_hp_relaxed.owl For any biological use of PATO, the concept that should be used is 'mass' and not 'weight'. For example, increased weight of an organism. quality owl:Class UBERON:0010580 biolink:NamedThing pedal digit 1 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a pedal digit 1 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl pedal digit I phalanx pre-cartilage condensation|hind limb digit 1 phalanx pre-cartilage condensation|foot digit 1 phalanx pre-cartilage condensation EHDAA2:0002041|EMAPA:17726 uberon owl:Class HP:0011832 biolink:NamedThing Narrow nasal tip Decrease in width of the nasal tip. tmpxe7fu0cj_hp_relaxed.owl Nasal tip, narrow|Pinched tip of nose|Nasal tip, pinched|Narrow nasal tip|Narrow tip of nose|Thin nasal tip|Pinched nasal tip|Thin tip of nose SNOMEDCT_US:249331008|UMLS:C0426433 Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. peter 2012-05-01T07:39:09Z human_phenotype owl:Class HP:0032167 biolink:NamedThing Clostridium difficile enteritis An infection of the small intestine (enteritis) by clostridium difficile. tmpxe7fu0cj_hp_relaxed.owl C. difficile enteritis 2018-12-09 14:22:48+00:00 Clostridium difficile (C. difficile) is a common nosocomial infection caused by a gram-negative spore forming organism that most commonly leads to pseudomembranous colitis. Certain individuals are able to mount an effective immunoglobulin G response against C. difficile toxin A. This humoral immune response against the C. difficile toxin is believed to allow an individual to become an asymptomatic carrier. In contrast, people who fail to mount an immune response to C. difficile toxin are susceptible to infection. In general, patients on immunosuppressive therapy have a blunted ability to mount immune responses and, therefore, may be at greater risk for infection. peter owl:Class HP:0032166 biolink:NamedThing Unusual gastrointestinal infection tmpxe7fu0cj_hp_relaxed.owl Unusual GI infection 2018-12-09 14:21:56+00:00 peter owl:Class UBERON:0005624 biolink:NamedThing suprarenal artery Artery that supplies blood to the adrenal glands. tmpxe7fu0cj_hp_relaxed.owl adrenal artery NCIT:C33708|EHDAA:8596|EHDAA2:0001965|MA:0001914|EMAPA:37124|ncithesaurus:Adrenal_Artery uberon owl:Class HP:0004660 biolink:NamedThing Hypoplasia of facial musculature Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve). tmpxe7fu0cj_hp_relaxed.owl Deficiency of facial musculature|Underdevelopment of facial muscles|Atrophy of facial musculature|Hypotrophic facial musculature|Small facial muscles|Decreased size of facial muscles UMLS:C1834042|UMLS:C4280509|UMLS:C4280510|UMLS:C4280511 human_phenotype owl:Class HP:0033545 biolink:NamedThing Mesangial fibrillary deposits Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. tmpxe7fu0cj_hp_relaxed.owl 2021-01-21 13:36:19+00:00 peter owl:Class GO:0002322 biolink:NamedThing B cell proliferation involved in immune response The expansion of a B cell population by cell division following B cell activation during an immune response. tmpxe7fu0cj_hp_relaxed.owl B-cell proliferation during immune response|B cell proliferation during immune response|B lymphocyte proliferation during immune response|B-lymphocyte proliferation during immune response biological_process owl:Class GO:1905277 biolink:NamedThing negative regulation of epithelial tube formation Any process that stops, prevents or reduces the frequency, rate or extent of epithelial tube formation. tmpxe7fu0cj_hp_relaxed.owl down regulation of epithelial tube formation|downregulation of epithelial tube formation|inhibition of epithelial tube formation|down-regulation of epithelial tube formation An example of this is MMRN2 in human (Q9H8L6) in PMID:25745997 (inferred from direct assay). bhm 2016-06-20T09:35:49Z biological_process owl:Class GO:1905331 biolink:NamedThing negative regulation of morphogenesis of an epithelium Any process that stops, prevents or reduces the frequency, rate or extent of morphogenesis of an epithelium. tmpxe7fu0cj_hp_relaxed.owl downregulation of epithelium morphogenesis|negative regulation of epithelium morphogenesis|down regulation of morphogenesis of an epithelium|inhibition of epithelium morphogenesis|inhibition of morphogenesis of an epithelium|down regulation of epithelium morphogenesis|down-regulation of morphogenesis of an epithelium|downregulation of morphogenesis of an epithelium|down-regulation of epithelium morphogenesis An example of this is MMRN2 in human (Q9H8L6) in PMID:25745997 (inferred from direct assay). bhm 2016-07-22T07:13:57Z biological_process owl:Class HP:0000927 biolink:NamedThing Abnormality of skeletal maturation The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of skeletal maturation UMLS:C4025818 human_phenotype owl:Class GO:0019249 biolink:NamedThing lactate biosynthetic process The chemical reactions and pathways resulting in the formation of lactate, the anion of lactic acid. tmpxe7fu0cj_hp_relaxed.owl lactate synthesis|lactate anabolism|lactate biosynthesis|lactate formation biological_process owl:Class HP:0031319 biolink:NamedThing Cardiomyocyte hypertrophy An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes. tmpxe7fu0cj_hp_relaxed.owl Myocyte cellular hypertrophy 2017-08-27 11:58:21+00:00 Adult cardiac myocytes are highly specialized, terminally differentiated cells which have lost the ability to divide. The increase in heart muscle mass seen in cardiac hypertrophy occurs predominantly through an increase in myocyte size rather than number. Hypertrophy is the principal response of the heart to overload from any cause, including hypertension, myocardial infarction, valvar heart disease, and dilated cardiomyopathy. peter owl:Class UBERON:0003247 biolink:NamedThing epithelium of forearm An epithelium that is part of a lower arm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl forearm epithelium EHDAA2:0000554|EHDAA:4174|EMAPA:17418|EHDAA:6220|VHOG:0001096 uberon owl:Class UBERON:0006671 biolink:NamedThing orbital fat pad A fat pad that is part of a orbital region. tmpxe7fu0cj_hp_relaxed.owl orbital fat|intraorbital fat pad|retrobulbar fat|orbital fat body EMAPA:19152|FMA:59005 uberon owl:Class GO:0005980 biolink:NamedThing glycogen catabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0100723 biolink:NamedThing Gastrointestinal stroma tumor tmpxe7fu0cj_hp_relaxed.owl Gastrointestinal stromal tumour|Gastrointestinal stromal tumours|Gastrointestinal stromal tumors|GI stroma tumor|GI stroma tumour|Gastrointestinal stromal tumor|Gastrointestinal stroma tumour|GIST MSH:D046152|SNOMEDCT_US:128755003|SNOMEDCT_US:420120006|UMLS:C0238198 doelkens 2011-06-06T02:49:58Z human_phenotype owl:Class UBERON:0010329 biolink:NamedThing paired limb/fin bud mesenchyme Mesenchyme that is part of a limb/fin bud. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:1903771 biolink:NamedThing positive regulation of beta-galactosidase activity Any process that activates or increases the frequency, rate or extent of beta-galactosidase activity. tmpxe7fu0cj_hp_relaxed.owl upregulation of hydrolact|up-regulation of lactose hydrolysis|activation of oryzatym|positive regulation of hydrolact|activation of beta-D-lactosidase activity|upregulation of beta-D-galactoside galactohydrolase activity|positive regulation of beta-lactosidase activity|up regulation of beta-D-lactosidase activity|positive regulation of lactozym|up regulation of beta-D-galactoside galactohydrolase activity|up-regulation of trilactase activity|upregulation of lactozym|upregulation of trilactase activity|up-regulation of lactozym|positive regulation of lactose hydrolysis|up-regulation of S 2107|activation of sumiklat|up regulation of hydrolact|upregulation of beta-lactosidase activity|up regulation of S 2107|positive regulation of trilactase activity|positive regulation of beta-D-galactoside galactohydrolase activity|up-regulation of sumiklat|up regulation of beta-galactosidase activity|activation of lactozym|up regulation of exo-(1->4)-beta-D-galactanase activity|positive regulation of beta-D-galactanase activity|up regulation of beta-lactosidase activity|positive regulation of S 2107|upregulation of beta-D-galactanase activity|upregulation of beta-D-lactosidase activity|activation of S 2107|up-regulation of maxilact|positive regulation of beta-D-lactosidase activity|up-regulation of exo-(1->4)-beta-D-galactanase activity|up-regulation of beta-lactosidase activity|up regulation of lactose hydrolysis|upregulation of lactose hydrolysis|upregulation of exo-(1->4)-beta-D-galactanase activity|activation of beta-D-galactanase activity|up-regulation of hydrolact|upregulation of sumiklat|upregulation of oryzatym|up-regulation of oryzatym|activation of trilactase activity|activation of hydrolact|up regulation of trilactase activity|upregulation of maxilact|up regulation of maxilact|up-regulation of beta-galactosidase activity|activation of beta-galactosidase activity|positive regulation of maxilact|positive regulation of sumiklat|up-regulation of beta-D-lactosidase activity|up regulation of sumiklat|activation of maxilact|up regulation of lactozym|positive regulation of exo-(1->4)-beta-D-galactanase activity|activation of exo-(1->4)-beta-D-galactanase activity|positive regulation of oryzatym|activation of beta-D-galactoside galactohydrolase activity|upregulation of beta-galactosidase activity|up-regulation of beta-D-galactoside galactohydrolase activity|activation of lactose hydrolysis|activation of beta-lactosidase activity|upregulation of S 2107|up-regulation of beta-D-galactanase activity|up regulation of oryzatym|up regulation of beta-D-galactanase activity nc 2015-01-06T10:53:32Z biological_process owl:Class GO:0051345 biolink:NamedThing positive regulation of hydrolase activity Any process that activates or increases the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds. tmpxe7fu0cj_hp_relaxed.owl stimulation of hydrolase activity|up regulation of hydrolase activity|upregulation of hydrolase activity|hydrolase activator|up-regulation of hydrolase activity|activation of hydrolase activity biological_process owl:Class HP:0030869 biolink:NamedThing Anorchism An abnormality of XY sexual development characterized by the absence of both testes at birth. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1261504|MSH:C537770|SNOMEDCT_US:371015003 owl:Class UBERON:0003073 biolink:NamedThing lens placode A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]. tmpxe7fu0cj_hp_relaxed.owl lens placodes|placoda lentis ZFA:0000122|EMAPA:16672|EFO:0003494|UMLS:C1517770|AAO:0011055|NCIT:C34202|EHDAA2:0000982|FMA:296767|TAO:0000122|Wikipedia:Lens_placode|VHOG:0000166|XAO:0000240|EHDAA:2908 http://upload.wikimedia.org/wikipedia/commons/2/2f/Gray864.png uberon owl:Class Ectodermal primordium of the lens of the eye. Kimmel et al, 1995.[TAO] (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The optic cup induces the overlying surface ectoderm first to thicken as a lens placode and then to invaginate and form a lens vesicle that differentiates into the lens.[well established][VHOG] Classical transplantation experiments using amphibian embryos suggested that the optic vesicle is the source of lens-inducing signals sufficient to generate lens tissues in competent ectoderm (reviewed in Grainger et al., 1996). More recent findings suggest a multistep model for lens induction. There is now good evidence that lens specification occurs at the neurula stage, before the optic vesicle contact the surface ectoderm, and that neural crest cell migration in the frontonasal region is required to restrict the position of the lens placode (Bailey et al., 2006) UBERON:0013240 biolink:NamedThing future glans clitoris A future glans that is part of a female genital tubercle. tmpxe7fu0cj_hp_relaxed.owl glans of female genital tubercle EMAPA:19170 uberon owl:Class CHEBI:133610 biolink:NamedThing N-isobutyrylglycinate A monocarboxylic acid anion that is the conjugate base of N-isobutyrylglycine, obtained by deprotonation of the carboxy group; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl isobutyrylglycinate|N-(2-methylpropanoyl)glycinate|isobutanoylglycinate|(2-methylpropanamido)acetate|N-isobutanoylglycinate -1 C6H10NO3 InChI=1S/C6H11NO3/c1-4(2)6(10)7-3-5(8)9/h4H,3H2,1-2H3,(H,7,10)(H,8,9)/p-1 DCICDMMXFIELDF-UHFFFAOYSA-M 144.149 144.06662 C(CNC(=O)C(C)C)(=O)[O-] HMDB:HMDB0000730 chebi_ontology owl:Class HP:0031110 biolink:NamedThing Twin-to-twin transfusion As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure. tmpxe7fu0cj_hp_relaxed.owl Twin to twin transfusion syndrome 2017-06-30 16:02:43+00:00 robinp owl:Class HP:0100420 biolink:NamedThing Partial duplication of the middle phalanx of the 4th toe Partial duplication of middle phalanx of fourth toe. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the middle bone of the 4th toe|Partial duplication of the middle phalanx of the fourth toe UMLS:C4020979 human_phenotype owl:Class CHEBI:22653 biolink:NamedThing asparagine An alpha-amino acid in which one of the hydrogens attached to the alpha-carbon of glycine is substituted by a 2-amino-2-oxoethyl group. tmpxe7fu0cj_hp_relaxed.owl 2-amino-3-carbamoylpropanoic acid|asparagine|DL-Asparagine|N|asparagina|Hasp|Asparagin|2,4-diamino-4-oxobutanoic acid|ASN|Asn 0 C4H8N2O3 InChI=1S/C4H8N2O3/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H2,6,7)(H,8,9) DCXYFEDJOCDNAF-UHFFFAOYSA-N 132.11800 132.05349 NC(CC(N)=O)C(O)=O PMID:22264337|KEGG:C16438|Beilstein:1723525|Gmelin:279043|Wikipedia:Asparagine|Reaxys:1723525|CAS:3130-87-8|PMID:22770225 chebi_ontology owl:Class HP:0030200 biolink:NamedThing Fatiguable weakness of proximal limb muscles A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022583 owl:Class HP:0031456 biolink:NamedThing Ectopic pregnancy A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube). tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 15:55:36+00:00 peter owl:Class HP:0011109 biolink:NamedThing Chronic sinusitis A chronic form of sinusitis. tmpxe7fu0cj_hp_relaxed.owl Sinusitis, chronic|Chronic sinus disease UMLS:C0748720|SNOMEDCT_US:40055000|UMLS:C0149516 peter 2011-06-10T07:33:14Z human_phenotype owl:Class HP:0000298 biolink:NamedThing Mask-like facies A lack of facial expression often with staring eyes and a slightly open mouth. tmpxe7fu0cj_hp_relaxed.owl Masklike facies|Mask-like facial appearance|Lack of facial expression|Amimia|Expressionless face SNOMEDCT_US:103606006|UMLS:C0424448 Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy. human_phenotype owl:Class CL:0000652 biolink:NamedThing pinealocyte This cell type produces and secretes melatonin and forms the pineal parenchyma. Extending from each cell body, which has a spherical, oval or lobulated mucleus, are one or more tortuous basophilic processes, containing parallel microtubules known as synaptic ribbons. These processes end in expanded terminal buds near capillaries or less, frequently, ependymal cells of the pineal recess. The terminal buds contain granular endoplasmic reticulum, mitochondria and electron-dense cored vesicles, which store monoamines and polypeptide hormones, release of which appears to require sympathetic innervation. tmpxe7fu0cj_hp_relaxed.owl FMA:83417|BTO:0001068 cell owl:Class HP:0007709 biolink:NamedThing Band-shaped corneal dystrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C0155120|MSH:C562399|SNOMEDCT_US:35055000 human_phenotype owl:Class UBERON:3000977 biolink:NamedThing body external integument structure Dermal, epidermal, glandular and pigment structures of the body integument. tmpxe7fu0cj_hp_relaxed.owl amphibian_anatomy_curators uberon owl:Class This class was sourced from an external ontology (amphibian_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon UBERON:3000961 biolink:NamedThing external integument structure Structures of the dermis, epidermis, glands and pigment cells recognizable on the external surfaces of the integument. tmpxe7fu0cj_hp_relaxed.owl Not clear how this differs from parent class. See https://github.com/obophenotype/uberon/issues/1305 amphibian_anatomy_curators uberon owl:Class This class was sourced from an external ontology (amphibian_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon HP:0025108 biolink:NamedThing Angioma serpentinum Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis. tmpxe7fu0cj_hp_relaxed.owl 2016-10-29 00:31:03+00:00 Two different forms can be distinguished. Diffuse, non-segmental angioma serpiginosum occurs as a hereditary trait, and autosomal dominant transmission is presently assumed. HPO:probinson owl:Class CHEBI:24663 biolink:NamedThing hydroxy-5beta-cholanic acid Any member of the class of 5beta-cholanic acids carrying at least one hydroxy group at unspecified position. tmpxe7fu0cj_hp_relaxed.owl hydroxy-5beta-cholanic acids chebi_ontology owl:Class HP:0007480 biolink:NamedThing Decreased sweating due to autonomic dysfunction tmpxe7fu0cj_hp_relaxed.owl UMLS:C1868527 human_phenotype owl:Class HP:0000966 biolink:NamedThing Hypohidrosis Abnormally diminished capacity to sweat. tmpxe7fu0cj_hp_relaxed.owl Oligohidrosis|Decreased sweating|Decreased ability to sweat|Inadequate sweating|Sweating, decreased SNOMEDCT_US:45004005|UMLS:C0020620|MEDDRA:10021013|MSH:D007007 HP:0007551|HP:0007571 human_phenotype owl:Class HP:0000914 biolink:NamedThing Shield chest A broad chest. tmpxe7fu0cj_hp_relaxed.owl Shield chest|Broad chest UMLS:C1834124|UMLS:C1839248 Stretching of the thoracic cage as a result of fetal edema may contribute to the shield chest with widely spaced nipples that can be obsered in persons with Turner syndrome. human_phenotype owl:Class HP:0004676 biolink:NamedThing Prominent supraorbital arches in adult tmpxe7fu0cj_hp_relaxed.owl UMLS:C1834993 human_phenotype owl:Class GO:0043177 biolink:NamedThing organic acid binding Binding to an organic acid, any acidic compound containing carbon in covalent linkage. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class HP:0002694 biolink:NamedThing Sclerosis of skull base Increased bone density of the skull base without significant changes in bony contour. tmpxe7fu0cj_hp_relaxed.owl Dense bone of skull base|HyperOssification of skull base|Sclerosis of cranial base|HyperOstosis of skull base|Sclerotic skull base|Sclerosis of the skull base|Marked sclerosis of skull base|HyperMineralization of skull base|HyperCalcification of skull base UMLS:C4072847|UMLS:C1851714|UMLS:C4072848 HP:0005757 human_phenotype owl:Class HP:0030368 biolink:NamedThing Hyperphalangy of the 2nd finger An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy. tmpxe7fu0cj_hp_relaxed.owl Hyperphalangy of index finger UMLS:C4072907 owl:Class HP:0030367 biolink:NamedThing Finger hyperphalangy Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072906 owl:Class HP:0008058 biolink:NamedThing Aplasia/Hypoplasia of the optic nerve tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped optic nerve|Absent/small optic nerve UMLS:C4024743 peter 2008-04-02T03:28:00Z human_phenotype owl:Class PATO:0001828 biolink:NamedThing male pseudohermaphrodite A biological sex quality inhering in an individual or a population by virtue of having internal reproductive organs of male and external sexual characteristics of female. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0001827 biolink:NamedThing pseudohermaphrodite A biological sex quality inhering in an individual or a population by virtue of having internal reproductive organs of one sex and external sexual characteristics of the other sex. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0032576 biolink:NamedThing Intracellular accumulation of Dol-PP-GlcNAc2Man5 Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol. tmpxe7fu0cj_hp_relaxed.owl Intracellular accumulation of Dol-PP-GlcNAc2Man5 can result from a defect in ALG3, which encodes a mannosyltransferase that transfers mannose from dolichyl phosphate mannose. The accumulation can be measured in fibroblasts. During protein N-glycosylation, glycans from lipid-linked oligosaccharides (LLOs) are transferred onto asparagine residues located in N-glycosylation sequons. The synthesis of LLO comprises three steps: It begins with the biosynthesis of the intermediate Dol-PP-GlcNAc2Man5, which occurs on the cytoplasmic side of the endoplasmic reticulum (ER). The second step is the flipping of this intermediate to the luminal side of the ER. The third step comprises the glycan extension in the ER lumen, yielding Dol-PP-GlcNAc2Man9. peter owl:Class HP:0100046 biolink:NamedThing Cone-shaped epiphyses of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the 2nd toe bone UMLS:C4022375 doelkens 2010-06-24T09:58:18Z human_phenotype owl:Class HP:0004245 biolink:NamedThing Comma-shaped scaphoid tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025395 human_phenotype owl:Class HP:0010875 biolink:NamedThing Chaddock reflex A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1531651|SNOMEDCT_US:413813004 peter 2010-09-07T12:11:07Z human_phenotype owl:Class HP:0032281 biolink:NamedThing Abnormal base excess Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C). tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 23:07:10+00:00 The base excess increases in metabolic alkalosis and decreases in metabolic acidosis, but its utility in interpreting blood gas results is controversial. The term base excess is used in clinical practice, but the available blood gas devices calculate either the standard base excess, also called the base excess of the extracellular fluid, or the base excess of blood. Base deficit is calculated as the base excess times minus one. peter owl:Class HP:0005222 biolink:NamedThing Bowel diverticulosis The presence of multiple diverticula of the intestine. tmpxe7fu0cj_hp_relaxed.owl Bowel diverticula UMLS:C1395674|UMLS:C1394691 human_phenotype owl:Class HP:0031967 biolink:NamedThing Cloudy urine The appearance of the urine having visible material in suspension, i.e., appearing cloudy. tmpxe7fu0cj_hp_relaxed.owl Turbid urine 2018-07-07 23:20:18+00:00 Cloudy appearance of urine may be related to the presence of bacteria, blood, sperm, crystals, or mucus. peter owl:Class HP:0033072 biolink:NamedThing Abnormal macroscopic urine appearance Anomalous physical appearance (color, cloudiness, clarity) or odor of urine. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:5000009 biolink:NamedThing Anti-GABA(A)R antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R. tmpxe7fu0cj_hp_relaxed.owl Anti-gamma amino butyric acid type A receptors antibody|Anti-GABAA R antibody ORCID:0000-0002-3387-1836 owl:Class HP:0011026 biolink:NamedThing Aplasia/Hypoplasia of the vagina Aplasia or developmental hypoplasia of the vagina. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped vagina|Absent/small vagina UMLS:C4023586 peter 2011-03-02T06:17:46Z human_phenotype owl:Class UBERON:0037094 biolink:NamedThing wall of common carotid artery tmpxe7fu0cj_hp_relaxed.owl common carotid arterial wall FMA:66284 uberon owl:Class GO:0010700 biolink:NamedThing negative regulation of norepinephrine secretion Any process that decreases the frequency, rate or extent of the regulated release of norepinephrine. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0031053 biolink:NamedThing Coarctation in the transverse aortic arch Narrowing or constriction of the aorta localized to the region of the transverse aortic arch. tmpxe7fu0cj_hp_relaxed.owl 2017-05-27 17:07:47+00:00 peter owl:Class HP:0008150 biolink:NamedThing Elevated serum transaminases during infections Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1864179 human_phenotype owl:Class UBERON:0004331 biolink:NamedThing proximal phalanx of manual digit 5 A proximal phalanx that is part of a hand digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl fifth proximal phalanx of hand|proximal phalanx of manual digit V|proximal phalanx of little finger|5th finger proximal phalanx|hand digit 5 proximal phalanx|proximal phalanx of fifth digit of hand|manual digit 5 proximal phalanx|proximal phalanx of 5th finger|manual phalanx V-1|5th digit of hand proximal phalanx|proximal phalanx of 5th digit of hand|fifth finger proximal phalanx|proximal phalanx of fifth finger FMA:23922 uberon owl:Class HP:0034070 biolink:NamedThing Anti-enterocyte antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes. tmpxe7fu0cj_hp_relaxed.owl AEA 2021-12-18 14:35:11+00:00 peter owl:Class GO:0099538 biolink:NamedThing synaptic signaling via neuropeptide Cell-cell signaling to or from a synapse, mediated by a peptide. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009337 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 3rd finger A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the outermost bone of the middle finger UMLS:C4024430 doelkens 2009-01-12T11:18:33Z human_phenotype owl:Class HP:0011211 biolink:NamedThing EEG with photoparoxysmal response grade I Occurrence of epileptiform discharges in occipital regions during photic stimulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023464 peter 2011-11-19T12:59:07Z human_phenotype owl:Class MAXO:0010315 biolink:NamedThing neck CT The use of computed tomography to produce images of structures of the neck. tmpxe7fu0cj_hp_relaxed.owl CT of neck|neck computerized axial tomography|neck CT examination|neck computed tomography|CAT scan of neck|neck CAT scan 2020-03-31T20:39:14Z http://orcid.org/0000-0001-7941-2979 owl:Class HP:0032844 biolink:NamedThing Focal impaired awareness epileptic spasm A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0010158 biolink:NamedThing sphenozygomatic suture The Sphenozygomatic suture is the cranial suture between the sphenoid bone and the zygomatic bone. tmpxe7fu0cj_hp_relaxed.owl sutura sphenozygomatica|sphenozygomatica suture of skull FMA:52956 http://upload.wikimedia.org/wikipedia/commons/a/a7/Gray189.png uberon owl:Class HP:0003261 biolink:NamedThing Increased circulating IgA level An abnormally increased level of immunoglobulin A in blood. tmpxe7fu0cj_hp_relaxed.owl Elevated serum IgA|Increased serum IgA|IgA hypergammaglobulinemia|Increased levels of IgA|Elevated IgA UMLS:C0239984 HP:0004436|HP:0005417|HP:0005351 human_phenotype owl:Class HP:0003803 biolink:NamedThing Type 1 muscle fiber predominance An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). tmpxe7fu0cj_hp_relaxed.owl Type I muscle fiber predominance|Type I muscle fibre predominance|Type 1 muscle fibre predominance UMLS:C1854387 This finding is demonstrated by muscle biopsy. HP:0003721|HP:0003807 owl:Class UBERON:0007521 biolink:NamedThing smooth muscle sphincter A ring of smooth muscle cells whose contraction closes the opening of the ring. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0003143|AEO:0000143 uberon owl:Class HP:0031606 biolink:NamedThing Retinal cotton wool spot Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. tmpxe7fu0cj_hp_relaxed.owl 2017-12-02 11:22:46+00:00 peter owl:Class HP:0012546 biolink:NamedThing Skewed maternal X inactivation A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022856 X chromosome inactivation (XCI) is the process by which one of the two copies of the X chromosome present in females is inactivated in order to achieves dosage equivalency for X-linked genes between XY males and XX females. An individual cell's decision to inactivate either the paternal or maternal X is made early in development, at approximately the time of implantation, such that normally there is a roughly equal distribution of either X being active. A deviation from equality is known as skewing, with common criteria for "skewed" inactivation being arbitrarily defined as the observation of inactivation of the same allele in 75% or 80% of cells (and very skewed inactivation resulting in 90% or 95% of cells with the same allele inactive). For some X-linked diseases there is strong selection in the heterozygous carrier in favor of cells bearing the mutation on the silenced inactive X, and thus, assessment of XCI skewing in female family members can be suggestive of carrier status. peter 2013-12-21T09:22:57Z human_phenotype owl:Class CL:0002336 biolink:NamedThing buccal mucosa cell An endothelial cell that lines the oral cavitiy including the mucosa of the gums, the palate, the lip, and the cheek. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2010-09-20T02:52:54Z cell owl:Class UBERON:0005484 biolink:NamedThing tricuspid valve leaflet A valve leaflet that is part of a tricuspid valve. tmpxe7fu0cj_hp_relaxed.owl leaflet of tricuspid valve|tricuspid valve leaflet|tricuspid valvular leaflet|tricuspid valve leaflets RETIRED_EHDAA2:0002082|FMA:7237|VHOG:0000821|MA:0003180|EMAPA:18630 uberon owl:Class Leaf of caridac valve which has as its parts the anterior, posterior and septal leaflets that is is attached to the chorda tendinea of the right ventricle and the fibrous ring of tricuspid valve. The mature AV (atrioventricular) valve of the adult zebrafish 2-chambered heart is structurally similar to the mammalian AV valves with stratified ECM (extracellular matrix) and supporting chordae tendineae. Therefore, the major cellular and molecular events of valve development are largely conserved among animals with hearts composed of multiple chambers.[uncertain][VHOG] HP:0100596 biolink:NamedThing Absent nares The nostrils (the paired channels of the nose) are not present. tmpxe7fu0cj_hp_relaxed.owl Missing nostrils|Aplasia of the nares|Aplasia/Hypoplasia of the nares|Abouphalia UMLS:C4020963|UMLS:C4020707 doelkens 2010-12-27T05:07:16Z HP:0100597 human_phenotype owl:Class UBERON:0036304 biolink:NamedThing anatomical border An anatomical structure that is located along the line dividing two regions of an anatomical structure. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0009528 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of innermost long bone of index finger UMLS:C4024308 doelkens 2009-01-16T01:12:34Z human_phenotype owl:Class HP:0011426 biolink:NamedThing Fetal choroid plexus cysts Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637). tmpxe7fu0cj_hp_relaxed.owl Foetal choroid plexus cysts SNOMEDCT_US:462165005|UMLS:C3532166 There is agreement that ultrasound characteristics of CPC, such as bilaterality, size, number, complexity, and resolution, are not related to the risk of aneuploidy. However, cysts with diameters less than 5 mm may not be linked with trisomy and large cysts in excess of 10 mm may impart a higher risk. peter 2012-03-17T06:59:50Z owl:Class HP:0010502 biolink:NamedThing Fibular bowing A bending or abnormal curvature of the fibula. tmpxe7fu0cj_hp_relaxed.owl Bowed calf bone UMLS:C4023801 A developmental defect with posteromedial fibular angulation. peter 2009-09-19T09:45:18Z human_phenotype owl:Class UBERON:0007285 biolink:NamedThing presumptive paraxial mesoderm The part of the blastula that has the potential to develop into a paraxial mesoderm. tmpxe7fu0cj_hp_relaxed.owl future paraxial mesoderm|future paraxial mesenchyme XAO:0004134|TAO:0000591|ZFA:0000591|EFO:0003443 uberon owl:Class HP:0011022 biolink:NamedThing Abnormal circulating unsaturated fatty acid concentration A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023590 peter 2011-02-28T09:04:58Z human_phenotype owl:Class HP:0003537 biolink:NamedThing Hypouricemia An abnormally low level of uric acid in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood uric acid levels UMLS:C0221333|SNOMEDCT_US:4519003 owl:Class HP:0010932 biolink:NamedThing Abnormal circulating nucleobase concentration An abnormality of a nucleobase metabolic process. tmpxe7fu0cj_hp_relaxed.owl Abnormal nucleoside levels UMLS:C4023643|UMLS:C4020762 This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. peter 2011-01-06T10:46:17Z human_phenotype owl:Class PATO:0000319 biolink:NamedThing cyan A color consisting of green and blue hue. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0004059 biolink:NamedThing Radial club hand Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025414 owl:Class GO:0003163 biolink:NamedThing sinoatrial node development The process whose specific outcome is the progression of the sinoatrial (SA) node over time, from its formation to the mature structure. The SA node is part of the cardiac conduction system that controls the timing of heart muscle contraction. It relays electrical signals to the AV node. tmpxe7fu0cj_hp_relaxed.owl SA node development|SAN development|sinus node development dph 2009-10-01T02:06:09Z biological_process owl:Class UBERON:0005697 biolink:NamedThing pedal digit 3 mesenchyme Mesenchyme that is part of a developing pedal digit 3. tmpxe7fu0cj_hp_relaxed.owl pedal digit III mesenchyme|hind limb digit 3 mesenchyme|foot digit 3 mesenchyme EHDAA2:0002049|EMAPA:17468 uberon owl:Class HP:0012078 biolink:NamedThing Motor conduction block Blockade of impulses at a focal site along the course of a motor axon. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023056 peter 2012-08-18T04:34:49Z human_phenotype owl:Class UBERON:0006290 biolink:NamedThing scapula cartilage element A scapula endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001777|VHOG:0001125|EMAPA:18343|EHDAA:8368 uberon owl:Class HP:0004222 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 5th finger A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the outermost pinkie finger bone|Cone-shaped epiphysis of the distal phalanx of the little finger|Cone-shaped end part of the outermost pinky finger bone|Cone-shaped end part of the outermost little finger bone UMLS:C4021675 human_phenotype owl:Class UBERON:0012499 biolink:NamedThing serosa of uterine tube A serous membrane that is part of a fallopian tube. tmpxe7fu0cj_hp_relaxed.owl serosa of fallopian tube|serosa of oviduct|tunica serosa (tuba uterina)|uterine tube serosa|uterine tubal serosa|serous coat of uterine tube|tunica serosa tubae uterinae FMA:18316 uberon owl:Class HP:0032995 biolink:NamedThing Decreased pulmonary fissure count Lack of one or more of the normal pulmonary fissures. tmpxe7fu0cj_hp_relaxed.owl Reduced pulmonary fissure count peter owl:Class HP:0032993 biolink:NamedThing Abnormal pulmonary fissure count A deviation from the normal number of pulmonary fissures. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0003133 biolink:NamedThing Abnormality of the spinocerebellar tracts An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025647 human_phenotype owl:Class HP:0005709 biolink:NamedThing 2-3 toe cutaneous syndactyly tmpxe7fu0cj_hp_relaxed.owl Cutaneous syndactyly of second and third toes|Complete cutaneous syndactyly of second and third toes|Webbed skin of 2nd-3rd toes|Cutaneous 2,3 toe syndactyly SNOMEDCT_US:205145001|UMLS:C0432040 owl:Class HP:0001902 biolink:NamedThing Giant platelets Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). tmpxe7fu0cj_hp_relaxed.owl UMLS:C0333864|SNOMEDCT_US:44687006 This phenotype may be present in myelodysplastic or myeloproliferative diseases and autoimmune thrombocytopenia (associated with severe leukemoid reactions). It may also be present in inherited diseases such as Bernard-Soulier syndrome or May-Hegglin anomaly. human_phenotype owl:Class HP:0011877 biolink:NamedThing Increased mean platelet volume Average platelet volume above the upper limit of the normal reference interval. tmpxe7fu0cj_hp_relaxed.owl Large platelets UMLS:C1096367 Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL). peter 2012-05-31T03:58:17Z human_phenotype owl:Class HP:0410252 biolink:NamedThing Chronic neutropenia Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months. tmpxe7fu0cj_hp_relaxed.owl 2018-10-19 18:25:23+00:00 owl:Class HP:0001875 biolink:NamedThing Neutropenia An abnormally low number of neutrophils in the peripheral blood. tmpxe7fu0cj_hp_relaxed.owl Low blood neutrophil count|Low neutrophil count|Peripheral neutropenia|Neutropoenia UMLS:C0853697|SNOMEDCT_US:165517008 Mild neutropenia is defined as an absolute neutrophil count of less than 1500 cells per microliter of blood, moderate less than 1000 cells per microliter of blood and, and severe is less than 500 cells per microliter of blood. HP:0005515|HP:0005533 owl:Class GO:0045818 biolink:NamedThing negative regulation of glycogen catabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:1901212 biolink:NamedThing positive regulation of cardiac chamber formation Any process that activates or increases the frequency, rate or extent of cardiac chamber formation. tmpxe7fu0cj_hp_relaxed.owl upregulation of heart chamber formation|up regulation of heart chamber formation|activation of cardiac chamber formation|positive regulation of heart chamber formation|up-regulation of heart chamber formation|upregulation of cardiac chamber formation|up-regulation of cardiac chamber formation|up regulation of cardiac chamber formation|activation of heart chamber formation rl 2012-07-31T07:19:05Z biological_process owl:Class HP:0041149 biolink:NamedThing Fractured navicular bone of pes A partial or complete breakage of the navicular bone of pes. tmpxe7fu0cj_hp_relaxed.owl bone navicular bone of pes owl:Class UBERON:0004451 biolink:NamedThing trunk or cervical vertebra A vertebra in the trunk or cervical region. Includes all cervical, thoracic and lumbar vertebrae, but excludes caudal vertebra. tmpxe7fu0cj_hp_relaxed.owl presacral vertebra MA:0002869|EMAPA:37722|XAO:0003077 uberon owl:Class In humans, there are 24 presacral vertebrae (7 cervical, 12 thoracic, and 5 lumbar) it's not clear if the XAO class belongs here or below HP:0009286 biolink:NamedThing Curved distal phalanx of the 4th finger Curved appearance of the distal phalanx of the 4th (ring) finger. tmpxe7fu0cj_hp_relaxed.owl Curved outermost ring finger bone UMLS:C4024469 doelkens 2009-01-08T03:46:28Z human_phenotype owl:Class CHEBI:57726 biolink:NamedThing D-proline zwitterion A D-alpha-amino acid zwitterion that is D-proline in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl (2R)-pyrrolidinium-2-carboxylate|D-proline 0 C5H9NO2 InChI=1S/C5H9NO2/c7-5(8)4-2-1-3-6-4/h4,6H,1-3H2,(H,7,8)/t4-/m1/s1 ONIBWKKTOPOVIA-SCSAIBSYSA-N 115.13050 115.06333 [O-]C(=O)[C@H]1CCC[NH2+]1 MetaCyc:D-PROLINE chebi_ontology owl:Class HP:0031171 biolink:NamedThing Femoral spur A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck. tmpxe7fu0cj_hp_relaxed.owl Spurring of femur 2017-06-18 20:02:20+00:00 peter owl:Class UBERON:0007684 biolink:NamedThing uriniferous tubule Functional unit of the kidney that forms urine, consisting of two parts, the nephron and the collecting tubule. tmpxe7fu0cj_hp_relaxed.owl FMA:17691 uberon owl:Class PATO:0001563 biolink:NamedThing increased mass A mass which is higher than normal or average. tmpxe7fu0cj_hp_relaxed.owl high mass|large mass PATO:0000578 quality owl:Class HP:0025581 biolink:NamedThing Foveal hemorrhage Bleeding occurring within the fovea. tmpxe7fu0cj_hp_relaxed.owl Foveal haemorrhage 2018-01-13 19:21:30+00:00 HPO:probinson owl:Class HP:0025574 biolink:NamedThing Macular hemorrhage Bleeding occurring within the macula lutea of the retina. tmpxe7fu0cj_hp_relaxed.owl Macular haemorrhage 2017-12-15 14:47:24+00:00 HPO:probinson owl:Class HP:0032073 biolink:NamedThing Aplasia of the fallopian tube Aplasia, that is failure to develop, of the fallopian tube. tmpxe7fu0cj_hp_relaxed.owl 2018-10-13 11:45:07+00:00 peter owl:Class PATO:0002281 biolink:NamedThing biscupidate A cuscpidate quality inhering in a bearer by virtue of the bearer possessing two cusps. tmpxe7fu0cj_hp_relaxed.owl bicuspid 2011-02-07T03:13:18Z quality owl:Class PATO:0002257 biolink:NamedThing multicuspidate A cuscpidate quality inhering in a bearer by virtue of the bearer possessing more than one cusp. tmpxe7fu0cj_hp_relaxed.owl 2010-09-08T02:23:22Z quality owl:Class GO:0050911 biolink:NamedThing detection of chemical stimulus involved in sensory perception of smell tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0009593 biolink:NamedThing detection of chemical stimulus The series of events in which a chemical stimulus is received by a cell and converted into a molecular signal. tmpxe7fu0cj_hp_relaxed.owl chemoperception|perception of chemical stimulus|perception of chemical substance|chemoreception|detection of chemical substance biological_process owl:Class HP:0004401 biolink:NamedThing Meconium ileus Obstruction of the intestine due to abnormally thick meconium. tmpxe7fu0cj_hp_relaxed.owl Distal intestinal obstruction syndrome|Meconium ileus on ultrasonography|Meconium ileus in neonates UMLS:C3553397|UMLS:C0398349|UMLS:C2939175|SNOMEDCT_US:206523001|SNOMEDCT_US:86092005|SNOMEDCT_US:233662009 Obstruction of the intestine is known as ileus. peter 2008-03-18T09:16:00Z HP:0004402|HP:0002610 human_phenotype owl:Class HP:0011621 biolink:NamedThing Gerbode ventricular septal defect A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve. tmpxe7fu0cj_hp_relaxed.owl Left ventricular - right atrial communication SNOMEDCT_US:41893002|UMLS:C4023265|UMLS:C0265812 Echocardiography may visualize a jet across a small defect between left ventricle and right atrium. peter 2012-04-08T09:34:01Z human_phenotype owl:Class HP:0007535 biolink:NamedThing Hypopigmented streaks tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866244 human_phenotype owl:Class CHEBI:38323 biolink:NamedThing cholinergic drug Any drug used for its actions on cholinergic systems. Included here are agonists and antagonists, drugs that affect the life cycle of acetylcholine, and drugs that affect the survival of cholinergic neurons. tmpxe7fu0cj_hp_relaxed.owl cholinergic drugs|cholinomimetic|cholinergic agent chebi_ontology owl:Class CHEBI:35942 biolink:NamedThing neurotransmitter agent A substance used for its pharmacological action on any aspect of neurotransmitter systems. Neurotransmitter agents include agonists, antagonists, degradation inhibitors, uptake inhibitors, depleters, precursors, and modulators of receptor function. tmpxe7fu0cj_hp_relaxed.owl neurotransmitter agents chebi_ontology owl:Class HP:0001338 biolink:NamedThing Partial agenesis of the corpus callosum A partial failure of the development of the corpus callosum. tmpxe7fu0cj_hp_relaxed.owl Partial or complete agenesis of the corpus callosum|Partial or complete agenesis of corpus callosum|Partial corpus callosum agenesis|Partial agenesis of corpus callosum|Partial to complete agenesis of corpus callosum|Partial-total agenesis of corpus callosum|Corpus callosum agenesis, partial UMLS:C0431368|UMLS:C1857278|MSH:C536111|SNOMEDCT_US:253140003 HP:0006982|HP:0007090|HP:0007128 human_phenotype owl:Class HP:0001274 biolink:NamedThing Agenesis of corpus callosum Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. tmpxe7fu0cj_hp_relaxed.owl Absence of corpus callosum|Callosal agenesis|Dysplastic or absent corpus callosum|Absent corpus callosum|Corpus callosum agenesis|Agenesis of the corpus callosum UMLS:C0175754|SNOMEDCT_US:5102002|Fyler:4321|MSH:D061085 HP:0006800 human_phenotype owl:Class UBERON:0008456 biolink:NamedThing prezygapophysis of lumbar vertebra A prezygapophysis that is part of a lumbar vertebra. tmpxe7fu0cj_hp_relaxed.owl superior articular process of lumbar vertebra|cranial articular process of lumbar vertebra FMA:16126 uberon owl:Class HP:0031345 biolink:NamedThing Colonic arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 13:57:43+00:00 peter owl:Class GO:1904587 biolink:NamedThing response to glycoprotein Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glycoprotein stimulus. tmpxe7fu0cj_hp_relaxed.owl response to glycoproteins sl 2015-08-20T16:46:24Z biological_process owl:Class HP:0100768 biolink:NamedThing Choriocarcinoma A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:44769000|MSH:D002822|SNOMEDCT_US:188188009|UMLS:C0008497 doelkens 2011-06-07T11:05:40Z human_phenotype owl:Class HP:0031031 biolink:NamedThing Abnormal retinol-binding protein level A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol. tmpxe7fu0cj_hp_relaxed.owl 2017-05-27 10:59:35+00:00 peter owl:Class CHEBI:33560 biolink:NamedThing p-block element atom Any main group element atom belonging to the p-block of the periodic table. tmpxe7fu0cj_hp_relaxed.owl p-block element|p-block elements chebi_ontology owl:Class HP:0031539 biolink:NamedThing Linear IgA deposits along the epidermal basement membrane zone Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 01:33:51+00:00 peter owl:Class HP:0001460 biolink:NamedThing Aplasia/Hypoplasia involving the skeletal musculature Absence or underdevelopment of the musculature. tmpxe7fu0cj_hp_relaxed.owl Absent/small skeletal muscles|Absent/underdeveloped skeletal muscles UMLS:C4025773 peter 2008-04-07T10:46:00Z human_phenotype owl:Class HP:0033674 biolink:NamedThing Pulmonary blood flow redistribution Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung. tmpxe7fu0cj_hp_relaxed.owl 2021-02-28 15:06:40+00:00 Upper lobe blood diversion in patients with mitral valve disease is the archetypal example of redistribution. See Figure 59 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0006521 biolink:NamedThing Pulmonary lymphangiectasia Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid. tmpxe7fu0cj_hp_relaxed.owl Pulmonary lymphangiectasis UMLS:C1855480 HP:0006526|HP:0006551 human_phenotype owl:Class GO:0050962 biolink:NamedThing detection of light stimulus involved in sensory perception The series of events in which a light stimulus is received by a cell and converted into a molecular signal as part of the sensory perception of light. tmpxe7fu0cj_hp_relaxed.owl sensory transduction of light stimulus during sensory perception|sensory detection of light stimulus during sensory perception|sensory detection of light stimulus|sensory perception, sensory detection of light stimulus|sensory perception, sensory transduction of light stimulus|sensory transduction of light stimulus biological_process owl:Class UBERON:0011961 biolink:NamedThing articular capsule of hip joint An articular capsule that is part of the hip joint. tmpxe7fu0cj_hp_relaxed.owl fibrous capsule of hip joint|capsula articularis coxae|capsule of hip joint FMA:42821 uberon owl:Class HP:0008134 biolink:NamedThing Irregular tarsal ossification Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. tmpxe7fu0cj_hp_relaxed.owl Irregular tarsal centres|Irregular tarsal centers|Irregular ankle bone maturation UMLS:C4021554|UMLS:C4280415 HP:0008140 human_phenotype owl:Class HP:0008227 biolink:NamedThing Pituitary resistance to thyroid hormone A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:360353005|UMLS:C0342198|SNOMEDCT_US:360348000 human_phenotype owl:Class UBERON:0003443 biolink:NamedThing thoracic cavity nerve A nerve that is located in a thoracic cavity [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl cavity of chest nerve|chest cavity nerve|nerve of cavity of chest|nerve of chest cavity|nerve of cavity of thorax|nerve of pectoral cavity|pectoral cavity nerve|cavity of thorax nerve|nerve of thoracic cavity MA:0000556|EMAPA:37267 consider merging with thoracic nerve. In MA the only subclass is the phrenic nerve, which arises from a cervical nerve uberon owl:Class HP:0011230 biolink:NamedThing Laterally extended eyebrow An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location. tmpxe7fu0cj_hp_relaxed.owl Increased lateral length of eyebrow|Laterally elongated eyebrow|Laterally extended eyebrows UMLS:C4023451 The degree of extension beyond the obital rim that is considered abnormal has not been established. peter 2011-12-14T08:27:22Z human_phenotype owl:Class HP:0011697 biolink:NamedThing Supraventricular tachycardia with a manifest accessory pathway on the right free wall tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023225 peter 2012-04-10T10:59:00Z human_phenotype owl:Class GO:0005746 biolink:NamedThing mitochondrial respirasome The protein complexes that form the mitochondrial electron transport system (the respiratory chain), associated with the inner mitochondrial membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. tmpxe7fu0cj_hp_relaxed.owl mitochondrial respiratory supercomplex|mitochondrial respiratory chain supercomplex|mitochondrial electron transport chain|mitochondrial respiratory chain https://github.com/geneontology/go-ontology/issues/12846 pr 2012-02-23T05:13:54Z GO:0097249 cellular_component owl:Class CHEBI:35573 biolink:NamedThing organic mancude parent tmpxe7fu0cj_hp_relaxed.owl organic mancude-ring parents|organic mancude parents chebi_ontology owl:Class CHEBI:35568 biolink:NamedThing mancude ring Any molecular entity that consists of a ring having (formally) the maximum number of noncumulative double bonds. tmpxe7fu0cj_hp_relaxed.owl mancude rings|mancude-ring systems|mancunide-ring systems chebi_ontology owl:Class HP:0007946 biolink:NamedThing Unilateral narrow palpebral fissure A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only. tmpxe7fu0cj_hp_relaxed.owl Narrow palpebral fissure, unilateral|Unequal size of opening between the eyelids UMLS:C1866805|UMLS:C4280419 human_phenotype owl:Class HP:0033757 biolink:NamedThing Pancreatic steatosis Fat infiltration in the pancreas. tmpxe7fu0cj_hp_relaxed.owl Pancreatic lipomatous pseudohypertrophy|Pancreatic fatty replacement|Fatty pancreas|Pancreatic fatty infiltration|Non-alcoholic fatty pancreatic disease|Pancreatic lipomatosis 2021-04-22 22:17:33+00:00 Pancreatic steatosis is the most common benign pathologic condition of the pancreas in adult and commonly related to obesity and associated insulin resistance. peter owl:Class HP:0008963 biolink:NamedThing Tibialis muscle weakness Muscle weakness affecting the tibialis anterior muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024612 This is a bundled term which should be made obsolete. human_phenotype owl:Class HP:0011319 biolink:NamedThing Bilambdoid synostosis Premature synostosis of both lambdoid sutures. tmpxe7fu0cj_hp_relaxed.owl Bilateral lambdoid suture synostosis|Bilateral lambdoid craniosynostosis UMLS:C4021163 peter 2012-02-25T01:12:22Z owl:Class GO:0140029 biolink:NamedThing exocytic process The cellular processes that contribute to exocytosis. tmpxe7fu0cj_hp_relaxed.owl pg 2017-05-15T13:20:45Z biological_process owl:Class HP:0030882 biolink:NamedThing Coronary artery aneurysm Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel. tmpxe7fu0cj_hp_relaxed.owl Coronary arterial dilatation|Coronary artery ectasia|Coronary artery dilatation UMLS:C4255100|Fyler:3129 owl:Class HP:0007979 biolink:NamedThing Gaze-evoked horizontal nystagmus Horizontal nystagmus made apparent by looking to the right or to the left. tmpxe7fu0cj_hp_relaxed.owl Nystagmus, horizontal gaze-evoked|Nystagmus, horizontal, gaze-evoked UMLS:C1853394 HP:0007639 human_phenotype owl:Class UBERON:0003318 biolink:NamedThing mesenchyme of elbow Mesenchyme that is part of a developing elbow [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl cubital region mesenchyme|mesenchyme of cubital region|elbow mesenchyme EHDAA2:0000432|EMAPA:17416|EHDAA:4170|EHDAA:6216|VHOG:0001075 uberon owl:Class HP:0030155 biolink:NamedThing Scrotal pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum. tmpxe7fu0cj_hp_relaxed.owl Scrotal pain UMLS:C0236078|SNOMEDCT_US:20502007 owl:Class HP:0100120 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in of the end part of the middle bone of the 2nd toe UMLS:C4022301 doelkens 2010-06-24T10:05:37Z human_phenotype owl:Class UBERON:0010953 biolink:NamedThing nasalis muscle The nasalis (compressor naris) is a sphincter-like muscle of the nose whose function is to compress the nasal cartilage. It consists of two parts, transverse and alar: The transverse part arises from the maxilla, above and lateral to the incisive fossa; its fibers proceed upward and medially, expanding into a thin aponeurosis which is continuous on the bridge of the nose with that of the muscle of the opposite side, and with the aponeurosis of the Procerus. The alar part is attached at one end to the greater alar cartilage, and at the other to the integument at the point of the nose. Other sources divide it into 'Compressor nasalis' and 'Dilator nasalis'. tmpxe7fu0cj_hp_relaxed.owl musculus nasalis|compressor naris|compressor narium minor|nasalis|compressor nasi FMA:46770 http://upload.wikimedia.org/wikipedia/commons/b/bb/Nasalis.png uberon owl:Class UBERON:0008522 biolink:NamedThing nasal muscle Any muscle organ that is part of an nose. tmpxe7fu0cj_hp_relaxed.owl muscle of nose UMLS:C0224219|NCIT:C33158|FMA:73758 uberon owl:Class HP:0200000 biolink:NamedThing Dysharmonic bone age Different levels of maturation of different bones. tmpxe7fu0cj_hp_relaxed.owl Dysharmonic skeletal maturation UMLS:C4020918 Bone age is usually determined by using a radiograph of the left hand to compare with images in the Greulich-Pyle atlas and approximating the closest skeletal age. If the skeletal ages of individuals bones are different, i.e., different bones have (clearly) different levels of maturation, then it is referred to as dysharmonic skeletal maturation. sebastiankohler 2010-05-31T01:16:51Z human_phenotype owl:Class GO:0106216 biolink:NamedThing positive regulation of vesicle fusion with Golgi apparatus Any process that activates or increases the frequency, rate or extent of vesicle fusion with Golgi apparatus. tmpxe7fu0cj_hp_relaxed.owl hjd 2019-06-27T15:20:59Z biological_process owl:Class HP:0033241 biolink:NamedThing Polyalveolar lobe An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold. tmpxe7fu0cj_hp_relaxed.owl 2020-11-24 11:11:20+00:00 Indiviudals with polyalveolar lobe have some pulmonary function abnormalities, specifically a decrease in airway conductance, and forced expiratory volume. peter owl:Class HP:0004686 biolink:NamedThing Short third metatarsal Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of the 3rd metatarsal bone|Short 3rd long bone of foot UMLS:C4021650 HP:0010673 human_phenotype owl:Class GO:0042562 biolink:NamedThing hormone binding Binding to an hormone, a naturally occurring substance secreted by specialized cells that affect the metabolism or behavior of cells possessing functional receptors for the hormone. Hormones may be produced by the same, or different, cell as express the receptor. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class HP:0032690 biolink:NamedThing Focal aware cognitive seizure with dyscalculia/acalculia A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0030745 biolink:NamedThing Dilatation of the ductus arteriosus Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end. tmpxe7fu0cj_hp_relaxed.owl Congenital ductus arteriosus aneurysm|Aneurysm of the ductus arteriosus|Ductus arteriosus aneurysm SNOMEDCT_US:233990006|UMLS:C0398357 Ductus arteriosus aneurysm has been observed in patients with connective tissue disorders like Marfan and Ehlers-Danlos syndrome and in patients with chromosomal syndromes (e.g. Williams, Larsen, aneuploidies). Aneurysm is considered a severe form of dilatation. owl:Class HP:0002617 biolink:NamedThing Vascular dilatation Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. tmpxe7fu0cj_hp_relaxed.owl Aneurysmal disease|Aneurysms|Wider than typical opening or gap|Aneurysm|Aneurysmal dilatation MSH:D000783|SNOMEDCT_US:85659009|Fyler:2399|UMLS:C0002940|UMLS:C4020848|SNOMEDCT_US:432119003 Aneurysm is considered a severe form of dilatation. owl:Class CL:0000509 biolink:NamedThing gastrin secreting cell A peptide hormone secreting cell that secretes gastrin. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0003262 biolink:NamedThing Smooth muscle antibody positivity The presence in serum of antibodies against smooth muscle. tmpxe7fu0cj_hp_relaxed.owl Anti-smooth muscle antibody positivity|Smooth muscle antibody positive UMLS:C0241185|SNOMEDCT_US:310290006 Anti smooth muscle antibody (SMA) may be present in a number of conditions including chronic active hepatitis, autoimmune hepatitis, cirrhosis, and infectious mononucleosis. owl:Class UBERON:0010848 biolink:NamedThing radius-ulna cartilage element A radius-ulna endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl radio-ulna cartilage condensation EMAPA:17711 uberon owl:Class note that this is not represented as a single unit in EHDAA2 HP:0008222 biolink:NamedThing Female infertility tmpxe7fu0cj_hp_relaxed.owl Female infertility MSH:D007247|SNOMEDCT_US:6738008|UMLS:C0021361 human_phenotype owl:Class HP:0030753 biolink:NamedThing Intrauterine fetal demise of one twin after midgestation Loss of one twin occurring after midgestation (17 weeks gestation). tmpxe7fu0cj_hp_relaxed.owl Intrauterine foetal demise of one twin after midgestation|Single-twin demise UMLS:C4280785 Loss of one twin in the first trimester does not appear to impair the development of the surviving twin. However, fetal death occurring after midgestation (17 weeks' gestation) may increase the risk of IUGR, preterm labor, preeclampsia and perinatal mortality. owl:Class HP:0010871 biolink:NamedThing Sensory ataxia Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. tmpxe7fu0cj_hp_relaxed.owl Ataxia, sensory|Afferent ataxia|Spinal ataxia SNOMEDCT_US:69131009|UMLS:C0240991|SNOMEDCT_US:445458007|UMLS:C0037921|MSH:D001259 Afferent (seonsory) ataxia is caused by lackof proprioceptive feedback during gait and stance. It can be caused by lesions to the peripheral nerves, the dorsal root ganglia, or the spinal cord. It can be distinguished from cerebellar ataxia by (1) heavy dependence of the affected individual on visual guidance; (2) a minor degree of oculomotor deficits; and (3) the absence of dysarthria. Afferent ataxia may be associated with impaired tendon reflexes and sensory deficits. peter 2010-08-18T01:57:54Z owl:Class HP:0010352 biolink:NamedThing Patchy sclerosis of 2nd toe phalanx Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl Patchy sclerosis of the phalanges of the 2nd toe|Uneven increase in bone density in 2nd toe bone UMLS:C4021287 doelkens 2009-07-16T11:45:34Z human_phenotype owl:Class HP:0003950 biolink:NamedThing Flared elbow metaphyses tmpxe7fu0cj_hp_relaxed.owl Flared wide portion of elbow bone UMLS:C4025484 human_phenotype owl:Class HP:0012386 biolink:NamedThing Absent hallux Aplasia of the hallux, that is, a development defect such that the big toe does not develop. tmpxe7fu0cj_hp_relaxed.owl Aplasia of the hallux|Missing big toe|Agenesis of the halluces|Absent big toe UMLS:C1841686 hecht 2013-10-20T12:03:14Z human_phenotype owl:Class HP:0410068 biolink:NamedThing Increased level of L-glutamic acid in blood An increase in the level of L-glutamic acid in the blood. tmpxe7fu0cj_hp_relaxed.owl 2018-01-29 22:56:49+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0040176 biolink:NamedThing Abnormal circulating phospholipid concentration Any deviation from the normal concentration of a phospholipid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal level of phospholipids UMLS:C4073141 HPO:skoehler owl:Class UBERON:0001209 biolink:NamedThing serosa of large intestine A serous membrane that is part of a large intestine [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl large intestine serous membrane|tunica serosa intestini crassi|serous membrane of large intestine|serous coat of large intestine|visceral peritoneum of large intestine|large intestinal serosa|large intestine serosa MA:0001546|EMAPA:37557|UMLS:C1517727|FMA:14975|NCIT:C32929 TODO - check serosa/peritoneum uberon owl:Class HP:0009954 biolink:NamedThing Complete duplication of the proximal phalanx of the 2nd finger Complete duplication of the second proximal phalanx of hand. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the proximal bone of the index finger UMLS:C4024148 doelkens 2009-05-15T02:06:11Z human_phenotype owl:Class CL:0000970 biolink:NamedThing unswitched memory B cell An unswitched memory B cell is a memory B cell that has the phenotype IgM-positive, IgD-positive, CD27-positive, CD138-negative, IgG-negative, IgE-negative, and IgA-negative. tmpxe7fu0cj_hp_relaxed.owl IgD+ memory B cell|unswitched memory B-lymphocyte|non-class-switched memory B cell|unswitched memory B-cell|unswitched memory B lymphocyte This cell type is compatible with the HIPC Lyoplate markers for 'IgD+ memory B cell'. Per DSD: Unswitched memory B cells are also reportedly CD48-positive, CD84-positive, CD229-positive, and CD352-positive. cell owl:Class HP:0000399 biolink:NamedThing Prelingual sensorineural hearing impairment A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. tmpxe7fu0cj_hp_relaxed.owl Deafness, sensorineural, prelingual|Prelingual sensorineural deafness UMLS:C4021806 HP:0001731 human_phenotype owl:Class HP:0006397 biolink:NamedThing Lateral displacement of patellae tmpxe7fu0cj_hp_relaxed.owl UMLS:C1860156 human_phenotype owl:Class HP:0012510 biolink:NamedThing Extra-axial cerebrospinal fluid accumulation An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space. tmpxe7fu0cj_hp_relaxed.owl Extra-axial CSF accumulation UMLS:C4022871 peter 2013-12-08T08:37:34Z human_phenotype owl:Class GO:0019747 biolink:NamedThing regulation of isoprenoid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving isoprenoids. tmpxe7fu0cj_hp_relaxed.owl regulation of isoprenoid metabolism biological_process owl:Class HP:0030339 biolink:NamedThing Decreased circulating gonadotropin concentration A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). tmpxe7fu0cj_hp_relaxed.owl Decreased circulating gonadotropin level UMLS:C4072887 owl:Class HP:0033897 biolink:NamedThing Arcuate artery lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. tmpxe7fu0cj_hp_relaxed.owl Cholesterol emboli within arcuate arterial lumen 2021-06-23 22:23:31+00:00 peter owl:Class HP:0033862 biolink:NamedThing Cortical peritubular capillaritis Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 17:41:03+00:00 peter owl:Class HP:0033969 biolink:NamedThing Interlobular vein intima/media necrosis Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney. tmpxe7fu0cj_hp_relaxed.owl Necrosis within interlobular vein intima/media 2021-06-24 12:53:42+00:00 peter owl:Class HP:0008180 biolink:NamedThing Mildly elevated creatine kinase tmpxe7fu0cj_hp_relaxed.owl Mildly elevated serum CPK|Mildly elevated CPK|Moderately elevated serum CK|Mildly elevated serum CK|Mildly increased serum creatine kinase|Mildly elevated creatine phosphokinase|Moderately increased serum creatine kinase|Moderately elevated serum CPK|Mildly increased creatine kinase|Mildly elevated serum phospho-CK UMLS:C1850309 'has part' some ('increased amount' and ('inheres in' some blood) and (towards some IMR_0002602) and ('has modifier' some 'mild intensity') and ('has modifier' some abnormal)) HP:0003211 human_phenotype owl:Class HP:0003236 biolink:NamedThing Elevated circulating creatine kinase concentration An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. tmpxe7fu0cj_hp_relaxed.owl Increased creatine kinase|Elevated blood creatine phosphokinase|Elevated serum creatine phosphokinase|Elevated serum creatine kinase|Increased serum creatine phosphokinase|Elevated circulating creatine phosphokinase|Increased serum creatine kinase|Elevated creatine kinase|Increased creatine phosphokinase|Increased CPK|Elevated serum CPK|High serum creatine kinase|Increased serum CK UMLS:C0241005|UMLS:C0151576 'has part' some ('increased amount' and ('inheres in' some (IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal)) HP:0008164|HP:0002147|HP:0002906|HP:0003531|HP:0003078|HP:0003525 owl:Class HP:0007340 biolink:NamedThing Lower limb muscle weakness Weakness of the muscles of the legs. tmpxe7fu0cj_hp_relaxed.owl Muscle weakness in lower limbs|Leg weakness|Lower limb weakness|Lower limb muscle weakness|Lower extremity weakness SNOMEDCT_US:249945007|UMLS:C1836296|UMLS:C0427068 Inability to perform rapid, alternating movements. HP:0009047|HP:0002065|HP:0002477 human_phenotype owl:Class MAXO:0000426 biolink:NamedThing MRI of the abdomen A medical examination performed using of magnetic resonance imaging to image the abdomen. tmpxe7fu0cj_hp_relaxed.owl abdomen MRI|Nuclear magnetic resonance imaging of the abdomen|abdomen magnetic resonance imaging 2019-05-19T20:39:14Z http://orcid.org/0000-0001-7941-2961 owl:Class HP:0000430 biolink:NamedThing Underdeveloped nasal alae Thinned, deficient, or excessively arched ala nasi. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic alae nasi|Ala nasi, underdeveloped|Hypoplastic nostrils|Hypoplastic nares|Thin hypoplastic alae nasi|Decreased size of nasal alae|Small nasal alae|Hypoplastic alar cartilage|Underdeveloped tissue around nostril|Hypoplastic nasal wings|Hypoplastic alar nasae|Nasal cartilage hypoplasia|Hypoplastic nasal alae|Hypoplastic alae nasae|Alar cartilage hypoplasia UMLS:C1834055 The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed. HP:0005277|HP:0004507|HP:0005286|HP:0004497|HP:0005276 human_phenotype owl:Class HP:0012485 biolink:NamedThing Abnormal surface-connected open canalicular system An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021840 peter 2013-11-29T07:55:15Z human_phenotype owl:Class HP:0031713 biolink:NamedThing Constant exotropia A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 13:23:11+00:00 peter owl:Class HP:0000577 biolink:NamedThing Exotropia A form of strabismus with one or both eyes deviated outward. tmpxe7fu0cj_hp_relaxed.owl Outward facing eye ball MSH:D005099|SNOMEDCT_US:399252000|UMLS:C0015310|SNOMEDCT_US:399054005 HP:0008033 human_phenotype owl:Class HP:0030765 biolink:NamedThing Sleep terror Episodes of intense fear, screaming and flailing although affected individuals are still asleep. tmpxe7fu0cj_hp_relaxed.owl Night terror|Sleep terrors|Pavor nocturnus SNOMEDCT_US:89675003|MSH:D020184|UMLS:C0037320 Sleep terrors may occur in individuals who are sleepwalking. owl:Class HP:0006532 biolink:NamedThing Recurrent pneumonia An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. tmpxe7fu0cj_hp_relaxed.owl Recurrent pulmonary infections|Pulmonary infection|Pneumonia, recurrent episodes|Recurrent pneumonia|Pulmonary infections|Multiple pulmonary infections|Pneumonia, recurrent|pulmonary infections, recurrent SNOMEDCT_US:128601007|UMLS:C0748140|SNOMEDCT_US:699014000|UMLS:C0876973|UMLS:C0694550|UMLS:C1859117 Recurrent pneumonia is defined as two or more episodes in a single year, or at least three episodes ever, with radiographic clearing of densities between occurrences. HP:0002095|HP:0002096 human_phenotype owl:Class HP:0002783 biolink:NamedThing Recurrent lower respiratory tract infections An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. tmpxe7fu0cj_hp_relaxed.owl Recurrent chest infections|Chronic lung infections|Lower respiratory tract infections UMLS:C0149725|SNOMEDCT_US:448739000|UMLS:C0585953|SNOMEDCT_US:50417007|UMLS:C3163798 HP:0004884|HP:0005955 human_phenotype owl:Class UBERON:0014506 biolink:NamedThing distal interphalangeal joint of digit 3 A distal inter-phalangeal joint that is part of the 3rd digit. tmpxe7fu0cj_hp_relaxed.owl distal interphalangeal joint 3|equine second interphalangeal joint of limb digit III|coffin joint|distal interphalangeal joint of digit III|equine distal interphalangeal joint NCIT:C102292 uberon owl:Class In Equidae, this is known as the coffin joint, and is the articulation between the short pastern bone (P2) and the coffin bone (P3 / distal phalanx) UBERON:0035648 biolink:NamedThing nerve innervating pinna Any nerve that innervates the pinna. tmpxe7fu0cj_hp_relaxed.owl auricular nerve EMAPA:36513|MA:0001232 uberon owl:Class GO:0043199 biolink:NamedThing sulfate binding Binding to sulfate, SO4(2-), a negatively charged small molecule. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class HP:0040106 biolink:NamedThing Morphological abnormality of the lateral semicircular canal tmpxe7fu0cj_hp_relaxed.owl Morphological abnormality of the horizontal semicircular canal UMLS:C4021034 HPO:skoehler owl:Class HP:0006114 biolink:NamedThing Multiple palmar creases The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease). tmpxe7fu0cj_hp_relaxed.owl Multiple palm lines UMLS:C1861872 human_phenotype owl:Class HP:4000033 biolink:NamedThing Non-spinning vertigo A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving). tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 15:11:06+00:00 This feature can be observed in mal de debarquement syndrome and in vestibular paroxysmia. robinp owl:Class GO:1905114 biolink:NamedThing cell surface receptor signaling pathway involved in cell-cell signaling Any cell surface receptor signaling pathway that is involved in cell-cell signaling. tmpxe7fu0cj_hp_relaxed.owl cell surface receptor linked signal transduction involved in cell-cell signaling|cell surface receptor linked signaling pathway involved in cell-cell signalling|cell surface receptor linked signalling pathway involved in cell-cell signaling|cell surface receptor linked signalling pathway involved in cell-cell signalling|cell surface receptor signaling pathway involved in cell-cell signalling|cell surface receptor linked signaling pathway involved in cell-cell signaling|cell surface receptor linked signal transduction involved in cell-cell signalling dos 2016-04-06T16:59:57Z biological_process owl:Class HP:0007697 biolink:NamedThing Hypoplasia of the lower eyelids Underdevelopment of the lower eyelid. tmpxe7fu0cj_hp_relaxed.owl Small lower eyelid|Decreased size of lower eyelid|Hypotrophic lower eyelid|Underdevelopment of lower eyelid|Short lower eyelid UMLS:C4280420|UMLS:C4280270|UMLS:C4024814 human_phenotype owl:Class UBERON:0004267 biolink:NamedThing back connective tissue A portion of connective tissue that is part of a back [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mesenchyne of back EMAPA:37256|MA:0000495 uberon owl:Class HP:0010537 biolink:NamedThing Wide cranial sutures An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). tmpxe7fu0cj_hp_relaxed.owl Widened cranial sutures|Persistent open cranial sutures|open cranial sutures|Broad cranial sutures|Large cranial suture UMLS:C0410935|SNOMEDCT_US:268855009 peter 2009-09-21T09:50:28Z human_phenotype owl:Class HP:0100842 biolink:NamedThing Septo-optic dysplasia Underdevelopment of the optic nerve and absence of the septum pellucidum. tmpxe7fu0cj_hp_relaxed.owl De Morsier syndrome MSH:D025962|SNOMEDCT_US:7611002|UMLS:C0338503 doelkens 2011-06-09T06:44:12Z owl:Class HP:0000571 biolink:NamedThing Hypometric saccades Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0423082|SNOMEDCT_US:246768008 human_phenotype owl:Class HP:0004937 biolink:NamedThing Pulmonary artery aneurysm An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:194892009|UMLS:C0155676 human_phenotype owl:Class HP:0004927 biolink:NamedThing Pulmonary artery dilatation An abnormal widening of the diameter of the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:251047005|UMLS:C0428851 human_phenotype owl:Class HP:0031934 biolink:NamedThing Abnormal descending aorta morphology A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen. tmpxe7fu0cj_hp_relaxed.owl 2018-07-04 20:44:36+00:00 peter owl:Class GO:0008645 biolink:NamedThing hexose transmembrane transport The process in which hexose is transported across a membrane. Hexoses are aldoses with a chain of six carbon atoms in the molecule. tmpxe7fu0cj_hp_relaxed.owl hexose membrane transport|hexose transport|low-affinity hexose transport|high-affinity hexose transport Note that this term is not intended for use in annotating lateral movement within membranes. bf 2010-04-08T10:27:23Z GO:0008646|GO:0008647|GO:0035428 biological_process owl:Class GO:0015749 biolink:NamedThing monosaccharide transmembrane transport The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. tmpxe7fu0cj_hp_relaxed.owl monosaccharide transport vw 2017-02-19T10:41:27Z GO:1905950 biological_process owl:Class HP:0040020 biolink:NamedThing Radial deviation of the 5th finger tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022487 HPO:skoehler owl:Class HP:0025200 biolink:NamedThing Muscle fiber actin filament accumulation Accumulation in muscle cells of filaments composed of actin. tmpxe7fu0cj_hp_relaxed.owl Muscle fibre actin filament accumulation 2016-12-06 03:05:47+00:00 HPO:probinson owl:Class UBERON:0016509 biolink:NamedThing cavity of right ventricle Luminal space of the right ventricle of the heart. tmpxe7fu0cj_hp_relaxed.owl right ventricular cavity|right ventricle lumen FMA:9291|EMAPA:26047 uberon owl:Class HP:0006615 biolink:NamedThing Absent in utero rib ossification Lack of formation and mineralization of the ribs in utero. tmpxe7fu0cj_hp_relaxed.owl Absent rib calcification in utero UMLS:C1842695 human_phenotype owl:Class HP:0032162 biolink:NamedThing Unusual skin infection A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection. tmpxe7fu0cj_hp_relaxed.owl 2018-12-09 12:47:37+00:00 peter owl:Class HP:0031904 biolink:NamedThing Abnormal total hemolytic complement activity Any deviation from the normal total hemolytic complement activity in the circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal CH50 2018-05-19 15:22:54+00:00 The total hemolytic complement test, also known as the CH50, is a screening test for total complement activity. peter owl:Class HP:0010435 biolink:NamedThing Short middle phalanx of the 2nd toe Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic/small middle phalanx of the 2nd toe|Short middle phalanx of the second toe|Short middle 2nd toe bone UMLS:C4021266 doelkens 2009-07-16T04:28:48Z human_phenotype owl:Class HP:0032223 biolink:NamedThing Blood group Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems. tmpxe7fu0cj_hp_relaxed.owl 2019-01-24 11:33:51+00:00 At present, there are 34 blood group systems recognized by the International Society for Blood Transfusion. peter owl:Class GO:0006582 biolink:NamedThing melanin metabolic process The chemical reactions and pathways involving melanins, pigments largely of animal origin. High molecular weight polymers of indole quinone, they are irregular polymeric structures and are divided into three groups: allomelanins in the plant kingdom and eumelanins and phaeomelanins in the animal kingdom. tmpxe7fu0cj_hp_relaxed.owl melanin metabolism biological_process owl:Class CHEBI:64589 biolink:NamedThing glycine receptor agonist An agonist that binds to and activates glycine receptors tmpxe7fu0cj_hp_relaxed.owl glycine receptor agonists chebi_ontology owl:Class HP:0025156 biolink:NamedThing Dependency on intravenous nutrition Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status. tmpxe7fu0cj_hp_relaxed.owl Dependency on IV nutrition 2016-12-04 12:14:59+00:00 Total parenteral nutrition (TPN) refers to the application of an intravenous nutritional solution in individuals with gastrointestinal disorders that prevent them from absorbing a sufficient amount of nutrients from the gut to maintain health. The solution contains protein, carbohydrates (in the form of glucose), glucose, fat, vitamins, and minerals. Dependency on TPN is essentially a manifestation of the continued severity of a gastrointestinal disorder. HPO:probinson owl:Class GO:0150099 biolink:NamedThing neuron-glial cell signaling Cell-cell signaling that mediates the transfer of information from a neuron to a glial cell. This signalling has been shown to be mediated by various molecules released by different types of neurons, e.g. glutamate, gamma-amino butyric acid (GABA), noradrenaline, acetylcholine, dopamine and adenosine. tmpxe7fu0cj_hp_relaxed.owl neuron-glia signaling|neurone-glia signalling|neuron-glial cell signalling|neuron-glia signalling|neurone-glial cell signalling|neurone-glial cell signaling|neurone-glia signaling bc 2018-12-17T12:30:12Z biological_process owl:Class MPATH:574 biolink:NamedThing nephroblastomatosis Persistence of metanephrogenic blastema or its presence in the wrong place or at the wrong time. Associated with hyperplastic nephrogenic rests. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class MPATH:64 biolink:NamedThing developmental dysplasia Abnormal development (of organs or tissues) or an abnormal structure resulting from such growth. tmpxe7fu0cj_hp_relaxed.owl The word dysplasia as commonly used refers to a precursor state to neoplasia. This is not the context used for this MPATH term. mouse_pathology.ontology owl:Class HP:0000695 biolink:NamedThing Natal tooth A tooth present at birth or erupting within the first month of life. tmpxe7fu0cj_hp_relaxed.owl Natal teeth|Born with teeth|Neonatal teeth|Teeth present at birth SNOMEDCT_US:58748004|MSH:D009306|SNOMEDCT_US:21995002|UMLS:C0027443 A tooth erupting between the second and fourth month is called a neonatal tooth. A natal tooth is uncommon, the prevalence at birth is 1/2000 to 1/3500 birth. In 85%, the erupted tooth is the deciduous lower incisors, and in 5%, it concerns upper incisors or molars, and in 10%, it involves supernumerary teeth. Natal teeth are usually mobile and lack root formation. owl:Class HP:0010422 biolink:NamedThing Complete duplication of the proximal phalanx of the 2nd toe Complete duplication of proximal phalanx of second toe. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the innermost 2nd toe bone|Complete duplication of the proximal phalanx of the second toe UMLS:C4021271 doelkens 2009-07-16T12:56:56Z human_phenotype owl:Class HP:0033792 biolink:NamedThing Cross bite Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth. tmpxe7fu0cj_hp_relaxed.owl 2021-05-07 11:30:03+00:00 Cross bite may occur unilaterally, bilaterally, or frontally. A total cross bite with buccal displacement of the maxillary posterior teeth, with or without contact between the lingual surface of the maxillary lingual cusp and the buccal surface of the buccal cusp of its mandibular antagonist, has been called scissor bite. If only a single tooth is affected, the term single cross bite can be used. peter owl:Class HP:0030618 biolink:NamedThing Increased OCT-measured foveal thickness tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073088 owl:Class HP:0032798 biolink:NamedThing Focal impaired awareness cognitive seizure with neglect A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0100397 biolink:NamedThing Short proximal phalanx of the 5th toe Developmental hypoplasia of the proximal phalanx of fifth toe. tmpxe7fu0cj_hp_relaxed.owl Short innermost bone of pinky toe|Hypoplastic/small proximal phalanx of the 5th toe|Short innermost bone of pinkie toe|Short proximal phalanx of the fifth toe|Short innermost bone of little toe UMLS:C4021000 human_phenotype owl:Class HP:0008072 biolink:NamedThing Maternal virilization in pregnancy Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024735 human_phenotype owl:Class HP:0020193 biolink:NamedThing Prolonged reptilase time An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds. tmpxe7fu0cj_hp_relaxed.owl Reptilase time may be increased with a deficiency of fibronogen. Unlike the thrombin time, this assay is not affected by the presence of heparin, hirudin, or direct thrombin inhibitors in a blood sample. robinp 2019-09-05 13:57:09+00:00 owl:Class GO:0032102 biolink:NamedThing negative regulation of response to external stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl downregulation of response to external stimulus|inhibition of response to external stimulus|down-regulation of response to external stimulus|down regulation of response to external stimulus Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class UBERON:0002466 biolink:NamedThing intestine secretion Clear to pale yellow watery secretions from the glands lining the small intestine walls. Secretion is stimulated by the mechanical pressure of partly digested food in the intestine. tmpxe7fu0cj_hp_relaxed.owl intestinal juice|succus entericus|intestinal secretion NCIT:C32875|UMLS:C0021849|BTO:0000644|MESH:D007419|FMA:62974|MA:0002515|GAID:1162 uberon owl:Class UBERON:0034705 biolink:NamedThing developing neuroepithelium An embryonic or larval epithelium that is committed to form part of the nervous system. tmpxe7fu0cj_hp_relaxed.owl neurepithelium|neuroepithelium|embryonic neuroepithelium BTO:0000314|EHDAA2_RETIRED:0004654|AEO:0001008|FMA:64807 uberon owl:Class CHEBI:51446 biolink:NamedThing organic divalent group tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class UBERON:0003597 biolink:NamedThing manual digit connective tissue A portion of connective tissue that is part of a finger [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hand digit connective tissue|connective tissue of finger|fore limb digit connective tissue|connective tissue of hand digit|connective tissue of digit of hand|connective tissue of digitus manus EMAPA:37321|MA:0000623 uberon owl:Class UBERON:0007690 biolink:NamedThing early pharyngeal endoderm . tmpxe7fu0cj_hp_relaxed.owl early pharyngeal arch endoderm|pharyngeal arch endoderm|pharyngeal endoderm|pharyngeal region endoderm TAO:0001104|FMA:293087|EFO:0003626|ZFA:0001104|EMAPA:32754|EHDAA2:0001457|EHDAA:962 relation conflict: ZFA vs EHDAA2. Note EHDAA2 term renamed to 'early PA endoderm' uberon owl:Class UBERON:0005017 biolink:NamedThing mucosa of lacrimal sac A mucosa that is part of a lacrimal sac [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lacrimal sac mucosa|mucous membrane of lacrimal sac|lacrimal sac mucous membrane|lacrimal sac organ mucosa|organ mucosa of lacrimal sac|lacrimal sac mucosa of organ|mucosa of organ of lacrimal sac FMA:72061 uberon owl:Class UBERON:0018243 biolink:NamedThing thymic artery A vein that supplies blood to the thymus. tmpxe7fu0cj_hp_relaxed.owl thymic arteries|thymic branch of internal thoracic artery FMA:10647 The arteries supplying the thymus are derived from the internal thoracic artery, and from the superior thyroid artery and inferior thyroids.[WP] uberon owl:Class PR:000017364 biolink:NamedThing von Willebrand factor A protein that is a translation product of the human VWF gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl VWF|vWF|F8VWF Category=gene. protein owl:Class HP:0032918 biolink:NamedThing Focal impaired awareness orofacial automatism seizure A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0025225 biolink:NamedThing Triggered by sound Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise. tmpxe7fu0cj_hp_relaxed.owl Triggered by sound|Sound triggered symptoms 2016-12-10 14:09:30+00:00 For instance, seizures associated with autosomal dominant partial epilepsy with auditory features may be triggered by certain sounds such as telephone ringing or speech. HPO:probinson owl:Class GO:0150031 biolink:NamedThing regulation of protein localization to lysosome Any process that modulates the frequency, rate or extent of protein localization to lysosome. tmpxe7fu0cj_hp_relaxed.owl bc 2018-02-06T17:07:03Z biological_process owl:Class HP:0004872 biolink:NamedThing Incisional hernia An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound. tmpxe7fu0cj_hp_relaxed.owl Recurrent abdominal hernia SNOMEDCT_US:241556001|UMLS:C0267716|SNOMEDCT_US:236037000|UMLS:C4021645|MSH:D000069290 human_phenotype owl:Class HP:0031255 biolink:NamedThing Hypothalamic arteriovenous malformation An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 15:49:25+00:00 peter owl:Class HP:0009858 biolink:NamedThing Triangular shaped proximal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Triangular shaped innermost finger bone UMLS:C4024177 doelkens 2009-03-11T12:16:33Z HP:0009877 human_phenotype owl:Class GO:1905871 biolink:NamedThing regulation of protein localization to cell leading edge Any process that modulates the frequency, rate or extent of protein localization to cell leading edge. tmpxe7fu0cj_hp_relaxed.owl regulation of protein localization in cell leading edge|regulation of protein localisation to cell leading edge|regulation of protein localisation in cell leading edge sl 2017-01-27T19:34:55Z biological_process owl:Class HP:0002613 biolink:NamedThing Biliary cirrhosis Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. tmpxe7fu0cj_hp_relaxed.owl Primary biliary cirrhosis SNOMEDCT_US:1761006|UMLS:C0023892|SNOMEDCT_US:31712002|UMLS:C0008312|MSH:D008105 human_phenotype owl:Class CHEBI:75767 biolink:NamedThing animal metabolite Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals. tmpxe7fu0cj_hp_relaxed.owl animal metabolites CHEBI:77743|CHEBI:77721 chebi_ontology owl:Class HP:0006232 biolink:NamedThing Expanded metacarpals with widened medullary cavities tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969288 human_phenotype owl:Class HP:5000016 biolink:NamedThing Anti-Hu antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu. tmpxe7fu0cj_hp_relaxed.owl Anti-Neuronal Nuclear Antibody type-1 antibody|Anti-ANNA-1 antibody ORCID:0000-0002-3387-1836 owl:Class GO:1905127 biolink:NamedThing negative regulation of axo-dendritic protein transport Any process that stops, prevents or reduces the frequency, rate or extent of axo-dendritic protein transport. tmpxe7fu0cj_hp_relaxed.owl down regulation of axo-dendritic protein transport|down-regulation of axonal protein transport|inhibition of axonal protein transport|downregulation of axo-dendritic protein transport|down regulation of axonal protein transport|down-regulation of axo-dendritic protein transport|negative regulation of axonal protein transport|inhibition of axo-dendritic protein transport|downregulation of axonal protein transport sl 2016-04-11T20:38:40Z biological_process owl:Class GO:1901202 biolink:NamedThing negative regulation of extracellular matrix assembly Any process that stops, prevents or reduces the frequency, rate or extent of extracellular matrix assembly. tmpxe7fu0cj_hp_relaxed.owl downregulation of extracellular matrix assembly|inhibition of extracellular matrix assembly|down regulation of extracellular matrix assembly|down-regulation of extracellular matrix assembly rl 2012-07-27T04:04:24Z biological_process owl:Class UBERON:0035322 biolink:NamedThing right common iliac artery tmpxe7fu0cj_hp_relaxed.owl trunk of right common iliac arterial tree FMA:14765|NCIT:C33474 uberon owl:Class GO:0004930 biolink:NamedThing G protein-coupled receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. tmpxe7fu0cj_hp_relaxed.owl RDC1 receptor activity|ligand-dependent GPCR activity|G-protein coupled receptor activity, unknown ligand|receptor activity, G-protein coupled|orphan G-protein coupled receptor activity|EBV-induced receptor|Mas proto-oncogene receptor activity|orphan GPCR activity|G-protein linked receptor activity|SREB receptor|super conserved receptor expressed in brain receptor activity|orphan G protein coupled receptor activity|GPCR activity|G protein linked receptor activity|Epstein-Barr Virus-induced receptor activity|G-protein coupled receptor activity|G protein coupled receptor activity Wikipedia:GPCR|Reactome:R-HSA-114558|Reactome:R-HSA-114552|Reactome:R-HSA-167408 GO:0016526|GO:0001624|GO:0001623|GO:0001622|GO:0001625 molecular_function owl:Class GO:0060841 biolink:NamedThing venous blood vessel development The progression of the venous blood vessel over time from its initial formation to the mature structure. Venous blood vessels carry blood back to the heart after the capillary bed. tmpxe7fu0cj_hp_relaxed.owl dph 2009-08-12T10:14:07Z biological_process owl:Class HP:0011108 biolink:NamedThing Recurrent sinusitis A recurrent form of sinusitis. tmpxe7fu0cj_hp_relaxed.owl Sinusitis, recurrent|Recurrent sinus disease UMLS:C4280333|SNOMEDCT_US:195788001|UMLS:C0581354 Recurring inflammation of the paranasal sinuses. peter 2011-06-10T07:31:22Z human_phenotype owl:Class HP:0031559 biolink:NamedThing Reduced fibroblast CD16 level Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 23:23:25+00:00 peter owl:Class HP:0031552 biolink:NamedThing Reduced fibroblast surface marker level Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 23:21:50+00:00 peter owl:Class HP:0009412 biolink:NamedThing Cone-shaped epiphyses of the 3rd finger A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of middle finger bone UMLS:C4024381 doelkens 2009-01-14T02:01:59Z human_phenotype owl:Class HP:0012837 biolink:NamedThing Generalized Affecting all regions without specificity of distribution. tmpxe7fu0cj_hp_relaxed.owl Generalised SNOMEDCT_US:60132005|UMLS:C0205246 PATO:0002403. peter 2014-06-06T07:25:58Z human_phenotype owl:Class PR:P01236 biolink:NamedThing prolactin (human) A prolactin that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl PRL|hPRL UniProtKB:P01236 Category=organism-gene. protein owl:Class HP:0410367 biolink:NamedThing Increased hepatitis A virus antibody level An abnormally increased level of immunoglobulin against hepatitis A virus in the blood. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0430023 biolink:NamedThing Abnormality of the maxillary sinus An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the maxillary antrum|Abnormality of the upper jaw sinus|Abnormality of the antrum of Highmore UMLS:C4073205 owl:Class GO:0002457 biolink:NamedThing T cell antigen processing and presentation The process in which a T cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. tmpxe7fu0cj_hp_relaxed.owl T lymphocyte antigen processing and presentation|T-cell antigen processing and presentation|T-lymphocyte antigen processing and presentation biological_process owl:Class HP:0009242 biolink:NamedThing Osteolytic defects of the distal phalanx of the 5th finger Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024504 doelkens 2009-01-05T07:25:50Z human_phenotype owl:Class HP:0045079 biolink:NamedThing Distal femoral metaphyseal irregularity Irregularity of the normally smooth surface of the distal metaphysis of the femur. tmpxe7fu0cj_hp_relaxed.owl Irregular distal femoral metaphyses HPO:skoehler owl:Class HP:0009071 biolink:NamedThing Inflammatory myopathy Chronic muscle inflammation accompanied by muscle weakness. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:128496001|SNOMEDCT_US:26889001|UMLS:C0027121|MSH:D009220 human_phenotype owl:Class CL:0002518 biolink:NamedThing kidney epithelial cell An epithelial cell of the kidney. tmpxe7fu0cj_hp_relaxed.owl KUPO:0001019 tmeehan 2011-02-08T10:46:34Z cell owl:Class GO:0030031 biolink:NamedThing cell projection assembly Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon. tmpxe7fu0cj_hp_relaxed.owl formation of a cell surface projection|cell projection biogenesis biological_process owl:Class HP:0100319 biolink:NamedThing Cerebral hyaline bodies Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance. tmpxe7fu0cj_hp_relaxed.owl Cerebral colloid bodies UMLS:C4021021 doelkens 2010-08-10T03:39:19Z human_phenotype owl:Class HP:0100237 biolink:NamedThing Proximal foot symphalangism tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022185 doelkens 2010-06-24T05:37:18Z human_phenotype owl:Class GO:0030246 biolink:NamedThing carbohydrate binding Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. tmpxe7fu0cj_hp_relaxed.owl selectin|sugar binding GO:0005529 molecular_function owl:Class HP:0012265 biolink:NamedThing Ciliary dyskinesia A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia. tmpxe7fu0cj_hp_relaxed.owl Lack of coordinated beating of respiratory cilia UMLS:C0008780|MSH:D002925|SNOMEDCT_US:86204009 Typically, but not always, dyskinesia is characterized by markedly attenuated ciliary beat frequency. peter 2013-04-07T10:14:07Z owl:Class HP:0032150 biolink:NamedThing Paroxysmal rectal pain Excruciating burning pain in the rectal area that may be triggered by defecation. tmpxe7fu0cj_hp_relaxed.owl 2018-12-02 12:29:59+00:00 peter owl:Class HP:0032148 biolink:NamedThing Episodic pain Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals. tmpxe7fu0cj_hp_relaxed.owl 2018-12-02 12:21:16+00:00 peter owl:Class HP:0032752 biolink:NamedThing Focal impaired awareness emotional seizure with fear/anxiety/panic Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033906 biolink:NamedThing Renal intimal/medial arteriolitis Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 22:50:38+00:00 peter owl:Class HP:0010818 biolink:NamedThing Generalized tonic seizure A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. tmpxe7fu0cj_hp_relaxed.owl Generalised hypertonic seizure|Hypertonic seizures|Generalised tonic seizure|Generalized hypertonic seizure|Generalised tonic seizures|Generalized tonic seizures UMLS:C1836508 Characterized by a sudden increase in muscle tone whereby the body, arms, or legs make sudden stiffening movements and consciousness is usually preserved. Tonic seizures can occur during sleep. Tonic seizures usually affect both sides of the body, and cause a fall if the affected person was standing when the seizure started. peter 2010-07-10T03:03:51Z HP:0002184 human_phenotype owl:Class HP:0025658 biolink:NamedThing Abnormal umbilical artery Doppler pattern in pregnancy Abnormal waveform of the umbilical artery dopplers during pregnancy. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0025657 biolink:NamedThing Abnormal umbilical blood flow measurement tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0010013 biolink:NamedThing Abnormality of the 5th metacarpal Any abnormality of the fifth metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the 5th long bone of hand UMLS:C4024110 doelkens 2009-05-27T03:35:21Z human_phenotype owl:Class HP:0041192 biolink:NamedThing Fractured epiphysis of fourth metacarpal bone A partial or complete breakage of the epiphysis of fourth metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl bone epiphysis of fourth metacarpal bone owl:Class HP:0011470 biolink:NamedThing Nasogastric tube feeding in infancy Feeding problem necessitating nasogastric tube feeding. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023343 This is a severe form of feeding problems in infancy. peter 2012-03-25T07:53:46Z human_phenotype owl:Class HP:0003066 biolink:NamedThing Limited knee extension Reduced ability to extend (straighten) the knee joint. tmpxe7fu0cj_hp_relaxed.owl Limited knee extension UMLS:C1844690 owl:Class HP:0033400 biolink:NamedThing Acute abdomen A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction. tmpxe7fu0cj_hp_relaxed.owl Acute abdominal pain 2021-01-09 14:55:42+00:00 peter owl:Class HP:0010141 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the outermost bone of the big toe UMLS:C4024018 doelkens 2009-05-29T01:22:47Z human_phenotype owl:Class UBERON:0011845 biolink:NamedThing duct of sebaceous gland A duct that is part of a sebaceous gland. tmpxe7fu0cj_hp_relaxed.owl sebaceous gland duct FMA:70947|NCIT:C33520 uberon owl:Class CL:0000636 biolink:NamedThing Mueller cell Astrocyte-like radial glial cell that extends vertically throughout the retina, with the nucleus are usually in the middle of the inner nuclear layer. tmpxe7fu0cj_hp_relaxed.owl Müller cell|Muller glia BTO:0003064 cell owl:Class HP:0032818 biolink:NamedThing Neonatal focal clonic seizure Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0060156 biolink:NamedThing milk ejection reflex tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0012618 biolink:NamedThing Urachal cyst A cyst located along the allantois canal. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:17234001|UMLS:C0041915|MSH:D014496 peter 2014-01-17T12:15:15Z human_phenotype owl:Class HP:0011929 biolink:NamedThing Hypersegmentation of proximal phalanx of third finger Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023122 This anomaly is characteristic for brachydactyly type C. peter 2012-06-10T10:49:28Z human_phenotype owl:Class MPATH:198 biolink:NamedThing immune mediated hemolytic anaemia An anemic/erythrocytopenic condition resulting from an increased rate of immune mediated erythrocyte destruction. tmpxe7fu0cj_hp_relaxed.owl George Gkoutos mouse_pathology.ontology owl:Class MPATH:212 biolink:NamedThing inflammation A tissue reaction to an internal or external injury. tmpxe7fu0cj_hp_relaxed.owl George Gkoutos mouse_pathology.ontology owl:Class HP:0033620 biolink:NamedThing Atypical perifissural nodule A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical). tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 22:39:18+00:00 peter owl:Class HP:0006625 biolink:NamedThing Multifocal breast carcinoma Breast carcinoma that is bilateral or otherwise multifocal. tmpxe7fu0cj_hp_relaxed.owl Multifocal breast cancer UMLS:C2986662 human_phenotype owl:Class HP:0003002 biolink:NamedThing Breast carcinoma The presence of a carcinoma of the breast. tmpxe7fu0cj_hp_relaxed.owl Breast cancer NCIT:C2916|SNOMEDCT_US:254838004|MSH:D001943|UMLS:C0678222 human_phenotype owl:Class UBERON:0006009 biolink:NamedThing cusp of cardiac valve The part of the heart valves that serves to seal the heart valves when closed. There are three cusps for each valve except for the mitral valve, which has only two (hence its alternate name, 'bicuspid valve'). 'Nodules' are located at the tip of the valve, to form a tighter seal[WP]. tmpxe7fu0cj_hp_relaxed.owl cardial valve cusp|cardiac valvular cusp|cardiac valvule|cardiac valve cusp|semilunar valvule FMA:7232|UMLS:C0225923|NCIT:C33849 http://upload.wikimedia.org/wikipedia/commons/5/50/Gray495.png uberon owl:Class HP:0006274 biolink:NamedThing Reduced pancreatic beta cells Reduced number of beta cells in the pancreatic islets of Langerhans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856904 The beta cells are responsible for producing insulin and amylin. human_phenotype owl:Class HP:0031341 biolink:NamedThing Gastric arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 13:53:06+00:00 peter owl:Class HP:0032538 biolink:NamedThing Pretibial dimple A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg. tmpxe7fu0cj_hp_relaxed.owl 2019-05-27 13:33:38+00:00 peter owl:Class HP:0020172 biolink:NamedThing Adverse drug response An unpleasant or harmful reaction resulting from treatment with a drug. tmpxe7fu0cj_hp_relaxed.owl Adverse drug reaction|Drug-induced reaction|Drug-induced response|Toxic drug response robinp 2019-07-06 21:45:45+00:00 owl:Class GO:0097048 biolink:NamedThing dendritic cell apoptotic process Any apoptotic process in a dendritic cell, a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. tmpxe7fu0cj_hp_relaxed.owl dendritic cell apoptosis pr 2011-05-04T02:18:59Z biological_process owl:Class GO:0045963 biolink:NamedThing negative regulation of dopamine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving dopamine. tmpxe7fu0cj_hp_relaxed.owl negative regulation of dopamine metabolism|down-regulation of dopamine metabolic process|down regulation of dopamine metabolic process|downregulation of dopamine metabolic process|inhibition of dopamine metabolic process biological_process owl:Class HP:0005292 biolink:NamedThing Intimal thickening in the coronary arteries tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968633 human_phenotype owl:Class HP:0025151 biolink:NamedThing Ganglioneuromatosis Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers. tmpxe7fu0cj_hp_relaxed.owl 2016-12-03 14:36:23+00:00 HPO:probinson owl:Class HP:0006338 biolink:NamedThing Malformation of mandibular premolar An abnormality of the morphology of secondary premolar tooth. tmpxe7fu0cj_hp_relaxed.owl Malformation of mandibular bicuspid|Malformation of lower premolar UMLS:C4025061 human_phenotype owl:Class UBERON:0005619 biolink:NamedThing secondary palatal shelf The outgrowths of the embryonic maxillary prominences that come together during prenatal development to form the secondary palate. tmpxe7fu0cj_hp_relaxed.owl palatine shelf|palatal shelves|palatal shelf|secondary palatal shelf|lateral palatine process MA:0001581|EHDAA:9283|EMAPA:17362|FMA:295948|EHDAA2:0001364|VHOG:0000378 consider splitting into embryonic/fully formed uberon owl:Class The outgrowths of the embryonic maxillae that come together during prenatal development to form the secondary palate. [TFD][VHOG] MPATH:197 biolink:NamedThing glomerulonephritis Renal disease characterised by diffuse inflammatory changes in glomeruli not in response to an infectious agent or treatment. tmpxe7fu0cj_hp_relaxed.owl George Gkoutos mouse_pathology.ontology owl:Class HP:0030298 biolink:NamedThing Metaphyseal chondromatosis of humerus tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021860 owl:Class UBERON:0016435 biolink:NamedThing chest wall Subdivision of thorax which includes all structures from the skin to the costal pleura. Examples: There is only one chest wall. tmpxe7fu0cj_hp_relaxed.owl FMA:50060|NCIT:C62484|EMAPA:37233 uberon owl:Class HP:0030414 biolink:NamedThing Verrucous cell carcinoma of the tongue A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072937 owl:Class CHEBI:58955 biolink:NamedThing branched-chain fatty acid anion Any fatty acid anion with a carbon side-chain or isopropyl termination. tmpxe7fu0cj_hp_relaxed.owl branched-chain fatty acid anions chebi_ontology owl:Class HP:0002002 biolink:NamedThing Deep philtrum Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. tmpxe7fu0cj_hp_relaxed.owl Increased depth of philtrum|Depressed philtrum|Philtrum, deep|Pronounced philtrum|Prominent philtrum UMLS:C4020861|UMLS:C1839797 Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges. HP:0004654|HP:0000305 human_phenotype owl:Class HP:0009536 biolink:NamedThing Short 2nd finger Hypoplasia of the second finger, also known as the index finger. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic index finger phalanges|Short index fingers|Short index finger phalanges|Hypoplastic/small index finger|Short index finger UMLS:C1862142 doelkens 2009-01-19T04:18:22Z HP:0004104|HP:0004115|HP:0005796|HP:0004113 human_phenotype owl:Class HP:0008240 biolink:NamedThing Secondary growth hormone deficiency tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024716 owl:Class HP:0011982 biolink:NamedThing Black pigment gallstones A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023098 peter 2012-07-18T09:25:05Z human_phenotype owl:Class HP:0011981 biolink:NamedThing Pigment gallstones Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3278865 peter 2012-07-18T09:18:44Z human_phenotype owl:Class HP:0010764 biolink:NamedThing Short eyelashes Decreased length of the eyelashes (subjective). tmpxe7fu0cj_hp_relaxed.owl Short eyelashes|Decreased length of eyelashes UMLS:C2748682 Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. peter 2010-04-24T03:31:00Z human_phenotype owl:Class GO:0001841 biolink:NamedThing neural tube formation The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. tmpxe7fu0cj_hp_relaxed.owl neural tube morphogenesis|neurulation Wikipedia:Neurulation GO:0001679 biological_process owl:Class GO:0035282 biolink:NamedThing segmentation The regionalization process that divides an organism or part of an organism into a series of semi-repetitive parts, or segments, often arranged along a longitudinal axis. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Segmentation_(biology) biological_process owl:Class HP:0032509 biolink:NamedThing Onychotillomania Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails. tmpxe7fu0cj_hp_relaxed.owl 2019-05-23 23:17:34+00:00 Onychotillomania is not to be confused with onychophagia which is self-induced damage to nails caused by nail biting. peter owl:Class CHEBI:38631 biolink:NamedThing aminoalkylindole tmpxe7fu0cj_hp_relaxed.owl aminoalkylindoles CHEBI:24792|CHEBI:22503 chebi_ontology owl:Class HP:0003205 biolink:NamedThing Curvilinear intracellular accumulation of autofluorescent lipopigment storage material An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern. tmpxe7fu0cj_hp_relaxed.owl Intracellular curvilinear profiles on ultrastructural analysis|'curvilinear profiles' ultrastructurally|'Curvilinear profiles' ultrastructurally in cells|Curvilinear profiles ultrastructurally UMLS:C1836852 human_phenotype owl:Class HP:0008647 biolink:NamedThing Pubertal developmental failure in females tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024649 human_phenotype owl:Class HP:0008197 biolink:NamedThing Absence of pubertal development tmpxe7fu0cj_hp_relaxed.owl UMLS:C1846228 human_phenotype owl:Class HP:4000056 biolink:NamedThing Abnormal apoptosis Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 21:53:27+00:00 robinp owl:Class HP:0034120 biolink:NamedThing Anti-GD1a IgM antibody positivity The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:41:10+00:00 peter owl:Class HP:0032932 biolink:NamedThing Increased circulating pancreatic triacylglycerol lipase level An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma). tmpxe7fu0cj_hp_relaxed.owl Elevated circulating pancreatic triacylglycerol lipase activity Acute pancreatitis is the main reason for an increase in lipase, although a number of other conditions such as chronic pancreatitis, acute cholecystitis, and bowel obstruction can increase lipase activity. In acute pancreatitis, serum lipase levels usually rise within 4 to 8 hours, peak at 24 hours, and decrease to normal or near normal levels over the next 8 to 14 days. Serum lipase remains elevated for a longer period of time compared to the period of elevation of serum amylase after acute pancreatitis. A common threshold used is three times the normal limit. peter owl:Class HP:0032894 biolink:NamedThing Seizure precipitated by febrile infection Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. tmpxe7fu0cj_hp_relaxed.owl Fever induced seizure Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. peter owl:Class HP:0030531 biolink:NamedThing Altitudinal visual field defect tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073005 owl:Class HP:0031209 biolink:NamedThing Decreased circulating lipoprotein lipase concentration Reduction in the level of lipoprotein lipase in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased lipoprotein lipase level 2017-07-02 10:57:10+00:00 Decreased plasma lipoprotein lipase activity is associated with delayed clearance of triglyceride-rich lipoproteins and low fasting HDL cholesterol. peter owl:Class HP:0033477 biolink:NamedThing Abnormal circulating lipoprotein lipase concentration A deviation from the normal concentration of lipoprotein lipase in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:55:35+00:00 Lipoprotein lipase (LPL) is an extracellular enzyme on the vascular endothelial surface that degrades circulating triglycerides in the bloodstream. These triglycerides are embedded in very low-density lipoproteins (VLDL) and in chylomicrons that travel through the bloodstream. peter owl:Class HP:0008297 biolink:NamedThing Transient hyperphenylalaninemia A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine). tmpxe7fu0cj_hp_relaxed.owl UMLS:C0268464|SNOMEDCT_US:28575006 human_phenotype owl:Class HP:0003102 biolink:NamedThing Increased carrying angle An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855478 Anatomically, the carrying angle in human adults is approximately 10 degrees in men and 13 degrees in women. Increasing the carrying angle may lead to elbow instability and pain during exercise or in throwing activities of sports, may reduce function of elbow flexion, predispose to risk of elbow dislocation, and increase evidence of elbow fracture when falling on the outstretched hand and fracture of the distal humeral epiphysis. human_phenotype owl:Class CHEBI:85425 biolink:NamedThing glycine transporter inhibitor Any substance that inhibits the action of glycine transporters. tmpxe7fu0cj_hp_relaxed.owl glycine transporter inhibitors chebi_ontology owl:Class HP:0100346 biolink:NamedThing Fibular deviation of the 5th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022134 doelkens 2010-11-11T03:44:27Z human_phenotype owl:Class GO:0036385 biolink:NamedThing nucleoid DNA packaging Any process in which DNA and associated proteins are formed into a compact, orderly structure within a nucleoid. tmpxe7fu0cj_hp_relaxed.owl bf 2013-05-30T10:36:05Z biological_process owl:Class HP:0025387 biolink:NamedThing Pill-rolling tremor A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other. tmpxe7fu0cj_hp_relaxed.owl Pill rolling 2017-04-21 12:11:32+00:00 The name pill rolling derives from the movements that pharmacists made in earlier times when making pills by rolling them together. HPO:probinson owl:Class HP:0002322 biolink:NamedThing Resting tremor A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. tmpxe7fu0cj_hp_relaxed.owl Rest tremor|Tremor at rest|Parkinsonian tremor|Resting tremor MSH:D014202|SNOMEDCT_US:25082004|UMLS:C0234379 Resting tremor vanishes with active movement, but typically reappears after a few seconds when the arms are held outstretched (reemergent tremor). In Parkinson disease, rest tremor frequency is usually in the low to mid-range (3-6 Hz), and the amplitude is quite variable, from less than 1 cm to over 10 cm in width. human_phenotype owl:Class GO:0015837 biolink:NamedThing amine transport The directed movement of amines, including polyamines, organic compounds containing one or more amino groups, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl amine/polyamine transport biological_process owl:Class NBO:0000589 biolink:NamedThing tremor "An involuntary rhythmical, oscillatory movement of a body part." [NBO:GVG] HP:0001337|MP:0000745 tmpxe7fu0cj_hp_relaxed.owl trembling|quivering|shivering 2011-04-14T11:13:39Z George Gkoutos behavior_ontology owl:Class HP:0008459 biolink:NamedThing Cervical vertebral agenesis Agenesis of one or more vertebrae of the cervical vertebral column. tmpxe7fu0cj_hp_relaxed.owl Missing cervical vertebrae|Cervical vertebrae agenesis SNOMEDCT_US:91880006|UMLS:C0432160|MSH:C562952 human_phenotype owl:Class HP:0009879 biolink:NamedThing Simplified gyral pattern An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. tmpxe7fu0cj_hp_relaxed.owl Cortical gyral simplification UMLS:C2749675 2009-03-28T06:23:59Z human_phenotype owl:Class HP:0012327 biolink:NamedThing Celiac artery compression Compression of the celiac artery. tmpxe7fu0cj_hp_relaxed.owl Coeliac artery compression|Dunbar syndrome|Celiac axis syndrome|Coeliac axis syndrome|Median arcuate ligament syndrome UMLS:C4020693|SNOMEDCT_US:9250002|UMLS:C0152098 This feature may be characterized by abdominal pain related to compression of the celiac artery by fibers of the median arcuate ligament. peter 2013-08-12T08:49:18Z human_phenotype owl:Class HP:0012326 biolink:NamedThing Abnormal celiac artery morphology An anomaly of the celiac artery. tmpxe7fu0cj_hp_relaxed.owl Abnormal coeliac artery morphology|Abnormality of the coeliac artery|Abnormality of the celiac artery UMLS:C4022954 The celiac artery (celiac trunk or truncus coeliacus) is the first major branch of the abdominal aorta. peter 2013-08-12T08:47:21Z owl:Class UBERON:0004445 biolink:NamedThing proximal epiphysis of proximal phalanx of manual digit 1 A proximal epiphysis that is part of a proximal phalanx of manual digit 1 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal epiphysis of proximal phalanx of manual digit I|basal epiphysis of proximal phalanx of thumb|base of proximal phalanx of thumb|proximal epiphysis of proximal phalanx of thumb FMA:37490 uberon owl:Class HP:0000659 biolink:NamedThing Peters anomaly A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:204153003|UMLS:C0344559|MSH:C537884 human_phenotype owl:Class CHEBI:27162 biolink:NamedThing tryptamines Tryptamine and its substitution derivatives. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0025520 biolink:NamedThing Calcinosis cutis Deposition of calcium in the skin. tmpxe7fu0cj_hp_relaxed.owl Cutaneous calcification 2017-05-17 22:39:47+00:00 The lesions observed incalcinosis cutis are firm papules, plaues, or nodules that have a whitish or yellowish color. Lesions may be solitary but it is more common to observe multiple lesions. The lesions may develop ulceration with a discharge of a chalk-like substance. The lesions can be painful, espcially if they are located on the fingertips. Lesions at other sites may limit joint mobility or stiffen the skin. HPO:probinson owl:Class HP:0030445 biolink:NamedThing Pulmonary carcinoid tumor A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma. tmpxe7fu0cj_hp_relaxed.owl Lung carcinoid tumor|Pulmonary carcinoid tumour|Lung carcinoid tumour SNOMEDCT_US:254627002|UMLS:C0280089 owl:Class HP:0030067 biolink:NamedThing Peripheral primitive neuroectodermal neoplasm A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone. tmpxe7fu0cj_hp_relaxed.owl MSH:D018241|SNOMEDCT_US:253096008|UMLS:C0684337|SNOMEDCT_US:73676002|SNOMEDCT_US:703707001 owl:Class HP:0025060 biolink:NamedThing Multifocal splenic abscess Multiple abscess lesions in the spleen. tmpxe7fu0cj_hp_relaxed.owl Multilocular splenic abscess 2016-09-26 09:19:25+00:00 HPO:probinson owl:Class CHEBI:25355 biolink:NamedThing mitochondrial respiratory-chain inhibitor tmpxe7fu0cj_hp_relaxed.owl mitochondrial electron transport chain inhibitors|mitochondrial electron-transport chain inhibitor|mitochondrial respiratory chain inhibitors chebi_ontology owl:Class CHEBI:38497 biolink:NamedThing respiratory-chain inhibitor tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:64577 biolink:NamedThing flour treatment agent A food additive which is added to flour or dough to improve baking quality and/or colour. tmpxe7fu0cj_hp_relaxed.owl dough improver|improving agents|improving agent|dough improvers|flour treatment agent Wikipedia:Flour_treatment_agent chebi_ontology owl:Class HP:0001579 biolink:NamedThing Primary hypercortisolism Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol. tmpxe7fu0cj_hp_relaxed.owl ACTH-independent hypercortisolemia UMLS:C1968852|UMLS:C4025760 human_phenotype owl:Class HP:0410298 biolink:NamedThing Partial absence of specific antibody response to hepatitis B vaccine A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 22:02:55+00:00 owl:Class HP:0031797 biolink:NamedThing Clinical course The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. tmpxe7fu0cj_hp_relaxed.owl Natural history of disease 2018-02-25 14:55:46+00:00 peter owl:Class HP:0030640 biolink:NamedThing Complete congenital stationary night blindness tmpxe7fu0cj_hp_relaxed.owl UMLS:C4048798 owl:Class HP:0030638 biolink:NamedThing Congenital stationary night blindness with normal fundus tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073105 owl:Class HP:0200013 biolink:NamedThing Neoplasm of fatty tissue A tumor (abnormal growth of tissue) of adipose tissue. tmpxe7fu0cj_hp_relaxed.owl Tumor of fatty tissue|Tumour of fatty tissue UMLS:C4021901|NCIT:C3262 sebastiankohler 2010-06-10T09:37:17Z owl:Class HP:0100663 biolink:NamedThing Synotia A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:77471004|UMLS:C0266677 doelkens 2010-12-30T01:00:36Z human_phenotype owl:Class HP:0031106 biolink:NamedThing T-shaped uterus An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging. tmpxe7fu0cj_hp_relaxed.owl 2017-05-30 02:53:49+00:00 peter owl:Class HP:0040267 biolink:NamedThing Distal upper limb muscle hypertrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280685 owl:Class HP:0040265 biolink:NamedThing Upper limb muscle hypertrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280687 owl:Class HP:0200066 biolink:NamedThing Ribbonlike corneal degeneration tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021894 sebastiankohler 2013-05-31T01:31:04Z human_phenotype owl:Class UBERON:0001512 biolink:NamedThing skin of ankle A zone of skin that is part of an ankle [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl ankle zone of skin|zone of skin of ankle|tarsal region skin|ankle skin UMLS:C0222286|MA:0000641|EMAPA:37353|NCIT:C52751|FMA:37831 uberon owl:Class PATO:0001883 biolink:NamedThing clavate A concave 3-D shape quality inhering in a bearer by virtue of the bearer's gradually becoming thicker towards the end. tmpxe7fu0cj_hp_relaxed.owl club-like|club-shaped|clubbed PATO:0001797 quality owl:Class HP:0008496 biolink:NamedThing Multiple rows of eyelashes tmpxe7fu0cj_hp_relaxed.owl Extra rows of eyelashes|Multiple rows of eyelashes|Double row of eyelashes|Two rows of eyelashes UMLS:C0423848|SNOMEDCT_US:95339000|UMLS:C3550336 human_phenotype owl:Class HP:0031370 biolink:NamedThing Small intestinal perforation A hole (perforation) in the wall of the small intestine. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 01:30:46+00:00 peter owl:Class HP:0032990 biolink:NamedThing Localized pulmonary hemorrhage Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder. tmpxe7fu0cj_hp_relaxed.owl Localised pulmonary haemorrhage peter owl:Class CHEBI:23044 biolink:NamedThing carotenoid tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0001241 biolink:NamedThing Capitate-hamate fusion tmpxe7fu0cj_hp_relaxed.owl Capitate-hamate fusions|Fused capitate and hamate|Fusion of capitate and hamate|Fusion of hamate and capitate UMLS:C1857002 human_phenotype owl:Class HP:0003393 biolink:NamedThing Thenar muscle atrophy Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb. tmpxe7fu0cj_hp_relaxed.owl Thenar atrophy UMLS:C1864715 owl:Class HP:0034049 biolink:NamedThing Elevated urinary prostaglandin E2 level An increased amount of prostaglandin E2 in the urine. tmpxe7fu0cj_hp_relaxed.owl Elevated urinary PGE2 level 2021-10-19 16:53:41+00:00 peter owl:Class HP:0040194 biolink:NamedThing Increased head circumference An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. tmpxe7fu0cj_hp_relaxed.owl Increased head circumference UMLS:C4083076 owl:Class GO:0010658 biolink:NamedThing striated muscle cell apoptotic process A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle a striated muscle cell and result in its death. Striated muscle cells make up striated muscle fibers which are divided by transverse bands into striations. tmpxe7fu0cj_hp_relaxed.owl striated muscle cell apoptosis biological_process owl:Class HP:0030654 biolink:NamedThing Umbilical cord cyst Any cystic lesion associated with the umbilical cord. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073114 Umbilical cord cysts can be single or multiple. Most usually, a solitary umbilical cyst is observed. They can be classified as (i) true cysts if they have an epithelial lining (allentoic cyst or omphalomesenteric duct cyst) or false cysts if they do not have an epithelial lining (umbilical cord pseudocyst). owl:Class HP:0007482 biolink:NamedThing Generalized papillary lesions tmpxe7fu0cj_hp_relaxed.owl Generalised papillary lesions UMLS:C4024865 owl:Class HP:0031189 biolink:NamedThing Wrist drop A condition in which the affected individual cannot extend the wrist, which hangs flaccidly. tmpxe7fu0cj_hp_relaxed.owl 2017-06-24 13:25:58+00:00 Wrist drop can be caused by radial nerve palsy. peter owl:Class HP:0010497 biolink:NamedThing Sirenomelia A developmental defect in which the legs are fused together. tmpxe7fu0cj_hp_relaxed.owl Sympodia SNOMEDCT_US:67254002|SNOMEDCT_US:91089008|SNOMEDCT_US:253191000|MEDDRA:10049216|MSH:D004480|UMLS:C0037205 peter 2009-09-17T11:11:10Z human_phenotype owl:Class HP:0007375 biolink:NamedThing Abnormality of the septum pellucidum An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024894 peter 2008-04-01T10:48:00Z human_phenotype owl:Class GO:0002735 biolink:NamedThing positive regulation of myeloid dendritic cell cytokine production Any process that activates or increases the frequency, rate, or extent of myeloid dendritic cell cytokine production. tmpxe7fu0cj_hp_relaxed.owl stimulation of myeloid dendritic cell cytokine production|activation of myeloid dendritic cell cytokine production|up-regulation of myeloid dendritic cell cytokine production|up regulation of myeloid dendritic cell cytokine production|upregulation of myeloid dendritic cell cytokine production biological_process owl:Class HP:0100248 biolink:NamedThing Hemiballismus Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements. tmpxe7fu0cj_hp_relaxed.owl Ballismus SNOMEDCT_US:66637005|MSH:D020820|UMLS:C0221169 Hemiballismus is a very rare movement disorder. It is five hundred times rarer than Parkinson disease. Its effects can sometimes be severe enough to prevent patients from being able to perform daily functions. It is usually associated with structural brain lesions but can occur with metabolic abnormalities. The symptoms can also decrease while the patient is asleep, unlike some movement disorders. Ballism refers to very large-amplitude choreic movements of the proximal parts of the limbs, causing flinging and flailing limb movements. Ballism is most frequently unilateral, in which case it is referred to as hemiballism doelkens 2010-07-09T12:21:41Z owl:Class UBERON:0035552 biolink:NamedThing deep vein A blood vessel carrying deoxygenated blood far beneath the skin usually accompanying an artery. tmpxe7fu0cj_hp_relaxed.owl deep veins|deep vessels SCTID:341484008|NCIT:C32444|Wikipedia:Deep_vein|FMA:76718|UMLS:C0226514 uberon owl:Class HP:0033143 biolink:NamedThing Jejunitis Inflammation of the lining of the middle section of the small intestine. tmpxe7fu0cj_hp_relaxed.owl 2020-09-15 10:25:52+00:00 peter owl:Class HP:0005265 biolink:NamedThing Abnormal jejunum morphology An abnormality of the jejunum, i.e., of the middle section of the small intestine. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the jejunum UMLS:C4025224 peter 2008-03-26T04:44:00Z owl:Class HP:0020120 biolink:NamedThing Retinal nerve fiber edema Swelling (edema) of the retinal nerve fibers. tmpxe7fu0cj_hp_relaxed.owl Retinal nerve fibre oedema robinp 2019-07-02 16:39:25+00:00 owl:Class UBERON:0016413 biolink:NamedThing medullary cavity of long bone tmpxe7fu0cj_hp_relaxed.owl central medullary cavity of long bone FMA:24023 uberon owl:Class UBERON:0002484 biolink:NamedThing bone marrow cavity The medullary cavities of the bones where bone marrow is stored. tmpxe7fu0cj_hp_relaxed.owl cavity of cancellous bone|medullary cavity|marrow cavity MA:0002783|FMA:83698|FMA:75147 uberon owl:Class Located in the main shaft (cortical bone) of a long bone (diaphysis) (consisting mostly of compact bone), the medullary cavity has walls composed of spongy bone (cancellous bone) and is lined with a thin, vascular membrane (endosteum)[Wikipedia:Bone_marrow_of_ovaryry_cavity] not clear if the FMA intends to have two classes. MP:0000065: 'the medullary cavities of the bones.'. NCITA also has 'medullary bone' GO:0051352 biolink:NamedThing negative regulation of ligase activity Any process that stops or reduces the rate of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. tmpxe7fu0cj_hp_relaxed.owl downregulation of ligase activity|down regulation of ligase activity|inhibition of ligase activity|down-regulation of ligase activity|ligase inhibitor biological_process owl:Class UBERON:0008229 biolink:NamedThing craniocervical region musculature Musculature system of the pharyngeal and head regions. tmpxe7fu0cj_hp_relaxed.owl head or neck muscle|head muscles ZFA:0000328|EMAPA:37259|TAO:0000328|MA:0000571 uberon owl:Class in MA this is restricted to skeletal muscles HP:0007548 biolink:NamedThing Palmoplantar keratosis with erythema and scale tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843294 human_phenotype owl:Class HP:0032882 biolink:NamedThing Focal impaired awareness cognitive seizure with deja vu/jamais vu A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0008664 biolink:NamedThing Urethral sphincter sclerosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024643 human_phenotype owl:Class HP:0000453 biolink:NamedThing Choanal atresia Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. tmpxe7fu0cj_hp_relaxed.owl Blockage of the rear opening of the nasal cavity SNOMEDCT_US:204508009|UMLS:C0008297|MSH:D002754|Fyler:4203 HP:0004496|HP:0000416|HP:0004503 owl:Class HP:0033602 biolink:NamedThing Glomerular hyaline subepithelial deposits A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 14:54:52+00:00 peter owl:Class UBERON:0001228 biolink:NamedThing renal papilla Tip of renal pyramid projecting into a minor calyx. tmpxe7fu0cj_hp_relaxed.owl kidney papilla MESH:D007679|NCIT:C33460|FMA:15622|EMAPA:35727|MA:0002730|galen:RenalPapilla|BTO:0003925|UMLS:C0022666 Kidney:PioM.png uberon owl:Class HP:0005429 biolink:NamedThing Recurrent systemic pyogenic infections Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025196 human_phenotype owl:Class HP:0033536 biolink:NamedThing Reduced platelet alpha granules A reduced number of platelet alpha granules. tmpxe7fu0cj_hp_relaxed.owl 2021-01-15 13:05:30+00:00 peter owl:Class HP:0032568 biolink:NamedThing Urinary mulberry cells Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance. tmpxe7fu0cj_hp_relaxed.owl 2019-06-19 10:42:15+00:00 See Figure 1 of PMID:28593486. peter owl:Class HP:0008165 biolink:NamedThing Decreased helper T cell proportion Reduced proportion of helper T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Decreased proportion circulating T-helper cells|Reduced helper T cell proportion UMLS:C4024723 human_phenotype owl:Class GO:0071242 biolink:NamedThing cellular response to ammonium ion Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ammonium stimulus. tmpxe7fu0cj_hp_relaxed.owl cellular response to ammonia mah 2009-12-03T02:39:40Z GO:1903718 biological_process owl:Class HP:0002318 biolink:NamedThing Cervical myelopathy tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:202664003|UMLS:C0149645 human_phenotype owl:Class HP:0002196 biolink:NamedThing Myelopathy tmpxe7fu0cj_hp_relaxed.owl MSH:D013118|SNOMEDCT_US:48522003|UMLS:C0037928 human_phenotype owl:Class HP:0032009 biolink:NamedThing Infantile constant exotropia Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities. tmpxe7fu0cj_hp_relaxed.owl Infantile (constant) exotropia 2018-07-22 15:37:33+00:00 Typically infantile constant exotropia suggests presentation at 6 months of age or younger, while basic constant exotropia suggests later presentation (older than 6-12 months). (OHO 745 & 750). peter owl:Class NCBITaxon:1338369 biolink:NamedThing Dipnotetrapodomorpha tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0008442 biolink:NamedThing Vertebral hyperostosis Excessive growth of the bones of the vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1834057 human_phenotype owl:Class HP:0100774 biolink:NamedThing Hyperostosis Excessive growth or abnormal thickening of bone tissue. tmpxe7fu0cj_hp_relaxed.owl Bone Hypertrophy|Bone overgrowth SNOMEDCT_US:13814009|MSH:D015576|SNOMEDCT_US:203514008|UMLS:C0020492 Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). doelkens 2011-06-07T05:17:19Z human_phenotype owl:Class HP:0100945 biolink:NamedThing Sclerosis of the 1st metatarsal tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the 1st long bone of foot UMLS:C4021913 human_phenotype owl:Class HP:0031670 biolink:NamedThing Continuous heart murmur A murmur that occurs in both systole and diastole. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 16:23:25+00:00 Continuous murmurs are related to pressure gradients that persist across systole and diastole. A classic example is the murmur related to patent ductus arteriosus. peter owl:Class HP:0030148 biolink:NamedThing Heart murmur An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. tmpxe7fu0cj_hp_relaxed.owl Heart murmurs|Heart murmur|Cardiac murmurs|Cardiac murmur SNOMEDCT_US:414786004|SNOMEDCT_US:421493004|MSH:D006337|SNOMEDCT_US:88610006|UMLS:C0018808 Heart murmurs can be appreciated by auscultation of the heart by stethoscope. Murmurs can be further categorized by intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc). owl:Class HP:0410283 biolink:NamedThing Positive blood acetaminophen test Detection of acetaminophen in the blood. tmpxe7fu0cj_hp_relaxed.owl Positive blood Tylenol test|Positive blood paracetamol test 2018-12-04 01:44:23+00:00 owl:Class HP:0012714 biolink:NamedThing Severe hearing impairment A severe form of hearing impairment. tmpxe7fu0cj_hp_relaxed.owl Severe deafness|Severe hearing impairment|Severe hearing loss UMLS:C3874334|SNOMEDCT_US:3561000119106 peter 2014-03-23T12:37:33Z human_phenotype owl:Class HP:0006368 biolink:NamedThing Forearm reduction defects tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849327 human_phenotype owl:Class HP:0032458 biolink:NamedThing Narrowing of medullary canal A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located. tmpxe7fu0cj_hp_relaxed.owl Narrowing of bone marrow canal|Narrowing of the marrow cavity|Narrowing of bone medullary canal|Medullary cavity obliteration 2019-03-09 17:27:09+00:00 peter owl:Class HP:0008371 biolink:NamedThing Abnormal metatarsal ossification Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years. tmpxe7fu0cj_hp_relaxed.owl Abnormal ossification involving metatarsal bones|Abnormal maturation of long bone of foot UMLS:C4021543 peter 2008-04-04T11:59:00Z human_phenotype owl:Class HP:0010675 biolink:NamedThing Abnormal foot bone ossification An abnormality of the formation and mineralization of any bone of the skeleton of foot. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the mineralisation and ossification of bones of the feet|Abnormal maturation of foot bones|Abnormal ossification involving bones of the feet UMLS:C4021241|UMLS:C4020768|UMLS:C4280367 sandra1 2010-02-28T05:27:47Z HP:0009133|HP:0008370 human_phenotype owl:Class HP:0100020 biolink:NamedThing Posterior capsular cataract A cataract which is found in the back outer layer of the lens. This type often develops more rapidly. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022388 doelkens 2010-05-28T11:36:49Z human_phenotype owl:Class HP:0100017 biolink:NamedThing Capsular cataract A cataract that affects the capsule of the lens. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:204125003|UMLS:C0339352 doelkens 2010-05-27T06:01:54Z human_phenotype owl:Class HP:0011668 biolink:NamedThing Bilateral superior vena cava with no bridging vein tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023239 peter 2012-04-09T12:01:33Z owl:Class HP:0005439 biolink:NamedThing Maxillozygomatic hypoplasia Hypoplasia of the maxillozygomatic complex. tmpxe7fu0cj_hp_relaxed.owl Decreased size of zygomaticomaxillary bone complex|Hypoplasia of malar bone complex|Deficiency of zygomaticomaxillary bone complex|Hypoplasia of zygomaticomaxillary complex|Underdevelopment of zygomaticomaxillary bone complex|Decreased projection of zygomaticomaxillary bone complex UMLS:C1848908|UMLS:C4280488 human_phenotype owl:Class CHEBI:88184 biolink:NamedThing metal allergen Any metal which causes the onset of an allergic reaction. tmpxe7fu0cj_hp_relaxed.owl allergenic metals|metal allergens|allergenic metal chebi_ontology owl:Class HP:0007534 biolink:NamedThing Congenital posterior occipital alopecia Loss of hair in the occipital region of the scalp with congenital onset. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024850 human_phenotype owl:Class HP:0011887 biolink:NamedThing Choroid hemorrhage Hemorrhage from the vessels of the choroid. tmpxe7fu0cj_hp_relaxed.owl Choroid haemorrhage|Choroidal haemorrhage|Choroidal hemorrhage UMLS:C0008522|MSH:D002832|SNOMEDCT_US:122003 peter 2012-06-02T10:50:39Z human_phenotype owl:Class HP:0020058 biolink:NamedThing Abnormal red blood cell count Any deviation from the normal number of red blood cells per volume in the circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal RBC count 2018-09-28 23:44:47+00:00 robinp owl:Class HP:0008062 biolink:NamedThing Aplasia/Hypoplasia affecting the anterior segment of the eye Absence or underdevelopment of the anterior segment of the eye. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024739 peter 2008-04-02T03:33:00Z human_phenotype owl:Class HP:0032035 biolink:NamedThing Lower eyelid laxity Abnormally lax lower eyelid associated with tissue relaxation. tmpxe7fu0cj_hp_relaxed.owl 2018-09-01 14:53:46+00:00 peter owl:Class HP:0032420 biolink:NamedThing Increased HDL2a concentration An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:40:40+00:00 peter owl:Class HP:0032419 biolink:NamedThing Abnormal HDL2a concentration Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:30:55+00:00 peter owl:Class HP:0031668 biolink:NamedThing Diastolic heart murmur A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 16:21:15+00:00 Diastolic murmurs always signify structural heart disease. peter owl:Class HP:0000647 biolink:NamedThing Sclerocornea A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. tmpxe7fu0cj_hp_relaxed.owl Hardening of skin and connective tissue MSH:C565209|UMLS:C1853235 human_phenotype owl:Class GO:0016746 biolink:NamedThing acyltransferase activity Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor). tmpxe7fu0cj_hp_relaxed.owl transferase activity, transferring acyl groups https://github.com/geneontology/go-ontology/issues/20486 Reactome:R-HSA-6792572|Reactome:R-HSA-159431|EC:2.3.-.-|Reactome:R-HSA-193491|Reactome:R-HSA-192312|Reactome:R-HSA-8858298 GO:0008415 molecular_function owl:Class CHEBI:64584 biolink:NamedThing uremic toxin A toxin that accumulates in patients with chronic kidney disease. tmpxe7fu0cj_hp_relaxed.owl uremic toxins Wikipedia:Uremic_toxin chebi_ontology owl:Class HP:0033618 biolink:NamedThing Displaced lobar tracheal bronchus Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus. tmpxe7fu0cj_hp_relaxed.owl Bronchus suis|Pig bronchus 2021-01-30 22:35:48+00:00 peter owl:Class HP:0033614 biolink:NamedThing Tracheal bronchus Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 22:30:23+00:00 peter owl:Class HP:0410330 biolink:NamedThing Meat allergen allergy Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products. tmpxe7fu0cj_hp_relaxed.owl IgE-mediated meat allergen allergy|Immunoglobulin E-mediated meat allergen allergy|Meat allergy|Allergy to meat allergens|Meat allergen allergy owl:Class HP:0032232 biolink:NamedThing Increased circulating creatine kinase MB isoform An increased concentration of the MB isoform of creatine kinase in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased circulating CK MB isoform 2019-01-26 17:05:00+00:00 All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury. peter owl:Class HP:0006518 biolink:NamedThing Pulmonary venous occlusion Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition. tmpxe7fu0cj_hp_relaxed.owl Pulmonary venous occlusion|Pulmonary venous stenosis|Pulmonary venoocclusive disease UMLS:C4280802|UMLS:C0034091|SNOMEDCT_US:89420002|MSH:D011668|Fyler:3002 This feature can be observed by histological examination of lung tissue. The feature can be seen in pulmonary veno-occlusive disease (PVOD). PVOD is characterised by diffuse occlusion of the pulmonary veins by fibrous tissue, pulmonary venous congestion and associated complications including severe pulmonary hypertension (pHTN), non-cardiogenic pulmonary oedema, hypoxia and right-ventricular failure. Clinical presentation is typically non-specific, including dyspnoea, fatigue and cough. human_phenotype owl:Class UBERON:0014903 biolink:NamedThing primordial vasculature A portion of tissue that will develop into vasculature. tmpxe7fu0cj_hp_relaxed.owl TAO:0005076|EFO:0003708|ZFA:0005076 uberon owl:Class HP:0002217 biolink:NamedThing Slow-growing hair Hair whose growth is slower than normal. tmpxe7fu0cj_hp_relaxed.owl Slow-growing hair|Slow speed of hair growth|Slow growing hair|Slow rate of hair growth UMLS:C1832348 HP:0004767|HP:0004770|HP:0004781 human_phenotype owl:Class HP:0011363 biolink:NamedThing Abnormality of hair growth rate Hair whose growth rate deviates from the norm. tmpxe7fu0cj_hp_relaxed.owl Abnormality of pace of hair growth|Abnormality of hair growth rate|Abnormality of speed of hair growth UMLS:C4023396 Hair growth rate is normally about 1.25 centimeters per month. peter 2012-03-01T09:46:36Z human_phenotype owl:Class HP:0004625 biolink:NamedThing Biconvex vertebral bodies Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866675 Note that biconvex vertebral bodies can be a normal finding in newborns. human_phenotype owl:Class HP:0032824 biolink:NamedThing Neonatal focal tonic seizure Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032821 biolink:NamedThing Neonatal electro-clinical tonic seizure Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes. tmpxe7fu0cj_hp_relaxed.owl Usually focal, unilateral or bilateral asymmetric. Generalized tonic posturing is often not of epileptic origin. peter owl:Class HP:0030528 biolink:NamedThing Paracentral scotoma tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:64418005|UMLS:C0271197|MSH:D012607 owl:Class HP:0012005 biolink:NamedThing Deja vu aura A subjective feeling that an experience which is occurring for the first time has been experienced before. tmpxe7fu0cj_hp_relaxed.owl Deja vu SNOMEDCT_US:313005|UMLS:C0011194|MSH:D003690 hecht 2012-07-20T11:54:16Z owl:Class HP:0004603 biolink:NamedThing Hyperconvex vertebral body endplates tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025307 human_phenotype owl:Class GO:0050687 biolink:NamedThing negative regulation of defense response to virus Any process that stops, prevents or reduces the rate or extent of antiviral mechanisms, thereby facilitating viral replication. tmpxe7fu0cj_hp_relaxed.owl down regulation of antiviral response|negative regulation of antiviral response|inhibition of antiviral response|down-regulation of antiviral response|downregulation of antiviral response biological_process owl:Class UBERON:0001076 biolink:NamedThing neural spine An extension of a neural arches dorsal to the neural canal[TAO,modified]. tmpxe7fu0cj_hp_relaxed.owl processus spinosus vertebrae|processus spinosus|neural spines|vertebra spinous process|spinous process|spinous process of vertebra|neural spine|spine of verterba MA:0001455|FMA:11948|TAO:0001336|EMAPA:25107|NCIT:C116112|AAO:0000705|ZFA:0001336 http://upload.wikimedia.org/wikipedia/commons/4/48/Processusspinosusvertebrae.png uberon owl:Class Neural spines are extensions of neural arches dorsal to the neural canal in the median skeletogenous septum. Neural spines are typically unpaired median structures but can be paired in some instances, e.g., in the abdominal region of basal teleosts such as Leptolepis, Elops, Megalops, and Hiodon).[TAO]|Elaboration of the mid-dorsal keel into a posterior or posterolateral process.[AAO]|Small, posteriorly directed process at the posterior margin of each neural arch lamina; it is not a neural spine.[AAO] relationship loss: part_of mid-dorsal keel (AAO:0000735)[AAO] The spinous process of a vertebra is directed backward and downward from the junction of the laminae (in humans), and serves for the attachment of muscles and ligaments. In animals without an erect stance, the process points upward and may slant forward or backward. Spinous processes are exaggerated in some animals, such as the extinct Dimetrodon and Spinosaurus, where they form a sail- or finback. [Wikipedia:Spinous_process] CL:0000541 biolink:NamedThing melanoblast A cell that originates from the neural crest and differentiates into a pigment cell. tmpxe7fu0cj_hp_relaxed.owl BTO:0003217|FMA:83377 Derived from UBERON:0002342 neural crest. cell owl:Class HP:0032113 biolink:NamedThing Semidominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in the heterozygotes and homozygotes, with differing phenotype severity present dependent on the number of alleles affected. tmpxe7fu0cj_hp_relaxed.owl Semidominant mode of inheritance 2018-11-17 14:33:51+00:00 Familial hypercholesterolemia is an example of a disease with this inheritance pattern. peter owl:Class HP:0100352 biolink:NamedThing Contracture of the distal interphalangeal joint of the 2nd toe The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl Contracture of the distal interphalangeal joint of the second toe UMLS:C4021015 human_phenotype owl:Class UBERON:0002056 biolink:NamedThing inferior suprarenal artery Each renal artery gives off some small inferior suprarenal branches to the suprarenal gland, the ureter, and the surrounding cellular tissue and muscles. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl arteria suprarenalis inferior FMA:69264|EMAPA:37088|MA:0002056|NCIT:C52737|UMLS:C0226334 http://upload.wikimedia.org/wikipedia/commons/6/61/Gray1121.png uberon owl:Class HP:0012816 biolink:NamedThing Right ventricular noncompaction cardiomyopathy A predominantly right ventricular variant of isolated noncompaction cardiomyopathy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022714 hecht 2014-05-28T08:35:01Z human_phenotype owl:Class HP:0003121 biolink:NamedThing Limb joint contracture A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. tmpxe7fu0cj_hp_relaxed.owl Limb contractures UMLS:C1969879 HP:0005839|HP:0005631 owl:Class HP:0025690 biolink:NamedThing Fetal intra-abdominal umbilical vein varix Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age. tmpxe7fu0cj_hp_relaxed.owl FIUVV|Fetal umbilical vein dilatation peterrobinson owl:Class GO:0032966 biolink:NamedThing negative regulation of collagen biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. tmpxe7fu0cj_hp_relaxed.owl negative regulation of collagen synthesis|negative regulation of collagen formation|negative regulation of collagen biosynthesis|negative regulation of collagen anabolism biological_process owl:Class HP:0008702 biolink:NamedThing Absent internal genitalia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024637 human_phenotype owl:Class HP:0009211 biolink:NamedThing Small epiphysis of the middle phalanx of the 5th finger Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of the middle bone of the pinkie finger|Small end part of the middle bone of the pinky finger|Small end part of the middle bone of the little finger UMLS:C4024529 doelkens 2009-01-05T05:22:18Z human_phenotype owl:Class HP:0040059 biolink:NamedThing Calcification of ribs tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022461 HPO:skoehler owl:Class HP:0010541 biolink:NamedThing Cutis gyrata of scalp The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. tmpxe7fu0cj_hp_relaxed.owl Scalp furrows|Cutis verticis gyrata|Thickened folds on top of scalp|Furrows in thickened skin on top of scalp|Scalp folds|Thickening of the scalp UMLS:C4072877|UMLS:C4280378|UMLS:C0263417|SNOMEDCT_US:51603000 peter 2009-09-23T10:15:33Z human_phenotype owl:Class HP:0001739 biolink:NamedThing Abnormal nasopharynx morphology A structural anomaly of the nasopharynx. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the nasopharynx UMLS:C4025750 The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate. owl:Class UBERON:0005279 biolink:NamedThing nail bed of toe A nail bed that is part of a pedal digit. tmpxe7fu0cj_hp_relaxed.owl nail bed of toe FMA:60529 uberon owl:Class HP:0012390 biolink:NamedThing Anal fissure A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus. tmpxe7fu0cj_hp_relaxed.owl Anal erosion UMLS:C0016167|SNOMEDCT_US:30037006|SNOMEDCT_US:20928004|MSH:D005401 peter 2013-11-07T07:36:49Z human_phenotype owl:Class CL:0000771 biolink:NamedThing eosinophil Any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Eosinophils are CD9-positive, CD191-positive, and CD193-positive. tmpxe7fu0cj_hp_relaxed.owl polymorphonuclear leucocyte|eosinophilic granulocyte|eosinocyte|eosinophilic leucocyte|polymorphonuclear leukocyte|eosinophilic leukocyte BTO:0000399|FMA:62861|CALOHA:TS-0279 Eosinophils are also CD14-negative, CD32-positive, CD44-positive, CD48-positive, CD69-positive, CD192-negative, MBP1-positive, MBP2-positive, TLR2-negative, TLR4-negative, and lineage-negative (B220, CD2, CD14, CD19, CD56, CD71, CD117, CD123, CD235a (glycophorin A), and TER119). The cytokines IL-3, IL-5, and GM-CSF are involved in their development and differentiation. Usually considered CD16-negative, CD16 is observed on eosinophilic metamyelocyte. cell owl:Class UBERON:0017672 biolink:NamedThing abdominal viscera A viscus that is part of a abdomen. tmpxe7fu0cj_hp_relaxed.owl abdominal viscera set|abdominal viscera|set of abdominal viscera FMA:32413|FMA:67355 uberon owl:Class HP:0040057 biolink:NamedThing Abnormality of nasal hair tmpxe7fu0cj_hp_relaxed.owl Abnormality of nasal hair|Abnormality of nose hair UMLS:C4021858 HPO:skoehler owl:Class HP:0011586 biolink:NamedThing Thoracoabdominal ectopia cordis Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023283 In many cases, thoracicoabdominal ectopia cordis is characterized by partial absence or cleft of the sternum, deficiency of the anterior diaphragm, deficiency of the diaphragmatic pericardium, midline abdominal wall defect, and congenital intracardiac abnormalities. These five characteristics comprise the pentalogy of Cantrell. peter 2012-04-08T01:13:52Z human_phenotype owl:Class HP:0001683 biolink:NamedThing Ectopia cordis Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0013580|Fyler:0170|Fyler:170|SNOMEDCT_US:78250005|MSH:D054083 See Moss and Adams 'Heart Disease in Infants, Children and Adolescents' p1168. Ectopia cordis has a very poor prognosis. Ectopia cordis is generally divided into five types: cervical, cervicothoracic, thoracic, abdominal, and thoracicoabdominal. Ectopia cordis is rare (5-8 per million live births), but the two most common forms are thoracic (59%) and thoracicoabdominal (38%). owl:Class HP:0025097 biolink:NamedThing Eyelid myoclonus Marked, involuntary jerking of the eyelids. tmpxe7fu0cj_hp_relaxed.owl Blepharoclonus|Eyelid myoclonia 2016-10-28 05:55:32+00:00 Some literature refers to eyelid myoclonia as a disease entity (Jeavons syndrome) that is characterized by episodes of eyelid myoclonus with absences. HPO:probinson owl:Class HP:0033595 biolink:NamedThing Elevated circulating globotriaosylceramide concentration Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating ceramidetrihexoside concentration 2021-01-30 13:16:58+00:00 peter owl:Class GO:0014003 biolink:NamedThing oligodendrocyte development The process aimed at the progression of an oligodendrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. An oligodendrocyte is a type of glial cell involved in myelinating the axons in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl oligodendrocyte cell development biological_process owl:Class HP:0033765 biolink:NamedThing Death in late adulthood Death at an age of at least 60 years. tmpxe7fu0cj_hp_relaxed.owl 2021-04-30 11:21:09+00:00 peter owl:Class HP:0001087 biolink:NamedThing Developmental glaucoma Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma. tmpxe7fu0cj_hp_relaxed.owl Pediatric glaucoma|Infantile glaucoma|Paediatric glaucoma|Childhood glaucoma SNOMEDCT_US:413728006|UMLS:C0020302|SNOMEDCT_US:204113001|MSH:D006871 human_phenotype owl:Class GO:0045582 biolink:NamedThing positive regulation of T cell differentiation Any process that activates or increases the frequency, rate or extent of T cell differentiation. tmpxe7fu0cj_hp_relaxed.owl upregulation of T cell differentiation|up regulation of T cell differentiation|positive regulation of T cell development|activation of T cell differentiation|up-regulation of T cell differentiation|positive regulation of T lymphocyte differentiation|positive regulation of T-lymphocyte differentiation|positive regulation of T-cell differentiation|stimulation of T cell differentiation Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. biological_process owl:Class HP:0034053 biolink:NamedThing Decreased acid ceramidase activity tmpxe7fu0cj_hp_relaxed.owl 2021-11-24 11:39:17+00:00 Reduced activity of acid ceramidase (AC; alsoknown as N-acylsphingosine amidohydrolase; EC 3.5.1.23). The test is usually performed in cultured patient fibroblasts. peter owl:Class UBERON:0016520 biolink:NamedThing epithelium of female urethra An epithelium that is part of a female urethra. tmpxe7fu0cj_hp_relaxed.owl female urethral epithelium|urethral epithelium of female EMAPA:30470|FMA:19774 uberon owl:Class GO:0021583 biolink:NamedThing pons morphogenesis The process in which the anatomical structure of the pons is generated and organized. The pons lies above the medulla and next to the cerebellum. The pons conveys information about movement from the cerebral hemisphere to the cerebellum. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0033064 biolink:NamedThing Renal interstitial globotriaosylceramide inclusions Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). tmpxe7fu0cj_hp_relaxed.owl Fabry disease is a rare, progressive lysosomal disorder caused by mutations in the GLA gene. GLA encodes the homodimeric glycoprotein, alpha-galactosidase A, which acts in lysosomes to degrade globotriaosylceramide (GL-3) and its deacylated form, globotriaosylsphingosine (lyso-Gb3). In Fabry disease, the activity of alpha-galactosidase A is deficient or absent, leading to progressive accumulation of glycolipids, primarily GL-3 and lyso-Gb3, in the plasma and numerous cell types throughout the body. peter owl:Class HP:0100306 biolink:NamedThing Muscle fiber hyaline bodies tmpxe7fu0cj_hp_relaxed.owl Muscle fibre hyaline bodies UMLS:C4022155 doelkens 2010-08-10T02:49:13Z human_phenotype owl:Class HP:0012108 biolink:NamedThing Open angle glaucoma A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure, tmpxe7fu0cj_hp_relaxed.owl Primary open angle glaucoma UMLS:C0339573|SNOMEDCT_US:77075001|MSH:C562750 Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. peter 2012-09-10T05:17:24Z human_phenotype owl:Class HP:0000501 biolink:NamedThing Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. tmpxe7fu0cj_hp_relaxed.owl MSH:D005901|SNOMEDCT_US:23986001|UMLS:C0017601 The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. human_phenotype owl:Class HP:0011289 biolink:NamedThing EEG with temporal sharp slow waves EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023427 peter 2012-02-11T12:30:25Z human_phenotype owl:Class HP:0006573 biolink:NamedThing Acute hepatic steatosis An acute form of hepatic steatosis. tmpxe7fu0cj_hp_relaxed.owl Acute fatty liver UMLS:C4025020 human_phenotype owl:Class HP:0009897 biolink:NamedThing Horizontal crus of helix An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly. tmpxe7fu0cj_hp_relaxed.owl Railroad track ears|Horizontal orientation of the ear crus|Railroad track sign|Helix, crus, horizontal|Horizontal orientation of the crus of helix UMLS:C4021379 The term 'railroad track sign' has been used to describe prominent horizontal crus of the helix in combination with prominent and parallel inferior crus of the antihelix. It is preferable to simply describe each component separately. peter 2009-04-30T10:34:52Z owl:Class HP:0000933 biolink:NamedThing Posterior fossa cyst at the fourth ventricle tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025816 human_phenotype owl:Class HP:0007109 biolink:NamedThing Periventricular cysts tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839858 human_phenotype owl:Class HP:0200041 biolink:NamedThing Skin erosion A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. tmpxe7fu0cj_hp_relaxed.owl MEDDRA:10040840|SNOMEDCT_US:93448009|UMLS:C3887524 sebastiankohler 2010-06-18T02:15:51Z human_phenotype owl:Class HP:0031524 biolink:NamedThing Ampulla of Vater carcinoma A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct. tmpxe7fu0cj_hp_relaxed.owl 2017-09-23 02:03:06+00:00 peter owl:Class HP:0041061 biolink:NamedThing Fractured calcaneus A partial or complete breakage of the calcaneus. tmpxe7fu0cj_hp_relaxed.owl bone calcaneus owl:Class HP:0005208 biolink:NamedThing Secretory diarrhea Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. tmpxe7fu0cj_hp_relaxed.owl Secretory diarrhoea SNOMEDCT_US:15699003|UMLS:C0267557 owl:Class HP:0033172 biolink:NamedThing Increased triceps skinfold thickness Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased. tmpxe7fu0cj_hp_relaxed.owl 2020-09-24 10:29:17+00:00 peter owl:Class HP:0033171 biolink:NamedThing Abnormal triceps skinfold thickness Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. tmpxe7fu0cj_hp_relaxed.owl 2020-09-24 10:27:54+00:00 peter owl:Class GO:0008227 biolink:NamedThing G protein-coupled amine receptor activity Combining with an extracellular amine and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. tmpxe7fu0cj_hp_relaxed.owl amine receptor activity, G-protein coupled|G-protein coupled amine receptor activity|biogenic amine receptor molecular_function owl:Class HP:0011894 biolink:NamedThing Impaired thromboxane A2 agonist-induced platelet aggregation Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023141 peter 2012-06-03T08:51:33Z human_phenotype owl:Class HP:0003461 biolink:NamedThing Increased urinary O-linked sialopeptides Excretion of peptides conjugated to sialic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1836533 human_phenotype owl:Class HP:0012067 biolink:NamedThing Glycopeptiduria Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues. tmpxe7fu0cj_hp_relaxed.owl High urine glycopeptide levels UMLS:C4023061 This feature is often the result of a defect in glycosidase activate. Glycosidases catalyze the release of sugar moieties. hecht 2012-08-04T03:03:03Z human_phenotype owl:Class HP:0011427 biolink:NamedThing Enlarged fetal cisterna magna The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637). tmpxe7fu0cj_hp_relaxed.owl Enlarged foetal cisterna magna UMLS:C4023365 peter 2012-03-17T07:03:07Z owl:Class HP:0012284 biolink:NamedThing Small proximal tibial epiphyses Reduced size of the proximal epiphysis of the tibia. tmpxe7fu0cj_hp_relaxed.owl Small end part of innermost shankbone|Small end part of innermost shinbone UMLS:C4022969 peter 2013-04-09T07:36:38Z human_phenotype owl:Class UBERON:0003554 biolink:NamedThing hindbrain pia mater A pia mater that is part of a hindbrain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pia mater of hindbrain|hindbrain pia mater of neuraxis|pia mater of neuraxis of hindbrain|rhombencephalon pia mater VHOG:0000466|EMAPA:17786|MA:0000990|EHDAA2:0000772 uberon owl:Class Pia mater that is part of the hindbrain. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] HP:0008158 biolink:NamedThing Hyperapobetalipoproteinemia Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0020474|SNOMEDCT_US:238040008|MSH:D006950|SNOMEDCT_US:299465007 human_phenotype owl:Class UBERON:0001848 biolink:NamedThing auricular cartilage Cartilage of the pinna and much of the external ear canal. tmpxe7fu0cj_hp_relaxed.owl pinna cartilage|cartilage of pinna EMAPA:35158|MA:0001227|FMA:61013 uberon owl:Class HP:0500233 biolink:NamedThing Increased CSF alanine concentration Abnormally increased levels of alanine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High alanine levels in cerebrospinal fluid 2019-02-25 20:55:23+00:00 owl:Class HP:0500232 biolink:NamedThing Abnormal CSF alanine concentration Any deviation from the normal concentration of alanine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal alanine levels in cerebrospinal fluid 2019-02-25 20:53:52+00:00 owl:Class HP:0032915 biolink:NamedThing Focal aware vocal automatism seizure A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:1904266 biolink:NamedThing regulation of Schwann cell chemotaxis Any process that modulates the frequency, rate or extent of Schwann cell chemotaxis. tmpxe7fu0cj_hp_relaxed.owl sl 2015-05-28T17:47:41Z biological_process owl:Class HP:0030727 biolink:NamedThing Intracranial neurenteric cyst A neurenteric cyst located within the skull. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280680 owl:Class HP:0030725 biolink:NamedThing Neurenteric cyst The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:41353005|SNOMEDCT_US:253127008|MSH:D009436|UMLS:C0027806 Individuals diagnosed with neurenteric cysts most frequently present in the second and third decades of life with a male-to-female ratio of approximately 2:1. Moreover, in the pediatric population, 61.2 percent of patients found to have neurenteric cysts are male with a mean age of 6.4 years at presentation. The majority of adult patients with neurenteric cysts present with progressive focal pain at the level of spinal axis pathology, fluctuating myelopathic signs, or radicular symptoms. owl:Class HP:0007479 biolink:NamedThing Congenital nonbullous ichthyosiform erythroderma The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. tmpxe7fu0cj_hp_relaxed.owl Ichthyosis, congenital, nonblistering|Congenital non-bullous ichthyosis|Nonbullous congenital ichthyosis|Nonbullous congenital ichthyosiform erythroderma|Ichthyosis lammellaris|Congenital lamellar ichthyosis|Collodion baby UMLS:C0079154|MSH:D017490|SNOMEDCT_US:205550003|SNOMEDCT_US:267372009|SNOMEDCT_US:268245001 HP:0001021|HP:0007619|HP:0007388|HP:0007625|HP:0007512 human_phenotype owl:Class HP:0001927 biolink:NamedThing Acanthocytosis Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. tmpxe7fu0cj_hp_relaxed.owl Acanthocytes|Red cell acanthocytosis SNOMEDCT_US:250249008|UMLS:C0687751 HP:0005552 human_phenotype owl:Class HP:0031693 biolink:NamedThing Severe Epstein Barr virus infection An unusually severe Epstein Barr virus (EBV) infection. tmpxe7fu0cj_hp_relaxed.owl Severe EBV infection|Fulminant infectious mononucleosis 2017-12-17 22:35:16+00:00 peter owl:Class HP:0100785 biolink:NamedThing Insomnia Persistent difficulty initiating or maintaining sleep. tmpxe7fu0cj_hp_relaxed.owl Difficulty staying or falling asleep|Fragmented sleep SNOMEDCT_US:193462001|MSH:D007319|UMLS:C0917801 doelkens 2011-06-07T06:14:22Z owl:Class GO:0048745 biolink:NamedThing smooth muscle tissue development The process whose specific outcome is the progression of smooth muscle over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0006108 biolink:NamedThing Tapered metacarpals Metacarpal that becomes thinner toward the distal end. tmpxe7fu0cj_hp_relaxed.owl Tapered long bones of hand UMLS:C4025091 human_phenotype owl:Class HP:0031287 biolink:NamedThing Seborrheic keratosis A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look. tmpxe7fu0cj_hp_relaxed.owl Basal cell papilloma|Seborrheic verruca|Senile wart 2017-08-13 20:33:04+00:00 Seborrheic keratosis is a benign lesion of the skin that occurs more frequently in sunlight exposed areas. The lesions can appear anywhere on the body, but most often occur on the face, chest, and back. There may be just one or clusters of dozens. peter owl:Class HP:0410228 biolink:NamedThing Increased anti-plant based food allergen IgE antibody level Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits. tmpxe7fu0cj_hp_relaxed.owl Increased level of anti-plant based food allergen IgE antibody 2018-10-03 21:28:37+00:00 owl:Class HP:0011634 biolink:NamedThing Partial left sided absence of pericardium A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023255 A congenital anomaly and not the result of a pericardectomy. peter 2012-04-08T10:11:59Z human_phenotype owl:Class PATO:0002042 biolink:NamedThing decreased anterior-posterior diameter An anterior-posterior diameter quality which is relatively small. tmpxe7fu0cj_hp_relaxed.owl low anterior-posterior diameter quality owl:Class HP:0033709 biolink:NamedThing Increased sputum production An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway). tmpxe7fu0cj_hp_relaxed.owl Increased phlegm 2021-03-31 12:40:14+00:00 If excessive sputum production is manifested by frequent and often involuntary coughing, the HPO term Productive cough should be used. peter owl:Class HP:0002293 biolink:NamedThing Alopecia of scalp tmpxe7fu0cj_hp_relaxed.owl Absence of scalp hair|Baldness|Missing scalp hair|Pathologic hair loss from scalp|Scalp hair loss SNOMEDCT_US:298000004|UMLS:C0002170|SNOMEDCT_US:56317004|MSH:D000505|SNOMEDCT_US:278040002|UMLS:C0574769|UMLS:C1850535 HP:0200115 owl:Class HP:0007704 biolink:NamedThing Paroxysmal involuntary eye movements Sudden-onset episode of abnormal, involuntary eye movements. tmpxe7fu0cj_hp_relaxed.owl Abnormal eye movements, paroxysmal UMLS:C1847515 human_phenotype owl:Class HP:0001644 biolink:NamedThing Dilated cardiomyopathy Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. tmpxe7fu0cj_hp_relaxed.owl DCM|Cardiomyopathy, dilated|Congestive cardiomyopathy|Stretched and thinned heart muscle UMLS:C0007193|Fyler:1843|MSH:D002311|SNOMEDCT_US:399020009|SNOMEDCT_US:195021004 HP:0001725|HP:0005159|HP:0200130 owl:Class HP:0012624 biolink:NamedThing Stage 2 chronic kidney disease A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). tmpxe7fu0cj_hp_relaxed.owl UMLS:C2316786|SNOMEDCT_US:431856006 peter 2014-01-17T01:22:13Z human_phenotype owl:Class HP:4000008 biolink:NamedThing Formation of multiple pronuclei during fertilization Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. tmpxe7fu0cj_hp_relaxed.owl 2021-04-25 23:27:41+00:00 Three pro-nuclei (3PN) prevalence among all pregnancies has been estimated to be approximately 1% to 3%, whereas it accounts for 15% to 18% of cytogenetically abnormal cases among spontaneous abortions. robinp owl:Class GO:0002471 biolink:NamedThing monocyte antigen processing and presentation The process in which a monocyte expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0014677 biolink:NamedThing distal interphalangeal joint of digit 2 A distal interphalangeal joint that is part of a digit 2. tmpxe7fu0cj_hp_relaxed.owl distal interphalangeal joint 2|distal interphalangeal joint of digit II NCIT:C102291 check whether NCITA classes belong with hand or generic autopod uberon owl:Class HP:0004897 biolink:NamedThing Stress/infection-induced lactic acidosis A form of lactic acidemia that occurs in relation to stress or infection. tmpxe7fu0cj_hp_relaxed.owl Metabolic crises during febrile infections UMLS:C4025278 owl:Class PR:000045358 biolink:NamedThing insulin family protein A protein that is a translation product of a gene that encodes a standalone Insulin (Pfam:PF00049) domain preceded by a signal peptide. tmpxe7fu0cj_hp_relaxed.owl fam:INS Category=family. protein owl:Class HP:0031155 biolink:NamedThing Increased Arden ratio of electrooculogram An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. tmpxe7fu0cj_hp_relaxed.owl Increased Arden ratio of EOG 2017-06-18 13:19:50+00:00 peter owl:Class HP:0009432 biolink:NamedThing Curved middle phalanx of the 3rd finger Curved appearance of the middle phalanx of the 3rd (middle) finger. tmpxe7fu0cj_hp_relaxed.owl Curved middle bone of the middle finger UMLS:C4024366 doelkens 2009-01-14T03:41:31Z human_phenotype owl:Class NCBITaxon:451866 biolink:NamedThing Taphrinomycotina tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0005652 biolink:NamedThing Cortical sclerosis Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025164 human_phenotype owl:Class HP:0011364 biolink:NamedThing White hair Hypopigmented hair that appears white. tmpxe7fu0cj_hp_relaxed.owl White hair UMLS:C0239804|SNOMEDCT_US:297993006 peter 2012-03-01T09:50:48Z human_phenotype owl:Class HP:0030691 biolink:NamedThing Divergence nystagmus A condition in which both eyes beat outward simultaneously. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073130 This is a rare condition that may be related to posterior foass abnormalities and can occur with spinocerebellar degeneration. owl:Class HP:0032226 biolink:NamedThing Abnormal sebaceous gland morphology Any structural anomaly of the sebaceous glands. tmpxe7fu0cj_hp_relaxed.owl 2019-01-26 14:26:26+00:00 Sebaceous glands are found all over the human body except on the palms of the hands and soles of the feet. The glands are numerous on the face and scalp and are sparse in areas such as the back. They can number as many as 400-900 glands/cm2 on the face. Sebaceous glands are usually found in association with a hair follicle, which, together, is referred to as a pilosebaceous unit. The sebaceous gland is located in association with the upper portion of the hair follicle, where it is not affected by the hair cycle. Sebaceous glands can be unilobular or multilobular. Although a majority of sebaceous glands are part of a pilosebaceous unit, some glands can be found without an associated hair follicle. Sebaceous glands secrete sebum, which contains cholesterol, cholesteryl esters, squalene, fatty acids, diglycerides and triglycerides, and wax esters. peter owl:Class HP:0040086 biolink:NamedThing Abnormal prolactin level tmpxe7fu0cj_hp_relaxed.owl Abnormal prolactin level UMLS:C4022448 HPO:skoehler owl:Class HP:0033995 biolink:NamedThing Microvillus inclusions The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes. tmpxe7fu0cj_hp_relaxed.owl 2021-08-21 13:07:59+00:00 See figure 1 of PMID:26830108. peter owl:Class HP:0030737 biolink:NamedThing Altman type I sacrococcygeal teratoma A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280795 owl:Class HP:4000057 biolink:NamedThing Decreased FasL-mediated apoptosis A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 21:55:09+00:00 robinp owl:Class HP:0033664 biolink:NamedThing Ganglioglioma Gangliogliomas are rare tumours of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumours consisting of both dysplastic neuronal and neoplastic glial cells. tmpxe7fu0cj_hp_relaxed.owl 2021-02-28 14:45:46+00:00 NCIT:C3788 Gangliogliomas are commonly found in the temporal lobe and may be associated with temporal lobe epilepsy. peter owl:Class HP:0032939 biolink:NamedThing Physiological reactivity to cues Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s). tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0045646 biolink:NamedThing regulation of erythrocyte differentiation Any process that modulates the frequency, rate or extent of erythrocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl regulation of red blood cell differentiation|regulation of RBC differentiation biological_process owl:Class CHEBI:36343 biolink:NamedThing composite particle A subatomic particle known to have substructure (i.e. consisting of smaller particles). tmpxe7fu0cj_hp_relaxed.owl composite particles chebi_ontology owl:Class HP:0009777 biolink:NamedThing Absent thumb Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. tmpxe7fu0cj_hp_relaxed.owl Aplasia of the thumb|Absent thumbs|Thumb aplasia|Absent thumb UMLS:C3278811 doelkens 2009-02-02T05:46:42Z HP:0001185|HP:0002802|HP:0009627 human_phenotype owl:Class GO:1904363 biolink:NamedThing negative regulation of calcitonin secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0410168 biolink:NamedThing Abnormality of the back musculature Any abnormality of the back muscles. tmpxe7fu0cj_hp_relaxed.owl Muscle issues in the back 2018-05-01 17:38:59+00:00 owl:Class GO:0002269 biolink:NamedThing leukocyte activation involved in inflammatory response A change in the morphology or behavior of a leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an inflammatory response. tmpxe7fu0cj_hp_relaxed.owl leukocyte activation during inflammatory response|immune cell activation during inflammatory response biological_process owl:Class HP:0031195 biolink:NamedThing Apical hypertrabeculation of the left ventricle An increased number and density of the trabeculae in the apex (tip) of the left ventricle. tmpxe7fu0cj_hp_relaxed.owl 2017-06-24 14:15:22+00:00 peter owl:Class HP:0007964 biolink:NamedThing Degenerative vitreoretinopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843486 human_phenotype owl:Class HP:0007773 biolink:NamedThing Vitreoretinopathy Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. tmpxe7fu0cj_hp_relaxed.owl Vitreoretinal degeneration|Vitreoretinal abnormality UMLS:C1850109 HP:0000655 human_phenotype owl:Class GO:0060407 biolink:NamedThing negative regulation of penile erection Any process that stops, prevents, or reduces the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:139592 biolink:NamedThing tertiary alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. tmpxe7fu0cj_hp_relaxed.owl tertiary alpha-hydroxy ketones|tertiary alpha-hydroxy-ketones|tertiary alpha-hydroxyketone|tertiary alpha-hydroxy-ketone|tertiary alpha-hydroxyketones 0 C2HO2R3 57.028 56.99765 C(C(=O)*)(O)(*)* chebi_ontology owl:Class UBERON:0009912 biolink:NamedThing anatomical lobe A portion of an organ, such as the liver, lung, breast, or brain. tmpxe7fu0cj_hp_relaxed.owl lobus FMA:45728|NCIT:C13393 uberon owl:Class HP:0032533 biolink:NamedThing Elevated circulating acetone concentration An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies. tmpxe7fu0cj_hp_relaxed.owl 2019-05-27 13:06:14+00:00 peter owl:Class UBERON:0015116 biolink:NamedThing distal tarsal bone 5 pre-cartilage condensation A distal tarsal bone 5 endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0015114 biolink:NamedThing distal tarsal bone 5 endochondral element tmpxe7fu0cj_hp_relaxed.owl distal tarsal 5 uberon owl:Class CL:0000492 biolink:NamedThing CD4-positive helper T cell A CD4-positive, alpha-beta T cell that cooperates with other lymphocytes via direct contact or cytokine release to initiate a variety of immune functions. tmpxe7fu0cj_hp_relaxed.owl CD4-positive helper T-lymphocyte|CD4-positive helper T-cell|CD4-positive T-helper cell|CD4-positive helper T lymphocyte CALOHA:TS-1146|FMA:70572 cell owl:Class HP:0100679 biolink:NamedThing Lack of skin elasticity tmpxe7fu0cj_hp_relaxed.owl Tight skin UMLS:C4021998|SNOMEDCT_US:297957009|UMLS:C0558242 doelkens 2010-12-30T01:48:15Z owl:Class HP:0011686 biolink:NamedThing Abnormal coronary artery course An abnormal path of a coronary artery. tmpxe7fu0cj_hp_relaxed.owl Anomalous coronary artery course SNOMEDCT_US:253714001|UMLS:C0345122 peter 2012-04-10T08:37:35Z human_phenotype owl:Class HP:0031634 biolink:NamedThing Anomalous origin of the left common carotid artery from the main pulmonary artery The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 12:26:12+00:00 peter owl:Class HP:0430021 biolink:NamedThing Abnormal common carotid artery morphology An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the common carotid artery UMLS:C4073203 owl:Class HP:0025654 biolink:NamedThing Placenta acreta Abnormally firm adherence of the placenta to the uterine wall. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0005999 biolink:NamedThing Ureteral atresia A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:49534003|UMLS:C0266320|SNOMEDCT_US:204974003 owl:Class HP:0410373 biolink:NamedThing Abnormal proportion of naive CD4 T cells Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Abnormal proportion of CD4+CD45RA+ cells|Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells owl:Class HP:0006962 biolink:NamedThing Gait instability, worse in the dark tmpxe7fu0cj_hp_relaxed.owl Unstable walking, worse in the dark UMLS:C1837016 human_phenotype owl:Class CHEBI:33658 biolink:NamedThing arene Any monocyclic or polycyclic aromatic hydrocarbon. tmpxe7fu0cj_hp_relaxed.owl aromatic hydrocarbons|arenes|arene chebi_ontology owl:Class HP:0000079 biolink:NamedThing Abnormality of the urinary system An abnormality of the urinary system. tmpxe7fu0cj_hp_relaxed.owl Urinary tract abnormalities|Urinary tract anomalies|Urinary tract abnormality UMLS:C4021821 human_phenotype owl:Class CHEBI:24583 biolink:NamedThing hexitol tmpxe7fu0cj_hp_relaxed.owl hexitol|hexitols chebi_ontology owl:Class HP:0001868 biolink:NamedThing Autoamputation of foot Spontaneous detachment of a foot from the body. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025740 human_phenotype owl:Class GO:0030485 biolink:NamedThing smooth muscle contractile fiber The contractile fiber of smooth muscle cells. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class UBERON:0022297 biolink:NamedThing palpebral branch of infra-orbital nerve A nerve that innervates an eyelid and is a branch of the infra-orbital branch of the maxillary nerve. tmpxe7fu0cj_hp_relaxed.owl palpebral branch of maxillary nerve uberon owl:Class UBERON:0003437 biolink:NamedThing eyelid nerve A nerve that innervates an eyelid. tmpxe7fu0cj_hp_relaxed.owl palpebral nerve|nerve of eyelid|nerve of blepharon|blepharon nerve EMAPA:37535|MA:0001255 uberon owl:Class CHEBI:37624 biolink:NamedThing L-glucose tmpxe7fu0cj_hp_relaxed.owl L-glucose|L-gluco-hexose|L(-)-glucose 0 C6H12O6 180.156 180.06339 CAS:921-60-8|Beilstein:1724626 chebi_ontology owl:Class UBERON:0003687 biolink:NamedThing foramen magnum In anatomy, in the occipital bone, the foramen magnum is one of the several oval or circular apertures in the base of the skull, through which the medulla oblongata (an extension of the spinal cord) enters and exits the skull vault. Apart from the transmission of the medulla oblongata and its membranes, the foramen magnum transmits the Spinal Accessory nerve, vertebral arteries, the anterior and posterior spinal arteries, the membrana tectoria and alar ligaments. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl MESH:D005539|EMAPA:37868|OpenCyc:Mx4rwOm-FpwpEbGdrcN5Y29ycA|ZFA:0005387|SCTID:244679008|AAO:0010826|FMA:75306|GAID:228|Wikipedia:Foramen_magnum|UMLS:C0016519|NCIT:C12495|TAO:0002045 Design pattern notes: check whether this fits the foramen design pattern http://upload.wikimedia.org/wikipedia/commons/3/39/Gray130.png uberon owl:Class Foramen in the occipital region of neurocranium to allow passage of spinal cord.[TAO] HP:0006770 biolink:NamedThing Clear cell renal cell carcinoma A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. tmpxe7fu0cj_hp_relaxed.owl Nonpapillary renal cell carcinoma SNOMEDCT_US:188251003|MSH:D002292|SNOMEDCT_US:41607009|UMLS:C0279702|SNOMEDCT_US:254915003 human_phenotype owl:Class HP:0011225 biolink:NamedThing Epiblepharon Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:253212001|UMLS:C0344503 Epiblepharon should be distinguished from entropion. peter 2011-12-13T08:28:48Z human_phenotype owl:Class HP:0009747 biolink:NamedThing Lumbosacral hirsutism Abnormally increased hair growth in the lumbosacral region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851095 peter 2009-01-31T03:21:52Z owl:Class HP:0031458 biolink:NamedThing Adenoiditis An inflammation of the adenoid tissue. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 16:02:03+00:00 Adenoiditis is usually caused by an infection. peter owl:Class GO:0048627 biolink:NamedThing myoblast development The process whose specific outcome is the progression of the myoblast over time, from its formation to the mature structure. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CL:2000067 biolink:NamedThing cardiac atrium fibroblast Any fibroblast that is part of a cardiac atrium. tmpxe7fu0cj_hp_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=6320 TermGenie 2014-10-07T18:36:54Z cell owl:Class GO:0033212 biolink:NamedThing iron import into cell The directed movement of iron ions from outside of a cell into the cytoplasmic compartment. This may occur via transport across the plasma membrane or via endocytosis. tmpxe7fu0cj_hp_relaxed.owl ferrous iron uptake|iron assimilation|ferrous ion import|ferrous iron import mah 2009-05-01T04:19:14Z GO:0070627 biological_process owl:Class HP:0008372 biolink:NamedThing Abnormality of vitamin A metabolism tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024686 peter 2008-04-04T12:29:00Z human_phenotype owl:Class HP:0030754 biolink:NamedThing Allantoic cyst A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:17234001|UMLS:C0041915|MSH:D014496 owl:Class CHEBI:24662 biolink:NamedThing hydroxy-amino acid A non-proteinogenic alpha-amino acid bearing one or more hydroxy groups at unspecified positions. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0032594 biolink:NamedThing Renal tubular basement membrane denudation Naked basement membranes without tubular epithelium. tmpxe7fu0cj_hp_relaxed.owl Denuded tubular basement membrane peter owl:Class HP:0410286 biolink:NamedThing Positive blood molindone test Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia. tmpxe7fu0cj_hp_relaxed.owl Positive blood Moban test 2018-12-04 02:07:58+00:00 owl:Class GO:1903181 biolink:NamedThing positive regulation of dopamine biosynthetic process Any process that activates or increases the frequency, rate or extent of dopamine biosynthetic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of dopamine formation|upregulation of dopamine biosynthetic process|up regulation of dopamine synthesis|activation of dopamine biosynthetic process|up-regulation of dopamine anabolism|up regulation of dopamine biosynthesis|positive regulation of dopamine synthesis|up regulation of dopamine anabolism|up-regulation of dopamine biosynthetic process|upregulation of dopamine biosynthesis|upregulation of dopamine formation|positive regulation of dopamine biosynthesis|activation of dopamine formation|upregulation of dopamine anabolism|activation of dopamine synthesis|up-regulation of dopamine biosynthesis|up regulation of dopamine biosynthetic process|positive regulation of dopamine anabolism|up-regulation of dopamine synthesis|upregulation of dopamine synthesis|up-regulation of dopamine formation|activation of dopamine biosynthesis|activation of dopamine anabolism|up regulation of dopamine formation bf 2014-07-14T12:17:53Z biological_process owl:Class GO:0045964 biolink:NamedThing positive regulation of dopamine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving dopamine. tmpxe7fu0cj_hp_relaxed.owl activation of dopamine metabolic process|up-regulation of dopamine metabolic process|upregulation of dopamine metabolic process|up regulation of dopamine metabolic process|stimulation of dopamine metabolic process|positive regulation of dopamine metabolism biological_process owl:Class HP:0430008 biolink:NamedThing Accessory eyelid The presence of more than the normal number of eyelids. tmpxe7fu0cj_hp_relaxed.owl Double eyelid|Extra eyelid UMLS:C0266576|SNOMEDCT_US:24606006|UMLS:C4280275 owl:Class CL:0001063 biolink:NamedThing neoplastic cell An abnormal cell exhibiting dysregulation of cell proliferation or programmed cell death and capable of forming a neoplasm, an aggregate of cells in the form of a tumor mass or an excess number of abnormal cells (liquid tumor) within an organism. tmpxe7fu0cj_hp_relaxed.owl tumor cell|tumour cell 2017-01-30 19:16:26+00:00 https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C12922 https://github.com/obophenotype/cell-ontology/issues/448 cell owl:Class GO:1903057 biolink:NamedThing negative regulation of melanosome organization Any process that stops, prevents or reduces the frequency, rate or extent of melanosome organization. tmpxe7fu0cj_hp_relaxed.owl negative regulation of melanosome organisation|down-regulation of melanosome organization and biogenesis|downregulation of melanosome organization|down regulation of melanosome organization|inhibition of melanosome organization|down regulation of melanosome organisation|down-regulation of melanosome organization|downregulation of melanosome organisation|down regulation of melanosome organization and biogenesis|inhibition of melanosome organisation|downregulation of melanosome organization and biogenesis|negative regulation of melanosome organization and biogenesis|down-regulation of melanosome organisation|inhibition of melanosome organization and biogenesis Lack of the transcription factor Zeb2 Q9R0G7 leads to spherical melanosomes with irregular borders, in contrast to the rod-shaped melanosomes of ZEB2MCWT hair follicles. rl 2014-05-27T13:27:55Z biological_process owl:Class NBO:0000403 biolink:NamedThing voluntary movement behavior "Behavior related to movements executed with intent." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-04-06T03:32:28Z George Gkoutos behavior_ontology owl:Class NBO:0000121 biolink:NamedThing agonistic behavior tmpxe7fu0cj_hp_relaxed.owl agonism 2011-03-31T11:42:15Z George Gkoutos behavior_ontology owl:Class HP:0009482 biolink:NamedThing Proximal/middle symphalangism of 3rd finger Fusion of the proximal and middle phalanges of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Fused of innermost and middle bones of middle finger UMLS:C4024340 doelkens 2009-01-15T10:29:08Z HP:0009481 human_phenotype owl:Class HP:0002487 biolink:NamedThing Hyperkinetic movements Motor hyperactivity with excessive movement of muscles of the body as a whole. tmpxe7fu0cj_hp_relaxed.owl Hyperkinesis|Muscle spasms|Hyperkinesia UMLS:C0424295|MSH:D006948|MSH:D013035|SNOMEDCT_US:44548000|UMLS:C0037763|SNOMEDCT_US:45352006 human_phenotype owl:Class HP:0100161 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the innermost bone of the 3rd toe UMLS:C4022260 doelkens 2010-06-24T10:24:45Z human_phenotype owl:Class HP:0100059 biolink:NamedThing Fragmentation of the epiphyses of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the 3rd toe bone UMLS:C4022362 doelkens 2010-06-24T09:58:55Z human_phenotype owl:Class HP:0012049 biolink:NamedThing Laryngeal dystonia A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech. tmpxe7fu0cj_hp_relaxed.owl Spasmodic dysphonia UMLS:C1963946|SNOMEDCT_US:3331000119108 peter 2012-08-01T12:34:41Z owl:Class GO:0034219 biolink:NamedThing carbohydrate transmembrane transport The process in which a carbohydrate is transported across a membrane. tmpxe7fu0cj_hp_relaxed.owl carbohydrate membrane transport|transmembrane carbohydrate transport Note that this term is not intended for use in annotating lateral movement within membranes. biological_process owl:Class HP:0020100 biolink:NamedThing Unusual fungal infection An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 19:05:28+00:00 robinp owl:Class HP:0001937 biolink:NamedThing Microangiopathic hemolytic anemia tmpxe7fu0cj_hp_relaxed.owl Microangiopathic hemolytic anaemia SNOMEDCT_US:51071000|MSH:D000743|UMLS:C0221021 human_phenotype owl:Class HP:0032217 biolink:NamedThing Indurated nodule A skin nodule that is unusually hard (indurated). tmpxe7fu0cj_hp_relaxed.owl 2019-01-21 00:45:22+00:00 peter owl:Class HP:0030071 biolink:NamedThing Medulloepithelioma A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:39005004|MSH:D018242|UMLS:C0334596|SNOMEDCT_US:715903004 Medulloepithelioma is a rare primitive neuroectodermal tumour of the central nervous system usually developing in childhood, displaying highly malignant behaviour, with early progression or recurrence. owl:Class CHEBI:33793 biolink:NamedThing canonical deoxyribonucleoside residue tmpxe7fu0cj_hp_relaxed.owl common 2'-deoxyribonucleoside residue|standard deoxyribonucleoside residues|dN|canonical deoxyribonucleoside residues|common 2'-deoxyribonucleoside residues|dNuc chebi_ontology owl:Class GO:0034436 biolink:NamedThing glycoprotein transport The directed movement of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025640 biolink:NamedThing Abnormal urinary mineral level An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium. tmpxe7fu0cj_hp_relaxed.owl 2019-04-26 18:13:40+00:00 HPO:probinson owl:Class UBERON:0003481 biolink:NamedThing tail vein A vein that is part of a tail [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl caudal vein|vein of post-vent region|vein of tail|post-vent region vein XAO:0000393|EMAPA:37761|MA:0002233|AAO:0011105 see also caudal vein uberon owl:Class HP:0003909 biolink:NamedThing Cortical subperiosteal resorption of humeral metaphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025515 human_phenotype owl:Class HP:0200134 biolink:NamedThing Epileptic encephalopathy A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. tmpxe7fu0cj_hp_relaxed.owl Convulsive encephalopathy UMLS:C0543888 Seizures alone without any underlying neurologic or medical illness can be the sole cause of encephalopathy. Patients with seizures as a cause or consequence of encephalopathy present with a wide variety of neurologic symptoms from mild reduction or alteration of consciousness to coma. Findings on neurologic exam are often nonfocal, nonspecific, and not predictive of the presence of seizures. Patients may or may not have subtle motor findings accompanying the presentation of encephalopathy. Signs range from very focal findings, such as nystagmus, eye flutter, blinking, and eye deviation to more widespread signs, such as myoclonus, tremulousness, and autonomic instability. sebastiankohler 2013-06-11T04:02:30Z human_phenotype owl:Class HP:0011385 biolink:NamedThing Absent internal auditory canal Aplasia of the internal auditory canal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023384 peter 2012-03-09T07:33:46Z human_phenotype owl:Class GO:0005577 biolink:NamedThing fibrinogen complex A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds. tmpxe7fu0cj_hp_relaxed.owl fibrinogen alpha chain|fibrinogen|fibrinogen gamma chain|fibrinogen beta chain cellular_component owl:Class HP:0012106 biolink:NamedThing Rhizomelic leg shortening Disproportionate shortening of the proximal segment of the leg (i.e. the femur). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023039 peter 2012-09-08T03:53:33Z human_phenotype owl:Class HP:0100475 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Fused innermost bone of little toe|Fused innermost bone of pinkie toe|Fused innermost bone of pinky toe UMLS:C4022052 human_phenotype owl:Class HP:0031266 biolink:NamedThing Podocyte foot process effacement An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier. tmpxe7fu0cj_hp_relaxed.owl Loss of primary podocyte processes 2017-08-12 19:38:16+00:00 Two stages of podocyte foot process effacement (FPE) may clearly be distinguished. Within the first stage, foot processes undergo tremendous changes in shape, losing their regular interdigitating pattern and retracting into short irregularly shaped cell projections. Slit diaphragms are lost or displaced from their usual position at the base and replaced by occludens-type junctions between the deformed, broadened foot processes. These changes are necessarily associated with considerable movements of these processes in relation to the glomerular basemenet membrane (GBM). The second phase, the completed stage of FPE, includes retraction of the foot processes into the primary podocyte cell processes, leading to broad flattened disc-like projections that cover the GBM, finally merging with the cell bodies. At this point, the cell bodies have lost their usual position floating above the GBM within the filtrate in Bowman space. Instead they broadly adhere directly to the GBM. The subpodocyte space beneath the podocyte cell body has largely disappeared in this stage. peter owl:Class HP:0100247 biolink:NamedThing Recurrent singultus A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc. tmpxe7fu0cj_hp_relaxed.owl Recurrent hiccup|Hiccups|Recurrent hiccough|Recurrent synchronous diaphragmatic flutter|Hiccup UMLS:C0019521|UMLS:C0744897|SNOMEDCT_US:65958008|MSH:D006606 A bout of hiccups, in general, resolves itself without intervention, although many home remedies claim to shorten the duration, and medical treatment is occasionally necessary in cases of chronic hiccups. Hiccups are caused by many central and peripheral nervous system disorders, all from injury or irritation to the phrenic and vagus nerves, as well as toxic or metabolic disorders affecting the aforementioned systems. Hiccups often occur after consuming carbonated beverages, alcohol, dry breads, or spicy foods. Prolonged laughter or eating too fast are also known to cause hiccups. Persistent or intractable hiccups may be caused by any condition which irritates or damages the relevant nerves. doelkens 2010-07-08T05:28:00Z human_phenotype owl:Class UBERON:0014887 biolink:NamedThing distal epiphysis of distal phalanx of digit A distal epiphysis that is part of a distal phalanx. tmpxe7fu0cj_hp_relaxed.owl head of distal phalanx|distal end of distal phalanx of digit|head of distal phalanx of digit of autopod|head of distal phalanx of digit uberon owl:Class HP:0032478 biolink:NamedThing Lateral spinal meningocele Protrusion of the arachnoid and dura through spinal foramina. tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 12:13:41+00:00 peter owl:Class HP:0009728 biolink:NamedThing Neoplasm of striated muscle A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle. tmpxe7fu0cj_hp_relaxed.owl Tumours of striated muscle|Tumors of striated muscle UMLS:C4021396|NCIT:C3262 peter 2009-01-31T10:52:25Z human_phenotype owl:Class GO:0034393 biolink:NamedThing positive regulation of smooth muscle cell apoptotic process Any process that activates or increases the frequency, rate, or extent of smooth muscle cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl upregulation of smooth muscle cell apoptosis|stimulation of smooth muscle cell apoptosis|activation of smooth muscle cell apoptosis|positive regulation of SMC apoptosis|up-regulation of smooth muscle cell apoptosis|positive regulation of smooth muscle cell apoptosis|up regulation of smooth muscle cell apoptosis biological_process owl:Class HP:0032585 biolink:NamedThing Renal interstitial eosinophil infiltration Increased numbers of eosinophils in the interstitial tissues of the kidney. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class PATO:0040040 biolink:NamedThing compression-fractured A fractured quality that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. tmpxe7fu0cj_hp_relaxed.owl compression fractured|fractured, compression|fractured, wedge|wedge fractured quality owl:Class CL:0002559 biolink:NamedThing hair follicle cell An animal cell that is part of a hair follicle. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-03-01T04:11:01Z cell owl:Class HP:0410149 biolink:NamedThing Drug-induced anaphylaxis A form of anaphylaxis that is triggered by intake of drugs or medications. tmpxe7fu0cj_hp_relaxed.owl Drug induced anaphylaxis 2018-03-12 21:33:42+00:00 owl:Class UBERON:0009989 biolink:NamedThing condyle of tibia One of the lateral or medial condyles of the tibia. tmpxe7fu0cj_hp_relaxed.owl tibial condyle AAO:0000899 uberon owl:Class Convex articular facet of the distal head of the femur that articulates with the proximal head of the tibia.[AAO] GO:1903039 biolink:NamedThing positive regulation of leukocyte cell-cell adhesion Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion. tmpxe7fu0cj_hp_relaxed.owl upregulation of leukocyte cell adhesion|activation of leukocyte cell-cell adhesion|up-regulation of leukocyte cell-cell adhesion|up-regulation of leukocyte adhesion|positive regulation of leukocyte adhesion|activation of leukocyte adhesion|up regulation of leukocyte cell adhesion|up-regulation of leukocyte cell adhesion|upregulation of leukocyte cell-cell adhesion|up regulation of leukocyte adhesion|upregulation of leukocyte adhesion|positive regulation of leukocyte cell adhesion|activation of leukocyte cell adhesion|up regulation of leukocyte cell-cell adhesion Exogenous expression of ASS1 or NOS3 in HUVECs enhances NO production and inhibits monocyte adhesion rl 2014-05-19T15:30:15Z biological_process owl:Class HP:4000031 biolink:NamedThing Anti-type VII collagen antibody The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 15:04:26+00:00 Anti-type VII collagen may be detected in bullous pemphigoid patients at time of relapse. robinp owl:Class HP:0030958 biolink:NamedThing Membranous ventricular septal aneurysm Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). tmpxe7fu0cj_hp_relaxed.owl Aneurysm of the membranous ventricular septum|Interventricular septum membranous part aneurysm 2017-03-17 20:04:30+00:00 Fyler:2346 The pars membranacea is the last portion of the septum formed in the fetus, is lo-cated between the left and right ventricles in front of the tricuspid valve, and between the left ventricle and the right atrium, behind the tricuspid valve. It lies in close proximity to the aortic and atrioventricular valves and is considered to be the weakest part of the ventricular septum. The aneurysms of the membranous portion usually measure 1 to 2 cm in all diameters and their walls are composed of fibrous tissue forming thick trabeculae when seen from the left ventricle. They can project into different portions of the right ventricle or right atrium. robinp owl:Class HP:0000931 biolink:NamedThing Thinning and bulging of the posterior fossa bones tmpxe7fu0cj_hp_relaxed.owl Thinning and bulging of occipital bone of skull|Thinning and bulging of posterior fossa bones|Thinning and bulging of posterior skull bones UMLS:C4021788|UMLS:C4280608 human_phenotype owl:Class UBERON:0005667 biolink:NamedThing connecting stalk mesoderm tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000314 uberon owl:Class HP:0032799 biolink:NamedThing Focal impaired awareness hemiclonic seizure A focal hemiclonic seizure in which awareness is impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0030295 biolink:NamedThing Metaphyseal chondromatosis of femur tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022530 owl:Class HP:0030000 biolink:NamedThing EMG: repetitive nerve stimulation abnormality Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022681 owl:Class UBERON:0013752 biolink:NamedThing diaphysis of metacarpal bone A diaphysis that is part of a metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl shaft of metacarpal|corpus ossis metacarpi|shaft of metacarpal bone|metacarpal bone diaphysis|body of metacarpal FMA:33804 uberon owl:Class UBERON:0001455 biolink:NamedThing cuboid bone A tarsal bone that is formed from distal tarsals 4 and 5. [WP,modified]. tmpxe7fu0cj_hp_relaxed.owl distal tarsal bones 4 and 5|os tarsale IV et V|cuboid|os cuboideum|cuboideum|foot distal tarsal bone 4 and 5 MA:0001355|EMAPA:36175|FMA:24527|NCIT:C32414|BTO:0002357|UMLS:C0376381|galen:Cuboid http://upload.wikimedia.org/wikipedia/commons/1/18/Gray274.png uberon owl:Class NominaAnatomicaVeterinaria uses os cuboideum as an official synonym for distal tarsal IV, but some sources also use this as the label for the human cuboid bone which is regarded to be formed from tarsals IV and V. We therefore decline to use exact syns in either case. UBERON:0004632 biolink:NamedThing thoracic vertebra 7 The seventh thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl seventh dorsal vertebra|T7 vertebra|seventh thoracic vertebra UMLS:C0459947|EMAPA:19548|FMA:9968|NCIT:C33729|MA:0001444 elements are to be defined spatially/topologically uberon owl:Class HP:0100665 biolink:NamedThing Angioedema Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis. tmpxe7fu0cj_hp_relaxed.owl Angioneurotic oedema|Quincke edema|Quincke oedema|Angiooedema UMLS:C0002994|MSH:D000799|SNOMEDCT_US:400075008|SNOMEDCT_US:41291007 Apart from the common form, mediated by allergy, it has been reported as a side effect of some medications, in particular ACE inhibitors. Additionally, there are three autosomal dominant inherited forms known, due to mutations in the genes that control the clotting cascade, including the SERPING1 gene, which results in deficiency of the blood protein C1-inhibitor (type I HAE) and the F12 gene, which controls Factor XII (type III HAE). There is an additional type in which C1 levels are normal but C1 function is decreased (type II HAE). All three forms are called hereditary angioedema (HAE) or occasionally by the outdated term 'hereditary angioneurotic edema' (HANE). In all forms of HAE, swelling may also occur in the digestive tract and other organs. It is life-threatening when it involves the larynx due to the potential for asphyxiation. doelkens 2010-12-30T01:09:59Z HP:0100666 owl:Class UBERON:0015054 biolink:NamedThing iliac endochondral element An iliac bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl iliac element|iliac skeletal element uberon owl:Class HP:0033639 biolink:NamedThing Septic pulmonary embolism Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations. tmpxe7fu0cj_hp_relaxed.owl Septic pulmonary emboli 2021-02-03 13:30:30+00:00 peter owl:Class HP:3000029 biolink:NamedThing Abnormality of depressor labii inferioris An abnormality of a depressor labii inferioris. tmpxe7fu0cj_hp_relaxed.owl Abnormality of depressor labii inferioris muscle UMLS:C4073238 vasilevs 2015-08-07T00:16:25Z human_phenotype owl:Class HP:0031143 biolink:NamedThing Decreased hepatic echogenicity Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device. tmpxe7fu0cj_hp_relaxed.owl Hypoechogenic liver 2017-06-11 19:23:55+00:00 peter owl:Class HP:0031142 biolink:NamedThing Abnormal hepatic echogenicity Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen). tmpxe7fu0cj_hp_relaxed.owl 2017-06-11 19:20:52+00:00 peter owl:Class HP:0025115 biolink:NamedThing Civatte bodies Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant tmpxe7fu0cj_hp_relaxed.owl Cytoid bodies|Colloid bodies|Hyaline bodies|Colloid bodies of Civatte 2016-11-01 01:58:56+00:00 The presence of numerous civatte bodies (CBs) in biopsies is a characteristic finding in skin lesions of patients with various dermatoses, particularly lichen planus (LP) and discoid lupus erythematosus (DLE). Achille Civatte (1877-1956) was a French dermatologist. HPO:probinson owl:Class HP:0012309 biolink:NamedThing Cutaneous amyloidosis The presence of amyloid deposition in the superficial dermis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0268397|SNOMEDCT_US:281882003|SNOMEDCT_US:201337008|MSH:C562642|SNOMEDCT_US:718105008|SNOMEDCT_US:282834007 peter 2013-08-10T11:59:57Z human_phenotype owl:Class HP:0034145 biolink:NamedThing Anti-alanyl-tRNA synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase. tmpxe7fu0cj_hp_relaxed.owl Anti-PL-12 antibody positivity 2021-12-23 13:53:46+00:00 peter owl:Class CL:0005012 biolink:NamedThing multi-ciliated epithelial cell A ciliated epithelial cell with many cilium. tmpxe7fu0cj_hp_relaxed.owl multi-ciliated cell|multiciliated cell|multiciliated epithelial cell|MCC cell owl:Class GO:0034390 biolink:NamedThing smooth muscle cell apoptotic process Any apoptotic process in a smooth muscle cell. Smooth muscle consists of non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. tmpxe7fu0cj_hp_relaxed.owl smooth muscle cell apoptosis|SMC apoptosis|programmed cell death of smooth muscle cells by apoptosis|programmed cell death, smooth muscle cells|apoptosis of smooth muscle cells|smooth muscle cell programmed cell death by apoptosis biological_process owl:Class HP:0033689 biolink:NamedThing Anterograde memory impairment The impaired ability to establish new long-term memories. tmpxe7fu0cj_hp_relaxed.owl Anterograde amnesia 2021-03-07 22:50:11+00:00 peter owl:Class GO:0007028 biolink:NamedThing cytoplasm organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the cytoplasm. The cytoplasm is all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. tmpxe7fu0cj_hp_relaxed.owl cytoplasm organisation|cytoplasm organization and biogenesis biological_process owl:Class UBERON:0001190 biolink:NamedThing ovarian artery An artery that supplies an ovary. tmpxe7fu0cj_hp_relaxed.owl arteria ovarica|ovarian arterial tree Wikipedia:Ovarian_artery|NCIT:C33242|MA:0002012|UMLS:C0226411|FMA:14761|SCTID:244280002|EMAPA:18620|OpenCyc:Mx4rwOa9PZwpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/a/ae/Gray1170.png uberon owl:Class In human anatomy, the ovarian artery is a blood vessel that supplies oxygenated blood to the ovary. It arises from the abdominal aorta below the renal artery, and does not pass out of the abdomiproperty_value external_definitioncavity. It can be found in the suspensory ligament of the ovary. [WP]. UBERON:4000020 biolink:NamedThing mineralized extracellular matrix Extracellular matrix that is mineralized. tmpxe7fu0cj_hp_relaxed.owl vertebrate_skeletal_anatomy_curators uberon owl:Class This class was sourced from an external ontology (vertebrate_skeletal_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon UBERON:0003664 biolink:NamedThing manual digit muscle Any muscle organ that is part of a finger [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscle organ of digit of terminal segment of free upper limb|muscle organ of digitus manus|fore limb digit muscle|hand digit muscle|terminal segment of free upper limb digit muscle organ|digit of hand muscle organ|digit of terminal segment of free upper limb muscle organ|muscle organ of terminal segment of free upper limb digit|muscle organ of digit of hand|hand digit muscle organ|muscle organ of hand digit|muscle organ of finger|finger muscle organ|digitus manus muscle organ EMAPA:37331|MA:0000624 uberon owl:Class UBERON:0001500 biolink:NamedThing muscle of manus Any muscle organ that is part of a manus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hand muscle|muscle organ of manus|manus muscle organ|manus muscle|muscle of hand MA:0000628|FMA:37372|EMAPA:32644 uberon owl:Class HP:0004493 biolink:NamedThing Craniofacial hyperostosis Excessive growth of the craniofacial bones. tmpxe7fu0cj_hp_relaxed.owl Thick craniofacial bones|Excessive growth of craniofacial bones|Excessive bone growth of the skull and face|Hyperostosis of craniofacial bones|Increased ossification of craniofacial bones|Overgrowth of craniofacial bones|Hypertrophy of craniofacial bones|Enlargement of craniofacial bones UMLS:C1868085|UMLS:C4280516|UMLS:C4280517|UMLS:C4280518 human_phenotype owl:Class HP:0031160 biolink:NamedThing Myelokathexis Impaired egress of mature neutrophils from bone marrow causing neutropenia. tmpxe7fu0cj_hp_relaxed.owl 2017-06-18 14:13:54+00:00 The word myelo-kathexis is derived from the Greek words for marrow (myelo) retention (kathexis). Unlike other forms of severe neutropenia, myelokathexis is characterized by granulocytic hyperplasia in the bone marrow, which contains neutrophils with cytoplasmic vacuoles, nuclear hypersegmentation, and pyknotic nuclear lobes connected by thin filaments. peter owl:Class HP:0032160 biolink:NamedThing Cryptococcal meningitis A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis. tmpxe7fu0cj_hp_relaxed.owl 2018-12-09 12:26:39+00:00 Cryptococcus yeasts are ubiquitous in the environment and are acquired by inhalation. In the immunocompromised host, reactivation of latent disease is believed to be responsible for the subsequent development of cryptococcal disease. For instance, in persons with depletion of CD4+ T cells, the ability of the immune response to adequately contain cryptococcal infection is impaired. peter owl:Class HP:0020083 biolink:NamedThing Furuncle An infection of a hair follicle that extends subcutaneously, forming an abscess. tmpxe7fu0cj_hp_relaxed.owl Boil 2019-04-08 16:59:51+00:00 robinp owl:Class HP:0040132 biolink:NamedThing Abnormal sensory nerve conduction velocity tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022421 HPO:skoehler owl:Class HP:0011204 biolink:NamedThing EEG with continuous slow activity EEG showing diffuse slowing without interruption. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023470 hecht 2011-11-19T11:28:47Z human_phenotype owl:Class HP:0100776 biolink:NamedThing Recurrent pharyngitis An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis. tmpxe7fu0cj_hp_relaxed.owl Recurrent sore throat|Pharyngitis, recurrent UMLS:C0747556 doelkens 2011-06-07T05:28:27Z human_phenotype owl:Class HP:0025439 biolink:NamedThing Pharyngitis Inflammation (due to infection or irritation) of the pharynx. tmpxe7fu0cj_hp_relaxed.owl 2017-04-24 00:03:24+00:00 HPO:probinson owl:Class Nfc592fe6220c460ab9c216fba8f33bf0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3374b153ad8844c0bdcaab432e96b1ad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007702 biolink:NamedThing tract of brain An axon tract that is part of a brain. tmpxe7fu0cj_hp_relaxed.owl brain tract|landmark tracts FMA:83848 the NIFSTD class 'nerve tract' is classified under 'regional part of brain', so it may seem like it belongs here, but actually includes spinal cord tracts uberon owl:Class UBERON:0014636 biolink:NamedThing thoracic spinal cord gray matter A gray matter of spinal cord that is part of a thoracic spinal cord. tmpxe7fu0cj_hp_relaxed.owl thoracic spinal cord gray matter SCTID:362441000|BIRNLEX:980|UMLS:C0228627 uberon owl:Class HP:0004278 biolink:NamedThing Synostosis involving bones of the hand An abnormal union between bones or parts of bones of the hand. tmpxe7fu0cj_hp_relaxed.owl Fused hand bones UMLS:C4020831 human_phenotype owl:Class Nabb3488a18734df49c21491b4abf288c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000502 biolink:NamedThing type D enteroendocrine cell A cell found throughout the gastrointestinal tract and in the pancreas. They secrete somatostatin in both an endocrine and paracrine manner. Somatostatin inhibits gastrin, cholecystokinin, insulin, glucagon, pancreatic enzymes, and gastric hydrochloric acid. A variety of substances which inhibit gastric acid secretion (vasoactive intestinal peptide, calcitonin gene-related peptide, cholecystokinin, beta-adrenergic agonists, and gastric inhibitory peptide) are thought to act by releasing somatostatin. tmpxe7fu0cj_hp_relaxed.owl D cell FMA:62935 cell owl:Class UBERON:0003440 biolink:NamedThing limb nerve A nerve that is part of a limb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nerve of limb EMAPA:37291|MA:0000693 uberon owl:Class N9c5cf320c3a74c7eb1c0d3246af399ef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nea49f8fc749d452fa7f68f8dfce44acb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N14f64512a04e4ca48d0d9e383bd71cec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002036 biolink:NamedThing Hiatus hernia The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. tmpxe7fu0cj_hp_relaxed.owl Stomach hernia|Hiatal hernia MSH:D006551|SNOMEDCT_US:84089009|UMLS:C3489393|MEDDRA:10020028 A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn). peter 2008-02-20T11:28:00Z human_phenotype owl:Class N3c87145b487e453e958a769ada74da0d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0071696 biolink:NamedThing ectodermal placode development The progression of an ectodermal placode over time from its initial formation until its mature state. An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm. tmpxe7fu0cj_hp_relaxed.owl mah 2010-03-02T11:48:01Z biological_process owl:Class N33de2682ce4c4e5589c631e6141ddbfd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:79026 biolink:NamedThing molybdenum cofactor(3-) An organic anionic group derived from molybdenum cofactor(3-). It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). tmpxe7fu0cj_hp_relaxed.owl molybdenum cofactor -3 C10H10MoN5O8PS3 551.33000 552.84832 Nc1nc2N[C@@H]3O[C@H](COP([O-])([O-])=O)C4=C(S[Mo]([O-])(=O)(S-*)S4)[C@@H]3Nc2c(=O)[nH]1 chebi_ontology owl:Class UBERON:0003535 biolink:NamedThing vagus X nerve trunk A nerve trunk that is part of a vagus nerve. tmpxe7fu0cj_hp_relaxed.owl trunk of vagus nerve|vagus nerve trunk|vagus neural trunk|vagal nerve trunk|trunk of vagal nerve|vagal X nerve trunk FMA:6221|EHDAA:4659|EMAPA:17272|MA:0001150|VHOG:0000736|EHDAA2:0002160 UBERON:0006308 uberon owl:Class UBERON:0001299 biolink:NamedThing glans penis The conic expansion of the corpus spongiosum that forms the head of the penis. tmpxe7fu0cj_hp_relaxed.owl balanus|coronal sulcus|glans UMLS:C0227948|FMA:18247|VHOG:0001475|EV:0100108|MA:0002726|OpenCyc:Mx4rvdCpE5wpEbGdrcN5Y29ycA|BTO:0003118|GAID:0000012|EMAPA:18988|NCIT:C12324 http://upload.wikimedia.org/wikipedia/commons/1/13/Anteriorglanspenis.jpg|Male:anatomy.png uberon owl:Class UBERON:0013239 biolink:NamedThing future glans penis A future glans that is part of a male genital tubercle. tmpxe7fu0cj_hp_relaxed.owl glans of male genital tubercle EMAPA:29252 uberon owl:Class N3f22862686054b58b08c541cd66bac48 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004464 biolink:NamedThing musculature of thorax Any collection of muscles that is part of a thorax [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl muscles of thorax|thoracic musculature|set of muscles of thorax|musculi thoracis|muscle group of thorax FMA:71293|EMAPA:37260|BTO:0000508 uberon owl:Class BTO and FMA do not mean precisely the same thing here. BTO thorax muscle is a pectoral muscle or diaphragm CHEBI:3424 biolink:NamedThing carnitinium A quaternary ammonium ion that is the the conjugate acid of carnitine. tmpxe7fu0cj_hp_relaxed.owl 3-hydroxy-4-(trimethylammonio)butanoic acid|3-carboxy-2-hydroxy-N,N,N-trimethylpropan-1-aminium|Carnitine +1 C7H16NO3 InChI=1S/C7H15NO3/c1-8(2,3)5-6(9)4-7(10)11/h6,9H,4-5H2,1-3H3/p+1 PHIQHXFUZVPYII-UHFFFAOYSA-O 162.20688 162.11247 C[N+](C)(C)CC(O)CC(O)=O KEGG:C00487|CAS:461-06-3|CAS:406-76-8 chebi_ontology owl:Class UBERON:0016918 biolink:NamedThing upper vermilion A vermilion that is part of a upper lip. tmpxe7fu0cj_hp_relaxed.owl vermilion border of upper lip|vermilion of upper lip FMA:59827 uberon owl:Class Na151d75411284373b563da5edbbb7b6d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0048634 biolink:NamedThing regulation of muscle organ development Any process that modulates the frequency, rate or extent of muscle development. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001668 biolink:NamedThing cerebellar vein A vein that drains the cerebellum. tmpxe7fu0cj_hp_relaxed.owl epencephalon-1 vein|vein of epencephalon-1|cerebellum vein|vein of cerebellum UMLS:C0226601|NCIT:C53032|FMA:51227|MA:0002093|EMAPA:37139 uberon owl:Class Nb2a9da06c5c54035952cca35cf59f4e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000013 biolink:NamedThing sympathetic nervous system The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter [GO]. tmpxe7fu0cj_hp_relaxed.owl sympathetic part of autonomic division of nervous system|sympathetic nervous system|pars sympathica divisionis autonomici systematis nervosi VHOG:0000384|NCIT:C12795|SCTID:362484004|MA:0000225|EHDAA2:0001971|AAO:0010487|GAID:710|BIRNLEX:2516|MIAA:0000100|CALOHA:TS-2050|EFO:0000893|ZFA:0001576|FMA:9906|Wikipedia:Sympathetic_nervous_system|EHDAA:3769|TAO:0001576|EMAPA:16985|MESH:D013564|UMLS:C1269646|BTO:0001832|UMLS:C0039044 http://upload.wikimedia.org/wikipedia/commons/7/77/Gray838.png uberon owl:Class Part of the autonomic nervous system which has opposing physiological effects of the parasympathetic nervous system. Examples include increasing the heart rate or constricting the blood vessels.[AAO]|The part of the autonomic nervous system which chiefly contains adrenergic fibres and tends to control and reduce secretions, decrease the contractility and hence the tone of smooth muscles and provoke the contraction of blood vessels. Essentially, it consists of preganglionic fibres from the thoracic and upper lumbar parts of the spinal cord. These fibres, by means of delicate rami communicantes, cross over to ganglia sited in a pair of ganglionated cords on each side of the vertebral column or to more peripheral ganglia. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] The autonomic nervous system is composed of three divisions: the sympathetic division, the parasympathetic division, and the enteric division. (...) In ray-finned teleost fishes, a sympathetic chain is present, and dual innervation of additional organs can be observed. A similar pattern can be found in amphibians (...). The evolution of the autonomic nervous system has been quite conservative, especially in the tetrapod lineage.[well established][VHOG] has developmental contribution from NC in verteberates (https://github.com/obophenotype/uberon/wiki/The-neural-crest) UBERON:0003076 biolink:NamedThing posterior neural tube tmpxe7fu0cj_hp_relaxed.owl XAO:0000250|TAO:0007037|AAO:0011082|VHOG:0001383|ZFA:0007037 uberon owl:Class (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...).[well established][VHOG] PATO:0001475 biolink:NamedThing increased position A position which is relatively high. tmpxe7fu0cj_hp_relaxed.owl high position quality owl:Class N6207415a226b445e875eb15dddbe2a8b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N00f43f6298804c26a0b2a42604dadcf8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N23acd520926f42d2837ce93fc68c456d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naa6ed1404fe44833bf1c84dd66694015 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004619 biolink:NamedThing lumbar vertebra 3 The third lumbar vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl third lumbar vertebra|L3 vertebra FMA:13074|UMLS:C0223522|EMAPA:19571|MA:0001430|NCIT:C32901 elements are to be defined spatially/topologically uberon owl:Class UBERON:0004618 biolink:NamedThing lumbar vertebra 2 The second lumbar vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl second lumbar vertebra|L2 vertebra NCIT:C32900|FMA:13073|UMLS:C0223507|MA:0001429|EMAPA:19570 elements are to be defined spatially/topologically uberon owl:Class CHEBI:27547 biolink:NamedThing zeaxanthin tmpxe7fu0cj_hp_relaxed.owl owl:Class Nddad7197f70e4be7a8ecafd50a6f0c5a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002684 biolink:NamedThing Thickened calvaria The presence of an abnormally thick calvaria. tmpxe7fu0cj_hp_relaxed.owl Calvarium thickened|Thickened cranial vault|Increased calvarial thickness|Increased thickness of cranium|Thickened skull cap|Increased thickness of calvarium|Thickened calvaria|Thick calvarium|Thickening of the calvaria|Thickened calvarium|Calvarial thickening|Increased thickness of cranial vault|Thickened cranium|Increased thickness of skull cap|Thick calvaria|Increased thickness of calvaria UMLS:C4280560|UMLS:C1858452 human_phenotype owl:Class N25be36fd34c24de28b56e93ef5ed8a34 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011270 biolink:NamedThing Duplicated tragus A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus. tmpxe7fu0cj_hp_relaxed.owl Accesory tragus|Tragus, duplicated UMLS:C4021172 It is unclear how often, or even whether, this feature which would represent a duplication of mandibular components, occurs. More common occurrences in this region would include preauricular tags and pretragial duplications of hyoid origin. peter 2011-12-18T07:58:04Z owl:Class N30238c5e40aa442e9de3ac98b3d37914 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N28c926fb413d447bb18837a0cc147724 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5d52036a5c774c58b7f89e49678ed998 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007297 biolink:NamedThing presumptive pronephric mesoderm A presumptive structure that has the potential to develop into a pronephric mesoderm. tmpxe7fu0cj_hp_relaxed.owl nephron primordium ZFA:0001070|EFO:0003619|TAO:0001070 uberon owl:Class UBERON:5001463 biolink:NamedThing manual digit 1 plus metapodial segment A subdivision of the autopod consisting of manual digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl manual digit I plus metapodial segment|manual digit 1 ray|manual digit 1 ( phalanges plus metapodial) plus soft tissue|manual digit 1|manual digit 1 digitopodial subdivision this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class UBERON:0003336 biolink:NamedThing serosa of duodenum A serous membrane that is part of a duodenum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl serous membrane of duodenum|doudenal serosa|visceral peritoneum of duodenum|duodenum serous membrane|duodenum serosa|duodenal serosa FMA:14948|MA:0003212|EMAPA:27247 uberon owl:Class 1st part serosa, 2nd - 4th adventitia CHEBI:18240 biolink:NamedThing 4-hydroxy-L-proline The L-stereoisomer of 4-hydroxyproline. tmpxe7fu0cj_hp_relaxed.owl hydroxy-L-proline|cis-4-Hydroxy-L-Proline|(2S)-4-hydroxypyrrolidine-2-carboxylic acid|4-Hydroxy-L-proline|4-hydroxy-L-proline|L-Hydroxyproline 0 C5H9NO3 InChI=1S/C5H9NO3/c7-3-1-4(5(8)9)6-2-3/h3-4,6-7H,1-2H2,(H,8,9)/t3?,4-/m0/s1 PMMYEEVYMWASQN-BKLSDQPFSA-N 131.12990 131.05824 OC1CN[C@@H](C1)C(O)=O Wikipedia:4-hydroxy-L-proline|HMDB:HMDB0006055|KNApSAcK:C00001370|KEGG:C01015|Reaxys:81441|CAS:51-35-4 CHEBI:11999|CHEBI:1852 chebi_ontology owl:Class HP:0012270 biolink:NamedThing Decreased muscle glycogen content A decreased amount of glycogen in muscle tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022979 peter 2013-04-07T02:05:15Z human_phenotype owl:Class Nff18537aac8947c8a5490ed13ad7b1cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc6035286292242d7ae9be4ea152bed5d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne3a4f5c4daa848bfb2d443746ca3fad8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na77d4457161c465b9007c93377397d2c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6da566886db740c7b1333435705f7ebc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410279 biolink:NamedThing Atrophic pituitary gland Partial or complete wasting (loss) of the pituitary gland. tmpxe7fu0cj_hp_relaxed.owl Atrophic pituitary|Pituitary gland atrophy 2018-10-30 19:54:09+00:00 owl:Class Nc9861b069f174eb69cdcfdcab9df0784 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021547 biolink:NamedThing midbrain-hindbrain boundary initiation The regionalization process that gives rise to the midbrain-hindbrain boundary. The midbrain-hindbrain domain of the embryonic brain is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages. An organizing center at the boundary patterns the midbrain and hindbrain primordia of the neural plate. tmpxe7fu0cj_hp_relaxed.owl isthmus biosynthesis|midbrain-hindbrain boundary formation|isthmus formation|MHB biosynthesis|midbrain-hindbrain boundary biosynthesis|MHB formation biological_process owl:Class GO:0021999 biolink:NamedThing neural plate anterior/posterior regionalization The process that regulates the coordinated growth and differentiation that establishes the non-random anterior-posterior spatial arrangement of the neural plate. tmpxe7fu0cj_hp_relaxed.owl neural plate anterior/posterior pattern formation biological_process owl:Class HP:0033091 biolink:NamedThing Tyrosinuria An abnormally increased level of tyrosine in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased tyrosine in urine peter owl:Class N0b437269b3354fb29c51674eb7a185e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0025004 biolink:NamedThing Hallux rigidus Osteoarthritis of the metatarsophalangeal joint of the first toe. tmpxe7fu0cj_hp_relaxed.owl Arthritis of the big toe 2016-06-25 09:23:22+00:00 MSH:D020859|UMLS:C0264134|SNOMEDCT_US:6654000 Hallux rigidus is characterised by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409]. HPO:probinson owl:Class N299b8af6df854603b37acbead7f8f573 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0018692 biolink:NamedThing dorsal side of post-anal tail tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0003165 biolink:NamedThing Elevated circulating parathyroid hormone level An abnormal increased concentration of parathyroid hormone. tmpxe7fu0cj_hp_relaxed.owl Elevated serum parathyroid hormone level|Elevated serum pth|Elevated circulating PTH level|Increased serum parathyroid hormone|Elevated serum parathyroid hormone UMLS:C0857973 human_phenotype owl:Class N8d00239debed4501943e08bae212f2a7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N43966f88353f42978fe2a6c154c1148f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N88f848afa49d4cd1b6ebc32011d85acd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd0cf8ee3a3f143f0adc1057e92910519 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006339 biolink:NamedThing third ventricle choroid plexus stroma A choroid plexus stroma that is part of a third ventricle. tmpxe7fu0cj_hp_relaxed.owl MA:0000881|EMAPA:37056 uberon owl:Class GO:0006956 biolink:NamedThing complement activation Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. tmpxe7fu0cj_hp_relaxed.owl complement activity|complement cascade|complement response biological_process owl:Class N55f9d5de785543949a6e67a0f69b4899 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001459 biolink:NamedThing 1-3 toe syndactyly Syndactyly with fusion of toes one to three. tmpxe7fu0cj_hp_relaxed.owl Webbed 1st-3rd toes UMLS:C4025774 owl:Class N2f33f72873ce43459bd0d4df54f267f7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf379aac9c6dc4f309a8364871e7d9ad3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd931b56c1cba47dd9d50c5dff54ffbb5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N40edb8ee01bc4ea992e92626c5473daa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008946 biolink:NamedThing lung parenchyma A parenchyma that is part of a lung. tmpxe7fu0cj_hp_relaxed.owl pulmonary parenchyma|parenchyma of lung|respiratory portion of lung SCTID:201712001|EMAPA:35522|MA:0003168|FMA:27360 uberon owl:Class GO:0042745 biolink:NamedThing circadian sleep/wake cycle The cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0005068 biolink:NamedThing neural rod A solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]. tmpxe7fu0cj_hp_relaxed.owl neural tube rod TAO:0000133|ZFA:0000133|EFO:0003498 uberon owl:Class An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube. Kimmel et al, 1995.[TAO] N611c4f4440554f27bcf5c383e2761533 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003904 biolink:NamedThing Wide epiphyses of the upper limbs tmpxe7fu0cj_hp_relaxed.owl Wide end part of upper limb bones|Broad epiphyses of the upper limbs UMLS:C4021709 human_phenotype owl:Class N5a9edef39aa64a618d074fd46ac726f3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nabbf96d6411b496883352f78a4346364 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncfe0b972bf60495596e48cfd8fdf8155 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0098926 biolink:NamedThing postsynaptic signal transduction Signal transduction in which the initial step occurs in a postsynapse. tmpxe7fu0cj_hp_relaxed.owl postsynaptic signaling pathway Do not directly annotate. This term is intended for automatically grouping annotations to signal transduction classes extended with has_start_location/occurs_in postsynapse or one of its parts. biological_process owl:Class UBERON:0015080 biolink:NamedThing proximal carpal bone pre-cartilage condensation A proximal carpal endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class N04c39253239b4e77b787f70dfc7e2d85 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:70958 biolink:NamedThing 1-methylhistidine A methylhistidine in which the methyl group is located at N-1. tmpxe7fu0cj_hp_relaxed.owl 1-methyl-DL-histidine|1-methylhistidine|2-amino-3-(1-methyl-1H-imidazol-4-yl)propanoic acid 0 C7H11N3O2 InChI=1S/C7H11N3O2/c1-10-3-5(9-4-10)2-6(8)7(11)12/h3-4,6H,2,8H2,1H3,(H,11,12) BRMWTNUJHUMWMS-UHFFFAOYSA-N 169.18110 169.08513 Cn1cnc(CC(N)C(O)=O)c1 Reaxys:611190|PMID:22770225 chebi_ontology owl:Class UBERON:0004679 biolink:NamedThing dentate gyrus molecular layer The molecular layer of the dentate gyrus that is bounded by the pial surface superficially and the dentate gyrus granule cell layer deep. It is divided into 2 or more sublayers. tmpxe7fu0cj_hp_relaxed.owl molecular layer of dentate gyrus|molecular layer of the dentate gyrus|stratum moleculare gyri dentati|dentate gyrus molecular layer EMAPA:35279|BAMS:Mol|MBA:10703|BAMS:mo|BIRNLEX:4127|FMA:83677|MA:0003122 uberon owl:Class HP:0030039 biolink:NamedThing Fused thoracic vertebrae A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022664 owl:Class Nc1608989b4a04ab0abcb1515671c75cc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012464 biolink:NamedThing cloacal vent The opening of the cloacal chamber to the outside of the organism. Birds maintain a single cloacal opening throughout their lives. tmpxe7fu0cj_hp_relaxed.owl vent|cloacal orifice|cloacal opening uberon owl:Class UBERON:0012076 biolink:NamedThing tibiotalar joint A skeletal joint that connects a tibia and connects a talus. tmpxe7fu0cj_hp_relaxed.owl talotibial joint|ankle joint|tibioastragalar joint uberon owl:Class see also FMA:44063 ! tibiotalar part of medial ligament of ankle joint Nfc065f677c6a401aa6f8aeb735cc0617 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005373 biolink:NamedThing spinal cord dorsal column The wedge-shaped fiber bundle of white matter in the dorsomedial side of the spinal cord that is made up of the fasciculus gracilis and fasciculus cuneatus; it is part of the ascending posterior column-medial lemniscus pathway that is important for well-localized fine touch and conscious proprioception. tmpxe7fu0cj_hp_relaxed.owl dorsal column|dorsal column system|posterior column|spinal cord posterior column|dorsal column of spinal cord|dorsal columns VHOG:0001623|MA:0002749|NCIT:C33355|EV:0100317|BAMS:dc|UMLS:C0458459|MBA:514 TODO - relationship with dorsal horn? uberon owl:Class The dorsolateral ridge of gray matter in each lateral half of the spinal cord. [TFD][VHOG] The dorsal column is a part of the spinal cord which is responsible for transporting sensory input from the body to the cerebral cortex. This part of the spinal cord is key in perceiving fine touch, such as that used to distinguish textures, along with vibration. The dorsal column also contributes to the body's system of proprioception, used to orient the body in space and to coordinate muscle movements, given information about the body's position GO:0019230 biolink:NamedThing proprioception The series of events by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception is mediated by proprioceptors, sensory nerve terminals found in muscles, tendons, and joint capsules, which give information concerning movements and position of the body. The receptors in the labyrinth are sometimes also considered proprioceptors. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Proprioception biological_process owl:Class HP:0001870 biolink:NamedThing Acroosteolysis of distal phalanges (feet) tmpxe7fu0cj_hp_relaxed.owl Acroosteolysis of distal phalanges of feet UMLS:C4025739 human_phenotype owl:Class N2b91a810f29840638fa8c944261c5f40 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003413 biolink:NamedThing Atlantoaxial abnormality An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025617 owl:Class N98b5d2fd79a942cc9368135ef73e8a31 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4cd90af635c1436e8475e474dfd273c7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N96bb6d0b85484f52a1e85eaf83eaeed1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0005615 biolink:NamedThing extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. tmpxe7fu0cj_hp_relaxed.owl intercellular space NIF_Subcellular:sao1425028079 Note that for multicellular organisms, the extracellular space refers to everything outside a cell, but still within the organism (excluding the extracellular matrix). Gene products from a multi-cellular organism that are secreted from a cell into the interstitial fluid or blood can therefore be annotated to this term. cellular_component owl:Class GO:0043209 biolink:NamedThing myelin sheath An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells: Schwann cells supply the myelin for peripheral neurons while oligodendrocytes supply it to those of the central nervous system. tmpxe7fu0cj_hp_relaxed.owl oligodendrocyte myelin sheath|astrocyte sheath|Schwann cell myelin sheath Wikipedia:Myelin|NIF_Subcellular:sao593830697|FMA:62983 cellular_component owl:Class HP:0030378 biolink:NamedThing Decreased proportion of immature B cells A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). tmpxe7fu0cj_hp_relaxed.owl Decreased proportion of CD19+/CD21low B cells UMLS:C4072917 owl:Class N9f34d4d68de341f8856ee5c8390402e5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:7500042 biolink:NamedThing line from the distal-most end of the longest phalax of the foot to the posterior-most part of the foot An anatomical line of a hindfoot that connects the end of the longest digit to the posterior-most part of a foot. tmpxe7fu0cj_hp_relaxed.owl https://orcid.org/0000-0003-2699-3066 uberon owl:Class HP:0040304 biolink:NamedThing Duplication of the sella turcica tmpxe7fu0cj_hp_relaxed.owl Duplicated sella turcica|Duplicate sella turcica owl:Class N42d1575ab174459590f6e63b1503a4cc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006076 biolink:NamedThing caudal region of vertebral column Subdivision of vertebral column that corresponds to the caudal subdivision of the body, containing the caudal vertebrae. tmpxe7fu0cj_hp_relaxed.owl caudal skeleton|axial skeleton tail region|caudal region|caudal vertebrae series|postsacral region|tail region AAO:0000082|EMAPA:18043|MA:0003158 uberon owl:Class Region of the vertebral column posterior to the caudal-sacral region, that may consists of two or three to more than 100 vertebrae. These vertebrae exhibit a gradual reduction in the sizes of their transverse processes and zygapophyses, but these structures are never entirely absent. All caudal vertebrae bear haemal arches.[AAO] in AAO, this is posterior to the caudal-sacral region HP:0003186 biolink:NamedThing Inverted nipples The presence of nipples that instead of pointing outward are retracted inwards. tmpxe7fu0cj_hp_relaxed.owl Inverted nipples|Invaginated nipples SNOMEDCT_US:82231009|UMLS:C0269269 human_phenotype owl:Class N168c7aa1aaad4eaebb5ddbaa50ecceae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2c191e3c86a441fabf98b2ea79973cc6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7f468ecc7ddc4e8eb7d01a1378d47ccc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2756e93342e245638e451c286f78fa29 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5004c6acf5d3465cbcfa524e36de0497 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010388 biolink:NamedThing proximal segment of rib The segment of the rib that connects to a vertebra[MP]. a small part of the rib composed of the head, neck, tuberculum and a short proximal part of the body[PMID]. tmpxe7fu0cj_hp_relaxed.owl proximal rib segment|vertebral part of rib|proximal part of rib|costal part of rib|proximal rib EMAPA:37495|MA:0001400|MA:0001414 The proximal rib derives from the caudal half of somite[PMID:15906248] uberon owl:Class UBERON:0004096 biolink:NamedThing odontoid process of cervical vertebra 2 The toothlike process on the upper surface of the axis, which articulates with the atlas above[GAID]. tmpxe7fu0cj_hp_relaxed.owl odontoid process|odontoid|dens axis|dens|axis odontoid process|dens of axis|cervical vertebra 2 odontoid process|axis dens|odontoid process of axis MESH:D009809|MA:0002872|GAID:238|OpenCyc:Mx4rwIYGoJwpEbGdrcN5Y29ycA|AAO:0000721|EMAPA:26535|UMLS:C0028881|FMA:24043|NCIT:C86970 TODO check AAO:0000721 odontoid_process -- Anterior process located between the atlantal cotyles that projects into the foramen magnum of the skull and bears facets that articulate with the lateral walls of the foramen UBERON:0005210 uberon owl:Class Anterior process located between the atlantal cotyles that projects into the foramen magnum of the skull and bears facets that articulate with the lateral walls of the foramen.[AAO] UBERON:0016512 biolink:NamedThing lumen of duodenum An anatomical space that is part of a duodenum. tmpxe7fu0cj_hp_relaxed.owl doudenal lumen|duodenal lumen EMAPA:19080|FMA:14589 uberon owl:Class HP:0003547 biolink:NamedThing Shoulder girdle muscle weakness The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. tmpxe7fu0cj_hp_relaxed.owl Weak shoulder muscles|Shoulder girdle weakness|Muscle weakness, shoulder-girdle|Shoulder weakness UMLS:C0748691|UMLS:C0427063|SNOMEDCT_US:249940002 HP:0003695|HP:0009009 owl:Class Nbcf0edeb4b9a4a14b4d45dcf240b374e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N607476fad84f4d138e4a0d578c7291c6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na030c55e0a9d475280ea82b1e1b68979 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011863 biolink:NamedThing bone collagen fibril The connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0001405 biolink:NamedThing Periportal fibrosis The presence of fibrosis affecting the interlobular stroma of liver. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849766 Liver fibrosis is not only the result of necrosis, collapse and scar formation but also the result of derangements in the synthesis and degradation of matrix by injured mesenchymal cells. human_phenotype owl:Class N30e7edfebe8543e0aad573a4eeac36d9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N31d3fc59594545cd90715bb873959aee biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1c52a74997fe48cf922d6a10b7ed801b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001838 biolink:NamedThing sublingual duct A duct of a sublingual gland. tmpxe7fu0cj_hp_relaxed.owl BTO:0004558|FMA:59983|MA:0002699|EMAPA:36564 uberon owl:Class GO:0008188 biolink:NamedThing neuropeptide receptor activity Combining with a neuropeptide to initiate a change in cell activity. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class N5068759c86674cfbaff141900be6015f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003406 biolink:NamedThing Peripheral nerve compression tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851414 human_phenotype owl:Class N5c08a54b692a4ae99f1775d27ce06c1d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007750 biolink:NamedThing metatarsophalangeal joint of pedal digit 1 A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 1. tmpxe7fu0cj_hp_relaxed.owl metatarsophalangeal joint of great toe|metatarsophalangeal joint of big toe|metatarsophalangeal joint of pedal digit I|metatarsophalangeal joint of first toe|metatarsophalangeal joint of first digit of foot|first metatarsophalangeal joint FMA:35228|EMAPA:26436|NCIT:C102321 uberon owl:Class the name of the structure in EMAPA is incorrect Ncd86e2b3eb7846e48273f6479a842d5f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N87ec06dd9ead4d81aa406bd12be2c772 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003984 biolink:NamedThing uterine tube infundibulum The funnel-like expansion of the abdominal extremity of the uterine tube[MP]. tmpxe7fu0cj_hp_relaxed.owl infundibulum of fallopian tube|infundibulum of oviduct|infundibulum|infundibulum tubae uterinae|infundibulum of uterine tube EMAPA:29897|FMA:18307 Illu:cervix.jpg uberon owl:Class The third part of the uterine tube is the infundibulum. It terminates with the ostium of Fallopian tube, surrounded by fimbriae, one of which is attached to the ovary[Wikipedia:Infundibulum_of_uterine_tube]. In mammals, the uterine tube infundibulum is part of the fallopian tube. In birds, where there is no fallopian tube, the uterine tube infundibulum is part of the oviduct. N866984b47c9a4f188634e44cdc643ef5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NBO:0000347 biolink:NamedThing gross motor coordination tmpxe7fu0cj_hp_relaxed.owl owl:Class N7d7ae51c1c264ad2ac5fec269db475e6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N54e48e2f1d67419c8602a53271a662d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3ca0e0ef343747578f2260c12222bf0b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007010 biolink:NamedThing cleaving embryo Organism at the cleavage stage. tmpxe7fu0cj_hp_relaxed.owl BILA:0000058 uberon owl:Class GO:0021593 biolink:NamedThing rhombomere morphogenesis The process in which the anatomical structure of the rhombomere is generated and organized. Rhombomeres are transverse segments of the developing rhombencephalon. Rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0200159 biolink:NamedThing Agenesis of primary mandibular lateral incisor tmpxe7fu0cj_hp_relaxed.owl Absence of lower front baby tooth|Agenesis of deciduous mandibular lateral incisor|Failure of development of primary mandibular lateral incisor|Absence of primary mandibular lateral incisor|Missing deciduous mandibular lateral incisor|Failure of development of deciduous mandibular lateral incisor|Absence of deciduous mandibular lateral incisor|Missing primary mandibular lateral incisor UMLS:C4280280|UMLS:C4280281|UMLS:C4021878 owl:Class Nefafe6dd544843589e87bc7f5347e209 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5fbe8e268d554356a6e3100ed26de299 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100866 biolink:NamedThing Short iliac bones Underdevelopment of the iliac bones. tmpxe7fu0cj_hp_relaxed.owl Short pelvis bones UMLS:C1849063 doelkens 2011-11-30T11:11:24Z human_phenotype owl:Class N81efbe95547b44bcbac5b7e8ca7ae811 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N183bf5e3f4cf4104b91e20a81a591ccc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1173eecf61ca4604941f7c4b203b3f14 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5d138c28f2f2415784d77380d91f4dd5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004004 biolink:NamedThing Irregular radial epiphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025453 human_phenotype owl:Class N06ee919a0d794d1884ae280c24140750 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N09be4dedff3a4eadad3bcb3dd899662f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0016880 biolink:NamedThing future nervous system Primordium that develops into the nervous system. tmpxe7fu0cj_hp_relaxed.owl presumptive nervous system AAO:0000477 UBERON:3000477 uberon owl:Class GO:0014009 biolink:NamedThing glial cell proliferation The multiplication or reproduction of glial cells by cell division, resulting in the expansion of their population. Glial cells exist throughout the nervous system, and include Schwann cells, astrocytes, and oligodendrocytes among others. tmpxe7fu0cj_hp_relaxed.owl glia proliferation biological_process owl:Class Nc45cae4f989a42d1bcacb68bfbb9bd5a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf005f8e95294484a87f6369424f2f39d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N51eadf22e10e4363bfe326a5229d8f8e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004411 biolink:NamedThing proximal epiphysis of humerus The upper extremity of the humerus (proximal humerus) consists of a large rounded head joined to the body by a constricted portion called the neck, and two eminences, the greater and lesser tubercles. tmpxe7fu0cj_hp_relaxed.owl proximal humerus|upper extremity of humerus|upper end of humerus|humeral head|proximal humeral epiphysis|head of the humerus|proximal end of humerus FMA:23362 http://upload.wikimedia.org/wikipedia/commons/a/ad/Gray207.png uberon owl:Class N7557a0aa7c5b4cb0b3e59cb2a6106ea6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100524 biolink:NamedThing Limb duplication Congenital duplication of all or part of a limb. tmpxe7fu0cj_hp_relaxed.owl Limb duplication|Dimelia SNOMEDCT_US:34488005|UMLS:C0265551 doelkens 2010-12-20T11:32:41Z owl:Class N84aa49d70084404f9a13fe06da2592f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8791ee2aa33e4d76bd52af02e3506efa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001088 biolink:NamedThing urine Excretion that is the output of a kidney. tmpxe7fu0cj_hp_relaxed.owl OpenCyc:Mx4rvVjGppwpEbGdrcN5Y29ycA|FMA:12274|MIAA:0000058|ENVO:00002047|CALOHA:TS-1092|NCIT:C13283|EFO:0001939|BTO:0001419|MAT:0000058|galen:Urine|EMAPA:36554|MESH:D014556|GAID:1189|UMLS:C0042036|MA:0002545 uberon owl:Class kidney excreta from some taxa (e.g. in aves) may not be liquid CL:2000063 biolink:NamedThing ovarian fibroblast Any fibroblast that is part of a female gonad. tmpxe7fu0cj_hp_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7330 TermGenie 2014-10-07T17:57:42Z cell owl:Class Nadbc87a4b5f94e2496a785ad67b05fdb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006595 biolink:NamedThing presumptive endoderm Presumptive structure of the blastula that will develop into endoderm. tmpxe7fu0cj_hp_relaxed.owl TAO:0000416|EFO:0003437|AAO:0000471|ZFA:0000416 uberon owl:Class HP:0001239 biolink:NamedThing Wrist flexion contracture A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. tmpxe7fu0cj_hp_relaxed.owl Wrist contracture|Wrist flexion deformity SNOMEDCT_US:202275008|UMLS:C0409345 HP:0006137|HP:0006049 human_phenotype owl:Class N6ee90e2d8dbd4d099401f793e2efe398 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003851 biolink:NamedThing diencephalon neural crest A neural crest that has_potential_to_developmentally_contribute_to a diencephalon. tmpxe7fu0cj_hp_relaxed.owl neural crest of future diencephalon|neural crest diencephalon|future diencephalon neural crest|diencephalic neural crest TAO:0000811|EHDAA2:0000603|ZFA:0000811|EMAPA:16518|VHOG:0000798|EFO:0003573 uberon owl:Class We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] UBERON:0003218 biolink:NamedThing ovary septum Septum that divides the ovary, the basal portion of a carpel or group of fused carpels, that encloses the ovule(s)[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0001473 biolink:NamedThing Metatarsal osteolysis Osteolysis involving metatarsal bones. tmpxe7fu0cj_hp_relaxed.owl Osteolysis involving metatarsal bones UMLS:C1854614 peter 2008-04-17T02:38:00Z HP:0001866 human_phenotype owl:Class N3e92275ecc0c4cfeb83b5ea97f4fa120 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:15740 biolink:NamedThing formate A monocarboxylic acid anion that is the conjugate base of formic acid. Induces severe metabolic acidosis and ocular injury in human subjects. tmpxe7fu0cj_hp_relaxed.owl methanoate|hydrogen carboxylate|HCO2 anion|aminate|formate|formic acid, ion(1-)|formylate|formiate -1 CHO2 InChI=1S/CH2O2/c2-1-3/h1H,(H,2,3)/p-1 BDAGIHXWWSANSR-UHFFFAOYSA-M 45.01744 44.99820 [H]C([O-])=O UM-BBD_compID:c0106|Beilstein:1901205|KEGG:C00058|Reaxys:1901205|Wikipedia:Formate|CAS:71-47-6|PMID:3946945|MetaCyc:FORMATE|HMDB:HMDB0000142|PMID:17190852|Gmelin:1006 CHEBI:24081|CHEBI:14276 chebi_ontology owl:Class N969b9307aa5a449c9403eb1ac4ff58d1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8bfbd365a4144393bf03709fda8c77d1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0110021 biolink:NamedThing cardiac muscle myoblast proliferation The multiplication or reproduction of cardiac muscle myoblasts, resulting in the expansion of a cardiac muscle myoblast cell population. A cardiac myoblast is a precursor cell that has been committed to a cardiac muscle cell fate but retains the ability to divide and proliferate throughout life. tmpxe7fu0cj_hp_relaxed.owl kmv 2017-06-29T14:35:24Z biological_process owl:Class UBERON:0001809 biolink:NamedThing enteric ganglion tmpxe7fu0cj_hp_relaxed.owl intramural ganglion UMLS:C0501399|FMA:5896|EMAPA:35312|NCIT:C52709|MA:0001144 uberon owl:Class HP:0012814 biolink:NamedThing Bilateral breast hypoplasia Underdevelopment of the breast on both sides. tmpxe7fu0cj_hp_relaxed.owl Two underdeveloped breasts UMLS:C4022716 hecht 2014-05-26T08:12:34Z human_phenotype owl:Class Nc5c95f752e5d44e38c65966c62763884 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N487b5d346f3240eeb1dd5405257ceb2a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500214 biolink:NamedThing Abnormal CSF aromatic amino acid concentration Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal aromatic amino acid levels in cerebrospinal fluid 2019-02-25 19:28:05+00:00 owl:Class Nf9f57201c74b45709ac2abb7dc28bfa2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na6a3089eedf648c5b5877797e98973bd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003371 biolink:NamedThing Enlargement of the proximal femoral epiphysis An abnormal enlargement of the proximal epiphysis of the femur. tmpxe7fu0cj_hp_relaxed.owl Enlarged capital femoral epiphyses|Enlarged end part of innermost thighbone UMLS:C1859697 human_phenotype owl:Class N02595f5923c042c6b0c9900697fdb328 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002135 biolink:NamedThing Basal ganglia calcification The presence of calcium deposition affecting one or more structures of the basal ganglia. tmpxe7fu0cj_hp_relaxed.owl Basal ganglion calcification|Calcification of the basal ganglia|Basal ganglia calcifications UMLS:C1389280 HP:0002485 human_phenotype owl:Class N5656e244d1ea43e588c26a21f6e816c4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010941 biolink:NamedThing Aplasia of the nasal bone Absence of the nasal bone. tmpxe7fu0cj_hp_relaxed.owl Missing nasal bone|Agenesis of the nasal bone|Failure of development of the nasal bone|Absence of the nasal bone|Lack of development of the nasal bone UMLS:C0339851|MSH:C562753|UMLS:C4023635|SNOMEDCT_US:91900007|UMLS:C0339850 peter 2011-01-16T02:32:39Z owl:Class N53dd3621d5974b3c93eb71edf1461a44 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010081 biolink:NamedThing Patchy sclerosis of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the outermost bone of big toe UMLS:C4024064 doelkens 2009-05-29T12:16:28Z human_phenotype owl:Class Nce17dbd74be4418b98365502eeb0bd35 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003179 biolink:NamedThing Protrusio acetabuli Intrapelvic bulging of the medial acetabular wall. tmpxe7fu0cj_hp_relaxed.owl Abnormally indented hip sockets|Protrusio acetabulae SNOMEDCT_US:59606006|UMLS:C0409495 Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head. owl:Class Na7051de8402946508657748d32a27625 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0031783 biolink:NamedThing Absent coronary sinus A developmental defect in which the coronary sinus fails to form. tmpxe7fu0cj_hp_relaxed.owl 2018-01-28 12:02:56+00:00 Fyler:2841 peter owl:Class N6b0f319f9a8b4500bc24c8451b6faf07 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na29806b4281a41f0bf600eddb53cd73e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N59da5445ee58420ca076b81c4bce2d57 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0030168 biolink:NamedThing platelet activation A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. tmpxe7fu0cj_hp_relaxed.owl blood coagulation, platelet activation biological_process owl:Class CL:0000020 biolink:NamedThing spermatogonium An euploid male germ cell of an early stage of spermatogenesis. tmpxe7fu0cj_hp_relaxed.owl spermatogonial cell CALOHA:TS-2193|FMA:72291|FBbt:00004935|EMAPA:31482|BTO:0000958 cell owl:Class N070e1e3d37bd41109f90488ef8e3cb4d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008310 biolink:NamedThing nasopharyngeal gland A gland that is part of a nasopharynx. tmpxe7fu0cj_hp_relaxed.owl FMA:55076 uberon owl:Class N4eb89b6b557946259e1fa538552df3bf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N61c4bb750431454086610d3ce442331a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0042330 biolink:NamedThing taxis The directed movement of a motile cell or organism in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl directed movement in response to stimulus Wikipedia:Taxis biological_process owl:Class Ne3baf0a9fe5a494db44dc9d63712effb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N278fdce7323243938629ac7e88a99439 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne57be741d4e0434d8561200a7addb022 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6c802421494e4b7895d9485d74a5fec4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb2cef6d915bc4ff0b5cc0a065afeb2a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000307 biolink:NamedThing Pointed chin A marked tapering of the lower face to the chin. tmpxe7fu0cj_hp_relaxed.owl Small pointed chin|Witch's chin|Pointed chin|Pointy chin|Pointed mention region UMLS:C1844505 The two rami of the mandible meet at an acute angle. HP:0005330 human_phenotype owl:Class N99bf6d3ab5214c2694c212cbc8439ada biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010364 biolink:NamedThing dermal skeleton Skeletal subdivision that undergoes direct development and includes elements that either develop in association with the basement membrane of the ectoderm or are homologous with such elements; includes dermatocranium, components of the appendicular skeleton, teeth and tooth-like elements of the oropharynx, and integumentary elements. tmpxe7fu0cj_hp_relaxed.owl dermal skeletal system|desmoskeleton|dermoskeleton|exoskeleton VSAO:0000035|XAO:0004025 This ontology covers metazoa, so we do not use exoskeleton as primary label, as in VSAO uberon owl:Class N3e693afca1884aa6886485765df763f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001245 biolink:NamedThing Small thenar eminence Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. tmpxe7fu0cj_hp_relaxed.owl Thenar muscle hypoplasia|Hypoplastic thenar eminences|Decreased thenar eminence|Thenar hypoplasia UMLS:C1846474 The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal. When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally. HP:0006188 human_phenotype owl:Class Nb6ba528fa4cf457495f3d2ea02603af6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5cdab0cf90414284a53cb9ae0d079f35 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncf12bedf01354df8aae81cc2dae9edcc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N096365c0762d4d3a8117dde041a769b4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021872 biolink:NamedThing forebrain generation of neurons The process in which nerve cells are generated in the forebrain. This includes the production of neuroblasts from and their differentiation into neurons. tmpxe7fu0cj_hp_relaxed.owl generation of neurons in forebrain biological_process owl:Class UBERON:0012429 biolink:NamedThing hematopoietic tissue Blood-forming tissue, consisting of reticular fibers and cells. tmpxe7fu0cj_hp_relaxed.owl hemopoietic tissue|hematopoietic tissue|haemopoietic tissue|bone marrow tissue|textus haemopoieticus FMA:14073|UMLS:C0229619|NCIT:C13051|CALOHA:TS-2142 uberon owl:Class Bone marrow in humans, kidney interstitium in Danio, within a stroma of reticuloendothelial tissue Ne9de7e736a4b4049a26801b044e258b6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012207 biolink:NamedThing Reduced sperm motility An abnormal reduction in the mobility of ejaculated sperm. tmpxe7fu0cj_hp_relaxed.owl Asthenospermia|Reduced sperm motility UMLS:C4023002 peter 2013-03-12T12:23:59Z human_phenotype owl:Class N92a98cabe95c487ba779804342896123 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:27470 biolink:NamedThing folic acid An N-acyl-amino acid that is a form of the water-soluble vitamin B9. Its biologically active forms (tetrahydrofolate and others) are essential for nucleotide biosynthesis and homocysteine remethylation. tmpxe7fu0cj_hp_relaxed.owl (2S)-2-(4-{[(2-amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzamido)pentanedioic acid|acide folique|pteroyl-L-glutamic acid|pteroylmonoglutamic acid|vitamin Be|pteroyl-L-monoglutamic acid|Acfol|pteroylglutamic acid|Folsaeure|N-pteroyl-L-glutamic acid|acido folico|PGA|Folicet|N-(4-{[(2-amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid|Folate|vitamin M|folic acid|PteGlu|vitamin Bc|acidum folicum|vitamin B11|vitamin B9|N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid 0 C19H19N7O6 InChI=1S/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s1 OVBPIULPVIDEAO-LBPRGKRZSA-N 441.39750 441.13968 Nc1nc2ncc(CNc3ccc(cc3)C(=O)N[C@@H](CCC(O)=O)C(O)=O)nc2c(=O)[nH]1 Reaxys:100781|PMID:8235383|PMID:15754725|PMID:10897644|Drug_Central:1231|PMID:11959400|PMID:16380297|PMID:10138938|PMID:19121630|PMID:9683174|KEGG:C00504|PMID:7738698|HMDB:HMDB0000121|PMID:9808641|PMID:16871332|PMID:19355913|PMID:33624660|PMID:15321809|KEGG:D00070|PMID:11261364|PMID:10958818|AGR:IND606960789|PMID:15797531|PMID:33968971|PMID:16093404|KNApSAcK:C00001539|Wikipedia:Folic_Acid|PMID:15990733|MetaCyc:CPD-12826|PMID:15523939|PMID:15831910|PMID:11451208|PMID:9808640|Chemspider:5815|PMID:33965562|PMID:16277678|PMID:9781393|PMID:14387833|DrugBank:DB00158|PMID:24650098|PMID:18788725|PMID:9420019|CAS:59-30-3|PMID:9565830|PMID:19335717|PMID:34207319|LINCS:LSM-5355|PDBeChem:FOL|PMID:9040515|PMID:17784727|FooDB:FDB014504|PMID:34219855|Beilstein:100781|PMID:15797685 CHEBI:569217|CHEBI:24075|CHEBI:5140|CHEBI:42610 chebi_ontology owl:Class GO:0016874 biolink:NamedThing ligase activity Catalysis of the joining of two molecules, or two groups within a single molecule, using the energy from the hydrolysis of ATP, a similar triphosphate, or a pH gradient. tmpxe7fu0cj_hp_relaxed.owl synthetase activity https://github.com/geneontology/go-ontology/issues/19380 EC:6.-.-.- molecular_function owl:Class GO:0048341 biolink:NamedThing paraxial mesoderm formation The process that gives rise to the paraxial mesoderm. This process pertains to the initial formation of the structure from unspecified parts. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N91a869559f7e4c8798f01e1f74c7ae6a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007724 biolink:NamedThing interphalangeal joint of pedal digit 1 An interphalangeal joint of pes that is part of a pedal digit 1. tmpxe7fu0cj_hp_relaxed.owl interphalangeal joint of great toe|interphalangeal joint of pedal digit 1|interphalangeal joint of first digit of foot|interphalangeal joint of first toe|interphalangeal joint of foot digit 1|interphalangeal joint of big toe|interphalangeal joint of first digit of pes|interphalangeal joint of hallux|interphalangeal joint of pedal digit I EMAPA:26430|FMA:35353 uberon owl:Class UBERON:3000972 biolink:NamedThing head external integument structure Dermal, epidermal, glandular and pigment structures of the external head integument. tmpxe7fu0cj_hp_relaxed.owl amphibian_anatomy_curators uberon owl:Class This class was sourced from an external ontology (amphibian_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon HP:0003183 biolink:NamedThing Wide pubic symphysis Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. tmpxe7fu0cj_hp_relaxed.owl Wide symphysis of pubis UMLS:C1857190 human_phenotype owl:Class N9b56e83edbd74db2bd7dfdf4ae74de9c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N78895b8e1f2c41328963bc03c878e47b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0045229 biolink:NamedThing external encapsulating structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell. tmpxe7fu0cj_hp_relaxed.owl external encapsulating structure organisation|external encapsulating structure organization and biogenesis biological_process owl:Class GO:0048755 biolink:NamedThing branching morphogenesis of a nerve The process in which the anatomical structures of branches in a nerve are generated and organized. This term refers to an anatomical structure (nerve) not a cell (neuron). tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0014866 biolink:NamedThing skeletal myofibril assembly The process whose specific outcome is the progression of the skeletal myofibril over time, from its formation to the mature structure. A skeletal myofibril is a myofibril specific to skeletal muscle cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0033059 biolink:NamedThing cellular pigmentation The deposition or aggregation of coloring matter in a cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N3d501a50eaea4eb5b78210252450d21b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:64049 biolink:NamedThing food acidity regulator A food additive that is used to change or otherwise control the acidity or alkalinity of foods. They may be acids, bases, neutralising agents or buffering agents. tmpxe7fu0cj_hp_relaxed.owl acidity regulators|pH control agents|food acidity regulators|pH control agent|acidity regulator Wikipedia:Acidity_regulator chebi_ontology owl:Class HP:0009188 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 5th finger A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024548 doelkens 2008-12-30T12:28:19Z human_phenotype owl:Class Neadaa1d57cd0414a95d3eb09e49d7ed2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc9a632a1e903476493632958c11d8aa3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010548 biolink:NamedThing pedal digit 2 metatarsal pre-cartilage condensation A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 2 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl hind limb digit 2 metatarsal pre-cartilage condensation|toe 2 metatarsal pre-cartilage condensation|foot digit 2 metatarsal pre-cartilage condensation|pedal digit II metatarsal pre-cartilage condensation EMAPA:17727|EHDAA2:0002045 uberon owl:Class UBERON:0003820 biolink:NamedThing prostate bud A region of the fetal urogenital sinus epithelium destined to become the prostate[GO]. tmpxe7fu0cj_hp_relaxed.owl prostatic bud|prostate ductal progenitor|prostate gland bud|prostate primordium EMAPA:36141 uberon owl:Class AR activation releases instructive signals from UGM that acts on UGS epithelium (UGE) to stimulate cell proliferation, form prostate ductal progenitors (prostatic buds), and regulate cell adhesion dynamics to permit prostatic bud outgrowth. There are three phases of prostatic budding: (1) the specification phase, when instructive developmental cues define where buds will form in the UGS, (2) the initiation phase, when prostatic buds begin to form, and (3) the elongation phase, when proliferation, cell adhesion, and cell migration coordinate outgrowth of prostatic buds into UGM. Timing of prostatic bud formation and the quantity and pattern of buds that are formed in the UGS are strictly regulated [3, 4]. The position of prostatic buds as they emerge from the UGS in utero determines the arrangement of prostate ducts in adulthood.[PMID:18977204] UBERON:0034736 biolink:NamedThing coracoclavicular ligament Any ligament that connects the coracoid process with the clavicle. tmpxe7fu0cj_hp_relaxed.owl accessory ligament of acromioclavicular joint FMA:26029 uberon owl:Class Ne242169c03254eb19bfcbe8fa047cfd3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1f725b984f284d95b93eb6f15f066727 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003332 biolink:NamedThing submucosa of duodenum A submucosa that is part of a duodenum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl duodenal submucosa|duodenum submucosa|doudenal submucosa FMA:14943|EMAPA:27097|EMAPA:27027|EMAPA:27239|MA:0003213 uberon owl:Class Nd21b0710cbdc4f508c0a8c9263fe1c04 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011049 biolink:NamedThing Agenesis of primary maxillary lateral incisor Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor. tmpxe7fu0cj_hp_relaxed.owl Absence of deciduous maxillary lateral incisor|Failure of development of primary maxillary lateral incisor|Failure of development of deciduous maxillary lateral incisor|Agenesis of deciduous maxillary lateral incisor|Missing deciduous maxillary lateral incisor|Missing primary maxillary lateral incisor|Absence of primary maxillary lateral incisor UMLS:C4280353|UMLS:C4023568 peter 2011-03-10T11:31:10Z human_phenotype owl:Class N664d23e12c3e4361997fdf2afa29a084 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003145 biolink:NamedThing Decreased adenosylcobalamin Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12. tmpxe7fu0cj_hp_relaxed.owl Decreased ADOCBL UMLS:C1848556 human_phenotype owl:Class Nfd030cc2fe34430f92b53efd1ea25995 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010810 biolink:NamedThing Long uvula Increased length of the uvula. tmpxe7fu0cj_hp_relaxed.owl Elongated uvula|Long palatine uvula|Hyperplasia of uvula UMLS:C4023697|UMLS:C4280362 In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer. peter 2010-07-05T10:23:52Z owl:Class Nbf2ceaba344e4ab1ae72299578970d09 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011135 biolink:NamedThing intervertebral cartilage A cartilage element that lies between two successive vertebral centra. tmpxe7fu0cj_hp_relaxed.owl AAO:0000795 uberon owl:Class Block of cartilage, which usually ossifies, that lies between successive vertebral centra.[AAO] UBERON:0011861 biolink:NamedThing aorta collagen fibril The connective tissue bundles in the extracellular matrix of aorta tissue that are composed of collagen, and play a role in tissue strength and elasticity. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0004664 biolink:NamedThing aorta tunica adventitia The outermost layer of the aorta wall, containing connective tissue and collagen and elastic fibers. tmpxe7fu0cj_hp_relaxed.owl tunica adventitia of aorta EMAPA:35136|FMA:14283|SCTID:24996002|MA:0002902 uberon owl:Class N4156b66e3290466199714a1044890939 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2ebcbdbf826c4338b950f4f91a589f13 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003353 biolink:NamedThing epithelium of hindgut An epithelium that is part of a hindgut [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hindgut epithelial tissue|hindgut epithelium|epithelial tissue of hindgut EHDAA2:0000782|EMAPA:16717|MA:0003206 uberon owl:Class N98d9341deffb447caebef3640378a1bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012486 biolink:NamedThing Myelitis Inflammation of the spinal cord. tmpxe7fu0cj_hp_relaxed.owl Inflammation of spinal cord UMLS:C0026975|SNOMEDCT_US:41370002|MSH:D009187 peter 2013-11-29T08:10:12Z human_phenotype owl:Class Nd6faa5a6075f423e934e50548c91c8fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na9bc9240b01b4474a80957d1cb15a2b0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na4a78a306b904f52a2d5d94e79636a9a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2685fa09af3b4b9a9a46595ff0963702 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0002320 biolink:NamedThing lymphoid progenitor cell differentiation The process in which a precursor cell type acquires the specialized features of a lymphoid progenitor cell. Lymphoid progenitor cells include progenitor cells for any of the lymphoid lineages. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Nf0ffd5b4826f4e9a983ee2df0bfc0a59 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035316 biolink:NamedThing prostatic capsule The membrane the surrounds the prostate gland. tmpxe7fu0cj_hp_relaxed.owl capsule of prostate gland|capsule of prostate FMA:19583|NCIT:C13086 uberon owl:Class UBERON:0006633 biolink:NamedThing coracoid process of scapula A process of the scapula in most mammals representing the remnant of the coracoid bone of lower vertebrates thas has become fused with the scapula. tmpxe7fu0cj_hp_relaxed.owl coracoid process of the scapula|coracoid process|processus coracoideus FMA:13455|EMAPA:25121 http://upload.wikimedia.org/wikipedia/commons/a/a6/Gray205_left_scapula_lateral_view.png uberon owl:Class The coracoid process is a small hook-like structure on the lateral edge of the superior anterior portion of the scapula. Pointing laterally forward, it, together with the acromion, serves to stabilize the shoulder joint. It is palpable in the deltopectoral groove between the deltoid and pectoralis major muscles. It is the site of attachment for several structures: * The pectoralis minor muscle - to 3rd to 5th ribs. * The short head of biceps brachii muscle - to Radial tuberosity. * The coracobrachialis muscle - to medial humerus. * The coracoclavicular ligament - to the clavicle. (The ligament is formed by the conoid ligament and trapezoid ligament.) * The coracoacromial ligament - to the acromion[WP][Wikipedia:Coracoid_process]. In humans is situated on its superior border and serves for the attachment of various muscles GO:0016311 biolink:NamedThing dephosphorylation The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Dephosphorylation biological_process owl:Class N511fe32d5f0a4d40af06b1d90ae7662d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012699 biolink:NamedThing Anomaly of lower limb diaphyses A structural abnormality of a diaphysis of the leg. tmpxe7fu0cj_hp_relaxed.owl Anomaly of shaft of long bone of lower limb UMLS:C4022767 peter 2014-03-22T06:14:15Z human_phenotype owl:Class N4e6cc14a286b498b845a5300987e4ae5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc028eb6e0ef84de1acc2db9c8b031bef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002017 biolink:NamedThing Kit-negative, Ly-76 high orthochromatophilic erythroblasts An orthochromatophilic erythroblast that is ter119-high, CD71-low, and Kit-negative. tmpxe7fu0cj_hp_relaxed.owl Cell surface markers associated with mouse cells. tmeehan 2010-04-26T11:04:15Z cell owl:Class Nb1c2b058bbeb4a1198713e3b9c55a2d2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003124 biolink:NamedThing Hypercholesterolemia An increased concentration of cholesterol in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated total cholesterol|Elevated serum cholesterol|Increased total cholesterol|High cholesterol SNOMEDCT_US:13644009|UMLS:C0020443|UMLS:C0595929|MSH:D006937|SNOMEDCT_US:166830008 HP:0008173|HP:0008154|HP:0008359 owl:Class N1cd86a79559a4b009ee24ae43a91695b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd8c5507dd2594e088c853ff735fb96ad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002258 biolink:NamedThing dorsal funiculus of spinal cord The white substance of the spinal cord lying on either side between the posterior median sulcus and the dorsal root. tmpxe7fu0cj_hp_relaxed.owl dorsal funiculus of spinal cord|posterior white column of spinal cord|posterior funiculus of spinal cord|funiculus posterior medullae spinalis|funiculus dorsalis|dorsal white column of spinal cord|posterior funiculus|dorsal funiculus ZFA:0000501|TAO:0000501|FMA:77461 http://upload.wikimedia.org/wikipedia/commons/d/dc/Medulla_spinalis_-_Section_-_English.svg ZFA class is undefined. We currently do not place this as part of the DCML pathway as this would lead to taxon constraint violations. uberon owl:Class GO:1905383 biolink:NamedThing protein localization to presynapse A process in which a protein is transported to, or maintained in, a location within a presynapse. tmpxe7fu0cj_hp_relaxed.owl recruitment of presynaptic proteins|protein localisation to presynapse|protein localisation in presynapse|protein localization in presynapse dos 2016-08-18T14:42:59Z biological_process owl:Class HP:0010504 biolink:NamedThing Increased length of the tibia An abnormal increase in the length of the tibia. tmpxe7fu0cj_hp_relaxed.owl Increased length of shankbone|Increased length of shinbone UMLS:C4021864 peter 2009-09-19T09:46:37Z human_phenotype owl:Class Nb28ef1c220e2431882318e52cab34003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003153 biolink:NamedThing Cystathioninuria An elevated urinary concentration of cystathionine. tmpxe7fu0cj_hp_relaxed.owl High urine cystathionine levels UMLS:C0220993|SNOMEDCT_US:13003007 Cystathionine can be directly interconverted to cysteine. Normal cystathione urinary values are under 150 micromole per gram creatinine. owl:Class N2da751ec739542f7855c76991200df30 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N413ec8776beb421ba671b6e9fe5c9fc4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd896e98cae6f4c39a31c8ee298e420f2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0017654 biolink:NamedThing buccal gland Any of the small racemose mucous glands in the mucous membrane lining the cheeks. tmpxe7fu0cj_hp_relaxed.owl cheek gland BTO:0005767 uberon owl:Class N27b50220eb0b47ff818ba995bd5d2366 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1d6c4312d7c6436b8a4d6868394686a5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N742584cb896f40babeb12e4afc7d7397 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8c3cad5c69b842b0b06fb52853a5b6b8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9862ea0db9c44b2189ee393003ea5a08 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6819fc879d92457b924add2c65b9c6e5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0045647 biolink:NamedThing negative regulation of erythrocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of erythrocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl negative regulation of red blood cell differentiation|down regulation of erythrocyte differentiation|inhibition of erythrocyte differentiation|down-regulation of erythrocyte differentiation|downregulation of erythrocyte differentiation|negative regulation of RBC differentiation biological_process owl:Class HP:0410167 biolink:NamedThing Abnormal morphology of the chest musculature Any abnormality of the chest muscles. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the chest musculature|Muscle issues in the chest 2018-05-01 17:37:03+00:00 owl:Class Na16c30e86992454489fd2a74b53a4ec9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000192 biolink:NamedThing smooth muscle cell A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast). tmpxe7fu0cj_hp_relaxed.owl SMCs|non-striated muscle cell|myocytes, smooth muscle|smooth muscle fiber FMA:14072|CALOHA:TS-2159|BTO:0004576 CL:0000191 cell owl:Class N53066333ee8c4013b9458d2ba1f724d7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf978a7722d61432c88d70f2bf90335ed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410050 biolink:NamedThing Decreased level of 1,5 anhydroglucitol in serum A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues. tmpxe7fu0cj_hp_relaxed.owl Decreased level of 1,5-anhydroglucitol in serum|Decreased level of 1,5-AG in serum|Decreased level of 1,5-anhydro-D-glucitol in serum 2018-01-27 00:26:24+00:00 ORCID:0000-0001-5208-3432 owl:Class N1ce92db138f24ecface08eeab5689a3e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410386 biolink:NamedThing Decreased proportion of CD4-positive, alpha-beta memory T cells Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. tmpxe7fu0cj_hp_relaxed.owl owl:Class Naf036dd02793417f87470cff8b968656 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6dfd06b5acf647e18181e87b63d836f2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8f0f66788ef34cf6b66d9d25b30619d6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N72fcc36fb2b74085a86ba6e6940fc063 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf4c329a7102843d480616b1e8d5daa24 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000446 biolink:NamedThing chief cell of parathyroid gland An epithelial cell of the parathyroid gland that is arranged in wide, irregular interconnecting columns; responsible for the synthesis and secretion of parathyroid hormone. tmpxe7fu0cj_hp_relaxed.owl parathyroid gland chief cell|parathyroid hormone secreting cell|principal cell of parathyroid gland|parathyroid chief cell FMA:69078|BTO:0004712|CALOHA:TS-2140 cell owl:Class UBERON:0014401 biolink:NamedThing renal venous blood vessel Any member of the network of tubes that return blood from the renal tissues to the systemic circulation. tmpxe7fu0cj_hp_relaxed.owl venous blood vessel of kidney|kidney venous system|kidney venous blood vessel EMAPA:31450|MA:0002591 uberon owl:Class we follow MA and MP in distinguishing the venous blood vessel from the vein. The kidney cortex vein is not considered a renal vein, nor is the vasa recta GO:0005774 biolink:NamedThing vacuolar membrane The lipid bilayer surrounding the vacuole and separating its contents from the cytoplasm of the cell. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class CHEBI:133744 biolink:NamedThing homovanillate A hydroxy monocarboxylic acid anion which is obtained by deprotonation of the carboxy group of homovanillic acid. tmpxe7fu0cj_hp_relaxed.owl 3-methoxy-4-hydroxyphenylacetate|(4-hydroxy-3-methoxyphenyl)acetate -1 C9H9O4 InChI=1S/C9H10O4/c1-13-8-4-6(5-9(11)12)2-3-7(8)10/h2-4,10H,5H2,1H3,(H,11,12)/p-1 QRMZSPFSDQBLIX-UHFFFAOYSA-M 181.166 181.05063 C1=C(C(=CC(=C1)CC([O-])=O)OC)O chebi_ontology owl:Class GO:0099143 biolink:NamedThing presynaptic actin cytoskeleton The actin cytoskeleton that is part of a presynapse. tmpxe7fu0cj_hp_relaxed.owl dos 2017-06-09T18:36:19Z cellular_component owl:Class HP:0032254 biolink:NamedThing Increased circulating copper concentration An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration. tmpxe7fu0cj_hp_relaxed.owl Elevated serum copper|Hypercupremia 2019-01-27 17:13:31+00:00 peter owl:Class N5bf89f990e594466aa24a8ec5fb021bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008987 biolink:NamedThing renal parenchyma The functional tissue of the kidney, consisting of the nephrons. tmpxe7fu0cj_hp_relaxed.owl kidney parenchyma|parenchyma of kidney FMA:15574|BTO:0003604 uberon owl:Class Nf620a93b78ef44d5ac641266159a9c86 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006938 biolink:NamedThing pinna surface epithelium An epithelium that is part of a pinna. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0001470|VHOG:0000632|EMAPA:17592|EHDAA:8983 uberon owl:Class N1af61a6d399b4e188ee002ba7cab059c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nad5445e753d04afb887c3c4c731c7412 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N524ce087f2d74171803990d96e7a1a2f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2ba1860f90a1432faffd17d2436e94e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N331cc9354b014013a692ab87d46c1040 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0002299 biolink:NamedThing tubular A cylindrical shape that is hollow. tmpxe7fu0cj_hp_relaxed.owl tube like|tubulate|tube-shaped 2011-06-08T06:33:50Z quality owl:Class N961388cc85a441bb817a895af739ff94 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na18b063fd2514194a5388a0d8527eac8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N83611c684d454ca59e29dd7b0be4548a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:29793 biolink:NamedThing hydridodioxygen(1+) tmpxe7fu0cj_hp_relaxed.owl hydridodioxygen(1+)|dioxidenium|HOO(+)|[HO2](+)|HO2(+) +1 HO2 InChI=1S/O2/c1-2/p+1 MYMOFIZGZYHOMD-UHFFFAOYSA-O 33.00674 32.99711 [H][O+]=O Gmelin:508 chebi_ontology owl:Class Nd3fb779d384f46d297f6227b2cd48113 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0120275 biolink:NamedThing cerebral blood circulation The flow of blood through the network of arteries and veins supplying the cerebrum, enabling the transport of nutrients to the tissues and the removal of waste products. tmpxe7fu0cj_hp_relaxed.owl cerebrum blood circulation|telencephelon blood circulation https://github.com/geneontology/go-ontology/issues/20107 krc 2020-10-20T19:13:51Z biological_process owl:Class N3e9ede5b91c54f00b086eb481dea9b7b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndb924e5b2cd84dd7b4273b818524e7ab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0032363 biolink:NamedThing Decreased circulating corticosterone level An abnormally reduced concentration of corticosterone in the blood. tmpxe7fu0cj_hp_relaxed.owl 2019-02-23 17:31:39+00:00 peter owl:Class N18c0676e7efe45d4933f94272fdcf723 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000104 biolink:NamedThing life cycle An entire span of an organism's life, commencing with the zygote stage and ending in the death of the organism. tmpxe7fu0cj_hp_relaxed.owl entire life cycle|entire lifespan|lifespan|life OGES:000011|ncithesaurus:Life|FBdv:00000000|HsapDv:0000001|MmusDv:0000001 uberon https://github.com/obophenotype/uberon/issues/532 owl:Class GO:0061311 biolink:NamedThing cell surface receptor signaling pathway involved in heart development Any series of molecular signals initiated by the binding of a receptor on the surface of a cell to a physiological ligand, which contributes to the progression of the heart over time. tmpxe7fu0cj_hp_relaxed.owl cell surface receptor linked signalling pathway involved in heart development|cell surface receptor linked signaling pathway involved in heart development dph 2010-09-23T09:18:32Z biological_process owl:Class N923f0cd7297f48f6b2053322e57f6909 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004476 biolink:NamedThing musculature of shoulder The collection of muscles that form attachments to the shoulder skeleton. tmpxe7fu0cj_hp_relaxed.owl set of muscles of shoulder|muscle group of shoulder FMA:50220 uberon owl:Class Na90852ff982e473491ae9645fa97e312 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndf7ed0c462b74c86891d5c0375c21684 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:3000016 biolink:NamedThing Abnormality of styloglossus muscle An abnormality of the styloglossus muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073225 vasilevs 2015-02-26T03:58:56Z human_phenotype owl:Class N4d60492c64bb45aa80fe6f8d5a4efaae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N808239797e1142c6af3d590ebd1d37a4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0140098 biolink:NamedThing catalytic activity, acting on RNA Catalytic activity that acts to modify RNA, driven by ATP hydrolysis. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/21612|https://github.com/geneontology/go-ontology/issues/14225 pg 2017-09-14T12:05:21Z molecular_function owl:Class Nfa3b074da85c4c91973b444ded59740b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8d093b1742c04dfaa27d56cff4eb04dc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0d0924fd11e94addaee04a84e34e4a68 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000490 biolink:NamedThing Deeply set eye An eye that is more deeply recessed into the plane of the face than is typical. tmpxe7fu0cj_hp_relaxed.owl Sunken eye|Sunken eyes|Deep-set eyes|Deeply set eye|Deep set eye|Enophthalmos|Ocular depression UMLS:C0423224|SNOMEDCT_US:80093006|MSH:D015841|SNOMEDCT_US:246923005|UMLS:C0014306 This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer. HP:0000663 human_phenotype owl:Class Ne28d0d1f16f4439cb85101bd0a127149 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8548da30a9ba4afea2fdd680f13efaac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6c9f3c42f96e4d80bdd259498639f9d6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035775 biolink:NamedThing submandibular region The region between the mandible and the hyoid bone that contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery. tmpxe7fu0cj_hp_relaxed.owl digastric triangle|submandibular triangle|submaxillary triangle|trigonum submandibulare FMA:57779 https://upload.wikimedia.org/wikipedia/commons/thumb/3/36/Musculi_coli_base%2C_my_edits_for_tringles%2C_labeled_triangles%2C_Submandib.svg/500px-Musculi_coli_base%2C_my_edits_for_tringles%2C_labeled_triangles%2C_Submandib.svg.png uberon owl:Class we place submandibular triangle from FMA here, although this may be a narrower region with more precise boundaries HP:0012456 biolink:NamedThing Medial arterial calcification Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022896 Medial arterial calcification causes stiffening and decreased compliance of the affected arteries. peter 2013-11-24T10:50:45Z owl:Class N016d6f8e549d46ae9e69357fe4944503 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005207 biolink:NamedThing Gastric hypertrophy Hypertrophy of the stomach. tmpxe7fu0cj_hp_relaxed.owl Increased stomach size UMLS:C1834341|UMLS:C4280502 human_phenotype owl:Class Nf0b1a4e252ae454ca0c3b30849cd067c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:27389 biolink:NamedThing 3-aminoisobutyric acid A beta-amino-acid that is isobutyric acid in which one of the methyl hydrogens is substituted by an amino group. tmpxe7fu0cj_hp_relaxed.owl 2-Methyl-beta-alanine|3-Aminoisobutanoic acid|beta-aminoisobutyric acid|3-aminoisobutyric acid|3-Amino-2-methylpropanoate|alpha-Methyl-beta-alanine|DL-beta-aminoisobutyric acid|2-(aminomethyl)propionic acid|BAIB|3-amino-2-methylpropanoic acid|3-Aminoisobutanoate|bAib 0 C4H9NO2 InChI=1S/C4H9NO2/c1-3(2-5)4(6)7/h3H,2,5H2,1H3,(H,6,7) QCHPKSFMDHPSNR-UHFFFAOYSA-N 103.11980 103.06333 CC(CN)C(O)=O CAS:144-90-1|PMID:19735301|Beilstein:1745458|Reaxys:1720958|CAS:10569-72-9|PMID:14576092|PMID:22735334|PMID:639325|PMID:2274753|Gmelin:1520758|MetaCyc:3-AMINO-ISOBUTYRATE|PMID:18600547|PMID:11785300|PMID:18299183|PMID:19186330|Wikipedia:3-Aminoisobutyric_acid|PMID:8307374|PMID:5776546|HMDB:HMDB0003911|Beilstein:1720958|LIPID_MAPS_instance:LMFA01100054|KEGG:C05145 CHEBI:19959|CHEBI:18712|CHEBI:359 chebi_ontology owl:Class Nd665d7e2df3e451abd4308ffa8973795 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nebfae043a01443b8a76a9954edb27965 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb2463fb9cb534fc6a3b55aed6a5ae91c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbffb060a46b144c6909bea7d13c1634b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:30848 biolink:NamedThing urate(1-) tmpxe7fu0cj_hp_relaxed.owl uric acid, ion(1-)|7,9-dihydro-1H-purine-2,6,8(3H)-trione, ion(1-)|uric acid monoanion -1 C5H3N4O3 167.10248 167.02051 CAS:3106-08-9 CHEBI:15290 chebi_ontology owl:Class CHEBI:35524 biolink:NamedThing sympathomimetic agent A drug that mimics the effects of stimulating postganglionic adrenergic sympathetic nerves. Included in this class are drugs that directly stimulate adrenergic receptors and drugs that act indirectly by provoking the release of adrenergic transmitters. tmpxe7fu0cj_hp_relaxed.owl sympathomimetics|sympathomimetic chebi_ontology owl:Class HP:0001256 biolink:NamedThing Intellectual disability, mild Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. tmpxe7fu0cj_hp_relaxed.owl Mental retardation, borderline-mild|Intellectual disability, mild|Mild mental retardation|Mental retardation, mild|Mild and nonprogressive mental retardation SNOMEDCT_US:86765009|UMLS:C0026106 HP:0006908|HP:0007119 human_phenotype owl:Class N00d6236622264e6aaab6b37525e6614e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nad46e9ef493f4c3e958c96ce5b3d8dad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3552150fb0c84eaf824eaeda369a62b5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021543 biolink:NamedThing pallium development The process whose specific outcome is the progression of the pallium over time, from its formation to the mature structure. The pallium is the roof region of the telencephalon. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0021537 biolink:NamedThing telencephalon development The process whose specific outcome is the progression of the telencephalon over time, from its formation to the mature structure. The telencephalon is the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived. tmpxe7fu0cj_hp_relaxed.owl cerebrum development biological_process owl:Class UBERON:0005018 biolink:NamedThing mucosa of nasal septum A mucosa that is part of a nasal septum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucous membrane of nasal septum|nasal septum organ mucosa|organ mucosa of nasal septum|nasal septum mucosa of organ|mucosa of organ of nasal septum|nasal septum mucosa|nasal septum mucous membrane FMA:60113|EMAPA:36028 uberon owl:Class Nfc1d496153aa49eea0fa2c2ae73a398c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N69927a5fd4ad45b589879400b1aa2fed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006306 biolink:NamedThing ulna cartilage element A cartilaginous condensation that has the potential to develop into a ulna. tmpxe7fu0cj_hp_relaxed.owl VHOG:0001155|EHDAA:7269|EHDAA2:0002098|EMAPA:18055 uberon owl:Class N21564585ea704d329bf8c9ba7606b2d7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001386 biolink:NamedThing Joint swelling tmpxe7fu0cj_hp_relaxed.owl Joint swelling SNOMEDCT_US:271771009|UMLS:C0152031 human_phenotype owl:Class N8613110cff204f1aafaa5e42e3ea78a4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne06d802a300e4a80a2365902011fcaa8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012024 biolink:NamedThing Hypergalactosemia Elevated concentration of galactose in the blood. tmpxe7fu0cj_hp_relaxed.owl Galactosemia MSH:D005693|SNOMEDCT_US:190745006|UMLS:C4023071|SNOMEDCT_US:190749000|UMLS:C0016952 Hypergalactosemia is used here to mean the increased concentration of galactose in the blood. Note that the word galactosemia is occasionally used with the same meaning but more commonly denotes the disease entity called galactosemia caused by mutations in the galactose-1-phosphate uridyltransferase gene (MIM:230400). peter 2012-07-26T10:35:58Z human_phenotype owl:Class N9803d626411e48f8be6c4f9337973361 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N32f9301773854d38906e23591e4c7969 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N68dc888900c44fd0be45359abd08434a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:23849 biolink:NamedThing diterpenoid Any terpenoid derived from a diterpene. The term includes compounds in which the C20 skeleton of the parent diterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups). tmpxe7fu0cj_hp_relaxed.owl diterpenoids|C20 isoprenoids|diterpenoides LIPID_MAPS_class:LMPR0104 chebi_ontology owl:Class UBERON:0006208 biolink:NamedThing auditory hillocks A collection of protruberances derived from pharyngeal arches 1 and 2 that develop into the folds of the pinna and gradually shift upwards and backwards to their final position on the head. tmpxe7fu0cj_hp_relaxed.owl hillock of Hiss|auditory hillock of Hiss|auricular hillock|auditory tubercles VHOG:0001364|NCIT:C34110|EHDAA2:0000155|EHDAA:4685|EMAPA:17280 uberon owl:Class GO:0010663 biolink:NamedThing positive regulation of striated muscle cell apoptotic process Any process that increases the rate or extent of striated muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a striated muscle cell and result in its death. tmpxe7fu0cj_hp_relaxed.owl positive regulation of striated muscle cell apoptosis biological_process owl:Class HP:0000601 biolink:NamedThing Hypotelorism Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). tmpxe7fu0cj_hp_relaxed.owl Closely spaced eyes|Decreased distance between eyes|Decreased distance between eye sockets|Abnormally close eyes|Ocular hypotelorism|Decreased orbital separation|Decreased interpupillary distance SNOMEDCT_US:44593008|UMLS:C0424711 HP:0007877 human_phenotype owl:Class Ne44785ae538d4076808ffec7163a55d0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:36233 biolink:NamedThing disaccharide A compound in which two monosaccharides are joined by a glycosidic bond. tmpxe7fu0cj_hp_relaxed.owl disacaridos|Disaccharide|disacarido|Disacharid|disaccharides|Disaccharid KEGG:C01911 CHEBI:4654|CHEBI:23844 chebi_ontology owl:Class N8d2e600bb6af47dca5b72712ac1eecd4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003530 biolink:NamedThing Elevated circulating glutaric acid concentration An increased concentration of glutaric acid in the blood. tmpxe7fu0cj_hp_relaxed.owl Glutaric acidemia|Glutarate acidemia UMLS:C4025603 owl:Class Nbc3509c44f664ef0af78e38260266245 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013235 biolink:NamedThing ventrum A major organism subdivisionthat is the entire part of an anatomical structure ventral to a horizontal plane and bounded on one side by the same horizontal plane. tmpxe7fu0cj_hp_relaxed.owl ventral region of organism|front|ventral part of organism|front of body proper|ventral region FMA:259204 uberon owl:Class ventral Ncc27386498cc41ba808e389dc5eb7be0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011808 biolink:NamedThing Decreased patellar reflex Decreased intensity of the patellar reflex (also known as the knee jerk reflex). tmpxe7fu0cj_hp_relaxed.owl Decreased patellar reflexes|Decreased knee jerk reflex UMLS:C3277184 peter 2012-04-27T08:38:22Z human_phenotype owl:Class N7a71cdd8c1444214b21dd3570d1ba63b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010747 biolink:NamedThing body of ilium The body of ilium enters into the formation of the acetabulum, of which it forms rather less than two-fifths. Its external surface is partly articular, partly non-articular; the articular segment forms part of the lunate surface of the acetabulum, the non-articular portion contributes to the acetabular fossa. The internal surface of the body is part of the wall of the lesser pelvis and gives origin to some fibers of the Obturator internus. Below, it is continuous with the pelvic surfaces of the ischium and pubis, only a faint line indicating the place of union. tmpxe7fu0cj_hp_relaxed.owl corpus ossis ilii|ilium body FMA:42825 uberon owl:Class N5742a36279544e2bae6e62fb7130cd62 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0032060 biolink:NamedThing bleb assembly The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. tmpxe7fu0cj_hp_relaxed.owl blebbing|membrane blebbing|plasma membrane bleb assembly|plasma membrane blebbing|cell blebbing biological_process owl:Class UBERON:0005997 biolink:NamedThing tricuspid valve anulus The fibrous ring of the tricuspid valve that attaches the cusps of tricuspid valve to the heart, and which consists of portions of the fibrous scallops of the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp). tmpxe7fu0cj_hp_relaxed.owl tricuspid valvar anulus|anulus of tricuspid valve|fibrous ring of tricuspid valve|tricuspid anulus EMAPA:37421|FMA:9500 uberon owl:Class Nee165f4dfcfc4a618a70016814f6614b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0410cf1211b6414e8d24e505a9bc77c1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6474b99b8f1a4044bd55c3dc763145aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1c125105ea6b461ab12d3e28c9eab331 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N773e23c9c77349188a017fe80be130e5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004833 biolink:NamedThing lip skeletal muscle A portion of skeletal muscle tissue that is part of a lip [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lip skeletal muscle tissue|skeletal muscle of lip|skeletal muscle tissue of lip MA:0001578|EMAPA:37642 this class is derived from MA. Consider re-modeling this as being a muscle that acts on the lips. See: Wikipedia:Lip#Muscles_acting_on_the_lips uberon owl:Class HP:0001791 biolink:NamedThing Fetal ascites Accumulation of fluid in the peritoneal cavity during the fetal period. tmpxe7fu0cj_hp_relaxed.owl Foetal ascites SNOMEDCT_US:363125002|UMLS:C1285291 owl:Class Ncc1374490f8a4dcb982f069e87f4a1d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004631 biolink:NamedThing thoracic vertebra 6 The sixth thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl T6 vertebra|sixth dorsal vertebra|sixth thoracic vertebra EMAPA:19547|MA:0001443|FMA:9945|NCIT:C33728|UMLS:C0459949 elements are to be defined spatially/topologically uberon owl:Class UBERON:0001483 biolink:NamedThing skin of shoulder A zone of skin that is part of a shoulder region. tmpxe7fu0cj_hp_relaxed.owl shoulder skin|shoulder zone of skin|zone of skin of shoulder FMA:34830|MA:0000635|EMAPA:18059 uberon owl:Class in MA this is a subclass of forelimb skin, but this violates part-disjointness in Uberon N4ca8bb07b655451dba2d1f9e8ae8f6e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001495 biolink:NamedThing Carpal osteolysis Osteolysis affecting carpal bones. tmpxe7fu0cj_hp_relaxed.owl Carpal bone osteolysis UMLS:C1833734 human_phenotype owl:Class Ne4c4241aa6cc408daac038b5cbd2ab7a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb57677baf13347aba224d52feabdfa9d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndde297ac9b104973aea702541fa42441 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003997 biolink:NamedThing Hypoplastic radial head tmpxe7fu0cj_hp_relaxed.owl Small radial head UMLS:C4021695 human_phenotype owl:Class N98c7b43e1775440cbe6d321c0ec99443 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4a59f013bade4f1a9e103430579cf7aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008588 biolink:NamedThing procerus The Procerus is a small pyramidal slip of muscle deep to the superior orbital nerve, artery and vein. tmpxe7fu0cj_hp_relaxed.owl depressor glabellae|pyramidalis nasi|procerus muscle|musculus procerus glabellae FMA:46769 http://upload.wikimedia.org/wikipedia/commons/7/76/Procerus.png uberon owl:Class HP:0010684 biolink:NamedThing Low alkaline phosphatase of bone origin An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood. tmpxe7fu0cj_hp_relaxed.owl Low ALP of bone origin UMLS:C4023741 doelkens 2010-03-05T11:12:47Z human_phenotype owl:Class N8413636872774e118b5bf8b8e3d9272a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N632255ba84b44da3ab2499344ff6b325 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd224f695b1d94d2fbadc0d634bfb8fba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0cf595a983834fb89e61e61b66c22369 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8b5e970550034fb1a56a200c3a46dd6c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003954 biolink:NamedThing Angulated forearm bones tmpxe7fu0cj_hp_relaxed.owl Angulated forearm bones UMLS:C4025483 human_phenotype owl:Class N89c82044094c47e6b04f14aca7adc7af biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0090327 biolink:NamedThing negative regulation of locomotion involved in locomotory behavior tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0031987 biolink:NamedThing locomotion involved in locomotory behavior tmpxe7fu0cj_hp_relaxed.owl owl:Class Nd524dfba5bc848df9960d1609c2c712a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N221308673d38406eaef780701c8020de biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N32b36b51959343b09be55333c13ab1b9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0014050 biolink:NamedThing negative regulation of glutamate secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of glutamate. tmpxe7fu0cj_hp_relaxed.owl inhibition of glutamate secretion|downregulation of glutamate secretion|down regulation of glutamate secretion|down-regulation of glutamate secretion biological_process owl:Class Nc8c8745774af4e229acbaf6944ca06f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100137 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the outermost bone of the 3rd toe UMLS:C4022284 doelkens 2010-06-24T10:23:44Z human_phenotype owl:Class N820b39b991f3428284649f2b056ded08 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0031807 biolink:NamedThing Increased basophil count An abnormally increased count of basophils per volume in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Basophilia 2018-04-04 01:15:24+00:00 peter owl:Class Nbabd4c11693f4a2ea2623064d67b054c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0099188 biolink:NamedThing postsynaptic cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising cytoskeletal filaments and their associated proteins in the postsynaptic cytoskeleton. tmpxe7fu0cj_hp_relaxed.owl dos 2017-12-20T15:06:57Z biological_process owl:Class N8e459186462b47e5b277dc2130a28ed5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N40e39f1cb59f428dae8ff4f41cb6772c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0ecb1d189fc24537921ba89a3f2887ef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9e46f05ba14a4c01b0eb401699e5f4f6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5f3fe0ba3408432ab9303822db36e897 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N239fdbb20b0b469a8077f074a060b450 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:84981 biolink:NamedThing 2-aminoadipate(2-) A dicarboxylic acid dianion that is the conjugate base of 2-aminoadipic acid. tmpxe7fu0cj_hp_relaxed.owl alpha-aminoadipate|2-aminohexanedioate -2 C6H9NO4 InChI=1S/C6H11NO4/c7-4(6(10)11)2-1-3-5(8)9/h4H,1-3,7H2,(H,8,9)(H,10,11)/p-2 OYIFNHCXNCRBQI-UHFFFAOYSA-L 159.14110 159.05425 NC(CCCC([O-])=O)C([O-])=O chebi_ontology owl:Class N45c54b64b78943d8a6b85a1073fcece3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N998538f5c1b14df782cecf4cf0de6604 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060363 biolink:NamedThing cranial suture morphogenesis The process in which any suture between cranial bones is generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0004253 biolink:NamedThing Absent trapezium tmpxe7fu0cj_hp_relaxed.owl Absent trapezium bone UMLS:C1847190 human_phenotype owl:Class N9912a2c7354a4281bea081643df78519 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100122 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the innermost bone of the 2nd toe UMLS:C4022299 doelkens 2010-06-24T10:06:29Z human_phenotype owl:Class Nd397ce0748d94a37a3951c155fbdf211 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060981 biolink:NamedThing cell migration involved in coronary angiogenesis The orderly movement of a cell from one site to another that will contribute to the formation of new blood vessels in the heart from pre-existing blood vessels. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-06T02:49:12Z biological_process owl:Class Ncd1c175d0345462faee5932aac86297c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007005 biolink:NamedThing cardiogenic splanchnic mesoderm The splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium[web]. Two migratory heart primordia that move ventrally during the course of neurulation, and then fuse[XAO]. tmpxe7fu0cj_hp_relaxed.owl cardiogenic mesoderm|cardiogenic splanchnopleure|heart primordia|cardiac mesoderm|cardiogenic region VHOG:0001641|FMA:293143|EFO:0000315|EHDAA:385|EHDAA2:0000214|AAO:0011021|XAO:0000235|BILA:0000051|SCTID:360387000 consider FBbt:00005541 ! cardiogenic mesoderm|review EHDAA2 placement uberon owl:Class UBERON:0014543 biolink:NamedThing lumbar division of spinal cord central canal Part of central canal lying within the lumbar spinal cord. It is continuous rostrally with the central canal of the thoracic spinal cord and caudally with the central canal of the sacral spinal cord. tmpxe7fu0cj_hp_relaxed.owl lumbar spinal cord central canal FMA:321589|UMLS:C0228644|BIRNLEX:1604 uberon owl:Class HP:0008440 biolink:NamedThing C1-C2 vertebral abnormality Any abnormality of the atlas and the axis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024675 The atlas is the first cervical vertebral body and the axis is the second vertebral body. human_phenotype owl:Class Na0765c1b0bc849e2a2d9a8eea4040966 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne06dd8a80a484c758ed294f065af9c70 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001562 biolink:NamedThing decreased mass A mass which is lower than normal or average. tmpxe7fu0cj_hp_relaxed.owl low mass|small mass PATO:0000579 quality owl:Class GO:0035931 biolink:NamedThing mineralocorticoid secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0009910 biolink:NamedThing Aplasia of the middle ear ossicles Absence of the middle ear ossicles, malleus, incus, and stapes. tmpxe7fu0cj_hp_relaxed.owl Absent middle ear ossicles|Absent middle ear bones UMLS:C4021374 peter 2009-05-01T03:26:53Z human_phenotype owl:Class N06b1d15b1934496e8eac65e28551eb2c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007886 biolink:NamedThing Absent extraocular muscles Congenital absence of the extraocular muscles. tmpxe7fu0cj_hp_relaxed.owl Absent ocular muscles|Missing eye muscles UMLS:C1408781|UMLS:C4024777 owl:Class Ned8ff3a871f240f4ac4b83277cd7c884 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfb25d77dc0b04c39b2b08cf4e8f3564d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N913a5d91ea1f430a87e4776c04929734 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N526e5275dac14709b6bb76eac8d6e449 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncbda4eabfce0488ba7337c76411379b4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000071 biolink:NamedThing death stage End of the life of an organism. tmpxe7fu0cj_hp_relaxed.owl death XtroDO:0000085|XAO:0000437 uberon owl:Class ncit:Death is an outcome CL:0002435 biolink:NamedThing CD69-positive, CD8-positive single-positive thymocyte A CD8-positive, CD4-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive. tmpxe7fu0cj_hp_relaxed.owl intermediate CD8-single-positive|T.8SP69+.Th tmeehan 2010-10-21T02:59:14Z cell owl:Class HP:0009676 biolink:NamedThing Bracket epiphysis of the distal phalanx of the thumb An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of thumb outermost long bone UMLS:C4024241 doelkens 2009-01-30T09:18:09Z human_phenotype owl:Class Na84dba54348947778288571cc28770f2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd3dbd68903d24416b3bbb63be9acd137 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003057 biolink:NamedThing chordal neural plate The portion of neural plate posterior to the mid-hindbrain junction. tmpxe7fu0cj_hp_relaxed.owl posterior neural plate XAO:0000046|TAO:0007017|ZFA:0007017|VHOG:0001201 uberon owl:Class (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...).[well established][VHOG] UBERON:0005003 biolink:NamedThing mucosa of left hepatic duct A mucosa that is part of a left hepatic duct [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl left hepatic duct mucosa|left hepatic duct organ mucosa|left hepatic duct mucous membrane|organ mucosa of left hepatic duct|mucous membrane of left hepatic duct|mucosa of organ of left hepatic duct|left hepatic ductal mucosa|left hepatic duct mucosa of organ FMA:14693 uberon owl:Class N4fc336883c7e4d7f82c1c386533f03d9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1904659 biolink:NamedThing glucose transmembrane transport The process in which glucose is transported across a membrane. tmpxe7fu0cj_hp_relaxed.owl glucose transport vw 2015-09-04T17:20:16Z GO:0015758 biological_process owl:Class Ne1a4ece9eac54c23ab1e627c23745699 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001810 biolink:NamedThing Dystrophic toenail Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. tmpxe7fu0cj_hp_relaxed.owl Dystrophic toenails|Dystrophic toenail changes|Poor toenail formation UMLS:C1833225 HP:0007558 human_phenotype owl:Class Nae77688076cf44e2bc907492bd562a62 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0043031 biolink:NamedThing negative regulation of macrophage activation Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage activation. tmpxe7fu0cj_hp_relaxed.owl inhibition of macrophage activation|down-regulation of macrophage activation|downregulation of macrophage activation|negative regulation of macrophage polarization|down regulation of macrophage activation biological_process owl:Class N5865c25eca284a6ba1eefc836c1bc2c3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011396 biolink:NamedThing Abnormality of the cochlear nerve tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023377 hecht 2012-03-09T05:39:04Z human_phenotype owl:Class N3a9ae826a0b9428f8874aff328ebd87d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005789 biolink:NamedThing Generalized osteosclerosis An abnormal increase of bone mineral density with generalized involvement of the skeleton. tmpxe7fu0cj_hp_relaxed.owl Diffuse, symmetrical osteosclerosis|Osteosclerosis, diffuse symmetrical|Increased bone density in skeletal bones|Generalised osteosclerosis UMLS:C4280476|UMLS:C1843331 HP:0005805 human_phenotype owl:Class N2bcbe14d328243f2ac00799dc4e7d6a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:78804 biolink:NamedThing Caenorhabditis elegans metabolite A nematode metabolite produced by Caenorhabditis elegans. tmpxe7fu0cj_hp_relaxed.owl Caenorhabditis elegans metabolites|C. elegans metabolite|C. elegans metabolites chebi_ontology owl:Class N8be9162d243e46a685ff81b11459054c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011757 biolink:NamedThing differentiated genital tubercle tmpxe7fu0cj_hp_relaxed.owl phallus|phallus primordialis|primordial phallus NCIT:C34274|UMLS:C1514448 uberon owl:Class GO:0060900 biolink:NamedThing embryonic camera-type eye formation The developmental process pertaining to the initial formation of a camera-type eye from unspecified neurectoderm. This process begins with the differentiation of cells that form the optic field and ends when the optic cup has attained its shape. tmpxe7fu0cj_hp_relaxed.owl dph 2009-08-13T02:26:54Z biological_process owl:Class Nfb26b030aae94bdbbda9cae4b4f2adc9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001641 biolink:NamedThing transverse sinus One of the dural venous sinuses and drains the superior sagittal sinus the occipital sinus and the straight sinus, and empties into the sigmoid sinus which in turn reaches the jugular bulb. tmpxe7fu0cj_hp_relaxed.owl groove for right and left transverse sinuses|sinus transversus|lateral sinus|sinus transversus durae matris|transverse sinus vein|transverse sinus EMAPA:18637|MA:0001868|FMA:50763|OpenCyc:Mx4rwDb62ZwpEbGdrcN5Y29ycA|ncithesaurus:Transverse_Sinus Gray488:blue.gif TODO - check subclasses uberon owl:Class N49affe0458ef41648ca603c1d5f70777 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:15891 biolink:NamedThing taurine An amino sulfonic acid that is the 2-amino derivative of ethanesulfonic acid. It is a naturally occurring amino acid derived from methionine and cysteine metabolism. An abundant component of fish- and meat-based foods, it has been used as an oral supplement in the treatment of disorders such as cystic fibrosis and hypertension. tmpxe7fu0cj_hp_relaxed.owl 2-aminoethanesulfonic acid|beta-aminoethylsulfonic acid|Taurine|2-Aminoethanesulfonic acid|2-aminoethyl sulfonate|Aminoethylsulfonic acid 0 C2H7NO3S InChI=1S/C2H7NO3S/c3-1-2-7(4,5)6/h1-3H2,(H,4,5,6) XOAAWQZATWQOTB-UHFFFAOYSA-N 125.148 125.01466 C(CS(O)(=O)=O)N PMID:11162030|PMID:7588651|PMID:10098958|PMID:3106924|Wikipedia:Taurine|PMID:2122710|PMID:17053427|PMID:14992292|PMID:11931837|HMDB:HMDB0000251|PMID:27345710|PMID:12834252|CAS:107-35-7|PMID:18060526|PMID:3393260|PMID:19212411|PMID:2494044|PMID:16169526|PMID:24027187|PMID:2370482|PMID:19940987|PMID:15780050|PMID:8818047|Beilstein:1751215|PMID:17875433|KEGG:C00245|PMID:15911239|PMID:16923232|PMID:10325611|PMID:27380030|PMID:9635063|PMID:11842876|PMID:8692051|PMID:27291853|PMID:15503229|PDBeChem:TAU|PMID:22770225|PMID:18171928|PMID:10349454|KNApSAcK:C00048188|PMID:12297216|PMID:17997039|KEGG:D00047|PMID:19309105|PMID:27471162|Reaxys:1751215|PMID:17081118|PMID:27412799|PMID:12499349|Drug_Central:4486|PMID:19074966|PMID:27535560|MetaCyc:TAURINE|PMID:16444816|PMID:21761941|DrugBank:DB01956|PMID:27334436|Gmelin:82121|PMID:10827156|PMID:11918831|PMID:6198473 CHEBI:9406|CHEBI:26852|CHEBI:15195|CHEBI:45877 chebi_ontology owl:Class Ne762c0dce8f449f59b3452f20cfed6cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc0c62dd09c074679ad909913696353fa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HGNC:1516 biolink:NamedThing CAT (human) A protein coding gene CAT in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class N070a5022ea27472d98623baefa21c817 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100146 biolink:NamedThing Absent epiphysis of the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the middle bone of the 3rd toe UMLS:C4022275 doelkens 2010-06-24T10:24:13Z human_phenotype owl:Class Nac91475afba34176b8444c9cb58ca08c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N080a1092d4564753b275bc6f32a7e416 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001499 biolink:NamedThing spherical A spheroid quality inhering in a bearer by virtue of the bearer's resembling a ball (a sphere whose equatorial diameter is equal to the polar diameter). tmpxe7fu0cj_hp_relaxed.owl rotund|globular PATO:0000408 quality owl:Class UBERON:0011349 biolink:NamedThing pterygomandibular raphe The pterygomandibular raphe (pterygomandibular ligament) is a tendinous band of the buccopharyngeal fascia, attached by one extremity to the hamulus of the medial pterygoid plate, and by the other to the posterior end of the mylohyoid line of the mandible. Its medial surface is covered by the mucous membrane of the mouth. Its lateral surface is separated from the ramus of the mandible by a quantity of adipose tissue. Its posterior border gives attachment to the superior pharyngeal constrictor muscle. Its anterior border attaches to the posterior edge of the buccinator. tmpxe7fu0cj_hp_relaxed.owl pterygomandibular raph%c3%a9|pterygomandibular ligament FMA:55618 uberon owl:Class isa anatomical line in FMA Nf7089440657546008f48ece019fbab5b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060348 biolink:NamedThing bone development The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N573011acda2d4baca55506184f7403d2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0043084 biolink:NamedThing penile erection The hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Erection#Penile_erection biological_process owl:Class GO:2000213 biolink:NamedThing positive regulation of glutamate metabolic process Any process that activates or increases the frequency, rate or extent of glutamate metabolic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of glutamic acid metabolic process|positive regulation of glutamic acid metabolism|positive regulation of glutamate metabolism mah 2010-11-03T02:43:59Z biological_process owl:Class GO:0060323 biolink:NamedThing head morphogenesis The process in which the anatomical structures of the head are generated and organized. The head is the anterior-most division of the body. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0010171 biolink:NamedThing body morphogenesis The process in which the anatomical structures of the soma are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N01f892f366254420ba97ffb88142fa77 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002153 biolink:NamedThing Hyperkalemia An abnormally increased potassium concentration in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated serum potassium levels SNOMEDCT_US:14140009|SNOMEDCT_US:238142003|SNOMEDCT_US:166689004|UMLS:C0020461|MSH:D006947 human_phenotype owl:Class N5de7793b7f5040079ffb2dbc805cce0c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004558 biolink:NamedThing Cervical platyspondyly A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine. tmpxe7fu0cj_hp_relaxed.owl Flattened cervical vertebral bodies UMLS:C1856641 HP:0005641 human_phenotype owl:Class N8a3f0f3b34f74eb5a8324a6292462d7e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N32c1bbb856ab4dea857e37858f867528 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0017649 biolink:NamedThing dorsal body wall The dorsal part of the body wall. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0006285 biolink:NamedThing Enamel hypomineralization A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect. tmpxe7fu0cj_hp_relaxed.owl Increased porosity of tooth enamel|White spot lesions of tooth enamel|Poorly mineralized tooth enamel|Hypomineralization of enamel|Decreased enamel mineralisation|Mottled tooth enamel|Fluorosis of tooth enamel SNOMEDCT_US:109487003|UMLS:C4280461|UMLS:C4280253|UMLS:C3665628|UMLS:C4280460 Enamel hypomineralization can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. It may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. Enamel hypomineralization is a qualitative defect of enamel, in which the enamel can be rough and softer. Affected teeth may be sensitive. Enamel hypomineralization can be part of molar incisor hypomineralization (hypomineralisation of systemic origin of one to four permanent first molars, frequently associated with affected incisors) and of hypomineralized second primary molars (or deciduous molar hypomineralisation, which indicates idiopathic hypomineralization of one to four second deciduous molars). HP:0006359 owl:Class N66a7378c5c284f80b57b9546f0ada586 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000053 biolink:NamedThing macula lutea An oval area in the retina, usually located temporal to the posterior pole of the eye and slightly below the level of the optic disk. It is characterized by the presence of a yellow pigment diffusely permeating the inner layers, contains the fovea centralis in its center, and provides the best phototopic visual acuity. It is devoid of retinal blood vessels, except in its periphery, and receives nourishment from the choriocapillaris of the choroid. (From Cline et al., Dictionary of Visual Science, 4th ed). tmpxe7fu0cj_hp_relaxed.owl maculae|macula retinae|macula|macula flava retinae FMA:58637|MESH:D008266|EMAPA:36516|GAID:909|UMLS:C1284755|UMLS:C0450295|NCIT:C26464|BIRNLEX:2540|EV:0100349|NCIT:C33044|BTO:0003015|MA:0001306 http://upload.wikimedia.org/wikipedia/commons/e/ed/Human_eye_cross-sectional_view_grayscale.png uberon owl:Class UBERON:0007490 biolink:NamedThing keratin-based acellular structure Acellular anatomical structure whose predominant constituent is keratin. tmpxe7fu0cj_hp_relaxed.owl keratin-based structure AEO:0000099|EHDAA2:0003099 should all structures composed primarily of keratin be classified here? At what stage of cornification are keratin-filled cells no longer considered cells EHDAA2:0003099 uberon owl:Class PATO:0002507 biolink:NamedThing keratinous tmpxe7fu0cj_hp_relaxed.owl owl:Class Ncba1943530dc4d2284167d2afc074c79 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N807da5145a204843bb359296f18354bd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007341 biolink:NamedThing Diffuse swelling of cerebral white matter tmpxe7fu0cj_hp_relaxed.owl UMLS:C1858855 owl:Class N39e90521ff9949a089f5a1b023edebb2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100891 biolink:NamedThing Bifid xiphoid process A cleft of the xiphoid process of the sternum. tmpxe7fu0cj_hp_relaxed.owl Bifid xiphisternum UMLS:C4020943 doelkens 2011-12-01T05:07:17Z human_phenotype owl:Class Nb39bf6a373244c41922e78e8fd4de916 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0014855 biolink:NamedThing striated muscle cell proliferation The multiplication or reproduction of striated muscle cells, resulting in the expansion of a cell population. Striated muscles contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Nb1239a91af3c4702b0f992a12af3942e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb0c7b3626c0743d08f6ea24623df8c2e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0011007 biolink:NamedThing paraxial cell A cell in the area of mesoderm in the neurulating embryo that flanks and forms simultaneously with the neural tube. The cells of this region give rise to somites. tmpxe7fu0cj_hp_relaxed.owl paraxial mesoderm cell|somitic mesoderm cell|presomitic mesoderm cell owl:Class CL:2000080 biolink:NamedThing mesenchymal stem cell of abdominal adipose tissue Any mesenchymal stem cell of adipose tissue that is part of an abdomen. tmpxe7fu0cj_hp_relaxed.owl mesenchymal stem cell of abdominal adipose TermGenie 2014-12-02T19:10:34Z cell owl:Class N1b7d06a1e9234b97b02ec81368461933 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0002572 biolink:NamedThing pro-T cell differentiation The process in which a precursor cell type acquires the specialized features of a pro-T cell. Pro-T cells are the earliest stage of the T cell lineage but are not fully committed. tmpxe7fu0cj_hp_relaxed.owl pro-T lymphocyte differentiation biological_process owl:Class UBERON:8410032 biolink:NamedThing trabecular sinus of lymph node The trabecular sinus is the lymph-filled space outside the trabeculae between lobules of the lymph node. This is a continuation of the subcapsular sinus which receives the afferent vessels and is present beneath the capsule. This space is traversed by both reticular fibers and cells in the lymph. tmpxe7fu0cj_hp_relaxed.owl lymph node trabecular sinus http://orcid.org/0000-0002-2825-0621 uberon owl:Class UBERON:0030276 biolink:NamedThing lumbar spinal cord ventral horn tmpxe7fu0cj_hp_relaxed.owl lumbar spinal cord anterior horn|lumbar spinal cord ventral horn BIRNLEX:891 uberon owl:Class N30fe5cea5c414e898df069f1d45fd9ed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd0991a3f93e44440bf3f2ab67b98e42a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013148 biolink:NamedThing early midbrain vesicle tmpxe7fu0cj_hp_relaxed.owl midbrain vesicle EHDAA2:0001103 develops into cerebral aqueduct uberon owl:Class HP:0032622 biolink:NamedThing Tubular luminal dilatation Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. tmpxe7fu0cj_hp_relaxed.owl Tubular ectasia By definition, ,tubular luminal dilatation excludes simplifcation, which is defined as a tubular cross-section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush borderinvolving over 50 percent of the tubular cells in cross-section, resulting in an apparent increase in the size of lumen, without presence of casts. peter owl:Class Nb44bfb10c40d40b9adf83fa95dcc3f1c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naa60dff522ea41649e4bd4071bb75204 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N36527873b6d0459fa2d1d38d6d35e4e6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N32c53cc665ec474abb4e29d214e574b0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N96e59650f5b94b84937509eeaf50092a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb20680f6964946bfb2dc26a432751c7f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001533 biolink:NamedThing subclavian artery One of two laterally paired arteries that supplies the pectoral appendages, usually branching from the dorsal aorta. tmpxe7fu0cj_hp_relaxed.owl arteria subclavia|pectoral artery|PA|subclavian arterial tree|arterial tree of upper limb GAID:511|UMLS:C0038530|AAO:0010232|EMAPA:17617|FMA:3951|EHDAA2:0001933|ZFA:0005086|EHDAA:4357|MESH:D013348|XAO:0000365|NCIT:C33643|OpenCyc:Mx4rvp8u1JwpEbGdrcN5Y29ycA|MA:0002045|TAO:0005086 http://upload.wikimedia.org/wikipedia/commons/e/e6/Gray506.svg Developmental relationships should be added (intersegmental artery and right dorsal aorta in EHDAA2, occipitovertebral artery in XAO) uberon owl:Class Artery which supplies blood via branches to the various muscles of the shoulder region and to the forelimb.[AAO]|The pectoral (subclavian) arteries originate from the dorsal aorta and takes the blood outward into the fin from the paired portion of the dorsal aorta posterior to the last aortic arch. Kimmel et al. 1993[TAO]|In human anatomy, the subclavian artery is a major artery of the upper thorax that mainly supplies blood to the head and arms. It is located below the clavicle, hence the name. There is a left subclavian and a right subclavian. On the left side of the body, the subclavian comes directly off the arch of aorta. On the right side of the body, the subclavian arises from the relatively short brachiocephalic artery (trunk) when it bifurcates into the subclavian and the right common carotid artery. The usual branches of the subclavian on both sides of the body are the vertebral artery, the internal thoracic artery, the thyrocervical trunk, the costocervical trunk and the dorsal scapular artery. The subclavian becomes the axillary artery at the lateral border of the first rib[WP] UBERON:0010688 biolink:NamedThing skeleton of manual acropodium The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the manual autopodium - i.e. the bones of the hands or their cartilaginous precursors[VSAO,modified]. tmpxe7fu0cj_hp_relaxed.owl set of phalanges of hand|phalanges of hand|anterior acropodium skeleton|all phalanges in forelimb autopod|manual digit skeleton|hand digit skeleton|set of manual phalanges|phalanges of manus|set of phalanges of manus|fore acropodium skeleton|anterior acropodium|manual phalanges FMA:71337|VSAO:0005029 uberon owl:Class N61171db058d64256a4a591557abdd4be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N72ed0f4dfbb44729bb4acafb62949a65 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021903 biolink:NamedThing rostrocaudal neural tube patterning The process in which the neural tube is divided into specific regions along the rostrocaudal axis. tmpxe7fu0cj_hp_relaxed.owl anterior-posterior neural tube patterning biological_process owl:Class UBERON:0003390 biolink:NamedThing mesothelium of pleural cavity A mesothelium that is part of a pleural cavity [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl meso-epithelium of pleural cavity|pleura|pleural cavity meso-epithelium|mesothelium of pleura|pleural mesothelium|pleural cavity mesothelium FMA:18148|BTO:0003155|EMAPA:16775|EHDAA2:0001476 uberon owl:Class HP:0011482 biolink:NamedThing Abnormal lacrimal gland morphology Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the lacrimal gland UMLS:C4023336 peter 2012-04-01T09:35:54Z human_phenotype owl:Class N09c397c313b649c39d14f1e6bca4802f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0006998 biolink:NamedThing nuclear envelope organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear envelope. tmpxe7fu0cj_hp_relaxed.owl nuclear envelope organisation|nuclear envelope organization and biogenesis biological_process owl:Class N4f7ff6d6e47f4f52a7f1993e6eb2b67c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nade25a475d1b4d739f502add2bec3dd1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5f466996ab694438aa90645615665560 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009133 biolink:NamedThing pleuroperitoneal membrane A fold of tissue which extends into the peritoneal cavity of the developing embryo and participates in the separation of the pleural and peritoneal cavities. tmpxe7fu0cj_hp_relaxed.owl pleuroperitoneal membranes|pleuroperitoneal fold EMAPA:17709|EHDAA2:0001483|Wikipedia:Pleuroperitoneal|UMLS:C1283968|NCIT:C34256|SCTID:361429005|VHOG:0000757 UBERON:0009146 uberon owl:Class In hagfishes a transverse septum extends upward from the ventral body wall posterior to the heart, partly separating an anterior pericardial cavity from a larger peritoneal cavity. (...) These basic relationships have not been modified by urodeles. The small pericardial cavity remains far forward where it is separated by a transverse septum from the principal coelom, which may now be called a pleuroperitoneal cavity because slender lungs are present. (...) The heart [of other tetrapods] is separated from the lungs (and liver if present) by more or less horizontal partitions that have their origin in the embryo as folds on the serous membrane of the right and left lateral body walls. These grow out to join in the midline of the body. They are called lateral mesocardia (birds) or pleuropericardial membranes. Posteriorly they join the transverse septum to form the adult pericardial membrane, or pericardium. (...) In their partitioning of their coelom, embryonic mammals resemble first early fishes (incomplete partition, posterior to heart, consisting of the transverse septum) and then reptiles (pericardium derived from transverse septum and pleuropericardial membranes). Mammals then separate paired pleural cavities from the peritoneal cavity by a diaphragm. The ventral portion of this organ comes from the transverse septum. The dorsal portion is derived from the dorsal mesentery and from still another pair of outgrowths from the lateral body wall, the pleuroperitoneal membranes.[well established][VHOG] CHEBI:60059 biolink:NamedThing dermatan anion A carbohydrate acid derivative anion obtained from dermatan by deprotonation of the carboxylic acid groups of the repeating units; the major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl dermatan|dermatan polyanion H2O(C14H20NO11)n CHEBI:58701 chebi_ontology owl:Class GO:0048340 biolink:NamedThing paraxial mesoderm morphogenesis The process in which the anatomical structures of the paraxial mesoderm are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009930 biolink:NamedThing Asymmetry of the nares Asymmetry or size difference between the left and right nostril. tmpxe7fu0cj_hp_relaxed.owl Uneven nostril size|Unequal nostril shape|Asymmetry of nostrils|Unequal nostril size|Crooked nostrils|Uneven nostril shape UMLS:C4024157 peter 2009-05-05T07:06:20Z human_phenotype owl:Class Ne989264cea8c42a8811062762a3124db biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne62f30e169fa4d2f9fa02ab659f8e58a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N92b6641fec584701a1c69d9c19733547 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0cafb26a7fc64d79ac6bca096980f8e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012112 biolink:NamedThing Abnormal circulating corticosterone level An abnormality of the concentration of corticosterone in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormality of circulating corticosterone level UMLS:C4023037 hecht 2012-09-16T04:23:55Z human_phenotype owl:Class Nab7d8b2d29fe4ef78ded685481d8c7aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005263 biolink:NamedThing Gastritis The presence of inflammation of the gastric mucous membrane. tmpxe7fu0cj_hp_relaxed.owl Stomach inflammation MEDDRA:10017853|UMLS:C0017152|SNOMEDCT_US:4556007|MSH:D005756 peter 2008-03-26T04:32:00Z human_phenotype owl:Class Naff293a7de314b5db73e8d7f920f757b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410289 biolink:NamedThing Hypoamylasemia Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. tmpxe7fu0cj_hp_relaxed.owl Decreased circulating amylase level 2019-01-28 20:07:56+00:00 owl:Class N7d9b15c958ad45a4b5a9f7a3c008c558 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb8cc69191b074d8d90ce38b47de00350 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N22de72096bc042178f58bb1a8b0b4ffb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100194 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the innermost bone of the 4th toe UMLS:C4022227 doelkens 2010-06-24T04:54:59Z human_phenotype owl:Class Nf99d3c1d89e3465a9c503f18c09d33d4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7cc7691e87ec4081b8149bc876ca71f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na99870729e4649f0a1425f291b9aaee1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009722 biolink:NamedThing entire pharyngeal arch endoderm tmpxe7fu0cj_hp_relaxed.owl pharyngeal arch endoderm EMAPA:32754|FMA:293087|EHDAA2:0004621 uberon owl:Class N83fcc068c3ad40f8ac2f09c7a630d673 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne37b5a6cfd2a422e8afbe8a835c89d4f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1905065 biolink:NamedThing positive regulation of vascular associated smooth muscle cell differentiation Any process that activates or increases the frequency, rate or extent of vascular smooth muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl activation of vascular associated smooth muscle cell differentiation|positive regulation of vascular smooth muscle cell differentiation|up regulation of vascular smooth muscle cell differentiation|upregulation of vascular smooth muscle cell differentiation|up-regulation of VSMC differentiation|up-regulation of vascular associated smooth muscle cell differentiation|activation of VSMC differentiation|positive regulation of VSMC differentiation|upregulation of VSMC differentiation|activation of vascular smooth muscle cell differentiation|up-regulation of vascular smooth muscle cell differentiation|upregulation of vascular associated smooth muscle cell differentiation|up regulation of vascular associated smooth muscle cell differentiation|up regulation of VSMC differentiation rph 2016-03-21T11:15:13Z biological_process owl:Class N74606143f6b740a094550a2812bb9514 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:32458 biolink:NamedThing cysteinium tmpxe7fu0cj_hp_relaxed.owl cysteinium|cysteine cation|1-carboxy-2-sulfanylethanaminium|1-carboxy-2-mercaptoethanaminium|H2cys(+) +1 C3H8NO2S InChI=1S/C3H7NO2S/c4-2(1-7)3(5)6/h2,7H,1,4H2,(H,5,6)/p+1 XUJNEKJLAYXESH-UHFFFAOYSA-O 122.16716 122.02703 [NH3+]C(CS)C(O)=O Gmelin:325859 chebi_ontology owl:Class CHEBI:32833 biolink:NamedThing threoninium tmpxe7fu0cj_hp_relaxed.owl threoninium|threonine cation|rel-(1R,2S)-1-carboxy-2-hydroxypropan-1-aminium 0 C4H10NO3 120.127 120.06607 chebi_ontology owl:Class N6f0b87ed888b44fba6eea43cb126b63d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndf12ac0f701947758756ea83a5263889 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5691e66519ff4a709425985830d0a378 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:15676 biolink:NamedThing allantoin An imidazolidine-2,4-dione that is 5-aminohydantoin in which a carbamoyl group is attached to the exocyclic nitrogen. tmpxe7fu0cj_hp_relaxed.owl allantoin|5-Ureidohydantoin|Allantoin|2,5-Dioxo-4-imidazolidinyl-urea|Glyoxyldiureide|N-(2,5-Dioxo-4-imidazolidinyl)urea|N-(2,5-dioxoimidazolidin-4-yl)urea|4-ureido-2,5-imidazolidinedione|5-Ureido-2,4-imidazolidindione|(2,5-Dioxo-4-imidazolidinyl)urea 0 C4H6N4O3 InChI=1S/C4H6N4O3/c5-3(10)6-1-2(9)8-4(11)7-1/h1H,(H3,5,6,10)(H2,7,8,9,11) POJWUDADGALRAB-UHFFFAOYSA-N 158.11560 158.04399 NC(=O)NC1NC(=O)NC1=O Drug_Central:4268|CAS:97-59-6|Wikipedia:Allantoin|HMDB:HMDB0000462|KEGG:C01551|KEGG:D00121|Reaxys:83514|MetaCyc:ALLANTOIN|Patent:US2158098|KNApSAcK:C00007468|LINCS:LSM-5190|PMID:14619112|PMID:11157020|PMID:17190852 CHEBI:13761|CHEBI:22354|CHEBI:2594 chebi_ontology owl:Class CHEBI:73336 biolink:NamedThing vulnerary A drug used in treating and healing of wounds. tmpxe7fu0cj_hp_relaxed.owl vulneraries|wound-healing agent|wound-healing agents|wound-healing drugs|wound-healing drug Wikipedia:Wound_healing chebi_ontology owl:Class N5bb10e2f4527482cb439dba7a3c6ffd8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:47868 biolink:NamedThing photosensitizing agent A chemical compound that can be excited by light of a specific wavelength and subsequently transfer energy to a chosen reactant. This is commonly molecular oxygen within a cancer tissue, which is converted to (highly rective) singlet state oxygen. This rapidly reacts with any nearby biomolecules, ultimately killing the cancer cells. tmpxe7fu0cj_hp_relaxed.owl photosensitising agent chebi_ontology owl:Class N95d4642a714a498eb32da48305b72d64 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:16651 biolink:NamedThing (S)-lactate An optically active form of lactate having (S)-configuration. tmpxe7fu0cj_hp_relaxed.owl L-lactate|(+)-lactate|(2S)-2-hydroxypropanoate|L(+)-lactate|L-(+)-lactate|(S)-lactate -1 C3H5O3 InChI=1S/C3H6O3/c1-2(4)3(5)6/h2,4H,1H3,(H,5,6)/p-1/t2-/m0/s1 JVTAAEKCZFNVCJ-REOHCLBHSA-M 89.07000 89.02442 C[C@H](O)C([O-])=O Beilstein:4655977|MetaCyc:L-LACTATE|UM-BBD_compID:c0152|Reaxys:4655977|Gmelin:324523|KEGG:C00186 CHEBI:12411|CHEBI:18783|CHEBI:11065 chebi_ontology owl:Class UBERON:0000313 biolink:NamedThing portion of cartilage tissue in tibia Cartilage pertaining to the tibia. tmpxe7fu0cj_hp_relaxed.owl cartilage of tibia|tibial cartilage BTO:0000207|FMA:33923 This class represents a portion of cartilage tissue located in the tibia, *not* the cartilaginous condensation of an emrbyonic tibia uberon owl:Class Necd0137db8c8452ca62e3939dcff6108 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004667 biolink:NamedThing interventricular septum muscular part The muscular portion of the wall between the two lower chambers of the heart. tmpxe7fu0cj_hp_relaxed.owl muscular septum|muscular part of interventricular septum|muscular interventricular septum|muscular part interventricular septum|septum membranaceum|pars muscularis (septi interventricularis)|pars muscularis septi interventricularis|ventricular muscular septum|cardiac ventricular muscular septum EHDAA2:0000885|RETIRED_EHDAA2:0000888|FMA:7134|MA:0002940|EMAPA:18247|EHDAA:2607 UBERON:0004144 uberon owl:Class The muscular septum is the lower part of the ventricular septum[GO] N81b43c7ca6dd4f899a426064a402bbb3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne9a8be3a940947e9be74fd36c5cc9831 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0031143 biolink:NamedThing pseudopodium A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. tmpxe7fu0cj_hp_relaxed.owl pseudopodial protrusion|lobopodium|axopodium|pseudopod|reticulopodium https://github.com/geneontology/go-ontology/issues/21141|https://github.com/geneontology/go-ontology/issues/21139 Wikipedia:Pseudopod cellular_component owl:Class HP:0500157 biolink:NamedThing Hypoasparaginemia A decreased amount of asparagine in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood asparagine levels|Decreased blood asparagine concentration 2018-10-05 15:12:38+00:00 owl:Class Nca42dc1c65934953a6f2b9aa9e926ed9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0e058c69e3a54434896ae7a402218032 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0007409 biolink:NamedThing axonogenesis De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. tmpxe7fu0cj_hp_relaxed.owl axon morphogenesis|axon growth|neuron long process generation Note that 'axonogenesis' differs from 'axon development' in that the latter also covers other processes, such as axon regeneration (regrowth after loss or damage, not necessarily of the whole axon). GO:0007410 biological_process owl:Class N97ddc6bd57a84be0ba755cb9bdac62e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N36b5d6472e124518aa8a394afd25d2e5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012312 biolink:NamedThing Monocytopenia An decreased number of circulating monocytes. tmpxe7fu0cj_hp_relaxed.owl Low blood monocyte number SNOMEDCT_US:165539005|UMLS:C0427544 peter 2013-08-10T12:10:07Z human_phenotype owl:Class N8974b18da0d74cf8b30ba6230a8fab08 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000193 biolink:NamedThing Bifid uvula Uvula separated into two parts most easily seen at the tip. tmpxe7fu0cj_hp_relaxed.owl Uvula bifida|Bifid palatine uvula|Cleft of uvula|Split uvula|Forked uvula|Cleft uvula SNOMEDCT_US:18910001|UMLS:C0266122 HP:0000173|HP:0410032 owl:Class Naea51894befb4bccbef4ce6dd6e97a82 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:P35456 biolink:NamedThing urokinase plasminogen activator surface receptor (mouse) A urokinase plasminogen activator surface receptor that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl U-PAR (mouse)|Plaur|CD87 (mouse)|uPAR (mouse)|mPLAUR UniProtKB:P35456 Category=organism-gene. protein owl:Class UBERON:0005027 biolink:NamedThing mucosa of frontal sinus A mucosa that is part of a frontal sinus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl frontal sinus mucosa of organ|frontal sinus mucous membrane|frontal sinus mucosa|organ mucosa of frontal sinus|mucosa of organ of frontal sinus|frontal sinus organ mucosa|mucous membrane of frontal sinus FMA:59774 uberon owl:Class GO:0045815 biolink:NamedThing epigenetic maintenance of chromatin in transcription-competent conformation An epigenetic process that capacitates gene expression by remodelling of chromatin by either modifying the chromatin fiber, the nucleosomal histones, or the DNA. tmpxe7fu0cj_hp_relaxed.owl euchromatin organization|activation of gene expression, epigenetic|positive regulation of gene expression, epigenetic|euchromatin organisation|chromatin-mediated maintenance of transcription|long-term maintenance of gene activation|up regulation of gene expression, epigenetic|maintenance of chromatin in transcription-competent conformation|up-regulation of gene expression, epigenetic|stimulation of gene expression, epigenetic|upregulation of gene expression, epigenetic|euchromatin assembly https://github.com/geneontology/go-ontology/issues/22012|https://github.com/geneontology/go-ontology/issues/21730 This regulation is exemplified by members of the trithorax group, which maintain the active state of homeotic gene transcription. Do not confuse with GO:0140673 ; co-transcriptional chromatin reassembly, which describes the reforming of chromatin after RNA polymerase II passage. GO:0048096 biological_process owl:Class Nbb5e2f3d1a48471abebe606bec9a0ea4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na86b377b7d6345f4997ac2d52126cbb5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N71900dfa949948bf8190f482f337fe97 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na3ca4173d4dd42969d7b6ce3b0d1eaf1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7014fef4b2714b5ebab675657eefc841 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0b7980e838af4975b28e422e221bb223 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:58001 biolink:NamedThing primary aliphatic ammonium ion The conjugate acid of a primary aliphatic amine. tmpxe7fu0cj_hp_relaxed.owl primary aliphatic ammonium cation|primary aliphatic ammonium cations|primary aliphatic ammonium ions|an aliphatic amine +1 CH5NR 31.05710 31.04220 [NH3+]C[*] chebi_ontology owl:Class HP:0003251 biolink:NamedThing Male infertility tmpxe7fu0cj_hp_relaxed.owl Male infertility UMLS:C0021364|SNOMEDCT_US:2904007|MSH:D007248 human_phenotype owl:Class N63adf258c1ff48cdbc16f63f3696e54e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf0c555ee1fb8445eac83122c4dac7b8d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N61a98eb587ce4b9dae801dfb4608d1a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc3c99a5b26cb430789258d7afcf6ebb7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000316 biolink:NamedThing cervical mucus A substance produced by the cervix and endocervical glands[BTO]. Thick acidic mucus that blocks the cervical os after mestruation[WP]. This 'infertile' mucus blocks spermatozoa from entering the uterus. tmpxe7fu0cj_hp_relaxed.owl cervix mucus MESH:D002582|FMA:83689|BTO:0000242 uberon owl:Class CL:1000457 biolink:NamedThing mesothelial cell of visceral peritoneum A mesothelial cell that is part of the visceral peritoneum. tmpxe7fu0cj_hp_relaxed.owl FMA:72143 cell owl:Class N27f4c8b357524f36b69c86759b9e9c77 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001694 biolink:NamedThing petrous part of temporal bone The petrous portion of the temporal bone or pyramid is pyramidal and is wedged in at the base of the skull between the sphenoid and occipital bones. Directed medially, forward, and a little upward, it presents for examination a base, an apex, three surfaces, and three angles, and contains, in its interior, the essential parts of the organ of hearing. The petrous portion is among the most basal elements of the skull and forms part of the endocranium.[WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl temporal bone petrous part|petrosal|petrosal bone|pars petrosa (os temporale)|petrous bone|petromastoid part of temporal bone|pars petrosa ossis temporalis FMA:52871|UMLS:C1261761|EMAPA:17683|NCIT:C32316|GAID:234|VHOG:0001553|MA:0001477|MESH:D010579|EHDAA2:0001452 http://upload.wikimedia.org/wikipedia/commons/9/96/Gray137.png uberon owl:Class The petrosal bone arises from the two otic bones on the lateral wall of the chondrocranium and encases the inner ear of mammals. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Grande_L, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF, p.258, see_Liem_KF][VHOG] derivative of prootic and opisthotic HP:0006264 biolink:NamedThing Aplasia/Hypoplasia of the 2nd finger A small/hypoplastic or absent/aplastic 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped index finger|Absent/small index finger UMLS:C4025072 peter 2008-03-28T03:06:00Z human_phenotype owl:Class Nedf9441d29da4040b7038d1c5e70cd8e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003270 biolink:NamedThing Abdominal distention Distention of the abdomen. tmpxe7fu0cj_hp_relaxed.owl Distended abdomen|Abdominal bloating|Abdominal swelling|Bloating|Abdominal distension|Belly bloating UMLS:C0000731|SNOMEDCT_US:60728008|SNOMEDCT_US:41931001 Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction. HP:0001542|HP:0003364 human_phenotype owl:Class N2507d4e97f944149ba3acfa167b1c74e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030290 biolink:NamedThing Unossified sacrum Lack of ossification of the sacrum. tmpxe7fu0cj_hp_relaxed.owl Absence of sacrum ossification UMLS:C2675562 owl:Class N1f3c5fbcf4844c06a08f1379166f26ed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N076b298a90024c0b8f85c72cf9829f18 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbeb7d7a6eeec41fa827efc32aeda04e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf9d0ac6d4fd24a108ad7dc6ce43006be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N25dbd8d4b93644cfaea188c39d518f0a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na25b1f37f8b8414f8fc9e75c1867c61f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc14ee472fc87435b8e357e278ce1a608 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N18b8c19b1ce74e2dbf8c7436801997ca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndc128276f2014f579deb52a6dc72fe99 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000014 biolink:NamedThing germ line stem cell tmpxe7fu0cj_hp_relaxed.owl germline stem cell cell owl:Class UBERON:0005299 biolink:NamedThing prepuce of clitoris A retractable double-layered fold of skin and mucous membrane that covers the clitoral glans. tmpxe7fu0cj_hp_relaxed.owl prepuce of female|prepuce of the clitoris|clitoris prepuce|clitoral prepuce|clitoral hood|preputium clitoridis NCIT:C32590|UMLS:C0227771|FMA:20169|EMAPA:30699 http://upload.wikimedia.org/wikipedia/commons/b/bd/Clitoris_outer_anatomy.gif uberon owl:Class FMA has FMA:27886 skin of prepuce of clitoris HP:0009693 biolink:NamedThing Pseudoepiphysis of the thumb A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb. tmpxe7fu0cj_hp_relaxed.owl Pseudoepiphyses of the thumb UMLS:C3552484 doelkens 2009-01-30T09:20:16Z owl:Class Na1cd85a1f3214113b09b103351b4cc34 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001099 biolink:NamedThing Fundus atrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C2673929 human_phenotype owl:Class N5f12eeed77c94337be0ca40e49d50133 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0032164 biolink:NamedThing Increased blood folate concentration An elevated circulating concentration of folic acid, which is also known as vitamin B9. tmpxe7fu0cj_hp_relaxed.owl 2018-12-09 14:04:29+00:00 peter owl:Class Na14498c6a1d941a1a408510e88e45790 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndf3af66ae9e2499c920df27524250db8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb864f0f63b1d486ea544c2a2267532d1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb358e177138247e8bb17afe9cc823f70 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0036351 biolink:NamedThing wall of brachiocephalic artery tmpxe7fu0cj_hp_relaxed.owl brachiocephalic arterial wall FMA:15089 uberon owl:Class HP:0010453 biolink:NamedThing Pelvic bone asymmetry Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology. tmpxe7fu0cj_hp_relaxed.owl Pelvic asymmetry|Asymmetric pelvis UMLS:C4021263 peter 2009-09-14T11:01:50Z human_phenotype owl:Class Nbf949f50f14b4b5588147d4e75a59de5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0051169 biolink:NamedThing nuclear transport The directed movement of substances into, out of, or within the nucleus. tmpxe7fu0cj_hp_relaxed.owl nucleus transport Wikipedia:Nuclear_transport biological_process owl:Class N5242745145e94c7891a95e1424475ea7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0022011 biolink:NamedThing myelination in peripheral nervous system The process in which neuronal axons and dendrites become coated with a segmented lipid-rich sheath (myelin) to enable faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. tmpxe7fu0cj_hp_relaxed.owl peripheral nervous system myelination biological_process owl:Class HP:0100614 biolink:NamedThing Myositis A general term for inflammation of the muscles without respect to the underlying cause. tmpxe7fu0cj_hp_relaxed.owl Muscle inflammation SNOMEDCT_US:128496001|UMLS:C0027121|MSH:D009220|SNOMEDCT_US:26889001 Many such conditions are considered likely to be caused by autoimmune conditions, rather than directly due to infection, although autoimmune conditions can be activated or exacerbated by infections. It is also a documented side effect of the lipid-lowering drugs such as statins and fibrates. Elevation of creatine kinase in blood is indicative of myositis. doelkens 2010-12-28T11:14:59Z human_phenotype owl:Class Na806195ec7ae482c960e5fa2e115a73b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:3000002 biolink:NamedThing Abnormal inner ear epithelium morphology Any structural anomaly of an inner ear epithelium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073211 haendel 2014-07-15T23:41:38Z human_phenotype owl:Class N85d7614a42474566b1e8f208431a34da biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030371 biolink:NamedThing Increased proportion of naive B cells An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072910 owl:Class N94a0d18396a94a1399e520a6cc271f84 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:132961 biolink:NamedThing methylsuccinate A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of 3-methylsuccinic acid. tmpxe7fu0cj_hp_relaxed.owl 2-methylbutanedioic acid anion|methylsuccinates|methylsuccinic acid anions|methylsuccinic acid anion|2-methylbutanedioic acid anions|methylsuccinate anion chebi_ontology owl:Class CHEBI:91315 biolink:NamedThing 2-methylbutanedioic acid A dicarboxylic acid that is butanedioic acid substituted at position 2 by a methyl group. tmpxe7fu0cj_hp_relaxed.owl 2-methylbutanedioic acid 0 C5H8O4 InChI=1S/C5H8O4/c1-3(5(8)9)2-4(6)7/h3H,2H2,1H3,(H,6,7)(H,8,9) WXUAQHNMJWJLTG-UHFFFAOYSA-N 132.115 132.04226 OC(=O)C(CC(O)=O)C chebi_ontology owl:Class N5c60d0ba6c734de6b103b5eadae3ff4d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2441de9c555748ae80a922f3e29fcda7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002492 biolink:NamedThing sagittal suture The dense, fibrous connective tissue joint between the tetrapod parietal bones. tmpxe7fu0cj_hp_relaxed.owl sutura sagittalis|sagittal suture of skull FMA:52929|MA:0002798|EMAPA:19224 http://upload.wikimedia.org/wikipedia/commons/2/24/Kort-lang-skalle.gif uberon owl:Class N682326690dd04307be9bf5b19df0bfcb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7225f06c6e984ef6b2e21a50d62c9e84 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011487 biolink:NamedThing Increased corneal thickness A increased anteroposterior thickness of the cornea. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3810451 peter 2012-04-02T10:17:35Z human_phenotype owl:Class N8e983d2aa41d4bf7b451a108a5ce671e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009100 biolink:NamedThing Thick anterior alveolar ridges tmpxe7fu0cj_hp_relaxed.owl Thick anterior alveolar process of jaw UMLS:C1859377 human_phenotype owl:Class N62d53f6b635b4865b1ade0aeacc01e09 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100869 biolink:NamedThing Palmar telangiectasia The presence of telangiectases on the skin of palm of hand. tmpxe7fu0cj_hp_relaxed.owl Teleangiectases of palms|Telangiectases of palms and soles UMLS:C4020948 doelkens 2011-11-30T11:19:45Z HP:0007399 human_phenotype owl:Class N505e88e659e04d24acb9c5be9daa4bad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005045 biolink:NamedThing Diaphyseal cortical sclerosis An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1833739 human_phenotype owl:Class N309c5cf7cbb84f519d32af23360c07d9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000771 biolink:NamedThing Gynecomastia Abnormal development of large mammary glands in males resulting in breast enlargement. tmpxe7fu0cj_hp_relaxed.owl Gynaecomastia|Enlarged male breast MSH:D006177|UMLS:C0018418|SNOMEDCT_US:4754008 HP:0000770 human_phenotype owl:Class Ne6ad3bec8df542f69e150feab96d495a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011265 biolink:NamedThing Cleft earlobe Discontinuity in the convexity of the inferior margin of the lobe. tmpxe7fu0cj_hp_relaxed.owl Cleft earlobe UMLS:C4023440 The cleft is often more visible if the lobe is pulled forward or when seen from behind. Tears acquired from earrings should be distinguished. peter 2011-12-18T07:39:52Z owl:Class Nfeadf8b9ee9f4833ac03403520d5faa7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2165beeb59004e5984829acc972dc240 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010075 biolink:NamedThing Duplication of the 1st metatarsal A developmental defect consisting in the duplication of the first metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Duplicated 1st long bone of foot|Duplicated first metatarsals UMLS:C1851855 doelkens 2009-05-29T12:13:57Z human_phenotype owl:Class Nd124bd5170754743b1cb5c70c2b22170 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf4accd0acef649cb83a82dae257cf1d9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N198b4b9cdf0643ceb595135990759eec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030305 biolink:NamedThing Decreased number of vertebrae tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022522 owl:Class Na6ea88d2a26b4873b9c805d521c4ca3a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3e22f7ab6d134d6f902dc25f90ecb59c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001233 biolink:NamedThing right adrenal gland An adrenal gland that is in the right side of the abdomen. tmpxe7fu0cj_hp_relaxed.owl glandula suprarenalis dexter|right suprarenal gland MA:0000719|NCIT:C49325|EMAPA:37357|FMA:15629|UMLS:C0229559 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern In humans, the right adrenal gland is triangular shaped GO:0021719 biolink:NamedThing superior olivary nucleus morphogenesis The process in which the anatomical structure of the superior olivary nucleus is generated and organized. In mice, the superior olivary nucleus is a small cylindrical mass on the dorsal surface of the lateral part of the trapezoid body of the pons, and it is situated immediately above the inferior olivary nucleus. It receives projections from the cochlear nucleus and thus is involved in the perception of sound. tmpxe7fu0cj_hp_relaxed.owl superior olive morphogenesis biological_process owl:Class N9290dec5c6404d8c8dadbb94cbddfc1f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1702991acf974b4cbc272353f844eb3f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nac8892f6af4342e697adc5ba92033e86 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N17092e48be8643f0976ff45794347858 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010566 biolink:NamedThing manual digit 2 metacarpus pre-cartilage condensation A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 2 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl manual digit II metacarpus pre-cartilage condensation|finger 2 metacarpus pre-cartilage condensation|metacarpal 2 pre-cartilage condensation|fore limb digit 2 metacarpus pre-cartilage condensation|hand digit 2 metacarpus pre-cartilage condensation EHDAA2:0000521|EMAPA:17716 uberon owl:Class CHEBI:33913 biolink:NamedThing corrinoid A derivative of the corrin nucleus, which contains four reduced or partly reduced pyrrole rings joined in a macrocycle by three =C- groups and one direct carbon-carbon bond linking alpha positions. tmpxe7fu0cj_hp_relaxed.owl corrinoid|corrinoides|Korrinoid|Corrinoid protein|Corrinoid protein Co+|Corrinoid|corrinoids|corrinoide 0 C19HN4R21 285.239 285.02012 KEGG:C06021 CHEBI:23391|CHEBI:3890 chebi_ontology owl:Class UBERON:0007501 biolink:NamedThing arborizing epithelial duct system A collection of connected epithelial tubes with a single portal. tmpxe7fu0cj_hp_relaxed.owl arborising epithelial duct system AEO:0000117|EHDAA2:0003117 EHDAA2:0003117 uberon owl:Class N60656a4599734b029f60a61a37b21a8e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc8d3bd52071c46be93a7cf0123105195 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001631 biolink:NamedThing thoracic duct A major lymphatic vessel that drains lymph from the lower body, left appendage, and left thorax into the junction of the left jugular and subclavian veins. tmpxe7fu0cj_hp_relaxed.owl ductus thoracicus|trunk of thoracic duct tree FMA:5031|EHDAA2:0004501|UMLS:C0039979|NCIT:C33768|MA:0002801|GAID:1290|MESH:A15.382.520.869|ZFA:0005110|TAO:0005110|EMAPA:19310 http://upload.wikimedia.org/wikipedia/commons/7/75/Gray599.png placement of the ZFA class here is dubious uberon owl:Class Lymphatic trunk that connects all tributaries of the thoracic duct tree to the trunk of the left brachiocephalic vein.|The thoracic duct is the first perfused lymphatic, located between the dorsal aorta and posterior cardinal vein. UBERON:0006210 biolink:NamedThing body-wall mesenchyme tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000179|EHDAA:3217|EMAPA:16893 uberon owl:Class N58f338eceb5b42faa2441d1455b42620 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4d782e8921d34aa885950ee4ed10e762 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N509cb83f0e5f4c46866b49dd9ea735b2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N86db9feff0884b5497ef377d7a23a166 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005696 biolink:NamedThing pedal digit 2 mesenchyme Mesenchyme that is part of a developing pedal digit 2. tmpxe7fu0cj_hp_relaxed.owl hind limb digit 2 mesenchyme|foot digit 2 mesenchyme|pedal digit II mesenchyme EHDAA2:0002044|EMAPA:17465 uberon owl:Class N4be03f08af65403e82d1234f25f7d242 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8f15718e105641c0ba5f70587aebacea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0032105 biolink:NamedThing negative regulation of response to extracellular stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an extracellular stimulus. tmpxe7fu0cj_hp_relaxed.owl downregulation of response to extracellular stimulus|down-regulation of response to extracellular stimulus|inhibition of response to extracellular stimulus|down regulation of response to extracellular stimulus biological_process owl:Class Nfe50bdb966dd4d4ea926ffb570035d64 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006202 biolink:NamedThing Osteolysis of scaphoids tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025082 human_phenotype owl:Class N95dc588051d9425b9102dabe22620e89 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001459 biolink:NamedThing skin of external ear A zone of skin that is part of a external ear [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl external ear zone of skin|auricular region zone of skin|zone of skin of auricular region|external ear skin|zone of skin of auricular region of head|zone of skin of outer ear|zone of skin of external ear|ear skin|auricular region of head zone of skin|outer ear zone of skin FMA:24775|EMAPA:35301|NCIT:C49481|UMLS:C0222110|MA:0001233 uberon owl:Class HP:0004490 biolink:NamedThing Calvarial hyperostosis Excessive growth of the calvaria. tmpxe7fu0cj_hp_relaxed.owl Enlargement of calvarial bones|Excessive growth of calvarial bones|Overgrowth of skullcap|Overgrowth of calvarial bones|Hypertrophy of calvarial bones|Hyperostosis of calvarial bones|Thick calvarial bones|Increased ossification of calvarial bones MSH:C537963|UMLS:C4280520|UMLS:C4280519|UMLS:C1863351 The calvaria (skull cap) is made up of the frontal, occipital, right and left parietal, right and left temporal, sphenoid, and ethmoid bones, and thus comprises the upper dome-like part of the skull and does not include the lower jaw. human_phenotype owl:Class Na9a91da5245e42088f4b47b29afac024 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0018251 biolink:NamedThing meningeal vein One of the veins draining a meninix. tmpxe7fu0cj_hp_relaxed.owl SCTID:84842006|FMA:50839 uberon owl:Class In humans, any of several veins that accompany the meningeal arteries, communicate with the sinuses of the dura mater and diploic veins, and drain into the regional veins outside the cranial vault. CL:0017503 biolink:NamedThing basophilic cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2009-12-22T04:24:54Z cell owl:Class HP:0100583 biolink:NamedThing Corneal perforation A rupture of the cornea through which a portion of the iris protrudes. tmpxe7fu0cj_hp_relaxed.owl Iridocele UMLS:C0948060|SNOMEDCT_US:74895004|MSH:D057112|UMLS:C0339293 doelkens 2010-12-27T02:52:19Z HP:0100793 human_phenotype owl:Class N869e9d10fe074785affcef2ea8d10176 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N10b29d0fcce046009540a81c7cc5b0cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncfcf441386184ffa817569528ecf42cf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfa32dd8dead4471a87268d7b33e413a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2f621084ce3443fb8230b9af83482e9d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100710 biolink:NamedThing Impulsivity Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress. tmpxe7fu0cj_hp_relaxed.owl Impulsive|Impulsivity MSH:D007175|UMLS:C0021125 doelkens 2011-04-07T05:36:16Z owl:Class Nccd17e8431dc46f6ac4b6342a80a6d81 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007633 biolink:NamedThing Bilateral microphthalmos A developmental anomaly characterized by abnormal smallness of both eyes. tmpxe7fu0cj_hp_relaxed.owl Bilateral nanophthalmos|Abnormally small eyeball on both sides|Microphthalmia, bilateral|Decreased size of eyeballs|Decreased size of globes of eyes UMLS:C4280421|UMLS:C4280422|UMLS:C1843496 HP:0001143|HP:0001585 human_phenotype owl:Class Nc69d1a2490f5441fbf95522779003285 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:507393 biolink:NamedThing taurine zwitterion The zwitterion formed from taurine by transfer of a proton from the sulfonyl to the amino group. It is the major species existing at physiological pH. tmpxe7fu0cj_hp_relaxed.owl taurine|2-ammonioethanesulfonate|2-azaniumylethane-1-sulfonate 0 C2H7NO3S InChI=1S/C2H7NO3S/c3-1-2-7(4,5)6/h1-3H2,(H,4,5,6) XOAAWQZATWQOTB-UHFFFAOYSA-N 125.14700 125.01466 [NH3+]CCS([O-])(=O)=O PMID:17765547 chebi_ontology owl:Class N68790c5d8c0745ecae16c84e1589214d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc2db54149e8a4743ab4c537eb5f97320 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000691 biolink:NamedThing Microdontia Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. tmpxe7fu0cj_hp_relaxed.owl Small teeth|Hypotrophic tooth|Tooth hypotrophy|Decreased size of tooth|Small tooth|Underdeveloped tooth|Tooth hypoplasia|Decreased width of tooth SNOMEDCT_US:32337007|UMLS:C4280611|UMLS:C4280612|UMLS:C0240340 Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately. owl:Class N6f72d9703f6b471d8f0ed42ea16b6061 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N175947310f7b462bbaebef59b9b5686f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:68566 biolink:NamedThing 3-methylglutaric acid An alpha,omega-dicarboxylic acid that is glutaric acid substituted at position 3 by a methyl group. tmpxe7fu0cj_hp_relaxed.owl 3-methylpentanedioic acid|beta-methylglutaric acid 0 C6H10O4 InChI=1S/C6H10O4/c1-4(2-5(7)8)3-6(9)10/h4H,2-3H2,1H3,(H,7,8)(H,9,10) XJMMNTGIMDZPMU-UHFFFAOYSA-N 146.14120 146.05791 CC(CC(O)=O)CC(O)=O LIPID_MAPS_instance:LMFA01170117|Reaxys:1759502|HMDB:HMDB0000752|PMID:22770225|CAS:626-51-7 chebi_ontology owl:Class UBERON:0004907 biolink:NamedThing lower digestive tract The region of the digestive tract extending from the beginning of the intestines to the anus[GO - gut definition]. tmpxe7fu0cj_hp_relaxed.owl lower GI tract|gut|lower gastrointestinal tract UMLS:C0226875|FMA:49179|galen:LowerGastrointestinalTract|NCIT:C33010 uberon owl:Class WP: small intestine, large intestine, anus. Anal canal not part of LGIT according to FMA, but anus is considered part of LGIT according to WP. Duodenum overlaps both U/L|MA class was moved from here. See https://github.com/obophenotype/uberon/issues/509 GO:0007626 biolink:NamedThing locomotory behavior tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:32504 biolink:NamedThing phenylalaninate An aromatic amino-acid anion that is the conjugate base of phenylalanine, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl 2-amino-3-phenylpropanoate|phenylalaninate|phenylalanine anion -1 C9H10NO2 InChI=1S/C9H11NO2/c10-8(9(11)12)6-7-4-2-1-3-5-7/h1-5,8H,6,10H2,(H,11,12)/p-1 COLNVLDHVKWLRT-UHFFFAOYSA-M 164.18120 164.07170 NC(Cc1ccccc1)C([O-])=O Gmelin:329083 chebi_ontology owl:Class UBERON:0010084 biolink:NamedThing future diaphragm A structure that will develop into a diaphragm. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000599 uberon owl:Class N3dfa6afa60fe4584852f70c0667a7983 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb530e6f8c25c43faa090ebb456721420 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1903012 biolink:NamedThing positive regulation of bone development Any process that activates or increases the frequency, rate or extent of bone development. tmpxe7fu0cj_hp_relaxed.owl activation of bone development|up-regulation of bone development|upregulation of bone development|up regulation of bone development mr 2014-05-13T22:42:06Z biological_process owl:Class N93b385d831a0483fbb189ce2470c26e2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7551305fc3ff4efb9d29955e5314b18b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N89951be6d2be4e8e81bc363ea9d42b6f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N827530cb2a434c82afa8d056a8788a58 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014452 biolink:NamedThing gustatory epithelium of tongue A gustatory epithelium that is part of a tongue. tmpxe7fu0cj_hp_relaxed.owl lingual gustatory epithelium BIRNLEX:4099|UMLS:C1179150 uberon owl:Class HP:0000613 biolink:NamedThing Photophobia Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. tmpxe7fu0cj_hp_relaxed.owl Extreme sensitivity of the eyes to light|Photodysphoria|Light hypersensitivity UMLS:C0085636|UMLS:C4020887|SNOMEDCT_US:246622003|MSH:D020795|SNOMEDCT_US:409668002 Note that the term photodysphoria is used to describe extreme photophobia. owl:Class Nbc9c50fa6e5c4b16ab34234a9e0b1fbd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0051647 biolink:NamedThing nucleus localization Any process in which the nucleus is transported to, and/or maintained in, a specific location within the cell. tmpxe7fu0cj_hp_relaxed.owl nucleus localisation|localization of nucleus|establishment and maintenance of nucleus localization|cell nucleus localization biological_process owl:Class CHEBI:30795 biolink:NamedThing malonate(1-) tmpxe7fu0cj_hp_relaxed.owl carboxyacetate|HOOC-CH2-COO(-)|Malonic acid, conjugate base|Hmalo -1 C3H3O4 InChI=1S/C3H4O4/c4-2(5)1-3(6)7/h1H2,(H,4,5)(H,6,7)/p-1 OFOBLEOULBTSOW-UHFFFAOYSA-M 103.05352 103.00368 OC(=O)CC([O-])=O Beilstein:3904186|Gmelin:324637 chebi_ontology owl:Class Ncbfeb1a021bf4882b21a95bbcfaf6a33 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N46254cf5193b4191a29aa663e7d61f2d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N19dcdfa249ce43c5ad31835642eba15d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7ee3978ae3ba438b89fd5044473fcaa4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9bcd6a835ea3423d9b712b13bcc34c06 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2e5b310bc1ba461186564baa9ac3d73f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb39d84b78347414f9d1c95ec06022f1c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nebe5f3f0545c4898ac36958298158f78 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000567 biolink:NamedThing Chorioretinal coloboma Absence of a region of the retina, retinal pigment epithelium, and choroid. tmpxe7fu0cj_hp_relaxed.owl Coloboma of choroid|Choroidal coloboma|Birth defect that causes a hole in the innermost layer at the back of the eye|Choroidoretinal coloboma|Choroid coloboma SNOMEDCT_US:39302008|UMLS:C0240896 HP:0007718|HP:0007956|HP:0000611|HP:0007784 human_phenotype owl:Class Na95ac7ed8cf14026adf31c8f2ee721ef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na398c009079a41878eb07ccc9ccf406f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004766 biolink:NamedThing cranial bone A bone that is part of a cranium. tmpxe7fu0cj_hp_relaxed.owl cranium bone SCTID:181792001 here cranium = skull - mandible uberon owl:Class HP:0004045 biolink:NamedThing Sloping ulnar metaphysis A sloped configuration of the metaphysis (shaft) of the ulna. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025419 human_phenotype owl:Class N291110b3165346278cf16d892230029d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004698 biolink:NamedThing vena cava endothelium An endothelium that is part of a vena cava [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1710623|MA:0000713|EMAPA:37800|NCIT:C49318 uberon owl:Class N487a8e910d21495481fbec4d0c3334d9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf4600addc2c54012bc84b4103bd8881b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne9f688808f5a4d4aaf275d5199817fa2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N36749ec4f7764e26a07883118cb318c2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009549 biolink:NamedThing hepatic sinusoid of right of lobe of liver A hepatic sinusoid that is part of a right lobe of liver. tmpxe7fu0cj_hp_relaxed.owl right lobe hepatic sinusoids EHDAA2:0001009|EMAPA:18316|VHOG:0000710 uberon owl:Class HP:0005990 biolink:NamedThing Thyroid hypoplasia Developmental hypoplasia of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic thyroid|Small thyroid gland SNOMEDCT_US:367524008|MSH:D050033|UMLS:C0151516 human_phenotype owl:Class Nf3647a77b7334294a974f583e723ee39 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbfc58b201043459e8705832148f16fc3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1dbddc0781104d3e8286b5eab2cf8e5f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0e85e00548144dca89015245d50fbcd0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0002263 biolink:NamedThing cell activation involved in immune response A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. tmpxe7fu0cj_hp_relaxed.owl cell activation during immune response biological_process owl:Class CHEBI:26348 biolink:NamedThing prosthetic group A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity. tmpxe7fu0cj_hp_relaxed.owl prosthetic group|prosthetic groups|groupe prosthetique chebi_ontology owl:Class Nd61d3f23a0fc4367aec6734a7f373446 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8a209deda2f94ac2a748da00de526f62 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9a2735aed9744594a4cad30b2e853443 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nff1bafec3ad74607a85be7bfa56dbc2d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naea8be14d93e4c11bb8ebb435a997b2a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011854 biolink:NamedThing acinus of areolar gland An acinus that is part of a areolar gland. tmpxe7fu0cj_hp_relaxed.owl areolar gland acinus FMA:62081 uberon owl:Class Ne8722d95082d49cf890fef0f8adb7949 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5282e812f2d54a55ba7ce4b271d1afd4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004089 biolink:NamedThing midface The middle of the face including the nose and its associated bony structures[MW]. tmpxe7fu0cj_hp_relaxed.owl midface/lower face|lower face|snout EMAPA:32806|MA:0001910|FMA:285406 this class is currently a union of the snout (e.g. in mouse), the midface and the lower face. Note that in MA, snout includes the whole jaw and should thus be more alike the lower face than the midface, so its placement here is not strictly accurate. In future we might introduce specific classes for each of these, and include the full parthood relationships. if this is done, then care should be taken to preserve inferences such as an abnormality of the lower face being an abnormality of the midface. uberon owl:Class midfacial UBERON:0018674 biolink:NamedThing heart vasculature An interconnected tubular multi-tissue structure that contains fluid that is actively transported around the heart. tmpxe7fu0cj_hp_relaxed.owl cardiac vasculature FMA:73747|ZFA:0005811 uberon owl:Class N09ac13693abc4e6591475285afdae222 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3f32d58c810d46c5b64be6c35ed8a948 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0cf7a8710f854356aa06c39ca2f91dfd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100140 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the outermost bone of the 3rd toe UMLS:C4022281 doelkens 2010-06-24T10:23:44Z human_phenotype owl:Class Ncd7e36a5e03c46fb84ffad768e0904a7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na93142474b3a41ea90c94622023b8350 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060038 biolink:NamedThing cardiac muscle cell proliferation The expansion of a cardiac muscle cell population by cell division. tmpxe7fu0cj_hp_relaxed.owl heart muscle cell proliferation|cardiac myocyte proliferation|cardiomyocyte proliferation biological_process owl:Class Nda81fe311cca40819556a92fe7c3c388 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N21e5933e54ce497e80df8cc2de83ae92 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0010820 biolink:NamedThing positive regulation of T cell chemotaxis Any process that increases the rate, frequency or extent of T cell chemotaxis. T cell chemotaxis is the directed movement of a T cell in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Nce0189b90ceb41c2af806782eb30b188 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008424 biolink:NamedThing Hypoplastic 5th lumbar vertebrae tmpxe7fu0cj_hp_relaxed.owl Underdeveloped 5th lumbar vertebrae UMLS:C1859366 human_phenotype owl:Class N0f7f37d9a9c843beacfe4e728df48788 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N539c971b1afe4d9a881a06e635c53bc3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006645 biolink:NamedThing Thin clavicles Abnormally reduced diameter (cross section) of the clavicles. tmpxe7fu0cj_hp_relaxed.owl Thin collarbone SNOMEDCT_US:298764003|UMLS:C0575535 owl:Class N0dd84c533c1241c9aa8abc4cc4b3315d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4d5f78b3a6024585bdab2a033797ef33 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005843 biolink:NamedThing sacral spinal cord A spinal cord segment that adjacent_to a sacral region. tmpxe7fu0cj_hp_relaxed.owl sacral segment of spinal cord|pars sacralis medullae spinalis|segmenta sacralia medullae spinalis [1-5]|sacral segments of spinal cord [1-5] UMLS:C0581669|NCIT:C12896|MA:0003085|FMA:256623|BIRNLEX:1275|UMLS:C1280196 uberon owl:Class N4b51d413ad1346faa0060fc6a7782c5b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naf9ca0e89e1b4e8db35a62aac1779934 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1902217 biolink:NamedThing erythrocyte apoptotic process Any apoptotic process in an erythrocyte. tmpxe7fu0cj_hp_relaxed.owl RBC apoptosis|erythrocyte apoptosis|red blood cell apoptotic process|RBC apoptotic process|red blood cell apoptosis rl 2013-06-13T10:02:29Z biological_process owl:Class Ndb91c6fcf0c64571b993546916deeaf3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007386 biolink:NamedThing pelvic appendage lymph vessel A lymphatic vessel that is part of a pelvic appendage. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class N21565fdf599442a4b912ad6fe3a3a005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002562 biolink:NamedThing Low-set nipples Placement of the nipples at a lower than normal location. tmpxe7fu0cj_hp_relaxed.owl Low-set nipples UMLS:C1836933 human_phenotype owl:Class N350cf6fc7f824684a6248877dc0de03b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008747 biolink:NamedThing Cartilaginous ossification of larynx Ossification affecting the set of cartilages of larynx. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855622 This term describes abnormal ossification affecting one or more of the cartilages of the larnyx (cricoid cartilage, thyroid cartilage, epiglottic cartilage, arytenoid cartilage, corniculate cartilage, cuneiform cartilage, triticeal cartilage, and sesamoid cartilage). human_phenotype owl:Class Ndb7fde4a382647cdbf9f2bd102813a16 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N81e977b4849c4a3388781274d22c9bc8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N138f4c5dfa7744dba4a074f357fcd69e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0014895 biolink:NamedThing smooth muscle hypertrophy The enlargement or overgrowth of all or part of an organ due to an increase in size of its smooth muscle cells without cell division. Physiological hypertrophy is a normal process during development, and can also occur in mature structures on demand. In the uterus, smooth muscle cells undergo hypertrophy during pregnancy. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0010215 biolink:NamedThing arytenoid swellings Paired primordial elevations, on either side of the embryonic larynx, within which the arytenoid cartilages are formed. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000146 uberon owl:Class EHDAA2 and EMAPA appear to be inconsistent HP:0033142 biolink:NamedThing Long nasal bridge Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. tmpxe7fu0cj_hp_relaxed.owl 2020-09-15 10:21:30+00:00 peter owl:Class N8a42e53b14c1468e8cb6daf79f8db5b0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100708 biolink:NamedThing Abnormal microglia morphology An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the microglia UMLS:C4021990 Microglial cells represent a central nervous system macrophage found in the parenchyma of the central nervous system. doelkens 2011-04-03T02:37:09Z owl:Class Nb04891de17b146da93acf491620d9e72 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:29922 biolink:NamedThing sulfo group tmpxe7fu0cj_hp_relaxed.owl sulfo|-S(O)2(OH)|hydroxydioxo-lambda(6)-sulfanyl|SULFO GROUP|hydroxysulfonyl 0 HO3S 81.07214 80.96464 S(=O)(O)(*)=O PDBeChem:SFO chebi_ontology owl:Class N06486c2ffe014c6bb132691e7cc8c0b9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0043587 biolink:NamedThing tongue morphogenesis The process in which the anatomical structures of the tongue are generated and organized. The tongue is the movable, muscular organ on the floor of the mouth of most vertebrates, in man other mammals is the principal organ of taste, aids in the prehension of food, in swallowing, and in modifying the voice as in speech. tmpxe7fu0cj_hp_relaxed.owl lingua morphogenesis|glossa morphogenesis biological_process owl:Class GO:0043586 biolink:NamedThing tongue development The process whose specific outcome is the progression of the tongue over time, from its formation to the mature structure. The tongue is the movable, muscular organ on the floor of the mouth of most vertebrates, in many other mammals is the principal organ of taste, aids in the prehension of food, in swallowing, and in modifying the voice as in speech. tmpxe7fu0cj_hp_relaxed.owl glossa development|lingua development biological_process owl:Class Ne5fa91ea30c04a309d2a5ae639799d09 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:2007013 biolink:NamedThing preplacodal ectoderm Non neural ectoderm that surrounds the presumptive neural plate and gives rise to neurogenic placodes. tmpxe7fu0cj_hp_relaxed.owl ZFA:0007013 teleost_anatomy_curators uberon owl:Class This class was sourced from an external ontology (teleost_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon Ndd805b0c14524dd89159d85512278714 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N369a42b71ee349e0970c29292bdfbb3e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006222 biolink:NamedThing future diencephalon The foremost region of the future forebrain that develops into the diencephalon. tmpxe7fu0cj_hp_relaxed.owl presumptive diencephalon RETIRED_EHDAA2:0000386|EMAPA:16514|EHDAA:844|EHDAA2:0000600|ZFA:0000574|EFO:0003442|TAO:0000574 uberon owl:Class UBERON:0001430 biolink:NamedThing distal carpal bone 1 tmpxe7fu0cj_hp_relaxed.owl trapezium|hand distal carpal bone 1|distal carpal 1|greater multangular|trapezium bone|greater multiangular|carpal 1|trapezial bone|manus distal carpal bone 1|os trapezium|greater multangular bone galen:Trapezium|OpenCyc:Mx4rv3CbrJwpEbGdrcN5Y29ycA|FMA:23721|UMLS:C0223736|VSAO:0005043|AAO:0010634|NCIT:C12857|MA:0001340|EMAPA:36173 uberon owl:Class located between radiale and first metacarpal[VSAO]. in humans - The capitate articulates with 1st metacarpal distally, scaphoid proximally, trapezoid medially, 2nd metacarpal medially HP:0040318 biolink:NamedThing Red urine An abnormal red color of the urine. tmpxe7fu0cj_hp_relaxed.owl http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean ORCID:0000-0002-5316-1399 owl:Class N9a37f5feb857446597b5e8b6cc12cbb6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8ec91cef14eb412db9df72629298b673 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N279ec4d012214d34b283cd9e0d4c3e6b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N69c718532d1844708eb212068b13aecd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N49575562d8194f1d837c59fcc1969281 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001923 biolink:NamedThing Reticulocytosis An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. tmpxe7fu0cj_hp_relaxed.owl Polychromasia|Increased immature red blood cells|Increased reticulocytes|Increased reticulocyte count|Increased number of immature red blood cells UMLS:C0206160|SNOMEDCT_US:46049004|MSH:D045262 owl:Class N925bb6407ad74f7d836e276604f41577 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6a4376536f504627805a27463058a74c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndf2219f403484f71a3ea342a86c83d03 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:2000064 biolink:NamedThing ovarian surface epithelial cell Any epithelial cell that is part of a female gonad. tmpxe7fu0cj_hp_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7310 TermGenie 2014-10-07T17:59:13Z cell owl:Class GO:0032964 biolink:NamedThing collagen biosynthetic process The chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). tmpxe7fu0cj_hp_relaxed.owl collagen synthesis|collagen formation|collagen biosynthesis|collagen anabolism biological_process owl:Class N0c2cc0eaf8004d1ca46f7ca63cf175a0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010879 biolink:NamedThing tusk A calcareous tooth that is elongated and protrudes from the mouth. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class Elongated, continuously growing front teeth, usually but not always in pairs, that protrude well beyond the mouth of certain mammal species. They are most commonly canines, as with warthogs, pig, and walruses, or, in the case of elephants and narwhals, elongated incisors. In most tusked species both the males and the females have tusks although the males are larger. Tusks are generally curved, though the narwhal's sole tusk is straight and has a helical structure. In the elephant, the tusks were originally second incisors. Continuous growth is enabled by formative tissues in the apical oproperty_value external_definitionof the roots of the teeth Nf934a8a1b4a349f38073d0a481b4158b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N013bb0ec15cb40a5ab5d06bc9334935b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd5a97b5d51e74e059886ee770048fe0b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5be003f69d0643da82b1b3baddf353e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne0928c2720b24a1d8ab3b30b916631f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3a7a9b882e1f417d9ddf34f9282b4e49 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005200 biolink:NamedThing Retroperitoneal fibrosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C0035357|SNOMEDCT_US:49120005|MSH:D012185 human_phenotype owl:Class Ne643114f61d74eb8a010ccbef1fda8b2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd370208300cf49bfb61f66fe7d189aa2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009958 biolink:NamedThing bladder lumen An anatomical space that is enclosed by a urinary bladder. tmpxe7fu0cj_hp_relaxed.owl urinary bladder lumen|bladder cavity|cavity of urinary bladder|lumen of urinary bladder galen:UrinaryBladderCavity|EHDAA2:0004058|FMA:15924 uberon owl:Class N63b1b2b507694da0ba65725321b47942 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0035735 biolink:NamedThing intraciliary transport involved in cilium assembly The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. tmpxe7fu0cj_hp_relaxed.owl intraciliary transport involved in cilium morphogenesis|intraflagellar transport|intraflagellar transport involved in cilium morphogenesis Reactome:R-HSA-5620924.2 bf 2011-03-17T10:55:42Z biological_process owl:Class CHEBI:17893 biolink:NamedThing (2R)-2-hydroxy monocarboxylic acid A 2-hydroxy monocarboxylic acid having (2R)-configuration. tmpxe7fu0cj_hp_relaxed.owl (2R)-2-hydroxy monocarboxylic acids|(R)-2-Hydroxyacid|(R)-2-Hydroxycarboxylic acid|(2R)-Hydroxy-carboxylate 0 C2H3O3R 75.04340 75.00822 O[C@H]([*])C(O)=O KEGG:C15487|KEGG:C02489 CHEBI:10973|CHEBI:309|CHEBI:18649 chebi_ontology owl:Class CHEBI:52255 biolink:NamedThing hydroxylapatite tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0061032 biolink:NamedThing visceral serous pericardium development The progression of the visceral serous pericardium from its formation to the mature structure. The visceral serous pericardium is the inner layer of the pericardium. tmpxe7fu0cj_hp_relaxed.owl epicardium development dph 2010-02-09T09:52:49Z biological_process owl:Class CHEBI:32964 biolink:NamedThing ornithinate tmpxe7fu0cj_hp_relaxed.owl ornithinate|ornithine anion|2,5-diaminopentanoate -1 C5H11N2O2 InChI=1S/C5H12N2O2/c6-3-1-2-4(7)5(8)9/h4H,1-3,6-7H2,(H,8,9)/p-1 AHLPHDHHMVZTML-UHFFFAOYSA-M 131.15312 131.08260 NCCCC(N)C([O-])=O Gmelin:1242186 CHEBI:19370|CHEBI:11448 chebi_ontology owl:Class N71a82c1840c442d9bcfea710864f91b9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:606565 biolink:NamedThing N-benzoylglycinate An alpha-amino-acid anion that is the conjugate base of N-benzoylglycine; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl (benzoylamino)acetate|hippurate|2-benzamidoacetate|N-benzoylglycinate anion|N-benzoylglycinate(1-)|N-benzoylglycine -1 C9H8NO3 InChI=1S/C9H9NO3/c11-8(12)6-10-9(13)7-4-2-1-3-5-7/h1-5H,6H2,(H,10,13)(H,11,12)/p-1 QIAFMBKCNZACKA-UHFFFAOYSA-M 178.16470 178.05097 [O-]C(=O)CNC(=O)c1ccccc1 Beilstein:3610359|MetaCyc:CPD-425|Reaxys:3610359|Gmelin:329632|PMID:22153801 CHEBI:24594 chebi_ontology owl:Class GO:0045616 biolink:NamedThing regulation of keratinocyte differentiation Any process that modulates the frequency, rate or extent of keratinocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Nd56fa85bf72c4c8cb12da511c3d44f2d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001746 biolink:NamedThing Asplenia Absence (aplasia) of the spleen. tmpxe7fu0cj_hp_relaxed.owl Absent spleen SNOMEDCT_US:93030006|Fyler:4771|SNOMEDCT_US:702624008|UMLS:C0600031|SNOMEDCT_US:707147002 human_phenotype owl:Class N1fa143d313eb4cfe93a7843fd0c32728 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1e7de04a62fa46c09caa03bafc7c0218 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na0ac27a0bf4a49eb98f80eccbcbf8951 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N782578e2aebd4b0198752b21cdc12717 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001857 biolink:NamedThing concave A shape quality in a bearer by virtue of the bearer's curving inward. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class CL:0000561 biolink:NamedThing amacrine cell Interneuron of the vertebrate retina. They integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer. They lack large axons. tmpxe7fu0cj_hp_relaxed.owl amacrine neuron BTO:0004044|FBbt:00005127|FMA:67766 Not clear if this term overlaps with retinal bipolar neuron (CL:0000748). cell owl:Class UBERON:0002482 biolink:NamedThing lamellar bone Bone tissue that has a regular parallel alignment of collagen into sheets (lamellae) and is mechanically strong. tmpxe7fu0cj_hp_relaxed.owl galen:LamellarBone|EMAPA:37625|FMA:224806|MA:0002781 histological classification, lamellar vs woven. Note that only FMA has woven uberon owl:Class N834a9fbbb9e846d5813d52eebffab278 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9b55056f89e8447e93f31bce23ffbfdf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500163 biolink:NamedThing Hypoornithinemia An abnormal decrease in ornithine in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased blood ornithine concentrations|Low blood ornithine levels 2018-10-12 13:25:49+00:00 owl:Class Nc825999220e84ad68352ab9484b04ec6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N439ae00343fb460aa653e4ccc1ab2394 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N412fd70a903d464e90d593a117280c98 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N03cbb4c28116483f9acfcf4996ca0bad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013699 biolink:NamedThing strand of axillary hair A strand of hair that is part of a axilla. tmpxe7fu0cj_hp_relaxed.owl axillary hair|hair of axilla|axilla hair FMA:54253 uberon owl:Class UBERON:0010076 biolink:NamedThing network of trabecular spaces in bone tissue Tissue cavity consisting of intercommunicating trabecular spaces in the cancellous bone. tmpxe7fu0cj_hp_relaxed.owl trabecular space network|trabecular network of bone tissue FMA:259332 uberon owl:Class HP:0009597 biolink:NamedThing Short proximal phalanx of the 2nd finger Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger. tmpxe7fu0cj_hp_relaxed.owl Short proximal phalanx of the second finger|Hypoplastic/small proximal phalanx of the 2nd finger|Short proximal index finger phalanx UMLS:C4021430 doelkens 2009-01-29T10:19:36Z HP:0004124 human_phenotype owl:Class N13c198f8abb0467c976333883980b5a9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100107 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022314 doelkens 2010-06-24T10:04:20Z human_phenotype owl:Class Ne82b1ebce89a49089a025445287655eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb7d6ee0de0d646ad9c83d9535a34da8b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N695ef810cbcb43728d51a691198c69ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndf9fc0c4261d4c69bb093693c139471e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100409 biolink:NamedThing Complete duplication of the distal phalanx of the 5th toe Complete duplication of the distal phalanx of little toe. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the outermost bone of the pinky toe|Complete duplication of the distal phalanx of the fifth toe|Complete duplication of the outermost bone of the pinkie toe|Complete duplication of the outermost bone of the little toe UMLS:C4020988 human_phenotype owl:Class Nec4e4391df6649489302dd40b90de92b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002428 biolink:NamedThing double-positive blast A double-positive thymocyte that is large (i.e. has a high forward scatter signal in flow cytometry) and is actively proliferating. tmpxe7fu0cj_hp_relaxed.owl activated double-positive thymocyte|T.DPb.Th tmeehan 2010-10-21T01:59:11Z cell owl:Class CL:0002427 biolink:NamedThing resting double-positive thymocyte A double-positive, alpha-beta thymocyte that is small and not proliferating. tmpxe7fu0cj_hp_relaxed.owl T.DP.sm.Th tmeehan 2010-10-21T01:59:06Z cell owl:Class UBERON:0005234 biolink:NamedThing optic eminence ectoderm An ectoderm that is part of a optic eminence [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:16539|VHOG:0001105|EHDAA:940|RETIRED_EHDAA2:0001309 uberon owl:Class PATO:0000413 biolink:NamedThing square A shape quality inhering in a bearer by virtue of the bearer's having an equal-sided rectangular form. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class Ncc65531ea12843c5aa6a8b2112da50f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010131 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the innermost bone of the big toe UMLS:C4024028 doelkens 2009-05-29T01:22:23Z human_phenotype owl:Class Nccb6adce6bbb4bd08ffb2b495af772aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N41ad3c4e51c34fb8b5efa98de523191a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500202 biolink:NamedThing Abnormal CSF arginine concentration Any deviation from the normal concentration of arginine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal arginine levels in cerebrospinal fluid 2019-02-25 17:12:23+00:00 owl:Class N236e5468f06a480286846505730b838a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:75769 biolink:NamedThing B vitamin Any member of the group of eight water-soluble vitamins originally thought to be a single compound (vitamin B) that play important roles in cell metabolism. The group comprises of vitamin B1, B2, B3, B5, B6, B7, B9, and B12 (Around 20 other compounds were once thought to be B vitamins but are no longer classified as such). tmpxe7fu0cj_hp_relaxed.owl B-group vitamins|B-group vitamin|vitamin B|B vitamins PMID:23690582|PMID:23462586|MetaCyc:B-vitamins|PMID:23093174|PMID:23449527|PMID:23238962|PMID:22743781|Wikipedia:B_vitamin chebi_ontology owl:Class Nf5f66739198f4d3aabeec932d3b24c06 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:46913 biolink:NamedThing ornithinium(2+) tmpxe7fu0cj_hp_relaxed.owl ornithine dication|ornithinium(2+)|ornithinediium|1-carboxybutane-1,4-diaminium +2 C5H14N2O2 InChI=1S/C5H12N2O2/c6-3-1-2-4(7)5(8)9/h4H,1-3,6-7H2,(H,8,9)/p+2 AHLPHDHHMVZTML-UHFFFAOYSA-P 134.17694 134.10443 [NH3+]CCCC([NH3+])C(O)=O chebi_ontology owl:Class HP:0002579 biolink:NamedThing Gastrointestinal dysmotility Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. tmpxe7fu0cj_hp_relaxed.owl GI dysmotility UMLS:C1836923 human_phenotype owl:Class Ncfd8d809ed904228900ec4ff1e47704f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002057 biolink:NamedThing phrenic artery An artery that supplies the diaphragm. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37108|NCIT:C33320|MA:0002019|FMA:69330|UMLS:C1181536 uberon owl:Class In humans this includes the superior and inferior phrenic arteries HP:0010417 biolink:NamedThing Osteolytic defects of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023839 doelkens 2009-07-16T12:44:41Z human_phenotype owl:Class Ndbe2ba967fab4a99877a87821925778a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N73b4cb4be5cd499087051c786fff2b7a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003835 biolink:NamedThing Shoulder subluxation A partial dislocation of the shoulder joint. tmpxe7fu0cj_hp_relaxed.owl Partial shoulder dislocation UMLS:C0434744|SNOMEDCT_US:263051004 human_phenotype owl:Class N2459671db83547c4b1a0c80ef81ecd2b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:33234 biolink:NamedThing vitamin E Any member of a group of fat-soluble chromanols that exhibit biological activity against vitamin E deficiency. The vitamers in this class consists of a chroman-6-ol core which is substituted at position 2 by a methyl group and (also at position 2) either a saturated or a triply-unsaturated hydrocarbon chain consisting of three isoprenoid units. The major function of vitamin E is to act as a natural antioxidant by scavenging free radicals and molecular oxygen. tmpxe7fu0cj_hp_relaxed.owl vitamins E|vitamin E vitamer|vitamin E|vitamin E vitamers|vitamin-E PMID:33896432|PMID:33684201|PMID:34278890|MetaCyc:Vitamin-E|Wikipedia:Vitamin_E|PMID:34277234|PMID:7901680|PMID:33847203|PMID:7898412 chebi_ontology owl:Class GO:1905216 biolink:NamedThing positive regulation of RNA binding Any process that activates or increases the frequency, rate or extent of RNA binding. tmpxe7fu0cj_hp_relaxed.owl upregulation of RNA binding|activation of RNA binding|up-regulation of RNA binding|up regulation of RNA binding bf 2016-06-06T10:21:12Z biological_process owl:Class CHEBI:76956 biolink:NamedThing Aspergillus metabolite Any fungal metabolite produced during a metabolic reaction in the mould, Aspergillus. tmpxe7fu0cj_hp_relaxed.owl Aspergillus metabolites CHEBI:75864|CHEBI:76958 chebi_ontology owl:Class UBERON:0005185 biolink:NamedThing renal medulla collecting duct The portion of the collecting duct that resides in the renal medulla. tmpxe7fu0cj_hp_relaxed.owl kidney medulla collecting duct|medullary collecting duct EMAPA:28061|BTO:0004536|MA:0002935|EMAPA:35459 uberon owl:Class N27654977b1c24b378b12f93ca1b89fa6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N235438477c3c498b8816b0af8c9cf062 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2ba33d2d16cf431db8eb7850c1902e71 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8c0b5127d37b4c69af7179a1403d2835 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nad8fe8e7e40f45f4afcb66a390fcc292 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100119 biolink:NamedThing Small epiphysis of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Small end part of the middle bone of the 2nd toe UMLS:C4022302 doelkens 2010-06-24T10:05:37Z human_phenotype owl:Class Nc3ad9671e8494ef5aefaa47b17db2d15 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N422804aa72224c01bfda81fa58881e35 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009694 biolink:NamedThing Small thumb epiphysis Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of thumb long bone|Small epiphyses of the thumb UMLS:C4021402 doelkens 2009-01-30T09:20:16Z human_phenotype owl:Class Ncacc41356d23445b89a13e0042b6163d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0045087 biolink:NamedThing innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. tmpxe7fu0cj_hp_relaxed.owl nonspecific immune response|innate immunity Wikipedia:Innate_immune_system GO:0002226 biological_process owl:Class GO:0000741 biolink:NamedThing karyogamy The creation of a single nucleus from multiple nuclei as a result of fusing the lipid bilayers that surround each nuclei. tmpxe7fu0cj_hp_relaxed.owl nuclear fusion during karyogamy|nuclear fusion Wikipedia:Karyogamy GO:0007335 biological_process owl:Class HP:0008363 biolink:NamedThing Aplasia/Hypoplasia of the tarsal bones Absence or underdevelopment of the tarsal bones. tmpxe7fu0cj_hp_relaxed.owl Aplastic/hypoplastic tarsals|Absent/small ankle bone|Absent/underdeveloped ankle bone UMLS:C1848671 peter 2008-04-04T11:35:00Z HP:0008109 human_phenotype owl:Class N5fc0413fcba543648d8f0b84ea3d839c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011388 biolink:NamedThing Enlarged cochlear aqueduct Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular. tmpxe7fu0cj_hp_relaxed.owl Dilated cochlear aqueduct UMLS:C4021154 The cochlear aqueduct surrounds the perilymphatic (periotic duct). Enlargement of the cochlear aqueduct may be seen in POU3F4 X-linked deafness with Gusher. peter 2012-03-09T07:41:47Z human_phenotype owl:Class N63410f1358c54f0da590f2eb8eee7350 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010851 biolink:NamedThing fibula cartilage element A cartilaginous condensation that has the potential to develop into a fibula. tmpxe7fu0cj_hp_relaxed.owl fibulra cartilage condensation|fibulal cartilage condensation|fibular cartilage condensation EMAPA:18154 uberon owl:Class UBERON:0001875 biolink:NamedThing globus pallidus Subcortical nucleus, functionally part of the basal ganglia, which consists of two segments the external (or lateral) and internal (or medial) separated by the medial medullary lamina in primates. In rodents, The globus pallidus lateral is separated from the medial segment by the fibers of the internal capsule/cerebral peduncle. tmpxe7fu0cj_hp_relaxed.owl pallidium|paleostriatum|nucleus pallidus|pale body|pallidum|globus pallidus (Burdach) EV:0100188|NCIT:C12449|UMLS:C0017651|EFO:0000905|DHBA:10342|BIRNLEX:1234|HBA:4293|MA:0000890|BAMS:GP|PBA:10097|EMAPA:35380|MESH:A08.186.211.730.885.105.487.397|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=231|BTO:0002246|MAT:0000510|CALOHA:TS-2013|GAID:668|FMA:61835 BTO and MA are inconsistent w.r.t striatum and pallidum being non-overlapping as in ABA. Note that we have pallidum as part_of basal gangion, so we can make the direct link to basal ganglion. ISBN:1588900649 says: ... a derivative of the diencephalon, seperates as a result of growing fibers of theinternal capsule and is finally displaced into telencephalon. only a small medial remnannt remains, the entopeduncular nucleus. The globus pallidus should be regarded as part of the subthalamus Brain:structure.gif uberon owl:Class Nucleus of brain which is located medially to the putamen and laterally to the internal capsule[FMA][FMA:61835]. pallidal Nb889fabfdd444d238546b9942e3bf9f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008303 biolink:NamedThing Olivary degeneration Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024707 human_phenotype owl:Class Nb4ffa50c3b224615a6c89faf96dcc6f3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010314 biolink:NamedThing Premature thelarche Premature development of the breasts. tmpxe7fu0cj_hp_relaxed.owl Premature breast development SNOMEDCT_US:102889008|UMLS:C0425772 peter 2009-07-12T02:36:24Z human_phenotype owl:Class Ne9a03e0bda09469cacc43234f31a42fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001972 biolink:NamedThing submucosa of esophagus A submucosa that is part of a esophagus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl submucosa of gullet|tela submucosa of esophagus|submucosa of oesophagus|tela submucosa oesophageae|gullet submucosa|tela submucosa oesophagi|tela submucosa esophagi|submucous layer of esophagus|submucosa of esophagus|tela submucosa (oesophagus)|oesophagus submucosa|esophageal submucosa|esophagus submucosa BTO:0002109|FMA:62997|EMAPA:35325|MA:0002724|SCTID:362128009 uberon owl:Class UBERON:0009503 biolink:NamedThing mesenchyme of hindgut Mesenchyme that is part of a developing hindgut. tmpxe7fu0cj_hp_relaxed.owl hindgut associated mesenchyme EMAPA:16716|EHDAA2:0000780 uberon owl:Class Nefb7e6a648834bf29ba71a9f204f6368 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004369 biolink:NamedThing Decreased circulating purine concentration Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. tmpxe7fu0cj_hp_relaxed.owl Decreased purine levels|Decreased purine level UMLS:C4025331 peter 2008-03-18T06:32:00Z owl:Class N5c2be5d97e224128a0953de40022879b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nac36a089853a413093e5cf98b5a6f778 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4ba58cfd52c1431093ab1f23bef1ae9f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N624d1ef9197d427994b90cc809db9d90 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006709 biolink:NamedThing Aplasia/Hypoplasia of the nipples tmpxe7fu0cj_hp_relaxed.owl Absent/small nipples|Nipples absent or rudimentary|Absent/underdeveloped nipples|Absent/rudimentary nipples UMLS:C3150086 peter 2008-03-29T03:51:00Z HP:0006602|HP:0006669 human_phenotype owl:Class N508a0672fb2649aba21180d3254fce45 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nda887572b1894a87b70147e92a5b8098 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:59826 biolink:NamedThing progestin A synthetic progestogen. tmpxe7fu0cj_hp_relaxed.owl progestins Wikipedia:Progestin chebi_ontology owl:Class Ne24fbcb3716b484f95d0f7add6888ad2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0034876 biolink:NamedThing future neurohypophysis The outgrowth of neuroectoderm located on the floor of the embryonic hypothalamus that gives rise to the neurohypophysis (posterior lobe) of the pituitary gland. tmpxe7fu0cj_hp_relaxed.owl neurohypohysial region|neurohypophyseal bud EHDAA2:0004434|EMAPA:16647 EMAPA:16647 uberon owl:Class HP:0007834 biolink:NamedThing Progressive cataract A kind of cataract that progresses with age. tmpxe7fu0cj_hp_relaxed.owl Cataract, progressive UMLS:C4021566 HP:0007828 human_phenotype owl:Class N2552620e5b3c454db498b59e8cedb195 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N44aa3a5781a64860b2ee2579835bc169 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N368aa527ff9d4d51b39e3c741bf16507 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N870de333c2634cffaca8bb2feb5267cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0001659 biolink:NamedThing temperature homeostasis A homeostatic process in which an organism modulates its internal body temperature. tmpxe7fu0cj_hp_relaxed.owl thermoregulation Wikipedia:Thermoregulation biological_process owl:Class Ncdb106c2fc4e4b068daba7783a9a8f6e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N813b8f600b294a7886f3c5e733833722 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N54ba681d369f4be1826faf8ade04f3be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:33484 biolink:NamedThing chalcogen oxoacid tmpxe7fu0cj_hp_relaxed.owl chalcogen oxoacid|chalcogen oxoacids chebi_ontology owl:Class NBO:0000073 biolink:NamedThing chewing tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0001332 biolink:NamedThing prepuce of penis A retractable double-layered fold of skin and mucous membrane that covers the glans penis and protects the urinary meatus when the penis is not erect. tmpxe7fu0cj_hp_relaxed.owl penile prepuce|foreskin|praeputium|prepucium|prepuce|preputium penis|preputium|prepuce of male NCIT:C33049|CALOHA:TS-0383|EV:0100109|FMA:19639|UMLS:C0227952|EMAPA:18989|MA:0000407|BTO:0001113|EFO:0001664|OpenCyc:Mx4rvVjlTZwpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/en/thumb/c/cc/Foreskin2.jpg/200px-Foreskin2.jpg|Foreskin:CloseupV2.jpg uberon owl:Class NCBITaxon:9721 biolink:NamedThing Cetacea tmpxe7fu0cj_hp_relaxed.owl owl:Class Nf5b5b0aa940a436fbff45848cf916e4b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009450 biolink:NamedThing Broad proximal phalanx of the 3rd finger Increased width of the proximal phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Broad innermost bone of middle finger UMLS:C4024355 doelkens 2009-01-14T04:33:41Z human_phenotype owl:Class Nf5de1226147b4e059c470fc3fead4614 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001725 biolink:NamedThing cranial synchondrosis The cartilaginous joints of the skull; these include sphenoethmoidal synchondrosis, sphenooccipital synchondrosis, sphenopetrosal synchondrosis, petrooccipital synchondrosis, anterior intraoccipital synchondrosis and posterior intraoccipital synchondrosis. tmpxe7fu0cj_hp_relaxed.owl FMA:54816|MA:0001502|EMAPA:35264 uberon owl:Class GO:1902020 biolink:NamedThing negative regulation of cilium-dependent cell motility Any process that stops, prevents or reduces the frequency, rate or extent of cilium-dependent cell motility. tmpxe7fu0cj_hp_relaxed.owl inhibition of ciliary cell motility|downregulation of ciliary cell motility|negative regulation of cilium cell motility|negative regulation of ciliary cell motility|down-regulation of ciliary cell motility|down regulation of ciliary cell motility jl 2013-03-27T14:42:42Z biological_process owl:Class HP:0410188 biolink:NamedThing Decreased glucose-6-phosphate dehydrogenase level in red blood cells A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells. tmpxe7fu0cj_hp_relaxed.owl Decreased G6PD level in red blood cells|Decreased G6PD level in RBCs 2018-05-21 18:03:36+00:00 owl:Class N6af20c3b371c4b8ba0c7eab57bd17673 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003480 biolink:NamedThing vein of clitoris A vein that is part of a clitoris [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl clitoris vein EMAPA:37201|MA:0002252 uberon owl:Class N196240d97cf046faa0e8c88744291d2a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N853518c041cf4a63befee0bd8b301c96 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N445c98e626f1404baff822d10ce8aecc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500207 biolink:NamedThing Decreased CSF lysine concentration Abnormally decreased levels of lysine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Low lysine levels in cerebrospinal fluid 2019-02-25 18:31:54+00:00 owl:Class N58127703a7424844aed6b09aa14b478e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N59276c4988284e67bb2c1ebe2e917bc4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005419 biolink:NamedThing pectoral appendage bud A limb bud that develops into a forelimb or pectoral fin. tmpxe7fu0cj_hp_relaxed.owl pectoral fin bud|forelimb - pectoral fin bud|pectoral fin buds VHOG_RETIRED:0001259|EFO:0003430|ZFA:0000141|VHOG:0001754|TAO:0000141 at this time we have no need to name a more specific 'pectoral fin bud' class, but we may in future uberon owl:Class Fin bud that develops into the pectoral fin.[TAO] While the skeletons of teleost pectoral fins and tetrapod forelimbs are homologous at the level of endoskeletal radials, teleosts and tetrapods do not share homologous skeletal elements at the level of 'individuated' pro-, meso-, and metapterygia. Among osteichthyans, only basal actinopterygians retain the full complement of elements present in non-osteichthyan gnathostomes.[uncertain][VHOG] Nf81557a193664e459b2a119307e20c62 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008529 biolink:NamedThing piriformis muscle The piriformis is a muscle in the gluteal region that originates from the anterior (front) part of the sacrum, the part of the spine in the gluteal region, and from the superior margin of the greater sciatic notch (as well as the sacroiliac joint capsule and the sacrotuberous ligament). It exits the pelvis through the greater sciatic foramen to insert on the greater trochanter of the femur. Its tendon often joins with the tendons of the superior gemellus, inferior gemellus, and obturator internus muscles prior to insertion[WP,modified]. tmpxe7fu0cj_hp_relaxed.owl piriform muscle|piriformis|m.piriformis|piriformis muscle|musculus piriformis EMAPA:36239|FMA:19082 http://upload.wikimedia.org/wikipedia/commons/5/55/Posterior_Hip_Muscles_1.PNG uberon owl:Class UBERON:0006537 biolink:NamedThing female reproductive gland secretion A portion of organism substance that is secreted by a female reproductive gland. tmpxe7fu0cj_hp_relaxed.owl female reproductive system fluid/secretion|female reproductive system secretion|female reproductive system fluid MA:0002510 uberon owl:Class N943163c91920404a94e3090e6aaf44f9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncf1adccd8a694470a94fab9e2153a8f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005086 biolink:NamedThing Knee osteoarthritis tmpxe7fu0cj_hp_relaxed.owl MSH:D020370|SNOMEDCT_US:239873007|UMLS:C0409959 human_phenotype owl:Class N62c3788ee97a423398e1a246809eba9e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0018255 biolink:NamedThing jejunal artery A branch of the superior mesenteric artery that supplies the jejunum. tmpxe7fu0cj_hp_relaxed.owl jejunal branch of superior mesenteric artery FMA:14808 uberon owl:Class Nac152ae210b34a83a72551ed0378a4e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006536 biolink:NamedThing male reproductive gland secretion A portion of organism substance that is secreted by a male reproductive gland. tmpxe7fu0cj_hp_relaxed.owl male reproductive system fluid|male reproductive system fluid/secretion|male reproductive system secretion MA:0002521|EMAPA:36541 uberon owl:Class N953773f86b3444bb99ded2aaf72e8330 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007373 biolink:NamedThing inferior surface of tongue The lower (inferior) side of the tongue. tmpxe7fu0cj_hp_relaxed.owl ventral surface of tongue|ventrum linguae FMA:54648 check inferior/ventral uberon owl:Class UBERON:0012247 biolink:NamedThing cervical gland Mucus-secreting glands in the mucosa of the uterine cervix. tmpxe7fu0cj_hp_relaxed.owl glandulae cervicales NCIT:C32296|UMLS:C2724437 uberon owl:Class N626dc8a4fdc5437082131ca3b3c18929 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4729980cb0b64bc6b7b44e0cc14cb8d3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:33568 biolink:NamedThing adrenaline A catecholamine in which the aminoethyl side-chain is hydroxy-substituted at C-1 and methylated on nitrogen. tmpxe7fu0cj_hp_relaxed.owl 2-(methylamino)-1-(3,4-dihydroxyphenyl)ethanol|racepinefrine|racepinefrina|epinephrine racemic|racepinefrinum|4-[1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol|(+-)-epinephrine|dl-adrenaline|(+-)-adrenaline 0 C9H13NO3 InChI=1S/C9H13NO3/c1-10-5-9(13)6-2-3-7(11)8(12)4-6/h2-4,9-13H,5H2,1H3 UCTWMZQNUQWSLP-UHFFFAOYSA-N 183.20446 183.08954 CNCC(O)c1ccc(O)c(O)c1 LINCS:LSM-4958|PMID:24252294|PMID:24719616|Gmelin:51559|PMID:10052027|Beilstein:2212160|Reaxys:2212160|Drug_Central:4508|CAS:329-65-7 chebi_ontology owl:Class GO:0032290 biolink:NamedThing peripheral nervous system myelin formation The process in which the wraps of cell membrane that constitute myelin are laid down around an axon by Schwann cells in the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl myelin formation in peripheral nervous system https://github.com/geneontology/go-ontology/issues/19106 biological_process owl:Class UBERON:0001516 biolink:NamedThing abdominal aorta Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl descending abdominal aorta|pars abdominalis aortae|abdominal part of aorta|aorta abdominalis EFO:0002524|MA:0000474|EMAPA:17856|UMLS:C0003484|galen:AbdominalAorta|BTO:0002976|OpenCyc:Mx4rvYhWCZwpEbGdrcN5Y29ycA|FMA:3789|MESH:D001012|SCTID:244231007|NCIT:C32038|Wikipedia:Abdominal_aorta|GAID:470 http://upload.wikimedia.org/wikipedia/commons/a/af/Gray531.png Many of the branches of the abdominal aorta in mammals may be branches of the dorsal aorta in other vertebrates uberon owl:Class N9c57688068c44e07b478fc518d099386 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:2000070 biolink:NamedThing optic choroid fibroblast Any fibroblast that is part of a optic choroid. tmpxe7fu0cj_hp_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=6620 TermGenie 2014-10-07T18:50:43Z cell owl:Class N32b363a36b9341a9922188d515a49f05 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N529d591107eb436aa9e9b7c1fb26f5a2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021580 biolink:NamedThing medulla oblongata formation The process that gives rise to the medulla oblongata. This process pertains to the initial formation of a structure from unspecified parts. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate. tmpxe7fu0cj_hp_relaxed.owl myelencephalon biosynthesis|myelencephalon formation|medulla formation|medulla biosynthesis biological_process owl:Class Nb2becc1c1c124086abe87cca0209dedd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8d9d409d5fd54b119d525d0dc10dba3a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015838 biolink:NamedThing molar dental pulp tmpxe7fu0cj_hp_relaxed.owl FMA:294469|EMAPA:35576|MA:0003222 uberon owl:Class FMA has classes for very specific sublcasses but no generic grouping at this level N73ed43ab03f945309df50d2d650fd2c2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0005540 biolink:NamedThing hyaluronic acid binding Binding to hyaluronic acid, a polymer composed of repeating dimeric units of glucuronic acid and N-acetyl glucosamine. tmpxe7fu0cj_hp_relaxed.owl hyaluronan binding molecular_function owl:Class HP:0000317 biolink:NamedThing Facial myokymia Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). tmpxe7fu0cj_hp_relaxed.owl Involuntary facial contraction|Involuntary facial quivering MSH:D005155|SNOMEDCT_US:1070000|UMLS:C0270871 Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes. HP:0004651 human_phenotype owl:Class Nbf66914efa1e40d0a7d0e106ea6694da biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne45501e00676460f8827a61fe91def61 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9304e33d02c545cf80a51fb2d9c930e1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc90f6e30a6c845fa8ce8dccc4e1762d7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na4643a74a741415d8c9393a761982737 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005281 biolink:NamedThing Hypoplastic nasal bridge tmpxe7fu0cj_hp_relaxed.owl Hypoplastic bridge of nose|Decreased size of nasal bridge|Small nasal bridge|Hypotrophic nasal bridge|Hypotrophic bridge of nose|Small bridge of nose|Decreased size of bridge of nose UMLS:C1865597|UMLS:C4280494 human_phenotype owl:Class N92e8528157804709a68a6b3a4b1233c2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndfdcd687735d4b4b8e7d68fd66040916 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000072 biolink:NamedThing proximo-distal subdivision of respiratory tract An section of a respiratory tract. tmpxe7fu0cj_hp_relaxed.owl respiratory tract|subdivision of respiratory tract MA:0000434|EMAPA:16737|FMA:45660 uberon owl:Class MA:0000434 has subclasses upper and lower, so it corresponds to a segment of the tract, rather than the tract as a whole HP:0410000 biolink:NamedThing Abnormality of vomer An abnormality of the vomer. tmpxe7fu0cj_hp_relaxed.owl Abnormality of vomer bone|Defect of vomer UMLS:C4020914 owl:Class N8324c5ee173945528d3775812941cca6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410003 biolink:NamedThing Cleft maxillary alveolus Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine. tmpxe7fu0cj_hp_relaxed.owl Cleft primary palate|Alveolar cleft|Cleft alveolar process of maxilla|Cleft anterior maxilla SNOMEDCT_US:109546001|UMLS:C0432084|UMLS:C4280276 The palate develops from the frontonasal and maxillary prominences between 4 and 12 weeks of gestation. During gestational weeks 4 to 7, the primary palate originates from the median palatine process, which itself originated from frontonasal prominence. The lip, alveolus, and hard palate anterior to the incisive foramen all share this origin in development. During this period, disruptions of palatal development process can result in primary palate clefting. The secondary palate develops from the lateral palatine processes originating from the maxillary prominences between 7 and 12 weeks, and the hard palate posterior to incisive foramen and the soft palate are developmental products of this process. As such, disruptions during this time will result in secondary palate clefts. The alveolus is a component of the primary palate, and alveolar cleft results from mal-development of the frontonasal prominence. As such, it is most closely related to cleft lip and cleft palate. Generally, alveolar clefts are located between the lateral incisor and canine owl:Class N46ddc1524fa14169848b08719860b8f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb9a19d1d288646a19570f2ad17411cd0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000307 biolink:NamedThing blastula Organism at the blastula stage - an early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. tmpxe7fu0cj_hp_relaxed.owl blastosphere|blastula embryo BTO:0000128|BILA:0000059|OpenCyc:Mx4rEetFnKP2EdqAAAACs4vPlg|GAID:1294|MESH:A16.254.270.274|Wikipedia:Blastula|OGEM:000006 http://upload.wikimedia.org/wikipedia/commons/c/c6/Blastulation.png TODO - check relationship with epiblast. Note in FMA this is not a subclass of embryo, but in uberon embryo is the whole organism from zygote onwards and thus includes the blastula UBERON:0007011 uberon owl:Class UBERON:0039222 biolink:NamedThing cystic artery An artery that supplies oxygenated blood to the cystic duct. tmpxe7fu0cj_hp_relaxed.owl cholecystic artery FMA:14835 uberon owl:Class GO:0090025 biolink:NamedThing regulation of monocyte chemotaxis Any process that modulates the frequency, rate, or extent of monocyte chemotaxis. tmpxe7fu0cj_hp_relaxed.owl tb 2009-08-03T10:17:03Z biological_process owl:Class UBERON:0008331 biolink:NamedThing clitoral smooth muscle A smooth muscle tissue that is part of a clitoris. tmpxe7fu0cj_hp_relaxed.owl clitoris smooth muscle BTO:0005000 uberon owl:Class HP:0100537 biolink:NamedThing Fasciitis Inflammation of fascia, the tissue under the skin and over the muscle. tmpxe7fu0cj_hp_relaxed.owl Inflammation of the fascia SNOMEDCT_US:36948007|MSH:D005208|UMLS:C0015645 doelkens 2010-12-20T05:59:18Z human_phenotype owl:Class Nbfc38162f0634990a847ff672f2ca62f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc5221a357d3a4d94bb6df0b4093fa247 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf35518dfce6c422f95ebd0d068451226 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8de83cb487784a5f931ea10c8dce6bd5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002551 biolink:NamedThing fibroblast of dermis tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-02-28T05:05:33Z cell owl:Class Nc8e5a85afab741f2bb43c9d4adda74c9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neb11dbdcc4b74ca2a87ed4c0cb5f20e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne4234d01d87f4d418f301031ef5773a5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009353 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 3rd finger A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024416 doelkens 2009-01-12T11:19:03Z owl:Class Nfcb386c563ef48d89ff8fc6c8752c1ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0036224 biolink:NamedThing corticobulbar and corticospinal tracts The corticobulbar and corticospinal tracts combined. tmpxe7fu0cj_hp_relaxed.owl pyramidal tract uberon owl:Class CHEBI:71666 biolink:NamedThing gamma-amino acid anion An amino-acid anion in which the amino group is situated gamma- to the carboxylate group. tmpxe7fu0cj_hp_relaxed.owl gamma-amino acid anions chebi_ontology owl:Class HP:0011219 biolink:NamedThing Short face Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective). tmpxe7fu0cj_hp_relaxed.owl Decreased vertical dimension of face|Decreased length of face|Vertical hypoplasia of face|Decreased height of face|Vertical shortening of face|Vertical facial insufficiency|Vertical deficiency of face|Short facies|Short face|Vertical insufficiency of face|Vertical Facial Deficiency UMLS:C4023457 Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root to the gnathion, the inferior border of the mandible, both in the midline. Note that short face is distinct from wide face. peter 2011-12-07T09:01:18Z human_phenotype owl:Class N6a73504f0cab424bbd2c6f69ada4b629 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003430 biolink:NamedThing neck nerve A nerve that is part of a neck [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nerve of neck (volume)|neck (volume) nerve|nerve of neck MA:0000588|EMAPA:37263 uberon owl:Class CHEBI:58123 biolink:NamedThing (2S)-2-hydroxy monocarboxylic acid anion A hydroxy monocarboxylic acid anion where the hydroxy group is placed at position 2 (alpha to the carboxy group) and has (S)-stereochemistry; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl (2S)-alpha-hydroxy monocarboxylic acid anions|(S)-2-hydroxyacid anion|a (2S)-2-hydroxycarboxylate|(2S)-2-hydroxycarboxylate|(S)-2-hydroxyacid anions|(2S)-2-hydroxy monocarboxylate|(2S)-2-hydroxy monocarboxylates|(2S)-2-hydroxy monocarboxylic acid anions|(2S)-alpha-hydroxy monocarboxylic acid anion -1 C2H2O3R 74.03550 74.00039 O[C@@H]([*])C([O-])=O PMID:10850983 CHEBI:61394|CHEBI:70794 chebi_ontology owl:Class N895b067017ed4dc091b5e752b6e11182 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006872 biolink:NamedThing handplate apical ectodermal ridge An apical ectodermal ridge that is part of a handplate. tmpxe7fu0cj_hp_relaxed.owl EMAPA:17247|EHDAA2:0000729 uberon owl:Class HP:0012304 biolink:NamedThing Hypoplastic aortic arch Underdevelopment of the arch of aorta. tmpxe7fu0cj_hp_relaxed.owl Aortic arch hypoplasia|Underdeveloped aortic arch SNOMEDCT_US:60787001|Fyler:2704|UMLS:C0265881 peter 2013-08-06T10:10:36Z human_phenotype owl:Class N6f82feab08dd4a899343f654d29a99de biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naf84f6726dfb4917a9aa19ee6f80d0ee biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010123 biolink:NamedThing future facial nucleus A gray matter that has the potential to develop into a facial nucleus. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004639 uberon owl:Class UBERON:0009644 biolink:NamedThing trachea non-cartilage connective tissue tmpxe7fu0cj_hp_relaxed.owl MA:0001859|EMAPA:35878 uberon owl:Class N33474c91e7a44a788385b579fd816974 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf425b6e8f63b4365a0e329b546c30441 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N290e6f1f693c4a428ce554e3cf98765c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010040 biolink:NamedThing Aplasia of the 3rd metacarpal Absence of the third long bone of the hand. tmpxe7fu0cj_hp_relaxed.owl Absent 3rd long bone of hand UMLS:C4024088 doelkens 2009-05-27T04:36:08Z human_phenotype owl:Class N591ec8405b544041b67a93650192c1df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N21262238ead04655b0548d5454e886e4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005231 biolink:NamedThing Chronic gastritis A chronic form of gastritis. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:8493009|UMLS:C0085695 owl:Class N969601b97c5c4b228f2454ca193a2b2a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:8386 biolink:NamedThing pregnane tmpxe7fu0cj_hp_relaxed.owl pregnane 0 C21H36 InChI=1S/C21H36/c1-4-15-9-11-18-17-10-8-16-7-5-6-13-20(16,2)19(17)12-14-21(15,18)3/h15-19H,4-14H2,1-3H3/t15-,16?,17-,18-,19-,20-,21+/m0/s1 JWMFYGXQPXQEEM-WZBAXQLOSA-N 288.51054 288.28170 [H][C@]1(CC)CC[C@@]2([H])[C@]3([H])CCC4([H])CCCC[C@]4(C)[C@@]3([H])CC[C@]12C LIPID_MAPS_instance:LMST02030000|Wikipedia:Pregnane chebi_ontology owl:Class UBERON:0011362 biolink:NamedThing cranial blood vasculature A blood vasculature that is part of a head. tmpxe7fu0cj_hp_relaxed.owl cranial blood vessels|set of blood vessels of head|cranial blood vessel TAO:0005297|ZFA:0005297 uberon owl:Class Blood vessel part of cranial vasculature.[TAO] N1196c3a81e08433991ffb1bdd8ba6024 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100216 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the middle bone of the pinky toe|Enlarged end part of the middle bone of the little toe|Enlarged end part of the middle bone of the pinkie toe UMLS:C4022205 doelkens 2010-06-24T05:04:00Z human_phenotype owl:Class N752a0682c75d443097e01980ec9b35df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003565 biolink:NamedThing hindbrain dura mater A dura mater that is part of a hindbrain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl dura mater of neuraxis of hindbrain|dura mater of hindbrain|rhombencephalon dura mater|hindbrain dura mater of neuraxis EMAPA:17785|VHOG:0000409|MA:0000989 uberon owl:Class Dura mater that is part of the hindbrain. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] HP:0000939 biolink:NamedThing Osteoporosis Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). tmpxe7fu0cj_hp_relaxed.owl MSH:D010024|SNOMEDCT_US:64859006|UMLS:C0029456 Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures. HP:0002774 human_phenotype owl:Class N33c9d507d7e14c45b63604e0fefcc2f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N820e748d6300409094531e7a4487d95b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N742b2f37b47f4d078d15e912a1beb174 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500247 biolink:NamedThing Abnormal CSF alpha-aminobutyrate concentration Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal alpha-aminobutyrate levels in cerebrospinal fluid 2019-02-26 15:59:10+00:00 owl:Class Nbcd3307205d94c92a010292905d972fa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2714f7f037a6402f9e140d5a9ff0707d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5b9e343b55e04bffa0d8c33f9d9aa694 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N31ec72c9596d446897a0b893bce76229 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd677ad44b4db4bda8c34ab0dd288425b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:Q14376 biolink:NamedThing UDP-glucose 4-epimerase (human) A UDP-glucose 4-epimerase that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl UDP-N-acetylglucosamine 4-epimerase (human)|GALE|UDP-N-acetylgalactosamine 4-epimerase (human)|hGALE|galactowaldenase (human)|UDP-GalNAc 4-epimerase (human)|UDP-GlcNAc 4-epimerase (human)|UDP-galactose 4-epimerase (human) Reactome:R-HSA-70362|UniProtKB:Q14376 Category=organism-gene. protein owl:Class GO:0003292 biolink:NamedThing cardiac septum cell differentiation The process in which an endocardial cushion cell becomes a cell of a cardiac septum. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-20T11:03:46Z biological_process owl:Class HP:3000013 biolink:NamedThing Abnormality of platysma An abnormality of the platysma muscle. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the platysma muscle UMLS:C4073222 vasilevs 2015-02-26T03:56:14Z human_phenotype owl:Class N74cb513bab214dc880bd0443dcb4850f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0313b8f1bace44579931bf7441d8b377 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002488 biolink:NamedThing helix of outer ear The helix is the prominent rim of the pinna. tmpxe7fu0cj_hp_relaxed.owl helix (auricula)|helix of ear|helical part of pinna|helix of pinna|helix|helix of auricle of ear MA:0002793|NCIT:C32724|OpenCyc:Mx4rwRDEk5wpEbGdrcN5Y29ycA|FMA:60992|UMLS:C0229304 uberon owl:Class GO:0099068 biolink:NamedThing postsynapse assembly The aggregation, arrangement and bonding together of a set of components to form a postsynapse. tmpxe7fu0cj_hp_relaxed.owl postsynapse biogenesis biological_process owl:Class UBERON:0009115 biolink:NamedThing thoracic thymus A mature thymus that is entirely part of thoracic region. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0035914 biolink:NamedThing skeletal muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a skeletal muscle cell, a somatic cell located in skeletal muscle. tmpxe7fu0cj_hp_relaxed.owl bf 2011-06-24T02:36:19Z biological_process owl:Class N8bf91a2952224d1486ab85771458d432 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005643 biolink:NamedThing Short 3rd toe Underdevelopment (hypoplasia) of the third toe. tmpxe7fu0cj_hp_relaxed.owl Brachydactyly of third toes|Short 3rd toe|Short third toe UMLS:C4021628 human_phenotype owl:Class N561501a5162c4cc79d7d430f0cd47600 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006042 biolink:NamedThing Y-shaped metacarpals Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly. tmpxe7fu0cj_hp_relaxed.owl Y-shaped long bone of hand UMLS:C1861373 human_phenotype owl:Class Nb8e61e8e41414c71a06f94286363fb1a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001724 biolink:NamedThing sphenoidal sinus One of the paired paranasal sinuses, located in the body of the sphenoid bone and communicating with the highest meatus of the nasal cavity on the same side[MESH]. The sphenoidal sinuses (or sphenoid) contained within the body of the sphenoid vary in size and shape; owing to the lateral displacement of the intervening septum they are rarely symmetrical. The following are their average measurements: vertical height, 2.2 cm. ; transverse breadth, 2 cm. ; antero-posterior depth, 2.2 cm. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl sphenoid sinus|sinus sphenoidalis MA:0001795|UMLS:C0037885|NCIT:C12278|MESH:D013101|GAID:359|OpenCyc:Mx4rwEIoz5wpEbGdrcN5Y29ycA|FMA:54683 http://upload.wikimedia.org/wikipedia/commons/e/e3/Gray856.png uberon owl:Class UBERON:0009639 biolink:NamedThing body of sphenoid The body of the sphenoid bone, more or less cubical in shape, is hollowed out in its interior to form two large cavities, the sphenoidal air sinuses, which are separated from each other by a septum. tmpxe7fu0cj_hp_relaxed.owl body of sphenoidal bone|corpus (os sphenoidale)|Entire body of sphenoid bone|corpus ossis sphenoidalis|sphenoid body|central body of sphenoid FMA:52867 http://upload.wikimedia.org/wikipedia/commons/d/d5/Gray146.png uberon owl:Class N95b4855fd8c2486bae953d2d9802c582 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N99859045eb4342d7ad536c1690067b57 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NBO:0000064 biolink:NamedThing regulation of drinking behavior "A feeding behavior associated with the intake or the frequency of intake or preference or manner of intake of liquids." [NBO:GVG] GO:0042756 tmpxe7fu0cj_hp_relaxed.owl drinking behaviour 2011-04-14T01:20:02Z George Gkoutos behavior_ontology owl:Class Nb8af4155efa145baa430fdbdec1c5faa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N008ae8f74c054f76aa60b6f92ea8a796 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6ece5860cceb4ba9b5641629c5d4fcc5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002138 biolink:NamedThing endothelial cell of lymphatic vessel A endothelial cell of a lymphatic vessel. The border of the oak leaf-shaped endothelial cell of initial lymphatics are joined by specialized buttons. The discontinuous feature of buttons distinguishes them from zippers in collecting lymphatics, but both types of junctions are composed of proteins typical of adherens junctions and tight junctions found in the endothelium of blood vessels. Buttons seal the sides of flaps of the oak leaf-shaped endothelial cell, leaving open the tips of flaps as routes for fluid entry without disassembly and reformation of intercellular junctions. tmpxe7fu0cj_hp_relaxed.owl lymphatic endothelial cell|LEC FMA:68458|BTO:0004167 tmeehan 2010-08-24T02:05:28Z CL:1000421 cell owl:Class N3a675483389f406098b7111b9cbe395a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd9e1490ca89048019e12ecf4709365c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010584 biolink:NamedThing pedal digit 5 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a pedal digit 5 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl hind limb digit 5 phalanx pre-cartilage condensation|foot digit 5 phalanx pre-cartilage condensation|pedal digit V phalanx pre-cartilage condensation EMAPA:17734|EHDAA2:0002061 uberon owl:Class N1a41e6830533425d8e2de35096e7d190 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009677 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the thumb A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of thumb outermost long bone|Cone-shaped terminal thumb phalanx epiphysis UMLS:C4021409 doelkens 2009-01-30T09:18:09Z HP:0004091 human_phenotype owl:Class Nf29d36378f80496fb9b8bff33f83bd7a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002528 biolink:NamedThing Granulovacuolar degeneration Electron-dense granules within double membrane-bound cytoplasmic vacuoles. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:90506004|UMLS:C0333454 Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease. owl:Class Ne347a61c693248b6a7065df39636b14c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0030900 biolink:NamedThing forebrain development The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions). tmpxe7fu0cj_hp_relaxed.owl prosencephalon development biological_process owl:Class Nd6ff4e93dc934df0a8b2661e84bd9e2c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005625 biolink:NamedThing Osteoporosis of vertebrae Osteoporosis affecting predominantly the vertebrae. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025170 human_phenotype owl:Class N565e9e26d0e04a2db45ee3a9d48ad66d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040298 biolink:NamedThing Hyperplasia of the endometrium tmpxe7fu0cj_hp_relaxed.owl Hyperplastic endometrium owl:Class Nc9f18ff1d2f64024825ee40ab4d2684c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb5138795cb7b4d52828ca2e93aeeda0b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002052 biolink:NamedThing adrenal gland capsule The thick capsule of dense irregular connective tissue that surrounds each adrenal gland and contains scattered elastic fibers; the capsule contains a rich plexus of blood vessels (mainly small arteries) and numerous nerve fibers; some blood vessels and nerves enter the substance of the gland in the trabeculae that extend inward from the capsule and then leave the trabeculae to enter the cortex. tmpxe7fu0cj_hp_relaxed.owl adrenal capsule|capsule of adrenal gland FMA:69087|NCIT:C32050|MA:0000117|UMLS:C1181304 uberon owl:Class N90663bf6ad1249f9bf38e7a8b15638d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008339 biolink:NamedThing Diaminoaciduria An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024698 owl:Class Nb6cdcd8207ec42e98a9fc39390bbc8c7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9a4179de4a6e4c558e6d76c5912755d3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N491617a4323547ce903c6d51d7010ef5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:32864 biolink:NamedThing L-prolinium An optically active form of prolinium having L-configuration. tmpxe7fu0cj_hp_relaxed.owl L-prolinium|(2S)-2-carboxypyrrolidinium|L-proline cation +1 C5H10NO2 InChI=1S/C5H9NO2/c7-5(8)4-2-1-3-6-4/h4,6H,1-3H2,(H,7,8)/p+1/t4-/m0/s1 ONIBWKKTOPOVIA-BYPYZUCNSA-O 116.13840 116.07060 OC(=O)[C@@H]1CCC[NH2+]1 Gmelin:363493 chebi_ontology owl:Class UBERON:7500040 biolink:NamedThing tip of nail The distal-most point of a cutaneous appendage. tmpxe7fu0cj_hp_relaxed.owl https://orcid.org/0000-0003-2699-3066 uberon owl:Class GO:1904936 biolink:NamedThing interneuron migration The orderly movement of an interneuron from one site to another. tmpxe7fu0cj_hp_relaxed.owl inter-neuron migration|inter neuron migration ah 2016-02-01T14:04:32Z biological_process owl:Class N5a12cafd3b6b43b2a4d68aa9e7daecb0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009166 biolink:NamedThing Fragmentation of the epiphysis of the distal phalanx of the 5th finger Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of the outermost bone of little finger|Fragmentation of end part of the outermost bone of pinky finger|Fragmentation of end part of the outermost bone of pinkie finger UMLS:C4024562 peter 2008-12-29T02:14:33Z human_phenotype owl:Class Nfc06f12cb6e646efb63c90f312241ef9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0045653 biolink:NamedThing negative regulation of megakaryocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of megakaryocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl inhibition of megakaryocyte differentiation|down-regulation of megakaryocyte differentiation|down regulation of megakaryocyte differentiation|downregulation of megakaryocyte differentiation biological_process owl:Class Nff83e4e2c3b64160828354155e12d1f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004691 biolink:NamedThing 2-3 toe syndactyly Syndactyly with fusion of toes two and three. tmpxe7fu0cj_hp_relaxed.owl Syndactyly of second and third toes|Webbed 2nd and 3rd toes|Toe syndactyly, 2-3|2-3 toes syndactyly|partial or complete syndactyly 2nd-3rd toes|2-3 toe soft tissue syndactyly|2-3 syndactyly of feet UMLS:C0432040|SNOMEDCT_US:205145001 HP:0004683|HP:0004703|HP:0004685|HP:0001846|HP:0004697|HP:0008123|HP:0008086|HP:0001856|HP:0003773 owl:Class Ndb2f91c765794faaa9c4b7b7bbdc4d21 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000323 biolink:NamedThing late embryo An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. tmpxe7fu0cj_hp_relaxed.owl fetus|embryo late growth stage|embryo late stage MESH:D005333|UMLS:C0015965|BTO:0000449|OpenCyc:Mx4rvZfC2ZwpEbGdrcN5Y29ycA|FBbt:00005333|GAID:552|EFO:0001323|CALOHA:TS-0360|NCIT:C13235|FMA:63919 TODO - check fetus/embryo. WP: An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination. In humans, it is called an embryo until about eight weeks after fertilization (i.e. ten weeks LMP), and from then it is instead called a fetus. uberon owl:Class Fetal structure, which is a developmental form of a vertebrate animal at any given time point from 8 weeks of gestation to birth (or hatching). Examples: There is only one fetus[FMA:63919]. Ne62a07157d9142279d134a1a1fb8dea2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002231 biolink:NamedThing Sparse body hair Sparseness of the body hair. tmpxe7fu0cj_hp_relaxed.owl Sparse to absent body hair|Little body hair|Sparse body hair|Limited body hair UMLS:C1862863 human_phenotype owl:Class Nd67dfd7af3d743a18d59956498116480 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003836 biolink:NamedThing Stippled calcification of the shoulder tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025562 human_phenotype owl:Class N46baad1795214f899932e8fdf23e4a5b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N02c8a234af23428aa78988aca0496666 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N13b1dda8f71848b6997a5abc142f1369 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N63b5ab7456444837ac2c46ef0ff0338b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neb2939bfb2124795a9ee054c6eca9492 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000081 biolink:NamedThing Duplicated collecting system A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. tmpxe7fu0cj_hp_relaxed.owl Double urinary collecting systems on intravenous pyelography|Double collecting system|Duplex collecting system|Duplicated renal collecting system UMLS:C1858565 peter 2008-02-25T12:45:00Z human_phenotype owl:Class N83825986d6e345be86580c1aa9b956ef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015122 biolink:NamedThing anatomical line between outer canthi An anatomical line of the face that connects the two outer (lateral) canthi of the eye. The length of this line is known as the outer canthal distance. tmpxe7fu0cj_hp_relaxed.owl inter lateral canthal line|inter outer canthal line uberon owl:Class HP:0007779 biolink:NamedThing Anterior segment of eye aplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1853234 human_phenotype owl:Class N3e89d112fd0e4689866f7ebeadc3cfe2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004240 biolink:NamedThing gall bladder smooth muscle A portion of smooth muscle tissue that is part of a gallbladder [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl non-striated muscle of gallbladder|gallbladder smooth muscle tissue|biliary smooth muscle|gall bladder involuntary muscle|non-striated muscle of gall bladder|smooth muscle tissue of gallbladder|smooth muscle tissue of gall bladder|smooth muscle of gall bladder|gallbladder involuntary muscle|gall bladder smooth muscle tissue|gall bladder non-striated muscle|smooth muscle of gallbladder|involuntary muscle of gall bladder|gallbladder smooth muscle|involuntary muscle of gallbladder|gallbladder non-striated muscle EMAPA:35373|MA:0001635|NCIT:C49483|UMLS:C1708179 uberon owl:Class HP:0009328 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 3rd finger A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl Pseudoepiphyses of middle phalanx of middle-finger UMLS:C4021491 doelkens 2009-01-12T11:15:44Z HP:0004176 human_phenotype owl:Class Ncb832c1405fb430cb7579f6d5c3fd04c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2d8ccc01bdd7482f8c190e88e03846a1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100178 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the outermost bone of the 4th toe UMLS:C4022243 doelkens 2010-06-24T04:53:36Z human_phenotype owl:Class N752ebfc6a7a8478698f4114e76e85733 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N22987a50c9004ec3bfd7c1e76d0b610c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004414 biolink:NamedThing Abnormality of the pulmonary artery An abnormality of the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl Abnormality of lung artery UMLS:C0009681|SNOMEDCT_US:198914002|SNOMEDCT_US:36110001|SNOMEDCT_US:128588008 peter 2008-03-18T09:28:00Z owl:Class Ne30a71704a98411bb2f471bdc6dd6163 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne46c45c2ca784157ba81739800577243 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007096 biolink:NamedThing Hypoplasia of the optic tract tmpxe7fu0cj_hp_relaxed.owl Underdeveloped optic tract UMLS:C1856654 human_phenotype owl:Class N06e4b882c8a34a34b3d6382c4730f84e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N83f17a8e65214071ac8e09a8c57e36f9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003244 biolink:NamedThing Penile hypospadias Location of the urethral opening on the inferior aspect of the penis. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:204888000|UMLS:C1691215 human_phenotype owl:Class N3d0af0ddd94f46878e96a4d48f5e7f15 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002431 biolink:NamedThing CD4-positive, CD8-intermediate double-positive thymocyte A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD8 co-receptor. tmpxe7fu0cj_hp_relaxed.owl T.4int8+.th tmeehan 2010-10-21T02:29:23Z cell owl:Class N320c2ff6e236446ebaf03053593efaa0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N332aa6b6c07f423c9578a86ef03857d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neb3c5aa9e89c45618219c2477c57724f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9a872d2af6854bb9bfd7bdbc74c5a46a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007537 biolink:NamedThing Severe photosensitivity A severe degree of photosensitivity of the skin. tmpxe7fu0cj_hp_relaxed.owl Severe sun sensitivity UMLS:C1849186 human_phenotype owl:Class N8fb0a81686c54d44b37ddabfc98e0e58 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009098 biolink:NamedThing gravid uterus The uterus in pregnancy. tmpxe7fu0cj_hp_relaxed.owl womb NCIT:C12406|ncithesaurus:Gravid_Uterus|UMLS:C1514389 uberon owl:Class UBERON:0007354 biolink:NamedThing cartilage of pharyngotympanic tube A triangular plate of elastic fibrocartilage that forms the cartilage component of the pharyngotympanic tube. tmpxe7fu0cj_hp_relaxed.owl cartilago tubae auditivae|cartilago tubae auditivae; cartilago tubae auditoriae|pharyngotympanic tube cartilage|cartilage of auditory tube|cartilage of eustachian tube|cartilago tubae auditoriae FMA:60096 http://upload.wikimedia.org/wikipedia/commons/b/b9/Gray915.png uberon owl:Class UBERON:0016400 biolink:NamedThing infrapatellar fat pad The infrapatellar fat pad, also known as Hoffa's fat pad, is a cylindrical piece of fat that is situated under and behind the patella bone within the knee. tmpxe7fu0cj_hp_relaxed.owl FMA:58772 uberon owl:Class Nb1551d5e310542318244ece6c9e53b18 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:8410042 biolink:NamedThing arteriole of lymph node An arteriole that is part of a lymph node. tmpxe7fu0cj_hp_relaxed.owl lymph node arteriole http://orcid.org/0000-0002-2825-0621 uberon owl:Class N88dfef4a225641f58cdeafcece2475ec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N63ebfb50845c4b83b778e798f01d8344 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1467b9a8b39740a6bab6e8e1b05f4515 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N75e86fafe2794aa18c01e74755af6279 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001602 biolink:NamedThing medial rectus extraocular muscle The medial rectus muscle is a muscle in the orbit. As with most of the muscles of the orbit, it is innervated by the inferior division of the oculomotor nerve (Cranial Nerve III). This muscle shares an origin with several other extrinsic eye muscles, the anulus tendineus, or common tendon. It is the largest of the extraocular muscles and its only action is adduction of the eyeball. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl medial recti|medial rectus extraocular muscle|musculus rectus medialis|medial rectus muscle|medial rectus|musculus rectus medialis bulbi|m. rectus medialis NCIT:C33068|MA:0001281|AAO:0010113|FMA:49037|UMLS:C0582820|TAO:0000301|VHOG:0001127|ZFA:0000301 Taxon notes (from VHOG): "The ability to rotate the eyeball is common to all vertebrates with well-developed eyes, regardless of the habitat in which they live, so these [extrinsic ocular] muscles tend to be conservative. They change little during the course of evolution." Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective, Third Edition (2001) Orlando Fla.: Harcourt College Publishers, p.331 [VHOG:0001127] http://upload.wikimedia.org/wikipedia/commons/e/e8/Eyemuscles.png UBERON:0004836 uberon owl:Class The ability to rotate the eyeball is common to all vertebrates with well-developed eyes, regardless of the habitat in which they live, so these [extrinsic ocular] muscles tend to be conservative. They change little during the course of evolution.[well established][VHOG] UBERON:0007500 biolink:NamedThing epithelial tube open at both ends An epithelial tube open at both ends that allows fluid flow. tmpxe7fu0cj_hp_relaxed.owl RETIRED_EHDAA2:0003116|AEO_RETIRED:0000116 uberon owl:Class UBERON:0008909 biolink:NamedThing perichordal bone Bone element that is adjacent to the notochord. tmpxe7fu0cj_hp_relaxed.owl perichordal bone|perichordal bones VSAO:0000307|TAO:0001639|AAO:0010777|ZFA:0001629 We go with the latest VSAO in making this a subtype of bone, and add a logical definition based on the textual definition in VSAO. We also include the subtyping under 'replacement bone', for consistency with ZFA uberon owl:Class Replacement bone that forms within the connective tissue surrounding the notochord.[TAO] N68e8f28a9ee24ed69b7d54f290472538 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000705 biolink:NamedThing Amelogenesis imperfecta A developmental dysplasia of the dental enamel. tmpxe7fu0cj_hp_relaxed.owl MSH:D000567|SNOMEDCT_US:78494001|UMLS:C0002452 Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations. HP:0006331|HP:0006284|HP:0006310|HP:0006327|HP:0006325 owl:Class Nc950e4a23b364667849d1d4846309713 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010975 biolink:NamedThing external oblique pre-muscle mass tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000470 uberon owl:Class Nf6ac2c7914f34825838d1aa08e1d54cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:66874 biolink:NamedThing carnosinate An N-acyl-L-alpha-amino acid anion that is the conjugate base of carnosine, obtained by deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl N(alpha)-(beta-alanyl)-L-histidinate|carnosinate anion|(2S)-2-(beta-alanylamino)-3-(1H-imidazol-4-yl)propanoate|carnosinate(1-) -1 C9H13N4O3 InChI=1S/C9H14N4O3/c10-2-1-8(14)13-7(9(15)16)3-6-4-11-5-12-6/h4-5,7H,1-3,10H2,(H,11,12)(H,13,14)(H,15,16)/p-1/t7-/m0/s1 CQOVPNPJLQNMDC-ZETCQYMHSA-M 225.22450 225.09931 NCCC(=O)N[C@@H](Cc1c[nH]cn1)C([O-])=O Reaxys:6337985 chebi_ontology owl:Class CHEBI:57485 biolink:NamedThing carnosine zwitterion Zwitterionic form of carnosine. tmpxe7fu0cj_hp_relaxed.owl (2S)-2-[(3-azaniumylpropanoyl)amino]-3-(1H-imidazol-4-yl)propanoate|N(alpha)-(beta-alaniniumyl)-L-histidinate|carnosine 0 C9H14N4O3 InChI=1S/C9H14N4O3/c10-2-1-8(14)13-7(9(15)16)3-6-4-11-5-12-6/h4-5,7H,1-3,10H2,(H,11,12)(H,13,14)(H,15,16)/t7-/m0/s1 CQOVPNPJLQNMDC-ZETCQYMHSA-N 226.23250 226.10659 [NH3+]CCC(=O)N[C@@H](Cc1c[nH]cn1)C([O-])=O MetaCyc:CARNOSINE|Gmelin:397437 chebi_ontology owl:Class N081650c0368d4b3787073ad35fcbba43 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3ddd24d68a3b4262ae680160829f6039 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015092 biolink:NamedThing distal carpal bone 3 pre-cartilage condensation A distal carpal bone 3 endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0002917 biolink:NamedThing Hypomagnesemia An abnormally decreased magnesium concentration in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood Mg levels|Low blood magnesium levels UMLS:C0151723|SNOMEDCT_US:190855004 HP:0003284 human_phenotype owl:Class N9855dd979be14695995be58ce7307ac6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:35623 biolink:NamedThing anticonvulsant A drug used to prevent seizures or reduce their severity. tmpxe7fu0cj_hp_relaxed.owl anticonvulsants|anti-convulsive agent|Antiepileptika|Antikonvulsivum|Antiepileptikum|antiepileptiques|anti-convulsants|anticonvulsive agents|Antikonvulsiva|antiepileptics|anti-convulsant|anti-convulsive agents|anticonvulsive agent|antiepileptique|antiepileptic chebi_ontology owl:Class HP:0100193 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the innermost bone of the 4th toe UMLS:C4022228 doelkens 2010-06-24T04:54:59Z human_phenotype owl:Class Nb92e3a4c00d843f887e4e4459ad40a45 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002095 biolink:NamedThing hilus cell of ovary A cell in the hilum of the ovary that produces androgens. tmpxe7fu0cj_hp_relaxed.owl hilar cell of ovary FMA:18710 tmeehan 2010-08-23T11:18:18Z cell owl:Class N2894b2992851489bab907221c8c97dd2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060125 biolink:NamedThing negative regulation of growth hormone secretion Any process that decreases or stops the frequency, rate or extent of the regulated release of growth hormone from a cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0030252 biolink:NamedThing growth hormone secretion The regulated release of growth hormone from secretory granules into the blood. tmpxe7fu0cj_hp_relaxed.owl somatotropin secretion biological_process owl:Class N15fef773755f42d4960492a6145e128f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0019264 biolink:NamedThing gray matter of forebrain tmpxe7fu0cj_hp_relaxed.owl FMA:268608|DHBA:10157 uberon owl:Class UBERON:0011972 biolink:NamedThing medial ligament of ankle joint A skeletal ligament that connects a tibia and connects a tarsal skeleton. tmpxe7fu0cj_hp_relaxed.owl ligamentum collaterale mediale (articulatio talocruralis)|ligamentum collaterale mediale articulationis talocruralis|deltoid ligament of ankle joint|ligamentum deltoideum (articulatio talocruralis)|medial collateral ligament of ankle joint|ligamentum deltoideum|deltoid collateral ligament of ankle joint FMA:44055 uberon owl:Class N49d3c9e4c3374a2fab164da00f8a7c34 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1479c218a701457da64b6d131d5ef7c3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neea3e85729e34c7aaccd7db9353052d5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nec5a102cc2e84a5e94cae72035b6546b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1b0cb1ebe34d4c71a58c1aef520a969a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005890 biolink:NamedThing Hyperostosis cranialis interna Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull. tmpxe7fu0cj_hp_relaxed.owl Increased ossification of the internal surface of the cranial bones|Hyperostosis of the internal surface of the cranial bone|Excessive growth of inner surface of the skull bones|Thick internal surface of the cranial bones|Hyperostosis of the internal surface of the cranial bones|Thick inner surface of the skull bones|Hypertrophy of the internal surface of the cranial bones|Overgrowth of the inner surface of the skull bones|Overgrowth of the inside of the skull|Enlargement of the inner surface of the skull bones UMLS:C4280470|UMLS:C4280469|UMLS:C1840404|UMLS:C4280471|UMLS:C4280472|MSH:C564168|UMLS:C4280468 human_phenotype owl:Class N36d07e9947024008ba8d1cab5dfc5952 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002061 biolink:NamedThing Lower limb spasticity Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis tmpxe7fu0cj_hp_relaxed.owl UMLS:C1271100|SNOMEDCT_US:394679006 human_phenotype owl:Class Nee298d0454c54c89b6bfa2114a4dd2fa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6a170db6d08e4d78bac2fab41a8d81ec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne72319eec2044e5197f0d8bd33d06b35 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N48219e1a7ef340d1a0bfa1d1430c0fd1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004688 biolink:NamedThing Irregular tarsal bones tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of ankle bones UMLS:C1855240 human_phenotype owl:Class N5a535b8d18b646f7ba1ab9436e6c576f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3ad0960bd1db437fb68a0abd60653793 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000807 biolink:NamedThing DN3 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. tmpxe7fu0cj_hp_relaxed.owl double negative 3|DN3 cell|TN3 cell|DN3 alpha-beta immature T lymphocyte|DN3 alpha-beta immature T-lymphocyte|TN3 thymocyte|preT.DN3.Th|early cortical thymocyte|DN3 alpha-beta immature T-cell|DN3 immature T cell There is growing evidence that molecular markers characterizing double negative thymocytes are different across species, especially in mouse versus human thymus. If in doubt, please consider using CL:0002489 'double negative thymocyte'. cell owl:Class UBERON:0003532 biolink:NamedThing hindlimb skin A zone of skin that is part of a hindlimb [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hind limb skin|skin of hindlimb|lower limb skin|skin of lower extremity|skin of lower limb|skin of hind limb MA:0000665|EMAPA:32620|NCIT:C12297|FMA:23102|UMLS:C0222268 TODO - check free limb vs pelvic complex uberon owl:Class Nfaefa3e048c849379c89c8c08999c3d6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0005584 biolink:NamedThing collagen type I trimer tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0001813 biolink:NamedThing spinal nerve plexus An intermingling of fiber fascicles from adjacent spinal nerves to form a network. tmpxe7fu0cj_hp_relaxed.owl somatic nerve plexus|plexus nervorum spinalium|plexus of spinal nerves|spinal nerve plexus NCIT:C49601|FMA:5903|UMLS:C0228603|EHDAA2:0001899|EMAPA:16987|VHOG:0000925|MA:0000235 uberon owl:Class To reach the muscles, dermatomes, and other structures of the limbs, some of the neurons in the spinal nerves come together in the plexus at the base of the limb. Such plexuses occur in all gnathostomes, and they reach their highest complexity among mammals and birds in which the cervical plexus supplies many ventral neck muscles, the brachial plexus supplies the pectoral appendage, a lumbosacral plexus supplies the pelvic appendage, and a coccygeal plexus supplies some of the pelvic muscles.[well established][VHOG] HP:0006449 biolink:NamedThing Distal radial epiphyseal osteolysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850145 human_phenotype owl:Class N94f12adc93b547e99d2050d6ded0f21a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb931272e65304d95b67e9c7a6561cc1f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:23004 biolink:NamedThing carbamoyl group The univalent carboacyl group formed by loss of -OH from the carboxy group of carbamic acid. tmpxe7fu0cj_hp_relaxed.owl carbamyl|-C(O)NH2|carbamyl group|-CONH2|carbamoyl|carboxamide|aminocarbonyl 0 CH2NO 44.03272 44.01364 *C(N)=O PMID:24168430 chebi_ontology owl:Class GO:0021638 biolink:NamedThing trigeminal nerve formation The process that gives rise to the trigeminal nerve. This process pertains to the initial formation of a structure from unspecified parts. The trigeminal nerve is composed of three large branches. They are the ophthalmic (V1, sensory), maxillary (V2, sensory) and mandibular (V3, motor and sensory) branches. The sensory ophthalmic branch travels through the superior orbital fissure and passes through the orbit to reach the skin of the forehead and top of the head. The maxillary nerve contains sensory branches that reach the pterygopalatine fossa via the inferior orbital fissure (face, cheek and upper teeth) and pterygopalatine canal (soft and hard palate, nasal cavity and pharynx). The motor part of the mandibular branch is distributed to the muscles of mastication, the mylohyoid muscle and the anterior belly of the digastric. The mandibular nerve also innervates the tensor veli palatini and tensor tympani muscles. The sensory part of the mandibular nerve is composed of branches that carry general sensory information from the mucous membranes of the mouth and cheek, anterior two-thirds of the tongue, lower teeth, skin of the lower jaw, side of the head and scalp and meninges of the anterior and middle cranial fossae. tmpxe7fu0cj_hp_relaxed.owl CN V formation|CN V biosynthesis biological_process owl:Class UBERON:0004620 biolink:NamedThing lumbar vertebra 4 The fourth lumbar vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl L4 vertebra|fourth lumbar vertebra MA:0001431|NCIT:C32902|UMLS:C0223537|EMAPA:19572|FMA:13075 elements are to be defined spatially/topologically uberon owl:Class N68e750e12d504e49b2e7984dba0ba4ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100353 biolink:NamedThing Contracture of the distal interphalangeal joint of the 3rd toe The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022132 human_phenotype owl:Class Nf4692ae9dced43e1a0454c6ce67f4951 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4b99a32defd843d28c8b4cdb857e0215 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005000 biolink:NamedThing mucosa of common bile duct A mucosa that is part of a common bile duct [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl common bile duct mucosa|ductus choledochus (biliaris) mucosa of organ|mucosa of organ of ductus choledochus (biliaris)|common bile ductal mucosa|common bile duct mucosa of organ|common bile duct mucous membrane|mucosa of ductus choledochus (biliaris)|mucous membrane of ductus choledochus (biliaris)|organ mucosa of common bile duct|ductus choledochus (biliaris) mucosa|organ mucosa of ductus choledochus (biliaris)|mucosa of organ of common bile duct|ductus choledochus (biliaris) mucous membrane|mucous membrane of common bile duct|common bile duct organ mucosa|ductus choledochus (biliaris) organ mucosa FMA:14688 uberon owl:Class CL:0000559 biolink:NamedThing promonocyte A precursor in the monocytic series, being a cell intermediate in development between the monoblast and monocyte. This cell is CD11b-positive and has fine azurophil granules. tmpxe7fu0cj_hp_relaxed.owl BTO:0004657|FMA:83551 Morphology: Mononuclear cell, diameter 14-18 _M, fine azurophilic granules; markers: CD11b (shared with many other myeloid cells); location: Adult: bone marrow; Fetal: Liver, Yolk Sac; role or process: hematopoiesis, monocyte development; lineage: hematopoietic, myeloid. cell owl:Class UBERON:0004339 biolink:NamedThing vault of skull Upper part of skull, consisting of parietals, frontals, post-parietals, and in some species the squamosal and a portion of the alisphenoid. tmpxe7fu0cj_hp_relaxed.owl cranial vault|skullcap|skull roof|calvaria|calvarium|calva|skull vault FMA:52800|VHOG:0000331|EHDAA:9538|UMLS:C0205950|NCIT:C81188|EHDAA2:0002167|ZFA:0005606|EMAPA:18016 Terminology notes. we include calvarium as a synonym, but Gray's Anatomy's list includes the Ethmoid and Sphenoid bone in the Calvaria. Some books (and HPO) state that calvaria consists of just the frontal bone, parietal bone, temporal bone, and occipital bone. Note vault may not be precisely equivalent to calvaria We follow http://www.ncbi.nlm.nih.gov/pubmed/11523816 (Morriss-Kay) in definingenumerating the components of the skull vault. Note that there is a conflict with Kardong; e.g. in fig 7.10, Kardong places the squamosal in the temporal series. We cannot place the vault as entirely part of the dermatocranium as it has a small splanchnocranium contribution and a sclerotomal contribution uberon owl:Class The earliest tetrapods arose from rhipidistian ancestors and retained many of their skull features, including most of the bones of the dermatocranium.[well established][VHOG] Nb8d846d05a844d6c9b480fe504e6a521 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N719d621e6dd544c0af5220958bb51d92 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6841b8d8490540deb18bbea9f28017df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0061854 biolink:NamedThing positive regulation of neuroblast migration Any process that activates or increases the frequency, rate or extent of neuroblast migration. tmpxe7fu0cj_hp_relaxed.owl dph 2017-03-08T18:22:30Z biological_process owl:Class N3b0c6df253494db8bad3afde6ff54d72 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008239 biolink:NamedThing Adrenal medullary hypoplasia Developmental hypoplasia of the adrenal medulla. tmpxe7fu0cj_hp_relaxed.owl Small adrenal medulla UMLS:C4024717 human_phenotype owl:Class N56dd438ccc294cc081c824f510d51f43 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N418e3efb998f45d7bea5dd6d8eaeaf25 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004984 biolink:NamedThing mucosa of seminal vesicle A mucosa that is part of a seminal vesicle [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl seminal vesicle mucosa of organ|seminal gland mucous membrane|tunica mucosa glandulae vesiculosae|organ mucosa of seminal gland|seminal vesicle mucosa|mucous membrane of seminal vesicle|organ mucosa of seminal vesicle|mucous membrane of seminal gland|mucosa of seminal gland|mucosa of organ of seminal vesicle|seminal vesicle mucous membrane|mucosa of organ of seminal gland|seminal gland mucosa|seminal gland organ mucosa|seminal vesicle organ mucosa|seminal gland mucosa of organ FMA:19405 uberon owl:Class UBERON:0010427 biolink:NamedThing ciliary processes The ciliary processes are formed by the inward folding of the various layers of the choroid, i.e. , the choroid proper and the lamina basalis, and are received between corresponding foldings of the suspensory ligament of the lens. tmpxe7fu0cj_hp_relaxed.owl set of ciliary processes|ciliary processes set|ciliary process|processus ciliares|ciliary processes FMA:76551|Wikipedia:Ciliary_processes|SCTID:280860001 http://upload.wikimedia.org/wikipedia/commons/b/b2/Gray875.png uberon owl:Class HP:0002561 biolink:NamedThing Absent nipple Congenital failure to develop, and absence of, the nipple. tmpxe7fu0cj_hp_relaxed.owl Athelia|Absent nipples|Absent nipple SNOMEDCT_US:248820000|UMLS:C0425795 This finding can be unilateral or bilateral. human_phenotype owl:Class N8505fbdc562a4b339de184ddaa6abed6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0010659 biolink:NamedThing cardiac muscle cell apoptotic process A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle a cardiac muscle cell and result in its death. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. tmpxe7fu0cj_hp_relaxed.owl cardiac muscle cell apoptosis biological_process owl:Class N6dcfb57f7fe94626bdc763c942882a6c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005306 biolink:NamedThing Capillary hemangioma The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces. tmpxe7fu0cj_hp_relaxed.owl Capillary hemangioma|Strawberry birthmark UMLS:C0206733|SNOMEDCT_US:56975005|SNOMEDCT_US:195382003|SNOMEDCT_US:402867006|SNOMEDCT_US:254206003|SNOMEDCT_US:83343001|MSH:D018324 human_phenotype owl:Class Nb7a7f0896f814b5f811608e57f275132 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9a6ce02930394311ae4b2fee2ca56d5c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0abbd7127ad546f5906b4c2097ef8de5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd6ffb4b1e8314fdf85549547b0d9b377 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0f9a1ecd9b9948a382127473982506a5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3f2fc1b15faf4b4e954d177e72a277fb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncebe50054c404c9e9982990ee05e3945 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004614 biolink:NamedThing mammalian cervical vertebra 5 The fifth of the seven cervical vertebrae[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl fifth cervical vertebra|cervical vertebra 5|C5 vertebra EMAPA:19435|FMA:12523|UMLS:C0459943|NCIT:C32243|MA:0001425 elements are to be defined spatially/topologically. all mammals have 7 cervical vertebrae uberon owl:Class 5 N77ec4db7f1bd48ffa83105d448565057 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N092280f12f5c416e86dc3eb2a6e1733e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003526 biolink:NamedThing respiratory system capillary A capillary that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl apparatus respiratorius capillary vessel|capillary vessel of apparatus respiratorius|capillary vessel of respiratory system|respiratory system capillary vessel|blood capillary of apparatus respiratorius|apparatus respiratorius capillary|apparatus respiratorius blood capillary|capillary of respiratory system|respiratory system blood capillary|capillary of apparatus respiratorius|blood capillary of respiratory system EMAPA:37574|MA:0001807 uberon owl:Class N2de160e052764902af154b2ae190a438 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Necf0ea81ba5146368e7ed85de897984f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:2000290 biolink:NamedThing regulation of myotome development Any process that modulates the frequency, rate or extent of myotome development. tmpxe7fu0cj_hp_relaxed.owl mah 2010-12-20T10:22:05Z biological_process owl:Class N8760159bb79f491592d93ed07687731f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncd27759fe08f47c696886234d2a1150e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9a4bb079283646018e695ab76c27e1b8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0001021 biolink:NamedThing CD34-positive, CD38-positive common lymphoid progenitor A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive. tmpxe7fu0cj_hp_relaxed.owl CD10-positive common lymphocyte precursor|CD10-positive common lymphocyte progenitor|CD10-positive common lymphoid precursor These markers are associated with human common lymphoid progenitors. Originally described in the dendritic cell ontology (DC_CL:0000032)(PMID:19243617). cell owl:Class PR:000001408 biolink:NamedThing ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 An ADP-ribosyl cyclase that is a translation product of the human CD38 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl 2'-phospho-cyclic-ADP-ribose transferase|cyclic ADP-ribose hydrolase 1|ADP-ribosyl cyclase 1|I-19|2'-phospho-ADP-ribosyl cyclase|ADPRC 1|NIM-R5 antigen|2'-phospho-ADP-ribosyl cyclase/2'-phospho-cyclic-ADP-ribose transferase|CD38|cADPr hydrolase 1|T10 IUPHARobj:2766 Category=gene. Requested by=CL. protein owl:Class CHEBI:17612 biolink:NamedThing (3,4-dihydroxyphenyl)acetate A dihydroxy monocarboxylic acid anion that is the conjugate base of (3,4-dihydroxyphenyl)acetic acid, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl 3,4-dihydroxyphenylacetate|homoprotocatechuate|(3,4-dihydroxyphenyl)acetate -1 C8H7O4 InChI=1S/C8H8O4/c9-6-2-1-5(3-7(6)10)4-8(11)12/h1-3,9-10H,4H2,(H,11,12)/p-1 CFFZDZCDUFSOFZ-UHFFFAOYSA-M 167.13878 167.03498 Oc1ccc(CC([O-])=O)cc1O UM-BBD_compID:c0272|KEGG:C01161 CHEBI:11697|CHEBI:11696|CHEBI:19889 chebi_ontology owl:Class UBERON:0005652 biolink:NamedThing pedal digit 5 epithelium An epithelium that is part of a pedal digit 5. tmpxe7fu0cj_hp_relaxed.owl pedal digit V epithelium|foot digit 5 epithelium|hind limb digit 5 epithelium EMAPA:17473|EHDAA2:0002058 uberon owl:Class Nd323cf2776694e038713c24a61aa8782 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf8e867fa55384b478747892073791564 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000255 biolink:NamedThing Acute sinusitis An acute form of sinusitis. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:15805002|UMLS:C0149512 human_phenotype owl:Class Nde20f22b45ec4ecfad49382df0fb89bd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000566 biolink:NamedThing angioblastic mesenchymal cell A mesenchymal stem cell capable of developing into blood vessel endothelium. tmpxe7fu0cj_hp_relaxed.owl chondroplast|angioblast These cells are reportedly CD31-positive, CD34-positive, CD144-positive, CD309-positive, and TAL1-positive. cell owl:Class N10bad771ba9c4ce78763cf4b299504c3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N71eee083dae94b5dbf7757d9f2e86724 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:32612 biolink:NamedThing isoleucinate tmpxe7fu0cj_hp_relaxed.owl isoleucine anion|rel-(2R,3R)-2-amino-3-methylpentanoate|ile(-)|isoleucinate Gmelin:101585 chebi_ontology owl:Class CHEBI:24898 biolink:NamedThing isoleucine A 2-amino-3-methylpentanoic acid having either (2R,3R)- or (2S,3S)-configuration. tmpxe7fu0cj_hp_relaxed.owl isoleucine|rel-(2R,3R)-2-amino-3-methylpentanoic acid|Hile 0 C6H13NO2 131.175 131.09463 Reaxys:1721790|PMID:17190852|CAS:443-79-8|Beilstein:1721790 chebi_ontology owl:Class GO:0001743 biolink:NamedThing lens placode formation The initial developmental process that will lead to the formation of an eye. tmpxe7fu0cj_hp_relaxed.owl optic placode formation biological_process owl:Class Nae73c1fa698246f182ea7751a85409a3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004404 biolink:NamedThing distal epiphysis of humerus A distal epiphysis that is part of a humerus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lower end of humerus|distal end of humerus FMA:32826 uberon owl:Class HP:0010516 biolink:NamedThing Thymus hyperplasia Enlargement of the thymus. tmpxe7fu0cj_hp_relaxed.owl Enlarged thymus|Thymic hyperplasia UMLS:C0040115|MSH:D013952 peter 2009-09-19T04:23:10Z human_phenotype owl:Class N5bae4527278a48bbab14e6d0557d08f4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6a712237e8134c44b5a14f4efd258f3a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010448 biolink:NamedThing Colonic atresia A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon. tmpxe7fu0cj_hp_relaxed.owl Atresia of the large intestine|Large intestinal atresia SNOMEDCT_US:37054000|MSH:C562562|UMLS:C0266190 peter 2009-09-14T10:23:09Z human_phenotype owl:Class Nbad7cd0f38ad4106b056431984f78c15 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5a4697cfc7fd4ee4b30010a1290a5308 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002319 biolink:NamedThing mesangium The inner layer of the glomerulus, within the basement membrane surrounding the glomerular capillaries. tmpxe7fu0cj_hp_relaxed.owl EMAPA:36561|UMLS:C0017655|MA:0002617|EMAPA:28248|NCIT:C33101|FMA:84139|BTO:0002494 uberon owl:Class mesangial WP considers this the same as glomerular mesangium. In MA, glomerular and extraglomerular are distingsuished. FMA class has no definition and is a type of stroma, which is inconsistent with our classification of this here. UBERON:0002236 biolink:NamedThing costal cartilage The nonvascular, resilient, flexible hyaline connective tissue that connects the end of a true rib to the sternum or the end of a false rib with the with the lower border of the costal cartilage above it. tmpxe7fu0cj_hp_relaxed.owl cartilago costalis|cartilagines costales|sternal cartilage BTO:0001721|NCIT:C32391|FMA:7591|OpenCyc:Mx4rwP1g3pwpEbGdrcN5Y29ycA|UMLS:C0222787|MA:0000106|EMAPA:35262 http://upload.wikimedia.org/wikipedia/commons/c/cc/Gray315.png we currently model this as part of the rib, is this correct? uberon owl:Class Nd46bcaa63e794e83b71bbf55b4b4b15b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1904305 biolink:NamedThing negative regulation of gastro-intestinal system smooth muscle contraction Any process that stops, prevents or reduces the frequency, rate or extent of gastro-intestinal system smooth muscle contraction. tmpxe7fu0cj_hp_relaxed.owl down regulation of gastro-intestinal system smooth muscle contraction|downregulation of gastro-intestinal system smooth muscle contraction|down-regulation of gastro-intestinal system smooth muscle contraction|inhibition of gastro-intestinal system smooth muscle contraction sl 2015-06-09T23:18:48Z biological_process owl:Class CHEBI:43254 biolink:NamedThing (4S)-4-hydroxy-3,4-dihydropyrimidin-2(1H)-one tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class N929159ab53e14db6801344eb0ea2b561 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100646 biolink:NamedThing Thyroiditis Inflammation of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Thyroid gland inflammation MSH:D013966|UMLS:C0040147|SNOMEDCT_US:82119001 doelkens 2010-12-29T06:08:32Z human_phenotype owl:Class N27623209d45f4678bc2ca0e1fbd91f80 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006563 biolink:NamedThing tunica media of pulmonary trunk Tunica media of artery which is continuous with the myocardium of right ventricle.[FMA]. tmpxe7fu0cj_hp_relaxed.owl FMA:85030 uberon owl:Class N904fd10e3ca94014bc13afa4049d29bc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na4dac2527caa4daebf3285f95d0f1153 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004036 biolink:NamedThing Long styloid process of ulna tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025426 human_phenotype owl:Class Nf801f0a836f04b3cb332c21ebab3e741 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001222 biolink:NamedThing Spatulate thumbs Spoon-shaped, broad thumbs. tmpxe7fu0cj_hp_relaxed.owl Spoon shaped thumbs UMLS:C0241395 human_phenotype owl:Class Nd41371fe7b024741ae3029faa5802ece biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035102 biolink:NamedThing transverse process of caudal vertebra A transverse process that is part of a caudal vertebra. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0013503 biolink:NamedThing caudal vertebra cartilage element A caudal vertebra endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl tail vertebral cartilage condensation|coccygeal vertebral cartilage condensation group|coccygeal vertebra cartilage element EMAPA:18044|EHDAA2:0000260 UBERON:0013517 uberon owl:Class UBERON:0010354 biolink:NamedThing Reichert's cartilage pre-cartilage condensation tmpxe7fu0cj_hp_relaxed.owl future Reichert's cartilage|hyoid cartilage pre-cartilage condensation EMAPA:17351 uberon owl:Class N5bf8b9b1794c41f2975b3f635db9b04c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3fe2c77cc3d84146ab49bf35ec7364a4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040215 biolink:NamedThing Abnormal circulating insulin level An abnormal concentration of insulin in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073161 owl:Class N8d94785c5caf466e8a8fcd479243ea9c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9fbfd4a12a6246ccaf7edcd1bf62387f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N880fda91af33434e8494814882dfc062 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7d060b3a4af540d1b160d3665838049c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na892722ad4404c8c846f7599f6b6f8e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf5c88c72302c4a07a6d18b5178981b76 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0dc043723ef2455680d52ed591c10d8e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2ea519f9545046aaa3fea4a8036cdd17 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012478 biolink:NamedThing cloacal gland A gland that is part of a cloaca. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class N1f5ddc5197f545219300e6e85db9ab6d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N222f96a0a9c7464faa9174a6828d1c9d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011391 biolink:NamedThing perineal nerve A nerve arising from the pudendal nerve that supplies the perineum. tmpxe7fu0cj_hp_relaxed.owl perineal branch of pudendal nerve FMA:21866 uberon owl:Class UBERON:0007280 biolink:NamedThing presumptive endocardium A presumptive structure that has the potential to develop into a endocardium. tmpxe7fu0cj_hp_relaxed.owl TAO:0002233|ZFA:0001724 uberon owl:Class Portion of tissue that is part of the heart tube and will become the endocardium.[TAO] GO:0006006 biolink:NamedThing glucose metabolic process The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. tmpxe7fu0cj_hp_relaxed.owl glucose metabolism|cellular glucose metabolic process biological_process owl:Class UBERON:0004983 biolink:NamedThing mucosa of vagina A mucosa that is part of a vagina [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl vaginal mucosa|mucous membrane of vagina|tunica mucosa vaginae|organ mucosa of vagina|vagina mucosa of organ|vagina organ mucosa|mucosa of organ of vagina|vagina mucosa|vagina mucous membrane FMA:19975|BTO:0005676 uberon owl:Class UBERON:0013158 biolink:NamedThing foregut-midgut junction gland A gland that is part of a foregut-midgut junction. tmpxe7fu0cj_hp_relaxed.owl gland of foregut-midgut junction EMAPA:17065|EHDAA2:0000574 uberon owl:Class Nca2d8942ce974c688a3b728882624574 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3c3be6449bb94e37ab77a6ef03589190 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007177 biolink:NamedThing lamina propria of mucosa of colon A lamina propria that is part of a colonic mucosa. tmpxe7fu0cj_hp_relaxed.owl lamina propria of colonic mucosa|lamina propria of colonic mucous membrane|lamina propria mucosae of colon|colonic lamina propria FMA:15657|EMAPA:27395|MA:0003196 uberon owl:Class Nc05ce275e8f64a48a8ac33efce720300 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010938 biolink:NamedThing muscle belly tmpxe7fu0cj_hp_relaxed.owl venter|belly of muscle|belly STID:29823001|FMA:9719 uberon owl:Class GO:0010822 biolink:NamedThing positive regulation of mitochondrion organization Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. tmpxe7fu0cj_hp_relaxed.owl positive regulation of mitochondrion organisation biological_process owl:Class N8c9117f2b8924dd599ddc9969b4a2ef3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008076 biolink:NamedThing Osteoporotic tarsals Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1836872 human_phenotype owl:Class Ndb174d71cced4ee7b526c049f6adbb35 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040158 biolink:NamedThing Short intermamillary distance tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022411 HPO:skoehler owl:Class N26992c139d644684bd7412663c0c1597 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nda51500013f842a8a2cf2c4d7b40e0e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1904320 biolink:NamedThing positive regulation of smooth muscle contraction involved in micturition Any process that activates or increases the frequency, rate or extent of smooth muscle contraction involved in micturition. tmpxe7fu0cj_hp_relaxed.owl up-regulation of smooth muscle contraction involved in micturition|upregulation of urinary bladder smooth muscle contraction involved in micturition|up regulation of urinary bladder smooth muscle contraction involved in micturition|positive regulation of urinary bladder smooth muscle contraction involved in micturition|activation of urinary bladder smooth muscle contraction involved in micturition|activation of smooth muscle contraction involved in urination|upregulation of smooth muscle contraction involved in micturition|activation of smooth muscle contraction involved in micturition|up regulation of smooth muscle contraction involved in micturition|upregulation of smooth muscle contraction involved in urination|positive regulation of smooth muscle contraction involved in urination|up-regulation of urinary bladder smooth muscle contraction involved in micturition|up-regulation of smooth muscle contraction involved in urination|up regulation of smooth muscle contraction involved in urination sl 2015-06-10T18:46:23Z biological_process owl:Class UBERON:0003395 biolink:NamedThing mesentery of rectum A mesentery that is part of a rectum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl rectum mesentery EMAPA:18664 uberon owl:Class HP:0030684 biolink:NamedThing Abnormal adiponectin level A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073126 Lower circulating adiponectin levels is associated with obesity and negatively correlated with insulin resistance. Adiponectin may exert antidiabetic, anti-atherogenic and anti-inflammatory activities in metabolic diseases. owl:Class N92c2cc30c8384d92a264f18e1992586a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0045054 biolink:NamedThing Brachial plexus neuropathy tmpxe7fu0cj_hp_relaxed.owl MSH:D020516|UMLS:C0700251|SNOMEDCT_US:3548001 Related to ticket: https://github.com/obophenotype/human-phenotype-ontology/issues/484 HPO:skoehler owl:Class N1fa9b0e6101b41cdbf0a710ae1ae818a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3293e889ad9549dea1fdb2920a34bb7c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na8497073a6b44c05a76c7fea6d94b6ba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf828582d531c41a290bc59912e51df3b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0097476 biolink:NamedThing spinal cord motor neuron migration The orderly movement of a spinal cord motor neuron from one site to another. A spinal cord motor neuron is a motor neuron that passes from the spinal cord toward or to a muscle and conducts an impulse that causes movement. tmpxe7fu0cj_hp_relaxed.owl pr 2013-04-23T13:03:46Z biological_process owl:Class Na55d3f4b89c4434fae7e4677226d65af biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne5bfcd7dd5be48fa848dff4cef3a2a25 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N71e67bcae5ab44a7b156f2bf06e4ba7d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N95e8c3d6c2034e7b9e20a8ca839a85f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:32845 biolink:NamedThing serinate An alpha-amino-acid anion that is the conjugate base of serine. tmpxe7fu0cj_hp_relaxed.owl 2-amino-3-hydroxypropanoate|serine anion|serinate -1 C3H6NO3 InChI=1S/C3H7NO3/c4-2(1-5)3(6)7/h2,5H,1,4H2,(H,6,7)/p-1 MTCFGRXMJLQNBG-UHFFFAOYSA-M 104.08468 104.03532 NC(CO)C([O-])=O Gmelin:324692 chebi_ontology owl:Class GO:0060916 biolink:NamedThing mesenchymal cell proliferation involved in lung development The multiplication or reproduction of cells, resulting in the expansion of a mesenchymal cell population that contributes to the progression of the lung over time. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. tmpxe7fu0cj_hp_relaxed.owl dph 2009-09-18T11:50:17Z biological_process owl:Class HP:0009835 biolink:NamedThing Aplasia/Hypoplasia of the distal phalanges of the hand Absence or underdevelopment of the distal phalanges. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic/aplastic distal phalanges|Absent/small outermost finger bone of the hand|Hypoplastic to absent terminal phalanges|Absent/hypoplastic distal phalanges|Hypoplastic/aplastic distal phalanx|Absent/underdeveloped outermost finger bone of the hand|Aplasia/Hypoplasia of the distal phalanges|Aplastic/hypoplastic distal phalanges|Small or absent distal phalanges UMLS:C1861336 doelkens 2009-03-11T12:10:11Z HP:0006037|HP:0006066|HP:0005635|HP:0006235 human_phenotype owl:Class N7b800d77a07c48d0a52e0c28a4b93691 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0031311 biolink:NamedThing Middle cerebral artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery. tmpxe7fu0cj_hp_relaxed.owl 2017-08-26 21:36:18+00:00 peter owl:Class Ndcdfed0c8f88466a85dea10238d42f16 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:62643 biolink:NamedThing anionic phospholipid Any organophosphate oxoanion that is a negatively charged phospholipid, e.g. phosphatidylserine(1-), phosphatidate(2-), phosphatidylglycerol(1-). tmpxe7fu0cj_hp_relaxed.owl anionic phospholipids|phospholipid anions|phospholipid anion chebi_ontology owl:Class N05552df2e13a4def8d675562882679f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nae57ce96d6da40ee904ec0c37fbdf554 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0004994 biolink:NamedThing somatostatin receptor activity Combining with somatostatin to initiate a change in cell activity. Somatostatin is a peptide hormone that regulates the endocrine system by signaling via G protein-coupled somatostatin receptors. Somatostatin has two active forms produced by proteolytic cleavage: a 14 amino acid peptide (SST-14) and a 28 amino acid peptide (SST-28). tmpxe7fu0cj_hp_relaxed.owl SRIF receptor activity|somatotrophin release inhibiting factor receptor activity|SST receptor activity|GHIH receptor activity|growth hormone-inhibiting hormone receptor activity molecular_function owl:Class UBERON:0002610 biolink:NamedThing cochlear nuclear complex The cochlear nuclei consist of: (a) the dorsal cochlear nucleus, corresponding to the tuberculum acusticum on the dorso-lateral surface of the inferior peduncle; and (b) the ventral or accessory cochlear nucleus, placed between the two divisions of the nerve, on the ventral aspect of the inferior peduncle. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl cochlear nuclei|nuclei cochleares DHBA:12437|EV:0100260|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=720|UMLS:C0152411|MBA:607|BAMS:CN|FMA:72240|BIRNLEX:1151|BM:Me-Co|HBA:9528 http://upload.wikimedia.org/wikipedia/commons/5/52/Gray691.png uberon owl:Class WP says 'The CN is located at the dorso-lateral side of the brainstem, spanning the junction of the pons and medulla.'. MA places this in pons, other sources the medulla GO:0036334 biolink:NamedThing epidermal stem cell homeostasis Any biological process involved in the maintenance of the steady-state number of epidermal stem cells within a population of cells. tmpxe7fu0cj_hp_relaxed.owl bf 2012-09-05T10:21:23Z biological_process owl:Class UBERON:0003557 biolink:NamedThing midbrain arachnoid mater An arachnoid mater that is part of a midbrain [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl midbrain arachnoid|arachnoid mater of midbrain|mesencephalon arachnoid mater|arachnoid of midbrain|midbrain arachnoid mater of neuraxis|arachnoid mater of neuraxis of midbrain VHOG:0000233|MA:0001059|EMAPA:17792 uberon owl:Class Arachnoid mater that is part of the midbrain. [Bgee_curator][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] N26cedd4f60d6443bbf3b5d5d8506b687 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003015 biolink:NamedThing heart process A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. tmpxe7fu0cj_hp_relaxed.owl cardiac process biological_process owl:Class HP:0009634 biolink:NamedThing Patchy sclerosis of the proximal phalanx of the thumb An uneven increase in bone density of the proximal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the innermost thumb bone UMLS:C4024264 doelkens 2009-01-29T05:09:41Z human_phenotype owl:Class N3f137da7d2f1478e8160af135bb2c5f4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001639 biolink:NamedThing hepatic portal vein A portal vein that transports nutrients from the digestive tract to the liver[Kardong]. tmpxe7fu0cj_hp_relaxed.owl vena portae hepatis|portal vein of liver|hepatic portal tree|primary hepatic portal veins|liver portal vein|primary hepatic portal vein|HPV|portal vein ZFA:0005090|FMA:50735|VHOG:0000642|MA:0002132|AAO:0010214|TAO:0005090 http://upload.wikimedia.org/wikipedia/commons/3/33/Gray591.png uberon owl:Class Adults of all vertebrates lose the vitelline veins and establish a single large hepatic portal vein (...) by the selective retention of parts of the left and right subintestinals and of several anastomoses that occur between them within and just posterior to the liver.[well established][VHOG] In humans A vein in the abdominal cavity that drains blood from the gastrointestinal tract and spleen. It is usually formed by the confluence of the superior mesenteric and splenic veins, and also receives blood from the inferior mesenteric, gastric, and cystic veins. The hepatic portal vein is a major component of the hepatic portal system, one of the main portal venous systems in the body. Conditions involving the hepatic portal vein cause considerable illness and death. An important example of such a condition is elevated blood pressure in the hepatic portal vein. This condition, called portal hypertension, is a major complication of cirrhosis worldwide. [WP,unvetted] Nbd418a6a9b734a4bb068bc0654f1ffef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne4d8bf27ad8442a28c738e6ced088c67 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011745 biolink:NamedThing pulmonary valve leaflets A cardiac valve leaflet that is part of a pulmonary valve. tmpxe7fu0cj_hp_relaxed.owl VHOG:0000820|EMAPA:18629 uberon owl:Class Extensive conservation of valve developmental mechanisms also has been observed among vertebrate species including chicken, mouse, and human.[uncertain][VHOG] UBERON:0007652 biolink:NamedThing esophageal sphincter A sphincter that is part of an esophagus. tmpxe7fu0cj_hp_relaxed.owl check for specific subtypes across species. Note mammals have upper and lower, but lower is really part of cardia and thus is not classified under here uberon owl:Class HP:0009261 biolink:NamedThing Absent epiphysis of the proximal phalanx of the 4th finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Absent end part of the innermost bone of the ring finger UMLS:C4024487 doelkens 2009-01-07T12:12:59Z human_phenotype owl:Class Ndbb12dd15a554bfda81cf3ae99c3700e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N34691cca12204c42bd87d8c487dfe776 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003403 biolink:NamedThing skin of forearm A zone of skin that is part of a lower arm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl skin of antebrachial region|lower arm skin|skin of zeugopod of arm|forearm skin|skin of lower arm|lower segment of arm skin|skin of lower segment of arm FMA:38265|MA:0000602|EMAPA:18056 uberon owl:Class N540c2be67fc7464e837a0e56ed9c06f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007925 biolink:NamedThing Lacrimal duct aplasia A congenital defect resulting in absence of the lacrimal duct. tmpxe7fu0cj_hp_relaxed.owl Absent tear duct UMLS:C4024773 human_phenotype owl:Class N0453bf841e2f48a3a29b5ca5c0aee9ae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc73cb935b6aa42f9a0c95343dbf83c27 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N120af90ea25848ce92bde60ebd4e9118 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000023 biolink:NamedThing oocyte A female germ cell that has entered meiosis. tmpxe7fu0cj_hp_relaxed.owl oogonium CALOHA:TS-0711|BTO:0000964|FMA:18644|FBbt:00004886|WBbt:0006797 cell owl:Class N35001f85a03b42f28067f18dbac6ee0e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N940a074f16d849c0a2bfac4a66d8a183 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5ad878eb527140f0b4fdf91e602cd137 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc96abe84cf324ffa936d938d600f4f24 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4a334264625c460a99f996f604f07b03 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003665 biolink:NamedThing Amyotrophy of the musculature of the pelvis Muscular atrophy affecting the muscles of the pelvis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025581 peter 2008-04-07T10:57:00Z human_phenotype owl:Class N95914eb81e0348c38877951693842200 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N85d57dc2fabb4dedbc4bd18b0b9ff296 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003189 biolink:NamedThing Long nose Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. tmpxe7fu0cj_hp_relaxed.owl Long nose|Increased nasal height|Nasal elongation|Elongated nose|Increased height of nose|Increased length of nose|Increased nasal length UMLS:C1839798 HP:0200142|HP:0005283 human_phenotype owl:Class N88ec0e51cda2435e98d67c47afef2ab8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncd92f5a77a744b1fa13feafc4a469276 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf1d40312f6594400a3c0d92982d1d420 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne06451714e194a3b9209d0b73ceccc74 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6aab353b445c4b0195ed39454e89d723 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0010959 biolink:NamedThing regulation of metal ion transport Any process that modulates the frequency, rate, or extent of metal ion transport. Metal ion transport is the directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl tb 2009-05-06T11:40:55Z biological_process owl:Class GO:0030001 biolink:NamedThing metal ion transport The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl heavy metal ion transport|divalent metal ion transport GO:0070838 biological_process owl:Class GO:1904942 biolink:NamedThing regulation of cardiac ventricle formation Any process that modulates the frequency, rate or extent of cardiac ventricle formation. tmpxe7fu0cj_hp_relaxed.owl bc 2016-02-02T16:37:16Z biological_process owl:Class Nd4d6b097c0fe4aa88682546de82f9111 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:8410043 biolink:NamedThing bronchus submucosal gland A submucosal gland located in a bronchus. tmpxe7fu0cj_hp_relaxed.owl submucosal bronchial gland|airway submucosal gland|submucosal bronchus gland|bronchial submucosal gland EFO:0010666 http://orcid.org/0000-0002-2825-0621 uberon owl:Class HP:0012040 biolink:NamedThing Corneal stromal edema Abnormal accumulation of fluid and swelling of the stroma of cornea. tmpxe7fu0cj_hp_relaxed.owl Corneal stromal oedema UMLS:C0474444|SNOMEDCT_US:373430008 peter 2012-07-27T02:19:25Z human_phenotype owl:Class N0029e7113b614c789a2ed5ec4211ca21 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na8b68f53132c4bf193825b6906d60b43 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0030155 biolink:NamedThing regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl cell adhesion receptor regulator activity biological_process owl:Class GO:0061344 biolink:NamedThing regulation of cell adhesion involved in heart morphogenesis Any process that modulates the extent of cell adhesion contributing to the shaping of the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2010-09-29T11:35:27Z biological_process owl:Class N9e64720e8b604433bc219ab5a3137eba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9df0065ffd3f4840a8d89a6a44bb11ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100387 biolink:NamedThing Aplasia of the middle phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Absent middle toe bones UMLS:C4022107 doelkens 2010-11-11T04:55:30Z human_phenotype owl:Class N37dd2ca9019546ad9ab358661dddab54 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na6cb4a52a1fc496786220a73043cae68 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009679 biolink:NamedThing set of lower jaw teeth A tooth row that is part of a skeleton of lower jaw. tmpxe7fu0cj_hp_relaxed.owl lower jaw teeth|set of all lower teeth|lower dental arcade|arcus dentalis inferior|mandibular dental arcade FMA:55635|EHDAA2:0001029 uberon owl:Class GO:1904988 biolink:NamedThing negative regulation of endothelial cell activation Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell activation. tmpxe7fu0cj_hp_relaxed.owl downregulation of endothelial cell activation|down regulation of endothelial cell activation|down-regulation of endothelial cell activation|inhibition of endothelial cell activation bc 2016-02-29T16:16:18Z biological_process owl:Class HP:0009277 biolink:NamedThing Contracture of the metacarpophalangeal joint of the 4th finger Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024475 doelkens 2009-01-07T04:10:39Z human_phenotype owl:Class Nde787535dcc445aca4cfdbadab43d492 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003534 biolink:NamedThing Reduced xanthine dehydrogenase level An abnormal reduction in xanthine dehydrogenase level. tmpxe7fu0cj_hp_relaxed.owl Xanthine dehydrogenase deficiency UMLS:C4025600|MSH:C562584|SNOMEDCT_US:72682008|SNOMEDCT_US:124147007|UMLS:C0268118 This enzyme is on the purine degradation pathway and catalzyes the reaction xanthine + NAD+ + H2O = urate + NADH + H+. human_phenotype owl:Class N03f3b788b6154a86af8355d3af86c5ef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5842d9cf55754ecea37da307f9beba0a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N58909dd99c1c4a2f86210acd21a908e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015228 biolink:NamedThing circulatory organ A hollow, muscular organ, which, by contracting rhythmically, contributes to the circulation of lymph, blood or analogs. Examples: a chambered vertebrate heart; the tubular peristaltic heart of ascidians; the dorsal vessel of an insect; the lymoh heart of a reptile. tmpxe7fu0cj_hp_relaxed.owl cardiac structure|heart or heart like organ|heart|circulatory vessel|cardiac pump SPD:0000130 uberon owl:Class Nfb70dd4fb4c54a4c96be5806d84cfd34 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nefa13e34f3124771bf8a031c6d7fadcc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N908ee40725b549269456396e093760f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2d895aca05094800bea0aa8a9a4408f2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1e566ae529544d02a9bb46431585f57a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne449a4861c564ea3b8b2c4a98af0f11b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001988 biolink:NamedThing Recurrent hypoglycemia Recurrent episodes of decreased concentration of glucose in the blood. tmpxe7fu0cj_hp_relaxed.owl hypoglycemia, recurrent|Hypoglycemic episodes|Recurrent low blood sugar levels|hypoglycaemia, recurrent|Recurrent hypoglycaemia|Recurrent hypoglycemic episodes UMLS:C1846288 human_phenotype owl:Class N7875e8b9d00140d887ae0035797dab3b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N94e3aee14b944a1dbe66ead20273e7f7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003857 biolink:NamedThing upper eyelid mesenchyme Mesenchyme that is part of a developing upper eyelid [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl superior eyelid mesenchyme|mesenchyme of upper eyelid|mesenchyme of superior eyelid EHDAA:9051|EMAPA:17836|EHDAA2:0002117|VHOG:0001093 uberon owl:Class N6423c64472f54687a027f7fb46c5cf86 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:50249 biolink:NamedThing anticoagulant An agent that prevents blood clotting. tmpxe7fu0cj_hp_relaxed.owl anticoagulante|anticoagulants chebi_ontology owl:Class UBERON:5003631 biolink:NamedThing pedal digit 1 plus metapodial segment A subdivision of the autopod consisting of pedal digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl pedal digit 1|pedal digit 1 ( phalanges plus metapodial) plus soft tissue|pedal digit 1 digitopodial subdivision|pedal digit I plus metapodial segment|pedal digit 1 ray this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class GO:0055003 biolink:NamedThing cardiac myofibril assembly The process whose specific outcome is the progression of the cardiac myofibril over time, from its formation to the mature structure. A cardiac myofibril is a myofibril specific to cardiac muscle cells. tmpxe7fu0cj_hp_relaxed.owl cardiac myofibril morphogenesis|cardiac myofibril development|heart myofibril assembly biological_process owl:Class UBERON:0004085 biolink:NamedThing labium majora One of the folds of skin which form the outer lips on both sides of the vaginal opening. tmpxe7fu0cj_hp_relaxed.owl labia majorum|labium majora|labium majus pudendi|labium majus|labium majorum UMLS:C0227760|FMA:20367|NCIT:C12306|MA:0002844|galen:LabiaMajora http://upload.wikimedia.org/wikipedia/commons/2/26/Gray1229.png uberon owl:Class HP:0100943 biolink:NamedThing Sclerosis of the proximal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the innermost bone of the big toe UMLS:C4021915 human_phenotype owl:Class Nba9ce5e3320d42b49bb0f0e4736a35eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc7307cd2daf94e40bbd67deb89f9d9c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N41fe6690d4fd4be8a149ad36d0ae72bf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2135e04264ed4f939288a0223a1f7e26 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011306 biolink:NamedThing deep part of temporalis The deep temporalis muscle is a separable part of the temporalis muscle that that attaches to the bony wall of the braincase and is deep to the superficial temporalis. tmpxe7fu0cj_hp_relaxed.owl posterior temporal|temporalis bbHauptmassebb|temporalis pars posterior|temporalis pars profunda|temporalis lamina profunda|temporalis posterior head|medial temporal|temporal muscle posterior part MFMO:0000086 uberon owl:Class Nb9ab47b4178b4094beaebcfc022d8306 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003930 biolink:NamedThing atrioventricular canal endocardium Endocardium that is part of the atrioventricular canal[ZFA,vetted]. tmpxe7fu0cj_hp_relaxed.owl AV canal endocardium|endocardium of atrioventricular canal|endocardium of AV canal|AVC endocardium XAO:0004124|TAO:0002170|ZFA:0001616 uberon owl:Class GO:0002526 biolink:NamedThing acute inflammatory response Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Nf6a1a224898d4f1ab56c6da481294f5f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1001a3ffc09d4e7f9eec6b21511aa237 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf3bd224190004abba54eed187b6a70c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008182 biolink:NamedThing Adrenocortical hypoplasia tmpxe7fu0cj_hp_relaxed.owl Small adrenal cortex UMLS:C4024719 human_phenotype owl:Class Ndbe778642fc14c4cbcac5595f7b344eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na1b78d8c33864f07878ce7ab3f0087be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6bc6a322788f410fa2b8d242a30549e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N67db0100f5334f4384c15a6c55e93bac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf3433a3796eb4132980d777649e00edf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N915f1c3ad9db462b804396e0cc31e049 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7fa46aff3d154354be992eb65c09a6bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001799 biolink:NamedThing vitreous chamber of eyeball The chamber in the eyeball enclosing the vitreous humor, bounded anteriorly by the lens and ciliary body and posteriorly by the posterior wall of the eyeball[BTO,modified]. tmpxe7fu0cj_hp_relaxed.owl camera vitrea bulbi|camera postrema bulbi oculi|vitreous chamber|postremal chamber of eyeball|camera postrema|camera vitrea|postremal chamber NCIT:C33885|EMAPA:37805|MA:0002461|FMA:58848|BTO:0002087|UMLS:C0229095 uberon owl:Class N7750fcb7755d449cbab52682fbd40a96 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500023 biolink:NamedThing Shoulder muscle aplasia Absence of shoulder muscles. tmpxe7fu0cj_hp_relaxed.owl Absent shoulder muscle 2017-05-25 16:40:00+00:00 ORCID:0000-0001-7941-2961 owl:Class Nd1c9fc5b909e4f5f8c435e92525dfc6d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010534 biolink:NamedThing primitive mesonephric nephron Anatomical cluster which give rise to mature mesonephric nephrons. Zebrafish continously generate new mesonephric nephrons. tmpxe7fu0cj_hp_relaxed.owl primitive mesonephric nephron|developing mesonephric nephron ZFA:0005584 uberon owl:Class HP:0002304 biolink:NamedThing Akinesia Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:33994004|UMLS:C0085623 Akinesia is a typical extrapyramidal abnormality. owl:Class Nea6990ff75664fef936a3d72899ea48d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0033641 biolink:NamedThing Aortic valve leaflet calcification Deposition of calcium salts in the leaflets (cusps) of the aortic valve. tmpxe7fu0cj_hp_relaxed.owl Aortic valve cusp calcification|Aortic cusp calcification 2021-02-03 13:39:04+00:00 peter owl:Class N66b45745f1f24a9ca8a936fe1d2fa945 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6f06b3d5d51a4d33b8a8f30fca5d8808 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N794abb25d8db4708b86c126a5511fdf9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0034940 biolink:NamedThing venous sinus cavity An enlarged chamber in the blood sinus capable of accumulating a large volume of blood. tmpxe7fu0cj_hp_relaxed.owl blood sinus cavity|blood sinus lumen ZFA:0007073 uberon owl:Class UBERON:0004441 biolink:NamedThing proximal epiphysis of proximal phalanx of manual digit 3 A proximal epiphysis that is part of a proximal phalanx of manual digit 3 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl proximal epiphysis of proximal phalanx of middle finger|base of proximal phalanx of middle finger|base of proximal phalanx of third digit of hand|basal epiphysis of proximal phalanx of middle finger|base of proximal phalanx of third finger|proximal epiphysis of proximal phalanx of manual digit III FMA:37511 uberon owl:Class HP:0000884 biolink:NamedThing Prominent sternum tmpxe7fu0cj_hp_relaxed.owl Prominent sternum|Sternal protrusion UMLS:C1846433 human_phenotype owl:Class Ncdfe8977da6d4cc787c06ab09cb85193 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N10f3a694b3be42f1ae22fb52c302e550 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0032351 biolink:NamedThing Phenylalaninuria Increased level of phenylalanine in urine. tmpxe7fu0cj_hp_relaxed.owl Increased level of phenylalanine in urine 2019-02-23 16:46:17+00:00 peter owl:Class N431f73c9c2834898bc8eddbb9c779467 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na954039357694e1c85ad9eb15b198ca5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0018246 biolink:NamedThing thyroid vein A vein that drains a thyroid gland. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18648 uberon owl:Class N3c582e28a9474807849c38b54df184fe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4b4e41ef18bc4bb78d2ea4977579d73a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N369c7bb6f2de4afd85559bf32ee09591 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naa91a9abb9ef49bc9907f1eaa8ef2e56 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012287 biolink:NamedThing Rathkes pouch epithelium An epithelial sac that is part of a Rathke's pouch. tmpxe7fu0cj_hp_relaxed.owl EMAPA:25036|EHDAA2:0001473 See https://github.com/obophenotype/uberon/issues/1305 uberon owl:Class GO:0016853 biolink:NamedThing isomerase activity Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. tmpxe7fu0cj_hp_relaxed.owl other isomerase activity Reactome:R-HSA-6787623|EC:5.-.-.- molecular_function owl:Class HP:0009326 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 3rd finger Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the middle bone of the middle finger UMLS:C4024439 doelkens 2009-01-12T11:15:44Z human_phenotype owl:Class Nb96a492fc7de4ee3822bfa4147e8f433 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004913 biolink:NamedThing hepatopancreatic ampulla A dilation of the duodenal papilla that is the opening of the juncture of the common bile duct and the main pancreatic duct. tmpxe7fu0cj_hp_relaxed.owl Vater's ampulla|papilla Vateri|ampulla Vaterii|ampulla of Vater|ampulla hepatopancreatica|biliaropancreatic ampulla|papilla duodeni major|ampulla of bile duct|ampulla biliaropancreatica galen:AmpullaOfVater|NCIT:C13011|UMLS:C0042425|ZFA:0005167|FMA:15076|TAO:0005167|MESH:A03.159.183.079.300.900|CALOHA:TS-2348|GAID:283 http://upload.wikimedia.org/wikipedia/commons/1/1e/Biliary_system_new.svg uberon owl:Class Ampulla formed by the union of the pancreatic duct and the common bile duct where they enter the intestine.[TAO] UBERON:0001887 biolink:NamedThing internal capsule of telencephalon White matter regional part of brain which is flanked by nuclear masses, consisting of both afferent and efferent fibers projecting between the cerebral cortex and the brainstem and spinal cord. It consists of three distinct parts: an anterior limb, posterior limb, and genu. (Adapted from MSH by Maryann Martone). tmpxe7fu0cj_hp_relaxed.owl internal capsule radiations|capsula interna|brain internal capsule|internal capsule UMLS:C0152341|NCIT:C13082|DHBA:10581|MA:0002748|GAID:685|DMBA:17770|BIRNLEX:1659|PBA:10102|EMAPA:35437|MESH:D020772|EMAPA:18206|FMA:61950|BAMS:ic|HBA:9263|BM:IC|MBA:6|BAMS:int http://upload.wikimedia.org/wikipedia/commons/9/91/Telencephalon-Horiconatal.jpg uberon owl:Class CL:0000214 biolink:NamedThing synovial cell A meso-epithelial cell that lies between the cartilaginous fibers in the synovial membrane of a joint and produces hyaluronic acid. tmpxe7fu0cj_hp_relaxed.owl synoviocyte|hyaluronic acid secreting cell CALOHA:TS-0995|FMA:66786|BTO:0003652 cell owl:Class HP:0000859 biolink:NamedThing Hyperaldosteronism Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. tmpxe7fu0cj_hp_relaxed.owl Increased aldosterone production|Increased aldosterone|Mineralocorticoid excess|Elevated plasma aldosterone MSH:D006929|UMLS:C0020428|SNOMEDCT_US:88213004 HP:0004318|HP:0005975 human_phenotype owl:Class Nd0128b2185e94d1dbc3ed2b9c62fadd9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011399 biolink:NamedThing Tibialis atrophy Atrophy of the tibialis muscle. tmpxe7fu0cj_hp_relaxed.owl Tibialis muscle degeneration UMLS:C4023375 peter 2012-03-12T06:15:40Z human_phenotype owl:Class N3b2aa5c29ab04fa2b7b90f112eacf2e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd6754c5d852240e9bc44c3288286cfbc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021517 biolink:NamedThing ventral spinal cord development The process whose specific outcome is the progression of the ventral region of the spinal cord over time, from its formation to the mature structure. The neurons of the ventral region of the mature spinal cord participate in motor output. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N9b948897be234811a2e3de8901b9c210 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001793 biolink:NamedThing nerve fiber layer of retina Layer of the retina formed by expansion of the fibers of the optic nerve. tmpxe7fu0cj_hp_relaxed.owl nerve fiber layer|stratum opticum of retina|stratum neurofibrum retinae|stratum neurofibrarum (retina)|optic fiber layer|neural retina nerve fibre layer|optic fiber layers|retina nerve fiber layer|stratum neurofibrarum retinae|layer of nerve fibres of retina|layer of nerve fibers of retina DMBA:15652|ZFA:0001619|XAO:0003220|FMA:58688|EMAPA:18591|TAO:0002212|VHOG:0001169|MA:0001314 UBERON:0005888 uberon owl:Class (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The outer layer of the optic cup becomes the pigment layer of the retina, whereas the inner layer differentiates into the photoreceptive cells and neuronal layers of the retina.[well established][VHOG] N27db9fab1e674660ba85580c51ef00e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc626947831994390957a9c61318fbb0c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbf639f51b6e445e9961789974ffb3952 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N96f0e883e9e442d7b927cceea29c28ea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012406 biolink:NamedThing Hypercitraturia A greater than normal concentration of citrate(3-) in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urine citrate concentration UMLS:C4021090 peter 2013-11-09T03:56:26Z human_phenotype owl:Class Na92b0ae32b024cc781b65dfdd6bc9417 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010705 biolink:NamedThing 4-5 finger syndactyly Syndactyly with fusion of fingers four and five. tmpxe7fu0cj_hp_relaxed.owl Webbed 4th-5th finger UMLS:C4023731 sdoelken 2010-03-26T05:12:44Z owl:Class N7d547f77562846deb71c4b4fe2faa3ca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100671 biolink:NamedThing Abnormal trabecular bone morphology Abnormal structure or form of trabecular bone. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of spongy bone|Abnormality of bone trabeculation UMLS:C4020957 doelkens 2010-12-30T01:30:05Z human_phenotype owl:Class Naf72b40799e247b89b4868323e1c715c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc655d7291b024c1e86f16c44828ab09e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5b4a4130694a4f6d8ec12686cbf7e0e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2992610061034fd88b014df047925530 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf344fb84a3be41ba9f6c24887585c528 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb41ddbbc5379425ab940c41842770361 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003016 biolink:NamedThing respiratory system process A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. tmpxe7fu0cj_hp_relaxed.owl respiratory gaseous exchange GO:0010802 biological_process owl:Class N739cd497d54149c69ecc0404fa46c472 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003487 biolink:NamedThing skin sebaceous gland A holocrine gland of the dermis that secretes sebum into hair follicles. tmpxe7fu0cj_hp_relaxed.owl sebaceous gland of skin|cutaneous sebaceous gland MA:0000149 uberon owl:Class UBERON:0002453 biolink:NamedThing ethmoid sinus The evaginations of the mucous membrane of the nasal cavity into the ethmoidal bony labyrinth, forming multiple small paranasal sinuses. tmpxe7fu0cj_hp_relaxed.owl ethmoidal air cell|ethmoidal bone sinus|ethmoidal sinus|cellulae ethmoidales NCIT:C12276|GAID:356|UMLS:C0015028|MESH:D005005|FMA:84115|MA:0001792 Nnh:front.svg uberon owl:Class UBERON:0007279 biolink:NamedThing presumptive atrioventricular canal A presumptive structure that has the potential to develop into a atrioventricular canal. tmpxe7fu0cj_hp_relaxed.owl future atrioventricular canal|future AV canal ZFA:0001723|TAO:0002227 uberon owl:Class Portion of tissue that is part of the heart tube and will become the atrioventricular canal.[TAO] HP:0410342 biolink:NamedThing Increased circulating heparan sulfate level An abnormal increase in the concentration of heparan sulfate in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased blood heparan sulfate concentration|Increased blood heparan sulphate concentration|Increased circulating heparan sulphate level owl:Class N4ac07f49f15d4966bc9095a002c55096 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012574 biolink:NamedThing Mesangial hypercellularity Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. tmpxe7fu0cj_hp_relaxed.owl Mesangial proliferation SNOMEDCT_US:125510009|UMLS:C0545017 See Figure 3a of PMID:32866505. peter 2014-01-16T12:43:25Z owl:Class Nf6693164301149579dcea7beaa3ec07c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0045085 biolink:NamedThing Atrophy of masseter muscle tmpxe7fu0cj_hp_relaxed.owl Masseter muscle atrophy|Atrophied masseter muscle owl:Class N9cd2659a90c146a596f85940c5ffb26a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne6c43798fe5344dea7779c86cd9e267b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N153806c328cf485593ab58a15b0e54a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd296eefa09d0426e98c44d0c2bbc82f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040036 biolink:NamedThing Onychogryposis of fingernail Thickened fingernails. tmpxe7fu0cj_hp_relaxed.owl Overgrowth and curving of fingernail UMLS:C4022477 HPO:skoehler owl:Class Nf2868669448345749550a0b3331501ed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0045027 biolink:NamedThing Abnormality of the thoracic cavity tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022394 HPO:skoehler owl:Class Nd0c8d15d316f480f81e2c79bca977d43 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf64d25909a4646c380d288e9deff8783 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N584667e803ad4f8cb63d7d30a4325728 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc03ba1b3dd6f493cb8de009d93a37423 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:1000443 biolink:NamedThing ciliary muscle cell A smooth muscle cell that is part of the ciliary body. tmpxe7fu0cj_hp_relaxed.owl smooth muscle cell of ciliary body FMA:70610 cell owl:Class Ne0b3b9d4c82f4d318f412022eccb2fe6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncd46d6762c024a7194b7cc92ed356588 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbff5a3e7f70340f89acd61fe13afe280 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N019f47922b41417ab1362eaca82387be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:000001867 biolink:NamedThing interleukin-5 receptor subunit alpha A protein that is a translation product of the human IL5RA gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl CD125|IL-5 receptor subunit alpha|IL-5R-alpha|IL5RA|CDw125|IL-5RA|IL5R|IL-5R subunit alpha IUPHARobj:1706|PIRSF:PIRSF018419 Category=gene. Requested by=CL. protein owl:Class N8499116915b747909b11391f8626198b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N79fcab95919e458a81354437fc889e16 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N361036a3178d4f5d923b965443daa93d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb9d98c720c5f41b58d9149dbdae35cc3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009010 biolink:NamedThing periurethral tissue Any portion of tissue that surrounds a urethra. tmpxe7fu0cj_hp_relaxed.owl BTO:0005081 uberon owl:Class N69d4003875ca49ff9adc7379b6fed3df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:38794 biolink:NamedThing pteroic acid tmpxe7fu0cj_hp_relaxed.owl Pteroic acid|Pteroinsaeure 0 C14H12N6O3 312.284 312.09709 DrugBank:DB04196|CAS:119-24-4 CHEBI:26378 chebi_ontology owl:Class CHEBI:35223 biolink:NamedThing catalyst A substance that increases the rate of a reaction without modifying the overall standard Gibbs energy change in the reaction. tmpxe7fu0cj_hp_relaxed.owl catalyseur|catalyst|Katalysator|catalizador chebi_ontology owl:Class Nfd70cbcaea374623a6d5a02a2f673eb9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N25d68e7904dd4ba7ad29aed32a545a44 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011455 biolink:NamedThing Absent malleus Aplasia of the malleus. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:300169003|UMLS:C0576900 peter 2012-03-19T09:40:08Z human_phenotype owl:Class Nd493b273c4ea4fcfaf2da43519e3e841 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0017748 biolink:NamedThing lower primary incisor tooth A primary incisor tooth that is part of a lower jaw region. tmpxe7fu0cj_hp_relaxed.owl lower deciduous incisor tooth|deciduous lower incisor tooth|primary lower incisor tooth FMA:84215 uberon owl:Class UBERON:0013679 biolink:NamedThing inner canthus of right eye An inner canthus that is part of a right eye. tmpxe7fu0cj_hp_relaxed.owl right inner canthus|medial canthus of right eye|medial angle of right eye|right medial canthus|right medial palpebral commissure FMA:59319 uberon owl:Class HP:0100116 biolink:NamedThing Irregular epiphysis of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the middle bone of the 2nd toe UMLS:C4022305 doelkens 2010-06-24T10:05:37Z human_phenotype owl:Class N849caab99f62498993a7112a13ed1f49 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1901534 biolink:NamedThing positive regulation of hematopoietic progenitor cell differentiation Any process that activates or increases the frequency, rate or extent of hematopoietic progenitor cell differentiation. tmpxe7fu0cj_hp_relaxed.owl positive regulation of haematopoietic progenitor cell differentiation|up-regulation of hemopoietic progenitor cell differentiation|upregulation of haemopoietic progenitor cell differentiation|up regulation of hematopoietic progenitor cell differentiation|activation of hematopoietic progenitor cell differentiation|up-regulation of hematopoietic progenitor cell differentiation|up-regulation of haemopoietic progenitor cell differentiation|activation of haematopoietic progenitor cell differentiation|activation of hemopoietic progenitor cell differentiation|up regulation of haematopoietic progenitor cell differentiation|up-regulation of haematopoietic progenitor cell differentiation|upregulation of hematopoietic progenitor cell differentiation|activation of haemopoietic progenitor cell differentiation|positive regulation of hemopoietic progenitor cell differentiation|up regulation of hemopoietic progenitor cell differentiation|positive regulation of haemopoietic progenitor cell differentiation|upregulation of hemopoietic progenitor cell differentiation|up regulation of haemopoietic progenitor cell differentiation|upregulation of haematopoietic progenitor cell differentiation vk 2012-10-24T11:23:14Z biological_process owl:Class Na38720455f6f40e4bb85a7112fb2c4e4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nea5feaeab56f43e8b96200515adb8dee biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0004565 biolink:NamedThing beta-galactosidase activity Catalysis of the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides. tmpxe7fu0cj_hp_relaxed.owl exo-(1->4)-beta-D-galactanase activity|beta-lactosidase activity|beta-D-galactoside galactohydrolase activity|beta-D-galactanase activity|beta-D-lactosidase activity|hydrolact Reactome:R-HSA-1793217|Reactome:R-HSA-1606312|Reactome:R-HSA-9036061|MetaCyc:BGALACT-PWY|Reactome:R-HSA-2090079|Reactome:R-HSA-1630306|Reactome:R-HSA-1605624|EC:3.2.1.23|MetaCyc:3.2.1.23-RXN|Reactome:R-HSA-2265534 Note that the inclusion of 'MetaCyc:BGALACT-PWY' is exceptional: normally MetaCyc pathway entries are database references for biological process terms, not molecular function terms. An exception was made in this case because the MetaCyc entry 'BGALACT-PWY' describes only one reaction, that catalyzed by beta-galactosidase. molecular_function owl:Class N4e2157d6b9dd4affa10f391c9efa4989 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N857fa3fdc4e24c108fabc7443c748b8d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015453 biolink:NamedThing subcutaneous lymph node A lymph node that is part of a hypodermis. tmpxe7fu0cj_hp_relaxed.owl MA:0003028 uberon owl:Class Nbc066f59f56b44b8979b96c09e5753f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9e78ceda6b954791bc8267ac2e69fd61 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N464b2d2301eb4bc3b04b9eb5a0454c00 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0045086 biolink:NamedThing Knee joint hypermobility The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). tmpxe7fu0cj_hp_relaxed.owl Knee joint over-flexibility owl:Class N9214b53d27554524a13af209623190c0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N286b0deffaa840b39b1ae7b63cd23041 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003920 biolink:NamedThing Sloping humeral metaphysis tmpxe7fu0cj_hp_relaxed.owl Sloping metaphysis of long bone of upper arm UMLS:C4025507 human_phenotype owl:Class N9cbf15fdfb564abfa4471a379c4ed3b3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd8eeb395f4ca46af984a91b85e7f4ad5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1cb8c61044a54b45ad7eea75e9c405e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb97d56a151c64fcd90d79f8a7af7ee8b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003281 biolink:NamedThing Increased circulating ferritin concentration Increased concentration of ferritin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Hyperferritinemia|High ferritin level|Increased plasma ferritin|Increased serum ferritin level|Hyperferritinaemia|Increased ferritin|Elevated serum ferritin UMLS:C3854388|UMLS:C0743912|UMLS:C0241013 Ferritin is a ubiquitous intracellular protein that stores iron. Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction. owl:Class Nf310837897f84303849e1e07b36b3b94 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001499 biolink:NamedThing muscle of arm A muscle organ that is part of an arm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl arm skeletal muscle|muscle of upper arm or lower arm|arm muscle|arm muscle system|arm skeletal muscle tissue|upper arm / lower arm muscle EMAPA:36053|RETIRED_EHDAA2:0000142|EHDAA:8277|MA:0000594 UBERON:0003272 uberon owl:Class See notes on UBERON:0001460 for possible terminological confusion over term 'arm'. MA uses this consistent with uberon (forelimb muscle is subdivided into shoulder, arm and hand) HP:0007009 biolink:NamedThing Central nervous system degeneration tmpxe7fu0cj_hp_relaxed.owl CNS degeneration UMLS:C3277687 owl:Class N97a09896fff4420b8b60fed581621993 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009652 biolink:NamedThing bronchus basement membrane A basement membrane that is part of a bronchus. tmpxe7fu0cj_hp_relaxed.owl bronchial basement membrane MA:0001832|EMAPA:37809|NCIT:C49208|UMLS:C1707051 uberon owl:Class MA classifies as type of connective tissue: https://github.com/obophenotype/mouse-anatomy-ontology/issues/108 N2ad3ea37978547fa9b521b1d9732b57f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naf7a4338ef5b437585b602c9a675b2f0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc34f677b963d44b99bdca18e1166f8c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001540 biolink:NamedThing Diastasis recti A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). tmpxe7fu0cj_hp_relaxed.owl Gap between large left and right abdominal muscles SNOMEDCT_US:62629000|UMLS:C0221766 Diastasis recti looks like a ridge, which runs down the middle of the abdomen and increases with muscle straining. Diastasis recti is not uncommon in pregnant women and is common and normal in newborns. human_phenotype owl:Class Naa17bc87d0a646ff8a8f5b5d5fd01343 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0043353 biolink:NamedThing enucleate erythrocyte differentiation The process in which a myeloid precursor cell acquires specialized features of an erythrocyte without a nucleus. An example of this process is found in Mus musculus. tmpxe7fu0cj_hp_relaxed.owl enucleate RBC differentiation|enucleate red blood cell differentiation biological_process owl:Class HP:0011463 biolink:NamedThing Childhood onset Onset of disease at the age of between 1 and 5 years. tmpxe7fu0cj_hp_relaxed.owl Symptoms begin in childhood UMLS:C1837352 This term refers to ages up to but not including the fifth birthday (see Juvenile onset). peter 2012-03-25T07:16:20Z HP:0003617|HP:0003586 human_phenotype owl:Class HsapDv:0000081 biolink:NamedThing child stage Immature stage that refers to child who is over 2 and under 13 years old. tmpxe7fu0cj_hp_relaxed.owl 2-12 years human_developmental_stage 13.0 2.0 owl:Class HP:0200158 biolink:NamedThing Agenesis of permanent mandibular lateral incisor tmpxe7fu0cj_hp_relaxed.owl Missing permanent mandibular lateral incisor|Absence of adult mandibular lateral incisor|Missing adult lower lateral incisor|Failure of development of permanent mandibular lateral incisor|Absence of permanent mandibular lateral incisor UMLS:C4280282|UMLS:C4021879 owl:Class Nfae9b84e6fa04645b2377682710cf582 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004408 biolink:NamedThing distal epiphysis of ulna A distal epiphysis that is part of a ulna [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl distal end of ulna|lower end of ulna FMA:33754 uberon owl:Class N5aba073e1eef4ed5870f0c54452aea14 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfb7ea833a9184df4afd5640ad076f4d0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0fba24fedc01439fab1b2ef41bf7cb2d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc7085cb037d644c39e6917ef48544cf4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf7b9bad59d434d418e979ae75df834f3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd7e3bd6f67194ae8a89bcad24df4f62b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009537 biolink:NamedThing Flexion contracture of the 2nd finger Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected. tmpxe7fu0cj_hp_relaxed.owl Joint contractures of the 2nd finger UMLS:C4021452 doelkens 2009-01-21T10:10:27Z human_phenotype owl:Class N808b8bd1ee1d4e4dbc7150b5668d9240 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nff33eb152fba4acea4179bf27ff84794 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040191 biolink:NamedThing Rectus femoris muscle atrophy tmpxe7fu0cj_hp_relaxed.owl Atrophy of the rectus femoris muscles UMLS:C2083352 HPO:skoehler owl:Class N3d601bd600b74ab2a704cde35b788fe7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N724ce53735be4151b2bd77fdaf889a3f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003954 biolink:NamedThing squamoparietal suture The articulation of the squamous portion of the temporal bones with the parietal bones[MP]. The squamosal suture arches backward from the pterion and connects the temporal squama with the lower border of the parietal: this suture is continuous behind with the short, nearly horizontal parietomastoid suture, which unites the mastoid process of the temporal with the region of the mastoid angle of the parietal[WP]. tmpxe7fu0cj_hp_relaxed.owl sutura squamosa cranii|squamo-parietal suture|squamous suture|squamosal suture|squamous suture of skull|squamoparietal suture of skull EMAPA:19228|FMA:52946 Gray188-Squamosal:suture.png uberon owl:Class HP:0500153 biolink:NamedThing Hyperargininemia An increased amount of arginine levels in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased blood arginine concentration|High blood arginine levels 2018-10-05 14:45:02+00:00 owl:Class N1f57005659f84f6395b5f95dc2b6a812 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4d8cd029da534189b764f176c5eefab5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N44c5f2ca4aeb41399727e05d0fa3bfb1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0032209 biolink:NamedThing Abnormal circulating free T3 level A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating free triiodotyronine concentration|Abnormal circulating free T3 concentration 2019-01-20 20:34:42+00:00 peter owl:Class N4bf5edd596f64f1baaa46355d1ca314b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N35aa0242a0eb40c8bb6d0efdfc865f87 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N883adc62777140969fcd7e40422c6d8a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014720 biolink:NamedThing interlobar duct A duct that is located between lobes, within conspicuous, thick connective tissue septa that separate lobes. All interlobar ducts are excretory. tmpxe7fu0cj_hp_relaxed.owl intralobular ductule uberon owl:Class CL:0001031 biolink:NamedThing cerebellar granule cell Granule cell that is part of the cerebellum. tmpxe7fu0cj_hp_relaxed.owl BTO:0004278 cell owl:Class Naf510266141d4c918f10ac7814b3ecac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001963 biolink:NamedThing bronchial-associated lymphoid tissue A diffuse collection of lymphpoid cells that participate in airway immune responses. tmpxe7fu0cj_hp_relaxed.owl bronchus associated lymphoid tissue|BALT MA:0000135|NCIT:C32234|UMLS:C1179418|FMA:62821 Lymphoid tissue associated with airways in mice has functional similarities to human BALT[ISBN:0123813611] Notes: FMA classifies this as organized, not diffuse uberon owl:Class N3c4f40dc787645e59b2870ded5fbf518 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8e8db953bade4606821b286b9da5c9e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N68003a7e80884f638a82bc8c2e07261b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncf39ad9541ab4b7c908359662e7b80a0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010157 biolink:NamedThing Small epiphysis of the 1st metatarsal tmpxe7fu0cj_hp_relaxed.owl Small end part of the 1st long bone of foot UMLS:C4024002 doelkens 2009-05-29T01:24:17Z human_phenotype owl:Class Na8d8f3dad60141aba81366977e3554ea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N869ea741702f439dbddb449e822929cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N90a29bea9e3c4070b22e3cc75df89d78 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1158fc41392c40bca92f38824d8dc5ab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0070859 biolink:NamedThing positive regulation of bile acid biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0035290 biolink:NamedThing trunk segmentation Partitioning of the blastoderm embryo into trunk segmental units. In Drosophila, the trunk segments include thoracic segments and abdominal segments A1 to A8. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0007350 biolink:NamedThing blastoderm segmentation The hierarchical steps resulting in the progressive subdivision of the anterior/posterior axis of the embryo. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0003679 biolink:NamedThing mouth floor The ventral area of the mouth. In organisms with a tongue, this is the area under the ventral surface of the tongue[ncit, modified]. tmpxe7fu0cj_hp_relaxed.owl floor of mouth|floor of the oval cavity|sublingual region|floor of oval cavity FMA:86592|MESH:D009060|GAID:1283|CALOHA:TS-2207|EMAPA:37911|UMLS:C0026638|NCIT:C54187|EFO:0001923 reclassify after CARO2 overhaul uberon owl:Class HP:0005925 biolink:NamedThing Abnormalities of the diaphyses of the hand tmpxe7fu0cj_hp_relaxed.owl Abnormalities of shaft of long bone of the hand UMLS:C4025106 peter 2008-03-27T02:28:00Z human_phenotype owl:Class N9ad8b0477f3045ceb1c2c854ebd14915 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd9652e253cc54689b0685bda17da4ee8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007774 biolink:NamedThing Hypoplasia of the ciliary body Underdevelopment of the ciliary body. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1836890 human_phenotype owl:Class N878588c006754a29827c226e2a049fb4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001854 biolink:NamedThing Podagra Gout affecting the Metatarsophalangeal joint of big toe. tmpxe7fu0cj_hp_relaxed.owl Gout of big toe SNOMEDCT_US:67148009|UMLS:C0221168 human_phenotype owl:Class N26f629a18cda4043a80ca05f65bf7c33 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100238 biolink:NamedThing Synostosis involving bones of the upper limbs An abnormal union between bones or parts of bones of the upper limbs. tmpxe7fu0cj_hp_relaxed.owl Fusion involving bones of the upper limbs UMLS:C4022184 doelkens 2010-06-24T05:49:08Z human_phenotype owl:Class Na58ef3b30d954339a9f33505b921e85c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf1365173041a4af296a51937865e5511 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9ffa699a55624cc098619e3b89277d17 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1903037 biolink:NamedThing regulation of leukocyte cell-cell adhesion Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion. tmpxe7fu0cj_hp_relaxed.owl regulation of leukocyte cell adhesion|regulation of leukocyte adhesion Exogenous expression of ASS1 or NOS3 in HUVECs enhances NO production and inhibits monocyte adhesion rl 2014-05-19T15:29:58Z biological_process owl:Class HP:0100108 biolink:NamedThing Small epiphysis of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Small end part of the outermost bone of the 2nd toe UMLS:C4022313 doelkens 2010-06-24T10:04:20Z human_phenotype owl:Class N2aee783b44004849af00f8246c9dcd38 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7412508f2c3345cb9dab9a0e90a904eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N151c0bf246d640648216593d0c2ac836 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd329363d945445e89f106e09a9d34f5e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N542577a0d0454b5ab7f9f05fe753790b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc80d1599d18545b9958616b35225bcbc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040004 biolink:NamedThing Abnormality of corneal shape tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022500 HPO:skoehler owl:Class N2b95fe2703194c5e9c8e9188f35f177c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0c94e2911f714521b76e8153b35a0ae7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008802 biolink:NamedThing Hypoplasia of the femoral head Underdevelopment of the femoral head. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic femoral head|Small head of thigh bone|Small femoral heads UMLS:C1856920 HP:0008831 human_phenotype owl:Class Nf618943d72464984a60fff2c702162b6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HGNC:438 biolink:NamedThing ALPL (human) A protein coding gene ALPL in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class N3bc2904e52fd419bb5bd9623033ab1c2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0015774 biolink:NamedThing polysaccharide transport The directed movement of polysaccharides into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A polysaccharide is a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N940011de7d814a27ac526ff8fcf0f04e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1cd16bc10d534586ad1ef87f5b8229e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5d7be89757864bd1b68e1aef04054c35 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndf8a0aa18e9d497ea1e26fb283488c19 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010761 biolink:NamedThing Broad columella Increased width of the columella. tmpxe7fu0cj_hp_relaxed.owl Hyperplasia of columella|Increased width of columella|Columella, broad|Fullness of columella|Columella, wide UMLS:C4280365|UMLS:C1851059 peter 2010-04-24T11:52:54Z human_phenotype owl:Class N0c422b11aca44ef7b851e2948b6670de biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011387 biolink:NamedThing Enlarged vestibular aqueduct Increased size of the vestibular aqueduct. tmpxe7fu0cj_hp_relaxed.owl Dilated vestibular aqueduct|Widened vestibular aqueduct UMLS:C1863752|MSH:C566366 Enlarged vestibular aqueduct is commonly seen in Pendred syndrome. peter 2012-03-09T07:38:34Z human_phenotype owl:Class Nb51c73efd78547d7a398c471c728dc55 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008812 biolink:NamedThing Flattened femoral head An abnormally flattened femoral head. tmpxe7fu0cj_hp_relaxed.owl Flat head of thigh bone|Flattened femoral heads UMLS:C1860601 human_phenotype owl:Class N9277d97786d741c091dd27c02991d807 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne78565307a994533bcb125b29175b334 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3344565c5a644e4ea86a6b33e4725ff9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0051175 biolink:NamedThing negative regulation of sulfur metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur. tmpxe7fu0cj_hp_relaxed.owl downregulation of sulfur metabolic process|negative regulation of sulphur metabolism|down regulation of sulfur metabolic process|negative regulation of sulphur metabolic process|down-regulation of sulfur metabolic process|inhibition of sulfur metabolic process|negative regulation of sulfur metabolism biological_process owl:Class HP:0032183 biolink:NamedThing Decreased proportion of memory T cells An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased proportion of CD4+CD29+ cells 2019-01-12 14:35:47+00:00 peter owl:Class Nebd8d46353ff4912a76f477789c1893a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005621 biolink:NamedThing Trapezoidal vertebral body An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the fron or back than on the other side. tmpxe7fu0cj_hp_relaxed.owl Trapezoidal shaped vertebral bodies|Trapezoidal vertebral bodies UMLS:C4025171 See Figure 1d in PMID:33247084. owl:Class Na396d2e910894bbd9a5c0cfd587cd1a5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035545 biolink:NamedThing deep lymphatic vessel The tubules that carry lymph throughout the body that are in the interior of the body or limbs. tmpxe7fu0cj_hp_relaxed.owl deep lymph vessel NCIT:C32439|FMA:52012 uberon owl:Class Nd91f815d4a6f4b75bcf929f9f1007f1c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N26bcdcb2ab55498a8b40a0fbdfd8ec15 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N93daa499514b4ca8b3935e859b51265f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003677 biolink:NamedThing DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). tmpxe7fu0cj_hp_relaxed.owl microtubule/chromatin interaction|structure specific DNA binding|structure-specific DNA binding|plasmid binding GO:0043566 molecular_function owl:Class N1f2cccac39b34281b47c03d406b7ecad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbdfa8f290c69408ea1dbd16f036a5f5e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0110122 biolink:NamedThing myotube cell migration The orderly movement of a myotube cell from one site to another, often during the development of a multicellular organism. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate, and fuse. tmpxe7fu0cj_hp_relaxed.owl kmv 2018-08-22T20:58:09Z biological_process owl:Class UBERON:0006718 biolink:NamedThing medial pterygoid muscle The medial pterygoid is a pharyngeal arch 1 muscle that participates in oral/pharyngeal behaviors and is innervated by the nerve to the medial pterygoid and attaches to the cranial base and the medial side of the mandibular angle. tmpxe7fu0cj_hp_relaxed.owl pterygoidei internus|pterygoideus medial|internal pterygoid|pterygoideus internus|musculus pterygoideus medialis|musculus pterygoideus internus|internal pterygoid muscle|pterygoid medialis|pterygoideus medialis|medial pterygoid MFMO:0000083|BTO:0005226|EMAPA:25141|FMA:49011|UMLS:C1512882|NCIT:C32861|MA:0002361 http://upload.wikimedia.org/wikipedia/commons/e/ec/Musculuspterygoideusmedialis.png uberon owl:Class The medial pterygoid is a pharyngeal arch 1 muscle that participates in oral/pharyngeal behaviors and is innervated by the nerve to the medial pterygoid and attaches to the cranial base and the medial side of the mandibular angle.[FEED] HP:0006606 biolink:NamedThing Irregular chondrocostal junctions Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. tmpxe7fu0cj_hp_relaxed.owl Irregular costochondral margins UMLS:C1861199 The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum. HP:0006658 human_phenotype owl:Class N51bc9c5542ff47158e850a0a6e019891 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf8cb58c7c18441ccbebaeaa2fd3bf47e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8f6b9a32f38a4d509dab2059600ba69b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002212 biolink:NamedThing Curly hair tmpxe7fu0cj_hp_relaxed.owl Curly hair SNOMEDCT_US:225570000|UMLS:C0558165 human_phenotype owl:Class N17f3dcc3a2f748c1982ba901e69025aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1902570 biolink:NamedThing protein localization to nucleolus A process in which a protein is transported to, or maintained in, a location within a nucleolus. tmpxe7fu0cj_hp_relaxed.owl protein localization in nucleolus|protein localisation to nucleolus|protein localisation in nucleolus mah 2013-12-10T16:25:28Z biological_process owl:Class Ne0d46f940e984cfa80167608e12f7600 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5aa7a04586584d3288fcca966d106f15 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003923 biolink:NamedThing Square humeral metaphysis tmpxe7fu0cj_hp_relaxed.owl Square metaphysis of long bone of upper arm UMLS:C4025504 human_phenotype owl:Class N858b27fa04884fc2b19c5b094da4a4f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0032620 biolink:NamedThing Intrarenal abscess An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis. tmpxe7fu0cj_hp_relaxed.owl Renal abscess|Renal parenchymal abcess Most renal abscesses are caused by gram-negative bacteria and are commonly caused by ascending infection associated with urologic abnormality, obstruction or calculi. peter owl:Class N7d00e8f268d842eea8f1486026ffa1f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd8c40f0166e3477a93bcf5d80ce58baf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:35492 biolink:NamedThing cystine zwitterion An amino acid zwitterion that is the tautomer of cystine. tmpxe7fu0cj_hp_relaxed.owl 3,3'-disulfanediylbis(2-ammoniopropanoate)|3,3'-dithiobis(2-ammoniopropanoate) 0 C6H12N2O4S2 InChI=1S/C6H12N2O4S2/c7-3(5(9)10)1-13-14-2-4(8)6(11)12/h3-4H,1-2,7-8H2,(H,9,10)(H,11,12) LEVWYRKDKASIDU-UHFFFAOYSA-N 240.30256 240.02385 [NH3+]C(CSSCC([NH3+])C([O-])=O)C([O-])=O Gmelin:51007 chebi_ontology owl:Class N8e6427da8698459290f01ca72b4e211d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000431 biolink:NamedThing Wide nasal bridge Increased breadth of the nasal bridge (and with it, the nasal root). tmpxe7fu0cj_hp_relaxed.owl Increased breadth of bridge of nose|Nasal bridge, wide|Broad flat nasal bridge|Nasal bridge broad|Increased width of bridge of nose|Broad nasal bridge|Broadened nasal bridge|Wide bridge of nose|Broad nasal root|Wide nasal bridge|Widened nasal bridge|Increased width of nasal bridge|Increased breadth of nasal bridge UMLS:C1839764|SNOMEDCT_US:249321001|UMLS:C1849367 Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately. HP:0004500|HP:0004504|HP:0200139|HP:0000424|HP:0004650 human_phenotype owl:Class Nde87669dcd5d419d8eea302e92915bae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0bf48289b40d42eda1847e82bdbccc41 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011979 biolink:NamedThing Elevated urinary dopamine An increased concentration of dopamine in the urine. tmpxe7fu0cj_hp_relaxed.owl Elevated urinary dopamine UMLS:C4023099 peter 2012-07-18T09:13:16Z human_phenotype owl:Class Nb68de8af9d0b4c1884aa7b328612bd96 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbd19b238ad8740ccacd433b22e6ee16e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb84dc0a3d2034dbbb3cef7eaa039e146 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010030 biolink:NamedThing Osteolytic defects of the 1st metacarpal Dissolution or degeneration of bone tissue of the 1st metacarpal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024094 Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness'). doelkens 2009-05-27T04:24:30Z human_phenotype owl:Class N8a62aba6b5424bf285954b21da847637 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc83a52e54dc146c1aa12f7c89aae273d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc2925449a20b4dc7a124d2387db670c1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N84bbae113f094fe489dd8cc6ccaca18d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1eb46e3b22e84c2b8e873e0e64bdb735 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:3000049 biolink:NamedThing Abnormal greater palatine artery morphology An abnormality of a greater palatine artery. tmpxe7fu0cj_hp_relaxed.owl Abnormality of greater palatine artery UMLS:C4073257 The greater palatine artery is a terminal branch of the maxillary artery that supplies blood to the hard palate and nasal septum. vasilevs 2015-08-07T01:08:50Z owl:Class Nbc27b6d30352438b9f264d02eea085a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1900132 biolink:NamedThing positive regulation of lipid binding Any process that activates or increases the frequency, rate or extent of lipid binding. tmpxe7fu0cj_hp_relaxed.owl upregulation of lipid binding|up regulation of lipid binding|up-regulation of lipid binding|activation of lipid binding pm 2012-02-23T04:05:11Z biological_process owl:Class N5a457c8830ab4521a626b1966dd66747 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8733ce96fc344b38ba8bcaf96b406715 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc92a0a65689142eca48ddebe58b5d980 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003230 biolink:NamedThing cardiac atrium development The process whose specific outcome is the progression of a cardiac atrium over time, from its formation to the mature structure. A cardiac atrium receives blood from a vein and pumps it to a cardiac ventricle. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-13T11:02:07Z biological_process owl:Class Ne71acb806d9e4e609148ed54b6f2c60c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N960f85484dee4dd2bf4b56d9d9ef2f5c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1403966560a2426fa210611dcdecd8f7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001785 biolink:NamedThing Ankle swelling tmpxe7fu0cj_hp_relaxed.owl Ankle swelling UMLS:C0235439|SNOMEDCT_US:26237000|SNOMEDCT_US:267039000 human_phenotype owl:Class N8b998425d5464baba8cf5bec8c683824 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nedb5501ce6b24338954de2d4974bc614 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1904739 biolink:NamedThing regulation of synapse organization by posttranscriptional regulation of gene expression A posttranscriptional regulation of gene expression that results in regulation of synapse organization. tmpxe7fu0cj_hp_relaxed.owl regulation of synapse organisation by posttranscriptional regulation of gene expression|regulation of synapse morphogenesis by posttranscriptional regulation of gene expression|regulation of synapse organization and biogenesis by posttranscriptional regulation of gene expression|regulation of synapse development by posttranscriptional regulation of gene expression tb 2015-10-15T21:25:46Z biological_process owl:Class Nb4bbb04fc2724035b2942e7191b7715e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:35907 biolink:NamedThing glutarate(1-) A dicarboxylic acid monoanion that is the conjugate base of glutaric acid. tmpxe7fu0cj_hp_relaxed.owl hydrogen glutarate|4-carboxybutanoate -1 C5H7O4 InChI=1S/C5H8O4/c6-4(7)2-1-3-5(8)9/h1-3H2,(H,6,7)(H,8,9)/p-1 JFCQEDHGNNZCLN-UHFFFAOYSA-M 131.10668 131.03498 OC(=O)CCCC([O-])=O Reaxys:3904478|Gmelin:326031|Beilstein:3904478 CHEBI:30922|CHEBI:35906 chebi_ontology owl:Class UBERON:0003850 biolink:NamedThing telencephalon neural crest A neural crest that has_potential_to_developmentally_contribute_to a telencephalon. tmpxe7fu0cj_hp_relaxed.owl neural crest telencephalon VHOG:0000799|EFO:0003574|RETIRED_EHDAA2:0001991|ZFA:0000812|TAO:0000812 uberon owl:Class Cranial neural crest that is part of the telencephalon.[TAO] We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] N2eee00740dbb4390b115be69b0d525c2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006247 biolink:NamedThing iliac pre-cartilage condensation An iliac endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18029|EHDAA2:0000809|VHOG:0000964|EHDAA:9568 uberon owl:Class N24acf47551734e8e83b365e89b005173 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003210 biolink:NamedThing Decreased methylmalonyl-CoA mutase activity An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity. tmpxe7fu0cj_hp_relaxed.owl Decreased methylmalonyl CoA mutase activity UMLS:C1848579 The product of the enzyme, succinyl-CoA, is a key molecule of the TCA (Krebs) cycle. The substrate of the enzyme, methylmalonyl-CoA, is primarily derived from propionyl-CoA, a substance formed from the catabolism of isoleucine, valine, threonine, methionine, thymine, uracil, cholesterol, or odd-chain fatty acids. human_phenotype owl:Class N2b6f8d34371c4f03ad7e4d5ac842a250 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5cfd1bb6211643578057f49ed9285494 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndc958ff71078449cbae06bee06e9ef7d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002112 biolink:NamedThing smooth muscle of esophagus A portion of smooth muscle tissue that is part of a esophagus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl oesophagus smooth muscle|involuntary muscle of esophagus|smooth muscle tissue of oesophagus|non-striated muscle of gullet|smooth muscle of gullet|non-striated muscle of esophagus|esophagus smooth muscle|oesophagus involuntary muscle|smooth muscle of oesophagus|gullet smooth muscle|oesophagus non-striated muscle|gullet involuntary muscle|smooth muscle tissue of esophagus|non-striated muscle of oesophagus|esophagus non-striated muscle|gullet non-striated muscle|involuntary muscle of gullet|esophagus involuntary muscle|smooth muscle tissue of gullet|esophagus smooth muscle tissue|involuntary muscle of oesophagus|oesophagus smooth muscle tissue|esophageal smooth muscle|gullet smooth muscle tissue MA:0001573|FMA:72025|EMAPA:35323 uberon owl:Class N867f73d588ba4262be17e0956be1b7bf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009613 biolink:NamedThing Duplication of the proximal phalanx of the thumb Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Notched innermost bone of thumb|Partial/complete duplication of the proximal phalanx of the thumb UMLS:C4021424 doelkens 2009-01-29T03:59:56Z human_phenotype owl:Class Nb1c1b5a43a874441b78162e0f349ce5e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035608 biolink:NamedThing dura mater lymph vessel Any lymph vessel that is located in the dura mater of the brain. tmpxe7fu0cj_hp_relaxed.owl dural lymph vessel|dural lymph vasculature Louveau et al (DOI:10.1038/nature14432) claim the discovery of lymphatics in the cerebral dura mater, but this is disputed by Bucchieri et al (DOI:10.1111/joa.12381) uberon owl:Class while Louveau et al (DOI:10.1038/nature14432) state this is within the CNS (thus overturning dogma about the presence of lymphatics in the CNS), in this ontology the dura N84e93aeed5224755a3a09178590fce24 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0140237 biolink:NamedThing translation at presynapse, modulating chemical synaptic transmission Translation that occurs at the presynapse, and that modulates chemical synaptic transmission. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/synapse/issues/216 Note that this term was created for the SynGO project, and will be obsoleted when the SynGO annotations are made in Noctua. pg 2018-07-13T13:07:23Z biological_process owl:Class GO:0007439 biolink:NamedThing ectodermal digestive tract development The process whose specific outcome is the progression of the ectodermal digestive tract over time, from its formation to the mature structure. The ectodermal digestive tract includes those portions that are derived from ectoderm. tmpxe7fu0cj_hp_relaxed.owl ectodermal gut development biological_process owl:Class N17092c4c701d459d9211a31df7a2a4b9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0031315 biolink:NamedThing External carotid artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery. tmpxe7fu0cj_hp_relaxed.owl 2017-08-26 21:53:48+00:00 peter owl:Class Nd166eadf84ea4d728662071054ccc7eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014693 biolink:NamedThing inferior alveolar artery tmpxe7fu0cj_hp_relaxed.owl FMA:49695 uberon owl:Class Nc0f894a3c45149cea7bf278569beedc1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007753 biolink:NamedThing metatarsophalangeal joint of pedal digit 2 A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 2. tmpxe7fu0cj_hp_relaxed.owl metatarsophalangeal joint of pedal digit II|metatarsophalangeal joint of second toe|metatarsophalangeal joint of second digit of foot FMA:35231|EMAPA:26442 uberon owl:Class the name of the structure in EMAPA is incorrect UBERON:0005483 biolink:NamedThing thymus lobe Either of the two lateral lobes that constitute the thymus. tmpxe7fu0cj_hp_relaxed.owl lateral lobe of thymus|lobe of thymus RETIRED_EHDAA2:0002021|FMA:71193 uberon owl:Class each lobe of the thymus can be divided into a central medulla and a peripheral cortex which is surrounded by an outer capsule. Each lobe is composed of numerous lobules held together by delicate areolar tissue; the entire organ being enclosed in an investing capsule of a similar but denser structure. The primary lobules vary in size from that of a pin's head to that of a small pea, and are made up of a number of small nodules or follicles.[WP] GO:0006560 biolink:NamedThing proline metabolic process The chemical reactions and pathways involving proline (pyrrolidine-2-carboxylic acid), a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins. tmpxe7fu0cj_hp_relaxed.owl proline metabolism biological_process owl:Class GO:1904693 biolink:NamedThing midbrain morphogenesis The developmental process by which a midbrain is generated and organized. tmpxe7fu0cj_hp_relaxed.owl MB morphogenesis|mesencephalon morphogenesis bf 2015-09-29T09:15:28Z biological_process owl:Class HP:0003733 biolink:NamedThing Thigh hypertrophy Muscle hypertrophy affecting the thighs. tmpxe7fu0cj_hp_relaxed.owl Increased thigh size UMLS:C1846674 Proximal lower limb hypertrophy human_phenotype owl:Class N899032d770de4b08a4a16312221a2a54 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0010975 biolink:NamedThing regulation of neuron projection development Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpxe7fu0cj_hp_relaxed.owl regulation of neurite biosynthesis|regulation of neurite formation|regulation of neurite development|regulation of neurite growth tb 2009-06-01T10:44:45Z biological_process owl:Class N8c6ed99058fa41868ade3037946f111d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf9ba49fbce0d4cc6b386a01806b6e41c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9fabbd6097f547d0ac47b3aff282c23e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nccc70c9032df4a2d95d8259ff645ce54 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2403556edde6444abf69d943a640724c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0016595 biolink:NamedThing glutamate binding Binding to glutamate, the anion of 2-aminopentanedioic acid. tmpxe7fu0cj_hp_relaxed.owl glutamic acid binding molecular_function owl:Class N18bab94705d649ac8663a850ced2b45e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N858cae55c3bd4d7daf941b003a1b02d5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009422 biolink:NamedThing Broad distal phalanx of the 3rd finger Increased width of the distal phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Broad outermost bone of middle finger UMLS:C4024373 doelkens 2009-01-14T03:16:46Z human_phenotype owl:Class N70b908d0133f4d90a68171cf1da38bba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0041227 biolink:NamedThing Fractured distal tarsal bone 2 A partial or complete breakage of the distal tarsal bone 2. tmpxe7fu0cj_hp_relaxed.owl bone distal tarsal bone 2 owl:Class N7c79d5cd12a9473b9cea52b2bc0c6afc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7f33d7ff65954cf08e8e9fc5339eb545 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004291 biolink:NamedThing heart rudiment A cone-like structure that is formed when myocardial progenitor cells of the heart field fuse at the midline. The heart rudiment is the first structure of the heart tube. tmpxe7fu0cj_hp_relaxed.owl rudimentary heart|heart cone ZFA:0000115|TAO:0000115 uberon owl:Class The migrating myocardial precursors of the heart rudiment form a cone like structure between 19.5hpf and 22hpf, and eventually telescope out into the primitive heart tube at 24hpf. Stainier 2001.[TAO] UBERON:0004139 biolink:NamedThing cardiogenic plate The first recognizable structure derived from the heart field. tmpxe7fu0cj_hp_relaxed.owl cardiac crescent|heart rudiment|myocardial plate|cardiogenic crescent EMAPA:16106|EHDAA2:0000215|VHOG:0000975 TODO - check plate vs rudiment vs primordium vs endocardial tube. See XAO uberon owl:Class (In vertebrates) The embryonic mesoderm is the source of both the cardiogenic plate, giving rise to the future myocardium as well as the endocardium that will line the system on the inner side.[well established][VHOG] N2bd62309d694486fa2db77454885e0ea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011088 biolink:NamedThing ligament of knee joint A ligament that is part of a knee joint. tmpxe7fu0cj_hp_relaxed.owl knee joint ligament FMA:44580 uberon owl:Class N5c857cb31bd743a497299dc5ba70a5c3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005311 biolink:NamedThing Agenesis of pulmonary vessels A developmental defect characterized by the lack of formation of the pulmonary blood vessels. tmpxe7fu0cj_hp_relaxed.owl Absent lung vessels UMLS:C1970630 owl:Class Nd56eb6917ff14e9498229c824a0e06ca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N05d64c232e3d4b6e8a260f3e35d10fa0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc6bf1e1073e94b8b9cecf792d19fd9f3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010399 biolink:NamedThing spleen trabecular artery One of the branches of the splenic artery[MP]. tmpxe7fu0cj_hp_relaxed.owl trabecular artery UMLS:C1710159|NCIT:C49775|MA:0000759 uberon owl:Class When the splenic artery passes into the trabecula of the spleen and branches, they become known as the trabecular arteries. When these arteries then reach the white pulp, and become covered with Periarteriolar lymphoid sheaths, the name changes again to central arteries (or central arterioles). Branches of the central arteries are given to the red pulp, and these are called penicillar arteries).[Wikipedia] Ncda82aa625d741f4a0d575ed4323ae28 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:000002001 biolink:NamedThing receptor-type tyrosine-protein kinase FLT3 A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human FLT3 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl Fms-like tyrosine kinase 3|FLK2|FLT3|FLT-3|FL cytokine receptor|tyrosine-protein kinase receptor flk-2|tyrosine-protein kinase FLT3|STK-1|fetal liver kinase 2|tyrosine-protein kinase receptor FLT3|STK1|FLK-2|stem cell tyrosine kinase 1|CD135 IUPHARobj:1807|PIRSF:PIRSF500949 Category=gene. Requested by=CL. protein owl:Class UBERON:0009664 biolink:NamedThing gut mesentery tmpxe7fu0cj_hp_relaxed.owl peritoneal cavity mesentary|peritoneal mesentary EMAPA:32911|MA:0003203|EHDAA2:0004566 uberon https://github.com/obophenotype/uberon/issues/509 owl:Class N86a85268bff04ce2bc409612cbf92096 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4571aaa25e80478f9aa24141661e80ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005991 biolink:NamedThing aortic valve anulus The fibrous ring of the aortic valve that attaches the cusps of aortic valve to the wall of left ventricle, and which consists of portions of the fibrous scallops of the posterior, right anterior and left anterior cusps. tmpxe7fu0cj_hp_relaxed.owl fibrous ring of aortic valve|aortic valvar anulus|anulus of aortic valve|aortic anulus EMAPA:37418|FMA:9502 uberon owl:Class N70f576ceeae74ad5b6f013e60f6188c9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne070a19fa4504ab993a23373395a660e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0017651 biolink:NamedThing salivary gland primordium A primordium that has the potential to develop into a saliva-secreting gland. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0010996 biolink:NamedThing articular cartilage of joint A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints. tmpxe7fu0cj_hp_relaxed.owl hyaline cartilage|articular cartilage|cartilago articularis|joint-associated cartilage EFO:0001902|GAID:101|BTO:0001572|UMLS:C0007303|CALOHA:TS-0055|galen:ArticularCartilage|AEO:0000179|MA:0000487|FMA:12264|MESH:A02.165.165|NCIT:C32144|EMAPA:35149 uberon owl:Class GO:0014805 biolink:NamedThing smooth muscle adaptation Any process in which smooth muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. These adaptive events occur in both muscle fibers and associated structures (motoneurons and capillaries), and they involve alterations in regulatory mechanisms, contractile properties and metabolic capacities. tmpxe7fu0cj_hp_relaxed.owl smooth muscle plasticity biological_process owl:Class N76c2bf1217414102a03d33d3de807b40 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne544f111de40446194f6f8ca7ba793b5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N63f3d7895bf645bf87c430753070b6f0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf3b2cd88c72a4ead86bac6d5d1530b84 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N00a094e5c2ee49ab980337fb65536aae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006466 biolink:NamedThing Ankle flexion contracture A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle. tmpxe7fu0cj_hp_relaxed.owl Ankle contractures|Contractures of the ankles|Ankle contracture UMLS:C1837407 HP:0004985|HP:0006403 human_phenotype owl:Class N841eaa15a531469387372d7d0a6c105e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9178d91287b94861960d03f2f9d04aa1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N95e72c73eb504bdf98cbdd139e69fed4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:64570 biolink:NamedThing EC 2.1.2.1 (glycine hydroxymethyltransferase) inhibitor An EC 2.1.2.* (hydroxymethyl-, formyl- and related transferases) inhibitor that interferes with the action of glycine hydroxymethyltransferase (EC 2.1.2.1). tmpxe7fu0cj_hp_relaxed.owl serine aldolase inhibitor|serine hydroxymethyltransferase inhibitor|serine aldolase inhibitors|threonine aldolase inhibitors|allothreonine aldolase inhibitors|threonine aldolase inhibitor|EC 2.1.2.1 inhibitors|serine hydroxymethylase inhibitor|EC 2.1.2.1 (glycine hydroxymethyltransferase) inhibitors|L-threonine aldolase inhibitor|serine transhydroxymethylase inhibitor|5,10-methylenetetrahydrofolate:glycine hydroxymethyltransferase inhibitor|glycine hydroxymethyltransferase inhibitors|5,10-methylenetetrahydrofolate:glycine hydroxymethyltransferase inhibitors|L-serine hydroxymethyltransferase inhibitors|allothreonine aldolase inhibitor|glycine hydroxymethyltransferase (EC 2.1.2.1) inhibitors|EC 2.1.2.1 inhibitor|serine transhydroxymethylase inhibitors|glycine hydroxymethyltransferase inhibitor|serine hydroxymethylase inhibitors|glycine hydroxymethyltransferase (EC 2.1.2.1) inhibitor|L-serine hydroxymethyltransferase inhibitor|L-threonine aldolase inhibitors|serine hydroxymethyltransferase inhibitors Wikipedia:Glycine_hydroxymethyltransferase chebi_ontology owl:Class GO:0021607 biolink:NamedThing accessory nerve morphogenesis The process in which the anatomical structure of the accessory nerve is generated and organized. The spinal branch of this motor nerve innervates the trapezius and the sternocleidomastoid muscles. The cranial branch joins the vagus nerve and innervates the same targets as the vagus nerve. tmpxe7fu0cj_hp_relaxed.owl CN XI morphogenesis biological_process owl:Class N53ab9687edd64d85af1b084672454749 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne0ff75fb880341f9809aef5ef0284869 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011300 biolink:NamedThing Broad fingertip Increased width of the distal segment of a finger. tmpxe7fu0cj_hp_relaxed.owl Broad fingertip|Broad fingertips UMLS:C1968816 This term should be reserved for use when the distal digit is significantly broader than the middle part. It should not be used if the digit has Clubbing or Macrodactyly or if the entire finger is broad. The distinction to the term Broad distal phalanx of finger is that this term is a clinical impression while Broad distal phalanx of finger refers to the objectively measured width of the distal phalane (bone), a radiological finding. hecht 2012-02-11T11:18:08Z owl:Class N066a04a5e77b4c84a723c8e654f58907 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012469 biolink:NamedThing external anal region tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0004589 uberon owl:Class HP:0008830 biolink:NamedThing Hypoplastic pubic rami tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969176 human_phenotype owl:Class N3f0eca673919493c82d3a8c7bd1cfd56 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8f3f466361ba4c4f9454d9f69cd1662e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003407 biolink:NamedThing cartilage of nasal septum A cartilage that is part of a nasal septum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl septal nasal cartilage|nasal septum cartilage|cartilago septal nasi EMAPA:25091|FMA:59503|MA:0003138 uberon owl:Class HP:0010021 biolink:NamedThing Ivory epiphysis of the 1st metacarpal The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the 1st long bone of hand UMLS:C4024102 doelkens 2009-05-27T04:02:50Z owl:Class N46e1692f8ba242ffb8386fe4bcf1d133 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N787fe6f33a684a6396e41adbf2351d30 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005463 biolink:NamedThing Elongated sella turcica tmpxe7fu0cj_hp_relaxed.owl UMLS:C1863311 human_phenotype owl:Class Ne5761263fcbf4fe2aedafcfe3eb281c6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5b24344b7761438b8cd4b6a8a265759f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3556306af8b542289c1bc114bbb2f43f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010074 biolink:NamedThing Triangular shaped 1st metatarsal tmpxe7fu0cj_hp_relaxed.owl Triangular shaped 1st long bone of foot UMLS:C4024070 doelkens 2009-05-29T12:13:57Z human_phenotype owl:Class N83ed2a945dd54f069e7514e7996d4cd8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010531 biolink:NamedThing metanephros induced blastemal cells tmpxe7fu0cj_hp_relaxed.owl cap mesenchyme of metanephros of urinary system|nephrogenic interstitium of nephrogenic zone|nephrogenic interstitium|induced blastemal cells|peripheral blastema EHDAA2:0001143|EMAPA:27621|VHOG:0001241|EHDAA:8105|EMAPA:17953|EHDAA:7007|MA:0002998 uberon owl:Class different versions of EMAPA have different labels for the same classes. In vHOG this is part of metanephros cortex but this leads to a cycle in basic. HP:0004762 biolink:NamedThing Hypoplasia of right ventricle Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells. tmpxe7fu0cj_hp_relaxed.owl Small right heart chamber|Underdeveloped right heart chamber|Heart right ventricle hypoplasia UMLS:C4082954|Fyler:1821 HP:0004951 human_phenotype owl:Class N4e0b0ab1f2974a2381a487541f58c2e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011309 biolink:NamedThing Tapered toe The gradual reduction in girth of the toe from proximal to distal. tmpxe7fu0cj_hp_relaxed.owl Tapering toes|Tapered toe UMLS:C4021167 hecht 2012-02-12T12:41:30Z HP:0008088|HP:0200089 human_phenotype owl:Class N4952bd41fe1349ac99447126782d6fe9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne9ee81755ab2428cab5a0e8bb253e67a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N712c356b89f648fcb821b4d4d8a63057 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:25508 biolink:NamedThing neuraminic acids tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class N704e5823fd904603bab58eb31c0cd0d3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0041157 biolink:NamedThing Fractured larynx A partial or complete breakage of the larynx. tmpxe7fu0cj_hp_relaxed.owl bone larynx owl:Class N649bf04060264e81895bb19d14f65bb0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001891 biolink:NamedThing ovate A spheroid quality inhering in a bearer by virtue of the bearer's exhibiting a continuous convex surface with an axis of symmetry and one axis longer than the other; egg-shaped. tmpxe7fu0cj_hp_relaxed.owl eccentric|ovoid|oval|egg-shaped quality owl:Class PATO:0000946 biolink:NamedThing oblong A shape quality inhering in a bearer by virtue of the bearer's having a somewhat elongated form with approximately parallel sides. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class Nd0f8f0839f3d4c0891e2928564c4e61e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4aa94374653547c89821552af563d573 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2c153eb7b2084994b072fa674e938342 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N38e3e2a3a62e4118be7707059130f307 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002446 biolink:NamedThing Astrocytosis Proliferation of astrocytes in the area of a lesion of the central nervous system. tmpxe7fu0cj_hp_relaxed.owl Increase in astrocyte number MSH:D005911|SNOMEDCT_US:81415000|UMLS:C3887640 human_phenotype owl:Class N4cc266946ff6477ba9c22f7eb3ec6ec8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030162 biolink:NamedThing Glomerulomegaly Abnormally large size of glomeruli. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022604 Glomerulomegaly is a histologic finding that can be present in idiopathic pulmonary hypertension, congenital cyanotic heart disease, morbid obesity associated with sleep apnea syndrome, sickle cell disease, and polycythemic states. owl:Class N0cb93dabde1141c5a59efae8729f123e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfaabafe1d3e94cef9e63399f4482c123 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N613cecedd5144a5b9ae0d39dd20e710c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N45f3915d60c34bd797a9e244f96a0b76 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N04a850a6938b4a7ba534c7c801283dfc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7323b8d2bdfb4393be93f91f42c25780 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N11b8fa52b4ef4a2b9db62368271c6fd9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8f218350881c4cba8426b82995e360d0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc937b692c8024a01bfa283a0770526f0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N995f42762d874d44aaff4bde989ff6e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6058e0a80f89465f80ae6af59c6430aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc326988942cc4355882a573daf87c51d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100598 biolink:NamedThing Pulmonary edema Fluid accumulation in the lungs. tmpxe7fu0cj_hp_relaxed.owl Lung oedema|Excess fluid in lungs|Pulmonary oedema|Lung edema|Wet lung UMLS:C0034063|SNOMEDCT_US:19242006|MSH:D011654 doelkens 2010-12-27T05:10:09Z human_phenotype owl:Class N7aed19ac7e2b40b98ca14eeefa9b1548 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf14b9da54f0f416291ff4405469fcc9c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0a345982fcdb458d8b03f51b3b368961 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nadaaa544d37742f897688b97eb547b57 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N74bc84543a1c4dd8a39f12a351cc72c0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012475 biolink:NamedThing skeleton of pectoral complex The collection of all skeletal elements in a pectoral complex - i.e. the combination of free limb or fin plus pectoral girdle. tmpxe7fu0cj_hp_relaxed.owl skeleton of anterior limb/fin and girdle|bones of upper limb|upper limb skeleton|pectoral complex skeleton|set of bones of upper limb|ossa membri superioris FMA:24139 uberon owl:Class N3b1bb461aaf74d8faae26156581e83cf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0071377 biolink:NamedThing cellular response to glucagon stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucagon stimulus. tmpxe7fu0cj_hp_relaxed.owl mah 2009-12-11T03:25:07Z biological_process owl:Class Ne86d5c83852e48c38057f9c67944035d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N52687a784e2a49d3a4ed746431c2175b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:000001014 biolink:NamedThing receptor-type tyrosine-protein phosphatase C isoform CD45RABC A receptor-type tyrosine-protein phosphatase C that is a translation product of some mRNA giving rise to a protein with the amino acid sequence represented by UniProtKB:P08575-3 or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl PTPRC/iso:CD45RABC|CD45R|B220|CD45RABC Category=sequence. Requested by=CL. Note: This isoform includes the region encoded by the variable exons 4(A), 5(B), and 6(C). protein owl:Class UBERON:0006813 biolink:NamedThing nasal skeleton Structural framework that provides support to the nasal sacs and ducts. tmpxe7fu0cj_hp_relaxed.owl skeleton of nose AAO:0000320|FMA:60116 uberon owl:Class N7bc43730459d422fbca546826d8e7338 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0048280 biolink:NamedThing vesicle fusion with Golgi apparatus The joining of the lipid bilayer membrane around a vesicle to the lipid bilayer membrane around the Golgi. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010477 biolink:NamedThing Aplasia of the bladder Aplasia (absence) of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl Absent bladder UMLS:C4023812 peter 2009-09-15T10:10:19Z human_phenotype owl:Class Nbcd22a7195df4cb49d00864cf9d38536 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N24bebe87e3854e8698c7e631d3f6f433 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006986 biolink:NamedThing Upper limb spasticity tmpxe7fu0cj_hp_relaxed.owl Uncontrollable movement in upper arms UMLS:C1273957|SNOMEDCT_US:394680009 owl:Class N69a99d59d0154b45a6b01f6588d131d5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N27f13a7544a3488385c11745cfbb2218 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4440aa4110414d79a9e3cf4856e565f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009881 biolink:NamedThing anterior lateral plate mesoderm tmpxe7fu0cj_hp_relaxed.owl ALPM ZFA:0005041|TAO:0005041|EFO:0003704 uberon owl:Class Ne5e5195f01354659a29697fdc6a63e55 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N77f6f1beaab84d3da93164825f2b7b57 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nea2437a8d66d43d4a4d78079ec0f4b7f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0041156 biolink:NamedThing Fractured orbit of skull A partial or complete breakage of the orbit of skull. tmpxe7fu0cj_hp_relaxed.owl bone orbit of skull owl:Class N35f05f99a9444cae897db0f1cae45fbf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N926c5e5698c34575bb2909f7c765b1b2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2e378404d0e74f7a98a2c9af7c449aff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4d4f2a3176a0453ea2a9e7cb275c9835 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7afcde3c72004bea8d2b6045f37981e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9f533aeb492c4e21a493158d18c6b42a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040087 biolink:NamedThing Abnormal blood folate concentration Any deviation from the normal concentration of folate in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of folate in blood|Abnormal serum folate UMLS:C4021037 Folate is an essential water-soluble vitamin (vitamin B9) that is found in green leafy vegetables, cereals, legumes, and fruit. As a major methyl group donor, it plays an important role in one-carbon metabolism and is involved in DNA, RNA, and protein synthesis, in addition to its significant role in energy production and normal cell division. Low blood folate concentration is associated with an increased risk for neural tube defects during pregnancy. HPO:skoehler owl:Class N90421050f74e4c4cb34b5cd5fd49f32a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3c639775030e4feaa5b37ac991a4ae7e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009625 biolink:NamedThing Contractures of the metacarpophalangeal joint of the thumb Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2108151 doelkens 2009-01-29T04:52:18Z human_phenotype owl:Class N533b53a62e1140f2a0c761a730355f6e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010909 biolink:NamedThing Abnormal circulating arginine concentration Any deviation from the normal concentration of arginine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of arginine metabolism UMLS:C4023659 Arginine is a charged, aliphatic amino acid. peter 2010-12-08T08:25:05Z human_phenotype owl:Class N3dc868f9d4c54727a57751e07ac12fe5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2fbea47da4344a34a1074d3f98141ec7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne89e6dac7e44436fb9d1973fee44adbd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003711 biolink:NamedThing brachiocephalic vein The left and right brachiocephalic veins in the upper chest are formed by the union of each corresponding internal jugular vein and subclavian vein. This is at the level of the sternoclavicular joint. These great vessels merge to form the superior vena cava. The brachiocephalic veins are the major veins returning blood to the superior vena cava. tmpxe7fu0cj_hp_relaxed.owl vena brachiocephalica|innominate trunk|brachiocephalic venous tree|innominate vein|venae anonyma|innominate veins|innomiate vein MESH:D016121|galen:BrachiocephalicVein|EHDAA:9868|UMLS:C0006095|OpenCyc:Mx4rvz3aUJwpEbGdrcN5Y29ycA|GAID:529|EHDAA2:0000182|FMA:4723|NCIT:C32816 http://upload.wikimedia.org/wikipedia/commons/9/9e/Gray1174.png uberon owl:Class Nbf434c68ecb54f0ca1de643f9733b3b7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000027 biolink:NamedThing smooth muscle cell neural crest derived A smooth muscle cell derived from the neural crest. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class N30b70f26bcd049368b5f31b4e458e0e4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf80b9c0fe0cb4e0fb3c66214c8a54c83 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6988efe788744ac38bcc9a1ea938b69b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006554 biolink:NamedThing Acute hepatic failure Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver. tmpxe7fu0cj_hp_relaxed.owl Acute liver failure SNOMEDCT_US:197270009|MSH:D017114|UMLS:C0162557|SNOMEDCT_US:235884008 HP:0006556 human_phenotype owl:Class N89d7cb2232684dbbb37284ec848ac734 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060561 biolink:NamedThing apoptotic process involved in morphogenesis Any apoptotic process that contributes to the shaping of an anatomical structure. tmpxe7fu0cj_hp_relaxed.owl apoptosis involved in development|morphogenetic apoptosis|apoptosis involved in morphogenesis dph 2009-04-28T09:17:27Z biological_process owl:Class Na58aabb4fb0b4e57b4197e8259611f03 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndff36ecf38904cfeb39506701195695c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011449 biolink:NamedThing Knee clonus Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes. tmpxe7fu0cj_hp_relaxed.owl Patellar clonus SNOMEDCT_US:54360005|UMLS:C0520823 peter 2012-03-18T05:11:32Z HP:0002325 human_phenotype owl:Class N6338b488c7384d728dd3b8f6d31dd4a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf9ba15a2da2e47a888bcd05ba0780da6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010626 biolink:NamedThing Anterior pituitary agenesis Absence of the anterior pituitary gland resulting from a developmental defect. tmpxe7fu0cj_hp_relaxed.owl Absent pituitary gland|Aplasia of the pituitary gland UMLS:C4021249 peter 2009-12-05T03:04:20Z human_phenotype owl:Class N47cb4083044c4d2db6a7edf01d1522af biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7a7264896ae743a4a5ec2fe1fd377aae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfe42e057394148a68b680fe59fb64e8a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0017648 biolink:NamedThing ventral body wall The ventral part of the body wall. tmpxe7fu0cj_hp_relaxed.owl anterior body wall FMA:86934|EMAPA:37984 uberon owl:Class GO:0060411 biolink:NamedThing cardiac septum morphogenesis The process in which the anatomical structure of a cardiac septum is generated and organized. A cardiac septum is a partition that separates parts of the heart. tmpxe7fu0cj_hp_relaxed.owl heart septum morphogenesis GO:0003280 biological_process owl:Class N62accf9218a640b6a7f19ed2b34baf4d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003942 biolink:NamedThing somatic sensory system The sensory system for the sense of touch and pain. tmpxe7fu0cj_hp_relaxed.owl system for detection of somatic senses|somatosensory system|somatic sensory system http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2887|Wikipedia:Somatosensory_system|NLXANAT:090818|EMAPA:37954 UBERON:0014511 uberon owl:Class The neural tissue involved in the transmission of sensory signals MP defines this in a may more appropriate to somatosensory cortex UBERON:0011877 biolink:NamedThing margin of tongue The lateral border that separates the dorsum from the inferior surface of the tongue on each side, the two borders meeting anteriorly at the apex.. tmpxe7fu0cj_hp_relaxed.owl margo linguae|tongue margin FMA:54650 uberon owl:Class UBERON:0007371 biolink:NamedThing superior surface of tongue The upper (superior) side of the tongue. tmpxe7fu0cj_hp_relaxed.owl dorsal surface of tongue FMA:54646 check superior/dorsal uberon owl:Class GO:0110151 biolink:NamedThing positive regulation of biomineralization Any process that activates or increases the frequency, rate or extent of biomineralization, the formation and deposition of mineral crystals by living organisms. tmpxe7fu0cj_hp_relaxed.owl positive regulation of biomineral formation|positive regulation of mineralization|positive regulation of mineralisation|positive regulation of biomineralisation kmv 2019-06-10T18:18:01Z biological_process owl:Class N1015162c0d0a4c4db7f8c18dc90c2d78 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009214 biolink:NamedThing Absent epiphysis of the middle phalanx of the 4th finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl Absent end part of the middle bone of the ring finger UMLS:C4024527 doelkens 2009-01-05T05:23:59Z human_phenotype owl:Class N9f4f07fa4f2848f09919c1e94d19bc58 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nded1f92882144c10b4d69ea025b491b2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0007113 biolink:NamedThing endomitotic cell cycle A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell. tmpxe7fu0cj_hp_relaxed.owl endomitosis Wikipedia:Mitosis#Endomitosis Note that this term should not be confused with 'abortive mitotic cell cycle ; GO:0033277'. Although abortive mitosis is sometimes called endomitosis, GO:0033277 refers to a process in which a mitotic spindle forms and chromosome separation begins. biological_process owl:Class HP:0011050 biolink:NamedThing Agenesis of permanent maxillary lateral incisor Agenesis of one or more upper lateral secondary incisor. tmpxe7fu0cj_hp_relaxed.owl Missing permanent upper lateral incisor|Failure of development of permanent maxillary lateral incisor|Missing permanent maxillary lateral incisor|Failure of development of permanent upper lateral incisor|Absence of permanent maxillary lateral incisor|Agenesis of permanent upper lateral incisor UMLS:C4023567|UMLS:C4280352 peter 2011-03-10T11:32:17Z human_phenotype owl:Class Nb6b29ff6fc04478984ca6a4e893f709f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HGNC:441 biolink:NamedThing ALPG (human) A protein coding gene ALPG in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class HP:0009272 biolink:NamedThing Aplasia/Hypoplasia of the 4th finger A small/hypoplastic or absent/aplastic 4th (ring) finger. tmpxe7fu0cj_hp_relaxed.owl Absent/small ring finger bone|Absent/underdeveloped ring finger bone UMLS:C4024478 doelkens 2009-01-07T04:01:26Z human_phenotype owl:Class N55e4ec37182a45e39b8d4124587e982a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011757 biolink:NamedThing Posterior pituitary hypoplasia Underdevelopment of the neurohypophysis. tmpxe7fu0cj_hp_relaxed.owl Neurohypophysis hypoplasia UMLS:C4023202 peter 2012-04-22T01:56:23Z human_phenotype owl:Class N2be9651b34574f889beb9ce7ee41fbb2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012615 biolink:NamedThing umbilical smooth muscle A smooth muscle tissue that is part of a umbilical cord. tmpxe7fu0cj_hp_relaxed.owl BTO:0001847 uberon owl:Class N158392b9abfc4d0d8e6d5fed83c6009d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N981a0932e02a48d397c87a0f7d64a290 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001443 biolink:NamedThing Abnormality of the gluteal musculature tmpxe7fu0cj_hp_relaxed.owl Abnormality of glutes UMLS:C4025782 peter 2008-04-07T10:31:00Z human_phenotype owl:Class Nc0ec2915a11c4c469a266379516ec271 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N555a8008f8a845a686a60397b527f885 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008208 biolink:NamedThing Parathyroid hyperplasia Hyperplasia of the parathyroid gland. tmpxe7fu0cj_hp_relaxed.owl Enlarged parathyroid glands SNOMEDCT_US:9092004|UMLS:C0271844 An absolute increase in the mass of the parenchymal cells of the parathyroid gland leading to an enlargement of the parathyroid glands. human_phenotype owl:Class N658af1e5c7434095bacf58a27f97bbea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6d04618271ab489f8d753a3f15d5a672 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3e945dcc27194d64a5165532af03817b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0043062 biolink:NamedThing extracellular structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. tmpxe7fu0cj_hp_relaxed.owl extracellular structure organisation|extracellular structure organization and biogenesis biological_process owl:Class N409ebb7c19e544989be57a289952d865 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003917 biolink:NamedThing Pointed humeral metaphysis tmpxe7fu0cj_hp_relaxed.owl Pointed wide portion of long bone of upper arm UMLS:C4025510 human_phenotype owl:Class Nf18172e6b5404455add19daf76acbd18 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0887501332af4a7b896ab1feb41c0b9b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008608 biolink:NamedThing Hypertrophic auricular cartilage tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857263 human_phenotype owl:Class Na4e77a497cb74647b81b9697fca56ae9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N63ade24488df48d2875a3a355afa4f94 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N56962d5f70424802b78a9d25806b4928 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0030097 biolink:NamedThing hemopoiesis The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. tmpxe7fu0cj_hp_relaxed.owl blood cell formation|haemopoiesis|blood cell biosynthesis|hematopoiesis Wikipedia:Haematopoiesis biological_process owl:Class HP:0410169 biolink:NamedThing Abnormal morphology of the shoulder musculature Any abnormality of the shoulder muscles. tmpxe7fu0cj_hp_relaxed.owl Muscle issues in the shoulder|Abnormality of the shoulder musculature 2018-05-01 17:39:54+00:00 owl:Class Ne0f84e8c8de444d084bbd58ad32a6eca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3311c040ce8645a49f70c158db1dee28 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060437 biolink:NamedThing lung growth The increase in size or mass of a lung. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N121f769b212c4a70a1fb07adf103055c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1904398 biolink:NamedThing positive regulation of neuromuscular junction development Any process that activates or increases the frequency, rate or extent of neuromuscular junction development. tmpxe7fu0cj_hp_relaxed.owl up regulation of neuromuscular junction stability|up regulation of neuromuscular junction development|positive regulation of neuromuscular junction stability|positive regulation of NMJ stability|up-regulation of neuromuscular junction stability|up-regulation of NMJ stability|activation of neuromuscular junction organization|activation of neuromuscular junction stability|upregulation of neuromuscular junction organization|up regulation of NMJ stability|upregulation of NMJ stability|positive regulation of neuromuscular junction organization|upregulation of neuromuscular junction stability|activation of NMJ stability|activation of neuromuscular junction development|up regulation of neuromuscular junction organization|upregulation of neuromuscular junction development|up-regulation of neuromuscular junction development|up-regulation of neuromuscular junction organization sl 2015-06-23T19:23:54Z biological_process owl:Class HP:0002756 biolink:NamedThing Pathologic fracture A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. tmpxe7fu0cj_hp_relaxed.owl Pathologic fractures|Spontaneous fractures|Spontaneous fracture SNOMEDCT_US:22640007|SNOMEDCT_US:268029009|UMLS:C0016663|MSH:D005598 HP:0005633 human_phenotype owl:Class N2299369624cf49fb80c08b16474f63f4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0036477 biolink:NamedThing somatodendritic compartment The region of a neuron that includes the cell body (cell soma) and dendrite(s), but excludes the axon. tmpxe7fu0cj_hp_relaxed.owl bf 2014-07-24T10:06:19Z cellular_component owl:Class N013f7df09d3a4687a8000c4745f632a2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N86e729718db348959d08f6e4c54af11e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009550 biolink:NamedThing endoderm of foregut-midgut junction An endoderm that is part of a foregut-midgut junction. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18403|EHDAA2:0000572 uberon owl:Class CHEBI:33292 biolink:NamedThing fuel An energy-rich substance that can be transformed with release of usable energy. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class UBERON:0003689 biolink:NamedThing sella turcica The sella turcica is a saddle-shaped depression in the sphenoid bone at the base of the human skull. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl Turkey Chair|turkish saddle|suprasellar MESH:D012658|GAID:231|NCIT:C12497|CALOHA:TS-2342|FMA:54709|UMLS:C0036609 http://upload.wikimedia.org/wikipedia/commons/3/35/Gray145.png for consistency with FMA we have a separate class for the cavity of the sella turcica uberon owl:Class HP:0012298 biolink:NamedThing Long middle phalanx of finger Increased length of the middle phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Long middle bone of finger UMLS:C4022960 peter 2013-04-12T05:46:43Z human_phenotype owl:Class Nb291264a325641bda32d343997c359c9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007457 biolink:NamedThing Prominent veins on trunk Prominent thoracic and abdominal veins. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024871 human_phenotype owl:Class N23a0ca1d7abd4057a66aca2c0f841a83 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005349 biolink:NamedThing Hypoplasia of the epiglottis Hypoplasia of the epiglottis. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic epiglottis UMLS:C1396772 HP:0008746 human_phenotype owl:Class N15fb3b8809eb410aae05cd422d75e57c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N85f49cfb43f3485bb6cb69bfacfb9998 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb67772041266428e979e6da5b214776c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb5def469fa894eaa9038c2b20e80b824 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N737387937d4246b6a524e64104e6b5c9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0031644 biolink:NamedThing Fusiform abdominal aortic aneurysm A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 14:14:11+00:00 peter owl:Class Ne79e350ba6e447a4bf7b79561915c69b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neb4f4742b3bf45f5addefb2e515bf2f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N61073a1e32554b11af21e2cbf281ab3c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb4594a05c12e471db02826be8b6b73e5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004161 biolink:NamedThing septum transversum A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm[VHOG]. tmpxe7fu0cj_hp_relaxed.owl transverse septum Wikipedia:Septum_transversum|EHDAA:736|SCTID:308819008|EMAPA:16318|UMLS:C0231004|EHDAA2:0001829|FMA:295593|NCIT:C34296|VHOG:0000019 uberon owl:Class A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm. [TFD][VHOG] In hagfishes a transverse septum extends upward from the ventral body wall posterior to the heart, partly separating an anterior pericardial cavity from a larger peritoneal cavity. (...) These basic relationships have not been modified by urodeles. The small pericardial cavity remains far forward where it is separated by a transverse septum from the principal coelom, which may now be called a pleuroperitoneal cavity because slender lungs are present. (...) The heart (of other tetrapods) is separated from the lungs (and liver if present) by more or less horizontal partitions that have their origin in the embryo as folds on the serous membrane of the right and left lateral body walls. These grow out to join in the midline of the body. They are called lateral mesocardia (birds) or pleuropericardial membranes. Posteriorly they join the transverse septum to form the adult pericardial membrane, or pericardium. (...) In their partitioning of their coelom, embryonic mammals resemble first early fishes (incomplete partition, posterior to heart, consisting of the transverse septum) and then reptiles (pericardium derived from transverse septum and pleuropericardial membranes) Mammals then separate paired pleural cavities from the peritoneal cavity by a diaphragm. The ventral portion of this organ comes from the transverse septum. The dorsal portion is derived from the dorsal mesentery and from still another pair of outgrowths from the lateral body wall, the pleuroperitoneal membranes.[well established][VHOG] The cranial part of the septum transversum gives rise to the central tendon of the diaphragm and is the origin of the myoblasts that invade the pleuroperitoneal folds resulting in the formation of the muscular diaphragm. The caudal part of the septum transversum is invaded by the hepatic diverticulum which divides within it to form the liver and thus gives rise to the ventral mesentery of the foregut. in EHDAA2 this is divided into mesenchymal portion and hepatic diverticulum N7091b293f7fa4a0db0f8537fc0b05bc1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012437 biolink:NamedThing epithelial-mesenchymal boundary An anatomical line that adjacent_to a epithelium and adjacent_to a mesenchyme. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0006640 biolink:NamedThing Multiple rib fractures More than one fracture of the ribs. tmpxe7fu0cj_hp_relaxed.owl Multiple rib fractures UMLS:C0272567|SNOMEDCT_US:1261007 human_phenotype owl:Class N48e618e86b214389a2025b223bf62127 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0002045 biolink:NamedThing dendritic A branched quality inhering in a bearer by virtue of the bearer's having smaller branches arising from larger branches. Resembling a tree in branching structure. tmpxe7fu0cj_hp_relaxed.owl dendroid|dendroidal|dendriform 2009-02-15T08:11:41Z quality owl:Class UBERON:0003379 biolink:NamedThing cardiac muscle of right atrium A portion of cardiac muscle tissue that is part of a right atrium [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl myocardium of right atrium|textus muscularis of myocardium of right atrium|right atrium myocardium|cardiac muscle tissue of heart right atrium|textus muscularis of myocardium of right atrium of heart|cardiac muscle of cardiac right atrium|cardiac muscle tissue of right atrium|right atrium heart muscle|cardiac muscle of heart right atrium|textus muscularis of myocardium of right cardiac atrium|cardiac muscle tissue of right atrium of heart EHDAA2:0004155|VHOG:0001227|EMAPA:17326|SCTID:362018002|FMA:7282 uberon owl:Class Ndb0825fbcc134e84af87147e6a99000f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002491 biolink:NamedThing Spasticity of facial muscles Spasticity of one or more muscles innervated by the facial nerve. tmpxe7fu0cj_hp_relaxed.owl Increased stiffness of facial muscles|Increased tone of facial muscles|Spasticity of the facial muscles UMLS:C1853404|UMLS:C4280570|UMLS:C4280571 Spasticity of facial muscles can result in slow oral movements that are imprecise and require a lot of effort. HP:0000313 owl:Class N4d4a85ed9f9f468684094a4727e3b67c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncd10602dc33d45019e26aa4ce612e860 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012485 biolink:NamedThing cloacal villus tmpxe7fu0cj_hp_relaxed.owl cloacal villi uberon owl:Class HP:0500258 biolink:NamedThing Abnormal carbon dioxide level in cord blood Abnormal amount of carbon dioxide in umbilical cord blood tmpxe7fu0cj_hp_relaxed.owl Abnormal CO2 level in cord blood|Abnormal umbilical cord blood levels of carbon dioxide 2019-04-23 17:10:09+00:00 owl:Class N2f1dfbba35db494095e5c6dbbcaf5c64 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011249 biolink:NamedThing appendicular skeletal system Subdivision of the skeletal system which consists of the appendicular skeleton plus associated joints. tmpxe7fu0cj_hp_relaxed.owl VSAO:0000306|FMA:7484|VHOG:0001666 uberon https://github.com/obophenotype/uberon/wiki/Appendages-and-the-appendicular-skeleton owl:Class Skeletal system which consists of the appendicular skeleton plus associated joints.[VSAO] N554ff65d50964d7ba1bebcdb88c60495 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N25cdea46e6c34462b505e91d844e3cc0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0010463 biolink:NamedThing mesenchymal cell proliferation The multiplication or reproduction of cells, resulting in the expansion of a mesenchymal cell population. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0032288 biolink:NamedThing myelin assembly The process in which the wraps of cell membrane that constitute myelin are laid down around an axon in the central or peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl myelin formation biological_process owl:Class N9844db169506484c9e5fc4a149af86a0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N041c011feb004ad1b6852f661f15897b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0048087 biolink:NamedThing positive regulation of developmental pigmentation Any process that increases the frequency, rate or extent of the developmental process that results in the deposition of coloring matter in an organism. tmpxe7fu0cj_hp_relaxed.owl stimulation of developmental pigmentation|activation of developmental pigmentation|upregulation of developmental pigmentation|up regulation of developmental pigmentation|up-regulation of developmental pigmentation biological_process owl:Class N7c84764ea72f4b54b76ff65a2ca4a9ef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012776 biolink:NamedThing Abnormal ciliary body morphology A structural anomaly of the ciliary body. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the ciliary body UMLS:C4022726 peter 2014-04-07T04:00:10Z human_phenotype owl:Class Na13b20af177e444e854413d3a0fb6075 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc2f3d37ae5f6448181ff76a705314c9b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000808 biolink:NamedThing DN4 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. tmpxe7fu0cj_hp_relaxed.owl DN4 cell|double negative 4|DN4 alpha-beta immature T-lymphocyte|DN4 alpha-beta immature T lymphocyte|early cortical thymocyte|DN4 immature T cell|T.DN4.th|DN4 immature T-cell Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and beginning to rearrange the T cell receptor alpha chain. There is growing evidence that molecular markers characterizing double negative thymocytes are different across species, especially in mouse versus human thymus. If in doubt, please consider using CL:0002489 'double negative thymocyte'. cell owl:Class Nfb3d031ea5f040e2b5d98cdb146e79d9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6073c23fc1d84d0ebfbb819ff625025d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb4b957ef399d4dc687c664f668785021 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N375d81e46cee41d9bf11d44213e7232f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na3dac65d9c1f4c8f903801c42544a429 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008573 biolink:NamedThing lateral crico-arytenoid The lateral cricoarytenoid (also anterior cricoarytenoid) muscles extend from the lateral cricoid cartilage to the ipsilateral arytenoid cartilage. By rotating the arytenoid cartilages medially, these muscles adduct the vocal cords and thereby close the rima glottidis, protecting the airway. (Their action is antagonistic to that of the posterior cricoarytenoid muscles. ) The lateral cricoarytenoid muscles receive innervation from the recurrent laryngeal branch of the vagus nerve (CN X). tmpxe7fu0cj_hp_relaxed.owl musculus cricoarytenoideus lateralis|lateral cricoarytenoideus|cricoarytænoideus lateralis muscle|lateral cricoarytenoid|cricoarytænoideus lateralis|lateral cricoarytenoid muscle|cricoarytaenoideus lateralis|cricoarytaenoideus lateralis muscle FMA:46579 http://upload.wikimedia.org/wikipedia/commons/3/34/Musculuscricoarytenoideuslateralis.png uberon owl:Class N4af3a645291d43c2a824ee9e27cff955 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:2001214 biolink:NamedThing positive regulation of vasculogenesis Any process that activates or increases the frequency, rate or extent of vasculogenesis. tmpxe7fu0cj_hp_relaxed.owl positive regulation of vascular morphogenesis yaf 2011-11-15T01:22:39Z biological_process owl:Class GO:0001570 biolink:NamedThing vasculogenesis The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes. tmpxe7fu0cj_hp_relaxed.owl vascular morphogenesis Wikipedia:Vasculogenesis biological_process owl:Class Na3f218f121a447eca364b2fb4382de81 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009570 biolink:NamedThing Bullet-shaped middle phalanx of the 2nd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped middle bone of index finger UMLS:C4024287 doelkens 2009-01-28T05:10:24Z human_phenotype owl:Class N230aeeccf9774613ba5aa8f1f582f894 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf27c419d6c84437ea1f74653bb2b9946 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6d9f16fab7eb4d61be18f27af35ec3eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:36242 biolink:NamedThing 3-(4-hydroxyphenyl)pyruvate A 2-oxo monocarboxylic acid anion obtained by removal of a proton from the carboxylic acid group of 3-(4-hydroxyphenyl)pyruvic acid. tmpxe7fu0cj_hp_relaxed.owl p-hydroxyphenylpyruvate|4-Hydroxyphenylpyruvate|3-(p-hydroxyphenyl)pyruvate|3-(4-hydroxyphenyl)pyruvate|HPP|3-(4-Hydroxyphenyl)pyruvate|3-(4-hydroxyphenyl)-2-oxopropanoate -1 C9H7O4 InChI=1S/C9H8O4/c10-7-3-1-6(2-4-7)5-8(11)9(12)13/h1-4,10H,5H2,(H,12,13)/p-1 KKADPXVIOXHVKN-UHFFFAOYSA-M 179.14950 179.03498 Oc1ccc(CC(=O)C([O-])=O)cc1 PMID:11948155|UM-BBD_compID:c0235|PMID:14593448|Beilstein:3950858|Reaxys:3950858|KEGG:C01179 CHEBI:11725|CHEBI:12016|CHEBI:594665|CHEBI:20425|CHEBI:11727 chebi_ontology owl:Class N08f03a3fa3594a73b32bf4d917c3f3fc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8af7ed15adf24cc39deb59096dc06bc0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nad584fba328e444d92c4012073b4d675 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:33888 biolink:NamedThing cobalt molecular entity tmpxe7fu0cj_hp_relaxed.owl cobalt compounds|cobalt molecular entities|cobalt molecular entity chebi_ontology owl:Class N869c0e7521af4c9aa85b926e44ae3d06 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naf11fd456bf8415ba55d08942a7bd9e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:60924 biolink:NamedThing keratan sulfate A sulfated glycosaminoglycan, a linear polymer that consists of the repeating disaccharide [3)-beta-Gal-(1->4)-beta-GlcNAc-(1->] and containing sulfo groups located at random positions. tmpxe7fu0cj_hp_relaxed.owl keratan sulfates|keratosulfate chebi_ontology owl:Class CHEBI:45630 biolink:NamedThing 4-oxopentanoic acid An oxopentanoic acid with the oxo group in the 4-position. tmpxe7fu0cj_hp_relaxed.owl levulinic acid|3-ketobutane-1-carboxylic acid|levulic acid|3-acetylpropionic acid|LAEVULINIC ACID|gamma-ketovaleric acid|beta-acetylpropionic acid|4-ketovaleric acid|Laevulinsaeure|Levulinsaeure|4-oxopentanoic acid|4-oxovaleric acid|LEVA 0 C5H8O3 InChI=1S/C5H8O3/c1-4(6)2-3-5(7)8/h2-3H2,1H3,(H,7,8) JOOXCMJARBKPKM-UHFFFAOYSA-N 116.11522 116.04734 CC(=O)CCC(O)=O HMDB:HMDB0000720|PMID:23627123|PMID:16662002|DrugBank:DB02239|Wikipedia:Levulinic_acid|PDBeChem:SHF|Reaxys:506796|Beilstein:506796|PMID:19246769|Gmelin:164703|CAS:123-76-2|PMID:13215009|LIPID_MAPS_instance:LMFA01060006 CHEBI:45628|CHEBI:39149 chebi_ontology owl:Class HP:0009933 biolink:NamedThing Narrow naris Slender, slit-like aperture of the nostril. tmpxe7fu0cj_hp_relaxed.owl Thin nostrils|Naris, slit-like|Narrow nares|Thin nares|Narrow nostrils|Small nostrils|Naris, narrow|Collapsed nostrils|Slit-like nostrils UMLS:C4280390|UMLS:C1849366|SNOMEDCT_US:249336003|UMLS:C0426436|UMLS:C0426439|SNOMEDCT_US:249339005 peter 2009-05-10T10:35:51Z human_phenotype owl:Class N927da3c663ea4ea583c62d6d934bd66d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040208 biolink:NamedThing Elevated CSF biopterin level Increased concentration of biopterin in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073156 PhenoTips:CHum owl:Class N07fc10d5486a4548bc91b15f352bf015 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N185ab6e24ea34f978294d981fe44c9aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2814769decd043b2b0bf0dbffe5a06e1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100577 biolink:NamedThing Urinary bladder inflammation Inflammation of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl Urinary bladder inflammation|Cystitis of the urinary bladder UMLS:C0010692|MSH:D003556|SNOMEDCT_US:38822007 doelkens 2010-12-27T12:49:16Z human_phenotype owl:Class Nf9020aec82654830b062eaeb1fe514f6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030243 biolink:NamedThing Hepatic vein thrombosis An obstruction in the veins of the liver caused by a blood clot (thrombosis). tmpxe7fu0cj_hp_relaxed.owl Blood clot in liver vein|Hepatic venous thrombosis MSH:D006502|SNOMEDCT_US:38739001|UMLS:C0019154 owl:Class N7d6dd3cef7174f349cba70477a1d79e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc5d3374e17ad453282ace4599afae393 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000789 biolink:NamedThing Infertility tmpxe7fu0cj_hp_relaxed.owl Infertility UMLS:C0021359|SNOMEDCT_US:8619003|SNOMEDCT_US:15296000|MSH:D007246 human_phenotype owl:Class Nf46cceffb9c543c68c4992d096d09b41 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N51fbd46a0b494e7c8bac227deb0e49b4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:61697 biolink:NamedThing fatty acid derivative Any organic molecular entity derived from a fatty acid. tmpxe7fu0cj_hp_relaxed.owl FA derivatives|fatty acid derivatives|FA derivative chebi_ontology owl:Class N2da7b52b62df45a7a81d154124c6b8cc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000274 biolink:NamedThing Small face A face that is short (HP:0011219) and narrow (HP:0000275). tmpxe7fu0cj_hp_relaxed.owl Short and narrow face|Small facies|Small face|Hypoplasia of face|Microface|Microfacies|Facial hypoplasia UMLS:C1855538 This term represents a combination of two terms, short face and narrow face. human_phenotype owl:Class Nfb331b74ff004ba186b4b7d43ffa7a77 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N37904a75467c407e8f993898216d452e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N94de8666902440438454f57c41495feb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndfc0a32a744c40c3bf354cc53d9930fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6b058879fead45b894a26752a9910164 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N152037c6e3bc4870b1803528d3f71da1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd557c20cee364770ae23d2a960784792 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:48944 biolink:NamedThing isobutyrate A branched, short-chain, saturated fatty acid anion; the conjugate base of isobutyric acid, formed by deprotonation of the carboxylic acid group. tmpxe7fu0cj_hp_relaxed.owl isobutanoate|methylpropanoate|2-methylpropionate|isobutyric acid anion|iPrCO2 anion|2-methylpropanoate|i-butyrate|2-methylpropanoic acid, ion(1-)|Isobutyrat -1 C4H7O2 InChI=1S/C4H8O2/c1-3(2)4(5)6/h3H,1-2H3,(H,5,6)/p-1 KQNPFQTWMSNSAP-UHFFFAOYSA-M 87.09718 87.04515 CC(C)C([O-])=O Gmelin:324364|UM-BBD_compID:c0383|MetaCyc:ISOBUTYRATE|CAS:5711-69-3|Beilstein:3903644|Reaxys:3903644 CHEBI:11627|CHEBI:25334 chebi_ontology owl:Class Nfcaf5a03ccf04c93a6d6c9dfe73fa599 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8fe3862615d948198212391de5bcccfa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004997 biolink:NamedThing Multicentric ossification of proximal humeral epiphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857192 human_phenotype owl:Class N87318ddb954c400da0874ba7c055503c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003370 biolink:NamedThing Flat capital femoral epiphysis An abnormal flattening of the proximal epiphysis of the femur. tmpxe7fu0cj_hp_relaxed.owl Flat capital femoral epiphyses|Flattened proximal femoral epiphyses|Flat proximal femoral epiphyses|Flat end part of innermost thighbone|Flat femoral capital epiphyses UMLS:C1842155 HP:0006393 human_phenotype owl:Class N22164379ada041c1bb77929fa673a762 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N75cb9f27845341449a64a903ff9599b1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008247 biolink:NamedThing Euthyroid hyperthyroxinemia An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease. tmpxe7fu0cj_hp_relaxed.owl Asymptomatic hyperthyroxinemia UMLS:C4021549 Any functional abnormality of the thyroid gland and the systems that control its rate of production of thyroid hormone (hypothalamic-pituitary-thyroid axis) and the peripheral reactivity to thyroid hormone. HP:0008212 human_phenotype owl:Class N16049b45d57a4488a3dcaf5e2ddabb73 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001585 biolink:NamedThing anterior vena cava A vein that carries deoxygenated blood from the upper half of the body into the right atrium of the heart. tmpxe7fu0cj_hp_relaxed.owl cranial vena cava|vena cava superior|superior caval vein|superior vena cava|precava|vena maxima NCIT:C12816|EHDAA2:0001962|MA:0000481|MESH:D014683|BTO:0002683|UMLS:C0042459|GAID:549|EHDAA:8726|FMA:4720|galen:SuperiorVenaCava|EMAPA:18417|VHOG:0001195 http://upload.wikimedia.org/wikipedia/commons/b/b4/Venenwinkel.png uberon owl:Class Phylogenetic modifications within this basic pattern of arteries and veins are largely correlated with functional changes. In the transition from water to land, gills gave way to lungs, accompanied by the establishment of a pulmonary circulation. In some fishes and certainly in tetrapods, the cardinal veins become less involved in blood return. Instead, the composite, prominent postcava (posterior vena cava) arose to drain the posterior part of the body and the precava (anterior vena cava) developed to drain the anterior part of the body.[well established][VHOG] The mouse has both left and right anterior vena cava. adult humans only have a right. Postnatally the left regresses and becomes non-functional (Wessels and Sedmera 2003). In the mouse, The right pulmonary vein passes dorsal to the right superior vena cava, the left pulmonary dorsal to the left superior vena cava (Biology of the Laboratory Mouse, Green). N389d0fb13f42401aa6854509864ced66 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc4b95772c72d4ec983387f4a7fdbf00d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6e9e807b5e484d26a31bfd796863365b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1c62f37a6d054ea9967a2d273c279df6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N68bfe3e8d20d423f84d3605d94317e5b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007413 biolink:NamedThing Nevus flammeus of the forehead Naevus flammeus localised in the skin of the forehead. tmpxe7fu0cj_hp_relaxed.owl Port-wine stain on forehead UMLS:C1848850 human_phenotype owl:Class N786a6cae9ac14c29b188c3d560c0d3ed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N449728976ce24c34bd0cd55cd9d06b65 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N22ce9aa6d44945cdac584ae7ff94f41d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1845938e371940f0ad93d58e1b45bcc7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne0973467d37e466097b3996d01957237 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0025625 biolink:NamedThing Elevated proportion of CD4+ effector memory T cells An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype. tmpxe7fu0cj_hp_relaxed.owl Increased proportion of CD4+ effector memory T cells|Increased proportion of effector CD4-positive, alpha-beta T cells|Increased proportion of CD4-positive effector memory T cells 2019-04-09 00:13:18+00:00 HPO:probinson owl:Class Ne0511d5525c0425daef5381dedd97e75 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000900 biolink:NamedThing Thickened ribs Increased thickness (diameter) of ribs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0426820|SNOMEDCT_US:249699000 human_phenotype owl:Class N3d9751d4cfb1445fb0f20f3874da9374 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb9ac8921c6eb48e1b2a77520678e3690 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne9b326b8a1534fe4ab2bd2870ef56658 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4e7fa610b10b4341a3e757f67241e4df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0d469899bfec430ba4b50d98695483be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015787 biolink:NamedThing upper respiratory conduit Any anatomical conduit which is part of the upper respiratory tract. tmpxe7fu0cj_hp_relaxed.owl respiratory conduit FMA:265132 uberon owl:Class Anatomical cluster which consists a segment of the upper respiratory tract[FMA:265132]. N65cff06b77ae4b7380b0082f730fd12b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012081 biolink:NamedThing patella pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a patella. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18510 uberon owl:Class UBERON:0008824 biolink:NamedThing duct of epididymis Any duct branching of of the main epididymis duct. tmpxe7fu0cj_hp_relaxed.owl epididymal duct|epididymis duct UMLS:C0458632|NCIT:C32484|EMAPA:36525|MA:0001735|FMA:18297 uberon owl:Class HP:0000825 biolink:NamedThing Hyperinsulinemic hypoglycemia An increased concentration of insulin combined with a decreased concentration of glucose in the blood. tmpxe7fu0cj_hp_relaxed.owl Hyperinsulinemia hypoglycemia|Hyperinsulinaemic hypoglycaemia UMLS:C1864903 Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar. human_phenotype owl:Class Nab13f03e5abd4597b78459cfefdda838 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1ba71d9daf6f4f96b8f74c8a9039f12c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N762f5812587f4d2a8ba38b94b90b0a9e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2fddbc20251042c3a0887374a27f373e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0033342 biolink:NamedThing negative regulation of collagen binding Any process that stops, prevents, or reduces the frequency, rate or extent of collagen binding. tmpxe7fu0cj_hp_relaxed.owl downregulation of collagen binding|down-regulation of collagen binding|inhibition of collagen binding|down regulation of collagen binding biological_process owl:Class UBERON:0011091 biolink:NamedThing skeleton of left pelvic girdle A skeleton of pelvic girdle that is part of a left pelvic girdle region. tmpxe7fu0cj_hp_relaxed.owl FMA:87594 uberon owl:Class Nbffa333d24a047828225befe6bf97d4e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012403 biolink:NamedThing Decreased urine alpha-ketoglutarate concentration A lower than normal concentration of 2-oxoglutaric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Decreased urinary 2-oxoglutarate UMLS:C4022914 Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. peter 2013-11-09T03:49:45Z human_phenotype owl:Class Nda1d57be770c45ad8dcff8f83ac215a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N913e4801343843f6a4a50930862006ad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003697 biolink:NamedThing abdominal wall The tissues that surround the organs that are present within the abdominal cavity. The abdominal wall tissue is composed of layers of fat, parietal peritoneum, fascia, and muscles. tmpxe7fu0cj_hp_relaxed.owl paries abdominalis|layers of the abdominal wall|abdominal wall proper|wall of abdomen proper|wall of abdomen MESH:A01.047.050|UMLS:C0836916|SCTID:181613000|GAID:26|Wikipedia:Abdominal_wall|NCIT:C77608|FMA:10429|FMA:259054|EMAPA:37064 http://upload.wikimedia.org/wikipedia/commons/e/ee/Scheme_body_cavities-en.svg uberon owl:Class GO:0030432 biolink:NamedThing peristalsis A wavelike sequence of involuntary muscular contraction and relaxation that passes along a tubelike structure, such as the intestine, impelling the contents onwards. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Peristalsis biological_process owl:Class Nba01324130ac4467a8d6218c32166412 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N60dd534e2be14c28b5d2aa367dc3d4e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012356 biolink:NamedThing pedal acropodium region The segment of the pes that is distal to the metatarsal region and consists of the pedal digits (toes). tmpxe7fu0cj_hp_relaxed.owl toes|toes set|pedal acropodium region|acropodial forelimb segment|acropodial region of pes|set of toes|all toes|acropodial segment of pes|digits of foot FMA:70664 class refers to an entire limb segment, not just the bones uberon owl:Class N6faaaa593777425d9fb16a0f0395a715 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002116 biolink:NamedThing ileum The portion of the small intestine that extends from the jejunum to the colon. tmpxe7fu0cj_hp_relaxed.owl distal intestine|posterior intestine|intestinum ileum|lower intestine EMAPA:32764|OpenCyc:Mx4rvdcLHZwpEbGdrcN5Y29ycA|MIAA:0000282|galen:Ileum|EV:0100075|NCIT:C12387|AAO:0010403|CALOHA:TS-0472|XAO:0000237|FMA:7208|MAT:0000282|MESH:A03.492.411.620.484|GAID:315|UMLS:C0020885|EFO:0001334|BTO:0000620|MA:0000339|VHOG:0000647 http://upload.wikimedia.org/wikipedia/commons/3/3d/Illu_small_intestine.jpg TODO consider ZFA:0000706 posterior intestine, see also colon uberon owl:Class Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] ileal The ileum is the final section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms posterior intestine or distal intestine may be used instead of ileum.[Wikipedia:Ileum] UBERON:0005014 biolink:NamedThing mucosa of female urethra A mucosa that is part of a female urethra [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl organ mucosa of female urethra|mucous membrane of female urethra|female urethra mucous membrane|female urethra mucosa of organ|female urethra organ mucosa|mucosa of organ of female urethra|female urethra mucosa FMA:239940 uberon owl:Class CHEBI:27093 biolink:NamedThing tricarboxylic acid An oxoacid containing three carboxy groups. tmpxe7fu0cj_hp_relaxed.owl tricarboxylic acids|Trikarbonsaeure|Tricarbonsaeure 0 C3H3O6R 135.052 134.99296 Wikipedia:Tricarboxylic_acid chebi_ontology owl:Class HP:0001735 biolink:NamedThing Acute pancreatitis A acute form of pancreatitis. tmpxe7fu0cj_hp_relaxed.owl Pancreatitis, acute|Acute pancreatic inflammation SNOMEDCT_US:197456007|UMLS:C0001339 HP:0004512 human_phenotype owl:Class Nc424f2943a344fa9ae4acba3c9962335 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5c9e4cef26da42d5873cef171a4c17cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012608 biolink:NamedThing Hypermagnesiuria An increased concentration of magnesium the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2673443 peter 2014-01-17T11:38:51Z human_phenotype owl:Class Nc3b5ba69074743f0acafbcffb0cca0f3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000744 biolink:NamedThing Low frustration tolerance The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors. tmpxe7fu0cj_hp_relaxed.owl Intolerance to frustration UMLS:C0548883 owl:Class N62e85f6786124c62a7067b86566b2998 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na138014c795240eeba58db962b64bf28 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012351 biolink:NamedThing urachal lumen An anatomical space that is enclosed by a urachus. tmpxe7fu0cj_hp_relaxed.owl urachus lumen uberon owl:Class CL:0002521 biolink:NamedThing subcutaneous fat cell A fat cell that is part of subcutaneous adipose tissue. tmpxe7fu0cj_hp_relaxed.owl subcutaneous adipocyte tmeehan 2011-02-21T02:51:22Z cell owl:Class GO:1990874 biolink:NamedThing vascular associated smooth muscle cell proliferation The multiplication or reproduction of vascular smooth muscle cells, resulting in the expansion of a cell population. A vascular smooth muscle cell is a non-striated, elongated, spindle-shaped cell found lining the blood vessels. tmpxe7fu0cj_hp_relaxed.owl VSMC proliferation|vascular smooth muscle cell proliferation sl 2015-09-29T16:34:59Z biological_process owl:Class HP:0006692 biolink:NamedThing Short chordae tendineae of the tricuspid valve Abnormally short chordae tendineae of the tricuspid valve. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025001 The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve. human_phenotype owl:Class N012af9af5d52464f9325a52f5a2e1fc3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd9d491a8c32f4cdd825346e9e5ddb1ee biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7daed3f9c6d840febc1ed699461727f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011523 biolink:NamedThing Iris cyst An iris cyst is composed of a single cell layer of epithelium and is filled with fluid. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0271119|SNOMEDCT_US:37761009 peter 2012-04-06T09:05:29Z human_phenotype owl:Class N21d71178d3d64867bd2727de68293bf6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005254 biolink:NamedThing Unilateral chest hypoplasia tmpxe7fu0cj_hp_relaxed.owl Small chest on one side|Underdeveloped chest on one side UMLS:C1845576 human_phenotype owl:Class N99782f5ce3a94b9aa2d1a43efba2e4bc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500234 biolink:NamedThing Decreased CSF alanine concentration Abnormally decreased levels of alanine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Low alanine levels in cerebrospinal fluid 2019-02-25 20:55:37+00:00 owl:Class N76e0466ce01148b3b402c19562d7a9b0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0000998 biolink:NamedThing viscous tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0002474 biolink:NamedThing cerebellar peduncular complex A composite structure of the brain stem, which is subdivided into the superior cerebellar peduncle of pons, the decussation of superior cerebellar peduncle and the superior cerebellar peduncle of midbrain (MM)[NIF, based on NN]. tmpxe7fu0cj_hp_relaxed.owl corpus striatum (Savel'ev)|set of cerebellar peduncles|ganglia basales|cerebellar peduncles and decussations|cerebellar peduncles set|cerebellar peduncles|basal ganglia (anatomic)|cerebellum peduncles|pedunculi cerebellares http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=224|BAMS:cbp|BIRNLEX:970|FMA:77791|UMLS:C0228514|MBA:752 TODO - this requires work for making consistent with ABA, which strictly separates cerebellum from brainstem. in MA, cerebellar peduncle is part of both brainstem and cerebellar white matter. uberon owl:Class HP:0041044 biolink:NamedThing Low neutrophil alkaline phosphatase An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme. tmpxe7fu0cj_hp_relaxed.owl owl:Class N1b076134533943b2a8be2693279d02c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na4cb66d40913416b92f7fbc9bcd80ea4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb86e8b2727184616b4d96095515c7eae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:2001233 biolink:NamedThing regulation of apoptotic signaling pathway Any process that modulates the frequency, rate or extent of apoptotic signaling pathway. tmpxe7fu0cj_hp_relaxed.owl regulation of apoptotic signalling pathway pr 2011-11-24T01:20:49Z biological_process owl:Class Ndfa8605426c844c5b06e72a883467955 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N279dd46c3d4b4d839b6ba0219480d2a1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002557 biolink:NamedThing Hypoplastic nipples Underdevelopment of the nipple. tmpxe7fu0cj_hp_relaxed.owl Small nipples|Nipple hypoplasia SNOMEDCT_US:268290005|UMLS:C0432355 HP:0006652|HP:0003188|HP:0002560 human_phenotype owl:Class Nbf95efe2ac7f42bb8d3091e41cd4f5eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005334 biolink:NamedThing oral lamina propria A lamina propria that is part of a mucosa of oral region. tmpxe7fu0cj_hp_relaxed.owl lamina propria of oral mucosa EMAPA:26947 uberon owl:Class UBERON:0003343 biolink:NamedThing mucosa of oral region A mucosa that is part of a oral opening [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl oral opening organ mucosa|oral region mucous membrane|oral part of face mucosa of organ|subdivision of mouth mucous membrane|mucosa of oral part of face|mucosa of organ of subdivision of mouth|mucosa of organ of oral part of face|subdivision of mouth mucosa of organ|mucous membrane of oral opening|oral region mucosa of organ|mucous membrane of subdivision of mouth|mucosa of organ of oral region|mucous membrane of oral region|mucosa of organ of oral opening|oral region mucosa|organ mucosa of subdivision of mouth|oral opening mucosa of organ|subdivision of mouth organ mucosa|mucous membrane of oral part of face|subdivision of mouth mucosa|mucosa of oral opening|organ mucosa of oral part of face|oral part of face mucosa|organ mucosa of oral region|organ mucosa of oral opening|oral opening mucosa|mucosa of subdivision of mouth|oral opening mucous membrane|oral part of face mucous membrane|oral part of face organ mucosa|oral region organ mucosa SCTID:362083000|EMAPA:26937 uberon owl:Class Nceea4322700c4cfeab28afb5dfc3aacb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0f724d4bacbd4ac8993fa7ec77f19602 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003294 biolink:NamedThing gland of foregut A gland that is part of a foregut [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl foregut gland EHDAA2:0000567|EHDAA:950|VHOG:0000650|EMAPA:16557 uberon owl:Class N81da4b33b45b4d9b908706ac86753fc1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:1001609 biolink:NamedThing muscle fibroblast Fibroblast from muscle organ. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-0643 owl:Class HP:0012117 biolink:NamedThing Hyperalbuminemia Elevation in the concentration of albumin in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood albumin levels|High albumin|Hyperalbuminaemia UMLS:C1142113|SNOMEDCT_US:119248009 hecht 2012-09-16T05:15:41Z human_phenotype owl:Class Nf531620004904f22af17f596d270865c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3bf63a97d2c848398910cb70fa4a9fdd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000736 biolink:NamedThing Short attention span Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder. tmpxe7fu0cj_hp_relaxed.owl Easily distracted|Problem paying attention|Short attention span|Poor attention span SNOMEDCT_US:247762003|UMLS:C0262630 human_phenotype owl:Class N727968cdf80c484a8c3b69ce1ee2326f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002040 biolink:NamedThing bronchial artery A systemic artery that supplies the lung with with oxygenated blood. tmpxe7fu0cj_hp_relaxed.owl arteriae bronchiales|bronchial arterial tree|rami bronchiales partis thoracicae aortae SCTID:244247009|Wikipedia:Bronchial_artery|GAID:477|UMLS:C0006257|OpenCyc:Mx4r4sy0UiNbEd2AAAACs6hRXg|EMAPA:18608|FMA:68109|MA:0001923|MESH:D001981|NCIT:C32230 Although there is much variation, there are usually two bronchial arteries that run to the left lung, and one to the right lung. http://upload.wikimedia.org/wikipedia/commons/a/a7/Gray1032.png uberon owl:Class Nd2a18bbe70834742a11e5160b205f5ad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9dd75e37bfa34c5591f1e9c95b30ca7e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030278 biolink:NamedThing Hypoplastic vertebral pedicle Underdeveloped vertebral pedicle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022540 owl:Class Nbd75dabcd7cb48a28a4b635073103b8f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007414 biolink:NamedThing nucleus of midbrain tegmentum A nucleus of brain that spans a midbrain tegmentum. tmpxe7fu0cj_hp_relaxed.owl tegmental nucleus|tegmental nuclei FMA:258768|ZFA:0005577 this class groups together any nuclei in the tegmentum region, possibly including disparate structures across species UBERON:0012277 uberon owl:Class Ncfd15ddf24da4793b60972df24c7d69b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0032286 biolink:NamedThing central nervous system myelin maintenance The process in which the structure and material content of mature central nervous system myelin is kept in a functional state. tmpxe7fu0cj_hp_relaxed.owl myelin maintenance in central nervous system biological_process owl:Class N86cfee5bb4084d9d8bb5931ea257e891 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na5572f809baf4cc4bafef07a9676fce7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001428 biolink:NamedThing intermedium Endochondral carpal bone articulating with the ulnare and the radiale. tmpxe7fu0cj_hp_relaxed.owl os lunatum|lunate bone|semilunar bone|semilunate|lunate|os carpi intermedium|lunar|semilunar|intermediate carpal bone|intermedium EMAPA:37659|galen:Lunate|MA:0002556|GAID:181|MESH:A02.835.232.087.144.663|VSAO:0005040|NCIT:C12786|UMLS:C0036624|FMA:23712 http://upload.wikimedia.org/wikipedia/commons/5/50/Carpus.png uberon owl:Class articulating with the ulnare and the radiale[VSAO]. human articulations: radius proximally capitate and hamate distally scaphoid laterally triangular medially UBERON:0001427 biolink:NamedThing radiale Endochondral proximal carpal bone articulating with the radius. tmpxe7fu0cj_hp_relaxed.owl scaphoideum|os carpi radiale|navicular bone of manus|scaphoid bone|navicular of hand|os naviculare manus|navicular bone of hand|radial carpal bone|os scaphoideum|navicular of manus|scaphoid AAO:0000790|MESH:A02.835.232.087.144.650|GAID:180|UMLS:C0223724|galen:Scaphoid|OpenCyc:Mx4rwAwWe5wpEbGdrcN5Y29ycA|FMA:23709|NCIT:C12854|EMAPA:37660|MA:0002555 http://upload.wikimedia.org/wikipedia/commons/5/50/Carpus.png TODO - check AAO placement; in rodents this is fused with the lunate to make the scapholunate uberon owl:Class the bone of the hand located at the radial side of the carpus and which articulates with the radius, trapezium, trapezoideum, capitate, and lunate bones|One of two element that constitute the basal row of carpals. It articulates proximally with the radius, mesially with the ulnare (or pars intermedia of the ulnare when the ulnare is fused to the intermedium) and distally with the centrale (also recognized by some authors as element Y). This element originates from one or two condensation centers. Occasionally it may fuse to carpal 5(4), the ulnare, or other elements.[AAO] In reptiles, birds, and amphibians, this bone is instead commonly referred to as the radiale, because of its articulation with the radius[WP] UBERON:0007254 biolink:NamedThing intervertebral disk of thoracic vertebra An intervertebral disk that is part of a thoracic region of vertebral column. A thoracic intervertebral disk connects at least one thoracic vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a lumbar vertebra. tmpxe7fu0cj_hp_relaxed.owl intervertebral disc of thoracic region EMAPA:19489|FMA:10455 uberon owl:Class Nc0be71d103cc4e92bcd40f3e2a7bc9a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008843 biolink:NamedThing gubernaculum testis The fetal ligament attached to the inferior end of the epididymis and testis and, at its other end, to the bottom of the scrotum; it is present during, and is thought to guide, the descent of the testis into the scrotum and then atrophies. tmpxe7fu0cj_hp_relaxed.owl gubernaculum|male gubernaculum|Hunter's gubernaculum MA:0003248|BTO:0002813|FMA:20421|EMAPA:19089 uberon owl:Class The upper part of the gubernaculum degenerates; The lower part persists as the gubernaculum testis ('scrotal ligament'). This ligament secures the testis to the most inferior portion of the scrotum, tethering it in place and limiting the degree to which the testis can move within the scrotum[WP] Na9980d7557b542b0bba4014ec1c7b213 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7b6b3e8f90f54f1fa17a5e51c1030ee6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004116 biolink:NamedThing nerve of tympanic cavity A nerve that is part of a tympanic cavity [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nerve of middle ear cavity|anatomical cavity of middle ear nerve|cavity of middle ear nerve|tympanic cavity nerves|tympanic cavity nerve|middle ear anatomical cavity nerve|nerve of cavity of middle ear|nerve of middle ear anatomical cavity|middle ear cavity nerve|nerve of anatomical cavity of middle ear EMAPA:37777|MA:0001222 uberon owl:Class GO:1904172 biolink:NamedThing positive regulation of bleb assembly Any process that activates or increases the frequency, rate or extent of bleb assembly. tmpxe7fu0cj_hp_relaxed.owl up regulation of cell blebbing|up regulation of bleb assembly|activation of bleb assembly|upregulation of bleb assembly|up-regulation of bleb assembly|activation of cell blebbing|up-regulation of cell blebbing|positive regulation of cell blebbing|upregulation of cell blebbing als 2015-04-23T09:32:31Z biological_process owl:Class Nb67d2108597d46ff87be92e51ae94d2d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060438 biolink:NamedThing trachea development The process whose specific outcome is the progression of a trachea over time, from its formation to the mature structure. The trachea is the portion of the airway that attaches to the bronchi as it branches. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009952 biolink:NamedThing Complete duplication of the middle phalanx of the 2nd finger Complete duplication of the middle phalanx of index finger. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the middle bone of the index finger UMLS:C4024150 doelkens 2009-05-15T02:05:27Z human_phenotype owl:Class N1d272c177b6a42da920dc743090e45ae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0007009 biolink:NamedThing prechondroblast Skeletogenic cell that has the potential to develop into a chondroblast; and arises from neural crest, meseosdermal and notochordal and connective tissue cells. tmpxe7fu0cj_hp_relaxed.owl haendel 2012-06-27T10:44:01Z cell owl:Class N16769f2e438647fe8186d46bb8c5cb65 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nce9b77ce44ef4efaab6521159c8adb40 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000920 biolink:NamedThing Enlargement of the costochondral junction Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. tmpxe7fu0cj_hp_relaxed.owl Widened costochondral junction|Wide costochondral junctions|Enlarged costochondral junctions|Prominent costochondral junction|Costochondral thickening UMLS:C1857180 HP:0006620 human_phenotype owl:Class Nc86f4294994546caba7cad349235e3b5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne497bbfd119c4e569c8cbf746b6eebb9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0061056 biolink:NamedThing sclerotome development The progression of the sclerotome over time, from its initial formation to the mature structure. The sclerotome is the portion of the somite that will give rise to a vertebra. tmpxe7fu0cj_hp_relaxed.owl dph 2010-03-02T12:12:40Z biological_process owl:Class UBERON:5003632 biolink:NamedThing pedal digit 2 plus metapodial segment A subdivision of the autopod consisting of pedal digit 2 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpxe7fu0cj_hp_relaxed.owl pedal digit 2|pedal digit II plus metapodial segment|pedal digit 2 ray|pedal digit 2 ( phalanges plus metapodial) plus soft tissue|pedal digit 2 digitopodial subdivision this class represents a series of phalanges plus a metapodial element plus associated soft tissues. Instances of this class typically do not form a distinct unit. uberon owl:Class HP:0011800 biolink:NamedThing Midface retrusion Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of midface|Flat midface|Retrusive midface|Decreased size of midface|Midface, flat|Decreased projection of midface|Midface hypoplasia|Hypotrophic midface|Midface retrusion|Underdevelopment of midface|Midface deficiency|Small midface UMLS:C2673410|UMLS:C4280321|UMLS:C1853242|UMLS:C4280320 peter 2012-04-24T07:46:05Z HP:0040199 human_phenotype owl:Class N7b866930f0de4ed3b0aebf7ecf6d1537 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N76c61169e8144f8d81e5f73c41c76d7e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7af9b07c518a4b059f6346d3ae5ede24 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0014856 biolink:NamedThing skeletal muscle cell proliferation The multiplication or reproduction of skeletal muscle cells, resulting in the expansion of a cell population. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0100771 biolink:NamedThing Hypoperistalsis Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. tmpxe7fu0cj_hp_relaxed.owl Intestinal hypoperistalsis UMLS:C4020700|SNOMEDCT_US:77853002|UMLS:C0232475 doelkens 2011-06-07T11:53:08Z human_phenotype owl:Class N1847470bce804e8db15940c83da05c92 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0016597 biolink:NamedThing amino acid binding Binding to an amino acid, organic acids containing one or more amino substituents. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class Nd373b45577b942d49be666457db1abea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HsapDv:0000086 biolink:NamedThing adolescent stage Mature stage that refers to an adolescent who is over 13 and under 19 years old. tmpxe7fu0cj_hp_relaxed.owl teenager|13-18 years|teen human_developmental_stage 19.0 13.0 owl:Class GO:0072697 biolink:NamedThing protein localization to cell cortex A process in which a protein is transported to, or maintained in, the cell cortex. tmpxe7fu0cj_hp_relaxed.owl protein localisation to cell cortex mah 2012-04-11T01:16:33Z biological_process owl:Class Nddd413e289ad4a03a767f3b7b028f1ed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007240 biolink:NamedThing tunica adventitia of artery A tunica adventitia that is part of a artery. tmpxe7fu0cj_hp_relaxed.owl arterial adventitia|tunica externa (adventitia)(arteriae) EMAPA:36295|EV:0100030|SCTID:113261001|FMA:14274 uberon owl:Class HP:0031414 biolink:NamedThing High serum calcifediol An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3. tmpxe7fu0cj_hp_relaxed.owl High serum calcidiol|High serum 25-hydroxycholecalciferol 2017-09-12 01:49:36+00:00 peter owl:Class Nc2c280d7b3824931b9cf9ac8a47766fc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na22f1fade1484a52919c0c3aa7925ce3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HGNC:399 biolink:NamedThing ALB (human) A protein coding gene ALB in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class N799b9633611841368b023164425f26ea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc6036336ef38470e92e81cb6ddc0bdd1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N35cbe78ad8df4e278f52399b2d344618 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:35516 biolink:NamedThing cholestane tmpxe7fu0cj_hp_relaxed.owl cholestane 0 C27H48 InChI=1S/C27H48/c1-19(2)9-8-10-20(3)23-14-15-24-22-13-12-21-11-6-7-17-26(21,4)25(22)16-18-27(23,24)5/h19-25H,6-18H2,1-5H3/t20-,21?,22+,23-,24+,25+,26+,27-/m1/s1 XIIAYQZJNBULGD-LDHZKLTISA-N 372.67002 372.37560 [H][C@@]1(CC[C@@]2([H])[C@]3([H])CCC4CCCC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)CCCC(C)C CAS:14982-53-7|Beilstein:5334741|Wikipedia:Cholestane|LIPID_MAPS_instance:LMST01010000 chebi_ontology owl:Class N4e1756af661d49daa3eb5c8632efd5a3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nde56585eee404a0fbd58a0ac88316ae3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N74b87e665ffc42bda25e5059f2fe2ab9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9e8cd256e376427da5795ee1bc973e36 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001517 biolink:NamedThing skin of elbow A zone of skin that is part of a elbow [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl zone of skin of elbow|elbow zone of skin|elbow skin|zone of skin of cubital region|cubital region zone of skin NCIT:C52755|EMAPA:18051|UMLS:C0222213|MA:0000610|FMA:38250 UBERON:0003399 uberon owl:Class N187c7f34ae404537885fdc215600b29a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N956798572af646eb8801609ea2df1b01 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015870 biolink:NamedThing lymph node of head A lymph node that is part of a head. tmpxe7fu0cj_hp_relaxed.owl FMA:61212 uberon owl:Class Nc58d2d9be8424857a8d87229cb94e773 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N73da680b45564be7a6cbf4c55f8c2e11 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd74754c7c3074a1183cd5cef67c0f154 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100180 biolink:NamedThing Absent epiphysis of the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the middle bone of the 4th toe UMLS:C4022241 doelkens 2010-06-24T04:54:13Z human_phenotype owl:Class Nb2afc4b731154a57b60e19383c1b4b6e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0045001 biolink:NamedThing Abnormal ossification of the trapezium tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022409 HPO:skoehler owl:Class N6875e79d22294253b4aa483eea9fa1e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N98a5746ed4f3425491d3a25374afa48b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6c97bfff3d4c4d39b20809892dda9fb8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4e43558cfb1e428d828e74ffd0f7058e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8f35917eaeb74b148ed385f6e671b2cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N73bf298fd200485b919cae22e88dfec9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500006 biolink:NamedThing Urethritis Inflammation of the urethra. tmpxe7fu0cj_hp_relaxed.owl Urethritis is characterized by discharge, dysuria and/or urethral discomfort but may be asymptomatic. Common etiologies include gonococcal urethritis as well as infection by chlamydia trachomatis, mycoplasma genitalium, ureaplasma urealyticum, trichomonas vaginalis, anaerobes, herpes simplex virus, and adenovirus. owl:Class Nb1891df5a3d84332bb30dce74acf116a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc5cd0bd360a34cb9a6efbd0742ffb388 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008185 biolink:NamedThing Precocious puberty in males The onset of puberty before the age of 9 years in boys. tmpxe7fu0cj_hp_relaxed.owl Male precocious puberty|Early onset of puberty in males UMLS:C1859979 human_phenotype owl:Class Nb92cb2c3ae40468eb7ca03ded88fd800 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0016552 biolink:NamedThing phlegm Mucus produced in the respiratory tract. tmpxe7fu0cj_hp_relaxed.owl NCIT:C93171 uberon owl:Class N7e91ca5a98324a4fb1aa9e89a7a35959 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4691713701ad4c59bc8bdc8225d6239a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N68c2e30c73404982b9f8d5e27c1c54db biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N24f4b5cbef534f7194c6f06a174fbc72 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nffdcc75a4eae4c4aaf944f3636dd2377 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0100001 biolink:NamedThing regulation of skeletal muscle contraction by action potential Any action potential process that regulates skeletal muscle contraction. tmpxe7fu0cj_hp_relaxed.owl cjm 2015-04-02T04:13:19Z biological_process owl:Class GO:0003009 biolink:NamedThing skeletal muscle contraction A process in which force is generated within skeletal muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the skeletal muscle, the muscle contraction takes advantage of an ordered sarcomeric structure and in most cases it is under voluntary control. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0005798 biolink:NamedThing Golgi-associated vesicle Any vesicle associated with the Golgi complex and involved in mediating transport within the Golgi or between the Golgi and other parts of the cell. tmpxe7fu0cj_hp_relaxed.owl Golgi vesicle|vesicular component NIF_Subcellular:sao819927218 Note that this definition includes vesicles that are transiently associated with the Golgi. cellular_component owl:Class N4bee0b516a4843be9b6673a16a45026d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010157 biolink:NamedThing sphenoparietal suture The Sphenoparietal suture is the cranial suture between the sphenoid bone and the parietal bone. tmpxe7fu0cj_hp_relaxed.owl sphenoparietal suture of skull|sutura sphenoparietalis|spheno-parietal suture FMA:52945 http://upload.wikimedia.org/wikipedia/commons/2/2d/Gray164.png uberon owl:Class PR:P09923 biolink:NamedThing intestinal-type alkaline phosphatase (human) An intestinal alkaline phosphatase that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl IAP (human)|intestinal alkaline phosphatase (human)|hALPI|ALPI UniProtKB:P09923 Category=organism-gene. protein owl:Class HGNC:437 biolink:NamedThing ALPI (human) A protein coding gene ALPI in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class N98d07c4539744f0ebc1c7f7a88d4b6ca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbadf406b399d443b8b142348dd14b1fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6fe75436255348be96a95f4d0a31ae10 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0016418 biolink:NamedThing nasion The intersection of the frontal and two nasal bones of the human skull. Its manifestation on the visible surface of the face is a distinctly depressed area directly between the eyes, just superior to the bridge of the nose. tmpxe7fu0cj_hp_relaxed.owl FMA:264779 uberon owl:Class Ne8542f9d216d4eb2970ec364ec7d75f2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1f5e3ec30153478991753bc761517436 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:26708 biolink:NamedThing sodium atom tmpxe7fu0cj_hp_relaxed.owl sodium|sodio|Natrium|11Na|Na|natrium 0 Na InChI=1S/Na KEAYESYHFKHZAL-UHFFFAOYSA-N 22.98977 22.98977 [Na] CAS:7440-23-5|WebElements:Na|KEGG:C01330|Gmelin:16221 chebi_ontology owl:Class UBERON:0011756 biolink:NamedThing male genital swelling A genital swelling that is part of a male reproductive organ. tmpxe7fu0cj_hp_relaxed.owl scrotal bulge|labioscrotal swelling of male|scrotal primordium EMAPA:30509|EHDAA2:0001049 uberon owl:Class HP:0011756 biolink:NamedThing Posterior pituitary agenesis Absence of the neurohypophysis owing to a developmental defect. tmpxe7fu0cj_hp_relaxed.owl Neurohypophysis agenesis UMLS:C4023203 peter 2012-04-22T01:55:35Z human_phenotype owl:Class N36cbde44746d4829a9a07dfcd511b66e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N57ef284a205c4da9a06ea3b5a8eeb47f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:33552 biolink:NamedThing sulfonic acid derivative tmpxe7fu0cj_hp_relaxed.owl sulfonic acid derivative|sulfonic acid derivatives|derivatives of sulfonic acid chebi_ontology owl:Class N64caf22b1d084e598516ab0eea7c661d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003722 biolink:NamedThing Neck flexor weakness Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). tmpxe7fu0cj_hp_relaxed.owl Neck flexion weakness|Neck flexor muscle weakness UMLS:C1843637 HP:0000469 human_phenotype owl:Class N9dc1ddf6ddfa442483e75ff415c5e825 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf1e95c797ac2441ea7fa1d8824c90fc5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5ebd8dd98fc7485c875bd989be9e9379 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021532 biolink:NamedThing neural tube patterning The regionalization process that regulates the coordinated growth that establishes the non-random spatial arrangement of the neural tube. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0060439 biolink:NamedThing trachea morphogenesis The process in which a trachea is generated and organized. The trachea is the portion of the airway that attaches to the bronchi as it branches. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N2fcd11b51bc74ec8b2880eee04ed35b7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9672492b610745aea405430817e88f96 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N303924eca29347e7b9ad37dc4a965837 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011601 biolink:NamedThing gingiva of upper jaw A gingiva that is part of a upper jaw region. tmpxe7fu0cj_hp_relaxed.owl upper jaw gingiva|gum of upper jaw|upper gum|maxillary gum|upper gingiva|gum of maxilla EMAPA:18970|FMA:59763|NCIT:C54205 uberon owl:Class Nbbc946619c8048588077d232f291bf47 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0d70c57a348945b3a302099b24afbd90 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4b14eab05205426da8b57d2aa24a39ab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:17126 biolink:NamedThing carnitine An amino-acid betaine that is butanoate substituted with a hydroxy group at position C-3 and a trimethylammonium group at C-4. tmpxe7fu0cj_hp_relaxed.owl carnitine|D,L-carnitine|3-hydroxy-4-(trimethylammonio)butanoate 0 C7H15NO3 InChI=1S/C7H15NO3/c1-8(2,3)5-6(9)4-7(10)11/h6,9H,4-5H2,1-3H3 PHIQHXFUZVPYII-UHFFFAOYSA-N 161.19894 161.10519 C[N+](C)(C)CC(O)CC([O-])=O MetaCyc:DL-CARNITINE|Patent:US4315944|Wikipedia:Carnitine|PMID:22770225|Patent:US4255449|KEGG:C00487|DrugBank:DB02648|CAS:461-06-3|Beilstein:1866665|Reaxys:1866665|PMID:23868375 CHEBI:13947|CHEBI:11817|CHEBI:23038|CHEBI:20047 chebi_ontology owl:Class N2f35d07776414a9a827179f3fc527137 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N47656032c53d4464a0cb76f264fd6234 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008491 biolink:NamedThing Premature anterior fontanel closure Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024668 human_phenotype owl:Class Ncd99dd4d4c3a40d1bd587f9e792c2aaa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N37f834f92e8b4518bfdd0d16a4cd9b12 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:63394 biolink:NamedThing ketoaldonic acid derivative A monosaccharide derivative that is formally obtained from a ketoaldonic acid. tmpxe7fu0cj_hp_relaxed.owl ketoaldonic acid derivatives chebi_ontology owl:Class N7518233bdc3744a5ac96fe7032177093 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010682 biolink:NamedThing pedal digit 3 phalanx cartilage element A cartilage element that is part of a pedal digit 3 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl foot digit 3 phalanx cartilage element|pedal digit III phalanx cartilage element|hind limb digit 3 phalanx cartilage condensation EMAPA:18117 uberon owl:Class N7e717399eaea47b882d8021cf025cc07 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0035930 biolink:NamedThing corticosteroid hormone secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0004236 biolink:NamedThing Irregular carpal bones Carpal bones with irregular or fragmented margins. tmpxe7fu0cj_hp_relaxed.owl Irregular wrist bones UMLS:C4025401 human_phenotype owl:Class N737e6d9fb00746eabca2e77a2fa4ef4d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N819b748c4b284ee5ab0bea14ed4a186c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0035107 biolink:NamedThing appendage morphogenesis The process in which the anatomical structures of appendages are generated and organized. An appendage is an organ or part that is attached to the trunk of an organism, such as a limb or a branch. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0048736 biolink:NamedThing appendage development The process whose specific outcome is the progression of an appendage over time, from its formation to the mature structure. An appendage is an organ or part that is attached to the trunk of an organism, such as a limb or a branch. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0014371 biolink:NamedThing future telencephalon Embryonic structure that gives rise to the telencephalon. tmpxe7fu0cj_hp_relaxed.owl presumptive telencephalon TAO:0000571|EMAPA:36024|EHDAA2:0004424|ZFA:0000571 paired anteriolateral division of the embryonic prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived[MP] uberon owl:Class NBO:0000063 biolink:NamedThing regulation of eating behavior "A feeding behavior associated with the intake or the frequency of intake or preference or manner of intake of food." [NBO:GVG] GO:0042755 tmpxe7fu0cj_hp_relaxed.owl eating behaviour 2011-04-14T01:20:02Z George Gkoutos behavior_ontology owl:Class NBO:0000134 biolink:NamedThing food consumption "A feeding behavior associated with the intake of food." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-03-31T12:42:46Z George Gkoutos behavior_ontology owl:Class N784794eb112a46389def0ed28efc918b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N23eead5fdce94591bd9dd8f0e34c9096 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010155 biolink:NamedThing parietomastoid suture Unites the mastoid process of the temporal with the region of the mastoid angle of the parietal[WP:Squamosal_suture]. tmpxe7fu0cj_hp_relaxed.owl parietomastoid suture of skull|parieto-mastoid suture of skull FMA:52947 uberon owl:Class UBERON:0014547 biolink:NamedThing sacral division of spinal cord central canal Part of spinal cord central canal contained in the sacral spinal cord. It is continuous rostrally with the spinal cord central canal of the lumbar cord. tmpxe7fu0cj_hp_relaxed.owl sacral spinal cord central canal|lumbosacral spinal cord central canal NLXANAT:1010008|FMA:321696 uberon owl:Class Nfe5986bf3a044a8e8562539fc8b3459f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009934 biolink:NamedThing Supernumerary naris The presence of more than two nostrils. tmpxe7fu0cj_hp_relaxed.owl Accessory nares|Supernumerary nostrils|Accessory nostril|Supernumerary nares|Extra nostril UMLS:C4021372 peter 2009-05-10T10:37:41Z human_phenotype owl:Class N6dc6c92fddbc4303ab70a896d219831e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HsapDv:0000037 biolink:NamedThing fetal stage Prenatal stage that starts with the fully formed embryo and ends at birth. tmpxe7fu0cj_hp_relaxed.owl foetus stage|second and third trimester|fetus stage UBERON:0007220|EV:0300011 Prenatal development is a continuum, with no clear defining feature distinguishing an embryo from a fetus. The use of the term "fetus" generally implies that a mammalian embryo has developed to the point of being recognizable as belonging to its own species, though the point at which this occurs is subjective. [Wikipedia:Fetus] human_developmental_stage 266.0 56.0 owl:Class Na1cd2ffb688e4983845eaf4d05fb5f30 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N98a0d023691e429da7eb505ab58aed49 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008985 biolink:NamedThing Increased intramuscular fat An abnormal increase in the amount of intramuscular fat tissue. tmpxe7fu0cj_hp_relaxed.owl Increased intramuscular fat|Increased IM fat UMLS:C1835389 human_phenotype owl:Class Nf90016e88f84435399a273cba46d03c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2e69127ee72c4b238b592948c1457b00 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1556054eb1674b419998faa4435162b9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc6c3f0081eec4fdb84f64b0c42b7b2df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7fca104bd0784079b0b06c11747fecae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000526 biolink:NamedThing afferent neuron A neuron which conveys sensory information centrally from the periphery. tmpxe7fu0cj_hp_relaxed.owl input neuron FMA:87653 cell owl:Class N8e9c1c39ba3340b89e992d66ba049954 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HsapDv:0000083 biolink:NamedThing infant stage Immature stage that refers to an infant who is over 31 days and is under 24 months old. tmpxe7fu0cj_hp_relaxed.owl infantile stage|1-23 months human_developmental_stage 24.0 2.0 1.0 0.083 owl:Class N82c0b744f4934b96b4376a52b1b7865d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0097734 biolink:NamedThing extracellular exosome biogenesis The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. tmpxe7fu0cj_hp_relaxed.owl exosome production|intraluminal vesicle assembly|exosome biogenesis|ILV assembly|exosome assembly or secretion pr 2016-10-03T14:35:25Z biological_process owl:Class Ne9cd5caf045d4b42b531bde8f631777b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:43176 biolink:NamedThing hydroxy group tmpxe7fu0cj_hp_relaxed.owl hydroxyl group|hydroxy|hydroxy group|-OH|HYDROXY GROUP|hydroxyl 0 HO 17.00734 17.00274 *O[H] PDBeChem:OH CHEBI:24706|CHEBI:43171 chebi_ontology owl:Class HP:0004018 biolink:NamedThing Flared radial metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of the radius. tmpxe7fu0cj_hp_relaxed.owl Broadening of the distal radius UMLS:C4025441 human_phenotype owl:Class Nf7f50234d63e400dbf1af8b807709d06 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:2000847 biolink:NamedThing negative regulation of corticosteroid hormone secretion tmpxe7fu0cj_hp_relaxed.owl owl:Class N26f68b761a1a4a6b88a5574a5def5d4f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0018256 biolink:NamedThing lacrimal vein A vein that drains a lacrimal gland. tmpxe7fu0cj_hp_relaxed.owl FMA:51779 uberon owl:Class HP:0010999 biolink:NamedThing Aplasia of the optic tract tmpxe7fu0cj_hp_relaxed.owl Absent optic tract UMLS:C4023603 sdoelken 2011-02-13T11:28:03Z human_phenotype owl:Class Nc82145da02a947d1b9a27ca1039a814d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc5bafd8b63dc449983da06aed87ceea4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nef64ec81cd9948d09a95b7eb7cf0f034 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N33728e195c654ab98b4e419e56c9856a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410072 biolink:NamedThing Increased level of ribose in urine An increase in the level of ribose in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-01-30 00:47:12+00:00 Ribose is a pentose monosaccharide. ORCID:0000-0001-5208-3432 owl:Class N9236f4cc03224cd2b095408d5a2174ee biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8e38584a4c3845a0bf346f117ab4eb39 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6af52415d1a944cebc4c3349a96ba35b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0051451 biolink:NamedThing myoblast migration The orderly movement of a myoblast from one site to another, often during the development of a multicellular organism. A myoblast is a cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Ncc9f38755758420c8ee187ed6145b544 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004946 biolink:NamedThing submucosa of ileum A submucosa that is part of a ileum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl ileal submucosa|ileum submucosa FMA:14957 uberon owl:Class UBERON:0011919 biolink:NamedThing yolk sac blood island Masses of developing blood cells attached to endothelium in the yolk sac. tmpxe7fu0cj_hp_relaxed.owl visceral yolk sac blood island|yolk sac blood islands EMAPA:16115|EHDAA2:0000177 uberon owl:Class UBERON:0003316 biolink:NamedThing mesenchyme of yolk sac The portion of the yolk sac that is derived from mesoderm and consists of mesenchyme. tmpxe7fu0cj_hp_relaxed.owl yolk sac mesenchyme EHDAA:168|EHDAA2:0002216|EHDAA:205|EMAPA:16267|EMAPA:16087|VHOG:0000503|VHOG:0000617 UBERON:0003264 uberon owl:Class UBERON:0014444 biolink:NamedThing pubic ramus tmpxe7fu0cj_hp_relaxed.owl ramus of pubis uberon owl:Class N3cfca29e72974f5c8a3f08866c05f5c1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500135 biolink:NamedThing Hypotryptophanemia A decreased amount of tryptophan in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased tryptophan in blood|Low blood tryptophan concentration 2018-10-01 15:10:31+00:00 owl:Class N4f96fb0ea7394ff79da2bf3978dc6062 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003196 biolink:NamedThing Short nose Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic nose|Nasal hypoplasia|Shortened nose|Decreased length of nose|Short nose|Small nose UMLS:C0426414|UMLS:C1854114|SNOMEDCT_US:249310005 Note: a small nose has both decreased height and a decreased width. These should be coded separately. HP:0000450|HP:0005270|HP:0000440|HP:0003192|HP:0003195|HP:0000449|HP:0200092 human_phenotype owl:Class Naea96152a6d243e987eabea47a258ae9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003118 biolink:NamedThing pharyngeal arch artery 1 The vessels formed within the first pair of branchial arches in embryogenesis. tmpxe7fu0cj_hp_relaxed.owl AA1|aortic arch 1|1st branchial arch artery|1st arch artery|first arch artery|first branchial arch artery|mandibular aortic arch|1st aortic arch artery|1st pharyngeal arch artery|first aortic arch EMAPA:16685|TAO:0005005|SCTID:308774003|AAO:0010415|ZFA:0005005|EMAPA:16202|EHDAA2:0000007|XAO:0000342|VHOG:0000149 UBERON:0004371 uberon owl:Class Disappears early in development in tetrapods ZFA states that The paired aortic arch 1 arteries branch off of the ventral aorta, and empty into the right and left lateral dorsal aortas UBERON:0010392 biolink:NamedThing B cell domain tmpxe7fu0cj_hp_relaxed.owl TODO - check uberon owl:Class Nbf6f40b0c7bb4667a7ab1b67d0c63962 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100207 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the outermost bone of the pinky toe|Irregular end part of the outermost bone of the pinkie toe|Irregular end part of the outermost bone of the little toe UMLS:C4022214 doelkens 2010-06-24T05:03:31Z human_phenotype owl:Class N504ca04b8c634078b51b2b2fe343b953 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009540 biolink:NamedThing Contracture of the proximal interphalangeal joint of the 2nd finger Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. tmpxe7fu0cj_hp_relaxed.owl Camptodactyly of 2nd finger|Camptodactyly of index finger|Camptodactyly of second finger UMLS:C4021451 doelkens 2009-01-21T10:11:49Z human_phenotype owl:Class N0878161b9ec34d28a11e2b54cacb5a18 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011332 biolink:NamedThing extrinsic tongue pre-muscle mass tmpxe7fu0cj_hp_relaxed.owl EMAPA:17884 uberon owl:Class N819e58a25efe472e89f42855d0835bd0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N92430e29038a4d53b99f4656a62df3b1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010189 biolink:NamedThing right atrium venous valve tmpxe7fu0cj_hp_relaxed.owl right venous valve EMAPA:17328|MA:0001872|EHDAA2:0001762|EMAPA:17010 uberon owl:Class part_of in EHDAA2. Only child in MA. UBERON:0004875 biolink:NamedThing nephrogenic cord A portion of the urogenital ridge which is the source of much of the urinary system[WP]. tmpxe7fu0cj_hp_relaxed.owl chorda nephrogenica NCIT:C34219|UMLS:C1283944|FMA:72168 part_of or develops_from urogenital ridge? uberon owl:Class HP:0500138 biolink:NamedThing Hyperserinemia An increased amount of serine in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased serine blood concentration|Elevated circulating serine levels|High blood serine levels 2018-10-01 16:54:02+00:00 owl:Class N57d04b6c0799412ab67e42a80263efb8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009586 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 2nd finger Fusion of the proximal phalanx of the 2nd finger with another bone. tmpxe7fu0cj_hp_relaxed.owl Fused innermost bone of index finger UMLS:C4024277 doelkens 2009-01-28T05:26:39Z human_phenotype owl:Class Nb818ccd64102485b83740e5002365eb0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1902742 biolink:NamedThing apoptotic process involved in development Any apoptotic process that is involved in anatomical structure development. tmpxe7fu0cj_hp_relaxed.owl apoptotic process involved in anatomical structure development|induction of apoptosis by p53 involved in development of an anatomical structure|induction of apoptosis by p53 involved in anatomical structure development|programmed cell death by apoptosis involved in development of an anatomical structure|commitment to apoptosis involved in development of an anatomical structure|type I programmed cell death involved in anatomical structure development|apoptotic process involved in development of an anatomical structure|apoptosis activator activity involved in anatomical structure development|activation of apoptosis involved in development of an anatomical structure|apoptotic cell death involved in anatomical structure development|induction of apoptosis involved in development of an anatomical structure|apoptotic program involved in anatomical structure development|apoptosis signaling involved in development of an anatomical structure|commitment to apoptosis involved in anatomical structure development|apoptotic programmed cell death involved in development of an anatomical structure|apoptotic cell death involved in development of an anatomical structure|apoptosis activator activity involved in development of an anatomical structure|induction of apoptosis involved in anatomical structure development|apoptosis involved in anatomical structure development|programmed cell death by apoptosis involved in anatomical structure development|apoptosis involved in development of an anatomical structure|apoptotic programmed cell death involved in anatomical structure development|activation of apoptosis involved in anatomical structure development|apoptosis signaling involved in anatomical structure development|signaling (initiator) caspase activity involved in anatomical structure development|type I programmed cell death involved in development of an anatomical structure|apoptotic program involved in development of an anatomical structure|signaling (initiator) caspase activity involved in development of an anatomical structure pr 2014-02-28T13:09:43Z biological_process owl:Class GO:0005759 biolink:NamedThing mitochondrial matrix The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. tmpxe7fu0cj_hp_relaxed.owl mitochondrial stroma|mitochondrial lumen Wikipedia:Mitochondrial_matrix|NIF_Subcellular:sao1804523077 GO:0031980 cellular_component owl:Class Nade4ef5c16a246b2845d4025ad3816a9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011052 biolink:NamedThing Agenesis of maxillary premolar Agenesis of maxillary premolar. tmpxe7fu0cj_hp_relaxed.owl Absence of maxillary premolar|Failure of development of maxillary bicuspid|Agenesis of maxillary bicuspid|Missing upper premolar|Missing maxillary premolar|Absence of maxillary bicuspid|Absence of upper premolar|Failure of development of maxillary premolar|Missing upper bicuspid UMLS:C4280350|UMLS:C4023565 Note that premolar teeth occur only in the permanent dentition. peter 2011-03-10T11:39:06Z human_phenotype owl:Class N49650e99c8aa429d87ccb6ca7d2daf36 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbf9d8bf9b2864d9290c66d8e249592df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N01e3249ebf9f448986353a92dd54af7c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000816 biolink:NamedThing immature B cell An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation. tmpxe7fu0cj_hp_relaxed.owl immature B lymphocyte|immature B-cell|immature B-lymphocyte|newly formed B cell Immature B cells are also reportedly CD5-positive, CD10-positive, CD19-positive, CD20-positive, CD21-positive, CD22-positive, CD24-positive, CD25-negative, CD27-negative, CD34-negative, CD38-positive, CD40-positive, CD43-negative, CD45-positive, CD48-positive, CD53-positive, CD79a-positive, CD80-negative, CD81-positive, CD86-negative, CD95-negative, CD127-negative, CD138-negative, CD185-positive, CD196-positive, MHCII/HLA-DR-positive, RAG-positive, TdT-negative, Vpre-B-negative, and preBCR-negative. Transcription factors expressed: Pax5-positive. cell owl:Class CL:0000954 biolink:NamedThing small pre-B-II cell A small pre-B-II cell is a pre-B-II cell that is Rag1-positive, Rag2-positive, pre-BCR-negative, and BCR-negative, is not proliferating, and carries a DNA rearrangement of one or more immunoglobulin light chain genes. tmpxe7fu0cj_hp_relaxed.owl small pre-BII cell Small pre-B-II cells are also reportedly CD10-positive, CD19-positive, CD34-negative, CD79a-positive, CD127-negative, TdT-negative, Vpre-B-negative, sIgM-negative, and sIgD-negative. Transcription factors: PU.1-positive, Ikaros-positive, E2A-positive, and PAX5-positive. cell owl:Class N919d3bfed34a43269e16563e75bb0124 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000718 biolink:NamedThing Aggressive behavior Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself. tmpxe7fu0cj_hp_relaxed.owl Aggressive behaviour|physical aggression|Aggressive behavior|Aggressiveness|Aggression UMLS:C0001807|MSH:D000374|SNOMEDCT_US:61372001|UMLS:C1457883|UMLS:C0424323|SNOMEDCT_US:248004009 human_phenotype owl:Class Nf9e48d79aa054248bd52fbecc96cace8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000526 biolink:NamedThing Aniridia Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. tmpxe7fu0cj_hp_relaxed.owl Absent iris UMLS:C0003076|SNOMEDCT_US:69278003|MSH:D015783 HP:0011498 human_phenotype owl:Class Nb0c8683fdea14f6cb88185165cea549f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5054fe39f17c44a1992aa531da52d9d1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1903132 biolink:NamedThing regulation of tube lumen cavitation Any process that modulates the frequency, rate or extent of tube lumen cavitation. tmpxe7fu0cj_hp_relaxed.owl dph 2014-06-25T20:18:58Z biological_process owl:Class N85b51b5dffee46f2906a34556572a40b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd0fe011c7ddf4a22a2a0abfff920f289 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HsapDv:0000080 biolink:NamedThing immature stage Human developmental stage that covers the period from birth until 12 years old. tmpxe7fu0cj_hp_relaxed.owl child|0-12 years UBERON:0000112 human_developmental_stage 13.0 owl:Class HsapDv:0000001 biolink:NamedThing human life cycle Temporal interval that defines human life from the prenatal stage until late adulthood. tmpxe7fu0cj_hp_relaxed.owl UBERON:0000104 human_developmental_stage owl:Class UBERON:0006232 biolink:NamedThing facio-acoustic VII-VIII preganglion complex tmpxe7fu0cj_hp_relaxed.owl facio-acoustic preganglion complex EMAPA:16660|RETIRED_EHDAA2:0000496|VHOG:0000715|EHDAA:1477 uberon owl:Class CHEBI:32872 biolink:NamedThing prolinium An alpha-amino-acid cation that is the conjugate acid of proline, arising from protonation of the amino group. tmpxe7fu0cj_hp_relaxed.owl proline cation|prolinium|2-carboxypyrrolidinium|H2pro(+) +1 C5H10NO2 InChI=1S/C5H9NO2/c7-5(8)4-2-1-3-6-4/h4,6H,1-3H2,(H,7,8)/p+1 ONIBWKKTOPOVIA-UHFFFAOYSA-O 116.13840 116.07060 OC(=O)C1CCC[NH2+]1 chebi_ontology owl:Class Ne78b86d45fb245058df3a1ed66c76ab5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035139 biolink:NamedThing anterior nasal spine of maxilla A pointed projection at the front extremity of the intermaxillary suture. tmpxe7fu0cj_hp_relaxed.owl anterior nasal spine|spina nasalis anterior corporis maxillae FMA:75770 uberon owl:Class N98d3ebe4db6249f2874707cc26726489 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N824af5340fca41c5a58306da7f1fb1e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006660 biolink:NamedThing Aplastic clavicle Absence of the clavicles as a developmental defect. tmpxe7fu0cj_hp_relaxed.owl Absent collarbone|Absent clavicles|Aplastic clavicles UMLS:C1857665 human_phenotype owl:Class N8b2c58e4b5cf401db9976e9e50717f34 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HGNC:9606 biolink:NamedThing PTH (human) A protein coding gene PTH in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class Na62e5a7e0e884ae2bebea4961e789b4a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0033278 biolink:NamedThing cell proliferation in midbrain The multiplication or reproduction of cells, resulting in the expansion of a cell population in the midbrain. tmpxe7fu0cj_hp_relaxed.owl mesencepahalic cell proliferation|cell proliferation in mesencephalon biological_process owl:Class HP:0008166 biolink:NamedThing Decreased beta-galactosidase activity Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma. tmpxe7fu0cj_hp_relaxed.owl Decreased beta galactosidase activity|Beta-galactosidase-1 deficiency|Beta-galactosidase deficiency in fibroblasts and white blood cells UMLS:C1856559|UMLS:C0085131|SNOMEDCT_US:238025006|UMLS:C1854788|MSH:D016537 HP:0008300|HP:0003644 human_phenotype owl:Class N0da48d01f08c4caf8c13793ecc27e448 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc62f1e95757f4d5789cf5eb026742fa2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8730c62ed1294096babad06cb9775b92 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N132f62b17d9c4143ad8f616f88b6cef0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0007440 biolink:NamedThing foregut morphogenesis The process in which the anatomical structures of the foregut are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0410190 biolink:NamedThing Decreased glucose-6-phosphate dehydrogenase level in leukocytes A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes. tmpxe7fu0cj_hp_relaxed.owl Decreased G6PD level in leukocytes 2018-05-21 18:04:02+00:00 owl:Class N9844bfb8f6f54d13b8975b5431d3147c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N52eb02ab51cb46e2b01dc14ac6c0868a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003984 biolink:NamedThing Posteriorly dislocated ulna tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025465 human_phenotype owl:Class Necfffae9742d489bbd0d486b32ac16e5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008196 biolink:NamedThing muscle of pectoral girdle Any muscle organ that is part of a pectoral girdle region. tmpxe7fu0cj_hp_relaxed.owl muscle of shoulder girdle|pectoral girdle muscle EMAPA:17748|FMA:37347 uberon owl:Class EMAPA has both non-skeletal and skeletal types, with the non-skeletal also including a chest muscle, so we place the skeletal class here as the most accurate HP:3000031 biolink:NamedThing Abnormality of anterior ethmoidal artery An abnormality of an anterior ethmoidal artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073287 vasilevs 2015-08-07T00:27:12Z human_phenotype owl:Class N4a344db9777d4c9099cad77f9ccc1abc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500032 biolink:NamedThing Abnormal neuron branching Abnormality of the structure and branching of the dendrites of a neuron. tmpxe7fu0cj_hp_relaxed.owl Abnormal neuronal branching|Aberrant neuronal branching 2017-06-07 17:35:08+00:00 ORCID:0000-0003-0169-8159 ORCID:0000-0001-7941-2961 owl:Class N03939d9fb9f2499c906da510ab7e7788 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbf54997d68824e928543493db5047431 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N52c4c1d61b764c51b6a7708f13e49433 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0ce9a4890442403482ea71122bc4a945 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:62803 biolink:NamedThing fuel additive Any additive that enhances the efficiency of fuel. tmpxe7fu0cj_hp_relaxed.owl fuel enhancer|fuel additives chebi_ontology owl:Class Nfc11a53bb1474d829831d45586b2ad22 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc0b9f85522ea4c4e9ed4bd2439f9a0b2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N061ff1b8669f4488bfb142334bb3c83b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N62ed289746c046168bb83f27f8c325e4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5b13bebe44034089a9be1a4321e3130f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3fda5f99e6df44bbac47b509cd15b05e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfb29508462b7467b8d26c4d030b19beb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040261 biolink:NamedThing Increased size of nasopharyngeal adenoids An abnormal increase in the size of nasopharyngeal adenoids. tmpxe7fu0cj_hp_relaxed.owl Adenoid hypertrophy|Adenoids large SNOMEDCT_US:111591002|UMLS:C0149825|UMLS:C0455938|SNOMEDCT_US:276442006 owl:Class Ndd9d5d22776a44b8a6a909f9e9fe1cc3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005692 biolink:NamedThing manual digit 2 mesenchyme Mesenchyme that is part of a developing manual digit 2. tmpxe7fu0cj_hp_relaxed.owl fore limb digit 2 mesenchyme|manual digit II mesenchyme|hand digit 2 mesenchyme EMAPA:17434|EHDAA2:0000519 uberon owl:Class Ne9b253fdc7be42e58623751af0a59168 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncc1fe4d6c96e4aab9226da8f4478c8d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N123be29229b446d2afa7f752b062ec4f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfbd956599f764c91a1d105b26429e048 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0150102 biolink:NamedThing negative regulation of monocyte activation Any process that stops, prevents or reduces the frequency, rate or extent of monocyte activation. tmpxe7fu0cj_hp_relaxed.owl repression of monocyte activation bc 2019-04-26T20:01:24Z biological_process owl:Class N72a7cca4f57b4a489b034530aabb53cf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb310133bf39b461dbcdaf39ea23d58bc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012299 biolink:NamedThing Long distal phalanx of finger Increased length of the distal phalanx of finger. tmpxe7fu0cj_hp_relaxed.owl Long outermost bone of finger UMLS:C4021865 peter 2013-04-12T05:48:52Z human_phenotype owl:Class N02a810b09b3b404a87baeb47cc577cb0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410240 biolink:NamedThing Abnormal circulating IgA level An abnormal deviation from normal levels of IgA immunoglobulin in blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal IgA level in blood 2018-10-12 20:32:11+00:00 owl:Class N8183a112dd314c16a432bb089e02d0f3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne91911f5a97e4f95b1cf972483a5cdca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na33ccccdb3414dc9b46698f9f77d79fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009759 biolink:NamedThing Neck pterygia Pterygia affecting the neck. tmpxe7fu0cj_hp_relaxed.owl Neck pterygium UMLS:C1849577 peter 2009-01-31T10:10:09Z human_phenotype owl:Class Nc7e5cd1a5e3546819080ca4f2c765a67 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002810 biolink:NamedThing Dumbbell-shaped metaphyses tmpxe7fu0cj_hp_relaxed.owl Dumbbell shaped metaphyses|Dumbbell shaped metaphysis|Dumbbell shaped wide portion of long bone UMLS:C3277123 HP:0005079 human_phenotype owl:Class N8885b353ee664475a9d10182cafb5463 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N541faaa74ff840e8a52ead049e8f40ee biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf3df74e6952f43098a04f09eb87f27fa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Necdecd8f60c84427a082e668a8d91994 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5bf0a42a04114461822ed1d29ca8c44d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf119cfe190314576906b8b14456515de biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N168471b4becd4351a97e8bbc9f65ab84 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009581 biolink:NamedThing midbrain mantle layer tmpxe7fu0cj_hp_relaxed.owl mantle layer lateral wall mesencephalon|midbrain lateral wall mantle layer|mantle layer lateral wall midbrain EMAPA:16977|VHOG:0000910|EHDAA2:0001172 uberon owl:Class Nb549d4bd6dae4450a2c551b5b7bb5a67 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N644c13d136ac4832ad744f634a8b53bc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2c6f83e1cb47417bbd2748d9c292ed19 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nae8f38ae21254023862aae5deab970cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9705e4bb942d491ba2ef81d8eb5bcfaa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N764b0879b3104d8abc6425bbabdabd61 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008345 biolink:NamedThing ileal epithelium An epithelium that is part of a ileum. tmpxe7fu0cj_hp_relaxed.owl epithelium of ileum FMA:17233|EMAPA:35423|MA:0003217 uberon owl:Class UBERON:0012168 biolink:NamedThing umbilical cord blood Blood that remains in the placenta and in the attached umbilical cord after childbirth[WP]. tmpxe7fu0cj_hp_relaxed.owl umbilical cord blood|cord blood|fetal blood EFO:0001942|MESH:D005312|BTO:0004053|CALOHA:TS-1079 Cord blood is collected because it contains stem cells, which can be used to treat hematopoietic and genetic disorders.[WP] uberon owl:Class Na919a5017e8a4202bcd6ac55a7cb55a0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0006415 biolink:NamedThing translational termination The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). tmpxe7fu0cj_hp_relaxed.owl translation termination|protein synthesis termination|translational complex disassembly GO:0006443|GO:0006456 biological_process owl:Class HP:0005451 biolink:NamedThing Decreased cranial base ossification tmpxe7fu0cj_hp_relaxed.owl UMLS:C1835442 human_phenotype owl:Class Ne3fe0bc36a7d4afcb80ebf43bbc19c74 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004053 biolink:NamedThing Dysharmonic maturation of the hand bones Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand. tmpxe7fu0cj_hp_relaxed.owl Dysharmonic ossification of the hand bones|Disharmonic maturation of the hand bones UMLS:C4021685 HP:0006204 human_phenotype owl:Class N5cea8f5aaa4a467d9db33939c26307f3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nccfa3291ae484bb89fd9bea3753fa884 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf795e2152c3d45bab20f3d9cb8291941 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005457 biolink:NamedThing left thymus lobe A thymus lobe that is in the left side of a thymus. tmpxe7fu0cj_hp_relaxed.owl left lobe of thymus|left thymic lobe RETIRED_EHDAA2:0000964|FMA:71195 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern HP:0003209 biolink:NamedThing Decreased pyruvate carboxylase activity A decreased rate of pyruvate carboxylase activity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025641 Pyruvate carboxylase (EC 6.4.1.1) is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a precursor for the citric acid cycle. human_phenotype owl:Class N777cae4fe5984aacb9d6c8f39bef511d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nca7cae6c3c854153aba4322a5f5faa7c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0019438 biolink:NamedThing aromatic compound biosynthetic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. tmpxe7fu0cj_hp_relaxed.owl aromatic compound anabolism|aromatic compound synthesis|aromatic hydrocarbon biosynthetic process|aromatic compound formation|aromatic hydrocarbon biosynthesis|aromatic compound biosynthesis biological_process owl:Class N0a4fbb40a6dc4eaa81fcbeef92a0f93c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100117 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the middle bone of the 2nd toe UMLS:C4022304 doelkens 2010-06-24T10:05:37Z human_phenotype owl:Class N7810830276c94414aafb6b0b0f5bbace biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd25f3343f4a54461b1ce56032e01b336 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9c57062ad06b4dc4b32020851eaf168e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfd2558acc903451f9418b4155c819e90 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005458 biolink:NamedThing left umbilical artery tmpxe7fu0cj_hp_relaxed.owl embryonic left umbilical artery FMA:18822|EMAPA:16544|EHDAA2:0000966|VHOG:0000522 uberon owl:Class UBERON:0011696 biolink:NamedThing left extraembryonic umbilical artery tmpxe7fu0cj_hp_relaxed.owl extraembryonic umbilical artery left EHDAA2:0000937 uberon owl:Class GO:2000272 biolink:NamedThing negative regulation of signaling receptor activity Any process that stops, prevents or reduces the frequency, rate or extent of a signaling receptor activity. tmpxe7fu0cj_hp_relaxed.owl negative regulation of receptor activity|negative regulation of signalling receptor activity bf 2010-12-02T09:28:47Z biological_process owl:Class N702695d8bac64415916134f03b8b190f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0031313 biolink:NamedThing Abdominal aortic calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta. tmpxe7fu0cj_hp_relaxed.owl 2017-08-26 21:44:24+00:00 peter owl:Class Na07e2e434e954541bf43f1c1958801e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndd6419852f8645e78a0a2845cfe57a39 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010156 biolink:NamedThing sphenofrontal suture The Sphenofrontal suture is the cranial suture between the sphenoid bone and the frontal bone. tmpxe7fu0cj_hp_relaxed.owl spheno-frontal suture|frontosphenoid suture|sphenofrontal|sphenofrontal suture of skull|sutura sphenofrontalis FMA:52938 http://upload.wikimedia.org/wikipedia/commons/2/2d/Gray164.png uberon owl:Class N18b236961bd749359c05b9e13d19c59f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060458 biolink:NamedThing right lung development The biological process whose specific outcome is the progression of a right lung from an initial condition to its mature state. This process begins with the formation of the right lung and ends with the mature structure. The right lung is the lung which is on the right side of the anterior posterior axis looking from a dorsal to ventral aspect. tmpxe7fu0cj_hp_relaxed.owl right pulmonary development biological_process owl:Class N981fa55d2cf64412acb1756b4a5dd0f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0033198 biolink:NamedThing Triggered by viral infection Applies to a sign or symptom that is provoked or brought about by infection by a virus. tmpxe7fu0cj_hp_relaxed.owl 2020-10-11 12:16:45+00:00 peter owl:Class HP:0007274 biolink:NamedThing Recurrent bacterial meningitis An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1845604 human_phenotype owl:Class HP:0410320 biolink:NamedThing Animal protein allergy Hypersensitivity in form of an adverse immune reaction against animal proteins. tmpxe7fu0cj_hp_relaxed.owl Animal protein allergy|Allergy to animal proteins|IgE-mediated animal protein allergy|Immunoglobulin E-mediated animal protein allergy owl:Class CL:0000147 biolink:NamedThing pigment cell A pigment cell is a cell that contains pigment granules. tmpxe7fu0cj_hp_relaxed.owl chromatophore|chromatocyte VHOG:0001678 cell owl:Class CHEBI:76764 biolink:NamedThing EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*). tmpxe7fu0cj_hp_relaxed.owl EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitor|EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitors|EC 3.5.* inhibitor|EC 3.5.* inhibitors|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitor|EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitors|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitors chebi_ontology owl:Class HP:0032608 biolink:NamedThing Thyroidization-type tubular atrophy A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0000092 biolink:NamedThing Renal tubular atrophy The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. tmpxe7fu0cj_hp_relaxed.owl Tubular atrophy|Renal tubular cell atrophy UMLS:C1858395 Atrophic tubules must be distinguished from acute tubular injury as both can show extensive tubular epithelial changes. In acute tubular injury, tubules are often dilated and tubular basement membranes are smooth and maintain normal thickness, in contrast to the contracted tubules with thickened and wrinkled tubular basement membranes of tubular atrophy. Further, in acute tubular injury, tubules are usually back-to-back or mildly separated by interstitial edema, while in tubular atrophy tubules can be separated by interstitial fibrosis. Uniform thickening of tubular basement membranes without shrinkage and otherwise healthy epithelial cells can be seen in diabetic nephropathy. Duplication, or lamellation, thickening, and disruption of tubular basement membranes with tubular dilatation can be seen in medullary cystic kidney disease/nephronophthisis. HP:0005578 owl:Class HP:0032917 biolink:NamedThing Focal aware sexual automatism seizure A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0000913 biolink:NamedThing Posterior rib fusion Complete or partial merging of the posterior part of adjacent ribs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1842084 human_phenotype owl:Class HP:0000902 biolink:NamedThing Rib fusion Complete or partial merging of adjacent ribs. tmpxe7fu0cj_hp_relaxed.owl Rib fusion|Fused ribs UMLS:C1844749 HP:0000880 human_phenotype owl:Class HP:0033017 biolink:NamedThing Transient decreased circulating IgD A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Transient decreaseed IgD in blood peter owl:Class HP:0030027 biolink:NamedThing Abnormality of the nasal cartilage A morphological anomaly of the nasal cartilage. tmpxe7fu0cj_hp_relaxed.owl Deformity of cartilage of nose|Deformity of nasal cartilage|Anomaly of cartilage of nose|Malformation of cartilage of nose|Malformation of nasal cartilage|Abnormality of the nasal cartilage|Abnormality of cartilage of nose|Anomaly of nasal cartilage UMLS:C4022670 owl:Class HP:0010938 biolink:NamedThing Abnormality of the external nose An abnormality of the external nose. tmpxe7fu0cj_hp_relaxed.owl Anomaly of the external nose|Abnormality of the external nose|Malformation of the external nose|Deformity of the external nose UMLS:C4280360|UMLS:C4023638|UMLS:C2164724 peter 2011-01-16T02:21:10Z human_phenotype owl:Class HP:0010796 biolink:NamedThing Brainstem glioma A glioma affecting the brainstem. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0677865|SNOMEDCT_US:444545003 peter 2010-06-25T09:10:45Z human_phenotype owl:Class HP:0002494 biolink:NamedThing Abnormal rapid eye movement sleep Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements. tmpxe7fu0cj_hp_relaxed.owl Abnormal REM sleep SNOMEDCT_US:69020003|UMLS:C0392188 human_phenotype owl:Class HP:0033708 biolink:NamedThing Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity tmpxe7fu0cj_hp_relaxed.owl Anti-HMGCR autoantibodies|Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibodies 2021-03-31 11:32:16+00:00 peter owl:Class HP:0010776 biolink:NamedThing Tracheobronchmegaly Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023707 Tracheobronchmegaly is typically characterized by atrophy or absence of elastic fibers and thinning of smooth muscle layers in the trachea and main bronchi. sdoelken 2010-04-29T10:22:55Z human_phenotype owl:Class HP:0010778 biolink:NamedThing Tracheomegaly Marked widening of the trachea. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023705 sdoelken 2010-04-29T10:28:51Z human_phenotype owl:Class MPATH:176 biolink:NamedThing connective tissue replacement Replacement of connective tissue by fibro-fatty deposits and scar tissue. tmpxe7fu0cj_hp_relaxed.owl George Gkoutos mouse_pathology.ontology owl:Class HP:0003161 biolink:NamedThing 4-Hydroxyphenylpyruvic aciduria Increased concentration of pyruvic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Hydroxyphenylpyruvic aciduria UMLS:C1848678 human_phenotype owl:Class HP:0033314 biolink:NamedThing Visceral epithelial cell hyperplasia Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. tmpxe7fu0cj_hp_relaxed.owl Podocyte hyperplasia|Hyperplasia of visceral epithelial cells 2020-11-29 13:17:07+00:00 peter owl:Class HP:0000235 biolink:NamedThing Abnormality of the fontanelles or cranial sutures Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025876 Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull. At birth, an infant has six fontanels (the anterior and posterior, two mastoid, and two sphenoid). The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months. human_phenotype owl:Class HP:0006095 biolink:NamedThing Wide tufts of distal phalanges tmpxe7fu0cj_hp_relaxed.owl Wide tips of outermost digital bone UMLS:C1835101 human_phenotype owl:Class HP:0006200 biolink:NamedThing Widened distal phalanges tmpxe7fu0cj_hp_relaxed.owl Widened outermost bone of limb UMLS:C1862421 human_phenotype owl:Class HP:0006870 biolink:NamedThing Lobar holoprosencephaly A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:253136007|UMLS:C0431362|MSH:D016142 owl:Class HP:0009927 biolink:NamedThing Aplasia of the nose Complete absence of all nasal structures. tmpxe7fu0cj_hp_relaxed.owl Absent nose|Underdevelopment of nose|Arrhinia|Failure of development of nose|Missing nose|Nasal underdevelopment UMLS:C4280391|SNOMEDCT_US:111317000|MSH:C537438|UMLS:C0265740 peter 2009-05-05T06:44:57Z human_phenotype owl:Class CL:0000170 biolink:NamedThing glucagon secreting cell A cell that secretes glucagon. tmpxe7fu0cj_hp_relaxed.owl glucagon-secreting cell FMA:84045 cell owl:Class HP:0041244 biolink:NamedThing Fractured scapula A partial or complete breakage of the scapula. tmpxe7fu0cj_hp_relaxed.owl bone scapula owl:Class GO:0006090 biolink:NamedThing pyruvate metabolic process The chemical reactions and pathways involving pyruvate, 2-oxopropanoate. tmpxe7fu0cj_hp_relaxed.owl pyruvate dehydrogenase bypass|pyruvate metabolism Wikipedia:Pyruvic_acid|MetaCyc:P41-PWY GO:0006087 biological_process owl:Class HP:0007108 biolink:NamedThing Demyelinating peripheral neuropathy Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:23414001|UMLS:C0270922 HP:0007205 human_phenotype owl:Class HP:0009186 biolink:NamedThing Contracture of the metacarpophalangeal joint of the 5th finger Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024550 peter 2008-12-29T04:18:00Z human_phenotype owl:Class HP:0008541 biolink:NamedThing Superiorly displaced ears tmpxe7fu0cj_hp_relaxed.owl High set ears UMLS:C1850190 owl:Class HP:0031523 biolink:NamedThing Salivary gland oncocytoma A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria) tmpxe7fu0cj_hp_relaxed.owl Parotid oncocytoma 2017-09-23 01:57:47+00:00 Most cases of salivary gland oncocytoma occur in the parotid gland. peter owl:Class HP:0009554 biolink:NamedThing Preauricular hair displacement An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones. tmpxe7fu0cj_hp_relaxed.owl Hair displacement, preauricular, towards lateral cheekbone|Projection of scalp hair onto lateral cheek|Hair growing down to cheek UMLS:C4024296 peter 2009-01-21T05:21:54Z human_phenotype owl:Class HP:0009553 biolink:NamedThing Abnormality of the hairline The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the hairline UMLS:C4024297 peter 2009-01-21T05:19:14Z owl:Class HP:0025672 biolink:NamedThing Fetal skin edema A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue. tmpxe7fu0cj_hp_relaxed.owl In first trimester ultrasound examination generalized skin edema is often the first feature of hydrops fetalis. peterrobinson owl:Class CL:0010009 biolink:NamedThing camera-type eye photoreceptor cell tmpxe7fu0cj_hp_relaxed.owl camera type eye photoreceptor cell owl:Class UBERON:0015039 biolink:NamedThing pedal digit 3 metatarsal endochondral element A pedal digit 3 metatarsal bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl pedal digit 3 metatarsal element|pedal digit 3 metatarsal skeletal element|pedal digit III metatarsal endochondral element uberon owl:Class UBERON:0004175 biolink:NamedThing internal genitalia The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals. tmpxe7fu0cj_hp_relaxed.owl internal reproductive organ|internal sex organ|internal genitalia|internal genitals FMA:45652 TODO: make a subdivision of reproductive system. Relabel. See https://github.com/obophenotype/uberon/issues/547 uberon owl:Class HP:3000068 biolink:NamedThing Abnormality of lateral pterygoid muscle An abnormality of a lateral pterygoid muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073275 vasilevs 2015-08-07T03:38:40Z human_phenotype owl:Class HP:0030665 biolink:NamedThing Rubral tremor Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements. tmpxe7fu0cj_hp_relaxed.owl Holmes' tremor UMLS:C0750940|MSH:D001259 Rubral tremor can be observed with midbrain injury and probably results from combined lesions of the superior cerebellar peduncle, substantia nigra, and red nucleus with interruption of the outflow pathway from the cerebellum to the motor thalamus. This tremor is present at rest but tends to be slower (3 to 5 Hz) than typical Parkinson tremor (5 to 7 Hz). It also persists unchanged or even increases with postural changes or goal-directed activity. Phenotips:chum owl:Class HP:0012542 biolink:NamedThing Onychauxis Thickened nails without deformity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0263536|SNOMEDCT_US:30654002 peter 2013-12-15T10:49:45Z human_phenotype owl:Class HP:0031887 biolink:NamedThing Abnormal chylomicron concentration Any deviation from the normal circulating concentration of chylomicrons. tmpxe7fu0cj_hp_relaxed.owl 2018-05-13 14:32:44+00:00 Chylomicrons are one of the major classes of lipoproteins. Like VLDL, they function to transport triacylglycerol (TAG) in the circulation. Chylomicrons are synthesized in the small intestine by enterocytes from absorbed lipids. Endothelial cells in the circulation can process TAG from chylomicrons by means of the cell-surface enzyme lipoprotein lipase, which digests the TAG to fatty acids and monoglycerides. peter owl:Class CHEBI:37786 biolink:NamedThing acyclic phosphorus acid anhydride tmpxe7fu0cj_hp_relaxed.owl acyclic phosphorus acid anhydrides chebi_ontology owl:Class CHEBI:36608 biolink:NamedThing acyclic acid anhydride tmpxe7fu0cj_hp_relaxed.owl acyclic acid anhydride|acyclic acid anhydrides|acyclic anhydrides chebi_ontology owl:Class HP:0011848 biolink:NamedThing Abdominal colic A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity. tmpxe7fu0cj_hp_relaxed.owl MSH:D003085|UMLS:C0232488|SNOMEDCT_US:9991008 Colicky abdominal pain can be caused by kidney stones and gallstones, among other etiologies. This type of pain is thought to be caused by spasm, obstruction, or distension of any of the hollow viscera of the gastrointestinal system. hecht 2012-05-12T07:17:45Z human_phenotype owl:Class HP:0011720 biolink:NamedThing Cardiac total anomalous pulmonary venous connection Type 2 total anomalous pulmonary venous connection. tmpxe7fu0cj_hp_relaxed.owl Cardiac total anomalous pulmonary venous connexion|Type 2 total anomalous pulmonary venous connection|Total anomalous pulmonary venous connection, intracardiac Fyler:0930|UMLS:C4021130|Fyler:0920|Fyler:930|Fyler:920 peter 2012-04-11T08:51:32Z human_phenotype owl:Class UBERON:0010231 biolink:NamedThing anatomical line between outer ears tmpxe7fu0cj_hp_relaxed.owl inter-otic line|otic line|inter-pinna line uberon owl:Class HP:0410305 biolink:NamedThing Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 22:04:21+00:00 owl:Class HP:0030272 biolink:NamedThing Abnormal erythrocyte enzyme level An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022545 owl:Class HP:0033422 biolink:NamedThing Pulmonary artery adventitial fibrosis Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 17:30:36+00:00 peter owl:Class CHEBI:142533 biolink:NamedThing ->4)-alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp-yl group An organic group forming part of, and a proposed epitope within, globoside GM1. tmpxe7fu0cj_hp_relaxed.owl ->4)-alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-beta-D-Glc-yl|->4)-alpha-D-galactosyl-(1->4)-beta-D-galactosylp-(1->4)-beta-D-glucosyl|->4)-alpha-D-galactopyranosyl-(1->4)-beta-D-galactopyranosylp-(1->4)-beta-D-glucopyranosyl|->4)-alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-beta-D-Glc-yl group 0 C18H30O15 486.423 486.15847 *[C@@H]1O[C@@H]([C@@H](O[C@@H]2O[C@@H]([C@H](O[C@@H]3[C@@H]([C@@H](O)[C@H]([C@@H](CO)O3)O*)O)[C@@H]([C@H]2O)O)CO)[C@@H]([C@H]1O)O)CO PMID:7691279 chebi_ontology owl:Class HP:0005010 biolink:NamedThing Osteomyelitis leading to amputation due to slow healing fractures tmpxe7fu0cj_hp_relaxed.owl UMLS:C1864975 human_phenotype owl:Class NBO:0000086 biolink:NamedThing novelty response behavior "Behavior related to the exploration/investigation of a novel object, situation or environment." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T01:20:02Z George Gkoutos behavior_ontology owl:Class HP:0040155 biolink:NamedThing Elevated urinary 3-hydroxybutyric acid An increased amount of 3-hydroxybutyric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022414 HPO:skoehler owl:Class HP:0011407 biolink:NamedThing Proportionate tall stature tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023371 peter 2012-03-15T09:47:20Z human_phenotype owl:Class HP:0004003 biolink:NamedThing Medially flattened radial epiphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025454 human_phenotype owl:Class PR:Q00342 biolink:NamedThing receptor-type tyrosine-protein kinase FLT3 (mouse) A receptor-type tyrosine-protein kinase FLT3 that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl Flk-2|fetal liver kinase 2 (mouse)|CD135 (mouse)|mFLT3|Flt3|FLK-2 (mouse)|FL cytokine receptor (mouse)|fms-like tyrosine kinase 3 (mouse)|FLT-3 (mouse)|Flt-3|tyrosine-protein kinase receptor flk-2 (mouse) UniProtKB:Q00342 Category=organism-gene. protein owl:Class HP:0004019 biolink:NamedThing Radial metaphyseal irregularity Irregularity of the normally smooth surface of the metaphysis of the radius. tmpxe7fu0cj_hp_relaxed.owl Irregular radial metaphysis UMLS:C4021692 human_phenotype owl:Class HP:0025132 biolink:NamedThing Abnormal circulating estrogen level A deviation from normal concentration of the hormone estrogen in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating oestrogen level|Abnormal estrogen level|Abnormal oestrogen level 2016-11-27 13:46:29+00:00 Clinical estrogen tests measure one of three components: estrone (E1), estradiol (E2), or estriol (E3). HPO:probinson owl:Class GO:0045778 biolink:NamedThing positive regulation of ossification Any process that activates or increases the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpxe7fu0cj_hp_relaxed.owl positive regulation of bone formation|activation of ossification|upregulation of ossification|positive regulation of bone biosynthesis|stimulation of ossification|up-regulation of ossification|up regulation of ossification biological_process owl:Class HP:0100234 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the innermost bone of the pinkie toe|Triangular end part of the innermost bone of the pinky toe|Triangular end part of the innermost bone of the little toe UMLS:C4022187 doelkens 2010-06-24T05:04:53Z human_phenotype owl:Class HP:0009981 biolink:NamedThing Partial duplication of the distal phalanx of the 4th finger Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. tmpxe7fu0cj_hp_relaxed.owl Bifid terminal phalanx of the 4th finger|Partial duplication of the outermost bone of the ring finger|Notched outermost bone of the ring finger UMLS:C4021355 doelkens 2009-05-26T02:20:37Z human_phenotype owl:Class HP:0031716 biolink:NamedThing Cyclic exotropia A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 13:31:56+00:00 peter owl:Class HP:0011788 biolink:NamedThing Increased circulating free T3 An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased circulating free triiodothyronine|Increased serum free triiodothyronine|Increased serum fT3|Increased serum free T3 UMLS:C4021843 peter 2012-04-22T06:31:08Z owl:Class HP:0025314 biolink:NamedThing Choroidal nevus A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia. tmpxe7fu0cj_hp_relaxed.owl 2016-12-21 01:54:28+00:00 HPO:probinson owl:Class HP:0100355 biolink:NamedThing Contractures of the distal interphalangeal joint of the 5th toe The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl Contracture of the outermost hinge joint of the 5th toe UMLS:C4022130 human_phenotype owl:Class NBO:0000120 biolink:NamedThing physical aggression behavior "An aggressive behavior that aims to inflicting damage on another entity using physical means." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl violent behaviour|physical aggression behaviour 2011-03-31T11:14:04Z George Gkoutos behavior_ontology owl:Class NBO:0000741 biolink:NamedThing aggressive behavior by means tmpxe7fu0cj_hp_relaxed.owl 2012-02-16T01:16:31Z gkoutos behavior_ontology owl:Class UBERON:0015813 biolink:NamedThing middle ear epithelium An epithelium that is part of a middle ear. tmpxe7fu0cj_hp_relaxed.owl MA:0003169|EMAPA:35673 uberon owl:Class HP:0001408 biolink:NamedThing Bile duct proliferation Proliferative changes of the bile ducts. tmpxe7fu0cj_hp_relaxed.owl Proliferation of bile canaliculi SNOMEDCT_US:20239009|UMLS:C0267818 human_phenotype owl:Class HP:0031804 biolink:NamedThing Premacular hemorrhage tmpxe7fu0cj_hp_relaxed.owl Premacular haemorrhage 2018-03-07 15:32:12+00:00 peter owl:Class HP:0025240 biolink:NamedThing Preretinal hemorrhage An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. tmpxe7fu0cj_hp_relaxed.owl Preretinal haemorrhage|Preretinal heme 2016-12-17 00:54:15+00:00 Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians often use the terms interchangeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident. HPO:probinson owl:Class HP:0031669 biolink:NamedThing Middiastolic murmur A murmur that occurs in the middle of the diastolic phase. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 16:22:29+00:00 A middiastolic murmur may indicate mitral stenosis. peter owl:Class CHEBI:90318 biolink:NamedThing EC 6.4.1.1 (pyruvate carboxylase) inhibitor An EC 6.4.1.* (carboxylase) inhibitor that interferes with the action of pyruvate carboxylase (EC 6.4.1.1). tmpxe7fu0cj_hp_relaxed.owl pyruvate carboxylase (EC 6.4.1.1) inhibitor|EC 6.4.1.1 inhibitors|pyruvate:carbon-dioxide ligase (ADP-forming) inhibitors|pyruvate:carbon-dioxide ligase (ADP-forming) inhibitor|pyruvic carboxylase inhibitor|EC 6.4.1.1 (pyruvate carboxylase) inhibitors|pyruvate carboxylase inhibitors|pyruvate carboxylase inhibitor|pyruvic carboxylase inhibitors|pyruvate carboxylase (EC 6.4.1.1) inhibitors|EC 6.4.1.1 inhibitor Wikipedia:Pyruvate_carboxylase chebi_ontology owl:Class CHEBI:76824 biolink:NamedThing EC 6.4.1.* (carboxylase) inhibitor An EC 6.4.* (C-C bond-forming ligase) inhibitor that interferes with the action of a carboxylating enzyme (EC 6.4.1.*). tmpxe7fu0cj_hp_relaxed.owl inhibitor of ligases forming C-C bonds|inhibitors of ligases forming C-C bonds|EC 6.4.1.* (C-C bond-forming ligase) inhibitors|inhibitors of ligases forming C-C bonds (EC 6.4.1.*)|inhibitor of ligases forming C-C bonds (EC 6.4.1.*)|EC 6.4.1.* (C-C bond forming ligase) inhibitors|EC 6.4.1.* inhibitor|EC 6.4.1.* inhibitors|EC 6.4.1.* (C-C bond forming ligase) inhibitor|EC 6.4.1.* (carboxylase) inhibitors chebi_ontology owl:Class HP:0031613 biolink:NamedThing Inferior chorioretinal coloboma Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus. tmpxe7fu0cj_hp_relaxed.owl 2017-12-16 12:49:21+00:00 peter owl:Class PR:P35461 biolink:NamedThing lymphocyte antigen 6G (mouse) A lymphocyte antigen 6G that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl Ly-6G.1 (mouse)|Ly-6G (mouse)|mLy6g|Ly6g UniProtKB:P35461 Category=organism-gene. protein owl:Class HP:0025284 biolink:NamedThing Sleep-interrupting Applied to pain that wakes the affecting individual from sleep. tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 15:26:21+00:00 HPO:probinson owl:Class HP:0200028 biolink:NamedThing Pretibial myxedema A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet. tmpxe7fu0cj_hp_relaxed.owl Graves dermopathy SNOMEDCT_US:237825005|UMLS:C0342554|UMLS:C0033103|SNOMEDCT_US:78146007 sebastiankohler 2010-06-17T02:32:36Z human_phenotype owl:Class PATO:0002254 biolink:NamedThing flattened A quality inhering in a bearer by virtue of the bearer's surface becoming more extended in a plane. tmpxe7fu0cj_hp_relaxed.owl compressed Becoming flat but not necessarily completely flat. 2010-08-16T03:59:34Z quality owl:Class PATO:0001591 biolink:NamedThing curvature A surface shape quality inhering in a bearer by virtue of the bearer's exhibiting a degree of bending. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0034035 biolink:NamedThing Pharyngeal exudate Fluid exuded from the posterior wall of the pharynx. tmpxe7fu0cj_hp_relaxed.owl Fluid from the pharynx|Pharyngeal fluid 2021-09-24 13:44:05+00:00 peter owl:Class HP:0009303 biolink:NamedThing Osteolytic defects of the distal phalanx of the 4th finger Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024457 doelkens 2009-01-08T04:41:33Z human_phenotype owl:Class HP:0410148 biolink:NamedThing Idiopathic anaphylaxis A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment. tmpxe7fu0cj_hp_relaxed.owl 2018-03-12 21:12:08+00:00 owl:Class HP:0012432 biolink:NamedThing Chronic fatigue Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. tmpxe7fu0cj_hp_relaxed.owl Chronic extreme exhaustion|Chronic fatigue UMLS:C0518656 Note that chronic fatigue can be a symptom of chronic fatigue syndrome (CFS), which is characterized by profound fatigue that is not improved by bed rest and that may be worsened by physical or mental activity. Symptoms of CFS may include weakness, muscle pain, impaired memory, impaired mental concentration, and insomnia, which can result in reduced participation in daily activities. peter 2013-11-13T07:49:08Z owl:Class HP:0011137 biolink:NamedThing Non-pruritic urticaria Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus. tmpxe7fu0cj_hp_relaxed.owl Non-itchy hives UMLS:C4023519 Although the English-language names for uritcaria and non-pruritic urticaria are very similar these are treated as distinct lesions. Non-pruritic urticaria should not be considered to be a subclass of urticaria, because the latter is characterized by pruritus. peter 2011-06-19T02:17:55Z human_phenotype owl:Class HP:0002923 biolink:NamedThing Rheumatoid factor positive The presence in the serum of an autoantibody directed against the Fc portion of IgG. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0151379|SNOMEDCT_US:165839004 owl:Class HP:0030866 biolink:NamedThing Large knee Abnormally increased size of the knee joint. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280736 owl:Class HP:0030582 biolink:NamedThing Pinhole visual acuity 2.0 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073055 owl:Class GO:0042415 biolink:NamedThing norepinephrine metabolic process The chemical reactions and pathways involving norepinephrine, a hormone secreted by the adrenal medulla, and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts in the central nervous system. It is also the demethylated biosynthetic precursor of epinephrine. tmpxe7fu0cj_hp_relaxed.owl norepinephrine metabolism|levarterenol metabolic process|noradrenaline metabolism|noradrenaline metabolic process|levarterenol metabolism biological_process owl:Class HP:0030215 biolink:NamedThing Inappropriate crying Uncontrolled episodes of crying, without apparent motivating stimuli. tmpxe7fu0cj_hp_relaxed.owl Inappropriate crying UMLS:C0860609 owl:Class GO:0005753 biolink:NamedThing mitochondrial proton-transporting ATP synthase complex A proton-transporting ATP synthase complex found in the mitochondrial membrane. tmpxe7fu0cj_hp_relaxed.owl mitochondrial respiratory chain complex V GO:0016470 cellular_component owl:Class GO:0098800 biolink:NamedThing inner mitochondrial membrane protein complex Any protein complex that is part of the inner mitochondrial membrane. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0025050 biolink:NamedThing Elevated brain creatine level by MRS An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl Elevated brain creatine level by magnetic resonance spectroscopy 2016-09-26 08:46:45+00:00 HPO:probinson owl:Class GO:0071870 biolink:NamedThing cellular response to catecholamine stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a catecholamine stimulus. A catecholamine is any of a group of biogenic amines that includes 4-(2-aminoethyl)pyrocatechol [4-(2-aminoethyl)benzene-1,2-diol] and derivatives formed by substitution. tmpxe7fu0cj_hp_relaxed.owl mah 2010-09-13T02:54:50Z biological_process owl:Class HP:0032084 biolink:NamedThing Aortic elastic fiber thinning A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers. tmpxe7fu0cj_hp_relaxed.owl Aortic elastic fibre thinning 2018-10-14 14:57:36+00:00 A healthy aorta has dense elastic fibers comprising each lamella. This term describes the elastic network as being thinned at each lamella with narrower and more frayed apart elastic fibers. This entity may be associated with an increase in extracellular matrix material in the lamellar unit. The use of an elastic stain is essential to identify this lesion. peter owl:Class UBERON:0004904 biolink:NamedThing neuron projection bundle connecting eye with brain A neuron projection bundle that connects the retina or its analog in the eye with the brain. This includes the vertebrate optic nerve (not truly a nerve) as well as analogous structures such as the Bolwig nerve in Drosophila. tmpxe7fu0cj_hp_relaxed.owl optic nerve (generic)|optic nerve FBbt:00001956|TADS:0000232|EV:0100351|BTO:0000966 for the vertebrate-specific structure, see UBERON:0000941 (cranial nerve II) uberon owl:Class HP:0006641 biolink:NamedThing Prominent floating ribs tmpxe7fu0cj_hp_relaxed.owl Prominent floating ribs UMLS:C4025012 human_phenotype owl:Class GO:0043537 biolink:NamedThing negative regulation of blood vessel endothelial cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of the migration of the endothelial cells of blood vessels. tmpxe7fu0cj_hp_relaxed.owl down regulation of blood vessel endothelial cell migration|down-regulation of blood vessel endothelial cell migration|downregulation of blood vessel endothelial cell migration|inhibition of blood vessel endothelial cell migration biological_process owl:Class UBERON:0035159 biolink:NamedThing entire surface of organism Anatomical surface, which is the external surface of the whole body. Examples: There is only one body surface. tmpxe7fu0cj_hp_relaxed.owl surface of body UMLS:C0489451|NCIT:C29667|FMA:61695|SCTID:261060002 uberon owl:Class HP:0000743 biolink:NamedThing Frontal release signs Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes. tmpxe7fu0cj_hp_relaxed.owl Frontal release reflexes UMLS:C1833297 HP:0006911 human_phenotype owl:Class PATO:0002044 biolink:NamedThing trapezoid A shape quality inhering in a bearer by virtue of the bearer's being a quadrilateral with two parallel sides. tmpxe7fu0cj_hp_relaxed.owl trapezoidal quality owl:Class CHEBI:33504 biolink:NamedThing alkali metal cation tmpxe7fu0cj_hp_relaxed.owl alkali metal cations chebi_ontology owl:Class HP:0031667 biolink:NamedThing Holosystolic murmur A heart murmur that occurs during the entire systolic phase from S1 to S2. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 16:20:33+00:00 peter owl:Class HP:0031664 biolink:NamedThing Systolic heart murmur A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 16:16:41+00:00 peter owl:Class UBERON:0005146 biolink:NamedThing metanephric nephron tubule A metanephric nephron tubule is an epithelial tube that is part of the metanephric nephron, the functional part of the metanephros[GO]. tmpxe7fu0cj_hp_relaxed.owl UBERON:0005128|UBERON:0005152 uberon owl:Class HP:0033199 biolink:NamedThing Increased circulating interleukin 10 An elevation of the concentration of interleukin 10 in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased serum interleukin 10 2020-10-11 12:18:51+00:00 IL-10 is an anti-inflammatory cytokine. During infection it inhibits the activity of Th1 cells, NK cells, and macrophages, all of which are required for optimal pathogen clearance but also contribute to tissue damage. In consequence, IL-10 can both impede pathogen clearance and ameliorate immunopathology. peter owl:Class HP:0002501 biolink:NamedThing Spasticity of pharyngeal muscles tmpxe7fu0cj_hp_relaxed.owl UMLS:C1853398 owl:Class HP:0009067 biolink:NamedThing Progressive spinal muscular atrophy Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. tmpxe7fu0cj_hp_relaxed.owl Progressive spinal muscle wasting|Progressive spinal muscle degeneration UMLS:C4082951 human_phenotype owl:Class UBERON:0010527 biolink:NamedThing cavity of bone organ An organ cavity that surrounded_by a bone. tmpxe7fu0cj_hp_relaxed.owl bone organ cavity FMA:24021 uberon owl:Class HP:0033085 biolink:NamedThing Reduced antral follicle count A count of antral follicles that is lower than normal for age. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0100167 biolink:NamedThing Triangular epiphysis of the proximal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the innermost bone of the 3rd toe UMLS:C4022254 doelkens 2010-06-24T10:24:45Z human_phenotype owl:Class GO:0061972 biolink:NamedThing dermal bone morphogenesis The process in which bone which forms superficially in the organism are generated and organized. tmpxe7fu0cj_hp_relaxed.owl dph 2018-02-12T18:16:21Z biological_process owl:Class PATO:0002226 biolink:NamedThing subcylindrical A cylindrical shape quality inhering in a bearer by virtue of the bearer's being imperfectly cylindrical or approximately cylindrical. tmpxe7fu0cj_hp_relaxed.owl 2010-07-13T04:22:30Z quality owl:Class HP:0010793 biolink:NamedThing Bifid nail A digit with two nails, with at least some soft tissue between them. tmpxe7fu0cj_hp_relaxed.owl Notched nail|duplicated nail SNOMEDCT_US:110992006|UMLS:C0544857 sdoelken 2010-05-04T10:34:02Z human_phenotype owl:Class CHEBI:36299 biolink:NamedThing tricarboxylic acid monoanion tmpxe7fu0cj_hp_relaxed.owl tricarboxylic acid monoanions chebi_ontology owl:Class UBERON:0012480 biolink:NamedThing cloacal mucosa A mucosa that is part of a cloaca [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucosa of organ of cloaca|organ mucosa of cloaca|cloaca organ mucosa|cloacal mucous membrane|mucosa of cloaca|cloaca mucosa|cloaca mucosa of organ|mucous membrane of cloaca|cloaca mucous membrane UBERON:0003349 uberon owl:Class HP:0001413 biolink:NamedThing Micronodular cirrhosis A type of cirrhosis characterized by the presence of small regenerative nodules. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:21861000|UMLS:C0267812 In micronodular cirrhosis (Laennec's cirrhosis or portal cirrhosis) regenerating nodules are under 3 mm. This finding can be demonstrated by liver biopsy. human_phenotype owl:Class HP:0001394 biolink:NamedThing Cirrhosis A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. tmpxe7fu0cj_hp_relaxed.owl Liver cirrhosis|Hepatic cirrhosis|Scar tissue replaces healthy tissue in the liver SNOMEDCT_US:19943007|MSH:D008103|UMLS:C0023890 Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies. owl:Class HP:0033555 biolink:NamedThing Anti-Ro/SS-A antibody positivity The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens. tmpxe7fu0cj_hp_relaxed.owl Anti-Ro/SSA antibody positivity 2021-01-23 11:41:41+00:00 Anti-Ro/SS-A antibodies alone are found in 50-70% of Sjoegren syndrome and 30% of systemic lupus erythematosus (SLE) with cutaneous involvement. peter owl:Class HP:0000633 biolink:NamedThing Decreased lacrimation Abnormally decreased lacrimation, that is, reduced ability to produce tears. tmpxe7fu0cj_hp_relaxed.owl Decreased tear secretion UMLS:C0235857 human_phenotype owl:Class HP:0012260 biolink:NamedThing Abnormal central microtubular pair morphology of respiratory motile cilia A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022985 The central microtubular pair is referred to as the central part of axoneme of cilium. peter 2013-04-07T09:58:27Z human_phenotype owl:Class HP:0000275 biolink:NamedThing Narrow face Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). tmpxe7fu0cj_hp_relaxed.owl Thin facies|Decreased width of face|Horizontal deficiency of face|Transverse insufficiency of face|Narrow facies|Horizontal hypoplasia of face|Transverse hypoplasia of face|Horizontal insufficiency of face|Narrow face|Decreased horizontal dimension of face|Transverse deficiency of face|Decreased breadth of face|Thin face|Decreased transverse dimension of face UMLS:C1849121|UMLS:C1837463 Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. HP:0000318 human_phenotype owl:Class HP:0030977 biolink:NamedThing Increased factor VIII activity Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. tmpxe7fu0cj_hp_relaxed.owl 2017-05-10 23:00:13+00:00 Levels of Factor VIII above 250 IU/dL are associated with an increased risk of venous thrombosis. robinp owl:Class HP:0030976 biolink:NamedThing Abnormal factor VIII activity A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. tmpxe7fu0cj_hp_relaxed.owl 2017-05-10 22:59:20+00:00 robinp owl:Class HP:0011925 biolink:NamedThing Decreased activity of mitochondrial ATP synthase complex A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain. tmpxe7fu0cj_hp_relaxed.owl Respiratory complex deficiency, ATPase deficiency UMLS:C4020737|UMLS:C4023125 peter 2012-06-08T09:08:42Z human_phenotype owl:Class GO:0071345 biolink:NamedThing cellular response to cytokine stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. tmpxe7fu0cj_hp_relaxed.owl mah 2009-12-11T02:41:12Z biological_process owl:Class UBERON:0004426 biolink:NamedThing proximal epiphysis of fifth metacarpal bone A proximal epiphysis that is part of a metacarpal bone of digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of fifth metacarpal bone|fifth metacarpal bone base|proximal epiphysis of metacarpal 5|proximal end of fifth metacarpal bone FMA:42800 uberon owl:Class HP:0010106 biolink:NamedThing Aplasia of the proximal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Absent innermost bone of big toe UMLS:C4024047 doelkens 2009-05-29T12:43:40Z human_phenotype owl:Class HP:0010085 biolink:NamedThing Aplasia/Hypoplasia of the proximal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Absent/small innermost big toe bone|Absent/underdeveloped innermost big toe bone UMLS:C4024061 doelkens 2009-05-29T12:17:16Z human_phenotype owl:Class HP:0002582 biolink:NamedThing Atrophic gastritis Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue. tmpxe7fu0cj_hp_relaxed.owl Chronic atrophic gastritis MSH:D005757|SNOMEDCT_US:84568007|UMLS:C0017154 Atrophy of the gastric mucosa is the endpoint of chronic processes, such as chronic gastritis associated with Helicobacter pylori (H. pylori) infection, other unidentified environmental factors, and autoimmunity directed against gastric glandular cells. owl:Class HP:0008986 biolink:NamedThing Agenesis of the diaphragm Congenital lack, i.e., aplasia of the diaphragm. tmpxe7fu0cj_hp_relaxed.owl Agenesis of diaphragm|Absent diaphragm UMLS:C0221360|SNOMEDCT_US:702613006|SNOMEDCT_US:72424001 An extremely large diaphragmatic defect, or apparent absence of the hemidiaphragm, is called agenesis of the diaphragm; this defect probably represents the severe end of the Bochdalek hernia spectrum rather than a distinct entity. human_phenotype owl:Class HP:0100329 biolink:NamedThing Tarsometatarsal synostosis tmpxe7fu0cj_hp_relaxed.owl Fused bones of the midfoot UMLS:C4022144 doelkens 2010-10-08T03:53:06Z human_phenotype owl:Class HP:0008475 biolink:NamedThing Hypoplastic sacral vertebrae tmpxe7fu0cj_hp_relaxed.owl UMLS:C2751479 human_phenotype owl:Class HP:0002592 biolink:NamedThing Gastric ulcer An ulcer, that is, an erosion of an area of the gastric mucous membrane. tmpxe7fu0cj_hp_relaxed.owl Stomach ulcer MEDDRA:10017822|SNOMEDCT_US:397825006|MSH:D013276|UMLS:C0038358 The presence of a mucosal erosion equal to or greater than 0.5 cm. human_phenotype owl:Class HP:0004398 biolink:NamedThing Peptic ulcer An ulcer of the gastrointestinal tract. tmpxe7fu0cj_hp_relaxed.owl Sore in the lining of gastrointestinal tract MSH:D010437|SNOMEDCT_US:13200003|UMLS:C0030920 A peptic ulcer is defined as an erosion of the mucosa of the gastrointestinal tract, and can occur as esophageal ulcer, gastric ulcer, duodenal ulcer, and Meckel's Diverticulum ulcer. peter 2008-03-18T09:14:00Z human_phenotype owl:Class HP:0031593 biolink:NamedThing Abnormal PR interval An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds. tmpxe7fu0cj_hp_relaxed.owl 2017-10-15 13:27:21+00:00 The PR interval begins at the onset of the P wave and ends at the onset of the QRS complex. This interval reflects the time the impulse takes to reach the ventricles from the sinus node. In contrast, the PR segment begins at the endpoint of the P wave and ends at the onset of the QRS complex. It reflects the conduction from the atrioventricular node, down the bundle of His and through the bundle branches to the muscle. peter owl:Class HP:0007052 biolink:NamedThing Multifocal cerebral white matter abnormalities tmpxe7fu0cj_hp_relaxed.owl UMLS:C1833434 ORCID:0000-0002-5316-1399 human_phenotype owl:Class HP:0030932 biolink:NamedThing 1-minute APGAR score of 5 tmpxe7fu0cj_hp_relaxed.owl 2016-11-07 18:16:35+00:00 robinp owl:Class UBERON:0011159 biolink:NamedThing primary subdivision of cranial skeletal system tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0009077 biolink:NamedThing Weakness of long finger extensor muscles tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024601 human_phenotype owl:Class UBERON:0035075 biolink:NamedThing thymus subunit tmpxe7fu0cj_hp_relaxed.owl lobe or lobule of thymus FMA:71193 uberon owl:Class CHEBI:24281 biolink:NamedThing glucosyl group A glycosyl group obtained by removing the hydroxy group from the hemiacetal function of a glucose and, by extension, of a lower oligosaccharide having glucose at the reducing end. tmpxe7fu0cj_hp_relaxed.owl glucosyl groups chebi_ontology owl:Class HP:0031010 biolink:NamedThing Hyperphalangy of the 3rd finger An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint. tmpxe7fu0cj_hp_relaxed.owl Hyperphalangy of third finger 2017-05-13 21:44:05+00:00 peter owl:Class HP:0011688 biolink:NamedThing Supraventricular tachycardia with an accessory connection mediated pathway Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism. tmpxe7fu0cj_hp_relaxed.owl Supraventricular tachycardia with an accessory connexion mediated pathway|Atrioventricular re-entry tachycardia UMLS:C4021132 peter 2012-04-10T10:33:56Z human_phenotype owl:Class HP:0002342 biolink:NamedThing Intellectual disability, moderate Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49. tmpxe7fu0cj_hp_relaxed.owl Moderate mental deficiency|Moderate mental retardation|Mental retardation, moderate|IQ between 34 and 49 UMLS:C0026351|SNOMEDCT_US:61152003 HP:0007303 human_phenotype owl:Class HP:0011091 biolink:NamedThing Gemination The development of two teeth from a single tooth bud, leading to a larger fused tooth. tmpxe7fu0cj_hp_relaxed.owl Gemination of tooth|Splitting of crown of tooth UMLS:C0266033|SNOMEDCT_US:40273006 If the fused tooth is counted singly, then the total number of teeth is normal with gemination. Usually, there is a larger dental crown with a single root and single canal. peter 2011-03-11T02:19:11Z owl:Class HP:0011089 biolink:NamedThing Double tooth Fusion of two adjacent teeth. tmpxe7fu0cj_hp_relaxed.owl Teeth, double|Twinning tooth|Conjoined teeth|Double tooth UMLS:C0016873|SNOMEDCT_US:1744008|MSH:D005671 The fusion can be complete or be limited to the crown or the root. Typically, incisors and canines form double teeth. Double teeth are more common in the deciduous dentition and rare in the permanent dentition. Double teeth encompasses fusion, concrescence, and gemination of teeth, which some authors describe with the twinning. peter 2011-03-11T02:13:26Z owl:Class HP:0001444 biolink:NamedThing Autosomal dominant somatic cell mutation Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025781 human_phenotype owl:Class HP:0003858 biolink:NamedThing Cortical diaphyseal irregularity of the upper limbs tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025549 human_phenotype owl:Class HP:0009312 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 4th finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024450 doelkens 2009-01-08T05:11:48Z HP:0004202 human_phenotype owl:Class HP:0025106 biolink:NamedThing Nevus roseus A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life. tmpxe7fu0cj_hp_relaxed.owl 2016-10-28 23:53:08+00:00 HPO:probinson owl:Class CHEBI:3892 biolink:NamedThing corticotropin A polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. The N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Corticotropin stimulates the cortex of the adrenal gland and boosts the synthesis of corticosteroids, mainly glucocorticoids but also sex steroids (androgens). It is used in the treatment of certain neurological disorders such as infantile spasms and multiple sclerosis, and diagnostically to investigate adrenocortical insufficiency. tmpxe7fu0cj_hp_relaxed.owl Corticotropin|L-seryl-L-tyrosyl-L-seryl-L-methionyl-L-alpha-glutamyl-L-histidyl-L-phenylalanyl-L-arginyl-L-tryptophylglycyl-L-lysyl-L-prolyl-L-valylglycyl-L-lysyl-L-lysyl-L-arginyl-L-arginyl-L-prolyl-L-valyl-L-lysyl-L-valyl-L-tyrosyl-L-prolyl-L-alpha-aspartylglycyl-L-alanyl-L-alpha-glutamyl-L-alpha-aspartyl-L-alpha-glutamyl-L-seryl-L-alanyl-L-alpha-glutamyl-L-alanyl-L-phenylalanyl-L-prolyl-L-leucyl-L-alpha-glutamyl-L-phenylalanine|ACTH|Adrenocorticotropic hormone|corticotrophine|corticotropin|corticotrofina|adrenocorticotropin|corticotrophinum|cortrophin|SYSMEHFRWGKPVGKKRRPVKVYPDGAEDQLAEAFPLEF 0 C207H308N56O58S InChI=1S/C207H308N56O58S/c1-108(2)89-140(186(302)240-135(69-74-163(279)280)182(298)254-149(204(320)321)94-117-43-20-15-21-44-117)250-193(309)152-54-35-86-262(152)202(318)147(92-116-41-18-14-19-42-116)252-171(287)114(11)230-175(291)132(66-71-160(273)274)234-170(286)113(10)231-191(307)150(105-265)255-183(299)136(70-75-164(281)282)241-190(306)146(98-165(283)284)249-180(296)133(67-72-161(275)276)235-169(285)112(9)229-157(270)101-225-174(290)145(97-156(213)269)251-194(310)153-55-36-87-263(153)203(319)148(93-119-60-64-123(268)65-61-119)253-199(315)167(110(5)6)257-185(301)129(49-26-30-79-210)243-198(314)168(111(7)8)259-196(312)155-57-38-85-261(155)201(317)139(53-34-83-223-207(218)219)244-178(294)130(51-32-81-221-205(214)215)237-177(293)128(48-25-29-78-209)236-176(292)127(47-24-28-77-208)232-158(271)103-227-197(313)166(109(3)4)258-195(311)154-56-37-84-260(154)200(316)138(50-27-31-80-211)233-159(272)102-226-173(289)143(95-120-99-224-126-46-23-22-45-124(120)126)247-179(295)131(52-33-82-222-206(216)217)238-187(303)142(90-115-39-16-13-17-40-115)246-189(305)144(96-121-100-220-107-228-121)248-181(297)134(68-73-162(277)278)239-184(300)137(76-88-322-12)242-192(308)151(106-266)256-188(304)141(245-172(288)125(212)104-264)91-118-58-62-122(267)63-59-118/h13-23,39-46,58-65,99-100,107-114,125,127-155,166-168,224,264-268H,24-38,47-57,66-98,101-106,208-212H2,1-12H3,(H2,213,269)(H,220,228)(H,225,290)(H,226,289)(H,227,313)(H,229,270)(H,230,291)(H,231,307)(H,232,271)(H,233,272)(H,234,286)(H,235,285)(H,236,292)(H,237,293)(H,238,303)(H,239,300)(H,240,302)(H,241,306)(H,242,308)(H,243,314)(H,244,294)(H,245,288)(H,246,305)(H,247,295)(H,248,297)(H,249,296)(H,250,309)(H,251,310)(H,252,287)(H,253,315)(H,254,298)(H,255,299)(H,256,304)(H,257,301)(H,258,311)(H,259,312)(H,273,274)(H,275,276)(H,277,278)(H,279,280)(H,281,282)(H,283,284)(H,320,321)(H4,214,215,221)(H4,216,217,222)(H4,218,219,223)/t112-,113-,114-,125-,127-,128-,129-,130-,131-,132-,133-,134-,135-,136-,137-,138-,139-,140-,141-,142-,143-,144-,145-,146-,147-,148-,149-,150-,151-,152-,153-,154-,155-,166-,167-,168-/m0/s1 IDLFZVILOHSSID-OVLDLUHVSA-N 4541.06600 4538.25937 CSCC[C@H](NC(=O)[C@H](CO)NC(=O)[C@H](Cc1ccc(O)cc1)NC(=O)[C@@H](N)CO)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](Cc1cnc[nH]1)C(=O)N[C@@H](Cc1ccccc1)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](Cc1c[nH]c2ccccc12)C(=O)NCC(=O)N[C@@H](CCCCN)C(=O)N1CCC[C@H]1C(=O)N[C@@H](C(C)C)C(=O)NCC(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N1CCC[C@H]1C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](Cc1ccc(O)cc1)C(=O)N1CCC[C@H]1C(=O)N[C@@H](CC(N)=O)C(=O)NCC(=O)N[C@@H](C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](CC(O)=O)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](CO)C(=O)N[C@@H](C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](C)C(=O)N[C@@H](Cc1ccccc1)C(=O)N1CCC[C@H]1C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](Cc1ccccc1)C(O)=O Drug_Central:4931|DrugBank:DB01285|CAS:9002-60-2|KEGG:D00146|KEGG:C02017 chebi_ontology owl:Class HP:0031601 biolink:NamedThing P pulmonale The presence of tall, peaked P waves in EKG lead II. tmpxe7fu0cj_hp_relaxed.owl 2017-10-15 14:02:48+00:00 P pulomonale may indicate right atrial enlargement, usually due to pulmonary hypertension. peter owl:Class UBERON:0007602 biolink:NamedThing stratified columnar epithelium Stratified columnar epithelia is a rare type of epithelial tissue composed of column shaped cells arranged in multiple layers. Stratified columnar epithelia are found in the ocular conjunctiva of the eye, in parts of the pharynx and anus, the female's uterus, the male urethra and vas deferens. Also found in intralobular ducts in salivary glands.[WP]. tmpxe7fu0cj_hp_relaxed.owl epithelium stratificatum columnare NCIT:C33620|UMLS:C0836132|FMA:45564 uberon owl:Class NBO:0000097 biolink:NamedThing response to novel environment "Behavior related to the exploration/investigation of a novel environment." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-03-31T10:22:03Z George Gkoutos behavior_ontology owl:Class HP:0007428 biolink:NamedThing Telangiectasia of the oral mucosa Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa. tmpxe7fu0cj_hp_relaxed.owl Angioectasia of the oral mucous membrane|Spider veins of the oral mucosa|Angioectasia of the oral mucosa|Telangiectasia of the oral mucous membrane UMLS:C4024882 human_phenotype owl:Class HP:0001450 biolink:NamedThing Y-linked inheritance A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. tmpxe7fu0cj_hp_relaxed.owl Y-linked MSH:D050173|UMLS:C0814045 owl:Class HP:0004880 biolink:NamedThing Respiratory infections in early life Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025280 human_phenotype owl:Class HP:0030898 biolink:NamedThing Pruritis on abdomen Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen. tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0043436 biolink:NamedThing oxoacid metabolic process The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). tmpxe7fu0cj_hp_relaxed.owl ketoacid metabolism|keto acid metabolism|keto acid metabolic process|oxo acid metabolic process|oxo acid metabolism|ketoacid metabolic process|oxoacid metabolism biological_process owl:Class HP:0033159 biolink:NamedThing Reduced urinary inosine level Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. tmpxe7fu0cj_hp_relaxed.owl 2020-09-24 09:10:03+00:00 peter owl:Class HP:0003654 biolink:NamedThing Reduced dihydropyrimidine dehydrogenase level An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level. tmpxe7fu0cj_hp_relaxed.owl Dihydropyrimidine dehydrogenase deficiency MSH:D054067|UMLS:C4025582|UMLS:C1959620|SNOMEDCT_US:77365006 Pyrimidine 5-prime nucleotidase catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates to the corresponding nucleosides. human_phenotype owl:Class HP:0008445 biolink:NamedThing Cervical spinal canal stenosis An abnormal narrowing of the cervical spinal canal. tmpxe7fu0cj_hp_relaxed.owl Narrow cervical spinal canal UMLS:C1844925 human_phenotype owl:Class HP:0500104 biolink:NamedThing Decreased diastolic blood pressure Abnormal decrease in diastolic blood pressure. tmpxe7fu0cj_hp_relaxed.owl Decreased diastolic BP|Reduced diastolic blood pressure 2018-06-22 13:58:31+00:00 owl:Class HP:0003554 biolink:NamedThing Type 2 muscle fiber atrophy Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Type 2 muscle fibre atrophy|Type 2 fibre atrophy|Type 2 fiber atrophy UMLS:C1864580 This finding can be demonstrated by muscle biopsy. human_phenotype owl:Class HP:0009942 biolink:NamedThing Duplication of thumb phalanx Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Duplicated thumbs|Duplicated thumb|Duplication of phalanx of thumb|Complete/partial duplication of phalanges of the thumb UMLS:C4021370 doelkens 2009-05-15T12:51:02Z HP:0009661 human_phenotype owl:Class HP:0008131 biolink:NamedThing Tarsal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones. tmpxe7fu0cj_hp_relaxed.owl Punctate tarsal calcification|Punctate calcifications of tarsals UMLS:C1844848 human_phenotype owl:Class CHEBI:33306 biolink:NamedThing carbon group element atom tmpxe7fu0cj_hp_relaxed.owl cristallogene|group IV elements|carbon group element|carbon group elements|carbonoides|cristallogenes|group 14 elements chebi_ontology owl:Class HP:0200128 biolink:NamedThing Biventricular hypertrophy Thickening of the heart walls in both ventricles. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0281788 sebastiankohler 2013-06-11T11:28:46Z human_phenotype owl:Class HP:0030992 biolink:NamedThing Abnormal pancreatic duct morphology Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum. tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 13:51:20+00:00 The pancreas develops from dorsal and ventral buds that first appear in the fifth gestational week as outgrowths of the primitive foregut. By the seventh gestational week, expansion of the duodenum causes the ventral bud to rotate and pass behind the duodenum from right to left and fuse with the dorsal bud. The ventral bud forms the posterior head and uncinate process, whereas the dorsal bud forms the anterior head, body, and tail. Following this fusion, the ductal systems anastomose, a complicated process with a wide spectrum of possible outcomes. The portion of the ventral duct between the dorsal-ventral fusion and major papilla is termed the duct of Wirsung. The portion of the dorsal duct upstream to the dorsalventral fusion point is called the main pancreatic duct. The segment of the dorsal duct downstream to the dorsal-ventral fusion point is termed the duct of Santorini, or accessory pancreatic duct, which drains at the papilla minor [PMID:242655659]. peter owl:Class UBERON:0004581 biolink:NamedThing systemic venous system The part of the venous system that drains the general body tissues[Kardong]. tmpxe7fu0cj_hp_relaxed.owl systemic venous circulatory system Wikipedia:Systemic_venous_system|FMA:45626 uberon owl:Class Subdivision of cardiovascular system which has as its parts the right side of heart, the superior vena cava and the inferior vena cava[FMA]|In human anatomy, the systemic venous system refers to veins that drain into the right atrium without passing through two vascular beds (i.e. they originate from a set of capillaries and do not pass through a second set of capillaries before reaching the right side of the heart). The term systemic venous system is often used to differentiate veins from veins that drain the pulmonary system (the pulmonary venous system) and veins that drain the digestive tract (the portal venous system). Large veins that are considered part of the systemic venous system are the: Superior vena cava; Inferior vena cava[WP] The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] PR:P06744 biolink:NamedThing glucose-6-phosphate isomerase (human) A glucose-6-phosphate isomerase that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl autocrine motility factor (human)|GPI|sperm antigen 36 (human)|NLK (human)|phosphohexose isomerase (human)|hGPI|phosphoglucose isomerase (human)|AMF (human)|SA-36 (human)|PGI (human)|PHI (human)|neuroleukin (human) UniProtKB:P06744 Category=organism-gene. protein owl:Class PR:000008175 biolink:NamedThing glucose-6-phosphate isomerase A protein that is a translation product of the human GPI gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl NLK|GPI|SA-36|Gpi1|phosphohexose isomerase|neuroleukin|sperm antigen 36|PHI|phosphoglucose isomerase|AMF|PGI|autocrine motility factor Category=gene. protein owl:Class HP:0025346 biolink:NamedThing Increased circulating beta-2-microglobulin level Elevated concentration of beta-2-microglobulin in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating beta-2-microglobulin level 2017-02-12 13:53:51+00:00 HPO:probinson owl:Class HP:0025345 biolink:NamedThing Abnormality of circulating beta-2-microglobulin level A deviation from the normal concentration of beta-2-microglobulin in the blood. tmpxe7fu0cj_hp_relaxed.owl Abnormality of circulating beta2m level|Abnormality of circulating beta2 microglobulin level|Abnormality of circulating B2M level|Abnormality of circulating beta2-m level 2017-02-12 13:50:53+00:00 HPO:probinson owl:Class HP:0100531 biolink:NamedThing Wind-swept deformity of the knees The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other. tmpxe7fu0cj_hp_relaxed.owl Wind-swept deformity of the knees UMLS:C4022030 doelkens 2010-12-20T12:43:09Z human_phenotype owl:Class HP:0030408 biolink:NamedThing Pineoblastoma Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells. tmpxe7fu0cj_hp_relaxed.owl Pinealoblastoma UMLS:C0205898|SNOMEDCT_US:31671006|MSH:D010871 Pineoblastomas are rare, malignant, pineal region lesions that account for <0.1% of all intracranial tumors. Pineoblastomas harbor a poor prognosis and can metastasize along the neuroaxis. Although they typically appear radiographically as a focal enhancing mass, pineoblastomas can be locally invasive and spread outside the pineal region through the subarachnoid space. Pineoblastomas are more common in children than in adults, and adults account for <10% of patients. HP:0040193 owl:Class HP:0030694 biolink:NamedThing Pineal parenchymal cell neoplasm tmpxe7fu0cj_hp_relaxed.owl MSH:D010871|UMLS:C0031941|SNOMEDCT_US:127026004|SNOMEDCT_US:359619007|SNOMEDCT_US:47598005 owl:Class HP:0005495 biolink:NamedThing Metopic suture patent to nasal root The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025189 This feature is a characteristic of Schinzel-Giedion midface retraction syndrome. human_phenotype owl:Class HP:0033773 biolink:NamedThing Decreased RV/TLC ratio An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography. tmpxe7fu0cj_hp_relaxed.owl 2021-05-01 15:44:00+00:00 peter owl:Class UBERON:0004238 biolink:NamedThing spleen smooth muscle A portion of smooth muscle tissue that is part of a spleen [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl non-striated muscle of spleen|smooth muscle tissue of spleen|spleen smooth muscle tissue|smooth muscle of spleen|spleen non-striated muscle|spleen involuntary muscle|involuntary muscle of spleen EMAPA:35807|MA:0000757 uberon owl:Class HP:0025154 biolink:NamedThing Portosystemic collateral veins Presence of biliary veins that serve as a collateral channel to the systemic circulation tmpxe7fu0cj_hp_relaxed.owl Collateral biliary veins|Collateral biliary circulation 2016-12-03 22:24:40+00:00 Venous blood returning from the small intestine, stomach, pancreas and spleen converges into the portal vein. The terminal branches of the hepatic portal vein and hepatic artery empty together and mix as they enter sinusoids in the liver. Conditions such as liver cirrhosis, in which scar tissue partially blocks the normal flow of blood, may increases the pressure in the portal vein (portal hypertension).When blood flow through a vessel or a vascular bed is obstructed due to occlusion, collateral pathways open up as blood bypasses the occlusion or obstruction, and this can lead to portosystemic collateral veins in the case of cirrhosis and some other hepatobiliary diseases. HPO:probinson owl:Class HP:0033351 biolink:NamedThing Candida esophagitis Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain. tmpxe7fu0cj_hp_relaxed.owl Esophageal candidiasis 2020-11-30 22:27:14+00:00 peter owl:Class HP:0033164 biolink:NamedThing Focal active colitis Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation. tmpxe7fu0cj_hp_relaxed.owl 2020-09-24 09:27:12+00:00 Focal crypt injury by neutrophils (cryptitis/crypt abscesses), or focal active colitis (FAC), is a common isolated finding in endoscopic colorectal biopsies. Focal active colitis is often thought of as a feature of Crohn's disease, but may also be seen in ischemia, infections, partially treated ulcerative colitis, and as an isolated finding in patients undergoing endoscopy to exclude neoplasia. peter owl:Class HP:0033200 biolink:NamedThing Triceps hyporeflexia Reduced intensity of the triceps tendon reflex. tmpxe7fu0cj_hp_relaxed.owl Hyporeflexia of triceps 2020-10-11 14:23:20+00:00 peter owl:Class HP:0012104 biolink:NamedThing Parietal cortical atrophy Atrophy of the parietal cortex. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023041 peter 2012-09-08T02:50:05Z human_phenotype owl:Class HP:0100877 biolink:NamedThing Renal diverticulum Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. tmpxe7fu0cj_hp_relaxed.owl Renal pelvic diverticulum|Pelvic diverticulum|Caliceal diverticulum UMLS:C2315541|SNOMEDCT_US:433036004 doelkens 2011-12-01T02:29:09Z human_phenotype owl:Class HP:0030232 biolink:NamedThing Increased sarcoplasmic glycogen Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022566 owl:Class HP:0034055 biolink:NamedThing Anti-side-chain cleavage enzyme antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583). tmpxe7fu0cj_hp_relaxed.owl Anti-P450scc 2021-12-18 14:02:13+00:00 peter owl:Class HP:0012162 biolink:NamedThing Common carotid artery dissection A separation (dissection) of the layers of the common carotid artery wall. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023015 peter 2013-02-16T07:34:14Z human_phenotype owl:Class HP:0031063 biolink:NamedThing Impaired feeding ability Applies to an individual who needs partial or total help with feeding or requires parenteral feeding. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 22:24:24+00:00 peter owl:Class HP:0030689 biolink:NamedThing Decreased glucagon level A reduced concentration of glucagon in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1295678|SNOMEDCT_US:131107006 owl:Class HP:0009505 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 2nd finger Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the outermost bone of the index finger UMLS:C4024325 doelkens 2009-01-16T01:11:04Z human_phenotype owl:Class HP:0100431 biolink:NamedThing Broad distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Wide outermost bone of the 3rd toe|Broad outermost bone of the 3rd toe UMLS:C4022096 human_phenotype owl:Class PATO:0000643 biolink:NamedThing herniated A quality inhering in a bearer by virtue of the bearer's bodily structure that has protruded through an abnormal opening in the wall that contains it. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0010682 biolink:NamedThing Elevated placental alkaline phosphatase An abnormally increased level of alkaline phosphatase, placental type in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated placental ALP UMLS:C4023743 Placental alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 250, Uniprot P05187 (PPB1_HUMAN). doelkens 2010-03-05T11:11:06Z owl:Class HP:0002542 biolink:NamedThing Olivopontocerebellar atrophy Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus. tmpxe7fu0cj_hp_relaxed.owl Olivopontocerebellar degeneration SNOMEDCT_US:67761004|UMLS:C0028968|MSH:D009849 HP:0005683 owl:Class HP:0001650 biolink:NamedThing Aortic valve stenosis The presence of a stenosis (narrowing) of the aortic valve. tmpxe7fu0cj_hp_relaxed.owl Aortic stenosis|Narrowing of aortic valve|Valvular aortic stenosis Fyler:1411|UMLS:C0003507|MSH:D001024|SNOMEDCT_US:60573004 Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance. HP:0005140 owl:Class HP:0010536 biolink:NamedThing Central sleep apnea Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles. tmpxe7fu0cj_hp_relaxed.owl Central sleep apnoea UMLS:C0520680|MSH:D020182 peter 2009-09-21T08:57:02Z human_phenotype owl:Class HP:0001062 biolink:NamedThing Atypical nevus A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink. tmpxe7fu0cj_hp_relaxed.owl Atypical mole|Dysplastic Nevus SNOMEDCT_US:254818000|SNOMEDCT_US:61814002|MSH:D004416|UMLS:C0205748 Macular and papular areas may be present within a single lesion (also described as a fried egg appearance). The terms atypical moles and dysplastic nevi are used interchangeably, regardless of clinical or histologic appearance. human_phenotype owl:Class HP:0011440 biolink:NamedThing Alcohol-induced rhabdomyolysis Rhabdomyolysis induced by intake of alcohol. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023355 peter 2012-03-18T12:21:35Z human_phenotype owl:Class GO:0045926 biolink:NamedThing negative regulation of growth Any process that stops, prevents or reduces the rate or extent of growth, the increase in size or mass of all or part of an organism. tmpxe7fu0cj_hp_relaxed.owl downregulation of growth|inhibition of growth|down-regulation of growth|down regulation of growth biological_process owl:Class HP:0007989 biolink:NamedThing Intraretinal exudate Retinal exudate within the retinal tissue itself. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024758 human_phenotype owl:Class CL:0000118 biolink:NamedThing basket cell Basket cells are inhibitory GABAergic interneurons of the brain. In general, dendrites of basket cells are free branching and contain smooth spines. Axons are highly branched. The branched axonal arborizations give rise to basket-like structures that surround the soma of the target cell. Basket cells form axo-somatic synapses, meaning their synapses target somas of other cells. tmpxe7fu0cj_hp_relaxed.owl https://orcid.org/0000-0002-2825-0621 cell owl:Class CL:0000104 biolink:NamedThing multipolar neuron Neuron with an axon and two or more dendrites. tmpxe7fu0cj_hp_relaxed.owl FMA:67287 cell owl:Class UBERON:0004995 biolink:NamedThing mucosa of body of stomach A mucosa that is part of a body of stomach [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl organ mucosa of body of stomach|body of stomach mucosa of organ|mucosa of stomach body|mucosa of organ of stomach body|stomach body mucosa of organ|mucosa of organ of body of stomach|stomach body mucous membrane|corpus gastricum (ventriculare) organ mucosa|corpus gastricum (ventriculare) mucosa|mucous membrane of corpus gastricum (ventriculare)|corpus gastricum (ventriculare) mucous membrane|body of stomach mucous membrane|organ mucosa of stomach body|organ mucosa of corpus gastricum (ventriculare)|stomach body mucosa|body of stomach mucosa|body of stomach organ mucosa|organ mucosa of gastric body|stomach body organ mucosa|mucosa of organ of gastric body|corpus gastricum (ventriculare) mucosa of organ|gastric body mucosa|gastric body mucous membrane|gastric body mucosa of organ|mucosa of gastric body|mucous membrane of gastric body|mucous membrane of body of stomach|gastric body organ mucosa|mucosa of organ of corpus gastricum (ventriculare)|mucous membrane of stomach body|mucosa of corpus gastricum (ventriculare) FMA:17054 uberon owl:Class GO:2000794 biolink:NamedThing regulation of epithelial cell proliferation involved in lung morphogenesis Any process that modulates the frequency, rate or extent of epithelial cell proliferation involved in lung morphogenesis. tmpxe7fu0cj_hp_relaxed.owl pr 2011-06-25T07:22:38Z biological_process owl:Class UBERON:0007691 biolink:NamedThing gustatory pore The minute opening of a taste bud on the surface of the oral mucosa through which the gustatory hairs of the specialised neuroepithelial gustatory cells project. tmpxe7fu0cj_hp_relaxed.owl taste pore|porus gustatorius FMA:63589|UMLS:C0226971|NCIT:C33738|SCTID:368724008 Taste:bud.svg uberon owl:Class HP:0100647 biolink:NamedThing Graves disease An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients. tmpxe7fu0cj_hp_relaxed.owl Morbus Basedow MSH:D006111|SNOMEDCT_US:353295004|SNOMEDCT_US:55807009|UMLS:C0018213 doelkens 2010-12-29T06:08:53Z human_phenotype owl:Class HP:0011784 biolink:NamedThing Thyrotoxicosis with diffuse goiter tmpxe7fu0cj_hp_relaxed.owl Thyrotoxicosis with diffuse goitre UMLS:C0342122|SNOMEDCT_US:267374005 peter 2012-04-22T06:11:09Z human_phenotype owl:Class CHEBI:78121 biolink:NamedThing fatty acid anion 14:0 Any saturated fatty acid anion containing 14 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl fatty acid 14:0 -1 C14H27O2 227.36298 227.20111 [O-]C([*])=O chebi_ontology owl:Class GO:0032989 biolink:NamedThing cellular component morphogenesis The process in which cellular structures, including whole cells or cell parts, are generated and organized. tmpxe7fu0cj_hp_relaxed.owl cellular structure morphogenesis biological_process owl:Class UBERON:8400023 biolink:NamedThing liver subserosa Subserosal tissue of liver. A zone of areolar connective tissue lying beneath the serous coat of the liver and distinguished with difficulty from the fibrous capsule of Glisson. tmpxe7fu0cj_hp_relaxed.owl tela subserosa hepatis|subserous layer of liver|tela subserosa (hepar)|subserosal tissue of liver|hepatic subserosa https://orcid.org/0000-0003-2034-601X uberon owl:Class HP:0006543 biolink:NamedThing Cardiorespiratory arrest tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:410430005|MSH:D006323|UMLS:C0600228 human_phenotype owl:Class PATO:0000911 biolink:NamedThing decreased rate A rate which is relatively low. tmpxe7fu0cj_hp_relaxed.owl slow rate quality owl:Class GO:0005587 biolink:NamedThing collagen type IV trimer A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form 3 dimensional nets within basement membranes. tmpxe7fu0cj_hp_relaxed.owl Wikipedia:Collagen_type_IV cellular_component owl:Class GO:0098642 biolink:NamedThing network-forming collagen trimer A collagen trimer that forms networks. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0004629 biolink:NamedThing Small cervical vertebral bodies Reduced size of cervical vertebrae. tmpxe7fu0cj_hp_relaxed.owl Small cervical vertebrae UMLS:C1851130 HP:0008429 human_phenotype owl:Class HP:0010936 biolink:NamedThing Abnormality of the lower urinary tract An abnormality of the lower urinary tract. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023640 The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra. peter 2011-01-16T11:39:17Z human_phenotype owl:Class CHEBI:73398 biolink:NamedThing indole skeleton A mancude heterobicyclic organic group consisting of a benzene ring fused to a pyrrole ring. tmpxe7fu0cj_hp_relaxed.owl 0 C8N 110.09230 110.00307 C1(=C(C(=C2C(=C1*)N(C(=C2*)*)*)*)*)* chebi_ontology owl:Class HP:0025005 biolink:NamedThing Thickening of glomerular capillary wall Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. tmpxe7fu0cj_hp_relaxed.owl 2016-08-06 22:31:55+00:00 HPO:probinson owl:Class HP:0025006 biolink:NamedThing Abnormal glomerular capillary morphology A structural anomaly of the capillary blood vessels in the renal glomerulus. tmpxe7fu0cj_hp_relaxed.owl Abnormalities of the glomerular capillary wall 2016-08-06 22:53:26+00:00 HPO:probinson owl:Class HP:0031359 biolink:NamedThing Cutaneous sclerotic plaque A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening). tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 15:54:00+00:00 peter owl:Class HP:0005977 biolink:NamedThing Hypochloremic metabolic alkalosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C0740895 human_phenotype owl:Class HP:0100110 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the outermost bone of the 2nd toe UMLS:C4022311 doelkens 2010-06-24T10:04:20Z human_phenotype owl:Class UBERON:0034768 biolink:NamedThing morphological feature A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0025193 biolink:NamedThing Posterolateral diaphragmatic hernia A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity. tmpxe7fu0cj_hp_relaxed.owl Bochdalek hernia 2016-12-05 01:51:30+00:00 HPO:probinson owl:Class GO:2000155 biolink:NamedThing positive regulation of cilium-dependent cell motility Any process that activates or increases the frequency, rate or extent of cilium-dependent cell motility. tmpxe7fu0cj_hp_relaxed.owl positive regulation of ciliary cell motility mah 2010-10-04T12:41:05Z biological_process owl:Class HP:0030951 biolink:NamedThing Skeletal muscle fibrosis Excessive formation of fibrous bands of scar tissue in between muscle fibers. tmpxe7fu0cj_hp_relaxed.owl 2017-01-13 22:27:25+00:00 Pathophysiologic fibrosis, which is essentially an excessive accumulation of extracellular matrix components, particularly collagen, is the end result of a cascade of events proceeding from tissue injury via inflammation, and resulting in permanent scar formation. Fibrosis can impair tissue function. In skeletal muscle, fibrosis is most often associated with the muscular dystrophies. robinp owl:Class GO:0140112 biolink:NamedThing extracellular vesicle biogenesis The assembly and secretion a set of components to form an extracellular vesicule, a membrane-bounded vesicle that is released into the extracellular region. Extracellular vesicles include exosomes, microvesicles and apoptotic bodies, based on the mechanism by which they are released from cells and differentiated based on their size and content. tmpxe7fu0cj_hp_relaxed.owl extracellular vesicle assembly https://github.com/geneontology/go-ontology/issues/14256 pg 2017-10-23T11:53:42Z biological_process owl:Class HP:0032609 biolink:NamedThing Endocrine-type tubular atrophy A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. tmpxe7fu0cj_hp_relaxed.owl Renal tubular atrophy, endocrine-type|Endocrinization pattern of tubular atrophy peter owl:Class GO:0014025 biolink:NamedThing neural keel formation The formation of a thickened region of the neurectoderm that is roughly triangular in cross section. The neural keel develops from the neural plate and develops into the neural rod. Neural keel formation occurs during primary neurulation in teleosts. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0001033 biolink:NamedThing Facial flushing after alcohol intake tmpxe7fu0cj_hp_relaxed.owl Facial flushing after alcohol intake UMLS:C4025808 human_phenotype owl:Class GO:1901551 biolink:NamedThing negative regulation of endothelial cell development Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell development. tmpxe7fu0cj_hp_relaxed.owl inhibition of endothelial cell development|down regulation of endothelial cell development|downregulation of endothelial cell development|down-regulation of endothelial cell development pr 2012-10-30T12:59:54Z biological_process owl:Class HP:0025205 biolink:NamedThing Triggered by breast feeding Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant. tmpxe7fu0cj_hp_relaxed.owl Breastfeeding triggered symptoms|Triggered by breastfeeding 2016-12-10 13:41:09+00:00 HPO:probinson owl:Class HP:0033900 biolink:NamedThing Renal arteriole intima/media amyloidosis Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. tmpxe7fu0cj_hp_relaxed.owl Amyloidosis within renal arteriolar intima/media 2021-06-23 22:28:09+00:00 peter owl:Class GO:0002072 biolink:NamedThing optic cup morphogenesis involved in camera-type eye development The invagination of the optic vesicle to form two-walled indentations, the optic cups, that will go on to form the retina. This process begins with the optic vesicle becoming a two-walled structure and its subsequent shape changes. It does not include the fate commitment of cells to become the pigmented retina and the neural retina. An example of this process is found in Mus musculus. tmpxe7fu0cj_hp_relaxed.owl optic cup morphogenesis involved in camera-style eye development biological_process owl:Class HP:0001904 biolink:NamedThing Neutropenia in presence of anti-neutropil antibodies A type of neutropenia that is observed in the presence of granulocyte-specific antibodies. tmpxe7fu0cj_hp_relaxed.owl Autoimmune neutropenia UMLS:C0340971|SNOMEDCT_US:234425008 The antibodies are directed against the cell surface membrane and have no relationship with antineutrophil cytoplasmic antibodies (ANCAs) in the vast majority of cases. It is important to highlight that there are frequent difficulties in the detection of autoantibodies causing AIN due to the labile nature of granulocytes (not storable without activation and consequent autolysis). This type of neutropenia is commonly seen with autoimmune neutropenia of infancy (AIN), also called primary autoimmune neutropenia, is a disease in which antibodies recognize membrane antigens of neutrophils, mostly located on immunoglobulin G (IgG) Fc receptor type 3b (Fc-gamma-IIIb receptor), causing their peripheral destruction. human_phenotype owl:Class HP:0000488 biolink:NamedThing Retinopathy Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. tmpxe7fu0cj_hp_relaxed.owl Noninflammatory retina disease UMLS:C0035309|MSH:D012164|SNOMEDCT_US:29555009 human_phenotype owl:Class GO:0048636 biolink:NamedThing positive regulation of muscle organ development Any process that activates, maintains or increases the rate of muscle development. tmpxe7fu0cj_hp_relaxed.owl stimulation of muscle development|up-regulation of muscle development|activation of muscle development|up regulation of muscle development|upregulation of muscle development biological_process owl:Class GO:0051702 biolink:NamedThing biological process involved in interaction with symbiont An interaction between two organisms living together in more or less intimate association. The term symbiont is used for the smaller (macro) of the two members of a symbiosis; the various forms of symbiosis include parasitism, commensalism and mutualism. tmpxe7fu0cj_hp_relaxed.owl interaction with symbiont https://github.com/geneontology/go-ontology/issues/20191 biological_process owl:Class HP:0000451 biolink:NamedThing Triangular nasal tip tmpxe7fu0cj_hp_relaxed.owl Triangular nasal tip|Triangular shaped tip of nose UMLS:C1839765 human_phenotype owl:Class HP:4000020 biolink:NamedThing Anti-BP180 antibody positivity Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 14:29:45+00:00 The presence of autoantibodies (immunoglobulins) in the serum that react against BP180. robinp owl:Class HP:0005234 biolink:NamedThing Neonatal intestinal obstruction tmpxe7fu0cj_hp_relaxed.owl UMLS:C0859974 human_phenotype owl:Class HP:0012426 biolink:NamedThing Optic disc drusen Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. tmpxe7fu0cj_hp_relaxed.owl Optic nerve head drusen MSH:D015594|SNOMEDCT_US:33629003|UMLS:C0029128 Optic disc drusen can lead to an elevated disc and thus mimic disc swelling (pseudopapilledema). peter 2013-11-12T10:36:06Z owl:Class HP:0006409 biolink:NamedThing Progressive leg bowing Progressive bending or abnormal curvature of the leg. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855191 human_phenotype owl:Class HP:0006383 biolink:NamedThing Progressive bowing of long bones Progressive bending or abnormal curvature of a long bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857137 human_phenotype owl:Class CHEBI:546807 biolink:NamedThing beta-D-Galp-(1->3)-D-GalpNAc An amino disaccharide consisting of D-galactopyranose at the non-reducing end joined by a (1->3) glycosidic linkage to N-acetyl-D-galactopyranosamine. tmpxe7fu0cj_hp_relaxed.owl 2-(acetylamino)-2-deoxy-3-O-beta-D-galactopyranosyl-D-galactopyranose|beta-D-Gal-(1->3)-D-GalNAc|(Gal)1 (GalNAc)1|Galbeta1->3GalNAc|TF epitope|Galbeta1-3GalNAc|beta-D-galactopyranosyl-(1->3)-2-acetamido-2-deoxy-D-galactopyranose|beta-D-Galp-(1->3)-D-GalpNAc|beta-D-galactosyl-3-N-acetyl-D-galactosamine|2-acetamido-2-deoxy-3-O-beta-D-galactopyranosyl-D-galactopyranose|WURCS=2.0/2,2,1/[a2112h-1x_1-5_2*NCC/3=O][a2112h-1b_1-5]/1-2/a3-b1|Thomsen-Friedenreich epitope|beta-D-Galactopyranosyl-(1->3)-N-acetyl-D-galactosamine|beta-D-galactosyl-(1->3)-N-acetyl-D-galactosamine 0 C14H25NO11 InChI=1S/C14H25NO11/c1-4(18)15-7-12(9(20)6(3-17)24-13(7)23)26-14-11(22)10(21)8(19)5(2-16)25-14/h5-14,16-17,19-23H,2-3H2,1H3,(H,15,18)/t5-,6-,7-,8+,9+,10+,11-,12-,13?,14+/m1/s1 HMQPEDMEOBLSQB-UITYFYQISA-N 383.34840 383.14276 CC(=O)N[C@H]1C(O)O[C@H](CO)[C@H](O)[C@@H]1O[C@@H]1O[C@H](CO)[C@H](O)[C@H](O)[C@H]1O PMID:2055602|PMID:2470785|CAS:20972-29-6|GlyTouCan:G78436BB|PMID:16776550|PMID:15963963|GlyGen:G78436BB|PMID:3360006|PMID:9405387|PMID:11294842|Reaxys:4788642|PMID:1933953|PMID:19443021|PMID:19913595|PMID:7757427|PMID:11459848|PMID:1291050|PMID:59831|PMID:19506091|KEGG:G10607|KEGG:C07278|PMID:2461959|PMID:12472179|PMID:19221437|PMID:2584393|PMID:2457603|Beilstein:4788642|PMID:11425800|PMID:28188832 CHEBI:62468|CHEBI:10382|CHEBI:27716|CHEBI:22782|CHEBI:22773 chebi_ontology owl:Class HP:0033844 biolink:NamedThing Tachyphrenia The sensation that thoughts are moving too quickly. tmpxe7fu0cj_hp_relaxed.owl Racing thoughts 2021-05-30 21:10:50+00:00 peter owl:Class HP:0032702 biolink:NamedThing Focal cognitive seizure with expressive dysphasia/aphasia A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl Expressive dysphasia / aphasia is the inability to express one's thoughts despite being aware of what they wished to say because of a disorder of language rather than articulation. peter owl:Class HP:0012264 biolink:NamedThing Absent central microtubular pair morphology of respiratory motile cilia Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022982 peter 2013-04-07T10:12:06Z human_phenotype owl:Class HP:0033439 biolink:NamedThing Elevated circulating decenoylcarnitine concentration Increased concentration of decenoylcarnitine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated plasma decenoylcarnitine, C10:1|Elevated circulating O-decenoylcarnitine concentration 2021-01-09 18:40:52+00:00 peter owl:Class HP:0030042 biolink:NamedThing Incomplete ossification of pubis Failure to complete ossification (maturation and calcification) of the pubic bone. tmpxe7fu0cj_hp_relaxed.owl Incomplete maturation of the pubic bone UMLS:C0685678|SNOMEDCT_US:373940002 owl:Class GO:0002284 biolink:NamedThing myeloid dendritic cell differentiation involved in immune response The process in which an immature myeloid dendritic cell acquires the specialized features of a mature myeloid dendritic cell as part of an immune response. tmpxe7fu0cj_hp_relaxed.owl myeloid dendritic cell differentiation during immune response biological_process owl:Class HP:0030967 biolink:NamedThing Abnormal pulmonary artery physiology An abnormality of the function of the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl 2017-04-18 13:29:51+00:00 robinp owl:Class UBERON:0000358 biolink:NamedThing blastocyst The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]. tmpxe7fu0cj_hp_relaxed.owl blastocystis|blastula GAID:1153|EFO:0000295|BTO:0001099|MESH:A16.254.085|CALOHA:TS-0076|EMAPA:36035|EV:0100394|UMLS:C1281743|NCIT:C13739|FMA:83041 Blastocyst:English.svg Gilbert fig11.32 has blastocyst has giving rise to ICM and trophoblast (which in this source is a synonym for trophectoderm) uberon owl:Class HP:0031984 biolink:NamedThing Esophageal food impaction A piece of food that has gotten stuck in the esophagus and prevents further swallowing. tmpxe7fu0cj_hp_relaxed.owl 2018-07-08 14:55:36+00:00 Although any type of food can become stuck in the esophagus, in the adult population, structural diseases or abnormalities of the esophagus, specifically eosinophilic esophagitis, are the main causes of food impactions. Eosinophilic esophagitis causes solid food to become stuck in the esophagus intermittently. peter owl:Class HP:0020159 biolink:NamedThing Reduced response to gonadotropin-releasing hormone stimulation test Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels. tmpxe7fu0cj_hp_relaxed.owl Reduce response to GnRH stimulation test robinp 2019-07-06 19:39:36+00:00 owl:Class HP:0010926 biolink:NamedThing Aculeiform cataract A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. tmpxe7fu0cj_hp_relaxed.owl Frosted cataract|Needle-shaped cataract|Fasciculiform cataract UMLS:C1861832|MSH:C566162 This phenotype is characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. Some crystals may be 11 mm in length, and their biochemical composition is not known. This type of cataract is considered to be different from the corraliform cataract, which does not show the needlelike projections. This opacity does not appear to respect the sutures or the direction of the lens fibers (Francois 1963) and appears to originate from the fetal and postnatal nuclei, suggesting a congenital origin with some postnatal progression, if any. peter 2010-12-19T03:47:35Z human_phenotype owl:Class HP:0033067 biolink:NamedThing Cystine crystalluria tmpxe7fu0cj_hp_relaxed.owl Cystine crystals precipitate as symmetrical hexagons, mostly aggregated, and are constantly birefringent. They are typical of patients with cystinuria, but to find them the urine pH must be lowered to 4.0 with glacial acetic acid and stored overnight at 4 degrees C. peter owl:Class PATO:0001654 biolink:NamedThing misaligned with An alignment quality inhering in a bearer by virtue of the bearer's being in a improper spatial positioning with respect to an additional entity. tmpxe7fu0cj_hp_relaxed.owl unaligned with|misaligned quality owl:Class HP:0033313 biolink:NamedThing Urinary space collagenization Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. tmpxe7fu0cj_hp_relaxed.owl Collagenization of the urinary space 2020-11-29 13:10:01+00:00 peter owl:Class HP:0006387 biolink:NamedThing Wide distal femoral metaphysis Increased width of the distal part of the shaft (metaphysis) of the femur. tmpxe7fu0cj_hp_relaxed.owl Wide distal metaphysis of femur|Broad outermost wide portion of thighbone UMLS:C1849309 human_phenotype owl:Class GO:1905064 biolink:NamedThing negative regulation of vascular associated smooth muscle cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl down regulation of vascular associated smooth muscle cell differentiation|negative regulation of VSMC differentiation|inhibition of vascular smooth muscle cell differentiation|inhibition of VSMC differentiation|down regulation of VSMC differentiation|inhibition of vascular associated smooth muscle cell differentiation|down-regulation of vascular smooth muscle cell differentiation|down-regulation of VSMC differentiation|down regulation of vascular smooth muscle cell differentiation|negative regulation of vascular smooth muscle cell differentiation|down-regulation of vascular associated smooth muscle cell differentiation|downregulation of vascular smooth muscle cell differentiation|downregulation of vascular associated smooth muscle cell differentiation|downregulation of VSMC differentiation rph 2016-03-21T11:15:03Z biological_process owl:Class HP:0000221 biolink:NamedThing Furrowed tongue Accentuation of the grooves on the dorsal surface of the tongue. tmpxe7fu0cj_hp_relaxed.owl Grooved tongue|Lingual furrow|Fissured tongue|Plicated tongue|Scrotal tongue|Lingue plicata|Prominent tongue grooves UMLS:C0040412|MSH:D014063|SNOMEDCT_US:52368004 Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children. human_phenotype owl:Class HP:0011438 biolink:NamedThing Maternal teratogenic exposure A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023357 Commonly encountered maternal teratogens include alcohol, antiepileptic drugs, antihypertensive and antithyroid medications, aspirin, bisphosphonates, chemotherapy, monoclonal antibodies, ionizing radiation, recreational drugs, and serotonin-specific reuptake inhibitors (a class of antidepressants). peter 2012-03-17T07:59:06Z human_phenotype owl:Class HP:0031437 biolink:NamedThing Pregnancy exposure Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants. tmpxe7fu0cj_hp_relaxed.owl Exposure during pregnancy 2017-09-16 13:01:58+00:00 peter owl:Class GO:0061973 biolink:NamedThing membrane bone morphogenesis The process in which bone which forms deep in the organism are generated and organized. tmpxe7fu0cj_hp_relaxed.owl dph 2018-02-12T18:21:09Z biological_process owl:Class PR:P17931 biolink:NamedThing galectin-3 (human) A galectin-3 that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl MAC2|galactose-specific lectin 3 (human)|galactoside-binding protein (human)|carbohydrate-binding protein 35 (human)|LGALS3|laminin-binding protein (human)|Mac-2 antigen (human)|CBP 35 (human)|L-31 (human)|hLGALS3|lectin L-29 (human)|gal-3 (human)|IgE-binding protein (human)|35 kDa lectin (human)|GALBP (human) UniProtKB:P17931 Category=organism-gene. protein owl:Class CHEBI:38180 biolink:NamedThing polycyclic heteroarene tmpxe7fu0cj_hp_relaxed.owl polycyclic heteroarenes chebi_ontology owl:Class HP:0008467 biolink:NamedThing Thoracic hemivertebrae Absence of one half of the vertebral body in the thoracic spine. tmpxe7fu0cj_hp_relaxed.owl Midthoracic hemivertebrae UMLS:C4020799|SNOMEDCT_US:95304000|UMLS:C0432152 HP:0004604 human_phenotype owl:Class GO:0006553 biolink:NamedThing lysine metabolic process The chemical reactions and pathways involving lysine, 2,6-diaminohexanoic acid. tmpxe7fu0cj_hp_relaxed.owl lysine metabolism Wikipedia:Lysine biological_process owl:Class HP:0003258 biolink:NamedThing Glyoxalase deficiency tmpxe7fu0cj_hp_relaxed.owl UMLS:C3279658 human_phenotype owl:Class HP:0025131 biolink:NamedThing Finger swelling Enlargement of the soft tissues of one or more fingers. tmpxe7fu0cj_hp_relaxed.owl Swelling of fingers|Swollen fingers|Swollen finger 2016-11-15 12:08:31+00:00 HPO:probinson owl:Class HP:0007455 biolink:NamedThing Adermatoglyphia tmpxe7fu0cj_hp_relaxed.owl MSH:C565010|UMLS:C1852150 human_phenotype owl:Class HP:0009577 biolink:NamedThing Short middle phalanx of the 2nd finger Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic middle index finger phalanx|Hypoplastic/small middle phalanx of the 2nd finger|Brachymesophalangy II (finger)|Short middle bone of index finger UMLS:C4021435 doelkens 2009-01-28T05:15:55Z HP:0004133 owl:Class HP:0410284 biolink:NamedThing Positive norpropoxyphene blood test Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene. tmpxe7fu0cj_hp_relaxed.owl 2018-12-04 02:17:31+00:00 owl:Class UBERON:0010746 biolink:NamedThing iliac blade The extension of the ilium above the level of the acetabulum. Attachment site for both hindlimb and caudal musculature. Medially is the site of attachment of the sacral ribs, where these exist[PHENOSCAPE:ad]. tmpxe7fu0cj_hp_relaxed.owl wing of the ilium|a. ossis ilii|ilium ala|ala ossis ilii|ala of ilium|wing of ilium FMA:42826 http://upload.wikimedia.org/wikipedia/commons/a/a1/Gray235.png uberon owl:Class Often dorsally expanded in amniotes HP:0011946 biolink:NamedThing Bronchiolitis obliterans Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways. tmpxe7fu0cj_hp_relaxed.owl Obliterative bronchiolitis|Constrictive bronchiolitis UMLS:C2350875|UMLS:C0006272|SNOMEDCT_US:40100001|MSH:D001989 Note that Bronchiolitis obliterans is not to be confused with the similarly named feature Bronchiolitis obliterans organizing pneumonia. peter 2012-06-21T08:20:58Z human_phenotype owl:Class HP:0011931 biolink:NamedThing Abnormal cerebellar peduncle morphology An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the cerebellar peduncle UMLS:C4023121 peter 2012-06-10T01:02:57Z owl:Class HP:0031052 biolink:NamedThing Elevated vascular endothelial growth factor level Increased blood concentration of vascular endothelial growth factor (VEGF). tmpxe7fu0cj_hp_relaxed.owl 2017-05-27 15:09:56+00:00 peter owl:Class HP:0009113 biolink:NamedThing Diaphragmatic weakness A decrease in the strength of the diaphragm. tmpxe7fu0cj_hp_relaxed.owl Diaphragmatic paraparesis|Weak diaphragm|Diminished diaphragmatic motion UMLS:C4020786|UMLS:C0521532|SNOMEDCT_US:95438009 Diaphragmatic paralysis is an extreme form of diaphragmatic weakness. Weakness of the diaphragm can result from abnormalities at any site along its neuromuscular axis, although it most frequently arises from diseases in the phrenic nerves or from myopathies affecting the diaphragm itself. Presence of diaphragmatic weakness may be suspected from the complaint of dyspnea (particularly on exertion) or orthopnea; or the presence of rapid, shallow breathing or, more importantly, paradoxical inward motion of the abdomen during inspiration on physical examination. peter 2008-04-05T10:43:00Z HP:0009111|HP:0005953 human_phenotype owl:Class HP:0003091 biolink:NamedThing Trophic limb changes Trophic changes occurring in a limb. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025657 human_phenotype owl:Class HP:0006379 biolink:NamedThing Proximal tibial hypoplasia tmpxe7fu0cj_hp_relaxed.owl Proximal tibial hypopolasia UMLS:C1856029 Removed logical definition that used anonymous class. Requested new term from UBERON: 'proximal tibia' human_phenotype owl:Class UBERON:0008775 biolink:NamedThing proximal epiphysis of fibula A proximal epiphysis that is part of a fibula. tmpxe7fu0cj_hp_relaxed.owl fibular head|upper end of fibula|proximal end of fibula|caput fibulae|head of fibula galen:HeadOfFibula|EMAPA:37890|FMA:33729|UMLS:C0223908|NCIT:C32719 uberon owl:Class The upper extremity or head of the fibula is of an irregular quadrate form, presenting above a flattened articular surface, directed upward, forward, and medialward, for articulation with a corresponding surface on the lateral condyle of the tibia. On the lateral side is a thick and rough prominence continued behind into a pointed eminence, the apex, which projects upward from the posterior part of the head. The prominence, at its upper and lateral part, gives attachment to the tendon of the Biceps femoris and to the fibular collateral ligament of the knee-joint, the ligament dividing the tendon into two parts. The remaining part of the circumference of the head is rough, for the attachment of muscles and ligaments. It presents in front a tubercle for the origin of the upper and anterior fibers of the Peronæus longus, and a surface for the attachment of the anterior ligament of the head; and behind, another tubercle, for the attachment of the posterior ligament of the head and the origin of the upper fibers of the Soleus[Wikipedia:Head_of_fibula]. CHEBI:33767 biolink:NamedThing cobalt group molecular entity tmpxe7fu0cj_hp_relaxed.owl cobalt group molecular entities|cobalt group molecular entity chebi_ontology owl:Class HP:0040170 biolink:NamedThing Abnormality of hair growth tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073136 owl:Class HP:0007098 biolink:NamedThing Paroxysmal choreoathetosis Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements. tmpxe7fu0cj_hp_relaxed.owl Choreoathetosis, episodic|Choreoathetosis, intermittent SNOMEDCT_US:49949003|UMLS:C1851936 HP:0002351 human_phenotype owl:Class HP:0001776 biolink:NamedThing Bilateral talipes equinovarus Bilateral clubfoot deformity (see HP:0001762). tmpxe7fu0cj_hp_relaxed.owl Bilateral clubfoot|Bilateral clubfeet|Club foot on both sides UMLS:C1837835 human_phenotype owl:Class HP:0032333 biolink:NamedThing Polyclonal elevation of circulating IgA A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis. tmpxe7fu0cj_hp_relaxed.owl 2019-02-18 14:10:14+00:00 peter owl:Class HP:0009274 biolink:NamedThing Joint contracture of the 4th finger Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected. tmpxe7fu0cj_hp_relaxed.owl Joint contractures of the fourth finger UMLS:C4021504 doelkens 2009-01-07T04:04:54Z HP:0004189 human_phenotype owl:Class GO:1903133 biolink:NamedThing negative regulation of tube lumen cavitation Any process that stops, prevents or reduces the frequency, rate or extent of tube lumen cavitation. tmpxe7fu0cj_hp_relaxed.owl inhibition of tube lumen cavitation dph 2014-06-25T20:19:04Z biological_process owl:Class HP:0007504 biolink:NamedThing Diffuse slow skin atrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024860 human_phenotype owl:Class HP:0007488 biolink:NamedThing Diffuse skin atrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024863 human_phenotype owl:Class HP:0025083 biolink:NamedThing Elevated dermal desmosine content An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin. tmpxe7fu0cj_hp_relaxed.owl 2016-10-15 13:13:02+00:00 Disorders of elastosis may show an increased content of desmosines, whereas elastolytic disorders may show a reduced content of desmosine. HPO:probinson owl:Class GO:0009251 biolink:NamedThing glucan catabolic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:4000005 biolink:NamedThing Pericardial late gadolinium enhancement Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium. tmpxe7fu0cj_hp_relaxed.owl 2021-04-24 14:54:03+00:00 Late gadolinium enhancement in the pericardium may be observed with pericardial inflammation. robinp owl:Class UBERON:0003844 biolink:NamedThing upper eyelid epithelium An epithelium that is part of an upper eyelid [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelium of upper eyelid|upper eyelid epithelial tissue|epithelial tissue of superior eyelid|superior eyelid epithelium|superior eyelid epithelial tissue|epithelial tissue of upper eyelid|epithelium of superior eyelid VHOG:0000638|EMAPA:17835|EHDAA2:0002116 uberon owl:Class UBERON:0013768 biolink:NamedThing great vessel of heart Great vessels is a term used to refer collectively to the large vessels that bring blood to and from the heart. tmpxe7fu0cj_hp_relaxed.owl great vessel|great vessel of thorax EMAPA:36460|Wikipedia:Great_vessels|SCTID:304066000 Groupings may vary - typically pulmonary vessels and aorta and vena cavae uberon owl:Class HP:0004552 biolink:NamedThing Scarring alopecia of scalp tmpxe7fu0cj_hp_relaxed.owl Hair loss on scalp from scarring condition|Cicatricial alopecia UMLS:C3806301 owl:Class HP:0033355 biolink:NamedThing Increased urine deoxypyridinoline level An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover. tmpxe7fu0cj_hp_relaxed.owl Elevated urinary DPD 2020-12-01 12:09:27+00:00 peter owl:Class HP:0033384 biolink:NamedThing Elevated urinary collagen degradation products Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease. tmpxe7fu0cj_hp_relaxed.owl 2021-01-02 13:26:26+00:00 Bone undergoes continuous remodeling because of the activity of osteoblasts (bone formation) and osteoclasts (bone resorption). Collagen degradation products may be considered as biochemical markers of bone resorption. peter owl:Class UBERON:0005645 biolink:NamedThing manual digit 2 epithelium An epithelium that is part of a manual digit 2. tmpxe7fu0cj_hp_relaxed.owl fore limb digit 2 epithelium|hand digit 2 epithelium|manual digit II epithelium EHDAA2:0000518|EMAPA:17433 uberon owl:Class HP:0020146 biolink:NamedThing Calcium carbonate crystalluria The presence of calcium carbonate crystals in the urine. tmpxe7fu0cj_hp_relaxed.owl Calcium carbonate crystals usually appear as clumped granules. robinp 2019-07-05 19:11:59+00:00 owl:Class HP:0006234 biolink:NamedThing Osteolysis involving tarsal bones An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones. tmpxe7fu0cj_hp_relaxed.owl Tarsal osteolysis|Tarsal bone osteolysis UMLS:C1833735 peter 2008-04-17T02:39:00Z HP:0001858 human_phenotype owl:Class HP:0025062 biolink:NamedThing Geophagia The practice of eating earth or soil-like substrates such as clay or chalk. tmpxe7fu0cj_hp_relaxed.owl Geophagy 2016-09-26 09:47:56+00:00 HPO:probinson owl:Class HP:0011856 biolink:NamedThing Pica An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:14077003|MSH:D010842|UMLS:C0031873 hecht 2012-05-21T11:08:54Z human_phenotype owl:Class HP:0004990 biolink:NamedThing Epiphyseal streaking tmpxe7fu0cj_hp_relaxed.owl UMLS:C1858039 human_phenotype owl:Class HP:0032407 biolink:NamedThing Bilateral perisylvian polymicrogyria A type of perisylvian polymicrogyria that affects both sides of the brain. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 20:47:02+00:00 peter owl:Class HP:0010500 biolink:NamedThing Hyperextensibility of the knee The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023802 peter 2009-09-19T09:44:04Z human_phenotype owl:Class CHEBI:24868 biolink:NamedThing organic salt tmpxe7fu0cj_hp_relaxed.owl organic salts|organisches Salz chebi_ontology owl:Class HP:0033209 biolink:NamedThing Acinar dysplasia Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli. tmpxe7fu0cj_hp_relaxed.owl 2020-10-12 11:21:18+00:00 peter owl:Class HP:0010641 biolink:NamedThing Abnormality of the midnasal cavity Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021861 doelkens 2009-12-17T04:58:21Z human_phenotype owl:Class HP:0004451 biolink:NamedThing Postauricular skin tag A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). tmpxe7fu0cj_hp_relaxed.owl Postauricular fibroepithelial polyp|Skin tag behind the ear|Postauricular acrochordon UMLS:C4025323 human_phenotype owl:Class PATO:0001163 biolink:NamedThing decreased concentration A concentration which is lower relative to the normal or average. tmpxe7fu0cj_hp_relaxed.owl low concentration quality owl:Class HP:0025034 biolink:NamedThing Abnormal morphology of erythroid progenitor cell Abnormal form of the progenitor cells committed to the erythroid lineage. tmpxe7fu0cj_hp_relaxed.owl 2016-09-02 11:14:05+00:00 HPO:probinson owl:Class HP:0033407 biolink:NamedThing Elevated urine acetoacetic acid level Elevated amount of acetoacetic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 15:59:52+00:00 peter owl:Class HP:0002919 biolink:NamedThing Ketonuria High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. tmpxe7fu0cj_hp_relaxed.owl Ketone bodies in urine|Acetonuria|Ketonaciduria|Ketoaciduria MSH:D007662|SNOMEDCT_US:36815008|SNOMEDCT_US:274783007|UMLS:C0162275 Acetone is the main component of the ketone bodies. owl:Class HP:0100622 biolink:NamedThing Maternal seizure A seizure during pregnancy. tmpxe7fu0cj_hp_relaxed.owl Maternal seizures UMLS:C4022010 doelkens 2010-12-28T12:03:21Z owl:Class HP:0011952 biolink:NamedThing Acute aspiration pneumonia An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023111|SNOMEDCT_US:35031000119100 peter 2012-06-21T08:42:03Z human_phenotype owl:Class HP:0011951 biolink:NamedThing Aspiration pneumonia Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:422588002|MSH:D011015|UMLS:C0032290 peter 2012-06-21T08:40:03Z human_phenotype owl:Class HP:0200101 biolink:NamedThing Decreased/absent ankle reflexes tmpxe7fu0cj_hp_relaxed.owl Decreased or absent ankle reflexes|Decreased/absent ankle reflexes UMLS:C1850816 sebastiankohler 2013-06-05T11:58:29Z human_phenotype owl:Class GO:0051353 biolink:NamedThing positive regulation of oxidoreductase activity Any process that activates or increases the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. tmpxe7fu0cj_hp_relaxed.owl up-regulation of oxidoreductase activity|oxidoreductase activator|ribonucleotide reductase activating enzyme activity|activation of oxidoreductase activity|up regulation of oxidoreductase activity|upregulation of oxidoreductase activity|stimulation of oxidoreductase activity GO:0009391 biological_process owl:Class HP:0031819 biolink:NamedThing Increased waist to hip ratio Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. tmpxe7fu0cj_hp_relaxed.owl Increased waist-hip ratio|Increased waist-to-hip ratio|Increased WHR 2018-05-01 02:08:12+00:00 peter owl:Class HP:0025162 biolink:NamedThing Severe temper tantrums Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes. tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 13:05:46+00:00 HPO:probinson owl:Class HP:0025160 biolink:NamedThing Abnormal temper tantrums A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual. tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 12:59:10+00:00 HPO:probinson owl:Class HP:0009116 biolink:NamedThing Aplasia/Hypoplasia involving bones of the skull tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024591 peter 2008-04-05T10:53:00Z human_phenotype owl:Class UBERON:0002336 biolink:NamedThing corpus callosum White matter structure containing massive numbers of commissural fibers connecting cortical areas in the two cerebral hemispheres.it is subdivided into a genu, a rostrum, a body, and a splenium. (MM). tmpxe7fu0cj_hp_relaxed.owl HBA:9222|EFO:0001390|MIAA:0000286|MA:0000188|FMA:86464|OpenCyc:Mx4rvbNzdZwpEbGdrcN5Y29ycA|MAT:0000286|EV:0100305|DHBA:10561|BM:Tel-CC|EMAPA:35253|MESH:A08.186.211.730.885.362|CALOHA:TS-0180|UMLS:C0010090|BIRNLEX:1087|BTO:0000615|VHOG:0001608|BAMS:CC|GAID:683|MBA:776|BAMS:cc|NCIT:C12446 http://upload.wikimedia.org/wikipedia/commons/a/aa/Gray733.png uberon owl:Class The largest commissure of the brain connecting the cerebral hemispheres. [TFD][VHOG] In addition to the anterior commissure, placental mammals have a phylogenetically new forebrain commissure, the corpus callosum, which primarily interconnects the neocortex of the cerebral hemispheres.[well established][VHOG] The corpus callosum is found only in placental mammals. other groups do have other brain structures that allow for communication between the two hemispheres, such as the anterior commissure, which serves as the primary mode of interhemispheric communication in marsupials. UBERON:0002473 biolink:NamedThing intercerebral commissure A commissure that connects the two cerebral hemispheres. Examples: anterior commissure, corpus callosum. tmpxe7fu0cj_hp_relaxed.owl commissure of cerebrum|inter-hemispheric commissure|interhemispheric commissure EMAPA:35435|MA:0002721|FMA:67930 uberon owl:Class HP:0030973 biolink:NamedThing Postexertional malaise A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise. tmpxe7fu0cj_hp_relaxed.owl Postexertional fatigue|Exercise-induced fatigue|Exercise-induced malaise 2017-04-18 14:35:09+00:00 The manifestations of postexertional malaise can include dead, heavy feeling after starting to exercise, next-day soreness or fatigue after non-strenuous, everday activities, being mentally tired after slight effort, and feeling physically drained or sick after mild activity. robinp owl:Class HP:0031048 biolink:NamedThing Light-chain paraproteinemia An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. tmpxe7fu0cj_hp_relaxed.owl 2017-05-27 14:28:36+00:00 peter owl:Class HP:0008306 biolink:NamedThing Abnormal iron deposition in mitochondria tmpxe7fu0cj_hp_relaxed.owl UMLS:C3151556 human_phenotype owl:Class HP:0004283 biolink:NamedThing Narrow palm For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length. tmpxe7fu0cj_hp_relaxed.owl Narrow hands|Narrow hand|Narrow palm UMLS:C1857632 Palm width is measured across the palm at the level of the MCPJ (radial aspect of the F2 MCPJ to the ulnar aspect of the F5 MCPJ). Norms are specified in [Hall et al., 2007]. Caution is advised for the subjective assessment as the breadth may be in the normal range with disproportionately increased length, which appears narrow. This finding may be associated with elongated/slender limbs in general, but that finding does not bear on the coding of this feature. Proximal narrowing may indicate small thenar or hypothenar eminences. This term replaces "narrow hands" as that term may leave the impression that it includes the thumb, which it does not. human_phenotype owl:Class HP:0006187 biolink:NamedThing Fusion of midphalangeal joints tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861332 human_phenotype owl:Class HP:0007800 biolink:NamedThing Increased axial length of the globe Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. tmpxe7fu0cj_hp_relaxed.owl Increased axial globe length|Globe elongated|Increased front to back length of eyeball UMLS:C1835117 human_phenotype owl:Class HP:0031973 biolink:NamedThing Increased vertical cup-to-disc ratio An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc. tmpxe7fu0cj_hp_relaxed.owl 2018-07-08 00:08:21+00:00 Primary open angle glaucoma is causing a progressive optic neuropathy and its development is associated with loss of tissue in the neuroretinal rim of the optic disc and that will lead to increase in the size of the optic cup. Clinical estimation of the size of the cup using either the slit lamb or a simple imaging modalities such as fundus images is a significant clinical parameter and remains the simplest and most frequently performed assessment of the optic disc in the diagnosis and follows up the progression of the glaucoma suspect. The estimation of the size of the cup is usually made by comparison with the size of the disc and given as the ratio of the vertical and horizontal diameter of the cup to the vertical and horizontal diameter. peter owl:Class HP:0012796 biolink:NamedThing Increased cup-to-disc ratio An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. tmpxe7fu0cj_hp_relaxed.owl Elevated cup to disc ratio|Increased cup disc ratio UMLS:C3805911 A cup to disc ratio of 0.3 is generally considered normal. Note that the ratio is measured in the vertical orientation unless otherwise specified. peter 2014-05-24T04:43:52Z human_phenotype owl:Class HP:0001112 biolink:NamedThing Leber optic atrophy Degeneration of retinal ganglion cells and their axons. tmpxe7fu0cj_hp_relaxed.owl Leber optic degeneration|Leber optic atrophy features SNOMEDCT_US:58610003|MSH:D029242|UMLS:C0917796 HP:0001086 human_phenotype owl:Class HP:0006740 biolink:NamedThing Transitional cell carcinoma of the bladder The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell. tmpxe7fu0cj_hp_relaxed.owl Transitional cell bladder carcinoma SNOMEDCT_US:255109008|NCIT:C2930|UMLS:C0279680 human_phenotype owl:Class HP:0002862 biolink:NamedThing Bladder carcinoma The presence of a carcinoma of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:255108000|NCIT:C2916|UMLS:C0699885 human_phenotype owl:Class HP:0033905 biolink:NamedThing Arcuate artery intima/media arteriosclerosis Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina. tmpxe7fu0cj_hp_relaxed.owl Arteriosclerosis within arcuate arterial intima/media 2021-06-23 22:47:08+00:00 peter owl:Class HP:0500262 biolink:NamedThing Atrichia The most dramatic and severe form of hair loss characterized by an absence of hair follicles. tmpxe7fu0cj_hp_relaxed.owl 2019-08-21 15:12:23+00:00 owl:Class HP:0033390 biolink:NamedThing Bronchial artery dilatation Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm. tmpxe7fu0cj_hp_relaxed.owl Bronchial artery enlargement|Dilatation of a bronchial artery 2021-01-06 12:25:32+00:00 peter owl:Class UBERON:0002268 biolink:NamedThing olfactory organ An organ that houses olfactory neurons and is responsible for the sense of smell. Examples include the vertebrate nose and the Drosophila dorsal organ. tmpxe7fu0cj_hp_relaxed.owl olfactory sensory organ|organum olfactorium|organ olfactus|primary olfactory organ|main olfactory organ|olfactory neuroepithelium|olfactory organ|olfactory sense organ FMA:77659|XAO:0000273|FBbt:00005158|AAO:0010180|VHOG:0000287|BTO:0001772 An olfactory organ overlaps with the olfactory system, because some parts of the nose (e.g. nasal skeleton) are parts of the skeletal system, which is spatially disjoint uberon owl:Class fma general anatomical term. xao has no subtypes (but Johnstons organ develops from this). An olfactory organ overlaps with the olfactory system, because some parts of the nose (e.g. nasal skeleton) are parts of the skeletal system, which is spatially disjoint HP:0001908 biolink:NamedThing Hypoplastic anemia Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic anaemia SNOMEDCT_US:41614006|MSH:D000741|SNOMEDCT_US:167923006|UMLS:C0178416 human_phenotype owl:Class UBERON:0015087 biolink:NamedThing distal carpal bone 2 endochondral element tmpxe7fu0cj_hp_relaxed.owl distal carpal 2 uberon owl:Class HP:0030621 biolink:NamedThing Foveal inner retinal layer loss on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073091 owl:Class HP:0033654 biolink:NamedThing Beaded septum sign Irregular and nodular thickening of interlobular septa reminiscent of a row of beads. tmpxe7fu0cj_hp_relaxed.owl 2021-02-24 13:44:52+00:00 The beaded septum sign is frequently seen in lymphangitic spread of cancer and less often in sarcoidosis. See Figure 10 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0004684 biolink:NamedThing Talipes valgus Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0152236|SNOMEDCT_US:79807003 The phrase talipes valgus is derived from the Latin words talus (ankle), pes (poot), and valgus (outward angulation of the distal segment of a bone). human_phenotype owl:Class HP:0012682 biolink:NamedThing Pineal gland calcification Accumulation of calcium salts in the pineal gland. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1398718 This feature can be appreciated on skull radiography. peter 2014-03-22T12:51:57Z human_phenotype owl:Class HP:0025312 biolink:NamedThing Esophoria A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters. tmpxe7fu0cj_hp_relaxed.owl 2016-12-21 01:43:27+00:00 HPO:probinson owl:Class HP:0010436 biolink:NamedThing Aplasia of the proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Absent innermost 2nd toe bone UMLS:C4023827 doelkens 2009-07-16T04:29:25Z owl:Class GO:0016866 biolink:NamedThing intramolecular transferase activity Catalysis of the transfer of a functional group from one position to another within a single molecule. tmpxe7fu0cj_hp_relaxed.owl intramolecular transferase activity, transferring other groups|mutase activity EC:5.4.-.- molecular_function owl:Class HP:0500201 biolink:NamedThing Decreased CSF glutamate concentration Abnormally decreased levels of glutamic acid in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Low glutamic acid levels in cerebrospinal fluid 2019-02-25 16:57:30+00:00 owl:Class GO:1905607 biolink:NamedThing negative regulation of presynapse assembly Any process that stops, prevents or reduces the frequency, rate or extent of presynapse assembly. tmpxe7fu0cj_hp_relaxed.owl inhibition of presynaptic terminal assembly|downregulation of presynaptic terminal assembly|inhibition of presynapse assembly|inhibition of presynapse biogenesis|downregulation of presynapse assembly|downregulation of presynapse biogenesis|down regulation of presynaptic terminal assembly|down-regulation of presynapse assembly|down regulation of presynapse assembly|down-regulation of presynapse biogenesis|negative regulation of presynaptic terminal assembly|down-regulation of presynaptic terminal assembly|down regulation of presynapse biogenesis|negative regulation of presynapse biogenesis bc 2016-10-27T16:08:20Z biological_process owl:Class HP:0025458 biolink:NamedThing Decreased CSF albumin concentration CSF albumin level is below the lower limit of normal. tmpxe7fu0cj_hp_relaxed.owl Low CSF albumin 2017-05-05 10:46:15+00:00 HPO:probinson owl:Class HP:0500238 biolink:NamedThing Abnormal CSF albumin concentration Any deviation from the normal concentration of albumin in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal albumin levels in cerebrospinal fluid 2019-02-26 15:00:29+00:00 owl:Class GO:0006544 biolink:NamedThing glycine metabolic process The chemical reactions and pathways involving glycine, aminoethanoic acid. tmpxe7fu0cj_hp_relaxed.owl glycine metabolism biological_process owl:Class GO:0009069 biolink:NamedThing serine family amino acid metabolic process The chemical reactions and pathways involving amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine. tmpxe7fu0cj_hp_relaxed.owl serine family amino acid metabolism biological_process owl:Class HP:0011539 biolink:NamedThing Atrial situs ambiguous Common atrium without defining morphologic features. tmpxe7fu0cj_hp_relaxed.owl Atrial situs ambiguus|Atrial heterotaxy SNOMEDCT_US:448681000|UMLS:C3164429 peter 2012-04-07T10:43:42Z human_phenotype owl:Class GO:1905321 biolink:NamedThing negative regulation of mesenchymal stem cell migration Any process that stops, prevents or reduces the frequency, rate or extent of mesenchymal stem cell migration. tmpxe7fu0cj_hp_relaxed.owl down-regulation of mesenchymal stem cell migration|inhibition of mesenchymal stem cell migration|down regulation of mesenchymal stem cell migration|downregulation of mesenchymal stem cell migration sl 2016-07-15T22:19:22Z biological_process owl:Class HP:0030895 biolink:NamedThing Abnormal gastrointestinal motility An anomaly of the muscular contractions that propel food though the gastrointestinal tract. tmpxe7fu0cj_hp_relaxed.owl Abnormal GI motility owl:Class HP:0007875 biolink:NamedThing Congenital blindness Blindness with onset at birth. tmpxe7fu0cj_hp_relaxed.owl Blindness present at birth|Congenital amaurosis SNOMEDCT_US:95486002|UMLS:C0005754 HP:0007706 owl:Class HP:0000618 biolink:NamedThing Blindness Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation. tmpxe7fu0cj_hp_relaxed.owl Total vision loss|Blindness|Legal blindness UMLS:C0271215|UMLS:C0456909|SNOMEDCT_US:65956007|Fyler:4866|MSH:D001766 Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. HP:0007839 owl:Class GO:0031270 biolink:NamedThing pseudopodium retraction The myosin-based contraction and retraction of a pseudopodium. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0026246 biolink:NamedThing sacral spinal cord white matter tmpxe7fu0cj_hp_relaxed.owl sacral spinal cord white matter BIRNLEX:1500 uberon owl:Class HP:0034113 biolink:NamedThing Anti-type I liver-kidney microsomal antibody positivity The presence of type I liver-kidney microsomal autoantibodies (immunoglobulins) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Anti-LKM1 antibody positivity|Anti-liver kidney microsomal type 1 antibody positivity 2021-12-19 15:18:27+00:00 peter owl:Class GO:0086068 biolink:NamedThing Purkinje myocyte to ventricular cardiac muscle cell communication The process that mediates interactions between a Purkinje myocyte and its surroundings that contributes to the process of the Purkinje myocyte communicating with a ventricular cardiac muscle cell in cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpxe7fu0cj_hp_relaxed.owl dph 2011-11-22T09:14:49Z biological_process owl:Class HP:0033090 biolink:NamedThing Increased aromatic amino acid level in urine An elevated level of an aromatic amino acid in the urine. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0012194 biolink:NamedThing Episodic hemiplegia Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1863061 peter 2013-02-27T07:26:26Z human_phenotype owl:Class PATO:0000297 biolink:NamedThing arrested A quality of a process which ends earlier than the natural end time or reference process. tmpxe7fu0cj_hp_relaxed.owl abolished|incomplete TODO: the definition is incorrect. See absent. PATO:0001508 quality owl:Class HP:0033465 biolink:NamedThing Elevated circulating tetradecanolycarnitine concentration Elevated circulating tetradecanoyl concentration. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:34:59+00:00 peter owl:Class HP:0100259 biolink:NamedThing Postaxial polydactyly A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. tmpxe7fu0cj_hp_relaxed.owl Polydactyly, postaxial|Postaxial hexadactyly MSH:C562429|UMLS:C0220697 doelkens 2010-07-20T11:00:32Z HP:0005808 human_phenotype owl:Class HP:0410166 biolink:NamedThing Defective interstrand cross-link repair A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. tmpxe7fu0cj_hp_relaxed.owl 2018-05-01 17:32:00+00:00 owl:Class UBERON:0006062 biolink:NamedThing zygapophysis Paired processes at the cephalic and caudal ends of the neural arch. They function as interlocking structures between adjacent vertebrae, and limit dorsoventral flexion and lateral movement of the column in the trunk region[AAO]. The articular processes or zygapophyses of a vertebra, in human anatomy contain two superior and two inferior, spring from the junctions of the pedicles and laminae. These stick out of an end of a vertebra to lock with a zygapophysis on the next vertebra, to make the backbone more stable. The superior processes project upward from a lower vertebra, and their articular surfaces are directed more or less backward. The inferior processes project downward from a higher vertebra, and their articular surfaces are directed more or less forward and outward. The articular surfaces are coated with hyaline cartilage. tmpxe7fu0cj_hp_relaxed.owl articular process of vertebra|processus articularis vertebrae|processus articularis (zygapophysis)|articular process|p. articularis vertebrae|intercalarium articulating process|zygapophysis FMA:11952|ZFA:0001603|AAO:0000710|TAO:0001549 http://upload.wikimedia.org/wikipedia/commons/3/3e/Processusarticularissuperiorvertebrae.png TODO - class as endochondral bone, check species uberon owl:Class Paired processes at the cephalic and caudal ends of the neural arch. They function as interlocking structures between adjacent vertebrae, and limit dorsoventral flexion and lateral movement of the column in the trunk region.[AAO] UBERON:0003953 biolink:NamedThing posterior stroma of cornea The posterior segment of the lamellated connective tissue layer of the cornea. tmpxe7fu0cj_hp_relaxed.owl cornea posterior stroma|posterior stroma EMAPA:37415 uberon owl:Class HP:0032994 biolink:NamedThing Supernumerary pulmonary fissure Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes. tmpxe7fu0cj_hp_relaxed.owl increased pulmonary fissure count peter owl:Class HP:0011042 biolink:NamedThing Abnormal blood potassium concentration An abnormal concentration of potassium. tmpxe7fu0cj_hp_relaxed.owl Abnormality of potassium homeostasis|Abnormal blood K concentration UMLS:C4023575 peter 2011-03-09T11:00:32Z human_phenotype owl:Class HP:0005307 biolink:NamedThing Postural hypotension with compensatory tachycardia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850438 human_phenotype owl:Class HP:0006725 biolink:NamedThing Pancreatic adenocarcinoma The presence of an adenocarcinoma of the pancreas. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:700423003|UMLS:C0281361|NCIT:C2852 human_phenotype owl:Class MAXO:0010364 biolink:NamedThing myelography procedure The radiographic examination of the spinal cord and nerve roots following the injection of a contrast medium into the spinal subarachnoid space. The X-rays taken may highlight conditions such as spinal tumors, spinal cord swelling and herniated discs. tmpxe7fu0cj_hp_relaxed.owl radiograph of spinal cord|spinal cord radiogram procedure|myelography|spinal cord X-ray procedure|radiography of spinal cord 2020-04-27T20:39:14Z NCIT:C20175 http://orcid.org/0000-0001-7941-29610 owl:Class HP:0001125 biolink:NamedThing Transient unilateral blurring of vision Transient blurring of vision associated with the aura phase of migraine. tmpxe7fu0cj_hp_relaxed.owl Hemianopic blurring|Transient unilateral blurred vision|Hemianoptic blurring of vision UMLS:C1865332 The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. HP:0000583 human_phenotype owl:Class HP:0000622 biolink:NamedThing Blurred vision Lack of sharpness of vision resulting in the inability to see fine detail. tmpxe7fu0cj_hp_relaxed.owl Blurred vision SNOMEDCT_US:111516008|UMLS:C0344232|SNOMEDCT_US:246636008 This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible. HP:0007723 human_phenotype owl:Class GO:0071168 biolink:NamedThing protein localization to chromatin Any process in which a protein is transported to, or maintained at, a part of a chromosome that is organized into chromatin. tmpxe7fu0cj_hp_relaxed.owl protein localisation to chromatin mah 2009-11-20T11:51:20Z biological_process owl:Class UBERON:0013149 biolink:NamedThing hindbrain vesicle tmpxe7fu0cj_hp_relaxed.owl rhombencephalic vesicle EHDAA2:0000101|EMAPA:16917 gives rise of 4th ventricle uberon owl:Class HP:0025573 biolink:NamedThing Mild myopia A mild form of myopia with up to -3.00 diopters. tmpxe7fu0cj_hp_relaxed.owl 2017-12-14 14:38:05+00:00 HPO:probinson owl:Class HP:0001262 biolink:NamedThing Excessive daytime somnolence A state of abnormally strong desire for sleep during the daytime. tmpxe7fu0cj_hp_relaxed.owl Excessive daytime sleepiness|More than typical sleepiness during day UMLS:C2830004|SNOMEDCT_US:79519003|SNOMEDCT_US:271782001 HP:0002189 owl:Class HP:0033784 biolink:NamedThing Dentin dysplasia This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications. tmpxe7fu0cj_hp_relaxed.owl 2021-05-07 10:38:57+00:00 This term designates a genetic condition, and an Element of Morphology rending its utilization sometimes confusing. The condition is characterized by multiple dental anomalies that affect both deciduous and permanent dentitions. It can exist in isolation or be associated with other signs and symptoms of various syndromes. peter owl:Class CHEBI:75787 biolink:NamedThing prokaryotic metabolite Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea. tmpxe7fu0cj_hp_relaxed.owl prokaryotic metabolites chebi_ontology owl:Class HP:0032044 biolink:NamedThing Decreased vigilance A reduction in the ability to maintain sustained attention characterized by reduced alertness. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 10:41:34+00:00 peter owl:Class HP:0008074 biolink:NamedThing Metatarsal periosteal thickening tmpxe7fu0cj_hp_relaxed.owl UMLS:C1834349 human_phenotype owl:Class NBO:0000612 biolink:NamedThing communication behavior "A social behavior related to the activity of conveying information." [wikipedia:Communication] tmpxe7fu0cj_hp_relaxed.owl signal exchange|communicating 2011-04-14T04:39:42Z George Gkoutos behavior_ontology owl:Class GO:0048505 biolink:NamedThing regulation of timing of cell differentiation The process controlling the activation and/or rate at which relatively unspecialized cells acquire specialized features. Any process that modulates the rate, frequency or extent of the XXX at a consistent predetermined time point during its development. tmpxe7fu0cj_hp_relaxed.owl timing of cell differentiation biological_process owl:Class HP:0033549 biolink:NamedThing Nodular mesangiosclerosis Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. tmpxe7fu0cj_hp_relaxed.owl 2021-01-21 13:46:06+00:00 Nodular mesangiosclerosis is a pattern that can be observed together with mesangolysis but may also occur independently and so should be coded separately. peter owl:Class CL:0000622 biolink:NamedThing acinar cell A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus). tmpxe7fu0cj_hp_relaxed.owl acinic cell|acinous cell FMA:83625 cell owl:Class CL:0000154 biolink:NamedThing protein secreting cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0002172 biolink:NamedThing Postural instability A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. tmpxe7fu0cj_hp_relaxed.owl Imbalance|Balance impairment|Abnormal retropulsion test UMLS:C1843921 owl:Class HP:0005297 biolink:NamedThing Premature occlusive vascular stenosis Peripheral arterial stenosis with onset before the age of 50 years. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1867457 human_phenotype owl:Class HP:0002555 biolink:NamedThing Absent pubic hair Absence of pubic hair. tmpxe7fu0cj_hp_relaxed.owl Absent pubic hair UMLS:C1859391 HP:0004556|HP:0004537 human_phenotype owl:Class UBERON:0007744 biolink:NamedThing metacarpophalangeal joint of manual digit 4 A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 4. tmpxe7fu0cj_hp_relaxed.owl metacarpophalangeal joint of ring finger|metacarpo-phalangeal joint of digit 4 of fore-paw|carpometacarpophalangeal joint of fourth digit|metacarpophalangeal joint of fourth digit of hand|metacarpophalangeal joint of digit 4|metacarpophalangeal joint of fourth finger|metacarpophalangeal joint of manual digit IV EMAPA:25066|FMA:35258 uberon owl:Class HP:0045043 biolink:NamedThing Decreased serum complement C4a A reduced level of the complement component C4a in circulation. tmpxe7fu0cj_hp_relaxed.owl C4a deficiency|Complement component 4A deficiency UMLS:C4073170 HPO:skoehler owl:Class GO:0016788 biolink:NamedThing hydrolase activity, acting on ester bonds Catalysis of the hydrolysis of any ester bond. tmpxe7fu0cj_hp_relaxed.owl esterase activity Reactome:R-HSA-9023617|Reactome:R-HSA-9023619|Reactome:R-HSA-162729|EC:3.1.-.- molecular_function owl:Class HP:0033616 biolink:NamedThing Accessory cardiac bronchus Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 22:33:01+00:00 peter owl:Class CHEBI:59698 biolink:NamedThing phosphoric acids Compounds containing one or more phosphoric acid units. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0031249 biolink:NamedThing Parageusia A distortion of the sense of taste, often characterized by the sensation of a metallic taste. tmpxe7fu0cj_hp_relaxed.owl Dysgeusia|Metallic taste|Metallic taste in mouth|Altered sense of taste 2017-08-12 13:35:52+00:00 peter owl:Class HP:0000820 biolink:NamedThing Abnormality of the thyroid gland An abnormality of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Thyroid disease|Abnormality of the thyroid gland|Thyroid abnormality SNOMEDCT_US:14304000|UMLS:C0040128|MSH:D013959 owl:Class HP:0032560 biolink:NamedThing Coiled sperm flagella Sperm cells whose flagella are twisted (coiled). tmpxe7fu0cj_hp_relaxed.owl 2019-06-15 00:22:19+00:00 peter owl:Class HP:0012782 biolink:NamedThing Perilobar nephrogenic rest A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe. tmpxe7fu0cj_hp_relaxed.owl Perilobar nephrogenic rests UMLS:C1319017|SNOMEDCT_US:405935000 Perilobar nephrogenic rests are associated with Beckwith-Wiedemann syndrome (BWS) and hemi-hyperplasia. peter 2014-04-20T03:23:16Z human_phenotype owl:Class HP:0100880 biolink:NamedThing Nephrogenic rest Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1320468|SNOMEDCT_US:405933007 Though NR are best known as precursors of Wilms tumor (WT), many alternative fates are observed, and most rests are destined for eventual atresia. Nephroblastomatosis refers to the presence of multifocal or diffuse nephrogenic rests. doelkens 2011-12-01T02:41:34Z human_phenotype owl:Class HP:0033771 biolink:NamedThing Pleuritic chest pain Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling. tmpxe7fu0cj_hp_relaxed.owl 2021-05-01 15:26:18+00:00 peter owl:Class HP:0003970 biolink:NamedThing Undermodelled forearm bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025470 human_phenotype owl:Class HP:0003872 biolink:NamedThing Humeral exostoses Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025538 human_phenotype owl:Class HP:0040200 biolink:NamedThing Motor impersistence The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts. tmpxe7fu0cj_hp_relaxed.owl Negative chorea UMLS:C4073148 Damage to premotor and prefrontal regions results in motor-intentional disorders that disrupt initiation, maintenance, and termination of volitional movements. Motor impersistence (i.e., failure to maintain movement) more frequently develops following right than left hemisphere lesions. PhenoTips:CHum owl:Class HP:0031442 biolink:NamedThing Abnormal tricuspid chordae tendinae morphology Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 13:37:09+00:00 peter owl:Class HP:0045029 biolink:NamedThing Eosinophilic fasciitis Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:24129002|MSH:C562487|UMLS:C0264005 HPO:skoehler owl:Class CHEBI:28892 biolink:NamedThing ganglioside A molecule composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids linked on the sugar chain. tmpxe7fu0cj_hp_relaxed.owl sialoglycosphingolipids|Ganglioside|gangliosides Wikipedia:Ganglioside|KEGG:C01808|LIPID_MAPS_class:LMSP0601|PMID:16158191|PMID:2088646 CHEBI:36525|CHEBI:5274|CHEBI:26669 chebi_ontology owl:Class HP:0012038 biolink:NamedThing Corneal guttata Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible. tmpxe7fu0cj_hp_relaxed.owl Corneal endothelial guttata SNOMEDCT_US:373424008|UMLS:C0271288 Corneal guttata are often observed in elderly people and are known to be associated with Fuchs corneal endothelial dystrophy, and also with trauma, congenital glaucoma, and macular dystrophy. peter 2012-07-27T02:06:24Z human_phenotype owl:Class HP:0004411 biolink:NamedThing Deviated nasal septum Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. tmpxe7fu0cj_hp_relaxed.owl Deviated nasal septum|Deviated septum of nose|Crooked septum of nose|Crooked nasal septum SNOMEDCT_US:126660000|UMLS:C0549397 peter 2008-03-18T09:23:00Z human_phenotype owl:Class HP:0004616 biolink:NamedThing Cleft vertebral arch A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra. tmpxe7fu0cj_hp_relaxed.owl Cleft vertebral arches UMLS:C1859458 human_phenotype owl:Class HP:0030859 biolink:NamedThing Anti-topoisomerase I antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I. tmpxe7fu0cj_hp_relaxed.owl Top1 antibody positivity|Topoisomerase (DNA) I antibody positivity|Anti-Scl-70 antibody positivity UMLS:C4280741 Anti-topoisomerase I antibodies are classically associated with interstitial lung disease (ILD) and the diffuse cutaneous form of systemic sclerosis. owl:Class UBERON:0004014 biolink:NamedThing labium minora One of the folds of skin which form the inner lips on both sides of the vaginal opening. tmpxe7fu0cj_hp_relaxed.owl labium minus|labium minus pudendi|labium minorum|labium minora|labia minorum MA:0002845|NCIT:C12307|FMA:20374|galen:LabiaMinora|UMLS:C0227766 http://upload.wikimedia.org/wikipedia/commons/b/b7/Vulva_labeled_english.jpg uberon owl:Class HP:0410232 biolink:NamedThing Increased anti-fungi IgE antibody level Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota. tmpxe7fu0cj_hp_relaxed.owl Increased anti-fungus IgE antibody level|Increased anti-fungal IgE antibody level 2018-10-03 21:57:01+00:00 owl:Class HP:0031301 biolink:NamedThing Peripheral arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall. tmpxe7fu0cj_hp_relaxed.owl Peripheral artery calcification 2017-08-26 20:56:01+00:00 Peripheral arterial calcification can be observed on radiographs and may be classified as either medial (linear calcifications in a train-track pattern) or atherosclerotic (distinct, nodular calcifications). A number of other techniques may also be used to detect peripheral arterial calcification including computed tomographic (CT) and magnetic resonance (MR) imaging, duplex ultrasonography, measurement of pulse wave velocity, echocardiography, planar radiographs, and indirectly, the ankle-brachial index. A discussion on the ontological description of peripheral arterial calcification can be found here: https://github.com/obophenotype/human-phenotype-ontology/issues/6877. peter owl:Class CHEBI:35950 biolink:NamedThing 4-oxo monocarboxylic acid tmpxe7fu0cj_hp_relaxed.owl 4-oxo monocarboxylic acids|4-oxo acid chebi_ontology owl:Class HP:0009102 biolink:NamedThing Anterior open-bite malocclusion Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion. tmpxe7fu0cj_hp_relaxed.owl Gap between upper and lower front teeth when biting|Apertognathia malocclusion|Anterior open bite between upper and lower teeth|Anterior openbite|AOB|Anterior open bite|Absence of overlap of anterior upper and lower teeth UMLS:C4024598 HP:0200095 owl:Class HP:0005968 biolink:NamedThing Temperature instability Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. tmpxe7fu0cj_hp_relaxed.owl Temperature instability|Body temperature instability UMLS:C1820737|UMLS:C3279038 owl:Class GO:0048713 biolink:NamedThing regulation of oligodendrocyte differentiation Any process that modulates the frequency, rate or extent of oligodendrocyte differentiation. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0410301 biolink:NamedThing Partial absence of specific antibody response to unconjugated pneumococcus vaccine A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 22:03:40+00:00 owl:Class HP:0004249 biolink:NamedThing Accessory lunate tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025392 human_phenotype owl:Class HP:0100492 biolink:NamedThing Joint contractures involving the joints of the feet Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022042 doelkens 2010-12-14T11:03:38Z human_phenotype owl:Class HP:0000918 biolink:NamedThing Scapular exostoses The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage. tmpxe7fu0cj_hp_relaxed.owl Shoulder bone exostoes|Scapulae exostoses UMLS:C1851415 human_phenotype owl:Class HP:0000065 biolink:NamedThing Labial hypertrophy tmpxe7fu0cj_hp_relaxed.owl Enlargement of the labia|Enlarged vaginal lips|Enlargement of the vaginal lips SNOMEDCT_US:16924008|UMLS:C0404531 owl:Class HP:0006370 biolink:NamedThing Distal ulnar epiphyseal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna. tmpxe7fu0cj_hp_relaxed.owl Distal ulnar epiphyseal calcifications UMLS:C4021600 human_phenotype owl:Class HP:0100661 biolink:NamedThing Trigeminal neuralgia A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected. tmpxe7fu0cj_hp_relaxed.owl Tic douloureux UMLS:C0040997|MSH:D014277|SNOMEDCT_US:31681005 doelkens 2010-12-30T11:53:47Z owl:Class NBO:0000469 biolink:NamedThing stress related behavior "Behavior related to how the body reacts to a stressor ( a stimulus that causes stress), real or imagined." [wikipedia:Stress_(biological)] tmpxe7fu0cj_hp_relaxed.owl 2011-04-08T01:52:36Z It refers to the consequence of the failure of an organism to respond adequately to mental, emotional or physical demands, whether actual or imagined. George Gkoutos behavior_ontology owl:Class HP:0033998 biolink:NamedThing Single-lobed right lung A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes. tmpxe7fu0cj_hp_relaxed.owl 2021-08-21 14:11:58+00:00 peter owl:Class HP:0500156 biolink:NamedThing Hyperasparaginemia An increased amount of asparagine in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood asaparagine levels|Increased blood asparagine concentration 2018-10-05 15:12:27+00:00 owl:Class HP:0031858 biolink:NamedThing Esophageal furrows Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus). tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 18:45:29+00:00 Esophageal furrows may occur in inflammatory disorders of the esophagus such as eosinophilic esophagitis. peter owl:Class HP:0002927 biolink:NamedThing Histidinuria An increased concentration of histidine in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine histidine levels|Elevated histidine in urine MSH:C538321|SNOMEDCT_US:78311009|UMLS:C0268642 Normal urinary histidine total (free and combined form) excretion is around 190 mg per 24 hours. HP:0010905 owl:Class HP:0011419 biolink:NamedThing Placental abruption Separation of the placenta from the uterus wall before delivery. tmpxe7fu0cj_hp_relaxed.owl Abruptio placentae SNOMEDCT_US:415105001|UMLS:C0000832|MSH:D000037|SNOMEDCT_US:405736009 peter 2012-03-15T11:08:18Z owl:Class GO:0045764 biolink:NamedThing positive regulation of cellular amino acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amino acid. tmpxe7fu0cj_hp_relaxed.owl activation of amino acid metabolic process|up-regulation of amino acid metabolic process|positive regulation of amino acid metabolism|stimulation of amino acid metabolic process|up regulation of amino acid metabolic process|upregulation of amino acid metabolic process biological_process owl:Class HP:0009797 biolink:NamedThing Cholesteatoma Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0008373|MSH:D002781|SNOMEDCT_US:575006|SNOMEDCT_US:363668000 peter 2009-02-11T05:20:04Z human_phenotype owl:Class HP:0100799 biolink:NamedThing Neoplasm of the middle ear A tumor (abnormal growth of tissue) of the middle ear. tmpxe7fu0cj_hp_relaxed.owl Neoplasia of the middle ear|Middle ear tumor|Middle ear tumour SNOMEDCT_US:127006003|NCIT:C3262|UMLS:C0345617 doelkens 2011-06-08T04:25:43Z human_phenotype owl:Class CL:0002274 biolink:NamedThing histamine secreting cell A cell type that secretes histamine. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2010-09-10T03:04:42Z cell owl:Class HP:0033082 biolink:NamedThing Reduced TSH response to thyrotrophin-releasing hormone stimulation test A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0021556 biolink:NamedThing central nervous system formation The process that gives rise to the central nervous system. This process pertains to the initial formation of a structure from unspecified parts. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0001742 biolink:NamedThing epiglottic cartilage The most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing. tmpxe7fu0cj_hp_relaxed.owl NCIT:C32526|MA:0001763|EMAPA:37522|FMA:55112|UMLS:C0458526 uberon owl:Class laryngeal cartilage in MP HP:0009667 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the thumb Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of thumb innermost long bone UMLS:C4024250 doelkens 2009-01-30T09:17:13Z human_phenotype owl:Class HP:0001176 biolink:NamedThing Large hands tmpxe7fu0cj_hp_relaxed.owl large hand|Large hands|Disproportionately large hands UMLS:C0426870|SNOMEDCT_US:249752003 HP:0002820|HP:0006219|HP:0006044 human_phenotype owl:Class HP:0004492 biolink:NamedThing Widely patent fontanelles and sutures An abnormally increased width of the cranial fontanelles and sutures. tmpxe7fu0cj_hp_relaxed.owl Widely patent fontanels and sutures UMLS:C1849300 This term indicates that both the fontanelles and the sutures are widely patent and thus represents a severe form of delay in closure of the fontanelles/sutures. HP:0005492|HP:0002646 human_phenotype owl:Class HP:0006988 biolink:NamedThing Alobar holoprosencephaly A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0431363|MSH:D016142|SNOMEDCT_US:253137003 owl:Class HP:0034040 biolink:NamedThing Bidirectional ventricular tachycardia Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm. tmpxe7fu0cj_hp_relaxed.owl 2021-09-25 12:28:13+00:00 peter owl:Class UBERON:0013751 biolink:NamedThing metaphysis of radius A metaphysis that is part of a radius bone. tmpxe7fu0cj_hp_relaxed.owl radial metaphysis FMA:33789 uberon owl:Class HP:0033904 biolink:NamedThing Renal arteriole intima/media hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 22:43:38+00:00 peter owl:Class HP:0012751 biolink:NamedThing Abnormal basal ganglia MRI signal intensity A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022745 peter 2014-03-30T06:47:28Z human_phenotype owl:Class CHEBI:30768 biolink:NamedThing propionic acid A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group. tmpxe7fu0cj_hp_relaxed.owl propionic acid|Propanoic acid|PA|ethylformic acid|Propionsaeure|propioic acid|methylacetic acid|metacetonic acid|ethanecarboxylic acid|pseudoacetic acid|propanoic acid|PROPANOIC ACID|acide propanoique|acide propionique|Propionic acid|CH3-CH2-COOH|carboxyethane|propoic acid 0 C3H6O2 InChI=1S/C3H6O2/c1-2-3(4)5/h2H2,1H3,(H,4,5) XBDQKXXYIPTUBI-UHFFFAOYSA-N 74.07850 74.03678 CCC(O)=O DrugBank:DB03766|Beilstein:506071|CAS:79-09-4|PMID:16763906|LIPID_MAPS_instance:LMFA01010003|PMID:1628870|PDBeChem:PPI|Gmelin:1821|KEGG:D02310|PMID:15868474|KEGG:C00163|PPDB:1341 CHEBI:8476|CHEBI:26304|CHEBI:45227 chebi_ontology owl:Class CL:0000443 biolink:NamedThing calcitonin secreting cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0032992 biolink:NamedThing Abnormal pulmonary fissure architecture An abnormal form or location of a pulmonary fissure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032991 biolink:NamedThing Abnormal pulmonary fissure morphology An abnormal form or number of the pulmonary fissures. tmpxe7fu0cj_hp_relaxed.owl A fissure is the infolding of visceral pleura that separates one lobe or part of a lobe from another; thus, the interlobar fissures are produced by two layers of visceral pleura. The azygos fissure, unlike the other fissures, is formed by two layers each of visceral and parietal pleura. Supernumerary fissures usually separate segments rather than lobes. Supernumerary fissures usually separate segments rather than lobes. peter owl:Class UBERON:0008457 biolink:NamedThing prezygapophysis of sacral vertebra A prezygapophysis that is part of a sacral vertebra. tmpxe7fu0cj_hp_relaxed.owl superior articular process of sacrum|superior articular process of sacral vertebra|processus articularis superior (os sacrum)|articular process of sacral segment|processus articularis superior ossis sacri|superior articular process of sacral segment FMA:16215 uberon owl:Class HP:0012855 biolink:NamedThing Scrotal hyperpigmentation Increased pigmentation (skin color) of the scrotum. tmpxe7fu0cj_hp_relaxed.owl Increased pigmentation in scrotum|Hyperpigmented scrotum|Hyperpigmentation of the scrotum UMLS:C4021062 This finding may be normal variation but can also be seen with congenital adrenal hyperplasia and other causes of excessive adrenocorticotrophic hormone (ACTH) stimulation. hecht 2014-06-08T11:03:38Z human_phenotype owl:Class HP:0009299 biolink:NamedThing Aplasia/Hypoplasia of the middle phalanx of the 4th finger tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped middle ring finger bone|Absent/small middle ring finger bone UMLS:C4024459 doelkens 2009-01-08T04:27:22Z human_phenotype owl:Class HP:0031878 biolink:NamedThing Acromicria Small hands and feet in proportion to the rest of the body. tmpxe7fu0cj_hp_relaxed.owl 2018-05-06 14:37:03+00:00 peter owl:Class HP:0011257 biolink:NamedThing Serpiginous crus of helix Curving course of the crus of the helix, approaching or joining the antitragus. tmpxe7fu0cj_hp_relaxed.owl Helix, crus, serpiginous UMLS:C4021183 peter 2011-12-18T05:56:25Z human_phenotype owl:Class CHEBI:26822 biolink:NamedThing sulfide Any sulfur molecular entity that involves either covalently bonded or anionic sulfur. tmpxe7fu0cj_hp_relaxed.owl sulphides chebi_ontology owl:Class HP:0034132 biolink:NamedThing Anti-GM2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:58:04+00:00 peter owl:Class HP:0500019 biolink:NamedThing Abnormal resting energy expenditure from metabolic cart test Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2). tmpxe7fu0cj_hp_relaxed.owl Abnormal metabolic cart test 2017-05-12 16:49:32+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0020090 biolink:NamedThing Post-vaccination polio Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 17:38:52+00:00 robinp owl:Class GO:0009620 biolink:NamedThing response to fungus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a fungus. tmpxe7fu0cj_hp_relaxed.owl response to fungi GO:0009621 biological_process owl:Class GO:0098858 biolink:NamedThing actin-based cell projection tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0033214 biolink:NamedThing Recurrent viral pneumonia Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias. tmpxe7fu0cj_hp_relaxed.owl 2020-10-12 12:53:27+00:00 peter owl:Class HP:0040221 biolink:NamedThing Hypoplasia of the dental root tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280722 owl:Class HP:0020145 biolink:NamedThing Calcium oxalate crystalluria The presence of calcium oxalate crystals in the urine. tmpxe7fu0cj_hp_relaxed.owl There are two types of calcium oxalate crystals, the dihydrate (or Wedellite) and the monohydrate (orWhewellite), which are frequently found together in the same sample. The former have mostly a typical bipyramidal shape, while the latter are more pleiomorphic, although the ovoid shape is the most frequent. Bipyramidal crystals are birefringent only when large or in aggregates, but even then birefringence is usually not intense. The monohydrates, however, are always strongly birefringent. Calcium oxalate may be found in normal subjects, often as a consequence of ingestion of foods like chocolate, beet-root, peanuts, rhubarb, spinach, etc., in stoneformers, in patients with hyperoxaluria, or after ethylene glycol poisoning. robinp 2019-07-05 19:06:11+00:00 owl:Class HP:0500075 biolink:NamedThing Dissociated horizontal deviation A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes. tmpxe7fu0cj_hp_relaxed.owl 2018-02-26 18:53:28+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0034010 biolink:NamedThing Increased megakaryocyte colony forming unit count Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl 2021-08-27 18:00:22+00:00 peter owl:Class HP:0030576 biolink:NamedThing Pinhole visual acuity 0.8 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073049 owl:Class HP:0031806 biolink:NamedThing Abnormal basophil count Any deviation from the normal number of basophils per volume in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2018-04-04 01:11:52+00:00 peter owl:Class HP:0410399 biolink:NamedThing Positive blood lead test Detection of lead in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased blood lead level owl:Class GO:0090322 biolink:NamedThing regulation of superoxide metabolic process Any process that modulates the rate, frequency, or extent of superoxide metabolism, the chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species. tmpxe7fu0cj_hp_relaxed.owl regulation of superoxide metabolism tb 2010-05-06T02:29:05Z biological_process owl:Class HP:0008794 biolink:NamedThing Dysplastic iliac wing A general term that describes a congenital defect in the iliac wing resulting from abnormal development. tmpxe7fu0cj_hp_relaxed.owl Dysplastic iliac wings UMLS:C1837487 owl:Class HP:0010309 biolink:NamedThing Bifid sternum The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum. tmpxe7fu0cj_hp_relaxed.owl Sternal cleft UMLS:C0265696|SNOMEDCT_US:54008006 Various degrees of bifid sternum may occur, varying from an enlarged suprasternal notch to complete separation of the two halves of the sternum. Ectopia cordis may or may not accompany this defect in its more severe form. peter 2009-07-12T02:23:18Z owl:Class HP:0011955 biolink:NamedThing Hepatic granulomatosis The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023110 peter 2012-06-21T09:11:32Z human_phenotype owl:Class HP:0002955 biolink:NamedThing Granulomatosis A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:44328006|UMLS:C0521173|SNOMEDCT_US:443138004 This finding can be demonstrated by tissue biopsy. A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). human_phenotype owl:Class GO:0055069 biolink:NamedThing zinc ion homeostasis Any process involved in the maintenance of an internal steady state of zinc ions within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl zinc homeostasis biological_process owl:Class HP:0003859 biolink:NamedThing Cortical diaphyseal thickening of the upper limbs tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025548 human_phenotype owl:Class HP:0020186 biolink:NamedThing Multilobulated spleen The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen. tmpxe7fu0cj_hp_relaxed.owl Multi-lobulated spleen Sometimes a splenic lobule may extend medially anterior to the upper pole of the left kidney and less often posterior to the upper pole of the left kidney. Although these lobules are not of any clinical importance, close relation of the splenic lobule to the upper pole of the left kidney may cause misinterpretations as a mass originating from the kidney by the radiologists. robinp 2019-09-03 12:36:55+00:00 owl:Class HP:0200116 biolink:NamedThing Distal ileal atresia tmpxe7fu0cj_hp_relaxed.owl UMLS:C3279409 sebastiankohler 2013-06-06T04:14:39Z human_phenotype owl:Class HP:0009304 biolink:NamedThing Patchy sclerosis of the distal phalanx of the 4th finger Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger. tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the outermost bone of the ring finger UMLS:C4024456 doelkens 2009-01-08T04:41:33Z human_phenotype owl:Class HP:0010592 biolink:NamedThing Abnormality of the distal tibial epiphysis tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of outermost shinbone|Abnormality of the end part of outermost shankbone UMLS:C4023781 sandra1 2009-10-22T03:03:04Z human_phenotype owl:Class HP:0009652 biolink:NamedThing Bullet-shaped thumb phalanx An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped thumb bone|Bullet-shaped phalanges of the thumb UMLS:C4021415 doelkens 2009-01-29T05:29:26Z human_phenotype owl:Class HP:0025253 biolink:NamedThing Claustrophobia An abnormal fear of being in a closed or narrow space with no escape. tmpxe7fu0cj_hp_relaxed.owl 2016-12-17 14:14:59+00:00 HPO:probinson owl:Class HP:0004864 biolink:NamedThing Refractory sideroblastic anemia A type of sideroblastic anemia that is not responsive to treatment. tmpxe7fu0cj_hp_relaxed.owl Refractory sideroblastic anaemia UMLS:C0002896|MSH:D000756|SNOMEDCT_US:41841004 human_phenotype owl:Class HP:0001924 biolink:NamedThing Sideroblastic anemia Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). tmpxe7fu0cj_hp_relaxed.owl Hypersideremic anemia|Hypersideremic anaemia|Sideroblastic anaemia SNOMEDCT_US:41841004|UMLS:C0002896|MSH:D000756 Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low. HP:0100791 human_phenotype owl:Class HP:0008818 biolink:NamedThing Large iliac wing Increased size of the ilium ala. tmpxe7fu0cj_hp_relaxed.owl Large iliac wings UMLS:C4024618 owl:Class UBERON:0015233 biolink:NamedThing nucleus of dorsal thalamus A nucleus of brain that is part of a dorsal thalamus. tmpxe7fu0cj_hp_relaxed.owl nucleus of thalamus proper|dorsal thalamic nucleus uberon owl:Class HP:0030392 biolink:NamedThing Choroid plexus carcinoma Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0431109|MSH:C562943|SNOMEDCT_US:88252006 owl:Class HP:0025281 biolink:NamedThing Sharp Applied to pain that is described as sharp, i.e., sudden and severe. tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 15:23:03+00:00 HPO:probinson owl:Class UBERON:2000238 biolink:NamedThing olfactory tract linking bulb to ipsilateral ventral telencephalon tmpxe7fu0cj_hp_relaxed.owl ZFA:0000238 teleost_anatomy_curators uberon owl:Class HP:0033980 biolink:NamedThing Paroxysmal tonic upgaze Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness. tmpxe7fu0cj_hp_relaxed.owl 2021-07-15 11:36:24+00:00 peter owl:Class HP:0012398 biolink:NamedThing Peripheral edema An abnormal accumulation of interstitial fluid in the soft tissues of the limbs. tmpxe7fu0cj_hp_relaxed.owl Peripheral oedema UMLS:C0085649|SNOMEDCT_US:271809000|SNOMEDCT_US:82014009 peter 2013-11-08T08:09:45Z human_phenotype owl:Class HP:0100435 biolink:NamedThing Bullet-shaped middle phalanx of the 4th toe An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped middle bone of the 4th toe UMLS:C4022092 human_phenotype owl:Class HP:0006277 biolink:NamedThing Pancreatic hyperplasia Hyperplasia of the pancreas. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851733 Hyperplasia is defined in MPATH as an increase in cell numbers in comparison to normal as a consequence of increased cell proliferation. Hyperplasia is a non -neoplastic process. human_phenotype owl:Class HP:0030624 biolink:NamedThing Subretinal hyporeflective spaces on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073094 owl:Class HP:0001808 biolink:NamedThing Fragile nails Nails that easily break. tmpxe7fu0cj_hp_relaxed.owl Brittle nails UMLS:C1856963 HP:0001796 owl:Class HP:0011908 biolink:NamedThing Unilateral radial aplasia Missing radius bone on one side only associated with congenital failure of development. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023135 peter 2012-06-03T06:46:52Z human_phenotype owl:Class HP:0100233 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the innermost bone of the pinkie toe|Speckled calcifications in the end part of the innermost bone of the little toe|Speckled calcifications in the end part of the innermost bone of the pinky toe UMLS:C4022188 doelkens 2010-06-24T05:04:53Z human_phenotype owl:Class HP:0031133 biolink:NamedThing Increased annexin V binding to platelet phosphatidylserine Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 12:54:03+00:00 peter owl:Class HP:0031132 biolink:NamedThing Impaired annexin V binding to platelet phosphatidylserine Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 12:39:22+00:00 peter owl:Class HP:0030241 biolink:NamedThing Hypoplasia of deltoid muscle Underdevelopment of the deltoid muscle. tmpxe7fu0cj_hp_relaxed.owl Deltoid muscle hypoplasia UMLS:C1868170 HP:0009044|HP:0009039 owl:Class HP:0030111 biolink:NamedThing Reduced muscle fiber delta sarcoglycan Abnormally reduced amount of delta sarcoglycan in muscle. tmpxe7fu0cj_hp_relaxed.owl Reduced muscle fibre delta sarcoglycan UMLS:C4022634 owl:Class HP:0030105 biolink:NamedThing Abnormal muscle fiber delta sarcoglycan Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre delta sarcoglycan UMLS:C4022640 owl:Class HP:0006162 biolink:NamedThing Soft tissue swelling of interphalangeal joints tmpxe7fu0cj_hp_relaxed.owl Soft tissue swelling of hinge joints UMLS:C1854913 human_phenotype owl:Class HP:0040266 biolink:NamedThing Proximal upper limb muscle hypertrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280686 owl:Class HP:0002724 biolink:NamedThing Recurrent Aspergillus infections An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections. tmpxe7fu0cj_hp_relaxed.owl Aspergillus infections, recurrent UMLS:C4021752 human_phenotype owl:Class HP:0006980 biolink:NamedThing Progressive leukoencephalopathy Leukoencephalopathy that gets more severe with time. tmpxe7fu0cj_hp_relaxed.owl Leukoencephalopathy, progressive UMLS:C1855010 human_phenotype owl:Class HP:0032535 biolink:NamedThing Cervical (neck) Applies to an abnormality that is situated in the neck. tmpxe7fu0cj_hp_relaxed.owl 2019-05-27 13:12:21+00:00 peter owl:Class GO:0032109 biolink:NamedThing positive regulation of response to nutrient levels Any process that activates or increases the frequency, rate or extent of a response to nutrient levels. tmpxe7fu0cj_hp_relaxed.owl up-regulation of response to nutrient levels|stimulation of response to nutrient levels|activation of response to nutrient levels|up regulation of response to nutrient levels|upregulation of response to nutrient levels biological_process owl:Class CHEBI:35471 biolink:NamedThing psychotropic drug A loosely defined grouping of drugs that have effects on psychological function. tmpxe7fu0cj_hp_relaxed.owl psychopharmaceuticals|psychoactive agent|psychotropic drugs|psychoactive drugs Wikipedia:Psychotropic_drug chebi_ontology owl:Class CHEBI:35470 biolink:NamedThing central nervous system drug A class of drugs producing both physiological and psychological effects through a variety of mechanisms involving the central nervous system. tmpxe7fu0cj_hp_relaxed.owl CNS drugs|central nervous system agents|CNS agent chebi_ontology owl:Class HP:0025152 biolink:NamedThing Poor visual behavior for age Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones. tmpxe7fu0cj_hp_relaxed.owl Poor visual behaviour for age|Abnormal visual behaviour for age|Abnormal visual behavior for age 2016-12-03 21:34:47+00:00 A failure to meet age-related milestones in areas such as (i) focusing ability, (ii) eye coordinationg and tracking of objects in the visual field, (iii) depth perception, (iv) color perception, and (v) object and face recognition. These milestones are generally met in the first three months of life, and failure to meet them may indicate abnormal visual development or function. HPO:probinson owl:Class NBO:0000248 biolink:NamedThing obsessive-compulsive disorder "A pathological anxiety primarily characterized by repetitive obsessions (distressing, persistent, and intrusive thoughts or images) and compulsions (urges to perform specific acts or rituals)." [wikipedia:Obsessive%E2%80%93compulsive_disorder] HP:0000722 tmpxe7fu0cj_hp_relaxed.owl OCD 2011-04-04T08:52:42Z George Gkoutos behavior_ontology owl:Class HP:0025704 biolink:NamedThing Type 3 schizencephaly A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter. tmpxe7fu0cj_hp_relaxed.owl This is a severe form of schizencephaly that can manifest by refractory epilepsy, intellectual disability, varying degrees of paralysis from hemiparesis to quadriparesis. peterrobinson owl:Class HP:0031463 biolink:NamedThing Esophageal squamous papilloma A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 16:18:41+00:00 peter owl:Class HP:0410324 biolink:NamedThing Dust mite allergy Hypersensitivity in form of an adverse immune reaction against dust mites. tmpxe7fu0cj_hp_relaxed.owl Allergy to dust mites|IgE-mediated dust mite allergy|Immunoglobulin E-mediated dust mite allergy|Dust mite allergy owl:Class HP:0500076 biolink:NamedThing Alternating hypertropia A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards. tmpxe7fu0cj_hp_relaxed.owl 2018-02-26 19:13:10+00:00 ORCID:0000-0001-7941-2961 owl:Class CHEBI:38716 biolink:NamedThing carboxylic acid dianion Any dianion containing at least one carboxy group. tmpxe7fu0cj_hp_relaxed.owl carboxylic acid dianion|carboxylic acid dianions chebi_ontology owl:Class HP:0500260 biolink:NamedThing Triggered by head trauma Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma. tmpxe7fu0cj_hp_relaxed.owl Head trauma triggered symptoms 2019-04-30 14:17:10+00:00 owl:Class HP:0031135 biolink:NamedThing Triggered by physical trauma Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue). tmpxe7fu0cj_hp_relaxed.owl Physical trauma triggered symptoms 2017-06-10 13:29:55+00:00 peter owl:Class HP:0010518 biolink:NamedThing Thyroglossal cyst An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct. tmpxe7fu0cj_hp_relaxed.owl Thyroglossal duct cyst UMLS:C0040124|SNOMEDCT_US:39462005|MSH:D013955 A developmental defect resulting in the presence of a thyroglossal cyst, a fibrous cyst that forms from a persistent thyroglossal duct. During the embryologic development of the thyroid gland, the precursor of the thyroid migrates from the base of the tongue inferiorly though the thyroglossal duct. This duct normally disappears following the development and migration of the thyroid gland, but if a portion of the duct remain it can form a thyroglossal cyst. peter 2009-09-19T04:38:04Z human_phenotype owl:Class HP:0000019 biolink:NamedThing Urinary hesitancy Difficulty in beginning the process of urination. tmpxe7fu0cj_hp_relaxed.owl Difficulty with flow SNOMEDCT_US:5972002|UMLS:C0152032 human_phenotype owl:Class HP:0030480 biolink:NamedThing Abnormal timing of light-adapted flicker electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072970 owl:Class HP:0006751 biolink:NamedThing Paraspinal neurofibromas tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024985 human_phenotype owl:Class HP:0011072 biolink:NamedThing Rootless teeth tmpxe7fu0cj_hp_relaxed.owl Rootless teeth|Agenesis of tooth root|Absence of tooth root|Teeth without roots|Tooth with dentin dysplasia type i|Missing tooth root|Aplasia of tooth root SNOMEDCT_US:109493006|UMLS:C4082200|MSH:C538215|UMLS:C0399379 peter 2011-03-10T03:56:41Z human_phenotype owl:Class HP:0041187 biolink:NamedThing Fractured proximal phalanx of pedal digit 1 A partial or complete breakage of the proximal phalanx of pedal digit 1. tmpxe7fu0cj_hp_relaxed.owl bone proximal phalanx of pedal digit 1 owl:Class UBERON:0014438 biolink:NamedThing superior pubic ramus The superior pubic ramus is a part of the pubic bone which forms a portion of the obturator foramen. It extends from the body to the median plane where it articulates with its fellow of the opposite side. It is conveniently described in two portions, viz. , a medial flattened part and a narrow lateral prismoid portion. tmpxe7fu0cj_hp_relaxed.owl superior ramus of the pubis|superior ramus of pubis|superior rami of the pubes FMA:16988 uberon owl:Class HP:0032176 biolink:NamedThing Apical pulmonary opacity An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space. tmpxe7fu0cj_hp_relaxed.owl Apical pleural thickening|Apical cap 2019-01-06 11:20:30+00:00 The usual appearance is of homogeneous soft-tissue attenuation capping the extreme lung apex (uni- or bilaterally), with a sharp or irregular lower border (See Figure 6 of PMID:18195376). Thickness is variable, ranging up to about 30 mm. An apical cap occasionally mimics apical consolidation on transverse CT scans. peter owl:Class HP:0012552 biolink:NamedThing Increased neutrophil nuclear projections Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022851 peter 2014-01-01T03:41:24Z human_phenotype owl:Class HP:0007776 biolink:NamedThing Sparse lower eyelashes tmpxe7fu0cj_hp_relaxed.owl Thin lower eyelashes|Hypotrichosis of lower eyelashes|Partial absence of lower eyelashes|Scanty lower eyelashes|Sparse lower eyelashes UMLS:C1835148 HP:0007785 human_phenotype owl:Class HP:0006921 biolink:NamedThing Axial muscle stiffness Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024962 human_phenotype owl:Class HP:0040286 biolink:NamedThing Abnormal axial muscle morphology A structural anomaly of the muscles of the trunk and head. tmpxe7fu0cj_hp_relaxed.owl Abnormality of axial muscles ORCID:0000-0002-5316-1399 owl:Class HP:0025027 biolink:NamedThing Osteoma cutis The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin. tmpxe7fu0cj_hp_relaxed.owl Cutaneous osteosis|Miliary osteoma|Osteomatosis 2016-08-26 12:11:51+00:00 HPO:probinson owl:Class HP:0100136 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the outermost bone of the 3rd toe UMLS:C4022285 doelkens 2010-06-24T10:23:44Z human_phenotype owl:Class HP:0005216 biolink:NamedThing Impaired mastication An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing. tmpxe7fu0cj_hp_relaxed.owl Chewing difficulty|Difficulty chewing|Chewing difficulties UMLS:C0239043|SNOMEDCT_US:162020001 Chewing and swallowing are interrelated. The act of chewing plays a fundamental role in the process of swallowing food. Mastication prepares food for swallowing by breaking it into small particles. Accordingly, loss of teeth has been associated with swallowing difficulties. Chewing difficulties may be caused by loss of teeth, partial dentures, or by tooth pain. Swallowing difficulties, in contrast, are often characterized by difficulties swallowing liquids, reflux, throat spasms, choking on dry food, or dysphagia. owl:Class HP:0003324 biolink:NamedThing Generalized muscle weakness Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. tmpxe7fu0cj_hp_relaxed.owl Generalised weakness|Generalised muscle weakness|Muscle weakness, diffuse|Muscle weakness, generalized|Generalized weakness|Muscle weakness, generalised UMLS:C0746674 HP:0003686|HP:0003723 human_phenotype owl:Class GO:2000196 biolink:NamedThing positive regulation of female gonad development Any process that activates or increases the frequency, rate or extent of female gonad development. tmpxe7fu0cj_hp_relaxed.owl positive regulation of ovary development|positive regulation of ovarian development yaf 2010-10-19T10:45:41Z biological_process owl:Class HP:0007408 biolink:NamedThing Tegumentary leishmaniasis susceptibility Increased susceptibility to infection by the protozan parasite of the genus Leishmania. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2748501 human_phenotype owl:Class HP:0005386 biolink:NamedThing Recurrent protozoan infections Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025202 human_phenotype owl:Class HP:0034106 biolink:NamedThing Anti-Su antigen/argonaute 2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2. tmpxe7fu0cj_hp_relaxed.owl Anti-Su antibody positivity|Anti-Ago2 antibody positivity 2021-12-19 15:08:15+00:00 peter owl:Class HP:0005926 biolink:NamedThing Abnormality of hand cortical bone An anomaly of the outer shell (cortex) of a hand bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the cortex of hand bones UMLS:C4025105 peter 2008-03-27T02:29:00Z human_phenotype owl:Class UBERON:0001622 biolink:NamedThing lacrimal artery The lacrimal artery arises close to the optic foramen, and is one of the largest branches derived from the ophthalmic artery: not infrequently it is given off before the artery enters the orbit. It accompanies the lacrimal nerve along the upper border of the Lateral Rectus, supplies the lacrimal gland. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl a. lacrimalis FMA:49927|MA:0001988|EMAPA:37094|UMLS:C0226171|NCIT:C52948 http://upload.wikimedia.org/wikipedia/commons/c/ce/Gray514.png uberon owl:Class HP:0006892 biolink:NamedThing Frontotemporal cerebral atrophy Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum. tmpxe7fu0cj_hp_relaxed.owl Cerebral atrophy, frontotemporal UMLS:C4021584 human_phenotype owl:Class HP:0030626 biolink:NamedThing Foveal intraretinal hyporeflective spaces on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073096 owl:Class HP:0032472 biolink:NamedThing Abnormal urine urobilinogen level An abnormal concentration of urobilinogen in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 11:53:12+00:00 peter owl:Class HP:0100008 biolink:NamedThing Schwannoma A benign nerve sheath tumor composed of Schwann cells. tmpxe7fu0cj_hp_relaxed.owl Neurolemmoma|Schwann cell tumor|Neurinoma|Schwann cell tumour|Schwannomas|Neurilemmoma SNOMEDCT_US:985004|UMLS:C0027809|SNOMEDCT_US:404022001|MSH:D009442 Glial cells are cells that support nerve cells. Schwann cells wrap around the axon to form the myelin sheath. Schwann cells are involved in many important aspects of peripheral nerve biology; the conduction of nervous impulses along axons, nerve development and regeneration, trophic support for neurons, production of the nerve extracellular matrix and presentation of antigens to T-lymphocytes. Charcot-Marie-Tooth disease (CMT), Guillain-Barre syndrome (GBS), schwannomatosis and chronic inflammatory demyelinating polyneuropathy (CIDP) are all neuropathies involving Schwann cells. doelkens 2010-05-14T09:13:07Z human_phenotype owl:Class HP:0030888 biolink:NamedThing C3 nephritic factor positivity The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb). tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0011779 biolink:NamedThing Anaplastic thyroid carcinoma tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:255031003|MSH:D065646|UMLS:C0238461 peter 2012-04-22T06:02:52Z human_phenotype owl:Class HP:0030516 biolink:NamedThing Homonymous hemianopia tmpxe7fu0cj_hp_relaxed.owl Homonymous hemianopsia MSH:D006423|SNOMEDCT_US:34063005|UMLS:C0271202 owl:Class HP:0007437 biolink:NamedThing Multiple cutaneous leiomyomas The presence of multiple leiomyomas of the skin. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3157|UMLS:C1708350|MSH:C535516 human_phenotype owl:Class HP:0040319 biolink:NamedThing Dark urine An abnormal dark color of the urine. tmpxe7fu0cj_hp_relaxed.owl http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean ORCID:0000-0002-5316-1399 owl:Class HP:0031672 biolink:NamedThing Reverse typical atrial flutter A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 16:47:28+00:00 peter owl:Class HP:0025600 biolink:NamedThing Abnormal inferior rectus muscle physiology A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 21:31:55+00:00 HPO:probinson owl:Class PATO:0001159 biolink:NamedThing concentrated A concentration quality inhering in a bearer by virtue of the bearer's exhibiting concentration. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0000033 biolink:NamedThing concentration of A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance. tmpxe7fu0cj_hp_relaxed.owl concentration quality owl:Class HP:0100644 biolink:NamedThing Melanonychia Brown or black discoloration of the nails. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:402633003|MEDDRA:10058330|UMLS:C1142305 doelkens 2010-12-29T06:00:12Z human_phenotype owl:Class HP:0011020 biolink:NamedThing Abnormality of mucopolysaccharide metabolism An abnormality of the metabolism of mucopolysaccharide. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023592 peter 2011-02-23T07:58:02Z human_phenotype owl:Class HP:0032642 biolink:NamedThing Renal interstitial necrotizing granulomas An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. tmpxe7fu0cj_hp_relaxed.owl Renal interstitial necrotizing granulomata Granulomatous inflammation is a distinctive form of chronic inflammation produced in response to various infectious, autoimmune, toxic, allergic, and neoplastic conditions. peter owl:Class HP:0031079 biolink:NamedThing Impaired growth-hormone response to insulin stimulation test Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT). tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 23:33:58+00:00 peter owl:Class HP:0031075 biolink:NamedThing Abnormal response to insulin tolerance test An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 23:17:20+00:00 peter owl:Class HP:0009796 biolink:NamedThing Branchial cyst A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. tmpxe7fu0cj_hp_relaxed.owl Branchial cleft cyst|Branchial cysts SNOMEDCT_US:42362005|UMLS:C0006131|MSH:D001935|SNOMEDCT_US:59857007 Branchial cyst have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear. peter 2009-02-11T05:18:08Z human_phenotype owl:Class HP:0010098 biolink:NamedThing Complete duplication of the 1st metatarsal A developmental defect consisting in the complete duplication of the first metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the 1st long bone of foot UMLS:C4024050 doelkens 2009-05-29T12:20:12Z HP:0008121 human_phenotype owl:Class HP:0002616 biolink:NamedThing Aortic root aneurysm An abnormal localized widening (dilatation) of the aortic root. tmpxe7fu0cj_hp_relaxed.owl Bulge in wall of root of large artery that carries blood away from heart|Aortic root dilatation|Increased aortic root diameter SNOMEDCT_US:251036003|UMLS:C0238669 HP:0004750|HP:0002631|HP:0005125 human_phenotype owl:Class HP:0008463 biolink:NamedThing Central vertebral hypoplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024672 human_phenotype owl:Class HP:0032244 biolink:NamedThing Decreased serum thromboxane B2 A reduction in the concentration of thromboxane B2 in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 12:14:04+00:00 peter owl:Class UBERON:0004109 biolink:NamedThing cortex of humerus The outer or sperficial part of the humerus. tmpxe7fu0cj_hp_relaxed.owl humerus compact bone|cortex of the humerus|compact bone of humerus|humerus cortical bone FMA:31542 uberon owl:Class HP:0003893 biolink:NamedThing Advanced ossification of the humeral epiphysis Ossification of the humeral epiphysis at an earlier age than normal. tmpxe7fu0cj_hp_relaxed.owl Advanced maturation of the humeral epiphyses|Accelerated maturation of end part of long bone in upper arm UMLS:C4020836|UMLS:C4025526 human_phenotype owl:Class HP:0000376 biolink:NamedThing Incomplete partition of the cochlea type II IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation. tmpxe7fu0cj_hp_relaxed.owl Mondini malformation UMLS:C1857078|UMLS:C4025857 human_phenotype owl:Class UBERON:0006617 biolink:NamedThing left external ear An external ear that is in the left side of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl left auricular region FMA:53644|EMAPA:37360 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern HP:0020042 biolink:NamedThing Double depressor palsy An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. tmpxe7fu0cj_hp_relaxed.owl 2017-12-20 17:12:54+00:00 robinp owl:Class HP:0200068 biolink:NamedThing Nonprogressive visual loss tmpxe7fu0cj_hp_relaxed.owl Decreased visual acuity, nonprogressive UMLS:C4021893|UMLS:C3553696 sebastiankohler 2013-05-31T01:36:51Z human_phenotype owl:Class HP:0032397 biolink:NamedThing Citrullinuria An increased concentration of citrulline in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 16:59:47+00:00 Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle. peter owl:Class HP:0007596 biolink:NamedThing Painful subcutaneous lipomas The presence of multiple subcutaneous lipoma that cause pain. tmpxe7fu0cj_hp_relaxed.owl Painful noncancerous fat tissue tumour under the skin|Painful noncancerous fat tissue tumor under the skin UMLS:C4024838 human_phenotype owl:Class GO:0045785 biolink:NamedThing positive regulation of cell adhesion Any process that activates or increases the frequency, rate or extent of cell adhesion. tmpxe7fu0cj_hp_relaxed.owl upregulation of cell adhesion|up regulation of cell adhesion|stimulation of cell adhesion|activation of cell adhesion|up-regulation of cell adhesion biological_process owl:Class HP:0005185 biolink:NamedThing Global systolic dysfunction A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1847397 human_phenotype owl:Class HP:0006673 biolink:NamedThing Reduced systolic function tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025008 human_phenotype owl:Class HP:0011235 biolink:NamedThing Additional crus of antihelix Supernumerary ridge or crus of the ear arising from the antihelix. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023447 The supernumerary crus usually emanates posteriorly from the antihelix at, or just above, the point of its bifurcation but may have a different origin. In the former case, the finding is termed Stahl ear. peter 2011-12-15T07:16:54Z human_phenotype owl:Class HP:0011935 biolink:NamedThing Decreased urinary urate Decreased concentration of urate in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023118 Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. peter 2012-06-10T02:19:49Z human_phenotype owl:Class PATO:0002288 biolink:NamedThing decreased elasticity An elasticity which is relatively low. tmpxe7fu0cj_hp_relaxed.owl 2011-03-30T11:50:39Z quality owl:Class PATO:0001171 biolink:NamedThing elastic An elasticity quality inhering in a bearer by virtue of the bearer's ability to recover its size and shape after deformation in any way. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0011152 biolink:NamedThing Early onset absence seizures Typical absence seizures starting before the age of 4 years. tmpxe7fu0cj_hp_relaxed.owl Early onset petit mal seizures UMLS:C4023510 peter 2011-10-18T02:12:41Z human_phenotype owl:Class UBERON:0004245 biolink:NamedThing oviduct smooth muscle A portion of smooth muscle tissue that is part of a fallopian tube [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl fallopian tube involuntary muscle|fallopian tube smooth muscle|smooth muscle tissue of fallopian tube|fallopian tube non-striated muscle|involuntary muscle of fallopian tube|non-striated muscle of fallopian tube|smooth muscle of fallopian tube|fallopian tube smooth muscle tissue EMAPA:29046|MA:0001721 uberon owl:Class UBERON:0001297 biolink:NamedThing serosa of uterus Outer serosa layer of the uterus. tmpxe7fu0cj_hp_relaxed.owl uterine serosa|serous coat of uterus|tunica serosa uteri|perimetrium|uterus serous membrane|tunica serosa (perimetrium)|serous membrane of uterus|visceral peritoneum of uterus|uterus serosa MA:0001729|NCIT:C33298|EMAPA:37792|FMA:17744|UMLS:C0227824 Illu:cervix.jpg TODO - check for parallel structure with peritoneum uberon owl:Class CHEBI:36147 biolink:NamedThing oxo dicarboxylate tmpxe7fu0cj_hp_relaxed.owl oxo-dicarboxylic acid dianion|oxo dicarboxylates|oxo-dicarboxylic acid dianions chebi_ontology owl:Class HP:0032285 biolink:NamedThing Ultra-low vision with retained light projection Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus. tmpxe7fu0cj_hp_relaxed.owl 2019-02-10 13:53:42+00:00 peter owl:Class UBERON:0008883 biolink:NamedThing osteoid Bone tissue that is an unmineralized bone matrix deposited by osteoblasts prior to the mineralization of bone tissue. tmpxe7fu0cj_hp_relaxed.owl pre-bone|osteoid tissue|prebone|prebone tissue VSAO:0000046|FMA:66830|EMAPA:37923|XAO:0004035|NCIT:C33228|galen:Osteoid|UMLS:C0682561 Active:osteoblasts.jpg uberon owl:Class Newly formed organic bone matrix secreted by osteoblasts, that exists prior to calcification; it is comprised mainly of type I collagen fibers, chondroitin sulfate and osteocalci[ISBN:0-683-40008-8]n|Bone tissue that is an unmineralized bone matrix deposited by osteoblasts prior to the mineralization of bone tissue.[VSAO] Note that in VSAO this was classified both as tissue and acellular extracellular matrix. Consider also the AEO class 'bone condensation'. is_a intercellular matrix in FMA. HP:0025636 biolink:NamedThing Endometritis Inflammation of the inner lining of the uterus (endometrium). tmpxe7fu0cj_hp_relaxed.owl Inflammation of the inner lining of the uterus|Endometrial inflammation 2019-04-26 17:48:41+00:00 HPO:probinson owl:Class HP:0008738 biolink:NamedThing Partially duplicated kidney The presence of a partially duplicated kidney. tmpxe7fu0cj_hp_relaxed.owl Partially duplicated kidney UMLS:C4024630 human_phenotype owl:Class HP:0009120 biolink:NamedThing Aplasia/Hypoplasia involving the sinuses Absence or underdevelopment of a cranial sinus or sinuses. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024587 peter 2008-04-05T11:01:00Z human_phenotype owl:Class GO:0030501 biolink:NamedThing positive regulation of bone mineralization Any process that activates or increases the frequency, rate or extent of bone mineralization. tmpxe7fu0cj_hp_relaxed.owl stimulation of bone mineralization|upregulation of bone mineralization|up-regulation of bone mineralization|activation of bone mineralization|up regulation of bone mineralization biological_process owl:Class HP:0011293 biolink:NamedThing EEG with central sharp waves EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2207327 peter 2012-02-11T12:32:48Z human_phenotype owl:Class HP:0011711 biolink:NamedThing Left anterior fascicular block Conduction block in the anterior division of the left bundle branch of the bundle of His. tmpxe7fu0cj_hp_relaxed.owl Left anterior hemiblock SNOMEDCT_US:37760005|UMLS:C0264912 peter 2012-04-11T08:02:03Z human_phenotype owl:Class HP:0025729 biolink:NamedThing Fetal vascular malperfusion The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is throught to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.). tmpxe7fu0cj_hp_relaxed.owl Findings consistent with FVM are thrombosis, segmental avascular villi, and villous stromal-vascular karyorrhexis. Other possible markers include vascular intramural fibrin deposition, stem vessel obliteration/fibromuscular sclerosis, and vascular ectasia. If data are available it is preferable to annotate the individual phenotypic features with specific HPO terms. peterrobinson owl:Class HP:0005600 biolink:NamedThing Congenital giant melanocytic nevus The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child. tmpxe7fu0cj_hp_relaxed.owl Giant pigmented nevus|Giant pigmented mole|Giant pigmented hairy nevus UMLS:C1842036|SNOMEDCT_US:254815002|SNOMEDCT_US:10291008|MSH:C536819 Between 4% and 6% of these lesions will develop into a malignant melanoma. HP:0005604 human_phenotype owl:Class HP:0030804 biolink:NamedThing Trachyonychia Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0546956|SNOMEDCT_US:69192004 The most common histopathologic findings of trachyonychia are spongiosis and exocytosis of inflammatory cells in the nail epithelia1. Although idiopathic trachyonychia may be much more common than reported, it may present with various associated skin or mucosal diseases including alopecia areata, lichen planus, psoriasis, and eczema. Trachyonychia predominantly occurs in children, although it can affect people of all ages. Trachyonychia can improve spontaneously but may have a chronic course exceeding 6 years and result in cosmetic handicaps. owl:Class HP:3000009 biolink:NamedThing Abnormality of nasalis muscle An abnormality of a nasalis muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073218 vasilevs 2015-02-26T03:55:52Z human_phenotype owl:Class UBERON:0006127 biolink:NamedThing funiculus of spinal cord A funiculus of neuraxis that is part of a spinal cord. tmpxe7fu0cj_hp_relaxed.owl white column of spinal cord|spinal cord funiculus FMA:77460 uberon owl:Class HP:0032203 biolink:NamedThing Lymphoid nodular hyperplasia Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236). tmpxe7fu0cj_hp_relaxed.owl Lymphonodular hyperplasia of the colon 2019-01-20 14:41:25+00:00 The presence of LNH in the mucosa of the colon and/or terminal ileum is a frequent finding (30%) in children undergoing colonoscopy. Unless associated with other endoscopic lesions, LNH is mostly related to a condition of delayed-type food hypersensitivity and affects mainly preschool or school-age children with hematochezia. peter owl:Class HP:0020095 biolink:NamedThing Prolonged need of intravenous antibiotic therapy Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 17:48:52+00:00 robinp owl:Class HP:0004006 biolink:NamedThing Round radial epiphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025451 human_phenotype owl:Class HP:0045090 biolink:NamedThing Minor finding In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0045088 biolink:NamedThing Clinical relevance Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis. tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0005651 biolink:NamedThing pedal digit 4 epithelium An epithelium that is part of a pedal digit 4. tmpxe7fu0cj_hp_relaxed.owl hind limb digit 4 epithelium|foot digit 4 epithelium|pedal digit IV epithelium EMAPA:17470|EHDAA2:0002053 uberon owl:Class HP:0032842 biolink:NamedThing Generalized-onset epileptic spasm A type of epileptic spasm of generalized onset. tmpxe7fu0cj_hp_relaxed.owl Generalised onset epileptic spasm|Generalised-onset epileptic spasm|Generalized onset epileptic spasm peter owl:Class HP:0008922 biolink:NamedThing Childhood-onset short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood. tmpxe7fu0cj_hp_relaxed.owl Short-trunk dwarfism identifiable during childhood|Childhood-onset short-trunk short stature|Disproportionate short-trunk short stature, identifiable in childhood UMLS:C3148833 HP:0003522 human_phenotype owl:Class UBERON:0012248 biolink:NamedThing cervical mucosa Lining of the head of the uterus (cervix); contains large branched glands; does not undergo sloughing. tmpxe7fu0cj_hp_relaxed.owl BTO:0000411 uberon owl:Class UBERON:0003253 biolink:NamedThing neck of rib The neck of the rib is the flattened portion which extends lateralward from the head; it is about 2.5 cm. long, and is placed in front of the transverse process of the lower of the two vertebrC& with which the head articulates. Its anterior surface is flat and smooth, its posterior rough for the attachment of the ligament of the neck, and perforated by numerous foramina. Of its two borders the superior presents a rough crest (crista colli costE) for the attachment of the anterior costotransverse ligament; its inferior border is rounded. On the posterior surface at the junction of the neck and body, and nearer the lower than the upper border, is an eminencebthe tubercle; it consists of an articular and a non-articular portion. The articular portion, the lower and more medial of the two, presents a small, oval surface for articulation with the end of the transverse process of the lower of the two vertebrC& to which the head is connected. The non-articular portion is a rough elevation, and affords attachment to the ligament of the tubercle. The tubercle is much more prominent in the upper than in the lower ribs. tmpxe7fu0cj_hp_relaxed.owl collum costae|rib neck FMA:7576|EMAPA:37826 http://upload.wikimedia.org/wikipedia/commons/5/5c/Gray122.png uberon owl:Class GO:0120305 biolink:NamedThing regulation of pigmentation Any process that modulates the frequency, rate or extent of the deposition or modulates the distribution of coloring matter in an organism. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/20524 krc 2021-02-09T19:37:35Z biological_process owl:Class HP:0005035 biolink:NamedThing Shortening of all phalanges of the toes Developmental hypoplasia (shortening) of all phalanges of the foot. tmpxe7fu0cj_hp_relaxed.owl Short toe bones UMLS:C4025257 human_phenotype owl:Class CL:0000381 biolink:NamedThing neurosecretory neuron tmpxe7fu0cj_hp_relaxed.owl FBbt:00005130 cell owl:Class HP:0033486 biolink:NamedThing Abnormal glomerular basement membrane texture Anomalous appearance or structure of the surface of the glomerular basement membrane. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 12:45:09+00:00 peter owl:Class HP:0004875 biolink:NamedThing Neonatal inspiratory stridor tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025281 human_phenotype owl:Class HP:0002643 biolink:NamedThing Neonatal respiratory distress Respiratory difficulty as newborn. tmpxe7fu0cj_hp_relaxed.owl Respiratory distress, neonatal|Newborn respiratory distress|Infantile respiratory distress|Neonatal respiratory distress UMLS:C0852283 human_phenotype owl:Class HP:0410181 biolink:NamedThing Increased glucose-6-phosphate dehydrogenase level in dried blood spot An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. tmpxe7fu0cj_hp_relaxed.owl Increased G6PD level in dried blood spot|Increased glucose-6-phosphate dehydrogenase level in DBS 2018-05-21 17:58:20+00:00 owl:Class HP:0031766 biolink:NamedThing Convergence excess esotropia An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:48:11+00:00 peter owl:Class HP:0020046 biolink:NamedThing Accommodative esotropia A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex. tmpxe7fu0cj_hp_relaxed.owl 2017-12-20 17:25:43+00:00 Accommodative esotropia refers to strabismus (cross of the eyes) that occurs with focusing efforts of the eyes. robinp owl:Class MPATH:579 biolink:NamedThing ulcer Loss of epithelium and the basement membrane (full thickness). Cf Erosion. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0009998 biolink:NamedThing Complete duplication of phalanx of hand A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of hand bones UMLS:C4024121 doelkens 2009-05-26T02:30:16Z human_phenotype owl:Class HP:0011879 biolink:NamedThing Decreased platelet glycoprotein Ib-IX-V Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023150 The glycoprotein Ib-IX-V complex forms a specific platelet membrane adhesion receptor, which binds the adhesive glycoprotein, von Willebrand factor (vWF), in the vessel wall or plasma. peter 2012-05-31T04:01:34Z human_phenotype owl:Class HP:0500077 biolink:NamedThing Alternating hyperphoria A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards. tmpxe7fu0cj_hp_relaxed.owl 2018-02-26 19:15:24+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0025585 biolink:NamedThing Hyperphoria Tendency for the visual axis of one eye to be higher than that of the other. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 19:42:23+00:00 HPO:probinson owl:Class HP:0012247 biolink:NamedThing Specific anosmia Anosmia for one particular odor. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022994 peter 2013-04-02T07:20:11Z owl:Class HP:0011783 biolink:NamedThing Thyrotoxicosis from ectopic thyroid tissue tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:87232008|UMLS:C0154148 peter 2012-04-22T06:10:51Z human_phenotype owl:Class HP:0009983 biolink:NamedThing Partial duplication of the proximal phalanx of the 4th finger Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the innermost bone of the ring finger UMLS:C4024129 doelkens 2009-05-26T02:20:37Z human_phenotype owl:Class UBERON:0012126 biolink:NamedThing fibulare One of two elements that constitute the basal row of tarsals. The fibulare constitutes the preaxial element[AAO]. tmpxe7fu0cj_hp_relaxed.owl astragalus AAO:0000913 uberon owl:Class One of two element that constitute the basal row of tarsals. The fibulare constitutes the preaxial element. In salamanders this element is aproximatelly rounded, whereas in anurans it is an elongate, cylindrical bone with the proximal and distal heads fused to the heads of the tibiale.[AAO] In salamanders this element is aproximatelly rounded, whereas in anurans it is an elongate, cylindrical bone with the proximal and distal heads fused to the heads of the tibiale UBERON:0002109 biolink:NamedThing pair of nares Pair of nostrils. tmpxe7fu0cj_hp_relaxed.owl pair of nostrils|nares set|nostrils|set of nares|nares FMA:72005|OpenCyc:Mx4rvViCLpwpEbGdrcN5Y29ycA uberon owl:Class this is a 'set of anatomical planes' in FMA HP:0011075 biolink:NamedThing Green teeth A green staining of teeth. tmpxe7fu0cj_hp_relaxed.owl Green coloured teeth|Green colored teeth|Green tooth shade|Green teeth UMLS:C4023549 Green teeth are a rare finding in children with neonatal hyperbilirubinaemia due to blood group incompatibility, sepsis-induced cholestasis or biliary atresia. Rarely, green staining of the teeth may be seen with cholestasis and sepsis. peter 2011-03-10T05:23:18Z human_phenotype owl:Class HP:0012045 biolink:NamedThing Retinal flecks Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0423414|SNOMEDCT_US:247138002 peter 2012-08-01T12:17:00Z human_phenotype owl:Class HP:0011549 biolink:NamedThing Univentricular heart with absent left sided atrioventricular connection tmpxe7fu0cj_hp_relaxed.owl Univentricular heart with absent left sided atrioventricular connexion UMLS:C4023305 peter 2012-04-07T11:31:18Z human_phenotype owl:Class UBERON:0002928 biolink:NamedThing dentate gyrus polymorphic layer A cellular layer of the dentate gyrus enclosed by the granule cell layer. A number of cell types are located in the polymorphic layer but the most prominent is the mossy cell. tmpxe7fu0cj_hp_relaxed.owl polymorph layer of the dentate gyrus|CA4 MA:0002864|NLX:42439|BIRNLEX:4128|BAMS:PoDG|MBA:10704|EMAPA:35280|BAMS:po TODO: add mossy cell uberon owl:Class GO:0042753 biolink:NamedThing positive regulation of circadian rhythm Any process that activates or increases the frequency, rate or extent of a circadian rhythm behavior. tmpxe7fu0cj_hp_relaxed.owl up-regulation of circadian rhythm|upregulation of circadian rhythm|activation of circadian rhythm|stimulation of circadian rhythm|up regulation of circadian rhythm biological_process owl:Class HP:0031589 biolink:NamedThing Suicidal ideation Frequent thinking about or preoccupation with killing oneself. tmpxe7fu0cj_hp_relaxed.owl Suicidality 2017-10-14 13:24:50+00:00 peter owl:Class HP:0040235 biolink:NamedThing Leukocyte inclusion bodies The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes. tmpxe7fu0cj_hp_relaxed.owl Dohle-like leukocyte inclusion bodies|Inclusion bodies in leukocytes UMLS:C4280711 This term has been requested and created by members of the BRIDGE consortium owl:Class HP:0008264 biolink:NamedThing Neutrophil inclusion bodies The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021547 HP:0001932 human_phenotype owl:Class HP:0031357 biolink:NamedThing Glomeruloid hemangioma A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 15:44:04+00:00 peter owl:Class MAXO:0001170 biolink:NamedThing venous ultrasonography The use of ultrasound to produce images of structures in the venous blood vessel. tmpxe7fu0cj_hp_relaxed.owl venous blood vessel sonography|venous blood vessel ultrasound procedure|venous blood vessel medical ultrasound|sonography of venous blood vessel|venous blood vessel ultrasound examination|venous sonography|venous blood vessel ultrasound imaging procedure|ultrasonography of venous blood vessel|venous blood vessel diagnostic sonography 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-3010 owl:Class HP:0032999 biolink:NamedThing Increased fecal porphyrin Abnormally high concentration of fecal porphyrins in feces. tmpxe7fu0cj_hp_relaxed.owl Increased faecal porphyrin peter owl:Class HP:0032315 biolink:NamedThing Areolar fullness The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 11:27:08+00:00 peter owl:Class HP:0500060 biolink:NamedThing Retinopathy of prematurity zone II Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata. tmpxe7fu0cj_hp_relaxed.owl ROP zone II 2018-02-19 19:52:54+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0007402 biolink:NamedThing Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024886 human_phenotype owl:Class HP:0030854 biolink:NamedThing Scleral staphyloma A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. tmpxe7fu0cj_hp_relaxed.owl Staphyloma SNOMEDCT_US:111534007|UMLS:C0155359 Most staphylomas occur in the posterior pole, usually due to pathological or degenerative myopia. Anterior staphylomas are less frequent. They generally occur after longstanding mistreated or untreated infections in a previously healthy eye and are commonly associated with fungal corneal ulcers. In other cases, they may follow chronic inflammatory diseases such as necrotizing scleritis. owl:Class GO:0006721 biolink:NamedThing terpenoid metabolic process The chemical reactions and pathways involving terpenoids, any member of a class of compounds characterized by an isoprenoid chemical structure and including derivatives with various functional groups. tmpxe7fu0cj_hp_relaxed.owl terpenoid metabolism biological_process owl:Class HP:0003513 biolink:NamedThing Reduced ratio of renal calcium clearance to creatinine clearance A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01. tmpxe7fu0cj_hp_relaxed.owl Reduced ration of renal Ca2+ to creatinine clearance|Reduced ration of renal Ca clearance to creatinine clearance|Reduced ration of kidney calcium clearance to creatinine clearance UMLS:C4025605 human_phenotype owl:Class HP:0001343 biolink:NamedThing Kernicterus Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:74925009|SNOMEDCT_US:50143004|MSH:D007647|UMLS:C0022610 human_phenotype owl:Class UBERON:0010893 biolink:NamedThing median external naris Am unpaired external naris that lies in the midline of the head. tmpxe7fu0cj_hp_relaxed.owl median nostril|nasohypophysial opening|median anterior naris UBERON:0012123 uberon owl:Class CHEBI:35740 biolink:NamedThing liposaccharide tmpxe7fu0cj_hp_relaxed.owl liposaccharides chebi_ontology owl:Class HP:0040314 biolink:NamedThing Blind vagina The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia. tmpxe7fu0cj_hp_relaxed.owl Blind-ended vagina owl:Class HP:0011888 biolink:NamedThing Bleeding requiring red cell transfusion Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4). tmpxe7fu0cj_hp_relaxed.owl Bleeding requiring red cell transfusion UMLS:C4023144 peter 2012-06-02T11:31:44Z human_phenotype owl:Class HP:0041226 biolink:NamedThing Fractured distal tarsal bone A partial or complete breakage of the distal tarsal bone. tmpxe7fu0cj_hp_relaxed.owl bone distal tarsal bone owl:Class HP:0030486 biolink:NamedThing Abnormal timing of pattern electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072976 owl:Class HP:0410231 biolink:NamedThing Increased anti-egg IgE antibody level Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid. tmpxe7fu0cj_hp_relaxed.owl 2018-10-03 21:39:10+00:00 owl:Class HP:0033956 biolink:NamedThing Cortical radial artery lymphocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries. tmpxe7fu0cj_hp_relaxed.owl Endoarterial hypercellularity within interlobular artery consisting of lymphocytes 2021-06-24 12:29:21+00:00 peter owl:Class UBERON:0018593 biolink:NamedThing upper central primary incisor tooth A upper primary canine tooth that is in_the_central_side_of a dentition. tmpxe7fu0cj_hp_relaxed.owl upper central deciduous incisor tooth|upper primary tooth A FMA:84216 uberon owl:Class UBERON:0018603 biolink:NamedThing upper central incisor tooth An incisor tooth that is in_the_central_side_of a dentition and is part of a upper jaw region. tmpxe7fu0cj_hp_relaxed.owl maxillary central incisor|upper central incisor FMA:290180 uberon owl:Class HP:0003883 biolink:NamedThing Tapered humerus tmpxe7fu0cj_hp_relaxed.owl Tapered long bone of upper arm UMLS:C4025531 human_phenotype owl:Class HP:0010862 biolink:NamedThing Delayed fine motor development A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023681 peter 2010-08-03T05:44:08Z human_phenotype owl:Class HP:0032059 biolink:NamedThing Mild malformation of cortical development A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 11:35:14+00:00 peter owl:Class HP:0004041 biolink:NamedThing Cupped ulnar metaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025422 human_phenotype owl:Class GO:0097474 biolink:NamedThing retinal cone cell apoptotic process Any apoptotic process in a retinal cone cell, one of the two photoreceptor cell types of the vertebrate retina. tmpxe7fu0cj_hp_relaxed.owl cone photoreceptor apoptotic process pr 2013-03-21T09:46:22Z biological_process owl:Class HP:0033235 biolink:NamedThing Difficulty descending stairs Reduced ability to desscend stairs. tmpxe7fu0cj_hp_relaxed.owl Difficulty walking down stairs 2020-10-31 13:07:11+00:00 peter owl:Class HP:0020148 biolink:NamedThing Increased circulating mead acid level An abnormally elevated concentration od mead acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated serum Mead acid as a proportion of total fatty acids is an indirect marker of a deficiency of essential fatty acids. robinp 2019-07-05 19:33:18+00:00 owl:Class GO:0044307 biolink:NamedThing dendritic branch A dendrite arising from another dendrite. tmpxe7fu0cj_hp_relaxed.owl secondary dendrite|dendrite branch NIF_Subcellular:sao884265541 jl 2010-02-05T04:18:53Z cellular_component owl:Class HP:0008232 biolink:NamedThing Elevated circulating follicle stimulating hormone level An elevated concentration of follicle-stimulating hormone in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated FSH level|Elevated plasma follicle stimulating hormone|Elevated follicle-stimulating hormone|Elevated follicle stimulating hormone|Increased circulating follicle stimulating hormone level UMLS:C4021550 HP:0008324 human_phenotype owl:Class HP:0005017 biolink:NamedThing Polyarticular chondrocalcinosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025258 human_phenotype owl:Class HP:0012254 biolink:NamedThing Ewing sarcoma A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. tmpxe7fu0cj_hp_relaxed.owl Ewing's sarcoma|Ewing sarcoma UMLS:C0553580|MSH:D012512|SNOMEDCT_US:76909002 Histologically, Ewing's sarcoma is composed of a homogeneous population of small round cells with high nuclear to cytoplasmic ratios that are arrayed in sheets. There is scant cytoplasms, which is pale, vacuolated and characterized by faded boundaries. In contrast, the nuclei are clearly visualized by their intense color. Mitotic activity is typically low. peter 2013-04-07T01:54:14Z human_phenotype owl:Class HP:0100242 biolink:NamedThing Sarcoma A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. tmpxe7fu0cj_hp_relaxed.owl Malignant connective tissue tumor|Cancer of connective tissue|Malignant connective tissue tumour SNOMEDCT_US:269469005|SNOMEDCT_US:424952003|SNOMEDCT_US:424413001|NCIT:C9118|UMLS:C1261473|MSH:D012509|SNOMEDCT_US:2424003 A sarcoma (from the Greek sarx meaning flesh) is a general term describing a malignant neoplasm, or cancer, that arises from transformed connective tissue cells such as bone, cartilage and fat cells, which originate from embryonic mesoderm. This is in contrast to carcinomas, which are of epithelial origin (breast, colon, pancreas, and others). However, due to an evolving understanding of tissue origin, the term sarcoma is sometimes applied to tumors now known to arise from epithelial tissue. The term soft tissue sarcoma is used to describe tumors of soft tissue, which includes elements that are in connective tissue, but not derived from it (such as muscles and blood vessels). doelkens 2010-07-08T10:43:57Z human_phenotype owl:Class HP:0004238 biolink:NamedThing Lytic defects of carpal bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025400 human_phenotype owl:Class HP:0025122 biolink:NamedThing Sawtooth acanthosis A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis. tmpxe7fu0cj_hp_relaxed.owl Sawtoothed acanthosis 2016-11-14 01:39:51+00:00 HPO:probinson owl:Class UBERON:0001394 biolink:NamedThing axillary artery Artery that supplies the axilla. tmpxe7fu0cj_hp_relaxed.owl axillary part of trunk of subclavian artery|axillary part of subclavian artery|arteria axillaris GAID:473|galen:AxillaryArtery|MESH:D001366|OpenCyc:Mx4rwRh-vZwpEbGdrcN5Y29ycA|FMA:22654|UMLS:C0004455|EMAPA:18749|MA:0002573|NCIT:C32169 Axillary:limits.PNG uberon owl:Class In human anatomy, the axillary artery is a large blood vessel that conveys oxygenated blood to the lateral aspect of the thorax, the axilla (armpit) and the upper limb. Its origin is at the lateral margin of the first rib, before which it is called the subclavian artery. After passing the lower margin of teres major it becomes the brachial artery. HP:0004618 biolink:NamedThing Sandwich appearance of vertebral bodies tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850134 human_phenotype owl:Class HP:0020202 biolink:NamedThing Abnormal Z disc morphology Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. tmpxe7fu0cj_hp_relaxed.owl Z-discs (Z-disk, Z-line, Z-band) delineate the lateral borders of sarcomeres and are the smallest functional units in striated muscle. The core of a Z-disc consists of actin filaments coming from adjacent sarcomeres which are crosslinked by alpha-actinin molecules. Z-discs, which are difficult to detect in conventional light microscopy, appear in the longitudinal view of electron microscopy as electron dense bands with varying sizes, ranging from 30 to 50 nm in fast muscle and 100 t0 140 nm in slow muscle and cardiac myocytes. robinp 2019-12-23 15:57:40+00:00 owl:Class HP:0020201 biolink:NamedThing Abnormal sarcomere morphology Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-12-23 15:56:20+00:00 owl:Class UBERON:0018600 biolink:NamedThing lower second primary molar tooth tmpxe7fu0cj_hp_relaxed.owl lower primary tooth E|lower second deciduous molar tooth FMA:84237 TODO - tooth numbering nomeculature to be aligned across species uberon owl:Class GO:0017126 biolink:NamedThing nucleologenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a nucleolus, a small, dense body one or more of which are present in the nucleus of eukaryotic cells. tmpxe7fu0cj_hp_relaxed.owl nucleolus assembly|nucleolus biogenesis biological_process owl:Class HP:0030431 biolink:NamedThing Osteochondroma A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone. tmpxe7fu0cj_hp_relaxed.owl Osteocartilaginous exostoses|Osteochondromas UMLS:C0029423|SNOMEDCT_US:52299001|MSH:D015831|SNOMEDCT_US:307573009|SNOMEDCT_US:443093007 owl:Class HP:0001215 biolink:NamedThing Camptodactyly of 2nd-5th fingers The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859368 human_phenotype owl:Class GO:1901964 biolink:NamedThing positive regulation of cell proliferation involved in outflow tract morphogenesis Any process that activates or increases the frequency, rate or extent of cell proliferation involved in outflow tract morphogenesis. tmpxe7fu0cj_hp_relaxed.owl activation of cell proliferation involved in outflow tract morphogenesis|up regulation of cell proliferation involved in outflow tract morphogenesis|up-regulation of cell proliferation involved in outflow tract morphogenesis|upregulation of cell proliferation involved in outflow tract morphogenesis dph 2013-02-20T20:30:31Z biological_process owl:Class GO:0060933 biolink:NamedThing His-Purkinje system cell development The process whose specific outcome is the progression of a His-Purkinje cell over time, from its formation to the mature state. These cells form the fibers that regulate cardiac muscle contraction in the ventricles. tmpxe7fu0cj_hp_relaxed.owl dph 2009-09-29T01:15:02Z biological_process owl:Class HP:0012489 biolink:NamedThing Suprasellar arachnoid cyst An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022882 As the cyst increases in size it fills and occludes the third ventricle, and distorts and blocks the aqueduct, which finally results in hydrocephalus. peter 2013-11-29T09:11:20Z owl:Class NBO:0000162 biolink:NamedThing REM duration "Duration of REM sleep." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-03-31T03:15:38Z George Gkoutos behavior_ontology owl:Class HP:0005676 biolink:NamedThing Rudimentary postaxial polydactyly of hands tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025158 human_phenotype owl:Class HP:0011638 biolink:NamedThing Anomalous origin of left coronary artery from the pulmonary artery Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve. tmpxe7fu0cj_hp_relaxed.owl Anomalous left coronary artery from the pulmonary artery|ALCAPA|Bland-Garland-White syndrome SNOMEDCT_US:450301003|UMLS:C3472166|Fyler:3101 In this anomaly the function of the LMCA territory often requires extensive collateral formation from the RCA, which is often dilated. In the first month of life, physiologic pulmonary hypertension tends to preserve anterograde flow within the left coronary artery, and infants are usually asymptomatic. As pulmonary pressure drops, left-to-right shunting from the higher pressure left coronary arterial system to the lower pressure pulmonary arterial system occurs, and patients become symptomatic. Imaging findings may include markedly dilated collateral arteries and coronary veins. peter 2012-04-09T08:40:53Z human_phenotype owl:Class HP:0005720 biolink:NamedThing Shortening of all metacarpals Abnormal reduction in length of all metacarpal bones. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025149 human_phenotype owl:Class GO:0061190 biolink:NamedThing regulation of sclerotome development Any process that modulates the rate, frequency, or extent of the progression of the sclerotome over time, from its initial formation to the mature structure. The sclerotome is the portion of the somite that will give rise to a vertebra. tmpxe7fu0cj_hp_relaxed.owl dph 2010-07-14T09:19:47Z biological_process owl:Class HP:0100599 biolink:NamedThing Bifid penis Two penile structures, separated from the tip to the base of the shaft. tmpxe7fu0cj_hp_relaxed.owl Penile duplication|Diphallia SNOMEDCT_US:253851000|UMLS:C0345322 In individuals with complete duplication often one will find Hypospadias, Epispadias, Bladder exstrophy, or Bifid scrotum, which should be coded separately, as well as urinary tract duplications, renal anomalies, and gastrointestinal duplications. The terms indicate the presence of (part of) two penises, but do not indicate whether they are caused by splitting or double formation. doelkens 2010-12-27T05:17:57Z human_phenotype owl:Class HP:0031390 biolink:NamedThing Reduced MHC II surface expression A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 17:00:49+00:00 peter owl:Class HP:0008542 biolink:NamedThing Low-frequency hearing loss A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz). tmpxe7fu0cj_hp_relaxed.owl Low-frequency hearing loss UMLS:C0271514|SNOMEDCT_US:42538001 human_phenotype owl:Class HP:0009745 biolink:NamedThing Spinal arachnoid cyst Presence of arachnoid cysts of the spinal canal extradurally in the epidural space. tmpxe7fu0cj_hp_relaxed.owl Epidural arachnoid cysts of the spinal canal UMLS:C4021393 peter 2009-01-31T02:22:38Z owl:Class HP:0025292 biolink:NamedThing Acral Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose). tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 16:15:24+00:00 HPO:probinson owl:Class CHEBI:35604 biolink:NamedThing carbon oxoanion A negative ion consisting solely of carbon and oxygen atoms, and therefore having the general formula CxOy(n-) for some integers x, y and n. tmpxe7fu0cj_hp_relaxed.owl carbon oxoanions|oxocarbon anions|carbon oxoanion|oxocarbon anion chebi_ontology owl:Class HP:0002508 biolink:NamedThing Brainstem dysplasia A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord. tmpxe7fu0cj_hp_relaxed.owl Malformation of brainstem structures|Brainstem hypoplasia/dysplasia UMLS:C1855677 HP:0006991 human_phenotype owl:Class HP:0012458 biolink:NamedThing Medial calcification of small arteries Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022894 The general construction of small arteries is very similar to that of muscular arteries. The media is still muscular and has up to 8-10 layers of smooth muscle cells. A discussion on the logical definition can be found here: https://github.com/obophenotype/human-phenotype-ontology/issues/6877. peter 2013-11-24T11:13:13Z owl:Class HP:0100460 biolink:NamedThing Osteolytic defects of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Osteolytic defects of the outermost bone of the 5th toe UMLS:C4022067 human_phenotype owl:Class GO:0007407 biolink:NamedThing neuroblast activation A change in the morphology or behavior of a neuroblast resulting from exposure to an activating factor such as a cellular or soluble ligand. tmpxe7fu0cj_hp_relaxed.owl GO:0043351|GO:0043352 biological_process owl:Class PATO:0001453 biolink:NamedThing detached from An attachment quality inhering in a bearer by virtue of the bearer's lacking connection or association with another entity. tmpxe7fu0cj_hp_relaxed.owl detached quality owl:Class PATO:0001435 biolink:NamedThing attachment quality A structural quality inhering in a bearer by virtue of the bearer's having connection or association with another entity. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0001937 biolink:NamedThing spatulate A shape quality inhering in a bearer by virtue of the bearer's being oblong, with the lower end very much attenuated. tmpxe7fu0cj_hp_relaxed.owl spathulate quality owl:Class HP:0033937 biolink:NamedThing Cortical radial artery intima/media coagulative necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. tmpxe7fu0cj_hp_relaxed.owl 2021-06-24 01:41:26+00:00 peter owl:Class HP:0041233 biolink:NamedThing Fractured ilium A partial or complete breakage of the ilium. tmpxe7fu0cj_hp_relaxed.owl bone ilium owl:Class HP:0001474 biolink:NamedThing Sclerotic scapulae Increased density of the bony tissue of the scapula. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849263 human_phenotype owl:Class CHEBI:3992 biolink:NamedThing cyclic ketone tmpxe7fu0cj_hp_relaxed.owl Cyclic ketone|cyclic ketones KEGG:C02019 chebi_ontology owl:Class HP:0025103 biolink:NamedThing Umbilicated nodule A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated). tmpxe7fu0cj_hp_relaxed.owl 2016-10-28 07:30:43+00:00 HPO:probinson owl:Class HP:0100395 biolink:NamedThing Short proximal phalanx of the 3rd toe Abnormal reduction in length of proximal phalanx of third toe. tmpxe7fu0cj_hp_relaxed.owl Short proximal phalanx of the third toe|Hypoplastic/small proximal phalanx of the 3rd toe UMLS:C4021002 owl:Class HP:0033552 biolink:NamedThing Chronic villitis Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis. tmpxe7fu0cj_hp_relaxed.owl Nonspecific chronic villitis|Villitis of unknown etiology|Villitis of unknown aetiology|Chronic villitis (non-infectious) 2021-01-22 12:38:39+00:00 peter owl:Class HP:0030903 biolink:NamedThing Grasp reflex A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]. tmpxe7fu0cj_hp_relaxed.owl Palmar grasp reflex owl:Class HP:0004717 biolink:NamedThing Axial malrotation of the kidney An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025300 human_phenotype owl:Class PATO:0000136 biolink:NamedThing closure A morphological quality pertaining to the degree to which an object contains an opening, aperture, orifice or vent. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0410005 biolink:NamedThing Cleft hard palate tmpxe7fu0cj_hp_relaxed.owl Cleft of hard palate|Cleft bony palate SNOMEDCT_US:448915004|UMLS:C0432090 owl:Class GO:0045779 biolink:NamedThing negative regulation of bone resorption Any process that stops, prevents, or reduces the frequency, rate or extent of bone resorption. tmpxe7fu0cj_hp_relaxed.owl down regulation of bone resorption|down-regulation of bone resorption|inhibition of bone resorption|downregulation of bone resorption biological_process owl:Class HP:0033736 biolink:NamedThing Grade II vesicoureteral reflux Vesicoureteral reflux into a non-dilated pyelocalyceal system. tmpxe7fu0cj_hp_relaxed.owl Grade II VUR|VUR II 2021-04-16 14:00:01+00:00 peter owl:Class HP:0031127 biolink:NamedThing Impaired convulxin-induced platelet aggregation Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 12:31:53+00:00 peter owl:Class HGNC:13633 biolink:NamedThing ADIPOQ (human) A protein coding gene ADIPOQ in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class GO:0060474 biolink:NamedThing positive regulation of flagellated sperm motility involved in capacitation tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0034043 biolink:NamedThing Increased fecal bile acid Elevated amount of bile acids in the feces. tmpxe7fu0cj_hp_relaxed.owl 2021-10-15 13:54:55+00:00 Bile acids are synthesized from cholesterol in the liver and have major roles in the absorption of lipids in the small intestine. After their involvement in micelle formation in the small intestine, they are usually effectively reabsorbed in the terminal ileum, and efficiently (over 95%) reabsorbed by the liver from the portal venous blood, and resecreted. peter owl:Class HP:0008808 biolink:NamedThing High iliac wing Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). tmpxe7fu0cj_hp_relaxed.owl Narrow, high iliac wings|High iliac wings UMLS:C1969680 HP:0008778 owl:Class HP:0034111 biolink:NamedThing Anti-MIT3 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 15:15:09+00:00 peter owl:Class HP:0008482 biolink:NamedThing Asymmetry of spinal facet joints tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024669 human_phenotype owl:Class HP:0000152 biolink:NamedThing Abnormality of head or neck An abnormality of head and neck. tmpxe7fu0cj_hp_relaxed.owl Head and neck abnormality|Abnormality of head or neck UMLS:C4021817 human_phenotype owl:Class NBO:0000160 biolink:NamedThing sleep duration tmpxe7fu0cj_hp_relaxed.owl 2011-03-31T03:09:27Z George Gkoutos behavior_ontology owl:Class HP:0003876 biolink:NamedThing Osteoporotic humerus tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025535 human_phenotype owl:Class HP:0010987 biolink:NamedThing Abnormal cellular immune system morphology An abnormality of the morphology or counts of the cells that make up the immune system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023612 peter 2011-02-08T12:49:47Z human_phenotype owl:Class HP:0005150 biolink:NamedThing Abnormal atrioventricular conduction An impairment of the electrical continuity between the atria and ventricles. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025244 human_phenotype owl:Class CHEBI:36358 biolink:NamedThing polyatomic ion An ion consisting of more than one atom. tmpxe7fu0cj_hp_relaxed.owl polyatomic ions chebi_ontology owl:Class UBERON:0022355 biolink:NamedThing basal layer of endometrium The layer of endometrial epithelium adjacent to the uterine cavity. tmpxe7fu0cj_hp_relaxed.owl stratum basalis of endometrium|pars basalis of endometrium FMA:86492|NCIT:C32189 uberon owl:Class PATO:0002165 biolink:NamedThing drooping To bent or hang downwards. tmpxe7fu0cj_hp_relaxed.owl sagging 2009-12-02T03:32:55Z quality owl:Class HP:0003463 biolink:NamedThing Increased extraneuronal autofluorescent lipopigment Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. tmpxe7fu0cj_hp_relaxed.owl Lipopigment in extraneuronal cells UMLS:C1859828 human_phenotype owl:Class HP:0009569 biolink:NamedThing Broad middle phalanx of the 2nd finger Increased width of the middle phalanx of the second finger. tmpxe7fu0cj_hp_relaxed.owl Broad middle bone of the index finger UMLS:C4024288 doelkens 2009-01-28T05:10:24Z human_phenotype owl:Class HP:0010442 biolink:NamedThing Polydactyly A congenital anomaly characterized by the presence of supernumerary fingers or toes. tmpxe7fu0cj_hp_relaxed.owl More than five fingers or toes on hands or feet UMLS:C0152427|Fyler:4103|SNOMEDCT_US:367506006|MSH:D017689 doelkens 2009-07-29T01:39:27Z HP:0009605|HP:0006046|HP:0006034|HP:0006123 human_phenotype owl:Class HP:0031990 biolink:NamedThing Chvostek sign A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve. tmpxe7fu0cj_hp_relaxed.owl 2018-07-09 14:41:30+00:00 The Chvostek sign is considered to be a clinical indicator of hypocalcemia. peter owl:Class HP:0004058 biolink:NamedThing Hand monodactyly tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025415 human_phenotype owl:Class HP:0025488 biolink:NamedThing Detrusor sphincter dyssynergia A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 17:09:10+00:00 Detrusor sphincter dyssynergia (DSD) is associated with neurologic conditions such as spinal cord injury, multiple sclerosis, and spina bifida and some of these neurogenic bladder patients with DSD may be at risk for autonomic dysreflexia, recurrent urinary tract infections, or upper tract compromise if the condition is not followed and treated appropriately. It is diagnosed most commonly during the voiding phase of urodynamic studies using EMG recordings and voiding cystourethrograms, although urethral pressure monitoring could also potentially be used. HPO:probinson owl:Class HP:0010949 biolink:NamedThing Abnormality of umbilical vein blood flow A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023631 Umbilical vein blood flow (UVBF) is closely related to the mass of placental cotyledons and is considered an expression of the amount of oxygen and nutrients transferred from the mother to the fetus. peter 2011-01-16T04:15:43Z owl:Class HP:0030008 biolink:NamedThing Cervical agenesis Congenital absence of the cervix. tmpxe7fu0cj_hp_relaxed.owl Aplasia of the cervix|Absent cervix|Cervical aplasia SNOMEDCT_US:37687000|UMLS:C0266404 owl:Class HP:0010890 biolink:NamedThing Morbus Osgood-Schlatter Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae. tmpxe7fu0cj_hp_relaxed.owl Osgood Schlatter disease UMLS:C0029376|SNOMEDCT_US:72047008|SNOMEDCT_US:79353000|MSH:D055034 Painfull irritation and localized bony necrosis affecting the Tuberositas tibiae, where tha patellar tendon inserts. sdoelken 2010-09-25T11:04:19Z human_phenotype owl:Class HP:0100323 biolink:NamedThing Juvenile aseptic necrosis Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers. tmpxe7fu0cj_hp_relaxed.owl Aseptic epiphyseal necrosis UMLS:C4020710|UMLS:C4022146 Causes may be rapid growth, heredity, trauma or overuse and anatomic conformation. doelkens 2010-08-10T04:02:42Z human_phenotype owl:Class GO:0031643 biolink:NamedThing positive regulation of myelination Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons. tmpxe7fu0cj_hp_relaxed.owl stimulation of myelination|activation of myelination|up regulation of myelination|up-regulation of myelination|upregulation of myelination biological_process owl:Class HP:0032651 biolink:NamedThing Elevated CSF chitinase-3-like protein 1 level Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0030924 biolink:NamedThing 5-minute APGAR score of 4 tmpxe7fu0cj_hp_relaxed.owl 2016-11-07 18:14:43+00:00 robinp owl:Class HP:0030443 biolink:NamedThing Anal margin basal cell carcinoma A basal cell carcinoma that originates in the anal margin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1332269 owl:Class HP:0032341 biolink:NamedThing Reduced forced vital capacity An abnormal reduction in the amount of air a person can expel following maximal inspiration. tmpxe7fu0cj_hp_relaxed.owl Decreased forced vital capacity|Reduced FVC 2019-02-21 12:48:52+00:00 The threshold for an abnormally low FVC is defined as less than the LLN for adults or less than 80 percent of predicted for those five to 18 years of age, indicating a restrictive pattern. The LLLN (lower limit of normal) is a measurement less than the fifth percentile of spirometry data obtained from the Third National Health and Nutrition Examination Survey (NHANES III). peter owl:Class GO:0070405 biolink:NamedThing ammonium ion binding Binding to ammonium ions (NH4+). tmpxe7fu0cj_hp_relaxed.owl ammonium binding molecular_function owl:Class HP:0004527 biolink:NamedThing Large clumps of pigment irregularly distributed along hair shaft tmpxe7fu0cj_hp_relaxed.owl Large clumps of pigment irregularly distributed along hair shaft UMLS:C4025315 human_phenotype owl:Class HP:0002220 biolink:NamedThing Melanin pigment aggregation in hair shafts tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843390 owl:Class CHEBI:19168 biolink:NamedThing 17-oxo steroid Any oxo steroid carrying the oxo group at position 17. tmpxe7fu0cj_hp_relaxed.owl 17-keto steroid|17-oxosteroid|a 17-oxo steroid|17-keto steroids|17-oxo steroids|17-ketosteroids|17-ketosteroid|17-oxosteroids 0 C18H27OR 259.407 259.20619 CC12CCC3C(CCC4CCCCC34[*])C1CCC2=O chebi_ontology owl:Class HP:0007201 biolink:NamedThing Cerebral artery atherosclerosis Atherosclerosis (HP:0002621) of a cerebral artery. tmpxe7fu0cj_hp_relaxed.owl Plaque build-up in cerebral artery UMLS:C4024924 human_phenotype owl:Class HP:0030785 biolink:NamedThing Mediastinal cystic lymphangioma A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors. tmpxe7fu0cj_hp_relaxed.owl Intrathoracic cystic hygroma|Thoracic cystic lymphangioma UMLS:C4280770 owl:Class CHEBI:134179 biolink:NamedThing volatile organic compound Any organic compound having an initial boiling point less than or equal to 250 degreeC (482 degreeF) measured at a standard atmospheric pressure of 101.3 kPa. tmpxe7fu0cj_hp_relaxed.owl VOC|VOCs|volatile organic compounds Wikipedia:Volatile_organic_compound chebi_ontology owl:Class HP:0032288 biolink:NamedThing Polyclonal elevation of circulating IgG An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 22:19:07+00:00 peter owl:Class CHEBI:18211 biolink:NamedThing citrulline The parent compound of the citrulline class consisting of ornithine having a carbamoyl group at the N(5)-position. tmpxe7fu0cj_hp_relaxed.owl N(5)-(aminocarbonyl)ornithine|dl-citrulline|Cit|2-amino-5-(carbamoylamino)pentanoic acid|N(5)-carbamoylornithine|Citrulline|citrulline|citrulina|Citrullin|N(5)-(aminocarbonyl)-DL-ornithine|DL-2-amino-5-ureidovaleric acid|N(5)-carbamoyl-DL-ornithine|2-Amino-5-uredovaleric acid 0 C6H13N3O3 InChI=1S/C6H13N3O3/c7-4(5(10)11)2-1-3-9-6(8)12/h4H,1-3,7H2,(H,10,11)(H3,8,9,12) RHGKLRLOHDJJDR-UHFFFAOYSA-N 175.18584 175.09569 NC(CCCNC(N)=O)C(O)=O PMID:18989563|PMID:16708633|PMID:21482070|Wikipedia:Citrulline|PMID:17005970|Beilstein:2328251|Reaxys:1725417|Beilstein:1725417|PMID:17693747|PMID:21129371|PMID:17558653|PMID:11094453|PMID:17513438|PMID:19144577|PMID:18440672|PMID:1378088|PMID:16082501|PMID:18437289|PMID:11696417|CAS:627-77-0|PMID:11113071 CHEBI:3730|CHEBI:14002 chebi_ontology owl:Class HP:0032156 biolink:NamedThing Skin detachment Loss of sections of skin either spontaneously or after gentle handling. tmpxe7fu0cj_hp_relaxed.owl Skin sloughing|Epidermal detachment|Detached skin 2018-12-02 15:19:00+00:00 peter owl:Class GO:0019637 biolink:NamedThing organophosphate metabolic process The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. tmpxe7fu0cj_hp_relaxed.owl organophosphate metabolism biological_process owl:Class HP:0100704 biolink:NamedThing Cerebral visual impairment A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. tmpxe7fu0cj_hp_relaxed.owl Cortical blindness|CVI|Cortical visual impairment|Cortical/cerebral visual impairment UMLS:C0155320|SNOMEDCT_US:68574006|SNOMEDCT_US:413924001|UMLS:C4048268|MSH:D019575 The term cortical/cerebral visual impairment (CVI) was coined to describe damage to visual pathways and structures occurring during early perinatal development. The term cortical visual impairment was originally proposed to describe visual dysfunction in pediatric populations of non-ocular cause, and its presumed association with damage to early visual cortical areas. However, as further characterization of this condition progressed, it became evident that CVI was often associated with damage to sites beyond early visual cortex including subcortical structures, white matter pathways, as well as higher-order associative processing areas of the cortex. Thus, the word cortical has been viewed as somewhat of a misnomer, and there has been the suggestion that the term cerebral would be a more encompassing and appropriate term. Although there is still a debate in the community about the most appropriate nomenclature, the HPO will regard these terms as synonymous. It is recommended that more specific terms be used as appropriate for annotation. doelkens 2011-03-31T01:03:21Z HP:0000595 owl:Class HP:0031202 biolink:NamedThing Waxy casts A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts. tmpxe7fu0cj_hp_relaxed.owl 2017-06-27 11:08:35+00:00 peter owl:Class HP:0020138 biolink:NamedThing History of recent animal bite Medical history of a recent bite injury due to an animal. tmpxe7fu0cj_hp_relaxed.owl The spectrum of injury is broad and infectious complications, generally due to unusual pathogens, are common. robinp 2019-07-05 17:44:09+00:00 owl:Class HP:0030726 biolink:NamedThing Spinal neurenteric cyst A neurenteric cyst located in the spine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280799 owl:Class HP:0008544 biolink:NamedThing Abnormally folded helix Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1970777 owl:Class HP:0034054 biolink:NamedThing Probst bundles Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles. tmpxe7fu0cj_hp_relaxed.owl 2021-11-24 12:09:26+00:00 The formation of Probst bundles is the most common structural anomaly associated with callosal dysgenesis. peter owl:Class HP:0001403 biolink:NamedThing Macrovesicular hepatic steatosis A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. tmpxe7fu0cj_hp_relaxed.owl Macrovesicular steatosis UMLS:C1837256 human_phenotype owl:Class CHEBI:22868 biolink:NamedThing bile salt tmpxe7fu0cj_hp_relaxed.owl owl:Class CHEBI:4194 biolink:NamedThing D-hexose A hexose that has D-configuration at position 5. tmpxe7fu0cj_hp_relaxed.owl D-hexopyranose|D-Hexose|D-hexose|D-hexoses 0 C6H12O6 180.156 180.06339 KEGG:C00738 chebi_ontology owl:Class HP:3000078 biolink:NamedThing Abnormal mandible coronoid process morphology An abnormality of a mandible coronoid process. tmpxe7fu0cj_hp_relaxed.owl Abnormality of mandible coronoid process UMLS:C4073285 vasilevs 2015-08-07T03:39:24Z human_phenotype owl:Class HP:0003760 biolink:NamedThing Percussion-induced rapid rolling muscle contractions Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280804 human_phenotype owl:Class UBERON:0004203 biolink:NamedThing cortical collecting duct The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex. tmpxe7fu0cj_hp_relaxed.owl renal cortex collecting duct|kidney cortex collecting duct MA:0002600|BTO:0002643|EMAPA:28130 UBERON:0005267 uberon owl:Class PATO:0000584 biolink:NamedThing hypertrophic An increased size quality inhering in a bearer by virtue of the bearer's exhibiting enlargement of a cell or constituent group of cells (for example, organ). tmpxe7fu0cj_hp_relaxed.owl hypertrophy quality owl:Class GO:2000137 biolink:NamedThing negative regulation of cell proliferation involved in heart morphogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of cell proliferation involved in heart morphogenesis. tmpxe7fu0cj_hp_relaxed.owl dph 2010-09-29T12:43:55Z biological_process owl:Class CHEBI:33752 biolink:NamedThing hexonic acid Any aldonic acid formed by oxidising the aldehyde group of an aldohexose to a carboxylic acid group. tmpxe7fu0cj_hp_relaxed.owl hexonic acid|aldohexonic acids|hexonic acids chebi_ontology owl:Class HP:0004352 biolink:NamedThing Abnormal circulating purine concentration Any deviation from the normal concentration of a purine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating purine level UMLS:C4025346 Purines are nitrogenous bases including the two nucleotide bases deoxyadenosine and deoxyguanosine. peter 2008-03-17T01:04:00Z owl:Class HP:0000798 biolink:NamedThing Oligospermia Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. tmpxe7fu0cj_hp_relaxed.owl Low sperm count UMLS:C0028960|MSH:D009845 human_phenotype owl:Class HP:0032342 biolink:NamedThing Reduced forced expiratory volume in one second An abnormal reduction in the amount of air a person can forcefully expel in one second. tmpxe7fu0cj_hp_relaxed.owl Reduced FEV1 2019-02-21 12:54:07+00:00 peter owl:Class HP:0012216 biolink:NamedThing Entrapment neuropathy of suprascapular nerve An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region. tmpxe7fu0cj_hp_relaxed.owl Suprascapular nerve entrapment SNOMEDCT_US:230635000|UMLS:C0393890 peter 2013-03-14T08:09:05Z human_phenotype owl:Class HP:0025572 biolink:NamedThing Punctal stenosis Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded. tmpxe7fu0cj_hp_relaxed.owl Lacrimal punctum stenosis|Stenosis of the lacrimal punctum 2017-12-14 14:21:45+00:00 Epiphora is a common complaint encountered by ophthalmologists, with a broad differential diagnosis. One of the least discussed etiologies of epiphora is stenosis of the external lacrimal punctum. When it occurs, the most common presenting symptom is tearing, but patients may have vague complaints of ocular discomfort. HPO:probinson owl:Class UBERON:0002743 biolink:NamedThing basal forebrain A region of the brain consisting of ventral and rostral subcortical regions of the telencephalon, including among others, the basal ganglia, septal nuclei, amygdala, ventral pallidum, substantia innominata, and basal nucleus of Meynert. tmpxe7fu0cj_hp_relaxed.owl basal forebrain area|pars basalis telencephali BIRNLEX:1560|BTO:0002444|BAMS:Basal_forebrain|BM:Tel-BF|DHBA:10349|FMA:77700|HBA:4300|PBA:128012976|EMAPA:35164|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1997 http://upload.wikimedia.org/wikipedia/commons/a/a4/Basal_Forebrain_Monakhos_2007.png uberon owl:Class HP:0006136 biolink:NamedThing Bilateral postaxial polydactyly tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855003 human_phenotype owl:Class CHEBI:68485 biolink:NamedThing alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-D-Glcp with beta-configuration at the reducing end anomeric centre. tmpxe7fu0cj_hp_relaxed.owl Galalpha1-4Galbeta1-4Glcbeta|alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucose|alpha-D-galactopyranosyl-(1->4)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranose|Gala1-4Galb1-4Glcb|alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-D-Glc|WURCS=2.0/3,3,2/[a2122h-1b_1-5][a2112h-1b_1-5][a2112h-1a_1-5]/1-2-3/a4-b1_b4-c1 0 C18H32O16 InChI=1S/C18H32O16/c19-1-4-7(22)8(23)12(27)17(31-4)34-15-6(3-21)32-18(13(28)10(15)25)33-14-5(2-20)30-16(29)11(26)9(14)24/h4-29H,1-3H2/t4-,5-,6-,7+,8+,9-,10-,11-,12-,13-,14-,15+,16-,17-,18+/m1/s1 FYGDTMLNYKFZSV-SKWQFERISA-N 504.43710 504.16903 OC[C@H]1O[C@H](O[C@H]2[C@@H](CO)O[C@@H](O[C@@H]3[C@@H](CO)O[C@@H](O)[C@H](O)[C@H]3O)[C@H](O)[C@H]2O)[C@H](O)[C@@H](O)[C@H]1O GlyGen:G00059MO|GlyTouCan:G00059MO|PMID:19443021|PMID:31537530|PMID:25568069 chebi_ontology owl:Class CHEBI:60948 biolink:NamedThing alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-D-Glc A linear trisaccharide comprising D-glucose (at the reducing end) having an alpha-D-galactosyl-(1->4)-beta-D-galactosyl moiety at the 4-position. tmpxe7fu0cj_hp_relaxed.owl 4-O-(4-O-alpha-D-galactopyranosyl-beta-D-galactopyranosyl)-D-glucopyranose|alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-D-Glcp|Gal-alpha-1,4-Gal-beta-1,4-Glc|Pk|alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-D-glucose|Gal-alpha1,4Gal-beta1,4-Glc|Galalpha1-4Gal-beta1-4Glc|Galalpha1-4Gal-beta1-4Glc~OH|Galalpha1,4Gal-beta1,4Glc|alpha-D-galactopyranosyl-(1->4)-beta-D-galactopyranosyl-(1->4)-D-glucopyranose|(Gal)2 (Glc)1|4'-galactosyllactose|WURCS=2.0/3,3,2/[a2122h-1x_1-5][a2112h-1b_1-5][a2112h-1a_1-5]/1-2-3/a4-b1_b4-c1 0 C18H32O16 InChI=1S/C18H32O16/c19-1-4-7(22)8(23)12(27)17(31-4)34-15-6(3-21)32-18(13(28)10(15)25)33-14-5(2-20)30-16(29)11(26)9(14)24/h4-29H,1-3H2/t4-,5-,6-,7+,8+,9-,10-,11-,12-,13-,14-,15+,16?,17-,18+/m1/s1 FYGDTMLNYKFZSV-ANKSBSNASA-N 504.43710 504.16903 OC[C@H]1O[C@H](O[C@H]2[C@@H](CO)O[C@@H](O[C@@H]3[C@@H](CO)OC(O)[C@H](O)[C@H]3O)[C@H](O)[C@H]2O)[C@H](O)[C@@H](O)[C@H]1O KEGG:G03416|CAS:80446-87-3|PMID:12020649|PMID:2456994|GlyGen:G06000DZ|PMID:17991151|PMID:2292729|PMID:9538266|PMID:16133831|GlyTouCan:G06000DZ|Reaxys:5386141 chebi_ontology owl:Class CHEBI:36300 biolink:NamedThing tricarboxylic acid dianion tmpxe7fu0cj_hp_relaxed.owl tricarboxylic acid dianions chebi_ontology owl:Class CHEBI:47778 biolink:NamedThing glyceride Any ester resulting from the condensation of one or more of the hydroxy groups of glycerol (propane-1,2,3-triol) with fatty acids. tmpxe7fu0cj_hp_relaxed.owl acylglycerols|glyceride|glycerides CHEBI:13730|CHEBI:22230 chebi_ontology owl:Class CHEBI:28963 biolink:NamedThing amino sugar Any sugar having one or more alcoholic hydroxy groups replaced by substituted or unsubstituted amino groups. tmpxe7fu0cj_hp_relaxed.owl aminosugar|amino sugars|Aminosugars PMID:18424273|PMID:9056391|KEGG:C05383 CHEBI:22481|CHEBI:2662|CHEBI:22530 chebi_ontology owl:Class HP:0002655 biolink:NamedThing Spondyloepiphyseal dysplasia A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). tmpxe7fu0cj_hp_relaxed.owl Spondyloepiphyseal dysplasia tarda MSH:D010009|UMLS:C0038015 HP:0002776|HP:0005893 human_phenotype owl:Class HP:0030109 biolink:NamedThing Absent muscle fiber gamma sarcoglycan Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Absent muscle fibre gamma sarcoglycan UMLS:C4022636 owl:Class HP:0034137 biolink:NamedThing Anti-contactin-1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1. tmpxe7fu0cj_hp_relaxed.owl Anti-CNTN1 antibody positivity 2021-12-23 12:58:13+00:00 peter owl:Class HP:0032626 biolink:NamedThing Intratubular vancomycin casts Intratubular casts composed of vancomycin aggregates and uromodulin. tmpxe7fu0cj_hp_relaxed.owl The casts appear as nonspecific proteinaceous casts within the tubular lumenss on light microscopy. Immunostaining can be used to confirm the presence of vancomycin. peter owl:Class PATO:0001922 biolink:NamedThing mislocalised posteriorly A positional quality inhering in a bearer by virtue of the bearer's being positioned towards the rear of an organism. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class UBERON:0004098 biolink:NamedThing tibial plateaux tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0007321 biolink:NamedThing Deep white matter hypodensities Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter. tmpxe7fu0cj_hp_relaxed.owl Deep cerebral white matter hypodensities UMLS:C1856979 See also defintion for "Periventricular white matter hypodensities". These two entities are in contra-distinction to each other. ORCID:0000-0002-5316-1399 human_phenotype owl:Class HP:0004974 biolink:NamedThing Coarctation of abdominal aorta Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025263 human_phenotype owl:Class GO:0032870 biolink:NamedThing cellular response to hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0010666 biolink:NamedThing positive regulation of cardiac muscle cell apoptotic process Any process that increases the rate or extent of cardiac cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a cardiac muscle cell and result in its death. tmpxe7fu0cj_hp_relaxed.owl positive regulation of cardiac muscle cell apoptosis biological_process owl:Class GO:0022403 biolink:NamedThing cell cycle phase One of the distinct periods or stages into which the cell cycle is divided. Each phase is characterized by the occurrence of specific biochemical and morphological events. tmpxe7fu0cj_hp_relaxed.owl Note that this term should not be used for direct annotation. If you are trying to make an annotation to x phase, it is likely that the correct annotation is 'regulation of x/y phase transition' or to a process which occurs during the reported phase (i.e mitotic DNA replication for mitotic S-phase). To capture the phase when a specific location or process is observed, the phase term can be used in an annotation extension (PMID:24885854) applied to a cellular component term (with the relation exists_during) or a biological process term (with the relation happens_during). biological_process owl:Class HP:0010647 biolink:NamedThing Abnormal elasticity of skin Any abnormal increase or reduction in skin elasticity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023760 doelkens 2010-02-23T11:42:34Z owl:Class GO:1904753 biolink:NamedThing negative regulation of vascular associated smooth muscle cell migration Any process that stops, prevents or reduces the frequency, rate or extent of vascular associated smooth muscle cell migration. tmpxe7fu0cj_hp_relaxed.owl negative regulation of vascular smooth muscle cell migration|down regulation of vascular associated smooth muscle cell migration|downregulation of vascular smooth muscle cell migration|down-regulation of vascular associated smooth muscle cell migration|inhibition of vascular associated smooth muscle cell migration|inhibition of vascular smooth muscle cell migration|down-regulation of vascular smooth muscle cell migration|down regulation of vascular smooth muscle cell migration|downregulation of vascular associated smooth muscle cell migration rph 2015-10-19T15:49:58Z biological_process owl:Class HP:0032804 biolink:NamedThing Focal impaired awareness sensory seizure with olfactory features A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0030643 biolink:NamedThing Vitelliform-like retinal lesions tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073108 owl:Class HP:0003517 biolink:NamedThing Birth length greater than 97th percentile tmpxe7fu0cj_hp_relaxed.owl Foetal overgrowth|Fetal overgrowth UMLS:C1839271 human_phenotype owl:Class UBERON:0004520 biolink:NamedThing striated muscle tissue of prostate A portion of striated muscle tissue that is part of a prostate gland [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:45716 uberon owl:Class HP:0007182 biolink:NamedThing Peripheral hypomyelination Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024927 This finding can be demonstrated by nerve biopsy. HP:0007226|HP:0007012|HP:0007160 human_phenotype owl:Class HP:0030234 biolink:NamedThing Highly elevated creatine kinase An increased CPK level between 4X and 50X above the upper normal level. tmpxe7fu0cj_hp_relaxed.owl Highly elevated serum CK|Highly elevated serum CPK|Highly elevated serum phosph-CK|Highly elevated CPK|Highly elevated creatine phosphokinase UMLS:C4022565 owl:Class HP:0025680 biolink:NamedThing Compound muscle action potential amplitude facilitation Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction. tmpxe7fu0cj_hp_relaxed.owl CMAP facilitation peterrobinson owl:Class HP:0032727 biolink:NamedThing Focal emotional seizure with agitation Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. tmpxe7fu0cj_hp_relaxed.owl These seizures arise in mesial temporal networks, especially the amygdala. They can be distinguished from panic attacks, by the presence of impaired awareness, automatisms and other features of an epileptic seizure appearing in a stereotyped manner. They are also distinguished from a focal autonomic seizure with epigastric sensation, where the onset seizure feature is an autonomic epigastric sensation, and fear may be present as a secondary feature. peter owl:Class HP:5000044 biolink:NamedThing Anti-GluK2 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2). tmpxe7fu0cj_hp_relaxed.owl Anti-glutamate kainate receptor subunit 2 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0033584 biolink:NamedThing Nonspecific interstitial pneumonia Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa. tmpxe7fu0cj_hp_relaxed.owl Temporally uniform pulmonary inflammation|NSIP|Nonspecific interstitial pneumonitis 2021-01-27 20:40:09+00:00 peter owl:Class HP:0100209 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022212 doelkens 2010-06-24T05:03:31Z human_phenotype owl:Class HP:0004445 biolink:NamedThing Elliptocytosis The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear. tmpxe7fu0cj_hp_relaxed.owl Elliptocyte|Hereditary elliptocytosis|Ovalocytes|Ovalocytosis SNOMEDCT_US:191169008|SNOMEDCT_US:250242004|UMLS:C0427480|SNOMEDCT_US:178935009|MSH:D004612|UMLS:C0013902 Elliptocytes (ovalocytes) are abnormal erythrocytes ranging from slightly oval to elongated cigar-shaped forms. peter 2008-03-18T10:05:00Z HP:0004837 human_phenotype owl:Class MPATH:66 biolink:NamedThing dilatation Increase in the diameter of an orifice or tubular structure beyond its normal dimensions. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class CL:1000042 biolink:NamedThing forebrain neuroblast tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0030331 biolink:NamedThing Impaired stimulus-induced skin wrinkling A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022505 owl:Class HP:0007468 biolink:NamedThing Perifollicular hyperkeratosis Increased amount of keratin (visible as white scales) surrounding hair follicles. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024867 human_phenotype owl:Class HP:0004010 biolink:NamedThing Small radial epiphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025447 human_phenotype owl:Class CHEBI:5931 biolink:NamedThing insulin (human) An insulin that is produced in the pancreas and involved in regulating the metabolism of carbohydrates (particularly glucose) and fats. Commonly thought of as a protein, it consists of two peptide chains, one containing 21 amino acid residues and the other containing 30; the chains are joined together by 2 disulfide bonds. Recombinant insulin is identical to human insulin, but is synthesised by inserting the human insulin gene into E. coli, which then produces insulin for human use. It is used in the treatment of type I and type II diabetes. tmpxe7fu0cj_hp_relaxed.owl Insulin recombinant|insuline humaine|insulinum humanum|Insulin|insulin (recombinant)|Exubera|insulin human|insulina humana|human insulin 0 C257H383N65O77S6 InChI=1S/C257H383N65O77S6/c1-29-131(23)205(313-193(339)104-259)252(393)317-204(130(21)22)248(389)288-159(75-82-200(349)350)217(358)282-156(71-78-189(263)335)221(362)308-183-116-403-404-117-184-243(384)305-178(111-324)240(381)294-162(88-123(7)8)225(366)295-168(95-140-53-61-146(329)62-54-140)228(369)283-154(69-76-187(261)333)218(359)290-161(87-122(5)6)223(364)285-158(74-81-199(347)348)220(361)302-174(101-190(264)336)235(376)298-170(97-142-57-65-148(331)66-58-142)231(372)309-182(242(383)304-176(255(396)397)103-192(266)338)115-402-401-114-181(214(355)273-107-194(340)278-153(72-79-197(343)344)216(357)281-151(51-42-84-271-257(267)268)212(353)272-108-195(341)279-166(93-138-46-36-32-37-47-138)227(368)297-167(94-139-48-38-33-39-49-139)230(371)299-171(98-143-59-67-149(332)68-60-143)238(379)320-208(135(27)327)254(395)322-85-43-52-186(322)246(387)286-152(50-40-41-83-258)222(363)321-209(136(28)328)256(398)399)311-250(391)203(129(19)20)316-236(377)164(90-125(11)12)292-229(370)169(96-141-55-63-147(330)64-56-141)296-224(365)160(86-121(3)4)289-210(351)133(25)277-215(356)157(73-80-198(345)346)287-247(388)202(128(17)18)315-237(378)165(91-126(13)14)293-233(374)173(100-145-106-270-120-276-145)301-239(380)177(110-323)280-196(342)109-274-213(354)180(113-400-405-118-185(310-244(183)385)245(386)319-207(134(26)326)253(394)306-179(112-325)241(382)318-206(132(24)30-2)251(392)312-184)307-226(367)163(89-124(9)10)291-232(373)172(99-144-105-269-119-275-144)300-219(360)155(70-77-188(262)334)284-234(375)175(102-191(265)337)303-249(390)201(127(15)16)314-211(352)150(260)92-137-44-34-31-35-45-137/h31-39,44-49,53-68,105-106,119-136,150-186,201-209,323-332H,29-30,40-43,50-52,69-104,107-118,258-260H2,1-28H3,(H2,261,333)(H2,262,334)(H2,263,335)(H2,264,336)(H2,265,337)(H2,266,338)(H,269,275)(H,270,276)(H,272,353)(H,273,355)(H,274,354)(H,277,356)(H,278,340)(H,279,341)(H,280,342)(H,281,357)(H,282,358)(H,283,369)(H,284,375)(H,285,364)(H,286,387)(H,287,388)(H,288,389)(H,289,351)(H,290,359)(H,291,373)(H,292,370)(H,293,374)(H,294,381)(H,295,366)(H,296,365)(H,297,368)(H,298,376)(H,299,371)(H,300,360)(H,301,380)(H,302,361)(H,303,390)(H,304,383)(H,305,384)(H,306,394)(H,307,367)(H,308,362)(H,309,372)(H,310,385)(H,311,391)(H,312,392)(H,313,339)(H,314,352)(H,315,378)(H,316,377)(H,317,393)(H,318,382)(H,319,386)(H,320,379)(H,321,363)(H,343,344)(H,345,346)(H,347,348)(H,349,350)(H,396,397)(H,398,399)(H4,267,268,271)/t131-,132-,133-,134+,135+,136+,150-,151-,152-,153-,154-,155-,156-,157-,158-,159-,160-,161-,162-,163-,164-,165-,166-,167-,168-,169-,170-,171-,172-,173-,174-,175-,176-,177-,178-,179-,180-,181-,182-,183-,184-,185-,186-,201-,202-,203-,204-,205-,206-,207-,208-,209-/m0/s1 PBGKTOXHQIOBKM-FHFVDXKLSA-N 5807.630 5803.63765 CC[C@H](C)[C@H](NC(=O)CN)C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](CCC(N)=O)C(=O)N[C@H]1CSSC[C@@H]2NC(=O)[C@@H](NC(=O)[C@H](CO)NC(=O)[C@@H](NC(=O)[C@H](CSSC[C@H](NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CC3=CNC=N3)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@H](CC(N)=O)NC(=O)[C@@H](NC(=O)[C@@H](N)CC3=CC=CC=C3)C(C)C)C(=O)NCC(=O)N[C@@H](CO)C(=O)N[C@@H](CC3=CNC=N3)C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](C)C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CC3=CC=C(O)C=C3)C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](CSSC[C@H](NC(=O)[C@H](CC3=CC=C(O)C=C3)NC(=O)[C@H](CC(N)=O)NC(=O)[C@H](CCC(O)=O)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@H](CC3=CC=C(O)C=C3)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CO)NC2=O)C(=O)N[C@@H](CC(N)=O)C(O)=O)C(=O)NCC(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](CCCNC(N)=N)C(=O)NCC(=O)N[C@@H](CC2=CC=CC=C2)C(=O)N[C@@H](CC2=CC=CC=C2)C(=O)N[C@@H](CC2=CC=C(O)C=C2)C(=O)N[C@@H]([C@@H](C)O)C(=O)N2CCC[C@H]2C(=O)N[C@@H](CCCCN)C(=O)N[C@@H]([C@@H](C)O)C(O)=O)NC1=O)[C@@H](C)O)[C@@H](C)CC KEGG:C00723|DrugBank:DB00030|KEGG:D00085|PMID:31821343|PMID:32398693|CAS:11061-68-0|PMID:22617471|PMID:31876563|PMID:22249812|PMID:31301295|PMID:22715632|PMID:32208558|PMID:22843207|PMID:8019699|PMID:32797824|PMID:32629793 chebi_ontology owl:Class HP:0011136 biolink:NamedThing Aplasia of the sweat glands Absence of the sweat glands. tmpxe7fu0cj_hp_relaxed.owl Lack of sweat glands|Absent sweat glands UMLS:C2677485 peter 2011-06-19T02:06:44Z human_phenotype owl:Class CHEBI:35931 biolink:NamedThing delta-amino acid A non-proteinogenic amino acid in which the amino group is located on the carbon atom at the position delta to the carboxy group. tmpxe7fu0cj_hp_relaxed.owl delta-amino acids chebi_ontology owl:Class HP:0032549 biolink:NamedThing Persistent asymmetrical tonic neck reflex Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers. tmpxe7fu0cj_hp_relaxed.owl Tonic neck reflex asymmetrical and persistent|Persistent fencer's reflex 2019-06-12 10:56:12+00:00 peter owl:Class GO:0002052 biolink:NamedThing positive regulation of neuroblast proliferation Any process that activates or increases the rate of neuroblast proliferation. tmpxe7fu0cj_hp_relaxed.owl stimulation of neuroblast proliferation|up regulation of neuroblast proliferation|activation of neuroblast proliferation|up-regulation of neuroblast proliferation|upregulation of neuroblast proliferation biological_process owl:Class HP:0000394 biolink:NamedThing Lop ear Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0266614|SNOMEDCT_US:76223006 The term 'lop ear' refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears. Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal. human_phenotype owl:Class HP:0003214 biolink:NamedThing Prolonged G2 phase of cell cycle tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025639 human_phenotype owl:Class HP:0002752 biolink:NamedThing Sparse bone trabeculae tmpxe7fu0cj_hp_relaxed.owl UMLS:C1833324 human_phenotype owl:Class HP:0011845 biolink:NamedThing Short second metatarsal Short (hypoplastic) second metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Short 2nd long bone of foot UMLS:C4023162 peter 2012-05-08T07:36:00Z human_phenotype owl:Class UBERON:0004092 biolink:NamedThing hypothalamus-pituitary axis tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class CHEBI:38717 biolink:NamedThing carboxylic acid trianion A trianion containing at least one carboxy group. tmpxe7fu0cj_hp_relaxed.owl carboxylic acid trianion|carboxylic acid trianions chebi_ontology owl:Class HP:0002461 biolink:NamedThing Dense calcifications in the cerebellar dentate nucleus tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859273 human_phenotype owl:Class HP:0100321 biolink:NamedThing Abnormal dentate nucleus morphology An abnormality of the dentate nucleus. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the dentate nucleus UMLS:C4022148 doelkens 2010-08-10T03:56:48Z owl:Class HP:0040006 biolink:NamedThing Mortality/Aging tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022499 HPO:skoehler owl:Class NCBITaxon:55879 biolink:NamedThing Rhabditoidea tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0106027 biolink:NamedThing neuron projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a neuron, e.g. an axon, or a dendrite. tmpxe7fu0cj_hp_relaxed.owl hjd 2017-06-23T18:30:18Z biological_process owl:Class HP:0033532 biolink:NamedThing Decreased cardiac output A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat. tmpxe7fu0cj_hp_relaxed.owl 2021-01-15 12:56:38+00:00 peter owl:Class HP:0008399 biolink:NamedThing Circumungual hyperkeratosis A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails. tmpxe7fu0cj_hp_relaxed.owl Thick skin around nails UMLS:C4024681 human_phenotype owl:Class HP:0031351 biolink:NamedThing Calcified amorphous tumor of the heart A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue. tmpxe7fu0cj_hp_relaxed.owl Calcified amorphous tumour of the heart 2017-08-27 14:28:56+00:00 peter owl:Class GO:0003091 biolink:NamedThing renal water homeostasis tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0004657 biolink:NamedThing mandible condylar process Articular part of the mandible bone. tmpxe7fu0cj_hp_relaxed.owl mandibular condyle|mandibular condyloid process|processus condylaris|processus condylaris mandibulae|condyle of the mandible|condyle of mandible|condyloid process|condylar process of mandible MA:0002816|EMAPA:36572|BTO:0001750|FMA:52836|MESH:D008335|MFMO:0000056|GAID:219 http://upload.wikimedia.org/wikipedia/commons/b/b1/Processuscondylarismandibulae.PNG uberon owl:Class HP:0200143 biolink:NamedThing Megaloblastic erythroid hyperplasia tmpxe7fu0cj_hp_relaxed.owl Bone marrow biopsy shows megaloblastic erythroid hyperplasia UMLS:C1850020|UMLS:C1334688 sebastiankohler 2013-06-13T12:44:34Z human_phenotype owl:Class CHEBI:22221 biolink:NamedThing acyl group An organic group formed by removing one or more hydroxy groups from an oxoacid that has the general structure RkE(=O)l(OH)m (l =/= 0). Although the term is almost always applied to organic compounds, with carboxylic acid as the oxoacid, acyl groups can in principle be derived from other types of acids such as sulfonic acids or phosphonic acids. tmpxe7fu0cj_hp_relaxed.owl acyl groups|alkanoyl group|groupe acyle|acyl group|alkanoyl chebi_ontology owl:Class HP:0032486 biolink:NamedThing Elevated fecal osmolality Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram. tmpxe7fu0cj_hp_relaxed.owl Elevated faecal osmolality 2019-04-11 11:41:54+00:00 peter owl:Class CHEBI:47773 biolink:NamedThing very-low-density lipoprotein cholesterol Cholesterol esters and free cholesterol which are contained in or bound to very low density lipoproteins (VLDL). tmpxe7fu0cj_hp_relaxed.owl pre-beta-lipoprotein cholesterol|VLDL-C|VLDL cholesterol chebi_ontology owl:Class CHEBI:50404 biolink:NamedThing lipoprotein cholesterol Cholesterol esters and free cholesterol which are contained in or bound to lipoproteins. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0031734 biolink:NamedThing Lacrimal pump failure A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 13:36:29+00:00 peter owl:Class HP:0030876 biolink:NamedThing Increased pulmonary capillary wedge pressure Pulmonary capillary wedge pressure (PCWP) above 15mmHg. tmpxe7fu0cj_hp_relaxed.owl Increased pulmonary artery occlusion pressure|Increased pulmonary arterial wedge pressure UMLS:C0520850|SNOMEDCT_US:30261008 The pulmonary capillary wedge pressure refers to the pressure measured by wedging a pulmonary catheter with an inflated balloon into a small pulmonary arterial branch. owl:Class GO:0006570 biolink:NamedThing tyrosine metabolic process The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. tmpxe7fu0cj_hp_relaxed.owl tyrosine metabolism UM-BBD_pathwayID:tyr|Wikipedia:Tyrosine biological_process owl:Class HP:0001445 biolink:NamedThing Abnormality of the hip-girdle musculature tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025780 peter 2008-04-07T10:31:00Z human_phenotype owl:Class HP:0025310 biolink:NamedThing Oval pupil An abnormal pupil shape that is elliptical, i.e., egg-like. tmpxe7fu0cj_hp_relaxed.owl 2016-12-21 01:11:31+00:00 HPO:probinson owl:Class HP:0030707 biolink:NamedThing Unilateral lung agenesis Lack of development of one lung. tmpxe7fu0cj_hp_relaxed.owl Unilateral pulmonary agenesis UMLS:C4082952|MSH:C562992 owl:Class PATO:0000642 biolink:NamedThing fused with A structural quality inhering in a bearer by virtue of the bearer's being merged with another entity. tmpxe7fu0cj_hp_relaxed.owl coalesced|merged with|fused|fused to|joined with quality owl:Class HP:0030887 biolink:NamedThing Increased lymphocyte apoptosis A elevation in the rate of apoptosis in lymphocytes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280724 owl:Class HP:0030886 biolink:NamedThing Abnormal lymphocyte apoptosis A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280725 owl:Class HP:0032676 biolink:NamedThing Chronic cutaneous wound A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result. tmpxe7fu0cj_hp_relaxed.owl Chronic nonhealing cutaneous wound peter owl:Class CHEBI:35526 biolink:NamedThing hypoglycemic agent A drug which lowers the blood glucose level. tmpxe7fu0cj_hp_relaxed.owl antihyperglycemic agents|antihyperglycemics|antihyperglycemic drug|hypoglycemic drugs|hypoglycemic agents|antihyperglycemic drugs|hypoglycemic drug|antihyperglycemic|antidiabetic|antihyperglycemic agent chebi_ontology owl:Class GO:0051152 biolink:NamedThing positive regulation of smooth muscle cell differentiation Any process that activates or increases the frequency, rate or extent of smooth muscle cell differentiation. tmpxe7fu0cj_hp_relaxed.owl stimulation of smooth muscle cell differentiation|up-regulation of smooth muscle cell differentiation|upregulation of smooth muscle cell differentiation|activation of smooth muscle cell differentiation|up regulation of smooth muscle cell differentiation biological_process owl:Class NCBITaxon:10088 biolink:NamedThing Mus tmpxe7fu0cj_hp_relaxed.owl Mus|mouse|mice GC_ID:1 ncbi_taxonomy owl:Class GO:0032059 biolink:NamedThing bleb A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. tmpxe7fu0cj_hp_relaxed.owl plasma membrane bleb Wikipedia:Bleb_(cell_biology) cellular_component owl:Class HP:0004573 biolink:NamedThing Anterior wedging of T11 An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front). tmpxe7fu0cj_hp_relaxed.owl Wedge-shaped 11th thoracic vertebra|Anterior wedging of the 11th thoracic vertebra UMLS:C4021652 human_phenotype owl:Class UBERON:0004715 biolink:NamedThing annulus fibrosus disci intervertebralis The ring of fibrocartilage and fibrous tissue forming the circumference of the intervertebral disc; surrounds the nucleus pulposus, which is prone to herniation when the annulus fibrosus is compromised. tmpxe7fu0cj_hp_relaxed.owl anulus fibrosus (diskus intervertebralis)|annulus fibrosus|fibrous ring of intervertebral disc|annulus fibrosus of intervertebral disc|anulus fibrosus of intervertebral disk BTO:0003629|EMAPA:32670|MA:0000111|FMA:13551 http://upload.wikimedia.org/wikipedia/commons/d/d9/Cervical_vertebra_english.png uberon owl:Class HP:0007913 biolink:NamedThing Reticular retinal dystrophy A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024776 human_phenotype owl:Class HP:0032188 biolink:NamedThing Cellular hypersensitivity to mitomycin C An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. tmpxe7fu0cj_hp_relaxed.owl 2019-01-15 11:19:21+00:00 Cellular hypersensitivity to mitomycin C is used in diagnostic criteria for Fanconi Anemia. peter owl:Class HP:0006302 biolink:NamedThing Dagger-shaped pulp calcifications Dagger-shaped calcifications in the dental pulp. tmpxe7fu0cj_hp_relaxed.owl Dagger shaped pulp denticles|Dagger shaped pulp stones UMLS:C4025067 owl:Class HP:0003771 biolink:NamedThing Pulp calcification Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies. tmpxe7fu0cj_hp_relaxed.owl Pulp denticles|Pulp stones|False pulp stones|Pulp calcifications|True denticles|False denticles|True pulp stones|Pulpoliths UMLS:C4280546|SNOMEDCT_US:57602001|UMLS:C4280259|MSH:D003784|UMLS:C1527284 owl:Class HP:0007613 biolink:NamedThing Spinous keratoses of palms and soles tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024830 human_phenotype owl:Class HP:0034094 biolink:NamedThing Anti-angiotensin receptor type-1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1. tmpxe7fu0cj_hp_relaxed.owl Anti-AT1R antibody positivity 2021-12-19 02:44:43+00:00 peter owl:Class HP:0005359 biolink:NamedThing Aplasia of the thymus Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. tmpxe7fu0cj_hp_relaxed.owl Absent thymic shadow|Absent thymus|Lack of thymic shadow|Athymia UMLS:C0685894|SNOMEDCT_US:91918005|MSH:C536288|SNOMEDCT_US:702623002 human_phenotype owl:Class HP:0031929 biolink:NamedThing Perivascular pseudorosette A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel. tmpxe7fu0cj_hp_relaxed.owl 2018-07-04 13:30:24+00:00 The modifier pseudo differentiates this pattern from the Homer Wright and Flexner-Wintersteiner rosettes, perhaps because the central structure is not actually formed by the tumor itself, but instead represents a native, non-neoplastic element. Also, some early investigators argued about the definition of a central lumen, choosing pseudo to indicate that the hub was not a true lumen but contained structures. Nevertheless, this pattern remains extremely diagnostically useful and the modifier unnecessarily leads to confusion. Perivascular pseudorosettes are encountered in most ependymomas regardless of grade or variant. peter owl:Class HP:0003867 biolink:NamedThing Humeral cortical irregularity tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025543 human_phenotype owl:Class PATO:0001977 biolink:NamedThing angular A shape quality inhering in a bearer by virtue of the bearer's having at least one salient angle on the margin. tmpxe7fu0cj_hp_relaxed.owl angulate quality owl:Class HP:0009748 biolink:NamedThing Large earlobe Increased volume of the earlobe, that is, abnormally prominent ear lobules. tmpxe7fu0cj_hp_relaxed.owl Large earlobe|Prominent ear lobes|Fleshy earlobes|Fleshy earlobe|prominent ear lobules UMLS:C1844573 All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. Lobe size increases throughout adulthood. peter 2009-01-31T04:02:42Z HP:0004456|HP:0004449 owl:Class UBERON:0003907 biolink:NamedThing left atrioventricular canal An atrioventricular canal that is in the left side of a atrioventricular region. tmpxe7fu0cj_hp_relaxed.owl left atrio-ventricular canal|left AVC EHDAA2:0000935|FMA:71123|EHDAA:5336 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern EHDAA2 represents lumen HP:0033210 biolink:NamedThing Congenital alveolar dysplasia Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries. tmpxe7fu0cj_hp_relaxed.owl 2020-10-12 11:35:45+00:00 peter owl:Class GO:0090132 biolink:NamedThing epithelium migration The process in which the population of cells that make up an epithelium undergo directed movement. tmpxe7fu0cj_hp_relaxed.owl tb 2009-12-07T03:19:34Z biological_process owl:Class GO:0090130 biolink:NamedThing tissue migration The process in which the population of cells that make up a tissue undergo directed movement. tmpxe7fu0cj_hp_relaxed.owl tb 2009-12-07T03:13:55Z biological_process owl:Class HP:0012781 biolink:NamedThing Mid-frequency hearing loss A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022723 peter 2014-04-08T11:04:07Z human_phenotype owl:Class HP:0012224 biolink:NamedThing Circulating immune complexes Persistence of immune complexes in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3887628 Immune complexes are formed of interlocking antigens and antibodies and are normally are rapidly removed from the bloodstream by macrophages in the spleen and Kupffer cells in the liver. If they persist abnormally in the circulation, they may become trapped in various tissues and induce inflammatory reactions. peter 2013-03-30T07:27:21Z human_phenotype owl:Class HP:0005368 biolink:NamedThing Abnormality of humoral immunity An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. tmpxe7fu0cj_hp_relaxed.owl Defective humoral immunity UMLS:C3150510 human_phenotype owl:Class HP:0010534 biolink:NamedThing Transient global amnesia A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information. tmpxe7fu0cj_hp_relaxed.owl MSH:D020236|SNOMEDCT_US:230736007|UMLS:C0338591 peter 2009-09-20T09:33:50Z owl:Class HP:0033976 biolink:NamedThing Volar fingernail The presence of an extra nail on the palmar (volar, ventral) surface of the finger. tmpxe7fu0cj_hp_relaxed.owl Ventral fingernail|Palmar fingernail 2021-06-25 14:01:35+00:00 peter owl:Class HP:0032078 biolink:NamedThing Angel-shaped phalanx A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head). tmpxe7fu0cj_hp_relaxed.owl 2018-10-14 13:49:41+00:00 In some cases an ASP can grow into an inconspicuous brachydactyly after physeal closure. peter owl:Class HP:0008116 biolink:NamedThing Flexion limitation of toes Limitation of the ability to bend the toes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024731 human_phenotype owl:Class HP:0025466 biolink:NamedThing Beta 2-microglobulinuria Increased level of beta 2-microglobulins in the urine. tmpxe7fu0cj_hp_relaxed.owl 2017-05-07 11:50:10+00:00 HPO:probinson owl:Class HP:0004046 biolink:NamedThing Spurred ulnar metaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025418 human_phenotype owl:Class HP:0011292 biolink:NamedThing EEG with occipital sharp waves EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2206521 peter 2012-02-11T12:31:29Z human_phenotype owl:Class HP:0011196 biolink:NamedThing EEG with focal sharp waves EEG with focal sharp transient waves of a duration between 80 and 200 msec. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023478 hecht 2011-11-19T11:11:50Z human_phenotype owl:Class HP:0011570 biolink:NamedThing Congenital mitral stenosis Mitral stenosis with congenital onset. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:82458004|UMLS:C0158618 peter 2012-04-08T08:46:46Z owl:Class HP:0001718 biolink:NamedThing Mitral stenosis An abnormal narrowing of the orifice of the mitral valve. tmpxe7fu0cj_hp_relaxed.owl Mitral valve stenosis UMLS:C0026269|Fyler:1511|MSH:D008946|SNOMEDCT_US:79619009|EPCC:06.02.92|ICD-10:Q23.2 HP:0005163 owl:Class HP:0008119 biolink:NamedThing Deformed tarsal bones tmpxe7fu0cj_hp_relaxed.owl Deformed ankle bones UMLS:C1856746 human_phenotype owl:Class HP:0006729 biolink:NamedThing Retroperitoneal chemodectomas tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024987|NCIT:C3308 human_phenotype owl:Class HP:0025379 biolink:NamedThing Anti-thyroid peroxidase antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. tmpxe7fu0cj_hp_relaxed.owl 2017-04-20 10:42:32+00:00 Thyroid peroxidase (TPO) antibody positivity is found in most patients with chronic lymphocytic thyroiditis (Hashimoto disease) and over half of patients with Graves disease. HPO:probinson owl:Class HP:0030257 biolink:NamedThing Freckled genitalia One or more brown punctate macules on the skin of the genitalia. tmpxe7fu0cj_hp_relaxed.owl Genitalia, ephelides|Freckled genitalia UMLS:C4021040 This should be differentiated from Hyperpigmented genitalia in which an area larger than a freckle or the complete external genitalia are hyperpigmented. The description should be qualified by a description of the affected part(s). owl:Class HP:0007501 biolink:NamedThing Streaks of hyperkeratosis along each finger onto the palm tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024861 human_phenotype owl:Class HP:0012748 biolink:NamedThing Focal T2 hyperintense brainstem lesion A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022748 peter 2014-03-30T06:43:06Z human_phenotype owl:Class CHEBI:25107 biolink:NamedThing magnesium atom tmpxe7fu0cj_hp_relaxed.owl Magnesium|12Mg|Mg|magnesium|magnesio 0 Mg InChI=1S/Mg FYYHWMGAXLPEAU-UHFFFAOYSA-N 24.30500 23.98504 [Mg] KEGG:C00305|Gmelin:16207|CAS:7439-95-4|DrugBank:DB01378|WebElements:Mg chebi_ontology owl:Class HP:0031557 biolink:NamedThing Reduced fibroblast CD55 level Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 23:23:25+00:00 peter owl:Class UBERON:0000443 biolink:NamedThing left testicular vein A vein that drains the right pampiniform plexus and empties into the inferior vena cava. tmpxe7fu0cj_hp_relaxed.owl left spermatic vein|vena testicularis dextra|vena testicularis sinistra BTO:0002680|FMA:14345|EMAPA:37167|NCIT:C52696|MA:0002219 uberon owl:Class PR:000007857 biolink:NamedThing erythroid transcription factor A protein that is a translation product of the human GATA1 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl GATA1|Eryf1|GATA-1|ERYF1|NF-E1 DNA-binding protein|GF-1|GATA-binding factor 1|GF1 Category=gene. Requested by=CL. protein owl:Class HP:0020101 biolink:NamedThing Invasive fungal infection Fungal infection characterized by invasion of host tissues. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 19:11:15+00:00 Invasive fungal infections are a significant health problem in immunocompromised patients. Major risk factors for IFI include neutropenia less than 500 neutrophils/ml for more than 10 days, haematological malignancies, bone marrow transplantation, prolonged (over 4 wk) treatment with corticosteroids; prolonged (over 7 days) stays in intensive care, chemotherapy, HIV infection, invasive medical procedures, and the newer immune suppressive agents. robinp owl:Class UBERON:0010135 biolink:NamedThing sensory circumventricular organ A circumventricular organ that is capable of monitoring the levels of substances to the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl sensory circumventricular organs|sensitive organs|humerosensory system organ|humerosensory circumventricular organ|sensitive circumventricular organs|humerosensory system|sensory CVOs EMAPA:37741|MA:0002944 uberon owl:Class HP:0100414 biolink:NamedThing Complete duplication of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the innermost 4th toe bone UMLS:C4022104 human_phenotype owl:Class HP:0034109 biolink:NamedThing Anti-GW182 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 15:12:49+00:00 peter owl:Class HP:0032431 biolink:NamedThing Decreased HDL3b concentration A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:51:15+00:00 peter owl:Class HP:0030660 biolink:NamedThing Furcate cord insertion Branching of the umbilical cord before its insertion into the placenta. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073116 UToronto:chum owl:Class HP:0009519 biolink:NamedThing Ivory epiphysis of the middle phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the middle bone of the index finger UMLS:C4024314 doelkens 2009-01-16T01:12:17Z human_phenotype owl:Class GO:2000035 biolink:NamedThing regulation of stem cell division Any process that modulates the frequency, rate or extent of stem cell division. tmpxe7fu0cj_hp_relaxed.owl regulation of stem cell renewal tb 2010-08-05T11:34:53Z biological_process owl:Class HP:4000007 biolink:NamedThing Bronchoconstriction Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath. tmpxe7fu0cj_hp_relaxed.owl Constriction of the bronchi|Bronchial constriction 2021-04-25 23:21:45+00:00 robinp owl:Class HP:0030722 biolink:NamedThing Ectopic liver Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0431603|SNOMEDCT_US:253813000 Ectopic liver tissue can occur in several different organs, but the gallbladder is the commonest site of origin. owl:Class HP:0012729 biolink:NamedThing Saccular descending thoracic aortic aneurysm An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall tmpxe7fu0cj_hp_relaxed.owl Dilatation of the saccular descending thoracic aorta UMLS:C4022752 Aneurysm is considered a severe form of dilatation. peter 2014-03-23T02:27:11Z human_phenotype owl:Class MPATH:675 biolink:NamedThing psoriasiform dermatitis tmpxe7fu0cj_hp_relaxed.owl George Gkoutos 2011-02-19T04:09:12Z mouse_pathology.ontology owl:Class MPATH:196 biolink:NamedThing dermatitis Inflammation of the skin. tmpxe7fu0cj_hp_relaxed.owl George Gkoutos mouse_pathology.ontology owl:Class HP:0100573 biolink:NamedThing Muscular cardiac diverticulum tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022021 doelkens 2010-12-21T05:14:00Z human_phenotype owl:Class HP:0002516 biolink:NamedThing Increased intracranial pressure An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Intracranial hypertension|Intracranial pressure elevation|Rise in pressure inside skull SNOMEDCT_US:271719001|MSH:D019586|UMLS:C0151740 Normal values of intracranial pressure in adults are around 7-15 mm Hg in the supine position. The term pseudotumor cerebri (also: idiopathic intracranial hypertension or benign intracranial hypertension) is the presence of increased intracranial pressure in the absence of a brain tumor or other identifiable cause. It should be coded using this term and negations of appropriate other HPO terms. Increased intracranial pressure can damage tissue, contribute to hydrocephalus, cause brain herniation, and restrict blood supply to the brain. human_phenotype owl:Class HP:0031330 biolink:NamedThing Perivascular myocardial immune cell infiltration An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 12:41:40+00:00 peter owl:Class HP:0030254 biolink:NamedThing Nail bed hemorrhage Small areas of bleeding (hemorrhage) under the fingernail or toenail. tmpxe7fu0cj_hp_relaxed.owl Nail bed haemorrhage UMLS:C0877087 owl:Class HP:0033524 biolink:NamedThing Abnormal sperm axoneme morphology Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC. tmpxe7fu0cj_hp_relaxed.owl 2021-01-14 13:25:38+00:00 peter owl:Class HP:5000028 biolink:NamedThing Anti-MAP1B antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B). tmpxe7fu0cj_hp_relaxed.owl Anti-microtubule-associated protein 1B antibody|Anti-Purkinje cell cytoplasmic type-2 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0100611 biolink:NamedThing Multiple glomerular cysts The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. tmpxe7fu0cj_hp_relaxed.owl Glomerulocystic kidney disease UMLS:C4020705|UMLS:C4022013 Glomerular cysts, defined as Bowman space dilatation greater than 2 to 3 times normal size, are found in disorders of diverse etiology and with a spectrum of clinical manifestations. The term glomerulocystic kidney refers to a kidney with greater than 5% cystic glomeruli. doelkens 2010-12-28T10:23:07Z human_phenotype owl:Class HP:0410338 biolink:NamedThing Plant product allergy Hypersensitivity in form of an adverse immune reaction against plant products. tmpxe7fu0cj_hp_relaxed.owl Plant product allergy|Allergy to plant products|Immunoglobulin E-mediated plant product allergy|IgE-mediated plant product allergy owl:Class HP:0000997 biolink:NamedThing Axillary freckling The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1860335 human_phenotype owl:Class MAXO:0010203 biolink:NamedThing echocardiography The use of ultrasound to produce images of structures in the heart. tmpxe7fu0cj_hp_relaxed.owl sonography of heart|heart ultrasound procedure|heart ultrasound examination|heart diagnostic sonography|heart ultrasound imaging procedure|ultrasonography of heart|heart sonography|heart medical ultrasound 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-2961 owl:Class HP:0000531 biolink:NamedThing Corneal crystals tmpxe7fu0cj_hp_relaxed.owl Corneal deposits UMLS:C1096610 human_phenotype owl:Class UBERON:0015214 biolink:NamedThing arcuate ligament A ligament that is part of a diaphragm. tmpxe7fu0cj_hp_relaxed.owl FMA:58280|EMAPA:19236 uberon owl:Class HP:0030249 biolink:NamedThing Enanthema A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0014034|SNOMEDCT_US:5862001 owl:Class HP:0031156 biolink:NamedThing Decreased platelet glycoprotein Ib Decreased platelet cell membrane concentration of glycoprotein Ib. tmpxe7fu0cj_hp_relaxed.owl 2017-06-18 13:22:56+00:00 peter owl:Class GO:0032994 biolink:NamedThing protein-lipid complex A macromolecular complex containing separate protein and lipid molecules. Separate in this context means not covalently bound to each other. tmpxe7fu0cj_hp_relaxed.owl Macromolecular complexes in which the lipid component is all covalently bound to protein are not considered protein-lipid complexes. cellular_component owl:Class HP:0002254 biolink:NamedThing Intermittent diarrhea Repeated episodes of diarrhea separated by periods without diarrhea. tmpxe7fu0cj_hp_relaxed.owl Intermittent diarrhoea|Episodic diarrhea|Episodic diarrhoea UMLS:C0239181 owl:Class HP:0020072 biolink:NamedThing Persistent EBV viremia Persistent presence of Epstein-Barr virus in the blood. tmpxe7fu0cj_hp_relaxed.owl 2019-01-21 22:36:17+00:00 Primary EBV infection is often asymptomatic in the immunocompetent host. In immunodeficient patients, however, primary EBV infection or secondary reactivation may result in persistent symptomatic EBV viremia, a clinical condition with a prolonged (over 6 months) and distinct symptomatic phase with fever, lymphadenophathy and several other possible features such as hepatitis and pneumonia. Persistent symptomatic EBV viremia can be associated with lymphoma, lymphoproliferative disease, hemophagocyticlymphohistiocytosis (HLH) and aplastic anemia, but most typically goes into spontaneous remission. robinp owl:Class HP:0033452 biolink:NamedThing Decreased circulating prealbumin concentration A reduction from the normal concentration of prealbumin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 20:45:53+00:00 peter owl:Class HP:0033517 biolink:NamedThing Heroin addiction Addiction to heroin. tmpxe7fu0cj_hp_relaxed.owl Heroin dependence 2021-01-13 12:32:37+00:00 peter owl:Class HP:0410297 biolink:NamedThing Partial absence of specific antibody response to tetanus vaccine A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 22:02:45+00:00 owl:Class HP:0012017 biolink:NamedThing EEG with parietal focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023074 hecht 2012-07-20T12:02:43Z human_phenotype owl:Class HP:0100382 biolink:NamedThing Aplasia of the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Absent middle bone of 4th toe UMLS:C4022111 human_phenotype owl:Class CHEBI:63534 biolink:NamedThing monoamine An aralylamino compound which contains one amino group connected to an aromatic ring by a two-carbon chain. Monoamines are derived from aromatic amino acids like phenylalanine, tyrosine, tryptophan, and the thyroid hormones by the action of aromatic amino acid decarboxylase enzymes. tmpxe7fu0cj_hp_relaxed.owl monoamines|naturally occurring monoamine|naturally occurring monoamines PMID:22005599|PMID:21822758|PMID:22371656|PMID:22218931|PMID:22342987|PMID:22213370|PMID:22153577|PMID:22082101|PMID:21993877 chebi_ontology owl:Class HP:0009806 biolink:NamedThing Nephrogenic diabetes insipidus A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:111395007|UMLS:C0162283|MSH:D018500 peter 2009-02-16T11:23:28Z human_phenotype owl:Class HP:0025229 biolink:NamedThing Triggered by vestibular stimulation Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair. tmpxe7fu0cj_hp_relaxed.owl Vestibular stimulation triggered symptoms|Vestibular stimulation triggered attacks 2016-12-10 14:30:38+00:00 HPO:probinson owl:Class MPATH:607 biolink:NamedThing healing and repair structure Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0001134 biolink:NamedThing Anterior polar cataract A polar cataract that affects the anterior pole of the lens. tmpxe7fu0cj_hp_relaxed.owl Polar cataract, anterior MSH:C538282|UMLS:C1855179 human_phenotype owl:Class HP:0011826 biolink:NamedThing Philtrum with midline raphe Narrow ridge in the midline of the philtral groove. tmpxe7fu0cj_hp_relaxed.owl Philtrum with central raphe|Philtrum, midline raphe|Philtrum with midline ridge UMLS:C4021118 The ridge may be very subtly elevated. peter 2012-05-01T10:33:46Z human_phenotype owl:Class HP:0004789 biolink:NamedThing Lactose intolerance An inability to digest lactose. tmpxe7fu0cj_hp_relaxed.owl Milk intolerance|Lactose intolerance SNOMEDCT_US:700094005|UMLS:C0022951|MSH:D007787|SNOMEDCT_US:267425008 human_phenotype owl:Class HP:0002723 biolink:NamedThing Absence of bactericidal oxidative respiratory burst in phagocytes An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844385 human_phenotype owl:Class HP:0010256 biolink:NamedThing Triangular epiphyses of the distal phalanges of the hand tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the outermost hand bones UMLS:C4023944 doelkens 2009-07-06T04:23:06Z human_phenotype owl:Class HP:0012460 biolink:NamedThing Dysmorphic inferior cerebellar vermis A structural anomaly of the inferior portion of the vermis of cerebellum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022893 peter 2013-11-24T11:59:06Z owl:Class HP:0100898 biolink:NamedThing Connective tissue nevi Connective tissue nevi are hamartomas in which one or several components of the dermis is altered. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0334083|SNOMEDCT_US:22858003|SNOMEDCT_US:400091006|MSH:C562737 Lesions in which collagen predominates are called collagenomas; lesions in which elastin predominates are called elastomas. A nevus mucinosis is a lesion in which an alteration in the amount of dermal glycosaminoglycan is present. The name nevus mucinosis is also used for lesions in which an alteration in more than one dermal component is present. Connective tissue nevi may be solitary or multiple, sporadic or inherited. They may occur as isolated skin lesions, or they may be associated with a number of syndromes. doelkens 2011-12-01T05:39:30Z human_phenotype owl:Class UBERON:0013168 biolink:NamedThing thyroepiglottic ligament Laryngeal ligament that connects the epiglottis to the thyroid cartilage[WP,modified]. tmpxe7fu0cj_hp_relaxed.owl thyroepiglottic ligament|ligamentum thyroepiglotticum FMA:55230|NCIT:C33777|UMLS:C0225514 uberon owl:Class CHEBI:37793 biolink:NamedThing amino sulfonic acid An organosulfonic acid containing one or more amino groups. tmpxe7fu0cj_hp_relaxed.owl aminosulfonic acids|aminosulfonic acid|amino sulfonic acids chebi_ontology owl:Class HP:0200048 biolink:NamedThing Cyanotic episode tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:301795004|UMLS:C0578475 sebastiankohler 2011-02-02T02:03:18Z human_phenotype owl:Class HP:0000897 biolink:NamedThing Rachitic rosary A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:15214001|SNOMEDCT_US:249702007 Nutritional rickets (NR), secondary to vitamin D deficiency and/or dietary calcium deficiency, is characterized by a range of features including 1) hypocalcemic seizures and tetanic spasms; 2) life-threatening hypocalcemic cardiomyopathy; 3) bone pain and muscle weakness; 4) limb and pelvic deformities; 5) failure to thrive; 6) developmental delay; and 7) dental anomalies. Rickets can additionally be caused by genetic defects such as a defect in the vitamin D receptor gene. owl:Class HP:0025344 biolink:NamedThing Interlobular bile duct destruction Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). tmpxe7fu0cj_hp_relaxed.owl 2017-02-12 13:44:46+00:00 In primary biliary cirrhosis, interlobular bile duct destruction is immune mediated. HPO:probinson owl:Class HP:0009556 biolink:NamedThing Absent tibia Absence of the tibia. tmpxe7fu0cj_hp_relaxed.owl Absent shinbone|Absent shankbone|Aplasia of the tibia UMLS:C3276744 peter 2009-01-27T06:09:44Z human_phenotype owl:Class HP:0012030 biolink:NamedThing Increased urinary cortisol level Abnormally increased concentration of cortisol in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine cortisol level UMLS:C4023068 peter 2012-07-27T01:30:44Z human_phenotype owl:Class HP:0032776 biolink:NamedThing Focal aware autonomic seizure with lacrimation tmpxe7fu0cj_hp_relaxed.owl A focal autonomic seizure with lacrimation characterized by retained awareness throughout the seizure. peter owl:Class CL:0000036 biolink:NamedThing epithelial fate stem cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:4000029 biolink:NamedThing Antigliadin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin. tmpxe7fu0cj_hp_relaxed.owl AGA autoantibodies 2021-05-02 14:57:22+00:00 robinp owl:Class HP:0000767 biolink:NamedThing Pectus excavatum A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. tmpxe7fu0cj_hp_relaxed.owl Funnel chest UMLS:C2051831|SNOMEDCT_US:391987005 HP:0006613|HP:0006617 human_phenotype owl:Class UBERON:0004401 biolink:NamedThing bone tissue of distal epiphysis A portion of bone tissue that is part of a distal epiphysis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:241374 uberon owl:Class PR:P01350 biolink:NamedThing gastrin (human) A gastrin that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl GAS|hGAST|GAST UniProtKB:P01350 Category=organism-gene. protein owl:Class HP:0007105 biolink:NamedThing Infantile encephalopathy Encephalopathy with onset in the infantile period. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856408 HP:0007309|HP:0007353|HP:0006948 human_phenotype owl:Class CL:2000001 biolink:NamedThing peripheral blood mononuclear cell A leukocyte with a single non-segmented nucleus in the mature form found in the circulatory pool of blood. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-02-11T17:29:04Z cell owl:Class HP:0031855 biolink:NamedThing Right isomerism A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures. tmpxe7fu0cj_hp_relaxed.owl Right-sided isomerism 2018-05-05 18:15:09+00:00 peter owl:Class CL:0002599 biolink:NamedThing smooth muscle cell of the esophagus A smooth muscle cell of the esophagus. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-03-06T05:48:17Z cell owl:Class HP:0031230 biolink:NamedThing Decreased incisura length The length of the incisura from the upper to lower border is less than that observed in the average population. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 13:00:15+00:00 peter owl:Class HP:0200105 biolink:NamedThing Absent fifth toenail tmpxe7fu0cj_hp_relaxed.owl Absent fifth toenail|Missing fifth toenail UMLS:C4021892 sebastiankohler 2013-06-05T12:11:38Z human_phenotype owl:Class HP:0009657 biolink:NamedThing Triangular shaped thumb phalanx Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped thumb bone|Triangular thumb phalanges|Triangular shaped phalanges of the thumb UMLS:C4021412 A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above). doelkens 2009-01-29T05:29:26Z HP:0004072 human_phenotype owl:Class HP:0011371 biolink:NamedThing Recurrent viral skin infections Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections. tmpxe7fu0cj_hp_relaxed.owl Recurrent viral skin infections UMLS:C4023393 peter 2012-03-03T10:36:20Z human_phenotype owl:Class HP:0410268 biolink:NamedThing Spleen hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen. tmpxe7fu0cj_hp_relaxed.owl Splenic hemangioma 2018-10-30 01:57:13+00:00 owl:Class UBERON:0005695 biolink:NamedThing manual digit 5 mesenchyme Mesenchyme that is part of a developing manual digit 5. tmpxe7fu0cj_hp_relaxed.owl manual digit V mesenchyme|fore limb digit 5 mesenchyme|hand digit 5 mesenchyme EHDAA2:0000537|EMAPA:17443 uberon owl:Class HP:0001140 biolink:NamedThing Limbal dermoid A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). tmpxe7fu0cj_hp_relaxed.owl Benign eye tumour|Epibulbar dermoids|Benign eye tumor|Epibulbar dermoid SNOMEDCT_US:5131000119107|SNOMEDCT_US:92097004|UMLS:C1867616|UMLS:C0496897 human_phenotype owl:Class HP:0025375 biolink:NamedThing Orthotopic os odontoideum Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus. tmpxe7fu0cj_hp_relaxed.owl 2017-04-08 13:10:36+00:00 HPO:probinson owl:Class HP:0008756 biolink:NamedThing Bowing of the vocal cords Bowing (abnormal curvature) of the vocal folds. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:232448002|UMLS:C0396064 human_phenotype owl:Class HP:0008593 biolink:NamedThing Prominent antitragus Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. tmpxe7fu0cj_hp_relaxed.owl Hypertrophic antitragus|Hyperplastic antitragus|Enlarged antitragus UMLS:C1968811 human_phenotype owl:Class HP:0009896 biolink:NamedThing Abnormal antitragus morphology An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024167 peter 2009-04-30T10:13:21Z owl:Class HP:0100676 biolink:NamedThing Vaginal lymphocele tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021999 "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. doelkens 2010-12-30T01:36:39Z human_phenotype owl:Class HP:0033262 biolink:NamedThing Transphyseal fracture of the distal humerus A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis. tmpxe7fu0cj_hp_relaxed.owl Transphyseal distal humerus fracture 2020-11-28 15:04:25+00:00 Transphyseal fractures of the distal humerus typically occur in children younger than 3 years secondary to birth trauma, nonaccidental trauma, or a fall from a small height. peter owl:Class HP:0041055 biolink:NamedThing Fractured humerus A partial or complete breakage of the humerus. tmpxe7fu0cj_hp_relaxed.owl Fracture of the humerus|bone humerus|Broken humerus|Humeral fracture|Humerus fracture owl:Class HP:0011081 biolink:NamedThing Incisor macrodontia Increased size of the incisor tooth. tmpxe7fu0cj_hp_relaxed.owl Hypertrophy of incisor|Increased size of incisor|Increased width of incisor|Hyperplasia of incisor|Large incisor UMLS:C4023544|UMLS:C4280337 peter 2011-03-11T10:39:44Z human_phenotype owl:Class HP:0011658 biolink:NamedThing Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. tmpxe7fu0cj_hp_relaxed.owl Taussig-Bing anomaly|DORV with subpulmonary VSD without pulmonary stenosis UMLS:C4023241 peter 2012-04-09T10:07:31Z human_phenotype owl:Class HP:0410222 biolink:NamedThing Increased anti-seafood IgE antibody level Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone. tmpxe7fu0cj_hp_relaxed.owl Increased level of anti-seafood IgE antibody 2018-10-03 16:51:45+00:00 owl:Class HP:0004633 biolink:NamedThing Lower thoracic kyphosis Over curvature of the lower thoracic region, leading to a round back or if sever to a hump. tmpxe7fu0cj_hp_relaxed.owl Round mid-back UMLS:C1864361 human_phenotype owl:Class HP:0030166 biolink:NamedThing Night sweats Occurrence of excessive sweating during sleep. tmpxe7fu0cj_hp_relaxed.owl Nocturnal hyperhidrosis|Night sweats UMLS:C0028081|SNOMEDCT_US:42984000 Nighttime sweating is a symptom linked to menopause, malignancies, autoimmune diseases, and infections. owl:Class UBERON:0004230 biolink:NamedThing urinary bladder neck smooth muscle A portion of smooth muscle tissue that is part of a neck of urinary bladder [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl urinary bladder neck smooth muscle tissue|non-striated muscle of urinary bladder neck|bladder neck involuntary muscle|neck of urinary bladder smooth muscle tissue|neck of bladder smooth muscle|urinary bladder neck involuntary muscle|trigonal muscle of urinary bladder|smooth muscle of bladder neck|smooth muscle tissue of neck of bladder|vesical neck non-striated muscle|smooth muscle of neck of bladder|neck of bladder smooth muscle tissue|involuntary muscle of bladder neck|neck of urinary bladder smooth muscle|non-striated muscle of neck of bladder|smooth muscle of urinary bladder neck|non-striated muscle of neck of urinary bladder|non-striated muscle of bladder neck|involuntary muscle of urinary bladder neck|urinary bladder neck muscle|bladder neck non-striated muscle|neck of bladder involuntary muscle|involuntary muscle of vesical neck|smooth muscle tissue of vesical neck|trigonal muscle|vesical neck smooth muscle tissue|smooth muscle of vesical neck|neck of urinary bladder involuntary muscle|involuntary muscle of neck of urinary bladder|neck of urinary bladder non-striated muscle|smooth muscle tissue of urinary bladder neck|neck of bladder non-striated muscle|vesical neck involuntary muscle|bladder neck smooth muscle tissue|smooth muscle tissue of neck of urinary bladder|non-striated muscle of vesical neck|urinary bladder neck non-striated muscle|involuntary muscle of neck of bladder|vesical neck smooth muscle|smooth muscle tissue of bladder neck|bladder neck smooth muscle|smooth muscle of neck of urinary bladder EMAPA:30123|FMA:67990|MA:0001699 uberon owl:Class HP:0010138 biolink:NamedThing Absent epiphysis of the distal phalanx of the hallux Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux. tmpxe7fu0cj_hp_relaxed.owl Absent end part of the outermost bone of the big toe UMLS:C4024021 doelkens 2009-05-29T01:22:47Z human_phenotype owl:Class HP:0032783 biolink:NamedThing Focal aware autonomic seizure with piloerection A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0010780 biolink:NamedThing Hyperacusis Over-sensitivity to certain frequency ranges of sound. tmpxe7fu0cj_hp_relaxed.owl Sensitivity to noise|Loudness intolerance UMLS:C0034880|MSH:D012001|SNOMEDCT_US:194399009|SNOMEDCT_US:25289003 Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Listeners with hearing loss often struggle to detect low-level sounds, but as the sound intensity rises above threshold, loudness initially grows at a faster than normal rate, but the growth rate slows with increasing intensity so that normal loudness is achieved at high intensities. This phenomenon is referred to as loudness recruitment. However, in some hearing-impaired listeners,loudness continues to grow more rapidly than normal at suprathreshold intensities causing moderately intense sounds to be perceived as louder than normal, a debilitating condition known as hyperacusis or loudness intolerance. doelkens 2010-04-29T04:42:44Z owl:Class HP:0031671 biolink:NamedThing Typical atrial flutter Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 16:44:25+00:00 peter owl:Class HP:0005841 biolink:NamedThing Calcific stippling of infantile cartilaginous skeleton tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859135 human_phenotype owl:Class HP:0005332 biolink:NamedThing Recurrent mandibular subluxations Recurrent partial dislocations of the mandible. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857011 human_phenotype owl:Class HP:0004757 biolink:NamedThing Paroxysmal atrial fibrillation Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. tmpxe7fu0cj_hp_relaxed.owl Atrial fibrillation, paroxysmal|Paroxysmal AF|Intermittent atrial fibrillation MSH:D001281|SNOMEDCT_US:282825002|UMLS:C0235480 owl:Class HP:0005110 biolink:NamedThing Atrial fibrillation An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. tmpxe7fu0cj_hp_relaxed.owl Quivering upper heart chambers resulting in irregular heartbeat UMLS:C0004238|SNOMEDCT_US:49436004|MSH:D001281 The ventricular response to atrial fibrillation is irregularly irregular because of the large number of atrial impulses that transit the atrioventricular node, making the ventricle partially refractory to further impulses. Atrial fibrillation can cause a number of manifestations including excessive ventricular response with angina pectoris or hypotension in susceptible individuals, syncope, systemic embolization, fatigue, or anxiety. These features should be coded separately. peter 2008-03-25T06:29:00Z HP:0001715|HP:0005179 human_phenotype owl:Class UBERON:0004774 biolink:NamedThing inferior eyelid tarsus An eyelid tarsus that is part of a lower eyelid [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl inferior tarsus of eyelid|tarsal plate of lower eyelid|inferior tarsal plate|tarsus of lower eyelid|inferior tarsus|tarsus inferior FMA:59088|MA:0001257|EMAPA:37606 uberon owl:Class HP:0030265 biolink:NamedThing Wide penis Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age. tmpxe7fu0cj_hp_relaxed.owl Wide penis UMLS:C4022551 owl:Class HP:0012604 biolink:NamedThing Hyponatriuria An abnormally decreased sodium concentration in the urine. tmpxe7fu0cj_hp_relaxed.owl Low urine sodium levels UMLS:C4022824 peter 2014-01-16T06:22:09Z human_phenotype owl:Class HP:0004232 biolink:NamedThing Accessory carpal bones The presence of more than the normal number of carpal bones. tmpxe7fu0cj_hp_relaxed.owl Supernumerary carpal bones|Extra wrist bones UMLS:C0265609|SNOMEDCT_US:20136007|SNOMEDCT_US:9181003 human_phenotype owl:Class PATO:0001031 biolink:NamedThing elasticity A physical quality inhering in a bearer by virtue of the bearer's disposition to recover its size and shape after deformation in any way. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0030230 biolink:NamedThing Central core regions in muscle fibers The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric. tmpxe7fu0cj_hp_relaxed.owl Central core regions in muscle fibres UMLS:C4022568 owl:Class HP:0002731 biolink:NamedThing Decreased lymphocyte apoptosis A reduction in the rate of apoptosis in lymphocytes. tmpxe7fu0cj_hp_relaxed.owl Defective lymphocyte apoptosis UMLS:C1858969 Apoptosis, a form of programmed cell death, is an important mechanism that prevents uncontrolled proliferation of activated lymphocytes and regulates lymphocyte homeostasis. human_phenotype owl:Class HP:0033972 biolink:NamedThing Interlobular vein medial atrophy Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney. tmpxe7fu0cj_hp_relaxed.owl Medial atrophy within interlobular veins 2021-06-24 12:57:16+00:00 peter owl:Class HP:4000062 biolink:NamedThing 3-4 metacarpal synostosis A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers). tmpxe7fu0cj_hp_relaxed.owl Middle and ring finger metacarpal synostosis|Synostosis of third and the fourth metacarpal bones|Fused third and fourth metacarpals 2021-09-08 21:33:50+00:00 Metacarpal synostosis is best described as a failure of differentiation causing a union between 2 adjacent metacarpals. robinp owl:Class HP:0001137 biolink:NamedThing Alternating esotropia Esotropia in which either eye may be used for fixation. tmpxe7fu0cj_hp_relaxed.owl Alternating cross eyes UMLS:C0152205|SNOMEDCT_US:39837002 Alternating suggests that the patient may be using either eye to fixate (which means that you do not have the same one eye squinting all the time). human_phenotype owl:Class HP:0040198 biolink:NamedThing Non-medullary thyroid carcinoma tmpxe7fu0cj_hp_relaxed.owl Nonmedullary thyroid carcinoma|Thyroid cancer, nonmedullary UMLS:C3501843|MSH:C536915 owl:Class HP:0008127 biolink:NamedThing Bipartite calcaneus A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. tmpxe7fu0cj_hp_relaxed.owl Delayed coalescence of calcaneal ossification centers|Delayed coalescence of calcaneal ossification centres|Extra calcaneal ossification centre|Double calcaneal ossification center|Delayed coalescence of bipartite calcanei|Double calcaneal ossification centre|Extra calcaneal ossification center|Delayed fusion of bipartite calcanei UMLS:C1835574 HP:0008104|HP:0008130|HP:0008146 human_phenotype owl:Class HP:0002040 biolink:NamedThing Esophageal varix Extreme dilation of the submucusoal veins in the lower portion of the esophagus. tmpxe7fu0cj_hp_relaxed.owl Esophageal varices|Enlarged vein in oesophagus|Enlarged vein in esophagus UMLS:C0014867|SNOMEDCT_US:28670008|MEDDRA:10056091|MSH:D004932 Esophageal varices are most often a consequence of portal hypertension. human_phenotype owl:Class CL:0000432 biolink:NamedThing reticular cell Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum. tmpxe7fu0cj_hp_relaxed.owl reticulum cell FMA:62877 cell owl:Class GO:0071322 biolink:NamedThing cellular response to carbohydrate stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. tmpxe7fu0cj_hp_relaxed.owl mah 2009-12-10T05:13:33Z biological_process owl:Class HP:0033275 biolink:NamedThing Glomerular endothelial tubuloreticular inclusion Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 16:27:12+00:00 peter owl:Class HP:4000024 biolink:NamedThing Anti-laminin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 14:38:29+00:00 robinp owl:Class HP:0009958 biolink:NamedThing Polydactyly affecting the 3rd finger tmpxe7fu0cj_hp_relaxed.owl Extra middle finger UMLS:C4024144 doelkens 2009-05-26T09:54:29Z human_phenotype owl:Class HP:3000072 biolink:NamedThing Abnormal levator palpebrae superioris morphology An abnormality of a levator palpebrae superioris. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073279 vasilevs 2015-08-07T03:38:57Z owl:Class PR:000001281 biolink:NamedThing ADP-ribosyl cyclase A protein that contains the ADP-ribosyl cyclase domain (Pfam:PF02267). tmpxe7fu0cj_hp_relaxed.owl PIRSF:PIRSF005736 Category=family. protein owl:Class HP:0033578 biolink:NamedThing Pre-capillary pulmonary hypertension Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). tmpxe7fu0cj_hp_relaxed.owl Precapillary pulmonary hypertension 2021-01-24 14:20:32+00:00 peter owl:Class HP:0034056 biolink:NamedThing Increased fecal calprotectin level An increased amount of calprotectin in the feces. tmpxe7fu0cj_hp_relaxed.owl 2021-11-27 14:02:14+00:00 Calprotectin is a calcium- and zinc-binding protein of the S-100 protein family which is mainly found within neutrophils and throughout the human body. The presence of calprotectin in faeces is a consequence of neutrophil migration into the gastrointestinal tissue due to an inflammatory process. Faecal calprotectin concentrations demonstrate good correlation with intestinal inflammation and faecal calprotectin is used as a biomarker in gastrointestinal disorders. peter owl:Class HP:0002159 biolink:NamedThing Heparan sulfate excretion in urine An increased concentration of heparan sulfates in the urine. tmpxe7fu0cj_hp_relaxed.owl Heparan sulphate excretion in urine UMLS:C1854827 human_phenotype owl:Class HP:0011447 biolink:NamedThing Hyposegmentation of neutrophil nuclei Hyposegmented (hypolobulated) or bilobed neutrophil nuclei. tmpxe7fu0cj_hp_relaxed.owl Pelger-Huet anomaly|Hyposegmentation of neutrophil nuclei in peripheral blood MSH:D010381|UMLS:C4023351|UMLS:C0030779|SNOMEDCT_US:85559002 Hyposegmented cells are neutrophils with fewer than three nuclear lobes. peter 2012-03-18T04:44:22Z human_phenotype owl:Class GO:0040034 biolink:NamedThing regulation of development, heterochronic Any process that modulates the consistent predetermined time point at which an integrated living unit or organism progresses from an initial condition to a later condition and the rate at which this time point is reached. tmpxe7fu0cj_hp_relaxed.owl heterochronic regulation of development|temporal regulation of development|developmental timing biological_process owl:Class HP:0500219 biolink:NamedThing Abnormal CSF tyrosine concentration Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal tyrosine levels in cerebrospinal fluid 2019-02-25 19:48:03+00:00 owl:Class HP:0004938 biolink:NamedThing Tortuous cerebral arteries Excessive bending, twisting, and winding of a cerebral artery. tmpxe7fu0cj_hp_relaxed.owl Twisted cerebral arteries UMLS:C1836791 human_phenotype owl:Class HP:0011088 biolink:NamedThing Dens in dente An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth. tmpxe7fu0cj_hp_relaxed.owl Dens invaginatus|Tooth within a tooth MSH:D003719|SNOMEDCT_US:55197001|UMLS:C0011320 Dens in dente is Latin for tooth inside of tooth. Dens in dente results from an invagination of the enamel organ into the dental papilla, extending into the root before initiation of mineralization. The permanent maxillary lateral incisors are the most frequently involved teeth, but it can occur in any tooth type. It occurs more frequently in the permanent dentition and in maxillary teeth. The diagnosis dens in dente needs to be confirmed by X-rays. peter 2011-03-11T02:07:28Z owl:Class GO:0030187 biolink:NamedThing melatonin biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0060214 biolink:NamedThing endocardium formation Formation of the endocardium of the heart. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0032718 biolink:NamedThing Focal motor seizure with dystonia A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures. tmpxe7fu0cj_hp_relaxed.owl The abnormal movements of dystonia resulting from co-contraction of agonist and antagonist muscles differentiates these from tonic seizures, see focal tonic seizure. peter owl:Class GO:0003342 biolink:NamedThing proepicardium development The progression of the proepicardium from its formation to the mature structure. The proepicardium is an outpouching of the septum transversum. tmpxe7fu0cj_hp_relaxed.owl dph 2009-12-01T10:30:17Z biological_process owl:Class HP:0031348 biolink:NamedThing Dextrotransposition of the great arteries A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. tmpxe7fu0cj_hp_relaxed.owl D-loop transposition of the great arteries|D-TGA 2017-08-27 14:17:00+00:00 Fyler:700|Fyler:0700 peter owl:Class HP:0040162 biolink:NamedThing Orthokeratosis Formation of an anuclear keratin layer tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:708474007|UMLS:C1843359 owl:Class HP:0100821 biolink:NamedThing Urethrocele The prolapse of the female urethra into the vagina. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0238502|ICD-9:618.03|SNOMEDCT_US:12068006 doelkens 2011-06-09T05:06:51Z human_phenotype owl:Class HP:0200047 biolink:NamedThing Chondritis of pinna Inflammation of the cartilage of the external ear. tmpxe7fu0cj_hp_relaxed.owl Inflammation of cartilage of pinna UMLS:C0741305 sebastiankohler 2011-02-02T02:02:10Z owl:Class CHEBI:48927 biolink:NamedThing N-acyl-L-alpha-amino acid Any L-alpha-amino acid carrying an N-acyl substituent. tmpxe7fu0cj_hp_relaxed.owl N-Acyl-L-amino acid 0 C3H3NO3R2 101.061 101.01129 KEGG:C02850 CHEBI:7232|CHEBI:13240 chebi_ontology owl:Class HP:0002876 biolink:NamedThing Episodic tachypnea Episodes of very rapid breathing. tmpxe7fu0cj_hp_relaxed.owl Hyperpnea, episodic UMLS:C3806218 HP:0002881 human_phenotype owl:Class UBERON:0007384 biolink:NamedThing appendage lymph vessel A lymphatic vessel that is part of a limb/fin. tmpxe7fu0cj_hp_relaxed.owl TAO:0005300|ZFA:0005300 uberon owl:Class HP:0031152 biolink:NamedThing Full-thickness macular hole Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction. tmpxe7fu0cj_hp_relaxed.owl FTMH 2017-06-18 13:12:27+00:00 peter owl:Class HP:0032083 biolink:NamedThing Aortic elastic fiber fragmentation Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers. tmpxe7fu0cj_hp_relaxed.owl Aortic elastic fibre fragmentation 2018-10-14 14:56:34+00:00 peter owl:Class UBERON:0009014 biolink:NamedThing lower back skin A zone of skin that is part of a lower back. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37281|MA:0000504 uberon owl:Class HP:0031898 biolink:NamedThing Rouleaux formation Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells. tmpxe7fu0cj_hp_relaxed.owl Increased rouleaux formation 2018-05-19 15:09:54+00:00 peter owl:Class GO:0003315 biolink:NamedThing heart rudiment formation The developmental process pertaining to the initial formation of the heart rudiment. tmpxe7fu0cj_hp_relaxed.owl heart cone formation dph 2009-10-27T08:43:37Z biological_process owl:Class HP:0012755 biolink:NamedThing Enlarged brainstem Abnormal increase in size of the brainstem. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022741 An enlarged brainstem may be observed with diffuse infiltrating tumor, PNET (primitive neuroectodermal tumor), ganglionoma, hamartoma, vascular malformation, or inflammatory process. peter 2014-03-30T07:23:06Z human_phenotype owl:Class UBERON:0018145 biolink:NamedThing lumbar rib A rib that is attached to a lumbar vertebra. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class May be homologous with the transverse processes of lumbar vertebra HP:0002054 biolink:NamedThing Heavy supraorbital ridges tmpxe7fu0cj_hp_relaxed.owl Heavy supraorbital ridge|Heavy brow of the face UMLS:C1845107 human_phenotype owl:Class HP:0410179 biolink:NamedThing Decreased glucose-6-phosphate dehydrogenase level in blood A decrease in the level of glucose-6-phosphate dehydrogenase in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased G6PD level in blood 2018-05-21 17:55:41+00:00 owl:Class GO:0016620 biolink:NamedThing oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces NAD or NADP. tmpxe7fu0cj_hp_relaxed.owl EC:1.2.1.-|Reactome:R-HSA-1222583 molecular_function owl:Class HP:0000774 biolink:NamedThing Narrow chest Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. tmpxe7fu0cj_hp_relaxed.owl Narrow shoulders|Low chest circumference|Narrow chest|Reduced anterior-posterior chest diameter|Narrow thorax UMLS:C0426790|SNOMEDCT_US:249671009 HP:0005252|HP:0000909|HP:0006588 human_phenotype owl:Class HP:0005257 biolink:NamedThing Thoracic hypoplasia tmpxe7fu0cj_hp_relaxed.owl Small thorax|Small chest UMLS:C1837482 HP:0001590 human_phenotype owl:Class HP:0031188 biolink:NamedThing Genital edema A buildup of fluid that causes swelling in the soft tissues of the genital area. tmpxe7fu0cj_hp_relaxed.owl Genital oedema 2017-06-24 12:59:46+00:00 peter owl:Class HP:0032858 biolink:NamedThing Focal impaired awareness motor seizure with negative myoclonus A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal motor impaired awareness seizure with negative myoclonus peter owl:Class HP:0100038 biolink:NamedThing Slow-growing scalp hair Scalp hair whose growth is slower than normal. tmpxe7fu0cj_hp_relaxed.owl Slow-growing scalp hair UMLS:C4022383 doelkens 2010-06-22T05:46:59Z HP:0004553 owl:Class HP:0010107 biolink:NamedThing Short proximal phalanx of hallux Underdevelopment (hypoplasia) of the proximal phalanx of big toe. tmpxe7fu0cj_hp_relaxed.owl Small proximal phalanx of hallux|Short proximal phalanx of halluces|Short proximal phalanges of halluces|Hypoplastic proximal phalanx of the hallux|Small proximal phalanx of big toe|Short innermost big toe bone UMLS:C1862159 doelkens 2009-05-29T12:43:40Z HP:0008129|HP:0008101 human_phenotype owl:Class HP:0032067 biolink:NamedThing Elevated serum bicarbonate concentration An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated serum HCO3 concentration 2018-09-23 14:36:57+00:00 peter owl:Class HP:0032065 biolink:NamedThing Abnormal serum bicarbonate concentration Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal serum HCO3 concentration 2018-09-23 14:32:07+00:00 Bicarbonate represents the second largest category of anions in plasma. The measurement of bicarbonate also captures carbonate (CO3[-2]) ions, carbon dioxide in solution, and carbamino compounds but the latter represent a tiny fraction of the total measured amount. peter owl:Class HP:0010564 biolink:NamedThing Bifid epiglottis A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0339864|SNOMEDCT_US:232412004 sandra1 2009-10-16T02:20:48Z human_phenotype owl:Class HP:0005483 biolink:NamedThing Abnormal epiglottis morphology An abnormality of the epiglottis. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the epiglottis UMLS:C4025190 peter 2008-03-26T08:25:00Z human_phenotype owl:Class HP:0041094 biolink:NamedThing Complete tracheal ring Continuous or nearly continuous configuration of the cartilaginous tracheal ring. tmpxe7fu0cj_hp_relaxed.owl CTRD|Complete tracheal rings|Complete tracheal ring deformity The trachea is surrounded by 16-20 rings of hyaline cartilage; these rings are incomplete and horseshoe-shaped (C-shaped). In complete tracheal rings, the rings encircle the entire trachea (O-shaped) or nearly the entire trachea. Pulmonary artery sling is a vascular anomaly often seen in CTRD in which the left pulmonary artery (LPA) originates from the right pulmonary artery (RPA) and encircles the distal trachea and right primary bronchus before entering the hilum of the left lung. Pumonary artery sling should be coded separately (HP:0004961). owl:Class HP:0031629 biolink:NamedThing Impaired tandem gait Reduced ability to walk in a straight line while placing the feet heel to toe. tmpxe7fu0cj_hp_relaxed.owl Clumsy tandem walking 2017-12-17 00:38:29+00:00 peter owl:Class HP:0009642 biolink:NamedThing Broad distal phalanx of the thumb Increased width of the distal phalanx of thumb. tmpxe7fu0cj_hp_relaxed.owl Broad terminal thumb phalanx|Broad outermost bone of the thumb|Wide outermost bone of thumb|Wide distal phalanx of thumb UMLS:C1863402 doelkens 2009-01-29T05:19:33Z HP:0004088|HP:0006198 human_phenotype owl:Class PATO:0000692 biolink:NamedThing heterochronic A quality of a single process inhering in a bearer by virtue of the bearer's origin or development at an unusual time or out of the regular sequence. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0004911 biolink:NamedThing Episodic metabolic acidosis Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids. tmpxe7fu0cj_hp_relaxed.owl Recurrent episodes of acidosis UMLS:C1859516 HP:0005963 human_phenotype owl:Class HP:0030143 biolink:NamedThing Hyperactive bowel sounds Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines. tmpxe7fu0cj_hp_relaxed.owl Borborygmi|Increased bowel sounds SNOMEDCT_US:18101008|UMLS:C0232694 owl:Class UBERON:0013720 biolink:NamedThing dartos muscle of labia majora A dartos muscle that is part of a female reproductive system. tmpxe7fu0cj_hp_relaxed.owl dartos muliebris|dartos layer of labia uberon owl:Class HP:0034036 biolink:NamedThing Pseudo-chilblains on toes Inflammatory chilblain-like nodules on the feet and/or toes. tmpxe7fu0cj_hp_relaxed.owl Chilblain-like toes|COVID toe|Chilblain-like toe lesions 2021-09-24 13:48:17+00:00 peter owl:Class HP:0030852 biolink:NamedThing High pulse pressure Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). tmpxe7fu0cj_hp_relaxed.owl UMLS:C0855323 owl:Class HP:0030850 biolink:NamedThing Abnormal pulse pressure An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0855322 owl:Class UBERON:0015154 biolink:NamedThing lateral gland of orbital region A gland that is located in or around the ocular region, nearer the outer canthi. tmpxe7fu0cj_hp_relaxed.owl lateral ocular gland|lateral orbital gland The class name or definition should not be taken to mean strictly in the lateral ocular region. We place the extraocular lacrimal glands, even though they are as the name suggests outside the ocular region. The class exists as the division between lateral vs medial (Harderian, nictitans) glands is standard, e.g. http://www.ncbi.nlm.nih.gov/pubmed/7559104 uberon owl:Class GO:2000791 biolink:NamedThing negative regulation of mesenchymal cell proliferation involved in lung development Any process that stops, prevents or reduces the frequency, rate or extent of mesenchymal cell proliferation involved in lung development. tmpxe7fu0cj_hp_relaxed.owl pr 2011-06-24T01:53:53Z biological_process owl:Class UBERON:0018679 biolink:NamedThing thoracic splanchnic nerve Thoracic splanchnic nerves are splanchnic nerves that arise from the sympathetic trunk in the thorax and travel inferiorly to provide sympathetic innervation to the abdomen. The nerves contain preganglionic sympathetic and general visceral afferent fibers. tmpxe7fu0cj_hp_relaxed.owl FMA:6280 uberon owl:Class CHEBI:76874 biolink:NamedThing EC 2.1.2.* (hydroxymethyl-, formyl- and related transferases) inhibitor An EC 2.1.* (C1-transferase) inhibitor that interferes with the action of any hydroxymethyl-, formyl- and related transferase (EC 2.1.2.*). tmpxe7fu0cj_hp_relaxed.owl EC 2.1.2.* inhibitor|hydroxymethyl-, formyl- and related transferases (EC 2.1.2.*) inhibitor|hydroxymethyl-, formyl- and related transferases (EC 2.1.2.*) inhibitors|EC 2.1.2.* (hydroxymethyl-, formyl- and related transferases) inhibitors|EC 2.1.2.* inhibitors chebi_ontology owl:Class GO:0044565 biolink:NamedThing dendritic cell proliferation The expansion of a dendritic cell population by cell division. A dendritic cell is a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. tmpxe7fu0cj_hp_relaxed.owl jl 2012-04-05T04:31:39Z biological_process owl:Class HP:0010089 biolink:NamedThing Osteolytic defects of the proximal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024058 doelkens 2009-05-29T12:17:16Z human_phenotype owl:Class HP:0200118 biolink:NamedThing Malabsorption of Vitamin B12 tmpxe7fu0cj_hp_relaxed.owl Malabsorption of cyanocobalamin|Vitamin B12 deficiency caused by intestinal malabsorption UMLS:C1850013|UMLS:C0750292 sebastiankohler 2013-06-11T11:04:49Z human_phenotype owl:Class HP:0100822 biolink:NamedThing Rectocele A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy. tmpxe7fu0cj_hp_relaxed.owl MSH:D020047|UMLS:C0149771|SNOMEDCT_US:62730001|ICD-9:618.04|SNOMEDCT_US:447072005 doelkens 2011-06-09T05:07:41Z human_phenotype owl:Class HP:0002035 biolink:NamedThing Rectal prolapse Protrusion of the rectal mucous membrane through the anus. tmpxe7fu0cj_hp_relaxed.owl Rectal prolapsed|Rectum protrudes through anus MEDDRA:10038077|SNOMEDCT_US:57773001|MSH:D012005|UMLS:C0034888 human_phenotype owl:Class HP:0025046 biolink:NamedThing Reduced brain lactate level by MRS A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl Reduced brain lactate level by magnetic resonance spectroscopy 2016-09-25 16:45:22+00:00 HPO:probinson owl:Class CHEBI:33240 biolink:NamedThing coordination entity An assembly consisting of a central atom (usually metallic) to which is attached a surrounding array of other groups of atoms (ligands). tmpxe7fu0cj_hp_relaxed.owl coordination entity|coordination entities|coordination compounds chebi_ontology owl:Class HP:0011596 biolink:NamedThing Left aortic arch with right descending aorta and right ductus arteriosus The ring may be completed by the ductal ligament. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023277 peter 2012-04-08T02:10:48Z human_phenotype owl:Class HP:0032356 biolink:NamedThing Decreased pre-bronchodilator forced vital capacity An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication. tmpxe7fu0cj_hp_relaxed.owl Decreased prebronchodilator forced vital capacity|Decreased pre bronchodilator forced vital capacity 2019-02-23 17:02:47+00:00 peter owl:Class HP:0007873 biolink:NamedThing Abnormally prominent line of Schwalbe tmpxe7fu0cj_hp_relaxed.owl Prominent Schwalbe lines UMLS:C1862376 HP:0007940 human_phenotype owl:Class GO:0070293 biolink:NamedThing renal absorption A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686). tmpxe7fu0cj_hp_relaxed.owl nephron absorption|renal reabsorption biological_process owl:Class UBERON:0010424 biolink:NamedThing distal segment of rib tmpxe7fu0cj_hp_relaxed.owl vertical segment of rib|sternal rib|distal part of rib|distal rib|distal rib segment EMAPA:37492|MA:0001418|MA:0001397 The distal rib derives from both somite halves[PMID:15906248] uberon owl:Class HP:0012635 biolink:NamedThing Iris hypoperfusion Reduction in the amount of blood flow to the iris. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022812 This feature can be diagnosed by iris angiography. peter 2014-01-17T11:41:07Z human_phenotype owl:Class HP:0045025 biolink:NamedThing Narrow palpebral fissure Reduction in the vertical distance between the upper and lower eyelids. tmpxe7fu0cj_hp_relaxed.owl Decreased size of palpebral fissure|Small opening between the eyelids|Narrow palpebral fissures|Narrow eyelid opening|Small palpebral fissures UMLS:C1837464|UMLS:C2675021 HPO:skoehler owl:Class GO:0042175 biolink:NamedThing nuclear outer membrane-endoplasmic reticulum membrane network The continuous network of membranes encompassing the nuclear outer membrane and the endoplasmic reticulum membrane. tmpxe7fu0cj_hp_relaxed.owl NE-ER network|nuclear envelope-ER network|nuclear membrane-endoplasmic reticulum continuum|NE-ER continuum|nuclear envelope-endoplasmic reticulum network|nuclear envelope-endoplasmic reticulum continuum|nuclear membrane-ER network cellular_component owl:Class HP:0008755 biolink:NamedThing Laryngotracheomalacia tmpxe7fu0cj_hp_relaxed.owl UMLS:C0585984|SNOMEDCT_US:308232009 human_phenotype owl:Class GO:0002832 biolink:NamedThing negative regulation of response to biotic stimulus Any process that stops, prevents, or reduces the frequency, rate, or extent of a response to biotic stimulus. tmpxe7fu0cj_hp_relaxed.owl inhibition of response to biotic stimulus|down regulation of response to biotic stimulus|down-regulation of response to biotic stimulus|downregulation of response to biotic stimulus Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. biological_process owl:Class UBERON:0000000 biolink:NamedThing processual entity An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class UBERON:0005648 biolink:NamedThing manual digit 5 epithelium An epithelium that is part of a manual digit 5. tmpxe7fu0cj_hp_relaxed.owl fore limb digit 5 epithelium|manual digit V epithelium|hand digit 5 epithelium EMAPA:17442|EHDAA2:0000536 uberon owl:Class HP:0012501 biolink:NamedThing Abnormality of the brainstem white matter An anomaly of the white matter of brainstem. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022876 peter 2013-11-30T09:19:46Z human_phenotype owl:Class HP:0032339 biolink:NamedThing Polyclonal elevation of circulating IgE A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis. tmpxe7fu0cj_hp_relaxed.owl 2019-02-18 14:16:50+00:00 peter owl:Class HP:0030482 biolink:NamedThing Abnormal timing of light-adapted single flash electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072972 owl:Class HP:0031995 biolink:NamedThing Squawks Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles. tmpxe7fu0cj_hp_relaxed.owl 2018-07-15 19:48:18+00:00 Squawks are found in pulmonary fibrosis of various causes, particularly in hypersensitivity pneumonitis. Other causes are detected in pneumonia and bronchiolitis obliterans. peter owl:Class HP:0030828 biolink:NamedThing Wheezing A high-pitched whistling sound associated with labored breathing. tmpxe7fu0cj_hp_relaxed.owl Wheezing SNOMEDCT_US:56018004|MSH:D012135|UMLS:C0043144 Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less owl:Class HP:0008970 biolink:NamedThing Scapulohumeral muscular dystrophy tmpxe7fu0cj_hp_relaxed.owl MSH:C562932|UMLS:C0410192|SNOMEDCT_US:240074006 human_phenotype owl:Class HP:0031423 biolink:NamedThing Small cerebellar cortex Reduced size of the cerebellar cortex. tmpxe7fu0cj_hp_relaxed.owl 2017-09-16 11:14:43+00:00 peter owl:Class HP:0031422 biolink:NamedThing Abnormal cerebellar cortex morphology Any structural anomaly of the cortex of the cerebellum. tmpxe7fu0cj_hp_relaxed.owl Abnormal morphology of the cerebellar cortex 2017-09-16 11:13:15+00:00 peter owl:Class HP:0001475 biolink:NamedThing Male-limited autosomal dominant tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025764 human_phenotype owl:Class HP:0001884 biolink:NamedThing Talipes calcaneovalgus Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg. tmpxe7fu0cj_hp_relaxed.owl Pes calcaneovarus MSH:D005413|SNOMEDCT_US:205083002|UMLS:C0152237|SNOMEDCT_US:31668003 owl:Class HP:0032617 biolink:NamedThing Renal interstitial hemorrhage A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. tmpxe7fu0cj_hp_relaxed.owl Renal interstitial haemorrhage peter owl:Class HP:0007643 biolink:NamedThing Peripheral tractional retinal detachment Tractional retinal detachment at the periphery of the retina. tmpxe7fu0cj_hp_relaxed.owl Tractional retinal detachment at the periphery of the retina|Peripheral traction retinal detachment UMLS:C4024825 human_phenotype owl:Class GO:0098796 biolink:NamedThing membrane protein complex Any protein complex that is part of a membrane. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0041088 biolink:NamedThing Avulsion fractured humerus A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0011431 biolink:NamedThing Fetal fifth finger clinodactyly Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637). tmpxe7fu0cj_hp_relaxed.owl Foetal pinky finger curvature|Foetal pinkie finger curvature|Fetal little finger curvature|Foetal fifth finger clinodactyly|Fetal pinkie finger curvature|Foetal little finger curvature|Fetal pinky finger curvature UMLS:C4023362|UMLS:C4280326 peter 2012-03-17T07:11:26Z owl:Class HP:0009112 biolink:NamedThing Aplasia of the left hemidiaphragm Congenital absence of the left half of the diaphragm. tmpxe7fu0cj_hp_relaxed.owl Absent left hemidiaphragm|Left diaphragmatic hernia UMLS:C4024593 peter 2008-04-05T10:43:00Z HP:0040048 human_phenotype owl:Class HP:0410371 biolink:NamedThing Increased hepatitis C virus antibody level An abnormally increased level of immunoglobulin against hepatitis C virus in the blood. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0045006 biolink:NamedThing Aplasia of lymphatic vessels Aplasia (absence) of the lymphatic vessels. tmpxe7fu0cj_hp_relaxed.owl Absent lymphatic vessels UMLS:C4022404 HPO:skoehler owl:Class HP:0100111 biolink:NamedThing Absent epiphysis of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Absent end part of the middle bone of the 2nd toe UMLS:C4022310 doelkens 2010-06-24T10:05:37Z human_phenotype owl:Class HP:0034138 biolink:NamedThing Anti-contactin-associated protein 1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1. tmpxe7fu0cj_hp_relaxed.owl Anti-CASPR1 antibody positivity 2021-12-23 13:00:48+00:00 peter owl:Class HP:0010811 biolink:NamedThing Narrow uvula Decreased width of the uvula. tmpxe7fu0cj_hp_relaxed.owl Thin uvula|Narrow palatine uvula UMLS:C4023696 peter 2010-07-05T10:25:14Z owl:Class HP:0025730 biolink:NamedThing Foramen ovale aneurysm Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow. tmpxe7fu0cj_hp_relaxed.owl Fetal atrial septal dilatation|Redundant septum primum flap The reported incidence of foramen ovale aneurysm (FOA) in preterm and term infants is 11.1% and 7.1%, respectively. Postnatally, most atrial septal aneurysms resolve spontaneously as the pressure in the left atrium increases and compresses the septum against the foramen ovale. However, atrial septal aneurysms may be associated with other cardiac anomalies including atrial septum defect, patent foramen ovale, and mitral valve prolapse. In the absence of other cardiac anomalies or arrhythmia, the prognosis for FOA is excellent. See figure 7 of PMID:30601441. peterrobinson owl:Class HP:0100690 biolink:NamedThing Mosaic central corneal dystrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021996 doelkens 2011-02-18T04:52:59Z human_phenotype owl:Class HP:0007836 biolink:NamedThing Mosaic corneal dystrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024786 human_phenotype owl:Class UBERON:0004934 biolink:NamedThing submucosa of body of stomach A submucosa that is part of a body of stomach [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl gastric body submucosa|corpus gastricum (ventriculare) submucosa|submucosa of stomach body|stomach body submucosa|body of stomach submucosa|submucosa of corpus gastricum (ventriculare)|submucosa of gastric body FMA:17059 uberon owl:Class HP:0033530 biolink:NamedThing Increased cardiac index An elevated cardiac index, defined as cardiac output divided by body surface area. tmpxe7fu0cj_hp_relaxed.owl 2021-01-15 12:53:42+00:00 peter owl:Class HP:0004942 biolink:NamedThing Aortic aneurysm Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter. tmpxe7fu0cj_hp_relaxed.owl Aortic dilatation|Bulge in wall of large artery that carries blood away from heart SNOMEDCT_US:67362008|MSH:D001014|Fyler:2708|Fyler:2301|UMLS:C0003486 Aneurysm is considered a severe (pathological) form of dilatation of a segment of a blood vessel. In clinical practice, dilatation and aneurysm are occasionally used interchangably. In this subhierarchy, we therefore use aneurysm as the primary label and list dilatation as a broad synonym. HP:0001724 owl:Class HP:0000519 biolink:NamedThing Developmental cataract A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. tmpxe7fu0cj_hp_relaxed.owl Clouding of the lens of the eye at birth|Congenital cataracts, bilateral|Congenital cataract|Congenital cataracts|Bilateral congenital cataracts|Cataract, congenital UMLS:C0009691|SNOMEDCT_US:609587005|SNOMEDCT_US:79410001|UMLS:C3277059 In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy. HP:0007692|HP:0007726|HP:0007788|HP:0001108|HP:0007679 human_phenotype owl:Class HP:0025202 biolink:NamedThing Elevated circulating apolipoprotein A-IV concentration An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II. tmpxe7fu0cj_hp_relaxed.owl Elevated apolipoprotein A-IV level 2016-12-10 12:56:05+00:00 HPO:probinson owl:Class HP:0500252 biolink:NamedThing Increased urine sebacic acid concentration Elevated concentration of sebacic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urine decanedioic acid concentration 2019-03-08 20:03:22+00:00 owl:Class GO:0070288 biolink:NamedThing ferritin complex A protein complex that binds iron and acts as a major iron storage system. Intracellular and extracellular ferritin complexes have different ratios of two types of ferritin monomer, the L (light) chain and H (heavy) chain. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0033648 biolink:NamedThing Pulmonary pseudocavity A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia. tmpxe7fu0cj_hp_relaxed.owl 2021-02-24 12:49:36+00:00 See Figure 57 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0005465 biolink:NamedThing Facial hyperostosis Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton. tmpxe7fu0cj_hp_relaxed.owl Hypertrophy of facial skeleton|Hyperostosis of facial bones|Enlargment of the facial bones|Hypertrophy of the facial bones|Overgrowth of facial skeleton|Overgrowth of the facial bones|Excessive growth of facial bones|Enlargement of facial skeleton|Excessive growth of facial skeleton|Hyperostosis of facial skeleton|Overgrowth of facial bones|Increased ossification of facial skeleton|Increased ossification of facial bones|Hypertrophy of facial bones|Increase in size of the facial bones|Enlargement of facial bones UMLS:C4280486|UMLS:C4280487|UMLS:C4280485|UMLS:C1857501 HP:0008508 human_phenotype owl:Class HP:0005155 biolink:NamedThing Ventricular escape rhythm A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms). tmpxe7fu0cj_hp_relaxed.owl Idioventricular escape rhythm UMLS:C0232216|SNOMEDCT_US:81898007 human_phenotype owl:Class GO:0051919 biolink:NamedThing positive regulation of fibrinolysis Any process that activates, maintains or increases the frequency, rate or extent of fibrinolysis, an ongoing process that solubilizes fibrin, resulting in the removal of small blood clots. tmpxe7fu0cj_hp_relaxed.owl activation of fibrinolysis|up-regulation of fibrinolysis|upregulation of fibrinolysis|up regulation of fibrinolysis|stimulation of fibrinolysis biological_process owl:Class HP:0005954 biolink:NamedThing Pulmonary capillary hemangiomatosis tmpxe7fu0cj_hp_relaxed.owl Pulmonary hemangiomas SNOMEDCT_US:233949008|UMLS:C0340548 owl:Class GO:0032252 biolink:NamedThing secretory granule localization Any process in which a secretory granule is transported to, and/or maintained in, a specific location within the cell. tmpxe7fu0cj_hp_relaxed.owl secretory granule clustering|secretory granule localisation biological_process owl:Class PATO:0001869 biolink:NamedThing pathological A quality inhering in a bearer by virtue of the bearer's being abnormal and having a destructive effect on living tissue. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0004274 biolink:NamedThing Deficient ossification of hand bones tmpxe7fu0cj_hp_relaxed.owl Deficient maturation of hand bones UMLS:C4280534|UMLS:C4025376 human_phenotype owl:Class HP:0007133 biolink:NamedThing Progressive peripheral neuropathy tmpxe7fu0cj_hp_relaxed.owl Progressive polyneuropathy UMLS:C1859178 HP:0007329 owl:Class HP:0006647 biolink:NamedThing Congenital microthorax tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025011 human_phenotype owl:Class HP:0033899 biolink:NamedThing Arcuate artery lumen organized thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney. tmpxe7fu0cj_hp_relaxed.owl Organized thrombi within arcuate arterial lumen 2021-06-23 22:26:16+00:00 peter owl:Class GO:0032602 biolink:NamedThing chemokine production The appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. All chemokines possess a number of conserved cysteine residues involved in intramolecular disulfide bond formation. Some chemokines are considered pro-inflammatory and can be induced during an immune response to recruit cells of the immune system to a site of infection, while others are considered homeostatic and are involved in controlling the migration of cells during normal processes of tissue maintenance or development. Chemokines are found in all vertebrates, some viruses and some bacteria. tmpxe7fu0cj_hp_relaxed.owl chemokine anabolism|chemokine formation|chemokine metabolic process|chemokine biosynthesis|chemokine synthesis|chemokine secretion|chemokine biosynthetic process 2009-12-18T11:26:20Z GO:0050755|GO:0042033|GO:0090195 biological_process owl:Class HP:0006169 biolink:NamedThing Decreased mobility 3rd-5th fingers tmpxe7fu0cj_hp_relaxed.owl Decreased mobility 3rd-5th fingers UMLS:C1833882 human_phenotype owl:Class HP:0030608 biolink:NamedThing Increased OCT-measured macular thickness tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073078 owl:Class UBERON:0012282 biolink:NamedThing mammary fat pad Encapsulated adipose tissue associated with the mammary gland. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37901 uberon owl:Class CHEBI:35522 biolink:NamedThing beta-adrenergic agonist An agent that selectively binds to and activates beta-adrenergic receptors. tmpxe7fu0cj_hp_relaxed.owl beta-adrenergic agonists|beta-adrenoceptor agonists|beta-adrenergic receptor agonist chebi_ontology owl:Class CHEBI:37886 biolink:NamedThing adrenergic agonist An agent that selectively binds to and activates adrenergic receptors. tmpxe7fu0cj_hp_relaxed.owl adrenomimetic|adrenergic receptor agonist|adrenoceptor agonists|adrenergic agonists|adrenomimetics chebi_ontology owl:Class HP:0005482 biolink:NamedThing Abnormality of the alternative complement pathway A deviation in any aspect of the alternative complement pathway. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025191 The alternative complement pathway is one of three complement pathways, which is an innate component of the immune system's natural defense against infections. The alternative complement pathway has three unique components, factor B, factor D, and properdin. peter 2008-03-26T08:12:00Z human_phenotype owl:Class GO:0015980 biolink:NamedThing energy derivation by oxidation of organic compounds tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0007597 biolink:NamedThing blood coagulation, intrinsic pathway A protein activation cascade that contributes to blood coagulation and consists of the interactions among high molecular weight kininogen, prekallikrein, and factor XII that lead to the activation of clotting factor X. tmpxe7fu0cj_hp_relaxed.owl See also the biological process term 'blood coagulation, extrinsic pathway ; GO:0007598'. biological_process owl:Class HP:0003874 biolink:NamedThing Humerus varus tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025537 human_phenotype owl:Class HP:0031662 biolink:NamedThing Fixed splitting of the second heart sound Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. tmpxe7fu0cj_hp_relaxed.owl Fixed splitting of S2 2017-12-17 16:08:14+00:00 Fixed splitting of S2 may occur in patients with secundum atrial septal defect. peter owl:Class HP:0010210 biolink:NamedThing Triangular shaped proximal phalanges of the toes tmpxe7fu0cj_hp_relaxed.owl Triangular shaped innermost toe bones UMLS:C4023969 doelkens 2009-05-29T01:54:18Z owl:Class HP:0025267 biolink:NamedThing Snoring Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping. tmpxe7fu0cj_hp_relaxed.owl Snore|Snores|Snoring symptoms 2016-12-18 13:24:58+00:00 HPO:probinson owl:Class HP:0032465 biolink:NamedThing Bladder trabeculation Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface. tmpxe7fu0cj_hp_relaxed.owl Trabecular bladder 2019-04-04 09:28:51+00:00 Bladder trabeculation is caused by morphological and histological changes due to hypertrophy and hyperplasia of the bladder muscle and the infiltration of the connective tissue. peter owl:Class HP:0011332 biolink:NamedThing Hemifacial hypoplasia Unilateral underdevelopment of the facial tissues, including muscles and bones. tmpxe7fu0cj_hp_relaxed.owl Hemifacial microsomia|Shrinking of half of face|Decreased size of one side of the face|Shrinking of one side of the face|Decrease in size of half of face|Decreased size of half of the face|Decrease in size of one side of the face UMLS:C4023411|MSH:D006053|UMLS:C3495417|SNOMEDCT_US:254025006 peter 2012-02-25T05:05:45Z human_phenotype owl:Class HP:0012420 biolink:NamedThing Meconium stained amniotic fluid Amniotic fluid containing the earliest stools of a mammalian infant. tmpxe7fu0cj_hp_relaxed.owl Meconium-stained amniotic fluid|Meconium staining of amniotic fluid SNOMEDCT_US:168092006|SNOMEDCT_US:249135009|UMLS:C0426209 Meconium may be expelled into the amniotic fluid before birth in response to fetal distress. If meconium is aspirated by the fetus, it may lead to meconium aspiration syndrome. peter 2013-11-10T06:01:40Z owl:Class HP:0004009 biolink:NamedThing Medially sloping radial epiphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025448 human_phenotype owl:Class HP:0025446 biolink:NamedThing Anomalous insertion of papillary muscle directly into anterior mitral leaflet A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet. tmpxe7fu0cj_hp_relaxed.owl 2017-04-30 10:50:30+00:00 This malformation consists of a direct continuity between a hypertrophied papillary muscle and the anterior mitral leaflet (Normally, the papillary muscle is connected to the leaflet via the chordae tendinae). Themalformation can be identified echocardiographically. It results in a long rigid area of mid-cavity narrowing that in turn can cause left ventricular outflow tract obstruction. HPO:probinson owl:Class PATO:0000407 biolink:NamedThing flat A quality inhering in a bearer by virtue of the bearer's having a horizontal surface without a slope, tilt, or curvature. tmpxe7fu0cj_hp_relaxed.owl plate-like quality owl:Class UBERON:0002443 biolink:NamedThing choroidal blood vessel A blood vessel that is part of a choroid [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl vasa sanguinea choroideae|choroid blood vessels set|choroid coat blood vessel|choroid blood vessels|choroid blood vessel|choroidea blood vessel|blood vessel of posterior uvea|blood vessel of choroid coat|blood vessel of choroidea|blood vessel of choroid|set of choroid blood vessels|posterior uvea blood vessel EMAPA:17828|MA:0001237|FMA:76550 cannot find singular in FMA, using Set class uberon owl:Class UBERON:0001606 biolink:NamedThing muscle of iris . tmpxe7fu0cj_hp_relaxed.owl iris muscle|muscle organ of iris|iris muscle organ Wikipedia:Iris_muscle|SCTID:280888007|EMAPA:35448|FMA:49154|MA:0001287 revisit this, see issue #331 uberon owl:Class in aves, stromal mesenchymal cells may migrate to the iris and become skeletal|The muscle cells of the iris are smooth muscle in mammals and amphibians, but are striated muscle in birds and reptiles. Many fish have neither, and, as a result, their irides are unable to dilate and contract, so that the pupil always remains of a fixed size[Romer, via WP] CHEBI:60073 biolink:NamedThing N-acylneuraminate A sialic acid anion arising from deprotonation of the carboxy group of an N-acylneuraminic acid; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl 5-alkanamido-3,5-dideoxy-D-glycero-D-galacto-non-2-ulopyranosonate|an N-acylneuraminate|N-acylneuraminate cation -1 C10H15NO9R 293.22740 293.07468 [H][C@]1(OC(O)(C[C@H](O)[C@H]1NC([*])=O)C([O-])=O)[C@H](O)[C@H](O)CO chebi_ontology owl:Class PR:Q9QUM0 biolink:NamedThing integrin alpha-IIb (mouse) An integrin alpha-IIb that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl CD41 (mouse)|GPIIb (mouse)|GPalpha IIb (mouse)|platelet membrane glycoprotein IIb (mouse)|mITGA2B|Itga2b UniProtKB:Q9QUM0 Category=organism-gene. protein owl:Class PATO:0001646 biolink:NamedThing protruding out of A quality inhering into a bearer by virtue of the bearer's extending out above or beyond its surface or boundary and outwards in relation to the physical space occupied by another entity. tmpxe7fu0cj_hp_relaxed.owl exposed|extruding from|exits through quality owl:Class HP:0007750 biolink:NamedThing Hypoplasia of the fovea Underdevelopment of the fovea centralis. tmpxe7fu0cj_hp_relaxed.owl Dull foveal reflex|Foveal hypoplasia UMLS:C2673946|UMLS:C4072863 A dull foveal reflex is an unusual reflex of the foveal region on fundoscopy that may indicate hypoplasia of the fovea. human_phenotype owl:Class HP:0008207 biolink:NamedThing Primary adrenal insufficiency Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. tmpxe7fu0cj_hp_relaxed.owl Addison's disease|Addison disease|Adrenocortical insufficiency|Primary adrenocortical failure UMLS:C0001403|SNOMEDCT_US:373662000|SNOMEDCT_US:386584007|UMLS:C0405580|MSH:D000224|SNOMEDCT_US:363732003 Deficiency of both glucocorticoids and mineralocorticoids. HP:0008252|HP:0008219|HP:0000862 human_phenotype owl:Class HP:0031863 biolink:NamedThing Bloodstream infectious agent The presence of an infectious agent in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 21:12:23+00:00 Infectious agents can be classified into five groups: viruses, bacteria, fungi, protozoa, and helminths (worms). peter owl:Class CL:0007000 biolink:NamedThing preameloblast Skeletogenic cell that has the potential to develop into an ameloblast. Located in the inner enamel epithelium, these cells elongate, their nuclei shift distally (away from the dental papilla), and their cytoplasm becomes filled with organelles needed for synthesis and secretion of enamel proteins. tmpxe7fu0cj_hp_relaxed.owl unsure of neural crest contribution. In VSAO we have develops_from CL:0000008 haendel 2012-06-15T01:27:01Z cell owl:Class HP:0500090 biolink:NamedThing Periocular capillary hemangioma A capillary hemangioma surrounding the eyeball but within the orbit. tmpxe7fu0cj_hp_relaxed.owl Peri-ocular capillary hemangioma 2018-03-27 14:45:09+00:00 owl:Class HP:0003248 biolink:NamedThing Gonadal tissue inappropriate for external genitalia or chromosomal sex tmpxe7fu0cj_hp_relaxed.owl UMLS:C1860268 human_phenotype owl:Class HP:5000012 biolink:NamedThing Anti-Gephyrin antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin. tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-3387-1836 owl:Class GO:1901246 biolink:NamedThing regulation of lung ciliated cell differentiation Any process that modulates the frequency, rate or extent of lung ciliated cell differentiation. tmpxe7fu0cj_hp_relaxed.owl vk 2012-08-08T08:58:34Z biological_process owl:Class HP:0002625 biolink:NamedThing Deep venous thrombosis Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. tmpxe7fu0cj_hp_relaxed.owl Multiple deep venous thrombosis|Blood clot in a deep vein|Deep vein thrombosis MSH:D020246|SNOMEDCT_US:128053003|UMLS:C0149871 human_phenotype owl:Class HP:0008314 biolink:NamedThing Decreased activity of mitochondrial complex II A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria. tmpxe7fu0cj_hp_relaxed.owl Respiratory complex II deficiency UMLS:C4020801|UMLS:C4024705 human_phenotype owl:Class GO:0051904 biolink:NamedThing pigment granule transport The directed movement of pigment granules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl pigment granule translocation biological_process owl:Class HP:0033213 biolink:NamedThing Elevated urine suberic acid level An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. tmpxe7fu0cj_hp_relaxed.owl Elevated urine octanedioic acid level 2020-10-12 12:09:07+00:00 peter owl:Class HP:0002235 biolink:NamedThing Pili canaliculi Uncombable hair. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1860608 HP:0002285 human_phenotype owl:Class HP:0040165 biolink:NamedThing Periostitis Inflammation of the periosteum tmpxe7fu0cj_hp_relaxed.owl Periostalgia UMLS:C0031111|MSH:D010522|SNOMEDCT_US:41910004 owl:Class GO:0006541 biolink:NamedThing glutamine metabolic process The chemical reactions and pathways involving glutamine, 2-amino-4-carbamoylbutanoic acid. tmpxe7fu0cj_hp_relaxed.owl glutamine metabolism biological_process owl:Class HP:0011220 biolink:NamedThing Prominent forehead Forward prominence of the entire forehead, due to protrusion of the frontal bone. tmpxe7fu0cj_hp_relaxed.owl Prominent forehead|Protruding forehead|Pronounced forehead|Bulging forehead|Prominence of frontal region UMLS:C1837260|UMLS:C1867446 Not to be confused with frontal bossing. peter 2011-12-07T09:49:36Z HP:0200061 human_phenotype owl:Class HP:0011604 biolink:NamedThing Aortopulmonary window A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0003516|SNOMEDCT_US:17024001|Fyler:0560|MSH:D001028|Fyler:560 peter 2012-04-08T02:52:38Z owl:Class GO:0098645 biolink:NamedThing collagen network A supramolecular complex that consists of collagen triple helices associated to form a network. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0033941 biolink:NamedThing Granulomatous arteriolitis of the arteriolar intima/media A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. tmpxe7fu0cj_hp_relaxed.owl Granulomatous arteriolitis within arteriolar intima/media 2021-06-24 01:48:02+00:00 peter owl:Class UBERON:0012318 biolink:NamedThing anterior ethmoidal artery The anterior ethmoidal artery, also anterior ethmoid artery is an artery of the head. Once branching from the ophthalmic artery, it accompanies the nasociliary nerve through the anterior ethmoidal canal to supply the anterior and middle ethmoidal cells, frontal sinus, and anterosuperior aspect of the lateral nasal wall[WP]. tmpxe7fu0cj_hp_relaxed.owl a. ethmoidalis anterior|anterior meningeal artery|anterior meningeal arteries|arteria ethmoidalis anterior|anterior ethmoid artery FMA:49986 uberon owl:Class HP:0012013 biolink:NamedThing EEG with temporal focal spike waves EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023078 hecht 2012-07-20T12:01:01Z human_phenotype owl:Class UBERON:0006274 biolink:NamedThing tetrapod parietal bone primordium tmpxe7fu0cj_hp_relaxed.owl parietal bone primordium EHDAA2:0001404|EHDAA:9544|FMA:312593|EMAPA:18019 uberon owl:Class UBERON:8400021 biolink:NamedThing liver serosa Hepatic serous coat; peritoneal covering of the liver, enclosing almost all except for a triangular area on its posterior surface (the 'bare area of the liver') and a smaller area where the liver and gallbladder are in direct contact. tmpxe7fu0cj_hp_relaxed.owl tunica serosa hepatis|serosa of liver https://orcid.org/0000-0003-2034-601X uberon owl:Class HP:0040147 biolink:NamedThing L-2-hydroxyglutaric acidemia tmpxe7fu0cj_hp_relaxed.owl UMLS:C3888081 HPO:skoehler owl:Class HP:0500096 biolink:NamedThing Venom-induced anaphylaxis A form of anaphylaxis that is triggered by exposure to venom. tmpxe7fu0cj_hp_relaxed.owl 2018-04-27 20:09:07+00:00 ORCID:0000-0001-7941-2961 owl:Class GO:1902017 biolink:NamedThing regulation of cilium assembly Any process that modulates the frequency, rate or extent of cilium assembly. tmpxe7fu0cj_hp_relaxed.owl regulation of ciliogenesis|regulation of cilium biogenesis dph 2013-03-26T18:10:51Z biological_process owl:Class HP:0006519 biolink:NamedThing Alveolar cell carcinoma Adenocarcinoma of the Bronchus. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:373627005|MSH:D002282|SNOMEDCT_US:36310008|SNOMEDCT_US:112677002|UMLS:C0007120 HP:0006757 human_phenotype owl:Class HP:0025119 biolink:NamedThing Violet lip discoloration An alteration of the color of the lip to take on a violet color. This term does not include cyanosis. tmpxe7fu0cj_hp_relaxed.owl 2016-11-01 11:25:57+00:00 This feature may be seen rarely as a paraneoplastic manifestation. HPO:probinson owl:Class HP:0025118 biolink:NamedThing Lip discoloration Lightening or darkening of the lips from their usual coloring. tmpxe7fu0cj_hp_relaxed.owl 2016-11-01 11:25:02+00:00 HPO:probinson owl:Class HP:0033630 biolink:NamedThing Brain fog Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously. tmpxe7fu0cj_hp_relaxed.owl Mental clouding|Mental fog|Mental fatigue 2021-01-31 18:36:08+00:00 Brain fog has been reported in a range of diseases including myalgic encephalomyelitis/chronic fatigue syndrome, non-celiac gluten disease, postural tachycardia syndrome, lupus, and COVID-19. peter owl:Class HP:0031954 biolink:NamedThing Dystonic gait Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients. tmpxe7fu0cj_hp_relaxed.owl 2018-07-07 13:48:21+00:00 peter owl:Class PR:P41159 biolink:NamedThing leptin (human) A leptin that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl LEP|obese protein (human)|OBS|OB|hLEP|obesity factor (human) UniProtKB:P41159 Category=organism-gene. protein owl:Class GO:0090024 biolink:NamedThing negative regulation of neutrophil chemotaxis Any process that decreases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. tmpxe7fu0cj_hp_relaxed.owl tb 2009-08-03T10:13:09Z biological_process owl:Class HP:0020071 biolink:NamedThing Viremia The presence of virus in the blood. tmpxe7fu0cj_hp_relaxed.owl 2019-01-21 22:33:34+00:00 peter owl:Class HP:0030239 biolink:NamedThing Hypoplasia of the upper arm musculature Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped upper arm muscles UMLS:C4022562 owl:Class HP:0009016 biolink:NamedThing Upper limb muscle hypoplasia Underdevelopment of muscles of the arm. tmpxe7fu0cj_hp_relaxed.owl Underdevelopment of upper limb muscles UMLS:C1846478 human_phenotype owl:Class HP:0025644 biolink:NamedThing Fixation-off epileptiform discharges Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG). tmpxe7fu0cj_hp_relaxed.owl Fixation-off sensitivity HPO:probinson FOS occurs mainly in children who have non-acquired focal epilepsies with occipital epileptiform discharges and in people with generalized epilepsies with photosensitivity such as eyelid myoclonia with absences. It has been observed in people with epilepsies due to structural brain lesions and people without epilepsy who have posterior epileptiform discharges. owl:Class HP:0025507 biolink:NamedThing Yellow papule A papule with yellow color. tmpxe7fu0cj_hp_relaxed.owl Yellow-orange papule 2017-05-14 23:29:49+00:00 The yellow color may be related to lipid accumulation such as xanthomata or sebaceous gland lesions. This term additionally includes lesions described as yellow-orange. HPO:probinson owl:Class HP:0040128 biolink:NamedThing Abnormal sweat electrolytes tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022422 HPO:skoehler owl:Class HP:0040127 biolink:NamedThing Abnormal sweat homeostasis An abnormality of the composition of sweat or the levels of its components. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022423 HPO:skoehler owl:Class CHEBI:35137 biolink:NamedThing hemoprotein Conjugated proteins containing heme as the prosthetic group. tmpxe7fu0cj_hp_relaxed.owl haem protein|Haemoprotein|hemoproteins|haemoprotein|Haemprotein|heme protein|hemeproteins|hemoprotein COMe:PRX000008 chebi_ontology owl:Class HP:0004751 biolink:NamedThing Paroxysmal ventricular tachycardia Episodes of ventricular tachycardia that have a sudden onset and ending. tmpxe7fu0cj_hp_relaxed.owl Episodes of ventricular tachycardia SNOMEDCT_US:66657009|UMLS:C0030591 HP:0005141 human_phenotype owl:Class HP:0200025 biolink:NamedThing Mandibular pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible. tmpxe7fu0cj_hp_relaxed.owl Lower jaw pain UMLS:C0236000|SNOMEDCT_US:274667000 sebastiankohler 2010-06-16T07:33:14Z human_phenotype owl:Class HP:0006228 biolink:NamedThing Valgus hand deformity tmpxe7fu0cj_hp_relaxed.owl UMLS:C1860179 human_phenotype owl:Class HP:0007553 biolink:NamedThing Congenital symmetrical palmoplantar keratosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855459 owl:Class HP:0025248 biolink:NamedThing Eruptive vellus hair cyst A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge. tmpxe7fu0cj_hp_relaxed.owl 2016-12-17 13:52:25+00:00 Eruptive vellus hair cysts result from occlusion and cystic dilation of vellus hair follicles. HPO:probinson owl:Class HP:0030144 biolink:NamedThing Hypoactive bowel sounds An decreased amount of bowel sounds. tmpxe7fu0cj_hp_relaxed.owl Decreased bowel sounds SNOMEDCT_US:15280003|UMLS:C0232695 owl:Class HP:0002000 biolink:NamedThing Short columella Reduced distance from the anterior border of the naris to the subnasale. tmpxe7fu0cj_hp_relaxed.owl Decreased length of columella|Hypoplasia of columella|Columella, short UMLS:C1857479|UMLS:C4280585 This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis. human_phenotype owl:Class HP:0025145 biolink:NamedThing Rigors Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever. tmpxe7fu0cj_hp_relaxed.owl Rigours 2016-11-29 11:15:45+00:00 A sudden attack of severe shivering accompanied by chills (a feeling of coldness) is called a rigor and may be associated with a marked rise in body temperature. Patients often describe rigors as an attack of uncontrollable shaking. Rigors are often a sign of infection, particularly bacterial infection. HPO:probinson owl:Class HP:0025143 biolink:NamedThing Chills A sudden sensation of feeling cold. tmpxe7fu0cj_hp_relaxed.owl Chills 2016-11-29 11:10:01+00:00 The word chills can also refer to an episode of shivering, accompanied by paleness and feeling cold. HPO:probinson owl:Class UBERON:0002379 biolink:NamedThing perineal muscle Any muscle organ that is part of a perineum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl perineal region muscle organ|muscle organ of perineal region|perineum muscle organ|muscle organ of perineum|muscle of perineum UMLS:C0224382|FMA:9623|MA:0000538|EMAPA:36629|NCIT:C33300 uberon owl:Class HP:0030739 biolink:NamedThing Altman type III sacrococcygeal teratoma A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280793 owl:Class HP:0032271 biolink:NamedThing Extrapulmonary tuberculosis A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB. tmpxe7fu0cj_hp_relaxed.owl Extrapulmonary TB 2019-01-27 20:39:11+00:00 Extrapulmonary involvement can be seen in patients with concurrent AIDS and tuberculosis. The risk of extrapulmonary tuberculosis and mycobacteremia increases with advancing immunosuppression. peter owl:Class HP:0004026 biolink:NamedThing Broad radial metaphysis Increase in width (breadth) of the radial metaphysis. tmpxe7fu0cj_hp_relaxed.owl Wide radial metaphysis UMLS:C4021691 human_phenotype owl:Class GO:0006833 biolink:NamedThing water transport tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0003175 biolink:NamedThing Hypoplastic ischia Underdevelopment of the ischium, which forms the lower and back part of the hip bone. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic ischii|Hypoplastic ischium|Hypoplastic ischial bones UMLS:C1859447 human_phenotype owl:Class CL:0000207 biolink:NamedThing olfactory receptor cell tmpxe7fu0cj_hp_relaxed.owl olfactory sensory neuron|odorant receptor cell|olfactory receptor neuron|Schultze's cell FMA:67860|BTO:0004185 cell owl:Class HP:0031939 biolink:NamedThing Conus terminalis arteriovenous malformation tmpxe7fu0cj_hp_relaxed.owl 2018-07-05 13:14:07+00:00 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries with location in the conus terminalis. peter owl:Class HP:0005617 biolink:NamedThing Bilateral camptodactyly tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021830 human_phenotype owl:Class GO:1905292 biolink:NamedThing regulation of neural crest cell differentiation Any process that modulates the frequency, rate or extent of neural crest cell differentiation. tmpxe7fu0cj_hp_relaxed.owl rl 2016-06-28T15:02:01Z biological_process owl:Class HP:0001195 biolink:NamedThing Single umbilical artery Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. tmpxe7fu0cj_hp_relaxed.owl 2 vessel umbilical cord|Two vessel umbilical cord|Two-vessel cord|Two vessel cord|Only one artery in umbilical cord instead of two|2 vessel cord UMLS:C1384670|SNOMEDCT_US:204470001|MSH:D058529 The umbilical cord normally has two arteries and one vein. owl:Class HP:0410186 biolink:NamedThing Increased glucose-6-phosphate dehydrogenase level in tissue An increase in the level of glucose-6-phosphate dehydrogenase in tissue. tmpxe7fu0cj_hp_relaxed.owl Increased G6PD level in tissue 2018-05-21 18:03:24+00:00 owl:Class HP:0031298 biolink:NamedThing Coronary sinus enlargement Abnormal increase in size of the coronary sinus. tmpxe7fu0cj_hp_relaxed.owl Enlarged coronary sinus|Coronary sinus dilatation 2017-08-13 21:47:43+00:00 The coronary sinus is rarely seen on echocardiography in healthy persons. The differential diagnosis of dilated coronary sinus includes right ventricular dysfunction, right atrial hypertension, and anomalous venous drainage into the coronary sinus. peter owl:Class HP:0011401 biolink:NamedThing Delayed peripheral myelination Delayed myelination in the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023374 peter 2012-03-12T08:08:41Z human_phenotype owl:Class GO:1902257 biolink:NamedThing negative regulation of apoptotic process involved in outflow tract morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in outflow tract morphogenesis. tmpxe7fu0cj_hp_relaxed.owl down-regulation of apoptosis involved in outflow tract morphogenesis|down regulation of apoptosis involved in outflow tract morphogenesis|inhibition of apoptotic process involved in outflow tract morphogenesis|negative regulation of apoptosis involved in outflow tract morphogenesis|downregulation of apoptosis involved in outflow tract morphogenesis|inhibition of apoptosis involved in outflow tract morphogenesis|down-regulation of apoptotic process involved in outflow tract morphogenesis|down regulation of apoptotic process involved in outflow tract morphogenesis|downregulation of apoptotic process involved in outflow tract morphogenesis dph 2013-06-24T19:12:30Z biological_process owl:Class HP:0011267 biolink:NamedThing Microtia, third degree Presence of some auricular structures, but none of these structures conform to recognized ear components. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape/structure of ear|Third-degree microtia UMLS:C4280331|UMLS:C4021174 This malformation is commonly associated with atresia of the external canal, but that anomaly should be coded separately. Complete absence of the ear should be coded as Anotia. peter 2011-12-18T07:49:49Z human_phenotype owl:Class GO:0043648 biolink:NamedThing dicarboxylic acid metabolic process The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing two carboxyl (COOH) groups or anions (COO-). tmpxe7fu0cj_hp_relaxed.owl dicarboxylate metabolism|dicarboxylate metabolic process|dicarboxylic acid metabolism biological_process owl:Class HP:0010680 biolink:NamedThing Elevated alkaline phosphatase of renal origin An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated ALP of renal origin UMLS:C4023745 doelkens 2010-03-05T11:09:59Z owl:Class HP:0003020 biolink:NamedThing Enlargement of the wrists tmpxe7fu0cj_hp_relaxed.owl Enlargement of the wrists UMLS:C1838663 human_phenotype owl:Class HP:0012077 biolink:NamedThing Histrionic personality disorder A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:55341008|ICD-10:F60.4|MSH:D006677|UMLS:C0019681 hecht 2012-08-11T02:38:39Z human_phenotype owl:Class HP:0012075 biolink:NamedThing Personality disorder An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder. tmpxe7fu0cj_hp_relaxed.owl ICD-10:F60|MSH:D010554|UMLS:C0031212|SNOMEDCT_US:33449004 A Personality disorder is generally associated with significant problems and limitations in relationships, social encounters, work and school. It is usually manifest since childhood or adolescence and continues throughout adulthood. hecht 2012-08-11T02:20:27Z owl:Class HP:0033233 biolink:NamedThing Paramesangial deposits Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. tmpxe7fu0cj_hp_relaxed.owl 2020-10-31 12:54:34+00:00 May be obsereved with IgA nephropathy. peter owl:Class HP:0003363 biolink:NamedThing Abdominal situs inversus A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen. tmpxe7fu0cj_hp_relaxed.owl Situs inversus visceralis|Situs inversus viscerum UMLS:C0037221|MSH:D012857|SNOMEDCT_US:27317008|Fyler:3816|SNOMEDCT_US:43876007 owl:Class HP:0011331 biolink:NamedThing Hemifacial atrophy Unilateral atrophy of facial tissues, including muscles, bones and skin. tmpxe7fu0cj_hp_relaxed.owl Atrophy of half of face|Facial hemiatrophy|Atrophy of one side of the face SNOMEDCT_US:95834000|UMLS:C0015458|MSH:D005150|SNOMEDCT_US:718224004 peter 2012-02-25T05:04:56Z human_phenotype owl:Class HP:0034076 biolink:NamedThing Anti-ribosome Po antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 02:20:15+00:00 peter owl:Class HP:0006882 biolink:NamedThing Severe hydrocephalus tmpxe7fu0cj_hp_relaxed.owl UMLS:C3278123 owl:Class HP:0001824 biolink:NamedThing Weight loss Reduction of total body weight. tmpxe7fu0cj_hp_relaxed.owl Loss of weight SNOMEDCT_US:262285001|UMLS:C1262477|SNOMEDCT_US:161832001|SNOMEDCT_US:89362005|MSH:D015431 owl:Class HP:4000017 biolink:NamedThing Anti-desmoplakin I antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 14:26:23+00:00 robinp owl:Class GO:0060123 biolink:NamedThing regulation of growth hormone secretion Any process that modulates the frequency, rate or extent of the regulated release of growth hormone from a cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0025150 biolink:NamedThing Hypoganglionosis Sparse and small myenteric ganglia tmpxe7fu0cj_hp_relaxed.owl 2016-12-03 14:28:39+00:00 Enteric ganglia are the nerve cell clusters (groups of nerve cell bodies) that are involved in mediating the muscular activity of the intestines. HPO:probinson owl:Class CL:0010020 biolink:NamedThing cardiac glial cell tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0032698 biolink:NamedThing Focal cognitive seizure with conduction dysphasia/aphasia A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl Conduction dysphasia / aphasia is the inability to repeat speech that is heard, due to failure to encode phonological information, in the setting of intact auditory comprehension (full understanding of what is heard), and fluent speech production (subject to paraphrasic errors). peter owl:Class HP:0040013 biolink:NamedThing Decreased mitochondrial number tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022493 HPO:skoehler owl:Class UBERON:0006646 biolink:NamedThing muscle layer of epididymis A muscle layer that is part of a epididymis. tmpxe7fu0cj_hp_relaxed.owl EMAPA:30747|FMA:19149 uberon owl:Class HP:0012274 biolink:NamedThing Autosomal dominant inheritance with paternal imprinting A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022976 Since the paternally inherited copy of such genes is silenced normally, only a maternally transmitted mutation leads to disease in this kind of inheritance. peter 2013-04-07T02:19:07Z human_phenotype owl:Class GO:0008528 biolink:NamedThing G protein-coupled peptide receptor activity Combining with a peptide and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. tmpxe7fu0cj_hp_relaxed.owl G-protein coupled peptide receptor activity|G protein coupled peptide receptor activity|peptide receptor activity, G protein coupled|peptide receptor activity, G-protein coupled molecular_function owl:Class HP:0020087 biolink:NamedThing BCGosis Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. tmpxe7fu0cj_hp_relaxed.owl Disseminated Bacillus Calmette-Guerin infection|BCGiosis 2019-04-08 17:27:13+00:00 The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis. robinp HP:0031698 owl:Class HP:0012660 biolink:NamedThing Thalamic hypometabolism in FDG PET Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022796 Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the thalamus. peter 2014-02-15T11:35:25Z human_phenotype owl:Class PATO:0001894 biolink:NamedThing phenotypic sex An organismal quality inhering in a bearer by virtue of the bearer's physical expression of sexual characteristics. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0000047 biolink:NamedThing biological sex An organismal quality inhering in a bearer by virtue of the bearer's ability to undergo sexual reproduction in order to differentiate the individuals or types involved. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0005758 biolink:NamedThing Basilar impression Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:86587003|MSH:D010985|UMLS:C0032209 owl:Class HP:0040046 biolink:NamedThing Abnormal left hemidiaphragm morphology tmpxe7fu0cj_hp_relaxed.owl Abnormality of the left hemidiaphragm UMLS:C4022471 HPO:skoehler owl:Class HP:0031076 biolink:NamedThing Impaired cortisol response to insulin stimulation test Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT). tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 23:23:03+00:00 peter owl:Class HP:0004819 biolink:NamedThing Normocytic hypoplastic anemia A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits). tmpxe7fu0cj_hp_relaxed.owl Normocytic hypoplastic anaemia UMLS:C1835875 human_phenotype owl:Class HP:0031590 biolink:NamedThing Asthenopia Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache. tmpxe7fu0cj_hp_relaxed.owl Eye strain 2017-10-14 13:28:32+00:00 peter owl:Class HP:0033387 biolink:NamedThing Elevated circulating pyridinoline concentration An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2021-01-02 13:36:47+00:00 The urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) and hydroxylysyl-pyridinoline (HP, or pyridinoline PYD) are established biochemical markers of osteoclastic bone resorption and collagen degradation. Pyridinolines are formed during fibril formation of type I and type II collagen in the extracellular matrix. Some lysyl- and hydroxylysyl-residues in distinct positions in the collagen triple-helix and in the telopeptides of the tropocollagen are oxidised by lysyl oxidase. Subsequently three of these residues are covalently linked thereby interconnecting tropocollagen molecules and stabilizing the collagen matrix. When bone collagen is degraded, pyridinolines remain as stable degradation products and are secreted with the urine. Depending on whether or not these lysyl residues had been hydroxylated prior to crosslinking, lysyl-pyridinoline (LP) or hydroxylysyl-pyridinoline (HP) is generated. peter owl:Class HP:0033386 biolink:NamedThing Abnormal circulating collagen degradation product concentration Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease. tmpxe7fu0cj_hp_relaxed.owl 2021-01-02 13:34:35+00:00 peter owl:Class HP:0000524 biolink:NamedThing Conjunctival telangiectasia The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva. tmpxe7fu0cj_hp_relaxed.owl Conjunctival telangiectases|Small dilated blood vessels near membrane covering front of eye and eyelids|Telangiectasia, conjunctival UMLS:C0239105|SNOMEDCT_US:231870008 human_phenotype owl:Class HP:0011127 biolink:NamedThing Perioral eczema A type of eczema that occurs in the lips and perioral area. tmpxe7fu0cj_hp_relaxed.owl Eczema around the mouth UMLS:C1396126 Perioral eczema mainly affects children. peter 2011-06-16T07:41:19Z human_phenotype owl:Class HP:0030570 biolink:NamedThing Pinhole visual acuity 0.2 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073043 owl:Class HP:0032684 biolink:NamedThing Focal aware cognitive seizure with auditory agnosia A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0030083 biolink:NamedThing Salt craving An excessive desire to eat salt (sodium chloride) or salty foods. tmpxe7fu0cj_hp_relaxed.owl Salt craving UMLS:C0240928 Salt craving can be a sign of low salt levels, Addison's disease, Gitelman syndrome, and other diseases. owl:Class HP:0100738 biolink:NamedThing Abnormal eating behavior Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption. tmpxe7fu0cj_hp_relaxed.owl Abnormal eating behavior|Abnormal eating behaviour UMLS:C4021982 Note that this HPO term refers to an abnormal eating habit but does not directly refer to an eating disorder, which is a psychological disorder that is characterized by one or more abnormal eating behaviors. doelkens 2011-06-06T05:54:51Z human_phenotype owl:Class HP:0008770 biolink:NamedThing Obsessive-compulsive trait The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. tmpxe7fu0cj_hp_relaxed.owl Obsessive-compulsive trait|Obsessive-compulsive traits UMLS:C1834433 HP:0008761 human_phenotype owl:Class PR:000050060 biolink:NamedThing glucose-6-phosphate dehydrogenase A protein that contains a single copy of the Glucose-6-phosphate dehydrogenase, NAD binding domain (Pfam:PF00479) at or near the N terminus, a single copy of the Glucose-6-phosphate dehydrogenase, C-terminal domain (Pfam:PF02781) at or near the C terminus, and no other domains. tmpxe7fu0cj_hp_relaxed.owl fam:G6PD Category=family. protein owl:Class HP:0033939 biolink:NamedThing Renal arteriole intima/media liquefactive necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. tmpxe7fu0cj_hp_relaxed.owl Liquefactive necrosis of the renal arteriolar intima/media 2021-06-24 01:44:32+00:00 peter owl:Class HP:0033938 biolink:NamedThing Renal arteriole intima/media necrosis Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-24 01:43:41+00:00 peter owl:Class HP:0032293 biolink:NamedThing Monoclonal elevation of IgG heavy chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 22:42:06+00:00 peter owl:Class HP:0032290 biolink:NamedThing Monoclonal elevation of IgG An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 22:37:16+00:00 Monoclonal gammopathies are associated with a clonal process that is malignant or potentially malignant. In contrast, polyclonal gammopathies may be caused by any reactive or inflammatory process, and they usually are associated with nonmalignant conditions. peter owl:Class GO:1901334 biolink:NamedThing lactone metabolic process The chemical reactions and pathways involving lactone. tmpxe7fu0cj_hp_relaxed.owl lactone metabolism bf 2012-09-03T10:26:00Z biological_process owl:Class UBERON:0005410 biolink:NamedThing cartilaginous otic capsule An otic capsule endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl auditory capsule|otic capsule cartilage element EMAPA:18803|EHDAA2:0001333|ZFA:0001500|TAO:0001500|EHDAA:4704|EMAPA:17596|EMAPA:37467 UBERON:0010351 uberon owl:Class Bilaterally paired cartilage encasing the semicircular canals of the inner ear.[TAO] relationship type change: overlaps neurocranium (TAO:0001580) CHANGED TO: part_of neurocranium (UBERON:0001703)[TAO]|relationship type change: overlaps neurocranium (TAO:0001580) CHANGED TO: develops_from neurocranium (UBERON:0001703)[TAO] In elasmobranchs, the otic capsule remains cartilaginous in the adult; in the embryos of higher vertebrates, it is cartilaginous at first but later becomes bony (at approximately 23 weeks in humans). todo - check EMAPA HP:0033025 biolink:NamedThing Chronic absent circulating total IgG A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured. tmpxe7fu0cj_hp_relaxed.owl Chronic (near) absent total IgG in blood peter owl:Class HP:0011820 biolink:NamedThing Membranous choanal atresia Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023174 peter 2012-04-29T01:12:43Z human_phenotype owl:Class HP:0025071 biolink:NamedThing U wave inversion Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves. tmpxe7fu0cj_hp_relaxed.owl 2016-09-26 10:39:43+00:00 Inverted U wave may be a sign of coronary artery disease, hypertension, valvular heart disease, congenital heart disease, cardiomyopathy, or hyperthyroidism. In individuals with acute chest pain, it may be a sign of myocardial ischemia. HPO:probinson owl:Class HP:0031333 biolink:NamedThing Myocardial sarcomeric disarray A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes. tmpxe7fu0cj_hp_relaxed.owl Myocardial sarcomere disarray 2017-08-27 13:11:25+00:00 peter owl:Class HP:0010312 biolink:NamedThing Asymmetry of the breasts The presence of asymmetrical breasts. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1854013|MSH:C565299 peter 2009-07-12T02:32:46Z human_phenotype owl:Class HP:0030821 biolink:NamedThing Hooded lower eyelid Lower eyelid partly covered by skin when eyes are open. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280750 owl:Class HP:0030820 biolink:NamedThing Hooded eyelid Eyelid partly covered by skin when eyes are open. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3277348 owl:Class HP:0012801 biolink:NamedThing Narrow jaw Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective). tmpxe7fu0cj_hp_relaxed.owl Narrow lower face|Narrow mandible|Thin lower jaw|Narrow jaw|Thin lower face|Narrow lower jaw UMLS:C4280310|UMLS:C4021066 The width of the jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. hecht 2014-05-25T02:37:13Z human_phenotype owl:Class HP:0100757 biolink:NamedThing Pancreatoblastoma A rare pediatric carcinoma of the pancreas. tmpxe7fu0cj_hp_relaxed.owl MSH:C537162|SNOMEDCT_US:53618008|UMLS:C0334489 doelkens 2011-06-07T10:05:52Z human_phenotype owl:Class CHEBI:36606 biolink:NamedThing acid anhydride Compounds consisting of two acyl groups bonded to the same oxygen atom acyl-O-acyl. tmpxe7fu0cj_hp_relaxed.owl anhydride d'acide|acid anhydrides|acid anhydride chebi_ontology owl:Class HP:0033039 biolink:NamedThing Increased circulating precipitin level The presence of high titers of antigen-precipitating IgG in the serum. tmpxe7fu0cj_hp_relaxed.owl Increased level of antigen-precipitating IgG antibodies Sensitization to inhaled antigens may cause high titers of antigen-precipitating IgGs. Precipitins support the diagnosis of hypersensitivity pneumonitis, also known as extrinsic allergic, in symptomatic individuals. They may also be found in asymptomatic individuals, indicating exposure to a certain antigen. Major antigens causing hypersensitivity pneumonitis are mushrooms, fungi, yeasts, bird proteins, certains chemicals, bacteria or mycobacteria. peter owl:Class HP:0004423 biolink:NamedThing Cranium bifidum occultum tmpxe7fu0cj_hp_relaxed.owl MSH:C566826|SNOMEDCT_US:718099006|UMLS:C1868598 peter 2008-03-18T09:37:00Z human_phenotype owl:Class HP:0032843 biolink:NamedThing Focal-onset epileptic spasm A type of epileptic spasm of focal onset. tmpxe7fu0cj_hp_relaxed.owl Focal onset epileptic spasm The degree of awareness during the seizure is rarely known. peter owl:Class HP:0041153 biolink:NamedThing Fractured ankle A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot). tmpxe7fu0cj_hp_relaxed.owl bone ankle joint owl:Class HP:0007164 biolink:NamedThing Slowed slurred speech tmpxe7fu0cj_hp_relaxed.owl Slowed slurred speech UMLS:C4024929 human_phenotype owl:Class GO:0002580 biolink:NamedThing regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II Any process that modulates the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. tmpxe7fu0cj_hp_relaxed.owl regulation of peptide or polysaccharide antigen processing and presentation via MHC class II biological_process owl:Class HP:0002410 biolink:NamedThing Aqueductal stenosis Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. tmpxe7fu0cj_hp_relaxed.owl Aqueduct of Sylvius stenosis|Narrowing of aqueduct of Sylvius|Aqueduct stenosis MSH:D006849|UMLS:C2936786 owl:Class HP:0005653 biolink:NamedThing Moderate generalized osteoporosis Moderate osteoporosis. tmpxe7fu0cj_hp_relaxed.owl Moderate generalised osteoporosis UMLS:C4025163 human_phenotype owl:Class CHEBI:36164 biolink:NamedThing amino dicarboxylic acid tmpxe7fu0cj_hp_relaxed.owl amino dicarboxylic acids chebi_ontology owl:Class HP:0001919 biolink:NamedThing Acute kidney injury Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). tmpxe7fu0cj_hp_relaxed.owl Acute kidney failure|Acute renal failure MSH:D058186|SNOMEDCT_US:14669001|SNOMEDCT_US:14350001000004108|UMLS:C0022660|UMLS:C2609414 Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies. human_phenotype owl:Class HP:0000083 biolink:NamedThing Renal insufficiency A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. tmpxe7fu0cj_hp_relaxed.owl Renal failure|Renal failure in adulthood SNOMEDCT_US:236423003|SNOMEDCT_US:42399005|UMLS:C1565489|MSH:D051437|UMLS:C1839604|UMLS:C0035078 HP:0000084|HP:0004723 human_phenotype owl:Class UBERON:0012069 biolink:NamedThing epithelium-associated lymphoid tissue tmpxe7fu0cj_hp_relaxed.owl FMA:62811 uberon owl:Class HP:0032709 biolink:NamedThing Focal aware cognitive seizure with dysgraphia/agraphia A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0006670 biolink:NamedThing Impaired myocardial contractility tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025009 human_phenotype owl:Class HP:0010966 biolink:NamedThing Abnormal circulating fatty-acid anion concentration Any deviation from the normal concentration of a fatty acid anion in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of fatty acid anion UMLS:C4021209 A fatty acid anion is the conjugate base of a fatty acid. peter 2011-01-27T09:17:48Z human_phenotype owl:Class HP:0011496 biolink:NamedThing Corneal neovascularization Ingrowth of new blood vessels into the cornea. tmpxe7fu0cj_hp_relaxed.owl Limbal neovascularization|New blood vessel formation in cornea|Corneal pannus|Corneal vascularization|Corneal neovascularisation SNOMEDCT_US:19161004|UMLS:C0085109|MSH:D016510 New blood vessels, which sprout from the capillaries and venules of the pericorneal plexus, may block light, compromise visual acuity, and lead to inflammation, corneal scarring, and edema. Corneal neovascularization may be a consequence of corneal hypoxia. Neovascular patterns can be separated into three clinical groups: deep neovascularization overlying Descemet's membrane (seen in herpetic and luetic interstitial keratitis), stromal neovascularization (as a result of stromal keratitis), and vascular pannus (from ocular surface disorders). Corneal pannus is subepithelial fibrovascular tissue ingrowth from the limbus onto the cornea that can be observed with corneal neovascularization. peter 2012-04-03T07:15:37Z owl:Class HP:0025303 biolink:NamedThing Episodic Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present. tmpxe7fu0cj_hp_relaxed.owl Now and then 2016-12-21 00:51:43+00:00 In our definition, episodic is synonymous with intermittent and recurrent. The term does not imply any particular temporal pattern of the recurrence. HPO:probinson owl:Class HP:0005967 biolink:NamedThing Mixed respiratory and metabolic acidosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C1840372 human_phenotype owl:Class HP:0006538 biolink:NamedThing Recurrent bronchopulmonary infections An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections. tmpxe7fu0cj_hp_relaxed.owl Recurrent infections in bronchi and lungs UMLS:C2169795 human_phenotype owl:Class HP:0041177 biolink:NamedThing Fractured distal phalanx of manual digit 3 A partial or complete breakage of the distal phalanx of manual digit 3. tmpxe7fu0cj_hp_relaxed.owl bone distal phalanx of manual digit 3 owl:Class HP:0002858 biolink:NamedThing Meningioma The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. tmpxe7fu0cj_hp_relaxed.owl Noncancerous growth of membranes covering brain MSH:D008579|NCIT:C3230|UMLS:C0025286 HP:0006754 human_phenotype owl:Class HP:0034151 biolink:NamedThing Anti-asparaginyl-tRNA synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase. tmpxe7fu0cj_hp_relaxed.owl Anti-KS antibody positivity 2021-12-23 14:05:11+00:00 peter owl:Class HP:0001905 biolink:NamedThing Congenital thrombocytopenia Thrombocytopenia with congenital onset. tmpxe7fu0cj_hp_relaxed.owl thrombocytopenia, congenital UMLS:C0272278 HP:0004869 human_phenotype owl:Class PR:000011178 biolink:NamedThing nuclear factor NF-kappa-B p100 subunit A transcription factor NF-kappa-B subunit that is a translation product of the human NFKB2 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl LYT10|DNA-binding factor KBF2|lyt10|oncogene Lyt-10|H2TF1|NFKB2|lymphocyte translocation chromosome 10 protein|nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 Category=gene. Requested by=CL. protein owl:Class HP:0032967 biolink:NamedThing Panacinar emphysema Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0005767 biolink:NamedThing 1-2 toe complete cutaneous syndactyly tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025140 owl:Class HP:0100657 biolink:NamedThing Thoracoabdominal eventration Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls. tmpxe7fu0cj_hp_relaxed.owl Kelosomia|Celosomia UMLS:C0266682|SNOMEDCT_US:44518003 doelkens 2010-12-30T10:07:54Z human_phenotype owl:Class HP:0100656 biolink:NamedThing Thoracoabdominal wall defect Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development. tmpxe7fu0cj_hp_relaxed.owl Thoracoabdominal schisis UMLS:C4022002 May be accompanied by thoracic ectopia cordis and gastroschisis. doelkens 2010-12-30T10:04:18Z human_phenotype owl:Class UBERON:0037237 biolink:NamedThing wall of lacrimal duct tmpxe7fu0cj_hp_relaxed.owl lacrimal ductal wall FMA:85375 uberon owl:Class HP:0000049 biolink:NamedThing Shawl scrotum Superior margin of the scrotum superior to the base of the penis. tmpxe7fu0cj_hp_relaxed.owl Scrotum surrounds penis|Overriding scrotum UMLS:C1858539 A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead. human_phenotype owl:Class HP:0000154 biolink:NamedThing Wide mouth Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). tmpxe7fu0cj_hp_relaxed.owl Broad mouth|Wide mouth|Large mouth|Macrostomia|Large oral aperture UMLS:C0024433|MSH:D008265|SNOMEDCT_US:40159009 The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft. HP:0002052|HP:0000181 human_phenotype owl:Class HP:0003454 biolink:NamedThing Platelet antibody positive The presence in the serum of autoantibodies directed against thrombocytes. tmpxe7fu0cj_hp_relaxed.owl Platelet antibody UMLS:C1858980 owl:Class HP:0001326 biolink:NamedThing EEG with irregular generalized spike and wave complexes EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency. tmpxe7fu0cj_hp_relaxed.owl EEG with irregular generalised spike and wave complexes UMLS:C4025792 human_phenotype owl:Class HP:0030733 biolink:NamedThing Vesicoallantoic abdominal wall defect An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280796 owl:Class NBO:0000338 biolink:NamedThing kinesthetic behavior "Movement behavior of the body or its parts." tmpxe7fu0cj_hp_relaxed.owl 2011-04-05T02:08:47Z George Gkoutos behavior_ontology owl:Class GO:0099124 biolink:NamedThing axonal dopamine secretion The regulated release of dopamine from an axon. tmpxe7fu0cj_hp_relaxed.owl axonal dopamine release|axonal DA release biological_process owl:Class HP:0031091 biolink:NamedThing Toe dactylitis Toes appear swollen and plump owing to inflammation of the complete toe. tmpxe7fu0cj_hp_relaxed.owl Sausage toes 2017-05-29 01:00:10+00:00 peter owl:Class HP:0100503 biolink:NamedThing Low levels of vitamin B1 A reduced concentration of vitamin B1. tmpxe7fu0cj_hp_relaxed.owl Vitamin B1 deficiency|Reduced blood thiamine level MSH:D013832|SNOMEDCT_US:399357009|UMLS:C0039841 doelkens 2010-12-17T06:13:04Z human_phenotype owl:Class CHEBI:142567 biolink:NamedThing alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp-yl group A trisaccharide beta-D-glucosyl group obtained by removal of the hydroxy group from the hemiacetal function of alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucose. Part of, and the proposed epitope from, alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide (globoside Gb3Cer; globotriosylceramide; CTH). tmpxe7fu0cj_hp_relaxed.owl alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-D-Glc-yl|Galalpha1-4Galbeta1-4Glcbeta-R|Galalpha1-4Galbeta1-4Glcbeta-yl|alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl|alpha-D-galactopyranosyl-(1->4)-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl|Gala1-4Galb1-4Glcb-yl 0 C18H31O15 487.430 487.16630 [C@@H]1([C@@H]([C@H]([C@@H]([C@H](O1)CO)O[C@H]2[C@@H]([C@H]([C@H]([C@H](O2)CO)O[C@@H]3[C@@H]([C@H]([C@H]([C@H](O3)CO)O)O)O)O)O)O)O)* PMID:7691279|PMID:33643275 chebi_ontology owl:Class HP:0034065 biolink:NamedThing Anti-Zinc transporter 8 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8. tmpxe7fu0cj_hp_relaxed.owl Anti ZnT8 autoantibodies 2021-12-18 14:20:26+00:00 peter owl:Class HP:0033722 biolink:NamedThing Autonomic epileptic aura An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region. tmpxe7fu0cj_hp_relaxed.owl Autonomic auras|Vegetative aura|Autonomic aura 2021-04-07 13:09:47+00:00 As an aura, its manifestation is purely subjective, conversely the initial manifestation of a focal autonomic seizure (HP:0011154) may be objective (a physical sign) or subjective (a symptom). Consider the following additional more specific annotations: types of 'focal aware autonomic seizure' (HP:0032740) if the aura occurs as the sole manifestation of the seizure, types of 'focal impaired awareness autonomic seizure' (HP:0032755) if the seizure progresses with impairment of awareness, and 'bilateral tonic-clonic seizure with focal onset' (HP:0007334) if the seizure propagates into a bilateral tonic-clonic seizure. peter owl:Class HP:0032216 biolink:NamedThing Lymphocytic infiltration of the colorectal mucosa Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy. tmpxe7fu0cj_hp_relaxed.owl 2019-01-21 00:37:22+00:00 peter owl:Class HP:0025090 biolink:NamedThing Abnormal large intestinal mucosa morphology A structural anomaly of the mucous lining of the large intestine. tmpxe7fu0cj_hp_relaxed.owl 2016-10-24 00:55:54+00:00 HPO:probinson owl:Class HP:0410274 biolink:NamedThing Paraspinal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine. tmpxe7fu0cj_hp_relaxed.owl 2018-10-30 02:21:30+00:00 owl:Class HP:0032355 biolink:NamedThing Decreased peak expiratory flow A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways. tmpxe7fu0cj_hp_relaxed.owl 2019-02-23 16:59:55+00:00 peter owl:Class HP:4000014 biolink:NamedThing Anti-desmoglein-3 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 14:22:03+00:00 robinp owl:Class HP:0002367 biolink:NamedThing Visual hallucinations Visual perceptions that are not elicited by a corresponding stimulus from the outside world. tmpxe7fu0cj_hp_relaxed.owl Visual hallucinations MSH:D006212|SNOMEDCT_US:64269007|UMLS:C0233763 owl:Class HP:0030609 biolink:NamedThing Photoreceptor layer loss on macular OCT Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073079 owl:Class HP:0025331 biolink:NamedThing Upgaze palsy A limitation of the ability to direct one's gaze above the horizontal meridian. tmpxe7fu0cj_hp_relaxed.owl Upgaze paresis|Supranuclear upgaze palsy 2017-02-11 11:54:20+00:00 HPO:probinson owl:Class HP:0000511 biolink:NamedThing Vertical supranuclear gaze palsy A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. tmpxe7fu0cj_hp_relaxed.owl Vertical gaze palsy UMLS:C0339652|UMLS:C1843369|SNOMEDCT_US:246773002 Vertical gaze palsies can manifest as selective limitation of upgaze or downgaze. owl:Class HP:0025548 biolink:NamedThing Increased mean corpuscular hemoglobin concentration An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). tmpxe7fu0cj_hp_relaxed.owl Increased mean corpuscular haemoglobin|Increased mean corpuscular Hb concentration|Increased MCH|Increased MCHC|Increased mean corpuscular haemoglobin concentration 2017-07-09 12:29:45+00:00 HPO:probinson owl:Class HP:0005548 biolink:NamedThing Megakaryocytopenia A reduced count of megakaryocytes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1858312 Megakaryocytes are giant cells in the bone marrow. Mature blood platelets are released from the cytoplasm of megakaryocytes. human_phenotype owl:Class HP:0010823 biolink:NamedThing Ridged cranial sutures An overlap of the bony plates of the skull in an infant, with or without early closure. tmpxe7fu0cj_hp_relaxed.owl Cranial suture ridges UMLS:C4023692 peter 2010-07-10T03:46:25Z human_phenotype owl:Class HP:0011681 biolink:NamedThing Subarterial ventricular septal defect A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum. tmpxe7fu0cj_hp_relaxed.owl Supracristal ventricular septal defect|Type 1 ventricular septal defect|Conal ventricular septal defect|Doubly committed ventricular septal defect|Infundibular ventricular septal defect UMLS:C3165130|SNOMEDCT_US:448876006|Fyler:1330 peter 2012-04-10T08:09:32Z human_phenotype owl:Class HP:0011759 biolink:NamedThing Pituitary gonadotropic cell adenoma A type of pituitary adenoma that produces gonadotropins. tmpxe7fu0cj_hp_relaxed.owl Pituitary gonadotropinoma UMLS:C4021122 peter 2012-04-22T03:37:35Z human_phenotype owl:Class HP:0005338 biolink:NamedThing Sparse lateral eyebrow Decreased density/number and/or decreased diameter of lateral eyebrow hairs. tmpxe7fu0cj_hp_relaxed.owl Sparse lateral eyebrows|Laterally sparse eyebrows|Lateral thinning of eyebrows|Limited hair on end of eyebrow|Laterally sparse eyebrow|Lateral hypoplasia of eyebrows UMLS:C1857206 Abnormal sparseness of the eyebrows laterally. HP:0004521|HP:0009923 owl:Class HP:0030909 biolink:NamedThing Anti-liver cytosolic antigen type 1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction. tmpxe7fu0cj_hp_relaxed.owl Anti-liver cytosol antibody-1 positivity These autoantibodies may be observed in a subset of persons with autoimmune hepatitis. owl:Class HP:0031856 biolink:NamedThing Hobby horse gait An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 18:27:42+00:00 peter owl:Class UBERON:0009618 biolink:NamedThing trunk paraxial mesoderm tmpxe7fu0cj_hp_relaxed.owl trunk and cervical paraxial mesenchyme|trunk paraxial mesenchyme EHDAA2:0002094 uberon owl:Class HP:0003329 biolink:NamedThing Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025631 human_phenotype owl:Class HP:0002038 biolink:NamedThing Protein avoidance tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839531 human_phenotype owl:Class HP:0033657 biolink:NamedThing Linear atelectasis Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm. tmpxe7fu0cj_hp_relaxed.owl Discoid atelectasis|Platelike atelectasis 2021-02-24 13:50:10+00:00 See Figure 33 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0033814 biolink:NamedThing Paraseptal Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:08:03+00:00 peter owl:Class HP:0010822 biolink:NamedThing Scintillating scotoma A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights. tmpxe7fu0cj_hp_relaxed.owl MSH:D012607|SNOMEDCT_US:2228002|UMLS:C0235068 peter 2010-07-10T03:35:29Z human_phenotype owl:Class HP:0012335 biolink:NamedThing Abnormality of folate metabolism An abnormality of the metabolism of folic acid, which is also known as vitamin B9. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022951 peter 2013-09-13T08:38:06Z human_phenotype owl:Class PATO:0002283 biolink:NamedThing decreased mobility A mobility which is relative low. tmpxe7fu0cj_hp_relaxed.owl 2011-03-09T09:16:47Z quality owl:Class HP:0012806 biolink:NamedThing Proboscis A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0687082 A proboscis has a single cavity. It may be found in association with a malformed nose and absence of one or both nares. hecht 2014-05-25T05:46:42Z human_phenotype owl:Class HP:0012645 biolink:NamedThing Enlarged peripheral nerve Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. tmpxe7fu0cj_hp_relaxed.owl Enlarged peripheral nerves UMLS:C2675074 This feature can be appreciated by imaging studies (magnetic resonancy tomography), by palpation along the axis of a nerve, and by biopsy, and may be caused by axonal swelling or by myelin thickening. The differential diagnosis of enlarged peripheral nerves includes leprosy, hereditary motor and sensory neuropathy type 1 (about 30% of patients), but not type 2 (the axonal form), some other polyneuropathies, neurofibromatosis, and nerve tumors. A good review is available in Practical Neurology, 2003,3:40-45 by Michael Donaghy (no pubmed id). peter 2014-02-01T12:44:16Z human_phenotype owl:Class HP:0005722 biolink:NamedThing Hyperextensible thumb The ability of the thumb joints to move beyond their normal range of motion. tmpxe7fu0cj_hp_relaxed.owl Double jointed thumb UMLS:C4025148 human_phenotype owl:Class HP:0007721 biolink:NamedThing Saccular conjunctival dilatations Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva. tmpxe7fu0cj_hp_relaxed.owl Saccular conjunctival aneurysms UMLS:C3277464 human_phenotype owl:Class UBERON:0011956 biolink:NamedThing right hepatic vein A hepatic vein that is part of a right lobe of liver. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37377|MA:0003034|FMA:14338 uberon owl:Class HP:0025336 biolink:NamedThing Delayed ability to sit A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. tmpxe7fu0cj_hp_relaxed.owl 2017-02-12 12:04:58+00:00 This milestone can be defined as the ability of an infant to sit up straight with head erect for at least 10 s without using arms or hands to balance body or support the position. HPO:probinson owl:Class NBO:0000444 biolink:NamedThing eye movement tmpxe7fu0cj_hp_relaxed.owl 2011-04-08T12:22:02Z George Gkoutos behavior_ontology owl:Class HP:0012657 biolink:NamedThing Abnormal brain positron emission tomography A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain. tmpxe7fu0cj_hp_relaxed.owl Abnormal brain PET scan UMLS:C4022799 Note that while structural brain anomalies can cause abnormal brain PET scan results, structural abnormalities are detectable by multiple neuroimaging modalities and should be coded using terms from the hierarchy under 'Abnormality of nervous system morphology' (HP:0012639). peter 2014-02-15T11:22:18Z human_phenotype owl:Class HP:0007565 biolink:NamedThing Multiple cafe-au-lait spots The presence of six or more cafe-au-lait spots. tmpxe7fu0cj_hp_relaxed.owl Multiple flat light-brown marks on skin|Multiple birthmarks MSH:C537421|UMLS:C1861975 HP:0007416 human_phenotype owl:Class HP:0011833 biolink:NamedThing Overhanging nasal tip Positioning of the nasal tip inferior to the nasal base. tmpxe7fu0cj_hp_relaxed.owl Nasal tip, overhanging|Drooping nasal tip|Low hanging nasal tip|Overhanging nasal tip|Hooked tip of nose SNOMEDCT_US:249328007|UMLS:C0426430 This finding is often associated with a long nasal ridge. It is best appreciated in profile. This may also coexist with a Depressed nasal tip and Low insertion of the columella and should be coded separately. peter 2012-05-01T07:42:15Z human_phenotype owl:Class HP:0025639 biolink:NamedThing Increased urinary zinc level An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection. tmpxe7fu0cj_hp_relaxed.owl 2019-04-26 18:12:28+00:00 HPO:probinson owl:Class HP:0030270 biolink:NamedThing Elevated red cell adenosine deaminase level Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022547 owl:Class UBERON:0005902 biolink:NamedThing occipital region Anatomical cluster that is located in the posterior region of the cranium and forms the margin of the foramen magnum and occipital condyles. tmpxe7fu0cj_hp_relaxed.owl occipital region of head|basicranial region|occipital part of head|back of head TAO:0001414|FMA:49187|ZFA:0001414|XAO:0003173|BTO:0004675|AAO:0010199|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2431|SCTID:362618001 TODO - check uberon owl:Class An anatomical cluster that is located in the posterior region of the neurocranium and forms the margin of the foramen margin and occipital condyles.[AAO]|Anatomical cluster that is located in the posterior region of the cranium and forms the margin of the foramen magnum and occiptal condyle.[TAO] HP:0010034 biolink:NamedThing Short 1st metacarpal A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. tmpxe7fu0cj_hp_relaxed.owl First metacarpals hypoplastic|First metacarpal hypoplasia|Shortened 1st long bone of hand|Short first metacarpal|Hypoplastic 1st metacarpal|Short first metacarpals UMLS:C1849311 In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. doelkens 2009-05-27T04:24:50Z HP:0006141|HP:0001499|HP:0001190|HP:0005898 human_phenotype owl:Class HP:0034107 biolink:NamedThing Anti-p53 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 15:09:34+00:00 peter owl:Class CHEBI:26361 biolink:NamedThing protoporphyrins tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0030365 biolink:NamedThing Vaginal birth after Caesarian Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally. tmpxe7fu0cj_hp_relaxed.owl MSH:D016064|UMLS:C0080301 owl:Class HP:0032794 biolink:NamedThing Myoclonic seizure A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. tmpxe7fu0cj_hp_relaxed.owl This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding myoclonic seizures when the onset is not known. peter owl:Class GO:0090289 biolink:NamedThing regulation of osteoclast proliferation Any process that modulates the rate, frequency, or extent of the multiplication or reproduction of osteoclasts, resulting in the expansion of an osteoclast cell population. tmpxe7fu0cj_hp_relaxed.owl tb 2010-02-18T03:11:03Z biological_process owl:Class UBERON:0004611 biolink:NamedThing rib 12 In humans: The twelfth rib has a single articular facet on the head, which is of rather large size. It has no necks or tubercles, and is pointed at its anterior ends. The twelfth has angle nor costal groove; it is much shorter than the eleventh rib, and its head is inclined slightly downward. Sometimes the twelfth rib is even shorter than the first rib. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl twelfth rib|costa XII UMLS:C1709948|NCIT:C52767|EMAPA:19540|FMA:8515|MA:0001412 elements are to be defined spatially/topologically http://upload.wikimedia.org/wikipedia/commons/f/fe/Gray128.png uberon owl:Class 12 CHEBI:15339 biolink:NamedThing acceptor A molecular entity that can accept an electron, a pair of electrons, an atom or a group from another molecular entity. tmpxe7fu0cj_hp_relaxed.owl Akzeptor|A|Oxidized donor|Acceptor|accepteur|Hydrogen-acceptor KEGG:C00028|KEGG:C16722 CHEBI:2377|CHEBI:13699 chebi_ontology owl:Class HP:0007667 biolink:NamedThing Peripheral cystoid retinal degeneration Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly. tmpxe7fu0cj_hp_relaxed.owl Peripheral cystoid degeneration|Cystic retinal degeneration UMLS:C1839362 human_phenotype owl:Class HP:0025287 biolink:NamedThing Axial Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs. tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 15:34:25+00:00 HPO:probinson owl:Class PR:000011649 biolink:NamedThing 5-oxoprolinase A protein that is a translation product of the human OPLAH gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl 5-OPase|OPLAH|5-oxo-L-prolinase|pyroglutamase Category=gene. protein owl:Class GO:0033002 biolink:NamedThing muscle cell proliferation The expansion of a muscle cell population by cell division. tmpxe7fu0cj_hp_relaxed.owl myocyte proliferation biological_process owl:Class HP:0009521 biolink:NamedThing Small epiphysis of the middle phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Small end part of the innermost long bone of index finger UMLS:C4024312 doelkens 2009-01-16T01:12:17Z human_phenotype owl:Class HP:0008691 biolink:NamedThing Solitary bladder diverticulum Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024639 human_phenotype owl:Class HP:0040315 biolink:NamedThing Tongue edema An abnormal accumulation of fluid and swelling in the tongue. tmpxe7fu0cj_hp_relaxed.owl Tongue oedema owl:Class UBERON:0010294 biolink:NamedThing scleral endothelium An endothelium that is part of a sclera. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0002179 biolink:NamedThing Opisthotonus tmpxe7fu0cj_hp_relaxed.owl Opisthotonos UMLS:C0151818|SNOMEDCT_US:8652009 Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. human_phenotype owl:Class HP:0100558 biolink:NamedThing Hemiatrophy of upper limb Unilateral atrophy (reduction in size) of an arm. tmpxe7fu0cj_hp_relaxed.owl Asymmetric upper limb shortening|Hemihypotrophy of upper limb UMLS:C0431814|SNOMEDCT_US:253921005 doelkens 2010-12-21T04:01:48Z HP:0200052 human_phenotype owl:Class UBERON:0003955 biolink:NamedThing molar crown The part of a molar that is covered by enamel. tmpxe7fu0cj_hp_relaxed.owl crown of molar tooth|tooth crown of molar tooth|molar tooth tooth crown|molar tooth crown EMAPA:37910|FMA:85301 uberon owl:Class HP:0008504 biolink:NamedThing Moderate sensorineural hearing impairment The presence of a moderate form of sensorineural hearing impairment. tmpxe7fu0cj_hp_relaxed.owl Moderate neural deafness UMLS:C4020798|UMLS:C4024664 human_phenotype owl:Class HP:0031307 biolink:NamedThing Internal carotid artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery. tmpxe7fu0cj_hp_relaxed.owl 2017-08-26 21:32:35+00:00 peter owl:Class UBERON:0004936 biolink:NamedThing submucosa of pyloric antrum A submucosa that is part of a pyloric antrum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pyloric antrum submucosa|antrum of stomach submucosa|submucosa of antrum of stomach|submucosa of stomach pyloric antrum|stomach pyloric antrum submucosa FMA:17060 uberon owl:Class UBERON:0004937 biolink:NamedThing submucosa of pylorus A submucosa that is part of a pylorus [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl pyloric submucosa|pyloric part of stomach submucosa|stomach pyloric region submucosa|submucosa of stomach pyloric region|submucosa of pyloric part of stomach|pylorus submucosa FMA:17462|EMAPA:27201 uberon owl:Class HP:0030647 biolink:NamedThing Paracentral tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073110 owl:Class HP:0032638 biolink:NamedThing Elevated urine mevalonic acid An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid. tmpxe7fu0cj_hp_relaxed.owl Elevated urine mevalonate|Elevated urine mevalonate levels|Mevalonate aciduria peter owl:Class NCBITaxon:38254 biolink:NamedThing Glaucocystophyceae tmpxe7fu0cj_hp_relaxed.owl glaucocystophytes|Glaucophyta|Glaucophyceae|algae GC_ID:1 ncbi_taxonomy owl:Class HP:0008478 biolink:NamedThing Scheuermann-like vertebral changes tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844926 human_phenotype owl:Class HP:0001952 biolink:NamedThing Glucose intolerance Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). tmpxe7fu0cj_hp_relaxed.owl Glucose intolerance|Abnormal glucose tolerance UMLS:C0235401 HP:0000833 owl:Class HP:0006099 biolink:NamedThing Metacarpophalangeal joint hyperextensibility Increased mobility of one ore more metacarpophalangeal joint. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025092 human_phenotype owl:Class HP:0030028 biolink:NamedThing Absent nasal cartilage Lack of a palpable nasal cartilage. tmpxe7fu0cj_hp_relaxed.owl Missing cartilage of nose|Missing nasal cartilage|Absent nasal cartilage|Agenesis of cartilage of nose|Absent cartilage of nose|Failure of development of nasal cartilage|Failure of development of cartilage of nose|Agenesis of nasal cartilage SNOMEDCT_US:232381002|UMLS:C4022669|UMLS:C4082198|MSH:C562753 This feature may be accompanied by a deficiency of the nasal bone. Absence of the nasal cartilage may lead to a Depressed nasal tip, which should be coded separately. owl:Class UBERON:0014674 biolink:NamedThing distal interphalangeal joint of pedal digit 4 tmpxe7fu0cj_hp_relaxed.owl distal interphalangeal joint of fourth toe|distal interphalangeal joint of pedal digit IV|distal interphalangeal joint of fourth digit of foot FMA:35387 uberon owl:Class HP:0005310 biolink:NamedThing Large vessel vasculitis A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025218 human_phenotype owl:Class HP:0005446 biolink:NamedThing Obtuse angle of mandible Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal. tmpxe7fu0cj_hp_relaxed.owl Steep mandibular plane angle|High mandibular plane angle UMLS:C4038738|SNOMEDCT_US:709997007 See PMID:17213440 Figure 1G for an example of an obtuse mandibular angle. human_phenotype owl:Class HP:0010440 biolink:NamedThing Ectopic accesory toe-like appendage In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023826 doelkens 2009-07-29T01:23:02Z human_phenotype owl:Class HP:0011529 biolink:NamedThing Multiple bilateral congenital hypertrophy of retinal pigment epithelium Sharply demarcated hyperpigmentation which is congenital. tmpxe7fu0cj_hp_relaxed.owl Multiple bilateral CHRPE UMLS:C4021144 Bilateral multiple CHRPE is strongly associated with familial adenomatous polyposis coli. peter 2012-04-06T09:25:33Z human_phenotype owl:Class HP:0034104 biolink:NamedThing Anti-neutrophil elastase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 15:02:21+00:00 peter owl:Class HP:0033063 biolink:NamedThing Shortened sleep cycle A tendency to sleep less hours than usual while feeling well rested. tmpxe7fu0cj_hp_relaxed.owl Short sleep peter owl:Class HP:0020036 biolink:NamedThing Upper limb dysmetria A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm. tmpxe7fu0cj_hp_relaxed.owl 2017-10-13 12:28:26+00:00 robinp owl:Class HP:0031885 biolink:NamedThing Hyperglycorrhachia Abnormally high glucose concentration in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Increased CSF glucose 2018-05-13 13:55:26+00:00 peter owl:Class HP:0001492 biolink:NamedThing Axenfeld anomaly Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0266548|MSH:C535679|SNOMEDCT_US:204152008 human_phenotype owl:Class HP:0031173 biolink:NamedThing Tibial spur A bony projection (spur, osteophyte) originating from the tibia. tmpxe7fu0cj_hp_relaxed.owl Spurring of tibiae 2017-06-18 20:06:57+00:00 peter owl:Class HP:0025528 biolink:NamedThing Annular cutaneous lesion A lesion of the skin with a ring-like distribution. tmpxe7fu0cj_hp_relaxed.owl 2017-05-18 00:14:03+00:00 HPO:probinson owl:Class HP:0010631 biolink:NamedThing Abnormality of the epiphyses of the feet Any abnormality of the epiphyses of the feet. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the foot bone UMLS:C4023769 peter 2009-12-06T06:00:04Z human_phenotype owl:Class HP:0010465 biolink:NamedThing Precocious puberty in females The onset of puberty before the age of 8 years in girls. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0271616|SNOMEDCT_US:19911007 peter 2009-09-15T08:48:42Z human_phenotype owl:Class HP:0000826 biolink:NamedThing Precocious puberty The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. tmpxe7fu0cj_hp_relaxed.owl Early onset of puberty|Early puberty UMLS:C0034013|MSH:D011629|SNOMEDCT_US:123527003|SNOMEDCT_US:400179000 human_phenotype owl:Class GO:0000052 biolink:NamedThing citrulline metabolic process The chemical reactions and pathways involving citrulline, N5-carbamoyl-L-ornithine, an alpha amino acid not found in proteins. tmpxe7fu0cj_hp_relaxed.owl citrulline metabolism biological_process owl:Class HP:0032320 biolink:NamedThing Affected This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband). tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 11:47:51+00:00 peter owl:Class HP:0031721 biolink:NamedThing Sensory exotropia A type of divergent strabismus (exotropia) that develops in a poorly seeing eye. tmpxe7fu0cj_hp_relaxed.owl Secondary exotropia 2018-01-13 14:03:40+00:00 peter owl:Class HP:0011191 biolink:NamedThing Unilateral multifocal epileptiform discharges Epileptiform discharges being identified at multiple locations in one hemisphere. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023483 hecht 2011-11-19T10:48:51Z human_phenotype owl:Class HP:0030975 biolink:NamedThing Pontine tegmental cap An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle. tmpxe7fu0cj_hp_relaxed.owl Vaulted pontine tegmentum 2017-04-28 14:09:05+00:00 robinp owl:Class HP:0100747 biolink:NamedThing Macrodactyly of toe A type of Macrodactyly affecting one or several toes. tmpxe7fu0cj_hp_relaxed.owl Foot macrodactyly UMLS:C2931596|MSH:C537719 doelkens 2011-06-06T06:29:55Z human_phenotype owl:Class HP:0009686 biolink:NamedThing Absent epiphyses of the thumb Absence of one or more epiphyses of the thumb. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024233 doelkens 2009-01-30T09:20:16Z human_phenotype owl:Class HP:0005733 biolink:NamedThing Spinal stenosis with reduced interpedicular distance An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging). tmpxe7fu0cj_hp_relaxed.owl Spinal stenosis due to short pedicles UMLS:C4021625 The pedicles are two short, thick processes that connect the body of the vertebrae to the arch. HP:0004597 human_phenotype owl:Class HP:0012411 biolink:NamedThing Premature pubarche The onset of growth of pubic hair at an earlier age than normal. tmpxe7fu0cj_hp_relaxed.owl Premature pubic hair growth UMLS:C0342541|SNOMEDCT_US:237815000 peter 2013-11-10T11:50:16Z human_phenotype owl:Class UBERON:0004850 biolink:NamedThing lymph node endothelium An endothelium that is part of a lymph node [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl endothelium of lymph node MA:0000741|EMAPA:35526 uberon owl:Class HP:5000041 biolink:NamedThing Anti-CRMP5 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against collapsin response-mediated protein 5 (CRMP5). tmpxe7fu0cj_hp_relaxed.owl Anti-collapsin response-mediated protein 5 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0033820 biolink:NamedThing Apical Applies to an abnormality whose distribution and appearance are located at the apex of an organ. For instance, apical refers to the superior portion of the lung. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:20:29+00:00 peter owl:Class HP:0033022 biolink:NamedThing Chronic decreased circulating IgE A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood. tmpxe7fu0cj_hp_relaxed.owl Chronic decreased IgE in blood peter owl:Class HP:0012646 biolink:NamedThing Retractile testis A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex. tmpxe7fu0cj_hp_relaxed.owl Retractile testicle UMLS:C0520578|SNOMEDCT_US:21779006 peter 2014-02-01T12:57:41Z human_phenotype owl:Class HP:0004891 biolink:NamedThing Recurrent infections due to aspiration Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3806285 human_phenotype owl:Class PR:P56528 biolink:NamedThing ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 (mouse) An ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl 2'-phospho-cyclic-ADP-ribose transferase (mouse)|CD38 (mouse)|mCD38|2'-phospho-ADP-ribosyl cyclase (mouse)|I-19 (mouse)|Cd38|ADPRC 1 (mouse)|cyclic ADP-ribose hydrolase 1 (mouse)|2'-phospho-ADP-ribosyl cyclase/2'-phospho-cyclic-ADP-ribose transferase (mouse)|NIM-R5 antigen (mouse)|ADP-ribosyl cyclase 1 (mouse)|cADPr hydrolase 1 (mouse) UniProtKB:P56528 Category=organism-gene. protein owl:Class HP:0007141 biolink:NamedThing Sensorimotor neuropathy tmpxe7fu0cj_hp_relaxed.owl Nerve damage causing decreased feeling and movement|Sensorimotor peripheral neuropathy|Mixed polyneuropathy UMLS:C1112256 HP:0007237|HP:0007055 owl:Class HP:0040196 biolink:NamedThing Mild microcephaly Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD). tmpxe7fu0cj_hp_relaxed.owl UMLS:C1836806 owl:Class HP:0100305 biolink:NamedThing Ring fibers Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation. tmpxe7fu0cj_hp_relaxed.owl Ring fibres UMLS:C0333770|SNOMEDCT_US:47913008 doelkens 2010-08-10T02:41:11Z owl:Class HP:0009400 biolink:NamedThing Pseudoepiphyses of the 4th finger A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024390 doelkens 2009-01-13T01:59:12Z human_phenotype owl:Class CHEBI:27325 biolink:NamedThing xanthophyll tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0011850 biolink:NamedThing acinus of salivary gland An acinus that is part of a salivary gland. tmpxe7fu0cj_hp_relaxed.owl salivary gland acinus FMA:59870 uberon owl:Class GO:0030397 biolink:NamedThing membrane disassembly The controlled breakdown of any cell membrane in the context of a normal process such as autophagy. tmpxe7fu0cj_hp_relaxed.owl membrane catabolism|membrane breakdown|membrane degradation biological_process owl:Class HP:0033479 biolink:NamedThing Abnormal circulating bilirubin concentration tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 23:02:44+00:00 peter owl:Class HP:0010995 biolink:NamedThing Abnormal circulating dicarboxylic acid concentration Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023606 A dicarboxylic acid is an oxoacid containing two carboxy groups. peter 2011-02-10T02:01:02Z owl:Class HP:0034046 biolink:NamedThing Mandibular osteolysis Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible. tmpxe7fu0cj_hp_relaxed.owl 2021-10-19 16:42:11+00:00 peter owl:Class PATO:0000688 biolink:NamedThing asynchronous A quality of a single process inhering in a bearer by virtue of the bearer's not occurring or existing at the same time or having the same period or phase. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0025057 biolink:NamedThing Abnormality of olfactory lobe morphology A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell. tmpxe7fu0cj_hp_relaxed.owl 2016-09-26 09:03:16+00:00 HPO:probinson owl:Class HP:0004286 biolink:NamedThing Patchy sclerosis of hand bones tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in hand bones UMLS:C4025370 human_phenotype owl:Class HP:0025529 biolink:NamedThing Hyperpigmented nodule A nodule of the skin that exhibits an increased amount of pigmentation. tmpxe7fu0cj_hp_relaxed.owl 2017-05-18 00:19:15+00:00 HPO:probinson owl:Class HP:0012538 biolink:NamedThing Gluten intolerance A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease. tmpxe7fu0cj_hp_relaxed.owl Gluten sensitivity|Gluten intolerance UMLS:C0850024|UMLS:C0007570|SNOMEDCT_US:396331005|SNOMEDCT_US:441831003|MSH:D002446 peter 2013-12-15T10:31:34Z human_phenotype owl:Class HP:0001984 biolink:NamedThing Intolerance to protein tmpxe7fu0cj_hp_relaxed.owl UMLS:C1396243 human_phenotype owl:Class HP:0032870 biolink:NamedThing Focal impaired awareness cognitive seizure with dyslexia/alexia A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class PATO:0001402 biolink:NamedThing multipotent A cellular potency that is the capacity to form multiple differentiated cell types. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0003955 biolink:NamedThing Bone-in-a-bone appearance of forearm A descriptive term for a forearm bone that appears to have an additional bone within it on radiography. tmpxe7fu0cj_hp_relaxed.owl Bone-in-a-bone appearance of forearm UMLS:C4025482 human_phenotype owl:Class HP:0007505 biolink:NamedThing Progressive hyperpigmentation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024859 human_phenotype owl:Class HP:0032421 biolink:NamedThing Decreased HDL2a concentration A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:41:26+00:00 peter owl:Class HP:0030079 biolink:NamedThing Cervix cancer A tumor of the uterine cervix. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3262|UMLS:C4048328|SNOMEDCT_US:363354003|MSH:D002583 owl:Class HP:0500136 biolink:NamedThing Hypothreoninemia A decreased amount of threonine in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased threonine blood levels|Low blood threonine concentration|Decreased circulating threonine levels 2018-10-01 16:07:19+00:00 owl:Class HP:0002077 biolink:NamedThing Migraine with aura A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:4473006|UMLS:C0154723|MSH:D020325 human_phenotype owl:Class HP:0002076 biolink:NamedThing Migraine Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. tmpxe7fu0cj_hp_relaxed.owl Migraine headache|Intermittent migraine headaches|Migraine|Migraine headaches UMLS:C0149931|UMLS:C0744641|SNOMEDCT_US:37796009|MSH:D008881 HP:0007194 human_phenotype owl:Class HP:0030605 biolink:NamedThing Abnormal indocyanine green angiography tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073075 owl:Class HP:0100129 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 2nd toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the second toe. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022292 doelkens 2010-06-24T10:06:29Z owl:Class HP:0007549 biolink:NamedThing Desquamation of skin soon after birth tmpxe7fu0cj_hp_relaxed.owl UMLS:C1842714 owl:Class HP:0005174 biolink:NamedThing Membranous subvalvular aortic stenosis Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1848978 An important feature in the differential diagnosis between valvular and subvalvular aortic stenosis is the fact that no ejection sound is present in the latter. human_phenotype owl:Class HP:0003238 biolink:NamedThing Hyperpepsinogenemia I tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025638 human_phenotype owl:Class UBERON:0035034 biolink:NamedThing eyelid epithelium An epithelium that is part of an eyelid [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl MA:0003163|EMAPA:32758 uberon owl:Class UBERON:0003603 biolink:NamedThing lower respiratory tract cartilage A cartilage that is part of a lower respiratory tract [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl cartilage of lower respiratory tract EMAPA:37547|NCIT:C49256|MA:0001819|UMLS:C1708759 uberon owl:Class GO:0016137 biolink:NamedThing glycoside metabolic process The chemical reactions and pathways involving glycosides, compounds in which a glycosyl group is substituted into a hydroxyl, thiol or selenol group in another compound. tmpxe7fu0cj_hp_relaxed.owl O-glycoside metabolism|O-glycoside metabolic process|glycoside metabolism GO:0016140 biological_process owl:Class GO:1901657 biolink:NamedThing glycosyl compound metabolic process The chemical reactions and pathways involving glycosyl compound. tmpxe7fu0cj_hp_relaxed.owl glycosyl compound metabolism pr 2012-11-20T14:24:07Z biological_process owl:Class HP:0010525 biolink:NamedThing Finger agnosia An inability or difficulty differentiating among the fingers of either hand as well as the hands of others. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0234509|MSH:D000377|SNOMEDCT_US:3449007 peter 2009-09-20T11:37:33Z human_phenotype owl:Class PR:Q10469 biolink:NamedThing alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (human) An alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II (human)|GNT-II (human)|beta-1,2-N-acetylglucosaminyltransferase II (human)|hMGAT2|mannoside acetylglucosaminyltransferase 2 (human)|GlcNAc-T II (human)|MGAT2 Reactome:R-HSA-975830|UniProtKB:Q10469 Category=organism-gene. protein owl:Class GO:1905312 biolink:NamedThing positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis Any process that activates or increases the frequency, rate or extent of cardiac neural crest cell migration involved in outflow tract morphogenesis. tmpxe7fu0cj_hp_relaxed.owl up-regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis|upregulation of cardiac neural crest cell migration involved in outflow tract morphogenesis|up regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis|activation of cardiac neural crest cell migration involved in outflow tract morphogenesis rl 2016-07-11T17:34:43Z biological_process owl:Class HP:0006698 biolink:NamedThing Dilatation of the ventricular cavity A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole. tmpxe7fu0cj_hp_relaxed.owl Ventricular aneurysm UMLS:C0392464|SNOMEDCT_US:90539001 Aneurysm is considered a severe form of dilatation. Ventricular aneurysms may have rim of calcium in the affected regions of the ventricular wall (which can become fibrotic). Thromboembolism is a potential complication. Ventricular aneurysms can be diagnosed by ventriculography. human_phenotype owl:Class PATO:0001434 biolink:NamedThing reproductive quality An organismal quality inhering in a bearer by virtue of the bearer's ability to produce new life or offspring. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0009064 biolink:NamedThing Generalized lipodystrophy Generalized degenerative changes of the fat tissue. tmpxe7fu0cj_hp_relaxed.owl Lipodystrophy, generalized|Generalised lipodystrophy|Lipodystrophy, generalised UMLS:C0221032|SNOMEDCT_US:86907008|MSH:D052497|SNOMEDCT_US:284449005 HP:0008966 human_phenotype owl:Class HP:0033001 biolink:NamedThing Laryngeal papilloma A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx. tmpxe7fu0cj_hp_relaxed.owl Laryngeal papillomatosis|Laryngeal papillomas peter owl:Class HP:0030251 biolink:NamedThing Absence of memory B cells Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022559 owl:Class UBERON:0012167 biolink:NamedThing buccal fat pad The Buccal fat pad is one of several encapsulated fat masses in the cheek. It is a deep fat pad located on either side of the face between the buccinator muscle and several more superficial muscles. It should not be confused with the malar fat pad, which is directly below the skin of the cheek. It should also not be confused with jowl fat pads. It is implicated in the formation of hollow cheeks and the nasolabial fold, but not in the formation of jowls. tmpxe7fu0cj_hp_relaxed.owl Bichat's fat pad|cheek fat pad FMA:59799 uberon owl:Class HP:0410017 biolink:NamedThing Otitis externa Inflammation or infection of the external auditory canal (EAC), the auricle, or both. tmpxe7fu0cj_hp_relaxed.owl Swimmer's ear owl:Class HP:0033589 biolink:NamedThing Flatulence Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating. tmpxe7fu0cj_hp_relaxed.owl 2021-01-27 21:29:30+00:00 peter owl:Class HP:0005236 biolink:NamedThing Chronic calcifying pancreatitis A form of chronic pancreatitis that is characterized by calcification. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025231 human_phenotype owl:Class HP:0033596 biolink:NamedThing Elevated urinary 3-methylcrotonylglycine level An abnormally increased amount of 3-methylcrotonylglycine in the urine. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 13:24:46+00:00 peter owl:Class HP:0002442 biolink:NamedThing Dyscalculia A specific learning disability involving mathematics and arithmetic. tmpxe7fu0cj_hp_relaxed.owl Difficulty making arithmetical calculations UMLS:C1411876|UMLS:C4280576|SNOMEDCT_US:47916000 human_phenotype owl:Class HP:0001328 biolink:NamedThing Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025790 The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. HP:0007234 human_phenotype owl:Class HP:0000308 biolink:NamedThing Microretrognathia A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. tmpxe7fu0cj_hp_relaxed.owl Retromicrognathia|Small retruded chin UMLS:C1839546 human_phenotype owl:Class GO:0043501 biolink:NamedThing skeletal muscle adaptation Any process in which skeletal muscles change their phenotypic profiles in response to altered functional demands and a variety of signals. tmpxe7fu0cj_hp_relaxed.owl skeletal muscle plasticity biological_process owl:Class HP:0000876 biolink:NamedThing Oligomenorrhea Infrequent menses (less than 6 per year or more than 35 days between cycles). tmpxe7fu0cj_hp_relaxed.owl Light or infrequent menstrual periods SNOMEDCT_US:52073004|UMLS:C0028949|MSH:D009839 human_phenotype owl:Class UBERON:0015060 biolink:NamedThing sphenoid endochondral element A sphenoid bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl sphenoid bone skeletal element|sphenoid element uberon owl:Class HP:0100588 biolink:NamedThing Paraphimosis The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:13758004|UMLS:C0030483|MSH:D010263 doelkens 2010-12-27T03:13:30Z owl:Class GO:0048534 biolink:NamedThing hematopoietic or lymphoid organ development The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation. tmpxe7fu0cj_hp_relaxed.owl hemopoietic or lymphoid organ development|haemopoietic or lymphoid organ development|haematopoietic or lymphoid organ development biological_process owl:Class HP:0500052 biolink:NamedThing Retinopathy of prematurity stage 3 The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina. tmpxe7fu0cj_hp_relaxed.owl ROP stage 3 2018-02-19 18:43:45+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0005512 biolink:NamedThing Impaired neutrophil killing of staphylococci A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025188 human_phenotype owl:Class HP:0011993 biolink:NamedThing Impaired neutrophil bactericidal activity A reduction in the ability of neutrophils to kill bacteria. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023090 peter 2012-07-19T11:01:32Z human_phenotype owl:Class HP:0012889 biolink:NamedThing Cervical endometriosis Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0269107|SNOMEDCT_US:61640006 hecht 2014-06-11T09:42:02Z human_phenotype owl:Class HP:0410357 biolink:NamedThing Increased high-mannose N-glycan level An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins. tmpxe7fu0cj_hp_relaxed.owl Increased high-mannose N-glycans on glycoprotein concentration owl:Class CL:0000095 biolink:NamedThing neuron associated cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0004794 biolink:NamedThing Malrotation of small bowel A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel. tmpxe7fu0cj_hp_relaxed.owl Malrotation of the small intestine UMLS:C1860244 Malrotation results not only in the malposition of the bowel but also in the malfixation of the mesentery. The normally broad mesenteric attachment is shortened to a narrow pedicle that predisposes the patient to the complication of midgut volvulus. human_phenotype owl:Class HP:0041066 biolink:NamedThing Chronic partially decreased circulating IgG2 A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood. tmpxe7fu0cj_hp_relaxed.owl Chronic partially decreased IgG2 in blood owl:Class HP:0041063 biolink:NamedThing Chronic decreased cirulating IgG2 A lasting decrease of immunoglobulin G2 (IgG2) in the blood. tmpxe7fu0cj_hp_relaxed.owl Chronic decreased IgG2 in blood owl:Class HP:0012019 biolink:NamedThing Lens luxation Complete dislocation of the lens of the eye. tmpxe7fu0cj_hp_relaxed.owl Dislocated lens|Dislocated lenses UMLS:C0023309|MSH:D007906 peter 2012-07-26T10:40:02Z human_phenotype owl:Class HP:0031337 biolink:NamedThing Abnormal cardiomyocyte connexin43 staining Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 13:35:38+00:00 peter owl:Class HP:0011513 biolink:NamedThing Retinal cavernous angioma A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0730304|SNOMEDCT_US:312937006 The lesions are variable in size and location, and frequently follow the course of a major retinal vein. Epiretinal membranes are a common feature. In contrast to retinal capillary hemangiomas, cavernous hemangiomas lack prominent feeder vessels, intraretinal exudate, and surrounding subretinal fluid. Because the fundoscopic features are characteristic, diagnosis can generally be made based upon clinical appearance. peter 2012-04-06T04:12:54Z human_phenotype owl:Class HP:0007797 biolink:NamedThing Retinal vascular malformation tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861791 human_phenotype owl:Class HP:0012841 biolink:NamedThing Retinal vascular tortuosity The presence of an increased number of twists and turns of the retinal blood vessels. tmpxe7fu0cj_hp_relaxed.owl Tortuous retinal vessels UMLS:C1860475 peter 2014-06-06T07:53:56Z human_phenotype owl:Class HP:0033930 biolink:NamedThing Arcuate artery endoarterial lymphocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery. tmpxe7fu0cj_hp_relaxed.owl Endoarterial hypercellularity within arcuate artery consisting of lymphocytes 2021-06-24 01:16:06+00:00 peter owl:Class HP:0033927 biolink:NamedThing Arcuate artery endoarterial leukocyte hypercellularity Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). tmpxe7fu0cj_hp_relaxed.owl Endoarterial hypercellularity within arcuate artery consisting of leukocytes 2021-06-24 01:12:13+00:00 peter owl:Class HP:0031322 biolink:NamedThing Myocardial lymphocytic infiltration An increase in the number of lymphocytes in myocardial tissue. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 12:08:10+00:00 peter owl:Class HP:0030518 biolink:NamedThing Congruous homonymous hemianopia tmpxe7fu0cj_hp_relaxed.owl Congruous hemianopsia UMLS:C4072997 owl:Class HP:0003514 biolink:NamedThing Deficiency or absence of cytochrome b(-245) tmpxe7fu0cj_hp_relaxed.owl Deficiency or absence of cytochrome b UMLS:C1844390 human_phenotype owl:Class HP:0032893 biolink:NamedThing Gastroenteritis-related afebrile seizure Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause. tmpxe7fu0cj_hp_relaxed.owl Most typically these seizures have been studied in children between the ages of six months and three years. They often occur in clusters. peter owl:Class HP:0032892 biolink:NamedThing Infection-related seizure Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever. tmpxe7fu0cj_hp_relaxed.owl This includes seizures in the context of febrile or afebrile infection. peter owl:Class HP:0100210 biolink:NamedThing Small epiphysis of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Small end part of the outermost bone of the pinkie toe|Small end part of the outermost bone of the pinky toe|Small end part of the outermost bone of the little toe UMLS:C4022211 doelkens 2010-06-24T05:03:31Z human_phenotype owl:Class HP:0025328 biolink:NamedThing Antepartum hemorrhage Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby. tmpxe7fu0cj_hp_relaxed.owl Prepartum haemorrhage|Antepartum haemorrhage|Prepartum hemorrhage 2017-02-11 11:09:10+00:00 HPO:probinson owl:Class HP:0007986 biolink:NamedThing Increased retinal vascularity tmpxe7fu0cj_hp_relaxed.owl UMLS:C1847882 human_phenotype owl:Class HP:0032854 biolink:NamedThing Focal aware hemifacial clonic seizure Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0030851 biolink:NamedThing Low pulse pressure Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280743 owl:Class HP:0030460 biolink:NamedThing Abnormal timing of pattern reversal visual evoked potentials tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072950 owl:Class HP:0100289 biolink:NamedThing Abnormality of pattern reversal visual evoked potentials tmpxe7fu0cj_hp_relaxed.owl Abnormality of pattern reversal VEP UMLS:C4022165 doelkens 2010-08-10T01:20:56Z human_phenotype owl:Class HP:0030758 biolink:NamedThing Periapical tooth abscess A tooth abscess that occurs at the tip of the root (apex) of a tooth. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280782 owl:Class HP:0002300 biolink:NamedThing Mutism tmpxe7fu0cj_hp_relaxed.owl Inability to speak|Muteness SNOMEDCT_US:88052002|UMLS:C0026884|MSH:D009155 owl:Class HP:0012157 biolink:NamedThing Subcortical cerebral atrophy Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023018 peter 2013-01-20T11:22:50Z owl:Class HP:0000319 biolink:NamedThing Smooth philtrum Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. tmpxe7fu0cj_hp_relaxed.owl Flat philtrum|Philtrum, smooth|Indistinct philtrum|Shallow philtrum|Simple philtrum|Decreased depth of philtrum UMLS:C1142533 There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately. HP:0000299|HP:0000323|HP:0004663 human_phenotype owl:Class HP:0033473 biolink:NamedThing 10-minute APGAR score of 5 tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:45:51+00:00 peter owl:Class HP:0005449 biolink:NamedThing Bridged sella turcica tmpxe7fu0cj_hp_relaxed.owl MSH:C566689|UMLS:C1866959 human_phenotype owl:Class HP:0410147 biolink:NamedThing Eosinophilic infiltration in the stomach mucosa Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia. tmpxe7fu0cj_hp_relaxed.owl Eosinophilic gastritis 2018-03-12 20:54:48+00:00 owl:Class HP:0033228 biolink:NamedThing Triceps areflexia Inability to elicit triceps tendon reflex. tmpxe7fu0cj_hp_relaxed.owl Areflexia of triceps 2020-10-30 11:15:30+00:00 peter owl:Class HP:0012046 biolink:NamedThing Areflexia of upper limbs Inability to elicit tendon reflexes in the upper limbs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2674177 peter 2012-08-01T12:24:31Z owl:Class HP:0005531 biolink:NamedThing Biphenotypic acute leukemia A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias. tmpxe7fu0cj_hp_relaxed.owl Acute biphenotypic leukaemia|Myeloid/lymphoid leukemia|Biphenotypic acute leukaemia|Myeloid/lymphoid leukaemia MSH:D015456|SNOMEDCT_US:278453007|SNOMEDCT_US:128818009|UMLS:C0023464 human_phenotype owl:Class HP:0011208 biolink:NamedThing EEG with generalized slow activity grade 3 Generalized slowing of EEG activity at frequencies between 0.5-3 Hz. tmpxe7fu0cj_hp_relaxed.owl EEG with generalised slow activity grade 3 UMLS:C4023466 peter 2011-11-19T12:44:11Z human_phenotype owl:Class HP:0006576 biolink:NamedThing Hepatic vascular malformations tmpxe7fu0cj_hp_relaxed.owl Liver vascular malformations UMLS:C1861790 human_phenotype owl:Class HP:0011809 biolink:NamedThing Paradoxical myotonia A type of myotonia that worsens with repeated muscle contractions. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023179 In classic myotonia the myotonia improves as muscles warm up, whereas in paradoxical myotonia (paramyotonia) it worsens with repeated muscle contractions. peter 2012-04-27T01:20:08Z human_phenotype owl:Class UBERON:0015035 biolink:NamedThing pedal digit 5 phalanx endochondral element A pedal digit 5 phalanx bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl pedal digit 5 phalanx skeletal element|pedal digit 5 phalanx element|pedal digit V phalanx endochondral element uberon owl:Class HP:0001571 biolink:NamedThing Multiple impacted teeth The presence of multiple impacted teeth. tmpxe7fu0cj_hp_relaxed.owl Impacted teeth|Multiple impacted teeth|Multiple retained teeth|Multiple buried teeth UMLS:C1839965|UMLS:C4280593 owl:Class HP:0010600 biolink:NamedThing Abnormality of the distal ulnar epiphysis Any abnormality of the distal epiphysis of the ulna. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023773 sandra1 2009-10-22T06:41:21Z human_phenotype owl:Class UBERON:0022292 biolink:NamedThing splenic arteriole tmpxe7fu0cj_hp_relaxed.owl NCIT:C33596 uberon owl:Class HP:0010708 biolink:NamedThing 1-5 finger syndactyly Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand). tmpxe7fu0cj_hp_relaxed.owl Webbed 1-5 fingers|Webbed 1st-5th fingers UMLS:C4023728 sdoelken 2010-03-26T05:12:44Z owl:Class HP:4000058 biolink:NamedThing Glomerular proteinuria A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. PMID: 19634399 tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 22:02:41+00:00 In contrast to glomerular proteinuria, tubular proteinuria is generally less than 1-2 g/24 h. In tubular proteinuria, although albumin remains a significant component, there is a relatively much greater increase in proteins of smaller than 60 000 Da robinp owl:Class HP:0009352 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 3rd finger Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the innermost middle finger bone UMLS:C4024417 doelkens 2009-01-12T11:19:03Z human_phenotype owl:Class HP:0011335 biolink:NamedThing Frontal hirsutism Excessive amount of hair growth on forehead. tmpxe7fu0cj_hp_relaxed.owl Hirsute forehead|Hairy forehead UMLS:C1839830 peter 2012-02-25T05:21:59Z human_phenotype owl:Class HP:0100478 biolink:NamedThing Symphalangism affecting the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Fused outermost bones of the pinky toe|Fused outermost bones of the pinkie toe|Fused outermost bones of the little toe UMLS:C4022049 human_phenotype owl:Class HP:0031082 biolink:NamedThing Impaired growth-hormone response to glucagon stimulation test Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 23:49:45+00:00 peter owl:Class HP:0008401 biolink:NamedThing Onychogryposis of toenails Thickened toenails. tmpxe7fu0cj_hp_relaxed.owl Overgrowth and curving of toenails UMLS:C4024679 HP:0008395|HP:0008405 human_phenotype owl:Class HP:0007156 biolink:NamedThing Asymmetric limb muscle stiffness Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024931 human_phenotype owl:Class HP:0004389 biolink:NamedThing Intestinal pseudo-obstruction A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded. tmpxe7fu0cj_hp_relaxed.owl Intestinal pseudoobstruction SNOMEDCT_US:235825006|MSH:D007418|SNOMEDCT_US:715201005|UMLS:C0021847 peter 2008-03-18T09:03:00Z human_phenotype owl:Class HP:0004342 biolink:NamedThing Abnormality of galactoside metabolism Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025351 peter 2008-03-08T08:33:00Z human_phenotype owl:Class HP:0003649 biolink:NamedThing Abnormality of glycoside metabolism Abnormality of glycoside metabolism. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025584 Glycosides are molecules with a suger moiety bound to some other moiety. peter 2008-03-08T08:32:00Z human_phenotype owl:Class HP:0004407 biolink:NamedThing Bony paranasal bossing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857499 peter 2008-03-18T09:20:00Z human_phenotype owl:Class GO:1905427 biolink:NamedThing intracellular signal transduction involved in positive regulation of cell growth Any intracellular signal transduction that is involved in positive regulation of cell growth. tmpxe7fu0cj_hp_relaxed.owl intracellular signaling chain involved in up-regulation of cell growth|intracellular signaling cascade involved in positive regulation of cell growth|signal transduction via intracellular signaling cascade involved in activation of cell growth|signal transmission via intracellular cascade involved in activation of cell growth|intracellular signaling pathway involved in positive regulation of cell growth|intracellular signaling cascade involved in activation of cell growth|intracellular signal transduction pathway involved in up regulation of cell growth|intracellular signaling cascade involved in up-regulation of cell growth|intracellular signaling chain involved in activation of cell growth|intracellular signaling chain involved in stimulation of cell growth|protein kinase cascade involved in activation of cell growth|intracellular protein kinase cascade involved in up regulation of cell growth|intracellular protein kinase cascade involved in positive regulation of cell growth|intracellular signaling cascade involved in up regulation of cell growth|signal transduction via intracellular signaling cascade involved in stimulation of cell growth|intracellular signaling chain involved in positive regulation of cell growth|intracellular signal transduction pathway involved in up-regulation of cell growth|signal transduction via intracellular signaling cascade involved in upregulation of cell growth|protein kinase cascade involved in stimulation of cell growth|protein kinase cascade involved in positive regulation of cell growth|intracellular signaling cascade involved in upregulation of cell growth|intracellular signal transduction pathway involved in upregulation of cell growth|intracellular signal transduction pathway involved in stimulation of cell growth|signal transmission via intracellular cascade involved in upregulation of cell growth|signal transmission via intracellular cascade involved in up-regulation of cell growth|intracellular signaling pathway involved in up-regulation of cell growth|intracellular signaling pathway involved in up regulation of cell growth|protein kinase cascade involved in up regulation of cell growth|signal transmission via intracellular cascade involved in up regulation of cell growth|intracellular signal transduction pathway involved in positive regulation of cell growth|signal transmission via intracellular cascade involved in stimulation of cell growth|signal transmission via intracellular cascade involved in positive regulation of cell growth|signal transduction via intracellular signaling cascade involved in up regulation of cell growth|protein kinase cascade involved in upregulation of cell growth|intracellular signal transduction involved in activation of cell growth|intracellular signaling chain involved in upregulation of cell growth|intracellular protein kinase cascade involved in activation of cell growth|intracellular signaling chain involved in up regulation of cell growth|intracellular signal transduction involved in up-regulation of cell growth|intracellular protein kinase cascade involved in up-regulation of cell growth|signal transduction via intracellular signaling cascade involved in up-regulation of cell growth|protein kinase cascade involved in up-regulation of cell growth|intracellular signaling cascade involved in stimulation of cell growth|signal transduction via intracellular signaling cascade involved in positive regulation of cell growth|intracellular signal transduction involved in up regulation of cell growth|intracellular signaling pathway involved in upregulation of cell growth|intracellular signal transduction involved in stimulation of cell growth|intracellular signal transduction involved in upregulation of cell growth|intracellular signal transduction pathway involved in activation of cell growth|intracellular signaling pathway involved in activation of cell growth|intracellular signaling pathway involved in stimulation of cell growth|intracellular protein kinase cascade involved in upregulation of cell growth|intracellular protein kinase cascade involved in stimulation of cell growth dph 2016-09-07T18:15:01Z biological_process owl:Class HP:0009007 biolink:NamedThing Biceps hypoplasia Underdevelopment of the biceps muscle. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic biceps|Underdeveloped biceps UMLS:C1862499 human_phenotype owl:Class HP:0008259 biolink:NamedThing Adrenocorticotropin receptor defect Adrenal insufficiency secondary to a defect in the ACTH receptor. tmpxe7fu0cj_hp_relaxed.owl ACTH receptor defect|ACTHR defect|Adrenocorticotropic hormone-resistant adrenal insufficiency UMLS:C4021548 human_phenotype owl:Class UBERON:0015837 biolink:NamedThing incisor dental pulp A dental pulp that is part of a incisor tooth. tmpxe7fu0cj_hp_relaxed.owl EMAPA:35429|FMA:294459|MA:0003221 uberon owl:Class FMA has classes for very specific sublcasses but no generic grouping at this level PATO:0001195 biolink:NamedThing proximal to A spatial quality inhering in a bearer by virtue of the bearer's being located more centrally than another entity. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0032406 biolink:NamedThing Unilateral perisylvian polymicrogyria A type of perisylvian polymicrogyria that largely affects one side of the brain. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 20:45:13+00:00 peter owl:Class HP:0034148 biolink:NamedThing Anti-isoleucyl tRNA-synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase. tmpxe7fu0cj_hp_relaxed.owl Anti-OJ antibody positivity 2021-12-23 13:59:53+00:00 peter owl:Class HP:0032619 biolink:NamedThing Perinephric abscess A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney). tmpxe7fu0cj_hp_relaxed.owl Detecting its presence can be diagnostically challenging because, in its chronic form, it usually develops insidiously, and in some cases its appearance can even simulate a renal tumour. The presence of a perinephric collection of purulent material around the kidneys occurs more often insidiously as a secondary phenomenon to upper tract urosepsis, classically in association with an infective staghorn renal calculus. peter owl:Class HP:0033003 biolink:NamedThing Tracheal papilloma A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:3000010 biolink:NamedThing Abnormality of orbicularis oris muscle An abnormality of an orbicularis oris muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073219 vasilevs 2015-02-26T03:55:58Z human_phenotype owl:Class HP:0004280 biolink:NamedThing Irregular ossification of hand bones tmpxe7fu0cj_hp_relaxed.owl Irregular maturation of hand bones UMLS:C4025374 human_phenotype owl:Class NCBITaxon:314295 biolink:NamedThing Hominoidea tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0010602 biolink:NamedThing Type 2 muscle fiber predominance An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). tmpxe7fu0cj_hp_relaxed.owl Type II muscle fiber predominance|Type II muscle fibre predominance|Type 2 muscle fibre predominance UMLS:C3277187 peter 2009-10-25T09:56:24Z owl:Class HP:0030611 biolink:NamedThing Retinal pigment epithelial loss on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073081 owl:Class HP:0025404 biolink:NamedThing Abnormal visual fixation Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location. tmpxe7fu0cj_hp_relaxed.owl 2017-04-22 14:29:49+00:00 HPO:probinson owl:Class HP:0033992 biolink:NamedThing Chronotropic incompetence Inability of the heart to increase its rate commensurate with increased activity or demand. tmpxe7fu0cj_hp_relaxed.owl 2021-08-20 13:16:38+00:00 Chronotropic incompetence is common in patients with cardiovascular disease, produces exercise intolerance that impairs quality of life, and is an independent predictor of major adverse cardiovascular events and overall mortality. peter owl:Class HP:0200023 biolink:NamedThing Priapism A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours. tmpxe7fu0cj_hp_relaxed.owl hulseyism UMLS:C0033117|SNOMEDCT_US:6273006|MSH:D011317 sebastiankohler 2010-06-16T05:00:44Z human_phenotype owl:Class HP:0010474 biolink:NamedThing Bladder stones Buildups of minerals that form in the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:70650003|MSH:D001744|UMLS:C0005683 peter 2009-09-15T10:03:20Z human_phenotype owl:Class GO:0023026 biolink:NamedThing MHC class II protein complex binding Binding to a class II major histocompatibility complex. tmpxe7fu0cj_hp_relaxed.owl 2010-02-16T09:30:50Z molecular_function owl:Class HP:0033872 biolink:NamedThing Cortical peritubular capillary lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 19:22:33+00:00 peter owl:Class HP:0008683 biolink:NamedThing Enlarged labia minora Increase in size of the folds of skin between the outer labia. tmpxe7fu0cj_hp_relaxed.owl Hypertrophic labia minora|Labia minora hypertrophy UMLS:C1849358 HP:0008694|HP:0008662 owl:Class HP:0033721 biolink:NamedThing EEG with centrotemporal epileptiform discharges Focal epileptiform EEG discharges recorded in the centrotemporal region. tmpxe7fu0cj_hp_relaxed.owl 2021-04-07 13:05:20+00:00 peter owl:Class HP:0005997 biolink:NamedThing Restricted neck movement due to contractures tmpxe7fu0cj_hp_relaxed.owl Neck flexion contracture|Restricted neck movement due to contractures|Restricted neck mobility due to contractures UMLS:C1867006 owl:Class HP:0004312 biolink:NamedThing Abnormal reticulocyte morphology A reticulocyte abnormality. tmpxe7fu0cj_hp_relaxed.owl Abnormality of reticulocytes UMLS:C4025358 Reticulocytes are immature erythrocytes that show a basophilic reticulum under vital staining. peter 2008-02-20T03:19:00Z human_phenotype owl:Class UBERON:0004711 biolink:NamedThing jugular vein The jugular veins are veins that bring deoxygenated blood from the head back to the heart via the superior vena cava. tmpxe7fu0cj_hp_relaxed.owl vena jugularis|jugular SCTID:244403000|EMAPA:18638|Wikipedia:Jugular_vein|NCIT:C12738|BTO:0001744|GAID:536|CALOHA:TS-0497|UMLS:C0022427|MESH:D007601|MA:0002154 http://upload.wikimedia.org/wikipedia/commons/f/f8/Gray558.png uberon owl:Class HP:0100302 biolink:NamedThing Muscle fiber tubuloreticular inclusions tmpxe7fu0cj_hp_relaxed.owl Muscle fibre tubuloreticular aggregates|Muscle fiber tubuloreticular aggregates|Muscle fibre tubuloreticular inclusions UMLS:C4021023 doelkens 2010-08-10T02:36:48Z human_phenotype owl:Class HP:0100951 biolink:NamedThing Enlarged fossa interpeduncularis tmpxe7fu0cj_hp_relaxed.owl Enlarged basal cistern|Enlarged interpeduncular cistern UMLS:C4020922 doelkens 2011-12-02T04:45:02Z HP:0002420 human_phenotype owl:Class UBERON:0011142 biolink:NamedThing axial ossicle Ossicle that is part of the axial skeleton. tmpxe7fu0cj_hp_relaxed.owl ossicle of postcranial-axial skeleton|vertebral ossicle|ossicle of axial skeleton VSAO:0000133 Examples of axial ossicles include the ossified tendons adjacent to the neural spines of the vertebral column. uberon owl:Class HP:0030407 biolink:NamedThing Pineocytoma A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:255045009|MSH:D010871|NCIT:C6966|SNOMEDCT_US:89096009|UMLS:C0917890 owl:Class HP:0100427 biolink:NamedThing Broad middle phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Broad middle bone of the little toe|Broad middle bone of the pinkie toe|Broad middle bone of the pinky toe UMLS:C4022100 human_phenotype owl:Class HP:0006598 biolink:NamedThing Irregular ossification at anterior rib ends tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850083 human_phenotype owl:Class HP:0033625 biolink:NamedThing Emotional insecurity A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 23:12:23+00:00 It is difficult to give a precise definition of emotional insecurity, but it has beed defined as deficits in emotional reactivity (inability to develop an attitude of resistance or vigiliance in the presence of potentially threatening situations), behavior regulation (inappropriate behavioral response to threatening situations characterized by either overinvolvement in the situation or by the avoidance of it) and inappropriate internal representations (exaggerated conscious or unconscious schemas of potential danger). peter owl:Class HP:0006334 biolink:NamedThing Hypoplasia of the primary teeth Developmental hypoplasia of the primary teeth. tmpxe7fu0cj_hp_relaxed.owl Small primary teeth|Decreased size of deciduous teeth|Underdevelopment of primary teeth|Decreased size of primary teeth|Hypoplastic deciduous teeth|Underdevelopment of baby teeth|Decreased size of milk teeth|Small baby teeth|Decreased size of baby teeth|Small milk teeth|Underdevelopment of milk teeth UMLS:C1855694 HP:0006318 human_phenotype owl:Class HP:0012871 biolink:NamedThing Varicocele A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum. tmpxe7fu0cj_hp_relaxed.owl Vaginal varicocele SNOMEDCT_US:51070004|MSH:D014646|UMLS:C0042341|SNOMEDCT_US:46871008 "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. hecht 2014-06-09T11:07:41Z human_phenotype owl:Class HP:0033480 biolink:NamedThing Hypobilirubinemia Decreased circulation of bilirubin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 23:03:03+00:00 peter owl:Class HP:0100256 biolink:NamedThing Senile plaques Senile plaques are extracellular deposits of amyloid in the gray matter of the brain. tmpxe7fu0cj_hp_relaxed.owl Neuritic plaques|Braindruse|Senile druse SNOMEDCT_US:38551001|MSH:D058225|UMLS:C0333463 Senile plaques can be found in human and animal brains. From an age of 60 years (10%) to an age of 80 years (60%) the proportion of people with plaques increases approximately linearly. A small number of plaques can be due to the physiological process of aging. Women are slightly more likely to have plaques than males. The plaques occur commonly in the amygdoid nucleus and the sulci of the cortex of brain. The deposits are associated with degenerative neural structures and an abundance of microglia and astrocytes. Large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimers disease, and some of the abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles. In Alzheimer's disease they are primarily composed of amyloid beta peptides. These polypeptides tend to aggregate and are believed to be neurotoxic. doelkens 2010-07-15T02:43:44Z owl:Class HP:0007086 biolink:NamedThing Social and occupational deterioration tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866986 owl:Class HP:0041183 biolink:NamedThing Fractured middle phalanx of manual digit 3 A partial or complete breakage of the middle phalanx of manual digit 3. tmpxe7fu0cj_hp_relaxed.owl bone middle phalanx of manual digit 3 owl:Class UBERON:0015251 biolink:NamedThing modified sebaceous gland tmpxe7fu0cj_hp_relaxed.owl MA:0003043|EMAPA:37680 uberon owl:Class HP:0001620 biolink:NamedThing High pitched voice An abnormal increase in the pitch (frequency) of the voice. tmpxe7fu0cj_hp_relaxed.owl High pitched voice|High-pitched voice SNOMEDCT_US:51406002|UMLS:C0241703 HP:0008377|HP:0008379|HP:0001610|HP:0009146|HP:0008374|HP:0008378 human_phenotype owl:Class CHEBI:35222 biolink:NamedThing inhibitor A substance that diminishes the rate of a chemical reaction. tmpxe7fu0cj_hp_relaxed.owl inhibitors|inhibidor|inhibitor|inhibiteur chebi_ontology owl:Class HP:0032852 biolink:NamedThing Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0031646 biolink:NamedThing Fusiform aortic arch aneurysm A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 14:19:02+00:00 peter owl:Class HP:0005113 biolink:NamedThing Aortic arch aneurysm An abnormal localized widening (dilatation) of the aortic arch. tmpxe7fu0cj_hp_relaxed.owl Dilatation of the aortic arch|Aortic arch dilatation UMLS:C1851119|Fyler:2706 peter 2008-03-25T06:34:00Z HP:0004965 human_phenotype owl:Class HP:0045018 biolink:NamedThing Partial duplication of eyebrows tmpxe7fu0cj_hp_relaxed.owl Partial duplication of eyebrows|Partial double eyebrow UMLS:C4022396 HPO:skoehler owl:Class HP:0012354 biolink:NamedThing Increased fucosylation of N-linked protein glycosylation Increased addition of fucose sugar units to N-linked glycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022937 peter 2013-09-15T10:21:15Z human_phenotype owl:Class HP:0030800 biolink:NamedThing Abnormal visual accommodation An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280760 owl:Class HP:0034095 biolink:NamedThing Anti-endothelin-1 type A receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor. tmpxe7fu0cj_hp_relaxed.owl Anti-ETAR antibody positivity 2021-12-19 02:46:17+00:00 peter owl:Class HP:0500253 biolink:NamedThing Increased level of gamma-aminobutyric acid in urine Elevated concentration of gamma-aminobutyric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urinary excretion of gamma-aminobutyric acid (GABA) 2019-03-08 20:23:10+00:00 owl:Class HP:0003809 biolink:NamedThing Reduced intrathoracic adipose tissue An abnormally reduced amount of adipose tissue in the thoracic cavity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1837797 human_phenotype owl:Class HP:0030713 biolink:NamedThing Vein of Galen aneurysmal malformation Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen. tmpxe7fu0cj_hp_relaxed.owl Median prosencephalic arteriovenous fistula|Vein of Galen aneurysm|Vein of Galen malformation SNOMEDCT_US:253194008|UMLS:C0431420|MSH:C536535 The most common vascular CNS anomaly in the fetal brain is the vein of Galen malformation. At prenatal US, an anechoic cystic mass is seen in the midline, superior and posterior to the third ventricle and thalamus. Color and spectral Doppler imaging demonstrate the presence of low-resistance flow and a turbulent waveform. Blood flow may be seen draining posteriorly into the venous sinuses. See Figure 13 of PMID:32706613. owl:Class UBERON:0013757 biolink:NamedThing capillary blood A blood that is part of a capillary. tmpxe7fu0cj_hp_relaxed.owl blood in capillary|portion of blood in capillary|portion of capillary blood NCIT:C32212|FMA:263901 uberon owl:Class GO:0010668 biolink:NamedThing ectodermal cell differentiation The process in which relatively unspecialized cells acquire specialized structural and/or functional features of an ectodermal cell. Differentiation includes the processes involved in commitment of a cell to a specific fate. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0410254 biolink:NamedThing Cyclic neutropenia in myeloid maturation arrest in bone marrow Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl 2018-10-19 18:52:02+00:00 owl:Class HP:0040289 biolink:NamedThing Cyclic neutropenia Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia). tmpxe7fu0cj_hp_relaxed.owl CyN owl:Class HP:0011776 biolink:NamedThing Thyroid microfollicular adenoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023193 peter 2012-04-22T06:01:48Z human_phenotype owl:Class HP:0033054 biolink:NamedThing Myoclonic tremor A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class MAXO:0010356 biolink:NamedThing chest radiograph procedure Use of an imaging test that uses small amounts of radiation to produce pictures of chest. tmpxe7fu0cj_hp_relaxed.owl radiograph of chest|radiography of chest|chest X-ray procedure|chest radiogram procedure 2020-04-07T20:39:14Z NCIT:C38103 http://orcid.org/0000-0001-7941-2961 owl:Class CL:0002261 biolink:NamedThing endothelial cell of viscerocranial mucosa An endothelial cell found in the mucosa associated with the facial skeleton. tmpxe7fu0cj_hp_relaxed.owl FMA:70627 tmeehan 2010-09-14T10:40:12Z CL:1000446 cell owl:Class HP:0031256 biolink:NamedThing Optic nerve arteriovenous malformation An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 15:51:08+00:00 peter owl:Class HP:0009451 biolink:NamedThing Bullet-shaped proximal phalanx of the 3rd finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped innermost bone of the middle finger UMLS:C4024354 doelkens 2009-01-14T04:33:41Z human_phenotype owl:Class MAXO:0010206 biolink:NamedThing lymph node ultrasonography The use of ultrasound to produce images of structures in the lymph node. tmpxe7fu0cj_hp_relaxed.owl ultrasonography of lymph node|lymph node diagnostic sonography|lymph node sonography|sonography of lymph node|lymph node ultrasound imaging procedure|lymph node ultrasound examination|lymph node ultrasound procedure|lymph node medical ultrasound 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-2970 owl:Class HP:0030294 biolink:NamedThing Metaphyseal chondromatosis of tibia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022531 owl:Class GO:0048232 biolink:NamedThing male gamete generation Generation of the male gamete; specialised haploid cells produced by meiosis and along with a female gamete takes part in sexual reproduction. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010828 biolink:NamedThing Hemifacial spasm Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions. tmpxe7fu0cj_hp_relaxed.owl Hemifacial spasms|Spasms on one side of the face UMLS:C0278152|MSH:D019569|SNOMEDCT_US:13753008 Hemifacial spasm presents in the fifth or sixth decade of life, and is almost always unilateral. An attack usually begins with brief clonic movements of the orbicularis oculi and spreads over years to other facial muscles. Hemifacial spasm is often the result of chronic irritation of the facial nerve or nucleus. peter 2010-07-10T04:15:33Z human_phenotype owl:Class HP:0003739 biolink:NamedThing Myoclonic spasms tmpxe7fu0cj_hp_relaxed.owl UMLS:C3806442 HP:0006963 human_phenotype owl:Class HP:0006834 biolink:NamedThing Developmental stagnation at onset of seizures A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1836829 human_phenotype owl:Class PATO:0002175 biolink:NamedThing deviation A spatial quality inhering in a bearer by virtue of the bearer's changed direction of position towards another entity. tmpxe7fu0cj_hp_relaxed.owl 2010-02-25T09:14:42Z quality owl:Class HP:0011665 biolink:NamedThing Takotsubo cardiomyopathy Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation. tmpxe7fu0cj_hp_relaxed.owl Broken-heart syndrome MSH:D054549|UMLS:C1739395|SNOMEDCT_US:441541008 peter 2012-04-09T11:39:40Z human_phenotype owl:Class PATO:0002009 biolink:NamedThing branchiness A shape quality inhering in a bearer by virtue of the degree to which there are subdivisions or offshoots in a bearer entity. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:3000032 biolink:NamedThing Abnormality of central retinal artery An abnormality of a central retinal artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073240 The central retinal artery is a small branch of the ophthalmic artery that extends forward a short distance before entering the meningeal sheath of the nerve about 10 to 12 mm behind the globe of the eye. vasilevs 2015-08-07T00:27:17Z human_phenotype owl:Class HP:0011452 biolink:NamedThing Functional abnormality of the middle ear An abnormality of the function of the middle ear. tmpxe7fu0cj_hp_relaxed.owl Functional abnormality of the middle ear UMLS:C4021846 The middle ear comprises the tympanic cavity in the temporal bone of the skull behind the eardrum, and is separated from the outer ear by the ear drum. The tympanic cavity contains the auditory ossicles (malleus, incus, stapes) that vibrate when exposed to sound, forming a chain that extends to the oval window of the inner ear and whose main function is to amplify sound. Additionally, the middle ear connects to the back of the throat and nose through the Eustachian tube. peter 2012-03-19T09:33:03Z human_phenotype owl:Class HP:0032578 biolink:NamedThing Third ventricle colloid cyst An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus. tmpxe7fu0cj_hp_relaxed.owl The colloid cyst is most commonly found in the rostral third ventricle at or near the foramen of Monro. The foramen of Monro is the conduit of cerebrospinal fluid (CSF) outflow from the lateral ventricles to the third ventricle. A colloid cyst can act as a ball valve, stopping CSF flow out of the lateral ventricles. If this occurs, CSF backs up into the lateral ventricles and causes ventriculomegaly and hydrocephalus. peter owl:Class HP:0002676 biolink:NamedThing Cloverleaf skull Trilobar skull configuration when viewed from the front or behind. tmpxe7fu0cj_hp_relaxed.owl Cloverleaf skull shape|Cloverleaf cranium shape|Kleeblattschaedel|Trilobar cranium shape|Trilobar skull shape UMLS:C4280564|UMLS:C1860050 A deformity of the skull that resembles a cloverleaf and is characterized by very prominent temporal bones with constriction of the remainder of the cranium. Cloverleaf skull is commonly accompanied by hydrocephalus. HP:0005459|HP:0004477 human_phenotype owl:Class HP:0031632 biolink:NamedThing Anomalous origin of the right subclavian artery from the descending aorta Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 01:01:57+00:00 peter owl:Class HP:0032811 biolink:NamedThing Neonatal electrographic only seizure Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation. tmpxe7fu0cj_hp_relaxed.owl The duration of the seizures has to be sufficient to demonstrate evolution in frequency and morphology of the discharges on electroencephalography, which will depend on the frequency of the discharge. The duration is arbitrary but needs to be sufficient to allow recognition of onset, evolution and resolution of an abnormal discharge. This type of seizure is particular to the neonatal period; beyond this electrographic appearance of a seizure must be associated with a clinical correlate to be classed as a seizure. peter owl:Class HP:0025401 biolink:NamedThing Staring gaze An abnormality in which the eyes are held permanently wide open. tmpxe7fu0cj_hp_relaxed.owl Staring eyes 2017-04-22 14:03:28+00:00 This is a neurological anomaly that can be observed in Parkinson and certain other diseases. HPO:probinson owl:Class HP:0032300 biolink:NamedThing Increased circulating IgG4 level An abnormally increased concentration of the IgG4 subtype in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 22:56:05+00:00 Allergens are often good inducers of IgG1 and IgG4, in addition to IgE. IgG4 antibodies are often formed following repeated or long-term exposure to antigen in a non-infectious setting and may become the dominant subclass. peter owl:Class HP:0040291 biolink:NamedThing Skeletal muscle steatosis tmpxe7fu0cj_hp_relaxed.owl Steatosis of skeletal muscles|Steatosis of skeletal muscle owl:Class HP:0033362 biolink:NamedThing Recurrent coughing spasms Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing. tmpxe7fu0cj_hp_relaxed.owl 2020-12-16 11:33:03+00:00 peter owl:Class HP:0032524 biolink:NamedThing Long thumb Length of the thumb is greater than normal. tmpxe7fu0cj_hp_relaxed.owl 2019-05-26 11:38:36+00:00 peter owl:Class HP:0030662 biolink:NamedThing Vitreous inflammatory cells The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073117 Normally, there are no leukocytes in the vitreous as this is an immune-privileged site. If the blood-retinal barrier is disrupted, then leukocytes gain access to the vitreous. Vitreous inflammatory cells can be measured by flow cytometry of vitreous fluid. ORCID:0000-0003-0986-4123 owl:Class GO:0008482 biolink:NamedThing sulfite oxidase activity Catalysis of the reaction: H(2)O + O(2) + sulfite = H(2)O(2) + H(+) + sulfate. tmpxe7fu0cj_hp_relaxed.owl sulphite oxidase activity|sulfite:oxygen oxidoreductase activity EC:1.8.3.1|MetaCyc:SULFITE-OXIDASE-RXN|RHEA:24600|MetaCyc:PWY-5326|Reactome:R-HSA-1614544|KEGG_REACTION:R00533 Note that this term has a MetaCyc pathway reference as the pathway only has a single step. molecular_function owl:Class GO:0016670 biolink:NamedThing oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces oxygen. tmpxe7fu0cj_hp_relaxed.owl oxidoreductase activity, acting on sulphur group of donors, oxygen as acceptor EC:1.8.3.- molecular_function owl:Class HP:0010744 biolink:NamedThing Absent metatarsal bone A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Aplasia of the metatarsal bones|Absent long bone of foot UMLS:C4021232 doelkens 2010-04-22T04:30:18Z human_phenotype owl:Class HP:0040240 biolink:NamedThing Increased ratio of VWF propeptide to VWF antigen An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280707 Some forms of von Willebrand Disease Type I (particularly those previously classified as type IC) and Acquired von Willebrand Disease. This term has been requested and created by members of the BRIDGE consortium owl:Class CHEBI:33303 biolink:NamedThing chalcogen Any p-block element belonging to the group 16 family of the periodic table. tmpxe7fu0cj_hp_relaxed.owl Chalkogene|calcogenos|group 16 elements|anfigeno|calcogeno|chalcogens|Chalkogen|chalcogene|group VI elements|anfigenos|chalcogen|chalcogenes PMID:17084588 chebi_ontology owl:Class HP:0010657 biolink:NamedThing Patchy reduction of bone mineral density Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023755 doelkens 2010-02-25T10:32:54Z human_phenotype owl:Class HP:0012425 biolink:NamedThing Stercoral ulcer An ulcer of the colon due to pressure and irritation from retained fecal masses. tmpxe7fu0cj_hp_relaxed.owl Colon ulcer|Recto-sigmoid colon stercoral ulcer UMLS:C0333302|SNOMEDCT_US:38084005|SNOMEDCT_US:235766003|SNOMEDCT_US:46040000|UMLS:C0267491 Stercoral ulceration is the loss of bowel integrity from the pressure effects of inspissated feces. The lesion usually occurs in constipated, bedridden patients and presents as an isolated lesion in the rectosigmoid area. peter 2013-11-12T10:28:18Z human_phenotype owl:Class HP:0410378 biolink:NamedThing Decreased proportion of naive CD4 T cells An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Decreased proportion of naive thymus-derived CD4-positive, alpha-beta T cells|Reduced proportion of naive CD4 T cells|Decreased proportion of CD4+CD45RA+ cells owl:Class HP:0003852 biolink:NamedThing Normal density transverse bands in metaphyses of the upper limbs tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025553 human_phenotype owl:Class HP:0007100 biolink:NamedThing Progressive ventriculomegaly tmpxe7fu0cj_hp_relaxed.owl UMLS:C1865119 owl:Class HP:0025383 biolink:NamedThing Dorsocervical fat pad An area of fat accumulation at the back of the neck in the form of a hump. tmpxe7fu0cj_hp_relaxed.owl Buffalo hump 2017-04-21 11:39:02+00:00 HPO:probinson owl:Class HP:0006375 biolink:NamedThing Dumbbell-shaped femur The femur is shortened and displays flaring (widening) of the metaphyses. tmpxe7fu0cj_hp_relaxed.owl Dumbbell-shaped thighbone UMLS:C4025052 owl:Class HP:0012879 biolink:NamedThing Anejaculation Inability to ejaculate. tmpxe7fu0cj_hp_relaxed.owl Ejaculatory incompetence SNOMEDCT_US:42288005|UMLS:C0278106|SNOMEDCT_US:248782001 hecht 2014-06-09T11:33:16Z human_phenotype owl:Class HP:0025452 biolink:NamedThing Pyoderma gangrenosum A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer. tmpxe7fu0cj_hp_relaxed.owl 2017-05-04 10:30:38+00:00 Pyoderma gangrenosum can occur on any skin surface, but is most commonly seen on the legs. Patients are often systemically unwell with symptoms such as fever, malaise, arthralgia, and myalgia. Lesions are usually painful and the pain can be severe. When the lesions heal the scars are often cribriform. About half of the cases are associated with underlying systemic conditions, such as inflammatory bowel disease, arthritis, and haematological malignancies. HPO:probinson owl:Class GO:0061046 biolink:NamedThing regulation of branching involved in lung morphogenesis Any process that modulates the rate, frequency, or extent of the process in which a highly ordered sequence of patterning events generates the branched structures of the lung, consisting of reiterated combinations of bud outgrowth, elongation, and dichotomous subdivision of terminal units. tmpxe7fu0cj_hp_relaxed.owl dph 2010-02-25T10:41:38Z biological_process owl:Class UBERON:0006098 biolink:NamedThing basal nuclear complex The deep nuclei of telencephalic origin found in the basal region of the forebrain. tmpxe7fu0cj_hp_relaxed.owl basal ganglia (anatomic)|basal nuclei|basal ganglia|corpus striatum (Savel'ev)|basal nuclei of the forebrain|ganglia basales EV:0100182|BAMS:BNC|BIRNLEX:1629|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=224|BAMS:BG|UMLS:C0004781 uberon owl:Class HP:0006420 biolink:NamedThing Asymmetric radial dysplasia The presence of asymmetric developmental dysplasia of the radius. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969396 human_phenotype owl:Class HP:0040061 biolink:NamedThing Osteosclerosis of the radius tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022460 HPO:skoehler owl:Class HP:0007589 biolink:NamedThing Aplasia cutis congenita on trunk or limbs A developmental defect resulting in the congenital absence of skin on the trunk or the limbs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1863496 In future versions of the HPO this term will be made obsolete and will be replaced by terms for Aplasia cutis congenita on trunk and a term for Aplasia cutis congenita on the limbs. human_phenotype owl:Class HP:0030551 biolink:NamedThing Visual acuity light perception with projection tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073025 owl:Class HP:0030994 biolink:NamedThing Pancreas divisum A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present. tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 13:56:45+00:00 In pancreas divisum, the majority of the pancreatic gland drains into the minor papilla via the duct of Santorini, whereas the posterior head and uncinate process drain into the major papilla via the duct of Wirsung with the common bile duct. Although most patients are asymptomatic, in some patients, this anomaly is associated with recurrent acute pancreatitis because of inadequate drainage of pancreatic secretions via the minor papilla. peter owl:Class HP:0020195 biolink:NamedThing IgG heavy chain paraproteinemia An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. tmpxe7fu0cj_hp_relaxed.owl Gamma heavy-chain disease robinp 2019-09-05 14:04:32+00:00 owl:Class HP:0000582 biolink:NamedThing Upslanted palpebral fissure The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. tmpxe7fu0cj_hp_relaxed.owl Upward slanted palpebral fissures|Upslanting palpebral fissures|Upslanted palpebral fissures|Upward slanting of the opening between the eyelids|Mongoloid slant|Upward slanting of palpebral fissures|Upward slanting palpebral fissures SNOMEDCT_US:246799009|UMLS:C0423109 human_phenotype owl:Class PATO:0002078 biolink:NamedThing hollow A quality inhering in a bearer by virtue of the bearer's having an empty space or cavity within. tmpxe7fu0cj_hp_relaxed.owl 2009-09-18T02:19:20Z quality owl:Class HP:0004057 biolink:NamedThing Mitten deformity Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity. tmpxe7fu0cj_hp_relaxed.owl Pseudosyndactyly UMLS:C1969236 Mitten deformity is also referred to as pseudosyndactyly, which should not be confused with true syndactyly (actual and complete fusion of fingers). Antenatally, pseudosyndactyly can be misinterpreted as syndactyly. human_phenotype owl:Class HP:0005532 biolink:NamedThing Macrocytic dyserythropoietic anemia tmpxe7fu0cj_hp_relaxed.owl Macrocytic dyserythropoietic anaemia UMLS:C4025183 human_phenotype owl:Class CHEBI:77119 biolink:NamedThing EC 1.1.1.189 (prostaglandin-E2 9-reductase) inhibitor An EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor that interferes with the action of prostaglandin-E2 9-reductase (EC 1.1.1.189). tmpxe7fu0cj_hp_relaxed.owl PGE-9-ketoreductase inhibitor|reductase, 15-hydroxy-9-oxoprostaglandin inhibitors|prostaglandin E2-9-oxoreductase inhibitors|PGE-9-ketoreductase inhibitors|PGE2 9-oxoreductase inhibitors|9-keto-prostaglandin E2 reductase inhibitors|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 9-oxidoreductase inhibitors|prostaglandin-E2 9-reductase (EC 1.1.1.189) inhibitor|9-keto-prostaglandin E2 reductase inhibitor|EC 1.1.1.189 inhibitor|prostaglandin 9-ketoreductase inhibitors|prostaglandin E 9-ketoreductase inhibitor|PGE2-9-ketoreductase inhibitors|EC 1.1.1.189 inhibitors|prostaglandin 9-ketoreductase inhibitor|PGE2-9-OR inhibitors|prostaglandin E2-9-oxoreductase inhibitor|prostaglandin E 9-ketoreductase inhibitors|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 9-oxidoreductase inhibitor|PGE2-9-ketoreductase inhibitor|PGE2-9-OR inhibitor|9-ketoprostaglandin reductase inhibitor|reductase, 15-hydroxy-9-oxoprostaglandin inhibitor|EC 1.1.1.189 (prostaglandin-E2 9-reductase) inhibitors|prostaglandin-E2 9-reductase (EC 1.1.1.189) inhibitors|9-ketoprostaglandin reductase inhibitors|PGE2 9-oxoreductase inhibitor Wikipedia:Prostaglandin-E2_9-reductase chebi_ontology owl:Class HP:0011542 biolink:NamedThing Criss-cross atrioventricular valves with superior-inferior ventricles Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023309 peter 2012-04-07T10:55:06Z human_phenotype owl:Class HP:0011541 biolink:NamedThing Criss-cross atrioventricular valves Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023310 peter 2012-04-07T10:51:57Z human_phenotype owl:Class GO:0003145 biolink:NamedThing embryonic heart tube formation via epithelial folding The process that gives rise to the embryonic heart tube by the cells of the heart field along a linear axis. tmpxe7fu0cj_hp_relaxed.owl tb 2009-09-22T04:26:03Z biological_process owl:Class HP:0025181 biolink:NamedThing Abdominal aseptic abscess An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently. tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 20:11:28+00:00 HPO:probinson owl:Class HP:0030832 biolink:NamedThing Vitreous strands Fiber- or rope-like opacities located within the vitreous humor. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:28167005|UMLS:C0271408 owl:Class HP:0033126 biolink:NamedThing Cutaneous necrosis Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin. tmpxe7fu0cj_hp_relaxed.owl Skin necrosis 2020-09-05 13:12:04+00:00 peter owl:Class NBO:0000543 biolink:NamedThing hyperdipsia "A pathological drinking behavior characterised by an excessive relative temporal desire to drink." [NBO:GVG] MP:0005111 tmpxe7fu0cj_hp_relaxed.owl 2011-04-10T10:41:10Z George Gkoutos behavior_ontology 'participates in' some ('regulation of drinking behavior' and (has_quality some ('increased frequency' and (towards some 'liquid consumption') and (owl:qualifier some 'temporally extended')))) owl:Class HP:0001691 biolink:NamedThing Muscular subvalvular aortic stenosis A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract. tmpxe7fu0cj_hp_relaxed.owl Muscular subaortic stenosis UMLS:C3887554 human_phenotype owl:Class HP:0030350 biolink:NamedThing Erythematous papule A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. tmpxe7fu0cj_hp_relaxed.owl Red-blue papule UMLS:C0747241 owl:Class CL:0000681 biolink:NamedThing radial glial cell A cell present in the developing CNS. Functions as both a precursor cell and as a scaffold to support neuronal migration. tmpxe7fu0cj_hp_relaxed.owl forebrain radial glial cell Unlike that of mammals, the brain of adult teleost fish exhibits an intense and widespread neurogenic activity as a result of the persistence of radial glial cells acting as neural progenitors throughout life. cell owl:Class UBERON:0022358 biolink:NamedThing placenta blood vessel A blood vessel of the placenta. tmpxe7fu0cj_hp_relaxed.owl placental vessel uberon owl:Class HP:0032151 biolink:NamedThing Episodic eosinophilia Recurrent episodes of marked eosinophilia that resolve spontaneously. tmpxe7fu0cj_hp_relaxed.owl 2018-12-02 12:56:00+00:00 peter owl:Class HP:0001223 biolink:NamedThing Pointed proximal second through fifth metacarpals All of the metacarpal bones of the hand have a pointed proximal appearance. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1854787 human_phenotype owl:Class GO:0031348 biolink:NamedThing negative regulation of defense response Any process that stops, prevents, or reduces the frequency, rate or extent of a defense response. tmpxe7fu0cj_hp_relaxed.owl inhibition of defense response|down regulation of defense response|downregulation of defense response|down-regulation of defense response biological_process owl:Class HP:0033181 biolink:NamedThing Spinal epidural abscess Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect ofthe abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina. Left untreated, the infection can lead to sensory loss,muscle weakness, visceral dysfunction, sepsis, and even death. Early diagnosis is essential to limit mor-bidity and neurologic injury. The classic triad of fever, axial pain, and neurological deficit occurs in as few as 13 percent of patients, highlighting the diagnosticchallenge associated with SEA. tmpxe7fu0cj_hp_relaxed.owl A severe pyogenic infection of the epidural space 2020-09-28 22:20:47+00:00 peter owl:Class CL:0002540 biolink:NamedThing mesenchymal stem cell of the bone marrow A mesenchymal stem cell that is part of the bone marrow. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-02-28T01:47:47Z cell owl:Class PATO:0000188 biolink:NamedThing coordination A behavioral quality inhering in a bearer by virtue of the bearer's having or lacking skillful and effective interaction of movement. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:0061581 biolink:NamedThing corneal epithelial cell migration The orderly movement of a corneal epithelial cell from one site to another, often during the development of a multicellular organism. tmpxe7fu0cj_hp_relaxed.owl dph 2013-12-23T07:28:29Z biological_process owl:Class GO:0002793 biolink:NamedThing positive regulation of peptide secretion Any process that activates or increases the frequency, rate, or extent of peptide secretion. tmpxe7fu0cj_hp_relaxed.owl upregulation of peptide secretion|stimulation of peptide secretion|up regulation of peptide secretion|up-regulation of peptide secretion|activation of peptide secretion biological_process owl:Class HP:0031932 biolink:NamedThing Aorto-left ventricular tunnel Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity. tmpxe7fu0cj_hp_relaxed.owl Left ventricle to aorta tunnel 2018-07-04 20:38:35+00:00 ALVT is extremely rare with incidence as low as 0.001% of all congenital heart diseases. Most of the patients develop symptoms of heart failure during the first year of life. The onset, severity and progression of heart failure vary and ranges from in-utero fetal death to asymptomatic adulthood. peter owl:Class GO:0048857 biolink:NamedThing neural nucleus development The biological process whose specific outcome is the progression of a neural nucleus from its initial condition to its mature state. A neural nucleus is an anatomical structure consisting of a discrete aggregate of neuronal soma. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0012133 biolink:NamedThing Erythroid hypoplasia Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl Erythroid hypoplasia in the bone marrow|Erythroblastopenia MSH:D000741|SNOMEDCT_US:167923006|UMLS:C0178416|SNOMEDCT_US:41614006|UMLS:C0542035 peter 2012-09-16T07:21:19Z human_phenotype owl:Class HP:0002361 biolink:NamedThing Psychomotor deterioration Loss of previously present mental and motor abilities. tmpxe7fu0cj_hp_relaxed.owl Psychomotor degeneration UMLS:C1836842 owl:Class HP:0032659 biolink:NamedThing Non-convulsive status epilepticus with coma A type of status epilepticus without prominent motor symptoms and in the presence of coma. tmpxe7fu0cj_hp_relaxed.owl Subtle status epilepticus This includes the entity subtle status epilepticus proposed by some authors as the late, burned-out stage of generalized convulsive status epilepticus characterized by (subtle rather than predominant) focal or multifocal myoclonic movements, coma, and pseudoperiodic epileptiform discharges against a slow low-voltage background on EEG. peter owl:Class HP:0033220 biolink:NamedThing 2-ethylhydracylic aciduria An increased concentration of 2-ethylhydracylic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Elevated urinary 2-methylbutyrylglycine|Elevated urinary 2-ethylhydracylic acid 2020-10-24 12:39:42+00:00 Isolated excretion of 2-ethylhydracrylic acid is the hallmark of short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD), a defect in the proximal pathway of L-isoleucine oxidation. peter owl:Class GO:0045912 biolink:NamedThing negative regulation of carbohydrate metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate. tmpxe7fu0cj_hp_relaxed.owl inhibition of carbohydrate metabolic process|down regulation of carbohydrate metabolic process|down-regulation of carbohydrate metabolic process|downregulation of carbohydrate metabolic process|negative regulation of carbohydrate metabolism biological_process owl:Class HP:0000171 biolink:NamedThing Microglossia Decreased length and width of the tongue. tmpxe7fu0cj_hp_relaxed.owl Hypoglossia|Hypoplastic tongue|Lingual hypoplasia|Decreased size of tongue|Rudimentary tongue|Underdevelopment of the tongue|Hypoplasia of the tongue|Abnormally small tongue|Small tongue UMLS:C0426492|SNOMEDCT_US:32614006|MSH:D014060|SNOMEDCT_US:249380003|UMLS:C0025988 Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. HP:0009079|HP:0000226 human_phenotype owl:Class HP:0030246 biolink:NamedThing Maternal first trimester fever The occurence of fever in a mother during the first trimester of pregnancy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022561 owl:Class HP:0030244 biolink:NamedThing Maternal fever in pregnancy The occurence of an elevated body temperature of the mother during pregnancy. tmpxe7fu0cj_hp_relaxed.owl Maternal fever during pregnancy UMLS:C4021041 There is evidence to suugest that maternal fever during pregnancy may negatively affect offspring healthneural tube defects, congenital heart defects, and oral clefts, in which meta-analyses suggested between a 1.5- and nearly 3-fold increased risk with fever exposure in the first trimester. owl:Class HP:0003172 biolink:NamedThing Abnormality of the pubic bone An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the pubis|Abnormality of the pubic bones|Abnormality of the pubic bone UMLS:C4021738 human_phenotype owl:Class HP:0005891 biolink:NamedThing Progressive forearm bowing Progressive bending or abnormal curvature of the forearm skeleton. tmpxe7fu0cj_hp_relaxed.owl Progressive forearm curvature UMLS:C3152020 human_phenotype owl:Class HP:0020108 biolink:NamedThing Unusual parasitic infection An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 19:30:24+00:00 robinp owl:Class HP:0100052 biolink:NamedThing Small epiphyses of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Small end part of the 2nd toe bone UMLS:C4022369 doelkens 2010-06-24T09:58:18Z human_phenotype owl:Class CHEBI:33282 biolink:NamedThing antibacterial agent A substance (or active part thereof) that kills or slows the growth of bacteria. tmpxe7fu0cj_hp_relaxed.owl antibacterials|bactericides|antibacterial agents|bactericide chebi_ontology owl:Class HP:0010970 biolink:NamedThing Blood group antigen abnormality An abnormality of an erythrocyte cell surface molecule. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023620 During development, the human immune system recognizes antigens of the body as 'self' and does not generate antibodies against them. peter 2011-02-06T12:37:33Z human_phenotype owl:Class UBERON:8400024 biolink:NamedThing subcapsular region of liver Region of liver parenchyma immediately below the capsule. This region is frequently specified in pathology diagnoses. tmpxe7fu0cj_hp_relaxed.owl liver subcapsular region|subcapsular tissue of liver|liver subcapsular tissue https://orcid.org/0000-0003-2034-601X uberon owl:Class HP:0033764 biolink:NamedThing Death in middle age Death between the age of 40 and 60 years. tmpxe7fu0cj_hp_relaxed.owl 2021-04-30 11:20:49+00:00 peter owl:Class HP:0032562 biolink:NamedThing Tapered sperm head Sperm with cigar-shaped heads that gradually dimish in diameter (taper). tmpxe7fu0cj_hp_relaxed.owl 2019-06-15 00:28:27+00:00 peter owl:Class HP:0003206 biolink:NamedThing Decreased activity of NADPH oxidase tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844394 human_phenotype owl:Class HP:0004358 biolink:NamedThing Abnormality of superoxide metabolism tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025340 NADPH oxidase catalyzes the production of superoxide, which in turn can react to form hydrogen peroxide, HOCl, and hydroxyl radical. Together, these oxygen-derived species participate in bacterial killing. peter 2008-03-17T03:22:00Z human_phenotype owl:Class GO:1905900 biolink:NamedThing negative regulation of smooth muscle tissue development Any process that stops, prevents or reduces the frequency, rate or extent of smooth muscle tissue development. tmpxe7fu0cj_hp_relaxed.owl downregulation of smooth muscle tissue development|down-regulation of smooth muscle tissue development|inhibition of smooth muscle tissue development|down regulation of smooth muscle tissue development bhm 2017-02-01T14:31:24Z biological_process owl:Class HP:0010982 biolink:NamedThing Polygenic inheritance A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1148552|MSH:D020412 peter 2011-02-08T10:12:39Z human_phenotype owl:Class HP:0005791 biolink:NamedThing Cortical thickening of long bone diaphyses Abnormal thickening of the cortex of the diaphyseal region of long bones. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025133 human_phenotype owl:Class MAXO:0010209 biolink:NamedThing pancreatic ultrasonography The use of ultrasound to produce images of structures in the pancreas. tmpxe7fu0cj_hp_relaxed.owl sonography of pancreas|ultrasonography of pancreas|pancreas diagnostic sonography|pancreas ultrasound examination|pancreas ultrasound imaging procedure|pancreas medical ultrasound|pancreas ultrasound procedure|pancreas sonography 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-2981 owl:Class HP:0003226 biolink:NamedThing Rectilinear intracellular accumulation of autofluorescent lipopigment storage material An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern. tmpxe7fu0cj_hp_relaxed.owl Rectilinear profiles ultrastructurally UMLS:C1850447 human_phenotype owl:Class HP:0025014 biolink:NamedThing Subcutaneous spheroids Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray. tmpxe7fu0cj_hp_relaxed.owl 2016-08-12 11:18:11+00:00 This feature can be observed in individuals with the classic type of Ehlers Danlos syndrome. HPO:probinson owl:Class HP:0001482 biolink:NamedThing Subcutaneous nodule Slightly elevated lesions on or in the skin with a diameter of over 5 mm. tmpxe7fu0cj_hp_relaxed.owl Firm lump under the skin|Subcutaneous nodules|Growth of abnormal tissue under the skin|Nodule below the skin|Multiple, subcutaneous nodules UMLS:C0151811|UMLS:C0746926|SNOMEDCT_US:95325000 Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. HP:0005903 human_phenotype owl:Class HP:0032318 biolink:NamedThing Family history of heart disease A close blood relative had heart disease. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 11:45:48+00:00 peter owl:Class HP:0003826 biolink:NamedThing Stillbirth Death of the fetus in utero after at least 20 weeks of gestation. tmpxe7fu0cj_hp_relaxed.owl Fetal death|Stillbirth|Foetal death|Stillborn MSH:D050497|SNOMEDCT_US:237364002|UMLS:C0015927|SNOMEDCT_US:276507005|MSH:D005313|UMLS:C0595939 HP:0001624|HP:0001625 owl:Class CHEBI:24315 biolink:NamedThing glutamic acid derivative An amino acid derivative resulting from reaction of glutamic acid at the amino group or either of the carboxy groups, or from the replacement of any hydrogen by a heteroatom. The definition normally excludes peptides containing glutamic acid residues. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0033999 biolink:NamedThing Bronchial hemorrhage Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy. tmpxe7fu0cj_hp_relaxed.owl Bronchial bleeding 2021-08-21 14:20:44+00:00 peter owl:Class HP:0033307 biolink:NamedThing Increased circulating fetuin A concentration An elevation above normal of fetuin A in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 22:12:34+00:00 peter owl:Class HP:0033305 biolink:NamedThing Abnormal circulating fetuin A concentration Any deviation from the normal concentration of fetuin A in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 22:09:58+00:00 Fetuin-A (FetA) is a 64-kDa glycoprotein that is found in relatively high concentrations in human serum. In human adults, FetA is mainly expressed and secreted from the liver and adipose tissue. Epidemiologic research consistently observes elevated circulating FetA in obesity and related complications, such as type 2 diabetes mellitus, the metabolic syndrome, and nonalcoholic fatty liver disease. peter owl:Class HP:0500057 biolink:NamedThing Retinopathy of prematurity stage 5a An open funnel detachment of the retina with generally traction in all four quadrants. tmpxe7fu0cj_hp_relaxed.owl ROP stage 5a 2018-02-19 19:16:16+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0002515 biolink:NamedThing Waddling gait Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. tmpxe7fu0cj_hp_relaxed.owl 'Waddling' gait|Waddling walk UMLS:C0231712|MSH:D020233|SNOMEDCT_US:271706000 human_phenotype owl:Class HP:0025512 biolink:NamedThing Skin-colored papule A papule with the same color as the surrounding skin. tmpxe7fu0cj_hp_relaxed.owl Flesh-colored papule 2017-05-15 01:07:06+00:00 HPO:probinson owl:Class HP:0030906 biolink:NamedThing Suck reflex A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched. tmpxe7fu0cj_hp_relaxed.owl Persistent nutritive suckle swallow owl:Class HP:0030622 biolink:NamedThing Abnormal foveal pit on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073092 owl:Class CHEBI:77968 biolink:NamedThing humectant A compound that is used to keep a substance moist. tmpxe7fu0cj_hp_relaxed.owl humectants Wikipedia:humectant chebi_ontology owl:Class HP:0033071 biolink:NamedThing Impaired task monitoring Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class MAXO:0010351 biolink:NamedThing abdominal radiographic procedure Use of an imaging test that uses small amounts of radiation to produce pictures of abdomen. tmpxe7fu0cj_hp_relaxed.owl abdomen radiogram procedure|abdomen X-ray procedure|abdominal X-ray procedure|abdominal radiography|radiograph of abdomen|radiography of abdomen 2020-04-07T20:39:14Z NCIT:C38102 http://orcid.org/0000-0001-7941-2961 owl:Class HP:0041184 biolink:NamedThing Fractured middle phalanx of manual digit 4 A partial or complete breakage of the middle phalanx of manual digit 4. tmpxe7fu0cj_hp_relaxed.owl bone middle phalanx of manual digit 4 owl:Class UBERON:0005006 biolink:NamedThing mucosa of renal pelvis A mucosa that is part of a renal pelvis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucosa of organ of kidney pelvis|renal pelvis organ mucosa|kidney pelvis mucous membrane|renal pelvis mucosa|organ mucosa of kidney pelvis|pelvis of ureter mucous membrane|mucous membrane of pelvis of ureter|renal pelvic mucosa|kidney pelvis mucosa|mucosa of kidney pelvis|tunica mucosa pelvis renalis|mucosa of organ of pelvis of ureter|pelvis of ureter mucosa|mucosa of organ of renal pelvis|renal pelvis mucosa of organ|organ mucosa of renal pelvis|pelvis of ureter mucosa of organ|mucous membrane of renal pelvis|pelvis of ureter organ mucosa|kidney pelvis organ mucosa|mucous membrane of kidney pelvis|kidney pelvis mucosa of organ|organ mucosa of pelvis of ureter|mucosa of pelvis of ureter|renal pelvis mucous membrane FMA:17931 uberon owl:Class HP:0006712 biolink:NamedThing Aplasia/Hypoplasia of the ribs tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped ribs|Hypoplastic or missing ribs|Absent/small ribs UMLS:C1847363 peter 2008-03-29T03:54:00Z HP:0006636 human_phenotype owl:Class HP:0008730 biolink:NamedThing Female external genitalia in individual with 46,XY karyotype The presence of female external genitalia in a person with a male karyotype. tmpxe7fu0cj_hp_relaxed.owl Males with female external genitalia UMLS:C1848178 HP:0008719 human_phenotype owl:Class HP:0030203 biolink:NamedThing Unfavorable response of muscle weakness to acetylcholine esterase inhibitors Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. tmpxe7fu0cj_hp_relaxed.owl Unfavourable response of muscle weakness to acetylcholine esterase inhibitors UMLS:C4022580 An acetylcholinesterase inhibitor inhibits acetylcholinesterase from breaking down acetylcholine, thereby increasing both the level and duration of action of the neurotransmitter acetylcholine. For instance, edrophonium is a readily reversible acetylcholinesterase inhibitor that can be used to differentiate myasthenia gravis from cholinergic crisis. Edrophonium would improve muscle weakness in myasthenia gravis but not in cholinergic crisis. owl:Class HP:0002168 biolink:NamedThing Scanning speech An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly. tmpxe7fu0cj_hp_relaxed.owl Explosive speech UMLS:C0278184|SNOMEDCT_US:77420001|SNOMEDCT_US:102935005|UMLS:C0522198 owl:Class HP:0033843 biolink:NamedThing Postprandial fullness Feeling excessively full after meals. tmpxe7fu0cj_hp_relaxed.owl 2021-05-30 20:40:29+00:00 peter owl:Class HP:0020106 biolink:NamedThing Severe giardiasis An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 19:25:29+00:00 Several reports of giardiasis in immunocompromised patients exist. robinp owl:Class UBERON:0004895 biolink:NamedThing alveolar smooth muscle Alveolar smooth muscle is a type of non-striated muscle, found within the walls of the alveolus. tmpxe7fu0cj_hp_relaxed.owl EMAPA:35122|MA:0002759 uberon owl:Class HP:0011550 biolink:NamedThing Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023304 peter 2012-04-07T11:32:09Z human_phenotype owl:Class HP:0004048 biolink:NamedThing Narrow joint spaces of wrist tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025417 human_phenotype owl:Class HP:0031164 biolink:NamedThing Growth arrest lines Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone. tmpxe7fu0cj_hp_relaxed.owl Growth resumption lines|Harris lines 2017-06-18 18:03:33+00:00 peter owl:Class HP:0031367 biolink:NamedThing Metaphyseal striations Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). tmpxe7fu0cj_hp_relaxed.owl Striated metaphysis 2017-09-02 01:05:37+00:00 peter owl:Class HP:0410395 biolink:NamedThing Increased proportion of effector memory CD8-positive, alpha-beta T cells An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0030207 biolink:NamedThing Paradoxical respiration Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing. tmpxe7fu0cj_hp_relaxed.owl Flail chest|Paradoxical breathing SNOMEDCT_US:78011002|MSH:D005409|UMLS:C0016196|UMLS:C0231852|SNOMEDCT_US:12025005 owl:Class HP:0007129 biolink:NamedThing Cerebellar medulloblastoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024934 human_phenotype owl:Class HP:0002885 biolink:NamedThing Medulloblastoma A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0025149|NCIT:C3222|SNOMEDCT_US:83217000|MSH:D008527|SNOMEDCT_US:443333004 Medulloblastoma is a highly malignant primary brain tumor that originates in the cerebellum or posterior fossa and belonging to the family of cranial primitive neuroectodermal tumors. human_phenotype owl:Class HP:0004288 biolink:NamedThing Pseudoepiphyses of hand bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025368 human_phenotype owl:Class HP:0007554 biolink:NamedThing Confetti hypopigmentation pattern of lower leg skin tmpxe7fu0cj_hp_relaxed.owl Confetti hypopigmentation pattern of lower leg skin UMLS:C4024847 human_phenotype owl:Class HP:0011738 biolink:NamedThing Corticotropin-releasing hormone receptor defect Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor. tmpxe7fu0cj_hp_relaxed.owl CRHR defect|Corticotropin-releasing hormone receptor (CRHR) resistance UMLS:C4023210|UMLS:C4020745 peter 2012-04-21T09:11:04Z human_phenotype owl:Class HP:0003998 biolink:NamedThing Constricted radial neck tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025458 human_phenotype owl:Class HP:0002842 biolink:NamedThing Recurrent Burkholderia cepacia infections Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025673 human_phenotype owl:Class HP:0033954 biolink:NamedThing Cortical radial artery hypercellularity Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. tmpxe7fu0cj_hp_relaxed.owl Endoarterial hypercellularity within interlobular artery 2021-06-24 12:26:44+00:00 peter owl:Class HP:0007544 biolink:NamedThing Piebaldism Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:718122005|MSH:D016116|SNOMEDCT_US:6479008|UMLS:C0080024 human_phenotype owl:Class HP:0500059 biolink:NamedThing Retinopathy of prematurity zone I Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula. tmpxe7fu0cj_hp_relaxed.owl ROP zone 1 2018-02-19 19:24:42+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0011775 biolink:NamedThing Thyroid macrofollicular adenoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023194 peter 2012-04-22T06:01:42Z human_phenotype owl:Class HP:0010226 biolink:NamedThing Abnormality of the epiphysis of the 5th metacarpal Any abnormality of the epiphysis of the fifth metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the end part of the long bone of pinkie finger|Abnormality of the end part of the long bone of pinky finger|Abnormality of the end part of the long bone of little finger UMLS:C4023958 doelkens 2009-07-02T04:13:00Z human_phenotype owl:Class HP:0012481 biolink:NamedThing Cerebral venous angioma A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system. tmpxe7fu0cj_hp_relaxed.owl Developmental Venous Anomaly UMLS:C1956261|MSH:D020787 DVA is characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system. peter 2013-11-28T08:03:08Z human_phenotype owl:Class HP:0410054 biolink:NamedThing Decreased circulating GABA concentration A decrease in the level of GABA in the serum. tmpxe7fu0cj_hp_relaxed.owl Decreased circulating GABA concentration|Decreased level of gamma-aminobutyric acid in serum 2018-01-27 01:56:12+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0007647 biolink:NamedThing Congenital extraocular muscle anomaly Congenital abnormality of the extraocular muscles. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024823 owl:Class HP:0006671 biolink:NamedThing Paroxysmal atrial tachycardia tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:195069001|UMLS:C0030587 human_phenotype owl:Class HP:0004763 biolink:NamedThing Paroxysmal supraventricular tachycardia An episodic form of supraventricular tachycardia with abrupt onset and termination. tmpxe7fu0cj_hp_relaxed.owl Episodic supraventricular tachycardia|Episodic rapid heart beat SNOMEDCT_US:67198005|UMLS:C0030590|UMLS:C4280507 PSVT is a term used to denote intermittent supraventricular tachycardia other than atrial fibrillation, atrial flutter and multifocal atrial tachycardia (AT). The major causes are atrioventricular reentrant tachycardia (AVNRT), atrioventricular reentrant tachycardia (AVRT), and sinoatrial node reentrant tachycardia (SNRT). HP:0004765 human_phenotype owl:Class HP:0032654 biolink:NamedThing Impaired flow-mediated arterial dilatation Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery. tmpxe7fu0cj_hp_relaxed.owl Endothelial dysfunction The diameter of the target artery is measured by high-resolution external vascular ultrasound in response to an increase in blood flow (causing shear-stress) during reactive hyperaemia (induced by cuff inflation and then deflation). This leads to endothelium-dependent dilatation; the response is contrasted with that to sublingual nitroglycerin, an endothelium-independent dilator. The artery is scanned and the diameter measured during three conditions; at baseline, during reactive hyperaemia (induced by inflation and then deflation of a sphygmomanometer cuff around the limb, distal to the scanned part of the artery) and finally after administration of sublingual nitroglycerin using a normal antianginal dose of 400 microgram (which causes endothelium-independent smooth muscle mediated vasodilatation). peter owl:Class HP:0033255 biolink:NamedThing Congenital lobar overinflation A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes. tmpxe7fu0cj_hp_relaxed.owl Congenital lobar emphysema 2020-11-27 19:32:15+00:00 Lobar overinflation is more commonly present in neonate or early infancy with life-threatening respiratory distress. The upper lobes are more frequently affected than the lower one. And more common in males (M:F = 3:1). On imaging, it classically presents on chest radiographs as a hyperlucent lung segment with overinflation and contralateral mediastinal shift. peter owl:Class HP:0032193 biolink:NamedThing Decreased low-density lipoprotein particle size An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-01-19 12:51:21+00:00 Elevated levels of low-density lipoprotein (LDL) cholesterol are associated with an increased risk of developing coronary artery disease. LDL particles are the major cholesterol-carrying lipoproteins in the blood circulation, consisting of a hydrophobic core of cholesterol esters and triglycerides surrounded by phospholipds, free cholesterol, and one molecule of apolipoprotein B-100 on the surface of the molecule. The LDL particle population is heterogeneous with the respect to size, density and composition. Distinct subpopulations vary in isoelectric point, electrical charge, hydrodynamic properties and immunoreactivity. peter owl:Class HP:0012109 biolink:NamedThing Angle closure glaucoma A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact). tmpxe7fu0cj_hp_relaxed.owl Primary angle closure glaucoma UMLS:C0017606|SNOMEDCT_US:392288006 Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. peter 2012-09-10T05:22:48Z human_phenotype owl:Class HP:0100118 biolink:NamedThing Pseudoepiphysis of the middle phalanx of the 2nd toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022303 doelkens 2010-06-24T10:05:37Z owl:Class HP:0031722 biolink:NamedThing Near esotropia An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved. tmpxe7fu0cj_hp_relaxed.owl Non-accomodative convergence excess esotropia 2018-01-13 14:06:56+00:00 peter owl:Class UBERON:0008324 biolink:NamedThing erectile tissue With numerous vascular spaces that may become engorged with blood. tmpxe7fu0cj_hp_relaxed.owl Examples: corpus cavernosum or penis or clitoris uberon owl:Class HP:0032404 biolink:NamedThing Testicular mass An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 18:42:56+00:00 The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. More precise HPO terms should be used if possible. This term should be used only if the etiology has not yet been clarified. peter owl:Class HP:0004771 biolink:NamedThing Premature graying of body hair tmpxe7fu0cj_hp_relaxed.owl Premature greying of body hair|Premature graying of body hair UMLS:C1849125 human_phenotype owl:Class UBERON:0009203 biolink:NamedThing internasal suture A suture joining the nasal bones. tmpxe7fu0cj_hp_relaxed.owl sutura internasalis|inter-nasal suture|nasal suture|internasal suture of skull FMA:52959 uberon owl:Class HP:0001409 biolink:NamedThing Portal hypertension Increased pressure in the portal vein. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0020541|SNOMEDCT_US:34742003|MSH:D006975 Portal hypertension is defined as portal vein pressures exceeding 5 mm Hg or portal vein to hepatic vein gradient of greater than 10 mm Hg. human_phenotype owl:Class HP:0009187 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 5th finger An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the outermost pinky finger bone|Bracket shaped end part of the outermost pinkie finger bone|Bracket shaped end part of the outermost little finger bone UMLS:C4024549 doelkens 2008-12-30T12:07:32Z human_phenotype owl:Class HP:0007131 biolink:NamedThing Acute demyelinating polyneuropathy Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024933 This is a bundled term used to refer to the symptomatology associated with the Guillain-Barre syndrome. human_phenotype owl:Class HP:0008114 biolink:NamedThing Metatarsal diaphyseal endosteal sclerosis Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1840420 human_phenotype owl:Class HP:0031178 biolink:NamedThing Fixed head retroflexion Head is bent in the posterior direction in a permanent fashion. tmpxe7fu0cj_hp_relaxed.owl 2017-06-18 20:28:29+00:00 peter owl:Class HP:0100434 biolink:NamedThing Bullet-shaped middle phalanx of the 3rd toe An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped middle bone of the 3rd toe UMLS:C4022093 human_phenotype owl:Class HP:0031144 biolink:NamedThing Coarsened hepatic echotexture The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography. tmpxe7fu0cj_hp_relaxed.owl 2017-06-11 19:31:31+00:00 peter owl:Class HP:0001357 biolink:NamedThing Plagiocephaly Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. tmpxe7fu0cj_hp_relaxed.owl Positional plagiocephaly|Rhomboid shaped cranium|Rhomboid shaped head|Asymmetry of the posterior cranium|Flattening of skull|Flattening of cranium|Flat head syndrome|Flat head|Asymmetry of the posterior head|Flattening of head|Asymmetry of the posterior skull|Rhomboid shaped skull|Deformational plagiocephaly|Flattening of cranial vault UMLS:C4072830|MSH:D059041|UMLS:C1450010|SNOMEDCT_US:21850008|SNOMEDCT_US:254024005|UMLS:C0265529|MSH:D049068|UMLS:C4280598|UMLS:C4280807|UMLS:C4280597 Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone. HP:0001121 owl:Class HP:0031272 biolink:NamedThing Pulmonary arterial atherosclerosis Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 20:44:11+00:00 Pulmonary artery atherosclerosis is less common than systemic arterial atherosclerosis. peter owl:Class HP:0200057 biolink:NamedThing Marcus Gunn pupil An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye. tmpxe7fu0cj_hp_relaxed.owl Relative afferent pupillary defect|Relative afferent pupil defect SNOMEDCT_US:247015002|UMLS:C0549122|SNOMEDCT_US:232122003 sebastiankohler 2012-11-18T12:14:22Z owl:Class HP:0000478 biolink:NamedThing Abnormality of the eye Any abnormality of the eye, including location, spacing, and intraocular abnormalities. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the eye|Abnormal eye|Eye disease MSH:D005128|UMLS:C0015397|SNOMEDCT_US:371409005|SNOMEDCT_US:19416009|UMLS:C0015393|MSH:D005124|SNOMEDCT_US:371405004 human_phenotype owl:Class HP:0005356 biolink:NamedThing Decreased serum complement factor I A reduced level of the complement component Factor I in circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1970257 human_phenotype owl:Class HP:0034047 biolink:NamedThing Rib osteolysis Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib. tmpxe7fu0cj_hp_relaxed.owl 2021-10-19 16:45:03+00:00 peter owl:Class HP:0033870 biolink:NamedThing Medullary peritubular capillary intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney. tmpxe7fu0cj_hp_relaxed.owl Intraluminal thrombi within medullary peritubular capillaries 2021-06-23 19:10:41+00:00 peter owl:Class HP:0030351 biolink:NamedThing Urticarial plaque A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072895 owl:Class HP:0032238 biolink:NamedThing Increased circulating metamyelocyte count An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1. tmpxe7fu0cj_hp_relaxed.owl 2019-01-26 17:27:06+00:00 peter owl:Class PATO:0002052 biolink:NamedThing decreased occurrence An occurrence which is relatively low. tmpxe7fu0cj_hp_relaxed.owl decreased incidence 2009-03-26T11:12:35Z quality owl:Class HP:0012665 biolink:NamedThing Moderately reduced ejection fraction A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022791 The normal range in adults is over 50 percent, and a moderate reduction can be defined as 30-39 percent. peter 2014-02-15T01:08:33Z human_phenotype owl:Class HP:0031493 biolink:NamedThing Glandular cell neoplasm A tumor that arises from a gland cell. tmpxe7fu0cj_hp_relaxed.owl 2017-09-18 00:42:25+00:00 peter owl:Class HP:0011858 biolink:NamedThing Reduced factor IX activity Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. tmpxe7fu0cj_hp_relaxed.owl Low factor IX activity UMLS:C4023159 Severe deficiency of factor IX underlies hemophilia B. peter 2012-05-26T11:35:57Z owl:Class HP:0031489 biolink:NamedThing Venous malformation of the lip A vascular malformation located in the lip that is related to abnormal vascular morphogenesis. tmpxe7fu0cj_hp_relaxed.owl 2017-09-18 00:26:17+00:00 peter owl:Class HP:0030081 biolink:NamedThing Punctate periventricular T2 hyperintense foci Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022658 owl:Class HP:0030891 biolink:NamedThing Periventricular white matter hyperintensities Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. tmpxe7fu0cj_hp_relaxed.owl PVWMH See also defintion for "Deep cerebral white matter hyperintensities". These two entities are in contra-distinction to each other. ORCID:0000-0002-5316-1399 owl:Class HP:0100553 biolink:NamedThing Hemihypertrophy of lower limb Overgrowth of only one leg. tmpxe7fu0cj_hp_relaxed.owl Overgrowth of one leg SNOMEDCT_US:205369009|UMLS:C0431928 doelkens 2010-12-21T03:58:40Z human_phenotype owl:Class HP:0020152 biolink:NamedThing Distal joint laxity Lack of stability of a distal joint (e.g., finger). tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-05 20:21:18+00:00 owl:Class PR:P50283 biolink:NamedThing T-cell antigen CD7 (mouse) A CD7 molecule that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl mCD7|Cd7|CD7 (mouse) UniProtKB:P50283 Category=organism-gene. protein owl:Class HP:0004841 biolink:NamedThing Reduced factor XII activity Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. tmpxe7fu0cj_hp_relaxed.owl Factor XII deficiency|Hageman factor deficiency UMLS:C0015526|MSH:D005175|SNOMEDCT_US:46981006 HP:0008286|HP:0005514|HP:0005551 human_phenotype owl:Class HP:0032839 biolink:NamedThing Bilateral symmetric neonatal sequential seizure Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs. tmpxe7fu0cj_hp_relaxed.owl No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic etiology. peter owl:Class CHEBI:60311 biolink:NamedThing thyroid hormone Any hormone produced by the thyroid gland tmpxe7fu0cj_hp_relaxed.owl thyroid hormones chebi_ontology owl:Class HP:0032520 biolink:NamedThing Masseter muscular weakness Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw. tmpxe7fu0cj_hp_relaxed.owl 2019-05-26 11:14:27+00:00 peter owl:Class HP:0025692 biolink:NamedThing Atelencephaly A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops). tmpxe7fu0cj_hp_relaxed.owl Atelencephaly can be differentiated from anencephaly by the presence of a skull and an intact scalp. Aprosencephaly is characterized by absence of the telencephalon and diencephalon (embryonic structure from which the thalamus develops). Atelencephaly is generally fatal. peterrobinson owl:Class HP:0010567 biolink:NamedThing Y-shaped metatarsals Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly. tmpxe7fu0cj_hp_relaxed.owl Y-shaped long bone of foot UMLS:C4023789 sandra1 2009-10-16T06:50:11Z human_phenotype owl:Class HP:0032517 biolink:NamedThing Majocchi's granuloma Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles. tmpxe7fu0cj_hp_relaxed.owl 2019-05-26 10:32:18+00:00 Majocchi's granuloma (MG) is classified into two forms, depending on the affected individual's health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities. The main cause of MG is Trichophyton rubrum, followed by T. mentagrophytes, T. violaceum, and T. tonsurans. However, several fungi, such as T. interdigitale, Microsporum canis, Nannizzia gypsea (former M. gypseum), Epidermophyton floccosum, and Aspergillus species, can also cause MG. peter owl:Class HP:0010865 biolink:NamedThing Oppositional defiant disorder An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0029121|SNOMEDCT_US:18941000|MSH:D019958 Oppositional defiant disorder is basically a persistent pattern of tantrums, arguing, and angry or disruptive behavior that goes beyond what can be considered normal. peter 2010-08-03T07:09:09Z human_phenotype owl:Class GO:0048320 biolink:NamedThing axial mesoderm formation The process that gives rise to the axial mesoderm. This process pertains to the initial formation of the structure from unspecified parts. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class PATO:0000634 biolink:NamedThing unilateral A spatial pattern inhering in a bearer by virtue of the bearer's involvement of only one part or side. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0005984 biolink:NamedThing Elevated maternal serum alpha-fetoprotein An elevation of alpha-feto protein in the maternal serum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0740927 human_phenotype owl:Class HP:0006254 biolink:NamedThing Elevated alpha-fetoprotein An increased concentration of alpha-fetoprotein. tmpxe7fu0cj_hp_relaxed.owl Increased serum alpha-fetoprotein|Alpha fetoprotein abnormal|Serum alpha-fetoprotein increased|Increased levels of alpha fetoprotein UMLS:C0235971|UMLS:C0476489 An elevation of alpha-feto protein, which is produced by the fetal liver and the yolk sac and may be increased in the serum of pregnant women with a fetus with some types of developmental anomaly such as open neural tube defects and omphalocele. peter 2008-03-28T09:17:00Z human_phenotype owl:Class HP:0025374 biolink:NamedThing Duplicated odontoid process The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates. tmpxe7fu0cj_hp_relaxed.owl 2017-04-08 13:00:41+00:00 The odontoid process forms from different ossification centers. Two centers normally appear on each side of the midline around the fifth or sixth month of fetal life. These two centers usually fuse by one year of age. When there is a delay in fusion, a longitudinal midline cleft may be seen. Duplication of the odontoid process most likely is the result of a lack of fusion of these two centers of ossification [from PMID:9367321]. HPO:probinson owl:Class PATO:0001512 biolink:NamedThing punctate A pattern inhering in a surface by virtue of the bearer's being marked by the presence of dots, punctures, points or pits. tmpxe7fu0cj_hp_relaxed.owl spotted|dotted|stippled quality owl:Class HP:0025265 biolink:NamedThing Stiff toe A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity. tmpxe7fu0cj_hp_relaxed.owl Stiff toe|Toe stiffness 2016-12-18 01:18:04+00:00 HPO:probinson owl:Class GO:0003272 biolink:NamedThing endocardial cushion formation The developmental process pertaining to the initial formation of an endocardial cushion. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-20T08:53:19Z biological_process owl:Class HP:0012365 biolink:NamedThing Hypophosphaturia An abnormally decreased phosphate concentration in the urine. tmpxe7fu0cj_hp_relaxed.owl Low urine phosphate levels UMLS:C0268077|SNOMEDCT_US:91632005 peter 2013-10-03T10:25:06Z human_phenotype owl:Class HP:0005025 biolink:NamedThing Hypoplastic distal humeri Underdevelopment of the distal portion of the humerus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968607 human_phenotype owl:Class HP:0001227 biolink:NamedThing Abnormality of the thenar eminence An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb. tmpxe7fu0cj_hp_relaxed.owl Thenar abnormality UMLS:C4021783 human_phenotype owl:Class HP:0004428 biolink:NamedThing Elfin facies This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. tmpxe7fu0cj_hp_relaxed.owl Elf-like facial features|Elf-like facial appearance|Leprechaun facies UMLS:C0332606|SNOMEDCT_US:69288002 peter 2008-03-18T09:43:00Z human_phenotype owl:Class HP:0008288 biolink:NamedThing Nonketotic hyperglycinemia tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:237939006|MSH:D020158|UMLS:C0751748 human_phenotype owl:Class NCBITaxon:33630 biolink:NamedThing Alveolata tmpxe7fu0cj_hp_relaxed.owl alveolates GC_ID:1 ncbi_taxonomy owl:Class HP:0010853 biolink:NamedThing EEG with periodic lateralized epileptiform discharges Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds). tmpxe7fu0cj_hp_relaxed.owl EEG: periodic lateralized epileptiform discharges UMLS:C4021215 The epileptiform morphology of the discharges is not invariable, as PLEDS are often closer to slow waves than to sharp waves in morphology. PLEDs are often are caused by acute destructive focal lesions. PLEDs are often a transitory phenomenon, disappearing in a matter of weeks, even if the causal lesion persists, and often transforming into a less specific but more persistent focal slow appearance. peter 2010-07-11T08:25:02Z human_phenotype owl:Class HP:0011186 biolink:NamedThing Focal epileptiform discharges with limited propagation to contralateral hemisphere Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023488 hecht 2011-11-19T10:40:22Z human_phenotype owl:Class CL:0000593 biolink:NamedThing androgen secreting cell A steroid hormone secreting cell that secretes androgen. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class PR:P22646 biolink:NamedThing T-cell surface glycoprotein CD3 epsilon chain (mouse) A CD3 epsilon that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl T-cell surface antigen T3/Leu-4 epsilon chain (mouse)|CD3e (mouse)|mCD3E|Cd3e UniProtKB:P22646 Category=organism-gene. protein owl:Class HP:0032937 biolink:NamedThing Recurrent, involuntary and intrusive distressing memories After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0009005 biolink:NamedThing Weakness of the intrinsic hand muscles tmpxe7fu0cj_hp_relaxed.owl Intrinsic hand muscle weakness UMLS:C1834536 owl:Class HP:0031592 biolink:NamedThing Situs inversus with levocardia Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia. tmpxe7fu0cj_hp_relaxed.owl 2017-10-15 13:19:50+00:00 peter owl:Class HP:0030206 biolink:NamedThing EMG: incremental response of compound muscle action potential to repetitive nerve stimulation A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022579 This feature may be observed with Lambert-Eaton Myasthenic Ssyndrome. owl:Class HP:0033092 biolink:NamedThing Increased urine succinate level An increase in the level of succinate in the urine. tmpxe7fu0cj_hp_relaxed.owl Succinate is a Krebs cycle metabolite that is able to modulate inflammatory responses. peter owl:Class HP:0000832 biolink:NamedThing Primary hypothyroidism A type of hypothyroidism that results from a defect in the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:111566002|UMLS:C0700502 human_phenotype owl:Class GO:0098803 biolink:NamedThing respiratory chain complex Any protein complex that is part of a respiratory chain. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0002465 biolink:NamedThing Poor speech tmpxe7fu0cj_hp_relaxed.owl Poor speech|Problems speaking|Difficulty speaking UMLS:C4280574|UMLS:C1848207 owl:Class GO:0034101 biolink:NamedThing erythrocyte homeostasis Any process of regulating the production and elimination of erythrocytes within an organism. tmpxe7fu0cj_hp_relaxed.owl red blood cell homeostasis|RBC homeostasis biological_process owl:Class HP:0007421 biolink:NamedThing Telangiectases of the cheeks Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. tmpxe7fu0cj_hp_relaxed.owl Telangiectasia on the cheeks UMLS:C3554587 human_phenotype owl:Class GO:1904677 biolink:NamedThing positive regulation of somatic stem cell division Any process that activates or increases the frequency, rate or extent of somatic stem cell division. tmpxe7fu0cj_hp_relaxed.owl upregulation of somatic stem cell division|up regulation of somatic stem cell renewal|up regulation of somatic stem cell division|activation of somatic stem cell division|up-regulation of somatic stem cell division|positive regulation of somatic stem cell renewal|up-regulation of somatic stem cell renewal|activation of somatic stem cell renewal|upregulation of somatic stem cell renewal rph 2015-09-14T08:47:34Z biological_process owl:Class HP:0012562 biolink:NamedThing Premature epimetaphyseal fusion in hand Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022844 peter 2014-01-04T02:02:35Z human_phenotype owl:Class HP:0020175 biolink:NamedThing Reduced cholinesterase level A decreased amount of cholinesterase in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Serum cholinesterase (butyrylcholinesterase (BChE)) is an enzyme that hydrolyzes acetylcholine. BChE is synthetized in the liver and has conventionally been used as a liver function test. robinp 2019-07-06 22:04:04+00:00 owl:Class HP:0004966 biolink:NamedThing Medial calcification of large arteries Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025265 GitHub issue: https://github.com/obophenotype/human-phenotype-ontology/issues/6877 owl:Class HP:0033300 biolink:NamedThing Increased circulating complement factor H related protein 1 concentration Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 21:57:41+00:00 peter owl:Class HP:0002062 biolink:NamedThing Morphological abnormality of the pyramidal tract Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. tmpxe7fu0cj_hp_relaxed.owl Pyramidal tract disease|Abnormality of the pyramidal tracts UMLS:C4020859|UMLS:C4021761 The pyramidal tracts comprise both the corticospinal and corticobulbar tracts. HP:0012445 human_phenotype owl:Class HP:0002875 biolink:NamedThing Exertional dyspnea Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. tmpxe7fu0cj_hp_relaxed.owl Exertional breathlessness|Exertional dyspnoea|Shortness of breathing upon physical activity SNOMEDCT_US:60845006|UMLS:C0231807 owl:Class HP:0008285 biolink:NamedThing Transient hypophosphatemia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024709 human_phenotype owl:Class HP:0030097 biolink:NamedThing Absent muscle dystrophin expression Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022647 owl:Class HP:0025207 biolink:NamedThing Triggered by dehydration Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water. tmpxe7fu0cj_hp_relaxed.owl Dehydration triggered symptoms|Triggered by dehydration 2016-12-10 13:45:29+00:00 HPO:probinson owl:Class UBERON:0008870 biolink:NamedThing pulmonary alveolar parenchyma The distinguishing cell types of the lung alveolar tissue, including pulmonary epithelial cells (pneumocytes), alveolar capillary endothelial cells, interstitial cells (fibroblasts) and alveolar macrophages. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37942 uberon owl:Class HP:0030508 biolink:NamedThing Retinal cavernous hemangioma tmpxe7fu0cj_hp_relaxed.owl Retinal cavernous haemangioma SNOMEDCT_US:312937006|UMLS:C0730304 owl:Class HP:0009755 biolink:NamedThing Ankyloblepharon Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. tmpxe7fu0cj_hp_relaxed.owl Adhesion of eyelids|Eyelids stuck together|Ankyloblepharon filiforme adnatum|Eyelid synechiae MSH:C536373|SNOMEDCT_US:193953008|UMLS:C0339182|UMLS:C1302999|SNOMEDCT_US:400952003 A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that the term is distinct from cryptophthalmos. peter 2009-01-31T08:52:59Z human_phenotype owl:Class HP:0011375 biolink:NamedThing Cochlear aplasia Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. tmpxe7fu0cj_hp_relaxed.owl Absent cochlea UMLS:C4023390 peter 2012-03-07T08:31:27Z human_phenotype owl:Class HP:0011527 biolink:NamedThing Lentiglobus Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging. tmpxe7fu0cj_hp_relaxed.owl Bulging of eye lens UMLS:C4280322|SNOMEDCT_US:419281007|UMLS:C1622439 peter 2012-04-06T09:17:01Z human_phenotype owl:Class HP:0032997 biolink:NamedThing Decreased cystatin C level A decreased concentration of cystatin C in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0007646 biolink:NamedThing endomeninx The innermost layer of the mesenchymal capsule that surrounds the developing brain, primarily of neural crest origin. The endomeninx forms the leptomeninx. tmpxe7fu0cj_hp_relaxed.owl future leptomeninx|future leptomeninges uberon owl:Class HP:0100128 biolink:NamedThing Ivory epiphysis of the proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density of end part of the innermost bone of the 2nd toe UMLS:C4022293 doelkens 2010-06-24T10:06:29Z human_phenotype owl:Class HP:0009680 biolink:NamedThing Irregular epiphysis of the distal phalanx of the thumb Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of thumb outermost bone UMLS:C4024239 doelkens 2009-01-30T09:18:09Z human_phenotype owl:Class HP:0007516 biolink:NamedThing Redundant skin on fingers Loose and sagging skin of the fingers. tmpxe7fu0cj_hp_relaxed.owl Extra skin on fingers UMLS:C4024856 human_phenotype owl:Class HP:0011315 biolink:NamedThing Unicoronal synostosis Synostosis affecting only one of the coronal sutures. tmpxe7fu0cj_hp_relaxed.owl Unilateral coronal craniosynostosis|Unilateral coronal suture synostosis|Unilateral coronal suture craniosynostosis UMLS:C4023418|UMLS:C4020756 peter 2012-02-25T01:08:28Z human_phenotype owl:Class HP:0001233 biolink:NamedThing 2-3 finger syndactyly Syndactyly with fusion of fingers two and three. tmpxe7fu0cj_hp_relaxed.owl Webbed 2nd-3rd fingers|Syndactyly 2nd-3rd fingers|Syndactyly, 2-3 finger UMLS:C0432055|SNOMEDCT_US:205139009 HP:0006122|HP:0006039 human_phenotype owl:Class HP:0008625 biolink:NamedThing Severe sensorineural hearing impairment A severe form of sensorineural hearing impairment. tmpxe7fu0cj_hp_relaxed.owl Severe sensorineural deafness|Severe sensorineural hearing loss UMLS:C4021533 HP:0008534|HP:0008574 human_phenotype owl:Class HP:0011709 biolink:NamedThing Atrioventricular dissociation Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance. tmpxe7fu0cj_hp_relaxed.owl MSH:D006327|UMLS:C0004331|SNOMEDCT_US:50799005 Atrioventricular dissociation can develop in response to severe sinus bradycardia with AV junctional rhythm or with an enhanced lower (junctional or ventricular) pacemaker that competes with the normal sinus rhythm and exceeds it. peter 2012-04-11T07:46:37Z human_phenotype owl:Class GO:0030593 biolink:NamedThing neutrophil chemotaxis The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0030003 biolink:NamedThing Paralytic lagophthalmos A type of lagophthalmos that occurs in association with facial nerve palsy. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:59890007|UMLS:C0155197 Patients with facial nerve palsy have a characteristic facial asymmetry and drooping of the angle of mouth. The temporal and zygomatic branches of facial nerve supply the forehead and eyelid muscles. Their involvement in a disease leads to paralysis of orbicularis oculi muscle resulting in lagophthalmos and ectropion. owl:Class HP:0100911 biolink:NamedThing Sclerosis of the proximal phalanx of the 5th finger tmpxe7fu0cj_hp_relaxed.owl Increased bone density in innermost pinkie finger bone|Increased bone density in innermost pinky finger bone|Increased bone density in innermost little finger bone UMLS:C4021931 human_phenotype owl:Class HP:0000912 biolink:NamedThing Sprengel anomaly A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). tmpxe7fu0cj_hp_relaxed.owl High scapula|High shoulder blade|Sprengel deformity|Congenital, upward displacement of the scapula UMLS:C0152438|SNOMEDCT_US:79120002|MSH:C535802|MEDDRA:10010455 Sprengel deformity is associated with malposition and dysplasia of the scapula and also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible. HP:0006621 human_phenotype owl:Class HP:0033230 biolink:NamedThing Biceps areflexia Inability to elicit biceps tendon reflex. tmpxe7fu0cj_hp_relaxed.owl Areflexia of biceps 2020-10-30 11:18:00+00:00 peter owl:Class HP:0006347 biolink:NamedThing Microdontia of primary teeth Decreased size of the primary teeth. tmpxe7fu0cj_hp_relaxed.owl Decreased width of primary tooth|Decreased width of baby teeth|Decreased size of primary tooth|Microdontia of deciduous teeth|Small deciduous teeth|Decreased width of milk teeth|Decreased width of deciduous teeth UMLS:C1856203|UMLS:C1855694 human_phenotype owl:Class HP:0031834 biolink:NamedThing Aortopulmonary collateral arteries Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus. tmpxe7fu0cj_hp_relaxed.owl 2018-05-04 03:10:02+00:00 peter owl:Class HP:0100653 biolink:NamedThing Optic neuritis Inflammation of the optic nerve. tmpxe7fu0cj_hp_relaxed.owl MSH:D009902|UMLS:C0029134|SNOMEDCT_US:66760008 Optic neuritis can cause loss of vision because of swelling and destruction of the myelin sheath covering the optic nerve and/or direct axonal damage. doelkens 2010-12-30T09:56:38Z human_phenotype owl:Class HP:0100849 biolink:NamedThing Neoplasm of the scrotum A tumor (abnormal growth of tissue) of the scrotum. tmpxe7fu0cj_hp_relaxed.owl Neoplasia of the scrotum|Scrotum tumour|Scrotum tumor UMLS:C0341790|NCIT:C3262|SNOMEDCT_US:126905005 doelkens 2011-06-17T01:37:49Z human_phenotype owl:Class GO:0010771 biolink:NamedThing negative regulation of cell morphogenesis involved in differentiation Any process that decreases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class PATO:0000323 biolink:NamedThing white An achromatic color of maximum brightness; the color of objects that reflect nearly all light of all visible wavelengths. tmpxe7fu0cj_hp_relaxed.owl whitish quality owl:Class UBERON:0003928 biolink:NamedThing digestive system duct A duct that is part of a digestive system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl gastrointestinal system duct|duct of gastrointestinal system|duct of digestive system ZFA:0005162|TAO:0005162 uberon owl:Class HP:0033447 biolink:NamedThing Elevated circulating isovalerylcarnitine concentration Increased concentration of O-isovalerylcarnitine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating O-isovalerylcarnitine concentration 2021-01-09 19:03:03+00:00 peter owl:Class HP:0000242 biolink:NamedThing Parietal bossing Parietal bossing is a marked prominence in the parietal region. tmpxe7fu0cj_hp_relaxed.owl Biparietal bossing|Bossing of parietal bone UMLS:C1857126 HP:0004641 human_phenotype owl:Class HP:0008053 biolink:NamedThing Aplasia/Hypoplasia of the iris Absence or underdevelopment of the iris. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped iris|Absent/small iris UMLS:C4024748 peter 2008-04-02T01:50:00Z human_phenotype owl:Class HP:0000651 biolink:NamedThing Diplopia Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. tmpxe7fu0cj_hp_relaxed.owl Double vision UMLS:C0012569|MSH:D004172|SNOMEDCT_US:24982008 human_phenotype owl:Class HP:0011514 biolink:NamedThing Abnormality of binocular vision An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023320 peter 2012-04-06T06:00:34Z human_phenotype owl:Class HP:0033050 biolink:NamedThing Pharyngalgia An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat. tmpxe7fu0cj_hp_relaxed.owl Throat discomfort|Throat pain|Pharyngodynia|Sore throat peter owl:Class HP:0033281 biolink:NamedThing Circulating nucleated red blood cells The presence of nucleated red blood cells in the peripheral blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 19:50:48+00:00 Nucleated red blood cells (NRBCs) are early erythrocyte precursors not present in the peripheral blood of normal adults. Fenestrations in the bone marrow provide a physical filter to the release of the large NRBCs into the circulation, and the rare NRBC that escapes is rapidly cleared from peripheral blood by the spleen. The presence of circulating NRBCs in adults thus reflects extreme increases in erythropoietic activity or failure of the blood filtration mechanisms. peter owl:Class HP:0009595 biolink:NamedThing Occasional neurofibromas Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3810474 peter 2009-01-28T11:12:19Z human_phenotype owl:Class HP:0012678 biolink:NamedThing Iron accumulation in substantia nigra An anomalous build up of iron (Fe) in the substantia nigra. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022785 hecht 2014-03-13T07:29:54Z human_phenotype owl:Class HP:0005084 biolink:NamedThing Anterior radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction. tmpxe7fu0cj_hp_relaxed.owl Anterior dislocation of radial head UMLS:C2674451 human_phenotype owl:Class HP:0025582 biolink:NamedThing Submacular hemorrhage Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. tmpxe7fu0cj_hp_relaxed.owl Sub-macular hemorrhage|Submacular haemorrhage|Sub-macular haemorrhage 2018-01-13 19:25:19+00:00 HPO:probinson owl:Class GO:0006879 biolink:NamedThing cellular iron ion homeostasis Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell. tmpxe7fu0cj_hp_relaxed.owl iron homeostasis biological_process owl:Class GO:0097722 biolink:NamedThing sperm motility Any process involved in the controlled movement of a sperm cell. tmpxe7fu0cj_hp_relaxed.owl sperm movement pr 2016-09-01T12:00:45Z biological_process owl:Class CHEBI:33636 biolink:NamedThing bicyclic compound A molecule that features two fused rings. tmpxe7fu0cj_hp_relaxed.owl bicyclic compounds chebi_ontology owl:Class PATO:0000274 biolink:NamedThing fertility A reproductive quality inhering in a bearer by virtue of the bearer's initiating, sustaining, or supporting reproduction. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0006582 biolink:NamedThing Reye syndrome-like episodes Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850413 This feature has been observed in individuals withe mitochondrial DNA depletion syndrome-6 (MTDPS6), also known as Navajo neurohepatopathy [MIM:256810]. human_phenotype owl:Class HP:0040282 biolink:NamedThing Frequent Present in 30% to 79% of the cases. tmpxe7fu0cj_hp_relaxed.owl Frequent (79-30%) ORPHA:453312 ORCID:0000-0002-5316-1399 owl:Class HP:0007880 biolink:NamedThing Marginal corneal dystrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024779 human_phenotype owl:Class CL:0000145 biolink:NamedThing professional antigen presenting cell A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response. tmpxe7fu0cj_hp_relaxed.owl APC Note change of name; nearly all somatic cells can present antigens to T cells via MHC Class I complexes leading to effector responses, but professional antigen presenting cells constitutively express MHC Class II as well as costimulatory molecules, and thus can initiate immune responses via T cells. cell owl:Class PATO:0000763 biolink:NamedThing paralysed A behavioral quality inhering in a bearer by virtue of the bearer's being affected by loss of the ability to move a body part. tmpxe7fu0cj_hp_relaxed.owl palsy quality owl:Class HP:0100341 biolink:NamedThing Tibial deviation of the 4th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022139 doelkens 2010-11-11T03:41:54Z human_phenotype owl:Class HP:0009190 biolink:NamedThing Irregular epiphyses of the metacarpals Irregular radiographic opacity of the epiphyses of the metacarpals. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the long bone of hand UMLS:C4024546 doelkens 2008-12-30T02:03:34Z human_phenotype owl:Class HP:0410393 biolink:NamedThing Increased proportion of central memory CD4-positive, alpha-beta T cells An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl Increased proportion of CD4+ central memory cells|Elevated proportion central memory CD4-positive, alpha-beta T cells|Increased proportion of central memory CD4+, alpha-beta T cell|Elevated proportion of CD4+ central memory cells These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype. HP:0025621 owl:Class HP:0025400 biolink:NamedThing Nodular-random pattern on pulmonary HRCT A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern. tmpxe7fu0cj_hp_relaxed.owl 2017-04-22 13:13:45+00:00 Miliary tuberculosis and miliary metastasis are two diseases entities that can be characterized by a ranom nodular pattern on pulmonary HRCT. HPO:probinson owl:Class CHEBI:32505 biolink:NamedThing phenylalaninium An alpha-amino-acid cation that is the conjugate acid of phenylalanine, arising from protonation of the amino group. tmpxe7fu0cj_hp_relaxed.owl phenylalanine cation|1-carboxy-2-phenylethanaminium|phenylalaninium +1 C9H12NO2 InChI=1S/C9H11NO2/c10-8(9(11)12)6-7-4-2-1-3-5-7/h1-5,8H,6,10H2,(H,11,12)/p+1 COLNVLDHVKWLRT-UHFFFAOYSA-O 166.19710 166.08626 [NH3+]C(Cc1ccccc1)C(O)=O chebi_ontology owl:Class PATO:0001810 biolink:NamedThing wrinkled A grooved texture quality inhering in a bearer by virtue of the bearer's being marked by one or more creases in a normally smooth surface. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PATO:0002255 biolink:NamedThing grooved Texture quality inhering in a bearer by virtue of the bearer's being marked with one or more channels. tmpxe7fu0cj_hp_relaxed.owl creased|channeled 2010-09-01T10:27:48Z quality owl:Class GO:0060343 biolink:NamedThing trabecula formation The process of creating a trabecula in an organ. A trabecula is a small, often microscopic, tissue element in the form of a small beam, strut or rod, which generally has a mechanical function. Trabecula are usually but not necessarily, composed of dense collagenous tissue. tmpxe7fu0cj_hp_relaxed.owl trabecula biogenesis|trabeculation biological_process owl:Class GO:0061564 biolink:NamedThing axon development The progression of an axon over time. Covers axonogenesis (de novo generation of an axon) and axon regeneration (regrowth), as well as processes pertaining to the progression of the axon over time (fasciculation and defasciculation). tmpxe7fu0cj_hp_relaxed.owl dph 2013-07-18T14:43:01Z biological_process owl:Class HP:0033474 biolink:NamedThing 10-minute APGAR score of 6 tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:45:57+00:00 peter owl:Class HP:0003361 biolink:NamedThing Tryptophanuria An increased concentration of tryptophan in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine tryptophan levels UMLS:C0268472|SNOMEDCT_US:18789002 Normal urinary tryptophan total (free and combined form) excretion is around 40 mg per 24 hours. owl:Class HP:0009673 biolink:NamedThing Stippling of the epiphysis of the proximal phalanx of the thumb The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of thumb innermost long bone UMLS:C4024244 doelkens 2009-01-30T09:17:13Z human_phenotype owl:Class PR:000040662 biolink:NamedThing cathepsin-like protease A protein that is a translation product of some metazoan gene that encodes a signal peptide followed by a single Cathepsin propeptide inhibitor domain (Pfam:PF08246) followed by a single Papain family cysteine protease (Pfam:PF00112) domain at the C terminus. tmpxe7fu0cj_hp_relaxed.owl fam:CTS|cathepsin Category=family. protein owl:Class HP:0002715 biolink:NamedThing Abnormality of the immune system An abnormality of the immune system. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the immune system|Immunological abnormality UMLS:C4021753 The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages. HP:0003346|HP:0003257|HP:0010986 owl:Class PATO:0000761 biolink:NamedThing decreased behavioural activity A behavioral quality of a process inhering in a bearer by virtue of the bearer's exhibiting reduced activity. tmpxe7fu0cj_hp_relaxed.owl hypoactive quality owl:Class UBERON:0007312 biolink:NamedThing pudendal artery Either the internal or external pudendal arteries. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37111|MA:0002028 uberon owl:Class HP:0003980 biolink:NamedThing Pseudarthrosis of the radius tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025466 human_phenotype owl:Class HP:0034130 biolink:NamedThing Anti-GT1a IgG antibody positivity The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:54:57+00:00 peter owl:Class HP:0033325 biolink:NamedThing Elevated circulating sebacic acid concentration Increased concentration of sebacic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 14:11:41+00:00 peter owl:Class HP:0020176 biolink:NamedThing Cholesterol crystalluria The presence of cholesterol crystals in the urine. tmpxe7fu0cj_hp_relaxed.owl Cholesterol crystals are transparent plates with well-defined edges and corners, which polarize light inconstantly. They are not found in normal subjects, and characteristically occur in patients with lipiduria secondary to nephrotic syndrome. robinp 2019-07-06 22:11:11+00:00 owl:Class HP:0031609 biolink:NamedThing Geographic atrophy Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium. tmpxe7fu0cj_hp_relaxed.owl 2017-12-10 14:57:12+00:00 peter owl:Class HP:0010646 biolink:NamedThing Cervical spine instability An abnormal lack of stability of the cervical spine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0410652|SNOMEDCT_US:202821008 The cervical spine is made up of two anatomically and functionally distinct segments: the upper cervical spine (C1and C2), which possesses the most rotational mobility with some degrees of frontal and sagittal plane mobility, and the lower cervical spine, which allows for two types of movements - flexion-extension and inclination-rotation. Cervical instability mainly involves the upper cervical spine, particularly between C1 and C2. Craniocervical ligaments are the main determinants of cervical spine stability. doelkens 2010-02-23T11:15:32Z owl:Class HP:0006230 biolink:NamedThing Unilateral oligodactyly tmpxe7fu0cj_hp_relaxed.owl UMLS:C3805861 human_phenotype owl:Class HP:0007992 biolink:NamedThing Lattice retinal degeneration tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:3577000|UMLS:C0154856 human_phenotype owl:Class HGNC:4458 biolink:NamedThing GPI (human) A protein coding gene GPI in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class UBERON:0007118 biolink:NamedThing umbilicus The pit in the center of the abdominal wall marking the point where the umbilical cord entered in the fetus. tmpxe7fu0cj_hp_relaxed.owl navel|umbilical region|umbilical part of abdomen galen:Umbilicus|MESH:A01.047.849|UMLS:C0041638|FMA:61584|GAID:29|NCIT:C77533 uberon owl:Class omphalo|umbilical HP:0001611 biolink:NamedThing Nasal speech A type of speech characterized by the presence of an abnormally increased nasal airflow during speech. tmpxe7fu0cj_hp_relaxed.owl Nasal voice|Nasal speech|Hypernasal voice|Hypernasal speech UMLS:C0454555|SNOMEDCT_US:229645001|SNOMEDCT_US:289190003|UMLS:C0566620 May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy. HP:0001614 owl:Class HP:0032788 biolink:NamedThing Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0008670 biolink:NamedThing Partial vaginal septum tmpxe7fu0cj_hp_relaxed.owl UMLS:C0750088 human_phenotype owl:Class HP:0100176 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022245 doelkens 2010-06-24T04:53:36Z human_phenotype owl:Class HP:0012581 biolink:NamedThing Simple renal cyst An isolated cyst of the kidney. tmpxe7fu0cj_hp_relaxed.owl single cortical cyst|Solitary renal cyst|Simple kidney cyst UMLS:C4022836|UMLS:C0268800|SNOMEDCT_US:77945009 peter 2014-01-16T03:06:37Z owl:Class HP:0011633 biolink:NamedThing Complete left sided absence of pericardium A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart. tmpxe7fu0cj_hp_relaxed.owl Absent lining around of left side of heart UMLS:C4023256 A congenital anomaly and not the result of a pericardectomy. peter 2012-04-08T10:11:03Z human_phenotype owl:Class MAXO:0000137 biolink:NamedThing positron emission tomography procedure A technique for measuring the gamma radiation produced by collisions of electrons and positrons (anti-electrons) within living tissue. In positron emission tomography (PET), a subject is given a dose of a positron-emitting radionuclide attached to a metabolically active substance (for example, 2-fluoro-2-deoxy-D-glucose (FDG), which is similar to a naturally occurring sugar, glucose, with the addition of a radioactive fluorine atom). When living tissue containing the positron emitter is bombarded by electrons, gamma radiation produced by collisions of electrons and positrons is detected by a scanner, revealing in fine detail the tissue location of the metabolically-active substance administered. tmpxe7fu0cj_hp_relaxed.owl PET scan 2019-01-20 19:19:15+00:00 NCIT:C17007 owl:Class GO:0043576 biolink:NamedThing regulation of respiratory gaseous exchange Any process that modulates the frequency, rate or extent of the process of gaseous exchange between an organism and its environment. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0005850 biolink:NamedThing Congenital talipes calcaneovalgus tmpxe7fu0cj_hp_relaxed.owl MSH:D005413|SNOMEDCT_US:205083002|UMLS:C0152237|SNOMEDCT_US:31668003 human_phenotype owl:Class CL:0002454 biolink:NamedThing Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell is a conventional dendritic cell that is CD11b-positive, CD4-negative, CD8_alpha-negative and is CD205-positive. tmpxe7fu0cj_hp_relaxed.owl spleen double-negative dendritic cell|DC.8-4-11b+ tmeehan 2010-11-22T01:10:28Z cell owl:Class CL:0002465 biolink:NamedThing CD11b-positive dendritic cell A conventional dendritic cell that expresses CD11b (ITGAM). tmpxe7fu0cj_hp_relaxed.owl tmeehan 2010-11-23T01:50:05Z cell owl:Class HP:0025264 biolink:NamedThing Stiff ankle A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity. tmpxe7fu0cj_hp_relaxed.owl Stiff ankle|Ankle stiffness 2016-12-18 01:17:12+00:00 HPO:probinson owl:Class HP:0003332 biolink:NamedThing Absent primary metaphyseal spongiosa tmpxe7fu0cj_hp_relaxed.owl UMLS:C3277126 human_phenotype owl:Class HP:0005089 biolink:NamedThing Abnormal metaphyseal trabeculation An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857139 HP:0006360 human_phenotype owl:Class HP:0031040 biolink:NamedThing Late spermatogenesis maturation arrest A type of maturation arrest in which spermatids are detected without spermatozoa. tmpxe7fu0cj_hp_relaxed.owl Maturation arrest of spermatogenesis at spermatid stage 2017-05-27 11:51:00+00:00 peter owl:Class HP:0031038 biolink:NamedThing Spermatogenesis maturation arrest Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. tmpxe7fu0cj_hp_relaxed.owl Meiotic maturation arrest of spermatogenesis 2017-05-27 11:49:05+00:00 Maturation arrest (MA) of spermatogenesis is diagnosed on histology as interruption of spermatogenesis before the final stage without impairment of Sertoli or Leydig cells. It is considered a condition of irreversible or absolute infertility. peter owl:Class CHEBI:23677 biolink:NamedThing diazole An azole that is either one of a pair of heterocyclic organic compounds comprising three carbon atoms and two nitrogen atoms arranged in a ring. tmpxe7fu0cj_hp_relaxed.owl diazoles chebi_ontology owl:Class HP:0033516 biolink:NamedThing Benzodiazepine addiction Addiction to a benzodiazepine. tmpxe7fu0cj_hp_relaxed.owl Benzodiazepine dependence 2021-01-13 12:30:50+00:00 peter owl:Class HP:0031948 biolink:NamedThing Snowball lesion of corpus callosum Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome. tmpxe7fu0cj_hp_relaxed.owl 2018-07-06 12:16:20+00:00 peter owl:Class HP:0003898 biolink:NamedThing Large humeral epiphyses tmpxe7fu0cj_hp_relaxed.owl Large end part of long bone in upper arm UMLS:C4025522 human_phenotype owl:Class HP:0041043 biolink:NamedThing Neutrophil nuclear clefts An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0004470 biolink:NamedThing Atretic occipital cephalocele A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1836600 human_phenotype owl:Class HP:0033154 biolink:NamedThing Elevated circulating deoxypyridinoline concentration An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-09-20 11:19:47+00:00 Pyridinoline cross-links contribute to the structural rigidity and integrity of collagen fibrils in bone. When bone resorption occurs, osteoclastic degradation of bone matrix releases pyridinoline and deoxypyridinoline into the circulation; these compounds are then excreted in urine. Measurements of urinary elimination of these compounds may provide useful information on the change of bone resorption. peter owl:Class HP:0410207 biolink:NamedThing Positive methadone plasma/serum test Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum. tmpxe7fu0cj_hp_relaxed.owl 2018-09-11 23:47:39+00:00 Methadone is an opioid drug that is used to treat severe pain or in the treatment of individiuals with opioid dependency. owl:Class HP:0007412 biolink:NamedThing Macular hyperpigmented dermopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024885 human_phenotype owl:Class HP:0032444 biolink:NamedThing Status post organ transplantation The affected individual has received an organ transplant previous to the current medical encounter. tmpxe7fu0cj_hp_relaxed.owl s/p organ transplantation 2019-03-03 16:49:25+00:00 peter owl:Class HP:0410362 biolink:NamedThing Decreased O-mannosyl glycans on alpha-dystroglycan Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix. tmpxe7fu0cj_hp_relaxed.owl Reduced O-mannosyl glycans on alpha-dystroglycan owl:Class CHEBI:146306 biolink:NamedThing partially-defined glycan A member of the class of carbohydrates and carbohydrate derivatives that is any oligosaccharide or polysaccharide in which the identity of one or more of the individual monosaccharide units, their connectivity (position of attachment) or the stereochemistry (alpha- or beta-) of one or more of the glycosidic linkages is not known. tmpxe7fu0cj_hp_relaxed.owl partially defined glycan|partially defined glycans|partially-defined glycans chebi_ontology owl:Class HP:0002436 biolink:NamedThing Occipital meningocele A herniation of meninges through a congenital bone defect in the skull in the occipital region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1848652|SNOMEDCT_US:445468002 owl:Class GO:0001501 biolink:NamedThing skeletal system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). tmpxe7fu0cj_hp_relaxed.owl skeletal development biological_process owl:Class CHEBI:11955 biolink:NamedThing 4-amino-3-hydroxybutanoate The conjugate base of gamma-amino-beta-hydroxybutyric acid arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl 4-Amino-3-hydroxybutanoate -1 C4H8NO3 InChI=1S/C4H9NO3/c5-2-3(6)1-4(7)8/h3,6H,1-2,5H2,(H,7,8)/p-1 YQGDEPYYFWUPGO-UHFFFAOYSA-M 118.11126 118.05097 NCC(O)CC([O-])=O CAS:352-21-6|KEGG:C03678 chebi_ontology owl:Class HP:0002589 biolink:NamedThing Gastrointestinal atresia tmpxe7fu0cj_hp_relaxed.owl GI atresia UMLS:C4025697 human_phenotype owl:Class GO:0048319 biolink:NamedThing axial mesoderm morphogenesis The process in which the anatomical structures of the axial mesoderm are generated and organized. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:50967 biolink:NamedThing non-covalently-bound molecular entity Systems consisting of two or more molecular entities held together by non-covalent interactions. tmpxe7fu0cj_hp_relaxed.owl non-covalently-bound molecular entities chebi_ontology owl:Class HP:0002470 biolink:NamedThing Nonprogressive cerebellar ataxia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1845029 human_phenotype owl:Class HP:0025177 biolink:NamedThing Peribronchovascular interstitial thickening Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography. tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 19:41:52+00:00 HPO:probinson owl:Class HP:0030917 biolink:NamedThing Low APGAR score tmpxe7fu0cj_hp_relaxed.owl 2016-11-07 18:06:20+00:00 The APGAR score was developed by Dr. Virginia Apgar to quickly assess the status of newborn children. It is determined based on scoing five criteria (Appearance, Pulse, Grimace, Activity, Respiration) on a scale of zero to two each and summing the five values. A score of 7 and above is considered normal, 4 to 6 low, and 3 or less critically low. The 1-minute score is used to assess how well the neonate tolerated the birthing process, and the 5-minute score is used to assess how well the neonate is adapting to the postnatal environment. robinp owl:Class HP:0007573 biolink:NamedThing Late onset atopic dermatitis A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis. tmpxe7fu0cj_hp_relaxed.owl Late onset baby eczema UMLS:C4024843|UMLS:C4280439 human_phenotype owl:Class HP:0001047 biolink:NamedThing Atopic dermatitis Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. tmpxe7fu0cj_hp_relaxed.owl Atopic dermatitis, chronic|Dermatitis, Atopic|Baby eczema SNOMEDCT_US:24079001|UMLS:C0011615|MSH:D003876|SNOMEDCT_US:200775004|UMLS:C4280605 In infants, atopic dermatitis is known as infantile eczema. HP:0007533|HP:0007564 human_phenotype owl:Class HP:0033189 biolink:NamedThing Radiculomegaly Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length. tmpxe7fu0cj_hp_relaxed.owl Root gigantism|Rhizomegaly|Long dental root 2020-10-04 12:04:47+00:00 peter owl:Class CL:0002573 biolink:NamedThing Schwann cell A glial cell that ensheathes axons of neuron in the peripheral nervous system and are necessary for their maintainance and function. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-0898|BTO:0001220 tmeehan 2011-03-02T01:19:27Z cell owl:Class GO:0021990 biolink:NamedThing neural plate formation The formation of the flat, thickened layer of ectodermal cells known as the neural plate. The underlying dorsal mesoderm signals the ectodermal cells above it to elongate into columnar neural plate cells. The neural plate subsequently develops into the neural tube, which gives rise to the central nervous system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CL:0002607 biolink:NamedThing migratory enteric neural crest cell A neural crest cell that gives rise to cells of the enteric nervous system. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-03-06T07:24:35Z cell owl:Class HP:0000014 biolink:NamedThing Abnormality of the bladder An abnormality of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0149632 human_phenotype owl:Class HP:0010012 biolink:NamedThing Abnormality of the 4th metacarpal Any abnormality of the fourth metacarpal bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the 4th long bone of hand UMLS:C4024111 doelkens 2009-05-27T03:35:21Z human_phenotype owl:Class HP:0005537 biolink:NamedThing Decreased mean platelet volume Average platelet volume below the lower limit of the normal reference interval. tmpxe7fu0cj_hp_relaxed.owl Small platelets|Small platelets size|Small platelet size UMLS:C1096368|UMLS:C1833182 Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL). HP:0001938 human_phenotype owl:Class HP:0009456 biolink:NamedThing Triangular shaped proximal phalanx of the 3rd finger Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped innermost bone of middle finger UMLS:C4024349 doelkens 2009-01-14T04:33:41Z human_phenotype owl:Class HP:0008269 biolink:NamedThing Increased red cell hemolysis by shear stress tmpxe7fu0cj_hp_relaxed.owl UMLS:C3806125 human_phenotype owl:Class GO:0006577 biolink:NamedThing amino-acid betaine metabolic process The chemical reactions and pathways involving any betaine, the N-trimethyl derivative of an amino acid. tmpxe7fu0cj_hp_relaxed.owl betaine metabolism|betaine metabolic process biological_process owl:Class HP:0025608 biolink:NamedThing Cicatricial ectropion An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 22:49:08+00:00 Cicatricial ectropion may occur owing to burns, lacerations, or infection of the skin of the eyelid. HPO:probinson owl:Class UBERON:0005013 biolink:NamedThing mucosa of male urethra A mucosa that is part of a male urethra [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl male urethra organ mucosa|mucosa of organ of male urethra|male urethra mucosa|mucous membrane of male urethra|male urethra mucosa of organ|male urethra mucous membrane|organ mucosa of male urethra FMA:239937 uberon owl:Class HP:0031398 biolink:NamedThing Increased proportion of naive T cells An abnormally increased proportion of naive T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Elevated proportion of naive T cells|Increased proportion of naive thymus-derived, alpha-beta T cells 2017-09-03 12:53:42+00:00 peter owl:Class HP:0033240 biolink:NamedThing Elevated RV/TLC ratio An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation. tmpxe7fu0cj_hp_relaxed.owl Overinflation on pulmonary function test|Hyperinflation on pulmonary function test 2020-11-24 10:58:46+00:00 peter owl:Class HP:0025302 biolink:NamedThing Diurnal Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time. tmpxe7fu0cj_hp_relaxed.owl 2016-12-20 12:31:12+00:00 HPO:probinson owl:Class HP:0033191 biolink:NamedThing Increased circulating selenium concentration An increased concentration of selenium in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-10-04 12:16:23+00:00 peter owl:Class HP:0031903 biolink:NamedThing Abnormal circulating selenium concentration Any deviation from the normal circulating concentration of selenium. tmpxe7fu0cj_hp_relaxed.owl Abnormal serum selenium concentration 2018-05-19 15:19:13+00:00 Selenium (Se) is an essential micronutrient that exists in the form of selenocysteine (Sec), the 21st amino acid, upon its incorporation into selenoproteins via the tRNA[Sec] encoded by Trsp. Dietary intake of the micronutrient selenium is essential for normal immune functions. Selenium is cotranslationally incorporated as the 21st amino acid, selenocysteine, into selenoproteins that function to modulate pathways involved in inflammation. peter owl:Class GO:1903831 biolink:NamedThing signal transduction involved in cellular response to ammonium ion Any signal transduction that is involved in cellular response to ammonium ion. tmpxe7fu0cj_hp_relaxed.owl signalling pathway involved in cellular response to ammonium ion|signalling cascade involved in cellular response to ammonium ion|signaling pathway involved in cellular response to ammonium ion|signaling cascade involved in cellular response to ammonium ion al 2015-01-21T17:52:09Z biological_process owl:Class HP:0011930 biolink:NamedThing Hyperextensible skin of chest tmpxe7fu0cj_hp_relaxed.owl Stretchable chest skin|Hyperelastic chest skin UMLS:C4021836 peter 2012-06-10T11:37:14Z human_phenotype owl:Class HP:0040097 biolink:NamedThing Neoplasm of the ceruminal gland A tumor (abnormal growth of tissue) of the ceruminal gland. tmpxe7fu0cj_hp_relaxed.owl Ceruminous adenoma|Ceruminoma|Adenoma of the ceruminous gland SNOMEDCT_US:403945001|NCIT:C3262|UMLS:C0334352|SNOMEDCT_US:52707009 HPO:skoehler owl:Class HP:0004764 biolink:NamedThing Myxomatous mitral valve degeneration Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:253395003|SNOMEDCT_US:42069006|UMLS:C0264885 human_phenotype owl:Class CHEBI:26288 biolink:NamedThing propanediol tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class CHEBI:13643 biolink:NamedThing glycol A diol in which the two hydroxy groups are on different carbon atoms, usually but not necessarily adjacent. tmpxe7fu0cj_hp_relaxed.owl glycols|Glykol chebi_ontology owl:Class HP:0009963 biolink:NamedThing Duplication of the middle phalanx of the 3rd finger Partial or complete duplication of the middle phalanx of middle finger. tmpxe7fu0cj_hp_relaxed.owl Duplication of the middle bone of the middle finger|Partial/complete duplication of the middle phalanx of the 3rd finger UMLS:C4021362 doelkens 2009-05-26T12:46:36Z HP:0004157|HP:0004174 human_phenotype owl:Class HP:0032653 biolink:NamedThing Elevated lactate:pyruvate ratio An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl The lactate:pyruvate (L:P) ratio reflects the equilibrium between the product and substrate of the reaction catalyzed by lactase dehydrogenase and indirectly reflects the NADH:NAD+ cytoplasmic redox state. When cellular respiration or mitochondrial oxidative metabolism is impaired, such as in inborn errors of components of the mitochondrial respiratory chain, there is an increase in reducing equivalents (excess NADH and absence of NAD+) which results in an elevated L:P molar ratio. peter owl:Class HP:0034039 biolink:NamedThing Ventricular couplet Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats. tmpxe7fu0cj_hp_relaxed.owl Doublet premature ventricular contractions 2021-09-25 11:58:55+00:00 peter owl:Class PATO:0002180 biolink:NamedThing straight A shape quality inhering in a bearer by virtue of the bearer's being free of curves, bends, or angles. tmpxe7fu0cj_hp_relaxed.owl 2010-02-28T08:54:59Z quality owl:Class CL:0011022 biolink:NamedThing fibroblast of skin of back A fibroblast that is part of skin of back. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0033612 biolink:NamedThing Pure ground-glass pulmonary nodule Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 22:26:04+00:00 peter owl:Class HP:0010507 biolink:NamedThing Foot asymmetry A difference in size or shape between the left and right foot. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023799 peter 2009-09-19T09:49:04Z human_phenotype owl:Class HP:0001790 biolink:NamedThing Nonimmune hydrops fetalis A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . tmpxe7fu0cj_hp_relaxed.owl Non-immune foetal hydrops|Nonimmune hydrops|Non-immune fetal hydrops|Hydrops fetalis, nonimmune|Hydrops fetalis, non-immune SNOMEDCT_US:206538000|MSH:D015160|SNOMEDCT_US:276509008|UMLS:C0455988 human_phenotype owl:Class HP:0007766 biolink:NamedThing Optic disc hypoplasia Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic optic discs|Hypoplastic optic disks UMLS:C1298695|SNOMEDCT_US:373650004 HP:0007890|HP:0007794 human_phenotype owl:Class HP:0100446 biolink:NamedThing Curved proximal phalanx of the 3rd toe A deviation from the normal straight form of the proximal phalanx of the third toe. tmpxe7fu0cj_hp_relaxed.owl Curved innermost bone of 3rd toe UMLS:C4022081 human_phenotype owl:Class HP:0005776 biolink:NamedThing Carpal bone malsegmentation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025137 human_phenotype owl:Class HP:0033547 biolink:NamedThing Mesangial immunotactoid deposits Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. tmpxe7fu0cj_hp_relaxed.owl 2021-01-21 13:40:05+00:00 peter owl:Class HP:0033378 biolink:NamedThing Increased airway neuroepithelial bodies Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts. tmpxe7fu0cj_hp_relaxed.owl 2020-12-23 14:10:02+00:00 peter owl:Class HP:0100047 biolink:NamedThing Enlarged epiphyses of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the 2nd toe bone UMLS:C4022374 doelkens 2010-06-24T09:58:18Z human_phenotype owl:Class HP:0006650 biolink:NamedThing Thickening of the lateral border of the scapula tmpxe7fu0cj_hp_relaxed.owl Thickening of the lateral border of the shoulder blade UMLS:C1834383 human_phenotype owl:Class HP:0034007 biolink:NamedThing Posterior atrophy of corpus callosum The presence of atrophy (wasting) of the posterior portion of the corpus callosum. tmpxe7fu0cj_hp_relaxed.owl 2021-08-22 17:54:02+00:00 peter owl:Class HP:0100810 biolink:NamedThing Pointed helix tmpxe7fu0cj_hp_relaxed.owl Elfin ear|Vulcan ear|Spock ear|Pointed ear|Spock's ear UMLS:C4020951 doelkens 2011-06-09T01:51:46Z human_phenotype owl:Class HP:0009757 biolink:NamedThing Intercrural pterygium A pterygium (or pterygia) in the intercrural (groin) region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3810471 peter 2009-01-31T08:58:49Z human_phenotype owl:Class HP:0025078 biolink:NamedThing Electrical alternans The QRS complexes of the electrocardiogram alternate in height. tmpxe7fu0cj_hp_relaxed.owl 2016-09-26 10:52:41+00:00 HPO:probinson owl:Class HP:0007397 biolink:NamedThing Axillary apocrine gland hypoplasia Developmental hypoplasia of the apocrine sweat glands in the region of the axilla. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1867003 human_phenotype owl:Class HP:0032455 biolink:NamedThing Reduced granulocyte CD18 level Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry. tmpxe7fu0cj_hp_relaxed.owl 2019-03-08 11:13:04+00:00 The beta2 integrin (CD18) expressed on leukocytes can pair with several alpha integrin subunits, and each alpha-beta pairing can bind a variety of ligands, including the counterreceptors ICAM-1, -2 and -3, fibrinogen, the complement fragment iC3b, and polysaccharides. peter owl:Class HP:0009790 biolink:NamedThing Hemisacrum A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2677632 peter 2009-02-03T05:21:37Z human_phenotype owl:Class HP:4000036 biolink:NamedThing Encysted hydrocele of the cord A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 20:07:50+00:00 robinp owl:Class MAXO:0010354 biolink:NamedThing lung radiograph procedure Use of an imaging test that uses small amounts of radiation to produce pictures of lung. tmpxe7fu0cj_hp_relaxed.owl lung radiogram procedure|lung X-ray procedure|radiography of lung|radiograph of lung 2020-04-07T20:39:14Z http://orcid.org/0000-0001-7941-2961 owl:Class HP:0100860 biolink:NamedThing Dilatation of Inferior mesenteric artery Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery . tmpxe7fu0cj_hp_relaxed.owl Inferior mesenteric artery aneurysm UMLS:C0340625|SNOMEDCT_US:195289005 Aneurysm is considered a severe form of dilatation. doelkens 2011-11-30T10:07:35Z human_phenotype owl:Class HP:0032656 biolink:NamedThing Febrile status epilepticus A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult. tmpxe7fu0cj_hp_relaxed.owl Fever-induced status epilepticus Some but not all cases of Febrile Infection-related Epilepsy Syndrome (FIRES) may meet this definition; however, in many cases of FIRES the individual will no longer be febrile at the time of the seizure onset. peter owl:Class HP:0020075 biolink:NamedThing Leucine crystalluria The presence of leuucine crystals in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-02-25 13:13:14+00:00 Leucine crystals are oily-looking spheres with concentric striations, which form pseudo-Maltese crosses under polarized light. Leucine, like tyrosine, which appears as thin needles often aggregated inbundles or rosettes, is typical of patients with hepatic failure. robinp owl:Class HP:0030793 biolink:NamedThing Jaw swelling Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280766 owl:Class HP:0100145 biolink:NamedThing Triangular epiphysis of the distal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the outermost bone of the 3rd toe UMLS:C4022276 doelkens 2010-06-24T10:23:44Z human_phenotype owl:Class HP:0034031 biolink:NamedThing Facial cyanosis Bluish discoloration of one or more regions of the face. tmpxe7fu0cj_hp_relaxed.owl Bluish face|Cyanotic face 2021-09-24 13:04:45+00:00 peter owl:Class HP:0025641 biolink:NamedThing Elevated circulating glycolate concentration An abnormally increased concentration of glycolate in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-04-26 18:31:31+00:00 Glycolate is a hydroxy monocarboxylic acid anion that is acetate in which the methyl group has been hydroxylated. HPO:probinson owl:Class GO:0098666 biolink:NamedThing G protein-coupled serotonin receptor complex A protein complex that is capable of G protein-coupled serotonin receptor activity. tmpxe7fu0cj_hp_relaxed.owl G-protein coupled serotonin receptor complex https://github.com/geneontology/go-ontology/issues/12942 dos 2016-12-21T12:28:12Z cellular_component owl:Class GO:0000041 biolink:NamedThing transition metal ion transport The directed movement of transition metal ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpxe7fu0cj_hp_relaxed.owl transition metal transport biological_process owl:Class HP:0031304 biolink:NamedThing Iliac arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery. tmpxe7fu0cj_hp_relaxed.owl 2017-08-26 21:05:02+00:00 peter owl:Class GO:0034757 biolink:NamedThing negative regulation of iron ion transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl inhibition of iron ion transport|downregulation of iron ion transport|down-regulation of iron ion transport|negative regulation of iron transport|down regulation of iron ion transport biological_process owl:Class HP:0012829 biolink:NamedThing Profound Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean. tmpxe7fu0cj_hp_relaxed.owl Profound UMLS:C0439808|SNOMEDCT_US:795002 peter 2014-06-06T07:05:46Z human_phenotype owl:Class HP:0011199 biolink:NamedThing EEG with generalized sharp slow waves EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. tmpxe7fu0cj_hp_relaxed.owl EEG with generalised sharp slow waves UMLS:C4023475 hecht 2011-11-19T11:17:38Z human_phenotype owl:Class HP:0040264 biolink:NamedThing Jaw pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw. tmpxe7fu0cj_hp_relaxed.owl Jaw pain UMLS:C0236000|SNOMEDCT_US:274667000 owl:Class HP:0033485 biolink:NamedThing Glomerular basement membrane disruption A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. tmpxe7fu0cj_hp_relaxed.owl Disruption of the glomerular basement membrane|Glomerular basement membrane rupture 2021-01-10 12:39:06+00:00 Disruption of the glomerular basement membrane (GBM) may occur in settings of inflammation (ANCA/antiGBM antibodies) or could be seen due to structural weakness of the GBM (Collagen IV disorders). This feature can be associated with extracapillary fibrin. The definition of this term intends to exclude glomeruli at the edge of the core where rupture could be iatrogenic or mechanical. peter owl:Class HP:0001958 biolink:NamedThing Nonketotic hypoglycemia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1865292 human_phenotype owl:Class HP:0025249 biolink:NamedThing Comedo A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle). tmpxe7fu0cj_hp_relaxed.owl 2016-12-17 13:56:03+00:00 HPO:probinson owl:Class HP:0004438 biolink:NamedThing Hyperostosis frontalis interna Bony overgrowth of the internal (endosteal) surface of the frontal bone. tmpxe7fu0cj_hp_relaxed.owl Hypertrophy of the internal surface of the frontal bone|Excessive growth of inner surface of the frontal bone|Thick internal surface of the frontal bone|Thick inner surface of the frontal bone|Increased ossification of the internal surface of the frontal bone|Overgrowth of the inner surface of the frontal bone|Overgrowth of the inside of the frontal bone|Enlargement of the inner surface of the frontal bone|Hyperostosis of the internal surface of the frontal bone UMLS:C0020494|UMLS:C4280525|UMLS:C4280527|SNOMEDCT_US:82054006|UMLS:C4280526|MSH:D006957|UMLS:C4280524 peter 2008-03-18T09:57:00Z human_phenotype owl:Class HP:0010854 biolink:NamedThing EEG with generalized low amplitude activity An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). tmpxe7fu0cj_hp_relaxed.owl EEG with generalised low amplitude activity|EEG: generalised low amplitude activity UMLS:C4021214 peter 2010-07-11T08:34:13Z human_phenotype owl:Class HP:0004276 biolink:NamedThing Exostoses of hand bones Abnormal formation of new bone on the surface of a bone of the hand. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025375 human_phenotype owl:Class HP:0011872 biolink:NamedThing Impaired thrombin-induced platelet aggregation Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023153 peter 2012-05-30T05:41:52Z human_phenotype owl:Class HP:0002341 biolink:NamedThing Cervical cord compression Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness. tmpxe7fu0cj_hp_relaxed.owl Cervical cord compression myelopathy UMLS:C0852866 HP:0007145 human_phenotype owl:Class HP:0002176 biolink:NamedThing Spinal cord compression External mechanical compression of the spinal cord. tmpxe7fu0cj_hp_relaxed.owl Pressure on spinal cord SNOMEDCT_US:71286001|UMLS:C0037926|MSH:D013117 Clinical abnormalities vary according to the site of the compression any may comprise pain, weakness, sensory loss, incontinence, and impotence. The compression may be caused by fractures of the spine, neoplasms, abscesses, and other factors. human_phenotype owl:Class CHEBI:21619 biolink:NamedThing N-acetylneuraminates tmpxe7fu0cj_hp_relaxed.owl N-acetylneuraminate chebi_ontology owl:Class HP:0012606 biolink:NamedThing Renal sodium wasting An abnormally increased sodium concentration in the urine in the presence of hyponatremia. tmpxe7fu0cj_hp_relaxed.owl Kidney sodium wasting|Renal Na wasting|Renal Na+ wasting UMLS:C2748576 peter 2014-01-16T06:23:16Z human_phenotype owl:Class HP:0002392 biolink:NamedThing EEG with polyspike wave complexes The presence of complexes of repetitive spikes and waves in EEG. tmpxe7fu0cj_hp_relaxed.owl EEG: spike and multispike waves, 3-4 hz UMLS:C4021757 human_phenotype owl:Class HP:0100560 biolink:NamedThing Upper limb asymmetry Difference in length or size between the right and left arm. tmpxe7fu0cj_hp_relaxed.owl Unequal size of arms UMLS:C4022024 doelkens 2010-12-21T04:04:56Z human_phenotype owl:Class HP:0005571 biolink:NamedThing Increased renal tubular phosphate reabsorption tmpxe7fu0cj_hp_relaxed.owl Increased percent tubular reabsorption of phosphorus UMLS:C1968910 human_phenotype owl:Class HP:0008345 biolink:NamedThing Hypoplasia of the iris dilator muscle Underdevelopment of the dilatator pupillae. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped iris dilator muscle|Hypoplasia of the pupil dilator muscle|Underdeveloped pupil dilator muscle UMLS:C4024696 human_phenotype owl:Class HP:0032868 biolink:NamedThing Super-refractory status epilepticus Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0020165 biolink:NamedThing Branch retinal vein occlusion Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-06 21:08:14+00:00 owl:Class HP:0100789 biolink:NamedThing Torus palatinus A bony protrusion present on the midline of the hard palate. tmpxe7fu0cj_hp_relaxed.owl Palatal tori|Palate exostoses|Prominent midpalatal ridge|Palatal torus|Maxillary torus SNOMEDCT_US:46752004|UMLS:C0447996|UMLS:C1840236|SNOMEDCT_US:697945009|SNOMEDCT_US:244683008|UMLS:C0266981 doelkens 2011-06-08T02:28:48Z human_phenotype owl:Class HP:0025565 biolink:NamedThing Anterior chamber cells grade 3+ Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. tmpxe7fu0cj_hp_relaxed.owl 2017-12-14 13:23:54+00:00 HPO:probinson owl:Class HP:0100339 biolink:NamedThing Abnormality of the os naviculare pedis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022141 doelkens 2010-10-13T04:46:42Z human_phenotype owl:Class MPATH:556 biolink:NamedThing potentially cancerous lesions Lesions which in some cases have the potential to become progressively growing malignant tumors. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class PR:000007499 biolink:NamedThing fibroblast growth factor 8 tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0025347 biolink:NamedThing Decreased circulating beta-2-microglobulin level Reduced concentration of beta-2-microglobulin in the blood. tmpxe7fu0cj_hp_relaxed.owl Reduced circulating beta-2-microglobulin level 2017-02-12 13:54:52+00:00 HPO:probinson owl:Class HP:0006593 biolink:NamedThing Anomalous rib insertion to vertebrae tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861704 human_phenotype owl:Class HP:0100274 biolink:NamedThing Gustatory lacrimation Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1862052 The aberrant innervation leading to this phenomenon may be seen for example as a hereditary trait in some patients with Branchio-oto-renal (BOR) syndrome in which case it may occur unilateral or bilateral, but it may also result from a secondary aberrant reinnervation following a peripheral facial palsy, in which case it is associated with uncontrollable ipsilateral tearing. In the past gustatory lacrimation was considered to be a very rare non-hereditary type of anomalous, cranial nerve-end organ innervation but rare occurences in patients with Branchio-oto-renal (BOR) syndrome have shown, that this feature may also appear as a hereditary condition. doelkens 2010-07-29T11:59:06Z human_phenotype owl:Class CHEBI:36735 biolink:NamedThing biladienes Compounds based on a biladiene skeleton. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0003945 biolink:NamedThing Irregular articular surfaces of the elbow joints tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025489 human_phenotype owl:Class HP:0031717 biolink:NamedThing Alternating exotropia A type of exotropia in which either eye may be used for fixation. tmpxe7fu0cj_hp_relaxed.owl Alternating strabismus 2018-01-13 13:33:37+00:00 peter owl:Class HP:0011933 biolink:NamedThing Elongated superior cerebellar peduncle Increased length of the superior cerebellar peduncle. tmpxe7fu0cj_hp_relaxed.owl Elongated superior cerebellar peduncles|Long cerebellar peduncle|Long cerebellar peduncles UMLS:C3810214|UMLS:C4021109 peter 2012-06-10T01:31:13Z human_phenotype owl:Class GO:0036072 biolink:NamedThing direct ossification The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance, that does not require the replacement of preexisting tissues. tmpxe7fu0cj_hp_relaxed.owl bf 2011-12-19T01:47:22Z biological_process owl:Class HP:0000292 biolink:NamedThing Loss of facial adipose tissue Loss of normal subcutaneous fat tissue in the face. tmpxe7fu0cj_hp_relaxed.owl Decreased amount of facial adipose tissue|Decreased volume of facial adipose tissue|Loss of facial fat|Loss of subcutaneous adipose tissue from face|Decreased amount of facial fat|Loss of facial subcutaneous adipose tissue UMLS:C1837767 human_phenotype owl:Class UBERON:0011270 biolink:NamedThing dorsal trunk The part of the trunk that is in the dorsum[cjm]. tmpxe7fu0cj_hp_relaxed.owl dorsum of trunk|dorsal part of trunk|back of trunk|trunk back EMAPA:35162|FMA:25056|MA:0000020|Wikipedia:Human_back uberon owl:Class In humans, the subdivision of trunk which is demarcated from the trunk proper by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines, the external surface of the posterior abdominal wall; together with the trunk proper, it constitutes the trunk[FMA] HP:0012256 biolink:NamedThing Absent outer dynein arms Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022989 peter 2013-04-07T09:35:55Z human_phenotype owl:Class HP:0012401 biolink:NamedThing Abnormal urine alpha-ketoglutarate concentration A deviation from normal of the concentration of 2-oxoglutaric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Abnormality of urine alpha ketoglutarate concentration|Abnormal urinary 2-oxoglutarate level UMLS:C4020902 Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. peter 2013-11-09T03:45:40Z human_phenotype owl:Class HP:0410174 biolink:NamedThing Increased circulating troponin T concentration An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. tmpxe7fu0cj_hp_relaxed.owl Increased troponin T level in blood 2018-05-18 20:21:02+00:00 owl:Class HP:0031474 biolink:NamedThing Pulmonary chondroma A benign cartilaginous tumors of the lung. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 16:50:53+00:00 peter owl:Class HP:0033909 biolink:NamedThing Arcuate vein medial hypertrophy Increased thickness of middle layer of the arcuate veins of the kidney. tmpxe7fu0cj_hp_relaxed.owl Medial hypertrophy within arcuate veins 2021-06-23 23:00:18+00:00 peter owl:Class UBERON:0013750 biolink:NamedThing metaphysis of tibia A metaphysis that is part of a tibia. tmpxe7fu0cj_hp_relaxed.owl tibial metaphysis MA:0003106|EMAPA:37772|FMA:33135 uberon owl:Class HP:0005363 biolink:NamedThing Humoral immunodeficiency A general term referring to a defect in immunity resulting from impaired antibody production. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025206 If possible it is preferable to use a precise description of the observed manifestations leading to the inference of humoral immunodeficiency. human_phenotype owl:Class HP:0100486 biolink:NamedThing Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal tmpxe7fu0cj_hp_relaxed.owl Fused innermost pinky toe bone with the 5th long bone of foot UMLS:C4022045 human_phenotype owl:Class HP:0002745 biolink:NamedThing Oral leukoplakia A thickened white patch on the oral mucosa that cannot be rubbed off. tmpxe7fu0cj_hp_relaxed.owl Oral leukokeratosis|Oral idiopathic leukoplakia|Oral white plaque|Oral leucoplakia|leukokeratosis|Oral idiopathic white patch|Oral idiopathic keratosis|Oral white patch|Oral leukoplasia MSH:D007972|UMLS:C0023532|SNOMEDCT_US:414603003|MSH:D007971|UMLS:C1704317|SNOMEDCT_US:9187004 The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart. human_phenotype owl:Class HP:0410329 biolink:NamedThing Gluten allergy Hypersensitivity in form of an adverse immune reaction against gluten. tmpxe7fu0cj_hp_relaxed.owl IgE-mediated gluten allergy|Allergy to gluten|Immunoglobulin E-mediated gluten allergy|Gluten allergy A gluten allergy is usually distinct from gluten sensitivity or Celiac disease. owl:Class HP:0030892 biolink:NamedThing Deep cerebral white matter hyperintensities Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system. tmpxe7fu0cj_hp_relaxed.owl DWMH See also defintion for "Periventricular white matter hyperintensities". These two entities are in contra-distinction to each other. ORCID:0000-0002-5316-1399 owl:Class HP:0000642 biolink:NamedThing Red-green dyschromatopsia Difficulty with discriminating red and green hues. tmpxe7fu0cj_hp_relaxed.owl Red green colour blindness|Red/green color vision defect|Red green color blindness|Red/green colour vision defect|Dyschromatopsia with red-green confusion SNOMEDCT_US:77479002|SNOMEDCT_US:246674000|UMLS:C1970168|MSH:D003117|UMLS:C0155016 HP:0007960 human_phenotype owl:Class HP:0030826 biolink:NamedThing Eyelid fasciculation Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching. tmpxe7fu0cj_hp_relaxed.owl Fasciculation of the eyelid|Muscle twitches in eyelid|Muscle twitches in eye lid|Eyelid fluttering|Twitching around eyes UMLS:C4280682 owl:Class CHEBI:35571 biolink:NamedThing mancude organic heterocyclic parent tmpxe7fu0cj_hp_relaxed.owl mancude organic heterocyclic parents|mancude-ring organic heterocyclic parents chebi_ontology owl:Class HP:0011045 biolink:NamedThing Agenesis of permanent maxillary central incisor Agenesis of upper secondary incisor. tmpxe7fu0cj_hp_relaxed.owl Absence of permanent upper central incisor|Absence of permanent upper front tooth|Missing permanent upper central incisor|Missing permanent upper front tooth|Failure of development of permanent maxillary central incisor|Missing permanent maxillary central incisor|Absence of permanent maxillary central incisor|Missing adult upper central incisor|Agenesis of adult maxillary central incisor UMLS:C4280358|UMLS:C4023572|UMLS:C4280359 This feature is to be distinguished from single central upper incisor, which is median. peter 2011-03-10T11:20:25Z human_phenotype owl:Class HP:0007948 biolink:NamedThing Dense posterior cortical cataract A type of posterior cortical cataract characterized by dense lenticular opacities. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024767 human_phenotype owl:Class HP:0010924 biolink:NamedThing Posterior cortical cataract A cataract that affects the posterior part of the cortex of the lens. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023650 peter 2010-12-12T12:55:36Z human_phenotype owl:Class HP:0010690 biolink:NamedThing Mirror image hand polydactyly Mirror image duplication of digits affecting the hands only. tmpxe7fu0cj_hp_relaxed.owl Mirror image dupliction of fingers UMLS:C4021239 doelkens 2010-03-05T05:05:05Z human_phenotype owl:Class HP:0100798 biolink:NamedThing Fingernail dysplasia An abnormality of the development of the fingernails. tmpxe7fu0cj_hp_relaxed.owl Abnormal fingernail development|Dysplastic fingernails UMLS:C4020952 If possible, a more precise term should be chosen for annotation. doelkens 2011-06-08T04:23:53Z owl:Class HP:0031062 biolink:NamedThing Impaired transferring ability Applies to an individual who needs help in moving from bed to chair or requires a complete transfer. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 22:23:15+00:00 peter owl:Class HP:0030592 biolink:NamedThing Abnormal static perimetry test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073064 owl:Class HP:0100014 biolink:NamedThing Epiretinal membrane An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy. tmpxe7fu0cj_hp_relaxed.owl Epiretinal membranes|Premacular fibrosis|Macular pucker SNOMEDCT_US:367649002|MSH:D019773|UMLS:C0339543|SNOMEDCT_US:133853005 doelkens 2010-05-14T09:53:27Z human_phenotype owl:Class HP:0010296 biolink:NamedThing Ankyloglossia Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. tmpxe7fu0cj_hp_relaxed.owl Tongue tied|Tongue tie MSH:D000072676|UMLS:C0152415|SNOMEDCT_US:67787004 The anterior third of the tongue is usually free or is partially attached to the floor of the mouth by the lingual frenulum. There is a spectrum ranging from fusion of the tongue to the floor of the mouth (ankyloglossia inferiorum) to a lingual frenulum that is short or anchored toward the tip of the tongue (sometimes called tongue tie). Ankyloglossia may be associated with a mild indentation of the tip of the tongue, which should not be coded as a Bifid tongue. peter 2009-07-12T11:44:22Z human_phenotype owl:Class HP:0006456 biolink:NamedThing Irregular proximal tibial epiphyses Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular. tmpxe7fu0cj_hp_relaxed.owl Irregular innermost shinbone end part|Irregular innermost shankbone end part UMLS:C4025045 human_phenotype owl:Class HP:0011905 biolink:NamedThing Reduced hemoglobin A Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia. tmpxe7fu0cj_hp_relaxed.owl Reduced HbA|Reduced haemoglobin A UMLS:C4023138 peter 2012-06-03T05:07:19Z human_phenotype owl:Class HP:0011504 biolink:NamedThing Bull's eye maculopathy Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation. tmpxe7fu0cj_hp_relaxed.owl Chloroquine retinopathy UMLS:C0730330|MSH:C537833|SNOMEDCT_US:424169002|UMLS:C1828210|SNOMEDCT_US:312958000 peter 2012-04-06T08:57:53Z human_phenotype owl:Class HP:0008883 biolink:NamedThing Mild intrauterine growth retardation Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age. tmpxe7fu0cj_hp_relaxed.owl Mild prenatal growth deficiency UMLS:C1840006 HP:0008861 human_phenotype owl:Class HP:0025308 biolink:NamedThing Acute emergence over days Acute appearance of disease manifestations in a period of days. tmpxe7fu0cj_hp_relaxed.owl 2016-12-21 01:01:46+00:00 HPO:probinson owl:Class HP:0010546 biolink:NamedThing Muscle fibrillation Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG. tmpxe7fu0cj_hp_relaxed.owl Twitching UMLS:C0231531|SNOMEDCT_US:41405005 peter 2009-09-29T08:23:48Z human_phenotype owl:Class HP:0033180 biolink:NamedThing Torsion of appendix of testis The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention. tmpxe7fu0cj_hp_relaxed.owl Twisted vestigial remnant of the Muellerian duct 2020-09-28 22:15:53+00:00 peter owl:Class HP:0008169 biolink:NamedThing Reduced factor VII activity Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. tmpxe7fu0cj_hp_relaxed.owl Factor VII deficiency MSH:D005168|UMLS:C4024722|SNOMEDCT_US:37193007|UMLS:C0015503 human_phenotype owl:Class HP:0031750 biolink:NamedThing Lateral rectus muscle weakness Decreased strength (ability to move) of the lateral rectus muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:21:25+00:00 peter owl:Class HP:0003912 biolink:NamedThing Frayed humeral metaphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025514 human_phenotype owl:Class UBERON:0001012 biolink:NamedThing head of radius The head of the radius has a cylindrical form, and on its upper surface is a shallow cup or fovea for articulation with the capitulum (or capitellum) of the humerus. The circumference of the head is smooth; it is broad medially where it articulates with the radial notch of the ulna, narrow in the rest of its extent, which is embraced by the annular ligament. The deepest point in the fovea is not axi-symmetric with the long axis of the radius, creating a cam effect during pronation and supination[WP]. tmpxe7fu0cj_hp_relaxed.owl radial head|caput radii FMA:33773|galen:HeadOfRadius http://upload.wikimedia.org/wikipedia/commons/4/47/Gray214.png uberon owl:Class HP:0033701 biolink:NamedThing Cortical sclerosis of the iliac wing Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing. tmpxe7fu0cj_hp_relaxed.owl 2021-03-12 12:07:04+00:00 See Figure 3B of PMID:17404618. peter owl:Class HP:0003868 biolink:NamedThing Humeral cortical thickening tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025542 human_phenotype owl:Class UBERON:0004250 biolink:NamedThing upper arm bone A bone that is part of a forelimb stylopod [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl humerus EMAPA:35892|MA:0000604 May be merged into humerus. See: https://sourceforge.net/tracker/index.php?func=detail&aid=3586533&group_id=76834&atid=1205376 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Skeleton-partonomy-Design-Pattern CHEBI:36711 biolink:NamedThing phosphoethanolamine tmpxe7fu0cj_hp_relaxed.owl phosphoethanolamines chebi_ontology owl:Class HP:0031521 biolink:NamedThing Vaginal clear cell adenocarcinoma A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm. tmpxe7fu0cj_hp_relaxed.owl Clear cell adenocarcinoma of the vagina 2017-09-23 01:45:41+00:00 peter owl:Class HP:0100184 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the middle bone of the 4th toe UMLS:C4022237 doelkens 2010-06-24T04:54:13Z human_phenotype owl:Class GO:0051027 biolink:NamedThing DNA transport The directed movement of RNA, deoxyribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0032662 biolink:NamedThing Focal-onset seizure evolving into bilateral convulsive status epilepticus A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. tmpxe7fu0cj_hp_relaxed.owl Focal-onset seizure evolving into generalised convulsive status epilepticus|Focal onset seizure evolving into bilateral convulsive status epilepticus|Focal-onset seizure evolving into generalized convulsive status epilepticus|Secondarily generalized tonic-clonic status epilepticus|Partial onset seizure evolving into convulsive status epilepticus|Secondarily generalized convulsive status epilepticus|Secondarily generalised convulsive status epilepticus|Secondarily generalised tonic-clonic status epilepticus|Partial-onset seizure evolving into convulsive status epilepticus peter owl:Class HP:0007334 biolink:NamedThing Bilateral tonic-clonic seizure with focal onset A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. tmpxe7fu0cj_hp_relaxed.owl Focal to bilateral tonic-clonic seizure|Partial seizure with secondary generalisation|Partial seizures with secondary generalisation|Secondarily generalized tonic-clonic seizure|'Generalised' tonic-clonic seizure with partial onset|Secondary generalised tonic-clonic seizures|Partial seizures with secondary generalization|Secondarily generalised tonic-clonic seizure|Secondary generalized tonic clonic seizures|Generalized tonic-clonic seizures with focal onset|Focal seizure with secondary generalisation|Secondary generalized tonic-clonic seizures|Focal seizure with secondary generalization|'Generalized' tonic-clonic seizure with focal onset|'Generalized' tonic-clonic seizure with partial onset|'Generalised' tonic-clonic seizure with focal onset|Secondary generalised tonic clonic seizures|Partial seizure with secondary generalization|Secondarily generalised tonic-clonic seizures|Generalised tonic-clonic seizures with focal onset UMLS:C0877017 The ILAE 2017 classification refers to this seizure type as a focal to bilateral tonic-clonic seizure. Previously it has been known as a secondarily generalized tonic-clonic seizure. The focal features of the seizure may be clinically manifest or alternatively, the spread in brain networks may be so rapid that no preceding focal symptom or sign is identified with demonstration of the focal onset resting on investigations. Note that not all instances of a Bilateral tonic-clonic seizure with focal onset will be a Focal motor seizure, some will be a Focal non-motor seizure, thus one can only say that there is a Focal-onset. HP:0002602 human_phenotype owl:Class HP:0007432 biolink:NamedThing Intermittent generalized erythematous papular rash tmpxe7fu0cj_hp_relaxed.owl Intermittent generalised erythematous papular rash UMLS:C2749995 human_phenotype owl:Class HP:0031099 biolink:NamedThing Abnormal circulating inhibin level Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone. tmpxe7fu0cj_hp_relaxed.owl 2017-05-30 02:18:01+00:00 peter owl:Class HP:0007348 biolink:NamedThing Hypoplasia of the pyramidal tract tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850871 human_phenotype owl:Class HP:0008071 biolink:NamedThing Maternal hypertension Increased blood pressure during a pregnancy. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:288250001|UMLS:C0565599 human_phenotype owl:Class HP:0100603 biolink:NamedThing Toxemia of pregnancy Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia. tmpxe7fu0cj_hp_relaxed.owl Hypertensive disorder of pregnancy|Toxaemia of pregnancy SNOMEDCT_US:15394000|UMLS:C0032914|SNOMEDCT_US:398254007|MSH:D011225 doelkens 2010-12-27T05:27:41Z human_phenotype owl:Class HP:0033854 biolink:NamedThing Abnormal interlobular vein morphology Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct). tmpxe7fu0cj_hp_relaxed.owl 2021-06-02 18:58:25+00:00 peter owl:Class HP:0033852 biolink:NamedThing Abnormal intrarenal vein morphology Abnormal structure of a vein located inside the kidney parenchyma. tmpxe7fu0cj_hp_relaxed.owl 2021-06-02 18:53:31+00:00 peter owl:Class GO:0010692 biolink:NamedThing regulation of alkaline phosphatase activity Any process that modulates the frequency, rate or extent of alkaline phosphatase activity, the catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009752 biolink:NamedThing Cleft in skull base A bony defect in the skull base. tmpxe7fu0cj_hp_relaxed.owl Cleft in cranial base|Cleft in skull base UMLS:C1856027 peter 2009-01-31T05:45:00Z human_phenotype owl:Class HP:0011613 biolink:NamedThing Interrupted aortic arch type B Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries. tmpxe7fu0cj_hp_relaxed.owl Interrupted aortic arch, type b SNOMEDCT_US:253682003|UMLS:C0345093|Fyler:1252 peter 2012-04-08T03:18:58Z human_phenotype owl:Class GO:0033750 biolink:NamedThing ribosome localization A process in which a ribosome is transported to, and/or maintained in, a specific location. tmpxe7fu0cj_hp_relaxed.owl establishment of ribosome localisation|ribosome localisation|establishment of ribosome localization GO:0033753 biological_process owl:Class HP:0025215 biolink:NamedThing Triggered by febrile illness Applies to a sign or symptom that is provoked or brought about by febrile illness. tmpxe7fu0cj_hp_relaxed.owl Febrile illness triggered symptoms|Triggered by fever 2016-12-10 14:00:39+00:00 HPO:probinson owl:Class HP:0100518 biolink:NamedThing Dysuria Painful or difficult urination. tmpxe7fu0cj_hp_relaxed.owl Dull burning sensation with urination|Painful or difficult urination SNOMEDCT_US:49650001|UMLS:C0013428|MSH:D053159 doelkens 2010-12-20T10:40:36Z human_phenotype owl:Class HP:0030740 biolink:NamedThing Anomalous muscle bundle of the right ventricle An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract. tmpxe7fu0cj_hp_relaxed.owl Right ventricular anomalous muscle bundle UMLS:C4280792 The anomalous muscle bundle is triangular in shape, with its apex attached to the anterior aspect of the ventricular septum immediately above and in front of the ventricular septal defect. It crosses the right ventricular chamber to insert at the apical portion of the anterior wall of the right ventricle (PMID:708529). owl:Class GO:0035702 biolink:NamedThing monocyte homeostasis The process of regulating the proliferation and elimination of monocytes such that the total number of monocytes within a whole or part of an organism is stable over time in the absence of an outside stimulus. tmpxe7fu0cj_hp_relaxed.owl bf 2011-03-02T11:32:57Z biological_process owl:Class HP:0033310 biolink:NamedThing Osmotic diarrhea Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 22:20:52+00:00 Osmotic diarrhea involves an unabsorbed substance that draws water from the plasma into the intestinal lumen along osmotic gradients. Secretory diarrhea results from disordered electrolyte transport and, despite the term, is more commonly caused by decreased absorption rather than net secretion. Inflammatory diseases cause diarrhea with exudative, secretory, or osmotic components. peter owl:Class UBERON:0010538 biolink:NamedThing paired limb/fin segment An appendage segment that is part of a limb/fin. tmpxe7fu0cj_hp_relaxed.owl limb/fin segment uberon owl:Class HP:0033393 biolink:NamedThing Irregularly shaped sperm tail Irregular or changing caliber (diameter) along the tail of the sperm. tmpxe7fu0cj_hp_relaxed.owl Sperm flagella with irregular calibre|Sperm flagella with irregular caliber 2021-01-06 12:41:14+00:00 peter owl:Class HP:0030790 biolink:NamedThing Abnormal cerumen color An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color. tmpxe7fu0cj_hp_relaxed.owl Abnormal cerumen pigmentation|Abnormal cerumen colour UMLS:C4280768 owl:Class HP:0011253 biolink:NamedThing Type I cryptotia A type of cryptotia associated with reduction in size of the antihelix and superior crus. tmpxe7fu0cj_hp_relaxed.owl Type 1 cryptotia UMLS:C4023442 peter 2011-12-18T02:14:49Z human_phenotype owl:Class HP:0011252 biolink:NamedThing Cryptotia Invagination of the superior part of the auricle under a fold of temporal skin. tmpxe7fu0cj_hp_relaxed.owl Buried ear|Hidden ear SNOMEDCT_US:429967001|UMLS:C2315717 There are associated anomalies of the upper antihelix and crura. The upper one-third of the auricle is primarily affected and there is an inferomedial displacement of the Helical Darwin tubercle. Two types are recognized. Type I: the antihelix and superior crus are reduced in size; type II: it is the antihelix and inferior crus that are affected. peter 2011-12-18T02:12:10Z human_phenotype owl:Class HP:0011461 biolink:NamedThing Fetal onset Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). tmpxe7fu0cj_hp_relaxed.owl Foetal onset UMLS:C4023347 The time interval of a gestation is called the gestation period. In human obstetrics, gestational age refers to the fertilization age plus two weeks. This is approximately the duration since the woman's last menstrual period began. peter 2012-03-25T06:58:21Z owl:Class GO:0060501 biolink:NamedThing positive regulation of epithelial cell proliferation involved in lung morphogenesis Any process that increases the rate or frequency of epithelial cell proliferation that results in the lung attaining its shape. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0008226 biolink:NamedThing Androgen insufficiency Insufficient amount of androgenic activity. tmpxe7fu0cj_hp_relaxed.owl Hypoandrogenism SNOMEDCT_US:38825009|UMLS:C0342527 owl:Class HP:0006633 biolink:NamedThing Glenoid fossa hypoplasia Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic glenoid fossa|Glenoid hypoplasia UMLS:C1834384 HP:0006632 human_phenotype owl:Class HP:0033320 biolink:NamedThing Mesangial cell loss Loss of mesangial cells segmentally or globally. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 13:43:05+00:00 Mesangial cell loss can be observed in the setting of mesangiolysis. peter owl:Class HP:0033231 biolink:NamedThing Abnormal glomerular mesangial cellularity Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2020-10-31 12:41:42+00:00 peter owl:Class HP:0031770 biolink:NamedThing Epicanthus palpebralis A type of epicanthus in which a medial vertical fold is present between upper and lower lids. tmpxe7fu0cj_hp_relaxed.owl 2018-01-25 11:23:16+00:00 peter owl:Class HP:0005976 biolink:NamedThing Hyperkalemic metabolic acidosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C1865880 human_phenotype owl:Class HP:0012721 biolink:NamedThing Venous malformation A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region. tmpxe7fu0cj_hp_relaxed.owl Venous malformations UMLS:C2937220|SNOMEDCT_US:297222002 Venous malformations are always present at birth, and usually involve the skin of the face, limbs, or trunk. peter 2014-03-23T01:20:33Z human_phenotype owl:Class HP:0033385 biolink:NamedThing Elevated urine pyridinoline level An increased amount of pyridinoline in the urine. tmpxe7fu0cj_hp_relaxed.owl Elevated urine hydroxylysyl-pyridinoline level 2021-01-02 13:31:16+00:00 The urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) and hydroxylysyl-pyridinoline (HP, or pyridinoline PYD) are biochemical markers of osteoclastic bone resorption and collagen degradation. Pyridinolines are formed during fibril formation of type I and type II collagen in the extracellular matrix. Some lysyl- and hydroxylysyl-residues in distinct positions in the collagen triple-helix and in the telopeptides of the tropocollagen are oxidised by lysyl oxidase. Subsequently three of these residues are covalently linked thereby interconnecting tropocollagen molecules and stabilizing the collagen matrix. When bone collagen is degraded, pyridinolines remain as stable degradation products and are secreted with the urine. peter owl:Class HP:0200071 biolink:NamedThing Peripheral vitreoretinal degeneration A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3280349 sebastiankohler 2013-05-31T01:49:02Z human_phenotype owl:Class HP:0010672 biolink:NamedThing Abnormality of the third metatarsal bone An abnormality of the third metatarsal bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the 3rd long bone of foot UMLS:C4023748 peter 2010-02-26T08:22:51Z human_phenotype owl:Class UBERON:0011277 biolink:NamedThing nail of manual digit 5 A nail that is part of a manual digit 5. tmpxe7fu0cj_hp_relaxed.owl nail plate of little finger|claw of digit 5 of fore-paw|nail of manual digit V|nail of little finger|little finger nail|nail of fifth finger FMA:54341|EMAPA:18738 uberon owl:Class UBERON:0010299 biolink:NamedThing scleral mesenchyme Mesenchyme surrounding the developing optic cup which develops into the sclera. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class The mesenchyme surrounding the developing optic cup differentiates into the sclera, the dense fibrous coat of the eye.. http://www.ncbi.nlm.nih.gov/pubmed/16496288 HP:0030920 biolink:NamedThing 5-minute APGAR score of 0 tmpxe7fu0cj_hp_relaxed.owl 2016-11-07 18:14:18+00:00 robinp owl:Class UBERON:0011202 biolink:NamedThing urachus epithelium An epithelium that is part of a urachus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1711256|NCIT:C54210|EHDAA2:0004725 uberon owl:Class HP:0012840 biolink:NamedThing Proximal Localized close to the central point of the body. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0205107|SNOMEDCT_US:40415009 peter 2014-06-06T07:30:42Z human_phenotype owl:Class MPATH:622 biolink:NamedThing steatosis Abnormal retention of lipids within a cell. Physically apparent as lipid within liposomes of parenchymal cells. tmpxe7fu0cj_hp_relaxed.owl fatty change|lipidosis|adipose degeneration|fatty degeneration Most commonly associated with degenerative change in the liver. mouse_pathology.ontology owl:Class HP:0007483 biolink:NamedThing Depigmentation/hyperpigmentation of skin tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024864 human_phenotype owl:Class HP:0012471 biolink:NamedThing Thick vermilion border Increased width of the skin of vermilion border region of upper lip. tmpxe7fu0cj_hp_relaxed.owl Increased volume of lip|Plump lips|Full lips|Prominent lips|Thick lips|Increased volume of lip vermillion UMLS:C1836543 peter 2013-11-26T09:07:51Z human_phenotype owl:Class HP:0500261 biolink:NamedThing Triggered by anesthetics Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics. tmpxe7fu0cj_hp_relaxed.owl Anesthetics trigger episodes|Anaesthetics triggered symptoms|Triggered by anaesthetics|Anesthetics triggered symptoms|Anaesthetics trigger episodes 2019-04-30 14:21:26+00:00 Symptoms that are provoked by anesthetics adminstration, including halothane, sevoflurane, desflurane, enflurane, isoflurane, propofol, or etomidate. owl:Class HP:0005217 biolink:NamedThing Duplication of internal organs tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025234 human_phenotype owl:Class HP:0200016 biolink:NamedThing Acrokeratosis Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet. tmpxe7fu0cj_hp_relaxed.owl Acral keratosis UMLS:C0001202|SNOMEDCT_US:46629009 sebastiankohler 2010-06-16T12:18:42Z human_phenotype owl:Class NBO:0000420 biolink:NamedThing bruxism "A NREM parasomnia characterised by Involuntarily grinding of teeth while sleeping." [MBP:GVG] HP:0003763 tmpxe7fu0cj_hp_relaxed.owl teeth grinding| 2011-04-07T01:20:00Z George Gkoutos behavior_ontology owl:Class UBERON:0007237 biolink:NamedThing 1st arch mandibular component tmpxe7fu0cj_hp_relaxed.owl ventral pharyngeal arch 1|ventral visceral arch 1|ventral mandibular arch EHDAA:583|EHDAA2:0000031|EMAPA:16382|VHOG:0000510 relationship to Meckel's cartilage to be added uberon owl:Class Subsequent vertebrate evolution has also involved major alterations to the pharynx; perhaps the most notable occurred with the evolution of the gnathostomes. This involved substantial modifications to the most anterior pharyngeal segments, with the jaw forming from the first, anterior, pharyngeal segment, while the second formed its supporting apparatus, the hyoid.[well established][VHOG] HP:0001082 biolink:NamedThing Cholecystitis The presence of inflammatory changes in the gallbladder. tmpxe7fu0cj_hp_relaxed.owl Gallbladder inflammation SNOMEDCT_US:76581006|MSH:D002764|UMLS:C0008325 human_phenotype owl:Class HP:0012438 biolink:NamedThing Abnormal gallbladder physiology A functional anomaly of the gallbladder. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022903 peter 2013-11-23T01:17:00Z human_phenotype owl:Class HP:0011251 biolink:NamedThing Underdeveloped antitragus Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. tmpxe7fu0cj_hp_relaxed.owl Hypotrophic antitragus|Hypoplastic antitragus|Small antitragus UMLS:C4021186 peter 2011-12-18T01:59:04Z human_phenotype owl:Class HP:0008186 biolink:NamedThing Adrenocortical cytomegaly The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851720 This feature is common in Beckwith Wiedemann syndrome. human_phenotype owl:Class HP:0030157 biolink:NamedThing Flank pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank. tmpxe7fu0cj_hp_relaxed.owl Flank pain|Kidney pain SNOMEDCT_US:247355005|UMLS:C0016199|MSH:D021501 The flank is the area on the side of the abdomen between the ribs and the hip. owl:Class CHEBI:23622 biolink:NamedThing deoxygalactose tmpxe7fu0cj_hp_relaxed.owl deoxygalactoses|deoxygalactose chebi_ontology owl:Class HP:0004022 biolink:NamedThing Sclerotic radial metaphysis with longitudinal striations tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025438 human_phenotype owl:Class HP:0003405 biolink:NamedThing Diffuse axonal swelling tmpxe7fu0cj_hp_relaxed.owl UMLS:C1865417 human_phenotype owl:Class HP:0004478 biolink:NamedThing Ethmoidal encephalocele tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843495 human_phenotype owl:Class NCBITaxon:337687 biolink:NamedThing Muroidea tmpxe7fu0cj_hp_relaxed.owl PMID:15371245|PMID:15019624|GC_ID:1 ncbi_taxonomy owl:Class GO:2000216 biolink:NamedThing positive regulation of proline metabolic process Any process that activates or increases the frequency, rate or extent of proline metabolic process. tmpxe7fu0cj_hp_relaxed.owl positive regulation of proline metabolism mah 2010-11-03T02:45:27Z biological_process owl:Class HP:0010484 biolink:NamedThing Hypertrophy of the upper limb Abnormal increase in size of the upper limbs (due to an increase of the size of cells). tmpxe7fu0cj_hp_relaxed.owl Increased size of upper limb UMLS:C0575518|SNOMEDCT_US:298745009 peter 2009-09-16T09:23:57Z human_phenotype owl:Class HP:0031020 biolink:NamedThing Bone marrow hypercellularity A larger than normal amount or percentage of hematopoietic cells relative to marrow fat. tmpxe7fu0cj_hp_relaxed.owl 2017-06-14 16:35:25+00:00 robinp owl:Class HP:0010955 biolink:NamedThing Dilatation of the bladder The presence of a dilated urinary bladder. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0549253 peter 2011-01-18T10:42:26Z human_phenotype owl:Class HP:0009340 biolink:NamedThing Irregular epiphysis of the distal phalanx of the 3rd finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the outermost long bone of the middle finger UMLS:C4024427 doelkens 2009-01-12T11:18:33Z human_phenotype owl:Class HP:0010983 biolink:NamedThing Oligogenic inheritance A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1136026|MSH:D020412 peter 2011-02-08T10:13:16Z human_phenotype owl:Class HP:0007889 biolink:NamedThing Iridescent posterior subcapsular cataract A type of posterior subcapsular cataract characterized by an iridescent color. tmpxe7fu0cj_hp_relaxed.owl Cataracts, posterior, subcapsular, iridescent UMLS:C1864573 human_phenotype owl:Class HP:0030363 biolink:NamedThing Primary Caesarian section Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072903 owl:Class HP:0032612 biolink:NamedThing Triphalangeal hallux A hallux (big toe) with three phalanges in a single, proximo-distal axis. tmpxe7fu0cj_hp_relaxed.owl This feature can be seen in Figure 1c of PMID:22486404. peter owl:Class HP:0006460 biolink:NamedThing Increased laxity of ankles tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850854 human_phenotype owl:Class HP:0012846 biolink:NamedThing Multiple trichilemmomata Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle. tmpxe7fu0cj_hp_relaxed.owl Multiple trichilemmomas UMLS:C4021063 peter 2014-06-06T08:07:30Z human_phenotype owl:Class HP:0100735 biolink:NamedThing Hypertensive crisis tmpxe7fu0cj_hp_relaxed.owl UMLS:C0020546|SNOMEDCT_US:706882009 doelkens 2011-06-06T05:38:31Z human_phenotype owl:Class HP:0011457 biolink:NamedThing Loss of eyelashes This term refers to the loss of eyelashes that were previously present. tmpxe7fu0cj_hp_relaxed.owl Milphosis|Ciliary Madarosis|Missing eyelashes|Loss of eyelashes|Eyelashes fell out UMLS:C0271321|SNOMEDCT_US:34887006 Common causes of loss of eyelashes include inflammation, autoimmunity, tumors,endocrine disorders, drugs and medications, and a number of congenital conditions. peter 2012-03-25T09:15:21Z human_phenotype owl:Class HP:0033762 biolink:NamedThing Middle cerebral artery stroke Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain. tmpxe7fu0cj_hp_relaxed.owl 2021-04-30 11:06:49+00:00 peter owl:Class HP:0500266 biolink:NamedThing Decreased proportion of CD8-positive, alpha-beta TEMRA T cells An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. tmpxe7fu0cj_hp_relaxed.owl Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated 2020-05-15 19:36:00+00:00 owl:Class HP:0004319 biolink:NamedThing Decreased circulating aldosterone level Abnormally reduced levels of aldosterone. tmpxe7fu0cj_hp_relaxed.owl Decreased aldosterone|Mineralocorticoid insufficiency|Hypoaldosteronism|Decreased aldosterone production|Decreased serum aldosterone|Low blood aldosterone level UMLS:C1846226|UMLS:C0857899|SNOMEDCT_US:60086000|MSH:D006994|UMLS:C0020595 Aldosterone is a hormone that is produce by the adrenal cortex and that acts on the distal tubules and collecting ducts to favor retention of sodium excretion of potassium, and increased water retention, thereby tending to increase blood pressure. Aldosterone is sometimes called a mineralocorticoid because of its influence on sodium homeostasis. peter 2008-02-25T10:45:00Z HP:0008190|HP:0000355|HP:0008184|HP:0002924 human_phenotype owl:Class HP:0032090 biolink:NamedThing Intralamellar aortic medial fibrosis A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units. tmpxe7fu0cj_hp_relaxed.owl 2018-10-14 15:08:14+00:00 peter owl:Class HP:0031573 biolink:NamedThing Tessier number 2 facial cleft As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening. tmpxe7fu0cj_hp_relaxed.owl 2017-10-14 12:36:28+00:00 peter owl:Class UBERON:0002457 biolink:NamedThing intersomitic artery The small branching sprouts of the dorsal aorta that grow across the medial surface of the somite, turn right angles to grow over that surface and then fuse with other sprouts and form the vertebral arteries adjacent to the neural tube; the intersomitic arteries supply the body wall and persist in the adult as the posterior intercostal, subcostal and the lumbar arteries. tmpxe7fu0cj_hp_relaxed.owl intersegmental arteries|intersegmental artery ZFA:0001061|EHDAA:4340|EHDAA2:0000882|EMAPA:17616|MA:0001985|XAO:0004165|VHOG:0000225|TAO:0001061 UBERON:0006001 uberon owl:Class Arteries that connect the dorsal aorta and the dorsal longitudinal anastomotic vessel. They run along the vertical myotomal boundaries. At early stages these vessels don't have venous or arteriproperty_value external_definitionmarkers. They form from the primary sprouts from the dorsal aorta[ZFA:0001061]. Few changes of evolutionary significance occur in the branching pattern of the dorsal aorta. All vertebrates have (...) paired intersegmental arteries to the trunk, tail, and paired appendages.[well established][VHOG] HP:0020190 biolink:NamedThing Perisylvian predominant thick cortex pachygyria Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. tmpxe7fu0cj_hp_relaxed.owl Pachygyria with cortical thickness > 10 mm perisylvian predominant robinp 2019-09-03 13:03:33+00:00 owl:Class UBERON:0029636 biolink:NamedThing lumbar spinal cord gray matter tmpxe7fu0cj_hp_relaxed.owl lumbar spinal cord gray matter BIRNLEX:1624 uberon owl:Class GO:0044065 biolink:NamedThing regulation of respiratory system process Any process that modulates the frequency, rate or extent of a respiratory system process, an organ system process carried out by any of the organs or tissues of the respiratory system. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class CHEBI:27248 biolink:NamedThing urocanic acid An alpha,beta-unsaturated monocarboxylic acid that is prop-2-enoic acid substituted by a 1H-imidazol-4-yl group at position 3. It is a metabolite of hidtidine. tmpxe7fu0cj_hp_relaxed.owl 3-(1H-imidazol-4-yl)prop-2-enoic acid|3-(1H-imidazol-4-yl)-2-propenoic acid|3-imidazol-4-ylacrylic acid 0 C6H6N2O2 InChI=1S/C6H6N2O2/c9-6(10)2-1-5-3-7-4-8-5/h1-4H,(H,7,8)(H,9,10) LOIYMIARKYCTBW-UHFFFAOYSA-N 138.12412 138.04293 [H]C(=C([H])c1c[nH]cn1)C(O)=O Reaxys:8128219|ECMDB:ECMDB21396|Beilstein:8128219|PMID:24627570|PMID:11669511|PMID:24397532|PDBeChem:URO|MetaCyc:UROCANATE|HMDB:HMDB0000301|Wikipedia:Urocanic_acid|CAS:104-98-3 chebi_ontology owl:Class CHEBI:17634 biolink:NamedThing D-glucose A glucose with D-configuration. tmpxe7fu0cj_hp_relaxed.owl D-gluco-hexose|Traubenzucker|D-glucose|D(+)-glucose|D-(+)-glucose|dextrose|grape sugar 0 C6H12O6 180.15588 180.06339 CAS:50-99-7 CHEBI:20999|CHEBI:12965 chebi_ontology owl:Class HP:0004635 biolink:NamedThing Cervical C5/C6 vertebrae fusion Fusion of the C5 and C6 cervical vertebrae. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025301 human_phenotype owl:Class HP:0006268 biolink:NamedThing Fluctuating splenomegaly Intermittently increased size of the spleen. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1835882 human_phenotype owl:Class HP:0012725 biolink:NamedThing Cutaneous syndactyly A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. tmpxe7fu0cj_hp_relaxed.owl Cutaneous syndactyly of digits|Syndactyly, cutaneous UMLS:C1861921 peter 2014-03-23T01:40:45Z human_phenotype owl:Class NCBITaxon:3312 biolink:NamedThing Coniferophyta tmpxe7fu0cj_hp_relaxed.owl conifers GC_ID:1 ncbi_taxonomy owl:Class HP:0033923 biolink:NamedThing Renal arteriole foam cell endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. tmpxe7fu0cj_hp_relaxed.owl Endoarterial hypercellularity within arterioles consisting of foam cells 2021-06-24 01:02:44+00:00 peter owl:Class HP:0033922 biolink:NamedThing Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes). tmpxe7fu0cj_hp_relaxed.owl 2021-06-24 01:00:27+00:00 peter owl:Class HP:0001604 biolink:NamedThing Vocal cord paresis Decreased strength of the vocal folds. tmpxe7fu0cj_hp_relaxed.owl Hoarse voice due to vocal cord paresis|Vocal cord paresis in severe cases|Weakness of the vocal cords SNOMEDCT_US:445424004|UMLS:C1832690|UMLS:C1853729|UMLS:C1843187|UMLS:C0751576|MSH:D014826|SNOMEDCT_US:302912005 Vocal cord paresis can be characterized by a hoarseness, reduced volume of speech, aspiration and pain in the throat. HP:0008745|HP:0001616|HP:0001603 human_phenotype owl:Class HP:0007407 biolink:NamedThing Excessive skin wrinkling on dorsum of hands and fingers tmpxe7fu0cj_hp_relaxed.owl Excessive skin wrinkling on back of hands and fingers UMLS:C1837467 human_phenotype owl:Class UBERON:0004234 biolink:NamedThing iris smooth muscle A portion of smooth muscle tissue that is part of a iris [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl iris smooth muscle tissue|involuntary muscle of iris|non-striated muscle of iris|smooth muscle of iris|iris involuntary muscle|smooth muscle tissue of iris|iridial smooth muscle|iris non-striated muscle MA:0001270|FMA:312338|EMAPA:35448|BTO:0000655 see notes for muscle of iris. uberon owl:Class UBERON:0003560 biolink:NamedThing spinal cord arachnoid mater An arachnoid mater that is part of a spinal cord [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl spinal cord arachnoid|arachnoid mater of neuraxis of spinal cord|arachnoid mater of spinal cord|spinal cord arachnoid mater of neuraxis|arachnoid of spinal cord MA:0001131|EMAPA:17805|VHOG:0000234 uberon owl:Class The middle membrane of the three mammalian meninges covering the brain and spinal cord. [TFD][VHOG] In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] UBERON:0014437 biolink:NamedThing iliac crest Is part of the pelvis on the edge of the wing of the ilium. Round in shape, dorsal to the pubis and ischium. Acts as structrure that muscles can attach too. tmpxe7fu0cj_hp_relaxed.owl MA:0003053|NCIT:C103818|FMA:16914|EMAPA:37602 uberon owl:Class CL:2000004 biolink:NamedThing pituitary gland cell Any cell that is part of a pituitary gland. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-03-26T22:14:56Z cell owl:Class HP:0012228 biolink:NamedThing Tension-type headache A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs. tmpxe7fu0cj_hp_relaxed.owl Tension-type headache SNOMEDCT_US:398057008|MSH:D018781|UMLS:C0033893|ICD-10:G44.2|SNOMEDCT_US:66551002 peter 2013-03-30T07:50:13Z human_phenotype owl:Class HP:0500099 biolink:NamedThing Hair xenobiotic Presence of xenobiotic in hair. tmpxe7fu0cj_hp_relaxed.owl 2018-05-21 13:44:10+00:00 owl:Class HP:0009623 biolink:NamedThing Proximal placement of thumb Proximal mislocalization of the thumb. tmpxe7fu0cj_hp_relaxed.owl Low implantation of the thumb|Attachment of thumb close to wrist|Low-set thumb|Proximally placed thumbs UMLS:C1865572 Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. doelkens 2009-01-29T04:40:23Z HP:0005668|HP:0001170 owl:Class UBERON:0004945 biolink:NamedThing submucosa of neck of urinary bladder A submucosa that is part of a neck of urinary bladder [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl bladder neck submucosa|urinary bladder neck submucosa|neck of urinary bladder submucosa|neck of bladder submucosa|submucosa of urinary bladder neck|submucosa of neck of bladder|vesical neck submucosa|submucosa of vesical neck|submucosa of bladder neck EMAPA:32276|FMA:17851 uberon owl:Class PR:000050187 biolink:NamedThing IgD heavy chain protein (human) An IgD heavy chain protein that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl immunoglobulin delta heavy chain (human)|hIgHD|immunoglobulin heavy chain delta (human)|immunoglobulin D heavy chain (human) Category=organism-gene. protein owl:Class HP:0100231 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 5th toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fifth toe. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022190 doelkens 2010-06-24T05:04:53Z owl:Class PATO:0001956 biolink:NamedThing variability of size A variability quality inhering in a bearer by virtue of whether the bearer exhibits size variation or change. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class UBERON:0015083 biolink:NamedThing proximal tarsal bone pre-cartilage condensation A proximal tarsal endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:1900118 biolink:NamedThing negative regulation of execution phase of apoptosis Any process that stops, prevents or reduces the frequency, rate or extent of execution phase of apoptosis. tmpxe7fu0cj_hp_relaxed.owl downregulation of execution phase of apoptosis|down-regulation of execution phase of apoptosis|down regulation of execution phase of apoptosis|inhibition of execution phase of apoptosis pr 2012-02-22T11:26:24Z biological_process owl:Class HP:0000113 biolink:NamedThing Polycystic kidney dysplasia The presence of multiple cysts in both kidneys. tmpxe7fu0cj_hp_relaxed.owl Polycystic kidneys|Polycystic kidney disease|Enlarged polycystic kidneys Fyler:4508|MSH:D007690|SNOMEDCT_US:82525005|UMLS:C0022680|UMLS:C1567435 Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys. HP:0008673|HP:0004739|HP:0004716|HP:0008699|HP:0008645|HP:0004740 human_phenotype owl:Class HP:0025243 biolink:NamedThing Subretinal hemorrhage Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium. tmpxe7fu0cj_hp_relaxed.owl Subretinal haemorrhage|Subretinal heme 2016-12-17 01:29:29+00:00 Subretinal hemorrhages are located deep in the retina, displaying a dark coloration with the retinal vessels clearly visible above. Subretinal hemorrhages tend not to be well delineated because of the lack of firm attachments between the neurosensory retina and the retinal pigment epithelium, allowing the blood to spread. HPO:probinson owl:Class HP:0410200 biolink:NamedThing Positive meconium barbiturate test Detection of barbiturate metabolites such as phenobarbital in meconium. tmpxe7fu0cj_hp_relaxed.owl 2018-07-20 23:02:36+00:00 owl:Class HP:0500098 biolink:NamedThing Meconium xenobiotic Presence of a xenobiotic in meconium. tmpxe7fu0cj_hp_relaxed.owl 2018-05-21 13:43:07+00:00 owl:Class HP:0000915 biolink:NamedThing Pectus excavatum of inferior sternum Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum. tmpxe7fu0cj_hp_relaxed.owl Pectus excavatum inferiorly UMLS:C1864796 human_phenotype owl:Class HP:0002234 biolink:NamedThing Early balding Loss of scalp hair at an earlier than normal age. tmpxe7fu0cj_hp_relaxed.owl Early balding UMLS:C4025718 human_phenotype owl:Class HP:0025515 biolink:NamedThing Delayed thelarche Later than normal development of the breasts. tmpxe7fu0cj_hp_relaxed.owl 2017-05-15 02:12:37+00:00 HPO:probinson owl:Class HP:0030750 biolink:NamedThing Grade III preterm intraventricular hemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles. tmpxe7fu0cj_hp_relaxed.owl Grade III preterm intraventricular haemorrhage UMLS:C4280787 owl:Class HP:0005586 biolink:NamedThing Hyperpigmentation in sun-exposed areas tmpxe7fu0cj_hp_relaxed.owl Hyperpigmentation of exposed areas|Increased pigmentation in sun-exposed areas UMLS:C3805877 human_phenotype owl:Class HP:0030723 biolink:NamedThing Congenital megalourethra Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280800 owl:Class HP:0030219 biolink:NamedThing Semantic dementia A progressive loss of the ability to remember the meaning of words, faces and objects. tmpxe7fu0cj_hp_relaxed.owl Trouble remembering words MSH:D057180|UMLS:C0338462|SNOMEDCT_US:230288001 owl:Class HP:0025607 biolink:NamedThing Upper eyelid entropion An inward turning (inversion) of the margin of the upper eyelid. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 22:44:13+00:00 HPO:probinson owl:Class HP:0001454 biolink:NamedThing Abnormality of the upper arm tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025776 peter 2008-04-07T10:41:00Z human_phenotype owl:Class HP:0012415 biolink:NamedThing Abnormal blood gas level An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. tmpxe7fu0cj_hp_relaxed.owl Abnormal blood gas level SNOMEDCT_US:312391003|UMLS:C0476337 peter 2013-11-10T04:59:20Z owl:Class HP:0006384 biolink:NamedThing Club-shaped distal femur An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. tmpxe7fu0cj_hp_relaxed.owl Club-shaped outermost end of thighbone|Club-shaped distal femora UMLS:C1857505 previous def: 'has part' some (clavate and ('inheres in' some 'Distal end of femur (adult human)') and ('has modifier' some abnormal)) HP:0006447 owl:Class HP:0032457 biolink:NamedThing 2-3-layered lissencephaly Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity. tmpxe7fu0cj_hp_relaxed.owl 2019-03-08 11:53:39+00:00 peter owl:Class GO:0030658 biolink:NamedThing transport vesicle membrane The lipid bilayer surrounding a transport vesicle. tmpxe7fu0cj_hp_relaxed.owl secretory vesicle membrane|constitutive secretory pathway transport vesicle membrane cellular_component owl:Class HP:0000634 biolink:NamedThing Impaired ocular abduction An impaired ability of the eye to move in the outward direction (towards the side of the head). tmpxe7fu0cj_hp_relaxed.owl UMLS:C1846462 human_phenotype owl:Class HP:0011347 biolink:NamedThing Abnormality of ocular abduction An abnormality involving the movement of the eye outwards. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023405 peter 2012-03-01T10:18:05Z human_phenotype owl:Class HP:0002439 biolink:NamedThing Frontolimbic dementia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1836151 owl:Class HP:0032408 biolink:NamedThing Breast mass A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician. tmpxe7fu0cj_hp_relaxed.owl Breast lump 2019-02-24 20:59:33+00:00 The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. The differential diagnosis of a breast mass includes fibrocystic disease, fibroadenomas, breast cancer, mammary duct ectasia, and intraductal papilloma. peter owl:Class UBERON:0012488 biolink:NamedThing muscle layer of duodenum A muscular coat that is part of a duodenum. tmpxe7fu0cj_hp_relaxed.owl duodenal muscularis propria|muscularis propria of duodenum|smooth muscle of duodenum|muscularis externa of duodenum FMA:14944 uberon owl:Class HP:0000117 biolink:NamedThing Renal phosphate wasting High urine phosphate in the presence of hypophosphatemia. tmpxe7fu0cj_hp_relaxed.owl Decreased renal tubular phosphate reabsorption|Tubular phosphate reabsorption low|Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate UMLS:C1845169 human_phenotype owl:Class HP:0033265 biolink:NamedThing Podocyte myelin figures Lamellated intracytoplasmic lipid inclusions within podocytes. tmpxe7fu0cj_hp_relaxed.owl Podocyte myelin inclusions 2020-11-28 15:14:49+00:00 peter owl:Class HP:0033119 biolink:NamedThing Elevated right ventricular systolic pressure Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg. tmpxe7fu0cj_hp_relaxed.owl 2020-09-03 12:08:23+00:00 In the absence of right ventricular (RV) outflow tract obstruction, RV systolic pressure is equal to pulmonary artery systolic pressure. The gold standard for the measurement of PH is right heart catheterization, but this is invasive with the inherent risk of complications. Echocardiography has been touted as providing an accurate measurement of the right ventricular systolic pressure based on the estimated flow of the tricuspid regurgitant jet. peter owl:Class HP:0001289 biolink:NamedThing Confusion Lack of clarity and coherence of thought, perception, understanding, or action. tmpxe7fu0cj_hp_relaxed.owl Confusion|Mental disorientation|Disorientation|Easily confused MSH:D003221|SNOMEDCT_US:286933003|UMLS:C0009676 HP:0000731 human_phenotype owl:Class HP:0032833 biolink:NamedThing Neonatal epileptic spasm A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters. tmpxe7fu0cj_hp_relaxed.owl May be difficult to differentiate from myoclonic seizures without electromyography. peter owl:Class HP:0005678 biolink:NamedThing Anterior atlanto-occipital dislocation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025157 human_phenotype owl:Class HP:0003414 biolink:NamedThing Atlantoaxial dislocation Partial dislocation of the atlantoaxial joint. tmpxe7fu0cj_hp_relaxed.owl Atlantoaxial subluxation|Atlanto-axial subluxation SNOMEDCT_US:45179004|SNOMEDCT_US:263042007|UMLS:C0263905 human_phenotype owl:Class CHEBI:36836 biolink:NamedThing 3beta-hydroxy steroid A 3-hydroxy steroid in which the 3-hydroxy substituent is in the beta-position. tmpxe7fu0cj_hp_relaxed.owl a 3beta-hydroxysteroid|3beta-hydroxy steroids 0 C19H31OR 275.450 275.23749 C12C(C3C(C(CC3)*)(C)CC1)CCC4C2(CC[C@@H](C4)O)C KEGG:C02945|PMID:10535978|MetaCyc:3-Beta-Hydroxysterols|PMID:12829805 CHEBI:71195 chebi_ontology owl:Class HP:0100441 biolink:NamedThing Bullet-shaped distal phalanx of the 4th toe An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped outermost bone of the 4th toe UMLS:C4022086 human_phenotype owl:Class HP:0033786 biolink:NamedThing Hypomature enamel Enamel with a white or brown discoloration without hypoplasia. tmpxe7fu0cj_hp_relaxed.owl Enamel opacity 2021-05-07 11:02:43+00:00 Enamel maturation is a process through which enamel matrix proteins are removed to allow full growth of the enamel hydroxyapatite crystals. Hypomature enamel can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. Hypomature enamel may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. The enamel is usually hard, colored but not translucid. It is a qualitative defect of enamel. peter owl:Class UBERON:0001534 biolink:NamedThing right subclavian artery The subclavian artery that supplies the right pectoral appendage. tmpxe7fu0cj_hp_relaxed.owl arteria subclavia dextra UMLS:C0226261|FMA:3953|EMAPA:37384|OpenCyc:Mx8Ngh4rvgHsHZwpEbGdrcN5Y29ycB4rvp8u1JwpEbGdrcN5Y29ycA|NCIT:C33490|OpenCyc:Mx4rtW7hwqgEEdudWQACs5b6Bw|EHDAA2:0004514|MA:0002047 http://upload.wikimedia.org/wikipedia/commons/e/e6/Gray506.svg uberon owl:Class in humans, arises from the relatively short brachiocephalic artery (trunk) when it bifurcates into the subclavian and the right common carotid artery proximal part arises from right 4th aortic arch in humans HP:0031451 biolink:NamedThing Lower extremity subcutanous fat hypertrophy An abnormal increase in the amount of subcutaneous fat in the legs. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 15:21:32+00:00 peter owl:Class HP:0005268 biolink:NamedThing Spontaneous abortion A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy. tmpxe7fu0cj_hp_relaxed.owl Miscarriage SNOMEDCT_US:17369002|MSH:D000022|UMLS:C0000786 owl:Class HP:0007843 biolink:NamedThing Attenuation of retinal blood vessels tmpxe7fu0cj_hp_relaxed.owl Narrowing of blood vessels in back of eye UMLS:C3278975 human_phenotype owl:Class HP:0010724 biolink:NamedThing Advanced pneumatization of the mastoid process An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021828 sdoelken 2010-04-20T10:38:57Z human_phenotype owl:Class GO:1904749 biolink:NamedThing regulation of protein localization to nucleolus Any process that modulates the frequency, rate or extent of protein localization to nucleolus. tmpxe7fu0cj_hp_relaxed.owl regulation of protein localisation to nucleolus|regulation of protein localization in nucleolus|regulation of protein localisation in nucleolus nc 2015-10-19T15:16:17Z biological_process owl:Class HP:0030124 biolink:NamedThing Reduced muscle fiber lamin A/C A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue. tmpxe7fu0cj_hp_relaxed.owl Reduced muscle fibre lamin A/C UMLS:C4022621 owl:Class HP:0030123 biolink:NamedThing Abnormal muscle fiber lamin A/C A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre lamin A/C UMLS:C4022622 owl:Class HP:0030709 biolink:NamedThing Myelocystocele Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0025312|MSH:D008591|SNOMEDCT_US:414667000|SNOMEDCT_US:203994003 Localized dilatation of the central canal of the spinal cord which produces a fluid-filled sac or diverticulum which then protrudes through the cord and the defective dorsal dura between the posterior parts of the vertebra. owl:Class HP:0002044 biolink:NamedThing Zollinger-Ellison syndrome A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration. tmpxe7fu0cj_hp_relaxed.owl MEDDRA:10048281|MSH:D015043|UMLS:C0043515|SNOMEDCT_US:53132006 Zollinger-Ellison syndrome may occur as a manifestation of multiple endocrine neoplasia type 1. human_phenotype owl:Class HP:0001370 biolink:NamedThing Rheumatoid arthritis Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. tmpxe7fu0cj_hp_relaxed.owl RA|Rheumatoid arthritis SNOMEDCT_US:69896004|MSH:D001172|UMLS:C0003873 human_phenotype owl:Class HP:0004923 biolink:NamedThing Hyperphenylalaninemia An increased concentration of L-phenylalanine in the blood. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:68528007|UMLS:C0751435|MSH:D010661 human_phenotype owl:Class HP:0031677 biolink:NamedThing Polymorphic ventricular tachycardia A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat). tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 17:08:41+00:00 peter owl:Class HP:0032196 biolink:NamedThing Prominent S wave in lead I Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram. tmpxe7fu0cj_hp_relaxed.owl 2019-01-19 13:32:59+00:00 peter owl:Class HP:0033239 biolink:NamedThing Visceral epithelial cell capping Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. tmpxe7fu0cj_hp_relaxed.owl Podocyte cap 2020-11-01 12:45:51+00:00 peter owl:Class HP:0012258 biolink:NamedThing Abnormal axonemal organization of respiratory motile cilia Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms. tmpxe7fu0cj_hp_relaxed.owl Abnormal axonemal organisation of respiratory motile cilia UMLS:C4022987 Abnormal axonemal organization comprises anomalies such as an eccentric central pair of microtubuli, abnormal radial spokes and nexin links, reduced number of inner dynein arms, and displacement of the outer doublet. peter 2013-04-07T09:49:56Z human_phenotype owl:Class HP:0033448 biolink:NamedThing Increased mid-arm muscle circumference Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 20:30:47+00:00 peter owl:Class HP:0032980 biolink:NamedThing Absent bronchoalveolar surfactant-protein C Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0009467 biolink:NamedThing Radial deviation of the 2nd finger Displacement of the 2nd finger towards the radial side. tmpxe7fu0cj_hp_relaxed.owl Radially deviated index finger UMLS:C1844709 doelkens 2009-01-15T09:40:58Z HP:0006053|HP:0004103 human_phenotype owl:Class HP:0033828 biolink:NamedThing Middle mediastinal mass A type of inferior mediastinal mass that is located withinthe pericardium. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:29:44+00:00 peter owl:Class HP:0031420 biolink:NamedThing Small yellow foveal lesion with surrounding gray zone A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity. tmpxe7fu0cj_hp_relaxed.owl Laser pointer-induced retinopathy|Light induced retinopathy|Small yellow foveal lesion with surrounding grey zone|Photic retinopathy|Solar retinopathy|Laser pointer-induced maculopathy|Solar retinitis 2017-09-12 02:33:25+00:00 peter owl:Class CHEBI:78115 biolink:NamedThing fatty acid anion 4:0 Any saturated fatty acid anion containing 4 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl fatty acid 4:0 -1 C4H7O2 87.09718 87.04460 [O-]C([*])=O chebi_ontology owl:Class HP:0020199 biolink:NamedThing Decreased circulating 18-hydroxycortisone level A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-09-05 14:21:53+00:00 owl:Class HP:0012885 biolink:NamedThing Fallopian tube duplication The presence of a supernumerary Fallopian tube. tmpxe7fu0cj_hp_relaxed.owl Accessory fallopian tube UMLS:C0266375|SNOMEDCT_US:48672005 Accessory fallopian tube is the congenital anomaly attached to the ampullary part of main tube. This accessory tube is common site of pyosalpinx, hydrosalpinx, cystic swelling and torsion. hecht 2014-06-11T08:05:41Z human_phenotype owl:Class HP:0008716 biolink:NamedThing Urethrovaginal fistula The presence of a fistula between the vagina and the urethra. tmpxe7fu0cj_hp_relaxed.owl Urethrovaginal fistulae UMLS:C0269133|SNOMEDCT_US:50477003 human_phenotype owl:Class HP:0032968 biolink:NamedThing Expiratory air trapping Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration. tmpxe7fu0cj_hp_relaxed.owl The extent of air trapping present on expiratory scans can be measured using a semiquantitative scoring system, which estimates the percentage of lung that appears abnormal on each scan. Such systems have the advantage of being simple, quick, and easy to perform at the time of image interpretation. Furthermore, in one study, a simple 5-point scoring system was found to be associated with better interobserver agreement than a more detailed scoring system. peter owl:Class HP:0005232 biolink:NamedThing Pancreatic dysplasia The presence of developmental dysplasia of the pancreas. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4019084 Dysplasia is defined in MPATH as a distortion or deficiency of the tissue or cellular architecture. human_phenotype owl:Class HP:0012467 biolink:NamedThing Acute respiratory acidosis Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35). tmpxe7fu0cj_hp_relaxed.owl UMLS:C0268047|SNOMEDCT_US:70644008 peter 2013-11-24T01:11:51Z human_phenotype owl:Class UBERON:0003413 biolink:NamedThing pectoral appendage bud mesenchyme Mesenchyme that is part of a pectoral appendage bud. tmpxe7fu0cj_hp_relaxed.owl forelimb bud mesenchyme|arm mesenchyme|wing mesenchyme|pectoral fin bud mesenchyme|upper limb bud mesenchyme|mesoderm pectoral fin bud EHDAA:1703|EHDAA2:0002135|ZFA:0000789|TAO:0000789|EMAPA:16408 UBERON:0005703 uberon owl:Class Mesoderm that is part of the pectoral fin bud.[TAO] CL:0002351 biolink:NamedThing progenitor cell of endocrine pancreas A progenitor cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1. tmpxe7fu0cj_hp_relaxed.owl pancreatic endocrine progenitor|pancreatic islet progenitor cell tmeehan 2010-09-21T04:41:06Z cell owl:Class HP:3000006 biolink:NamedThing Abnormality of medial pterygoid muscle An abnormality of a medial pterygoid muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073215 vasilevs 2015-02-26T03:43:06Z human_phenotype owl:Class GO:0090138 biolink:NamedThing regulation of actin cytoskeleton organization by cell-cell adhesion Any cell-cell adhesion process that modulates the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. tmpxe7fu0cj_hp_relaxed.owl regulation of actin cytoskeleton organisation by cell-cell adhesion tb 2009-12-08T02:05:00Z biological_process owl:Class HP:0031849 biolink:NamedThing Sleep-wake inversion A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 15:51:56+00:00 peter owl:Class HP:0100517 biolink:NamedThing Neoplasm of the urethra The presence of a neoplasm of the urethra. tmpxe7fu0cj_hp_relaxed.owl Neoplasia of the urethra SNOMEDCT_US:126883004|MSH:D014523|UMLS:C0041971|NCIT:C2974 doelkens 2010-12-20T10:36:17Z human_phenotype owl:Class HP:0010618 biolink:NamedThing Ovarian fibroma The presence of a fibroma of the ovary. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3041|MSH:C562391|UMLS:C0149951|SNOMEDCT_US:254865006 Ovarian fibromas belong to the sex cord-stromal tumour group of ovarian neoplasms. Ovarian fibromas are most frequent during middle age, and rare in children. Upon gross pathological inspection, ovary fibromas are firm and white or tan. sandra1 2009-10-28T06:13:11Z human_phenotype owl:Class GO:0140546 biolink:NamedThing defense response to symbiont Reactions triggered in response to the presence of a symbiont that act to protect the cell or organism from damage caused by that symbiont. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/20261 pg 2020-11-11T17:19:06Z biological_process owl:Class UBERON:0035483 biolink:NamedThing left suprarenal vein A vein that drains blood from the left adrenal gland into the left renal artery. tmpxe7fu0cj_hp_relaxed.owl FMA:14349|NCIT:C53138 uberon owl:Class HP:0012173 biolink:NamedThing Orthostatic tachycardia An increase in heart rate with standing of 30 beats per minute or more. tmpxe7fu0cj_hp_relaxed.owl Postural tachycardia UMLS:C4021099 peter 2013-02-23T09:42:20Z human_phenotype owl:Class UBERON:0005001 biolink:NamedThing mucosa of common hepatic duct A mucosa that is part of a common hepatic duct [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl organ mucosa of hepatic duct|organ mucosa of common hepatic duct|hepatic duct mucosa of organ|common hepatic ductal mucosa|common hepatic duct mucosa|hepatic duct mucous membrane|common hepatic duct organ mucosa|mucous membrane of hepatic duct|hepatic duct organ mucosa|mucosa of hepatic duct|common hepatic duct mucosa of organ|hepatic duct mucosa|mucosa of organ of hepatic duct|mucosa of organ of common hepatic duct|common hepatic duct mucous membrane|mucous membrane of common hepatic duct FMA:14691 uberon owl:Class HP:0006955 biolink:NamedThing Olivopontocerebellar hypoplasia Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859341 HP:0007168 human_phenotype owl:Class HP:0034011 biolink:NamedThing Reduced progressive sperm motility A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increaed proportion of sperm that move in tight circles or in some other non-linear fashion. tmpxe7fu0cj_hp_relaxed.owl Non-progressive sperm motility 2021-09-04 11:47:38+00:00 peter owl:Class HP:0002355 biolink:NamedThing Difficulty walking Reduced ability to walk (ambulate). tmpxe7fu0cj_hp_relaxed.owl Walking disability|Difficulty walking|Difficulty in walking MSH:D051346|SNOMEDCT_US:228158008|UMLS:C0311394 HP:0007101|HP:0009030 human_phenotype owl:Class HP:0011367 biolink:NamedThing Yellow nails Yellowish discoloration of the nails. tmpxe7fu0cj_hp_relaxed.owl Yellow nails UMLS:C1768507|SNOMEDCT_US:45342007 peter 2012-03-03T12:08:12Z human_phenotype owl:Class HP:0009092 biolink:NamedThing Progressive alveolar ridge hypertropy tmpxe7fu0cj_hp_relaxed.owl Increasing size of gum ridge|Increasing overgrowth of gum ridge|Progressive hypertrophy of alveolar process of jaw UMLS:C1854934|UMLS:C4280407 human_phenotype owl:Class HP:0005885 biolink:NamedThing Absent ossification of cervical vertebral bodies A lack of bone mineralization of one or more body of cervical vertebra. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025115 human_phenotype owl:Class CHEBI:83955 biolink:NamedThing 2-saturated fatty acid anion A fatty acid anion obtained by deprotonation of the carboxy group of any 2-saturated fatty acid. tmpxe7fu0cj_hp_relaxed.owl a 1,2-saturated fatty acid|1,2-saturated fatty acid anion -1 C2H2O2R 58.036 58.00548 [O-]C(=O)C[*] chebi_ontology owl:Class HP:0020211 biolink:NamedThing Proprioceptive-induced seizure A seizure precipitated by movement or a change in posture. tmpxe7fu0cj_hp_relaxed.owl robinp 2020-02-24 13:46:03+00:00 owl:Class HP:0003889 biolink:NamedThing Abnormality of the deltoid tuberosities tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025527 human_phenotype owl:Class GO:1903849 biolink:NamedThing positive regulation of aorta morphogenesis Any process that activates or increases the frequency, rate or extent of aorta morphogenesis. tmpxe7fu0cj_hp_relaxed.owl upregulation of aorta morphogenesis|up regulation of aorta morphogenesis|up-regulation of aorta morphogenesis|activation of aorta morphogenesis rph 2015-01-23T14:01:09Z biological_process owl:Class HP:0031146 biolink:NamedThing Impaired oral bolus formation An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed. tmpxe7fu0cj_hp_relaxed.owl 2017-06-11 20:31:50+00:00 peter owl:Class HP:0020126 biolink:NamedThing Prostate mass A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. tmpxe7fu0cj_hp_relaxed.owl The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. robinp 2019-07-03 17:10:08+00:00 owl:Class NCBITaxon:33317 biolink:NamedThing Protostomia tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0025405 biolink:NamedThing Visual fixation instability A deficit in the ability to fixate eye movements in order to stabilize images on the retina tmpxe7fu0cj_hp_relaxed.owl Instability of ocular fixation 2017-04-22 14:31:07+00:00 Eye movements are made several times a second to place and hold images of objects of interest onto the central part of the retina, the fovea, where visual acuity is best. These eye movements fall into two main classes. Saccades are fast and brief movements, reaching peak speeds of hundreds of degrees per second and lasting only tens of milliseconds that quickly shift new visual images to the fovea. Smooth pursuit eye movements are slow and continuous, steadily rotating the eyes to track any motion of the visual target, minimizing the retinal slip and the resulting blur that might otherwise reduce spatial acuity. Between these movements, the eyes are held relatively still. These periods of steady fixation are the result of a dynamic process that appears to be actively controlled by many of the same brain structures involved in the generation of goal-directed eye movements. HPO:probinson owl:Class HP:0010043 biolink:NamedThing Aplasia of the 4th metacarpal Absence of the fourth long bone of the hand. tmpxe7fu0cj_hp_relaxed.owl Absent 4th long bone of hand UMLS:C4024086 doelkens 2009-05-27T04:37:00Z human_phenotype owl:Class HP:0004779 biolink:NamedThing Brittle scalp hair Fragile, easily breakable scalp hair. tmpxe7fu0cj_hp_relaxed.owl Brittle scalp hair UMLS:C4025296 HP:0004776 human_phenotype owl:Class PATO:0002359 biolink:NamedThing broad A quality inhering in a bearer by virtue of the bearer's width being notably higher than its length. tmpxe7fu0cj_hp_relaxed.owl 2012-03-13T06:04:00Z quality owl:Class CHEBI:51447 biolink:NamedThing organic univalent group tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class UBERON:0004214 biolink:NamedThing upper leg nerve A nerve that is part of a hindlimb stylopod [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lower extremity stylopod nerve|thigh RELATED|hindlimb stylopod nerve|hind limb stylopod nerve MA:0000685|EMAPA:37344 uberon owl:Class HP:0004290 biolink:NamedThing Sclerosis of hand bones with transverse striations tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025366 human_phenotype owl:Class PATO:0001300 biolink:NamedThing optical quality An EM radiation quality in which the EM radiation is within the fiat range of the spectrum visible deemed to be light. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class UBERON:0001623 biolink:NamedThing dorsal nasal artery The dorsal nasal artery (nasal artery) is an artery of the head. It is one of the two terminal branches of the ophthalmic artery. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl arteria dorsalis nasi|dorsal nasal branch of ophthalmic artery|external nasal artery MA:0001945|EMAPA:35292|NCIT:C52983|UMLS:C0226194|FMA:50000 http://upload.wikimedia.org/wikipedia/commons/3/35/Gray515.png uberon owl:Class HP:0007616 biolink:NamedThing Nevus flammeus nuchae Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. tmpxe7fu0cj_hp_relaxed.owl Angel's kiss|Salmon patch|Port-wine stain on neck|Stork bite UMLS:C4024829|UMLS:C0860468|UMLS:C4280438 The salmon patch is the most common capillary malformation, occurring in up to 50% of all neonates. It is a pinkish macule that typically affects the back of the neck (stork bite) or the glabella (angel's kiss), although it can affect the eyelids, the nose, the upper lip, and the sacral area. human_phenotype owl:Class GO:0032941 biolink:NamedThing secretion by tissue The controlled release of a substance by a tissue. tmpxe7fu0cj_hp_relaxed.owl tissue secretion|expulsion of gland contents biological_process owl:Class HP:0033042 biolink:NamedThing Abnormal chorion morphology Any structural anomaly of the fetal part of the placenta, which is known as the chorion. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class PATO:0001477 biolink:NamedThing retracted A positional quality inhering in a bearer by virtue of the bearer's being drawn in or pulled back from any given point. tmpxe7fu0cj_hp_relaxed.owl moved|retruded quality owl:Class GO:0051349 biolink:NamedThing positive regulation of lyase activity Any process that activates or increases the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. tmpxe7fu0cj_hp_relaxed.owl stimulation of lyase activity|activation of lyase activity|up regulation of lyase activity|lyase activator|up-regulation of lyase activity|upregulation of lyase activity biological_process owl:Class HP:0100350 biolink:NamedThing Contracture of the proximal interphalangeal joint of the 4th toe The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl Camptodactyly of the 4th toe|Camptodactyly of the fourth toe|Contracture of the innermost hinge joint of the 4th toe UMLS:C4021017 human_phenotype owl:Class HP:0030118 biolink:NamedThing Reduced muscle fiber emerin Immunohistochemistry reveals reduced emerin protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Reduced muscle fibre emerin UMLS:C4022627 owl:Class HP:0025663 biolink:NamedThing Reduced fetal femur/foot length ratio This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0030781 biolink:NamedThing Increased circulating free fatty acid level A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280773 owl:Class HP:0011485 biolink:NamedThing Corneolenticular adhesion Developmental abnormality in which the lens and cornea are not separated. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023334 peter 2012-04-02T08:52:43Z human_phenotype owl:Class HP:0008945 biolink:NamedThing Loss of ability to walk in early childhood tmpxe7fu0cj_hp_relaxed.owl UMLS:C1835993 human_phenotype owl:Class GO:0001676 biolink:NamedThing long-chain fatty acid metabolic process The chemical reactions and pathways involving long-chain fatty acids, A long-chain fatty acid is a fatty acid with a chain length between C13 and C22. tmpxe7fu0cj_hp_relaxed.owl long-chain fatty acid metabolism biological_process owl:Class HP:0030911 biolink:NamedThing Bifid clitoris Two clitorides located side by side. tmpxe7fu0cj_hp_relaxed.owl The word bifid indicates the presence of a split clitoris, as opposed to a supernumerary clitoris, which could be described as Duplicated clitoris. A bifid clitoris is almost invariably accompanied by Epispadias, which should be coded separately. owl:Class HP:0100698 biolink:NamedThing Subcutaneous neurofibromas The presence of Neurofibromas in the subcutis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1827970|SNOMEDCT_US:425327002 doelkens 2011-03-29T12:03:47Z human_phenotype owl:Class HP:0034012 biolink:NamedThing Palmoplantar hypohidrosis Decreased sweating on the palms and soles. tmpxe7fu0cj_hp_relaxed.owl 2021-09-23 11:37:29+00:00 peter owl:Class HP:0007266 biolink:NamedThing Cerebral dysmyelination Defective structure and function of myelin sheaths of the white matter of the brain. tmpxe7fu0cj_hp_relaxed.owl Areas of dysmyelination on MRI|White matter dysmyelination/demyelination|Dysmyelination of the brain UMLS:C1854885|UMLS:C4020810 HP:0007134|HP:0007217 owl:Class HP:0025166 biolink:NamedThing Thickened elastic fibers in the dermis An increase of the diameter of elastic fibers in the dermis. tmpxe7fu0cj_hp_relaxed.owl Thickened elastic fibres in the dermis 2016-12-04 13:54:31+00:00 HPO:probinson owl:Class UBERON:0003583 biolink:NamedThing larynx connective tissue A portion of connective tissue that is part of a larynx [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl laryngeal connective tissue|larynx portion of connective tissue|textus connectivus of larynx|connective tissue of larynx|larynx textus connectivus|portion of connective tissue of larynx EMAPA:35471|NCIT:C49245|MA:0001754|UMLS:C1708651 uberon owl:Class HP:0030275 biolink:NamedThing Ectopic scrotum Scrotum in a position other than the usual position inferior to the base of the penis. tmpxe7fu0cj_hp_relaxed.owl Abnormal scrotum position UMLS:C4022542 This term is distinguished from Accessory scrotum, as there is no significant scrotal tissue in the normal position in ectopic scrotum. This definition excludes the finding of Penoscrotal transposition or Overriding scrotum. Usually the scrotum is split and there is unilateral ectopia. The ectopic scrotum is typically located supra-inguinally, but may be located elsewhere such as on the upper thigh. A testis is commonly present in the ectopic scrotum. Ectopic scrotum can be accompanied by Chordee or Bifid penis, which should be coded separately, and by renal and non-urogenital malformations. owl:Class HP:0006092 biolink:NamedThing Malaligned carpal bone Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna). tmpxe7fu0cj_hp_relaxed.owl Incorrect alignment of wrist bone UMLS:C1856742 human_phenotype owl:Class HP:0032522 biolink:NamedThing Ameliorated by immunosuppresion Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication. tmpxe7fu0cj_hp_relaxed.owl Immunosupressive therapy improves condition 2019-05-26 11:24:41+00:00 peter owl:Class HP:0001935 biolink:NamedThing Microcytic anemia A kind of anemia in which the volume of the red blood cells is reduced. tmpxe7fu0cj_hp_relaxed.owl Microcytic anaemia MSH:C562385|SNOMEDCT_US:234349007|UMLS:C0085576 In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults). human_phenotype owl:Class HP:0030110 biolink:NamedThing Absent muscle fiber delta sarcoglycan Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Absent muscle fibre delta sarcoglycan UMLS:C4022635 owl:Class HP:0011454 biolink:NamedThing Abnormality of the malleus An abnormality of the malleus, an ossicle in the middle ear. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023349 peter 2012-03-19T09:40:02Z human_phenotype owl:Class HP:0006527 biolink:NamedThing Lymphocytic interstitial pneumonia Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa. tmpxe7fu0cj_hp_relaxed.owl Lymphoid interstitial pneumonia|Lymphocytic interstitial pneumonitis|Lymphoid interstitial pneumonitis SNOMEDCT_US:44274007|MSH:C562489|UMLS:C0264511 Lymphocytic interstitial pneumonitis is assumed to be a pathological immunologic response to different triggers and are particularly associated with autoimmune and infectious diseases as well as immunodeficiency. Associated clinical manifestations often include fever, cough, and shortness of breath. owl:Class HP:0003158 biolink:NamedThing Hyposthenuria An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. tmpxe7fu0cj_hp_relaxed.owl Reduced urinary osmolality UMLS:C0232831|SNOMEDCT_US:76023003 Hyposthenuria may occur with impaired renal concentrating power or upon abnormally low hormonal stimulation, as in diabetes insipidus. owl:Class CHEBI:22331 biolink:NamedThing alkylamines Any amine formally derived from ammonia by replacing one, two or three hydrogen atoms by alkyl groups. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0031909 biolink:NamedThing Unicornuate uterus A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn. tmpxe7fu0cj_hp_relaxed.owl 2018-06-23 13:42:08+00:00 A unicornuate uterus with a rudimentary horn is an anomaly caused by defective fusion of one of the paired Mullerian ducts. The incidence of rudimentary-horn pregnancy is estimated to be one in 76,000 pregnancies. Life-threateningly heavy bleeding and abortion are the anticipated outcomes of rudimentary horn pregnancies. According to the literature, the newborn survival rate is between 0-13 percent in pregnancies in the rudimentary horn, with only one third of such gestations reaching term or beyond. Slightly more than half of the pregnancies ended with a rupture of the pregnant uterine horn. peter owl:Class HP:0005820 biolink:NamedThing Superior rib anomalies tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025129 human_phenotype owl:Class HP:0033926 biolink:NamedThing Renal arteriole intimal/medial multilamellation Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney. tmpxe7fu0cj_hp_relaxed.owl Multilamellation (onion skinning) within renal arteriole intima/media|Renal arteriole intimal/medial onion skinning|Renal arteriole intima/media multilamellation 2021-06-24 01:08:40+00:00 peter owl:Class HP:0007193 biolink:NamedThing Bilateral tonic-clonic seizure on awakening Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day). tmpxe7fu0cj_hp_relaxed.owl Morning generalized tonic-clonic seizures|Morning generalised tonic-clonic seizures|Generalized tonic-clonic seizures on awakening|Generalised tonic-clonic seizures on awakening UMLS:C1847165 HP:0007008 owl:Class HP:0031179 biolink:NamedThing Nuchal rigidity Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated. tmpxe7fu0cj_hp_relaxed.owl Meningism 2017-06-18 20:41:44+00:00 Meningism is resistance to neck flexion due to painful spasm of extensor muscles resulting from meningeal irritation. The diagnosis of meningism is made in someone whose symptoms simulate meningitis, but in which no actual inflammation of these membranes is present. Nuchal rigidity can thus be observed in individuals with meningitis or with meningism. peter owl:Class HP:0008468 biolink:NamedThing Abnormal sacral segmentation An abnormality related to a defect of vertebral separation of sacral vertebrae during development. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968942 human_phenotype owl:Class HP:0033058 biolink:NamedThing Decreased serum complement C7 A reduced level of the complement component C7 in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl The complement component C7 is one of the five plasma proteins that interact sequentially to form the lytic membrane attack complex. peter owl:Class HP:0033041 biolink:NamedThing Cytokine storm Excessive or uncontrolled release of proinflammatory cytokines. tmpxe7fu0cj_hp_relaxed.owl Hypercytokinemia Cytokines are a diverse group of small proteins that are secreted by cells for the purpose of intercellular signaling and communication. Specific cytokines have autocrine, paracrine, and/or endocrine activity and, through receptor binding, can elicit a variety of responses, depending upon the cytokine and the target cell. Among the many functions of cytokines are the control of cell proliferation and differentiation and the regulation of angiogenesis and immune and inflammatory responses. Inflammation associated with a cytokine storm begins at a local site and spreads throughout the body via the systemic circulation. Rubor (redness), tumor (swelling or edema), calor (heat), dolor (pain), and functio laesa (loss of function) are the hallmarks of acute inflammation. While the general concept of an excessive or uncontrolled release of proinflammatory cytokines is well known, a precise definition of what constitutes a cytokine storm is lacking. The first use of cytokine storm appears to be in an article published in 1993 on graft-versus-host disease. Cytokine storm has subsequently been described in patients infected by cytomegalovirus, Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis, group A streptococcus, influenza virus, variola virus, severe acute respiratory syndrome coronavirus (SARS-CoV),avian H5N1 influenza virus, and SARS-CoV-2 peter owl:Class HP:0033491 biolink:NamedThing Global mesangial sclerosis A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 13:02:15+00:00 Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). peter owl:Class UBERON:0014610 biolink:NamedThing thoracic spinal cord ventral horn A ventral horn of spinal cord that is part of a thoracic spinal cord. tmpxe7fu0cj_hp_relaxed.owl thoracic spinal cord anterior horn|thoracic spinal cord ventral horn UMLS:C0228632|UMLS:C1288552|BIRNLEX:1410|SCTID:367876000 uberon owl:Class HP:0025519 biolink:NamedThing Multiple biliary hamartomas Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver. tmpxe7fu0cj_hp_relaxed.owl Multiple bile duct hamartomas|Biliary hamartoma|Von Meyenburg complexes 2017-05-17 12:34:24+00:00 Multiple biliary hamartomas are part of the wider spectrum of ductal plate malformation where there is congenital malformation of the biliary duct. Multiple biliary hamartomas can be diagnosed using magnetic resonance imaging which shows multiple hyper-intense cystic nodules not communicating with the biliary tree. The diagnosis can be confirmed on liver histology. Multiple biliary hamartomas are usually an incidental finding without symptoms. There have been rare associations with development of cholangiocarcinoma. HPO:probinson owl:Class PATO:0000918 biolink:NamedThing volume A 3-D extent quality inhering in a bearer by virtue of the bearer's amount of 3-dimensional space it occupies. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class NBO:0000568 biolink:NamedThing kinesthetic behavior phenotype "Observable characteristic of behavior related to the movement of the body's muscles, tendons, and joints." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T08:31:34Z George Gkoutos behavior_ontology owl:Class UBERON:0035117 biolink:NamedThing diastema between lower central incisors A space or gap between the left and right central incisors on the lower jaw. tmpxe7fu0cj_hp_relaxed.owl interdental space, lower central incisors|midline mandibular diastema|interdental space between mandibular central incisors uberon owl:Class UBERON:0009887 biolink:NamedThing interlobar vein The interlobar veins are veins of the renal circulation which drain the renal lobes. tmpxe7fu0cj_hp_relaxed.owl venae interlobares renis|interlobar vein of kidney|interlobar veins of kidney|set of interlobar veins of kidney FMA:71631 Kidney:PioM.png uberon owl:Class FMA only has the set term HP:0012302 biolink:NamedThing Herpes simplex encephalitis Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction. tmpxe7fu0cj_hp_relaxed.owl Herpes encephalitis SNOMEDCT_US:428638009|UMLS:C0276226|MSH:D020803 Although infection with HSV is very common in the population, only a miniscule proportion of infected persons develop encephalitis, so that an occurrence of HSV encephalitis is interpreted as a sign of increased susceptibility to HSV. Herpes encephalitis may occur in immunocompromised patients, but HSV-1 is consistently the single most common cause of sporadic encephalitis worldwide. peter 2013-04-14T02:43:10Z HP:0020098 owl:Class HP:0033993 biolink:NamedThing Viral encephalitis An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction. tmpxe7fu0cj_hp_relaxed.owl 2021-08-21 11:43:59+00:00 Severe viral infections including viral encephalitis may occur in individuals with underlying mmunodeficiencies. peter owl:Class HP:0410173 biolink:NamedThing Increased circulating troponin I concentration An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. tmpxe7fu0cj_hp_relaxed.owl Increased troponin I level in blood 2018-05-18 20:20:47+00:00 owl:Class HP:0002292 biolink:NamedThing Frontal balding Absence of hair in the anterior midline and/or parietal areas. tmpxe7fu0cj_hp_relaxed.owl Male pattern baldness|Frontal balding SNOMEDCT_US:87872006|UMLS:C4083212|MSH:D000505|UMLS:C1864584 human_phenotype owl:Class HP:0011841 biolink:NamedThing Ventricular flutter A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0152173|SNOMEDCT_US:111288001|MSH:D054141 If untreated, ventricular flutter typically progresses to ventricular fibrillation. peter 2012-05-06T06:46:54Z human_phenotype owl:Class HP:0500046 biolink:NamedThing Seborrhoeic blepharitis Inflamation of the eyelid due to overactivity of the sebaceous gland. tmpxe7fu0cj_hp_relaxed.owl 2018-02-05 17:03:04+00:00 There is some suggestion that yeast bacterial strain called Malassezia furfur may cause seborrhoeic dermatitis. This yeast bacterial strain thrives in the oil of human skin especially in adults. ORCID:0000-0001-7941-2961 owl:Class UBERON:0002150 biolink:NamedThing superior cerebellar peduncle A composite structure of the brain stem, which in NeuroNames is subdivided into the superior cerebellar peduncle of pons, the decussation of superior cerebellar peduncle and the superior cerebellar peduncle of midbrain (MM). tmpxe7fu0cj_hp_relaxed.owl superior cerebellar peduncle (brachium conjuctivum)|superior cerebellar peduncle (Galen, Stilling)|pedunculus cerebellaris rostralis|scp|pedunculus cerebellaris superior|superior cerebellar peduncle (brachium conjunctivum)|crus cerebello-cerebrale|tractus cerebello-tegmentalis mesencephali|brachium conjunctivum|pedunculus cerebellaris cranialis|superior peduncle|tractus cerebello-rubralis|superior cerebelar peduncles BIRNLEX:1711|BM:BC|BAMS:scp|MBA:326|UMLS:C0152391|DMBA:17793|MA:0002746|BAMS:5|HBA:9297|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1736|DHBA:12354 http://upload.wikimedia.org/wikipedia/commons/9/97/Gray704.png we follow NIF in dividing this into 3 parts. This allows for consistency with ABA uberon owl:Class we make the TAO class disjoint for now as it's not clear if this is the analagous structure PATO:0015001 biolink:NamedThing absence due to degeneration Absence due to a degenerative process. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class UBERON:0001120 biolink:NamedThing left lobe of thyroid gland A lobe of thyroid gland that is in the left side of a thyroid gland. tmpxe7fu0cj_hp_relaxed.owl lobus sinister (glandula thyroidea)|left thyroid lobe|thyroid gland left lobe MA:0000728|EHDAA2:0000965|EMAPA:18197|UMLS:C0229582|NCIT:C32973|FMA:13369|VHOG:0000734 uberon owl:Class Thus, a thyroid capable of forming iodotyrosines and iodothyronines is present in all vertebrates. (...) Certain morphologic changes occur after the biochemical evolution of the thyroid has ceased. In the adult lamprey and in most bony fishes, the gland is not encapsulated. (...) In cartilaginous fish, the thyroid is encapsulated. In the higher vertebrate forms, the thyroid is a one- or two-lobed encapsulated structure.[well established][VHOG] https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern HP:0006749 biolink:NamedThing Malignant gastrointestinal tract tumors tmpxe7fu0cj_hp_relaxed.owl Malignant GI tract tumours|Malignant gastrointestinal tract tumours|Malignant GI tract tumors SNOMEDCT_US:428905002|UMLS:C0685938|MSH:D005770 human_phenotype owl:Class HP:0006780 biolink:NamedThing Parathyroid carcinoma A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism. tmpxe7fu0cj_hp_relaxed.owl Parathyroid Cancer SNOMEDCT_US:363481002|SNOMEDCT_US:255037004|NCIT:C2916|MSH:D010282|UMLS:C0687150 human_phenotype owl:Class HP:0012764 biolink:NamedThing Orthopnea A sensation of breathlessness in the recumbent position, relieved by sitting or standing. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0085619|SNOMEDCT_US:62744007 hecht 2014-04-06T11:03:04Z human_phenotype owl:Class HP:0005318 biolink:NamedThing Cerebral vasculitis Inflammation of the blood vessels within the brain. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:427020007|MSH:D020293|UMLS:C0238051 human_phenotype owl:Class HP:0011497 biolink:NamedThing Iris neovascularization New growth of vessels on the surface of the iris. tmpxe7fu0cj_hp_relaxed.owl Neovascularization of the iris|New blood vessel formation in iris UMLS:C0154916|SNOMEDCT_US:51995000 peter 2012-04-03T07:32:43Z human_phenotype owl:Class HP:0003799 biolink:NamedThing Marked delay in bone age tmpxe7fu0cj_hp_relaxed.owl Markedly retarded bone age|Marked retardation in skeletal maturation|Marked delay in bone age UMLS:C1868549 HP:0005742|HP:0005843 human_phenotype owl:Class HP:0003390 biolink:NamedThing Sensory axonal neuropathy An axonal neuropathy of peripheral sensory nerves. tmpxe7fu0cj_hp_relaxed.owl Peripheral sensory axonal neuropathy|Axonal sensory neuropathy UMLS:C1970883|UMLS:C1842587 HP:0006883|HP:0007345|HP:0007248 owl:Class HP:0031089 biolink:NamedThing Palatal edema Swelling related to fluid accumulation within the palate. tmpxe7fu0cj_hp_relaxed.owl Palatal oedema|Palate edema|Palate oedema 2017-05-29 00:54:26+00:00 peter owl:Class HP:0009281 biolink:NamedThing Aplasia of the 4th finger Absent 4th finger. tmpxe7fu0cj_hp_relaxed.owl Absent ring finger UMLS:C4024472 doelkens 2009-01-07T04:28:08Z human_phenotype owl:Class HP:0500066 biolink:NamedThing Latent myopia The difference between total and manifest myopia. tmpxe7fu0cj_hp_relaxed.owl 2018-02-26 17:14:19+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0005329 biolink:NamedThing Fixed facial expression tmpxe7fu0cj_hp_relaxed.owl Fixed facial expression|Unchanging facial expression UMLS:C1855353 human_phenotype owl:Class HP:0009668 biolink:NamedThing Fragmentation of the epiphysis of the proximal phalanx of the thumb Epiphysis of the proximal phalanx of the thumb having multiple bony fragments. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of thumb innermost long bone UMLS:C4024249 doelkens 2009-01-30T09:17:13Z human_phenotype owl:Class UBERON:0006565 biolink:NamedThing female urethral meatus A urethral meatus that is part of a female urethra[Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl external urethral orifice (female)|urethral meatus of clitoral urethra|urethral opening of clitoral urethra|external orifice of female urethra|female urethral meatus|distal urethral opening of female|ostium urethrae externum (urethra feminina) EMAPA:36453|MA:0002639|FMA:85266 uberon owl:Class The external urethral orifice (urinary meatus) is the external opening of the urethra, from which urine is ejected during urination. It is placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina; it usually assumes the form of a short, sagittal cleft with slightly raised margins. To its left and right are the openings of the Skene's ducts. CHEBI:77974 biolink:NamedThing food packaging gas A food additive that is a (generally inert) gas which is used to envelop foodstuffs during packing and so protect them from unwanted chemical reactions such as food spoilage or oxidation during subsequent transport and storage. The term includes propellant gases, used to expel foods from a container. tmpxe7fu0cj_hp_relaxed.owl food packaging gases Wikipedia:Packaging_gas chebi_ontology owl:Class HP:0032648 biolink:NamedThing Tubularization of Bowman capsule The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033986 biolink:NamedThing Tortuous lymphatic vessels The presence of an increased number of twists and turns of lymphatic vessels. tmpxe7fu0cj_hp_relaxed.owl Tortuous lymphatics 2021-07-15 11:55:44+00:00 This feature can be ascertained by near-infrared fluorescence lymphatic imaging. peter owl:Class HP:0030236 biolink:NamedThing Abnormality of muscle size Abnormalities of the overall muscle bulk based on clinical observation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of muscle size UMLS:C4022563 owl:Class HP:0011653 biolink:NamedThing Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. tmpxe7fu0cj_hp_relaxed.owl DORV with non-committed VSD and pulmonary stenosis UMLS:C4023246 peter 2012-04-09T10:06:15Z human_phenotype owl:Class HP:0001782 biolink:NamedThing Bulbous tips of toes An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025747 human_phenotype owl:Class HP:0045002 biolink:NamedThing Absent ossification of the trapezium tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022408 HPO:skoehler owl:Class UBERON:0015016 biolink:NamedThing stapes endochondral element A stapes bone or its cartilage or pre-cartilage precursor. tmpxe7fu0cj_hp_relaxed.owl stapes element|stapes skeletal element uberon owl:Class HP:0032646 biolink:NamedThing Renal interstitial xanthogranulomatous inflammation Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class CHEBI:24961 biolink:NamedThing ketoaldonate tmpxe7fu0cj_hp_relaxed.owl ketoaldonate|ketoaldonates chebi_ontology owl:Class HP:0040161 biolink:NamedThing Localized osteoporosis tmpxe7fu0cj_hp_relaxed.owl Localised osteoporosis UMLS:C1398367 owl:Class HP:0000149 biolink:NamedThing Ovarian gonadoblastoma The presence of a gonadoblastoma of the ovary. tmpxe7fu0cj_hp_relaxed.owl Gonadoblastoma, female UMLS:C1518716|NCIT:C3754|SNOMEDCT_US:716594002 Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or disorder of sex development. human_phenotype owl:Class HP:0030938 biolink:NamedThing Enteric intraneuronal nuclear inclusion bodies Aggregates of stainable substances (proteins) in the nuclei of enteric neurons. tmpxe7fu0cj_hp_relaxed.owl 2016-12-05 13:25:36+00:00 robinp owl:Class HP:0025029 biolink:NamedThing Abnormality of enteric neuron morphology tmpxe7fu0cj_hp_relaxed.owl 2016-08-27 11:22:10+00:00 HPO:probinson owl:Class HP:0031159 biolink:NamedThing Thinning of Descemet membrane A reduction in the thickness of Descemet's membrane. tmpxe7fu0cj_hp_relaxed.owl 2017-06-18 13:55:59+00:00 peter owl:Class HP:0031185 biolink:NamedThing Increased circulating NT-proBNP concentration An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP). tmpxe7fu0cj_hp_relaxed.owl Increased NT-proBNP level 2017-06-21 10:30:21+00:00 peter owl:Class HP:0031138 biolink:NamedThing Abnormal B-type natriuretic peptide level A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 18:39:37+00:00 Increased plasma levels of circulating natriuretic peptides (NP) have been described in patients with congestive heart failure and are directly proportional to the severity of congestive heart failure as classified by the New York Heart Association criteria. peter owl:Class HP:0009325 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 3rd finger Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger. tmpxe7fu0cj_hp_relaxed.owl Fragmentation of end part of the middle bone of the middle finger UMLS:C4024440 doelkens 2009-01-12T11:15:44Z human_phenotype owl:Class PATO:0040042 biolink:NamedThing decreased proportionality to A proportionality quality inhering in a bearer by virtue of the bearer's decreased magnitude in respect to a related entity. tmpxe7fu0cj_hp_relaxed.owl decreased quotient|decreased proportion|decreased proportionality|decreased ratio Example: decreased proportion of CD4 T cells relative to total T cells. quality owl:Class HP:0003221 biolink:NamedThing Chromosomal breakage induced by crosslinking agents Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. tmpxe7fu0cj_hp_relaxed.owl Chromosomal breakage induced by diepoxybutane|Chromosomal breakage induced by mitomycin C UMLS:C4021737 Increased tendency to chromosomal breakage induced by crosslinking agents is typical for the various forms of Fanconi anemia. human_phenotype owl:Class HP:0006440 biolink:NamedThing Increased density of long bone diaphyses tmpxe7fu0cj_hp_relaxed.owl Increased density of shaft of long bone UMLS:C1844516 human_phenotype owl:Class HP:0011656 biolink:NamedThing Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. tmpxe7fu0cj_hp_relaxed.owl DORV with subaortic VSD without pulmonary stenosis UMLS:C4023243 peter 2012-04-09T10:07:00Z human_phenotype owl:Class HP:0041046 biolink:NamedThing Increased neutrophil ribosomes An increased number of ribosomes detected in neutrophils. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0011222 biolink:NamedThing Depressed glabella Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of glabella|Concave glabella|Flat glabella|Deficiency of glabella|Flat area between the eyebrows|Deficient area between the eyebrows UMLS:C4023455 The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. peter 2011-12-07T10:03:30Z human_phenotype owl:Class UBERON:8440004 biolink:NamedThing laminar subdivision of the cortex One or a subset of adjacent layers of the neocortex. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class MPATH:1000 biolink:NamedThing pathological phenotype observation Phenotypic observation of the presence or absence of a pathological entity. tmpxe7fu0cj_hp_relaxed.owl Luke Slater mouse_pathology.ontology owl:Class CHEBI:83982 biolink:NamedThing L-glutamic acid derivative A proteinogenic amino acid derivative resulting from reaction of L-glutamic acid at the amino group or either of the carboxy groups, or from the replacement of any hydrogen of L-glutamic acid by a heteroatom. tmpxe7fu0cj_hp_relaxed.owl L-glutamic acid derivatives chebi_ontology owl:Class HP:0008039 biolink:NamedThing Subepithelial corneal opacities tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857307 human_phenotype owl:Class HP:0030889 biolink:NamedThing Congenital shortened small intestine Substantially shortened length of the small intestine as a result of a developmental defect. tmpxe7fu0cj_hp_relaxed.owl Short bowel The mean length of the small intestine in full-term newborns is approximately 240 cm, increasing to 430 cm by 15 years of age. In adults, the average small bowel length is reported to be 600 cm, with a range of 260 cm to 800 cm. Short bowel syndrome (SBS) is a clinical disorder that is characterized by diarrhea and malabsorption following the functional or anatomical loss of enough small bowel length to markedly compromise intestinal absorptive capacity. SBS may result from from surgical resection, congenital defect, or disease-associated loss of absorption. This term describes congenital shortening of the small intestine that is one phenotypic feature of SBS. owl:Class UBERON:0003494 biolink:NamedThing respiratory system venule A venule that is part of a respiratory system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl venule of respiratory system|apparatus respiratorius venule|venule of apparatus respiratorius EMAPA:37587|MA:0001813 uberon owl:Class HP:0000155 biolink:NamedThing Oral ulcer Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. tmpxe7fu0cj_hp_relaxed.owl Oral mucosal ulceration|Mouth ulcer|Mouth sore SNOMEDCT_US:26284000|MSH:D019226|UMLS:C0149745 human_phenotype owl:Class HP:0030398 biolink:NamedThing Abnormal platelet ATP dense granule secretion Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072931 owl:Class HP:0030397 biolink:NamedThing Abnormal platelet dense granule secretion Abnormal release of dense granules from platelets. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072930 Dense granules contain adenosine diphosphate, adenosine triphosphate, ionized calcium, histamine and serotonin. owl:Class HP:0031237 biolink:NamedThing Internally nucleated skeletal muscle fibers An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. tmpxe7fu0cj_hp_relaxed.owl Internally nucleated skeletal muscle fibres 2017-07-02 20:11:21+00:00 A normal muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. peter owl:Class HP:0040100 biolink:NamedThing Abnormality of the vestibular window tmpxe7fu0cj_hp_relaxed.owl Abnormality of the oval window UMLS:C4021035 HPO:skoehler owl:Class HP:0007020 biolink:NamedThing Progressive spastic paraplegia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855483 HP:0007255|HP:0006875 human_phenotype owl:Class HP:0004713 biolink:NamedThing Reversible renal failure Acute renal failure with resolution of manifestations. tmpxe7fu0cj_hp_relaxed.owl Reversible renal failure|Reversible kidney failure UMLS:C1843276 human_phenotype owl:Class HP:0100727 biolink:NamedThing Histiocytosis An excessive number of histiocytes (tissue macrophages). tmpxe7fu0cj_hp_relaxed.owl MSH:D015614|SNOMEDCT_US:60657004|UMLS:C0019618|SNOMEDCT_US:65396000 doelkens 2011-06-06T04:43:05Z human_phenotype owl:Class CHEBI:37246 biolink:NamedThing elemental sodium tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0410248 biolink:NamedThing Increased anti-house dust mite IgE antibody level Increased level of IgE antibody against house dust mites, a common allergen. tmpxe7fu0cj_hp_relaxed.owl Increased level of anti-house dust IgE antibody|Increased anti-house dust IgE antibody level 2018-10-12 20:56:01+00:00 owl:Class HP:0033037 biolink:NamedThing Migratory arthritis tmpxe7fu0cj_hp_relaxed.owl Migratory polyarthritis A form of arthritis characterized by gradual involvement of several joints, with involvement of some joints occurring following partial or full resolution of arthritis in joints with an earlier onset. peter owl:Class HP:0012457 biolink:NamedThing Medial calcification of medium-sized arteries Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022895 GitHub issue: https://github.com/obophenotype/human-phenotype-ontology/issues/6877 peter 2013-11-24T11:11:13Z owl:Class NBO:0000006 biolink:NamedThing learning and/or memory behavior "Behavior related to the acquisition and processing of information and/or the storage and retrieval of this information over time." [GO:jic] GO:0007611 tmpxe7fu0cj_hp_relaxed.owl learning and/or memory behaviour 2011-04-14T01:03:39Z George Gkoutos behavior_ontology owl:Class HP:0005432 biolink:NamedThing Transient hypogammaglobulinemia of infancy At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia. tmpxe7fu0cj_hp_relaxed.owl Newborn gammaglobulin deficiency SNOMEDCT_US:88714009|UMLS:C0272238|UMLS:C4020822 human_phenotype owl:Class HP:0007685 biolink:NamedThing Peripheral retinal avascularization tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851406 human_phenotype owl:Class HP:0011812 biolink:NamedThing Agraphesthesia Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination). tmpxe7fu0cj_hp_relaxed.owl UMLS:C1328618 peter 2012-04-28T02:56:29Z human_phenotype owl:Class HP:0100813 biolink:NamedThing Testicular torsion Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain. tmpxe7fu0cj_hp_relaxed.owl Spermatic cord torsion UMLS:C0037856|SNOMEDCT_US:49198006|SNOMEDCT_US:81996005|MSH:D013086 Many of the symptoms of testicular torsion are similar to the infection epididymitis. doelkens 2011-06-09T02:03:12Z human_phenotype owl:Class CL:0011030 biolink:NamedThing dermal microvascular endothelial cell Any microvascular endothelial cell that is part of the dermis. tmpxe7fu0cj_hp_relaxed.owl dermal microvascular endothelium cell|DMEC cell owl:Class PATO:0000992 biolink:NamedThing viscosity tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0005253 biolink:NamedThing Increased anterioposterior diameter of thorax tmpxe7fu0cj_hp_relaxed.owl Increased anterioposterior diameter of chest UMLS:C1848760 human_phenotype owl:Class HP:0003378 biolink:NamedThing Axonal degeneration/regeneration A pattern of simultaneous degeneration and regeneration of axons (see comment). tmpxe7fu0cj_hp_relaxed.owl Axon degeneration and regeneration UMLS:C1968790 This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibres from the proximal nerve segment. human_phenotype owl:Class HP:0008636 biolink:NamedThing Lobular glomerulopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024651 human_phenotype owl:Class HP:0025697 biolink:NamedThing Fibrin casts A type of airway casts that consist of plasma components and inflammatory cells. tmpxe7fu0cj_hp_relaxed.owl Pseudomembranes|Cellular airway casts|Type I airway casts|Diphtheroid membranes peterrobinson owl:Class HP:0003348 biolink:NamedThing Hyperalaninemia An increased concentration of alanine in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased blood alanine|Increased serum alanine UMLS:C1839424|SNOMEDCT_US:2359002|UMLS:C0268630|MSH:C562684|UMLS:C1849489 This class referring to the clinical feature Hyperalaninemia and not to the disease entry. Normal alanine blood levels are around 350-400 micromole per liter. human_phenotype owl:Class HP:0012356 biolink:NamedThing Decreased mannosylation of N-linked protein glycosylation Reduced addition of mannose to N-linked glycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022935 peter 2013-09-15T10:24:56Z human_phenotype owl:Class HP:0004856 biolink:NamedThing Normochromic microcytic anemia A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. tmpxe7fu0cj_hp_relaxed.owl Normochromic microcytic anaemia SNOMEDCT_US:4984008|UMLS:C0271902 human_phenotype owl:Class HP:0001319 biolink:NamedThing Neonatal hypotonia Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. tmpxe7fu0cj_hp_relaxed.owl Hypotonia, in neonatal onset|Hypotonia, neonatal|Congenital hypotonia|Low muscle tone, in neonatal onset MSH:D009123|SNOMEDCT_US:205294008|UMLS:C2267233 HP:0008976|HP:0006830 human_phenotype owl:Class HP:0031758 biolink:NamedThing Lateral rectus muscle restriction Mechanical limitation of the range of movement of the lateral rectus muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:33:00+00:00 peter owl:Class HP:0009523 biolink:NamedThing Triangular epiphysis of the middle phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl Triangular end part of the middle bone of the index finger UMLS:C4024310 doelkens 2009-01-16T01:12:17Z human_phenotype owl:Class GO:2000383 biolink:NamedThing regulation of ectoderm development Any process that modulates the frequency, rate or extent of ectoderm development. tmpxe7fu0cj_hp_relaxed.owl vk 2011-02-15T03:17:10Z biological_process owl:Class HP:0033687 biolink:NamedThing Short term memory impairment A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds). tmpxe7fu0cj_hp_relaxed.owl Short term memory loss 2021-03-07 22:47:14+00:00 The impairment of short term memory (STM) involves forgetting information to which the subject has been recently exposed. An individual with signs of losing STM, indeed, asks for the same questions repeatedly, forgets where he just put something, forgets recent events or something he saw or read recently. The loss of immediate memory is also termed as fixation amnesia. Practically, STM works as a kind of scratchpad for temporary recall of a limited number of data that come from the sensory register and are ready to be processed through attention and recognition. On the other side, information collected in the long term memory (LTM) storage consist of memories for the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that). peter owl:Class HP:0410361 biolink:NamedThing Decreased core 1 O-glycan level An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins. tmpxe7fu0cj_hp_relaxed.owl Decreased T-antigen concentration owl:Class HP:0030062 biolink:NamedThing Craniopharyngioma A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:40009002|SNOMEDCT_US:189179009|UMLS:C0010276|MSH:D003397 Patients may present with bitemporal inferior quadrantanopia leading to bitemporal hemianopia, since the tumor may compress the optic chiasm. owl:Class HP:0030061 biolink:NamedThing Neuroectodermal neoplasm A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. tmpxe7fu0cj_hp_relaxed.owl MSH:D017599|SNOMEDCT_US:253096008|SNOMEDCT_US:73676002|UMLS:C0206093 owl:Class HP:0012500 biolink:NamedThing Verrucous papule A wartlike (with multiple small elevated projections) papule. tmpxe7fu0cj_hp_relaxed.owl Papillomatous papule UMLS:C4022877 peter 2013-11-30T09:03:16Z human_phenotype owl:Class MAXO:0000427 biolink:NamedThing MRI of the brain A medical examination performed using of magnetic resonance imaging to image the brain. tmpxe7fu0cj_hp_relaxed.owl brain magnetic resonance imaging|brain MRI|Nuclear magnetic resonance imaging of the brain 2019-05-19T20:39:14Z http://orcid.org/0000-0001-7941-2961 owl:Class HP:0033550 biolink:NamedThing Necrotizing pulmonary granulomatosis A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese. tmpxe7fu0cj_hp_relaxed.owl Caseating pulmonary granulomatosis 2021-01-22 12:12:26+00:00 In hematoxylin and eosin stain staining, necrotizing pulmonary granulomatosis is characterized by acellular pink areas of necrosis surrounded by a granulomatous inflammatory process. peter owl:Class HP:0030250 biolink:NamedThing Pulmonary granulomatosis The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0856628 owl:Class HP:0032864 biolink:NamedThing Focal aware sensory seizure with auditory features A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl This type of seizure is characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones. More complex auditory hallucinations such as voices are considered a focal cognitive seizure. Focal sensory auditory seizures involve auditory cortex in the lateral superior temporal lobe. peter owl:Class HP:0100021 biolink:NamedThing Cerebral palsy Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. tmpxe7fu0cj_hp_relaxed.owl Cerebral paralysis|CP UMLS:C0007789|SNOMEDCT_US:128188000|MSH:D002547 doelkens 2010-05-28T11:46:16Z owl:Class HP:0033997 biolink:NamedThing Perinuclear cardiomyocyte vacuolization Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart. tmpxe7fu0cj_hp_relaxed.owl 2021-08-21 14:08:32+00:00 peter owl:Class HP:0040093 biolink:NamedThing Asymmetry of the position of the ears tmpxe7fu0cj_hp_relaxed.owl Uneven ears UMLS:C4022444 HPO:skoehler owl:Class HP:0012449 biolink:NamedThing Sacroiliac joint synovitis Inflammation of the synovial membrane of the sacroiliac joint. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022900 peter 2013-11-23T03:54:32Z human_phenotype owl:Class HP:0010298 biolink:NamedThing Smooth tongue Glossy appearance of the entire tongue surface. tmpxe7fu0cj_hp_relaxed.owl Smooth lingual surface|Atrophy of dorsum of tongue|Atrophy of lingual surface|Smooth tongue|Smooth surface of tongue|Smooth dorsum of tongue|Atrophy of tongue surface UMLS:C4280382|UMLS:C0155964|SNOMEDCT_US:9491003|UMLS:C4280381|UMLS:C4280383 This is due to reduction in number and/or size of the filiform papillae. A geographic tongue has localized areas of smoothening, but not sufficient to warrant use of the term Smooth tongue. peter 2009-07-12T11:58:17Z human_phenotype owl:Class HP:0033656 biolink:NamedThing Juxtaphrenic peak A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament. tmpxe7fu0cj_hp_relaxed.owl 2021-02-24 13:48:30+00:00 See Figure 32 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class PATO:0001795 biolink:NamedThing increased coiling A coiling which is relatively high. tmpxe7fu0cj_hp_relaxed.owl high coiling quality owl:Class CHEBI:23230 biolink:NamedThing chromanes tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0100563 biolink:NamedThing Diastomatomyelia Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022023 doelkens 2010-12-21T04:35:22Z human_phenotype owl:Class CL:0000160 biolink:NamedThing goblet cell A cell of the epithelial lining that produce and secrete mucins. tmpxe7fu0cj_hp_relaxed.owl chalice cell BTO:0001540|FMA:13148 cell owl:Class CHEBI:50297 biolink:NamedThing canonical nucleotide residue tmpxe7fu0cj_hp_relaxed.owl canonical nucleotide residues chebi_ontology owl:Class HP:0020151 biolink:NamedThing Anti-dsDNA antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA. tmpxe7fu0cj_hp_relaxed.owl Anti-DNA antibodies can be observed in persons with systemic lupus erythematosus (SLE), being a formal classification criterion. robinp 2019-07-05 20:03:40+00:00 owl:Class HP:0011777 biolink:NamedThing Thyroid papillary adenoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023192 peter 2012-04-22T06:02:12Z human_phenotype owl:Class MPATH:184 biolink:NamedThing sclerosis Any pathological thickening or hardening of a tissue. tmpxe7fu0cj_hp_relaxed.owl Induration George Gkoutos mouse_pathology.ontology owl:Class HP:0025396 biolink:NamedThing Decreased attenuation pattern on pulmonary HRCT Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography. tmpxe7fu0cj_hp_relaxed.owl Black lung pattern on pulmonary HRCT 2017-04-22 13:08:16+00:00 HPO:probinson owl:Class GO:0055057 biolink:NamedThing neuroblast division The process resulting in the physical partitioning and separation of a neuroblast into daughter cells. A neuroblast is any cell that will divide and give rise to a neuron. tmpxe7fu0cj_hp_relaxed.owl neuroblast cell division biological_process owl:Class HP:0045028 biolink:NamedThing Microlissencephaly Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements. tmpxe7fu0cj_hp_relaxed.owl Type 3 lissencephaly|Type III lissencephaly|Lissencephaly type III UMLS:C4021030 This is a severe phenotype that can be diagnosed at the fetopathological level, by which a diagnosis of lissencephaly can be made by the examination of the 6 layers of the cortex. Examination may show 3 layers or an extremely thin cortical plate consistent with the diagnosis of lissencephaly. HPO:skoehler owl:Class HP:0012899 biolink:NamedThing Handgrip myotonia Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. tmpxe7fu0cj_hp_relaxed.owl Grip myotonia UMLS:C1868623 peter 2014-06-23T11:10:53Z human_phenotype owl:Class HP:0004321 biolink:NamedThing Bladder fistula The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:68666001|MSH:D001747|UMLS:C0005690 peter 2008-02-25T12:32:00Z human_phenotype owl:Class UBERON:0002451 biolink:NamedThing endometrial gland The mucous secreting gland associated with the mucuous membrane lining the uterus. tmpxe7fu0cj_hp_relaxed.owl endometrial mucuous gland|glandulae uterinae|uterine gland|endometrium gland|endometrial gland BTO:0004518|BTO:0003433|UMLS:C1183035|NCIT:C33842|EMAPA:29919|MA:0001726 http://upload.wikimedia.org/wikipedia/commons/2/28/Gray1169.png uberon owl:Class simple or branched tubular HP:0007158 biolink:NamedThing Progressive extrapyramidal muscular rigidity A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). tmpxe7fu0cj_hp_relaxed.owl Progressive extrapyramidal rigidity UMLS:C4021580 human_phenotype owl:Class HP:0007076 biolink:NamedThing Extrapyramidal muscular rigidity Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). tmpxe7fu0cj_hp_relaxed.owl UMLS:C1852470 This is a classic type of extrapyramidal movement disorder. human_phenotype owl:Class HP:0002740 biolink:NamedThing Recurrent E. coli infections Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent. tmpxe7fu0cj_hp_relaxed.owl E coli infections|E coli infections, recurrent UMLS:C0014836|SNOMEDCT_US:71057007|MSH:D004927 human_phenotype owl:Class HP:0033243 biolink:NamedThing Pulmonary necrosis Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components. tmpxe7fu0cj_hp_relaxed.owl 2020-11-24 11:51:10+00:00 Cell blebbing (bulky morphology of the cell, disruptin of cell membranes and organelles) and nucleus changes (shrunken nucleus fragments and chromatin condesation) is visible with electron microscope and DAPI staining. The release of cell contents initiates an inflammatory response in the surrounding tissue is detectable with hematoxylin and eosin staining. peter owl:Class GO:0006892 biolink:NamedThing post-Golgi vesicle-mediated transport The directed movement of substances from the Golgi to other parts of the cell, including organelles and the plasma membrane, mediated by small transport vesicles. tmpxe7fu0cj_hp_relaxed.owl post-Golgi transport biological_process owl:Class HP:0011605 biolink:NamedThing Congenitally corrected transposition of the great arteries with ventricular septal defect A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum. tmpxe7fu0cj_hp_relaxed.owl CCTGA|ccTGA UMLS:C4023272 peter 2012-04-08T02:55:06Z owl:Class HP:0032477 biolink:NamedThing Elevated circulating vitamin B6 level An abnormally increased concentration of vitamin B6 in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 12:08:42+00:00 peter owl:Class UBERON:0009654 biolink:NamedThing alveolar artery A branch of the maxillary artery that is found in the gingiva, premolars, and molars. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37069|UMLS:C1706783|NCIT:C52848|MA:0001913 add child terms uberon owl:Class HP:0010942 biolink:NamedThing Echogenic intracardiac focus A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023634 An echogenic intracardiac focus (EIF) is generally believed to be a normal variant, observed in 5% of all fetuses during second trimester sonography, but the risk of aneuploidies such as Down syndrome is increased in fetuses with EIF. peter 2011-01-16T02:52:26Z owl:Class HP:0012859 biolink:NamedThing Esophageal leukoplakia A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease. tmpxe7fu0cj_hp_relaxed.owl Esophageal epidermoid metaplasia UMLS:C0267095|SNOMEDCT_US:89057003 hecht 2014-06-08T11:16:53Z human_phenotype owl:Class NBO:0000601 biolink:NamedThing emotional behavior phenotype "Observable characteristic of behavior related to the complex psychophysiological experience of an individual's state of mind as interacting with biochemical (internal) and environmental (external) influences." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T03:07:16Z George Gkoutos behavior_ontology owl:Class HP:0012259 biolink:NamedThing Absent inner and outer dynein arms Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022986 peter 2013-04-07T09:40:14Z human_phenotype owl:Class HP:0012257 biolink:NamedThing Absent inner dynein arms Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022988 peter 2013-04-07T09:38:46Z human_phenotype owl:Class HP:0032358 biolink:NamedThing Decreased post-bronchodilator forced expiratory volume in one second An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication. tmpxe7fu0cj_hp_relaxed.owl Decreased post bronchodilator forced expiratory volume in one second|Decreased postbronchodilator forced expiratory volume in one second 2019-02-23 17:09:37+00:00 peter owl:Class HP:0033306 biolink:NamedThing Decreased circulating fetuin A concentration A reduction below normal of fetuin A in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 22:12:28+00:00 peter owl:Class HP:0010522 biolink:NamedThing Dyslexia A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). tmpxe7fu0cj_hp_relaxed.owl Reading disability UMLS:C0476254|SNOMEDCT_US:52824009|MSH:D004410|SNOMEDCT_US:59770006|SNOMEDCT_US:9236007 peter 2009-09-20T11:19:24Z HP:0006871 human_phenotype owl:Class HP:0000910 biolink:NamedThing Wide-cupped costochondral junctions tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861213 human_phenotype owl:Class HP:0100351 biolink:NamedThing Contractures of the proximal interphalangeal joint of the 5th toe The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl Camptodactyly of the 5th toe|Camptodactyly of the fifth toe UMLS:C4021016 human_phenotype owl:Class GO:0045923 biolink:NamedThing positive regulation of fatty acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. tmpxe7fu0cj_hp_relaxed.owl stimulation of fatty acid metabolic process|upregulation of fatty acid metabolic process|activation of fatty acid metabolic process|up-regulation of fatty acid metabolic process|positive regulation of fatty acid metabolism|up regulation of fatty acid metabolic process biological_process owl:Class HP:0030114 biolink:NamedThing Absent muscle fiber dysferlin Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Absent muscle fibre dysferlin UMLS:C4022631 owl:Class CL:0000439 biolink:NamedThing prolactin secreting cell A peptide hormone cell that secretes prolactin. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0033226 biolink:NamedThing Bowman capsular hyaline drops An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. tmpxe7fu0cj_hp_relaxed.owl Capsular hyaline drops within Bowman's capsule 2020-10-30 11:00:07+00:00 peter owl:Class HP:0032944 biolink:NamedThing Alkaline urine Urine pH of 8 or higher. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0011145 biolink:NamedThing adductor muscle A muscle capable of adduction. Adduction is a movement which brings a part of the anatomy closer to the middle sagittal plane of the body. It is opposed to abduction. tmpxe7fu0cj_hp_relaxed.owl adductor ZFA:0005268|TAO:0002136|FMA:74998 uberon owl:Class A muscle that brings a body part closer to the sagittal plane of the body.[TAO] relationship loss: subclass cranial muscle (TAO:0001953)[TAO] we place the TAO class here even though it is a cranial muscle; it is defined functionally CHEBI:36526 biolink:NamedThing acidic glycosphingolipid tmpxe7fu0cj_hp_relaxed.owl CHEBI:22208|CHEBI:2428 chebi_ontology owl:Class HP:0410151 biolink:NamedThing Eosinophilic infiltration of the esophagus Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus. tmpxe7fu0cj_hp_relaxed.owl Eosinophilic esophagitis|Eosinophilic infiltration of the oesophagus 2018-03-13 04:36:03+00:00 owl:Class HP:0100633 biolink:NamedThing Esophagitis Inflammation of the esophagus. tmpxe7fu0cj_hp_relaxed.owl Inflammation of the esophagus|Oesophagitis|Inflammation of the oesophagus SNOMEDCT_US:16761005|MSH:D004941|MEDDRA:10030216|UMLS:C0014868 doelkens 2010-12-29T05:09:23Z human_phenotype owl:Class HP:0012494 biolink:NamedThing Anterior cerebral artery stenosis Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1504567 peter 2013-11-30T08:06:15Z human_phenotype owl:Class HP:0030641 biolink:NamedThing Incomplete congenital stationary night blindness tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073107 owl:Class HP:0012626 biolink:NamedThing Stage 4 chronic kidney disease A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). tmpxe7fu0cj_hp_relaxed.owl Stage 4 chronic kidney disease SNOMEDCT_US:431857002|UMLS:C2317473 peter 2014-01-17T01:23:43Z human_phenotype owl:Class HP:0007446 biolink:NamedThing Palmoplantar blistering A type of blistering that affects the skin of the palms of the hands and the soles of the feet. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024876 owl:Class HP:0005849 biolink:NamedThing Diffuse cerebral calcification Generalized deposition of calcium salts within the brain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025125 human_phenotype owl:Class HP:0005036 biolink:NamedThing Unilateral ulnar hypoplasia Underdevelopment of the ulna on only one side. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1837832 human_phenotype owl:Class HP:0012203 biolink:NamedThing Onychomycosis A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:414941008|MSH:D014009|UMLS:C0040261 peter 2013-03-12T12:08:30Z human_phenotype owl:Class HP:0005203 biolink:NamedThing Spontaneous esophageal perforation The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. tmpxe7fu0cj_hp_relaxed.owl Spontaneous esophageal rupture|Boerhaave syndrome SNOMEDCT_US:19995004|MSH:C536571|UMLS:C0238115 Esophageal perforation can lead to retained gastric contents, saliva, bile, and other substances entering the mediastinum, resulting in mediastinitis, which in turn may lead to sepsis. HP:0005251 human_phenotype owl:Class MAXO:0000520 biolink:NamedThing obstetric ultrasonography Use of medical ultrasonography in pregnancy where sound waves are used to create a real-time visual image of the developing fetus in the uterus. Imaging can include the mother's ovaries and uterus as well. tmpxe7fu0cj_hp_relaxed.owl obstetric sonography|prenatal ultrasound procedure 2020-01-24 19:29:52+00:00 owl:Class UBERON:0002027 biolink:NamedThing stratum corneum of epidermis The outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells. tmpxe7fu0cj_hp_relaxed.owl stratum corneum|epidermis stratum corneum|horny layer|cornified layer|keratinized squame layer of epidermis|stratum corneum epidermidis|horny layer of epidermis|keratinized squame layer BTO:0000344|FMA:67545|AAO:0010597|MA:0000804|CALOHA:TS-0981|NCIT:C33625|UMLS:C0221921|EMAPA:32787 http://upload.wikimedia.org/wikipedia/commons/2/20/Skinlayers.png|Epidermal:layers.png uberon owl:Class The keratinized outermost layer of the epidermis, which is periodically shed.[AAO] some oral epitehlium also has cornified layer / stratum corneum HP:0500018 biolink:NamedThing Abnormal cardiac exercise stress test Abnormal results of exercise on heart function. tmpxe7fu0cj_hp_relaxed.owl Abnormal treadmill test|Abnormal cardiac exercise test|Abnormal exercise test 2017-05-12 16:41:01+00:00 ORCID:0000-0001-7941-2961 owl:Class UBERON:0016553 biolink:NamedThing respiratory system mucus Any mucus produced by a mucosae of the respiratory system. This includes the mucus produced in the nasal cavity (nasal mucus) and mucus produced in the respiratory tract (phlegm). tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0012055 biolink:NamedThing Ciliary body melanoma Malignant tumor of melanocytes of the ciliary body. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0346379|SNOMEDCT_US:255015006|NCIT:C3224 peter 2012-08-01T02:01:02Z human_phenotype owl:Class HP:0030168 biolink:NamedThing Dilated superficial abdominal veins Increase in diameter of the veins located underneath the skin of the abdomen. tmpxe7fu0cj_hp_relaxed.owl Dilatation of the superficial abdominal veins UMLS:C4021050 There are two major causes of dilated superficial abdominal veins: (i) Liver cirrhosis and (ii) vena cava obstruction. With cirrhosis, the blood in the veins flows from umbilicus to periphery. owl:Class HP:0007879 biolink:NamedThing Allergic conjunctivitis Allergic Conjunctivitis is an allergic inflammation of the conjunctiva. tmpxe7fu0cj_hp_relaxed.owl MSH:D003233|UMLS:C0009766|SNOMEDCT_US:231854006|SNOMEDCT_US:473460002 human_phenotype owl:Class HP:0041078 biolink:NamedThing Decreased immunoglobulin level in body fluid An reduction from normal levels of immunoglobulins in body fluids, such as mucous. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0040138 biolink:NamedThing Mucinous histiocytosis Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone. tmpxe7fu0cj_hp_relaxed.owl Histiocytosis, mucinous UMLS:C0334126|SNOMEDCT_US:87412005 HPO:skoehler owl:Class HP:0034005 biolink:NamedThing Decreased dendritic spine number An abnormal reduction in the amount of spines on a given dendrite. tmpxe7fu0cj_hp_relaxed.owl 2021-08-22 15:18:59+00:00 A dendritic spine (or spine) is a small membranous protrusion from a neuron's dendrite that typically receives input from a single axon at the synapse. Dendrites are tree-like membrane-bound structures that project from neurons and receive inputs from other neurons. peter owl:Class HP:0025246 biolink:NamedThing Trichilemmal cyst Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous. tmpxe7fu0cj_hp_relaxed.owl Pilar cyst 2016-12-17 13:45:04+00:00 Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts. HPO:probinson owl:Class CHEBI:35786 biolink:NamedThing phosphosphingolipid tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0011423 biolink:NamedThing Hyperchloremia An abnormally increased chloride concentration in the blood. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:74450001|UMLS:C0085679 peter 2012-03-16T06:09:40Z human_phenotype owl:Class HP:0011422 biolink:NamedThing Abnormal blood chloride concentration An abnormality of chloride homeostasis or concentration in the body. tmpxe7fu0cj_hp_relaxed.owl Abnormality of chloride homeostasis|Abnormal blood Cl concentration|Abnormal blood Cl- concentration UMLS:C4023367 peter 2012-03-16T06:09:15Z human_phenotype owl:Class HP:0025255 biolink:NamedThing Ameliorated by pregnancy Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female. tmpxe7fu0cj_hp_relaxed.owl Pregnancy relieves symptoms 2016-12-17 14:19:29+00:00 HPO:probinson owl:Class HP:0007929 biolink:NamedThing Peripheral retinal detachment Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024771 human_phenotype owl:Class HP:0032583 biolink:NamedThing Renal glomerular foam cells tmpxe7fu0cj_hp_relaxed.owl Accumulation of foam cells (FC) in glomeruli of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. peter owl:Class UBERON:0019267 biolink:NamedThing gray matter of midbrain tmpxe7fu0cj_hp_relaxed.owl DHBA:10649|FMA:83913 uberon owl:Class HP:0031500 biolink:NamedThing Abdominal mass An abnormal enlargement or swelling in the abdomen. tmpxe7fu0cj_hp_relaxed.owl 2017-09-18 01:02:07+00:00 peter owl:Class NCBITaxon:197562 biolink:NamedThing Pancrustacea tmpxe7fu0cj_hp_relaxed.owl GC_ID:1|PMID:11557979|PMID:10874751 ncbi_taxonomy owl:Class HP:0032786 biolink:NamedThing Migrating focal seizure A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations. tmpxe7fu0cj_hp_relaxed.owl Migrating partial seizure Migrating focal seizures are one of the pathognomonic features of Epilepsy of infancy with Migrating Focal Seizures (also known as Migrating Partial Seizures of Infancy, MPSI), which is an epileptic encephalopathy characterized by normal early development, refractory focal seizures arising independently from both hemispheres, and severe psychomotor retardation. EEG correlate shows migrating ictal foci, shifting areas of ictal onset between hemispheres. peter owl:Class HP:0004940 biolink:NamedThing Generalized arterial calcification Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body. tmpxe7fu0cj_hp_relaxed.owl Generalised arterial calcification UMLS:C4025269 HP:0004967 owl:Class PATO:0002269 biolink:NamedThing accumulation A structural quality of the collection or massing of one physical object within another physical object. tmpxe7fu0cj_hp_relaxed.owl pooled 2010-10-26T01:57:02Z quality owl:Class UBERON:0001715 biolink:NamedThing oculomotor nuclear complex Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534). tmpxe7fu0cj_hp_relaxed.owl nucleus oculomotorius|nucleus of oculomotor nuclear complex|third cranial nerve nucleus|OM|nucleus of third cranial nerve|motor nucleus III|nucleus nervi oculomotorii|nIII|oculomotor III nucleus|nucleus of oculomotor nerve|oculomotor motornucleus|oculomotor nucleus|oculomotor III nuclear complex BM:MB-III|MBA:35|VHOG:0001389|EV:0100250|BIRNLEX:1240|XAO:0004389|EMAPA:35605|ZFA:0000553|FMA:54510|EFO:0002468|UMLS:C0228686|BAMS:3|EHDAA2:0004211|NCIT:C12897|MA:0001073|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=492|DHBA:12198|TAO:0000553|HBA:9030|BAMS:III http://upload.wikimedia.org/wikipedia/commons/d/da/Cn3nucleus.png uberon owl:Class The nucleus of the oculomotor nerve (cranial nerve III)[XAO:0004389]. CHEBI:83039 biolink:NamedThing crustacean metabolite An animal metabolite produced by arthropods such as crabs, lobsters, crayfish, shrimps and krill. tmpxe7fu0cj_hp_relaxed.owl crustacean metabolites chebi_ontology owl:Class CL:0000511 biolink:NamedThing androgen binding protein secreting cell A peptide hormone secreting cell that secretes androgen binding protein. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0020073 biolink:NamedThing Hypopigmented macule A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation. tmpxe7fu0cj_hp_relaxed.owl 2019-01-25 13:41:52+00:00 A reduction in skin pigmentation can be the result of factors such as decreased melanin content or anomalous melanin distribution. In diagnosing pigmentary disorders, Wood's light examination plays an important role, distinguishing hypo- and depigmentation. While a decreased pigment production is reported as hypopigmentation, depigmentation has been defined as loss of pigment. In a similar way, partial lack of melanin is known as hypomelanosis while amelanosis is the total absence of melanin. robinp owl:Class HP:0410255 biolink:NamedThing Transient neutropenia A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity. tmpxe7fu0cj_hp_relaxed.owl 2018-10-19 18:57:52+00:00 owl:Class GO:0045840 biolink:NamedThing positive regulation of mitotic nuclear division Any process that activates or increases the frequency, rate or extent of mitosis. tmpxe7fu0cj_hp_relaxed.owl up-regulation of mitosis|mitogenic activity|up regulation of mitosis|activation of mitosis|stimulation of mitosis|upregulation of mitosis|positive regulation of mitosis biological_process owl:Class HP:0000922 biolink:NamedThing Posterior rib cupping Wide, concave posterior rib end. tmpxe7fu0cj_hp_relaxed.owl Anterior and posterior rib cupping UMLS:C1837483 HP:0006622 human_phenotype owl:Class HP:0000872 biolink:NamedThing Hashimoto thyroiditis A chronic, autoimmune type of thyroiditis associated with hypothyroidism. tmpxe7fu0cj_hp_relaxed.owl Chronic lymphocytic thyroiditis|Hashimoto's thyroiditis SNOMEDCT_US:21983002|MSH:D050031|UMLS:C0677607 human_phenotype owl:Class HP:0033730 biolink:NamedThing Membranous lupus nephritis A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis tmpxe7fu0cj_hp_relaxed.owl Class V lupus nephritis 2021-04-16 13:42:22+00:00 peter owl:Class HP:0012752 biolink:NamedThing Focal T2 hypointense basal ganglia lesion A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022744 peter 2014-03-30T06:52:14Z human_phenotype owl:Class HP:0030196 biolink:NamedThing Fatigable weakness of respiratory muscles A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022587 owl:Class HP:0041200 biolink:NamedThing Fractured sternal end of clavicle A partial or complete breakage of the sternal end of clavicle. tmpxe7fu0cj_hp_relaxed.owl bone sternal end of clavicle owl:Class HP:0100150 biolink:NamedThing Fragmentation of the epiphysis of the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the middle bone of the 3rd toe UMLS:C4022271 doelkens 2010-06-24T10:24:13Z human_phenotype owl:Class HP:0030672 biolink:NamedThing Asteroid hyalosis The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0521770|SNOMEDCT_US:95800001 Asteroid hyalosis is a degenerative process. ORCID:0000-0003-0986-4123 owl:Class HP:0011551 biolink:NamedThing Right sided atrium to left ventricle and absent left sided atrioventricular connection tmpxe7fu0cj_hp_relaxed.owl Right sided atrium to left ventricle and absent left sided atrioventricular connexion UMLS:C4023303 peter 2012-04-07T11:32:53Z human_phenotype owl:Class HP:0033572 biolink:NamedThing Anti-H1 antibody positivity The presence of autoantibodies in the blood circulation that react against histone H1. tmpxe7fu0cj_hp_relaxed.owl 2021-01-24 13:51:55+00:00 peter owl:Class CHEBI:22718 biolink:NamedThing benzoates A monocarboxylic acid anion obtained by deprotonation of the carboxy group of any benzoic acid. tmpxe7fu0cj_hp_relaxed.owl benzoate anion chebi_ontology owl:Class HP:0001934 biolink:NamedThing Persistent bleeding after trauma tmpxe7fu0cj_hp_relaxed.owl Frequent bleeding with trauma|Prolonged bleeding after minor trauma|Excessive bleeding after minor trauma UMLS:C1844374 HP:0007463 human_phenotype owl:Class HP:0002680 biolink:NamedThing J-shaped sella turcica A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull. tmpxe7fu0cj_hp_relaxed.owl Hour glass shaped hypophysial fossa|Hour glass shaped pituitary fossa|J-shaped hypophysial fossa|Omega shaped hypophysial fossa|J-shaped pituitary fossa|Omega shaped sella turcica|Omega shaped pituitary fossa|Hour glass shaped sella turcica|J-shaped sella UMLS:C4072842|UMLS:C1854718|UMLS:C4072841 human_phenotype owl:Class HP:0011183 biolink:NamedThing EEG with hyperventilation-induced focal epileptiform discharges Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023490 hecht 2011-11-19T10:36:34Z human_phenotype owl:Class UBERON:0037459 biolink:NamedThing hair of limb tmpxe7fu0cj_hp_relaxed.owl limb hair FMA:54243 uberon owl:Class HP:0010726 biolink:NamedThing Prominent corneal nerve fibers Abnormal prominence of the corneal nerve fibers. tmpxe7fu0cj_hp_relaxed.owl Prominent corneal nerve fibres|Visible corneal nerve fibers|Visible corneal nerve fibres UMLS:C4021233 sdoelken 2010-04-20T10:52:24Z human_phenotype owl:Class HP:0008715 biolink:NamedThing Testicular dysgenesis tmpxe7fu0cj_hp_relaxed.owl UMLS:C0302885|SNOMEDCT_US:253847002 human_phenotype owl:Class HP:0031964 biolink:NamedThing Elevated circulating alanine aminotransferase concentration An abnormally high concentration in the circulation of alanine aminotransferase (ALT). tmpxe7fu0cj_hp_relaxed.owl Elevated serum alanine aminotransferase|Elevated serum ALT|Alanine aminotransferase increased|Elevated serum glutamic-pyruvic transaminase 2018-07-07 14:37:06+00:00 Alanine aminotransferase (ALT) is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells. peter owl:Class HP:0025653 biolink:NamedThing Placenta percreta Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs. tmpxe7fu0cj_hp_relaxed.owl Abnormal placental pentration beyond the uterine wall peterrobinson owl:Class GO:0009615 biolink:NamedThing response to virus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. tmpxe7fu0cj_hp_relaxed.owl response to viruses biological_process owl:Class GO:0090273 biolink:NamedThing regulation of somatostatin secretion Any process that modulates the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. tmpxe7fu0cj_hp_relaxed.owl tb 2010-02-05T02:54:14Z biological_process owl:Class HP:0025567 biolink:NamedThing Central serous chorioretinopathy An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. tmpxe7fu0cj_hp_relaxed.owl 2017-12-14 13:33:21+00:00 The condition can be precipitated by psychosocial stress and hypercortisolism. Ophthalmoscopic signs of CSC range from mono- or paucifocal RPE lesions with prominent elevation of the neurosensory retina by clear fluid - typical of cases of recent onset - to shallow detachments overlying large patches of irregularly depigmented RPE. The spectrum of lesions includes RPE detachments. Granular or fibrinous material may accumulate in the subretinal cavity. Serous detachment often resolves spontaneously. HPO:probinson owl:Class HP:0010015 biolink:NamedThing Absent epiphysis of the 1st metacarpal tmpxe7fu0cj_hp_relaxed.owl Absent end part of the 1st long bone of hand UMLS:C4024108 doelkens 2009-05-27T04:02:50Z human_phenotype owl:Class HP:0032060 biolink:NamedThing Epithelioid hemangioma A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area. tmpxe7fu0cj_hp_relaxed.owl Angiolymphoid hyperplasia with eosinophilia 2018-09-16 11:50:05+00:00 Epithelioid hemangioma is most common in middle-aged adults. peter owl:Class HP:0002139 biolink:NamedThing Arrhinencephaly tmpxe7fu0cj_hp_relaxed.owl MSH:D016142|UMLS:C0078982 human_phenotype owl:Class HP:0025700 biolink:NamedThing Anhydramnios A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class GO:0051645 biolink:NamedThing Golgi localization Any process in which the Golgi is transported to, and/or maintained in, a specific location within the cell. tmpxe7fu0cj_hp_relaxed.owl establishment and maintenance of Golgi localization|Golgi body localization|Golgi apparatus localization|Golgi localisation biological_process owl:Class HP:0012863 biolink:NamedThing Abnormal male germ cell morphology A structural anomaly of a male reproductive cell. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022703 hecht 2014-06-09T10:05:33Z human_phenotype owl:Class PATO:0001925 biolink:NamedThing surface feature shape A surface shape quality inhering in a bearer by virtue of the bearer's shape of features present on its surface or outer shell. tmpxe7fu0cj_hp_relaxed.owl This quality either inheres directly in the surface, or in the entity that has the surface. For example, to say that a particular fly wing is curved is shorthand for saying the wing has a surface which is curved. quality owl:Class HP:0011624 biolink:NamedThing Apical muscular ventricular septal defect A muscular ventricular septal defect located at the apex of the heart. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023264 peter 2012-04-08T09:45:43Z human_phenotype owl:Class HP:0032528 biolink:NamedThing Elevated urinary 4-hydroxybutyric acid An increased amount of 4-hydroxybutyric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-05-27 12:47:50+00:00 A 4-hydroxy monocarboxylic acid that is butyric acid in which one of the hydrogens at position 4 is replaced by a hydroxy group. peter owl:Class HP:0010304 biolink:NamedThing Spinal meningeal diverticulum An outpouching of the spinal meninges. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023913 peter 2009-07-12T01:11:53Z human_phenotype owl:Class HP:0009011 biolink:NamedThing Hypoplasia of serratus anterior muscle Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1868167 human_phenotype owl:Class UBERON:0006763 biolink:NamedThing epithelium of conjunctiva Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue. tmpxe7fu0cj_hp_relaxed.owl conjunctival epithelium|conjunctiva epithelium UMLS:C1179037|BTO:0005131|NCIT:C32365|EFO:0001916|FMA:62131 uberon owl:Class HP:0031162 biolink:NamedThing Impaired oropharyngeal swallow response Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. tmpxe7fu0cj_hp_relaxed.owl 2017-06-18 17:51:36+00:00 In the involuntary pharyngeal phase, the soft palate rises to close the nasopharynx and prevent nasal regurgitations. The hyoid bone rises, bringing the larynx up, while the epiglottis closes the entrance to the larynx. The base of the tongue contacts the pharyngeal wall, at the same time as the hyoid moves forward, coinciding with the relaxation of the cricopharyngeus muscle and the opening of the upper esophageal sphincter. peter owl:Class HP:0004634 biolink:NamedThing Cuboid-shaped vertebral bodies tmpxe7fu0cj_hp_relaxed.owl Cuboid vertebral bodies UMLS:C2673653 human_phenotype owl:Class UBERON:0011766 biolink:NamedThing left recurrent laryngeal nerve tmpxe7fu0cj_hp_relaxed.owl left recurrent laryngeal branch|vagus X nerve left recurrent laryngeal branch|left recurrent laryngeal nerve FMA:14469|SCTID:280300006|EMAPA:25350|MA:0001107 https://upload.wikimedia.org/wikipedia/commons/6/64/Recurrent_laryngeal_nerve.svg uberon owl:Class The left nerve is longer than the right, because it crosses under the arch of the aorta at the ligamentum arteriosum.[WP] HP:0032133 biolink:NamedThing Transient decreased circulating total IgG A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. tmpxe7fu0cj_hp_relaxed.owl 2018-11-22 14:08:44+00:00 peter owl:Class HP:0041057 biolink:NamedThing Transient decreased circulating IgG4 A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Transient decreased IgG4 in blood owl:Class HP:0025717 biolink:NamedThing Skeletal muscle autophagosome accumulation Abnormal accumulation of autophagosomes in skeletal muscle tissue. tmpxe7fu0cj_hp_relaxed.owl Autophagic material in muscle biopsy Autophagy (self-eating) is a process of lysosomal degradation of long-lived proteins and damaged organelles. In macroautophagy (hereafter referred to as autophagy), double-membrane vesicles known as autophagosomes sequester cytoplasm and damaged organelles. The autophagosomes fuse with endosomes, giving rise to amphisomes, followed by fusion with lysosomes where degradation of autophagosomal contents is completed. Autophagy is a critical survival mechanism under conditions of nutrient deprivation and appears to play a role in basal protein turnover as well. Under normal conditions, autophagosomes and amphisomes are quickly degraded by lysosomes, and their content is recycled. In certain pathological states, significant accumulation of autophagosomes is observed. peterrobinson owl:Class HP:0033705 biolink:NamedThing Tearfulness A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control. tmpxe7fu0cj_hp_relaxed.owl 2021-03-12 13:20:59+00:00 peter owl:Class CHEBI:85234 biolink:NamedThing human blood serum metabolite Any metabolite (endogenous or exogenous) found in human blood serum samples. tmpxe7fu0cj_hp_relaxed.owl human blood serum metabolites chebi_ontology owl:Class HP:0030815 biolink:NamedThing Lipoma of the tongue A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue. tmpxe7fu0cj_hp_relaxed.owl Tongue lipoma UMLS:C0238467 owl:Class HP:0034066 biolink:NamedThing Anti-carbonic anhydrase VI antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI. tmpxe7fu0cj_hp_relaxed.owl Anti-CA6 antibody positivity 2021-12-18 14:22:44+00:00 peter owl:Class GO:0033366 biolink:NamedThing protein localization to secretory granule A process in which a protein is transported to, or maintained in, a location within a secretory granule. tmpxe7fu0cj_hp_relaxed.owl protein localisation in secretory granule|protein localization in secretory granule biological_process owl:Class CHEBI:139588 biolink:NamedThing alpha-hydroxy ketone An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety. tmpxe7fu0cj_hp_relaxed.owl alpha-hydroxy-ketone|alpha-hydroxyketone|alpha-hydroxy-ketones|alpha-hydroxyketones|alpha-hydroxy ketones PMID:23295224|PMID:19908854|PMID:20382022|PMID:15326516 chebi_ontology owl:Class HP:0007452 biolink:NamedThing Midface capillary hemangioma tmpxe7fu0cj_hp_relaxed.owl Midfacial capillary hemangioma UMLS:C1849377 HP:0007611 human_phenotype owl:Class HP:0031342 biolink:NamedThing Duodenal arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 13:55:02+00:00 peter owl:Class HP:0012205 biolink:NamedThing Globozoospermia Any structural anomaly of the acrosome resulting in a round sperm head. tmpxe7fu0cj_hp_relaxed.owl MSH:D000072660|UMLS:C0403825|SNOMEDCT_US:236818008 peter 2013-03-12T12:21:08Z human_phenotype owl:Class HP:4000016 biolink:NamedThing Anti-periplakin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 14:25:13+00:00 robinp owl:Class HP:0033914 biolink:NamedThing Arcuate artery intima/media amyloidosis Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. tmpxe7fu0cj_hp_relaxed.owl Amyloidosis within arcuate arterial intima/media 2021-06-23 23:14:47+00:00 peter owl:Class GO:0090300 biolink:NamedThing positive regulation of neural crest formation Any process that increases the rate, frequency, or extent of neural crest formation. Neural crest formation is the formation of the specialized region of ectoderm between the neural ectoderm (neural plate) and non-neural ectoderm. The neural crest gives rise to the neural crest cells that migrate away from this region as neural tube formation procedes. tmpxe7fu0cj_hp_relaxed.owl tb 2010-03-12T04:08:26Z biological_process owl:Class HP:0033250 biolink:NamedThing Nailfold capillary tortuosity An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels. tmpxe7fu0cj_hp_relaxed.owl 2020-11-25 14:19:32+00:00 peter owl:Class HP:0001178 biolink:NamedThing Ulnar claw An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025799 An ulnar claw, also known as claw hand, is an abnormal hand position that is associated with lesions of the ulnar nerve. Note that ulnar claw is to be distinguished from ectrodactyly, which also can be referred to as claw hand. human_phenotype owl:Class HP:0032071 biolink:NamedThing Eosinophilic pneumonia The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia. tmpxe7fu0cj_hp_relaxed.owl Pulmonary eosinophilic infiltration|Pulmonary eosinophilic infiltrate|Pulmonary eosinophilia|Eosinophilic pulmonary infiltration 2018-09-30 15:15:06+00:00 Pulmonary function testing usually reveals a restrictive process with reduced diffusion capacity for carbon monoxide. Laboratory tests typical include increased levels of eosinophils in the blood, a high erythrocyte sedimentation rate, iron deficiency anemia, and increased platelets. peter owl:Class HP:5000048 biolink:NamedThing Anti-Kv1.4 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4. tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-3387-1836 owl:Class PR:000003809 biolink:NamedThing alpha-fetoprotein A protein that is a translation product of the human AFP gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl HPAFP|alpha-1-fetoprotein|AFP|alpha-fetoglobulin Category=gene. protein owl:Class HP:0006775 biolink:NamedThing Multiple myeloma A malignant plasma cell tumor growing within soft tissue or within the skeleton. tmpxe7fu0cj_hp_relaxed.owl Kahler's disease|Plasmocytoma SNOMEDCT_US:109989006|UMLS:C0032131|SNOMEDCT_US:10639003|MSH:D009101|SNOMEDCT_US:55921005|SNOMEDCT_US:415112005|UMLS:C0026764|MSH:D010954 human_phenotype owl:Class HP:0010943 biolink:NamedThing Echogenic fetal bowel Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone. tmpxe7fu0cj_hp_relaxed.owl Echogenic bowel|Echogenic foetal bowel UMLS:C2936423|MSH:D058535 Echogenic fetal bowel may be observed in fetuses with normal outcomes, but may also be a marker for diseases such as cystic fibrosis, congenital infection, chromosomal anomalies, and intraamniotic bleeding. This finding can be observed on prenatal ultrasound. The echogenicity has been classified as either focal or multifocal. Grade 2 suggests that echogenicity is equal to bone whereas grade 3 suggests that it is greater. peter 2011-01-16T03:04:36Z owl:Class HP:0033225 biolink:NamedThing Glomerular parietal epithelial cell hypertrophy An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present tmpxe7fu0cj_hp_relaxed.owl Hypertrophy of the glomerular parietal epithelial cell 2020-10-30 10:42:41+00:00 peter owl:Class HP:0033223 biolink:NamedThing Abnormal glomerular parietal epithelial cell morphology Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. tmpxe7fu0cj_hp_relaxed.owl 2020-10-30 10:23:28+00:00 peter owl:Class HP:0001419 biolink:NamedThing X-linked recessive inheritance A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. tmpxe7fu0cj_hp_relaxed.owl X-linked recessive UMLS:C1845977 human_phenotype owl:Class HP:0033849 biolink:NamedThing Bilingual aphasia The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages. tmpxe7fu0cj_hp_relaxed.owl 2021-06-01 18:43:06+00:00 peter owl:Class HP:0100654 biolink:NamedThing Retrobulbar optic neuritis Optic neuritis that occurs in the section of the optic nerve located behind the eyeball. tmpxe7fu0cj_hp_relaxed.owl Retrobulbar neuritis SNOMEDCT_US:230507009|MSH:D009902|UMLS:C0085582 doelkens 2010-12-30T09:57:09Z human_phenotype owl:Class HP:0100124 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the innermost bone of the 2nd toe UMLS:C4022297 doelkens 2010-06-24T10:06:29Z human_phenotype owl:Class HP:0500173 biolink:NamedThing Reflex asystolic syncope A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure. tmpxe7fu0cj_hp_relaxed.owl Reflex anoxic seizure|Reflex anoxic seizures 2018-11-20 13:57:33+00:00 owl:Class HP:0033434 biolink:NamedThing Nasal septum perforation A full-thickness defect of the nasal septum. tmpxe7fu0cj_hp_relaxed.owl Perforation of the nasal septum|Nasal-septum perforation 2021-01-09 18:14:19+00:00 peter owl:Class HP:0008082 biolink:NamedThing Medial deviation of the foot tmpxe7fu0cj_hp_relaxed.owl UMLS:C2673401 human_phenotype owl:Class CHEBI:24860 biolink:NamedThing iodine molecular entity tmpxe7fu0cj_hp_relaxed.owl iodine molecular entity|iodine molecular entities|iodine compounds chebi_ontology owl:Class HP:0032033 biolink:NamedThing Vertical eyelid laxity Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present. tmpxe7fu0cj_hp_relaxed.owl 2018-09-01 14:52:17+00:00 peter owl:Class HP:0030655 biolink:NamedThing Umbilical cord knot An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0344363|SNOMEDCT_US:237309005 When the true knot remains tight, it may impede the circulation of the fetus and may result to fetal death in utero especially in labor. UToronto:chum owl:Class HP:0010855 biolink:NamedThing EEG with localized low amplitude activity An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). tmpxe7fu0cj_hp_relaxed.owl EEG with localised low amplitude activity|EEG: localised low amplitude activity UMLS:C4021213 peter 2010-07-11T08:36:03Z human_phenotype owl:Class HP:0033195 biolink:NamedThing Perianal erythema Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus. tmpxe7fu0cj_hp_relaxed.owl 2020-10-10 15:51:04+00:00 peter owl:Class HP:5000011 biolink:NamedThing Anti-GAD65 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65). tmpxe7fu0cj_hp_relaxed.owl Anti-glutamic acid decarboxylase 65 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0031435 biolink:NamedThing Monotonic speech A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice. tmpxe7fu0cj_hp_relaxed.owl 2017-09-16 12:36:08+00:00 peter owl:Class HP:0033975 biolink:NamedThing Absent second fingernail Absence of the fingernail of the index (second) finger. tmpxe7fu0cj_hp_relaxed.owl 2021-06-25 13:58:53+00:00 peter owl:Class HP:0033579 biolink:NamedThing Decreased growth hormone responses to growth hormone-releasing hormone challenge Insufficient growth hormone secretion following administration of growth hormone-releasing hormone. tmpxe7fu0cj_hp_relaxed.owl Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge 2021-01-24 14:55:47+00:00 peter owl:Class HP:0033110 biolink:NamedThing Elevated circulating alpha-aminobutyric acid concentration An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating homoalanine concentration 2020-08-29 12:06:38+00:00 peter owl:Class HP:0002829 biolink:NamedThing Arthralgia Joint pain. tmpxe7fu0cj_hp_relaxed.owl Arthritic pain|Joint pains|Joint pain|Arthralgias SNOMEDCT_US:57676002|UMLS:C0003862|MSH:D018771 Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis. owl:Class HP:0100459 biolink:NamedThing Osteolytic defects of the distal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Osteolytic defects of the outermost bone of the 4th toe UMLS:C4022068 human_phenotype owl:Class HP:0012174 biolink:NamedThing Glioblastoma multiforme A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation. tmpxe7fu0cj_hp_relaxed.owl Glioblastoma UMLS:C1621958|SNOMEDCT_US:63634009|SNOMEDCT_US:393563007|MSH:D005909 peter 2013-02-23T09:47:02Z HP:0100843 human_phenotype owl:Class HP:0008271 biolink:NamedThing Abnormal cartilage collagen Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix. tmpxe7fu0cj_hp_relaxed.owl Abnormal type II collagen|Abnormal hyaline collagen UMLS:C4021847|UMLS:C4020804|UMLS:C4020803 human_phenotype owl:Class HP:0410291 biolink:NamedThing Negativism Opposing or not responding to instructions or external stimuli. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 20:32:25+00:00 owl:Class HP:0032548 biolink:NamedThing Increased placental thickness Abnormally elevated placental thickness. tmpxe7fu0cj_hp_relaxed.owl Placental thickness increased 2019-06-12 10:49:00+00:00 Placental thickness can be measured ultrasonographically at the thickest portion of the placenta or beneath the cord insertion, and in a representative portion perpendicular to the chorionic plate. The ultrasonographic measurement of placental thickness is a simple method to estimate placental size, and a thick placenta may be a useful predictor of adverse pregnancy outcomes. peter owl:Class HP:0007943 biolink:NamedThing Congenital stapes ankylosis A form of stapes ankylosis with congenital onset. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866657 human_phenotype owl:Class HP:0000381 biolink:NamedThing Stapes ankylosis Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). tmpxe7fu0cj_hp_relaxed.owl Stapes fixation UMLS:C1861326 Stapes ankylosis may be congenital or acquired, in which case it is referred to as otosclerosis. Otosclerosis is the most common cause of progressive conductive hearing loss in adults, and is generally manifested as nonsyndromic, delayed-onset, conductive hearing loss, but it may also affect the inner ear to cause sensorineural loss. Congenital stapes ankylosis may be difficult to differentiate from otosclerosis when the diagnosis of conductive hearing loss is delayed. owl:Class HP:0100662 biolink:NamedThing Chondritis Inflammation of cartilage. tmpxe7fu0cj_hp_relaxed.owl Cartilage inflammation UMLS:C0008439|SNOMEDCT_US:46176001 doelkens 2010-12-30T12:57:50Z owl:Class HP:0011610 biolink:NamedThing Type IV truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present. tmpxe7fu0cj_hp_relaxed.owl Type 4 truncus arteriosus|Persistent truncus arteriosus type IV Fyler:540|Fyler:0540|UMLS:C4021135 According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. peter 2012-04-08T03:11:07Z human_phenotype owl:Class GO:1904937 biolink:NamedThing sensory neuron migration The orderly movement of a sensory neuron from one site to another. tmpxe7fu0cj_hp_relaxed.owl ah 2016-02-01T14:15:50Z biological_process owl:Class HP:0031931 biolink:NamedThing Ocular flutter Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. tmpxe7fu0cj_hp_relaxed.owl 2018-07-04 20:01:21+00:00 peter owl:Class HP:0004254 biolink:NamedThing Delayed ossification of the trapezium Formation of bone tissue of trapezium is less than expected for age. tmpxe7fu0cj_hp_relaxed.owl Delayed maturation of the trapezium UMLS:C4021669 human_phenotype owl:Class HP:0011313 biolink:NamedThing Narrow nail Decreased width of nail. tmpxe7fu0cj_hp_relaxed.owl Narrow nail UMLS:C4021829 hecht 2012-02-12T01:33:34Z HP:0200076 human_phenotype owl:Class HP:0030509 biolink:NamedThing Retinal racemose hemangioma tmpxe7fu0cj_hp_relaxed.owl Retinal racemose haemangioma UMLS:C4072993 owl:Class HP:0032737 biolink:NamedThing Focal emotional seizure with paranoia Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0003031 biolink:NamedThing Ulnar bowing Bending of the diaphysis (shaft) of the ulna. tmpxe7fu0cj_hp_relaxed.owl Bowed ulna|Curved ulna|Curving of inner forearm bone UMLS:C1865847 Ulnar bowing is usually in the convex posterior direction. HP:0003983 human_phenotype owl:Class UBERON:0016888 biolink:NamedThing transitional anatomical structure An embryonic anatomical entity that will turn into one or more other anatomical entities, perhaps with other anatomical entities, later in development. tmpxe7fu0cj_hp_relaxed.owl AEO:0000132 uberon owl:Class HP:0012674 biolink:NamedThing Aplasia of the lower vagina A failure to develop of the lower part of the vagina. tmpxe7fu0cj_hp_relaxed.owl Agenesis of the lower vagina|Absent lower vagina UMLS:C0431646|SNOMEDCT_US:253834007 peter 2014-02-27T11:09:14Z human_phenotype owl:Class HP:0001842 biolink:NamedThing Foot acroosteolysis tmpxe7fu0cj_hp_relaxed.owl Acroosteolysis of feet UMLS:C4025744 human_phenotype owl:Class HP:0003918 biolink:NamedThing Sclerotic humeral metaphysis tmpxe7fu0cj_hp_relaxed.owl Stiffening of wide portion of long bone of upper arm|Hardening of wide portion of long bone of upper arm UMLS:C4025509 human_phenotype owl:Class HP:0005477 biolink:NamedThing Progressive sclerosis of skull base Progressively increasing bone density of the skull base without significant changes in bony contour. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1835470 human_phenotype owl:Class HP:0045055 biolink:NamedThing Tiger tail banding An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding. tmpxe7fu0cj_hp_relaxed.owl Tiger tail banding|Tiger-tail banding UMLS:C4073178 HPO:skoehler HP:0032461 owl:Class HP:0033802 biolink:NamedThing Intra-epidermal blistering A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. tmpxe7fu0cj_hp_relaxed.owl 2021-05-08 14:57:59+00:00 peter owl:Class MPATH:718 biolink:NamedThing pre-sacral teratoma Generally benign germ cell derived tumors of male or female containing derivatives from all three germ layers with differentiation in the malignant form being poor. Pre-sacral tumors located in the retrorectal space between the rectum and the sacrococcygeal part of the spine. tmpxe7fu0cj_hp_relaxed.owl Paul 2011-06-06T03:39:01Z mouse_pathology.ontology owl:Class HP:0011896 biolink:NamedThing Subconjunctival hemorrhage Bleeding beneath the mucous membrane that lines the inner surface of the eyelid. tmpxe7fu0cj_hp_relaxed.owl Subconjunctival haemorrhage UMLS:C0038534|SNOMEDCT_US:78768009 peter 2012-06-03T03:11:41Z human_phenotype owl:Class HP:0011296 biolink:NamedThing EEG with temporal sharp waves EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2206519 peter 2012-02-11T12:33:47Z human_phenotype owl:Class HP:0002326 biolink:NamedThing Transient ischemic attack tmpxe7fu0cj_hp_relaxed.owl Transient ischemic attacks|Mini stroke|TIA|Transient ischaemic attack|Transient ischaemic attacks UMLS:C0917805|MSH:D002546 human_phenotype owl:Class UBERON:0005664 biolink:NamedThing 2nd arch endoderm An endoderm that is part of a pharyngeal arch 2. tmpxe7fu0cj_hp_relaxed.owl 2nd pharyngeal arch endoderm VHOG:0001108|EMAPA:16274|RETIRED_EHDAA2:0000065|EMAPA:16278|EHDAA2:0000061|EMAPA:16276 uberon owl:Class In all vertebrates, the pharyngeal apparatus develops from a series of bulges found on the lateral surface of the head, the pharyngeal arches, which consist of a number of different embryonic cell types. Each arch has an external covering of ectoderm and inner covering of endoderm, and between these a mesenchymal filling of neural crest with a central core of mesoderm.[well established][VHOG] HP:0033222 biolink:NamedThing Decreased CD4:CD8 ratio An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells. tmpxe7fu0cj_hp_relaxed.owl Inverted CD4/CD8 ratio|Inverted CD4:CD8 ratio 2020-10-29 11:10:37+00:00 A low or inverted CD4/CD8 ratio is an immune risk phenotype and is associated with altered immune function, immune senescence, and chronic inflammation in both HIV-infected and uninfected populations. peter owl:Class HP:0031394 biolink:NamedThing Abnormal CD4:CD8 ratio Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 17:06:44+00:00 CD4 helper/inducer cells and CD8 cytotoxic/suppressor cells are 2 phenotypes of T lymphocytes, characterized by distinct surface markers and functions that mostly reside in lymph nodes but also circulate in the blood. The normal CD4/CD8 ratio in healthy hosts is poorly defined. Ratios between 1.5 and 2.5 are generally considered normal; however, a wide heterogeneity exists because sex, age, ethnicity, genetics, exposures, and infections may all impact the ratio. peter owl:Class CHEBI:35342 biolink:NamedThing 17alpha-hydroxy steroid The alpha-stereoisomer of 17-hydroxy steroid. tmpxe7fu0cj_hp_relaxed.owl 17alpha-hydroxy steroids|17-alpha-Hydroxysteroid KEGG:C03336 CHEBI:13585|CHEBI:782|CHEBI:19174 chebi_ontology owl:Class GO:0061193 biolink:NamedThing taste bud development The progression of the taste bud over time, from its formation to the mature state. The taste bud is a specialized area of the tongue that contains taste receptors. tmpxe7fu0cj_hp_relaxed.owl dph 2010-07-27T10:55:08Z biological_process owl:Class HP:0033660 biolink:NamedThing Hand paresthesia Tingling (often refered to as a pins and needles feeling) and numbness in the hand. tmpxe7fu0cj_hp_relaxed.owl Hand tingling 2021-02-27 14:33:17+00:00 peter owl:Class HP:0031006 biolink:NamedThing Acroparesthesia A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes. tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 20:23:24+00:00 peter owl:Class HP:0004820 biolink:NamedThing Acute myelomonocytic leukemia An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. tmpxe7fu0cj_hp_relaxed.owl Acute myelomonocytic leukaemia MSH:D015479|SNOMEDCT_US:30962008|SNOMEDCT_US:110005000|SNOMEDCT_US:277601005|UMLS:C0023479 human_phenotype owl:Class GO:0071840 biolink:NamedThing cellular component organization or biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. tmpxe7fu0cj_hp_relaxed.owl cellular component organisation or biogenesis at cellular level|cellular component organization or biogenesis at cellular level|cellular component organisation or biogenesis mah 2010-09-10T01:39:16Z GO:0071841 biological_process owl:Class HP:0004909 biolink:NamedThing Hypokalemic hypochloremic metabolic alkalosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C0740896 human_phenotype owl:Class HP:0001960 biolink:NamedThing Hypokalemic metabolic alkalosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C0740898 human_phenotype owl:Class HP:0040159 biolink:NamedThing Abnormal spaced incisors tmpxe7fu0cj_hp_relaxed.owl Abnormal spaced incisors|Abnormality of spacing of front teeth|Abnormality of spacing of incisors UMLS:C4022410 HPO:skoehler owl:Class HP:0033581 biolink:NamedThing Absent peripheral lymph nodes in presence of infection The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases. tmpxe7fu0cj_hp_relaxed.owl 2021-01-24 16:35:05+00:00 peter owl:Class HP:4000028 biolink:NamedThing Anti-LABD97 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 14:52:23+00:00 robinp owl:Class GO:0061040 biolink:NamedThing female gonad morphogenesis The process in which a female gonad is generated and organized. tmpxe7fu0cj_hp_relaxed.owl ovary morphogenesis dph 2010-02-22T11:29:28Z biological_process owl:Class HP:0011558 biolink:NamedThing Double inlet to single ventricle with common atrioventricular orifice tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023300 peter 2012-04-07T12:02:03Z human_phenotype owl:Class HP:0007383 biolink:NamedThing Congenital localized absence of skin tmpxe7fu0cj_hp_relaxed.owl Congenital localised skin absence|Congenital localized skin absence|Congenital localised absence of skin UMLS:C2673597 HP:0007557 human_phenotype owl:Class HP:0025141 biolink:NamedThing Gingival calcification Ectopic deposition of calcium salts found in the gingiva. tmpxe7fu0cj_hp_relaxed.owl Gingival calcifications 2016-11-27 14:27:44+00:00 HPO:probinson owl:Class HP:0003333 biolink:NamedThing Increased serum beta-hexosaminidase tmpxe7fu0cj_hp_relaxed.owl UMLS:C2673361 This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside. HP:0008299 human_phenotype owl:Class HP:0007572 biolink:NamedThing Hyperpigmented streaks tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866245 human_phenotype owl:Class HP:0033635 biolink:NamedThing Post-capillary pulmonary hypertension Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). tmpxe7fu0cj_hp_relaxed.owl Postcapillary pulmonary hypertension 2021-02-01 13:21:16+00:00 Post-capillary hypertension resulting from left heart disease causes backpressure and increases the hydrostatic pressure in the pulmonary veins which eventually results in increased pressure in pulmonary arteries. peter owl:Class HP:0012566 biolink:NamedThing Premature epimetaphyseal fusion in radius Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022841 peter 2014-01-04T02:09:50Z human_phenotype owl:Class HP:0008003 biolink:NamedThing Jerky ocular pursuit movements tmpxe7fu0cj_hp_relaxed.owl Jerky smooth pursuit UMLS:C1853558 HP:0007897 human_phenotype owl:Class HP:0012023 biolink:NamedThing Galactosuria Elevated concentration of galactose in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urinary galactose level UMLS:C0268157|SNOMEDCT_US:71690006 peter 2012-07-26T10:31:35Z human_phenotype owl:Class HP:0012124 biolink:NamedThing Intermediate uveitis Inflammation of the uveal tract in which the primary site of inflammation is the vitreous. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:314429009|UMLS:C0042166|MSH:D015867 hecht 2012-09-16T06:25:53Z human_phenotype owl:Class HP:0007933 biolink:NamedThing Broad lateral eyebrow Regional increase in the width (height) of the lateral eyebrow. tmpxe7fu0cj_hp_relaxed.owl Wide lateral eyebrow UMLS:C1837733 owl:Class HP:0033509 biolink:NamedThing EBV encephalitis Inflamation of the brain related to infection by Epstein-Barr virus. tmpxe7fu0cj_hp_relaxed.owl Epstein-Barr virus encephalitis 2021-01-10 17:18:31+00:00 peter owl:Class HP:0011350 biolink:NamedThing Mild receptive language delay A mild delay in the acquisition of the ability to understand the speech of others. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3532948|SNOMEDCT_US:89501000119108 peter 2012-03-01T10:52:40Z owl:Class GO:1990777 biolink:NamedThing lipoprotein particle A spherical particle containing non-covalently associated proteins and lipids. Examples are plasma lipoprotein particles which transport lipids in the blood or lymph. tmpxe7fu0cj_hp_relaxed.owl pr 2015-06-18T08:42:53Z cellular_component owl:Class HP:0025416 biolink:NamedThing Vaginal stricture A narrowing of the vagina owing to scar formation. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 11:24:25+00:00 HPO:probinson owl:Class CHEBI:52396 biolink:NamedThing alpha-oxyketone An oxyketone with the general formula R2C(=O) (R=/=H) where one or more of the R groups contains an oxy (-O-) group and the oxy and carbonyl groups are bonded to the same carbon atom. tmpxe7fu0cj_hp_relaxed.owl alpha-oxyketones chebi_ontology owl:Class HP:0032625 biolink:NamedThing Intratubular erythrocyte cast Casts that contain red blood cells and are located within the tubuli of the kidney. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0010819 biolink:NamedThing regulation of T cell chemotaxis Any process that modulates the rate, frequency or extent of T cell chemotaxis. T cell chemotaxis is the directed movement of a T cell in response to an external stimulus. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0008031 biolink:NamedThing Posterior Y-sutural cataract A type of sutural cataract in which the opacity follows the posterior Y suture. tmpxe7fu0cj_hp_relaxed.owl Posterior Y-sutural cataracts UMLS:C4021560 human_phenotype owl:Class HP:0010695 biolink:NamedThing Sutural cataract A type of congenital cataract in which the opacity follows the anterior or posterior Y suture. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023734 During lens terminal differentiation, the originally cuboidal lens vesicle cells elongate into long fiber-like cells, or fibers. Y-shaped sutures form because of how the lens epithelial cells proliferate during formation. The Y sutures demarcate the boundaries between the lens cortex, which is peripheral to the Y sutures, and the lens nucleus, which is within and includes the Y sutures. The anterior Y suture is oriented upright, and the posterior Y suture is inverted. peter 2010-03-20T12:07:04Z human_phenotype owl:Class HP:0000273 biolink:NamedThing Facial grimacing tmpxe7fu0cj_hp_relaxed.owl Facial grimacing UMLS:C0234853|SNOMEDCT_US:37126005 human_phenotype owl:Class HP:0032438 biolink:NamedThing Platelet anisocytosis Abnormally increased variability in the size of platelets. tmpxe7fu0cj_hp_relaxed.owl 2019-03-03 16:06:55+00:00 peter owl:Class HP:0033221 biolink:NamedThing Increased CD4:CD8 ratio An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells. tmpxe7fu0cj_hp_relaxed.owl 2020-10-29 11:06:41+00:00 peter owl:Class HP:0003474 biolink:NamedThing Somatic sensory dysfunction An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. tmpxe7fu0cj_hp_relaxed.owl Sensory impairment SNOMEDCT_US:59073000|SNOMEDCT_US:398026008|SNOMEDCT_US:397974008|MSH:D006987|UMLS:C0020580 This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia. HP:0100964 owl:Class HP:0025628 biolink:NamedThing Increased circulating myristoleate level An abnormally high concentration of myristoleate in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 00:31:41+00:00 HPO:probinson owl:Class UBERON:0002327 biolink:NamedThing trunk of intercostal nerve tmpxe7fu0cj_hp_relaxed.owl intercostal nerve trunk|intercostal neural trunk MA:0001176|EMAPA:37720|EMAPA:18227|FMA:85315 uberon owl:Class GO:0014872 biolink:NamedThing myoblast division The process resulting in the physical partitioning and separation of a myoblast into daughter cells. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class PATO:0000890 biolink:NamedThing male sterile A male fertility quality inhering in a male by virtue of the bearer's being incapable of initiating, sustaining, or supporting reproduction. tmpxe7fu0cj_hp_relaxed.owl male infertile quality owl:Class UBERON:0009482 biolink:NamedThing associated mesenchyme of foregut-midgut junction Mesenchyme that is part of a foregut-midgut junction. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0000570|EMAPA:16364 uberon owl:Class HP:0006520 biolink:NamedThing Progressive pulmonary function impairment tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849570 owl:Class HP:0004013 biolink:NamedThing Medially fused radial epiphyseal plates tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025445 human_phenotype owl:Class HP:0031569 biolink:NamedThing Absent aortic valve cusps A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva. tmpxe7fu0cj_hp_relaxed.owl Absent aortic valve 2017-09-29 23:21:20+00:00 Fyler:1484 peter owl:Class HP:0011920 biolink:NamedThing Transudative pleural effusion A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:79231000|MSH:D006876|UMLS:C0020312 Transudates result from imbalances in hydrostatic and oncotic forces and are caused by a limited number of recognized clinical conditions such as heart failure and cirrhosis. Less common causes include nephrotic syndrome, atelectasis, peritoneal dialysis, constrictive pericarditis, superior vena caval obstruction, and urinothorax. peter 2012-06-08T07:31:00Z human_phenotype owl:Class HP:0033605 biolink:NamedThing Pustular rash A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils. tmpxe7fu0cj_hp_relaxed.owl Pustulosis 2021-01-30 16:59:06+00:00 peter owl:Class HP:0012382 biolink:NamedThing Left-to-right shunt Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:66130006|UMLS:C0428870 peter 2013-10-16T11:54:21Z human_phenotype owl:Class HP:0040103 biolink:NamedThing Cutaneous stenosis of the external auditory canal tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022438 HPO:skoehler owl:Class NBO:0000327 biolink:NamedThing somatic sensation related behavior "Behavior related to the sensations arising from the skin and from the muscles, tendons, and joints." [OBP:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-04-05T11:01:08Z Sensations arising from the internal organs (the viscera), such as pain or the sense of fullness of the stomach or bladder, may therefore be included, although they are usually considered separately as visceral sensations. Pain arising from the viscera is often felt as though it comes from some part of the body surface or underlying tissue. George Gkoutos behavior_ontology owl:Class HP:0008668 biolink:NamedThing Gonadal dysgenesis, male Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation. tmpxe7fu0cj_hp_relaxed.owl 46,xy gonadal dysgenesis UMLS:C0018054|MSH:D006061 human_phenotype owl:Class HP:0000133 biolink:NamedThing Gonadal dysgenesis tmpxe7fu0cj_hp_relaxed.owl Pure gonadal dysgenesis|Mixed gonadal dysgenesis SNOMEDCT_US:83579008|MSH:D006060|SNOMEDCT_US:95219002|UMLS:C0687149|SNOMEDCT_US:38804009|MSH:D006059|SNOMEDCT_US:205681004|UMLS:C0018055|UMLS:C0018051 HP:0003243 human_phenotype owl:Class UBERON:0006913 biolink:NamedThing lip epithelium An epithelium that is part of a lip. tmpxe7fu0cj_hp_relaxed.owl BTO:0004468|ZFA:0005334|TAO:0005334 uberon owl:Class The thick, high squamous-stratified epithelium that covers the lips. It contains abundant melanocytes, many mucous cells and has well differentiated taste buds.[TAO] HP:0200032 biolink:NamedThing Kayser-Fleischer ring Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea. tmpxe7fu0cj_hp_relaxed.owl Fleischer-Kayser ring|Fleischer's ring|Fleischer-Struempell ring SNOMEDCT_US:77103006|UMLS:C0152457 sebastiankohler 2010-06-24T12:30:24Z human_phenotype owl:Class HP:0032555 biolink:NamedThing Bounding pulse Increased amplitude (strength) of the pulse. tmpxe7fu0cj_hp_relaxed.owl 2019-06-14 10:50:57+00:00 peter owl:Class GO:0019319 biolink:NamedThing hexose biosynthetic process The chemical reactions and pathways resulting in the formation of hexose, any monosaccharide with a chain of six carbon atoms in the molecule. tmpxe7fu0cj_hp_relaxed.owl hexose formation|hexose anabolism|hexose synthesis|hexose biosynthesis biological_process owl:Class HP:0006342 biolink:NamedThing Peg-shaped maxillary lateral incisors A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter tmpxe7fu0cj_hp_relaxed.owl Peg-shaped tooth|Pointed upper lateral incisors|Conoid upper lateral incisors|Peg laterals|Peg shaped upper lateral incisors|Conical maxillary lateral incisors|Cone shaped upper lateral incisors UMLS:C4025060 A peg shape appearance of a tooth occurs in lateral incisors only. A peg-shaped tooth is a microdont tooth and may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately. owl:Class HP:0001187 biolink:NamedThing Hyperextensibility of the finger joints The ability of the finger joints to move beyond their normal range of motion. tmpxe7fu0cj_hp_relaxed.owl Hyperextensible digits|Hyperextensible finger|Finger joint hyperextensibility|Hyperextensible fingers UMLS:C1844577 HP:0006158 human_phenotype owl:Class HP:0025402 biolink:NamedThing Square-wave jerks Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion. tmpxe7fu0cj_hp_relaxed.owl 2017-04-22 14:07:11+00:00 HPO:probinson owl:Class HP:0006180 biolink:NamedThing Crowded carpal bones tmpxe7fu0cj_hp_relaxed.owl Crowded wrist bones UMLS:C1863317 human_phenotype owl:Class HP:0045063 biolink:NamedThing Increased PIVKA-II Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells. tmpxe7fu0cj_hp_relaxed.owl Increased prothrombin induced by vitamin K absence-II UMLS:C1112467 PIVKA-II can be measured by enzyme-linked immunosorbent assay (ELISA). owl:Class HP:0002641 biolink:NamedThing Peripheral thrombosis tmpxe7fu0cj_hp_relaxed.owl Peripheral blood clot UMLS:C1849749 human_phenotype owl:Class HP:0410319 biolink:NamedThing Alpha-gal allergy Hypersensitivity in form of an adverse immune reaction against alpha-gal. tmpxe7fu0cj_hp_relaxed.owl Alpha-gal allergy|IgE-mediated alpha-gal allergy|Immunoglobulin E-mediated alpha-gal allergy|Allergy to alpha-gal owl:Class HP:0032432 biolink:NamedThing Increased HDL3c concentration An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:51:23+00:00 peter owl:Class HP:0010561 biolink:NamedThing Undulate ribs An abnormally wavy surface or edge of the ribs. tmpxe7fu0cj_hp_relaxed.owl Wavy ribs UMLS:C1969185 peter 2009-10-14T09:56:07Z human_phenotype owl:Class HP:0032977 biolink:NamedThing Elevated bronchoalveolar lavage fluid neutrophil proportion Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases. tmpxe7fu0cj_hp_relaxed.owl Elevated level of neutrophils in broncho-alveolar lavage fluid peter owl:Class HP:0031795 biolink:NamedThing Abnormal circulating glycerol level Any deviation from the normal concentration of glycerol in the blood. tmpxe7fu0cj_hp_relaxed.owl 2018-02-25 14:28:46+00:00 peter owl:Class HP:0032741 biolink:NamedThing Focal aware emotional seizure with paranoia Focal emotional seizure with paranoia in which awareness is retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033776 biolink:NamedThing Enamel pearls Small nodules of enamel on the root of a tooth. tmpxe7fu0cj_hp_relaxed.owl 2021-05-07 09:49:37+00:00 Enamel pearls can typically not be seen on X-rays but need direct visualization. The pearls can be present on the surface of the dentine or cement of deciduous teeth, with a frequency of 33% or on the roots of maxillary molars, with a frequency of 1.2%. peter owl:Class HP:0007987 biolink:NamedThing Progressive visual field defects tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024760 human_phenotype owl:Class HP:0000340 biolink:NamedThing Sloping forehead Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. tmpxe7fu0cj_hp_relaxed.owl Sloping forehead|Inclined forehead|Receding forehead|Posteriorly sloping forehead UMLS:C1857679 Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical. HP:0004480|HP:0008493|HP:0000351|HP:0008500 human_phenotype owl:Class HP:0031275 biolink:NamedThing Distributive shock A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 20:59:01+00:00 Distribute shock is caused by inadequate cardiac preload due to vasodilatation and vascular leakage. Etiologies include postoperative SIRS, sepsis, anaphylactic reaction. peter owl:Class HP:0001489 biolink:NamedThing Posterior vitreous detachment Separation of the vitreous humor from the retina. tmpxe7fu0cj_hp_relaxed.owl Vitreous detachment MSH:D020255|SNOMEDCT_US:247081001|UMLS:C0423361 The vitreous humour is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment. human_phenotype owl:Class GO:1902038 biolink:NamedThing positive regulation of hematopoietic stem cell differentiation Any process that activates or increases the frequency, rate or extent of hematopoietic stem cell differentiation. tmpxe7fu0cj_hp_relaxed.owl activation of hematopoietic stem cell differentiation|up-regulation of hemopoietic stem cell differentiation|upregulation of hematopoietic stem cell differentiation|positive regulation of hemopoietic stem cell differentiation|activation of haematopoietic stem cell differentiation|up-regulation of haematopoietic stem cell differentiation|upregulation of haemopoietic stem cell differentiation|up-regulation of hematopoietic stem cell differentiation|up-regulation of haemopoietic stem cell differentiation|positive regulation of haemopoietic stem cell differentiation|activation of hemopoietic stem cell differentiation|upregulation of haematopoietic stem cell differentiation|upregulation of hemopoietic stem cell differentiation|activation of haemopoietic stem cell differentiation|up regulation of haemopoietic stem cell differentiation|up regulation of hematopoietic stem cell differentiation|up regulation of hemopoietic stem cell differentiation|up regulation of haematopoietic stem cell differentiation|positive regulation of haematopoietic stem cell differentiation ss 2013-04-02T05:19:19Z biological_process owl:Class HP:0041062 biolink:NamedThing Transient decreased circulating IgG2 A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Transient decreased IgG2 in blood owl:Class HP:0033686 biolink:NamedThing Mitochondrial hypertrophy Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM. tmpxe7fu0cj_hp_relaxed.owl Megamitochondria 2021-03-07 22:44:15+00:00 peter owl:Class PR:P09581 biolink:NamedThing macrophage colony-stimulating factor 1 receptor (mouse) A macrophage colony-stimulating factor 1 receptor that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl CSF-1-R (mouse)|Fms|M-CSF-R (mouse)|Csf1r|CSF-1R (mouse)|Csfmr|proto-oncogene c-Fms (mouse)|mCSF1R|CSF-1 receptor (mouse)|CD115 (mouse) UniProtKB:P09581 Category=organism-gene. protein owl:Class GO:0071676 biolink:NamedThing negative regulation of mononuclear cell migration Any process that decreases the rate, frequency or extent of mononuclear cell migration. Mononuclear cell migration is the movement of a mononuclear cell within or between different tissues and organs of the body. tmpxe7fu0cj_hp_relaxed.owl downregulation of mononuclear cell migration|down-regulation of mononuclear cell migration|down regulation of mononuclear cell migration|inhibition of mononuclear cell migration mah 2010-02-16T02:13:55Z biological_process owl:Class HP:0007708 biolink:NamedThing Absent inner eyelashes tmpxe7fu0cj_hp_relaxed.owl Absent inner eyelashes UMLS:C4024812 human_phenotype owl:Class HP:0001997 biolink:NamedThing Gout Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. tmpxe7fu0cj_hp_relaxed.owl Gouty arthritis MSH:D006073|SNOMEDCT_US:48440001|MSH:D015210|SNOMEDCT_US:90560007|UMLS:C0018099|SNOMEDCT_US:190828008|SNOMEDCT_US:170733007|UMLS:C0003868 HP:0001368 human_phenotype owl:Class HP:0040270 biolink:NamedThing Impaired glucose tolerance An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. tmpxe7fu0cj_hp_relaxed.owl Glucose tolerance decreased|Decreased glucose tolerance UMLS:C0151671|MP:0005291 owl:Class HP:0005168 biolink:NamedThing Elevated right atrial pressure An abnormal increase in magnitude of the pressure in the right atrium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1867421 Elevated mean right atrial pressure (RAP) can be measured by cardiac catheterization. human_phenotype owl:Class HP:0005817 biolink:NamedThing Postaxial polysyndactyly of foot Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021824 human_phenotype owl:Class HP:0005780 biolink:NamedThing Absent fourth finger distal interphalangeal crease Absence of the distal interphalangeal flexion creases of the fourth finger. tmpxe7fu0cj_hp_relaxed.owl No fourth finger distal interphalangeal crease UMLS:C4021621 human_phenotype owl:Class CL:0002036 biolink:NamedThing Slamf1-positive multipotent progenitor cell A hematopoietic progenitor that has some limited self-renewal capability. Cells are lin-negative, Kit-positive, CD34-positive, and Slamf1-positive. tmpxe7fu0cj_hp_relaxed.owl KSL cell Markers are associated with mouse cells. tmeehan 2010-01-08T11:16:35Z cell owl:Class HP:0011589 biolink:NamedThing Common origin of the right brachiocephalic artery and left common carotid artery The left common carotid artery has a common origin with the innominate artery. tmpxe7fu0cj_hp_relaxed.owl Ovine arch|Common brachiocephalic trunk|Bovine arch SNOMEDCT_US:460890003|UMLS:C4020746|UMLS:C4021141|UMLS:C3532020 Commonly the three great vessels (innominate artery, left common carotid artery, and the left subclavian artery) originate from the arch of the aorta. The second most common variant of aortic arch branching occurs when the left common carotid artery has a common origin with the innominate artery. peter 2012-04-08T01:38:36Z human_phenotype owl:Class HP:0002965 biolink:NamedThing Cutaneous anergy Inability to react to a delayed hypersensitivity skin test. tmpxe7fu0cj_hp_relaxed.owl Lack of delayed skin hypersensitivity reaction|Absence of delayed hypersensitivity skin test UMLS:C1855781 Anergy skin testing assesses the responses to skin-test antigens to which a cell-mediated, delayed-type hypersensitivity (DTH) response is expected. HP:0005427 human_phenotype owl:Class CHEBI:35219 biolink:NamedThing plant growth retardant tmpxe7fu0cj_hp_relaxed.owl plant growth inhibitors|plant growth retardants|plant growth inhibitor CHEBI:26154|CHEBI:26156 chebi_ontology owl:Class HP:0005559 biolink:NamedThing Abnormality of the kinin-kallikrein system tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025178 peter 2008-03-27T10:34:00Z human_phenotype owl:Class HP:0010427 biolink:NamedThing Partial duplication of the middle phalanx of the 2nd toe Partial duplication of middle phalanx of second toe. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the middle bone of the 2nd toe UMLS:C4023832 doelkens 2009-07-16T12:58:18Z human_phenotype owl:Class HP:0010428 biolink:NamedThing Partial duplication of phalanx of the 2nd toe Partial duplication of a phalanx of second toe. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of 2nd toe bone UMLS:C4023831 doelkens 2009-07-16T04:07:33Z human_phenotype owl:Class HP:0410013 biolink:NamedThing Abnormality of the submandibular region Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073192 owl:Class HP:0033008 biolink:NamedThing Increased Z-disc width Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005). tmpxe7fu0cj_hp_relaxed.owl Widened z-discs|Increased Z-disk width The sarcomere is the basic contractile unit of striated muscle, and is composed of highly ordered thin (actin) filaments and thick (myosin) filaments. The cytoskeleton surrounding this elegant contractile molecular machinery is required as a scaffold to ensure efficiency of contraction. Longitudinally, sarcomeres are connected by Z-disk lattices that anchor thin filaments and transmit force along the myofibril. The strikingly regular lateral alignment of Z-disks between adjacent myofibrils ensures that during contraction myofibrils change length in unison, thus preventing damage to membrane systems that span between myofibrils and that are responsible for activating and relaxing the sarcomeres (T-tubules, sarcoplasmic reticulum). peter owl:Class HP:0011679 biolink:NamedThing Tetralogy of Fallot with pulmonary stenosis The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0344881|SNOMEDCT_US:253512000 peter 2012-04-10T07:44:06Z human_phenotype owl:Class HP:0005648 biolink:NamedThing Bilateral ulnar hypoplasia Underdevelopment of the ulna on both sides. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025166 May be a symmetric finding. human_phenotype owl:Class HP:0010547 biolink:NamedThing Muscle flaccidity A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0026825|MSH:D009123|SNOMEDCT_US:397488002|SNOMEDCT_US:186611004 peter 2009-09-29T09:21:45Z human_phenotype owl:Class HP:0003307 biolink:NamedThing Hyperlordosis Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine. tmpxe7fu0cj_hp_relaxed.owl Lordosis|Prominent swayback MSH:D008141|SNOMEDCT_US:61960001|UMLS:C0024003|SNOMEDCT_US:249710008 HP:0002939 human_phenotype owl:Class PR:Q61391 biolink:NamedThing neprilysin (mouse) A neprilysin that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl NEP (mouse)|atriopeptidase (mouse)|skin fibroblast elastase (mouse)|SFE (mouse)|Mme|neutral endopeptidase (mouse)|CD10 (mouse)|enkephalinase (mouse)|neutral endopeptidase 24.11 (mouse)|mMME UniProtKB:Q61391 Category=organism-gene. protein owl:Class HP:0008529 biolink:NamedThing Absence of acoustic reflex Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli. tmpxe7fu0cj_hp_relaxed.owl Absent middle ear reflexes|Absence of acoustic middle ear muscle reflexes UMLS:C1832834 Note that the acoustic reflex is also referred to as stapedius reflex, attenuation reflex, or auditory reflex. HP:0008595 human_phenotype owl:Class HP:0040121 biolink:NamedThing Abnormality of the acoustic reflex An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal middle-ear-muscles (MEM) reflex|Abnormal auditory reflex|Abnormality of stapedial reflex UMLS:C4022426 HPO:skoehler owl:Class HP:0006696 biolink:NamedThing Polymorphic and polytopic ventricular extrasystoles tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024998 human_phenotype owl:Class HP:0001900 biolink:NamedThing Increased hemoglobin tmpxe7fu0cj_hp_relaxed.owl Increased haemoglobin|Increased Hb UMLS:C0549448|SNOMEDCT_US:131141003 human_phenotype owl:Class HP:0000349 biolink:NamedThing Widow's peak Frontal hairline with bilateral arcs to a low point in the midline of the forehead. tmpxe7fu0cj_hp_relaxed.owl V-shaped frontal hairline|Hairline peak|Hairline point|Pointed hairline at front of head|Widow's peak|Pointed frontal hairline UMLS:C1853486 The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline. HP:0004544 owl:Class HP:0002549 biolink:NamedThing Deficit in phonologic short-term memory Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory tmpxe7fu0cj_hp_relaxed.owl Deficit in non-word repetition|Impaired non-word repetition UMLS:C1847609 owl:Class HP:0012136 biolink:NamedThing Dysplastic granulopoesis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023030 peter 2012-09-16T08:05:13Z human_phenotype owl:Class HP:0030914 biolink:NamedThing Abnormal peristalsis An anomaly of the wave-like muscle contractions of the digestive tract. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0025317 biolink:NamedThing Cubitus varus A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body. tmpxe7fu0cj_hp_relaxed.owl 2017-01-13 13:20:56+00:00 Normally, if the arm is held in full extension, the forearm is aligned in valgus with respect to the arm. A decrease in valgus with neutral alignment (loss of angulation) is called cubitus rectus, and a further decreases is called varus. Cubitus varus may be congenital (often progressive), or may be a complication of humerus fracture, trochlear osteonecrosis, and malunited intercondylar fracture. Radiographically, the metaphyseo-diaphyseal angle is normally 90 degrees. With cubitus varus, the angle is larger, with cubitus valgus, the angle is smaller. HPO:probinson owl:Class CHEBI:33253 biolink:NamedThing nucleon Heavy nuclear particle: proton or neutron. tmpxe7fu0cj_hp_relaxed.owl nucleon|Nukleon|Nukleonen|nucleons chebi_ontology owl:Class GO:1903580 biolink:NamedThing positive regulation of ATP metabolic process Any process that activates or increases the frequency, rate or extent of ATP metabolic process. tmpxe7fu0cj_hp_relaxed.owl upregulation of ATP metabolic process|upregulation of ATP metabolism|up-regulation of ATP metabolism|up-regulation of ATP metabolic process|activation of ATP metabolic process|activation of ATP metabolism|up regulation of ATP metabolic process|up regulation of ATP metabolism|positive regulation of ATP metabolism sl 2014-10-30T19:04:42Z biological_process owl:Class HP:0012212 biolink:NamedThing Abnormal glomerular filtration rate An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. tmpxe7fu0cj_hp_relaxed.owl Abnormal GFR UMLS:C0854050 Glomerular filtration, the first step in urine formation, is the passive process of ultrafiltration of plasma from blood into Bowman's space as it traverses the glomerular capillaries. Because GFR varies by body size, it is indexed relative to an average body surface area (BSA) of 1.73 m2 and expressed as ml/min/per 1.73 m2. GFR cannot be measured directly; it can be assessed from clearance measurements or estimated from serum levels of endogenous filtration markers, such as creatinine or cystatin C. Clearance measurements require either multiple measurements of serum concentrations or timed urine collections and are not routinely performed. GFR is usually estimated from serum concentrations of a marker of filtration using GFR estimating equations. peter 2013-03-14T07:49:53Z human_phenotype owl:Class HP:0031083 biolink:NamedThing Abnormal response to human chorionic gonadotrophin stimulation test An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors. tmpxe7fu0cj_hp_relaxed.owl Abnormal response to hCG stimulation test 2017-05-28 23:53:03+00:00 peter owl:Class CL:0002019 biolink:NamedThing Ly-76 high reticulocyte A reticulocyte that is Ly76-high and is Kit-negative. tmpxe7fu0cj_hp_relaxed.owl Marker associated with mouse cells. tmeehan 2010-04-26T11:37:00Z cell owl:Class HP:0033252 biolink:NamedThing Palmar hyperlinearity Exaggerated skin markings (dermatoglyphics) on the palms of the hand. tmpxe7fu0cj_hp_relaxed.owl 2020-11-27 19:22:53+00:00 peter owl:Class HP:0012088 biolink:NamedThing Abnormal urinary odor A deviation from the normal odor of the urine. tmpxe7fu0cj_hp_relaxed.owl Abnormal urine smell|Abnormal urinary odor|Abnormal urinary odour SNOMEDCT_US:8769003|UMLS:C0278045 Urine does not usually have a strong smell, but the odor may be altered by a number of factors including some diseases. Foul-smelling urine may be due to bacteria that have caused a urinary tract infection. Sweet-smelling urine may be a sign of uncontrolled diabetes or more rarely a disease of metabolism. Liver disease and certain metabolic disorders may cause musty-smelling urine. peter 2012-08-20T09:13:26Z human_phenotype owl:Class HP:0100440 biolink:NamedThing Bullet-shaped distal phalanx of the 3rd toe An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped outermost bone of the 3rd toe UMLS:C4022087 human_phenotype owl:Class HP:0030988 biolink:NamedThing Granulomatous cholangitis Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts. tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 13:35:48+00:00 Granulomatous cholangitis involving the interlobular bile ducts constitutes the hallmark of primary biliary cholangitis and is also found in drug-induced liver disease and sarcoidosis. peter owl:Class HP:0009789 biolink:NamedThing Perianal abscess The presence of an abscess located around the anus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0031019|SNOMEDCT_US:82127005 peter 2009-02-03T05:19:42Z human_phenotype owl:Class HP:0007227 biolink:NamedThing Macrogyria Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum. tmpxe7fu0cj_hp_relaxed.owl MSH:D054082|UMLS:C0266483|SNOMEDCT_US:23024003 human_phenotype owl:Class UBERON:0000429 biolink:NamedThing enteric plexus A plexus of autonomic nerve fibers within the wall of the digestive tube, and made up of the submucosal, myenteric, and subserosal plexuses; it contains visceral afferent fibers, sympathetic postganglionic fibers, parasympathetic preganglionic and postganglionic fibers, and parasympathetic postganglionic cell bodies. tmpxe7fu0cj_hp_relaxed.owl enteric nerve plexus|plexus nervosus entericus|intrinsic nerve plexus|plexus entericus|sympathetic enteric nerve plexus EMAPA:35446|MA:0001147|BTO:0002437|FMA:77597 UBERON:0012372 uberon owl:Class HP:0031356 biolink:NamedThing Terminal insomnia A type of insomnia characterized by waking up (too) early in the morning. tmpxe7fu0cj_hp_relaxed.owl Late insomnia 2017-08-27 15:04:51+00:00 peter owl:Class HP:0005151 biolink:NamedThing Preductal coarctation of the aorta Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch. tmpxe7fu0cj_hp_relaxed.owl Proximal aortic coarctation SNOMEDCT_US:13867009|UMLS:C0265878 Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues. human_phenotype owl:Class HP:0000717 biolink:NamedThing Autism Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). tmpxe7fu0cj_hp_relaxed.owl Autism UMLS:C0004352|SNOMEDCT_US:408857007|SNOMEDCT_US:43614003|MSH:D001321|SNOMEDCT_US:408856003 The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism. human_phenotype owl:Class HP:0030555 biolink:NamedThing Best corrected visual acuity 0.2 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073028 owl:Class HP:0032256 biolink:NamedThing Histoplasmosis Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 18:10:09+00:00 Most patients exhibit pulmonary signs and symptoms, accompanied by radiographic abnormalities, which often are mistaken for community-acquired pneumonia caused by bacterial or viral agents. Most of the infected individuals remain asymptomatic or have very mild illness that does not get diagnosed as histoplasmosis. Significant symptoms develop in less than 1% of patients and most frequently present as pulmonary or disseminated histoplasmosis. Immunocompromised individuals, including patients with AIDS, hematologic malignancies, transplant recipients, and patients receiving prolonged steroids, are at higher risk of developing acute disseminated disease with a rapid and aggressive course. peter owl:Class HP:0004609 biolink:NamedThing Patchy distortion of vertebrae tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025305 human_phenotype owl:Class GO:1904934 biolink:NamedThing negative regulation of cell proliferation in midbrain Any process that stops, prevents or reduces the frequency, rate or extent of cell proliferation in midbrain. tmpxe7fu0cj_hp_relaxed.owl down regulation of mesencepahalic cell proliferation|down regulation of cell proliferation in mesencephalon|negative regulation of mesencepahalic cell proliferation|downregulation of cell proliferation in midbrain|downregulation of cell proliferation in mesencephalon|downregulation of mesencepahalic cell proliferation|down-regulation of mesencepahalic cell proliferation|inhibition of mesencepahalic cell proliferation|inhibition of cell proliferation in midbrain|down-regulation of cell proliferation in mesencephalon|down-regulation of cell proliferation in midbrain|inhibition of cell proliferation in mesencephalon|down regulation of cell proliferation in midbrain|negative regulation of cell proliferation in mesencephalon bf 2016-02-01T13:16:19Z biological_process owl:Class HP:0100864 biolink:NamedThing Short femoral neck An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). tmpxe7fu0cj_hp_relaxed.owl Short neck of thighbone|Short femoral necks|Hypoplasia of the femoral neck|Hypoplastic femoral neck UMLS:C1836184 doelkens 2011-11-30T10:48:34Z HP:0003032|HP:0008793|HP:0008779 human_phenotype owl:Class HP:0001548 biolink:NamedThing Overgrowth Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. tmpxe7fu0cj_hp_relaxed.owl General overgrowth|Generalized overgrowth|Generalised overgrowth UMLS:C1851731|UMLS:C3150281|UMLS:C1849265 owl:Class UBERON:0002489 biolink:NamedThing coronal suture The dense, fibrous connective tissue joint between the tetrapod parietal bones and the frontal bone. tmpxe7fu0cj_hp_relaxed.owl sutura coronalis|fronto-parietal suture|coronal suture of skull|frontoparietal suture EMAPA:19225|FMA:52928|OpenCyc:Mx4rv2eGHZwpEbGdrcN5Y29ycA|MA:0002795 Gray188-Coronal:suture.png uberon owl:Class HP:0004835 biolink:NamedThing Microspherocytosis The presence of erythrocytes that are sphere-shaped and reduced in size. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025285 human_phenotype owl:Class HP:0004444 biolink:NamedThing Spherocytosis The presence of erythrocytes that are sphere-shaped. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:17235000|UMLS:C0553720 Erythrocytes are normally biconcave rather than spherical. peter 2008-03-18T10:05:00Z HP:0004816 human_phenotype owl:Class HP:0006358 biolink:NamedThing Shovel-shaped maxillary central incisors A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces. tmpxe7fu0cj_hp_relaxed.owl Shovel tooth|Shovel-shaped upper front teeth UMLS:C1833168 owl:Class HP:0040151 biolink:NamedThing Epiblepharon of lower lid tmpxe7fu0cj_hp_relaxed.owl MSH:C565051|UMLS:C1851583 HPO:skoehler owl:Class HP:0003168 biolink:NamedThing Dibasicaminoaciduria An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025643 owl:Class HP:0003359 biolink:NamedThing Decreased urinary sulfate Decreased concentration of sulfate in the urine. tmpxe7fu0cj_hp_relaxed.owl Decreased urinary sulphate|Decreased urinary sulfate UMLS:C1848958 human_phenotype owl:Class HP:0032834 biolink:NamedThing Neonatal seizure with unilateral automatism Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032532 biolink:NamedThing Elevated CSF 4-hydroxybutyric acid concentration Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl Elevated CSF gamma-hydroxybutyric acid|Elevated CSF GHB levels 2019-05-27 13:00:12+00:00 peter owl:Class HP:0030221 biolink:NamedThing Sweet craving Excessive desire to eat sweet foods. tmpxe7fu0cj_hp_relaxed.owl Sweet craving UMLS:C0241314 owl:Class CHEBI:78803 biolink:NamedThing nematode metabolite An animal metabolite produced by any member of the phylum Nematoda. tmpxe7fu0cj_hp_relaxed.owl nematode metabolites chebi_ontology owl:Class HP:0012536 biolink:NamedThing Maternal anticardiolipin antibody positive The presence of circulating autoantibodies to anticardiolipin in the mother. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022860 There have been reports of cerebral infarction in a newborns in association with elevated maternal anticardiolipin antibodies. peter 2013-12-15T10:20:51Z human_phenotype owl:Class HP:0011437 biolink:NamedThing Maternal autoimmune disease A medical history of a fetus or child born to a mother with an autoimmune disease. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023358 Maternal autoimmune diseases with potential adverse effects for the fetus include autoimmune forms of hyperthyroidism and hypothyroidism, myasthenia gravis, systemic lupus erythematodes, and autoimmune forms of thrombocytopenia. peter 2012-03-17T07:54:31Z human_phenotype owl:Class UBERON:0003900 biolink:NamedThing epaxial myotome region Portion of myotome that is dorsal to the horizontal septum. tmpxe7fu0cj_hp_relaxed.owl epaxial myotome regions ZFA:0001084|TAO:0001084 uberon owl:Class HP:0100423 biolink:NamedThing Partial duplication of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the innermost bone of 4th toe UMLS:C4022103 human_phenotype owl:Class HP:0031217 biolink:NamedThing Hot flashes Sudden feelings of warmth that are generally most pronounced over the face, neck and chest. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 11:38:24+00:00 Hot flashes are most commonly due to menopause but may be observed with other conditions. peter owl:Class HP:0010454 biolink:NamedThing Acetabular spurs The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3808270 peter 2009-09-14T11:15:40Z human_phenotype owl:Class HP:0007470 biolink:NamedThing Periarticular subcutaneous nodules Subcutaneous nodules that are located in the vicinity of joints. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3806306 human_phenotype owl:Class HP:0003049 biolink:NamedThing Ulnar deviation of the wrist tmpxe7fu0cj_hp_relaxed.owl Ulnar deviation of wrists SNOMEDCT_US:43689004|UMLS:C0231678 human_phenotype owl:Class HP:0032768 biolink:NamedThing Focal aware autonomic seizure with pupillary dilation/constriction A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0014464 biolink:NamedThing renal fat pad Encapsulated adipose tissue associated with the kidney. tmpxe7fu0cj_hp_relaxed.owl perirenal fat pad uberon owl:Class HP:0000180 biolink:NamedThing Lobulated tongue Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. tmpxe7fu0cj_hp_relaxed.owl Bumpy tongue|Lobulate tongue|Lingual lobules SNOMEDCT_US:253752000|UMLS:C0431564 Lobulated tongue can bilobed, trilobed, or show multiple lobes. human_phenotype owl:Class HP:0033278 biolink:NamedThing Reduced CD95-induced lymphocyte apoptosis Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 17:19:21+00:00 peter owl:Class HP:0006782 biolink:NamedThing Malignant eosinophil proliferation tmpxe7fu0cj_hp_relaxed.owl MSH:C565054|UMLS:C1851585 human_phenotype owl:Class HP:0003740 biolink:NamedThing Myotonia with warm-up phenomenon Myotonia that occurs after a period of rest and decreases with continuing exercise. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025575 human_phenotype owl:Class HP:0032492 biolink:NamedThing Anti-myelin oligodendrocyte glycoprotein antibody positivity Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein. tmpxe7fu0cj_hp_relaxed.owl Anti-MOG antibody positivity 2019-04-12 10:32:12+00:00 Myelin oligodendrocyte glycoprotein (MOG), a member of the immunoglobulin (Ig) superfamily, is a myelin protein solely expressed at the outermost surface of myelin sheaths and oligodendrocyte membranes. MOG Abs can be found in a subset of predominantly pediatric patients with acute disseminated encephalomyelitis, aquaporin-4 seronegative neuromyelitis optica spectrum disorders, monophasic or recurrent isolated optic neuritis, or transverse myelitis, in atypical multiple sclerosis, and in N-methyl-d-aspartate receptor-encephalitis. peter owl:Class HP:0001126 biolink:NamedThing Cryptophthalmos Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:400951005|UMLS:C0311249 Failure of eyelid formation. Crypopthalmos is typically associated with a rudimentary or small globe. Frequently, a tuft of hair accompanies the aberrant skin. HP:0008032 human_phenotype owl:Class HP:0041116 biolink:NamedThing Fractured left clavicle A partial or complete breakage of the left clavicle. tmpxe7fu0cj_hp_relaxed.owl bone left clavicle owl:Class HP:0031177 biolink:NamedThing Finger flexor weakness Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion. tmpxe7fu0cj_hp_relaxed.owl 2017-06-18 20:25:24+00:00 peter owl:Class HP:0030064 biolink:NamedThing Neurocytoma A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1622510|MSH:D018306|SNOMEDCT_US:128858006 Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. owl:Class HP:0005021 biolink:NamedThing Bilateral elbow dislocations tmpxe7fu0cj_hp_relaxed.owl Dislocated elbows on both sides UMLS:C3278429 human_phenotype owl:Class HP:0000943 biolink:NamedThing Dysostosis multiplex tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:254069004|MSH:D008059|UMLS:C0086795|SNOMEDCT_US:65327002 HP:0002760 human_phenotype owl:Class HP:0012713 biolink:NamedThing Moderate hearing impairment The presence of a moderate form of hearing impairment. tmpxe7fu0cj_hp_relaxed.owl Moderate hearing impairment UMLS:C4022757 peter 2014-03-23T12:35:59Z human_phenotype owl:Class HP:0010103 biolink:NamedThing Short distal phalanx of hallux Underdevelopment (hypoplasia) of the distal phalanx of big toe. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic/small distal phalanx of the hallux|Small distal phalanx of big toe|Small distal phalanx of hallux|Small outermost bone of big toe UMLS:C4021335 doelkens 2009-05-29T12:41:37Z human_phenotype owl:Class HP:0006771 biolink:NamedThing Duodenal adenocarcinoma A malignant epithelial tumor with a glandular organization that originates in the duodenum. tmpxe7fu0cj_hp_relaxed.owl Duodenal cancer NCIT:C2852|SNOMEDCT_US:254570009|SNOMEDCT_US:408644002|UMLS:C0278804|UMLS:C0541912|MSH:D004379 human_phenotype owl:Class HP:0033323 biolink:NamedThing Glomerular capillary wall duplication with cellular interposition Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 14:01:35+00:00 peter owl:Class HP:0040112 biolink:NamedThing Abnormal number of tubercles tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022431 HPO:skoehler owl:Class HP:0008458 biolink:NamedThing Progressive congenital scoliosis A progressive form of scoliosis with congenital onset. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857025 human_phenotype owl:Class HP:0100198 biolink:NamedThing Pseudoepiphysis of the proximal phalanx of the 4th toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fourth toe. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022223 doelkens 2010-06-24T04:54:59Z owl:Class HP:0033105 biolink:NamedThing Interhypothalamic Adhesion An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle. tmpxe7fu0cj_hp_relaxed.owl Hypothalamic adhesion 2020-08-29 11:25:49+00:00 The appearance of the interhypothalamic adhesions visible in the sagittal plane as an additional small ovoid structure between the fornices and lamina terminalis, centered near the level of the midbrain cranial margin. Anatomically, this location corresponds to the anterior and tuberalis regions of the periventricular hypothalamus. peter owl:Class HP:0011312 biolink:NamedThing Fused nails A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature. tmpxe7fu0cj_hp_relaxed.owl Fused nails UMLS:C4023419 The use of the word "fused" is not meant to imply that pathogenetically these nails were separate and merged. This is distinct from a split or cleaved nail, where the two parts of the nails share the same radius of curvature. The involved digits should be specified. It may be associated with underlying syndactylous digits, but these are coded separately. hecht 2012-02-12T01:12:22Z human_phenotype owl:Class HP:0004001 biolink:NamedThing Medially deficient radial epiphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025456 human_phenotype owl:Class HP:0000128 biolink:NamedThing Renal potassium wasting High urine potassium in the presence of hypokalemia. tmpxe7fu0cj_hp_relaxed.owl Renal K wasting UMLS:C1846348 A urine potassium assay can be used to determine the cause of reduced serum potassium (hypokalemia). Normally, the kidney will reabsorb more potassium in the presence of hypokalemia. Therefore, a low urine potassium can suggest gastrointestinal potassium loss, poor dietary intake, or a shift of potassium from the extracellular to the intracellular space. On the other hand, a high urine potassium in the face of low serum potassium indicated renal loss, referred to as renal potassium wasting. human_phenotype owl:Class HP:0012628 biolink:NamedThing Abnormal suspensory ligament of lens morphology An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the suspensory ligament of lens|Zonule of zinn abnormality|Ciliary zonule abnormality|Abnormality of zinn's membrane UMLS:C4021077 peter 2014-01-17T10:59:37Z human_phenotype owl:Class HP:0032817 biolink:NamedThing Neonatal focal myoclonic seizure Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0410348 biolink:NamedThing Increased urinary multiantennary sialylated oligosaccharide An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine. tmpxe7fu0cj_hp_relaxed.owl Increase concentration of multiantennary sialylated oligosaccharides in urine owl:Class GO:0021620 biolink:NamedThing hypoglossal nerve formation The process that gives rise to the hypoglossal nerve. This process pertains to the initial formation of a structure from unspecified parts. This motor nerve innervates all the intrinsic and all but one of the extrinsic muscles of the tongue. tmpxe7fu0cj_hp_relaxed.owl CN XII formation|CN XII biosynthesis biological_process owl:Class HP:0003985 biolink:NamedThing Exostoses of the ulna tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025464 human_phenotype owl:Class HP:0009596 biolink:NamedThing Aplasia of the proximal phalanx of the 2nd finger Absence of the proximal phalanx of the 2nd finger. tmpxe7fu0cj_hp_relaxed.owl Absent innermost bone of index finger UMLS:C4024275 doelkens 2009-01-29T10:19:36Z human_phenotype owl:Class HP:0004860 biolink:NamedThing Thiamine-responsive megaloblastic anemia A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine. tmpxe7fu0cj_hp_relaxed.owl Thiamine-responsive megaloblastic anaemia UMLS:C0271972|SNOMEDCT_US:12907000 human_phenotype owl:Class UBERON:0016462 biolink:NamedThing periorbital skin A zone of skin in the periorbital region of the face. tmpxe7fu0cj_hp_relaxed.owl skin of orbital part of face FMA:59350|EMAPA:37937 uberon owl:Class UBERON:0004430 biolink:NamedThing proximal epiphysis of fourth metatarsal bone A proximal epiphysis that is part of a metatarsal bone of digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of fourth metatarsal bone|proximal end of fourth metatarsal bone|proximal epiphysis of metatarsal 4 FMA:42966 uberon owl:Class HP:0031965 biolink:NamedThing Increased RBC distribution width Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage. tmpxe7fu0cj_hp_relaxed.owl Increased red blood cell distribution width 2018-07-07 14:42:53+00:00 Although RDW has been traditionally used in the investigation of the etiology of anemia there is an increasing evidence linking elevated RDW with poor outcome in general population [4, 5], in patients with coronary artery disease, with metabolic syndrome and heart failure. peter owl:Class HP:0034067 biolink:NamedThing Tonofilament clumping Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes. tmpxe7fu0cj_hp_relaxed.owl Clumping of the keratin tonofilaments 2021-12-18 14:25:21+00:00 peter owl:Class HP:0004396 biolink:NamedThing Poor appetite A reduced desire to eat. tmpxe7fu0cj_hp_relaxed.owl Poor appetite|No appetite|Decreased appetite|Loss of appetite UMLS:C0232462|SNOMEDCT_US:64379006 peter 2008-03-18T09:12:00Z owl:Class HP:0003919 biolink:NamedThing Sclerotic humeral metaphysis with longitudinal striations tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025508 human_phenotype owl:Class HP:0001747 biolink:NamedThing Accessory spleen An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. tmpxe7fu0cj_hp_relaxed.owl Fyler:4772|UMLS:C0266631|SNOMEDCT_US:10362008 human_phenotype owl:Class CHEBI:50503 biolink:NamedThing laxative An agent that produces a soft formed stool, and relaxes and loosens the bowels, typically used over a protracted period, to relieve constipation. Compare with cathartic, which is a substance that accelerates defecation. A substances can be both a laxative and a cathartic. tmpxe7fu0cj_hp_relaxed.owl aperient|purgative|laxante|purgatives|aperients|laxatives chebi_ontology owl:Class UBERON:0004997 biolink:NamedThing mucosa of pyloric antrum A mucosa that is part of a pyloric antrum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucosa of organ of antrum of stomach|antrum of stomach mucosa of organ|pyloric antrum mucosa|mucous membrane of pyloric antrum|mucous membrane of antrum of stomach|stomach pyloric antrum mucosa of organ|mucosa of antrum of stomach|organ mucosa of antrum of stomach|gastric antrum mucosa|antrum of stomach mucosa|mucosa of organ of pyloric antrum|pyloric antrum organ mucosa|stomach pyloric antrum mucous membrane|mucosa of organ of stomach pyloric antrum|mucous membrane of stomach pyloric antrum|antrum of stomach organ mucosa|stomach pyloric antrum organ mucosa|pyloric antrum mucous membrane|mucosa of stomach pyloric antrum|organ mucosa of pyloric antrum|antrum of stomach mucous membrane|organ mucosa of stomach pyloric antrum|antral mucosa|pyloric antrum mucosa of organ|stomach pyloric antrum mucosa BTO:0004107|FMA:17055 uberon owl:Class HP:0040238 biolink:NamedThing Impaired neutrophil chemotaxis An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response tmpxe7fu0cj_hp_relaxed.owl Neutrophil migratory defect UMLS:C4280709 This term has been requested and created by members of the BRIDGE consortium owl:Class HP:0031605 biolink:NamedThing Abnormality of fundus pigmentation Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve. tmpxe7fu0cj_hp_relaxed.owl 2017-12-01 11:02:43+00:00 Alterations in pigmentation of the fundus are typically not a result of changes in the retina. The variable pigmentation within both RPE and choroid combine to change profoundly the appearance of the normal fundus between individuals. This is partly a racial characteristic and partly genetic. peter owl:Class HP:0031708 biolink:NamedThing Compensatory face turn to the left A tendency to turn the face to the left to compensate for a limitation of eye movement. tmpxe7fu0cj_hp_relaxed.owl 2017-12-18 00:30:18+00:00 With a sixth cranial nerve palsy there is a weakened lateral rectus muscule and the affected patient will often turn the head towards the affected eye. peter owl:Class HP:0005428 biolink:NamedThing Severe recurrent varicella tmpxe7fu0cj_hp_relaxed.owl UMLS:C1833487|MSH:C563458 human_phenotype owl:Class PATO:0002327 biolink:NamedThing increased angle to An angle which is relatively high. tmpxe7fu0cj_hp_relaxed.owl 2011-11-23T12:06:38Z quality owl:Class HP:0000111 biolink:NamedThing Renal juxtaglomerular cell hypertrophy/hyperplasia Increased number and size of the juxtaglomerular cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866496 human_phenotype owl:Class HP:0100562 biolink:NamedThing Diplomyelia Duplication of the spinal cord. tmpxe7fu0cj_hp_relaxed.owl Duplication of spinal cord UMLS:C1260890|SNOMEDCT_US:360527003 doelkens 2010-12-21T04:35:22Z human_phenotype owl:Class HP:0012016 biolink:NamedThing EEG with occipital focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023075 hecht 2012-07-20T12:02:28Z human_phenotype owl:Class HP:0002653 biolink:NamedThing Bone pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. tmpxe7fu0cj_hp_relaxed.owl Bone pain SNOMEDCT_US:12584003|UMLS:C0151825 human_phenotype owl:Class GO:0033343 biolink:NamedThing positive regulation of collagen binding Any process that activates or increases the frequency, rate or extent of collagen binding. tmpxe7fu0cj_hp_relaxed.owl up-regulation of collagen binding|up regulation of collagen binding|upregulation of collagen binding|stimulation of collagen binding|activation of collagen binding biological_process owl:Class UBERON:0003706 biolink:NamedThing laryngeal vocal fold Either of two pairs of folds of mucous membrane projecting into the larynx. tmpxe7fu0cj_hp_relaxed.owl vocal cord|vocal fold|true vocal cord|plica vocalis|vocal chord|vocal band UMLS:C0042930|EMAPA:19181|OpenCyc:Mx4rvVieepwpEbGdrcN5Y29ycA|GAID:344|NCIT:C12822|BTO:0005084|FMA:55457|MESH:D014827 we follow FMA in modeling this is mucous membrane plus ligament uberon owl:Class HP:0000852 biolink:NamedThing Pseudohypoparathyroidism A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone. tmpxe7fu0cj_hp_relaxed.owl MSH:D011547|UMLS:C0033806|SNOMEDCT_US:58976002 human_phenotype owl:Class HP:0006765 biolink:NamedThing Chondrosarcoma A slowly growing malignant neoplasm derived from cartilage cells. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:14990007|UMLS:C0008479|SNOMEDCT_US:443520009|NCIT:C2946|MSH:D002813 human_phenotype owl:Class PR:Q06278 biolink:NamedThing aldehyde oxidase (human) An aldehyde oxidase that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl hAOX1|AO|azaheterocycle hydroxylase (human)|aldehyde oxidase 1 (human)|AOX1 Reactome:R-HSA-3204326|UniProtKB:Q06278 Category=organism-gene. protein owl:Class PR:000004089 biolink:NamedThing aldehyde oxidase A protein that is a translation product of the human AOX1 gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl AOX1|retinal oxidase|AO|Ro Category=gene. protein owl:Class HP:0030267 biolink:NamedThing Calcification of the interosseus membrane of the forearm Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022549 owl:Class HP:0009743 biolink:NamedThing Distichiasis Double rows of eyelashes. tmpxe7fu0cj_hp_relaxed.owl Distichiasis of eyelid eyelashes UMLS:C0423848|SNOMEDCT_US:95339000 Distichiasis can be defined as the abnormal growth of lashes from the orifices of the Meibomian glands on the posterior lamella of the tarsal plate, resulting in a double row of eyelashes. peter 2009-01-31T02:07:50Z human_phenotype owl:Class HP:0033093 biolink:NamedThing Increased glutamine family amino acid level in urine An elevated level of an glutamine family amino acid in the urine. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0031424 biolink:NamedThing Abnormal circulating beta-C-terminal telopeptide level A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover. tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating beta-CTx level|Abnormal circulating beta-CrossLaps level 2017-09-16 11:18:31+00:00 peter owl:Class HP:0031439 biolink:NamedThing Abnormal angiostatin level A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 12:31:51+00:00 Angiostatin is an internal fragment of plasminogen that specifically inhibits endothelial cell proliferation and migration, and by promoting endothelial apoptosis. peter owl:Class CL:0000295 biolink:NamedThing somatotropin secreting cell A peptide hormone secreting cell that produces growth hormone, somatotropin. tmpxe7fu0cj_hp_relaxed.owl growth hormone secreting cell|somatotrophin secreting cell CL:0000471 cell owl:Class HP:0020038 biolink:NamedThing Vertebrobasilar dolichoectasia Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm. tmpxe7fu0cj_hp_relaxed.owl 2017-10-13 12:54:00+00:00 The basilar artery arises from the confluence of the two vertebral arteries. robinp owl:Class HP:0004122 biolink:NamedThing Midline defect of the nose This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. tmpxe7fu0cj_hp_relaxed.owl Central defect of nose|Midline defect of the nose|Central cleft of nose|Midline nasal defect|Midline cleft of nose|Central nasal defect UMLS:C4025411|UMLS:C4280539 peter 2009-01-21T04:59:54Z HP:0003190 human_phenotype owl:Class CHEBI:61360 biolink:NamedThing globoside Any glycosphingolipid where the oligosaccharide component has an N-acetylgalactosaminyl residue at the non-reducing end. tmpxe7fu0cj_hp_relaxed.owl globosides Wikipedia:Globoside chebi_ontology owl:Class HP:0100820 biolink:NamedThing Glomerulopathy Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. tmpxe7fu0cj_hp_relaxed.owl Diseased glomeruli SNOMEDCT_US:197679002|UMLS:C0268731 doelkens 2011-06-09T04:59:55Z human_phenotype owl:Class HP:0031618 biolink:NamedThing Anterior chamber flare grade 1+ Faint anterior chamber flare. tmpxe7fu0cj_hp_relaxed.owl 2017-12-16 13:29:05+00:00 peter owl:Class HP:0002050 biolink:NamedThing Macroorchidism, postpubertal tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839782 human_phenotype owl:Class HP:0033840 biolink:NamedThing Postmenopausal bleeding Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy. tmpxe7fu0cj_hp_relaxed.owl 2021-05-30 15:51:38+00:00 peter owl:Class HP:0030711 biolink:NamedThing Hydrocolpos Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1399870|MSH:D052202 This term is distinct from Hydrometrocolpos (HP:0030010), which indicates additional uterine dilation. owl:Class HP:0031674 biolink:NamedThing Antidromic atrioventricular reentrant tachycardia A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction. tmpxe7fu0cj_hp_relaxed.owl Antidromic AVRT 2017-12-17 16:57:22+00:00 peter owl:Class HP:0012281 biolink:NamedThing Chylous ascites Extravasation of chyle into the peritoneal cavity. tmpxe7fu0cj_hp_relaxed.owl Chyloperitoneum UMLS:C0008732|MSH:D002915|SNOMEDCT_US:52985009 peter 2013-04-07T04:08:42Z human_phenotype owl:Class CHEBI:46662 biolink:NamedThing mineral tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0008559 biolink:NamedThing Hypoplastic superior helix tmpxe7fu0cj_hp_relaxed.owl Underdeveloped superior helices UMLS:C1865305 HP:0008627 human_phenotype owl:Class HP:0033475 biolink:NamedThing Limited shoulder abduction Decreased ability to move the arm away from the midline of the body. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:47:42+00:00 peter owl:Class PATO:0001450 biolink:NamedThing edematous A structural quality which is held by a bearer when the latter exhibits an excessive accumulation of extracellular fluid. tmpxe7fu0cj_hp_relaxed.owl oedema|oedematous|oedemic|edemic|edema quality owl:Class HP:0000564 biolink:NamedThing Lacrimal duct atresia A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. tmpxe7fu0cj_hp_relaxed.owl Unopened tear duct|Nasolacrimal duct atresia|Imperforate nasolacrimal ducts UMLS:C0344511|SNOMEDCT_US:278530008 HP:0007729 human_phenotype owl:Class GO:0042401 biolink:NamedThing cellular biogenic amine biosynthetic process The chemical reactions and pathways occurring at the level of individual cells resulting in the formation of any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters. tmpxe7fu0cj_hp_relaxed.owl biogenic amine anabolism|biogenic amine biosynthesis|biogenic amine synthesis|biogenic amine formation biological_process owl:Class HP:0008897 biolink:NamedThing Postnatal growth retardation Slow or limited growth after birth. tmpxe7fu0cj_hp_relaxed.owl Postnatal growth deficiency|Postnatal growth deceleration|Postnatal growth failure|Growth retardation as children|Growth delay as children UMLS:C1859778 HP:0008844|HP:0008865|HP:0008901|HP:0008918|HP:0008868 human_phenotype owl:Class GO:0003165 biolink:NamedThing Purkinje myocyte development The process whose specific outcome is the progression of a Purkinje myocyte over time, from its formation to the mature structure. The Purkinje myocyte (also known as cardiac Purkinje fiber) is part of the cardiac conduction system that receives signals from the bundle of His and innervates the ventricular cardiac muscle. tmpxe7fu0cj_hp_relaxed.owl cardiac Purkinje fiber development dph 2009-10-01T02:07:50Z biological_process owl:Class HP:0000437 biolink:NamedThing Depressed nasal tip Decreased distance from the nasal tip to the nasal base. tmpxe7fu0cj_hp_relaxed.owl Flat tip of nose|Depressed tip of nose|Retruded tip of nose|Caved in nasal tip|Depressed nasal tip|Nasal tip, depressed|Flat nasal tip|Flattened nasal tip|Nasal tip, recessed|Nasal tip, retruded UMLS:C1859717 This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately. HP:0005279 human_phenotype owl:Class HP:0030749 biolink:NamedThing Grade II preterm intraventricular hemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle. tmpxe7fu0cj_hp_relaxed.owl Grade II preterm intraventricular haemorrhage UMLS:C4280788 owl:Class HP:0009084 biolink:NamedThing Midline notch of upper alveolar ridge tmpxe7fu0cj_hp_relaxed.owl Midline notch of maxillary alveolar ridge|Midline notch of maxillary alveolar process|Midline cleft of upper alveolar ridge|Midline cleft of maxillary alveolar process|Midline notch of upper gum ridge UMLS:C1851853 human_phenotype owl:Class HP:0030751 biolink:NamedThing Grade IV preterm intraventricular hemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension. tmpxe7fu0cj_hp_relaxed.owl Grade IV preterm intraventricular haemorrhage UMLS:C4280786 owl:Class MAXO:0000726 biolink:NamedThing hysterosonography A procedure, also known as sonohysterography or saline infusion sonography, using a minimally invasive ultrasound technique to view the inside of the uterus. Sterile saline is injected into the endometrial cavity thereby distending the endometrial cavity, providing good visualization of the anatomic structures within. tmpxe7fu0cj_hp_relaxed.owl medical hysterosonography|sonohysterography|diagnostic hysterosonography|saline infusion sonography 2020-07-16 14:18:41+00:00 NCIT:C38066 owl:Class HP:0004557 biolink:NamedThing Anterior vertebral fusion tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969393 human_phenotype owl:Class HP:0031027 biolink:NamedThing Internal notch of the femoral head A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546. tmpxe7fu0cj_hp_relaxed.owl 2017-05-21 16:09:24+00:00 peter owl:Class HP:0025239 biolink:NamedThing Subhyaloid hemorrhage A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area. tmpxe7fu0cj_hp_relaxed.owl Subhyaloid heme|Subhyaloid haemorrhage 2016-12-17 00:34:43+00:00 Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians use the terms inter-changeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident. HPO:probinson owl:Class HP:0008144 biolink:NamedThing Flattening of the talar dome tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843986 human_phenotype owl:Class PATO:0001850 biolink:NamedThing scarred A structural quality inhering in a bearer by virtue of the bearer's being fibrous tissue that replaces normal tissue destroyed by injury or disease. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:1901496 biolink:NamedThing positive regulation of cysteine metabolic process Any process that activates or increases the frequency, rate or extent of cysteine metabolic process. tmpxe7fu0cj_hp_relaxed.owl activation of cysteine metabolism|up-regulation of cysteine metabolic process|up-regulation of cysteine metabolism|upregulation of cysteine metabolic process|activation of cysteine metabolic process|upregulation of cysteine metabolism|positive regulation of cysteine metabolism|up regulation of cysteine metabolism|up regulation of cysteine metabolic process vw 2012-10-16T14:28:51Z biological_process owl:Class HP:0004901 biolink:NamedThing Exercise-induced lactic acidemia A form of lactic acidemia that occurs following exercise or exertion. tmpxe7fu0cj_hp_relaxed.owl Exercise-induced lactic acidosis UMLS:C4025277 human_phenotype owl:Class HP:0011616 biolink:NamedThing Pulmonary situs inversus Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023270 peter 2012-04-08T09:23:21Z human_phenotype owl:Class HP:0011615 biolink:NamedThing Abnormal pulmonary situs morphology An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi. tmpxe7fu0cj_hp_relaxed.owl Abnormality of pulmonary situs UMLS:C4023271 peter 2012-04-08T09:20:13Z owl:Class HP:0012783 biolink:NamedThing Intralobar nephrogenic rest A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls. tmpxe7fu0cj_hp_relaxed.owl Intralobar nephrogenic rests UMLS:C1319016|SNOMEDCT_US:405934001 Intralobar nephrogenic rests are associated WAGR (Wilms tumor-aniridia-genital anomalies-retardation) syndrome and Denys-Drash syndrome (DDS). peter 2014-04-20T03:24:35Z human_phenotype owl:Class UBERON:0006532 biolink:NamedThing oblique extraocular muscle tmpxe7fu0cj_hp_relaxed.owl MA:0001275|FMA:312383 uberon owl:Class HP:0011342 biolink:NamedThing Mild global developmental delay A mild delay in the achievement of motor or mental milestones in the domains of development of a child. tmpxe7fu0cj_hp_relaxed.owl Psychomotor retardation, mild|Global developmental delay, mild UMLS:C4012968|UMLS:C2229182 peter 2012-02-29T11:19:49Z human_phenotype owl:Class GO:0005902 biolink:NamedThing microvillus tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0030572 biolink:NamedThing Pinhole visual acuity 0.4 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073045 owl:Class HP:0100283 biolink:NamedThing EMG: continuous motor unit activity at rest Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022170 The motor unit contains an anterior horn cell, its axon, and all of the muscle fibers that it innervates via the neuromuscular junction. Note that a healthy relaxed muscle does not show significant EMG activity at rest. doelkens 2010-08-10T12:59:19Z human_phenotype owl:Class UBERON:0013160 biolink:NamedThing epithalamus ventricular layer tmpxe7fu0cj_hp_relaxed.owl ventricular layer epithalamus|ventricular layer of epithalamus VHOG:0000884|EHDAA2:0000450|EHDAA:5437|EMAPA:17535 uberon owl:Class HP:0034100 biolink:NamedThing Anti-phosphatidyl serine antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 14:58:10+00:00 peter owl:Class HP:0030724 biolink:NamedThing Central nervous system cyst A fluid-filled sac (cyst) located within the central nervous system. tmpxe7fu0cj_hp_relaxed.owl CNS cyst|Cyst of the central nervous system UMLS:C0349606|SNOMEDCT_US:277333006|MSH:D020863 Cysts of CNS are usually maldevelopmental in nature, but in some cases are acquired. The recognition of these cysts radiologically and confirmation by pathology is essential for prognostic purposes. owl:Class GO:0044282 biolink:NamedThing small molecule catabolic process The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. tmpxe7fu0cj_hp_relaxed.owl small molecule catabolism Small molecules in GO include monosaccharides but exclude disaccharides and polysaccharides. jl 2010-01-26T12:06:10Z biological_process owl:Class HP:0031741 biolink:NamedThing Inferior oblique muscle underaction Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:05:23+00:00 peter owl:Class GO:0004333 biolink:NamedThing fumarate hydratase activity Catalysis of the reaction: (S)-malate = fumarate + H(2)O. tmpxe7fu0cj_hp_relaxed.owl L-malate hydro-lyase activity|(S)-malate hydro-lyase (fumarate-forming)|(S)-malate hydro-lyase activity|fumarase activity Reactome:R-HSA-70982|KEGG_REACTION:R01082|EC:4.2.1.2|RHEA:12460|MetaCyc:FUMHYDR-RXN|Reactome:R-HSA-451033 molecular_function owl:Class CHEBI:26421 biolink:NamedThing pyridines Any organonitrogen heterocyclic compound based on a pyridine skeleton and its substituted derivatives. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0008038 biolink:NamedThing Aplastic/hypoplastic lacrimal glands Absence or underdevelopment of the lacrimal gland. tmpxe7fu0cj_hp_relaxed.owl Absent/underdeveloped lacrimal glands|Absent/underdeveloped tear glands UMLS:C1835602 human_phenotype owl:Class HP:0003689 biolink:NamedThing Multiple mitochondrial DNA deletions The presence of multiple deletions of mitochondrial DNA (mtDNA). tmpxe7fu0cj_hp_relaxed.owl Multiple mtDNA deletions UMLS:C3277376 This feature can be demonstrated by muscle biopsy. HP:0003801 human_phenotype owl:Class HP:0009141 biolink:NamedThing Depletion of mitochondrial DNA in muscle tissue tmpxe7fu0cj_hp_relaxed.owl Depletion of mitochondrial dna in skeletal muscle tissue UMLS:C4021521 peter 2008-05-02T12:00:00Z HP:0009070 human_phenotype owl:Class HP:0032678 biolink:NamedThing Eyelid myoclonia seizure An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0200120 biolink:NamedThing Chronic active hepatitis Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis. tmpxe7fu0cj_hp_relaxed.owl Hepatitis, chronic active UMLS:C0520463|SNOMEDCT_US:197284004|MSH:D006521 sebastiankohler 2013-06-11T11:17:25Z human_phenotype owl:Class HP:0100575 biolink:NamedThing Neoplasm of the gallbladder The presence of a neoplasm of the gallbladder. tmpxe7fu0cj_hp_relaxed.owl Neoplasia of the gallbladder UMLS:C0016978|UMLS:C4020708|MSH:D005706|NCIT:C3262|SNOMEDCT_US:126854002 doelkens 2010-12-21T05:18:44Z human_phenotype owl:Class HP:0031430 biolink:NamedThing Oligoclonal T cell expansion The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones. tmpxe7fu0cj_hp_relaxed.owl 2017-09-16 12:00:57+00:00 peter owl:Class HP:0030475 biolink:NamedThing Abnormal timing of dark-adapted dim flash electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072965 owl:Class HP:0030471 biolink:NamedThing Abnormal dark-adapted dim flash electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072961 owl:Class GO:0055071 biolink:NamedThing manganese ion homeostasis Any process involved in the maintenance of an internal steady state of manganese ions within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl manganese homeostasis biological_process owl:Class NCBITaxon:58023 biolink:NamedThing Tracheophyta tmpxe7fu0cj_hp_relaxed.owl vascular plants GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:3193 biolink:NamedThing Embryophyta tmpxe7fu0cj_hp_relaxed.owl land plants|higher plants|plants GC_ID:1 ncbi_taxonomy owl:Class HP:0003546 biolink:NamedThing Exercise intolerance A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. tmpxe7fu0cj_hp_relaxed.owl Low exercise endurance|Poor exercise tolerance|Decreased ability to exercise|Inability to exercise UMLS:C0424551|SNOMEDCT_US:267044007 human_phenotype owl:Class HP:0031318 biolink:NamedThing Myofiber disarray A nonparallel arrangement of cardiac myocytes. tmpxe7fu0cj_hp_relaxed.owl Myocardial fiber disarray|Myocardial fibre disarray 2017-08-27 11:50:24+00:00 The presence of a sufficient quantity of myocardial fibers showing this change is considered to be a specific histological feature of hypertrophic cardiomyopathy. peter owl:Class HP:0033779 biolink:NamedThing Barrel-shaped tooth A tooth crown with convex mesial and distal surfaces. tmpxe7fu0cj_hp_relaxed.owl 2021-05-07 10:08:15+00:00 A barrel shape of a tooth occurs in incisors and canines only. The incisal edge is not pointed. Barrel-shaped teeth are frequently observed in association with hypodontia and oligodontia. peter owl:Class HP:0005194 biolink:NamedThing Flattened metatarsal heads Abnormally flat shape of the heads of the metatarsal bones. tmpxe7fu0cj_hp_relaxed.owl Flattened head of long bone of foot UMLS:C4025240 The metatarsal heads articulate with the proximal phalanges of the toes. human_phenotype owl:Class UBERON:0003659 biolink:NamedThing pedal digit muscle Any muscle organ that is part of a toe [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl terminal segment of free lower limb digit muscle organ|foot digit muscle|muscle organ of foot digit|muscle organ of digitus pedis|foot digit muscle organ|digitus pedis muscle organ|hind limb digit muscle|muscle organ of toe|muscle organ of terminal segment of free lower limb digit|digit of terminal segment of free lower limb muscle organ|muscle organ of digit of foot|toe muscle organ|digit of foot muscle organ|muscle organ of digit of terminal segment of free lower limb EMAPA:37333|MA:0000648 uberon owl:Class HP:0032633 biolink:NamedThing Intratubular hyaline casts A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. tmpxe7fu0cj_hp_relaxed.owl Intratubular Tamm-Horsfall (uromodulin) casts peter owl:Class UBERON:0011824 biolink:NamedThing fibrous connective tissue tmpxe7fu0cj_hp_relaxed.owl FMA:75634|SCTID:363130003 uberon owl:Class UBERON:0017692 biolink:NamedThing internal surface of cranial base Internal (endosteal) surface of the base of skull. tmpxe7fu0cj_hp_relaxed.owl basis cranii interna FMA:53128 uberon owl:Class UBERON:0014639 biolink:NamedThing frontal sulcus A sulcus of brain that is part of a frontal cortex. tmpxe7fu0cj_hp_relaxed.owl frontal lobe sulcus|frontal lobe sulci NCIT:C32639|UMLS:C0459388|HBA:9354 uberon owl:Class GO:0042168 biolink:NamedThing heme metabolic process The chemical reactions and pathways involving heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring. tmpxe7fu0cj_hp_relaxed.owl heme metabolism|haem metabolic process|haem metabolism biological_process owl:Class CL:2000047 biolink:NamedThing brainstem motor neuron Any motor neuron that is part of a brainstem. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-10-02T23:52:53Z cell owl:Class HP:0025679 biolink:NamedThing Diskitis Inflammation of an intervertebral disc or disk space. tmpxe7fu0cj_hp_relaxed.owl Discitis peterrobinson owl:Class HP:0500005 biolink:NamedThing Anal pain Pain in and around the anus or rectum (perianal region). tmpxe7fu0cj_hp_relaxed.owl Rectal pain|Anal pain owl:Class HP:0040244 biolink:NamedThing Prolonged Russell's viper venom time Increased time to coagulation in the Russell's viper venom assay tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280704 This term has been requested and created by members of the BRIDGE consortium owl:Class PATO:0001673 biolink:NamedThing cystic Structure quality that is the presence of at least one sac-like closed membranous structure containing one or more liquid or solid organism substances. tmpxe7fu0cj_hp_relaxed.owl cysts Cystic is an abnormal condition. quality owl:Class HP:0031041 biolink:NamedThing Obstruction of the superior vena cava Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction. tmpxe7fu0cj_hp_relaxed.owl Superior vena cava obstruction|Superior vena cava syndrome 2017-05-27 12:23:27+00:00 Diagnosis of superior vena cava obstruction may be made by computed tomography with contrast and other means. peter owl:Class GO:0006549 biolink:NamedThing isoleucine metabolic process The chemical reactions and pathways involving isoleucine, (2R*,3R*)-2-amino-3-methylpentanoic acid. tmpxe7fu0cj_hp_relaxed.owl isoleucine metabolism biological_process owl:Class HP:0033816 biolink:NamedThing Centrilobular Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:12:13+00:00 peter owl:Class HP:0031081 biolink:NamedThing Impaired cortisol response to glucagon stimulation test Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 23:49:10+00:00 peter owl:Class GO:0071418 biolink:NamedThing cellular response to amine stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amine stimulus. An amine is a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups. tmpxe7fu0cj_hp_relaxed.owl mah 2009-12-14T04:08:17Z biological_process owl:Class HP:0010469 biolink:NamedThing Absent testis Testis not palpable in the scrotum or inguinal canal. tmpxe7fu0cj_hp_relaxed.owl Absence of palpable testicules|Absent testes|Aplasia of the testes UMLS:C4023816 Absence can be congenital or not (vanishing testis). Definitive assessment can only be made by imaging or surgical studies, in order to exclude an intra-abdominal testis, which should be coded as Cryptorchidism. True absence of a testis can be difficult to prove. Anorchia is true absence of both testes, and can only be determined by imaging or surgical studies. peter 2009-09-15T09:29:16Z human_phenotype owl:Class HP:0010468 biolink:NamedThing Aplasia/Hypoplasia of the testes Absence or underdevelopment of the testes. tmpxe7fu0cj_hp_relaxed.owl Absent/small testes|Absent/underdeveloped testes UMLS:C4023817 peter 2009-09-15T09:28:46Z human_phenotype owl:Class HP:0025499 biolink:NamedThing Class I obesity Obesity with a body mass index of 30 to 34.9 kg per square meter. tmpxe7fu0cj_hp_relaxed.owl Obesity grade 1 2017-05-14 20:06:40+00:00 HPO:probinson owl:Class HP:0025349 biolink:NamedThing Limbal edema Swelling of the margin of the cornea overlapped by the sclera. tmpxe7fu0cj_hp_relaxed.owl Limbal oedema 2017-02-12 23:59:31+00:00 HPO:probinson owl:Class HP:0033044 biolink:NamedThing Motor regression Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones. tmpxe7fu0cj_hp_relaxed.owl Regression of motor skills peter owl:Class HP:0020180 biolink:NamedThing Elevated haptoglobin level An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-11 20:30:03+00:00 owl:Class HP:0032558 biolink:NamedThing Absent sperm flagella Sperm cells lacking flagella. tmpxe7fu0cj_hp_relaxed.owl 2019-06-15 00:17:58+00:00 See Figure 1B from PMID:30867909. peter owl:Class HP:0041065 biolink:NamedThing Chronic (near) absent circulating IgG2 A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured. tmpxe7fu0cj_hp_relaxed.owl Chronic (near) absent IgG2 in blood owl:Class HP:0010460 biolink:NamedThing Abnormality of the female genitalia Abnormality of the female genital system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023820 Abnormality of the female internal or external genitalia. peter 2009-09-15T08:32:09Z owl:Class HP:0032501 biolink:NamedThing Exacerbated by contraceptive medication Applied to a sign or symptom that is worsened by taking contraceptive medication. tmpxe7fu0cj_hp_relaxed.owl Contraceptive pills aggravate symptoms 2019-05-23 22:53:32+00:00 peter owl:Class UBERON:0013140 biolink:NamedThing systemic vein Any vein within the general circulation that transports blood back to the right atrium of the heart. tmpxe7fu0cj_hp_relaxed.owl systemic venous tree organ part SCTID:244389004|NCIT:C33719|FMA:66644|UMLS:C0447117 uberon owl:Class GO:0150063 biolink:NamedThing visual system development The process whose specific outcome is the progression of the visual system over time, from its formation to the mature structure, including the eye, parts of the central nervous system (CNS) involved in processing of visual inputs, and connecting nerve pathways. tmpxe7fu0cj_hp_relaxed.owl optic pathway development|visual pathway development bc 2018-07-23T10:31:58Z biological_process owl:Class UBERON:0010986 biolink:NamedThing serratus ventralis pre-muscle mass tmpxe7fu0cj_hp_relaxed.owl serratus anterior pre-muscle mass EHDAA:5992|EHDAA2:0001833 uberon owl:Class HP:0100601 biolink:NamedThing Eclampsia An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders. tmpxe7fu0cj_hp_relaxed.owl MSH:D004461|UMLS:C0013537|SNOMEDCT_US:15938005 doelkens 2010-12-27T05:26:33Z human_phenotype owl:Class HP:0009309 biolink:NamedThing Triangular shaped middle phalanx of the 4th finger Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped middle bone of the ring finger UMLS:C4024452 doelkens 2009-01-08T04:59:22Z human_phenotype owl:Class HP:0031627 biolink:NamedThing Globus pallidus calcification Pathological deposition of calcium salts in the globus pallidus. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 00:15:04+00:00 peter owl:Class HP:0033317 biolink:NamedThing Cellular crescent A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 13:31:42+00:00 peter owl:Class HP:0011538 biolink:NamedThing Atrial situs inversus Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023312|Fyler:0150|ICD-10:Q89.3|EPCC:03.01.03|Fyler:150 peter 2012-04-07T10:40:16Z human_phenotype owl:Class HP:0033629 biolink:NamedThing IgG4 autoimmune antibody positivity The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues. tmpxe7fu0cj_hp_relaxed.owl 2021-01-31 18:32:57+00:00 peter owl:Class PATO:0000648 biolink:NamedThing obstructed A morphological quality inhering in a bearer by virtue of the bearer's being blocked or filled with obstacles or an obstacle. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0007286 biolink:NamedThing Horizontal jerk nystagmus Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024910 Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other. human_phenotype owl:Class HP:0002672 biolink:NamedThing Gastrointestinal carcinoma tmpxe7fu0cj_hp_relaxed.owl GI carcinoma UMLS:C0151544 human_phenotype owl:Class HP:0031043 biolink:NamedThing Type A4 brachydactyly A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits. tmpxe7fu0cj_hp_relaxed.owl 2017-05-27 13:45:19+00:00 peter owl:Class GO:0045824 biolink:NamedThing negative regulation of innate immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response. tmpxe7fu0cj_hp_relaxed.owl down regulation of innate immune response|inhibition of innate immune response|downregulation of innate immune response|down-regulation of innate immune response biological_process owl:Class HP:0005421 biolink:NamedThing Decreased serum complement C3 A reduced level of the complement component C3 in circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased serum complement C3 level|Decreased serum C3 UMLS:C1837512 HP:0005408 human_phenotype owl:Class HP:0000418 biolink:NamedThing Narrow nasal ridge Decreased width of the nasal ridge. tmpxe7fu0cj_hp_relaxed.owl Narrow dorsum of nose|Narrow nasal ridge|Decreased width of dorsum of nose|Thin nasal ridge|Thin dorsum of nose|Decreased width of nasal ridge|Decreased width of nasal dorsum|Thin nasal dorsum|Narrow nasal dorsum|Pinched nose UMLS:C1837761 This feature may be accompanied by narrow nasal bridge and narrow nasal base, which should be coded separately. human_phenotype owl:Class UBERON:0005469 biolink:NamedThing right thymus lobe A thymus lobe that is in the right side of a thymus. tmpxe7fu0cj_hp_relaxed.owl right thymic lobe|right lobe of thymus FMA:71194|RETIRED_EHDAA2:0001758 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern HP:0032233 biolink:NamedThing Increased circulating creatine kinase BB isoform An increased concentration of the BB isoform of creatine kinase in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased circulating CK BB isoform 2019-01-26 17:11:51+00:00 All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury. peter owl:Class HP:0000506 biolink:NamedThing Telecanthus Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. tmpxe7fu0cj_hp_relaxed.owl Dystopia canthorum|Corners of eye widely separated|Increased intercanthal distance|Increased distance between medial canthi MSH:C562941|SNOMEDCT_US:246803005|UMLS:C0423113 Dystopia canthorum (also called telecanthus) describes a subtle but unusual facial feature in which the inner corners of the eyes (canthi) are spaced farther apart than normal, yet the eyes (pupils) themselves are not necessarily widely spaced. human_phenotype owl:Class HP:0100730 biolink:NamedThing Bronchogenic cyst A rare congenital cystic lesion of the lungs in the mediastinum. tmpxe7fu0cj_hp_relaxed.owl MSH:D001994|UMLS:C0006281|SNOMEDCT_US:268194008|SNOMEDCT_US:9550003 Bronchogenic cysts (BCs) are congenital lesions thought to result from abnormal budding of the embryonic foregut. The most frequent symptoms are pain, cough, fever, respiratory distress, or dyspnea. Intrapulmonary bronchogenic cysts are usually sharply defined, solitary, non-calcified, round, or oval opacities confined to a single lobe. These can present as a homogeneous water density, an air- filled cyst, or with an air-fluid level. The cyst can rupture into the trachea, pericardial cavity, or pleural cavity. Infection of the cyst may lead to surrounding acinar shadow. An air-filled cyst or one with an air-fluid level may be present if a complicating tracheo-bronchial connection develops. doelkens 2011-06-06T05:01:27Z human_phenotype owl:Class HP:0010202 biolink:NamedThing Duplication of middle phalanx of toe Partial or complete duplication of a middle phalanx of toe. tmpxe7fu0cj_hp_relaxed.owl Partial/complete duplication of the middle bones of the toes|Partial/complete duplication of the middle phalanges of the toes UMLS:C4021318 doelkens 2009-05-29T01:53:35Z human_phenotype owl:Class HP:0031862 biolink:NamedThing Increased heart rate variability Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 21:05:04+00:00 peter owl:Class HP:0025318 biolink:NamedThing Ovarian carcinoma A malignant neoplasm originating from the surface ovarian epithelium. tmpxe7fu0cj_hp_relaxed.owl Ovarian epithelial cancer 2017-01-25 14:30:43+00:00 NCIT:C4908 HPO:probinson owl:Class HP:0011307 biolink:NamedThing Splayed toes Divergence of digits along the anteroposterior axis (in the plane of the sole). tmpxe7fu0cj_hp_relaxed.owl Splayed toes UMLS:C2117390 hecht 2012-02-12T12:38:36Z human_phenotype owl:Class HP:0031581 biolink:NamedThing Tessier number 9 facial cleft This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa. tmpxe7fu0cj_hp_relaxed.owl 2017-10-14 12:48:09+00:00 peter owl:Class HP:0040204 biolink:NamedThing Elevated CSF neopterin level Increased concentration of neopterin in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073152 PhenoTips:CHum owl:Class HP:0031526 biolink:NamedThing Subretinal fluid Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane. tmpxe7fu0cj_hp_relaxed.owl Sub-retinal fluid 2017-09-24 00:47:09+00:00 peter owl:Class HP:0025086 biolink:NamedThing Bloody mucoid diarrhea Passage of many stools containing blood and mucus. tmpxe7fu0cj_hp_relaxed.owl Bloody mucoid diarrhoea 2016-10-15 13:59:04+00:00 HPO:probinson owl:Class UBERON:0007181 biolink:NamedThing serosa of infundibulum of uterine tube A serous membrane that is part of a uterine tube infundibulum. tmpxe7fu0cj_hp_relaxed.owl serosa of infundibulum of fallopian tube|serosa of infundibulum of oviduct FMA:18324|EMAPA:29903 uberon owl:Class HP:0012334 biolink:NamedThing Extrahepatic cholestasis Impairment of bile flow due to obstruction in large bile ducts outside the liver. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:20719006|SNOMEDCT_US:8262006|UMLS:C0005398|MSH:D001651 peter 2013-09-13T08:13:48Z human_phenotype owl:Class HP:0031628 biolink:NamedThing Aborted sudden cardiac death Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it. tmpxe7fu0cj_hp_relaxed.owl Sudden cardiac arrest 2017-12-17 00:22:44+00:00 peter owl:Class HP:0001695 biolink:NamedThing Cardiac arrest An abrupt loss of heart function. tmpxe7fu0cj_hp_relaxed.owl Heart stops beating SNOMEDCT_US:410429000|SNOMEDCT_US:397829000|UMLS:C0018790|MSH:D006323 human_phenotype owl:Class HP:0033204 biolink:NamedThing Triceps hyperreflexia Increased intensity of the triceps reflex. tmpxe7fu0cj_hp_relaxed.owl 2020-10-11 14:37:10+00:00 peter owl:Class HP:0002310 biolink:NamedThing Orofacial dyskinesia tmpxe7fu0cj_hp_relaxed.owl Orofacial dyskinesias SNOMEDCT_US:49386006|MSH:D020820|UMLS:C0152115 human_phenotype owl:Class HP:0012010 biolink:NamedThing EEG with frontal focal spike waves EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023081 hecht 2012-07-20T11:59:21Z human_phenotype owl:Class HP:0040259 biolink:NamedThing Aplastic nasopharyngeal adenoids Absence of the nasopharyngeal adenoids as a developmental defect. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280690 owl:Class GO:0050954 biolink:NamedThing sensory perception of mechanical stimulus The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpxe7fu0cj_hp_relaxed.owl perception of mechanical stimulus|chemi-mechanical coupling|mechanosensory perception biological_process owl:Class HP:0025304 biolink:NamedThing Periodic Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length. tmpxe7fu0cj_hp_relaxed.owl Cyclical|Cyclic 2016-12-21 00:55:09+00:00 HPO:probinson owl:Class HP:0032861 biolink:NamedThing Focal non-convulsive status epilepticus with impairment of consciousness Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired. tmpxe7fu0cj_hp_relaxed.owl Focal non-convulsive status epilepticus with impairment of awareness Semiology may include autonomic, sensory, visual, olfactory, gustatory, emotional/psychic/experiential, or cognitive symptoms, depending on the fluctuation of consciousness. In 2015, the ILAE Task Force on Classification of Status Epilepticus proposed that time t1 (indicating the time that emergency treatment should be started because the seizure is unlikely to terminate spontaneously) is 10 minutes and t2 (the time at which long-term consequences of the seizure may be expected) is at least 60 minutes for focal status epilepticus with impaired consciousness. peter owl:Class GO:0061551 biolink:NamedThing trigeminal ganglion development The process whose specific outcome is the progression of a trigeminal ganglion over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl trigeminal ganglia development dph 2013-07-10T08:42:19Z biological_process owl:Class HP:0010859 biolink:NamedThing Frank breech presentation A kind of breech presentation in which the hips are flexed and the knees are extended. tmpxe7fu0cj_hp_relaxed.owl MSH:D001946|SNOMEDCT_US:18559007|UMLS:C0233286 peter 2010-08-03T12:33:15Z human_phenotype owl:Class HP:0025238 biolink:NamedThing Foot pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot. tmpxe7fu0cj_hp_relaxed.owl Foot pain 2016-12-16 11:55:08+00:00 HPO:probinson owl:Class HP:0033363 biolink:NamedThing Hyaline membranes Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult. tmpxe7fu0cj_hp_relaxed.owl 2020-12-16 11:36:41+00:00 peter owl:Class GO:0006089 biolink:NamedThing lactate metabolic process The chemical reactions and pathways involving lactate, the anion of lactic acid. tmpxe7fu0cj_hp_relaxed.owl 2-hydroxypropanoate metabolism|2-hydroxypropanoate metabolic process|lactate metabolism|alpha-hydroxypropionate metabolism|alpha-hydroxypropionate metabolic process biological_process owl:Class HP:0003435 biolink:NamedThing Cold-induced hand cramps tmpxe7fu0cj_hp_relaxed.owl UMLS:C1832279 human_phenotype owl:Class HP:0010145 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024014 doelkens 2009-05-29T01:22:47Z human_phenotype owl:Class HP:0033156 biolink:NamedThing Elevated urine L-alloisoleucine level Abnormally increased level of L-alloisoleucine in the urine. tmpxe7fu0cj_hp_relaxed.owl 2020-09-20 12:04:00+00:00 Elevated alloisoleucine in serum or urine is characteristic of Maple syrup urine disease. peter owl:Class HP:0033913 biolink:NamedThing Cortical radial artery medial/intimal arteriitis Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney. tmpxe7fu0cj_hp_relaxed.owl Interlobular artery medial/intimal arteriitis|Arteritis within interlobular arterial intima/media 2021-06-23 23:12:15+00:00 peter owl:Class HP:0033585 biolink:NamedThing Fibrotic non-specific interstitial pneumonia A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation. tmpxe7fu0cj_hp_relaxed.owl 2021-01-27 20:44:16+00:00 peter owl:Class HP:0007903 biolink:NamedThing Paravenous chorioretinal atrophy Chorioretinal atrophy along the retinal veins. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072868 human_phenotype owl:Class CL:0008000 biolink:NamedThing non-striated muscle cell Any muscle cell in which the fibers are not organised into sarcomeres. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0003347 biolink:NamedThing Impaired lymphocyte transformation with phytohemagglutinin Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025625 The response of lymphocytes to PHA is measured by their ability to transform and to undergo mitosis. human_phenotype owl:Class HP:0004454 biolink:NamedThing Abnormal middle ear reflexes tmpxe7fu0cj_hp_relaxed.owl UMLS:C1970887 human_phenotype owl:Class HP:0100500 biolink:NamedThing Fibular deviation of toes tmpxe7fu0cj_hp_relaxed.owl Lateral deviation of toes UMLS:C4020970 doelkens 2010-12-17T04:26:14Z human_phenotype owl:Class HP:0000580 biolink:NamedThing Pigmentary retinopathy An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. tmpxe7fu0cj_hp_relaxed.owl Retinal pigmentary clumping|Retinal pigment clumping|Pigmentary retinal deposits|Retinal pigmentary degeneration SNOMEDCT_US:28835009|UMLS:C0035334|MSH:D012174 HP:0007852|HP:0008010|HP:0007934|HP:0007961|HP:0007702|HP:0001146|HP:0007869|HP:0007821 owl:Class HP:0033887 biolink:NamedThing Cortical radial artery intimal/medial amyloidosis Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy tmpxe7fu0cj_hp_relaxed.owl Interlobular arterial intima/media amyloidosis|Amyloidosis within interlobular arterial intima/media 2021-06-23 21:57:32+00:00 peter owl:Class HP:0012189 biolink:NamedThing Hodgkin lymphoma A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. tmpxe7fu0cj_hp_relaxed.owl Hodgkin's lymphoma|Hodgkin disease SNOMEDCT_US:118599009|SNOMEDCT_US:118606001|SNOMEDCT_US:70600005|SNOMEDCT_US:74189002|MSH:D006689|SNOMEDCT_US:14537002|SNOMEDCT_US:118602004|UMLS:C0019829|SNOMEDCT_US:118605002|SNOMEDCT_US:46923007 peter 2013-02-27T06:53:11Z human_phenotype owl:Class PATO:0000760 biolink:NamedThing increased behavioural activity A behavioral quality of a process inhering in a bearer by virtue of the bearer's exhibiting increased activity. tmpxe7fu0cj_hp_relaxed.owl hyperactive quality owl:Class HP:0009236 biolink:NamedThing Rhomboid or triangular shaped 5th finger proximal phalanx Rhomboid or triangular shaped 5th (little) finger proximal phalanx. tmpxe7fu0cj_hp_relaxed.owl Rhomboid or triangular shaped innermost bone of pinky finger|Rhomboid or triangular shaped innermost bone of pinkie finger|Rhomboid or triangular shaped innermost bone of little finger UMLS:C4024509 doelkens 2009-01-05T06:20:38Z human_phenotype owl:Class HP:0030108 biolink:NamedThing Reduced muscle fiber gamma sarcoglycan Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Reduced muscle fibre gamma sarcoglycan UMLS:C4022637 owl:Class HP:0032201 biolink:NamedThing Rotator cuff tear The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus. tmpxe7fu0cj_hp_relaxed.owl 2019-01-20 11:23:57+00:00 Rotator cuff tears can be caused by injury, overuse, or other causes and may be associated with pain and swelling of the shoulder. peter owl:Class HP:0033170 biolink:NamedThing Abnormal skinfold thickness measurement Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. tmpxe7fu0cj_hp_relaxed.owl 2020-09-24 10:24:44+00:00 peter owl:Class HP:0030227 biolink:NamedThing Accumulation of muscle fiber myotilin Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Accumulation of muscle fibre myotilin UMLS:C4022571 owl:Class HP:0030226 biolink:NamedThing Abnormal muscle fiber myotilin A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre myotilin UMLS:C4022572 owl:Class HP:0030825 biolink:NamedThing Absent foveal reflex Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. tmpxe7fu0cj_hp_relaxed.owl Foveal reflex absent|Loss of foveal reflex SNOMEDCT_US:247144003|UMLS:C0423420 Absence of the foveal reflex can occur with macular edema, central serous retinopathy, or other macular abnormalities such as macular dystrophy. The macular reflex is often less pronounced in adults than in children, and may be absent in otherwise normal eyes of older individuals. owl:Class HP:0009672 biolink:NamedThing Small epiphysis of the proximal phalanx of the thumb Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Small end part of thumb innermost long bone UMLS:C4024245 doelkens 2009-01-30T09:17:13Z human_phenotype owl:Class HP:0004977 biolink:NamedThing Bilateral radial aplasia Missing radius bone on both sides associated with congenital failure of development. tmpxe7fu0cj_hp_relaxed.owl Bilateral absence of radius UMLS:C1848840 HP:0005870 human_phenotype owl:Class HP:0410401 biolink:NamedThing Worse in evening Applies to a sign or symptom that is exacerbated in the evening as compared to the day. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0025517 biolink:NamedThing Hypoplastic hippocampus Underdevelopment of the hippocampus. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped hippocampus|Small hippocampus 2017-05-16 22:42:57+00:00 HPO:probinson owl:Class HP:0007299 biolink:NamedThing Dysfunction of lateral corticospinal tracts tmpxe7fu0cj_hp_relaxed.owl UMLS:C1832671 owl:Class HP:0010493 biolink:NamedThing Long metacarpals An abnormally increased length of the metacarpal bones. tmpxe7fu0cj_hp_relaxed.owl Elongated long bone of hand|Increased length of metacarpals UMLS:C4021260 peter 2009-09-17T10:25:37Z human_phenotype owl:Class HP:0005102 biolink:NamedThing Cochlear degeneration Deterioration or loss of the tissues of the cochlea. tmpxe7fu0cj_hp_relaxed.owl Progressive cochlear degeneration UMLS:C1849095 peter 2008-03-25T05:06:00Z HP:0008156 human_phenotype owl:Class HP:0008801 biolink:NamedThing Hypoplasia of the lesser trochanter Underdevelopment of the lesser trochanter. tmpxe7fu0cj_hp_relaxed.owl Lesser trochanter hypoplasia UMLS:C1840062 human_phenotype owl:Class PATO:0002089 biolink:NamedThing polycystic A structure quality inhering in a bearer by virtue of the bearer's body containing more than one cyst - formations of sac-like closed membranous structures not associated with neoplasia. tmpxe7fu0cj_hp_relaxed.owl multicystic 2009-10-01T03:02:54Z quality owl:Class HP:0002287 biolink:NamedThing Progressive alopecia Progressive loss of hair. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851885 human_phenotype owl:Class HP:0000603 biolink:NamedThing Central scotoma An area of depressed vision located at the point of fixation and that interferes with central vision. tmpxe7fu0cj_hp_relaxed.owl Central scotomata|Blind spot located at fixation point|Central blind spot SNOMEDCT_US:38950008|UMLS:C0152191|UMLS:C4280624|MSH:D012607 human_phenotype owl:Class PATO:0001608 biolink:NamedThing patchy A spatial pattern inhering in a bearer by virtue of the bearer's being marked by, consisting of, or diversified with patches. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:0050657 biolink:NamedThing nucleic acid transport The directed movement of nucleic acids, single or double-stranded polynucleotides involved in the storage, transmission and transfer of genetic information, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0002138 biolink:NamedThing Subarachnoid hemorrhage Hemorrhage occurring between the arachnoid mater and the pia mater. tmpxe7fu0cj_hp_relaxed.owl Subarachnoid haemorrhage SNOMEDCT_US:21454007|MSH:D013345|UMLS:C0038525 Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury. human_phenotype owl:Class HP:0007820 biolink:NamedThing Lacrimal punctal atresia Congenital absence or closure of the opening of the lacrimal punctum. tmpxe7fu0cj_hp_relaxed.owl Atretic lacrimal puncta|Atretic lacrimal punctum UMLS:C1863201 human_phenotype owl:Class HP:0012348 biolink:NamedThing Decreased galactosylation of N-linked protein glycosylation A reduction in the amount of galactose residues of N-glycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022943 The majority of complex and hybrid N-glycans have elongated branches that are made by the addition of a beta-linked galactose residue to the initiating N-acetylglucosamine to produce the ubiquitous building block Gal-beta-linked1-4GlcNAc, referred to as a type-2 N-acetyllactosamine (LacNAc) sequence. peter 2013-09-15T10:02:47Z human_phenotype owl:Class HP:0041048 biolink:NamedThing Decreased expression of GPI-anchored proteins on the cell surface A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0031551 biolink:NamedThing Reduced cell surface marker level Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 23:18:36+00:00 peter owl:Class CHEBI:140785 biolink:NamedThing R-cob(III)alamin tmpxe7fu0cj_hp_relaxed.owl an R-cob(III)alamin 0 C62H88CoN13O14PR 1329.350 1328.56433 [Co-3]1234(N5C6=C(C7=[N+]4C(=CC8=[N+]3C(=C(C9=[N+]2[C@@]([C@]5([C@@H]([C@@]6(C)CCC(=O)NC[C@H](OP(O[C@@H]%10[C@H](O[C@H](N%11C=[N+]1C%12=CC(=C(C=C%12%11)C)C)[C@@H]%10O)CO)(=O)[O-])C)CC(=O)N)[H])([C@]([C@@H]9CCC(N)=O)(CC(=O)N)C)C)C)[C@](C)([C@@H]8CCC(=O)N)CC(N)=O)C([C@@H]7CCC(=O)N)(C)C)C)* MetaCyc:CPD-20938 chebi_ontology owl:Class CHEBI:23333 biolink:NamedThing cob(III)alamins tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0033034 biolink:NamedThing Anti-citrullinated protein antibody positivity The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen. tmpxe7fu0cj_hp_relaxed.owl ACPAs are the major autoantibodies in rheumatoid arthritis and are highly specific. They are useful in the diagnosis and in the prediction oft he course and outcome of rheumatoid arthritis. peter owl:Class HP:0002415 biolink:NamedThing Leukodystrophy Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. tmpxe7fu0cj_hp_relaxed.owl Degeneration of white matter of brain SNOMEDCT_US:192781003|UMLS:C0023520 The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible. owl:Class HP:0011537 biolink:NamedThing Left atrial isomerism In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3178807|ICD-10:Q20.6|MSH:D059446|EPCC:03.01.05 Left and right hand side atria have left atrial morphology. peter 2012-04-07T10:37:51Z human_phenotype owl:Class HP:0005899 biolink:NamedThing Metaphyseal dysostosis Abnormal mineralization of the metaphyseal area of bones. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:28681006|UMLS:C0265290 human_phenotype owl:Class HP:0031282 biolink:NamedThing Malalignment of the great toenail A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 17:08:48+00:00 See Figure 1 of PMID:27171597. peter owl:Class MPATH:14 biolink:NamedThing process of degenerative change A pathological process of loss or degradation of function, or structural integrity, of a tissue, organ or cell. tmpxe7fu0cj_hp_relaxed.owl George Gkoutos mouse_pathology.ontology owl:Class MPATH:597 biolink:NamedThing cell and tissue damage process Processes occurring during cell and tissue damage of either intrinsic or extrinsic etiology. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class CL:0002005 biolink:NamedThing CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell A megakaryocyte erythroid progenitor cell is CD34-positive, CD38-positive and is IL3-receptor alpha-negative and CD45RA-negative. tmpxe7fu0cj_hp_relaxed.owl Markers are associated with human cell type. tmeehan 2010-01-13T03:43:10Z cell owl:Class HP:0006209 biolink:NamedThing Partial-complete absence of 5th phalanges tmpxe7fu0cj_hp_relaxed.owl Partial-complete absence of 5th digital bone UMLS:C1867928 human_phenotype owl:Class HP:0033575 biolink:NamedThing Anti-H2A antibody positivity The presence of autoantibodies in the blood circulation that react against histone H2A. tmpxe7fu0cj_hp_relaxed.owl 2021-01-24 13:57:33+00:00 peter owl:Class HP:0410317 biolink:NamedThing Increased urinary 3-methylhistidine Increased concentration of 3-methylhistidine in the urine. tmpxe7fu0cj_hp_relaxed.owl 3-Methylhistidinuria owl:Class HP:0010094 biolink:NamedThing Complete duplication of the proximal phalanx of the hallux Complete duplication of the proximal phalanx of big toe. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the innermost bone of big toe UMLS:C4024053 doelkens 2009-05-29T12:18:59Z human_phenotype owl:Class HP:0009323 biolink:NamedThing Cone-shaped epiphysis of the middle phalanx of the 3rd finger A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the middle bone of the middle finger UMLS:C4024442 doelkens 2009-01-12T11:15:44Z human_phenotype owl:Class HP:0040310 biolink:NamedThing Sterile arthritis An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures. tmpxe7fu0cj_hp_relaxed.owl This form of arthritis is termed 'sterile' because bacetriology returns negative results even though the clinical presentation resembles that of infectious arthritis. ORCID:0000-0002-5316-1399 owl:Class HP:0005308 biolink:NamedThing Pulmonary artery vasoconstriction tmpxe7fu0cj_hp_relaxed.owl UMLS:C1867424 human_phenotype owl:Class HP:0033833 biolink:NamedThing Elevated circulating soluble CD25 concentration Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating interleukin-2 receptor alpha-chain 2021-05-16 15:23:19+00:00 peter owl:Class HP:0030117 biolink:NamedThing Absent muscle fiber emerin Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Absent muscle fibre emerin UMLS:C4022628 owl:Class MPATH:126 biolink:NamedThing growth and differentiation defect Defects in growth (changes in proliferation or mass) and differentiation of cells tissues or organs. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0025165 biolink:NamedThing Clumping of elastic fibers in the dermis Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis). tmpxe7fu0cj_hp_relaxed.owl Clumping of elastic fibres in the dermis 2016-12-04 13:50:37+00:00 HPO:probinson owl:Class HP:0003716 biolink:NamedThing Generalized muscular appearance from birth tmpxe7fu0cj_hp_relaxed.owl Generalised muscular appearance from birth UMLS:C1837799 human_phenotype owl:Class HP:0008290 biolink:NamedThing Partial complement factor H deficiency A partial reduction in level of the complement component Factor H in circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024708 human_phenotype owl:Class HP:0005369 biolink:NamedThing Decreased serum complement factor H A reduced level of the complement component Factor H in circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969222 human_phenotype owl:Class HP:0033918 biolink:NamedThing Renal arteriole medial hypertrophy Increased thickness of middle layer of the arterioles of the kidney. tmpxe7fu0cj_hp_relaxed.owl Medial hypertrophy within arterioles 2021-06-23 23:31:33+00:00 peter owl:Class HP:0010833 biolink:NamedThing Spontaneous pain sensation Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023690 peter 2010-07-10T07:19:19Z human_phenotype owl:Class HP:0005906 biolink:NamedThing Delayed pneumatization of the mastoid process An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Mastoid processes poorly pneumatized UMLS:C4021617 human_phenotype owl:Class HP:0100039 biolink:NamedThing Thickened cortex of bones An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022382 doelkens 2010-06-24T09:39:01Z human_phenotype owl:Class CHEBI:131619 biolink:NamedThing C27-steroid A steroid compound with a structure based on a 27-carbon (cholestane) skeleton. tmpxe7fu0cj_hp_relaxed.owl C27-steroids chebi_ontology owl:Class HP:0045052 biolink:NamedThing Abnormality of the brachial nerve plexus Any abnormality of the brachial nerve plexus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073176 HPO:skoehler owl:Class GO:0035878 biolink:NamedThing nail development The process whose specific outcome is the progression of a nail over time, from its formation to the mature structure. A nail is a horn-like envelope covering the outer end of a finger or toe, and consists of the nail plate, the nail matrix and the nail bed below it, and the grooves surrounding it. tmpxe7fu0cj_hp_relaxed.owl bf 2011-05-31T02:30:34Z biological_process owl:Class HP:0025161 biolink:NamedThing Frequent temper tantrums Temper tantrums that occur more frequently than usual. tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 13:05:18+00:00 HPO:probinson owl:Class HP:0005593 biolink:NamedThing Macular hypopigmented whorls, streaks, and patches tmpxe7fu0cj_hp_relaxed.owl UMLS:C3806616 human_phenotype owl:Class UBERON:8410002 biolink:NamedThing small intestine lymphatic vessel A lymphatic vessel that supplies the small intestine. tmpxe7fu0cj_hp_relaxed.owl lymphatic vessel of small intestine http://orcid.org/0000-0002-2825-0621 uberon owl:Class CHEBI:16498 biolink:NamedThing N-acylneuraminic acid Any neuraminic acid carrying an N-acyl substituent. tmpxe7fu0cj_hp_relaxed.owl 5-alkanamido-3,5-dideoxy-D-glycero-D-galacto-non-2-ulopyranosonic acid|N-Acylneuraminate|N-acylneuraminic acids 0 C10H16NO9R 294.23530 294.08251 [H][C@]1(OC(O)(C[C@H](O)[C@H]1NC([*])=O)C(O)=O)[C@H](O)[C@H](O)CO KEGG:C00591 CHEBI:7240|CHEBI:12485|CHEBI:21664 chebi_ontology owl:Class CHEBI:26667 biolink:NamedThing sialic acid Any of the N-acylneuraminic acids and their esters and other derivatives of the alcoholic hydroxy groups. tmpxe7fu0cj_hp_relaxed.owl Sialsaeuren|sialic acids|acide sialique|acides sialique|Sialsaeure Wikipedia:Sialic_acid chebi_ontology owl:Class GO:0061116 biolink:NamedThing ductus venosus closure The morphogenesis process in which the ductus venosus changes to no longer permit blood flow after birth. tmpxe7fu0cj_hp_relaxed.owl dph 2010-05-17T07:21:53Z biological_process owl:Class HP:0004905 biolink:NamedThing Low levels of vitamin A A reduced concentration of vitamin A. tmpxe7fu0cj_hp_relaxed.owl Vitamin A deficiency SNOMEDCT_US:72000004|UMLS:C0042842|MSH:D014802 human_phenotype owl:Class HP:0009295 biolink:NamedThing Short middle phalanx of the 4th finger Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger. tmpxe7fu0cj_hp_relaxed.owl Short middle phalanx of ring finger|Brachymesophalangy IV (finger)|Hypoplastic/small middle phalanx of ring finger|Hypoplastic/small middle phalanx of the 4th finger|Short middle bone of 4th finger UMLS:C4021497 doelkens 2009-01-08T04:11:35Z HP:0004206|HP:0004205 owl:Class HP:0003834 biolink:NamedThing Shoulder dislocation A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation. tmpxe7fu0cj_hp_relaxed.owl Shoulder dislocation SNOMEDCT_US:125615005|MSH:D012783|SNOMEDCT_US:417076003|UMLS:C0037005 human_phenotype owl:Class UBERON:0013498 biolink:NamedThing vestibulo-cochlear VIII ganglion complex tmpxe7fu0cj_hp_relaxed.owl vestibulocochlear VIII ganglion complex|vestibulocochlear ganglion complex|vestibular VIII ganglion complex EMAPA:17570|EHDAA2:0004313 requires verification uberon owl:Class HP:0001954 biolink:NamedThing Recurrent fever Periodic (episodic or recurrent) bouts of fever. tmpxe7fu0cj_hp_relaxed.owl Increased body temperature, episodic|Episodic fever|Intermittent fever|Hyperthermia, episodic UMLS:C0277799|SNOMEDCT_US:77957000 HP:0005980|HP:0005962|HP:0004903|HP:0005966 owl:Class HP:0033503 biolink:NamedThing Elevated CSF fumarate An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 14:28:36+00:00 peter owl:Class HP:0032215 biolink:NamedThing Disseminated cutaneous warts Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities. tmpxe7fu0cj_hp_relaxed.owl 2019-01-20 21:19:28+00:00 peter owl:Class HP:0200043 biolink:NamedThing Verrucae Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. tmpxe7fu0cj_hp_relaxed.owl Warts SNOMEDCT_US:30285000|SNOMEDCT_US:57019003|MSH:D014860|UMLS:C3665596 Cause is a virus called HPV (human papilloma virus), which infects the skin and causes the abnormal growth. There are many different varieties of the virus, which usually depends on the location of the lesion. sebastiankohler 2010-06-18T11:35:25Z human_phenotype owl:Class HP:0031317 biolink:NamedThing Fatty replacement of ventricular myocardial tissue Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue. tmpxe7fu0cj_hp_relaxed.owl Fatty infiltration of cardiac ventricle|Intramyocardial fat infiltration 2017-08-27 11:45:49+00:00 peter owl:Class HP:0002268 biolink:NamedThing Paroxysmal dystonia A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. tmpxe7fu0cj_hp_relaxed.owl Episodic dystonia UMLS:C0393588|MSH:D004421|SNOMEDCT_US:230310003 HP:0002412 human_phenotype owl:Class HP:0005562 biolink:NamedThing Multiple renal cysts The presence of many cysts in the kidney. tmpxe7fu0cj_hp_relaxed.owl Multiple kidney cysts UMLS:C0431718|SNOMEDCT_US:253883006 human_phenotype owl:Class UBERON:0004817 biolink:NamedThing lacrimal gland epithelium An epithelium that is part of a lacrimal gland [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lacrimal gland epithelial tissue|epithelium of lacrimal gland|epithelial tissue of lacrimal gland MA:0001297|EMAPA:36515 uberon owl:Class HP:0005679 biolink:NamedThing Dupuytren contracture An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:203045001|SNOMEDCT_US:203047009|UMLS:C0013312|SNOMEDCT_US:410813000|SNOMEDCT_US:274142002|MSH:D004387 A Dupuytren contracture usually affects the fourth and fifth digits (the ring and small fingers). Affected persons are not able to extend the 4th and 5th fingers. human_phenotype owl:Class HP:0006390 biolink:NamedThing Anterior tibial bowing An abnormal anterior bending or curvature of the tibia. tmpxe7fu0cj_hp_relaxed.owl Anterior bowing of tibia UMLS:C1861937 human_phenotype owl:Class HP:0008722 biolink:NamedThing Urethral diverticulum The presence of a diverticulum (sac or pouch) in the wall of the urethra. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0152443|SNOMEDCT_US:90531003 human_phenotype owl:Class HP:0033197 biolink:NamedThing Hepatic lobular inflammation Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes). tmpxe7fu0cj_hp_relaxed.owl 2020-10-11 12:10:39+00:00 Each liver lobule is hexagonal in cross section and is centered on the central vein (teh central veins are branches of the hepatic vein). Within lobules, hepatocytes are arranged into hepatic cords separated by adjacent sinusoids. peter owl:Class HP:0100342 biolink:NamedThing Fibular deviation of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022138 doelkens 2010-11-11T03:43:52Z human_phenotype owl:Class HP:0007944 biolink:NamedThing Intermittent microsaccadic pursuits tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024768 human_phenotype owl:Class HP:0001152 biolink:NamedThing Saccadic smooth pursuit An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. tmpxe7fu0cj_hp_relaxed.owl Saccadic pursuit movements|Saccadic slow pursuit UMLS:C1836479 Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. HP:0000530 human_phenotype owl:Class HP:0410063 biolink:NamedThing Increased level of galactonate in red blood cells An increase in the level of galactonate in the red blood cells. tmpxe7fu0cj_hp_relaxed.owl Increased level of galactonate in RBCs|Increased level of galactonate in erythrocytes 2018-01-29 22:39:38+00:00 ORCID:0000-0001-5208-3432 owl:Class UBERON:0001867 biolink:NamedThing cartilage of external ear A cartilage that is part of a external ear [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl external ear cartilage FMA:61339|MESH:A02.165.207|NCIT:C49225|GAID:103|EMAPA:37706|MA:0001886|UMLS:C0013445 uberon owl:Class UBERON:6000004 biolink:NamedThing panarthropod head tmpxe7fu0cj_hp_relaxed.owl FBbt:00000004 uberon owl:Class GO:1903038 biolink:NamedThing negative regulation of leukocyte cell-cell adhesion Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte cell-cell adhesion. tmpxe7fu0cj_hp_relaxed.owl inhibition of leukocyte adhesion|down regulation of leukocyte cell adhesion|down-regulation of leukocyte cell adhesion|down-regulation of leukocyte adhesion|downregulation of leukocyte adhesion|down regulation of leukocyte cell-cell adhesion|negative regulation of leukocyte adhesion|down-regulation of leukocyte cell-cell adhesion|negative regulation of leukocyte cell adhesion|downregulation of leukocyte cell-cell adhesion|inhibition of leukocyte cell adhesion|down regulation of leukocyte adhesion|downregulation of leukocyte cell adhesion|inhibition of leukocyte cell-cell adhesion Exogenous expression of ASS1 or NOS3 in HUVECs enhances NO production and inhibits monocyte adhesion rl 2014-05-19T15:30:05Z biological_process owl:Class UBERON:0004442 biolink:NamedThing proximal epiphysis of proximal phalanx of manual digit 4 A proximal epiphysis that is part of a proximal phalanx of manual digit 4 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl base of proximal phalanx of ring finger|proximal epiphysis of proximal phalanx of manual digit IV|basal epiphysis of proximal phalanx of ring finger|basal epiphysis of proximal phalanx of fourth finger|proximal epiphysis of proximal phalanx of ring finger|base of proximal phalanx of fourth finger|base of proximal phalanx of fourth digit of hand FMA:37523 uberon owl:Class HP:0005825 biolink:NamedThing Mixed sclerosis of humeral metaphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025128 human_phenotype owl:Class HP:0031426 biolink:NamedThing Decreased circulating beta-C-terminal telopeptide level A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased circulating beta-CTx level|Decreased circulating beta-CrossLaps level 2017-09-16 11:22:56+00:00 peter owl:Class HP:0030410 biolink:NamedThing Sebaceous gland carcinoma A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance) tmpxe7fu0cj_hp_relaxed.owl Sebaceous carcinoma SNOMEDCT_US:54734006|UMLS:C0206684|SNOMEDCT_US:307599002|MSH:D018266 owl:Class HP:0025220 biolink:NamedThing Triggered by menstruation Applies to a sign or symptom that is provoked or brought about by menstruation in a female. tmpxe7fu0cj_hp_relaxed.owl Triggered by monthly period|Triggered by period|Menstruation triggered symptoms 2016-12-10 14:05:58+00:00 HPO:probinson owl:Class HP:0003125 biolink:NamedThing Reduced factor VIII activity Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. tmpxe7fu0cj_hp_relaxed.owl Factor VIII deficiency SNOMEDCT_US:234440005|MSH:D006467|UMLS:C4025649|UMLS:C3494187 HP:0008349|HP:0008355 human_phenotype owl:Class HP:0100874 biolink:NamedThing Thick hair Increased density of hairs, i.e., and elevated number of hairs per unit area. tmpxe7fu0cj_hp_relaxed.owl Thick hair|Increased follicular density|Increased hair density UMLS:C4073184 doelkens 2011-12-01T02:13:58Z human_phenotype owl:Class UBERON:0035529 biolink:NamedThing left common iliac artery tmpxe7fu0cj_hp_relaxed.owl trunk of left common iliac arterial tree NCIT:C32957|FMA:14766 uberon owl:Class HP:0030880 biolink:NamedThing Raynaud phenomenon tmpxe7fu0cj_hp_relaxed.owl Raynaud disease|Raynaud's phenomenon SNOMEDCT_US:266261006|UMLS:C0034735|MSH:D011928 Excessively reduced blood flow in response to cold or emotional stress, causing discolouration of the fingers, toes. owl:Class HP:0030016 biolink:NamedThing Dyspareunia Recurrent or persistent genital pain associated with sexual intercourse. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1384606|SNOMEDCT_US:71315007|MSH:D004414 Dyspareunia can develop secondary to medical problems such as vestibulitis, vaginal atrophy, or vaginal infection. It can be either physiologically or psychologically based, or a combination of the two. owl:Class HP:0001922 biolink:NamedThing Vacuolated lymphocytes The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. tmpxe7fu0cj_hp_relaxed.owl Enlarged lysosomal vacuoles in lymphocytes|Vacuolated blood lymphocytes UMLS:C1836855 Vacuolated lymphocytes occur most commonly as the peripheral blood manifestation of inherited metabolic disorders, including Niemann-Pick disease Type A, infantile sialic acid storage disorder, Wolman's disease, Mucolipidoses II and III, Salla disease, mannosidosis, Batten disease, GM1 gangliosidosis, neuraminidase deficiency, galactosidosis, fucosidosis, Pompe's disease, aspartylglycosaminuria and rarely, multiple sulfatase deficiency. The metabolic product, which causes vacuolation, depends on the specific enzyme deficiency. HP:0008329|HP:0008147 human_phenotype owl:Class HP:0010947 biolink:NamedThing Abnormality of ductus venosus blood flow A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023632 The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth. The typical abnormal finding in abnormal ductus venosus flow is a reversed a-wave. peter 2011-01-16T03:50:45Z human_phenotype owl:Class HP:0005233 biolink:NamedThing Hypoplasia of the gallbladder The presence of a hypoplastic gallbladder. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic gallbladder UMLS:C0345282|SNOMEDCT_US:93259002 human_phenotype owl:Class HP:0030306 biolink:NamedThing 11 thoracic vertebrae The presence of 11 instead of the normal 12 thoracic vertebrae. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022521 owl:Class HP:0010727 biolink:NamedThing Spontaneous rupture of the globe Rupture of the eyeball not due to trauma. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023719 sdoelken 2010-04-20T11:05:28Z human_phenotype owl:Class HP:0003678 biolink:NamedThing Rapidly progressive Applies to a disease manifestation that quickly increases in scope or severity over the course of time. tmpxe7fu0cj_hp_relaxed.owl Rapid progression|Rapidly progressive disorder|Worsening quickly UMLS:C1850776|UMLS:C1838681 owl:Class HP:0032086 biolink:NamedThing Aortic smooth muscle cell nuclei loss A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain. tmpxe7fu0cj_hp_relaxed.owl 2018-10-14 15:00:16+00:00 Smooth muscle cell nuclei loss replaces terms such as medionecrosis and smooth muscle cell necrosis that implied a loss of smooth muscle cells. While the loss of a nucleus suggests the loss of the entire cell, this is not easily appreciated on an hematoxylin and eosin stain stain. The shorter term smooth muscle cell loss was also considered by the consensus group and had many proponents, but the addition of nuclei was ultimately favored by the majority mostly as a histologic definition. Smooth muscle cell nuclei can be lost in patches or can be lost in a band-like pattern. This lesion can be noted in the absence of laminar medial collapse, described below. Both stains highlighting collagen and SMA immunohistochemistry can be used to highlight smooth muscle cell changes. peter owl:Class HP:0011263 biolink:NamedThing Forward facing earlobe Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear. tmpxe7fu0cj_hp_relaxed.owl Lobe, forward facing|Forward facing earlobe UMLS:C4021177 The lobe should be viewed from the front. This feature is distinct from the situation where the entire ear is forward facing and prominent. The lobe normally lies more or less in the same plane as the remainder of the ear. This feature should be distinguished from Uplifted lobe. peter 2011-12-18T06:50:34Z human_phenotype owl:Class HP:0011510 biolink:NamedThing Drusen Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:18695008|UMLS:C1260959 peter 2012-04-06T09:54:42Z human_phenotype owl:Class PATO:0001819 biolink:NamedThing atretic A morphological quality inhering in a bearer by virtue of the bearer's absence or closure of a normal body orifice or tubular passage. tmpxe7fu0cj_hp_relaxed.owl atresia quality owl:Class HP:0004432 biolink:NamedThing Agammaglobulinemia A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. tmpxe7fu0cj_hp_relaxed.owl Agammaglobulinaemia UMLS:C0001768|SNOMEDCT_US:119249001|MSH:D000361 peter 2008-03-18T09:47:00Z HP:0008328 human_phenotype owl:Class HP:0012883 biolink:NamedThing Fallopian tube cyst A fluid filled sac located in the Fallopian tube. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0269173|SNOMEDCT_US:59401005 hecht 2014-06-11T08:00:04Z human_phenotype owl:Class HP:0011060 biolink:NamedThing Dentinogenesis imperfecta limited to primary teeth Developmental dysplasia of dentin affecting only the primary dentition. tmpxe7fu0cj_hp_relaxed.owl Dentinogenesis imperfecta of baby teeth MSH:D003805|UMLS:C0011430|UMLS:C4023558|SNOMEDCT_US:109492001 peter 2011-03-11T12:26:32Z owl:Class HP:0011021 biolink:NamedThing Abnormality of circulating enzyme level tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023591 peter 2011-02-28T08:46:34Z human_phenotype owl:Class HP:0004453 biolink:NamedThing Overfolding of the superior helices A condition in which the superior portion of the helix is folded over to a greater degree than normal. tmpxe7fu0cj_hp_relaxed.owl Overfolding of superior helix UMLS:C1865304 human_phenotype owl:Class HP:0000396 biolink:NamedThing Overfolded helix A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. tmpxe7fu0cj_hp_relaxed.owl Over-folded helices|Overfolded ears|Overfolded helices UMLS:C1837731 This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable. HP:0008570|HP:0001758 human_phenotype owl:Class GO:1903999 biolink:NamedThing negative regulation of eating behavior Any process that stops, prevents or reduces the frequency, rate or extent of eating behavior. tmpxe7fu0cj_hp_relaxed.owl down regulation of eating behaviour|down-regulation of eating behavior|inhibition of eating behavior|downregulation of eating behavior|downregulation of eating behaviour|negative regulation of eating behaviour|down-regulation of eating behaviour|down regulation of eating behavior|inhibition of eating behaviour sl 2015-03-05T20:40:28Z biological_process owl:Class HP:0011144 biolink:NamedThing Age-related posterior subcapsular cataract A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023517 peter 2011-06-27T09:52:45Z human_phenotype owl:Class HP:0032323 biolink:NamedThing Periodic fever Episodic fever that recurs at regular intervals. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 11:54:22+00:00 peter owl:Class HP:0011853 biolink:NamedThing Serous pericardial effusion Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023160 hecht 2012-05-21T10:49:08Z owl:Class HP:0005539 biolink:NamedThing T cell chronic lymphocytic lymphoma/leukemia A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025181 human_phenotype owl:Class HP:0012066 biolink:NamedThing Increased urinary disaccharide excretion Increased concentration of disaccharide in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023062 Excess amount of disaccharides such as mannosyl-N-acetylglucosamine excreted in the urine. hecht 2012-08-04T02:54:28Z human_phenotype owl:Class HP:0100114 biolink:NamedThing Enlarged epiphysis of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the middle bone of the 2nd toe UMLS:C4022307 doelkens 2010-06-24T10:05:37Z human_phenotype owl:Class GO:0098657 biolink:NamedThing import into cell The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. tmpxe7fu0cj_hp_relaxed.owl uptake biological_process owl:Class HP:0011555 biolink:NamedThing Double inlet left ventricle The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:253283000|UMLS:C0344622|ICD-10:Q20.4|EPCC:01.04.04 peter 2012-04-07T11:53:33Z human_phenotype owl:Class HP:0007464 biolink:NamedThing Sparse facial hair Reduced number or density of facial hair. tmpxe7fu0cj_hp_relaxed.owl Sparse facial hair UMLS:C2017869 human_phenotype owl:Class HP:0002527 biolink:NamedThing Falls tmpxe7fu0cj_hp_relaxed.owl Falls UMLS:C0085639|SNOMEDCT_US:1912002|SNOMEDCT_US:161898004 human_phenotype owl:Class HP:0500249 biolink:NamedThing Abnormal circulating ethanolamine concentration Any deviation from the normal concentration of ethanolamine in circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormal ethanolamine levels in the blood 2019-02-26 16:08:51+00:00 owl:Class HP:0100025 biolink:NamedThing Overfriendliness A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction. tmpxe7fu0cj_hp_relaxed.owl Overfriendliness UMLS:C4022386 doelkens 2010-05-28T05:42:06Z human_phenotype owl:Class HP:0025670 biolink:NamedThing Syntelencephaly Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions. tmpxe7fu0cj_hp_relaxed.owl This condition differs from holoprosencephaly (HPE) in that the midline fusion in syntelencephaly is complete but segmental, while the structural brain anomalies seen in the HPE spectrum progress smoothly in severity in a posterior to anterior fusion. peterrobinson owl:Class HP:0410264 biolink:NamedThing Subglottic hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway. tmpxe7fu0cj_hp_relaxed.owl Airway hemangioma 2018-10-30 01:47:40+00:00 owl:Class HP:0032100 biolink:NamedThing Abnormal doll's eye reflex The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage. tmpxe7fu0cj_hp_relaxed.owl 2018-11-04 11:33:35+00:00 peter owl:Class HP:0033599 biolink:NamedThing Glomerular amyloid subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 14:44:51+00:00 peter owl:Class UBERON:0004511 biolink:NamedThing skeletal muscle tissue of rectus abdominis A portion of skeletal muscle tissue that is part of a rectus abdominis [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:261924 uberon owl:Class HP:0012652 biolink:NamedThing Exercise-induced asthma Asthma attacks following exercise. tmpxe7fu0cj_hp_relaxed.owl Exercise-induced asthma SNOMEDCT_US:31387002|UMLS:C0004099|MSH:D001250 peter 2014-02-12T10:42:14Z owl:Class HP:0031812 biolink:NamedThing Nitrituria Presence of nitrites in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-04-28 15:03:18+00:00 Nitrituria may be diagnosed on the basis of a positive test result on a urine dipstick test. Nitrites are not found in normal urine. Some gram-positive and gram-negative bacteria metabolize nitrates in urine to nitrites, and a positive urine dipstick test for nitrites most commonly suggests a bacterial urinary tract infection. peter owl:Class HP:0003642 biolink:NamedThing Type I transferrin isoform profile Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. tmpxe7fu0cj_hp_relaxed.owl Type 1 transferrin isoform profile|Abnormal isoelectric focusing of serum transferrin, type I pattern|Isoelectric focusing of serum transferrin consistent with CDG type I UMLS:C1837899 There are several methods in use with which this feature can be diagnosed. Using HPLC analysis an increased asialo- and disialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the mono-oligosaccharide/di-oligosaccharide transferrin ratio, and/or the a-oligosaccharide/di-oligosaccharide transferrin ratio are abnormal. human_phenotype owl:Class HP:0011414 biolink:NamedThing Hydropic placenta An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement. tmpxe7fu0cj_hp_relaxed.owl Hydrops of the placenta SNOMEDCT_US:75094005|UMLS:C0270254 peter 2012-03-15T10:07:47Z human_phenotype owl:Class HP:0006267 biolink:NamedThing Large placenta Increased size of the placenta. tmpxe7fu0cj_hp_relaxed.owl Large placenta|Placental enlargement SNOMEDCT_US:289263000|UMLS:C0566693 human_phenotype owl:Class HP:0033489 biolink:NamedThing Glomerular endocapillary neutrophil hypercellularity Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 12:57:48+00:00 peter owl:Class UBERON:0005413 biolink:NamedThing spinocerebellar tract This tract conveys interoceptive, proprioceptive, and exteroceptive information from the body's internal organs, and from the trunk, extremities, and neck region to the Cerebellum. tmpxe7fu0cj_hp_relaxed.owl BAMS:sc|MBA:85|MESH:D020824|DHBA:12749|NLX:60355|NLXANAT:1005036|GAID:733 http://upload.wikimedia.org/wikipedia/commons/b/b2/Spinal_cord_tracts_-_English.svg uberon owl:Class The spinocerebellar tract is a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. This tract conveys information to the cerebellum about limb and joint position[Wikipedia:Spinocerebellar_tract]. HP:0025682 biolink:NamedThing Crouch gait A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase. tmpxe7fu0cj_hp_relaxed.owl Crouch gait may be observed in individuals affected by cerebral palsy. peterrobinson owl:Class HP:0011622 biolink:NamedThing Inlet ventricular septal defect A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus. tmpxe7fu0cj_hp_relaxed.owl Type 3 ventricular septal defect|Atrioventricular canal type ventricular septal defect Fyler:1340 The muscular septum is a nonplanar structure that can be divided into inlet, trabecular, and infundibular components. The inlet portion is inferioposterior to the membranous septum. It begins at the level of the atrioventricular valves and ends at their chordal attachments apically. peter 2012-04-08T09:38:29Z owl:Class HP:0040288 biolink:NamedThing Nasogastric tube feeding The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0001980 biolink:NamedThing Megaloblastic bone marrow Abnormal increased number of megaloblasts in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0238801|SNOMEDCT_US:167921008 A megaloblast is an abnormally large nucleated red blood cell found especially in people with pernicious anemia. Megaloblasts, like their normal counterparts, normoblasts, are immature red cell precursors in the bone marrow. Megaloblasts display both a larger size than normoblasts as well as a fine reticular nuclear structure. human_phenotype owl:Class HP:0001129 biolink:NamedThing Large central visual field defect tmpxe7fu0cj_hp_relaxed.owl Large central loss of field of vision UMLS:C4025800 human_phenotype owl:Class HP:0040124 biolink:NamedThing Patent tuba eustachii tmpxe7fu0cj_hp_relaxed.owl Open tuba eustachii UMLS:C4021033 HPO:skoehler owl:Class PATO:0000016 biolink:NamedThing color brightness A scalar optical property that is the intensity, value or amount of perceived light. tmpxe7fu0cj_hp_relaxed.owl color intensity|color lightness|color value Color brightness refers to the intensity, lightness or value of the light present. Think of this as a dimmer switch. quality owl:Class HP:0100534 biolink:NamedThing Episcleritis Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye. tmpxe7fu0cj_hp_relaxed.owl Inflammation of the thin layer on top of the white part of eye UMLS:C0014583|MSH:D015423|SNOMEDCT_US:815008 In contrast to conjunctivitis, with episcleritis the inflammation is generally limited to isolated parts of the sclera and is not diffuse.One can observe dilated episcleral blood vessels between regions of white sclera. doelkens 2010-12-20T05:48:22Z human_phenotype owl:Class HP:0005523 biolink:NamedThing Lymphoproliferative disorder tmpxe7fu0cj_hp_relaxed.owl Lymphoproliferative disorders SNOMEDCT_US:277466009|SNOMEDCT_US:414629003|SNOMEDCT_US:84631004|MSH:D008232|SNOMEDCT_US:77121009|UMLS:C0024314 human_phenotype owl:Class HP:0009485 biolink:NamedThing Radial deviation of the hand or of fingers of the hand tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024337 doelkens 2009-01-15T10:49:51Z human_phenotype owl:Class HP:0003877 biolink:NamedThing Oval transradiancy of humerus tmpxe7fu0cj_hp_relaxed.owl Humeral oval transradiancy UMLS:C4025534 human_phenotype owl:Class UBERON:0000439 biolink:NamedThing arachnoid trabecula The arachnoid trabeculae are delicate strands of connective tissue that loosely connect the two innermost layers of the meninges -- the arachnoid mater and the pia mater. They are found within the subarachnoid space where cerebrospinal fluid is also found. Embryologically, the trabeculae are the remnants of the common precursor that forms both the arachnoid and pial layers of the meninges. tmpxe7fu0cj_hp_relaxed.owl trabecula arachnoideum|arachnoid trabeculae FMA:83979|BTO:0002500 uberon owl:Class HP:0002591 biolink:NamedThing Polyphagia A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. tmpxe7fu0cj_hp_relaxed.owl Voracious appetite|Hyperphagia|Increased appetite SNOMEDCT_US:72405004|UMLS:C0232461|UMLS:C0020505|MSH:D006963|SNOMEDCT_US:267023007|SNOMEDCT_US:58424009 HP:0002042|HP:0000724 human_phenotype owl:Class GO:0008354 biolink:NamedThing germ cell migration The orderly movement of a cell specialized to produce haploid gametes through the embryo from its site of production to the place where the gonads will form. tmpxe7fu0cj_hp_relaxed.owl germ-cell migration|primordial germ cell migration biological_process owl:Class UBERON:0004216 biolink:NamedThing lower arm nerve A nerve that is part of a lower arm [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37338|MA:0000601 uberon owl:Class HP:0011648 biolink:NamedThing Patent ductus arteriosus after birth at term Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023249 peter 2012-04-09T09:58:35Z human_phenotype owl:Class HP:0045003 biolink:NamedThing Abnormal ossification of the scaphoid tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022407 HPO:skoehler owl:Class HP:0001839 biolink:NamedThing Split foot A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. tmpxe7fu0cj_hp_relaxed.owl Split foot|Lobster-claw foot deformity|Foot ectrodactyly|Split-foot SNOMEDCT_US:205358006|UMLS:C0432028 HP:0003062|HP:0005904 human_phenotype owl:Class PATO:0001301 biolink:NamedThing chromatic property An optical quality that is the mixture, purity or pattern of wavelengths of light perceived by the observer. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0002847 biolink:NamedThing Impaired memory B cell generation Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025672 human_phenotype owl:Class HP:0031483 biolink:NamedThing Reduced contraction of the left ventricular apex Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 22:45:37+00:00 peter owl:Class HP:0031482 biolink:NamedThing Abnormal regional left ventricular contraction A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 22:44:18+00:00 peter owl:Class CHEBI:76726 biolink:NamedThing EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-OH group of donors (EC 1.1.*.*). tmpxe7fu0cj_hp_relaxed.owl inhibitor of oxidoreductase acting on CH-OH group of donor|EC 1.1.* inhibitor|inhibitors of oxidoreductase acting on CH-OH group of donor|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitors|EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitors|oxidoreductase acting on donor CH-OH group inhibitors|EC 1.1.* inhibitors|inhibitor of oxidoreductase acting on CH-OH group of donors|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitor|oxidoreductase acting on donor CH-OH group inhibitor|inhibitors of oxidoreductase acting on CH-OH group of donors chebi_ontology owl:Class HP:0033829 biolink:NamedThing Posterior mediastinal mass A type of inferior mediastinal mass that is located behind the pericardium. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:30:13+00:00 peter owl:Class HP:0000712 biolink:NamedThing Emotional lability Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances. tmpxe7fu0cj_hp_relaxed.owl Mood changes|Mood alterations|Mood lability|Emotional instability UMLS:C0085633|SNOMEDCT_US:18963009 HP:0001575|HP:0008766 owl:Class HP:0025595 biolink:NamedThing Superior oblique muscle underaction Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. tmpxe7fu0cj_hp_relaxed.owl Under-depression in adduction 2018-01-13 20:46:33+00:00 HPO:probinson owl:Class HP:0001963 biolink:NamedThing Abnormal speech discrimination A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. tmpxe7fu0cj_hp_relaxed.owl Abnormal speech discrimination|Poor speech discrimination UMLS:C1836752 human_phenotype owl:Class GO:0071625 biolink:NamedThing vocalization behavior tmpxe7fu0cj_hp_relaxed.owl owl:Class BFO:0000001 biolink:NamedThing entity tmpxe7fu0cj_hp_relaxed.owl Entity entity Entity doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example Werner Ceusters 'portions of reality' include 4 sorts, entities (as BFO construes them), universals, configurations, and relations. It is an open question as to whether entities as construed in BFO will at some point also include these other portions of reality. See, for example, 'How to track absolutely everything' at http://www.referent-tracking.com/_RTU/papers/CeustersICbookRevised.pdf|BFO 2 Reference: In all areas of empirical inquiry we encounter general terms of two sorts. First are general terms which refer to universals or types:animaltuberculosissurgical procedurediseaseSecond, are general terms used to refer to groups of entities which instantiate a given universal but do not correspond to the extension of any subuniversal of that universal because there is nothing intrinsic to the entities in question by virtue of which they – and only they – are counted as belonging to the given group. Examples are: animal purchased by the Emperortuberculosis diagnosed on a Wednesdaysurgical procedure performed on a patient from Stockholmperson identified as candidate for clinical trial #2056-555person who is signatory of Form 656-PPVpainting by Leonardo da VinciSuch terms, which represent what are called ‘specializations’ in [81 An entity is anything that exists or has existed or will exist. (axiom label in BFO2 Reference: [001-001]) Julius Caesar|your body mass index|Verdi’s Requiem|the Second World War owl:Class GO:0006547 biolink:NamedThing histidine metabolic process The chemical reactions and pathways involving histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid. tmpxe7fu0cj_hp_relaxed.owl histidine metabolism Wikipedia:Histidine biological_process owl:Class HP:0003736 biolink:NamedThing Autophagic vacuoles The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0544966 human_phenotype owl:Class UBERON:0004926 biolink:NamedThing submucosa of cystic duct A submucosa that is part of a cystic duct [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl cystic ductal submucosa|cystic duct submucosa FMA:18013 uberon owl:Class HP:0010888 biolink:NamedThing Morbus Koehler Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023674 sdoelken 2010-09-25T11:04:19Z human_phenotype owl:Class HP:0030477 biolink:NamedThing Abnormal timing of dark-adapted bright flash electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072967 owl:Class HP:0030133 biolink:NamedThing Abnormal presence of ultra-large von Willebrand factor multimers Detection of abnormal ultra-large von Willebrand factor multimers. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022615 The type Vicenza variant of von Willebrand disease (VWD) is characterized by a low plasma von Willebrand factor (VWF) level and supranormal VWF multimers. owl:Class UBERON:0005115 biolink:NamedThing metanephric cortical collecting duct The metanephric cortical collecting duct is the portion of the metanephric collecting duct that resides in the renal cortex[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0030842 biolink:NamedThing Choking episodes Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280747 owl:Class HP:0001483 biolink:NamedThing Eye poking Repetitive pressing, poking, and/or rubbing in the eyes. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:78894008|UMLS:C0233593 Eye poking is usually observed in children with an intellectual and visual handicap. human_phenotype owl:Class GO:0036075 biolink:NamedThing replacement ossification Ossification that requires the replacement of a preexisting tissue prior to bone tissue formation. tmpxe7fu0cj_hp_relaxed.owl indirect ossification bf 2011-12-19T01:53:16Z biological_process owl:Class HP:0010638 biolink:NamedThing Elevated alkaline phosphatase of hepatic origin An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated ALP of hepatic origin UMLS:C4023764 doelkens 2009-12-11T03:47:19Z owl:Class HP:0001847 biolink:NamedThing Long hallux Increased length of the big toe. tmpxe7fu0cj_hp_relaxed.owl Long big toe|Large halluces|Long halluces|Increased length of the hallux UMLS:C1864375 HP:0001867 human_phenotype owl:Class HP:0031971 biolink:NamedThing Subaortic ventricular septal bulge A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy. tmpxe7fu0cj_hp_relaxed.owl 2018-07-07 23:58:07+00:00 Subaortic ventricular septal bulge has been considered mainly as an incidental finding associated with older age and hypertension, although some authors have suggested that it may be part of the spectrum of hypertrophic cardiomyopathy, may determine some degree of left ventricular (LV) obstruction, which in turn may potentially cause symptoms such as syncope and dyspnea on effort. peter owl:Class HP:0025377 biolink:NamedThing Triggered by exertion Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise. tmpxe7fu0cj_hp_relaxed.owl Exertion triggered symptoms|Triggered by physical exercise 2017-04-08 13:36:52+00:00 For convenience, several HPO terms exist with the phrase 'Exercise-induced' in their label. This is meant to be logically equvalent to the combination of the basis term and this modifier. HPO:probinson owl:Class HP:0000845 biolink:NamedThing Elevated circulating growth hormone concentration Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating somatotropin concentration|Somatotropin excess|Growth hormone excess UMLS:C0001206|SNOMEDCT_US:74107003|MSH:D000172|MSH:C531600|UMLS:C0235986 Disorder resulting from excess pituitary gland production of growth hormone (hGH). HP:0008856 owl:Class UBERON:0003848 biolink:NamedThing gonadal vein In medicine, gonadal vein refers to the blood vessel that carrying blood away from the gonad (testis, ovary) toward the heart. Females : ovarian vein Males : testicular vein [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl vein of gonad|gonad vein|gonada vein|vein of gonada EHDAA2:0000719|EHDAA:8703|SCTID:278192008|Wikipedia:Gonadal_vein|VHOG:0001340|OpenCyc:Mx4rvlWYh5wpEbGdrcN5Y29ycA http://upload.wikimedia.org/wikipedia/commons/d/da/Gray1120.png uberon owl:Class HP:0003637 biolink:NamedThing Reduced 4-Hydroxyphenylpyruvate dioxygenase level An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level. tmpxe7fu0cj_hp_relaxed.owl Reducted HPPD activity UMLS:C4025587 Note: 4-hydroxyphenylpyruvate dioxygenase corresponds to EC 1.13.11.27. 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria. human_phenotype owl:Class UBERON:0003847 biolink:NamedThing thyroid artery An artery that supplies a thyroid gland. tmpxe7fu0cj_hp_relaxed.owl EHDAA:7372|MA:0002066|EHDAA2:0002029|EMAPA:18622|AAO:0010490|NCIT:C53020|UMLS:C1711424|VHOG:0001366 uberon owl:Class Part of the external carotid which supplies blood to the thyroid gland.[AAO] relationship loss: part_of external carotid (AAO:0010218)[AAO] UBERON:0007725 biolink:NamedThing interphalangeal joint of pedal digit 2 An interphalangeal joint of pes that is part of a pedal digit 2. tmpxe7fu0cj_hp_relaxed.owl interphalangeal joint of second digit of foot|interphalangeal joint of second toe|interphalangeal joint of pedal digit II EMAPA:26448|FMA:35356 uberon owl:Class CHEBI:33576 biolink:NamedThing sulfur-containing carboxylic acid Any carboxylic acid having a sulfur substituent. tmpxe7fu0cj_hp_relaxed.owl S-containing carboxylic acid|sulfur-containing carboxylic acids|S-containing carboxylic acids chebi_ontology owl:Class UBERON:0014621 biolink:NamedThing cervical spinal cord ventral horn A ventral horn of spinal cord that is part of a cervical spinal cord. tmpxe7fu0cj_hp_relaxed.owl cervical spinal cord ventral horn|cervical spinal cord anterior horn UMLS:C0228615|SCTID:174363005|UMLS:C1278740|BIRNLEX:1680 uberon owl:Class PR:000007812 biolink:NamedThing UDP-glucose 4-epimerase A protein that is a translation product of the human GALE gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl galactowaldenase|UDP-GlcNAc 4-epimerase|UDP-GalNAc 4-epimerase|UDP-N-acetylglucosamine 4-epimerase|GALE|UDP-galactose 4-epimerase Category=gene. protein owl:Class HP:0100788 biolink:NamedThing Fused lips Lack of separation of the upper and lower lips. tmpxe7fu0cj_hp_relaxed.owl Adhesion of upper and lower lips|Fused lips|Fusion of upper and lower lips UMLS:C4021970 doelkens 2011-06-08T02:16:16Z human_phenotype owl:Class HP:0012098 biolink:NamedThing Edema of the dorsum of feet An abnormal accumulation of fluid beneath the skin on the back of the feet. tmpxe7fu0cj_hp_relaxed.owl Oedema of the dorsum of feet|Oedema of dorsum of feet|Edema of dorsum of feet SNOMEDCT_US:445124008|UMLS:C2919341 peter 2012-08-20T09:33:33Z human_phenotype owl:Class HP:0100027 biolink:NamedThing Recurrent pancreatitis A recurrent form of pancreatitis. tmpxe7fu0cj_hp_relaxed.owl Recurring pancreas inflammation|Recurring pancreatitis SNOMEDCT_US:234689009|SNOMEDCT_US:235494005|MSH:D050500|SNOMEDCT_US:233870001|UMLS:C0149521 doelkens 2010-06-01T01:45:23Z human_phenotype owl:Class HP:0007899 biolink:NamedThing Retinal nonattachment Failure of attachment of the retina during development. tmpxe7fu0cj_hp_relaxed.owl Congenital retinal non-attachment UMLS:C4021563 HP:0007849 human_phenotype owl:Class CHEBI:76823 biolink:NamedThing EC 6.3.1.* (acid-ammonia/amine ligase) inhibitor An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of any acid-ammonia (or amine) ligase (EC 6.3.1.*). tmpxe7fu0cj_hp_relaxed.owl acid-ammonia (or amine) ligase inhibitor|EC 6.3.1.* inhibitors|acid-ammonia (or amine) ligase inhibitors|EC 6.3.1.* inhibitor|EC 6.3.1.* (acid-ammonia/amine ligase) inhibitors chebi_ontology owl:Class GO:1905453 biolink:NamedThing regulation of myeloid progenitor cell differentiation Any process that modulates the frequency, rate or extent of myeloid progenitor cell differentiation. tmpxe7fu0cj_hp_relaxed.owl rz 2016-09-16T12:32:18Z biological_process owl:Class HP:0032879 biolink:NamedThing Focal impaired awareness seizure with dissociation at onset A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032689 biolink:NamedThing Focal cognitive seizure with dissociation A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011302 biolink:NamedThing Long palm For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length. tmpxe7fu0cj_hp_relaxed.owl Long palm UMLS:C4023422 hecht 2012-02-12T10:20:56Z HP:0001502 human_phenotype owl:Class CHEBI:23824 biolink:NamedThing diol A compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic. Aliphatic diols are also called glycols. tmpxe7fu0cj_hp_relaxed.owl diols Wikipedia:Diol chebi_ontology owl:Class GO:0042611 biolink:NamedThing MHC protein complex A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0002593 biolink:NamedThing Intestinal lymphangiectasia Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0024215|SNOMEDCT_US:197260007|MSH:D008201 human_phenotype owl:Class UBERON:8300000 biolink:NamedThing skin of scalp A zone of skin that is part of a scalp. tmpxe7fu0cj_hp_relaxed.owl zone of skin of scalp|zone of skin of adult scalp|adult scalp zone of skin|scalp zone of skin|scalp skin FMA:24757 http://orcid.org/0000-0001-9897-3238 uberon owl:Class HP:0012267 biolink:NamedThing Absent respiratory ciliary axoneme radial spokes Absence of the radial spokes of the axoneme of the respiratory cilium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022981 peter 2013-04-07T01:56:53Z human_phenotype owl:Class NBO:0000128 biolink:NamedThing irritability behavior "Behavior characterized by a quick excitability to annoyance, impatience, or anger." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-03-31T12:16:00Z George Gkoutos behavior_ontology owl:Class HP:0004850 biolink:NamedThing Recurrent deep vein thrombosis Repeated episodes of the formation of a blot clot in a deep vein. tmpxe7fu0cj_hp_relaxed.owl Recurrent deep vein blood clot|Recurrent venous thrombosis SNOMEDCT_US:710167004|UMLS:C1735901 human_phenotype owl:Class HP:0020161 biolink:NamedThing Branch retinal artery occlusion Blockage of a branch of the retinal artery. This can cause loss of a section of visual field. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-06 20:57:42+00:00 owl:Class HP:0006147 biolink:NamedThing Progressive fusion 2nd-5th pip joints tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861310 human_phenotype owl:Class NCBITaxon:4890 biolink:NamedThing Ascomycota tmpxe7fu0cj_hp_relaxed.owl sac fungi|ascomycetes PMID:17572334|GC_ID:1 ncbi_taxonomy owl:Class HP:0011311 biolink:NamedThing Sydney crease Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023420 The proximal transverse (five finger) crease starts on the radial side of the hand near the base of the index finger and extends toward the ulnar side of the palm, but does not reach the ulnar side. In this finding, the crease extends completely to the ulnar margin of the palm. hecht 2012-02-12T12:58:13Z human_phenotype owl:Class UBERON:0014439 biolink:NamedThing inferior pubic ramus The inferior pubic ramus is thin and flattened. It passes lateralward and downward from the medial end of the superior ramus; it becomes narrower as it descends and joins with the inferior ramus of the ischium below the obturator foramen. tmpxe7fu0cj_hp_relaxed.owl inferior ramus of pubis|inferior rami of the pubes|inferior ramus of the pubis FMA:16989 uberon owl:Class HP:0031545 biolink:NamedThing Abnormally low T cell receptor excision circle level Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 22:20:27+00:00 T-cell receptor excision circle (TRECs) are extrachromosomal DNA byproducts of T-cell receptor rearrangement and are nonreplicative. TREC analysis provides a very specific assessment of T-cell recovery (eg, after hematopoietic cell transplantation) or numerical T-cell competence peter owl:Class GO:0072537 biolink:NamedThing fibroblast activation A change in the morphology or behavior of a fibroblast resulting from exposure to an activating factor such as a cellular or soluble ligand. tmpxe7fu0cj_hp_relaxed.owl mah 2011-01-14T04:35:08Z biological_process owl:Class HP:0003755 biolink:NamedThing Type 1 fibers relatively smaller than type 2 fibers The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers. tmpxe7fu0cj_hp_relaxed.owl Type 1 fibres relatively smaller than type 2 fibres UMLS:C4025571 This feature can only be observed on muscle biopsy. human_phenotype owl:Class HP:0030873 biolink:NamedThing Anti-centromere antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components. tmpxe7fu0cj_hp_relaxed.owl Anticentromere antibody positivity|ACA positivity|Anti-centromere antibody positivity UMLS:C4280732 Anti-centromere antibodies are typically associated with pulmonary arterial hypertension and the limited cutaneous form of systemic sclerosis. owl:Class HP:0031762 biolink:NamedThing Distance esotropia An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging. tmpxe7fu0cj_hp_relaxed.owl Divergence insufficiency 2018-01-21 14:47:19+00:00 peter owl:Class CHEBI:132966 biolink:NamedThing hippurate An N-acylglycinate obtained by deprotonation of the carboxy group of hippuric acid (N-benzoylglycine) and its derivatives. tmpxe7fu0cj_hp_relaxed.owl N-benzoylglycinates|N-benzoylglycine anion|N-benzoylglycine anions|hippurates|N-benzoylglycinate chebi_ontology owl:Class HP:0030432 biolink:NamedThing Chondroblastoma A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0008441|SNOMEDCT_US:9001003|MSH:D002804 Chondroblastomas of bone are rare benign bone tumours, arising at the cartilaginous growth plate, representing approximately 1-2% of all bone tumors. The most common sites are the proximal humerus and the proximal tibia, but the third most common site is the proximal femur. Histologically, the tumour consists predominantly of well-defined polygonal chondroblast-type cells similar to epiphyseal chondrocytes, with large nucleoli and benign-looking nuclei that have a tendency to be multilobulate and have a continuous dense band of substance along the inner nuclear membrane, intra-cytoplasmic inclusions of glycogen and lipids, numerous mitochondria and superficial secretion vesicles arising from a well developed rough endoplasmic reticulum. There are multi-nucleated giant cells, foci of chondroid matrix, with focal calcification that may acquire a "chicken wire" appearance. Aneurysmal bone cysts are associated with chondroblastoma in 14% of cases. owl:Class HP:0003444 biolink:NamedThing EMG: chronic denervation signs Evidence of chronic denervation on electromyography. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025614 This is a bundled term that is kept for convenience. It is preferable to annotate the precise clinical abnormalities observed. HP:0007059 human_phenotype owl:Class HP:0003445 biolink:NamedThing EMG: neuropathic changes The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). tmpxe7fu0cj_hp_relaxed.owl EMG: neurogenic changes|EMG: neurogenic findings|EMG: neurogenic abnormalities UMLS:C4021727 This is a bundled term. It is preferable to annotate the precise clinical observations, but the term is kept now for convenience. HP:0002178|HP:0002547|HP:0007279 human_phenotype owl:Class HP:0008855 biolink:NamedThing Moderate postnatal growth retardation A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms. tmpxe7fu0cj_hp_relaxed.owl Moderate growth delay in children UMLS:C4024616 human_phenotype owl:Class PATO:0000969 biolink:NamedThing dwarf-like A size quality inhering in a bearer by virtue of the bearer's being abnormally small. tmpxe7fu0cj_hp_relaxed.owl dwarfed quality owl:Class HP:0007289 biolink:NamedThing Limb fasciculations Fasciculations affecting the musculature of the arms and legs. tmpxe7fu0cj_hp_relaxed.owl Limb fasciculation UMLS:C1854657 HP:0007049 human_phenotype owl:Class HP:0031587 biolink:NamedThing Tessier number 30 facial cleft A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis. tmpxe7fu0cj_hp_relaxed.owl 2017-10-14 12:58:17+00:00 peter owl:Class HP:0030716 biolink:NamedThing Acrania Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0702169|SNOMEDCT_US:203923004|MSH:D009436 owl:Class HP:0032008 biolink:NamedThing Pulmonary fat embolism The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung. tmpxe7fu0cj_hp_relaxed.owl Fat embolism 2018-07-17 13:39:35+00:00 peter owl:Class HP:0033911 biolink:NamedThing Cortical radial artery medial hypertrophy Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. tmpxe7fu0cj_hp_relaxed.owl Medial hypertrophy within interlobular arteries|Interlobular artery medial hypertrophy 2021-06-23 23:07:07+00:00 peter owl:Class CL:1001567 biolink:NamedThing lung endothelial cell tmpxe7fu0cj_hp_relaxed.owl endothelial cell of lung|pulmonary vessel endothelial cell cl owl:Class HP:0040303 biolink:NamedThing Decreased serum iron tmpxe7fu0cj_hp_relaxed.owl Low serum iron owl:Class HP:0012886 biolink:NamedThing Hemorrhagic ovarian cyst An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0473311|SNOMEDCT_US:119420007 The clinical signs and symptoms of hemorrhagic ovarian cyst (HOC) are variable and include such patients as asymptomatic cases or patients showing symptoms of acute abdomen. HOC is detected as pelvic masses by ultrasonography, but it is often misdiagnosed with other organic masses because of its variable clinical and sonographic findings, and in some cases may lead to laparotomy. hecht 2014-06-11T09:26:15Z human_phenotype owl:Class HP:0001136 biolink:NamedThing Retinal arteriolar tortuosity The presence of an increased number of twists and turns of the retinal arterioles. tmpxe7fu0cj_hp_relaxed.owl Tortuous retinal arterioles UMLS:C1843517 human_phenotype owl:Class CHEBI:50745 biolink:NamedThing progestogen A compound that interacts with progesterone receptors in target tissues to bring about effects similar to those of progesterone. tmpxe7fu0cj_hp_relaxed.owl gestagens|progestogens|progestagen|progestagens|gestagen chebi_ontology owl:Class GO:0021616 biolink:NamedThing glossopharyngeal nerve formation The process that gives rise to the glossopharyngeal nerve. This process pertains to the initial formation of a structure from unspecified parts. Various sensory and motor branches of the glossopharyngeal nerve supply nerve connections to the pharynx and back of the tongue. The branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion. tmpxe7fu0cj_hp_relaxed.owl CN IX biosynthesis|CN IX formation biological_process owl:Class HP:0001402 biolink:NamedThing Hepatocellular carcinoma A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. tmpxe7fu0cj_hp_relaxed.owl Increased hepatocellular carcinoma risk|Increased incidence of hepatocellular carcinoma SNOMEDCT_US:109841003|UMLS:C2239176|MSH:D006528|UMLS:C1867955|SNOMEDCT_US:25370001|SNOMEDCT_US:187769009|NCIT:C3099|UMLS:C1862761 Hepatocellular carcinoma may be associated with hepatitis B virus infection and cirrhosis or alcoholic cirrhosis. HP:0002899|HP:0003007|HP:0006750 human_phenotype owl:Class HP:0008110 biolink:NamedThing Equinovarus deformity tmpxe7fu0cj_hp_relaxed.owl UMLS:C0009081|MSH:D003025|SNOMEDCT_US:249808002|SNOMEDCT_US:397932003 human_phenotype owl:Class HP:0040054 biolink:NamedThing Short upper eyelashes tmpxe7fu0cj_hp_relaxed.owl Decreased length of upper eyelashes|Short upper eyelashes UMLS:C4022464 HPO:skoehler owl:Class HP:0008223 biolink:NamedThing Compensated hypothyroidism Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4). tmpxe7fu0cj_hp_relaxed.owl Subclinical hypothyroidism|Mild hypothyroidism UMLS:C0342162|SNOMEDCT_US:237523006 human_phenotype owl:Class CHEBI:2580 biolink:NamedThing unsaturated fatty acid anion Any fatty acid anion containing at least one C-C unsaturated bond; formed by deprotonation of the carboxylic acid moiety. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0040226 biolink:NamedThing Decreased level of heparin co-factor II An abnormality of coagulation related to a decreased concentration of heparin co-factor II tmpxe7fu0cj_hp_relaxed.owl Heparin co-factor II deficiency UMLS:C4280717 Requested and created by members of the BRIDGE consortium owl:Class HP:0003561 biolink:NamedThing Birth length less than 3rd percentile tmpxe7fu0cj_hp_relaxed.owl Birth length <3rd percentile|Birth length < 3rd percentile UMLS:C1855650 human_phenotype owl:Class HP:0030228 biolink:NamedThing Abnormal muscle fiber valosin-containing protein A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre valosin-containing protein UMLS:C4022570 owl:Class UBERON:0004508 biolink:NamedThing skeletal muscle tissue of levator palpebrae superioris A portion of skeletal muscle tissue that is part of a levator palpebrae superioris [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl FMA:261782 uberon owl:Class HP:0011559 biolink:NamedThing Double inlet to single ventricle with two atrioventricular valves tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023299 peter 2012-04-07T12:02:15Z human_phenotype owl:Class GO:0045983 biolink:NamedThing positive regulation of purine nucleobase metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving purine bases. tmpxe7fu0cj_hp_relaxed.owl up regulation of purine base metabolic process|upregulation of purine base metabolic process|activation of purine base metabolic process|positive regulation of purine base metabolic process|up-regulation of purine base metabolic process|stimulation of purine base metabolic process|positive regulation of purine base metabolism biological_process owl:Class HP:0011067 biolink:NamedThing Mesiodens A supernumerary tooth in the midline between the maxillary central incisors. tmpxe7fu0cj_hp_relaxed.owl Mesiodentes|Median supernumary tooth|Midline supernumary tooth|Extra tooth in the midline|Extra tooth SNOMEDCT_US:266414008|UMLS:C0266030|SNOMEDCT_US:17802000|SNOMEDCT_US:8666004|MSH:D014096|UMLS:C4280340|UMLS:C0040457|SNOMEDCT_US:367534004 A mesiodens is not a supernumerary incisor (i.e., it does not have the morphology of an incisor). Rather, it is a conoid, extra tooth located between the maxillary central incisors. Mesiodens is the most common supernumerary tooth. Typically, they are small. They are usually conical in shape but may have heterogeneous forms. Mesiodens may remain unerupted and cause failure of a permanent incisor to erupt. Mesiodens may develop in an inverted position. peter 2011-03-10T02:38:59Z owl:Class HP:0002218 biolink:NamedThing Silver-gray hair Hypopigmented hair that appears silver-gray. tmpxe7fu0cj_hp_relaxed.owl Silver-gray hair|Silvery-gray hair|Silver-gray hair colour|Silver-gray hair color UMLS:C1836576 human_phenotype owl:Class HP:0005193 biolink:NamedThing Restricted large joint movement tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025241 human_phenotype owl:Class HP:0031733 biolink:NamedThing Reflex tearing A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease). tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 13:32:30+00:00 peter owl:Class HP:0032987 biolink:NamedThing Elevated bronchoalveolar lavage fluid eosinophil proportion Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0004736 biolink:NamedThing pyruvate carboxylase activity Catalysis of the reaction: ATP + bicarbonate + pyruvate = ADP + 2 H(+) + oxaloacetate + phosphate. tmpxe7fu0cj_hp_relaxed.owl pyruvate:carbon-dioxide ligase (ADP-forming)|pyruvic carboxylase activity MetaCyc:PYRUVATE-CARBOXYLASE-RXN|EC:6.4.1.1|Reactome:R-HSA-70501|KEGG_REACTION:R00344|RHEA:20844 molecular_function owl:Class GO:0016885 biolink:NamedThing ligase activity, forming carbon-carbon bonds Catalysis of the joining of two molecules via a carbon-carbon bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpxe7fu0cj_hp_relaxed.owl EC:6.4.-.- molecular_function owl:Class HP:0005054 biolink:NamedThing Metaphyseal spurs Bony outgrowths that extend laterally from the margin of the metaphysis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1832988 HP:0005088 human_phenotype owl:Class HP:0030965 biolink:NamedThing Aortic stiffness The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension. tmpxe7fu0cj_hp_relaxed.owl Increased aortic stiffness 2017-04-18 13:16:10+00:00 robinp owl:Class HP:0033182 biolink:NamedThing Increased circulating cathepsin D level An increase in concentration of cathepsin D in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-09-28 22:29:16+00:00 peter owl:Class HP:0012833 biolink:NamedThing Unilateral Being present on only the left or only the right side of the body. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0205092|SNOMEDCT_US:66459002 peter 2014-06-06T07:21:12Z human_phenotype owl:Class GO:1902221 biolink:NamedThing erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process The chemical reactions and pathways involving erythrose 4-phosphate/phosphoenolpyruvate family amino acid. tmpxe7fu0cj_hp_relaxed.owl erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolism pr 2013-06-13T10:37:38Z biological_process owl:Class HP:0045059 biolink:NamedThing Hyperkeratotic papule A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically). tmpxe7fu0cj_hp_relaxed.owl UMLS:C2047516 owl:Class HP:0006391 biolink:NamedThing Overtubulated long bones Overconstriction, or narrowness of the diaphysis and metaphysis of long bones. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1848769 human_phenotype owl:Class HP:0002944 biolink:NamedThing Thoracolumbar scoliosis tmpxe7fu0cj_hp_relaxed.owl Scoliosis, thoracolumbar UMLS:C0749379 HP:0004585|HP:0004567 human_phenotype owl:Class HP:0004948 biolink:NamedThing Vascular tortuosity Abnormal twisting of arteries or veins. tmpxe7fu0cj_hp_relaxed.owl Twisted blood vessels UMLS:C2673776 human_phenotype owl:Class GO:0010608 biolink:NamedThing posttranscriptional regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class NBO:0000389 biolink:NamedThing reflexive behavior "Behavior related to involuntary movement in response to a stimulus." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl reflex behaviour 2011-04-06T02:36:55Z George Gkoutos NBO:0000004 behavior_ontology owl:Class CL:0000825 biolink:NamedThing pro-NK cell A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative. tmpxe7fu0cj_hp_relaxed.owl null cell|NKP|pro-natural killer cell|natural killer cell progenitor|preNK cell Most markers only described for human pro NK cells. cell owl:Class HP:0031450 biolink:NamedThing Polycyclic A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 15:00:02+00:00 peter owl:Class HP:0006408 biolink:NamedThing Distal tapering femur tmpxe7fu0cj_hp_relaxed.owl Tapering of outermost end of thighbone UMLS:C4025049 owl:Class HP:0020050 biolink:NamedThing Anti-granulocyte-macrophage colony stimulating factor antibody positivity The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor. tmpxe7fu0cj_hp_relaxed.owl Anti-GM-CSF antibody positivity 2017-12-22 15:05:06+00:00 Anti-granulocyte macrophage-colony stimulating factor (GM-CSF) autoantibodies have been shown to cause acquired pulmonary alveolar proteinosis (PAP)(1, 2), a chronic lung disease characterized by abnormalities of surfactant metabolism. robinp owl:Class HP:0031519 biolink:NamedThing Cauliflower deformity of dermal collagen fibrils An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy. tmpxe7fu0cj_hp_relaxed.owl 2017-09-22 02:32:20+00:00 peter owl:Class HP:0031928 biolink:NamedThing True ependymal rosette A type of rosette in which a halo of cells surrounds an empty lumen. tmpxe7fu0cj_hp_relaxed.owl 2018-07-04 13:28:48+00:00 In contrast to the Homer Wright and the Flexner-Wintersteiner rosettes, the empty-appearing lumen of the true ependymal rosette resembles a tubule lumen and contains no fiber-rich neuropil or central cytoplasmic projections. These tubule-like structures, as well as more elongated versions known as ependymal canals, may represent an attempt by the tumor cells to recapitulate the formation of ventricles with ependymal linings. peter owl:Class HP:0031208 biolink:NamedThing Increased pituitary glycoprotein hormone alpha subunit level An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. tmpxe7fu0cj_hp_relaxed.owl Increased pituitary glycoprotein polypeptide alpha subunit level|Increased pituitary glycoprotein alpha subunit level 2017-07-02 10:50:16+00:00 peter owl:Class HP:0033264 biolink:NamedThing Enlarged platelet dense granules Increased size of platelet dense granules. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 15:12:09+00:00 peter owl:Class HP:0003966 biolink:NamedThing Sclerotic foci in forearm bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025473 human_phenotype owl:Class HP:0009795 biolink:NamedThing Branchial fistula A congenital fistula in the neck resulting from incomplete closure of a branchial cleft. tmpxe7fu0cj_hp_relaxed.owl Branchial cleft fistula SNOMEDCT_US:204268008|UMLS:C0546968 peter 2009-02-11T05:17:12Z human_phenotype owl:Class HP:0003551 biolink:NamedThing Difficulty climbing stairs Reduced ability to climb stairs. tmpxe7fu0cj_hp_relaxed.owl Difficulty walking up stairs SNOMEDCT_US:282195009|UMLS:C0239067 HP:0007019 owl:Class HP:0007607 biolink:NamedThing Hypohidrotic ectodermal dysplasia tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:7731005|MSH:D053358|UMLS:C0162359|SNOMEDCT_US:239007005 human_phenotype owl:Class HP:0005752 biolink:NamedThing Flattened moderately deformed vertebrae tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025142 human_phenotype owl:Class HP:0007720 biolink:NamedThing Flat cornea Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age. tmpxe7fu0cj_hp_relaxed.owl Cornea plana UMLS:C0344529|SNOMEDCT_US:204145006 human_phenotype owl:Class HP:0032272 biolink:NamedThing Elevated urinary N-acetylaspartic acid level Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 21:01:43+00:00 Although NAA concentration is also elevated in the blood and cerebrospinal fluid (CSF) of children with neonatal/infantile (severe) Canavan disease, elevated concentration of NAA in urine is sufficient for diagnosis of affected individuals. peter owl:Class HP:0033396 biolink:NamedThing Glomerular extracapillary fibrin Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 14:19:16+00:00 Extracapillary fibrin can be associated with glomerular basement membrane (GBM) disruption. In this context, the word aextracapillary refers to abnormalities seen in Bowman's space outside of the GBM. peter owl:Class HP:0030325 biolink:NamedThing Cervicomedullary schisis Fissure within the spinal cord of the neck. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022510 owl:Class HP:0005273 biolink:NamedThing Absent nasal septal cartilage Lack of the cartilage of the nasal septum. tmpxe7fu0cj_hp_relaxed.owl Ageneis of nasal septal cartilage|Failure of development of nasal septal cartilage|Absent nasal septum|Absent nasal septal cartilage UMLS:C4021638|UMLS:C4280501 owl:Class HP:0000403 biolink:NamedThing Recurrent otitis media Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. tmpxe7fu0cj_hp_relaxed.owl Multiple episodes of otitis media|Susceptibility to otitis media|Otitis media, recurrent|Recurrent episodes of otitis media|Recurrent middle ear infection|Frequent otitis media UMLS:C0747085 HP:0008624|HP:0008623|HP:0008622 human_phenotype owl:Class HP:0030682 biolink:NamedThing Left ventricular noncompaction Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1960469 owl:Class CHEBI:17453 biolink:NamedThing methylmalonate(2-) A C4-dicarboxylate resulting from the removal of a proton from both carboxylic acid groups of methylmalonic acid. tmpxe7fu0cj_hp_relaxed.owl methylmalonate dianion|methylmalonate|methylpropanedioate -2 C4H4O4 InChI=1S/C4H6O4/c1-2(3(5)6)4(7)8/h2H,1H3,(H,5,6)(H,7,8)/p-2 ZIYVHBGGAOATLY-UHFFFAOYSA-L 116.07216 116.01206 CC(C([O-])=O)C([O-])=O Gmelin:142212|Beilstein:3904597|KEGG:C02170|MetaCyc:CPD-546|Reaxys:3904597 CHEBI:14603|CHEBI:25317 chebi_ontology owl:Class HP:0007438 biolink:NamedThing Mottled pigmentation of the trunk and proximal extremities tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851551 human_phenotype owl:Class HP:0007658 biolink:NamedThing Large hyperpigmented retinal spots tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024820 human_phenotype owl:Class HP:0001982 biolink:NamedThing Sea-blue histiocytosis An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa. tmpxe7fu0cj_hp_relaxed.owl 'Sea blue' histiocytes|Sea-blue histiocyte MSH:D012618|SNOMEDCT_US:37821003|UMLS:C0036489 human_phenotype owl:Class CL:0000864 biolink:NamedThing tissue-resident macrophage A macrophage constitutively resident in a particular tissue under non-inflammatory conditions, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. tmpxe7fu0cj_hp_relaxed.owl resting histiocyte|fixed macrophage FMA:84644|FMA:84642 cell owl:Class HP:0001642 biolink:NamedThing Pulmonic stenosis A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis). tmpxe7fu0cj_hp_relaxed.owl Narrowing of pulmonic valve|Pulmonary stenosis|Pulmonary valve stenosis|Pulmonic valve stenosis Fyler:1611|MSH:D011666|UMLS:C1956257|SNOMEDCT_US:56786000 Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction. owl:Class HP:0012363 biolink:NamedThing Decreased sialylation of O-linked protein glycosylation An reduced addition of sialic acids to O-linked glycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022928 peter 2013-09-15T10:36:43Z human_phenotype owl:Class UBERON:0003334 biolink:NamedThing serosa of rectum A serous membrane that is part of a rectum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl serous membrane of rectum|visceral peritoneum of rectum|rectal serosa|rectum serous membrane|rectum serosa EMAPA:27087|FMA:15039 uberon owl:Class HP:0100159 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the innermost bone of the 3rd toe UMLS:C4022262 doelkens 2010-06-24T10:24:45Z human_phenotype owl:Class HP:0032547 biolink:NamedThing Low intraocular pressure An abnormal decrease of the pressure within the eye. tmpxe7fu0cj_hp_relaxed.owl Ocular hypotony 2019-06-12 10:37:45+00:00 Ocular hypotony is defined statistically as an intraocular pressure (IOP) of less than 6.5 mmHg, three standard deviations below the mean. Clinically significant hypotony is when the IOP is so low that there is resultant visual loss. Hypotony has also been described as low pressure in an individual eye, leading to functional changes and structural changes. peter owl:Class PATO:0001575 biolink:NamedThing decreased pressure A pressure which is relatively low. tmpxe7fu0cj_hp_relaxed.owl low pressure quality owl:Class HP:0410031 biolink:NamedThing Submucous cleft of soft and hard palate Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth. tmpxe7fu0cj_hp_relaxed.owl 2017-06-20 23:09:33+00:00 ORCID:0000-0001-5208-3432 owl:Class PATO:0001609 biolink:NamedThing sparse A spatial pattern inhering in a bearer by virtue of the bearer's being scattered; spread irregularly, and at a distance from each other. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0003164 biolink:NamedThing Hypothalamic gonadotropin-releasing hormone deficiency tmpxe7fu0cj_hp_relaxed.owl Hypothalamic GNRH deficiency UMLS:C4025644 human_phenotype owl:Class HP:0005294 biolink:NamedThing Arterial dissection A separation (dissection) of the layers of an artery. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:26845001|MSH:D000784|SNOMEDCT_US:233992003|SNOMEDCT_US:710864009|UMLS:C0002949|SNOMEDCT_US:9406001 human_phenotype owl:Class HP:0040190 biolink:NamedThing White scaling skin tmpxe7fu0cj_hp_relaxed.owl White scaling skin|White scaly skin UMLS:C4073146 owl:Class CHEBI:33890 biolink:NamedThing cobalt coordination entity tmpxe7fu0cj_hp_relaxed.owl cobalt coordination entities|cobalt coordination compounds|cobalt coordination entity chebi_ontology owl:Class HP:0031453 biolink:NamedThing Oral lichenoid lesion Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 15:39:38+00:00 peter owl:Class HP:0004461 biolink:NamedThing Congenital earlobe sinuses Pits in the earlobes at the location where ears are typically pierced for earrings. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969394 owl:Class CHEBI:64554 biolink:NamedThing tryptophan zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of tryptophan; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl 2-ammonio-3-(1H-indol-3-yl)propanoate|2-azaniumyl-3-(1H-indol-3-yl)propanoate 0 C11H12N2O2 InChI=1S/C11H12N2O2/c12-9(11(14)15)5-7-6-13-10-4-2-1-3-8(7)10/h1-4,6,9,13H,5,12H2,(H,14,15) QIVBCDIJIAJPQS-UHFFFAOYSA-N 204.22520 204.08988 [NH3+]C(Cc1c[nH]c2ccccc12)C([O-])=O chebi_ontology owl:Class UBERON:8410001 biolink:NamedThing small intestine venule Venule of villus of small intestine. tmpxe7fu0cj_hp_relaxed.owl venule of small intestine http://orcid.org/0000-0002-2825-0621 uberon owl:Class HP:0025217 biolink:NamedThing Triggered by high-fat diet Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids. tmpxe7fu0cj_hp_relaxed.owl High-fat diet triggered symptoms|Triggered by high-fat diet 2016-12-10 14:02:17+00:00 HPO:probinson owl:Class HP:0100681 biolink:NamedThing Esophageal duplication A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:66865009|UMLS:C0266135 Esophageal duplication is a rare cause of mediastinal mass. An esophageal duplication may be a simple epithelial cyst or duplication that contains muscle and submucosa but not epithelium. In most cases, the duplication is located in the lower thrid of the esophagus, and the most common associated symptom is difficulty in swallowing. Esophageal duplication occurs because of maldevelopment of the posterior division of embryonic foregut. doelkens 2010-12-30T02:08:38Z human_phenotype owl:Class HP:0001949 biolink:NamedThing Hypokalemic alkalosis tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:22774003|UMLS:C0085570 human_phenotype owl:Class CHEBI:30212 biolink:NamedThing photon Particle of zero charge, zero rest mass, spin quantum number 1, energy hnu and momentum hnu/c (h is the Planck constant, nu the frequency of radiation and c the speed of light), carrier of electromagnetic force. tmpxe7fu0cj_hp_relaxed.owl light quantum|Light|gamma|hnu|Lichtquant|photon|foton 0 0.0 0.0 * KEGG:C00205 CHEBI:10581|CHEBI:14383 chebi_ontology owl:Class HP:0030446 biolink:NamedThing Atypical pulmonary carcinoid tumor tmpxe7fu0cj_hp_relaxed.owl Atypical pulmonary carcinoid tumour UMLS:C4072942 owl:Class HP:0041175 biolink:NamedThing Fractured middle phalanx of pes A partial or complete breakage of the middle phalanx of pes. tmpxe7fu0cj_hp_relaxed.owl bone middle phalanx of pes owl:Class CHEBI:17855 biolink:NamedThing triglyceride Any glyceride resulting from the condensation of all three hydroxy groups of glycerol (propane-1,2,3-triol) with fatty acids. tmpxe7fu0cj_hp_relaxed.owl Triglyzerid|triglycerides|triacylglycerols|a triacylglycerol|Triacylglycerol|Triglycerid|Triglyceride 0 C6H5O6R3 173.10030 173.00861 [*]C(=O)OCC(COC([*])=O)OC([*])=O LIPID_MAPS_class:LMGL0301|PMID:2474544|KEGG:C00422 CHEBI:15255|CHEBI:27085|CHEBI:9664 chebi_ontology owl:Class CL:0002673 biolink:NamedThing tongue muscle cell A skeletal muscle cell that is part of the tongue. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-08-16T03:10:02Z cell owl:Class HP:0002601 biolink:NamedThing Paresis of extensor muscles of the big toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025696 human_phenotype owl:Class HP:0040242 biolink:NamedThing Muscle hemorrhage Bleeding occuring within a muscle tmpxe7fu0cj_hp_relaxed.owl Muscle haemorrhage SNOMEDCT_US:95422003|UMLS:C0151702 owl:Class CHEBI:48578 biolink:NamedThing radical scavenger A role played by a substance that can react readily with, and thereby eliminate, radicals. tmpxe7fu0cj_hp_relaxed.owl free-radical scavenger|free radical scavengers chebi_ontology owl:Class HP:0000348 biolink:NamedThing High forehead An abnormally increased height of the forehead. tmpxe7fu0cj_hp_relaxed.owl High forehead|Tall forehead UMLS:C0239676|UMLS:C2677762 HP:0000342 human_phenotype owl:Class GO:0006563 biolink:NamedThing L-serine metabolic process The chemical reactions and pathways involving L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. tmpxe7fu0cj_hp_relaxed.owl L-serine metabolism biological_process owl:Class HP:0030458 biolink:NamedThing Abnormal timing of pattern onset/offset visual evoked potentials tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072949 owl:Class HP:0030511 biolink:NamedThing Bradyopsia Difficulty in seeing moving objects. tmpxe7fu0cj_hp_relaxed.owl Difficulty seeing moving objects MSH:C564243|UMLS:C1842073|SNOMEDCT_US:711163009 owl:Class HP:0005956 biolink:NamedThing Anteroposteriorly shortened larynx Abnormal shortening of the larynx in the anteroposterior (front to back) axis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3805994 human_phenotype owl:Class HP:0012127 biolink:NamedThing Uraciluria Increased concentration of uracil in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine uracil levels UMLS:C4021833 hecht 2012-09-16T06:53:53Z human_phenotype owl:Class HP:0012063 biolink:NamedThing Aneurysmal bone cyst Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:203468000|MSH:D017824|UMLS:C0152244|SNOMEDCT_US:76000001 hecht 2012-08-03T02:35:52Z human_phenotype owl:Class HP:0031829 biolink:NamedThing Absent cremaster reflex Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex. tmpxe7fu0cj_hp_relaxed.owl Absent cremasteric reflex 2018-05-02 01:11:18+00:00 peter owl:Class HP:0008336 biolink:NamedThing Complex organic aciduria tmpxe7fu0cj_hp_relaxed.owl UMLS:C3151953 owl:Class HP:0008477 biolink:NamedThing Poorly ossified cervical vertebrae Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024670 human_phenotype owl:Class HP:0430028 biolink:NamedThing Hyperplasia of the maxilla Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. tmpxe7fu0cj_hp_relaxed.owl Maxillary excess|Prognathia of the upper jaw|Prominent maxilla|Maxillary prominence|Increased size of upper jaw|Increased projection of maxilla|Big upper jaw|Hyperplasia of upper jaw|Big maxilla|Increased size of maxilla|Hypertrophy of upper jaw|Increased projection of upper jaw|Upper jaw excess|Prominent upper jaw|Upper jaw bone excess|Maxillary hyperplasia|Maxillary macrognathia|Hypertrophy of maxilla|Maxillary prognathia|Large upper jaw|Large maxilla UMLS:C4280272|UMLS:C2227090|SNOMEDCT_US:28070007|UMLS:C4280273|UMLS:C4073209|UMLS:C0266081 owl:Class HP:0002669 biolink:NamedThing Osteosarcoma A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor. tmpxe7fu0cj_hp_relaxed.owl Bone cell cancer|Osteogenic sarcoma SNOMEDCT_US:21708004|UMLS:C0029463|NCIT:C9145|SNOMEDCT_US:307576001|MSH:D012516 human_phenotype owl:Class GO:0014049 biolink:NamedThing positive regulation of glutamate secretion Any process that activates or increases the frequency, rate or extent of the controlled release of glutamate. tmpxe7fu0cj_hp_relaxed.owl stimulation of glutamate secretion|upregulation of glutamate secretion|up-regulation of glutamate secretion|activation of glutamate secretion|up regulation of glutamate secretion biological_process owl:Class HP:0031620 biolink:NamedThing Anterior chamber flare grade 3+ Marked anterior chamber flare (iris and lens details hazy). tmpxe7fu0cj_hp_relaxed.owl 2017-12-16 13:31:07+00:00 peter owl:Class HP:0031204 biolink:NamedThing Bacterial cell casts A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection. tmpxe7fu0cj_hp_relaxed.owl 2017-06-27 11:12:00+00:00 peter owl:Class GO:0048369 biolink:NamedThing lateral mesoderm morphogenesis The process in which the anatomical structures of the lateral mesoderm are generated and organized. tmpxe7fu0cj_hp_relaxed.owl lateral plate mesoderm morphogenesis biological_process owl:Class HP:0430029 biolink:NamedThing Hyperplasia of the premaxilla An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures. tmpxe7fu0cj_hp_relaxed.owl Increased size of premaxilla|Premaxillary excess|Large premaxilla|Hyperplasia of the primary palate bone|Large primary palate bone|Hyperplasia of the intermaxillary bone|Primary palate bone excess|Increased size of the primary palate bone UMLS:C4073210 owl:Class N8f1d74081b0d4f38b29378332666f4ae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N06b5e4d2abd14fdb815317fbd9965378 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000042 biolink:NamedThing Absent external genitalia Lack of external genitalia in a male or female individual. tmpxe7fu0cj_hp_relaxed.owl Absent external genitalia UMLS:C1848869 human_phenotype owl:Class N8299e4873a854b97ba6ac970b89ac993 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc529326df6ae4f029375cf68678f8e05 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd2180c22a4ba4273bb5b22d2cd5015dc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Necd5bdb3426f4b9fa5255d8d8e03b361 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8a22c5706e764baa8e446456c4009110 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0fadd6879d1f4ca3a4e937c4fb3c48cc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6ff7f875259d490c8e7ec1db20e61fae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500246 biolink:NamedThing Increased CSF citrulline concentration Abnormally increased levels of citrulline in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High citrulline levels in cerebrospinal fluid 2019-02-26 15:49:01+00:00 owl:Class Nea47ac89edb04f429c80e701f90b1b8d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3f1ffd5bb32a48169a5fdc0d91f96afe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N113ec0d773aa4e90a464f81f023550c1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N297bbb4ae6da44708bc3156cac59591a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9a5e7ab78df44230b5fcdacfd20e63d5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0a41c049a68a4e80b079185b42d9c8b4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0016057 biolink:NamedThing regulation of membrane potential in photoreceptor cell Hyperpolarization (vertebrates) or depolarization (invertebrates) of the photoreceptor cell membrane via closing/opening of cation specific channels as a result of signals generated by rhodopsin activation by a photon. tmpxe7fu0cj_hp_relaxed.owl changes in polarization state of photoreceptor cell membrane biological_process owl:Class HP:0008817 biolink:NamedThing Aplastic pubic bones tmpxe7fu0cj_hp_relaxed.owl Absent pubic bones UMLS:C1848660 human_phenotype owl:Class N6237cd4a7a9b4003b4fbc8f02104c60e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfbdfbb8b70f64ce49143cdc1b011270f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd3fee228a765446a9c372f55dc850dfb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003301 biolink:NamedThing physiological cardiac muscle hypertrophy The enlargement or overgrowth of all or part of the heart muscle due to an increase in size of cardiac muscle cells without cell division. This process contributes to the developmental growth of the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-22T10:38:10Z biological_process owl:Class N6302e11645164c39aae0752653cba960 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N993b6801d06d40a8a1b5a7342d881263 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb5b4f9fd5cb548cf85d3413abaac1014 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N27f16da89dcb4663b44d96271f0ca561 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nab5817ee924c46c581cd4e127323883b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfbd92b6603d14c73883b81ddb2a70a2d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002677 biolink:NamedThing Small foramen magnum An abnormal narrowing of the foramen magnum. tmpxe7fu0cj_hp_relaxed.owl Little foramen magnum|Stenosis of foramen magnum|Narrow foramen magnum|Foramen magnum stenosis|Hypoplasia of foramen magnum UMLS:C1535953|UMLS:C1861217|UMLS:C4072838|SNOMEDCT_US:444879009 The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. Stenosis of the foramen magnum can represent a risk for compression to the spinal cord. HP:0005468 owl:Class Ncae88568e63f49aeac1200016a0df281 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011382 biolink:NamedThing Hypoplasia of the semicircular canal Underdevelopment of the semicircular canal. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of the semicircular canals|Small semicircular canal UMLS:C3552156 peter 2012-03-09T07:15:47Z human_phenotype owl:Class N786e90e6cf334496a4c6ed36a1f2c018 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N46c980998a8148758c19cec2c3abec5f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N74e54b6de4d3405cb43a8134be7c0134 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1901338 biolink:NamedThing catecholamine binding Binding to catecholamine. tmpxe7fu0cj_hp_relaxed.owl bf 2012-09-03T14:08:44Z molecular_function owl:Class N999e5ba4e2de4ead9ded15f41e4288ae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001183 biolink:NamedThing inferior mesenteric artery Mesenteric artery that supplies the large intestine from the left colic (or splenic) flexure to the upper part of the rectum, which includes the descending colon, the sigmoid colon, and part of the rectum. Proximally, its territory of distribution overlaps (forms a watershed) with the middle colic artery, and therefore the superior mesenteric artery. The SMA and IMA anastomose via the marginal artery (artery of Drummond). The territory of distribution of the IMA is more or less equivalent to the embryonic hindgut. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl inferior mesenteric arterial tree|arteria mesenterica inferior|IMA VHOG:0001116|GAID:501|UMLS:C0162860|NCIT:C32780|EHDAA:4345|galen:InferiorMesentericArtery|EMAPA:18618|FMA:14750|EHDAA2:0000817|MA:0002004|OpenCyc:Mx4rv-t-S5wpEbGdrcN5Y29ycA|MESH:D017537|BTO:0002302 http://upload.wikimedia.org/wikipedia/commons/e/e4/Gray538.png uberon owl:Class N3bf1a3e5d0c045c499e399ca58643f41 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410156 biolink:NamedThing Increased level of N-acetylneuraminic acid in urine An increase in the level of N-acetylneuraminic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased level of NANA in urine|Increased level of Neu5Ac in urine 2018-03-28 00:27:38+00:00 owl:Class Nddc5f4b0c06e445aa1cb49287b7332d9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012128 biolink:NamedThing Basal ganglia necrosis Death of cells in the basal ganglia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023035 hecht 2012-09-16T07:00:22Z human_phenotype owl:Class N05467dc01b71407bb2db74c4694a0823 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2b396749817a4dbfbad87a3b385ca387 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3b73e0e9e67141bc825de952bf1098ef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:27300 biolink:NamedThing vitamin D Any member of a group of fat-soluble hydroxy seco-steroids that exhibit biological activity against vitamin D deficiency. Vitamin D can be obtained from sun exposure, food and supplements and is biologically inactive and converted into the biologically active calcitriol via double hydroxylation in the body. tmpxe7fu0cj_hp_relaxed.owl vitamins D|D vitamins|vitamin D vitamer|vitamin D vitamers|vitamin Ds MetaCyc:Vitamin-D|Wikipedia:Vitamin_D chebi_ontology owl:Class N03807ff652bd494db41170e57b0f4b76 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6a360dfd0ad44303930c3c0f542159c9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndab3b588eb174f2cbe62190cfdb9560d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfe9cebc309494ecc82a8e2cfa3343180 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc04a5ab85d584d86a27f2dfdc6675753 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009610 biolink:NamedThing forebrain neural plate A neural plate that develops_from a future forebrain. tmpxe7fu0cj_hp_relaxed.owl TAO:0007018|ZFA:0007018 uberon owl:Class N8a73e294d6804b3381feea3e5a55b976 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000417 biolink:NamedThing Slender nose tmpxe7fu0cj_hp_relaxed.owl Slender nose UMLS:C1857645 human_phenotype owl:Class Nf6f3ca938aaf4776a817a175ea56fe24 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N94d497b39d21458a82d7eef403944946 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na9172a98a7194c85bb34903dd649bf8b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009740 biolink:NamedThing Aplasia of the parotid gland Absence of the parotid gland. tmpxe7fu0cj_hp_relaxed.owl Abnormally small parotid gland|Underdevelopment of parotid gland|Hypoplasia of parotid gland|Absence of the parotid gland UMLS:C1400252|UMLS:C4020779|UMLS:C4024215 peter 2009-01-31T12:51:47Z human_phenotype owl:Class Neba656f90f684ac1a3e40acb90a12fe7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003097 biolink:NamedThing Short femur An abnormal shortening of the femur. tmpxe7fu0cj_hp_relaxed.owl Femoral hypoplasia|Short femurs|Short thighbone|Hypoplasia of the femora UMLS:C0345375|SNOMEDCT_US:93255008 HP:0009749 human_phenotype owl:Class N750b0e2cad2c4b979df76c364d7b6c6a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N69faa02b1fd14da0847de6af1c28df80 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N92f598a14d924634be798df3f0838b0c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011415 biolink:NamedThing Calcified placenta tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:249174002|UMLS:C0426234 peter 2012-03-15T10:10:35Z human_phenotype owl:Class N978665173d4141b394c59ba0ccb9481c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4ed5ab472c3e4632b6aa80e86cee69d4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100253 biolink:NamedThing Abnormality of the medullary cavity of the long bones An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the marrow cavity of the long bones UMLS:C4021027 doelkens 2010-07-14T05:09:21Z human_phenotype owl:Class N7dd82e87d24f415abe897f9d1682639e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:38147 biolink:NamedThing cardiotonic drug A drug that has a strengthening effect on the heart or that can increase cardiac output. tmpxe7fu0cj_hp_relaxed.owl cardiotonic drugs chebi_ontology owl:Class HP:0002225 biolink:NamedThing Sparse pubic hair Reduced number or density of pubic hair. tmpxe7fu0cj_hp_relaxed.owl Sparse pubic hair|sparse to absent pubic hair|Decreased sexual hair UMLS:C1858573 HP:0004778 human_phenotype owl:Class N45dda3a1ccd947f9b75bbd9e2d7ede31 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006829 biolink:NamedThing Severe muscular hypotonia A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. tmpxe7fu0cj_hp_relaxed.owl Severely decreased muscle tone|Hypotonia, severe UMLS:C1839630 HP:0002347 human_phenotype owl:Class Nac75f662b4a7451e96ffdf2e1b297a3f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb3b4d8134b7c4ac2ae871de2e56885fe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5304131af0dc41ac9a7336c9dc95679c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004110 biolink:NamedThing midnasal cavity An anatomical cavity that is the combination of the cavity between the nares and the choanae[HP,modified]. tmpxe7fu0cj_hp_relaxed.owl FMA:59675 uberon owl:Class N01cf8b95075248d5a7879f50d62cd99a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000347 biolink:NamedThing entire myelin sheath The insulating envelope that surrounds nerve fibers or axons. tmpxe7fu0cj_hp_relaxed.owl medullary sheath CALOHA:TS-2363|BTO:0000900|NCIT:C13261|MESH:D009186|FMA:62983|GAID:731|GO:0043209|UMLS:C0026973 do not cede to GO until GO includes has_part link to myelin uberon owl:Class N1db397f2de3e4b0e91b2ea24466f5e1e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb68061ba61b643729577412aa260d9d4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N42e5aec03e9d4ba8a57cf76efbce421d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007048 biolink:NamedThing Large basal ganglia Increased size of the basal ganglia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859470 human_phenotype owl:Class N9a0437eaddc84100b5988ad6c36534c7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7c8edb3f175e41b3a72c9852f923099c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3f69424d2c204625b06548e078bc38a4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne2074a96a0b64c6abc0b02470cb9ebc2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndbc2785b8c2b48328b56821fab086fb7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2dc567f8e39341fbbb265dc24e42ea8c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndd9c04ab4d7143c383213a56b4c7d40b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035546 biolink:NamedThing uveal vein tmpxe7fu0cj_hp_relaxed.owl ciliary vein FMA:51797|SCTID:149683007 uberon owl:Class N9d44f9b3bede47c6a69f760fad993d9a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N290c106c4ea847339ddd5a708024f290 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004274 biolink:NamedThing lateral ventricle choroid plexus epithelium A choroid plexus epithelium that is part of a lateral ventricle [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl epithelium of chorioid plexus of cerebral hemisphere of lateral ventricle|lateral ventricle epithelial tissue of chorioid plexus of cerebral hemisphere|choroid plexus epithelium of lateral ventricle|lateral ventricle epithelium of chorioid plexus of cerebral hemisphere|epithelial tissue of chorioid plexus of cerebral hemisphere of lateral ventricle|choroid plexus epithelial tissue of lateral ventricle|lateral ventricle epithelium of choroid plexus|lateral ventricle epithelial tissue of choroid plexus|chorioid plexus of cerebral hemisphere epithelium of lateral ventricle|chorioid plexus of cerebral hemisphere epithelial tissue of lateral ventricle|lateral ventricle choroid plexus epithelial tissue|epithelium of choroid plexus of lateral ventricle|lateral ventricle chorioid plexus of cerebral hemisphere epithelial tissue|lateral ventricle chorioid plexus of cerebral hemisphere epithelium|epithelial tissue of choroid plexus of lateral ventricle NCIT:C49248|EHDAA2:0004450|UMLS:C1711323|MA:0000962|FMA:242815 uberon owl:Class N44e70e10ebfe495e8baef398a5b6b410 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1d8cb36c1c984d23a7982886d46be4cf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N42de2d17b9fe40bea7d6df61cf758efc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N020e4b9163bf4c16b58e0402461f87e5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N47708e5e6a494bf0841d2b127fd1e9a4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N679ccd466dbe4b2385cb67da06db3db3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0014075 biolink:NamedThing response to amine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amine stimulus. An amine is a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups. tmpxe7fu0cj_hp_relaxed.owl response to amine stimulus biological_process owl:Class N07dba45fcbba45fcbd0b3deb50fbdefa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000337 biolink:NamedThing Broad forehead Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. tmpxe7fu0cj_hp_relaxed.owl Intertemporal widening|Wide forehead|Broad forehead|Increased bitemporal width|Increased bitemporal dimension|Increased width of the forehead|Bitemporal widening UMLS:C1849089 Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead. HP:0000354|HP:0000352 human_phenotype owl:Class Nb3242c9ae41346a18c979d22c0fbc767 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3fb713e49eb84abdadb7595e1cca5f71 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:76929 biolink:NamedThing 2,3-saturated fatty acid Any fatty acid in which the first two carbons of the chain attached to the carboxy group are saturated and unbranched. tmpxe7fu0cj_hp_relaxed.owl 0 C3H5O2R 73.071 73.02895 OC(=O)CC[*] chebi_ontology owl:Class N05906c75c8514b33a3e3d85bae0002d7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb8462687027b44bea3984ee2f5962ab9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N97a0aaf16d3a44d28be184970d187bd8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3e6816faa0f5482c81f07b1d9864a064 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8326e009887340ef95afe45647e9d953 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd1431002bbd14f1a83d9afa5988bcbe6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N994d74bf3b0a4bf99a0e9a1defa953b8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0022009 biolink:NamedThing central nervous system vasculogenesis The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes in the central nervous system. The capillary endothelial cells in the brain are specialized to form the blood-brain barrier. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/21480 biological_process owl:Class N804116b74f5745fdaa0b9aa9e49d4bdc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N830021e49b8143a29aaa1e6fbfd1ab7d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naba0b4b7fc4141259f546c672cb1da64 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd630048b43d54dfc87475314375a9d68 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1b640bb74da344c3aee5e7528c673eb9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0031052 biolink:NamedThing chromosome breakage Regulated cleavage of the developing macronuclear genome at a limited number of chromosome breakage sites (CBS). The macronuclear destined segment (MDS) sequence adjacent to the CBS (or separated from it by a BES) receives a macronuclear telomere following chromosome breakage. tmpxe7fu0cj_hp_relaxed.owl establishment or maintenance of heterochromatin architecture Note that this term refers to breakage of chromosomes during normal DNA rearrangements characteristic of ciliates; it is not to be used for DNA damage or other abnormal occurrences. biological_process owl:Class Nb3a1735e03a84ea89b14efa256dcbb8c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncb10776e5fce4f2d9f71de94a6985540 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015110 biolink:NamedThing distal tarsal bone 3 pre-cartilage condensation A distal tarsal bone 3 endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class Nc599bf7673a54af89710c19f430be9e4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbf7a7daafc164c79969db860527674ab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010558 biolink:NamedThing Abnormality of the clivus An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023791 peter 2009-10-14T09:37:19Z human_phenotype owl:Class N28e5a26036c24a1fab08ef7e2328abc0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6167b22655ac4f048babd9dfe39a7b15 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1f3e217032d8452e93f876722622ba29 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001896 biolink:NamedThing Reticulocytopenia A reduced number of reticulocytes in the peripheral blood. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:124961001|UMLS:C0858867 human_phenotype owl:Class Neaf7faf00bfd43389a62be3c29c9bf6b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N58d817ade5a242ef82051609886a266e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N581c19b87db1403c8c09ee063b6e5f51 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2c34a91f0f1b43ed89a600844a71280d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nabe160648df145b09acc7f522ab808d1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N839112a7dd09409880b957702b0665e6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N32c9d0b1e1b94e21907f713cba8f9074 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001959 biolink:NamedThing Polydipsia Excessive thirst manifested by excessive fluid intake. tmpxe7fu0cj_hp_relaxed.owl Extreme thirst SNOMEDCT_US:17173007|MSH:D059606|SNOMEDCT_US:267026004|UMLS:C0085602 human_phenotype owl:Class N8d8eb937ee4e44329a7189641dd1c5d7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2a9435f31f8b46d6bd776deb2ab9089f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100222 biolink:NamedThing Stippling of the epiphysis of the middle phalanx of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of the innermost bone of the pinkie toe|Speckled calcifications in middle part of the innermost bone of the little toe|Speckled calcifications in middle part of the innermost bone of the pinky toe UMLS:C4022199 doelkens 2010-06-24T05:04:00Z human_phenotype owl:Class Na441096cfb9644b882b8851375d6adda biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003334 biolink:NamedThing Elevated circulating catecholamine level An abnormal increase in catecholamine concentration in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025629 Elevated circulating catecholamine level is a common feature in patients with pheochromocytoma. human_phenotype owl:Class N89d8ba3233574dfeb9ee24a3852361e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007011 biolink:NamedThing Fourth cranial nerve palsy Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly. tmpxe7fu0cj_hp_relaxed.owl Trochlear nerve palsy SNOMEDCT_US:20610004|MSH:D020432|UMLS:C0271375 The fourth cranial nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. human_phenotype owl:Class Nc608f8981a6a4a50a2939fcde8f6801e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb872242c7d894bbbaf2a9703e8e7a31a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbd2c137425074874a8924692775e6c2e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0025457 biolink:NamedThing Decreased CSF protein CSF total protein level is below the lower limit of normal. tmpxe7fu0cj_hp_relaxed.owl Low CSF total protein|Hypoproteinorrhachia|Decreased cerebrospinal fluid total protein 2017-05-05 10:34:12+00:00 HPO:probinson owl:Class N3a5440cc3e984c6982b49b3de08ed54a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0d312719acee474c84e0944b8ef2858a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N122e9d6a5ec3410f8e31802deb332b48 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3620b87d24bc46e085a8183da716756e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N52216a674c1348828cacdf9af4164a54 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naa8d16a99dd841c98e6e7e7c86624f1e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0944a6a862f245fcaaa3636b85b5f7ca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N18e026d039f94583a49c62f8768524b5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0007011 biolink:NamedThing enteric neuron Neuron that is part of the enteric nervous system. tmpxe7fu0cj_hp_relaxed.owl haendel 2012-06-28T08:20:31Z cell owl:Class Nfa518c4ca1df43fd8793573995d0f4b5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N26301a24a79b4e739635223a7c8c9291 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N97bd5cf4855849b485cfac54030614f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HGNC:4164 biolink:NamedThing GAST (human) A protein coding gene GAST in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class UBERON:0005064 biolink:NamedThing left ventricular trabecular myocardium tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class N2683902d176847d3a35fb8741fe32d49 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf1ab1b6533fc499caba6abf1983859ec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na1c9b0befd7e4791b03dbfe83ef44d1a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5813a475ce324ed6ac40e21bb4609138 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N03b684ce6109403d8ebb97439604ee99 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc69595da36cf43d7af0fa519bb3a8967 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N503a1dda32de4ea5832b5edae73afef7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N37687ea9ff7e4013a0b1f3285b1d11e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb3ee1fc952104b2d8022c51269478639 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9ef77e6cede343d4a0ffc8bcda914af1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N07af27a4e9bf4123a5b4c10853cfc97e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N45b8185e6aa648ce8604a7b8b4a68e56 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N99b56c0dcb7c442795632f3947f7b11b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001379 biolink:NamedThing vastus lateralis The Vastus lateralis (Vastus externus) is the largest part of the Quadriceps femoris. It arises by a broad aponeurosis, which is attached to the upper part of the intertrochanteric line, to the anterior and inferior borders of the greater trochanter, to the lateral lip of the gluteal tuberosity, and to the upper half of the lateral lip of the linea aspera; this aponeurosis covers the upper three-fourths of the muscle, and from its deep surface many fibers take origin. A few additional fibers arise from the tendon of the Glutæus maximus, and from the lateral intermuscular septum between the Vastus lateralis and short head of the Biceps femoris. The fibers form a large fleshy mass, which is attached to a strong aponeurosis, placed on the deep surface of the lower part of the muscle: this aponeurosis becomes contracted and thickened into a flat tendon inserted into the lateral border of the patella, blending with the Quadriceps femoris tendon, and giving an expansion to the capsule of the knee-joint. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl vastus externus|lateralis|vastus lateralis muscle EFO:0001937|FMA:22431|galen:VastusLateralis|BTO:0001563|NCIT:C53073|EMAPA:36244|UMLS:C0224444|MA:0002402 http://upload.wikimedia.org/wikipedia/commons/5/57/Illu_lower_extremity_muscles.jpg uberon owl:Class Ne037501dae944f098156160cece3f57d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500244 biolink:NamedThing Increased CSF ornithine concentration Abnormally increased levels of ornithine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High ornithine levels in cerebrospinal fluid 2019-02-26 15:36:36+00:00 owl:Class N59da617948764222b98bcf988687ae2c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:32564 biolink:NamedThing lysinium(1+) An alpha-amino-acid cation that is the conjugate acid of lysine, having two cationic amino groups and an anionic carboxy group. tmpxe7fu0cj_hp_relaxed.owl lysinium(1+)|lysine monocation|2,6-diammoniohexanoate|lysinium +1 C6H15N2O2 InChI=1S/C6H14N2O2/c7-4-2-1-3-5(8)6(9)10/h5H,1-4,7-8H2,(H,9,10)/p+1 KDXKERNSBIXSRK-UHFFFAOYSA-O 147.19558 147.11280 [NH3+]CCCCC([NH3+])C([O-])=O chebi_ontology owl:Class UBERON:0002047 biolink:NamedThing pontine raphe nucleus The pontine raphe nucleus is one of the raphe nuclei. It is located in the pontine tegmentum. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl raphe (mediana pontina)|raphe pontis|nucleus raphes pontis|raphe of pons|nucleus raphe pontis|raphe pontis nucleus BIRNLEX:1110|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=589|MBA:238|FMA:68875|DHBA:12475|BAMS:RA-PONS|Wikipedia:Pontine_raphe_nucleus|UMLS:C0175423|BAMS:PnR|BAMS:RPn|HBA:9159|MA:0001022|DHBA:12471 uberon owl:Class Nf0083bd1a7fd48bda855528f99b8925d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7a3ccb287b954217be276475543bfd54 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2c7a846d74654524abe16fe0270d77ea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbc750b9a4feb4b989cd562493a78af26 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013280 biolink:NamedThing diaphysis of tibia A diaphysis that is part of a tibia. tmpxe7fu0cj_hp_relaxed.owl body of tibia|body of the tibia|corpus tibiae|tibial diaphysis|shaft of tibia EMAPA:37770|MA:0003049|FMA:33125 uberon owl:Class The body of the tibia has three borders and three surfaces[Wikipedia:Body_of_tibia]. Nfbb153591c4241a7bf58b82484f1d604 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005990 biolink:NamedThing aortic valve cusp The three fibrous triangular components and associated flap of the aortic valve. tmpxe7fu0cj_hp_relaxed.owl semilunar valvule of aortic valve|aortic valvular cusp|cusp of aortic valve|aortic semilunar valvule FMA:7251 uberon owl:Class N5ca3b9114ca5453982dc476d846cc73d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne3e2f8e3e96d4850b520283de0e34f4a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7290418fda424ab4b4ce630730aec803 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndfc3987d6f354d1cbc659107f2f5e937 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb4e7541e35b94949a7cc84ae0ff06d3b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014776 biolink:NamedThing midbrain neuromere A neuromere that is part of the presumptive midbrain. tmpxe7fu0cj_hp_relaxed.owl future mesencephalon|mesomere|mesomere of nervous system|mesomere group|midbrain segment|segment of midbrain|neuromere of mesomere group EHDAA2:0004352|FMA:61997 uberon owl:Class N6484dfd5b58d4a2a8b3bc1643d5055b2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010306 biolink:NamedThing Short thorax Reduced inferior to superior extent of the thorax. tmpxe7fu0cj_hp_relaxed.owl Shorter than typical length between neck and abdomen SNOMEDCT_US:249670005|UMLS:C0426789 peter 2009-07-12T02:13:42Z human_phenotype owl:Class Nc79d7bbfdf9f48c29c38995be8f48b46 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neae19b41093a4cef9bf21479fa630ff9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N69fd4dc490594da8b737b6830d7ad2c0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndab75cbcbdde4d0d82713d12e00cdf8a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3d7b3d69e13c400f8a54788f4695359b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N174fa9c8910541eabf936731607681df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nec65d2043113427a957f91f370a2e8db biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N838df68aaca1453aad2c3a4b4021c167 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N091f1c008fa14c18a7f6e3312ae196a3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008751 biolink:NamedThing Laryngeal cleft Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus. tmpxe7fu0cj_hp_relaxed.owl Laryngotracheoesophageal cleft i|Laryngotracheal cleft MSH:C537875|SNOMEDCT_US:232461002|UMLS:C1840311 Embryologically, the trachea and esophagus share a common lumen until they are separated by the development of the tracheoesophageal septum. Failure of this fusion and incomplete development of the tracheoesophageal septum may lead to congenital abnormalities such as isolatedlaryngeal cleft, tracheoesophageal fistula, and esophageal atresia, depending on the severity of the abnormality. Patients with laryngeal cleft may present with feeding difficulty, chronic cough, stridor, pneumonia or respiratory distress, depending on the size of the cleft. human_phenotype owl:Class N121f00da3be94e14b497472d88bded75 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003085 biolink:NamedThing Long fibula Disproportionately long fibulae. tmpxe7fu0cj_hp_relaxed.owl Long calf bone|Long fibula|Disproportionately long fibula UMLS:C1848109 human_phenotype owl:Class Nea09cb44aeaf473892fb50972388d40e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6fceb739dfa74c84b90ae56de85ee1ff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N47b8073dd3294540ae05d637fb196a86 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N07df7afd41114dd59a9c1016ea9fa84f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012506 biolink:NamedThing Small pituitary gland An abnormally decreased size of the pituitary gland. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022873 peter 2013-11-30T09:37:34Z human_phenotype owl:Class Neab5d5f02f5a49d6b2ea813510cc5ec2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N692db330d78f40e6992e647415f94eec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na3b3c8fea858466d8558768ad829d3cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc0b7d5d7d61441cf8f84ff9a8210f8ff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N38f668e68e2f4383aa8a62730e7e55ab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007489 biolink:NamedThing Diffuse telangiectasia Telangiectases (small dilated blood vessels) with a diffuse localization. tmpxe7fu0cj_hp_relaxed.owl Telangiectases, random body distribution|Diffuse telangiectases SNOMEDCT_US:125279001|UMLS:C1265776 HP:0007405 human_phenotype owl:Class N3f2cd719dfe74838bc39e6f3367f601d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N945080408fb144d2a4ea5f5e20ad4cca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N893db9b57eba475bac01ed9fd86e804c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N38a6dbe0e14d4f50aa294ceddce0c13e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na5efaff5178b4806b1b2088e148fa102 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011966 biolink:NamedThing Elevated plasma citrulline An increased concentration of citrulline in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023102 peter 2012-07-18T08:23:22Z human_phenotype owl:Class N469ec8312d0c41aba663465a2da8193f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N520793ba1e3a480d8748e2da22ebc2f0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005092 biolink:NamedThing right horn of sinus venosus tmpxe7fu0cj_hp_relaxed.owl sinus venosus right horn EMAPA:16239|FMA:70318|EHDAA:484|VHOG:0000489|EHDAA2:0001841 uberon owl:Class Three major adaptations, or 'novel cardiac components', that were not present in the ancestor chordate heart tube can be distinguished in the lower vertebrate heart: the atrium, ventricle, and possibly the muscular sinus venosus.[uncertain][VHOG] N6375ae25a03040bcb754049876143e88 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0005026 biolink:NamedThing hepatoblast Multi fate stem cell that gives rise to both hepatocytes and cholangiocytes as descendants. tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:1902913 biolink:NamedThing positive regulation of neuroepithelial cell differentiation Any process that activates or increases the frequency, rate or extent of neuroepithelial cell differentiation. tmpxe7fu0cj_hp_relaxed.owl activation of neuroepithelial cell differentiation|up regulation of neuroepithelial cell differentiation|upregulation of neuroepithelial cell differentiation|up-regulation of neuroepithelial cell differentiation mr 2014-04-18T21:06:42Z biological_process owl:Class Nb2b1e8ffa22046598c4a6ede6497e250 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndaf97d4d003644d0ae10be025bdd8be2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005066 biolink:NamedThing right ventricular trabecular myocardium tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class Nd2206543db7846bfaca8fa2c75e0353c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000325 biolink:NamedThing gastric gland The branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin. tmpxe7fu0cj_hp_relaxed.owl BTO:0000503|FMA:14919|EMAPA:27181 uberon owl:Class N1bd5c33cde4a449ca8d175d0919f0ad8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0006591 biolink:NamedThing ornithine metabolic process The chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis. tmpxe7fu0cj_hp_relaxed.owl ornithine metabolism biological_process owl:Class GO:0001878 biolink:NamedThing response to yeast Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a yeast species. tmpxe7fu0cj_hp_relaxed.owl defined as response to Saccharomycotina (true yeasts). This excludes fission yeast. biological_process owl:Class Nb981faab49904f9abdc4463782a23556 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne5008266b9b741acad114122b4a903d9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nee3a9933490f435db6d7ae937b8e7702 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7ca01794427c40e48819b63d1c75bce8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N759abfa1c3e7460296ca728cf624c2d1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0034435 biolink:NamedThing cholesterol esterification A lipid modification process in which a sterol ester is formed by the combination of a carboxylic acid (often a fatty acid) and cholesterol. In the blood this process is associated with the conversion of free cholesterol into cholesteryl ester, which is then sequestered into the core of a lipoprotein particle. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N7034be96d3f04a75870441122b72cd67 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4af4a2b8671948ae914bc23ad3d6ed97 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9eb674644f1a4de9afc7fef58901944e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N62b47a697dc64f37b07c4a7bb19800fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf761af08a97b445e9e310a92747b3a89 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf6c743a8c42f4e9ba6d7ae6df87902c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004491 biolink:NamedThing Large posterior fontanelle An enlargement of the posterior fontanelle relative to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Large posterior fontanel UMLS:C1855233 human_phenotype owl:Class N8480d1def23046598d8b9b3670552fe0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc8b2637251cb40fbb3df7ea6bbdd02f7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7c797b4a23814cca9bd16265fc49926c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8691f96d146f47fbaa6afacd0efd640a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne1c0b1f4532842f9b7369edd426ffc7b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100839 biolink:NamedThing Hepatic agenesis Absence of the liver owing to a failure of the liver to develop. tmpxe7fu0cj_hp_relaxed.owl Failed liver development|Liver agenesis SNOMEDCT_US:3650004|UMLS:C0266258 doelkens 2011-06-09T06:37:25Z owl:Class N57e1af12eccc47b988745d94590e9b9e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010220 biolink:NamedThing arytenoid pre-cartilage condensation tmpxe7fu0cj_hp_relaxed.owl arytenoid swelling pre-cartilage condensation VHOG:0000998|EHDAA2:0000144|EMAPA:17387 uberon owl:Class HP:0003924 biolink:NamedThing Stippled calcification of humeral metaphysis tmpxe7fu0cj_hp_relaxed.owl Speckled calcification in metaphysis of long bone of upper arm UMLS:C4025503 human_phenotype owl:Class N25e0589c2d3048008389bd46054ce47d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3bc2fde0ffa04dcdbb3ab9032d2c3a4d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2decd5be51d247539b318b17abe9f824 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N034f2082dc784a60b9417346e7145d5a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8dad67fcad4449199bf69f983eb750c1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7132947918104fda80b3b54df015de17 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7cc709ba228e4a92a9eb9c5217191818 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5d9c6ba18b574bd4bb23ae64924e0dee biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na31d59a07cd047148399dd2bb9c660a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N222352b6a9bf4cd49d0185b562bbb2b1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012421 biolink:NamedThing Congenital absence of foreskin Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis. tmpxe7fu0cj_hp_relaxed.owl Absent foreskin|Aposthia SNOMEDCT_US:300519001|UMLS:C0577242 Absence of the foreskin can be accompanied by Cryptorchidism and Hypospadias, which should be coded separately. peter 2013-11-10T06:17:21Z human_phenotype owl:Class Nead02f6cf4f94606a1299e3aa58461fa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N18bd07df54b6426c8745c7b9e09d67cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd3274aeb987f4ade83c1326bb71f1524 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2a6bcf3acb2f4985b40c52128adeb094 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nef4bedfc375a43a490a800def86faef6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500134 biolink:NamedThing Hypertryptophanemia An increased amount of tryptophan in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased tryptophan in blood|High blood tryptophan concentration 2018-10-01 15:09:12+00:00 owl:Class N7031a347eb374ee8baeba863e4790832 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N05ef5057beaf4b11af1a3ef276dfaaf2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0f380975cc7c44e0b782b0567fb12ddf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N12632566d8014592ad507b269a9df08a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd3b28d07f838406280e0946f0491c7b7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N28931313e83b47f89a6211943d46070d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N24a1b63245324ef5a37d93037260711f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N54e60ff76a1541709919f60081cde888 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100192 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the innermost bone of 4th toe UMLS:C4022229 doelkens 2010-06-24T04:54:59Z human_phenotype owl:Class N287db919f1fc480ca0a3f1f39c3fd1bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0090685 biolink:NamedThing RNA localization to nucleus A macromolecular localization process in which RNA is transported to and maintained in a location within the nucleus. tmpxe7fu0cj_hp_relaxed.owl RNA localisation to nucleus tb 2016-07-19T17:00:49Z biological_process owl:Class N75612873d4a44b25aeab3b8b57299715 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N868644429de1466face170411d8551dd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7fd4f593ff304e4e8376679fbfd0ac6a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0a25c8d25a2f4333a804e3268c566572 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N200e5b8b6d7d4d6bb3ba8bd48941320d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N56c875d919594a9c93876fc644ed8d7d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9f7771a26e9a4af78dbb620ac7700fc8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na62ae922fb074a87950e7542579f0e4d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012416 biolink:NamedThing Hypercapnia Abnormally elevated blood carbon dioxide (CO2) level. tmpxe7fu0cj_hp_relaxed.owl Hypercarbia|High blood carbon dioxide level MSH:D006935|SNOMEDCT_US:29596007|UMLS:C0020440 peter 2013-11-10T05:04:49Z human_phenotype owl:Class Nd571048b7b054cc4849ab8b8804c4ac5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NBO:0000355 biolink:NamedThing posture tmpxe7fu0cj_hp_relaxed.owl owl:Class Nd1fdef35d28b45768a8870f7959e79de biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0a1d54011257490e84de9ea14ec994a3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0031305 biolink:NamedThing Tibial arterial calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery. tmpxe7fu0cj_hp_relaxed.owl 2017-08-26 21:05:24+00:00 peter owl:Class N88907459c3b8439b964444101813c201 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006106 biolink:NamedThing Absent trapezoid bone tmpxe7fu0cj_hp_relaxed.owl UMLS:C1847191 human_phenotype owl:Class N6cff892a017149e7af94c8243f2c76a3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nad28e1564abb4a74b3213ae996b1ee39 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0025441 biolink:NamedThing Achilles tendon calcification Ectopic deposition of calcium salts in the Achilles tendon. tmpxe7fu0cj_hp_relaxed.owl Calcification of the Achilles tendon 2017-04-24 00:51:04+00:00 HPO:probinson owl:Class Nff1bebc9901549d7ae8109dc6a9a4f6d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N47d556a47b664b15ba8863aa9ddc4e26 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006322 biolink:NamedThing inferior rectus extraocular muscle A muscle in the orbit that depresses, adducts, and helps extort (rotate laterally) the eye. The inferior rectus muscle is the only muscle that is capable of depressing the pupil when it is in a fully abducted position. tmpxe7fu0cj_hp_relaxed.owl ventral rectus|ventral rectus extraocular muscle|inferior rectus muscle|inferior rectus|musculus rectus inferior|m. rectus inferior|ventral recti|musculus rectus inferior bulbi ZFA:0000457|AAO:0010101|FMA:49036|NCIT:C32790|TAO:0000457|VHOG:0001130|UMLS:C0582819|MA:0001279 http://upload.wikimedia.org/wikipedia/commons/e/e8/Eyemuscles.png uberon owl:Class The ability to rotate the eyeball is common to all vertebrates with well-developed eyes, regardless of the habitat in which they live, so these [extrinsic ocular] muscles tend to be conservative. They change little during the course of evolution.[well established][VHOG] UBERON:0004467 biolink:NamedThing musculature of pharynx The collection of muscles that acts on the pharynx. tmpxe7fu0cj_hp_relaxed.owl set of muscles of pharynx|pharyngeal musculature TAO:0001307|FMA:264609|ZFA:0001307 See comments for 'pharyngeal muscle' uberon owl:Class GO:0060786 biolink:NamedThing regulation of cell differentiation involved in tissue homeostasis Any process that modulates the frequency, rate or extent of cell differentiation that contributes to the maintenance of a steady state of a cell type within a tissue. tmpxe7fu0cj_hp_relaxed.owl dph 2009-07-31T01:55:19Z biological_process owl:Class Nd58e40e3f5774b52bbd796894cb64222 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6ac8644812ac49e3a0019ddbbe5ce819 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0ca592d0ac9841aaadf89306457de8e2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N027a11096a55455ca1781a80797ce249 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003048 biolink:NamedThing Radial head subluxation Partial dislocation of the head of the radius. tmpxe7fu0cj_hp_relaxed.owl Radial-head subluxation|Radial subluxation SNOMEDCT_US:95854004|UMLS:C0149977|SNOMEDCT_US:417109008 human_phenotype owl:Class N18e711b0e1264edd92d54c8de4edf7f6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na70ec76a023e49dd9f63de1e1a44c7d0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N33119d495f6f47c385788c446b2e3964 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N44bf0cb9364f4300bbdb88f704585f2e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N356101f017db4823b6e24df48ee40596 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndbc71abf49864237bef20b8f5054ac49 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N89443c3acbd04cc586dc660257c160f0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012802 biolink:NamedThing Broad jaw Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). tmpxe7fu0cj_hp_relaxed.owl Broad mandible|Broad lower face|Wide mandible|Broad jaw|Wide jaw UMLS:C3281059 The lower jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. When a broad jaw is accompanied by a broad upper face the term Square face is used. hecht 2014-05-25T02:41:43Z human_phenotype owl:Class N8e37579589e3469fb32c3cae38d1d095 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011965 biolink:NamedThing Abnormal circulating citrulline concentration Any deviation from the normal concentration of citrulline in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023103 Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle. peter 2012-07-18T08:21:59Z owl:Class Na02b5ce28d274ee2854ea8f9c385ab38 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5ad26f344c9d47f0b30818e7b6f3baef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfcd33226cbb64fcdb9fb14848e33dc79 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N90ad04f009d848fdb66327f067d1543d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0031514 biolink:NamedThing motile cilium A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. tmpxe7fu0cj_hp_relaxed.owl motile primary cilium|microtubule-based flagellum|motile secondary cilium|motile primary cilia|nodal cilium|motile cilia GO:0009434|GO:0031512 cellular_component owl:Class N0b74390c680b44d5a7148b7a3f976f87 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HGNC:7045 biolink:NamedThing MGAT2 (human) A protein coding gene MGAT2 in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class CL:0002453 biolink:NamedThing oligodendrocyte precursor cell The cell type from which oligodendrocytes develop. This cell originates from multiple structures within the developing brain including the medial ganglion eminence and the lateral ganglionic eminence. These cells migrate throughout the central nervous system and persist into adulthood where they play an important role in remyelination of injured neurons. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2010-11-10T02:51:34Z cell owl:Class HP:3000018 biolink:NamedThing Abnormality of zygomaticus major muscle An abnormality of a zygomaticus major muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073227 vasilevs 2015-02-26T03:59:07Z human_phenotype owl:Class Nfa65e9d96c214503acec417ad7abdd31 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3827151dfb1843f8b1f9a9bfdf369248 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N995985e4fd364fb4b4e085628be48a6b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012343 biolink:NamedThing Decreased circulating ferritin concentration Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased plasma ferritin|Decreased serum ferritin|Low ferritin level|Reduced serum ferritin UMLS:C0241012 Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction. peter 2013-09-13T09:51:46Z owl:Class Nee23269ed10744d88a66464ca52e7178 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007175 biolink:NamedThing inferior angle of scapula An angle of the scapula formed by the union of the vertebral and axillary borders; its dorsal surface affords attachment to the Teres major and frequently to a few fibers of the Latissimus dorsi.[WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl angulus inferior scapulae|angulus inferior (scapula) FMA:13315|EMAPA:25128 uberon owl:Class N5da02eb5eedd4dcc9de886434bd0a295 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N71ecff4da6de43e18f5e0feeae01cd11 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N38e2b7f73f0344408f3c1c15201b4500 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6d94e2e10c28447382ae4d703e3bcd83 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3a64a217984e4936a4409f59a32d99ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0050885 biolink:NamedThing neuromuscular process controlling balance tmpxe7fu0cj_hp_relaxed.owl owl:Class Na6de6f744b7e403abdeeb1c55705b320 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd5439358a52142a09c319cbb3e25aeba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N398abda941324dba93b5be3c406c6d60 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndee6b361b5a34612995a1440eedb61a9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N477800c211994bcdaab187a84d4866d4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N58f461f935164edf869b0f693e4f30a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N26b84125712f42c393d361df350d0652 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004462 biolink:NamedThing musculature of body wall Any collection of muscles that is part of a body wall [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl body wall musculature|body wall muscles BSA:0000058|WBbt:0005813|BTO:0001863|EMAPA:37853|FMA:86931 uberon owl:Class define generically to encompass both vertebrates and invertebrates UBERON:0000309 biolink:NamedThing body wall The external portion of an animal body derived from ectoderm and mesoderm layers that encloses the body cavity. tmpxe7fu0cj_hp_relaxed.owl wall of trunk|trunk wall|wall fo trunk FMA:10427|galen:BodyWall|EMAPA:32761|BTO:0000139 uberon owl:Class defined generically to encompass both vertebrates and invertebrates the BTO class refers to earthworms. HGNC:6563 biolink:NamedThing LGALS3 (human) A protein coding gene LGALS3 in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class N0809f621d7d043c5a0411497187b10cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0020358 biolink:NamedThing accessory XI nerve nucleus The spinal accessory nucleus lies within the cervical spinal cord (C1-C5) in the ventral horn. The nucleus ambiguus is classically said to provide the 'cranial component' of the accessory nerve. However, the very existence of this cranial component has been recently questioned and seen as contributing exclusively to the vagus nerve. The terminology continues to be used in describing both human anatomy, and that of other animals. tmpxe7fu0cj_hp_relaxed.owl accessory nucleus of anterior column of spinal cord|nucleus of the accessory nerve|nucleus nervi accessorii|nucleus of the spinal accessory nerve|accessory neural nucleus|nucleus of accessory nerve|spinal accessory nucleus|nucleus accessorius columnae anterioris medullae spinalis FMA:83965|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2003|Wikipedia:Spinal_accessory_nucleus|EMAPA:37067|MA:0001033 See also: Wikipedia:Spinal_accessory_nucleus uberon owl:Class HP:0000200 biolink:NamedThing Short lingual frenulum The presence of an abnormally short lingual frenulum. tmpxe7fu0cj_hp_relaxed.owl Deficiency of lingual frenulum|Hypoplasia of lingual frenum|Short lingual frenum|Hypoplasia of lingual frenulum|Short tongue frenulum|Short tongue frenum|Tight lingual frenulum|Hypoplasia of tongue frenulum|Hypoplasia of tongue frenum UMLS:C4280673|SNOMEDCT_US:249388005|UMLS:C0426501 human_phenotype owl:Class Nc2074a93c12743a98d5209de7b5262d5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N48fcb10de77a4e85a6bbf5e5849f1e87 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N90eb69306b25461082d1d2927c17a931 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ned8018b924e94a499d81ed53ba65bb3d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0430000 biolink:NamedThing Abnormality of the frontal bone An abnormality of the frontal bone. tmpxe7fu0cj_hp_relaxed.owl Deformity of the frontal bone|Anomaly of the frontal bone|Abnormality of the bone of the forehead|Malformation of the frontal bone|Abnormal morphology of frontal bone UMLS:C4021873 owl:Class N4fc114705ea04c68a410493804c895a7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nccfb172c75c74f2b9776efc874a06c50 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002460 biolink:NamedThing vesical vein A tributary of the iliac vein that drains the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl vesical veins set|venae vesicales|vesical veins EMAPA:37205|MA:0002263 http://upload.wikimedia.org/wikipedia/commons/b/bd/Gray585.png uberon owl:Class N6151dd4a831c4d808902239107e51e3a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N20f04c2c14af4432847be473ca1b0748 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc1482f166fdd4e4e987fb9724506c80e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7b347070debf4520a9ad7f55a7530ce9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003320 biolink:NamedThing C1-C2 subluxation A partial dislocation of the atlantoaxial joints. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1848446 A subluxation affecting the intervertebral joint between the first and second cervical vertebrae. human_phenotype owl:Class Nd11b8839413849f1873f2cc945f3a558 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060842 biolink:NamedThing arterial endothelial cell differentiation The process in which a relatively unspecialized endothelial cell acquires specialized features of an arterial endothelial cell, a thin flattened cell that lines the inside surfaces of arteries. tmpxe7fu0cj_hp_relaxed.owl dph 2009-08-12T10:41:34Z biological_process owl:Class Nc57418b1e59e48bb8a6ff8ca3e390fe9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncb28d8e5b6954be28d26176155dac85c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N36cea5d6dd854aadb245378fc09262b9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N06ecb6dd0be240e6a9396caabb3701b0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N63207f7053b94d53999184840031edf1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2d45d22777b64825941f443a5616e9e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5712b6b3fdaa45768cb93e18e39da026 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd4434a3deb12480ab15108a190301cd5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf6d041303e61492ab3ef1a6aad0f9c44 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb76af8211c644225aa2b2272f8b6db1d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf00d28c152344eabb05832ff6e609885 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neccf2fbf656d490280f01e87a01efe22 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N476b5aa7bddb4aa182d05a4691890342 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8543f2e864594a0ca3054ed43f3a62e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0989d1e5eec9496ea822e96601f0e27e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nef776fdf467d4a30b59d5c57252f2b1e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0041219 biolink:NamedThing Fractured elbow A partial or complete breakage of the elbow. tmpxe7fu0cj_hp_relaxed.owl bone elbow owl:Class N7d3e1c229e5246d6ac11d2ea5c55201a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6ea59ac57f30432784964d713d61b2bc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0817d550a6b0401b83df9cb007d7e3d0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncacda79bd16746a88b00a67d264fc2e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncdc4787469bc44529913113201b7ad00 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N284cea638d6547bda056c07448ef104b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500248 biolink:NamedThing Increased CSF alpha-aminobutyrate concentration Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High alpha-aminobutyrate levels in cerebrospinal fluid 2019-02-26 15:59:28+00:00 owl:Class N860106cff0cf4b62a8bb8b39cad40bbb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd2112852207c484ca8bb6fe2ebce79c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc0264237b36a4a4d8809e77f11e7e692 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd69f6cf6a3724808a1a3419114b6fcd3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4d7a1f825a2c4cb28ae575b765d8a778 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410214 biolink:NamedThing Hypercapnia in cord blood Abnormally elevated blood carbon dioxide (CO2) level in the cord blood. tmpxe7fu0cj_hp_relaxed.owl High cord blood carbon dioxide level 2018-09-12 00:44:30+00:00 owl:Class Ncdba790342e84e5da56357131994a6d4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0070341 biolink:NamedThing fat cell proliferation The multiplication or reproduction of fat cells by cell division, resulting in the expansion of their population. A fat cell is an animal connective tissue cell specialized for the synthesis and storage of fat. tmpxe7fu0cj_hp_relaxed.owl adipose cell proliferation|adipocyte proliferation biological_process owl:Class N20e25ce4a5d341e68add2da6809b3117 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1a53681c075b4b158a0c0328790a8313 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N146fbc921664410dbccae71e901ebb8a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndcff41609a2e4b528b644a1a965c7c34 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc6b0c8c43ff843d9ae7de4f7a42eba2c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001738 biolink:NamedThing thyroid cartilage The largest of the laryngeal cartilages. tmpxe7fu0cj_hp_relaxed.owl cartilago thyroidea|laryngeal prominence|pomus adamus|pomus EHDAA2:0002030|MESH:A02.165.507.870|BTO:0003655|NCIT:C33780|EMAPA:18698|VHOG:0001365|MA:0001764|UMLS:C0040126|FMA:55099|GAID:112|EHDAA:9395 http://upload.wikimedia.org/wikipedia/commons/8/8a/Larynx_external_en.svg uberon owl:Class The largest cartilage of the larynx, having two broad processes that join anteriorly to form the Adam's apple. [TFD][VHOG] [In anura] a dorsal pair of arytenoid cartilages (...), which support vocal cords, and a ventral pair (often fused) of cricoid cartilage (...). These cartilages are regarded as derivatives of posterior visceral arches of ancestors. Together they constitute the larynx, a structure characteristic of tetrapods. (...) [In mammals] Paired arytenoid cartilages help support and control the vocal cords. The cricoid cartilage is single. Two additional cartilages are present that are lacking in other vertebrates: a large ventral thyroid cartilage (...) and a cartilage in the epiglottis.[well established][VHOG] N7a29b6dcb7414b4b9d4a65dc76b591a7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4fd877e262f547cc94c198ed5dc7ef42 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3750d3494d97430e96cae2f657563e21 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3ad3faed08084121af1f4e5923854de5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8de6ecdf589745d6a18aa9771391db92 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N65e69327db7346d599e1487d0d1138e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0d93f1a1386b43ca9098d19c6e816c13 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8b0761f005dc41ce8a3db38f66de6fae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncc8bc7fabec1471e99e3cb8b6fc03562 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N091deb594e854ee788f12b63fbd94b43 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035039 biolink:NamedThing rectal artery tmpxe7fu0cj_hp_relaxed.owl hemorrhoidal artery uberon owl:Class N1ef5e8069f2149be9231f689035b360c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410195 biolink:NamedThing Decreased uridine diphosphate glucose-4-epimerase level in plasma A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. tmpxe7fu0cj_hp_relaxed.owl Decreased UDP-glucose 4-epimerase level in plasma 2018-05-21 18:23:54+00:00 owl:Class N63643a3c01dd4ce2a860f799c9906fa5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N05a7a0b7ed1e44a48e759ce6ec699da6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N66922b7951414b6cbc1978b5e26f0c92 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N16020156371e45baae8eb627f21584d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6564fb558b974db781663e0a02deb56c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004030 biolink:NamedThing Patchy sclerosis of radial diaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025431 human_phenotype owl:Class N6456549b220949a8bdcb9bae1ba600b7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N52d2cf1fb2914006b89ecdcfef5aaac5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:P08101 biolink:NamedThing low affinity immunoglobulin gamma Fc region receptor II (mouse) A low affinity immunoglobulin gamma Fc region receptor II that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl Fcgr2b|Fcgr2|Fc gamma receptor IIB (mouse)|Fc-gamma-RIIB (mouse)|CD32 (mouse)|lymphocyte antigen 17 (mouse)|IgG Fc receptor II beta (mouse)|Fc-gamma RII (mouse)|mFcgr2|FcRII (mouse)|Ly-17 UniProtKB:P08101 Category=organism-gene. protein owl:Class Nd4906cb6cb444b1d8ed66874d3de7694 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000675 biolink:NamedThing Macrodontia of permanent maxillary central incisor Increased size of the maxillary central secondary incisor tooth. tmpxe7fu0cj_hp_relaxed.owl Hypertrophy of permanent maxillary central incisor|Prominent upper incisors|Increased size of permanent maxillary central incisor|Increased width of permanent maxillary central incisor|Large permanent maxillary central incisor|Prominent, protruding upper incisors|Hyperplasia of permanent maxillary central incisor|Increased width of permanent upper central incisor|Increased size of permanent upper central incisor|Large permanent upper central incisor|Long maxillary central incisors UMLS:C1835095|UMLS:C4280621|UMLS:C4280620|UMLS:C4280263 human_phenotype owl:Class Naade4426f39f471a9ede5c2a4708f413 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3d1d7fb35a9349729ac73a7ccfd7353d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0e3868f7778d4c51a9b0902fed04e7ab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne7315f3178f64544ae4cbde7af729537 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb452bd7379744ce4ad6466c17f209982 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N665effd5ca184e13a76bf5ef9cfda72c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6756d09a4f634b5db261195802540a6a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N35a73308753c4f8491f88b72bd0dac67 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3ba12864e7c6447cae78f221afc5c119 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd449590e0fad412d8c286adbdf7fc24f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N622984145bf34c4ab495b4fe8f9de510 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1cfb8799d06647028bca4b73441feefd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na9e615f6f43a416c9c649b545426fd90 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb33625e7faf44177ba9f08377bda7c93 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N61bcdb0048f44deab1c14a06dc9b8dd3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8259e9b85cba4b55b32bc03bbabaa6ec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N97c9aeceaff442478f9cf66fa5a37017 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007756 biolink:NamedThing metatarsophalangeal joint of pedal digit 3 A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 3. tmpxe7fu0cj_hp_relaxed.owl metatarsophalangeal joint of pedal digit III|metatarsophalangeal joint of third toe|metatarsophalangeal joint of third digit of foot EMAPA:26460|FMA:35234 uberon owl:Class the name of the structure in EMAPA is incorrect N01bf1ee1b8144cc9af3dd05611baad6a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N40a30e1be5034846904748da39c1b363 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne5dc2fa0721d4f7f95facacb894c1262 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040301 biolink:NamedThing Increased urinary glycerol An increased concentration of glycerol in the urine. tmpxe7fu0cj_hp_relaxed.owl owl:Class N02d438ff9eb14472893146f2cbeb7e32 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6996bbb3eaab4b5096a2a756ee0cce95 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne83668c525184b4da31b1c0469ad8af8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N667bd6aa61184d8990d5a8d95f71afa1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6d9b43cdbb7141d4a167bba6b85fe1d3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0035592 biolink:NamedThing establishment of protein localization to extracellular region The directed movement of a protein to a specific location within the extracellular region. tmpxe7fu0cj_hp_relaxed.owl establishment of protein localisation in extracellular region|establishment of protein localization in extracellular region bf 2010-11-09T10:25:08Z biological_process owl:Class N2484ae50168e4ff485808d7354597455 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne39b48b2e736477e840422a4e44b8031 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na88d4787a2be4c2291af3bde6209d1cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncbeb956bc12a408f8f52a76df38e87b0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N298c9201148e4822a0a2e80b98124d97 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N02f0a55bed8a48fe8ffcbcf6f41638cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N463aaf37578f41ff910548fa49c4f949 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndb254f37f572431d9c4c44349598b062 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0025321 biolink:NamedThing Copper accumulation in liver An anomalous build up of copper (Cu) in the liver. tmpxe7fu0cj_hp_relaxed.owl Liver copper accumulation 2017-02-03 11:46:21+00:00 HPO:probinson owl:Class N713c225b2b3241159e4709d8d6cefa26 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0200147 biolink:NamedThing Neuronal loss in basal ganglia A reduction in the number of nerve cells in the basal ganglia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2750913 See Fig. 11 in PMID:13729575. sebastiankohler 2013-06-13T12:59:06Z human_phenotype owl:Class Nb9da3ab3891748c9b51ada8d25c211c0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc8901cb5e6da4c77b082ddabe82fb15c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nef97d9bc8ed7493ebfe28781fd76a51b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndf180e7b6d0548549832ae1f2fe53899 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N80eebc3016e845abb57fe6f8df1cbe48 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0062237 biolink:NamedThing protein localization to postsynapse Any process in which a protein is transported to, and/or maintained at the postsynapse, the part of a synapse that is part of the post-synaptic cell. tmpxe7fu0cj_hp_relaxed.owl dph 2020-04-20T13:58:43Z biological_process owl:Class N41272597d2cf498384c00b5175985491 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N50544a6b4aa240fe9e0a37203b43492b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000741 biolink:NamedThing Apathy tmpxe7fu0cj_hp_relaxed.owl Lack of feeling, emotion, interest MSH:D057565|UMLS:C0085632|SNOMEDCT_US:20602000 human_phenotype owl:Class N6f4feb3a7abd4096a9fe6ecb2ff863ca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfe2890ab632c4eee88ef1c9a58f548d3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne831afcb238d46589e8ff487155a5a3c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9bdddc99bd6b43098c17ebfe2ba4622b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004591 biolink:NamedThing Disc-like vertebral bodies tmpxe7fu0cj_hp_relaxed.owl UMLS:C1835444 human_phenotype owl:Class N6db1df32544f4ff9aac87bec52005be7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N92bc388201584ef08e17cb534e440e78 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006538 biolink:NamedThing respiratory system fluid/secretion A portion of organism substance that secreted_by a respiratory system. tmpxe7fu0cj_hp_relaxed.owl respiratory system secretion|respiratory system fluid UMLS:C1514899|MA:0002533|NCIT:C13722|EMAPA:36550 uberon owl:Class HP:0011509 biolink:NamedThing Macular hyperpigmentation Increased amount of pigmentation in the macula lutea. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0745109 peter 2012-04-06T09:52:11Z human_phenotype owl:Class Nfdf1ebbd2bd54315ad300abfdf7fe815 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100103 biolink:NamedThing Enlarged epiphysis of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the outermost bone of the 2nd toe UMLS:C4022318 doelkens 2010-06-24T10:04:20Z human_phenotype owl:Class Nb789ce4fb3d94deaa4e6660b9b776cbf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0018303 biolink:NamedThing adrenal tissue Tissue that is part of some adrenal gland. tmpxe7fu0cj_hp_relaxed.owl adrenal gland tissue UBERONTEMP:a7bf197b-0db2-467e-824e-be45b39e2672|NCIT:C32051 TODO - describe typology of adrenal gland tissue used in this ontology uberon owl:Class Nc23c0cab15f5417bacd2154766f2c6f3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002822 biolink:NamedThing Hyperplasia of the femoral trochanters tmpxe7fu0cj_hp_relaxed.owl Hyperplastic femoral trochanters UMLS:C3277120 human_phenotype owl:Class N3d8cbd66b0354c4285e076f8f4978a46 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008344 biolink:NamedThing intestinal villus of ileum An intestinal villus in the ileum. tmpxe7fu0cj_hp_relaxed.owl FMA:63302 uberon owl:Class N330d606cad0d49bcaf5e8b341ed4bd44 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N97bafdf031dc4049b53f9e8d62d57515 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002732 biolink:NamedThing Lymph node hypoplasia Underdevelopment of the lymph nodes. tmpxe7fu0cj_hp_relaxed.owl Small lymph nodes UMLS:C4025683|UMLS:C1865377 human_phenotype owl:Class N69656437a43f42b99fba90aed4bf779a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003246 biolink:NamedThing Prominent scrotal raphe Increased size of the ridge of tissue that extends along the midline of the scrotum. tmpxe7fu0cj_hp_relaxed.owl Prominent perineal raphe UMLS:C1852407 human_phenotype owl:Class Ndb999759be574d90b4c1c05defdbd51c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N083cc21da2844d80aa04524a7175b91e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd88343b1c5a644f3b0a2b43ec97858b3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N71295ed46017432f8aa82e413410f8b4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf1b869f56bf74a4ab5e7e6a8e6b69757 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:63248 biolink:NamedThing oxidising agent A substance that removes electrons from another reactant in a redox reaction. tmpxe7fu0cj_hp_relaxed.owl oxidiser|oxidants|oxidizing agents|oxidant|oxidizer|oxidizers|oxidising agents|oxidisers|oxidizing agent chebi_ontology owl:Class HP:0010129 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the innermost bone of the big toe UMLS:C4024030 doelkens 2009-05-29T01:22:23Z human_phenotype owl:Class N684cb841502841048dddcfca41a43f50 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060976 biolink:NamedThing coronary vasculature development The process whose specific outcome is the progression of the blood vessels of the heart over time, from its formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl heart vasculature development|cardiac blood vessel development|cardiac vasculature development|coronary blood vessel development|heart blood vessel development dph 2009-10-06T12:15:23Z biological_process owl:Class N2eb001e0192343d5bb9c20584b0f4e63 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4f30e6ba66a546098cdc3aabba490299 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3f5e513c07ae4d4c855af1ab039f8123 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na45e415b0ef44399a1b95cd1da4e5dc7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2ca91349843e430484b24ba02ecae767 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005326 biolink:NamedThing mesonephric glomerulus vasculature The mesonephric glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the mesonephric glomerulus[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class Na04135188762438a9cfb42de19e97b12 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd72b27cf797042c081dddca32d3a6a4c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002557 biolink:NamedThing fibroblast of pulmonary artery A fibroblast of pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-02-28T05:22:27Z cell owl:Class N81f03988ffb64439bbe8ae1c96d93706 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N615ab7804fe5469095d09da64735a1c1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N453f1be95a404b858c6b5875f43a4ec5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500239 biolink:NamedThing Increased CSF albumin concentration tmpxe7fu0cj_hp_relaxed.owl High albumin levels in cerebrospinal fluid 2019-02-26 15:00:54+00:00 Abnormally increased levels of albumin in cerebrospinal fluid. owl:Class N0d11c9a44bfb4776b7f59798ed8360f0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na7032d0f365146e39314a096e3ea09f0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4456fb0f7d88422f892d07f2d302f76c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9ba157ae5b744af9b14200603e14e991 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N76da65addd6b41ffa3a578d3cdf7dc93 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004409 biolink:NamedThing Hyposmia A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). tmpxe7fu0cj_hp_relaxed.owl Decreased smell sensation|Sense of smell impaired UMLS:C2364082|SNOMEDCT_US:83156004 peter 2008-03-18T09:21:00Z owl:Class Nc8ea10f52fbf47bf91cf0ef50938d9a7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9c69231921a5415fa9cb19b067a9ee97 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbde5cfb1afed474fbf28423f166fc3ae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8a8b715a249f41038a6088769e5ff665 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:000050343 biolink:NamedThing alkaline phosphatase (human) A protein that is a translation product of any of the following alkaline phosphatase genes in human: ALPG (encoding the germinal form; GCAP), ALPP (encoding the placental form; PLAP), ALPI (encoding the intestinal form; IAP), and ALPL (encoding the tissue non-specific form; TNAP). tmpxe7fu0cj_hp_relaxed.owl fam:hAP Category=organism-family. Requested by=MAxO. protein owl:Class N9526876969d3423b956249cb69c748ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0031424 biolink:NamedThing keratinization The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N6d594f127de34abb8cac5a9eff7d5e56 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001093 biolink:NamedThing Optic nerve dysplasia The presence of developmental dysplasia of the optic nerve. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2676026 human_phenotype owl:Class N1e90872f002f4826b483b3a581ef72ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007726 biolink:NamedThing interphalangeal joint of pedal digit 3 An interphalangeal joint of pes that is part of a pedal digit 3. tmpxe7fu0cj_hp_relaxed.owl interphalangeal joint of third digit of foot|interphalangeal joint of pedal digit III|interphalangeal joint of third toe EMAPA:26454|FMA:35359 uberon owl:Class Nd5f585a7993e46279661439cb1803f06 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na199e4a7076640c2843f826ed9c74ab9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8d9316354789436a9a80c00e38762d24 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9384a0cf5ca2459aac09e01b78bddce4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1c4fca71f2ed469996006ce551dab4f0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N11aae2e53eac463797fd94039b9c47e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N987887ee990c407ba4d1dfcb642c392f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013680 biolink:NamedThing inner canthus of left eye An inner canthus that is part of a left eye. tmpxe7fu0cj_hp_relaxed.owl medial canthus of left eye|medial angle of left eye|left medial canthus|left inner canthus|left medial palpebral commissure FMA:59320 uberon owl:Class Na489ea5c9600496f87551811571d918e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6618fcc4bc27462b814c5b7746ad8e09 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb31d79ab39304797b9f0ae4f04063b50 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N598a597a044f46d293690115fec8bf1b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003881 biolink:NamedThing Humeral sclerosis tmpxe7fu0cj_hp_relaxed.owl Sclerosis of humerus|Increased bone density in long bone of upper arm UMLS:C4021716 human_phenotype owl:Class N9216f0861630429a8eb3d1eb02b6a027 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001186 biolink:NamedThing left renal artery Renal artery that supplies the left kidney. tmpxe7fu0cj_hp_relaxed.owl left renal arterial tree NCIT:C52741|MA:0002036|UMLS:C0226333|OpenCyc:Mx8Ngh4rvgIFoJwpEbGdrcN5Y29ycB4rveOFHpwpEbGdrcN5Y29ycA|FMA:14753|EMAPA:37098|OpenCyc:Mx4rtW8I0agEEdudWQACs5b6Bw The left [renal artery] is somewhat higher than the right; it lies behind the left renal vein, the body of the pancreas and the splenic vein, and is crossed by the inferior mesenteric vein[WP] uberon owl:Class N0bf459728cdd45c19c27b4e35110686a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na9bdc0b0d0fe4e11a5ef102472f89e29 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004621 biolink:NamedThing Enlarged vertebral pedicles Increased size of the vertebral pedicle. tmpxe7fu0cj_hp_relaxed.owl Hyperplastic vertebral pedicles UMLS:C4025303 The vertebral pedicles are the two short, thick processes, which connect the body of the spinal vertebra to the arch. human_phenotype owl:Class Nff69da332c6245c0bc7439a632fa9419 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfb9209228cdc4e7391d80c4b725bf7db biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0046323 biolink:NamedThing glucose import The directed movement of the hexose monosaccharide glucose into a cell or organelle. tmpxe7fu0cj_hp_relaxed.owl glucose uptake Wikipedia:Glucose_uptake biological_process owl:Class UBERON:0010055 biolink:NamedThing stapes cartilage element A stapes endochondral element that is composed primarily of cartilage tissue. tmpxe7fu0cj_hp_relaxed.owl EMAPA:18230 TODO - check relationship to Recihert's uberon owl:Class The stapes is homologous to the hyomandibula. In this ontology, we use the class 'hyomandibular cartilage' generally to include the future stapes, the future hyomandibular bone of teleosts and the unossified cartilage in sharks. Nac4235e5b8f74b7ca825fd0efdef7a78 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001162 biolink:NamedThing increased concentration A concentration which is higher relative to the normal or average. tmpxe7fu0cj_hp_relaxed.owl high concentration quality owl:Class N1b20c122b860498eab30e2a5583d73e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:1000310 biolink:NamedThing adipocyte of epicardial fat of right ventricle A fat cell that is part of the epicardial fat of right ventricle. tmpxe7fu0cj_hp_relaxed.owl epicardial adipocyte of right ventricle|epicardial fat cell of right ventricle FMA:261297 cell owl:Class Nab5459377c6d4c0cb917542dd37d12ab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N75cc1f430b41494cb16ef508b1e65bd4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030715 biolink:NamedThing Bronchial atresia A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. tmpxe7fu0cj_hp_relaxed.owl Congenital bronchial atresia SNOMEDCT_US:50513008|UMLS:C0265776 owl:Class N044e4f3878fe409e825004e96267c8ff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N26318a9ea7114953a7169dd7f4a08b80 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004353 biolink:NamedThing Abnormal circulating pyrimidine concentration Any deviation from the normal concentration of a pyrimidine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025345 peter 2008-03-17T01:05:00Z human_phenotype owl:Class N18ca256c633d4b40855de455b9945384 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004326 biolink:NamedThing Cachexia Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. tmpxe7fu0cj_hp_relaxed.owl Wasting syndrome SNOMEDCT_US:238108007|UMLS:C0006625|MSH:D002100|SNOMEDCT_US:285384003 peter 2008-02-27T03:23:00Z human_phenotype owl:Class Nf99b86099e154a7e81d5acd8d522da3b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfdaa707bce6849d383c6c4332d793ed0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3ce63acd16f941409bfe99037082bd9e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009746 biolink:NamedThing Thick nasal septum Abnormally increased thickness of the nasal septum. tmpxe7fu0cj_hp_relaxed.owl Thick nasal septum|Wide septum of nose|Wide nasal septum|Broad nasal septum|Broad septum of nose|Thick septum of nose UMLS:C1844810 peter 2009-01-31T02:44:09Z human_phenotype owl:Class N95938a26992243049ab6c36e90483a8b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N477c590d21024ceab689d4041e614059 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0008078 biolink:NamedThing mesodermal cell migration The orderly movement of mesodermal cells from one site to another. tmpxe7fu0cj_hp_relaxed.owl mesoderm cell migration biological_process owl:Class CL:1000488 biolink:NamedThing cholangiocyte An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. tmpxe7fu0cj_hp_relaxed.owl epithelial cell of bile duct FMA:86481 cell owl:Class GO:1905460 biolink:NamedThing negative regulation of vascular associated smooth muscle cell apoptotic process Any process that stops, prevents or reduces the frequency, rate or extent of vascular associated smooth muscle cell apoptotic process. tmpxe7fu0cj_hp_relaxed.owl inhibition of vascular associated smooth muscle cell apoptosis|down-regulation of vascular smooth muscle cell apoptotic process|downregulation of VSMC apoptotic process|negative regulation of vascular associated smooth muscle cell apoptosis|inhibition of vascular smooth muscle cell apoptotic process|negative regulation of VSMC apoptosis|down-regulation of VSMC apoptosis|downregulation of VSMC apoptosis|downregulation of vascular smooth muscle cell apoptosis|down regulation of vascular associated smooth muscle cell apoptotic process|negative regulation of vascular smooth muscle cell apoptosis|inhibition of vascular associated smooth muscle cell apoptotic process|down regulation of vascular associated smooth muscle cell apoptosis|down-regulation of VSMC apoptotic process|downregulation of vascular associated smooth muscle cell apoptotic process|inhibition of VSMC apoptotic process|inhibition of vascular smooth muscle cell apoptosis|down regulation of vascular smooth muscle cell apoptosis|down regulation of VSMC apoptosis|negative regulation of VSMC apoptotic process|negative regulation of vascular smooth muscle cell apoptotic process|down-regulation of vascular associated smooth muscle cell apoptotic process|down-regulation of vascular associated smooth muscle cell apoptosis|down-regulation of vascular smooth muscle cell apoptosis|down regulation of VSMC apoptotic process|downregulation of vascular associated smooth muscle cell apoptosis|down regulation of vascular smooth muscle cell apoptotic process|inhibition of VSMC apoptosis|downregulation of vascular smooth muscle cell apoptotic process rph 2016-09-19T11:34:03Z biological_process owl:Class HP:0000350 biolink:NamedThing Small forehead The presence of a forehead that is abnormally small. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of forehead|Hypotrophic forehead|Small forehead|Decreased size of forehead|Decreased size of frontal region of face UMLS:C4280633|UMLS:C4280634|UMLS:C1845250 human_phenotype owl:Class N4ccb6e1cae5d474384fcf38209c1ff33 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N78228a0bcff44759b7f83db1fffd8cdf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4cff057b44484200a3f76eab65d02f17 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfa15d90ea95848ac96580f36928d703a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb87c4e93bc2c4ece91e416b02724c5fe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N962738d8afe245aa8c48051d56fb1802 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfd91a0db829e4b04bd9777765a738b49 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf7c9823f79f04c84aca790d787747402 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N09b34b86c1e54183bd1d48f1079bd919 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfcf541e33b604710b893790af400c8a7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010290 biolink:NamedThing Short hard palate Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective). tmpxe7fu0cj_hp_relaxed.owl Decreased length of hard palate|Short palate|Hypoplastic palate UMLS:C4020772|UMLS:C4023918|UMLS:C1398301 Objective measurement of the hard palate requires special instrumentation [Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers]. A short hard palate may be associated with velopharyngeal incompetence. peter 2009-07-12T11:28:44Z human_phenotype owl:Class N797a73a1c11f4e9e9378d179401038d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc8b791690aa245aaa72c81da6faf4a05 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0f6687daf54644ef8d6d7b4fa1d2af92 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001410 biolink:NamedThing striated A shape quality inhering in a bearer by virtue of the bearer's being marked by narrow lines or grooves, usually parallel. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class CL:0000980 biolink:NamedThing plasmablast An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative. tmpxe7fu0cj_hp_relaxed.owl CD27-positive, CD38-positive, CD20-negative B cell|CD20-negative B cell FMA:84371 This cell type is compatible with the HIPC Lyoplate markers for 'plasmablast'. Plasmablasts are also reportedly CD48-positive, CD63-positive, CD229-positive, CD270-positive, CD319-positive, CD352-positive, CD361-positive, and IgD-negative. cell owl:Class N848943affdc8439bbbe89c36d3c14099 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:29993 biolink:NamedThing L-aspartate(2-) An aspartate(2-) that is the conjugate base of L-aspartate(1-). tmpxe7fu0cj_hp_relaxed.owl (2S)-2-aminosuccinate|L-aspartate(2-)|L-aspartic acid dianion|L-aspartate|(2S)-2-aminobutanedioate -2 C4H5NO4 InChI=1S/C4H7NO4/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H,6,7)(H,8,9)/p-2/t2-/m0/s1 CKLJMWTZIZZHCS-REOHCLBHSA-L 131.08684 131.02295 N[C@@H](CC([O-])=O)C([O-])=O Gmelin:327367|Reaxys:4133557|Beilstein:4133557 chebi_ontology owl:Class N276eca8be6a3476bbcb9f9d49536c624 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7114d2a84d9948489bae1302b7d2ff53 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N52e9ad4029a24ffdb54d412fc2a1766c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002588 biolink:NamedThing decussation of superior cerebellar peduncle Regional part of superior cerebellar peduncle located in the caudal midbrain, at the level of the inferior colliculus, consisting of a large bundle of fibers crossing the midline. It contains fibers projecting from the deep cerebellar nucleus to the midbrain and thalamus through the superior cerebellar peduncle (MM). The decussation of superior cerebellar peduncle is the portion of the superior cerebellar peduncle which crosses into the midbrain. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl decussation of the superior cerebellar peduncle|Wernekink's decussation|decussation of brachium conjunctivum|decussatio crurorum cerebello-cerebralium|decussatio brachii conjunctivi|decussatio pedunculorum cerebellarium superiorum|superior cerebellar peduncle decussation|decussation of the superior cerebellar peduncle (Wernekinck)|descussation of the scp|decussation of superior cerebellar peduncles MBA:812|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=527|BM:BCX|DHBA:12337|UMLS:C0152374|BAMS:dscp|BIRNLEX:1089|BAMS:xscp|HBA:265505482|FMA:72455 http://upload.wikimedia.org/wikipedia/commons/2/26/Gray711.png UBERON:0003032 uberon owl:Class N5114f58bfd8c44a6bffe464ebc3197aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncb7e47357e6849208cd53e1bdb4b3403 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N202ac9bed4ab45a691eb7ecd8f481fcf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N31cac5b96fc54dc8825db717390130e6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1a0f1b1d00574970b0ec31f93c9266f9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfcbb107d45664c069b24cb2478a4385a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N77c91df2ae924baaa7227639657a7672 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0002094 biolink:NamedThing basophilic An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific pH conditions. tmpxe7fu0cj_hp_relaxed.owl 2009-10-05T12:05:23Z quality owl:Class Nf7860bcce64847779714f51042c4b853 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006280 biolink:NamedThing Chronic pancreatitis A chronic form of pancreatitis. tmpxe7fu0cj_hp_relaxed.owl Chronic pancreas inflammation UMLS:C0149521|SNOMEDCT_US:235494005|SNOMEDCT_US:234689009|MSH:D050500|SNOMEDCT_US:233870001 human_phenotype owl:Class N9fb95ea8929e41298f8ef4a4d43b0b2a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf8260d66de044e38a681a1103a71d596 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006063 biolink:NamedThing cartilaginous neural arch One of the cartilaginous structures surrounding the embryonic spinal cord, formed by the dorsal growth of the dorsolateral arcualia; it is the primordium of the vertebral arch. tmpxe7fu0cj_hp_relaxed.owl neural arch primordium BTO:0001763 uberon owl:Class N5f73efc6c6324db493b46aa1e383c3a1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6e65230fd961495da74a4708fccb3195 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2d3adf41a05447fcb3aca84a222a119e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100461 biolink:NamedThing Patchy sclerosis of the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Uneven increase in bone density in the middle bone of the 3rd toe UMLS:C4022066 human_phenotype owl:Class N6c363dca07d94cf897ab7f4826d2293d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009032 biolink:NamedThing right pulmonary vein Vein that drains right lung and returns blood to the heart. tmpxe7fu0cj_hp_relaxed.owl NCIT:C48947|SCTID:304056008|EMAPA:37379|MA:0002208|UMLS:C0226669 uberon owl:Class A vein that returns oxygenated blood from the right lung to the left atrium of the heart[ncithesaurus:Right_Pulmonary_Vein]. Nc7555f816a204839b04601feae6e11b9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N24559075e1f547b2b527ba47c79fcb21 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0002000 biolink:NamedThing lacks all parts of type A quality of physical entities inhering in a bearer by virtue of the bearer's lacking a physical part as specified by the additional entity. tmpxe7fu0cj_hp_relaxed.owl lacks all physical parts of type OBO_REL:lacks_part Example: [E=organism Q=lacks_all_parts_of_type E2=Wing] - applies to an organism. A relational quality in which the bearer entity has no parts of the specified type. The bearer of this quality has_part = 0 of the indicated entity type, where a comparable organism usually has at least 1 part of the same type. Note that the bearer of the quality is the whole, not the part. Formally: If a bearer entity e lacks all parts of type X at time t, then there exists no instances x of X at t such that x part_of e that has no wings, where wings are normally present in that organism type. In OWL this is equivalent to a restriction on the OBO_REL:has_part relation with cardinality=0, i.e has_part 0 E2. PATO:0001557 quality owl:Class UBERON:0001189 biolink:NamedThing left testicular artery A testicular artery that supplies a left testicle. tmpxe7fu0cj_hp_relaxed.owl left spermatic artery|trunk of left testicular arterial tree FMA:14760|MA:0002041|UMLS:C0734077|NCIT:C52739|EMAPA:37099 uberon owl:Class N7c359489fc4440f5ab4f6c1c312da16d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014491 biolink:NamedThing middle phalanx of digit 5 A middle phalanx that is part of a digit 5 [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl middle phalanx of 5th digit|fifth middle phalanx|fifth digit intermediate phalanx|intermediate phalanx of digit 5|5th digit of intermediate phalanx|intermediate phalanx of fifth digit|digit V P2|digit 5 middle phalanx|middle phalanx of little digit|5th digit intermediate phalanx|intermediate phalanx of 5th digit|digit 5 intermediate phalanx|fifth digit middle phalanx|5th digit of middle phalanx|middle phalanx of fifth digit|5th digit middle phalanx|middle phalanx of digit V uberon owl:Class GO:0099643 biolink:NamedThing signal release from synapse Any signal release from a synapse. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Nf64a246b8b254419bd49d42b869494c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N552b25f1ec1e4a5c9209004257ee9d95 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:35825 biolink:NamedThing mandelic acid A 2-hydroxy monocarboxylic acid that is acetic acid in which two of the methyl hydrogens are substituted by phenyl and hydroxyl groups. tmpxe7fu0cj_hp_relaxed.owl Mandelsaeure|hydroxy(phenyl)acetic acid|(RS)-Mandelic acid|alpha-hydroxybenzeneacetic acid|DL-Mandelic acid|2-Hydroxy-2-phenylacetic acid|2-Hydroxy-2-phenylethanoic acid 0 C8H8O3 InChI=1S/C8H8O3/c9-7(8(10)11)6-4-2-1-3-5-6/h1-5,7,9H,(H,10,11) IWYDHOAUDWTVEP-UHFFFAOYSA-N 152.14732 152.04734 OC(C(O)=O)c1ccccc1 Reaxys:510011|Beilstein:510011|HMDB:HMDB0000703|PMID:22770225|Wikipedia:Mandelic_acid|PMID:24278065|Gmelin:218213|Drug_Central:1629|CAS:90-64-2|PMID:4813698 CHEBI:25149|CHEBI:32801 chebi_ontology owl:Class Na3e41fe3869d4b91a20fa15fe5a7dab9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N689ecf9bc1e449e389dfb532bd053ca7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4e2ee4697c0b480c83ae851fde9708b3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb244eb5a16fb4ed6b99efe0aa530df42 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nebc7b720988942a483669d89994169d1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9b6f25dce5324512a5606889e82b0961 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001260 biolink:NamedThing serosa of urinary bladder A serous membrane that is part of a urinary bladder [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl serous membrane of urinary bladder|tunica serosa vesicae|serous membrane of bladder|urinary bladder serous membrane|visceral peritoneum of urinary bladder|bladder serous membrane|serous coat of bladder|bladder serosa|urinary bladder serosa|serous coat of urinary bladder|tunica serosa (vesica urinaria)|serosa of bladder FMA:15932|EMAPA:28661|MA:0001696 TODO - check serosa/peritoneum uberon owl:Class N3c805497831740619d4f446f6067ea44 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne7cc86808bc5429abcfa4ea5ab2b1605 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf62d6c4a3ea341549bca56a996d8d735 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf860b3488ead4d32af593da13c5a1d63 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncea7b319bccf46b1963080a7cf3f97d1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc7f2df2100fd4afe88dc452b258c6e22 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0016430 biolink:NamedThing palmar branch of median nerve The palmar branch of the median nerve is a branch of the median nerve which arises at the lower part of the forearm and innervates skin of proximal central palm and thenar eminence. tmpxe7fu0cj_hp_relaxed.owl ramus palmaris (nervus medianus)|palmar cutaneous branch of median nerve|median nerve palmar branch|ramus palmaris nervus interossei antebrachii anterior|palmar branch of anterior interosseous nerve FMA:44836 uberon owl:Class does not pass through the carpal tunnel UBERON:0015120 biolink:NamedThing right outer canthus An outer canthus that is in_the_right_side_of a head. tmpxe7fu0cj_hp_relaxed.owl lateral angle of right eye|right lateral canthus|right angle of eye|right lateral palpebral commissure|lateral canthus of right eye FMA:59317 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern Na06c1731eb494fa1b3cd7791d071d7f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N89d0d3cb6a134459aa1da06fc1d010ee biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9ef4d5113f2a4ec5a78b2be41fd4b10e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na29b1446748845dca820d89d0878735a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8b5a27ba2cc34aefa8b4d10ffa5022ab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na4d43a7eb8394256914b9c1c4ad25b9c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl ENVO:00000446 biolink:NamedThing terrestrial biome tmpxe7fu0cj_hp_relaxed.owl owl:Class N1c6d0fb3fc2d461eb5dfc92fcb80a9f4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N870c7c6c296748c191972e7e12acfe87 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc8b864a3f02f4a16aaa013081fdaae6e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nea85f74f55964813a4e75f47facbce0b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbd81ad2407e248dcbe984a108de4f372 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na77efd56a5ac49a0ae59c5de30da3629 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N42dc54a4c2294aa5936b60563ed939e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009002 biolink:NamedThing Loss of truncal subcutaneous adipose tissue Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. tmpxe7fu0cj_hp_relaxed.owl Loss of subcutaneous truncal adipose tissue|Loss of truncal adipose tissue|Loss of fat tissue in trunk UMLS:C1835384 HP:0008989 human_phenotype owl:Class N15dd69f985e14788bb83bc1eecd0034e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb08dfb2eee694c30ade322eb4d48db4d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne367923cd0c046099503980064d1e578 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2142589795194a69b1446a301333dbd9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N27a4cd8be85b4cf5b5e60518ba724e5d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7de659a5d6384485b47c87481599050f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005195 biolink:NamedThing deferent duct vein A vein that is part of a vas deferens [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl MA:0002100|EMAPA:37514 uberon owl:Class N5d86f26ee1784752953cea1db7a8a4e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N47b1c7f9640c40c39252c2d60f481bcc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:356416 biolink:NamedThing 5-ammoniolevulinate The zwitterion formed from 5-aminolevulinic acid by transfer of a proton from the carboxy group to the amino group. It is the major species present at physiological pH. tmpxe7fu0cj_hp_relaxed.owl 5-aminolevulinate|5-ammonio-4-oxopentanoate|5-azaniumyl-4-oxopentanoate|5-ammonio-4-oxovalerate 0 C5H9NO3 InChI=1S/C5H9NO3/c6-3-4(7)1-2-5(8)9/h1-3,6H2,(H,8,9) ZGXJTSGNIOSYLO-UHFFFAOYSA-N 131.12990 131.05824 [NH3+]CC(=O)CCC([O-])=O PMID:14667225 chebi_ontology owl:Class UBERON:0002673 biolink:NamedThing vestibular nuclear complex Nuclear complex containing the vestibular nuclei. tmpxe7fu0cj_hp_relaxed.owl nuclei vestibulares in medulla oblongata|vestibular nuclei in medulla oblongata|vestibular nuclei|nuclei vestibulares|vestibular nucleus BAMS:VNC|BM:Me-VS|MESH:D014726|MBA:701|FMA:72239|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=714|GAID:602|BTO:0004368|BIRNLEX:1337|EV:0100254|BAMS:Ve|UMLS:C0042600|CALOHA:TS-2078|HBA:9697 http://upload.wikimedia.org/wikipedia/commons/5/52/Gray691.png In TA they are grouped in both the pons and medulla; DHBA has 'vestibular nuclei of pons', with LVN and SVN underneath; WP+MA says the SVN is in the pons, and GO includes VNC development under pons development, but this is not supported by ABA. Todo - check with NIF. uberon owl:Class N322191104fe34f37b5ed00d84989985d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9fdee7b4d7ab4a988ad479d7bc271ab0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010349 biolink:NamedThing otic capsule pre-cartilage condensation An otic capsule endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl otic capsule anlage EHDAA2:0000833 uberon owl:Class N3bd41434b0ed4af8bd4047009f00b470 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2c7609f088c542bc91fb0923a6d0f36f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N59af710a348b4d4e9c992048a04af2f6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N55c1a25434654775bf0d81fc085ed6e2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nff4322408bc1411ca12a552b37b401d5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6a9248d2f022425582300c8222828d14 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0ca9f010db4c41249b041f14a97e6e99 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf8ea694ef16d43e8a9c8b6fce77704be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4da7076706854cd2aeba48268a28ba1b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nef21df0e513a4896b19c4907d385c895 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007656 biolink:NamedThing Lacrimal gland aplasia A congenital defect of development characterized by absence of the lacrimal gland. tmpxe7fu0cj_hp_relaxed.owl Absent tear gland UMLS:C4024822 human_phenotype owl:Class N95b115ba8807487b9a418a186522ea26 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5cdac286c2624c188ac74eee0c746169 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4ba6b7901c664b348512e0ad56ea835d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1e1f860ec90d4a7e8140624413687618 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndf070fd6a7fc480ea8c94cc08e942578 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N578571b0313345c0a848170ce06d464a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N739601d5e058493f9fa0e382986ed2a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010213 biolink:NamedThing Contracture of the tarsometatarsal joint of the hallux Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023968 doelkens 2009-06-02T01:45:34Z human_phenotype owl:Class Ne4e8005adb684c9dbe2275fb0de71370 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neb684d56b7e946249ad8f038ebbe6f2b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8850d29c779240b8b5d5eb2d5612ee10 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncb594d7bc85945a48083cbfb60e7da27 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008835 biolink:NamedThing Multicentric femoral head ossification There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1846447 Additionally, the ossification center of the capital femoral epiphysis appears at the end of the first year after birth. This is not what this term refers to. human_phenotype owl:Class Nfecc6878e7924853a83dfbcf122ac880 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N17b264c76e874b79943db5d3c966d3df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0006722 biolink:NamedThing manubrium of malleus The handle of the malleus; the portion that extends downward, inward, and backward from the neck of the malleus; it is embedded throughout its length in the tympanic membrane. tmpxe7fu0cj_hp_relaxed.owl malleus handle|manubrium of malleus|malleus manubrium|manubrium mallei|handle of malleus|malleal manubrium FMA:52760|MA:0002985 uberon owl:Class Conical in shape, with the cone extending inwards (e.g. mammals) or outwards (e.g. in birds) N47108625567842af9b8e2011f03fdc2c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N062c95a3612b431ca831eb1d9162ebdd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5fe0ac1489b6479abd0f9cdb848ab570 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:2000529 biolink:NamedThing positive regulation of myeloid dendritic cell chemotaxis Any process that activates or increases the frequency, rate or extent of myeloid dendritic cell chemotaxis. tmpxe7fu0cj_hp_relaxed.owl ebc 2011-03-23T12:18:45Z biological_process owl:Class UBERON:0002490 biolink:NamedThing frontal suture A suture that connects the two frontal bones of the skull. tmpxe7fu0cj_hp_relaxed.owl median frontal suture|sutura metopica|frontal suture of skull|sutura frontalis|metopic suture MA:0002796|FMA:52989|EMAPA:35358|EMAPA:19226 Frontal:suture.png|http://upload.wikimedia.org/wikipedia/commons/1/17/Gray134.png uberon owl:Class in humans, the frontal suture is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children. It usually disappears by the age of six, with the two halves of the frontal bone being fused together. If it does not disappear it may be called a 'metopic suture' or 'sutura frontalis persistens. ' If the suture is not present at birth (craniosynostosis) it will cause a keel-shaped deformity of the skull called 'trigonocephaly. ' It is present in a fetal skull so that the skull can bend and is very elastic at the time of birth. The baby's head literally bends when coming out of the mother's womb. The space is filled as the child grows older. [WP,unvetted] Nf0e431b57a024f4d988067e111bd8a42 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfd1944a48eb243bab83b992896a9b4d4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N04595191deb441098a782a8fee50cca0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfe5f3cd08d604a3580ce836b3ad8cd26 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd8ca122239074ab4a823047b7337cb97 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1a61b35a15994fc487c833bafade2877 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1c659f63096b4e47aad510f76b7db429 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9b86aab5115945dcb95613e0b52fb8a7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003131 biolink:NamedThing Cystinuria An increased concentration of cystine in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine cystine levels MSH:D003555|SNOMEDCT_US:85020001|UMLS:C0010691 Cystine is a sulfur-containing amino acid. human_phenotype owl:Class N888bd822b17f4407bab5d8d483baa686 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N684469e52c4243b5b1bff88874a57068 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N92e5b287e66c43489c16d2d3e17d6622 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1fd944fb8ad74fdc9db68548027826e1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6ef7e3dba9354433b0c61bd40b5b610b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nac7b043084824bb59b43ea8312a454d6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd0344ac3f79444daa4e11c686ab0184a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009342 biolink:NamedThing Pseudoepiphysis of the distal phalanx of the 3rd finger A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. tmpxe7fu0cj_hp_relaxed.owl Pseudoepiphysis of the outermost bone of the middle finger UMLS:C4024425 doelkens 2009-01-12T11:18:33Z human_phenotype owl:Class N7e4a59331a0e4913a21b667fafdcd997 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nab5c19043ffd4aaaaf0cda814f192f3c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1d41762c6e5f48dd8ba08e3f91e26cab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N56640d91b6424e99982655f4dfac9766 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004905 biolink:NamedThing articulation Anatomical cluster that connects two or more adjacent skeletal elements or hardened body parts. tmpxe7fu0cj_hp_relaxed.owl joint FBbt:00005811 uberon owl:Class HP:0000287 biolink:NamedThing Increased facial adipose tissue An increased amount of subcutaneous fat tissue in the face. tmpxe7fu0cj_hp_relaxed.owl Increased amount of facial adipose tissue|Increased amount of facial fat|Hypertrophy of facial adipose tissue|Facial fat hyperplasia|Increased volume of facial adipose tissue|Facial fat hypertrophy|Hyperplasia of facial adipose tissue UMLS:C4280649|UMLS:C4025868|UMLS:C4280650 human_phenotype owl:Class N5e53eb28e73646c68c1572dfdca23d06 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9deffbe5bc354d0ea6d8d090f8c8ee81 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0044566 biolink:NamedThing chondrocyte activation A change in the morphology or behavior of a chondrocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. A chondrocyte is a polymorphic cell that forms cartilage. tmpxe7fu0cj_hp_relaxed.owl jl 2012-04-05T04:45:38Z biological_process owl:Class CL:0002434 biolink:NamedThing CD24-positive, CD8 single-positive thymocyte A CD8-positive, CD4-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor. tmpxe7fu0cj_hp_relaxed.owl CD24-positive, CD8 single-positive semimature thymocyte|T.8SP24int.Th Described in the immgene database as being CD24-intermediate. tmeehan 2010-10-21T02:59:10Z cell owl:Class HP:0000734 biolink:NamedThing Disinhibition A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment. tmpxe7fu0cj_hp_relaxed.owl Disinhibition UMLS:C0424296|SNOMEDCT_US:247977003 Disinhibition affects motor, instinctual, emotional, cognitive and perceptual aspects with signs and symptoms similar to the diagnostic criteria for mania. Hypersexuality, hyperphagia, and aggressive outbursts are indicative of disinhibited instinctual drives. owl:Class Nd93857ad6aa8489b80020423ea346bfe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N09bca8eacb8c496bad80e181bb59345d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N241ce480de814c0b81c4285341babab2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4e92f1ccf8d74037a0a54d4e2059ad28 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5a6f5e7ccc404721a510db93764db4f7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N72a1e1f91626495eb50e346912d89b0a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9a3f8a3dbb644515b489f5939b26f075 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005665 biolink:NamedThing Massively thickened long bone cortices Extreme thickening of the cortex of long bones. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025160 human_phenotype owl:Class N6ad1dad671b0463b9ffc6a507f09c871 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nddbdbfb7844c419384d2e8e9d6af8ce8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1e4dd40889724a78a0ccfdc025a914c3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc10fea98398a44419251899091ae0b19 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012731 biolink:NamedThing Ectopic anterior pituitary gland Abnormal anatomic location of the anterior pituitary gland. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022751 peter 2014-03-23T02:41:41Z HP:0011765 human_phenotype owl:Class N6691c6f603674132b78fb329bbcd38ab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbe2b9fcafab343d599878b733d3162e4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N158013adaa3b41b09c9a0f264d0f7213 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N200e328cebf44dc99d299229286feb1d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:83038 biolink:NamedThing Daphnia galeata metabolite A Daphnia metabolite produced by the species Daphnia galeata. tmpxe7fu0cj_hp_relaxed.owl Daphnia galeata metabolites chebi_ontology owl:Class UBERON:0006936 biolink:NamedThing thymus subcapsular epithelium The epithelial cells lining the capsule and trabeculae of the thymus. tmpxe7fu0cj_hp_relaxed.owl MA:0000769 TODO - check whether this is part of the thymus or borders it uberon owl:Class HP:0020128 biolink:NamedThing Aplasia of the olfactory tract Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-05 15:49:35+00:00 owl:Class Ncbca9d04b65d43e682d333e3f01ebaa7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0022278 biolink:NamedThing nucleus of pudendal nerve A nucleus in the ventral part of the anterior horn of the sacral region of the spinal cord that is the origin of the pudendal nerve. tmpxe7fu0cj_hp_relaxed.owl Onuf's nucleus|pudendal neural nucleus|nucleus of Onuf FMA:257031|FMA:77024 uberon owl:Class involved in the maintenance of micturition and defecatory continence, as well as muscular contraction during orgasm. The neurons in Onuf's nucleus are motoneurons, and like most motoneurons they are characterized by their mulipolarity and large Nissl bodies Na76e2f527b7948609c40283aa1649b93 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbb2e8a13e1d3429798cd8f23f4cad975 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:78444 biolink:NamedThing EC 3.1.1.1 (carboxylesterase) inhibitor Any EC 3.1.1.* (carboxylic ester hydrolase) inhibitor that inhibits the action of carboxylesterase (EC 3.1.1.1 ). tmpxe7fu0cj_hp_relaxed.owl esterase A inhibitor|butyrate esterase inhibitor|esterase D inhibitor|carboxylic acid esterase inhibitors|butyryl esterase inhibitor|EC 3.1.1.1 (carboxylesterase) inhibitors|esterase D inhibitors|methylbutyrase inhibitor|procaine esterase inhibitor|vitamin A esterase inhibitors|propionyl esterase inhibitors|procaine esterase inhibitors|cocaine esterase inhibitors|methylbutyrate esterase inhibitors|carboxyl ester hydrolase inhibitor|cocaine esterase inhibitor|methylbutyrase inhibitors|propionyl esterase inhibitor|Alpha-carboxylesterase inhibitor|carboxylesterase inhibitors|serine esterase inhibitor|carboxyl ester hydrolase inhibitors|Beta-esterase inhibitor|nonspecific carboxylesterase inhibitors|monobutyrase inhibitors|carboxylic acid esterase inhibitor|esterase A inhibitors|carboxylate esterase inhibitors|triacetin esterase inhibitor|carboxylic esterase inhibitor|carboxylic-ester hydrolase inhibitors|nonspecific carboxylesterase inhibitor|monobutyrase inhibitor|esterase B inhibitor|serine esterase inhibitors|vitamin A esterase inhibitor|carboxylic esterase inhibitors|carboxylesterase inhibitor|butyryl esterase inhibitors|Alpha-carboxylesterase inhibitors|ali-esterase inhibitors|Beta-esterase inhibitors|butyrate esterase inhibitors|carboxylic-ester hydrolase inhibitor|ali-esterase inhibitor|methylbutyrate esterase inhibitor|triacetin esterase inhibitors|esterase B inhibitors|carboxylate esterase inhibitor chebi_ontology owl:Class Ncd1074aaefd44fe680739af1a345c4f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Necd00f13b16b448ba19e156454dd13e4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N54804d6ad6fa405f870473c75c688764 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8484877bbd9740a3b15c836888f119a2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100357 biolink:NamedThing Contracture of the metatarsophalangeal joint of the 3rd toe The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022128 owl:Class Nce4b1ea52bf9401c88cf5eb381d1fd16 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na4a2cec8c9344f62a777df74a96de6f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8012f3245b0541daaa0130e7d65a1aa4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6cc80043f42f44d6b68504cff9b980c9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:2000252 biolink:NamedThing negative regulation of feeding behavior Any process that stops, prevents or reduces the frequency, rate or extent of feeding behavior. tmpxe7fu0cj_hp_relaxed.owl negative regulation of drinking|negative regulation of eating|negative regulation of feeding behaviour|negative regulation of behavioural response to food|negative regulation of behavioral response to food yaf 2010-11-18T11:24:14Z biological_process owl:Class N4bc07de9b9734a25ba8fcc015e017aed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0014016 biolink:NamedThing neuroblast differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuroblast. There are at least four stages through which the pluripotent cells of epiblast or blastula become neuroblasts. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N220334e0d3cb4979abe20a9e51b5dc7d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3f1e3a602d6f4720baa00967c1339c54 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012069 biolink:NamedThing Keratan sulfate excretion in urine An increased concentration of keratan sulfate in the urine. tmpxe7fu0cj_hp_relaxed.owl Keratan sulphate excretion in urine UMLS:C4023060 Keratan sulfate is a a glycosaminoglycan. hecht 2012-08-04T03:20:15Z human_phenotype owl:Class N3b0be50a2e4441a3b05ecef72d375a2e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbe9f966585c54e938860854433b1aae8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003393 biolink:NamedThing mesentery of urinary system A mesentery that is part of a urinary system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mesentery of systema urinaria|mesentery of renal system|mesentery of excretory system|urinary system mesentery|excretory system mesentery|renal system mesentery|systema urinaria mesentery MA:0003233|EMAPA:17367 uberon owl:Class HP:0006185 biolink:NamedThing Enlarged proximal interphalangeal joints tmpxe7fu0cj_hp_relaxed.owl Enlarged innermost hinge joint UMLS:C1861350 human_phenotype owl:Class N550b3184e5c84f2da3487d72656febf0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1a48de7ae64244fa91a7784e73660c2f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne2372b06ca0f46b7b3b5f21ec385b9a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6fe7d81d177d4c45b617f8bce3abf942 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005132 biolink:NamedThing Pericardial constriction Compression of the heart caused by rigid, thickened, or fused pericardial membranes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0240709 owl:Class N838dc4814d7b4196a5d3c6869ba55f1c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015918 biolink:NamedThing deep lymph node A lymph node that is located deeper within the organism, further from the surface. tmpxe7fu0cj_hp_relaxed.owl FMA:12768 uberon owl:Class N2cdad3855e874cafb51c07e76a30a0d4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nadc53468b3c045b497d54e06ee52360f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035237 biolink:NamedThing branch of internal carotid artery tmpxe7fu0cj_hp_relaxed.owl subdivision of internal carotid artery|internal carotid arterial subdivision FMA:70506|SCTID:360629008|NCIT:C32837|UMLS:C1182571 uberon owl:Class GO:0097447 biolink:NamedThing dendritic tree The entire complement of dendrites for a neuron, consisting of each primary dendrite and all its branches. tmpxe7fu0cj_hp_relaxed.owl NIF_Subcellular:sao172297168 pr 2012-12-17T12:31:49Z cellular_component owl:Class Nf16dbb80987e44ae98698cbbcd6b327b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N99c5c918e6014d188da7a73b76648ee0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N506d288e6b7347068176ad2f425be6aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na4686f95843348ad895578020074bf94 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9a18792dfbe54e1cad8637e4dbd27056 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011977 biolink:NamedThing Elevated urinary homovanillic acid An increased concentration of homovanillic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urinary homovanillic acid UMLS:C4020736 Homovanillic acid is the main metabolite produced from dopamine degradation by the action of monoamine oxidase. Increased levels of catecholamines or catecholamine metabolites, including dopamine, homovanillic acid (HVA) and/or vanillylmandelic acid (VMA), can be detected in the urine of 90% of all patients with neuroblastoma. peter 2012-07-18T09:10:06Z owl:Class N942127f47b6d49b1ab04106f16e00d5d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:62978 biolink:NamedThing 4-hydroxyprolinate The alpha-amino-acid anion formed by loss of a proton from the carboxy group of 4-hydroxyproline. tmpxe7fu0cj_hp_relaxed.owl hydroxyprolinate|4-hydroxyproline anion|hydroxyproline anion|4-hydroxypyrrolidine-2-carboxylate -1 C5H8NO3 InChI=1S/C5H9NO3/c7-3-1-4(5(8)9)6-2-3/h3-4,6-7H,1-2H2,(H,8,9)/p-1 PMMYEEVYMWASQN-UHFFFAOYSA-M 130.12190 130.05097 OC1CNC(C1)C([O-])=O chebi_ontology owl:Class N3f28e4bc733d44f4b69f9e462c5c8d76 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0041077 biolink:NamedThing Increased immunoglobulin level in body fluid An elevation from normal levels of immunoglobulins in body fluids, such as mucous. tmpxe7fu0cj_hp_relaxed.owl owl:Class Na785c8701d404361ab80775efbc39e82 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:3000070 biolink:NamedThing Abnormality of levator anguli oris An abnormality of a levator anguli oris. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073277 vasilevs 2015-08-07T03:38:48Z human_phenotype owl:Class N2501d8a69804413c81b7530acaa7ecb5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010814 biolink:NamedThing Abnormal position of hair whorl Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull. tmpxe7fu0cj_hp_relaxed.owl Abnormal location of hair swirl|Abnormal position of hair whorl UMLS:C4023694 Placement of hair whorl should be described as parietal, vertex, eccentric, etc. In addition, the number of hair whorls should be noted. Five percent of the population has two whorls. peter 2010-07-05T11:13:42Z human_phenotype owl:Class Nd5da66d6dbb94800abd7169b8d8df6a5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N977fddffe9d04f12893ad34e7d4e8ab3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008420 biolink:NamedThing Punctate vertebral calcifications The presence of punctiform calcification of the bone of the vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024678 human_phenotype owl:Class N4904b694eb3f4138b296f3c3ff07a99f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5bdc18e996e346999c869c411aabe3a4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005327 biolink:NamedThing mesonephric glomerular epithelium A mesonephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the mesonephros[GO]. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0012648 biolink:NamedThing Decreased inflammatory response An abnormal reduction in the inflammatory response to injury or infection. tmpxe7fu0cj_hp_relaxed.owl Decreased inflammatory response UMLS:C4022804 peter 2014-02-01T01:29:24Z human_phenotype owl:Class Ne8f7b8b15cb34631b4a01501e4da5816 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5e555835fc904b50824980811f7a1b6a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:64558 biolink:NamedThing methionine zwitterion An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of methionine; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl 2-ammonio-4-(methylsulfanyl)butanoate|2-azaniumyl-4-(methylsulfanyl)butanoate|methionine 0 C5H11NO2S InChI=1S/C5H11NO2S/c1-9-3-2-4(6)5(7)8/h4H,2-3,6H2,1H3,(H,7,8) FFEARJCKVFRZRR-UHFFFAOYSA-N 149.21100 149.05105 CSCCC([NH3+])C([O-])=O chebi_ontology owl:Class N811656c7d14c4d6cb47c29e7e2addc92 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N40f3842a22004f8686b6dbb5afda9115 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0f4213f8d923408c81983247befdc5cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0025538 biolink:NamedThing Palmar edema An abnormal accumulation of fluid beneath the skin on the palm of the hand. tmpxe7fu0cj_hp_relaxed.owl Palmar oedema 2017-05-18 01:30:09+00:00 HPO:probinson owl:Class N094936e563f64c8482f1318d53b48315 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9f8588caa84a4fd59e8939637ed770be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:7500045 biolink:NamedThing line of medial condyle of femur to greater trochanter An anatomical line of a femur that connects the medial condyle to the greater trochanter. tmpxe7fu0cj_hp_relaxed.owl https://orcid.org/0000-0003-2699-3066 uberon owl:Class N36356aa4d73440a3af6f6a447f935202 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbdcf4eb24c92483bb1cb92afc0c2d4d6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002831 biolink:NamedThing Long coccyx tmpxe7fu0cj_hp_relaxed.owl Long tailbone UMLS:C3277116 human_phenotype owl:Class N08a2f5403fda4174b3665f4e1fead3ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4e090b497c4d435db38430156f39f3c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N396509d8d7ea4a8a9928a43b471741e5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N74c36765e2cb46538f63b53339bc49ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N844da0340d194ec7888124530ca0f1e1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:50337 biolink:NamedThing 1H-indol-3-ylmethyl group tmpxe7fu0cj_hp_relaxed.owl 1H-indol-3-ylmethyl|tryptophan side-chain 0 C9H8N 130.16656 130.06567 N1C=C(C=2C=CC=CC12)C* chebi_ontology owl:Class N21fe91e7f14c4c0daa0069d8162318d2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na34c1c931e444b80977cbeef339ea6f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009820 biolink:NamedThing Lower limb peromelia Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024196 doelkens 2009-02-23T05:11:07Z human_phenotype owl:Class N2c1145e54af2440a8597832b9ba68eb2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000848 biolink:NamedThing Increased circulating renin level An increased level of renin in the blood. tmpxe7fu0cj_hp_relaxed.owl Hyperreninemia|Elevated blood renin level|Elevated plasma renin|Increased plasma renin|Increased serum renin UMLS:C0240783 HP:0003615 human_phenotype owl:Class N4629d968ca4c485b918356e28aa3b24a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf3dc2e9f5261492aa248ea291d88bf38 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000954 biolink:NamedThing Single transverse palmar crease The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. tmpxe7fu0cj_hp_relaxed.owl Single transverse palmar creases|Single palmar creases|Simian crease|Transverse palmar crease|Single flexion crease|Simian line|Simian creases|Single palmar crease SNOMEDCT_US:248409006|UMLS:C0424731 The presence of a single palmar crease (instead of the two palmar creases that are typically present). HP:0006214 human_phenotype owl:Class N37759602fcf74b26842653b438013a4f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N709319ff225a4aaaad920dc985f070af biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N09a229e7435c42829efdfe40428e704e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbbb835ee745145c8b10ffddf010c4889 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6a8c4af1707a4f49bb35596086799abe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne22659b3250348efaa03bf8a512cf635 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005093 biolink:NamedThing Absent proximal radial epiphyses Absence of the proximal radial epiphysis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855301 human_phenotype owl:Class Ncb13364f9b654200abbd9f5bdeba66e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0f8969ea69ca49449e57e576c0f79413 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc83a9f2f10854dddb88022ea8ccaf914 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N903dbd9bd1534478980d11784c3e4b3e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N19a205236cf64fad8b245f3a94f7515b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd3e8e84b84d74d75ba99365f064d7610 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfee86a1e0b654d66bc92839e9b5a739b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc20818e13cd24de99575845a7a1509cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne2ad03d941e54a6aa91f5978bbc3cb63 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N889200e664864048a5c414e079b65cb9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf548444530404261a5b52ffeef0fa3e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na55e925b9dca4d8f89832214bcfd0cc1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc9f42525cc0f45ac88ae23d6f54224fe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4d8cac816bc240a9a4b6e2b29815ffe5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2e3f8eba22df45f9b23aeb8e52618e5d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010362 biolink:NamedThing Curved 3rd toe phalanx A deviation from the normal straight form of one or more phalanges of the third toe. tmpxe7fu0cj_hp_relaxed.owl Curved phalanges of the 3rd toe|Curved bones of 3rd toe UMLS:C4021284 doelkens 2009-07-16T11:51:17Z human_phenotype owl:Class N90d0ea69242c408e915655b26ff0e391 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N002df281c5764316ba27d7c7c3ee062e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neba9429f6cf5491189c2230bdb8ef240 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne0990c8f54e84a4694a342dec5c8ebf7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002180 biolink:NamedThing Neurodegeneration Progressive loss of neural cells and tissue. tmpxe7fu0cj_hp_relaxed.owl Neurodegenerative disease|Ongoing loss of nerve cells|Neuro-degenerative disease|Progressive neurodegenerative disorder UMLS:C0524851|MSH:D009410|MSH:D019636|UMLS:C4020854|UMLS:C0027746 owl:Class N7c3ffb9bd9fc495e9b27290ebad01d2a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7b802ae6c2654dd2b7fb69f15914b881 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0636474594864e3b8ea424bf83b90145 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0cafff509e10477eb7b0a2343b48ddb3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0016531 biolink:NamedThing white matter of parietal lobe A white matter of cerebral lobe that is part of a parietal lobe. tmpxe7fu0cj_hp_relaxed.owl FMA:256184 uberon owl:Class N5651edc6fbdd48bcae2e4f6b4076f892 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfea4afa6bb3b44158ffc076f2c2d23cf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:59174 biolink:NamedThing hapten Any substance capable of eliciting an immune response only when attached to a large carrier such as a protein. Examples include dinitrophenols; oligosaccharides; peptides; and heavy metals. tmpxe7fu0cj_hp_relaxed.owl haptens PMID:3782019|PMID:19101624|PMID:17875790|PMID:291959|PMID:17986299 chebi_ontology owl:Class N51c9819ce4b34f17b44d095a0f2b0297 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4587d27c49364855bf140fd37b9c3395 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9fb9e8045e5444aa9c962f1e60c4e0e1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N68f7d92485594f24963d58fb98949afe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3accf6eba90843ada94103424a2c0136 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N74e260d8585748ec972d6245c591a51e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N435eeb5712634033a694d47ad1524d09 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N03307c071df84cb09c7bc5d45e873c38 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na0e55350a3344e23ac5c179a6c8d7e2d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003609 biolink:NamedThing aorta elastic tissue The dense connective tissue which contains predominantly elastic fibers and is found in the tunica media of the aorta wall. tmpxe7fu0cj_hp_relaxed.owl adult aorta textus connectivus elasticus|elastic connective tissue of trunk of aortic tree|trunk of aortic tree elastic connective tissue|elastic tissue of trunk of aortic tree|elastic tissue of aorta|dorsal aorta elastic connective tissue|elastic connective tissue of aorta|elastic tissue of dorsal aorta|textus connectivus elasticus of dorsal aorta|textus connectivus elasticus of trunk of aortic tree|trunk of aortic tree elastic tissue|elastic tissue of adult aorta|aorta elastic connective tissue|dorsal aorta elastic tissue|textus connectivus elasticus of adult aorta|elastic connective tissue of adult aorta|aorta elastic lamina|trunk of aortic tree textus connectivus elasticus|dorsal aorta textus connectivus elasticus|elastic connective tissue of dorsal aorta|adult aorta elastic connective tissue|adult aorta elastic tissue|aorta elastic laminae|aorta textus connectivus elasticus|textus connectivus elasticus of aorta MA:0002859 uberon owl:Class N61a434efacc947049d8036110154600e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035956 biolink:NamedThing epididymal lumen The lumen of the epididymis. tmpxe7fu0cj_hp_relaxed.owl lumen of epididymis|epididymis lumen FMA:18274 uberon owl:Class HP:0010958 biolink:NamedThing Bilateral renal agenesis A bilateral form of agenesis of the kidney. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1609433|MSH:C536482|SNOMEDCT_US:41962002 peter 2011-01-18T11:42:58Z human_phenotype owl:Class N533bbdd70cd4431a9bc258584fa18f9d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N856f84bd58dd4334a0a2599f3202353e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N955a76e5069c463eb77b24306f0651bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N59a175c87f434504bb0a48c420f40d1f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040219 biolink:NamedThing Absent natural killer cells Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis. tmpxe7fu0cj_hp_relaxed.owl Absent NK cells UMLS:C4073163 owl:Class N931dd3b719fe4f1c84aa5b5437d04751 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5fb750a08282475ea4dbdd08e2c4a777 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9d7ac327af4548f0929f950672fbe647 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6ae2095f719648d78e96e970b2c866ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naada35d5f3ee4f098ed3a05bf8a23b81 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001783 biolink:NamedThing optic disc The optic disc or optic nerve head is the location where ganglion cell axons exit the eye to form the optic nerve. There are no light sensitive rods or cones to respond to a light stimulus at this point. This causes a break in the visual field called 'the blind spot' or the 'physiological blind spot'. The optic nerve head in a normal human eye carries from 1 to 1.2 million neurons from the eye towards the brain. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl optic disk|physiologic blind spot of mariotte|physiologic blind spot|optic nerve disc|optic papilla|optic nerve head EFO:0001974|EMAPA:18238|MA:0000278|EHDAA:9077|MESH:D009898|EHDAA2:0001307|FMA:58634|VHOG:0000551|CALOHA:TS-2153|NCIT:C12760|UMLS:C0029127 http://upload.wikimedia.org/wikipedia/commons/e/ed/Gray879.png uberon owl:Class The small blind spot on the surface of the retina. It is the point where the fibers of the retina leave the eye and become part of the optic nerve. [TFD][VHOG] (...) we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya (reference 1); Although the eye varies greatly in adaptative details among vertebrates, its basic structure is the same in all. The human eye is representative of the design typical for a tetrapod (reference 2).[well established][VHOG] N8c43b49d6af14fc3a25057a7684cc167 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N219e7e44fe7440279965d24d322ee43c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N712d52aedf074789816b500574867326 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0bf3047310a74bf3b45d272aaca37676 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1412b730769b4799ac7caac48bc87150 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nba19856383e7415c9fc7e1d888465d6b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4ac2a1272e894ff7aee800796cd046a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N66a9be7d1e0f4688ba3ac4791f9dcdff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0005677 biolink:NamedThing chromatin silencing complex Any protein complex that mediates changes in chromatin structure that result in transcriptional silencing. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0005929 biolink:NamedThing Synostosis involving the tibia tmpxe7fu0cj_hp_relaxed.owl Bone fusion involving the shinbone UMLS:C4025103 peter 2008-03-27T02:34:00Z human_phenotype owl:Class N802bbd0004d142a886d81ec1f17d2c85 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N50ea98f1889a4d569fd5abd31e6fcbac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndb8d94dd0bc04a318a81c9afe45afb4b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0e2b7169cdb64d4ba8ff0a87146fde68 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0fe77bc48bea49d28db0d4c2d4dca4b0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003088 biolink:NamedThing Premature osteoarthritis tmpxe7fu0cj_hp_relaxed.owl Premature arthritis|Premature osteoarthritis UMLS:C1835121 human_phenotype owl:Class Nc02d1f2323354ade89c402230b9bded8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:27247 biolink:NamedThing urocanate An monocarboxylic acid anion that is the conjugate base of urocanic acid. tmpxe7fu0cj_hp_relaxed.owl urocanate|3-(1H-imidazol-4-yl)prop-2-enoate -1 C6H5N2O2 InChI=1S/C6H6N2O2/c9-6(10)2-1-5-3-7-4-8-5/h1-4H,(H,7,8)(H,9,10)/p-1 LOIYMIARKYCTBW-UHFFFAOYSA-M 137.11618 137.03565 [H]C(=C([H])c1c[nH]cn1)C([O-])=O KEGG:C00785|MetaCyc:UROCANATE|ECMDB:ECMDB21396 chebi_ontology owl:Class N07f58c50d0494f609b352e7588f64303 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006176 biolink:NamedThing Two carpal ossification centers present at birth tmpxe7fu0cj_hp_relaxed.owl Two carpal ossification centres present at birth UMLS:C1839285 human_phenotype owl:Class N119e8e6053964842942fe748fff1b63a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009626 biolink:NamedThing Contractures of the interphalangeal joint of the thumb Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis. tmpxe7fu0cj_hp_relaxed.owl Interphalangeal extension contractures of thumbs UMLS:C2108146 doelkens 2009-01-29T04:52:18Z HP:0005697 human_phenotype owl:Class Nda68c17f69fd4ad78e7f32614ce5b2f4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6f4e0022aef84610ba1b5f32e38acee3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfdfeafdfdda149fe8dc373c2afd1fec2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4d8675432eb8450eba51ae19a555c270 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0f9ccd9affce45d6be639b0cf65cd869 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003283 biolink:NamedThing atrial septum development The progression of the atrial septum over time, from its initial formation to the mature structure. tmpxe7fu0cj_hp_relaxed.owl dph 2009-10-20T10:10:38Z biological_process owl:Class UBERON:3000982 biolink:NamedThing tail external integument structure Dermal, epidermal, glandular and pigment structures of the tail integument. tmpxe7fu0cj_hp_relaxed.owl amphibian_anatomy_curators uberon owl:Class This class was sourced from an external ontology (amphibian_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon N65c704d0d81843849936c1b0614423e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N35330894cda84f7aa609e7e9358ba161 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N04b2c75cab774e67b357684740ff9c2d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010575 biolink:NamedThing Dysplasia of the femoral head The presence of developmental dysplasia of the femoral head. tmpxe7fu0cj_hp_relaxed.owl Abnormality of femoral head development|Dysplastic femoral head UMLS:C4280377|UMLS:C4021251 sandra1 2009-10-21T01:30:40Z human_phenotype owl:Class N649355cd77c545359a720e1057024f91 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N36d38397abb847e09777bc22af4e9bbd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2e37b6e0102342f08cfa4464ee6d138a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0025261 biolink:NamedThing thalamic fiber tract tmpxe7fu0cj_hp_relaxed.owl thalamic fiber tracts BIRNLEX:749 uberon owl:Class Nb466e93898d045cf92a782d035d8c8d4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N92c062e6527e40c3b2deee8faed02fb5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N55e3a9081c8a4e018fec180c52bd96c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008724 biolink:NamedThing Hypoplasia of the ovary Developmental hypoplasia of the ovary. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped ovary|Hypoplastic ovary UMLS:C0685840|UMLS:C1835452|SNOMEDCT_US:93279005 human_phenotype owl:Class Ndca7c8f64c6542b3bc6ed5f0f36bf518 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N12813c1d37de4b569d61dfff3126194c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N79a95bf714794ce398eb5772303eed81 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd92273b779dc410e9ed2af9d52d853ae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N97ac3194192041b49b75b2d177783a5e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc23154203e5b4e57b59c421634a0bc6c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011864 biolink:NamedThing Elevated plasma pyrophosphate An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023157 peter 2012-05-28T06:05:24Z human_phenotype owl:Class N78aff63af3f24aab986d8c1fe2e77802 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009185 biolink:NamedThing Contracture of the proximal interphalangeal joint of the 5th finger Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3554612 peter 2008-12-29T04:16:58Z HP:0005047|HP:0006062 human_phenotype owl:Class Nfe1619d4313b4660b9575e6dfb677015 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0008017 biolink:NamedThing microtubule binding Binding to a microtubule, a filament composed of tubulin monomers. tmpxe7fu0cj_hp_relaxed.owl microtubule severing activity|microtubule/chromatin interaction Reactome:R-HSA-9614343 molecular_function owl:Class CL:0002022 biolink:NamedThing Ly-76 high positive erythrocyte An enucleate erythrocyte that is Lyg-76-high. tmpxe7fu0cj_hp_relaxed.owl Marker is associated with mouse cell types. tmeehan 2010-04-26T11:51:27Z cell owl:Class N2525bacd8c874de5b9570d57d848680a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N39124dcab91343888dc93e90f9500985 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6fc303b2465b4a228c4b238aed493f44 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6c04b8c577e9415ea63dde700d36a223 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2e51c35b18534597826ba3bcd0cf4746 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9826085cf28549578f07142818aebbe4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1f64fa1c8bad41d29203e4601cff9d03 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0025030 biolink:NamedThing Enteric neuronal degeneration Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons. tmpxe7fu0cj_hp_relaxed.owl Degenerative enteric neuropathy 2016-08-27 11:43:00+00:00 HPO:probinson owl:Class N16b55e195b704dec8ca853b23d1cce11 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N00ad3be14a784b8cbcd5c3ba4f967fc2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000335 biolink:NamedThing mesenchyme condensation cell A mesenchymal cell in embryonic development found in a contracting mass and that gives rise to osteoprogenitors. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class Nbb5b386ace324a69b02a7795f4bf92da biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011268 biolink:NamedThing Absent tragus Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023439 This appears to be unusual in an otherwise normal ear, and is most often seen in microtia with atretic auditory meatus, but those findings should be coded separately. peter 2011-12-18T07:55:39Z human_phenotype owl:Class Nc05b00d10fd04e19831339560a1b7de3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N80917417fdc348ca8d5f408b9f10882f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncc8b62ba692340599b2eab44422e0733 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd1ff9231138544219099a40dbb5d0a4a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N21749b91079941f88d5e50ff21c5477c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4f86fb2d6afe4d399222a4aabe1ab1be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1c9fc0ed492e4883bdebdbdf5418df7c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:43799 biolink:NamedThing butan-1-amine A primary aliphatic amine that is butane substituted by an amino group at position 1. tmpxe7fu0cj_hp_relaxed.owl BUTYLAMINE|butan-1-amine|butylamine|1-aminobutane|1-butanamine|1-butylamine|n-C4H9NH2|1-Aminobutan|mono-n-butylamine|n-Butylamin|n-butylamine|butanamine|monobutylamine 0 C4H11N InChI=1S/C4H11N/c1-2-3-4-5/h2-5H2,1H3 HQABUPZFAYXKJW-UHFFFAOYSA-N 73.13680 73.08915 CCCCN Gmelin:1784|PMID:23470444|PMID:23734590|Beilstein:605269|DrugBank:DB03659|Wikipedia:N-Butylamine|PMID:16387436|CAS:109-73-9|Reaxys:605269|MetaCyc:BUTYLAMINE|PDBeChem:LYT chebi_ontology owl:Class N11cb913e090f4be7b4279782c62fa339 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd31a2ab0a635431fbb85a86af794782d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N77a2efa11b694722ade7125a00898a5c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0045011 biolink:NamedThing Decreased urine bicarbonate concentration Abnormally decreased concentration of hydrogencarbonate in the urine. tmpxe7fu0cj_hp_relaxed.owl Decreased urine HCO3 concentration UMLS:C4022399 HPO:skoehler owl:Class N7ee6da2917704849b34674a78e3f326f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001876 biolink:NamedThing Pancytopenia An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). tmpxe7fu0cj_hp_relaxed.owl Pancytopaenia|Low blood cell count MSH:D010198|SNOMEDCT_US:127034005|UMLS:C0030312 owl:Class N17834a0772eb462c8de955bece422f93 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8f774bbfaa28435483248de96949bb00 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbbd50a1e18da4a75b0ed6c839fa85a55 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc2553505c41142ac8a9a109b308cd6c9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011697 biolink:NamedThing right extraembryonic umbilical artery tmpxe7fu0cj_hp_relaxed.owl extraembryonic umbilical artery right EHDAA2:0001721 uberon owl:Class Nb37ddf7bffbe4b8484a3dfdb20ef8138 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0025463 biolink:NamedThing Abnormality of redox activity An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions. tmpxe7fu0cj_hp_relaxed.owl 2017-05-07 11:17:15+00:00 HPO:probinson owl:Class N47f3a46ba1584f0aa48e3df707dcff0b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne8693734e8fb46848e7ff8db467c32b0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0007097 biolink:NamedThing nuclear migration The directed movement of the nucleus to a specific location within a cell. tmpxe7fu0cj_hp_relaxed.owl establishment of cell nucleus localization|positioning of nucleus|establishment of position of nucleus|establishment of nucleus localization|establishment of localization of nucleus|nucleus positioning|nucleus migration|nuclear movement|establishment of nucleus localisation|nuclear positioning GO:0040023 biological_process owl:Class Neeef9cb740f048708d842e850d6c68c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2c8ceddb01ae45ef9c0bc14f2240eeb1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nad042cfef7bd4119b8194561e92132d1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N92b72a0a26604bd8a191ef1d1f892306 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6738b40134984bda84185b2cc9c6f3ca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf9e2b2ed2af54cff92e2684c99a2a41f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012504 biolink:NamedThing adventitia of esophagus An adventitia that is part of a esophagus. tmpxe7fu0cj_hp_relaxed.owl adventitia of oesophagus|tunica adventitia (esophagus)|esophagus adventitia|adventitious layer of esophagus|esophageal adventitia|tunica adventitia oesophageae FMA:63006|SCTID:85950006 uberon owl:Class N9d1ec16b07a94cd293364816b8628f4a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5c7ad91bb4b74ac4b369c2214e798153 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nebda863ca1dc4468bdefb85a18d782ca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naab8883b5ae74e0190dd4fa9461e6ece biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf07e57ea3e54448a98f9bb53ce57a02d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N267833962d214a6c96a204622ac77335 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd3f5ecbfd6d74cf1b6d627829f5ebad7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nad4d8cfc5e6e4759b9d55274ffe3b2da biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5192c823c8a84db8b3cc4af2f5b86618 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009479 biolink:NamedThing ectoderm of buccopharyngeal membrane An ectoderm that is part of a buccopharyngeal membrane. tmpxe7fu0cj_hp_relaxed.owl EMAPA:16260|EHDAA2:0000190 uberon owl:Class N21f90338c5444fe38b1863d45ae0991c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4b3178548b5d4b15af36ddd27c5e96aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na5d281ebcbff46348bcd730575849924 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9df6c8da52284ae39f92dc5ef502238b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0400005 biolink:NamedThing Short ear Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. tmpxe7fu0cj_hp_relaxed.owl Short ears|Short ear UMLS:C3551041 The commonly used term Microtia is a bundled term comprising decreased length and width (surface area). owl:Class Nc9d94cfb2c54455a826f7535e1ee8efe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N637b8a6972e64e669680d0e17766fcf9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005242 biolink:NamedThing Extrahepatic biliary duct atresia Atresia in the extrahepatic bile duct. tmpxe7fu0cj_hp_relaxed.owl Biliary atresia, extrahepatic SNOMEDCT_US:82821008|UMLS:C0005411|MSH:D001656|SNOMEDCT_US:77480004 HP:0006553 human_phenotype owl:Class Nc688738e70fd489f8fcf3dda299ef4a1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7000a651cf2848d2a6321b22a74813b6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na7b158c1551a4a5dbbda072afa2fcc01 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9e687ec2f3cd41029e845450a0b44889 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N232fa0e6f71f4843860ee15ffe12422f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4339bdb84b4844b9a53f75b4e605600d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndc3c6641361d4c5da4ee63f751a51ed1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0032045 biolink:NamedThing Hypoplastic carotid canal Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 10:47:06+00:00 peter owl:Class Nd32c7d78f26b4081acc016a4cec5d1a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008255 biolink:NamedThing right clavicle A clavicle that is in the right side of a entire appendicular skeleton. tmpxe7fu0cj_hp_relaxed.owl FMA:13322 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern N65e6f9cbead4487abcff4a82618663f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:48300 biolink:NamedThing D-threitol The D-enantiomer of threitol. tmpxe7fu0cj_hp_relaxed.owl D-threo-tetritol|D-threitol|(2R,3R)-butane-1,2,3,4-tetrol 0 C4H10O4 InChI=1S/C4H10O4/c5-1-3(7)4(8)2-6/h3-8H,1-2H2/t3-,4-/m1/s1 UNXHWFMMPAWVPI-QWWZWVQMSA-N 122.11980 122.05791 OC[C@@H](O)[C@H](O)CO Reaxys:1719752|PMID:1596913|PMID:25108762|CAS:2418-52-2|PMID:16901854|HMDB:HMDB0004136|PMID:6368527|MetaCyc:CPD-12825|KEGG:C16884|PMID:22735334|PMID:18863753|Gmelin:1782960|PMID:17577890|DrugBank:DB03278|PMID:24643482|Beilstein:1719752|Beilstein:5725952|PMID:17979222|Wikipedia:Threitol|PMID:16748290|PMID:5855592|PMID:908147|CAS:7493-90-5|PDBeChem:DTL chebi_ontology owl:Class N4d650327865f4d51807d28e274e113af biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002810 biolink:NamedThing right frontal lobe A frontal cortex that is part of a right cerebral hemisphere. tmpxe7fu0cj_hp_relaxed.owl FMA:72969|UMLS:C1281954|BIRNLEX:1786 uberon owl:Class N1eedb9bc12a14e3cbbaf7339d1edef18 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000352 biolink:NamedThing epiblast cell A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class N9a69632576f74703992ce585f408b085 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N808fca752bcd4ca5a20130dfbe53522c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003228 biolink:NamedThing Hypernatremia An abnormally increased sodium concentration in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood sodium levels SNOMEDCT_US:286926003|MSH:D006955|SNOMEDCT_US:39355002|UMLS:C0020488 human_phenotype owl:Class N1d458e210d2042b3831dab36fec1decd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N895facaf6c0648f084825d7f1f587013 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nab3616f762bc478d98eaa59552dc9831 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:38161 biolink:NamedThing chelator A ligand with two or more separate binding sites that can bind to a single metallic central atom, forming a chelate. tmpxe7fu0cj_hp_relaxed.owl chelating agents|complexon|Chelating agent|chelators|Metal chelator KEGG:C00917|KEGG:C02169 CHEBI:23090|CHEBI:6789|CHEBI:3585 chebi_ontology owl:Class N1366a2b3120c4748b8951e3009d5b7ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb8f86f00559d4353b051e8f9aa56c702 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030812 biolink:NamedThing Enlarged tonsils Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat. tmpxe7fu0cj_hp_relaxed.owl tonsils large/hypertrophy|Enlargment of tonsils|Tonsillar hypertrophy UMLS:C0272386|SNOMEDCT_US:46689006 owl:Class Ndbe43a0afdbc4935b1695e1d0513a157 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf72bdd7a2ba444b982e21ecef46acabf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5f141b5be5034099959bdede089dc181 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005002 biolink:NamedThing mucosa of right hepatic duct A mucosa that is part of a right hepatic duct [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl right hepatic duct mucosa of organ|mucous membrane of right hepatic duct|mucosa of organ of right hepatic duct|right hepatic duct mucosa|organ mucosa of right hepatic duct|right hepatic ductal mucosa|right hepatic duct mucous membrane|right hepatic duct organ mucosa FMA:14692 uberon owl:Class Na6b663c849ef4d0aa196c1ecb2bb5f83 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N992c674b2d5846999b8123c8118bbbae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc15c64c6e4b84f23a67d18242fc3b1d4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0017659 biolink:NamedThing ventral surface of penis tmpxe7fu0cj_hp_relaxed.owl urethral surface of penis FMA:19624 uberon owl:Class Ne9e0a755df8e40709f71076d2ff0b569 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naabe4b6426f744ee80102fd82071522f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4bb54f87cd824bb287b81d98630abd09 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009676 biolink:NamedThing early telencephalic vesicle tmpxe7fu0cj_hp_relaxed.owl early telencephalic vesicle|early telencephalic ventricle EMAPA:16914|EFO:0003562|EHDAA2:0001981|EHDAA:1993|EHDAA:2671 uberon owl:Class N1da9bc1c51fe4722b36693c16b20791a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndf12d64407c545289a571d70b4b576aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007715 biolink:NamedThing Weak extraocular muscles tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859436 human_phenotype owl:Class N972f0fdedf0948d8ae8011b23904c63a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N24177b29c40a4fb48586c30b1e09cb4e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N824c4cbda61949a8b6e448f64355f35b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N39f40d648b9d4ee58ff533169b433677 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndf7f40b9a68b45b2ba7441c6c1c0a156 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N218002f2df2f4a59a539ba63c79f53e5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0003142 biolink:NamedThing cardiogenic plate morphogenesis The process in which the anatomical structures of the cardiogenic plate are generated and organized. The cardiogenic plate is the first recognizable structure derived from the heart field. tmpxe7fu0cj_hp_relaxed.owl cardiac crescent morphogenesis tb 2009-09-22T04:12:18Z biological_process owl:Class N9434f524dcd646888bf9112588511bb5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc631ee3f5158414782c395f1aab42b3b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N619e1729b8bf4c32aa52d390328f15bf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5943c84ebe024b4e8b2f3ca4d91c7383 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd69ab64cdba344e985c450e6c4da9439 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012111 biolink:NamedThing Abnormality of circulating glucocorticoid level An abnormality of the concentration of a glucocorticoid in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023038 hecht 2012-09-16T04:22:26Z human_phenotype owl:Class N12bea461fe6a4b34a3b28473e23c52c1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7253704589a0443ba244cdcdc2bada25 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:000028527 biolink:NamedThing casein derived peptide tmpxe7fu0cj_hp_relaxed.owl owl:Class N07d13f6b0d664e99bd32eb896055a63f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5346a1fc551840e58b916cb278d2f6f0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na3341c527dc94d8ca32d304be638990e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N316c5a1d0437406898efc237a1ee8d07 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1b0d16dda2994c8ca1e48a2c52e1fd6c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3d4d252c923d48c3bbd82ac627a4b426 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N339cf21d771748449e4474486816a7c0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4bafea74e1d74ff087bba206ef02e452 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N049b7fa3c31e41aeac1521ac8b4bd35a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5defd69c63774af6a98cc51b34cc4775 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0c8db53204f94f408f6fe875e947f1f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd1a5dc9a2fa044d180278df44f2b41f7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb05221f122004f2dbae1876baf4d267a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0043474 biolink:NamedThing pigment metabolic process involved in pigmentation The chemical reactions and pathways involving a pigment, any general or particular coloring matter in living organisms, resulting in the deposition or aggregation of pigment in an organism, tissue or cell. tmpxe7fu0cj_hp_relaxed.owl pigment metabolism during pigmentation|pigment metabolic process during pigmentation biological_process owl:Class Nf5e61afbf6ef4898b755b48a96db55b3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N662b9050fb7a4084a084540033eea3f2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N999b61b49ee24dcfa5885fc295f7242b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N566d801619824c69bc79b46e80720b29 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0025525 biolink:NamedThing motor system The part of the central nervous system that is involved with movement. tmpxe7fu0cj_hp_relaxed.owl motor system NLXANAT:090805 It consists of the pyramidal and extrapyramidal system uberon owl:Class Nc3b2c2827a72452982ff82ccd786e6f2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0e9e8b916a114173aa2aeb519945e38a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naea84e8bca2c499198f126301125c997 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0013069 biolink:NamedThing popliteal area A depression on the ventral side of the femur, at the knee joint, between the condyles. tmpxe7fu0cj_hp_relaxed.owl popliteal fossa|knee pit|popliteal region|popliteal space NCIT:C103222|FMA:22525 uberon owl:Class N7d3c1c7c88044c3686517c00c484d06b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naa09c1bda99e457b8d2d7c1188532c30 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N91915d68476e42659aa18e73b8859e89 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002596 biolink:NamedThing smooth muscle cell of the carotid artery Smooth muscle cell of the carotid artery. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-03-06T05:01:56Z cell owl:Class HP:0030253 biolink:NamedThing Defective T cell proliferation A reduced ability of a T cell population to expand by cell division following T cell activation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022557 owl:Class N331dcf902d2b4d8a8967215efbea288e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfb62a3ac5a584999ac6b115b92cc02b7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500034 biolink:NamedThing Nasolacrimal sac obstruction Blockage of the nasolacrimal sac. tmpxe7fu0cj_hp_relaxed.owl 2018-01-31 16:35:58+00:00 ORCID:0000-0001-7941-2961 owl:Class N784a070b5fb145e795b98f12e3c4467d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbe9b440995a944809c9c5b8b356064e2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003275 biolink:NamedThing Narrow pelvis bone Reduced side to side width of the pelvis. tmpxe7fu0cj_hp_relaxed.owl Narrow pelvis bone|Narrow pelvis UMLS:C1848103 human_phenotype owl:Class Nffd8bd10bb284351a86d712b34b76850 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N814eea93a20146549b9a94d20ba800ba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7a5aa4ae816b4187a53c349b4e1dcb3d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nce41e9e6e20543a48c028b817c5501e5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N451a6f3817f94d418159b46fcf0f17b7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2ca233cccb304be882a95c948f47d4df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N071f201153114ae89e6df25fc892f47b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010654 biolink:NamedThing Aplasia of the falx cerebri A developmental defect characterized by aplasia of the Falx cerebri. tmpxe7fu0cj_hp_relaxed.owl Absent cerebral falx UMLS:C4023756 peter 2010-02-25T10:35:26Z human_phenotype owl:Class N2f69a4ee318c472ab4134da0e60ae62e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf3de3248c12e46e8ad28760de6fe6f82 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N03ae4598a9154b4bb13607661a81a2ea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001545 biolink:NamedThing Anteriorly placed anus Anterior malposition of the anus. tmpxe7fu0cj_hp_relaxed.owl Anus anteposition|Anteriorly displaced anus UMLS:C1838705 human_phenotype owl:Class Nd94350ab1c864322b0a711ddf7cf5fa2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0010007 biolink:NamedThing His-Purkinje system cell tmpxe7fu0cj_hp_relaxed.owl owl:Class Nceba31057eec42df880de97d15c892c7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021718 biolink:NamedThing superior olivary nucleus development The process whose specific outcome is the progression of the superior olivary nucleus over time, from its formation to the mature structure. In mice, the superior olivary nucleus is a small cylindrical mass on the dorsal surface of the lateral part of the trapezoid body of the pons, and it is situated immediately above the inferior olivary nucleus. It receives projections from the cochlear nucleus and thus is involved in the perception of sound. tmpxe7fu0cj_hp_relaxed.owl superior olive development biological_process owl:Class Nedcbef4d7935453a83e2942422dd7ef5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8d37ce2b587341feb0a53f6ae5927312 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1ab9c20fce9c4156a3bd23d60d0017c0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc1bf039853c14794b2935a3ac9d1173a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:7500047 biolink:NamedThing proximal-most point of head of humerus The proximal-most point of the head of a humerus. tmpxe7fu0cj_hp_relaxed.owl https://orcid.org/0000-0003-2699-3066 uberon owl:Class HP:0005365 biolink:NamedThing Severe B lymphocytopenia A severe form of B lymphocytopenia in which the count of B cells is very low or absent. tmpxe7fu0cj_hp_relaxed.owl Absent B cells|Absence of B cells UMLS:C1863715|UMLS:C4020824 HP:0002856 human_phenotype owl:Class Nc635205917ea45ca975a8ad6c416e308 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N96c2c84fba5048cfbc9cd40cbca2e85a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na624eee1681b47d2ad8bf6edc6bc52b8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011424 biolink:NamedThing Increased serum zinc An increased consentration of zinc in the blood. tmpxe7fu0cj_hp_relaxed.owl Hyperzincemia UMLS:C0856208|UMLS:C0854520 peter 2012-03-17T08:54:44Z human_phenotype owl:Class Nd3a2b5cc55e94e08b3886bb0c56dbe33 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N19df0d30a9194c7b9310d4d2358212e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6a38a2939e2347a39dd9b2f263d55bb5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc8c37367dbb846e89baeca0e6101d5c1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na27c86f45cbd42b28acf67b83fbb9d72 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010132 biolink:NamedThing Irregular epiphysis of the proximal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Irregular end part of the innermost bone of the big toe UMLS:C4024027 doelkens 2009-05-29T01:22:23Z human_phenotype owl:Class N15cac6e1fee241e19f2e4b8de624e1f2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na9f82c750798441db956c2c356121ca1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5b3d1e61e93643bd815a90bf80ec8397 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd11360009725489cbe603586abe9cef4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N10be74ef81154f8aa1c93ea63904e34c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005487 biolink:NamedThing Prominent metopic ridge Vertical bony ridge positioned in the midline of the forehead. tmpxe7fu0cj_hp_relaxed.owl Prominent metopic suture|Prominent frontal ridge|Ridging of metopic suture|Prominent frontal suture|Ridging of frontal suture UMLS:C1857949 The ridge may extend from the hairline to the glabella or may be partial. The frontal suture of the skull is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children and usually undergoes closure by the age of six years. A persistent frontal suture is known as a metopic suture or sutura frontalis persistens. This can lead to a ridged appearance of the forehead. HP:0005751|HP:0005488 human_phenotype owl:Class N5e251d7f5c1b4add83ac162f44e08834 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N321a085d31364c2eaa03704e43a4b904 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:137982 biolink:NamedThing tertiary ammonium ion An organic cation obtained by protonation of the amino group of any tertiary amino compound. tmpxe7fu0cj_hp_relaxed.owl tertiary ammonium ions|a tertiary amine|tertiary amine(1+) +1 HNR3 15.015 15.01090 [NH+](*)(*)* chebi_ontology owl:Class UBERON:0006526 biolink:NamedThing right lung alveolar system tmpxe7fu0cj_hp_relaxed.owl EMAPA:35717|MA:0001784 uberon owl:Class N36ebb589e02d47d29531b1d94a070f60 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9777f2df1d4941fcb147d08028b20904 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N29cf64043db44c7586aff05d8e6d5c0c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne5505839e7c244b0a9cf9140a6d9da33 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nef2c6274afd64c18a34c510c3b657690 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9f79b2a81f8843fc84068a913610b992 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003127 biolink:NamedThing Hypocalciuria An abnormally decreased calcium concentration in the urine. tmpxe7fu0cj_hp_relaxed.owl Low urine calcium levels SNOMEDCT_US:86353007|UMLS:C0020599 human_phenotype owl:Class N8e2ebb232cb44162978157f1852a20be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc5a9806b8d394aa1acb059b6d8f3e79f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N62722c47774e44b385afe67e9f537763 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003658 biolink:NamedThing Hypomethioninemia A decreased concentration of methionine in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased serum methionine|Decreased plasma methionine UMLS:C1848555 Normal methionine blood levels are around 30 micromole per liter. human_phenotype owl:Class N8258a6a3eb8a4f149c4922838c1257a1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3314a5b1fd854b468c57703bacbd92f3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd12cb887d1bd4b6cae5de27e2d2e16dd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006459 biolink:NamedThing Dorsal subluxation of ulna Partial dislocation of the ulna in the dorsal direction. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851988 human_phenotype owl:Class Ne19440dab93a4dd399a88e324a090010 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015155 biolink:NamedThing conjunctival space An anatomical space that is enclosed by a conjunctiva. tmpxe7fu0cj_hp_relaxed.owl subconjunctival space|cavity of conjunctival sac|subbrillar space|conjunctival sac cavity FMA:59083 uberon owl:Class Nfc50f20b2a8d40cdbc6cd731e7609cee biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N83d8b9263cbd482e9d38428586fdc6be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N74da42485e47416c8029a6d143288742 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nab36a0f89d49435caa5a98efe9a5e3cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1a0783aa32fd477690d7cba4a5aaa1de biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005219 biolink:NamedThing Absence of intrinsic factor Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12. tmpxe7fu0cj_hp_relaxed.owl Intrinsic factor absent from gastric juice UMLS:C4021641 This feature can be ascertained by immunoassay of gastric juices. human_phenotype owl:Class N5652ba410b974ac687a111ae3cf939c0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne45b9ca7d5de4f29a9c7d1b9115945c2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002221 biolink:NamedThing Absent axillary hair Absence of axillary hair. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859392 HP:0004549 human_phenotype owl:Class Nf77e6ddb0bfe4fc4919fe6110b14e31c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001089 biolink:NamedThing Iris atrophy Loss of iris tissue (atrophy) tmpxe7fu0cj_hp_relaxed.owl Iris degeneration UMLS:C0423319|SNOMEDCT_US:95709007 human_phenotype owl:Class Nb259b8fa70cc44d69ac38cb95e9b5e30 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N43522d9fcfb44a53bf878243481bc198 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005609 biolink:NamedThing Gallbladder dysfunction tmpxe7fu0cj_hp_relaxed.owl Gallbladder dysfunction UMLS:C0232769|SNOMEDCT_US:51047007 human_phenotype owl:Class N10746c83012b4926be75e62b58415865 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4f8e7627d6464ce6b8867d9614ea1642 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0016886 biolink:NamedThing muscle tissue of terminal part of digestive tract Any muscle tissue of the distalmost portion of the digestive tract. tmpxe7fu0cj_hp_relaxed.owl rectum muscle structure|rectum muscle uberon owl:Class HP:0005945 biolink:NamedThing Laryngeal obstruction Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0264306|SNOMEDCT_US:61169001 human_phenotype owl:Class N9ff1df9aaf7843ea92e29aed81750304 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012021 biolink:NamedThing Persistent patent ductus venosus Persistence of blood flow through the ductus venosus for longer than the normal time after birth. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023072 The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth. peter 2012-07-26T10:10:58Z human_phenotype owl:Class N6c85a7eee3e5427883793b944bcab791 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N08c2b44eb9364c69994f7a28dfaf9bd6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4470e9e8c983422e9b5f342c5a944f51 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N005d84e2c8a345688418960c19e14356 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1510fd6e65bf47489cb77668d0f91297 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc8a19c1550464f74b66aeef70035a557 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0061307 biolink:NamedThing cardiac neural crest cell differentiation involved in heart development The process in which a relatively unspecialized cell acquires specialized features of a cardiac neural crest cell that will migrate to the heart and contribute to its development. Cardiac neural crest cells are specialized cells that migrate toward the heart from the third, fourth and sixth pharyngeal arches. tmpxe7fu0cj_hp_relaxed.owl dph 2010-09-23T08:50:56Z biological_process owl:Class N64e100fe8abd4616a229017d1d296945 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N47c5961136ed433b98af7ecfe2b89cbf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1a0ad941f8134369875873d79ba22bec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfdbb7c72e8bc43988aef5d4e397eae9f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N65a3ad81886740e39e8692be3943cc2c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfe116512f97447a5bc0264265ca47b89 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb3b50e1f8bbc452a85fb8009e5b6a6b2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0061309 biolink:NamedThing cardiac neural crest cell development involved in outflow tract morphogenesis The process aimed at the progression of a cardiac neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell that contributes to the shaping of the outflow tract. tmpxe7fu0cj_hp_relaxed.owl dph 2010-09-23T09:08:37Z biological_process owl:Class Nd268bbb3f7444a2dabba77b37ffc3865 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7b26fa459603470ababd40b2d5dc2f53 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd03b2883eaef4c28a43d7902a42cd8a5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N102943e4db4c436eba98244b8c1be01a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb7382b3200ab4e7380978bebb04efd7b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5ef5495d2c8f408f936b107e43db5463 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0005585 biolink:NamedThing collagen type II trimer tmpxe7fu0cj_hp_relaxed.owl owl:Class Nb14f1e4093d348dd9ac5c499871d38ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbc909479e2df4a5ab73e3baf0f666a03 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N047db63231c448d4a0693097581726b7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005005 biolink:NamedThing mucosa of left ureter A mucosa that is part of a left ureter [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl left ureter mucous membrane|left ureter mucosa of organ|left ureteral mucosa|left ureter organ mucosa|left ureter mucosa|mucous membrane of left ureter|organ mucosa of left ureter|mucosa of organ of left ureter FMA:17807 uberon owl:Class N3c1a5e10ee594e1ea10b47f528e611b7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne676f052444e4b4cbfcdeaaa136f3968 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N076eac607f5c420685cfd12e9d593e82 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002510 biolink:NamedThing anterior fontanel In humans, the anterior fontanelle (bregmatic fontanelle, frontal fontanelle) is the largest, and is placed at the junction of the sagittal suture, coronal suture, and frontal suture; it is lozenge-shaped, and measures about 4 cm in its antero-posterior and 2.5 cm in its transverse diameter. The fontanelle allows the skull to deform during birth to ease its passage through the birth canal and for expansion of the brain after birth. While the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior is not completely closed until about the middle of the second year. Full ossification starts in the late twenties and finishes before the age of 50 . [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl anterior fontanelle|fonticulus anterior|frontal fontanelle|bregmatic fontanelle EMAPA:19199|MA:0002830|FMA:75439 http://upload.wikimedia.org/wikipedia/commons/b/b3/Gray197.png uberon owl:Class TAO:0001739 anterior cranial fontanel is 'Fontanel that is located between the contralateral frontals and anterior to the epiphyseal bar' N74ae8de07bc14c53b95edccaf184362e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8b2fe0e11f524fcaadd6b415ab747b72 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011822 biolink:NamedThing Broad chin Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. tmpxe7fu0cj_hp_relaxed.owl Wide chin|Broad chin|Increased width of chin|Increased width of menton region UMLS:C4023172 peter 2012-04-30T08:23:35Z human_phenotype owl:Class N2f18559c09f04342a31ab4af08495c54 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf75bfcc977c34693ac9b050865adb1f4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9fefa1b64b814f869a00a2f52a27dab0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8016803ee51d482681f5c312be402216 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011269 biolink:NamedThing Bifid tragus Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak. tmpxe7fu0cj_hp_relaxed.owl Tragus, bifid|Notched tragus UMLS:C4021173 peter 2011-12-18T07:56:56Z owl:Class N10ae0e35ced44efa8a2c20e4d6027548 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2e5fec9e32a3477b84af8d6ffe129386 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd68d9ddd239d43498e4289a36efcfbeb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0ca1b36c971a43e3a4dc0f04bd118e00 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N556e979a15e942f185362665b74e2c88 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4f16133ddd67465bb808c8e49f9b5536 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N728bbdf7d0cd4bd4b93818de8d37bb01 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N34b0f123c16c4ceba7af2f4e35509a7f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9fb13409572b44efb36ad141b2451d64 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009195 biolink:NamedThing Epiphyseal stippling of the metacarpals The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in end part of the long bone of hand|Stippling of the epiphyses of the metacarpals UMLS:C4021514 doelkens 2008-12-30T02:03:34Z human_phenotype owl:Class N2308166d34ba4e3a9199d3166850217d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021510 biolink:NamedThing spinal cord development The process whose specific outcome is the progression of the spinal cord over time, from its formation to the mature structure. The spinal cord primarily conducts sensory and motor nerve impulses between the brain and the peripheral nervous tissues. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N6fc8a09452de4f1780eb38e31d82f976 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9d3bbe81bf0a4e248d7aa631224e4b52 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9dfc0dcdef294465a18e8b970c249535 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N47f5d3db18e44966bd59a66d4deaf7c1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9cdef00a5d3a4673939a4b63d5a15433 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na1b723d633d9455aacdf1a045a4a2f7c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N95897524ba014b9d9511757ecaf0f472 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5496a591de764c56a4767a425dc3e106 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N33bc4e830a1b41c688710ae835f76c42 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005403 biolink:NamedThing ventral striatum A composite structure of the telencephalon that is defined in the striatopallidal system by connectivity and neurochemical staining. It includes the nucleus accumbens, the most ventral portions of the caudate nucleus and the putamen, the rostrolateral portion of the anterior perforated substance, the islands of Calleja and a rostral subcommissural portion of substantia innominata. The boundary between the ventral striatum and dorsal striatum is indistinct in sections stained for Nissl substance (Heimer-1995; adapted from Brain Info). tmpxe7fu0cj_hp_relaxed.owl striatum ventrale|striatum ventral region FMA:77614|BTO:0004702|MA:0002972|BAMS:STRv|BAMS:StrV|NLX:57107|EMAPA:36576|BAMS:Ventral_striatum|MBA:493|PBA:10091|DMBA:15858|EFO:0001936 uberon owl:Class The term ventral striatum refers to a composite structure of the endbrain that is defined in the striatopallidal system by connectivity and neurochemical staining. It includes the nucleus accumbens, the most ventral portions of the caudate nucleus and the putamen, the rostrolateral portion of the olfactory tubercle, the islands of Calleja and a rostral subcommissural portion of substantia innominata. The boundary between the ventral striatum and dorsal striatum is indistinct in sections stained for Nissl substance ( Heimer-1995 ). Nb4033fd572c743bbae98739a5cd507a9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N22cb69bc7c0a4797b8c20de6925305ad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N84dc0662f4894e13af1b3bcc9e7d952a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na848fb2dc0a24f24be575ce3cc3a34c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb51aac0d460345f4941cd5808a87ddf3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N70d502a8acac42c68443d4dc9b7eaa9b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naa090fd53fd948cebce51be05f0b76e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N403a5eb6a6ca4950a3f0e42614fa2be5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N22f712c1db3042b2b62b00e86b81aab4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1de9d111636b41a598268a60d095c061 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4448da3034cf41d097877a2c5e39ec2a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3dba6159fc69470fb89f8681fcafd2c4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N22efbc143eb940d1bbe716e2496a0b49 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2a8a366a0fa844668a246c2f47cef028 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2e9d2a38db714e1b90818904bff623ad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3d35b5a582704412a1015008b0609184 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N667c78b849214304b0e2e323a6ef0989 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N47382da9179341b886bfabc2c9561aa9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005152 biolink:NamedThing Histiocytoid cardiomyopathy A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells. tmpxe7fu0cj_hp_relaxed.owl Infantile xanthomatous cardiomyopathy|Oncocytic cardiomyopathy|Foamy myocardial transformation|Focal lipid cardiomyopathy|Isolated cardiac lipidosis|Infantile cardiomyopathy with histiocytoid changes|Myocardial or conduction system hamartoma|Arachnocytosis of the myocardium MSH:C535584|UMLS:C1708371 This HPO term intends to refer to the histological changes that characterize histiocytoid cardiomyopthy. The disease entity Histiocytoid cardiomyopathy is a rare arrhythmogenic disorder characterized by incessant ventricular tachycardia, cardiomegaly, and often sudden death by age 2 years. human_phenotype owl:Class N6d0b57784be84dedb5d0d84b55850832 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ned5039be630b47bb9b5c42f52bc86eac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004230 biolink:NamedThing Subluxation of the proximal interphalangeal joint of the little finger A partial dislocation of the proximal interphalangeal joint of the little finger. tmpxe7fu0cj_hp_relaxed.owl Partially dislocated innermost hinge joint of pinky finger|Partially dislocated innermost hinge joint of little finger|Partially dislocated innermost hinge joint of pinkie finger UMLS:C4025404 human_phenotype owl:Class Nb1bfdf94807b4b6bbd8674dbf6adb429 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfcb93c299d6f43ee93ee8e89e24778bc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne9a9fa5bec894e858720ad3c4a2757d0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7a6a9092cde94637b81076d42909857a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010913 biolink:NamedThing Hyperisoleucinemia An increased concentration of isoleucine in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood isoleucine concentration UMLS:C4023657 Normal isoleucine blood levels are around 60-80 micromole per liter. peter 2010-12-08T08:49:42Z human_phenotype owl:Class N5de5cfb9250b463dbdb111600019836d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000300 biolink:NamedThing Oval face A face with a rounded and slightly elongated outline. tmpxe7fu0cj_hp_relaxed.owl Oval face|Oval facial shape|Oval facies UMLS:C1849025 human_phenotype owl:Class Nc9cbbaf1266e45d686d21e7b9414d699 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd6c494bc115a4031a4f3544f95521ea5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2e5239baeeba4e10be835a5bfe51fbb3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2ccdba2935ec45c1bafaad901a730fc1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0009621 biolink:NamedThing tail somite A somite that is part of a tail. tmpxe7fu0cj_hp_relaxed.owl XAO:0003143|EMAPA:16860|AAO:0010383 uberon owl:Class GO:0045111 biolink:NamedThing intermediate filament cytoskeleton tmpxe7fu0cj_hp_relaxed.owl owl:Class N749fee84fd33476aaaee5518db781870 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N858210e3f0e94f68a1074081639c0530 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc1b875f17cbe427dbc5c40fb34b8731a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N70e7081722fe447d8071c069aa68eea3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0015854 biolink:NamedThing interpedicular line An anatomical line that connects two successive vertebral pedicles. The length of this line is known as the interpedicular distance. tmpxe7fu0cj_hp_relaxed.owl interpedicular distance|inter-vertebral-pedicle line uberon owl:Class N1ec0522f1cf2432f801fa35c16978314 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3f5d735c68ae4e99bf792d622f84ed07 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010896 biolink:NamedThing Hypersarcosinemia An elevated plasma concentration of sarcosine. tmpxe7fu0cj_hp_relaxed.owl High plasma sarcosine levels MSH:C537236|UMLS:C0268563|SNOMEDCT_US:64852002 Sarcosine is the N-methyl derivative of glycine. peter 2010-11-30T05:38:24Z human_phenotype owl:Class Nedc77ca36765492fbb3bf4e98d829cc1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N200c4bf58cb64cf88d6e9196a0f7666e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd61e4cb442db41e09d4b7cadcf50db82 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N329bad0816334c3ca40a0d8040063f99 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbbc5c1d0261d40df8d64d0794ccddb11 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd806f92021114079981cbba998f861c4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nda295a8a4b404e0295e6d7f2d0afe806 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbcdffbe87a9843d7a6f1a87452eb3dc8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N242aa21512744de681dda359d32f60ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nab8e96c22bd74e5eb00a1dcd86b7e190 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4874708afd034abb8066dc696eaef97a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nabe7660eac554eb78db5018fe45b36c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9ee15780337c4a5b864c9e76d954ded2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001882 biolink:NamedThing Leukopenia An abnormal decreased number of leukocytes in the blood. tmpxe7fu0cj_hp_relaxed.owl Low white blood cell count|Decreased blood leukocyte number MSH:D007970|SNOMEDCT_US:84828003|UMLS:C0023530 owl:Class N5aef6cd7b8494d53945764c19b73db45 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000103 biolink:NamedThing Polyuria An increased rate of urine production. tmpxe7fu0cj_hp_relaxed.owl Increased urine output MSH:D011141|UMLS:C0032617|SNOMEDCT_US:718402002|SNOMEDCT_US:56574000|SNOMEDCT_US:28442001 An excessive volume of urination for an adult is more than 2.5 liters of urine per day. HP:0200060 human_phenotype owl:Class N18f0f531d69b4f91a3e72b11c1746dc0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N082b1b3c2f7e4fe293a0b0fe2ec43a20 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5de884c87a95463fbd7be4e273a2dae4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N192dad0c35374144b9f1e01adee61182 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne443246561014d888d1e7430de8eae30 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nded7204495a046faa7aa44fd5661c0e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5e0c1fb4d35a4035bbae4e7ec3b1fcd5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N086dd5fcce38436bb6a1ba3d66c8dea8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0035082 biolink:NamedThing axoneme assembly The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. tmpxe7fu0cj_hp_relaxed.owl axoneme biogenesis|flagellar axoneme assembly|ciliary axoneme assembly|cilium axoneme biogenesis|cilium axoneme assembly|flagellum axoneme assembly Note that cilia and eukaryotic flagella are deemed to be equivalent. GO:0035083|GO:0035084 biological_process owl:Class GO:0035260 biolink:NamedThing internal genitalia morphogenesis The process in which the anatomical structures of the internal genitalia are generated and organized. The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class UBERON:0010522 biolink:NamedThing replacement element Skeletal element that forms as a replacement or substitution of another element or tissue. tmpxe7fu0cj_hp_relaxed.owl VSAO:0000135|ZFA:0005624|XAO:0004016 uberon owl:Class UBERON:0003713 biolink:NamedThing splenic vein A vein arising from the splenic trabecular vein in the hilum of the spleen that drains into the portal vein. tmpxe7fu0cj_hp_relaxed.owl lienal vein|vena splenica|vena lienalis MA:0002164|OpenCyc:Mx4rwCt0eZwpEbGdrcN5Y29ycA|FMA:14331|MESH:D013162|galen:SplenicVein|EMAPA:37226|GAID:541|UMLS:C0038001|NCIT:C33608 http://upload.wikimedia.org/wikipedia/commons/e/e4/Bilebladder.png|http://upload.wikimedia.org/wikipedia/commons/5/5b/Gray1189.png uberon owl:Class Nbf30f3f717c34db8aa84ba5b3945a9fb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000174 biolink:NamedThing steroid hormone secreting cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class N9a42eee4e85e4a1c84de959c769206d0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011383 biolink:NamedThing Enlarged semicircular canal Increased size of the semicircular canal. tmpxe7fu0cj_hp_relaxed.owl Dilated semicircular canal UMLS:C4021156 peter 2012-03-09T07:16:58Z human_phenotype owl:Class N3508cae2a2b3446689b314bd6d1d9a18 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0002295e52e14c69ad06e0c92c9304f6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002343 biolink:NamedThing abdomen musculature Set of all muscles in abdomen. tmpxe7fu0cj_hp_relaxed.owl abdominal musculature|muscle group of abdomen|muscles of abdomen|set of muscles of abdomen|musculature of abdomen|musculature of abdominal wall ZFA:0001327|FMA:86917|FMA:71294|TAO:0001327 distinction between abdomen muscle and abdomen musculature uberon owl:Class GO:0006525 biolink:NamedThing arginine metabolic process The chemical reactions and pathways involving arginine, 2-amino-5-(carbamimidamido)pentanoic acid. tmpxe7fu0cj_hp_relaxed.owl arginine metabolism Wikipedia:Arginine biological_process owl:Class Nc5bbfaf20595427f895de41cf9f9c140 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N00740b2d10a34e6ea2429b28c2cce3c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N02f1ce9e91984ee29f62dc453e6a0bd3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001385 biolink:NamedThing Hip dysplasia The presence of developmental dysplasia of the hip. tmpxe7fu0cj_hp_relaxed.owl Abnormal formation of the hip|Congenital hip dysplasia SNOMEDCT_US:48334007|MSH:D006618|UMLS:C0019555|SNOMEDCT_US:52781008 HP:0008787 human_phenotype owl:Class N57af690461fe40c59d8871ae3fad05e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9f4221a332514ad59b05c27d18a9510d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0032129 biolink:NamedThing Decreased proportion of plasmablasts A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells. tmpxe7fu0cj_hp_relaxed.owl 2018-11-22 13:02:59+00:00 peter owl:Class N4a9de1210be74201b4339bf97070e9c0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncea5925262844fd2a5cd734a78912f42 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nad53d75aa52d44e5bb947adaa49c1e26 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N32269c75b07c46819a7ac6e22fba90bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neb8acea7b1904802a2c734ee95f4c87f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0025038 biolink:NamedThing Intratesticular abscess A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins. tmpxe7fu0cj_hp_relaxed.owl Testicular abscess 2016-09-21 11:02:09+00:00 HPO:probinson owl:Class N45a3c069470b41a3b2bfe3ccc7c46cb8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012242 biolink:NamedThing Superior rectus atrophy Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe. tmpxe7fu0cj_hp_relaxed.owl Rectus superior atrophy UMLS:C1851108 peter 2013-04-02T06:55:22Z owl:Class N209f53faf3e44c7283863bc58d76a9e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd530b4b273dc4410873d01a2cee026ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne334b67fb4544575918f5f14b74faeb3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HsapDv:0000002 biolink:NamedThing embryonic human stage Prenatal stage that starts with fertilization and ends with a fully formed embryo, before undergoing last development during the fetal stage. tmpxe7fu0cj_hp_relaxed.owl first trimester|embryo stage EV:0300001|FMA:72652 By embryo we mean in the sense of up to the 8th week postfertilization (over 7 and under 8 weeks), we treat fetus as a separate stage. human_developmental_stage 56.0 owl:Class N755b5eb531da4727a4d3693c5f101ac4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N33515ac349d94a4b90c3e3627310fb8b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6f7b63893b904fcab3565b02c2ac029a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012402 biolink:NamedThing Increased urine alpha-ketoglutarate concentration A greater than normal concentration of 2-oxoglutaric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urine alpha-ketoglutarate concentration|Elevated urinary 2-oxoglutarate UMLS:C4022915 Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. peter 2013-11-09T03:48:37Z human_phenotype owl:Class N23d3cb8c5c9b472aab1f6115963574e1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006535 biolink:NamedThing Recurrent intrapulmonary hemorrhage A recurrent hemorrhage occurring within the lung. tmpxe7fu0cj_hp_relaxed.owl Recurrent intrapulmonary haemorrhage|Recurrent pulmonary haemorrhage|Recurrent bleeding into lungs|Recurrent pulmonary hemorrhage UMLS:C3805919 human_phenotype owl:Class Ne7b50797dcc649eab854a1b35c13a72a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6578191c31e8485ab783d96555f81c5d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:41609 biolink:NamedThing carbonate tmpxe7fu0cj_hp_relaxed.owl carbonate|CO3(2-)|Karbonat|CARBONATE ION|trioxidocarbonate(2-)|[CO3](2-) -2 CO3 InChI=1S/CH2O3/c2-1(3)4/h(H2,2,3,4)/p-2 BVKZGUZCCUSVTD-UHFFFAOYSA-L 60.00890 59.98584 [O-]C([O-])=O PDBeChem:CO3|Beilstein:3600898|Gmelin:1559|CAS:3812-32-6 CHEBI:41605|CHEBI:29201 chebi_ontology owl:Class HP:0100867 biolink:NamedThing Duodenal stenosis The narrowing or partial blockage of a portion of the duodenum. tmpxe7fu0cj_hp_relaxed.owl Duodenal stenosis/atresia UMLS:C0238093|UMLS:C1860791|MSH:C535720|MEDDRA:10050094|SNOMEDCT_US:73120006 doelkens 2011-11-30T11:13:27Z HP:0005205|HP:0010449 human_phenotype owl:Class Nb0f415f5c13a45f79293004a11161f0b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0e363d753231451ab8de2e141cfb53b6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N10bbe0d37f3c423a90137ea0a1070e4c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N281f38bbffe944bea2db1fccfd0249e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N366fc85ddbbe483ebcb29cf85a1667ec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc75da84f480f4b3aa5e2dd8cfe91f5ff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8b5c3f5e3b2b403899c7981b6ba7120f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf0c7d7ac20994632b78186c60ec26de1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na7601b2250ea4691a262ed3fea2a5fc5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N60bc824d58e647f09cb42f68bde58d3d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5ea58fde8e004bb3b53b0733fbccd49f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005180 biolink:NamedThing Tricuspid regurgitation Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. tmpxe7fu0cj_hp_relaxed.owl Tricuspid valve regurgitation|Tricuspid insufficiency MSH:D014262|UMLS:C0040961|Fyler:1161|SNOMEDCT_US:111287006 This term should not be applied to Ebstein's anomaly of the tricuspid valve (see HP:0010316). HP:0004753 owl:Class Na5a63ee1d86245f896ce1b3bc3104cf7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncb43d0e173aa4f5580c999f7f28bdf3d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4f7e55450685428d92f090af1a0dbd08 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N806b5ae91b0943089c33af1c36e6e5c4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naa706a2feeb44ed3b51e40c2347ef03d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncd2f0ffeadaf4b4ab2dd4d735c39dfe3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100859 biolink:NamedThing Dilatation of superior mesenteric artery Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery . tmpxe7fu0cj_hp_relaxed.owl Superior mesenteric artery aneurysm SNOMEDCT_US:65498003|UMLS:C0264974 Aneurysm is considered a severe form of dilatation. doelkens 2011-11-30T10:07:35Z human_phenotype owl:Class N15afc99da2564235b0014e40232f792a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndff9355658864ec2af40f39c832a8312 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N99eca0f5b1a445bfb2ffcf517046d6d5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3e26d4e0f9a64dd4bc045d411b081d57 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2c5cfa3241fc4696be9fc1088fa82cbb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002547 biolink:NamedThing fibroblast of the aortic adventitia A fibroblast of the aortic adventitia. tmpxe7fu0cj_hp_relaxed.owl tmeehan 2011-02-28T04:43:41Z cell owl:Class N4c1b4d7c9b8a4d4387b9c8fa662227ba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N69d379807aea462db43dd31f3b1cb0fc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500031 biolink:NamedThing Sclerosis of the carpal bones An elevation in bone density in one or more carpal bones of the hand. tmpxe7fu0cj_hp_relaxed.owl 2017-06-01 16:54:00+00:00 ORCID:0000-0003-0169-8159 ORCID:0000-0001-7941-2961 owl:Class Nf30fbf567d344e69bec7383245ef6fc2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N12c036eac18f40a5bd28373c1e25f55b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N24d979615e8949b6885f477e164d44bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nffd99a6e39ea4072869de83652e57eaa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8fe92353f38242619a7ac42fc5fce3b7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd7854ea93d4a4a839f10d3646aeb3e55 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4bac50dbc5d44a4e82c2fa1cdf818bcb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd6b01a9577b8452c93ee0fa43f435cf6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncf75f4ef251b48948f43b89d2c9766ef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001407 biolink:NamedThing Hepatic cysts tmpxe7fu0cj_hp_relaxed.owl Liver cysts UMLS:C0267834|SNOMEDCT_US:85057007 human_phenotype owl:Class N5ca2ed9b546742c09d0fc3b4e683a47f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002209 biolink:NamedThing intermediate epitheliocyte An epithelial cell present in the trachea and bronchi; columnar in shape; generally lack cilia; immature forms of ciliated or secretory cells which have been formed from stem cells. tmpxe7fu0cj_hp_relaxed.owl undifferentiated columnar cell of tracheobronchial tree FMA:69060 tmeehan 2010-09-02T02:53:59Z cell owl:Class N09d4f3cd3bd144d7bda7f8b38d03fd8f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1eb2b21beca14669b830d9c4b8c33f46 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbdca2210e6dd4c7c9eb7bc5d9450b2a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd76dd678509d4e64a27060862a6b9e69 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0042427 biolink:NamedThing serotonin biosynthetic process The chemical reactions and pathways resulting in the formation of serotonin (5-hydroxytryptamine), a monoamine neurotransmitter occurring in the peripheral and central nervous systems, also having hormonal properties. tmpxe7fu0cj_hp_relaxed.owl serotonin biosynthesis|serotonin anabolism|serotonin synthesis|serotonin formation Wikipedia:Serotonin biological_process owl:Class N7f3655ece83044448c3da190b8949517 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na3e2bafda0984e4dba0a71bed8049f5b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na9be85103fe946348cfde5ee0c5fb06a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2187ee482533439aa507464ad86fe593 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc8cc8c3aa17e4ef891bd45d57188a4f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N690ee54017b54a549d326b70529f51bd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nabcbd336b25e4bb489d244cf53ee5f9b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100411 biolink:NamedThing Complete duplication of the middle phalanx of the 4th toe Complete duplication of middle phalanx of fourth toe. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the middle bone of the 4th toe|Complete duplication of the middle phalanx of the fourth toe UMLS:C4020986 human_phenotype owl:Class N75e151c42331483992f37d131968de79 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N89e31147d7be4806962db0b87974af68 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncf3dfe9b7f194270a332ac738d3192b1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf839e48ce7474be7933f94bf77df7489 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0ec5de764f2f48ee85480ab5e2e8c6ea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne02e479fe66c411fb51a0cb55d7d03b3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N40477e206d8c4923b13e3ef46b4fa5e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N856f5f80f8264a9a975de202d4e30a4d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N79aa55f39daa44c49a32865be0428eb3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5955104d233e4f9297767fd14ce32d3c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007204 biolink:NamedThing brachiocephalic vasculature The vasculature consisting of brachiocephalic arteries and veins. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class GO:0140097 biolink:NamedThing catalytic activity, acting on DNA Catalytic activity that acts to modify DNA. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/14225 pg 2017-09-14T12:03:51Z molecular_function owl:Class Ndda7db3506be414d84c035f69d571e99 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2fddfa88722c437a8ba8bcb0b5ede581 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndfbc08251fac4c3c95a85ec098d052a0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naa34892efdf548dcb6d9b1e30c5e692e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nda2ed8f3e18a418190b75c4d6ee3e82e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N61fce472a52d46b8a6be1932beab0769 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5e9a9fb69c694c019c5d5c6fb0b48970 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N35e314b2f6ee4e058a5aaf29f0551844 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7792ec8554d043038d960b1c28f17ebd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb57c522bfc634d9580e3613e9fe2607a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0fa4735f150b4c25a95214b5a247a497 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N68dad401cbef4cb398db7e8e5432b11e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008202 biolink:NamedThing bone of hip region tmpxe7fu0cj_hp_relaxed.owl FMA:42854|MA:0000655|EMAPA:37308 todo - consider obsoletion uberon owl:Class in MA, this includes the femur. i.e. pelvic girdle bone or femur; note that this makes the ilium etc in MA hindlimb bones. in MA this is a hindlimb bone Nd4988e2dbd5243b49114761b5fe0d5cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009765 biolink:NamedThing Low hanging columella Columella extending inferior to the level of the nasal base, when viewed from the side. tmpxe7fu0cj_hp_relaxed.owl Columella, low hanging|Prominent columella|Columella extends below the ala nasi|Extension of the columella below the ala nasi|Rounded columella|Low-hanging columella|Columella, low UMLS:C4280395|UMLS:C1856119 peter 2009-02-01T11:01:14Z HP:0009766 human_phenotype owl:Class Ne1f92f58152d457592b621a248e5801b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N11506e71c8da4336ac8b4fafaa5854ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5062fbb5f5a34dd8837b2f0f74132b8e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008726 biolink:NamedThing Hypoplasia of the vagina Developmental hypoplasia of the vagina. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped vagina|Hypoplastic vagina|Rudimentary vagina UMLS:C1442988|UMLS:C0345309|SNOMEDCT_US:253836009 HP:0011938 human_phenotype owl:Class N963eec60a21944b5825abd84379d6377 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N17cefc7e94d64a628710ce617469e91e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbfa0baa7960e45d1a09d2703c8e4bc46 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3309f113ee5142108dfa4641d025fcae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002043 biolink:NamedThing Esophageal stricture A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. tmpxe7fu0cj_hp_relaxed.owl Narrowing of esophagus due to inflammation and scar tissue|Narrowing of oesophagus due to inflammation and scar tissue SNOMEDCT_US:63305008|MSH:D004940|UMLS:C0014866 Gastroesophageal reflux is a common cause of esophageal stricture. human_phenotype owl:Class Nb9f2a9b935564ce88acffe0a325d1e8f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100101 biolink:NamedThing Bracket epiphysis of the distal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the outermost bone of the 2nd toe UMLS:C4022320 doelkens 2010-06-24T10:04:20Z human_phenotype owl:Class N37444b1fe12043089f145a76bcf189a4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8e30d032c0a64ae7b10bb6d6f7b01cc9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na8bf4a7c566948ffa2992b5f3f307415 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbb3c93874116414bb96014179004ecd0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndb596e926dec4563990e116bc883c42a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7943b9c748c2433292b584939e96fac2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na4a90676693240b78cbe7086e6fc0d53 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N71b4c209879d49e4a0b8c67f507e7fc7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd2bd05c5e0d741deb2e2182ec8361c25 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:23981 biolink:NamedThing ethanolamines tmpxe7fu0cj_hp_relaxed.owl ethanolamine chebi_ontology owl:Class PR:O54990 biolink:NamedThing prominin-1 (mouse) A prominin-1 that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl antigen AC133 homolog (mouse)|Proml1|mPROM1|CD133 (mouse)|prominin-like protein 1 (mouse)|Prom1|Prom UniProtKB:O54990 Category=organism-gene. protein owl:Class N341696c0086440ef914069b57ada3f23 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2338ff0af90a4ef888c0031351b81c6a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000957 biolink:NamedThing lamina Any thin layer or plate. tmpxe7fu0cj_hp_relaxed.owl laminar tissue Wikipedia:Lamina_of_the_vertebral_arch http://upload.wikimedia.org/wikipedia/commons/8/80/Laminaarcusvertebrae.png TODO - merge with cell layer? uberon owl:Class laminar Ndf26c4bf90d34e5fbf935d9a332f43d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000243 biolink:NamedThing Trigonocephaly Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. tmpxe7fu0cj_hp_relaxed.owl Wedge shaped head|Wedge shaped skull|Wedge shaped cranium|Triangular cranium shape|Triangular skull shape|Triangular head shape UMLS:C0265535|MSH:D003398|SNOMEDCT_US:28740008|UMLS:C4280666|UMLS:C4280665 This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture. human_phenotype owl:Class N68ddf002d1774399bef3d8916d031c2f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nec8ddeaabbd54e8ea03881fd4439f9ec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N10ca8d2553ba44ceb50eae448cfb54c3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N31e516066e0d46fc9c8bf0f077791cea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6f8fe12f6cf9422daf4d8910eb3908b6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na237e1fb416149bfa47d31b38ac70f4c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N88a249695e2a417faaa627efba89985f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb22e59c0046544778b5cc9d468d4de49 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6bbc41bb69f34fc2a22756810612088a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6bbb45622fda46378b49455e63bffb61 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500027 biolink:NamedThing Aplastic colon Congenital absence of the colon tmpxe7fu0cj_hp_relaxed.owl Aplasia of the colon|Absence of the colon 2017-05-29 17:10:13+00:00 ORCID:0000-0001-7941-2961 owl:Class N7b288b1d365f4f09b812dcc46d1a0a3a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N34f5a0eed104424fbb7f08deafbff8f4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc679e8bec95647068abbfbe04973f9c2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8c2e4d2bd0e041f2880f772cb16e3889 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncd1ab302839247c0a68343f0bf79cee8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7ceec603f34944489f1fe180fd16a0f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1efbca959f1b4f3f9b3b5a568e764b84 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncdf0f93e4bd04bf2af4c487393cfabe9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbb685e58c16a4e9caac1e2e18981042c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N14b6e2b03bc247e6a81035dfb01c5caf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na1ce0dc87e8c4c49883c3a2f0fcb8e42 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N78a8fb872b604cddb0d4b7c365d3dc9c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N82f2b02da2bd4418b0e01d6dc84163a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6df3ed2ec1e74dae990db7b463958714 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5cb63cd9c1df46859fdc5624ae785b95 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nea6e60a32c6746f1af11afb932281c26 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N73cb738cc5874dd79458407de53a4263 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8f9af0db94c74ad49d11280a6ec79a58 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9897893d0baf4d62871956a7f4462d0a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3f5443ed7e3a479f9900ef68e560869a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N48856d41e5984858a6b154bfe3c960e6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne874aa2c9b2141dcb9103761dc37e731 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc8e03e6ee3ab422083a7d30f893a2102 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N15eac3aa2ec146d9823ee5b632ac5d23 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N528cdfd870754a8cae2b72f29f7fd6a7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006035 biolink:NamedThing Cone-shaped epiphyses of phalanges 2 to 5 tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of digital bones 2 to 5 UMLS:C1857005 human_phenotype owl:Class N4eb4c467d0eb44daacc260969feaa0b4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:18361 biolink:NamedThing diphosphate(4-) tmpxe7fu0cj_hp_relaxed.owl Diphosphat|PPi|[O3POPO3](4-)|pyrophosphate ion|mu-oxido-bis(trioxidophosphate)(4-)|Pyrophosphat|DIPHOSPHATE|Diphosphate|diphosphate|Pyrophosphate|mu-oxo-hexaoxodiphosphate|P2O7(4-) -4 O7P2 InChI=1S/H4O7P2/c1-8(2,3)7-9(4,5)6/h(H2,1,2,3)(H2,4,5,6)/p-4 XPPKVPWEQAFLFU-UHFFFAOYSA-J 173.94332 173.91412 [O-]P([O-])(=O)OP([O-])([O-])=O Gmelin:26938|KEGG:C00013|PDBeChem:DPO|CAS:14000-31-8 CHEBI:42009|CHEBI:13420 chebi_ontology owl:Class HP:0012380 biolink:NamedThing Reduced carnitine O-palmitoyltransferase level Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022921 peter 2013-10-15T09:00:17Z human_phenotype owl:Class N245b24e403f84eb7998872eef9dfb44a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb59dac5a668c4b599e5df199db1831dd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6b45a33fde0e468aaf5cadfca335d03c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc971c0e37f614a84b602d83100baf105 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0000173 biolink:NamedThing amniotic fluid Amniotic fluid is a bodily fluid consisting of watery liquid surrounding and cushioning a growing fetus within the amnion. It allows the fetus to move freely without the walls of the uterus being too tight against its body. Buoyancy is also provided. The composition of the fluid changes over the course of gestation. Initially, amniotic fluid is similar to maternal plasma, mainly water with electrolytes. As the fetus develops, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid. tmpxe7fu0cj_hp_relaxed.owl liquor amnii|acqua amnii GAID:1155|EV:0100123|EMAPA:36771|UMLS:C0002638|MESH:D000653|NCIT:C13188|MA:0002893|ENVO:02000021|BTO:0000068|VHOG:0001267|FMA:305905|CALOHA:TS-0034 uberon owl:Class N1da1f753132e4e559d6caeaae42b1d53 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne2c6cbd2b6764acf8aa682f742d17fb6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7c72283e284f46729e64e8beb0d5faf4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4da6661cacee4bdfa35e2d06a60be0af biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0200055 biolink:NamedThing Small hand Disproportionately small hand. tmpxe7fu0cj_hp_relaxed.owl Small hand|Small hands|Disproportionately small hands UMLS:C0575802|SNOMEDCT_US:299032009 sebastiankohler human_phenotype owl:Class N8cfcf06eb08a419494516678a9ddeb37 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N55248a2b998f4d449ffacf7c391e0955 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncf6e2400e61844fcb3d608f35738acaa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N63a4b1cde66f40d3838ed9557bb4b940 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb00ff998284042d2b9a8eb7705e5af28 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N12d5a2491cd24f75ba1fe0eccc5b04a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009042 biolink:NamedThing Marked muscular hypertrophy Severe hypertrophy (increase in size) of muscle cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1846013 human_phenotype owl:Class N37547c0cfefc4dc387a98052a2e3b7b8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9e47e2944ecf4d95b0588a998a8a1229 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ned0fd55e107b439b8dda9255476cadd0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N838a674f426d4a328b6e037b0a43fb7b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndfc375479ace441ebdd3bb8bc78a2842 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N44fc591036c54c11b93d87881c852b44 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N73cd43251ee64a57b6ff0db3afa460ff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne62f64b3621e47309d6465cd375fb771 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N17d3c01a96b746c39f55b6c870f862ff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndae88d29dc2a4e7884f9aa0f3f1c8f32 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N040732c929e2431dbcad2b5deb2e4282 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N80481993b66243518292a3558105846d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N45cca4bd1f8f4c10a393d63bb2b54270 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8b90852c9f7849c0931a9336840bf53a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3c54da59706640f1ba336bb927f33974 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf620978402d14793b051ce53180e485c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:24148 biolink:NamedThing galactonate tmpxe7fu0cj_hp_relaxed.owl 0 C6H11O7 195.148 195.05048 chebi_ontology owl:Class N52bae3d005d445c98bb25fe812040502 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfd92b98cf2b64f77b368a45c9e2581bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5a14758b60914e4f9f2fad2ffb9e64c7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5cac2b80333a4e0e96af98de5f7d2433 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N92aadbabb0334afdb33cfce0d290bedf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5676d63640c147ed8ce2da7bda54a6c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb4e80cfa19e74ff4ba462e84c9ea1fb1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N75f1ab2260e04b1c91b75081fc6ace78 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0f08f3bd31f14abb836ccd721021e516 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010706 biolink:NamedThing 1-3 finger syndactyly Syndactyly with fusion of fingers one to three. tmpxe7fu0cj_hp_relaxed.owl Webbed 1st-3rd finger UMLS:C4023730 sdoelken 2010-03-26T05:12:44Z owl:Class N718a4e34857249d88f5e990528ffcd13 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb60bbfdaf2e548eda7d51b37f5e71936 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0007723 biolink:NamedThing interphalangeal joint of manual digit 1 An interphalangeal joint of manus that is part of a manual digit 1. tmpxe7fu0cj_hp_relaxed.owl interphalangeal joint of hand digit 1|interphalangeal joint of manual digit I|interphalangeal joint of thumb|interphalangeal joint of first digit of hand|interphalangeal joint of manual digit 1|interphalangeal joint of pollex FMA:35312|EMAPA:25058|NCIT:C102306 uberon owl:Class in humans, this connects proximal and distal phalanges of the thumb, so there is only a single inter-phalangeal joint - i.e. there is no distinct proximal and distal joints HP:0006897 biolink:NamedThing Abducens palsy Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia. tmpxe7fu0cj_hp_relaxed.owl Cranial nerve VI palsy|Abducens nerve palsy|Lateral rectus muscle denervation paresis|Abducens nerve paresis|Abducens nerve paralysis|Sixth nerve palsy SNOMEDCT_US:398760006|SNOMEDCT_US:398963001|MSH:C564661|SNOMEDCT_US:398925009|UMLS:C0271355|MSH:D020434 Affected individuals may experience diplopia as well as esotropia or convergent strabismus. HP:0011349 owl:Class N68d51dc31f3d4035b6061033d7a022bc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7e38bca8c35043c9a142f16c8c45b939 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N56d3526af642444db9f9f62f936c31ad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd9d67e109bfa4e8cb181b867812c8bcd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N56d4eeb449ac4bb4a32353576b8b2079 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N81d9d9c2866542a387c59da689cada67 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N861680889bb44b39938ed80557c476a2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N29bd515cacbd4a16a75d4ee836af8fca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002480 biolink:NamedThing Hepatic encephalopathy Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. tmpxe7fu0cj_hp_relaxed.owl MSH:D006501|UMLS:C0019151|SNOMEDCT_US:449902003|SNOMEDCT_US:13920009 human_phenotype owl:Class Nd9c3bab0a26f4e0386730c3bfd4cb18a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb43d9ea39edd449ba617ecb18179c494 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N77ed5c74a4e5466bbff2669b905ced87 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc282cb6ace3742dfaa253521d82a384c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7120e9a9ce7045be8d79accfddc9ba02 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1508b1228a7e49aa831566e79a5029cf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9a5c7f64e0d54dc39747d8a477853411 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7ae6c98b0ce347689c4e048edb6fc460 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nac7442335ca74d1e8ffb5d1c0f04424b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N08c534cfd25c43869a57b5acbb04bb5f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3646212200ca4ca3a5dc213ce1e12179 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nae953a36f71e4cec8abcbfce6989c3ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0044403 biolink:NamedThing biological process involved in symbiotic interaction A process carried out by gene products in an organism that enable the organism to engage in a symbiotic relationship, a more or less intimate association, with another organism. The various forms of symbiosis include parasitism, in which the association is disadvantageous or destructive to one of the organisms; mutualism, in which the association is advantageous, or often necessary to one or both and not harmful to either; and commensalism, in which one member of the association benefits while the other is not affected. However, mutualism, parasitism, and commensalism are often not discrete categories of interactions and should rather be perceived as a continuum of interaction ranging from parasitism to mutualism. In fact, the direction of a symbiotic interaction can change during the lifetime of the symbionts due to developmental changes as well as changes in the biotic/abiotic environment in which the interaction occurs. Microscopic symbionts are often referred to as endosymbionts. tmpxe7fu0cj_hp_relaxed.owl symbiotic interaction between host and organism|symbiotic interaction between organisms|parasitism|symbiotic interaction between species|symbiotic process|symbiosis, encompassing mutualism through parasitism|symbiosis|commensalism|symbiotic interaction|host-pathogen interaction https://github.com/geneontology/go-ontology/issues/14807|https://github.com/geneontology/go-ontology/issues/20191 GO:0043298|GO:0044404|GO:0085031|GO:0072519 biological_process owl:Class Nf65839f8d2384128a9cf8c2ae6103051 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0151defde55f4879b1ace4105cb98fa1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5979950d51a64b47a0aab481d9edb540 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003727 biolink:NamedThing intercostal nerve The intercostal nerves are the anterior divisions (rami anteriores; ventral divisions) of the thoracic spinal nerves from T1 to T11. Each nerve is connected with the adjoining ganglion of the sympathetic trunk by a gray and a white ramus communicans. The intercostal nerves are distributed chiefly to the thoracic pleura and abdominal peritoneum and differ from the anterior divisions of the other spinal nerves in that each pursues an independent course without plexus formation. The first two nerves supply fibers to the upper limb in addition to their thoracic branches; the next four are limited in their distribution to the parietes of the thorax; the lower five supply the parietes of the thorax and abdomen. The 7th intercostal nerve terminates at the xyphoid process, at the lower end of the sternum. The 10th intercostal nerve terminates at the umbilicus. The twelfth thoracic is distributed to the abdominal wall and groin. [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl thoracic anterior ramus|ventral ramus of thoracic spinal nerve|nervi intercostales|anterior ramus of thoracic nerve|ramus anterior, nervus thoracicus|anterior ramus of thoracic spinal nerve NCIT:C32825|SCTID:279568001|GAID:858|EMAPA:18227|FMA:6028|UMLS:C1285089|MESH:D007367|Wikipedia:Intercostal_nerves http://upload.wikimedia.org/wikipedia/commons/b/b1/Gray819.png uberon owl:Class HP:0000978 biolink:NamedThing Bruising susceptibility An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. tmpxe7fu0cj_hp_relaxed.owl Bruise easily|Bruising susceptibility|Easy bruising|Easy bruisability|Bruisability MSH:D004438|SNOMEDCT_US:424131007|UMLS:C0423798|SNOMEDCT_US:302227002|SNOMEDCT_US:425075004|UMLS:C0013491|SNOMEDCT_US:77643000 An ecchymosis is defined as being larger than 1 cm in size. HP:0007433|HP:0000959|HP:0007472 human_phenotype owl:Class N52b3dbbe3a644641802472b8bd30d3bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd9e43c2ec894484e8e2b9cc5d27a799c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne2479e5ecdd542c8b2d11253ffde5751 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:58419 biolink:NamedThing 4-hydroxy-L-proline zwitterion The amino acid zwitterion formed from 4-hydroxy-L-proline. It is the major microspecies present at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl 4-hydroxy-L-proline|(2S)-4-hydroxypyrrolidinium-2-carboxylate 0 C5H9NO3 InChI=1S/C5H9NO3/c7-3-1-4(5(8)9)6-2-3/h3-4,6-7H,1-2H2,(H,8,9)/t3?,4-/m0/s1 PMMYEEVYMWASQN-BKLSDQPFSA-N 131.12990 131.05824 OC1C[NH2+][C@@H](C1)C([O-])=O chebi_ontology owl:Class N1250e4a38d364aeda80ddda3a41d15f7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc13c2561a9c1440f8e9f246d52bf578c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5c8137980c0d434e8d8eb04e12cbeae5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0031975 biolink:NamedThing envelope A multilayered structure surrounding all or part of a cell; encompasses one or more lipid bilayers, and may include a cell wall layer; also includes the space between layers. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class N6b6b71a80e4b4c9db1eb0555fa05d98e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N43f04a3b2e6845d7a4b600d13db523c0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9c29c0a621b94a71b308b5486cb1451b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N11274c7af8af466cafeb5dd8f9f37aae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfe6c8b7b29604c009037c5b103417cfc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndc6dfda0fd5948c38a8b358fac668e27 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100293 biolink:NamedThing Muscle fiber hypertrophy tmpxe7fu0cj_hp_relaxed.owl Muscle fibre hypertrophy UMLS:C0333759|SNOMEDCT_US:42091004 doelkens 2010-08-10T01:57:00Z human_phenotype owl:Class N7f7540f87cf04a458f37d8983f585552 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5940fda784e047dcb42510952b30edfa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004407 biolink:NamedThing distal epiphysis of radius A distal epiphysis that is part of a radius [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl lower end of radius|distal end of radius FMA:33776 uberon owl:Class N56aff75f16ee4bbebbe0e112404b93b0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb69b95cda1f0445da67e051d0601e04e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5759a8c7872e413fbd945b1be4286836 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nafe1ea21fb7b409d85ba0001cc76662b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N263c22e24c2449ac928a2975900793e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nba16077b18b045d0840bc822e1f0e44c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N48611b66c61942a2bb68623ae106036e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc9b48b9de44c4b7183a20cd8f6761cd4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N53125fc8abf7406888fb66f5683bf3f9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5e306ba2af8247cf928b6fd9d22cfc7b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8b5f4aa7138d4e1b86023df08e477ebb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0001960 biolink:NamedThing negative regulation of cytokine-mediated signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the cytokine mediated signaling pathway. tmpxe7fu0cj_hp_relaxed.owl negative regulation of cytokine mediated signalling pathway|downregulation of cytokine mediated signaling pathway|down regulation of cytokine mediated signaling pathway|down-regulation of cytokine mediated signaling pathway|negative regulation of cytokine and chemokine mediated signaling pathway|inhibition of cytokine mediated signaling pathway|negative regulation of cytokine mediated signaling pathway biological_process owl:Class GO:0030660 biolink:NamedThing Golgi-associated vesicle membrane The lipid bilayer surrounding a vesicle associated with the Golgi apparatus. tmpxe7fu0cj_hp_relaxed.owl Golgi vesicle membrane cellular_component owl:Class N838518c6a68a4f6bbdde62a97f9ec48b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006156 biolink:NamedThing Ulnar deviation of thumb Bending or curvature of a thumb towards the ulnar side (towards the ring finger). tmpxe7fu0cj_hp_relaxed.owl Curved thumb deviated towards palm|Ulnar deviation of the 1st finger SNOMEDCT_US:299137000|UMLS:C4280465|UMLS:C0575904 human_phenotype owl:Class Nadadaf4ae3fd45638741597fdf0ba937 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0070295 biolink:NamedThing renal water absorption tmpxe7fu0cj_hp_relaxed.owl owl:Class N43a71b564049473f84ea8a88f655972d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc55c354905f14880b86d4d2db5723c95 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd7bd790a248341828dae6f2606a474db biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na3fc290deb264df5b871eddc4d3275b3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf82ee8d66fef4c0ebc52a35680bd90a0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne5af6a5248b0403e8d2d08aa90ffff17 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9d988f8788a849b8b291eb98fb923d21 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7b604b14cbff4b9894b91891ef8f0043 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030292 biolink:NamedThing Tibial metaphyseal irregularity Irregularity of the normally smooth surface of a metaphysis of a tibia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022533 owl:Class Nfb2b2cff1f404dcca74c42da850ad69a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N50aeccbad75449eaba250d5e7daf25ff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500218 biolink:NamedThing Abnormal CSF tryptophan concentration Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal tryptophan levels in cerebrospinal fluid 2019-02-25 19:44:06+00:00 owl:Class N85cd59573e4e4b62b0fa2465cec3a741 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf2428088401343ecbade6b838e1f767c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb3c749a5f7cf4b28b61226078ced8edd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N41acc3294227471a874f29515fc82c31 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7e12e65950da4f3f9a9594c82dbd6e35 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na3e9f1b495a14477afd9e72406db9663 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040044 biolink:NamedThing Hypoplasia of the diaphragm tmpxe7fu0cj_hp_relaxed.owl Underdeveloped diaphragm UMLS:C4022473 HPO:skoehler owl:Class N9763f0d4109f4e4f88db8b8007836750 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N65f9ec9801434707be561cf8b5cde141 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne5d07e8086954d4c83d8682aed6d1404 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na65237c43d164557b0df26ef2713d2a4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2c9ec90383114c8581b65d6147fa2b91 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0031947 biolink:NamedThing Tongue tremor An unintentional, oscillating to-and-fro muscle movement affecting the tongue. tmpxe7fu0cj_hp_relaxed.owl Jerky movements of the tongue 2018-07-06 12:11:14+00:00 peter owl:Class Ncd688bc954dd463ea285bd5cf57fe17f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003759 biolink:NamedThing Hypoplasia of lymphatic vessels Congenital underdevelopment of lymph vessels. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped lymphatic vessels UMLS:C4025570 This feature can be demonstrated by lymphography. owl:Class N80478f9e21c24a74b9f6c531b00e6428 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004044 biolink:NamedThing Pointed ulnar metaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025420 human_phenotype owl:Class N5d11c19cd2a24f108ba229b5375b3c98 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd9b97543d3d74450bf590abbe6784d69 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N57c722ad89b74e6bba21e5b4c67bba9b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf6bfb36e161149309c1c1e0ab520e6e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0a12fb0edff1480e80a7b053170fb2ca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4a40078c45aa45ffbeb0b0bd66678306 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N85f53b83c77740ff98308344f12d9d8a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naef25459387a4ae28944ff21337bafd9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N75c3c905390f476fbbc57b6523630740 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4c355589a8924e4abf7d900f61acd73b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N402544ec6a714290a382b16764cdbaa2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb9743de1aa6d4e1991a7359c3a605dee biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1901162 biolink:NamedThing primary amino compound biosynthetic process The chemical reactions and pathways resulting in the formation of primary amino compound. tmpxe7fu0cj_hp_relaxed.owl primary amino compound anabolism|primary amino compound synthesis|primary amino compound biosynthesis|primary amino compound formation bf 2012-07-18T04:45:14Z biological_process owl:Class Nadf2490099834aab8e052a0a7f7c21af biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd556b82e53b84531a137bb7c61b0de24 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4258d71a629f422782d6d97be9928e22 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N11efb8e32e444da8866ad44371542619 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1b4860dcf4ff4afc8621508993b97ee8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N07cfbc21fdd548a097f477074260a48c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2ce5ffb0ad78486ba27a3757735d14ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na91c6c057e304ed1876ac54146063769 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004582 biolink:NamedThing Irregularity of vertebral bodies tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025311 human_phenotype owl:Class Ne5a01016498d4b47be2e49db0b1092b4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1d4dbfb0b6f74394bff25f2e75e78020 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011773 biolink:NamedThing upper jaw opening An anatomical space that is part of a bone of upper jaw. tmpxe7fu0cj_hp_relaxed.owl AAO:0000621 uberon owl:Class N6e15d5d3571a4aa89dbd18f9fde8127c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3afc4eaa0927447f859fa094bbe8c9ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003268 biolink:NamedThing Argininuria A increased concentration of arginine in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine arginine levels UMLS:C4025635 Normal urinary arginine total (free and combined form) excretion is around 30 mg per 24 hours. human_phenotype owl:Class N46d0f98e676440a0a73e803ea680a4f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na8aa28c1bf5840adad5f20dfc39d3fca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N14776f5c9f0a458d8bac4ef23214bdb9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001504 biolink:NamedThing Metacarpal osteolysis tmpxe7fu0cj_hp_relaxed.owl Metacarpals osteolysis UMLS:C1854610 human_phenotype owl:Class N47b0b935efcd481fa7b735cff5a0acc2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne3b21aea93c64de4818d6f775d1ab8b3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N41a97d2778f74d378b2cd80cb6e4d52c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9554b5fa12684ec3b8f65034542ddb05 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021703 biolink:NamedThing locus ceruleus development The process whose specific outcome is the progression of the locus ceruleus over time, from its formation to the mature structure. The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic. tmpxe7fu0cj_hp_relaxed.owl locus caeruleus development|locus coeruleus development biological_process owl:Class HP:0010146 biolink:NamedThing Small epiphysis of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Small end part of the outermost bone of the big toe UMLS:C4024013 doelkens 2009-05-29T01:22:47Z human_phenotype owl:Class N125e98d58057493f9a82855f0f422bef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6a1f020e3f8a4e0c9af5839842420057 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na4677b21b26644b3b944ea35587e0138 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N92d58bf37cf743d083e5f57d947a9708 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne4848850de0a431dba980005d6b9f3d7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7fad2d8a849b4f55b4264f178758b406 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4b0bbeb3668d47d08ebaca3dfbebb50c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7fbb51f98588407d8cb52b6a6373196e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbb54b312845641218838ace8d9520dbe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5fe50dcc838b4b1ba7d1cb464cd86ed1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N78f197a4052448e0a949f81c874d413a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N76c03ebb044d4eefac20aae3420556f6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004852 biolink:NamedThing Reduced leukocyte alkaline phosphatase Decreased alkaline phosphatase measured within leukocytes. tmpxe7fu0cj_hp_relaxed.owl Low leukocyte alkaline phosphatase|Reduced leukocyte ALP UMLS:C1850780 human_phenotype owl:Class N07142b9b18114ec89a4a21f1e942a1e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N37a41930be784d33a1838a2e82f2724e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0018531 biolink:NamedThing female superficial inguinal ring A deep inguinal ring that is part of a female reproductive system. tmpxe7fu0cj_hp_relaxed.owl female external inguinal ring EMAPA:19174|MA:0003252 uberon owl:Class N335fd791609547deb2e8473daee5ecd6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd4abf4ad3db444d6a1dc7282d44d185f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne7d598fa7d1d4003bd5455693033bf9d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N979e934c4dc34c3bbc87581a15e60478 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0d8137a5d9bf466483e50d555fa54e58 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naa9278bc0e1246fca9021689e9f919c9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9869988ccaf44346815b9ef41d8fed0c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2721d32bd01d404cb078b9c04460b7db biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbccfbbac277a4a6dba1660dc86d183e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003296 biolink:NamedThing Hyperthreoninuria An increased concentration of threonine in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine threonine levels UMLS:C2673931 Normal urinary threonine total (free and combined form) excretion is around 50 mg per 24 hours. human_phenotype owl:Class N8142edd9a9084291a8193abfda11e7af biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N044b83520f3b4a82a280ac6fb203abaa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1fd3ded6ecca48ad91883f7f479301cf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004812 biolink:NamedThing B Acute Lymphoblastic Leukemia A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood. tmpxe7fu0cj_hp_relaxed.owl Pre-B-cell acute lymphoblastic leukemia|B Acute Lymphoblastic Leukaemia|Pre-B-cell acute lymphoblastic leukaemia human_phenotype owl:Class HP:0004972 biolink:NamedThing Elevated mean arterial pressure An abnormal increase in the average blood pressure in an individual during a single cardiac cycle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1840376 human_phenotype owl:Class HP:0031352 biolink:NamedThing Chest tightness An unpleasant sensation of tightness or pressure in the chest. tmpxe7fu0cj_hp_relaxed.owl Chest distress|Tightness in chest|Tightness of chest 2017-08-27 14:49:28+00:00 peter owl:Class HP:0032099 biolink:NamedThing Perioral radial furrowing The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976). tmpxe7fu0cj_hp_relaxed.owl 2018-11-04 11:17:31+00:00 peter owl:Class MPATH:254 biolink:NamedThing complex tumor Tumors showing multiple histological componants/differentiation. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0032556 biolink:NamedThing Circumoral cyanosis Persistent blue color of the skin that surrounds the mouth. tmpxe7fu0cj_hp_relaxed.owl Bluish around mouth 2019-06-14 10:53:39+00:00 Circumoral cyanosis may be a sign of peripheral or of central cyanosis. peter owl:Class HP:0030198 biolink:NamedThing Fatigable weakness of distal limb muscles A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022585 owl:Class HP:0025485 biolink:NamedThing Vaginal adenosis Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 16:40:27+00:00 Spontaneous vaginal adenosis appears to be a fairly common (present in about 10% of adult women) but mostly insignificant coincidental finding. In women prenatally exposed to diethylstilboestrol (DES), vaginal adenosis may arise in up to 90% and is associated with a high risk of vaginal carcinoma. HPO:probinson owl:Class HP:0003550 biolink:NamedThing Predominantly lower limb lymphedema Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1835228 human_phenotype owl:Class HP:0040183 biolink:NamedThing Encopresis tmpxe7fu0cj_hp_relaxed.owl Stool holding|Stool soiling UMLS:C2945606|SNOMEDCT_US:302690004 owl:Class HP:0034154 biolink:NamedThing Anti-Ki antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 14:11:40+00:00 peter owl:Class HP:0012222 biolink:NamedThing Arachnoid hemangiomatosis The presence of multiple hemangiomas in the arachnoid. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022998 peter 2013-03-30T07:17:01Z human_phenotype owl:Class HP:0100594 biolink:NamedThing Esophageal web Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:22395006|SNOMEDCT_US:19216006|UMLS:C0267080 doelkens 2010-12-27T04:51:07Z human_phenotype owl:Class HP:5000024 biolink:NamedThing Anti-mGluR1 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1). tmpxe7fu0cj_hp_relaxed.owl Anti-metabotropic glutamate receptor 1 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0040287 biolink:NamedThing Axial muscle atrophy tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-5316-1399 owl:Class HP:0032800 biolink:NamedThing Focal aware sensory seizure with vestibular features A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation. tmpxe7fu0cj_hp_relaxed.owl These seizures involve the parietal cortex, temporo-parieto-occipital junction or parieto-temporal cortex. peter owl:Class CHEBI:25046 biolink:NamedThing linear tetrapyrrole tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0030058 biolink:NamedThing Sickled erythrocytes An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains). tmpxe7fu0cj_hp_relaxed.owl UMLS:C2237347 owl:Class HP:0002149 biolink:NamedThing Hyperuricemia An abnormally high level of uric acid in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood uric acid level|Hyperuricaemia SNOMEDCT_US:35885006|UMLS:C0740394|MSH:D033461 human_phenotype owl:Class HP:0031213 biolink:NamedThing Elevated circulating 17-hydroxyprogesterone An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating 17-OHP 2017-07-02 11:21:36+00:00 An inherited deficiency of 21-hydroxylase leads to greatly increased serum concentrations of 17-hydroxyprogesterone (17-OHP), while the absence of cortisol synthesis causes an increase in adrenocorticotrophic hormone. Moderately increased levels of 17-OHP may indicate an 11-beta-hydroxylase deficiency. peter owl:Class GO:1905872 biolink:NamedThing negative regulation of protein localization to cell leading edge Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cell leading edge. tmpxe7fu0cj_hp_relaxed.owl down-regulation of protein localisation to cell leading edge|negative regulation of protein localisation in cell leading edge|downregulation of protein localisation in cell leading edge|negative regulation of protein localization in cell leading edge|downregulation of protein localization in cell leading edge|inhibition of protein localization to cell leading edge|down regulation of protein localisation in cell leading edge|downregulation of protein localization to cell leading edge|down regulation of protein localization to cell leading edge|inhibition of protein localisation to cell leading edge|inhibition of protein localisation in cell leading edge|down regulation of protein localisation to cell leading edge|inhibition of protein localization in cell leading edge|down regulation of protein localization in cell leading edge|down-regulation of protein localization in cell leading edge|negative regulation of protein localisation to cell leading edge|down-regulation of protein localisation in cell leading edge|down-regulation of protein localization to cell leading edge|downregulation of protein localisation to cell leading edge sl 2017-01-27T19:35:04Z biological_process owl:Class HP:0002312 biolink:NamedThing Clumsiness Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. tmpxe7fu0cj_hp_relaxed.owl Clumsiness SNOMEDCT_US:7006003|UMLS:C0233844 human_phenotype owl:Class HP:0002872 biolink:NamedThing Apneic episodes precipitated by illness, fatigue, stress Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress. tmpxe7fu0cj_hp_relaxed.owl Episodic apnea induced by febrile illness or stress UMLS:C3806462 human_phenotype owl:Class HP:0031905 biolink:NamedThing Increased total hemolytic complement activity An abnormally elevated total hemolytic complement activity in the circulation. tmpxe7fu0cj_hp_relaxed.owl 2018-05-19 15:27:17+00:00 peter owl:Class HP:0003526 biolink:NamedThing Orotic acid crystalluria Formation of crystals owing to an increased concentration of orotic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3278626 human_phenotype owl:Class MAXO:0000431 biolink:NamedThing MRI of the breast A medical examination performed using of magnetic resonance imaging to image the breast. tmpxe7fu0cj_hp_relaxed.owl breast magnetic resonance imaging|breast MRI|Nuclear magnetic resonance imaging of the breast 2019-05-19T20:39:14Z http://orcid.org/0000-0001-7941-2961 owl:Class HP:0032634 biolink:NamedThing Intratubular myoglobin cast Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0001530 biolink:NamedThing Mild postnatal growth retardation A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. tmpxe7fu0cj_hp_relaxed.owl Mild growth deficiency|Postnatal onset of mild growth retardation UMLS:C1835580|UMLS:C3550204 HP:0008917|HP:0008860 human_phenotype owl:Class PATO:0001600 biolink:NamedThing posteriorly rotated A rotation quality inhering in a bearer by virtue of being rotated towards the rear of organism. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0002930 biolink:NamedThing Impaired sensitivity to thyroid hormone Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone. tmpxe7fu0cj_hp_relaxed.owl Elevated serum levels of free thyroid hormone with nonsuppressed TSH|Thyroid hormone receptor defect|Thyroid hormone resistance|End-organ unresponsiveness to thyroid hormone|Resistance to thyroid hormone UMLS:C2940786|SNOMEDCT_US:111567006|SNOMEDCT_US:237560005|MSH:D018382|SNOMEDCT_US:237559000|SNOMEDCT_US:50375007 Impaired sensitivity to thyroid hormone may be accompanied by goiter and no clear symptoms and signs of thyrotoxicosis. The etiologies of this feature include defects in the thyroid hormone receptor, reduced cellular access of the biologically active thyroid hormone, T3 related to defects of thyroid hormone cell membrane transport, and a defect reducing the intracellular metabolism generating T3 from T4. HP:0008215|HP:0008262|HP:0008243 human_phenotype owl:Class HP:0410259 biolink:NamedThing Hepatopulmonary fusion Fusion of the liver with the lung. tmpxe7fu0cj_hp_relaxed.owl Hepatic pulmonary fusion 2018-10-19 21:35:39+00:00 owl:Class HP:0040167 biolink:NamedThing Facial papilloma tmpxe7fu0cj_hp_relaxed.owl Facial verruca|Facial wart SNOMEDCT_US:240533004|UMLS:C0343643 A very specific feature of Costello Syndrome owl:Class GO:0090168 biolink:NamedThing Golgi reassembly The reformation of the Golgi following its breakdown and partitioning contributing to Golgi inheritance. tmpxe7fu0cj_hp_relaxed.owl tb 2009-12-08T09:15:11Z biological_process owl:Class PATO:0001488 biolink:NamedThing cellular motility A cellular quality inhering in a cell by virtue of whether the bearer exhibits the ability to move spontaneously. tmpxe7fu0cj_hp_relaxed.owl Term should be obsoleted and the GO term cellular motility should be used instead. quality owl:Class HP:0003126 biolink:NamedThing Low-molecular-weight proteinuria Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). tmpxe7fu0cj_hp_relaxed.owl Tubular proteinuria UMLS:C1839606 human_phenotype owl:Class HP:0031915 biolink:NamedThing Stable This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time. tmpxe7fu0cj_hp_relaxed.owl 2018-07-01 21:31:19+00:00 peter owl:Class HP:0011680 biolink:NamedThing Single ventricle of indeterminate morphology tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023233 peter 2012-04-10T08:02:28Z human_phenotype owl:Class PATO:0001495 biolink:NamedThing notched A concave quality inhering in a bearer by virtue of the bearer's shape being a V-shaped cut. tmpxe7fu0cj_hp_relaxed.owl indented quality owl:Class NBO:0000043 biolink:NamedThing bonding behavior A behavior that occurs between two individuals, such as parent and child, and involves an emotional attachment that implies a special and focused relationship. tmpxe7fu0cj_hp_relaxed.owl forming of peer relationship 2011-04-14T01:03:39Z George Gkoutos behavior_ontology owl:Class CHEBI:15693 biolink:NamedThing aldose Aldehydic parent sugars (polyhydroxy aldehydes H[CH(OH)]nC(=O)H, n >= 2) and their intramolecular hemiacetals. tmpxe7fu0cj_hp_relaxed.owl an aldose|Aldose|aldoses 0 C2H4O2(CH2O)n KEGG:C01370|Wikipedia:Aldose CHEBI:22305|CHEBI:2561|CHEBI:13755 chebi_ontology owl:Class HP:0002070 biolink:NamedThing Limb ataxia A kind of ataxia that affects movements of the extremities. tmpxe7fu0cj_hp_relaxed.owl Appendicular ataxia UMLS:C0750937|MSH:D001259 Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways. owl:Class HP:0004309 biolink:NamedThing Ventricular preexcitation An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway. tmpxe7fu0cj_hp_relaxed.owl Preexcitation|Ventricular pre-excitation|Pre-excitation syndrome UMLS:C0559106|SNOMEDCT_US:195060002 Pre-excitation syndromes are generally caused by accelerated conduction along an accessory pathway, but in some cases there is accelerated conduction through the normal AV node. peter 2008-02-20T01:29:00Z HP:0006676 human_phenotype owl:Class HP:0004575 biolink:NamedThing Fusion of midcervical facet joints tmpxe7fu0cj_hp_relaxed.owl UMLS:C1847394 human_phenotype owl:Class PATO:0001816 biolink:NamedThing increased fatigability A fatigability which is relatively high. tmpxe7fu0cj_hp_relaxed.owl high fatigability quality owl:Class HP:0032277 biolink:NamedThing Lozenge-shaped umbilicus tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 21:47:25+00:00 An ovoid depression of the tissue that immediately surrounds the umbilicus, resulting in a lozenge-shaped depression encircling a slightly prominent (protruding) umbilicus. peter owl:Class HP:0034069 biolink:NamedThing Anti-parotid secretory protein antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein. tmpxe7fu0cj_hp_relaxed.owl Anti-PSP antibody positivity 2021-12-18 14:33:01+00:00 peter owl:Class HP:0001488 biolink:NamedThing Bilateral ptosis tmpxe7fu0cj_hp_relaxed.owl Drooping of both upper eyelids UMLS:C1865916 human_phenotype owl:Class HP:0010649 biolink:NamedThing Flat nasal alae An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae). tmpxe7fu0cj_hp_relaxed.owl Depressed nasal alae|Flat nasal alar cartilage UMLS:C4023759 peter 2010-02-25T10:01:47Z human_phenotype owl:Class HP:0005129 biolink:NamedThing Congenital hypertrophy of left ventricle tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855901 owl:Class CHEBI:36841 biolink:NamedThing 11-hydroxy steroid tmpxe7fu0cj_hp_relaxed.owl 11-hydroxy steroids chebi_ontology owl:Class HP:0030499 biolink:NamedThing Macular drusen Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula. tmpxe7fu0cj_hp_relaxed.owl Lipid accumulation in macula SNOMEDCT_US:247154004|UMLS:C0677628 owl:Class HP:0032149 biolink:NamedThing Breakthrough pain A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain. tmpxe7fu0cj_hp_relaxed.owl 2018-12-02 12:26:17+00:00 peter owl:Class HP:4000061 biolink:NamedThing Pancreatic alpha-cell hyperplasia A diffuse and specific increase in the number of alpha-cells. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 16:27:00+00:00 Alpha cells are glucagon-secreting endocrine cells in the pancreatic islets of the pancreas. robinp owl:Class HP:0031942 biolink:NamedThing Congenital absence of portal vein Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts. tmpxe7fu0cj_hp_relaxed.owl CAPV|Missing portal vein 2018-07-05 13:42:31+00:00 peter owl:Class HP:0007240 biolink:NamedThing Progressive gait ataxia A type of gait ataxia displaying progression of clinical severity. tmpxe7fu0cj_hp_relaxed.owl Gait ataxia, progressive UMLS:C1843885 HP:0002142 human_phenotype owl:Class HP:0410206 biolink:NamedThing Increased circulating nicotinurate level An increased amount of nicotinurate in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased circulating N-nicotinoylglycine level 2018-09-11 23:40:36+00:00 owl:Class HP:0033103 biolink:NamedThing Elevated circulating CHI3L1 level Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating chitinase 3-like 1 level|Elevated circulating YKL40 level Chitinase 3-like 1 (CHI3L1; previously known as YKL-40) is a glycoprotein with homology to the chitinase protein family, but without chitinase activity. Elevations of serum CHI3L1 can be measured by ELISA and are related to some kinds of bone disease. peter owl:Class HP:0025470 biolink:NamedThing Telogen effluvium A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 11:23:33+00:00 HPO:probinson owl:Class GO:0014821 biolink:NamedThing phasic smooth muscle contraction A process in which force is generated within phasic smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the phasic smooth muscle, the muscle contraction occurs without an ordered sarcomeric structure. Phasic smooth muscle contraction occurs in a series of discrete contractions and relaxations. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class GO:0045182 biolink:NamedThing translation regulator activity Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome. tmpxe7fu0cj_hp_relaxed.owl translation factor activity molecular_function owl:Class HP:0012178 biolink:NamedThing Reduced natural killer cell activity Reduced ability of the natural killer cell to function in the adaptive immune response. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839969 peter 2013-02-23T10:05:33Z human_phenotype owl:Class HP:0040140 biolink:NamedThing Degeneration of the striatum tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022417 HPO:skoehler owl:Class HP:0045050 biolink:NamedThing Increased DLCO Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. tmpxe7fu0cj_hp_relaxed.owl Increased diffusing capacity UMLS:C4073174 Factors that can increase the DLCO include polycythaemia, asthma (can also have normal DLCO) and increased pulmonary blood volume as occurs in exercise. Other factors are left to right intracardiac shunting, and alveolar hemorrhage. owl:Class HP:0002530 biolink:NamedThing Axial dystonia A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. tmpxe7fu0cj_hp_relaxed.owl Truncal dystonia UMLS:C1836149 owl:Class HP:0033760 biolink:NamedThing Decreased maximal oxygen uptake Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload. tmpxe7fu0cj_hp_relaxed.owl 2021-04-29 21:47:37+00:00 peter owl:Class HP:0033961 biolink:NamedThing Cortical radial artery intima/media multilamellation Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers. tmpxe7fu0cj_hp_relaxed.owl Cortical radial artery intima/media onion skinning|Multilamellation (onion skinning) within interlobular arterial intima/media 2021-06-24 12:38:03+00:00 peter owl:Class HP:0032866 biolink:NamedThing Oculoclonic status epilepticus A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033132 biolink:NamedThing Renal cortical hyperechogenicity Increased echogenecity of the kidney cortex. tmpxe7fu0cj_hp_relaxed.owl 2020-09-09 13:01:52+00:00 peter owl:Class HP:0034149 biolink:NamedThing Anti-phenylalanyl tRNA synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase. tmpxe7fu0cj_hp_relaxed.owl Phenylanyl-t-RNA synthetase alpha antibody positivity|Anti-Zo alpha antibody positivity|Anti-Zo antibody positivity 2021-12-23 14:02:04+00:00 peter owl:Class GO:0035261 biolink:NamedThing external genitalia morphogenesis The process in which the anatomical structures of the external genitalia are generated and organized. The external genitalia are the outer sex organs, such as the penis or vulva in mammals. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0004371 biolink:NamedThing Abnormality of glycosaminoglycan metabolism Abnormality of glycosaminoglycan metabolism. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025330 A glycosaminoglycan is any polysaccharide containing a substantial proportion of aminomonosaccharide residues. Glycosaminoglycan (GAG) are long unbranched polysaccharides consisting of a repeating disaccharide unit. Among the most common GAGs are chondroitin sulfate, dermatan sulfate, chondroitin sulfate, keratan sulfate, heparan sulfate, and hyaluronan. peter 2008-03-18T06:36:00Z human_phenotype owl:Class HP:0000635 biolink:NamedThing Blue irides A markedly blue coloration of the iris. tmpxe7fu0cj_hp_relaxed.owl Blue eyes UMLS:C0578626|SNOMEDCT_US:301952009 human_phenotype owl:Class HP:0007481 biolink:NamedThing Hyperpigmented nevi tmpxe7fu0cj_hp_relaxed.owl UMLS:C0746889 human_phenotype owl:Class HP:0030717 biolink:NamedThing Meconium peritonitis Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0270250|SNOMEDCT_US:57341009 owl:Class HP:0031274 biolink:NamedThing Hypovolemic shock A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 20:57:43+00:00 peter owl:Class HP:0004737 biolink:NamedThing Global glomerulosclerosis Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1865276 Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). owl:Class HP:0005517 biolink:NamedThing T-cell lymphoma/leukemia A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025186 T-cell lymphoma/leukemia is linked to infection by the human T-cell lymphotropic virus 1 (HTLV-1). human_phenotype owl:Class HP:0011317 biolink:NamedThing Right unicoronal synostosis Unicoronal synostosis affecting only the right coronal suture. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023416 peter 2012-02-25T01:11:21Z human_phenotype owl:Class HP:0033586 biolink:NamedThing Cellular non-specific interstitial pneumonia A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia. tmpxe7fu0cj_hp_relaxed.owl 2021-01-27 20:46:02+00:00 peter owl:Class HP:0008469 biolink:NamedThing Cervical vertebral dysplasia Dysplasia of the cervical vertebral column. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861693|MSH:C566140 human_phenotype owl:Class HP:0033562 biolink:NamedThing Anti-glycoprotein-210 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210. tmpxe7fu0cj_hp_relaxed.owl Anti-gp210 antibody positivity 2021-01-23 12:35:51+00:00 Anti-glycoprotein-210 antibody is an antibody directed against components of the nuclear membrane and is found in primary biliary cirrhosis. peter owl:Class HP:0012044 biolink:NamedThing Seesaw nystagmus Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0344243|SNOMEDCT_US:95782001|MSH:D009759 Seesaw nystagmus can be a manifestation of lesions of the optic chiasma. peter 2012-08-01T12:06:36Z human_phenotype owl:Class CHEBI:24500 biolink:NamedThing heparan tmpxe7fu0cj_hp_relaxed.owl heparans chebi_ontology owl:Class CHEBI:26191 biolink:NamedThing polyol A compound that contains two or more hydroxy groups. tmpxe7fu0cj_hp_relaxed.owl polyols chebi_ontology owl:Class HP:5000029 biolink:NamedThing Anti-PKCgamma antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma. tmpxe7fu0cj_hp_relaxed.owl Anti-Protein kinase C gamma antibody ORCID:0000-0002-3387-1836 owl:Class HP:0005788 biolink:NamedThing Abnormal cervical myelogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025135 human_phenotype owl:Class MAXO:0010217 biolink:NamedThing renal ultrasonography The use of ultrasound to produce images of structures in the kidney. tmpxe7fu0cj_hp_relaxed.owl kidney medical ultrasound|kidney sonography|kidney ultrasound examination|sonography of kidney|kidney ultrasound procedure|ultrasonography of kidney|kidney diagnostic sonography|kidney ultrasound imaging procedure 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-3010 owl:Class PATO:0000403 biolink:NamedThing cleft A concave quality inhering in a bearer by virtue of the bearer's resembling a groove or fissure. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0020060 biolink:NamedThing Decreased red blood cell count An abnormal reduction below the normal number of red blood cells per volume in the circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased RBC count 2018-09-28 23:46:01+00:00 robinp owl:Class GO:0140513 biolink:NamedThing nuclear protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together in the nucleus. tmpxe7fu0cj_hp_relaxed.owl nuclear complex pg 2020-09-09T05:12:38Z cellular_component owl:Class HP:0003656 biolink:NamedThing Decreased beta-glucocerebrosidase level Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose. tmpxe7fu0cj_hp_relaxed.owl Decreased lysosomal acid glucosylceramidase activity UMLS:C1842710 An enzyme that hydrolyzes beta-glucosides in cerebrosides. human_phenotype owl:Class HP:0008605 biolink:NamedThing Unilateral external ear deformity tmpxe7fu0cj_hp_relaxed.owl Deformed external ear on one side UMLS:C1834043 human_phenotype owl:Class HP:0032469 biolink:NamedThing Anti-asialoglycoprotein receptor antibody positivity Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 10:39:31+00:00 Asialoglycoprotein receptor (ASGPR) is a C-type lectin, primary expressed on the sinusoidal surface of the hepatocyte. ASGPR autoantibodies is considered specific markers of autoimmune hepatitis. peter owl:Class HP:0100358 biolink:NamedThing Contracture of the metatarsophalangeal joint of the 4th toe The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022127 owl:Class CHEBI:22478 biolink:NamedThing amino alcohol An alcohol containing an amino functional group in addition to the alcohol-defining hydroxy group. tmpxe7fu0cj_hp_relaxed.owl amino alcohols|aminoalcohol|aminoalcohols chebi_ontology owl:Class HP:0006394 biolink:NamedThing Limited pronation/supination of forearm A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation). tmpxe7fu0cj_hp_relaxed.owl Limited pronation/supination of forearm UMLS:C1861331 human_phenotype owl:Class HP:0005425 biolink:NamedThing Recurrent sinopulmonary infections An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. tmpxe7fu0cj_hp_relaxed.owl Recurrent sinus and lung infections|Chronic sinopulmonary infection UMLS:C1846546 human_phenotype owl:Class HP:0005304 biolink:NamedThing Hypoplastic pulmonary veins tmpxe7fu0cj_hp_relaxed.owl Underdeveloped lung veins UMLS:C1970501 human_phenotype owl:Class HP:0012847 biolink:NamedThing Epilepsia partialis continua Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years). tmpxe7fu0cj_hp_relaxed.owl Kozhevnikov's epilepsia|Epilepsia partialis continua of Kojevnikov|Kojevnikov's epilepsia MSH:D017036|SNOMEDCT_US:241006|UMLS:C0085543 The focal motor features may exhibit a Jacksonian march and a post-ictal (Todd's) paresis may be seen in the affected body part. peter 2014-06-06T08:09:22Z human_phenotype owl:Class UBERON:0003482 biolink:NamedThing vein of trabecular bone A portion of vein that is part of a trabecular bone tissue [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl vein of spongy bone|trabecular bone vein|vein of trabecular bone tissue|spongy bone vein|trabecular bone tissue vein MA:0002254|EMAPA:37203 uberon owl:Class BFO:0000034 biolink:NamedThing function tmpxe7fu0cj_hp_relaxed.owl Function function BFO 2 Reference: In the past, we have distinguished two varieties of function, artifactual function and biological function. These are not asserted subtypes of BFO:function however, since the same function – for example: to pump, to transport – can exist both in artifacts and in biological entities. The asserted subtypes of function that would be needed in order to yield a separate monoheirarchy are not artifactual function, biological function, etc., but rather transporting function, pumping function, etc. A function is a disposition that exists in virtue of the bearer’s physical make-up and this physical make-up is something the bearer possesses because it came into being, either through evolution (in the case of natural biological entities) or through intentional design (in the case of artifacts), in order to realize processes of a certain sort. (axiom label in BFO2 Reference: [064-001]) the function of a heart pacemaker to regulate the beating of a heart through electricity|the function of amylase in saliva to break down starch into sugar|the function of a hammer to drive in nails (forall (x) (if (Function x) (Disposition x))) // axiom label in BFO2 CLIF: [064-001] owl:Class HP:0100158 biolink:NamedThing Bracket epiphysis of the proximal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the innermost bone of 3rd toe UMLS:C4022263 doelkens 2010-06-24T10:24:45Z human_phenotype owl:Class HP:0032389 biolink:NamedThing Periventricular laminar heterotopia A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 16:00:54+00:00 peter owl:Class HP:0008043 biolink:NamedThing Retinal arteriolar constriction Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina. tmpxe7fu0cj_hp_relaxed.owl Narrow retinal arterioles|Constricted retinal arterioles|Retinal arteriolar narrowing UMLS:C2176208 Usually after the first branch, the retinal arteries contain no elastic fibers and the term retinal arteriole is more appropriate. The main changes seen in diseases such as hypertension affect mainly the retinal arterioles rather than the retinal artery. HP:0008510|HP:0007952 human_phenotype owl:Class HP:4000046 biolink:NamedThing Oblique fracture A type of fracture in which there is a diagonal break across the bone. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 20:51:13+00:00 robinp owl:Class HP:0100952 biolink:NamedThing Enlarged sylvian cistern An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure). tmpxe7fu0cj_hp_relaxed.owl Enlarged lateral fissure|Enlarged sylvian fissure|Enlarged lateral sulcus UMLS:C4020921 doelkens 2011-12-02T04:47:51Z owl:Class HP:0007885 biolink:NamedThing Slowed horizontal saccades An abnormally slow velocity of horizontal saccadic eye movements. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856477 Saccades are rapid eye movements that align the fovea with the target. human_phenotype owl:Class HP:0000514 biolink:NamedThing Slow saccadic eye movements An abnormally slow velocity of the saccadic eye movements. tmpxe7fu0cj_hp_relaxed.owl Slow eye movements|Slow saccades|Slow visual tracking SNOMEDCT_US:404686001|UMLS:C1321329 Saccades are rapid eye movements that align the fovea with the target. human_phenotype owl:Class HP:0033423 biolink:NamedThing Pulmonary arterial hypertension with positive acute response to NO challenge A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 17:33:05+00:00 peter owl:Class GO:0060761 biolink:NamedThing negative regulation of response to cytokine stimulus Any process that decreases the rate, frequency, or extent of a response to cytokine stimulus. tmpxe7fu0cj_hp_relaxed.owl dph 2009-06-22T02:59:57Z biological_process owl:Class HP:0009939 biolink:NamedThing Mandibular aplasia Absence of the mandible. tmpxe7fu0cj_hp_relaxed.owl Absence of lower jaw bone|Missing lower jaw|Failure of development of mandible|Absence of lower jaw bones|Absence of mandible|Aplasia of the lower jaw bone|Absence of lower jaw|Agnathia|Failure of development of lower jaw|Agenesis of the mandible|Absent mandible UMLS:C4021371|SNOMEDCT_US:91922000|SNOMEDCT_US:91896009|UMLS:C0685776|UMLS:C0685775 peter 2009-05-10T11:27:14Z human_phenotype owl:Class HP:0003357 biolink:NamedThing Thymic hormone decreased A reduction in the level of thymic horomone. tmpxe7fu0cj_hp_relaxed.owl Decreased thymic hormone UMLS:C1857652 owl:Class HP:0007068 biolink:NamedThing Inferior vermis hypoplasia Underdevelopment of the inferior portion of the vermis of cerebellum. tmpxe7fu0cj_hp_relaxed.owl Hypoplasia of inferior vermis UMLS:C1855350 HP:0005724 human_phenotype owl:Class HP:0500021 biolink:NamedThing Reduced brain gamma-aminobutyric acid level by MRS An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl 2017-05-18 19:29:53+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0030505 biolink:NamedThing Nummular pigmentation of the fundus Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium. tmpxe7fu0cj_hp_relaxed.owl Nummular pigmentation of the retina UMLS:C4072990 owl:Class HP:0033803 biolink:NamedThing Blistering with sub-lamina densa plane of cleavage A type of blistering in which the cleavage plane of blisters is located below the lamina densa. tmpxe7fu0cj_hp_relaxed.owl 2021-05-08 15:00:31+00:00 peter owl:Class HP:0030550 biolink:NamedThing Unaided visual acuity 3.0 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073024 owl:Class HP:0012792 biolink:NamedThing Absent ossification of thoracic vertebral bodies A lack of bone mineralization of one or more body of thoracic vertebra. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022721 peter 2014-04-24T11:05:14Z human_phenotype owl:Class HP:0033666 biolink:NamedThing Diminished physical functioning A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning. tmpxe7fu0cj_hp_relaxed.owl Diminished physical health|Decline in physical functional health 2021-02-28 14:50:02+00:00 peter owl:Class UBERON:0014398 biolink:NamedThing respiratory muscle Muscle that is part of the respiratory system. tmpxe7fu0cj_hp_relaxed.owl this class may be merged with 'respiratory system muscle'; check intercostals uberon owl:Class HP:0500203 biolink:NamedThing Increased CSF arginine concentration Abnormally increased levels of arginine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High arginine levels in cerebrospinal fluid 2019-02-25 17:12:38+00:00 owl:Class HP:0033073 biolink:NamedThing Urate tophus Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi. tmpxe7fu0cj_hp_relaxed.owl Urate tophi peter owl:Class UBERON:0010891 biolink:NamedThing pectoral complex muscle A muscle of a pectoral girdle, pectoral fin or anterior limb. tmpxe7fu0cj_hp_relaxed.owl muscle of pectoral girdle and wing|pectoral girdle and fore limb muscles|muscle of upper limb|upper limb muscle|muscle of pectoral girdle and limb MA:0000615|AAO:0010687|FMA:9621|EMAPA:32624 the MA class belongs here, based on its current child classes uberon owl:Class Muscles of the pectoral girdle, arm, forearm, and hand (brachium, antebrachium, manus respectively).[AAO] HP:0011695 biolink:NamedThing Cerebellar hemorrhage Hemorrhage into the parenchyma of the cerebellum. tmpxe7fu0cj_hp_relaxed.owl Cerebellar haemorrhage UMLS:C0149854|SNOMEDCT_US:75038005 peter 2012-04-10T10:46:25Z human_phenotype owl:Class HP:0031046 biolink:NamedThing Absent soft palate A developmental defect characterized by lack of a soft palate. tmpxe7fu0cj_hp_relaxed.owl Agenesis of the soft palate 2017-05-27 14:06:10+00:00 peter owl:Class HP:0045048 biolink:NamedThing Increased HbA2 hemoglobin An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia. tmpxe7fu0cj_hp_relaxed.owl Increased hemoglobin A2|Increased haemoglobin A2|Increased HbA2 haemoglobin UMLS:C4073172 owl:Class HP:0002166 biolink:NamedThing Impaired vibration sensation in the lower limbs A decrease in the ability to perceive vibration in the legs. tmpxe7fu0cj_hp_relaxed.owl Diminished vibratory sensation in the legs|Impaired vibration sensation in the lower limbs|Distal sensory loss, especially vibratory sense|Distal vibratory impairment of the lower limbs|Decreased lower limb vibratory sense|Decreased vibratory sense in the lower extremities|Decreased vibratory sense in the lower limbs|Decreased vibratory sense in lower limbs UMLS:C1849134 human_phenotype owl:Class HP:0032410 biolink:NamedThing Bilateral generalized polymicrogyria Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter. tmpxe7fu0cj_hp_relaxed.owl Diffuse polymicrogyria|Bilateral generalised polymicrogyria 2019-02-24 21:11:36+00:00 peter owl:Class HP:0031743 biolink:NamedThing Inferior rectus muscle overaction Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:09:20+00:00 peter owl:Class CHEBI:33286 biolink:NamedThing agrochemical An agrochemical is a substance that is used in agriculture or horticulture. tmpxe7fu0cj_hp_relaxed.owl agrochemicals|agrichemical|agrichemicals|agricultural chemicals Wikipedia:Agrochemical chebi_ontology owl:Class HP:0005973 biolink:NamedThing Fructose intolerance Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance. tmpxe7fu0cj_hp_relaxed.owl Fructose malabsorption SNOMEDCT_US:20052008|UMLS:C0016751|MSH:D005633 owl:Class HP:0007069 biolink:NamedThing Profound static encephalopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024944 human_phenotype owl:Class HP:0000627 biolink:NamedThing Posterior embryotoxon A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. tmpxe7fu0cj_hp_relaxed.owl Embryotoxon UMLS:C0344531|SNOMEDCT_US:392437005|UMLS:C0546967|SNOMEDCT_US:253228006 Schwalbe's line is the anatomical line found on the interior surface of the cornea, and delineates the outer limit of the corneal endothelium layer. Specifically, it represents the termination of Descemet's membrane. Up to 30% of the population has posterior embryotoxon as an isolated normal variant. HP:0100740 human_phenotype owl:Class HP:0030060 biolink:NamedThing Nervous tissue neoplasm A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system). tmpxe7fu0cj_hp_relaxed.owl MSH:D009380|UMLS:C0027665 owl:Class HP:0033352 biolink:NamedThing Pulmonary hypertensive crisis Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output. tmpxe7fu0cj_hp_relaxed.owl Pulmonary arterial hypertension crisis 2020-11-30 22:31:06+00:00 peter owl:Class HP:0004941 biolink:NamedThing Extrahepatic portal hypertension Increased pressure in the pre-hepatic portal vein. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025268 Hypertension in the portal venous tree proper. previous def: 'has part' some ('increased pressure' and ('inheres in' some ('arterial blood' and ('part of' some 'Pre-hepatic portal vein (adult human)'))) and ('has modifier' some abnormal)) human_phenotype owl:Class NBO:0000623 biolink:NamedThing echolalia "Stereotypic behavior characterised by a tendency to repeat vocalizations." [NBO:GVG] HP:0010529 tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T05:20:29Z George Gkoutos behavior_ontology owl:Class NBO:0000567 biolink:NamedThing stereotypic behavior "A pathological behavior associated with repetitive or ritualistic movement, posture, or utterance." [wikipedia:Stereotypy] HP:0000733|MP:0001408 tmpxe7fu0cj_hp_relaxed.owl stereotypic behaviour|stereotypy 2011-04-14T08:28:29Z George Gkoutos behavior_ontology owl:Class HP:0010882 biolink:NamedThing Pulmonary valve atresia A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:448564004|MSH:D018633|Fyler:1001|UMLS:C0242855|SNOMEDCT_US:204342004 peter 2010-09-20T11:08:09Z human_phenotype owl:Class HP:0006944 biolink:NamedThing Abolished vibration sense A complete loss of the ability to perceive vibration. tmpxe7fu0cj_hp_relaxed.owl Apallesthesia UMLS:C1837520 owl:Class HP:0007414 biolink:NamedThing Neonatal wrinkled skin of hands and feet tmpxe7fu0cj_hp_relaxed.owl Wrinkled skin of hands and feet in newborn UMLS:C4024884 human_phenotype owl:Class HP:0033289 biolink:NamedThing Glomerular basement membrane wrinkling Irregular folding of the glomerular basement membrane with an intact lamina densa. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 21:18:45+00:00 Wrinkling and folding of the glomerular basement membrane (GBM) without glomerular epithelial cell hypertrophy and hyperplasia (formerly known an ischemic type of collapse). The urinary space is patent. The wrinkling is generally made by small regular infoldings of the GBM. peter owl:Class HP:0012596 biolink:NamedThing Moderate proteinuria Moderately increased levels of protein in the urine (500-1000 mg per day in adults). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022831 peter 2014-01-16T05:56:26Z human_phenotype owl:Class HP:0032088 biolink:NamedThing Aortic smooth muscle cell disorganization Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells. tmpxe7fu0cj_hp_relaxed.owl Aortic smooth muscle cell disorganisation 2018-10-14 15:04:49+00:00 peter owl:Class UBERON:0006957 biolink:NamedThing submandibular gland primordium epithelium An epithelium that is part of a submandibular gland primordium. tmpxe7fu0cj_hp_relaxed.owl submaxillary gland primordium epithelium EHDAA2:0001940|EMAPA:17756|EHDAA:9257 uberon owl:Class HP:0031070 biolink:NamedThing Decreased femoral torsion Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 22:59:52+00:00 peter owl:Class HP:0010877 biolink:NamedThing Monocular strabismus A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times. tmpxe7fu0cj_hp_relaxed.owl Unilateral strabismus UMLS:C4023678 peter 2010-09-08T10:47:57Z human_phenotype owl:Class HP:0030632 biolink:NamedThing Hypoautofluorescent macular lesion Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. tmpxe7fu0cj_hp_relaxed.owl Hypo-autofluorescent macular lesion UMLS:C4073102 owl:Class HP:0025311 biolink:NamedThing Anterior chamber cyst A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material. tmpxe7fu0cj_hp_relaxed.owl 2016-12-21 01:32:14+00:00 HPO:probinson owl:Class HP:0030369 biolink:NamedThing Induced vaginal delivery Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072908 owl:Class HP:0025681 biolink:NamedThing Distal clavicular thinning Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0030412 biolink:NamedThing Ileal adenocarcinoma A malignant epithelial tumor with a glandular organization that originates in the ileum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072936|NCIT:C2852 human_phenotype owl:Class HP:0033330 biolink:NamedThing Impaired neck-righting reflex Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 16:23:48+00:00 peter owl:Class HP:0033329 biolink:NamedThing Abnormal postural reflex Anomaly of the physiological response to maintain the body's posture when movement and position is altered. tmpxe7fu0cj_hp_relaxed.owl Abnormal postural reaction 2020-11-29 16:11:38+00:00 The primitive reflexes and the postural reactions comprise one of the earliest, simplest, and most frequently used tools among child neurologists to assess the central nervous system integrity of infants and young children. Infants with cerebral palsy have been known to manifest persistence or delay in the disappearance of primitive reflexes and pathologic or absent postural reactions. Primitive reflexes develop prenatally, are present at birth in the full-term neonate. Postural reflexes emerge after birth and take up to three and a half years to be fully developed. peter owl:Class HP:0430012 biolink:NamedThing Incomplete ossification of palatine bone Failure to complete ossification (maturation and calcification) of the palatine bone. tmpxe7fu0cj_hp_relaxed.owl Incomplete mineralization of palatine bone|Incomplete calcification of palatine bone|Incomplete formation of palatine bone SNOMEDCT_US:93595006|UMLS:C0685213 owl:Class HP:0010543 biolink:NamedThing Opsoclonus Bursts of large-amplitude multidirectional saccades without intersaccadic interval tmpxe7fu0cj_hp_relaxed.owl UMLS:C0242567|MSH:D015835|SNOMEDCT_US:194177006 Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude. peter 2009-09-23T10:40:51Z human_phenotype owl:Class HP:0100754 biolink:NamedThing Mania A state of abnormally elevated or irritable mood, arousal, and or energy levels. tmpxe7fu0cj_hp_relaxed.owl Manic UMLS:C0338831|SNOMEDCT_US:231494001|MSH:D001714 doelkens 2011-06-07T09:54:05Z human_phenotype owl:Class PATO:0001201 biolink:NamedThing Y-shaped A concave 3-D shape quality inhering in a bearer by virtue of the bearer's being shaped in the form of the letter Y. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0000214 biolink:NamedThing Lip telangiectasia Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. tmpxe7fu0cj_hp_relaxed.owl Labial angioectasias|Labial telangiectasia|Telangiectasia of the lips|Spider veins of the lip|Lip telangiectases|Angioectasias of the lip UMLS:C4280671|UMLS:C1857697|UMLS:C4280670 human_phenotype owl:Class HP:0100862 biolink:NamedThing Aplasia of the femoral head tmpxe7fu0cj_hp_relaxed.owl Absent femoral head UMLS:C4021950 doelkens 2011-11-30T10:47:46Z human_phenotype owl:Class HP:0009348 biolink:NamedThing Cone-shaped epiphysis of the proximal phalanx of the 3rd finger A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the innermost bone of the middle finger UMLS:C4024420 doelkens 2009-01-12T11:19:03Z human_phenotype owl:Class HP:0004374 biolink:NamedThing Hemiplegia/hemiparesis Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. tmpxe7fu0cj_hp_relaxed.owl Paralysis or weakness of one side of body UMLS:C0375206 peter 2008-03-18T07:35:00Z owl:Class HP:0033394 biolink:NamedThing Anti-carbonic anhydrase II antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II. tmpxe7fu0cj_hp_relaxed.owl 2021-01-06 12:53:59+00:00 peter owl:Class HP:0033841 biolink:NamedThing Ocular pruritus Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye. tmpxe7fu0cj_hp_relaxed.owl Ocular itch|Itchy eyes 2021-05-30 16:32:42+00:00 peter owl:Class HP:0008425 biolink:NamedThing Cuboid-shaped thoracolumbar vertebral bodies tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855289 human_phenotype owl:Class HP:0031444 biolink:NamedThing Dilatation of the tricuspid annulus An increase in the diameter of the ring (annulus) of the tricuspid valve. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 13:52:05+00:00 peter owl:Class HP:0031441 biolink:NamedThing Abnormal tricuspid valve annulus morphology Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 13:06:49+00:00 peter owl:Class HP:0012818 biolink:NamedThing Biventricular noncompaction cardiomyopathy Noncompaction cardiomyopathy that affects both ventricles. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022713 hecht 2014-05-28T08:49:23Z human_phenotype owl:Class HP:0041056 biolink:NamedThing Hot cross bun sign A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI). tmpxe7fu0cj_hp_relaxed.owl It is commonly associated with atrophy of the pons, cerebellum, and putamen in multiple system atrophy (MSA). owl:Class UBERON:0003284 biolink:NamedThing mesentery of midgut A mesentery that is part of a midgut [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl midgut mesentery EHDAA2:0001202|EMAPA:16721|EMAPA:17039|VHOG:0000413|EMAPA:17197|EHDAA:3031 uberon owl:Class Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] HP:0006150 biolink:NamedThing Swan neck-like deformities of the fingers A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849152 human_phenotype owl:Class HP:0001709 biolink:NamedThing Third degree atrioventricular block Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them. tmpxe7fu0cj_hp_relaxed.owl Complete heart block|Third-degree heart block SNOMEDCT_US:27885002|UMLS:C0151517 owl:Class HP:0007233 biolink:NamedThing Clusters of axonal regeneration Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843169 human_phenotype owl:Class HP:0003450 biolink:NamedThing Axonal regeneration The presence of axonal regeneration following a previous axonal lesion. tmpxe7fu0cj_hp_relaxed.owl Regenerative activity on nerve biopsy UMLS:C1854454 This finding is typically demonstrated by nerve biopsy. See the comment of term HP:0003378 for further information. human_phenotype owl:Class HP:0006992 biolink:NamedThing Anterior basal encephalocele tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850961 human_phenotype owl:Class HP:0032326 biolink:NamedThing Methicillin-resistant Staphylococcus aureus infection Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection. tmpxe7fu0cj_hp_relaxed.owl MRSA infection 2019-02-14 12:04:53+00:00 peter owl:Class HP:0031030 biolink:NamedThing Elevated carcinoma antigen 125 level An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer. tmpxe7fu0cj_hp_relaxed.owl Increased plasma CA125 2017-05-27 10:54:15+00:00 peter owl:Class HP:0007099 biolink:NamedThing Chiari type I malformation Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line) tmpxe7fu0cj_hp_relaxed.owl Arnold Chiari type I malformation|Arnold-Chiari type I malformation|Chiari I malformation UMLS:C0750929|MSH:D001139|SNOMEDCT_US:253185002 HP:0002440 owl:Class HP:0033155 biolink:NamedThing Elevated circulating L-alloisoleucine concentration Abnormally increased concentration of L-alloisoleucine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-09-20 11:33:58+00:00 Elevated alloisoleucine in serum or urine is characteristic of Maple syrup urine disease. peter owl:Class HP:0025453 biolink:NamedThing Delayed adrenarche Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development. tmpxe7fu0cj_hp_relaxed.owl 2017-05-04 10:41:47+00:00 HPO:probinson owl:Class HP:0031558 biolink:NamedThing Reduced fibroblast CD59 level Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 23:23:25+00:00 peter owl:Class HP:0005671 biolink:NamedThing Bilateral intracerebral calcifications Deposition of calcium salts on both sides of the brain. tmpxe7fu0cj_hp_relaxed.owl Bilateral intracranial calcifications UMLS:C4025159 owl:Class GO:0060173 biolink:NamedThing limb development The process whose specific outcome is the progression of a limb over time, from its formation to the mature structure. A limb is an appendage of an animal used for locomotion or grasping. Examples include legs, arms or some types of fin. tmpxe7fu0cj_hp_relaxed.owl limb bud development|paired limb/fin development Wikipedia:Limb_development biological_process owl:Class HP:0001664 biolink:NamedThing Torsade de pointes A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG. tmpxe7fu0cj_hp_relaxed.owl Torsades de pointes SNOMEDCT_US:31722008|MSH:D016171|UMLS:C0040479 human_phenotype owl:Class HP:0000700 biolink:NamedThing Periapical bone loss Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root). tmpxe7fu0cj_hp_relaxed.owl Periapical radiolucencies|Periapical radiolucency|Periapical cyst|Bone loss around tooth root|Dark spot around tooth root on x-ray|Periapical granuloma|Periapical lesion MSH:D011842|MSH:D010484|UMLS:C0034543|UMLS:C1852169|UMLS:C0031029|SNOMEDCT_US:89988002|UMLS:C4280609|SNOMEDCT_US:81407003 Periapical radiolucencies can be seen with periapical granuloma, cysts, ameloblastoma, odotogenic keratatoycsts, and other lesions. owl:Class HP:0031387 biolink:NamedThing Increased multinucleated megakaryocyte count The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 16:37:55+00:00 A multinucleated megakaryocyte is a cell of normal size with two or more nuclei. Binucleated micromegakaryocytes should be categorized as such rather than as multinucleated megakaryocytes since the restricted size is of more diagnostic significance than the presence of two nuclei. Multinucleated megakaryocytes are seen in small numbers in normal bone marrow aspirates but in larger numbers in some patients with MDS. peter owl:Class HP:0032399 biolink:NamedThing Dysgyria with normal cortical thickness An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 17:05:51+00:00 peter owl:Class HP:0012219 biolink:NamedThing Erythema nodosum An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0014743|MSH:D004893|SNOMEDCT_US:32861005 The nodules of erythema nodosum are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas, and usually subside in 3-6 weeks without scarring or atrophy. peter 2013-03-30T06:57:07Z human_phenotype owl:Class NCBITaxon:197563 biolink:NamedThing Mandibulata tmpxe7fu0cj_hp_relaxed.owl mandibulates PMID:9727836|GC_ID:1|PMID:11557979 ncbi_taxonomy owl:Class HP:0031730 biolink:NamedThing Axial myopia A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 13:22:58+00:00 peter owl:Class HP:0002667 biolink:NamedThing Nephroblastoma The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. tmpxe7fu0cj_hp_relaxed.owl Wilms tumour|Wilm's tumor|Wilm's tumour|Wilms tumor SNOMEDCT_US:25081006|NCIT:C40407|UMLS:C0027708|MSH:D009396|SNOMEDCT_US:302849000 Nephroblastoma is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever. HP:0000115 human_phenotype owl:Class HP:0012835 biolink:NamedThing Left Being located on the left side of the body. tmpxe7fu0cj_hp_relaxed.owl Left-sided SNOMEDCT_US:263795004|UMLS:C0443246 peter 2014-06-06T07:23:17Z human_phenotype owl:Class HP:0025510 biolink:NamedThing Nevus spilus A tan, regularly bordered patch with darker macules within the lesion. tmpxe7fu0cj_hp_relaxed.owl Speckled lentiginous Nevus 2017-05-15 00:49:05+00:00 HPO:probinson owl:Class HP:0025386 biolink:NamedThing Bitemporal hollowing Depression of profile in both temporal regions. tmpxe7fu0cj_hp_relaxed.owl 2017-04-21 12:00:17+00:00 HPO:probinson owl:Class HP:0030075 biolink:NamedThing Ductal carcinoma in situ Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:86616005|SNOMEDCT_US:373176000|UMLS:C0007124|MSH:D002285|SNOMEDCT_US:109889007|SNOMEDCT_US:278053004 owl:Class CHEBI:23229 biolink:NamedThing chromanol Any member of the class of chromanes that is chromane substituted by one or more hydroxy groups. tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0033208 biolink:NamedThing Alveolar capillary dysplasia A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis. tmpxe7fu0cj_hp_relaxed.owl 2020-10-12 11:18:41+00:00 peter owl:Class HP:0004474 biolink:NamedThing Persistent open anterior fontanelle The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age. tmpxe7fu0cj_hp_relaxed.owl Persistent, open anterior fontanel|Anterior fontanelle open in adults|Front fontanelle stays open UMLS:C1849537 HP:0004483|HP:0004475 human_phenotype owl:Class HP:0003941 biolink:NamedThing Stippled calcification of the elbow tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025493 human_phenotype owl:Class HP:0031507 biolink:NamedThing Decreased circulating T4 level A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). tmpxe7fu0cj_hp_relaxed.owl Decreased circulating thyroxine level|Reduced T4 plasma level 2017-09-21 01:55:27+00:00 peter owl:Class HP:0031505 biolink:NamedThing Abnormal circulating T4 level A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating thyroxine level 2017-09-21 01:52:52+00:00 peter owl:Class HP:0410199 biolink:NamedThing Increased CSF urate concentration Increased concentration of urate in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Elevated CSF urate concentration|Increased cerebrospinal fluid urate 2018-07-20 22:56:41+00:00 owl:Class HP:0032213 biolink:NamedThing Increased urinary renal tubular epithelial cell count An increased number of renal tubular epithelial cells per high-power field in urinanalysis. tmpxe7fu0cj_hp_relaxed.owl 2019-01-20 21:05:55+00:00 peter owl:Class HP:0000699 biolink:NamedThing Diastema Increased space between two adjacent teeth in the same dental arch. tmpxe7fu0cj_hp_relaxed.owl Dental diastema|Diastema of the teeth|Dental diastasis|Diastasis of the teeth|Gaps between teeth|Gap between teeth MSH:D003970|SNOMEDCT_US:35591002|UMLS:C0011998 Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth. owl:Class HP:0040141 biolink:NamedThing Tardive dyskinesia tmpxe7fu0cj_hp_relaxed.owl MSH:D000071057|UMLS:C0686347 the involuntary movements are tardive, meaning they have a slow or belated onset HPO:skoehler owl:Class HP:0031837 biolink:NamedThing Decreased superoxide dismutase level Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. tmpxe7fu0cj_hp_relaxed.owl Decreased superoxide:superoxide oxidoreductase activity 2018-05-05 13:01:54+00:00 peter owl:Class HP:0005961 biolink:NamedThing Hypoargininemia A decreased concentration of arginine in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood arginine levels|Arginine deficiency UMLS:C1859735|UMLS:C4025095 human_phenotype owl:Class HP:0000262 biolink:NamedThing Turricephaly Tall head relative to width and length. tmpxe7fu0cj_hp_relaxed.owl Tower skull shape|Tall shaped skull|Tall shaped cranium|Turricephalus|Tower cranium shape|Tall shaped head MSH:D003398|SNOMEDCT_US:48069004|UMLS:C0030044 Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull. This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape. HP:0001356 owl:Class HP:0030986 biolink:NamedThing Biliary epithelial hyperplasia Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen. tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 13:29:36+00:00 peter owl:Class HP:0031930 biolink:NamedThing Neurocytic rosette A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular. tmpxe7fu0cj_hp_relaxed.owl Pineocytomatous rosette 2018-07-04 13:32:31+00:00 Pineocytomas and central neurocytomas represent well-differentiated neuronal neoplasms with small rounded nuclei, analogous to those normally encountered in the internal granular layer of the cerebellum or the dentate fascia of the hippocampus. Although they likely originate from slightly different precursors, the histologic features of these two tumors are virtually identical, including their tendency to form neuropil-rich rosettes, referred to as pineocytomatous rosettes in pineocytomas and neurocytic rosettes in central neurocytoma peter owl:Class HP:0030837 biolink:NamedThing Finger pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger. tmpxe7fu0cj_hp_relaxed.owl Finger pain SNOMEDCT_US:18876004|UMLS:C0239589 owl:Class HP:0046505 biolink:NamedThing Hand pain An unpleasant sensation characterized by physical discomfort localized to the hand. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0005707 biolink:NamedThing Bilateral triphalangeal thumbs A bilateral form of triphalangeal thumb. tmpxe7fu0cj_hp_relaxed.owl Bilateral digitalized thumb UMLS:C4021627 human_phenotype owl:Class HP:0033952 biolink:NamedThing Abnormal cortical radial artery endothelium morphology Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. tmpxe7fu0cj_hp_relaxed.owl Abnormalities of the interlobular arterial endothelium 2021-06-24 12:21:16+00:00 peter owl:Class HP:0032276 biolink:NamedThing Prominent subcalcaneal fat pad Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 21:38:03+00:00 This pad normally protects the foot against the forces to which it is exposed during the ground contact phase of each step. peter owl:Class HP:0000558 biolink:NamedThing Rieger anomaly A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities. tmpxe7fu0cj_hp_relaxed.owl MSH:C535679|SNOMEDCT_US:47507006|UMLS:C0265341 Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea. human_phenotype owl:Class HP:0032903 biolink:NamedThing Focal vocal automatism seizure A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0061727 biolink:NamedThing methylglyoxal catabolic process to lactate The chemical reactions and pathways resulting in the breakdown of methylglyoxal, CH3-CO-CHO, into lactate. tmpxe7fu0cj_hp_relaxed.owl dph 2015-07-21T17:25:57Z biological_process owl:Class GO:0042044 biolink:NamedThing fluid transport tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0012499 biolink:NamedThing Descending aortic dissection A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. tmpxe7fu0cj_hp_relaxed.owl Type B aortic dissection UMLS:C4022878 According to the Stanford classification, type B aortic dissection begins beyond brachiocephalic vessels (begins distal to the left subclavian artery). peter 2013-11-30T08:44:18Z human_phenotype owl:Class HP:0002058 biolink:NamedThing Myopathic facies A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. tmpxe7fu0cj_hp_relaxed.owl Myopathic facial appearance|Myopathic face UMLS:C0332615|SNOMEDCT_US:26432009 HP:0004647 human_phenotype owl:Class HP:0003621 biolink:NamedThing Juvenile onset Onset of signs or symptoms of disease between the age of 5 and 15 years. tmpxe7fu0cj_hp_relaxed.owl Signs and symptoms begin before 15 years of age UMLS:C4025588 HP:0003661|HP:0003578|HP:0003659|HP:0003592|HP:0003625|HP:0003582|HP:0003589|HP:0003604|HP:0003583|HP:0003670|HP:0003580|HP:0003620|HP:0003619 human_phenotype owl:Class HP:0100703 biolink:NamedThing Tongue thrusting tmpxe7fu0cj_hp_relaxed.owl Tongue thrusting UMLS:C1829460|SNOMEDCT_US:424583005|SNOMEDCT_US:110343009 doelkens 2011-03-31T12:54:41Z human_phenotype owl:Class UBERON:0018135 biolink:NamedThing fibrocollagenous connective tissue tmpxe7fu0cj_hp_relaxed.owl FMA:83521 uberon owl:Class HP:0032082 biolink:NamedThing Translamellar mucoid extracellular matrix accumulation A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees. tmpxe7fu0cj_hp_relaxed.owl 2018-10-14 14:53:33+00:00 peter owl:Class HP:0031499 biolink:NamedThing Appendiceal mucinous neoplasm An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles. tmpxe7fu0cj_hp_relaxed.owl 2017-09-18 00:59:06+00:00 peter owl:Class HP:0007277 biolink:NamedThing Paucity of anterior horn motor neurons tmpxe7fu0cj_hp_relaxed.owl UMLS:C2673351 human_phenotype owl:Class HP:0020044 biolink:NamedThing Horizontal incomitant strabismus tmpxe7fu0cj_hp_relaxed.owl 2017-12-20 17:14:39+00:00 A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts horizontally. robinp owl:Class CHEBI:23366 biolink:NamedThing compatible osmolytes tmpxe7fu0cj_hp_relaxed.owl chebi_ontology owl:Class HP:0025473 biolink:NamedThing Hyperpigmented papule A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 12:34:40+00:00 HPO:probinson owl:Class PATO:0000632 biolink:NamedThing symmetrical A symmetry quality inhering in a bearer by virtue of the bearer's being capable of division by a longitudinal plane into similar halves. tmpxe7fu0cj_hp_relaxed.owl symmetric similar pattern in both halves quality owl:Class HP:0012496 biolink:NamedThing Reduced maximal inspiratory pressure A decrease in the maximum amount of negative pressure a person can generate during an inhalation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022880 peter 2013-11-30T08:24:33Z human_phenotype owl:Class HP:0033560 biolink:NamedThing Anti-PM-Scl antibody positivity Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40. tmpxe7fu0cj_hp_relaxed.owl Anti-PM/Scl antibody positivity 2021-01-23 12:21:25+00:00 Anti-PM-Scl antibodies are found in up to 50% of polymyositis/systemic sclerosis (PM/SSc) overlap syndrome. Around 80% of individuals with antibodies present in their blood serum will have the disorder. The presence of the antibodies is linked to limited cutaneous involvement of PM/SSc overlap syndrome. peter owl:Class HP:0010775 biolink:NamedThing Vascular ring A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails. tmpxe7fu0cj_hp_relaxed.owl Vascular ring of aorta UMLS:C0221214|SNOMEDCT_US:110409004|Fyler:2760|SNOMEDCT_US:66403007 sdoelken 2010-04-29T10:18:47Z human_phenotype owl:Class HP:0034060 biolink:NamedThing Triggered by fava bean ingestion Applies to a sign or symptom that is provoked or brought about by eating fava beans. tmpxe7fu0cj_hp_relaxed.owl 2021-11-27 19:36:52+00:00 The fava bean plant (Vicia faba) was probably one of the first plants to be domesticated, V. faba contains high concentrations of two beta-glucosides (up to 2% in dry weight): vicine and convicine. On ingestion of fava beans, vicine and convicine undergo hydrolysis by glucosidases present both in the beans and in the gastrointestinal tract, releasing the respective aglycones: divicine (2,6-diamino-4,5-dihydroxypyrimidine) and isouramil (6-amino-2,4,5-trihydroxypyrimidine). These highly reactive redox compounds have antifungal and pesticide activity, which probably helps prevent fava beans from rotting, but the compounds are also capable of triggering a favism attack in persons with glucose-6-phosphate dehydrogenase (G6PD) deficiency. peter owl:Class HP:0033953 biolink:NamedThing Cortical radial artery endotheliosis Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling. tmpxe7fu0cj_hp_relaxed.owl Endotheliosis within interlobular arteries 2021-06-24 12:24:50+00:00 peter owl:Class UBERON:0005049 biolink:NamedThing mucosa of infundibulum of uterine tube A mucosa that is part of a uterine tube infundibulum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucosa of uterine tube infundibulum|uterine tube infundibulum mucosa|mucosa of organ of uterine tube infundibulum|uterine tube infundibulum mucous membrane|uterine tube infundibulum organ mucosa|mucous membrane of uterine tube infundibulum|mucosa of infundibulum of oviduct|organ mucosa of uterine tube infundibulum|uterine tube infundibulum mucosa of organ|mucosa of infundibulum of fallopian tube FMA:18357 uberon owl:Class HP:0011964 biolink:NamedThing Intermittent painful muscle spasms History of repeated intermittent involuntary muscle contractions that were painful. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023104 peter 2012-07-16T01:17:16Z human_phenotype owl:Class PATO:0001778 biolink:NamedThing increased strength A strength which is relatively high. tmpxe7fu0cj_hp_relaxed.owl high strength quality owl:Class HP:0031923 biolink:NamedThing Hematocolpos Accumulation of blood in the vagina usually due to vaginal obstruction. tmpxe7fu0cj_hp_relaxed.owl Haematocolpos 2018-07-04 12:19:38+00:00 peter owl:Class NCBITaxon:2301119 biolink:NamedThing Rhabditomorpha tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0005211 biolink:NamedThing Midgut malrotation tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849706 human_phenotype owl:Class HP:0008689 biolink:NamedThing Bilateral cryptorchidism Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. tmpxe7fu0cj_hp_relaxed.owl Cryptorchidism, bilateral UMLS:C0431663|SNOMEDCT_US:268228006|MSH:D003456 HP:0008686 human_phenotype owl:Class HP:0000028 biolink:NamedThing Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. tmpxe7fu0cj_hp_relaxed.owl Undescended testes|Undescended testis|Cryptorchism SNOMEDCT_US:204878001|Fyler:4493|MSH:D003456|UMLS:C0010417 The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. HP:0000797 human_phenotype owl:Class HP:0030536 biolink:NamedThing Unaided visual acuity 0.1 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073010 owl:Class PATO:0001802 biolink:NamedThing loose A pattern quality inhering in a bearer by virtue of the bearer's not being compact or dense in arrangement. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0031506 biolink:NamedThing Increased circulating T4 level An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). tmpxe7fu0cj_hp_relaxed.owl Increased circulating thyroxine level 2017-09-21 01:54:51+00:00 peter owl:Class HP:0007770 biolink:NamedThing Hypoplasia of the retina tmpxe7fu0cj_hp_relaxed.owl Retinal hypoplasia|Underdeveloped retina UMLS:C1854685 human_phenotype owl:Class HP:0025064 biolink:NamedThing Thalamic hemorrhage Bleeding in the thalamus. tmpxe7fu0cj_hp_relaxed.owl Thalamic haemorrhage 2016-09-26 10:03:34+00:00 Thalamic hemorrhage may be observed in individuals with hypertension. In both the acute and chronic phases of bleeding, prominent susceptibility effect, seen as hypointense blooming on sequences, is typically seen upon magnetic resonance imaging. HPO:probinson owl:Class GO:0010616 biolink:NamedThing negative regulation of cardiac muscle adaptation Any process that decreases the rate, extent or frequency of the process in which cardiac muscle adapts, with consequent modifications to structural and/or functional phenotypes, in response to a stimulus. Stimuli include contractile activity, loading conditions, substrate supply, and environmental factors. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0041237 biolink:NamedThing Fractured patella A partial or complete breakage of the patella. tmpxe7fu0cj_hp_relaxed.owl bone patella owl:Class HP:0031635 biolink:NamedThing Anomalous origin of the left common carotid artery from the brachiocephalic artery The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery. tmpxe7fu0cj_hp_relaxed.owl Anomalous origin of the left common carotid artery from the brachiocephalic trunk 2017-12-17 12:29:45+00:00 peter owl:Class UBERON:0002152 biolink:NamedThing middle cerebellar peduncle Regional part of medullary white matter (according to Neuronames) primarily found at the level of the pons, consisting of a very large bundle of fibers originating in the pontine nuclei projecting to the cerebellum (MM). tmpxe7fu0cj_hp_relaxed.owl pedunculus cerebellaris pontinus|crus cerebelli ad pontem|pedunculus cerebellaris medialis|brachium pontis|pedunculus cerebellaris medius|mid-cerebellar peduncle|crus ponto-cerebellare|brachium pontis (stem of middle cerebellar peduncle) NIFSTD_RETIRED:birnlex_1699|MA:0002745|FMA:72515|BM:Pons-BP|MBA:78|BAMS:mcp|BAMS:bp|HBA:9294|BIRNLEX:1529|BAMS:BP|UMLS:C0152392|http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=620|DHBA:12768 http://upload.wikimedia.org/wikipedia/commons/2/2b/Gray705.png uberon owl:Class HP:0012221 biolink:NamedThing Pretibial blistering A type of blistering that affects the skin of the tibial region. tmpxe7fu0cj_hp_relaxed.owl Pretibial epidermolysis bullosa UMLS:C0432321|SNOMEDCT_US:67653003|MSH:C535494 peter 2013-03-30T07:10:17Z owl:Class PATO:0000396 biolink:NamedThing severe intensity An intensity which is extremely bad or unpleasant in type or degree or effect or force. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0025498 biolink:NamedThing Aceruloplasminemia Absence of ceruloplasmin in the blood. tmpxe7fu0cj_hp_relaxed.owl Aceruloplasminaemia 2017-05-14 20:03:35+00:00 HPO:probinson owl:Class PATO:0015008 biolink:NamedThing distensibility tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0004264 biolink:NamedThing Narrow carpal joint spaces tmpxe7fu0cj_hp_relaxed.owl Decreased carpal joint angles UMLS:C4021666 HP:0004265 human_phenotype owl:Class HP:0008703 biolink:NamedThing Gonadal calcification Deposition of calcium salts in gonadal tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024636 human_phenotype owl:Class HP:0041070 biolink:NamedThing Chronic partially decreased circulating IgG1 A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood. tmpxe7fu0cj_hp_relaxed.owl Chronic partially decreased IgG1 in blood owl:Class HP:0100281 biolink:NamedThing Chronic colitis A chronic inflammatory disease of the large intestine (colon, cecum and rectum). tmpxe7fu0cj_hp_relaxed.owl UMLS:C0267375|SNOMEDCT_US:54597004 doelkens 2010-08-10T09:26:33Z human_phenotype owl:Class HP:0004818 biolink:NamedThing Paroxysmal nocturnal hemoglobinuria tmpxe7fu0cj_hp_relaxed.owl Paroxysmal nocturnal haemoglobinuria UMLS:C0024790|MSH:D006457|SNOMEDCT_US:1963002 human_phenotype owl:Class HP:0006207 biolink:NamedThing Partial fusion of carpals tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844519 human_phenotype owl:Class HP:0040212 biolink:NamedThing Risus sardonicus Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles. tmpxe7fu0cj_hp_relaxed.owl Rictus grin SNOMEDCT_US:64314006|UMLS:C0343494 Accompanied by rigidity of neck and trunk muscles and arching of back. Often observed as a sign of tetanus. PhenoTips:CHum owl:Class HP:0010939 biolink:NamedThing Abnormal nasal bone morphology An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the nasal bone|Deformity of the nasal bones|Malformation of the nasal bones|Anomaly of the nasal bones UMLS:C4023637 peter 2011-01-16T02:28:45Z owl:Class HP:0032121 biolink:NamedThing Froment sign An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint. tmpxe7fu0cj_hp_relaxed.owl Froment thumb sign 2018-11-17 16:58:42+00:00 peter owl:Class HP:0034150 biolink:NamedThing Anti-tyrosyl-tRNA synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase. tmpxe7fu0cj_hp_relaxed.owl Anti-Ha antibody positivity 2021-12-23 14:03:53+00:00 peter owl:Class CHEBI:76655 biolink:NamedThing EC 2.1.* (C1-transferase) inhibitor A transferase inhibitor inhibiting the action of transferase of a one-carbon-containing group (EC 2.1.*.*). tmpxe7fu0cj_hp_relaxed.owl one-carbon-containing group transferase inhibitor|C1-transferase (EC 2.1.*) inhibitors|EC 2.1.* (C1-transferase) inhibitors|one-carbon-containing group transferase inhibitors|C1-transferase inhibitors|C1-transferase (EC 2.1.*) inhibitor|C1-transferase inhibitor|EC 2.1.* inhibitors|EC 2.1.* inhibitor chebi_ontology owl:Class HP:0025527 biolink:NamedThing Serpiginous cutaneous lesion A skin lesion with a snake- or serpent-like distribution. tmpxe7fu0cj_hp_relaxed.owl Serpiginous eruption 2017-05-18 00:05:10+00:00 HPO:probinson owl:Class HP:0030816 biolink:NamedThing Gingival recession The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth. tmpxe7fu0cj_hp_relaxed.owl Gum recession|Receding gums MSH:D005889|UMLS:C0017572|SNOMEDCT_US:4356008 owl:Class UBERON:0005650 biolink:NamedThing pedal digit 3 epithelium An epithelium that is part of a pedal digit 3. tmpxe7fu0cj_hp_relaxed.owl pedal digit III epithelium|hind limb digit 3 epithelium|foot digit 3 epithelium EHDAA2:0002048|EMAPA:17467 uberon owl:Class HP:0007585 biolink:NamedThing Skin fragility with non-scarring blistering tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851562 human_phenotype owl:Class HP:0030989 biolink:NamedThing Lymphoid cholangitis Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement. tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 13:40:31+00:00 peter owl:Class HP:4000015 biolink:NamedThing Anti-envoplakin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 14:23:11+00:00 robinp owl:Class HP:0030769 biolink:NamedThing Exencephaly A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium. tmpxe7fu0cj_hp_relaxed.owl MSH:D009436|SNOMEDCT_US:84461004|UMLS:C0266453 owl:Class UBERON:0012329 biolink:NamedThing keratinized stratified squamous epithelium Keratinized stratified squamous epithelium is a stratified squamous epithelium, the cells of which synthesize and accumulate keratin. tmpxe7fu0cj_hp_relaxed.owl epithelium stratificatum squamosum cornificatum FMA:45568 uberon owl:Class HP:0033033 biolink:NamedThing Anti-MDA5 antibody positivity The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5). tmpxe7fu0cj_hp_relaxed.owl Increased level of anti-melanoma differentiation-associated protein 5 antibodies Anti-MDA5 antibodies are myositis-specific autoantibodies, that are specific for clinically amyopathic dermatomyositis (CADM), an uncommon presentation of idiopathic inflammatory myositis, which is associated with rapidly progressive interstitial lung disease. peter owl:Class UBERON:0000218 biolink:NamedThing vertebral arch of axis A neural arch that is part of a vertebral bone 2. tmpxe7fu0cj_hp_relaxed.owl vertebral foramen of cervical vertebra 2 FMA:24053 uberon owl:Class HP:0002870 biolink:NamedThing Obstructive sleep apnea A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow. tmpxe7fu0cj_hp_relaxed.owl Obstructive sleep apnoea UMLS:C0520679|SNOMEDCT_US:78275009|MSH:D020181 human_phenotype owl:Class UBERON:8000006 biolink:NamedThing left side of back Left part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. tmpxe7fu0cj_hp_relaxed.owl http://orcid.org/0000-0001-5208-3432 uberon owl:Class HP:0004920 biolink:NamedThing Phenylpyruvic acidemia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849926 human_phenotype owl:Class GO:0006600 biolink:NamedThing creatine metabolic process The chemical reactions and pathways involving creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle. tmpxe7fu0cj_hp_relaxed.owl creatine metabolism biological_process owl:Class HP:0040312 biolink:NamedThing Temporomandibular arthritis tmpxe7fu0cj_hp_relaxed.owl Arthritis of temporomandibular joint owl:Class HP:0032258 biolink:NamedThing Pulmonary histoplasmosis Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 18:17:55+00:00 peter owl:Class HP:0007524 biolink:NamedThing Atypical neurofibromatosis tmpxe7fu0cj_hp_relaxed.owl MSH:C537392|UMLS:C0220695 human_phenotype owl:Class HP:0006970 biolink:NamedThing Periventricular leukomalacia Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia. tmpxe7fu0cj_hp_relaxed.owl PVL UMLS:C0023529|SNOMEDCT_US:230769007|MSH:D007969 Periventricular leukomalacia is the leading known cause of cerebral palsy. Magnetic resonance imaging-based neuroimaging techniques provide greater diagnostic sensitivity for PVL than does head ultrasonography and often document the involvement of telencephalic gray matter and long tracts in addition to periventricular white matter. owl:Class HP:0006715 biolink:NamedThing Glomus tympanicum paraganglioma tmpxe7fu0cj_hp_relaxed.owl Tympanic nerve tumour|Tympanic nerve tumors|Tympanic nerve tumor|Tympanic nerve tumours UMLS:C1866555 HP:0002892 human_phenotype owl:Class HP:0002864 biolink:NamedThing Paraganglioma of head and neck tmpxe7fu0cj_hp_relaxed.owl Paragangliomas, head and neck UMLS:C1333944 human_phenotype owl:Class HP:0007602 biolink:NamedThing Complex palmar dermatoglyphic pattern tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024835 human_phenotype owl:Class HP:0006768 biolink:NamedThing Localized neuroblastoma tmpxe7fu0cj_hp_relaxed.owl Localised neuroblastoma UMLS:C4024981 human_phenotype owl:Class HP:0005366 biolink:NamedThing Recurrent streptococcus pneumoniae infections Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2169794 human_phenotype owl:Class HP:0032823 biolink:NamedThing Neonatal electro-clinical seizure with behavior arrest Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations. tmpxe7fu0cj_hp_relaxed.owl Neonatal electroclinical seizure with behavioural arrest|Neonatal electro-clinical seizure with behaviour arrest May be focal and/or followed by apnea, other autonomic manifestations and motor seizures. peter owl:Class HP:0034037 biolink:NamedThing Pseudo-chilblains on fingers Inflammatory chilblain-like nodules on the hands and/or fingers. tmpxe7fu0cj_hp_relaxed.owl COVID finger|COVID fingers 2021-09-24 13:50:37+00:00 peter owl:Class HP:0033714 biolink:NamedThing Multiple meningiomata The occurrence of multiple distinct meningiomas in the same individual. tmpxe7fu0cj_hp_relaxed.owl Multiple meningiomata|Multifocal meningiomata 2021-04-07 11:50:58+00:00 peter owl:Class HP:0007818 biolink:NamedThing Central heterochromia The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone. tmpxe7fu0cj_hp_relaxed.owl Ring iris heterochromia UMLS:C4021567 human_phenotype owl:Class HP:0002207 biolink:NamedThing Diffuse reticular or finely nodular infiltrations tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843428 human_phenotype owl:Class HP:0020103 biolink:NamedThing Invasive pulmonary aspergillosis Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 19:17:44+00:00 Invasive pulmonary aspergillosis usually occurs in severely immunocompromised patients. Classic at-risk patients are those with prolonged neutropenia, either due to chemotherapy or immunosuppressive therapy, post hematopoietic stem cell transplant (SCT), or solid organ transplant. robinp owl:Class HP:0032127 biolink:NamedThing Abnormal plasmablast proportion A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination. tmpxe7fu0cj_hp_relaxed.owl 2018-11-22 12:59:19+00:00 Differentiation of B cells into plasmablasts (PB) is most commonly monitored with surface markers CD19, CD20, CD27, CD38, and CD138 and intracellular marker Ki-67. peter owl:Class HP:0005215 biolink:NamedThing Frequent Giardia lamblia infestation Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025235 human_phenotype owl:Class UBERON:0001028 biolink:NamedThing diaphysis of radius A diaphysis that is part of a radius bone[Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl radial diaphysis|shaft of radius|corpus radii|body of radius|radial shaft NCIT:C120674|FMA:33782 uberon owl:Class The body of the radius (or shaft of radius) is prismoid in form, narrower above than below, and slightly curved, so as to be convex lateralward. It presents three borders and three surfaces[Wikipedia:Body_of_radius]. HP:0100858 biolink:NamedThing Dilatation of celiac artery Abnormal outpouching or sac-like dilatation in the wall of the celiac artery. tmpxe7fu0cj_hp_relaxed.owl Coeliac artery aneurysm|Dilatation of coeliac artery|Celiac artery aneurysm SNOMEDCT_US:111290000|UMLS:C0264969 Aneurysm is considered a severe form of dilatation. doelkens 2011-11-30T10:07:35Z human_phenotype owl:Class HP:0032998 biolink:NamedThing Increased cystatin C level A elevated concentration of cystatin C in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033706 biolink:NamedThing Progressive massive fibrosis This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis. tmpxe7fu0cj_hp_relaxed.owl 2021-03-31 10:46:55+00:00 See Figure 56 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0002346 biolink:NamedThing Head tremor An unintentional, oscillating to-and-fro muscle movement affecting head movement. tmpxe7fu0cj_hp_relaxed.owl Head tremor UMLS:C0239882 human_phenotype owl:Class HP:0032212 biolink:NamedThing Increased urinary squamous epithelial cell count An increased number of squamous epithelial cells per high-power field in urinanalysis. tmpxe7fu0cj_hp_relaxed.owl 2019-01-20 21:04:12+00:00 Squamous epithelial cells may indicate contamination of the urine sample and are a poor predictor of urine culture contamination, peter owl:Class HP:0003989 biolink:NamedThing Notched ulna tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025462 human_phenotype owl:Class CHEBI:38443 biolink:NamedThing 1-benzopyran tmpxe7fu0cj_hp_relaxed.owl 1-benzopyrans chebi_ontology owl:Class HP:0010677 biolink:NamedThing Enuresis nocturna Enuresis occurring during sleeping hours. tmpxe7fu0cj_hp_relaxed.owl Nocturnal enuresis SNOMEDCT_US:8009008|UMLS:C0270327|MSH:D053206 sandra1 2010-03-01T09:11:31Z human_phenotype owl:Class HP:0030476 biolink:NamedThing Abnormal amplitude of dark-adapted dim flash electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072966 owl:Class HP:0031709 biolink:NamedThing Compensatory head tilt to the right shoulder A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement. tmpxe7fu0cj_hp_relaxed.owl 2017-12-18 00:31:38+00:00 With fourth cranial nerve palsy leading to weakness of the superior oblique muscle, affected persons tilt the head away from the affected eye as both eyes are most straight in this position. peter owl:Class HP:0011084 biolink:NamedThing Hypocalcification of dental enamel A form of hypomineralization of enamel characterized by reduced calcification. tmpxe7fu0cj_hp_relaxed.owl Decreased enamel calcification|Poorly calcified tooth enamel UMLS:C4023541 peter 2011-03-11T12:08:46Z human_phenotype owl:Class HP:0012788 biolink:NamedThing Reticulate pigmentation of oral mucosa A net-like pattern of increased pigmentation of the oral cavity. tmpxe7fu0cj_hp_relaxed.owl Reticulate pigmentation of oral mucous membrane|Mottled pigmentation of oral mucosa UMLS:C1852148 peter 2014-04-22T09:31:07Z human_phenotype owl:Class HP:0020048 biolink:NamedThing Reduced bone-marrow pro-B cell count A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19. tmpxe7fu0cj_hp_relaxed.owl 2017-12-22 14:57:04+00:00 robinp owl:Class NCBITaxon:5782 biolink:NamedThing Dictyostelium tmpxe7fu0cj_hp_relaxed.owl Hyalostilbum PMID:29367151|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2058185 biolink:NamedThing Dictyosteliaceae tmpxe7fu0cj_hp_relaxed.owl GC_ID:1|PMID:29367151 ncbi_taxonomy owl:Class HP:0030824 biolink:NamedThing Mizuo phenomenon Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]. tmpxe7fu0cj_hp_relaxed.owl Mizuo-Nakamura phenomenon UMLS:C4280748 owl:Class HP:0031532 biolink:NamedThing Focal sub-RPE deposits Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 00:51:20+00:00 peter owl:Class CHEBI:133608 biolink:NamedThing 1-methylhistidine zwitterion An alpha-amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of 1-methylhistidine; major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl 2-azaniumyl-3-(1-methyl-1H-imidazol-4-yl)propanoate 0 C7H11N3O2 InChI=1S/C7H11N3O2/c1-10-3-5(9-4-10)2-6(8)7(11)12/h3-4,6H,2,8H2,1H3,(H,11,12) BRMWTNUJHUMWMS-UHFFFAOYSA-N 169.181 169.08513 [O-]C(=O)C([NH3+])CC=1N=CN(C1)C chebi_ontology owl:Class HP:0031890 biolink:NamedThing Increased urine urobilinogen An elevated concentration of urobilinogen in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-05-13 20:23:52+00:00 Urobilinogen is formed from the reduction of bilirubin. An increased amount of urobilinogen in the urine may be indicative of liver disease. peter owl:Class CHEBI:50177 biolink:NamedThing dermatologic drug A drug used to treat or prevent skin disorders or for the routine care of skin. tmpxe7fu0cj_hp_relaxed.owl dermatologic agent|dermatologic drugs|dermatological agent chebi_ontology owl:Class HP:0031676 biolink:NamedThing Monomorphic ventricular tachycardia A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so). tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 17:06:28+00:00 Monomorphic VT originates from a single ventricular focus. peter owl:Class GO:0045058 biolink:NamedThing T cell selection tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0002421 biolink:NamedThing Poor head control Difficulty to maintain correct position of the head while standing or sitting. tmpxe7fu0cj_hp_relaxed.owl Poor head control UMLS:C1836038 human_phenotype owl:Class HP:0410201 biolink:NamedThing Positive hair barbiturate test Detection of barbiturate metabolites such as phenobarbital in the hair. tmpxe7fu0cj_hp_relaxed.owl 2018-07-20 23:03:14+00:00 owl:Class HP:0410220 biolink:NamedThing Increased anti-dairy protein IgE antibody level Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products. tmpxe7fu0cj_hp_relaxed.owl Increased anti-dairy IgE antibody level 2018-10-03 16:47:11+00:00 owl:Class HP:0031825 biolink:NamedThing Freezing of gait Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk. tmpxe7fu0cj_hp_relaxed.owl Freezing gait 2018-05-02 00:28:50+00:00 Freezing of gait is one of the most debilitating motor symptoms in patients with Parkinson's disease as it may lead to falls and a loss of independence. Patients may report that their feet are stuck to the floor as if held by magnets when trying to walk, resulting in a temporary blockage of the motor function involved in ambulation. peter owl:Class HP:0008480 biolink:NamedThing Cervical spondylosis The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. tmpxe7fu0cj_hp_relaxed.owl Cervical spine degeneration|Cervical osteoarthritis|Neck arthritis UMLS:C1384641|MSH:D055009|UMLS:C0263854|SNOMEDCT_US:387800004|SNOMEDCT_US:387801000 When osteoarthritis affects the spine, it is known as spondylosis. HP:0025266 owl:Class HP:0031325 biolink:NamedThing Myocardial granulomatous infiltrates The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 12:21:00+00:00 peter owl:Class HP:0032163 biolink:NamedThing Molluscum contagiosum Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state. tmpxe7fu0cj_hp_relaxed.owl 2018-12-09 12:51:15+00:00 peter owl:Class GO:0016421 biolink:NamedThing CoA carboxylase activity Catalysis of the joining of a carboxyl group to a molecule that is attached to CoA, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class HP:0011564 biolink:NamedThing Mitral valve arcade Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle. tmpxe7fu0cj_hp_relaxed.owl Hammock mitral valve UMLS:C4021143 peter 2012-04-08T10:03:28Z human_phenotype owl:Class HP:0032289 biolink:NamedThing Oligoclonal elevation of circulating IgG An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 22:23:04+00:00 peter owl:Class HP:0032022 biolink:NamedThing Eosinophilic dermal infiltration Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils. tmpxe7fu0cj_hp_relaxed.owl Eosinophilic dermatitis 2018-09-01 13:38:35+00:00 peter owl:Class HP:0005867 biolink:NamedThing 4-5 metacarpal synostosis tmpxe7fu0cj_hp_relaxed.owl Ring finger and little finger metacarpal synostosis|Fused fourth and fifth metacarpals|Synostosis of the fourth and fifth metacarpal bones|Fused 4th-5th metacarpals|Fused 4th-5th long bones of hand UMLS:C1859768 owl:Class HP:0032383 biolink:NamedThing Uniparental heterodisomy A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 15:04:03+00:00 peter owl:Class CL:0000069 biolink:NamedThing branched duct epithelial cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0012314 biolink:NamedThing Bouchard's node Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0263780|SNOMEDCT_US:20243008 Heberden's nodes are generally a sign of osteoarthritis. peter 2013-08-10T12:27:25Z human_phenotype owl:Class HP:0033271 biolink:NamedThing Glomerular capillary microaneurysm Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 16:09:35+00:00 peter owl:Class CHEBI:138141 biolink:NamedThing 17alpha-hydroxy-C21-steroid Any C21-steroid carrying a hydroxy substituent at the 17alpha-position. Note that individual examples may have ring substituents at other positions and/or contain double bonds, aromatic A-rings, expanded/contracted rings etc., so the formula and mass may vary from that given for the generic structure. tmpxe7fu0cj_hp_relaxed.owl a 17alpha-hydroxy-C21-steroid 0 C21H36O InChI=1S/C21H36O/c1-4-21(22)14-11-18-16-9-8-15-7-5-6-12-19(15,2)17(16)10-13-20(18,21)3/h15-18,22H,4-14H2,1-3H3/t15?,16?,17?,18?,19?,20?,21-/m1/s1 JSIVWCLRCGAVHN-ILZKQPLKSA-N 304.511 304.27662 C1CCCC2C1(C3C(CC2)C4C(CC3)([C@](CC4)(CC)O)C)C MetaCyc:17a-hydroxy-C21-steroids chebi_ontology owl:Class GO:1905223 biolink:NamedThing epicardium morphogenesis The developmental process by which an epicardium is generated and organized. tmpxe7fu0cj_hp_relaxed.owl heart epicardium morphogenesis|visceral serous pericardium proper morphogenesis|visceral serous pericardium of heart morphogenesis|pericardium visceral mesothelium morphogenesis rl 2016-06-07T10:02:32Z biological_process owl:Class HP:0032192 biolink:NamedThing Hydatidiform mole Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast. tmpxe7fu0cj_hp_relaxed.owl 2019-01-19 12:26:05+00:00 The hydatidiform mole (HM) is a placental pathology of androgenetic origin. Placental villi have an abnormal hyperproliferation event and hydropic degeneration. Three situations can be envisaged at its origin: 1. The destruction/expulsion of the female pronucleus at the time of fertilization by 1 or 2 spermatozoa with the former being followed by an endoreplication of the male pronucleus leading to a complete hydatidiform mole (CHM) 2. A triploid zygote (fertilization by 2 spermatozoa) leading to a partial hydatidiform mole (PHM) but can also lead to haploid and diploid clones. The diploid clone may produce a normal fetus while the haploid clone after endoreplication generates a CHM 3. A nutritional defect during the differentiation of the oocytes or the deterioration of the limited oxygen pressure during the first trimester of gestation may lead to the formation of a HM. peter owl:Class GO:0002309 biolink:NamedThing T cell proliferation involved in immune response The expansion of a T cell population by cell division as part of an immune response. tmpxe7fu0cj_hp_relaxed.owl T cell proliferation during immune response|T-lymphocyte proliferation during immune response|T-cell proliferation during immune response|T lymphocyte proliferation during immune response biological_process owl:Class HP:0011970 biolink:NamedThing Cerebral amyloid angiopathy Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0085220|MSH:D016657|SNOMEDCT_US:230724001 Vascular beta-amyloid deposition in the walls of small to medium-sized, blood vessels (mostly arterial) of the central nervous system. Cerebral amyloid angiopathy mostly occurs in the sporadic form in the elderly, while rare familial forms occur in younger patients and are generally lead to more severe clinical manifestations. Extracellular deposition of the amyloid protein in the brain is associated with neurologic and physiological disease progression. peter 2012-07-18T08:39:48Z human_phenotype owl:Class HP:0100279 biolink:NamedThing Ulcerative colitis A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon. tmpxe7fu0cj_hp_relaxed.owl Colitis ulcerosa MSH:D003093|SNOMEDCT_US:64766004|UMLS:C0009324 doelkens 2010-08-10T09:25:44Z human_phenotype owl:Class HP:0032471 biolink:NamedThing Focal polymicrogyria Polymicrogyria affecting one or multiple small areas of the cerebral cortex. tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 10:52:07+00:00 peter owl:Class HP:0005048 biolink:NamedThing Synostosis of carpal bones tmpxe7fu0cj_hp_relaxed.owl Fusion of wrist bones UMLS:C1836193 human_phenotype owl:Class HP:0008352 biolink:NamedThing Impaired platelet adhesion An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation. tmpxe7fu0cj_hp_relaxed.owl Impaired thrombocytes adhesion UMLS:C4024694 human_phenotype owl:Class HP:0032751 biolink:NamedThing Focal impaired awareness emotional seizure with crying Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0008151 biolink:NamedThing Prolonged prothrombin time Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. tmpxe7fu0cj_hp_relaxed.owl Prolonged PT|Reduced factor II activity|Reduced prothrombin activity|increased international normalised ratio|Increased international normalised ratio|Low factor II activity|Increased INR|Increased international normalized ratio SNOMEDCT_US:409674002|UMLS:C0151872 The prothrombin time (PT) and the activated partial thromboplastin time (APTT) are the most requested tests to investigate patients with congenital or acquired coagulopathies and drug monitoring. They are defined as the time (seconds) needed to clot platelet-poor plasma upon addition of coagulation triggers, such as tissue factor in complex with phospholipids and calcium chloride (in the PT), or negatively charged phospholipids-activators and calcium chloride (in the APTT). They can hence be considered as global coagulation tests sensitive to deficiencies of many coagulation factors. In brief, they are both sensitive to factor X, V, II and fibrinogen, whereas the PT is only sensitive to factor VII deficiency and the APTT is sensitive to pre-kallikrein, high molecular weight kininogen (HMWK), factor XII, XI, IX and VIII deficiencies. Normal plasma in the PT clots approximately within 10-12 s upon triggering coagulation, and the normal reference range is (usually) narrow. PT results have been reported as clotting time, percentage activity, PT-ratio (patient-to-normal clotting time) and as international normalized ratio (INR). The INR scale has been devised to harmonize results stemming from different thromboplastins from patients on treatment with vitamin K antagonists. Some recommend abandoning the approach of using percentage activity to assess PR. HP:0012201 human_phenotype owl:Class HP:0040109 biolink:NamedThing Morphological abnormality of the utricle tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022434 HPO:skoehler owl:Class HP:0011699 biolink:NamedThing Atrial reentry tachycardia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023223 peter 2012-04-10T11:15:27Z human_phenotype owl:Class HP:0031260 biolink:NamedThing Triangular tibia A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 16:09:34+00:00 peter owl:Class HP:0008133 biolink:NamedThing Distal tapering of metatarsals tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024729 human_phenotype owl:Class HP:0011118 biolink:NamedThing Abnormality of tumor necrosis factor secretion An abnormality in the production or cellular release of tumor necrosis factor. tmpxe7fu0cj_hp_relaxed.owl Abnormality of cachexin secretion|Abnormality of cachectin secretion|Abnormality of tumour necrosis factor secretion UMLS:C4023529|MP:0008556 peter 2011-06-12T09:16:58Z human_phenotype owl:Class HP:0025661 biolink:NamedThing Chiari type III malformation A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele. tmpxe7fu0cj_hp_relaxed.owl Arnold-Chiari type III malformation peterrobinson owl:Class HP:0010740 biolink:NamedThing Osteopathia striata A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:82663009|UMLS:C0265513 doelkens 2010-04-21T07:30:24Z human_phenotype owl:Class HP:0033504 biolink:NamedThing Elevated circulating fumarate concentration An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 14:29:58+00:00 peter owl:Class HP:0009684 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the thumb The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the outermost thumb bone UMLS:C4024235 doelkens 2009-01-30T09:18:09Z human_phenotype owl:Class GO:0001539 biolink:NamedThing cilium or flagellum-dependent cell motility Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella. tmpxe7fu0cj_hp_relaxed.owl ciliary/flagellar motility|ciliary or bacterial-type flagellar motility Note that we deem eukaryotic cilia and microtubule-based flagella to be equivalent, while the bacterial- and archaeal-type flagella have a different structure. The former are microtubule-based structures that lash back and forth and are present only in eukaryotes, while the latter achieve motility by rotation. Bacterial- and archaeal-type flagella are superficially similar but have a different molecular composition and fine structure. These three structures never co-exist in the same organism. Therefore, GO:0001539 'cilium or flagellum-dependent cell motility' is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term. Direct annotations to GO:0001539 'cilium or flagellum-dependent cell motility' may be amended during annotation QC. biological_process owl:Class HP:0031701 biolink:NamedThing Anterior chamber inflammatory cells The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye. tmpxe7fu0cj_hp_relaxed.owl 2017-12-18 00:14:18+00:00 The terms for anterior chamber cells can be used to select the grade (total number of cells) and then Anterior chamber red blood cells or inflammatory cells can be chosen to specificy whether one or both cells are present. In some scenarios, both cell types may be observed, e.g., followiong trauma. peter owl:Class HP:0010687 biolink:NamedThing Low intestinal alkaline phosphatase An abnormally reduced level of alkaline phosphatase, intestinal type in the blood. tmpxe7fu0cj_hp_relaxed.owl Low intestinal ALP UMLS:C4023738 doelkens 2010-03-05T11:13:10Z human_phenotype owl:Class HP:0032820 biolink:NamedThing Neonatal multifocal clonic seizure Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class UBERON:0003968 biolink:NamedThing peripheral lymph node The lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37938 uberon owl:Class HP:0030281 biolink:NamedThing Cervical C3/C4 vertebral fusion Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022538 owl:Class HP:0012419 biolink:NamedThing Hyperoxemia An abnormally high level of blood oxygen. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022910 Note that hyperoxemia is defined as a condition where arterial oxygen tension is above normal (80-100mmHg). Hyperoxia is defined as increased oxygen tension at the tissue level. Hyperoxia is not measured directly by a standard laboratory value. peter 2013-11-10T05:09:04Z human_phenotype owl:Class PATO:0000618 biolink:NamedThing bilateral A positional quality inhering in a bearer by virtue of the bearer's having two sides; two-sided. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0031332 biolink:NamedThing Cardiomyocyte degeneration Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 12:54:33+00:00 peter owl:Class CHEBI:47775 biolink:NamedThing high-density lipoprotein cholesterol Cholesterol esters and free cholesterol which are contained in or bound to high-density lipoproteins (HDL). tmpxe7fu0cj_hp_relaxed.owl alpha-lipoprotein cholesterol|HDL-C|HDL cholesterol chebi_ontology owl:Class HP:0009539 biolink:NamedThing Contracture of the metacarpophalangeal joint of the 2nd finger Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024301 doelkens 2009-01-21T10:11:49Z human_phenotype owl:Class HP:0011393 biolink:NamedThing Aplasia of the vestibular nerve. Absence of the vestibular nerve tmpxe7fu0cj_hp_relaxed.owl Absent the eighth cranial nerve|Absent vestribular nerve|Absent cranial nerve viii|Aplasia of cranial nerve VIII|Aplasia of the eighth cranial nerve UMLS:C4020751|UMLS:C4021153 May be seen in CHARGE syndrome. hecht 2012-03-09T05:08:14Z human_phenotype owl:Class HP:0200114 biolink:NamedThing Metabolic alkalosis Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0220983|SNOMEDCT_US:1388004 sebastiankohler 2013-06-05T12:33:28Z owl:Class HP:0031556 biolink:NamedThing Reduced granulocyte CD16 level Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 23:23:06+00:00 peter owl:Class HP:0007123 biolink:NamedThing Subcortical dementia A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024935 owl:Class HP:0011749 biolink:NamedThing Adrenocorticotropic hormone excess Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex. tmpxe7fu0cj_hp_relaxed.owl ACTH excess UMLS:C4021124 This term refers to increased production of ACTH. If additionally hypercorticolism is present, this should be coded separated with HP:0011744. peter 2012-04-22T01:09:54Z human_phenotype owl:Class GO:0006000 biolink:NamedThing fructose metabolic process The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. tmpxe7fu0cj_hp_relaxed.owl fructose metabolism Wikipedia:Fructose biological_process owl:Class HP:0031056 biolink:NamedThing Fusiform cerebral aneurysm A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery. tmpxe7fu0cj_hp_relaxed.owl Intracranial fusiform aneurysm 2017-05-27 17:29:26+00:00 peter owl:Class HP:0030464 biolink:NamedThing Asymmetrical distribution of pattern reversal visual evoked potentials tmpxe7fu0cj_hp_relaxed.owl Crossed asymmetry of pattern reversal visual evoked potentials UMLS:C4072954 owl:Class HP:0012577 biolink:NamedThing Thin glomerular basement membrane Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3276821 This finding is demonstrated on renal biopsy. peter 2014-01-16T01:21:17Z owl:Class HP:0005592 biolink:NamedThing Giant melanosomes in melanocytes The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes. tmpxe7fu0cj_hp_relaxed.owl Macromelanosomes UMLS:C3806221 Giant melanosomes can be seen in cafe-au-lait spots and other melanocytic disorders. Giant melanosome and giant melanosome are synonymous. Macromelanosomes can be detected by electron microscopy of the skin. HP:0003342 human_phenotype owl:Class HP:0031728 biolink:NamedThing Mild hypermetropia A form of hypermetropia with not more than +2.00 diopters. tmpxe7fu0cj_hp_relaxed.owl Mild hyperopia 2018-01-21 13:18:26+00:00 peter owl:Class HP:0012156 biolink:NamedThing Hemophagocytosis Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0876991|SNOMEDCT_US:61070002 Hemophagocytosis is a nonspecific phenotypic feature observed in several conditions including hemolytic anemia, malignant disease, infections, and hemophagocytic syndrome (also known as hemophagocytic lymphohistiocytosis, a rare hyperinflammatory syndrome caused by severe hypercytokinemia due to a highly stimulated but ineffective immune process). peter 2013-01-07T10:11:21Z human_phenotype owl:Class HP:0030819 biolink:NamedThing Ski jump nail Nails that slope upward at the free edge. tmpxe7fu0cj_hp_relaxed.owl Upslanting nail|Upward angulation of nail UMLS:C4280751 owl:Class UBERON:0007243 biolink:NamedThing tunica media of vein A tunica media that is part of a vein. tmpxe7fu0cj_hp_relaxed.owl venous media|tunica media (venae) EMAPA:36309|SCTID:42049001|FMA:14354|EV:0100033 uberon owl:Class GO:0042074 biolink:NamedThing cell migration involved in gastrulation The migration of individual cells within the blastocyst to help establish the multi-layered body plan of the organism (gastrulation). For example, the migration of cells from the surface to the interior of the embryo (ingression). tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0030425 biolink:NamedThing Calcified ovarian cyst A cyst of the ovary that exhibits deposition of calcium salts. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072939 owl:Class HP:0032710 biolink:NamedThing Focal aware cognitive seizure with receptive dysphasia/aphasia A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033548 biolink:NamedThing Mesangial amyloid deposition Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. tmpxe7fu0cj_hp_relaxed.owl 2021-01-21 13:43:39+00:00 peter owl:Class HP:0032895 biolink:NamedThing Febrile seizure outside the age of 3 months to 6 years Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure. tmpxe7fu0cj_hp_relaxed.owl Some but not all people with the epilepsy syndrome of Febrile Seizures Plus have these types of seizures. peter owl:Class HP:0010153 biolink:NamedThing Fragmentation of the epiphysis of the 1st metatarsal tmpxe7fu0cj_hp_relaxed.owl Fragmentation of the end part of the 1st long bone of foot UMLS:C4024006 doelkens 2009-05-29T01:24:17Z human_phenotype owl:Class HP:0025536 biolink:NamedThing V-sign Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest. tmpxe7fu0cj_hp_relaxed.owl 2017-05-18 01:20:44+00:00 This feature may be observed with dermatomyositis and polymyositis. HPO:probinson owl:Class HP:0031833 biolink:NamedThing Hypometric upward saccades Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. tmpxe7fu0cj_hp_relaxed.owl 2018-05-04 02:39:32+00:00 peter owl:Class CHEBI:33597 biolink:NamedThing homocyclic compound A cyclic compound having as ring members atoms of the same element only. tmpxe7fu0cj_hp_relaxed.owl homocyclic compound|isocyclic compounds|homocyclic compounds chebi_ontology owl:Class HP:0033446 biolink:NamedThing Elevated circulating butyrylcarnitine concentration Increased concentration of O-butyrylcarnitine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating O-butyrylcarnitine concentration 2021-01-09 18:58:55+00:00 peter owl:Class UBERON:0018578 biolink:NamedThing lower first secondary molar tooth tmpxe7fu0cj_hp_relaxed.owl lower first permanent molar tooth|mandibular first secondary molar tooth FMA:55814 TODO - tooth numbering nomeculature to be aligned across species uberon owl:Class HP:0003837 biolink:NamedThing Soft-tissue ossification around the shoulders Formation of calcified tissue in the soft tissues surrounding the shoulder. tmpxe7fu0cj_hp_relaxed.owl Calcification of the soft-tissue around the shoulders UMLS:C4025561 human_phenotype owl:Class HP:0100505 biolink:NamedThing Low levels of vitamin B5 A reduced concentration of vitamin B5. tmpxe7fu0cj_hp_relaxed.owl Vitamin B5 deficiency UMLS:C4022038 doelkens 2010-12-17T06:13:04Z human_phenotype owl:Class HP:0031196 biolink:NamedThing Thin myocardium compact layer Reduced thickness of the outer, dense layer of the myocardium. tmpxe7fu0cj_hp_relaxed.owl 2017-06-24 14:16:07+00:00 The myocardium compact layer is only in the left ventricle. peter owl:Class HP:0010425 biolink:NamedThing Partial duplication of the distal phalanx of the 2nd toe Partial duplication of the distal phalanx of second toe. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the outermost bone of the 2nd toe UMLS:C4023834 doelkens 2009-07-16T12:57:27Z human_phenotype owl:Class UBERON:0008431 biolink:NamedThing sacral foramen A vertebral foramen that is part of a sacral vertebra. tmpxe7fu0cj_hp_relaxed.owl FMA:31749 uberon owl:Class HP:0031220 biolink:NamedThing Increased radioactive iodine uptake An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 11:59:53+00:00 peter owl:Class CHEBI:29347 biolink:NamedThing monocarboxylic acid amide A carboxamide derived from a monocarboxylic acid. tmpxe7fu0cj_hp_relaxed.owl monocarboxylic acid amides 0 CNOR3 42.01680 41.99799 [*]N([*])C([*])=O CHEBI:13211|CHEBI:6977|CHEBI:22207|CHEBI:25383 chebi_ontology owl:Class HP:0100778 biolink:NamedThing Cryoglobulinemia Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius. tmpxe7fu0cj_hp_relaxed.owl Cryoprecipitable immune complexes SNOMEDCT_US:30911005|MSH:D003449|UMLS:C0010403 doelkens 2011-06-07T05:42:38Z human_phenotype owl:Class HP:0033839 biolink:NamedThing Testicular pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes. tmpxe7fu0cj_hp_relaxed.owl Pain in testicles 2021-05-30 15:33:30+00:00 peter owl:Class HP:0010820 biolink:NamedThing Focal emotional seizure with crying Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present. tmpxe7fu0cj_hp_relaxed.owl Dacrystic seizures|Dacrystic seizure UMLS:C4023693 Crying is a rare feature of an epileptic seizure, and is more commonly a feature of a non-epileptic seizure. The word dacrystic is derived from the Greek word dakryon (tear). peter 2010-07-10T03:23:32Z human_phenotype owl:Class GO:2000835 biolink:NamedThing negative regulation of androgen secretion Any process that stops, prevents or reduces the frequency, rate or extent of androgen secretion. tmpxe7fu0cj_hp_relaxed.owl bf 2011-07-26T08:39:48Z biological_process owl:Class HP:0032507 biolink:NamedThing Labiomental fasciculations Fasciculations affecting the tongue muscle and the musculature of the chin. tmpxe7fu0cj_hp_relaxed.owl Fasciculations, labiomental 2019-05-23 23:07:00+00:00 peter owl:Class HP:0007089 biolink:NamedThing Facial-lingual fasciculations Fasciculations affecting the tongue muscle and the musculature of the face. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1862359 human_phenotype owl:Class HP:0030038 biolink:NamedThing Enchondroma A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:423699002|MSH:D002812|SNOMEDCT_US:31186001|UMLS:C1704356 Most patients have no symptoms. Enchondromas are often identified as incidental findings on X-ray examinations. Enchondromas usually have a radiographic appearance that is long and oval with well-defined margins. owl:Class HP:0005964 biolink:NamedThing Intermittent hypothermia Episodes of reduced body termperature. tmpxe7fu0cj_hp_relaxed.owl Intermittent hypothermia|Intermittent abnormally low body temperature UMLS:C1837639 HP:0005970 owl:Class HP:0005605 biolink:NamedThing Large cafe-au-lait macules with irregular margins Large hypermelanotic macules with jagged borders. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025174 This type of lesionk is observed in McCune Albright syndrome. The cafe-au-lait macules are larger than those seen in neurofibromatosis, and have more irregular borders. The borders of these macules have been compared to the coast of Maine, whereas the cafe-au-lait spots in neurofibromatosis type 1 have been compared to the coast of California. human_phenotype owl:Class HP:0030107 biolink:NamedThing Reduced muscle fiber beta sarcoglycan Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Reduced muscle fibre beta sarcoglycan UMLS:C4022638 owl:Class HP:0005121 biolink:NamedThing Posterior scalloping of vertebral bodies An excessive concavity of the posterior surface of one or more vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl Posterior vertebral body scalloping UMLS:C1850196 The posterior vertebral scalloping sign appears on a lateral radiograph of the spine as an exaggeration of the normal concavity of the posterior surface of one or more vertebral bodies. Neurofibromatosis may be associated with marked scalloping of the posterior borders of the vertebral bodies resulting from intraspinal tumors. HP:0004579|HP:0004572 human_phenotype owl:Class HP:0004239 biolink:NamedThing Proximally placed carpal bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025399 human_phenotype owl:Class HP:0032553 biolink:NamedThing Weak pulse A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse. tmpxe7fu0cj_hp_relaxed.owl 2019-06-14 10:47:25+00:00 peter owl:Class HP:0005474 biolink:NamedThing Decreased calvarial ossification Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). tmpxe7fu0cj_hp_relaxed.owl Undermineralized calvarium|Soft calvaria|Soft skullcap|Poorly ossified calvaria|Poorly ossified calvarium|Skull soft on palpation UMLS:C1833762 HP:0002701|HP:0002702|HP:0005471|HP:0005454 human_phenotype owl:Class HP:0032081 biolink:NamedThing Intralamellar mucoid extracellular matrix accumulation A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units. tmpxe7fu0cj_hp_relaxed.owl 2018-10-14 14:53:06+00:00 peter owl:Class UBERON:0016464 biolink:NamedThing dorsum of nose The midline prominence of the nose, extending from the nasal root to the tip. tmpxe7fu0cj_hp_relaxed.owl nasal ridge|nasal dorsum FMA:59517 uberon owl:Class HP:0001706 biolink:NamedThing Endocardial fibroelastosis Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction tmpxe7fu0cj_hp_relaxed.owl MSH:D004695|SNOMEDCT_US:65457005|UMLS:C0014117 human_phenotype owl:Class HP:0031090 biolink:NamedThing Finger dactylitis Fingers appear swollen and plump owing to inflammation of the complete finger. tmpxe7fu0cj_hp_relaxed.owl Sausage fingers 2017-05-29 00:57:56+00:00 peter owl:Class CHEBI:24470 biolink:NamedThing haloamino acid Any non-proteinogenic amino acid carrying at least one halo group. tmpxe7fu0cj_hp_relaxed.owl haloamino acids chebi_ontology owl:Class HP:0031008 biolink:NamedThing Lingual dystonia Involuntary protrusions, movements, spams and contortions of the tongue. tmpxe7fu0cj_hp_relaxed.owl Tongue dystonia 2017-05-13 21:10:32+00:00 Tongue dystonia may be triggered by speaking but not during other tasks such as eating, drinking, whistling, and blowing. peter owl:Class HP:0031009 biolink:NamedThing Ainhum Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation. tmpxe7fu0cj_hp_relaxed.owl Dactylolysis spontanea 2017-05-13 21:33:40+00:00 peter owl:Class HP:0011433 biolink:NamedThing High maternal serum chorionic gonadotropin An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. tmpxe7fu0cj_hp_relaxed.owl High maternal serum hCG UMLS:C4021150 Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. peter 2012-03-17T07:47:39Z human_phenotype owl:Class HP:0000923 biolink:NamedThing Beaded ribs The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0426824 Beaded ribs, sometimes referred to as rachitic rosary, were often seen in rachitic children. owl:Class NCBITaxon:716545 biolink:NamedThing saccharomyceta tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0001525 biolink:NamedThing Severe failure to thrive tmpxe7fu0cj_hp_relaxed.owl Severe postnatal failure to thrive|Severe faltering weight|Marked failure to thrive|Severe weight faltering UMLS:C1855514 HP:0008876 human_phenotype owl:Class HP:0033148 biolink:NamedThing Increased circulating isovaleric acid concentration Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration. tmpxe7fu0cj_hp_relaxed.owl Isovalericacidemia|Increased circulating isovalerate 2020-09-19 11:42:45+00:00 peter owl:Class HP:0033970 biolink:NamedThing Interlobular vein intima/media liquefactive necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. tmpxe7fu0cj_hp_relaxed.owl Liquefactive necrosis within interlobular vein intima/media 2021-06-24 12:54:39+00:00 peter owl:Class HP:0008414 biolink:NamedThing Lumbar kyphosis in infancy tmpxe7fu0cj_hp_relaxed.owl Round back in infancy|Hunched back in infancy UMLS:C1863423 human_phenotype owl:Class HP:0006717 biolink:NamedThing Peripheral neuroepithelioma tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:254764001|UMLS:C3489398 human_phenotype owl:Class HP:0032605 biolink:NamedThing High renal tubular epithelial cell N/C ratio At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. tmpxe7fu0cj_hp_relaxed.owl High N/C ratio of renal tubular epithelial cells peter owl:Class HP:0012756 biolink:NamedThing CSF polymorphonuclear pleocytosis An increased polymorphonuclear cell count in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022740 peter 2014-04-02T01:07:51Z human_phenotype owl:Class MAXO:0000540 biolink:NamedThing nuchal translucency screening An ultrasonic examination of the fetus in the late first trimester to measure the clear space at the back of the fetal neck to assess risk of genetic or cardiac abnormalities. tmpxe7fu0cj_hp_relaxed.owl ultrasonographic nuchal translucency exam|NT testing|nuchal translucency ultrasound screening 2020-03-19 21:03:16+00:00 NCIT:C92837 owl:Class HP:0001998 biolink:NamedThing Neonatal hypoglycemia tmpxe7fu0cj_hp_relaxed.owl Low blood sugar in newborn UMLS:C0158986|SNOMEDCT_US:52767006 human_phenotype owl:Class HP:0011330 biolink:NamedThing Metopic synostosis Premature fusion of the metopic suture. tmpxe7fu0cj_hp_relaxed.owl Metopic craniosynostosis|Metopic suture craniosynostosis MSH:D003398|SNOMEDCT_US:109409003|UMLS:C1860819|MSH:C562951|UMLS:C0432122 peter 2012-02-25T03:52:01Z human_phenotype owl:Class HP:0030229 biolink:NamedThing Accumulation of muscle fiber valosin-containing protein Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Accumulation of muscle fibre valosin-containing protein UMLS:C4022569 owl:Class HP:0033246 biolink:NamedThing Type II pneumocyte hypertrophy Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin. tmpxe7fu0cj_hp_relaxed.owl Hypertrophic alveolar type II cells|Hypertrophic alveolar type II pneumocytes 2020-11-25 11:46:33+00:00 peter owl:Class HP:0005853 biolink:NamedThing Congenital foot contraction deformities tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025123 human_phenotype owl:Class HP:0031121 biolink:NamedThing Bicuspid aortic valve with left-noncoronary cusp fusion A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 12:04:18+00:00 peter owl:Class HP:0007811 biolink:NamedThing Horizontal pendular nystagmus Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866180 Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other. HP:0200069 human_phenotype owl:Class HP:0011771 biolink:NamedThing Autoimmune hypoparathyroidism A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:75316000|UMLS:C0271865 peter 2012-04-22T04:54:37Z human_phenotype owl:Class UBERON:0035078 biolink:NamedThing parotid gland interlobular duct Any of the excretory ducts of the parotid gland which are found in the connective tissue septa i.e. between lobules. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0034102 biolink:NamedThing Anti-sphingolipid antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 15:00:03+00:00 peter owl:Class HP:0031638 biolink:NamedThing Anomalous origin of the left anterior descending artery from the pulmonary artery The left anterior descending artery (LAD) branches off from the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 12:50:50+00:00 Normally the left main coronary artery bifurcates into the left circumflex artery and the LAD. peter owl:Class HP:0031841 biolink:NamedThing Positive urine methadone test Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 14:18:14+00:00 Methadone is an opioid drug that is used to treat severe pain or in the treatment of individiuals with opioid dependency. peter owl:Class HP:0005688 biolink:NamedThing Dysplastic distal thumb phalanges with a central hole tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025153 human_phenotype owl:Class HP:0410022 biolink:NamedThing Vaginal fish odor A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA). tmpxe7fu0cj_hp_relaxed.owl Vaginal fish odour|Vaginal fish odor owl:Class HP:0030384 biolink:NamedThing Decreased proportion of marginal zone B cells A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072922 owl:Class HP:0006321 biolink:NamedThing Multiple non-erupting secondary teeth tmpxe7fu0cj_hp_relaxed.owl Multiple unerupted permanent teeth|Failure of eruption of multiple adult teeth|Multiple non-erupting permanent teeth|Failure of eruption of multiple permanent teeth|Multiple non-erupting adult teeth|Multiple unerupted adult teeth UMLS:C1848904 human_phenotype owl:Class HP:0007208 biolink:NamedThing Irregular myelin loops Presence of irregular redundant loops of focally folded myelin in a peripheral nerve. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024922 human_phenotype owl:Class HP:0031626 biolink:NamedThing Coronary ostial atresia Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve. tmpxe7fu0cj_hp_relaxed.owl Atresia of coronary ostium 2017-12-16 16:26:05+00:00 Coronary ostial atresia is usually associated with ischemic manifestations peter owl:Class UBERON:0013755 biolink:NamedThing arterial blood A blood that is part of a artery. tmpxe7fu0cj_hp_relaxed.owl portion of arterial blood|arterial blood|blood in artery FMA:83066 uberon owl:Class HP:0011643 biolink:NamedThing Coronary sinus atrial septal defect An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus. tmpxe7fu0cj_hp_relaxed.owl ICD-10:Q21.1|UMLS:C2063331 peter 2012-04-09T09:07:42Z human_phenotype owl:Class HP:0005518 biolink:NamedThing Increased mean corpuscular volume Larger than normal size of erythrocytes. tmpxe7fu0cj_hp_relaxed.owl Erythrocyte macrocytosis|Increased MCV UMLS:C0855791 Macrocytosis refers to a mean cell volume (MCV) greater than 100 fL. If macrocytosis is an isolated abnormality, the amount of hemoglobin in the cell increases proportionately, so the mean cell hemoglobin concentration (MCHC) remains within normal limits. HP:0005536 human_phenotype owl:Class HP:0007006 biolink:NamedThing Dorsal column degeneration tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024953 human_phenotype owl:Class HP:0000867 biolink:NamedThing Secondary hyperparathyroidism Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:91478007|UMLS:C0020503|MSH:D006962 Secondary hyperparathyroidism occurs most commonly secondary to chronic renal failure. Other causes of secondary hyperparathyroidism include osteomalacia, rickets, and malabsorption. The pathophysiology of secondary hyperparathyroidism results from abnormalities in the renal tubular absorption of phosphate with reduced phosphate excretion and hyperphosphatemia, as well as impaired renal conversion of 25-hydroxycholecalciferal to 1,25-dihydroxycholecalciferol, which in turn leads to a decrease in the intestinal absorption of calcium. In combination, elevated serum phosphate levels and reduced vitamin D production result in decreases in serum calcium levels or hypocalcemia, leading to hyperparathyroidism. human_phenotype owl:Class HP:0001425 biolink:NamedThing Heterogeneous tmpxe7fu0cj_hp_relaxed.owl Heterogeneity|Genetic heterogeneity UMLS:C0242960|MSH:D018740 human_phenotype owl:Class HP:0004405 biolink:NamedThing Prominent nipples tmpxe7fu0cj_hp_relaxed.owl Prominent nipples UMLS:C1855513 peter 2008-03-18T09:19:00Z human_phenotype owl:Class HP:0007447 biolink:NamedThing Diffuse palmoplantar hyperkeratosis Diffuse abnormal thickening of the skin on the palms and soles. tmpxe7fu0cj_hp_relaxed.owl Hyperkeratosis, diffuse palmoplantar|Diffuse palmoplantar keratoderma MSH:D015776|UMLS:C4021575 The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature. HP:0007435 owl:Class HP:0006579 biolink:NamedThing Prolonged neonatal jaundice Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. tmpxe7fu0cj_hp_relaxed.owl Prolonged yellowing of skin in newborn|Neonatal jaundice|Jaundice, neonatal MSH:D007567|SNOMEDCT_US:387712008|UMLS:C1859236|UMLS:C0022353 HP:0000986 human_phenotype owl:Class HP:0012233 biolink:NamedThing Intramuscular hematoma Blood clot formed within muscle tissue following leakage of blood into the tissue. tmpxe7fu0cj_hp_relaxed.owl Intramuscular haemorrhage|Intramuscular hematomas|IM hematoma|Intramuscular hemorrhage|Intramuscular haematoma UMLS:C0240412|SNOMEDCT_US:262969000 peter 2013-03-31T09:38:57Z human_phenotype owl:Class HP:0032518 biolink:NamedThing Disseminated dermatophytosis A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs. tmpxe7fu0cj_hp_relaxed.owl 2019-05-26 10:37:28+00:00 Disseminated dermatophytosis tends to occur in patients with both defi cient T cell-mediated immunity and an impaired infl ammatory response. This process occurs either by direct extension, draining lymphatics, or hematogenous spread. It can present with involvement of distant skin areas, lymph nodes, bone, muscle, liver, spleen, testes or the central nervous system. Ultimately, disseminated infection can result in bacterial superinfection, osteomyelitis, organ dysfunction and eventual death. peter owl:Class HP:0003443 biolink:NamedThing Decreased size of nerve terminals A reduction in the size of nerve terminals. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025615 Nerve terminals are the output region of nerves located presynaptically and (in the case of chemical synapses) containing vesicles of chemical neurotransmitters. Presynaptic nerve terminals normally are larger in diameter than the axon and have the appearance of a bud. This feature can be demonstrated by muscle biopsy. human_phenotype owl:Class HP:0031594 biolink:NamedThing PR segment depression A reduction in voltage of the PR segment below baseline. tmpxe7fu0cj_hp_relaxed.owl PTa depression|PR interval depression 2017-10-15 13:31:27+00:00 The differential diagnosis includes normal variant, pericarditis or atrial infarct. peter owl:Class HP:0003548 biolink:NamedThing Subsarcolemmal accumulations of abnormally shaped mitochondria An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025597 This finding can be demonstrated by electron microscopy. This finding is typical of mitochondrial myopathies. human_phenotype owl:Class HP:0033409 biolink:NamedThing Elevated urinary 2-hydroxybutyric acid An increased amount of 2-hydroxybutyric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 16:16:26+00:00 peter owl:Class HP:0033060 biolink:NamedThing Decreased serum complement C5 A reduced level of the complement component C5 in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Human C5 complement is a plasma glycoprotein (MW:196 kDa) composed of two disulfide-bound polypeptidechains (C5alpha and C5beta). The C5 coding gene is located on chromosome 9q34.1 and spans a genomic region of 79 kb. Its open reading frame,composed of 41 exons, codes for C5alpha (exons 1-16) and C5beta (exons 17-41) and gives rise to a 6 kb mRNA translated into a pre-C5 protein which is processed into the mature, two-chain C5 form by the removal of the RPRR region. peter owl:Class HP:0032198 biolink:NamedThing Decreased prothrombin time Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. tmpxe7fu0cj_hp_relaxed.owl Decreased PT|Decreased international normalized ratio|Decreased international normalised ratio|Decreased INR 2019-01-19 15:32:55+00:00 peter owl:Class HP:0030409 biolink:NamedThing Renal transitional cell carcinoma A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. tmpxe7fu0cj_hp_relaxed.owl renal TCC|Transitional renal cell carcinoma|Renal urothelial carcinoma UMLS:C1319314|SNOMEDCT_US:408642003 owl:Class HP:0012670 biolink:NamedThing Orthostatic syncope Syncope following a quick change in position from lying down to standing. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0749201 peter 2014-02-15T01:41:57Z human_phenotype owl:Class HP:0031823 biolink:NamedThing Reduced hypoxanthine-guanine phosphoribosyltransferase level Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. tmpxe7fu0cj_hp_relaxed.owl Reduced GMP pyrophosphorylase level|Reduced 6-hydroxypurine phosphoribosyltransferase level|Reduced 6-mercaptopurine phosphoribosyltransferase level 2018-05-01 02:23:27+00:00 peter owl:Class HP:0011971 biolink:NamedThing Dermatographic urticaria An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor). tmpxe7fu0cj_hp_relaxed.owl Dermographism|Skin writing|Dermatographism UMLS:C0343065|SNOMEDCT_US:7632005|SNOMEDCT_US:402410006|SNOMEDCT_US:402601007 peter 2012-07-18T08:42:25Z owl:Class HP:0031191 biolink:NamedThing Deep dermal perivascular inflammatory infiltrate Numerous lymphocytes surrounding blood vessels in the deep part of the dermis. tmpxe7fu0cj_hp_relaxed.owl Deep perivascular inflammatory infiltrate 2017-06-24 14:07:03+00:00 peter owl:Class HP:0005423 biolink:NamedThing Dysfunctional alternative complement pathway An abnormality of the functioning of any aspect of the alternative complement pathway. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839458 human_phenotype owl:Class HP:0032527 biolink:NamedThing Inferiorly positioned umbilicus The position of the umbilicus (belly button) is abnormally low (inferior). tmpxe7fu0cj_hp_relaxed.owl Low set umbilicus|Low-set umbilicus 2019-05-26 11:50:43+00:00 peter owl:Class HP:0032500 biolink:NamedThing Exacerbated by tobacco use Applied to a sign or symptom that is worsened by smoking tobacco products. tmpxe7fu0cj_hp_relaxed.owl Aggravated by tobacco use|Exacerbated by smoking|Smoking or tobacco use exacerbates symptoms 2019-05-23 22:51:26+00:00 peter owl:Class HP:0030026 biolink:NamedThing Squared superior portion of helix Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022671 This is not to be confused with Lop ear or Satyr ear and may represent an underdevelopment of the upper third of the pinna. This is usually associated with a short ascending helix. owl:Class HP:0006006 biolink:NamedThing Hypotrophy of the small hand muscles tmpxe7fu0cj_hp_relaxed.owl Degeneration of small hand muscles UMLS:C1843228 human_phenotype owl:Class HP:0000866 biolink:NamedThing Euthyroid multinodular goiter tmpxe7fu0cj_hp_relaxed.owl Euthyroid multinodular goitre UMLS:C1846034 human_phenotype owl:Class HP:0006574 biolink:NamedThing Hepatic arteriovenous malformation tmpxe7fu0cj_hp_relaxed.owl Liver arteriovenous malformation SNOMEDCT_US:84150000|UMLS:C0520557 HP:0006569 human_phenotype owl:Class HP:0007690 biolink:NamedThing Map-dot-fingerprint corneal dystrophy tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:32935005|UMLS:C0271285 human_phenotype owl:Class HP:0020037 biolink:NamedThing Astasia A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength. tmpxe7fu0cj_hp_relaxed.owl 2017-10-13 12:38:30+00:00 robinp owl:Class HP:0032557 biolink:NamedThing History of bone marrow transplant A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor. tmpxe7fu0cj_hp_relaxed.owl Status post haematopoietic stem cell transplantation|Status post hematopoietic stem cell transplantation 2019-06-14 11:13:53+00:00 peter owl:Class HP:0025341 biolink:NamedThing Corneal keratic precipitates An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea. tmpxe7fu0cj_hp_relaxed.owl 2017-02-12 13:03:48+00:00 Keratic precipitates may collect in a triangular pattern called Arit triangle with the base down on the lower part of theendothelial surface or may be distributed diffusely accross the endothelium. If they are greasy in appearance, the term mutton fat keratic precipitate is used. HPO:probinson owl:Class HP:0008394 biolink:NamedThing Congenital onychodystrophy tmpxe7fu0cj_hp_relaxed.owl Congenital malformed nails UMLS:C1393669|UMLS:C4280413 human_phenotype owl:Class HP:0030521 biolink:NamedThing Bitemporal hemianopia tmpxe7fu0cj_hp_relaxed.owl MSH:D006423|SNOMEDCT_US:61917005|UMLS:C0221184 owl:Class CHEBI:67016 biolink:NamedThing tetrahydrofolate A folate obtained by deprotonation of any tetrahydrofolic acid. tmpxe7fu0cj_hp_relaxed.owl tetrahydrofolate anion|tetrahydrofolate anions|tetrahydrofolates chebi_ontology owl:Class HP:0500107 biolink:NamedThing Isolated diastolic hypotension A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg). tmpxe7fu0cj_hp_relaxed.owl 2018-06-22 14:06:56+00:00 Isolated diastolic hypotension is a risk factor for incident heart failure. owl:Class HP:0008353 biolink:NamedThing Neutral hyperaminoaciduria The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856194 human_phenotype owl:Class HP:0009886 biolink:NamedThing Trichorrhexis nodosa Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0263485|SNOMEDCT_US:238736006|SNOMEDCT_US:22486004 peter 2009-04-30T05:51:57Z human_phenotype owl:Class UBERON:0011151 biolink:NamedThing jaw depressor muscle A muscle whose action is to depress the lower jaw. tmpxe7fu0cj_hp_relaxed.owl coracomandibularis|geniothoracis|protractor hyoideus|depressor gnathalis|branchiomandibularis|geniohyoideus|geniohyoideus muscle|protractor hyoidei TAO:0000612|AAO:0010655|XAO:0004127 uberon owl:Class Muscle located on ventral side of the head, linking the ventral hyoid arch to the dentary. Innervated by ramus mandibularis V and ramus hyoides VII.[TAO]|Muscle that pulls the hyoid apparatus forward and depresses the lower jaw.[AAO] relationship loss: subclass hyobranchial muscles (AAO:0000224)[AAO] Source: Winterbottom, R. 1973. A Descriptive Synonymy of the Striated Muscles of the Teleostei. Proceedings of the Academy of Natural Sciences of Philadelphia, Vol. 125 (1973), pp. 225-317.[TAO] In amphibians, 'Muscle that pulls the hyoid apparatus forward and depresses the lower jaw.' [AAO:0010655]. 'The protractor hyoideus muscle in teleosts is commonly, albeit mistakenly, referred to as the geniohyoideus muscle, which is involved in the coracomandibularis coupling. According to Edgeworth (1935) and Winterbottom (1974), the protractor hyoideus is composed of a fusion of the intermandibularis posterior and the interhyoideus muscles which resulted in the protractor hyoideus which spans the hyoid and mandible. The intermandibularis spans the mandible while the closely apposed interhyoideus spans the hyoid in other fishes. Furthermore, they concluded that any muscle that is homologous to the geniohyoideus (coracomandibularis coupling) in other lower vertebrates has been lost in teleosts, as well as gars. However, the protractor hyoideus muscle is functionally analogous to the coracomandibularis coupling of other vertebrates and so we use it in our discussion to show the phylogenetically broad roles of these couplings in jaw mechanics.' HP:0011133 biolink:NamedThing Increased sensitivity to ionizing radiation An abnormally increased sensitivity to the effects of ionizing radiation. tmpxe7fu0cj_hp_relaxed.owl Increased sensitivity to ionising radiation UMLS:C4021850 Ionizing radiation can lead to the production of free radicals, break chemical bonds, and damage DNA; RNA, and proteins. Cellular damage related to low doses such as that received from normal background radiation is rapidly repaired under normal conditions. peter 2011-06-19T11:04:20Z human_phenotype owl:Class HP:0003676 biolink:NamedThing Progressive Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. tmpxe7fu0cj_hp_relaxed.owl Worsens with time|Progressive disorder UMLS:C0205329|SNOMEDCT_US:255314001|SNOMEDCT_US:252157006|UMLS:C1864985 owl:Class HP:0020166 biolink:NamedThing Central retinal vein occlusion Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-06 21:10:20+00:00 owl:Class UBERON:0015121 biolink:NamedThing left outer canthus An outer canthus that is in_the_left_side_of a head. tmpxe7fu0cj_hp_relaxed.owl lateral angle of left eye|left angle of eye|left lateral canthus|left lateral palpebral commissure|lateral canthus of left eye FMA:59318 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern UBERON:0006726 biolink:NamedThing outer canthus A corner of the outer (lateral) part of an eye. tmpxe7fu0cj_hp_relaxed.owl temporal canthus|outer canthi|lateral canthus|lateral palpebral commissure|lateral angle of eye|lateral canthus of eye VHOG:0001571|FMA:59315|UMLS:C1711189|EHDAA:9039|EMAPA:37458|EHDAA2:0000910|NCIT:C49597|MA:0001264 see also FMA:59321 uberon owl:Class The angle at the end of the palpebral fissure, the slit between the eyelids, close to the temporal region of the skull. [ISBN:0124020607, p.263][VHOG] HP:0040149 biolink:NamedThing Woolly scalp hair The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. tmpxe7fu0cj_hp_relaxed.owl Nappy scalp hair texture|Kinky scalp hair texture|Afro-textured scalp hair|Wooly scalp hair UMLS:C4280292|UMLS:C4280293|UMLS:C4015203|UMLS:C4280291 HPO:skoehler owl:Class HP:0002224 biolink:NamedThing Woolly hair The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. tmpxe7fu0cj_hp_relaxed.owl Nappy hair texture|Kinked hair|Afro-textured hair|Kinky hair texture|Wooly hair MEDDRA:10048017|SNOMEDCT_US:52564001|UMLS:C0343073|UMLS:C4073292|UMLS:C4072835|UMLS:C4072836 See figures in PMID:20464096. human_phenotype owl:Class HP:0033588 biolink:NamedThing Labial adhesion Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline. tmpxe7fu0cj_hp_relaxed.owl Labial agglutination|Synechia vulvae 2021-01-27 21:15:27+00:00 peter owl:Class HP:0001722 biolink:NamedThing High-output congestive heart failure A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0742747 human_phenotype owl:Class NCBITaxon:1329799 biolink:NamedThing Archelosauria tmpxe7fu0cj_hp_relaxed.owl Archosauria-Testudines|Testudines + Archosauria group GC_ID:1|PMID:25450099|PMID:22839753 ncbi_taxonomy owl:Class HP:0025340 biolink:NamedThing Deep episcleral hyperemia Prominence of blood vessels of the deep episcleral tissues. tmpxe7fu0cj_hp_relaxed.owl Deep episcleral hyperaemia 2017-02-12 13:00:24+00:00 The episclera is a fibroelastic structure with two loosely joined layers. The superficial layer contains vessels of the superficial episcleral capillary plexus that appear straight and are arranged in a radial fashion. The deeper layer contains a highly anastomotic network of blood vessels. The episclera and sclera have a separate blood supply from that of the conjunctiva. Conjunctival hyperemia can be distinguished from episceral hyperemia because conjunctival hyperemia is characterized by finer, less tortuous vessels but deeper episcleral hyperemia maybe violaceous. The conjunctival vessels but not the deeper vessels can be moved by massaging with a cotton swab. HPO:probinson owl:Class HP:0004052 biolink:NamedThing Delayed ossification of the hand bones Ossification of hand bones is less advanced than would be expected according to age-adjusted norms. tmpxe7fu0cj_hp_relaxed.owl Delayed maturation of the hand bones|Delay maturation/delayed ossification of the hand UMLS:C4021686|UMLS:C4020833 human_phenotype owl:Class GO:2000473 biolink:NamedThing positive regulation of hematopoietic stem cell migration Any process that activates or increases the frequency, rate or extent of hematopoietic stem cell migration. tmpxe7fu0cj_hp_relaxed.owl positive regulation of hemopoietic stem cell migration bf 2011-03-09T09:35:25Z biological_process owl:Class HP:0031977 biolink:NamedThing Increased vertical cup-to-disc ratio - 0.9 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3). tmpxe7fu0cj_hp_relaxed.owl 2018-07-08 00:15:12+00:00 peter owl:Class HP:0100769 biolink:NamedThing Synovitis tmpxe7fu0cj_hp_relaxed.owl MSH:D013585|SNOMEDCT_US:416209007|UMLS:C0039103 doelkens 2011-06-07T11:45:59Z human_phenotype owl:Class HP:0012341 biolink:NamedThing Microprolactinoma A pituitary prolactin cell adenoma of less than 10 mm diameter. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:253010003|UMLS:C0344452|MSH:D015175 peter 2013-09-13T09:49:32Z human_phenotype owl:Class HP:0009905 biolink:NamedThing Thin ear helix Decreased thickness of the helix of the ear. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024164 peter 2009-05-01T02:50:35Z human_phenotype owl:Class HP:0200072 biolink:NamedThing Episodic quadriplegia Intermittent episodes of paralysis of all four limbs. tmpxe7fu0cj_hp_relaxed.owl Quadriplegia, episodic UMLS:C1863062 sebastiankohler 2013-05-31T04:27:32Z human_phenotype owl:Class HP:0002445 biolink:NamedThing Tetraplegia Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. tmpxe7fu0cj_hp_relaxed.owl Quadriplegia|Paralysis of all four limbs MSH:D011782|UMLS:C0034372|SNOMEDCT_US:11538006 HP:0010552 owl:Class HP:0001734 biolink:NamedThing Annular pancreas A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:40315008|MSH:C536376|UMLS:C0149955 human_phenotype owl:Class HP:0032270 biolink:NamedThing Optic nerve tram-track sign A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 20:29:14+00:00 peter owl:Class HP:0410288 biolink:NamedThing Hyperamylasemia Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. tmpxe7fu0cj_hp_relaxed.owl Increased circulating amylase level 2019-01-28 20:07:47+00:00 owl:Class HP:0033371 biolink:NamedThing Bronchocentric granulomatosis Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen. tmpxe7fu0cj_hp_relaxed.owl 2020-12-16 12:59:57+00:00 This feature is shown in Figure 2 of PMID:26744680. peter owl:Class HP:0100315 biolink:NamedThing Lewy bodies tmpxe7fu0cj_hp_relaxed.owl Lewy body disease SNOMEDCT_US:80098002|UMLS:C0752347|UMLS:C0085200|SNOMEDCT_US:43127003|MSH:D016631|MSH:D020961|SNOMEDCT_US:312991009 doelkens 2010-08-10T03:32:14Z human_phenotype owl:Class NBO:0000541 biolink:NamedThing dipsosis "A pathological drinking behavior characterised by an excessive desire to drink." [NBO:GVG] MP:0002119 tmpxe7fu0cj_hp_relaxed.owl 2011-04-10T10:41:10Z George Gkoutos behavior_ontology 'participates in' some ('regulation of drinking behavior' and (has_quality some ('increased frequency' and towards some 'liquid consumption' and owl:qualifier some chronic))) owl:Class HP:0032876 biolink:NamedThing Focal aware cognitive seizure with conduction dysphasia/aphasia A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032883 biolink:NamedThing Focal aware cognitive seizure with deja vu/jamais vu A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0009109 biolink:NamedThing Denervation of the diaphragm Interruption of the innervation of the diaphragm. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1858529 peter 2008-04-05T10:41:00Z human_phenotype owl:Class HP:0008028 biolink:NamedThing Cystoid macular degeneration A form of macular degeneration characterized by the presence of multiple cysts in the macula. tmpxe7fu0cj_hp_relaxed.owl Cystic macular degeneration UMLS:C0154850|SNOMEDCT_US:14046000 HP:0007673 human_phenotype owl:Class HP:0011584 biolink:NamedThing Thoracocervical ectopia cordis A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023285 peter 2012-04-08T01:12:42Z human_phenotype owl:Class HP:0031364 biolink:NamedThing Ecchymosis A purpuric lesion that is larger than 1 cm in diameter. tmpxe7fu0cj_hp_relaxed.owl Ecchymoses 2017-08-29 12:32:57+00:00 peter owl:Class HP:0025684 biolink:NamedThing Decreased amyloid beta 42 peptide CSF concentration A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0012184 biolink:NamedThing Increased HDL cholesterol concentration An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased circulating high-density lipoprotein levels|Hyperalphalipoproteinemia|High blood HDL level SNOMEDCT_US:238080004|MSH:C564591|UMLS:C0342883 The major apolipoproteins of HDL are apolipoprotein (apo) A-I and apo A-II, also known as the alpha lipoproteins. Thus, hyperalphalipoproteinemia refers to an elevated concentration of apo A-I and apo A-II. peter 2013-02-24T09:14:45Z human_phenotype owl:Class HP:0033005 biolink:NamedThing Plantar warts Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV). tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011692 biolink:NamedThing Supraventricular tachycardia with a concealed accessory pathway on the right free wall tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023229 peter 2012-04-10T10:37:37Z human_phenotype owl:Class HP:0410146 biolink:NamedThing Increased biotinidase level An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. tmpxe7fu0cj_hp_relaxed.owl 2018-03-12 20:15:15+00:00 owl:Class HP:0025420 biolink:NamedThing Diffuse alveolar hemorrhage A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. tmpxe7fu0cj_hp_relaxed.owl Diffuse alveolar haemorrhage 2017-04-23 12:16:52+00:00 Diffuse alveolar hemorrhage is a life-threatening and medical emergency that can be caused by numerous disorders and presents with hemoptysis, anemia, and diffuse alveolar infiltrates. HPO:probinson owl:Class HP:0005863 biolink:NamedThing Type E brachydactyly In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1862102|MSH:C566194 HP:0006115 human_phenotype owl:Class HP:0040251 biolink:NamedThing Hand dimple A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand. tmpxe7fu0cj_hp_relaxed.owl Hand dimples UMLS:C4280697 Use case: PMC4498842 owl:Class HP:0031336 biolink:NamedThing Intranuclear cardiomyocyte mitochondria Abnormal localization of mitochondria within the nuclei of cardiomyocytes. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 13:30:13+00:00 Electron microscopy of mammalian cardiac and skeletal muscle tissues reveal mitochondria as individual organelles situated either in clusters beneath the sarcolemma (subsarcolemmal mitochondria) or in longitudinal rows within the contractile apparatus (interfibrillar mitochondria). peter owl:Class HP:0031335 biolink:NamedThing Abnormal cardiomyocyte mitochondrial morphology An anomaly of the structure of mitochondria within cardiomyocytes. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 13:21:27+00:00 peter owl:Class HP:0005764 biolink:NamedThing Polyarticular arthritis tmpxe7fu0cj_hp_relaxed.owl UMLS:C0162323|MSH:D001168|SNOMEDCT_US:416956002|SNOMEDCT_US:417373000 human_phenotype owl:Class MAXO:0010211 biolink:NamedThing scrotal ultrasonography The use of ultrasound to produce images of structures in the scrotum. tmpxe7fu0cj_hp_relaxed.owl scrotum sonography|scrotum medical ultrasound|scrotum ultrasound examination|sonography of scrotum|scrotum diagnostic sonography|scrotum ultrasound procedure|scrotum ultrasound imaging procedure|ultrasonography of scrotum 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-2990 owl:Class HP:0003680 biolink:NamedThing Nonprogressive Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age. tmpxe7fu0cj_hp_relaxed.owl Nonprogressive disorder|Non-progressive|Nonprogressive course|Stationary|Does not worsen UMLS:C3839460|SNOMEDCT_US:702322003 HP:0003685 owl:Class HP:0005595 biolink:NamedThing Generalized hyperkeratosis tmpxe7fu0cj_hp_relaxed.owl Hyperkeratosis, generalised|Generalised hyperkeratosis|Hyperkeratosis, generalized UMLS:C1969913 human_phenotype owl:Class HP:0032428 biolink:NamedThing Increased HDL3a concentration An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. tmpxe7fu0cj_hp_relaxed.owl 2019-03-02 13:49:23+00:00 peter owl:Class HP:0012082 biolink:NamedThing Cerebellar Purkinje layer atrophy Atrophy of the cerebellum affecting primarily the Purkinje cell layer. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023053 peter 2012-08-18T05:31:43Z owl:Class HP:0006827 biolink:NamedThing Atrophy of the spinal cord tmpxe7fu0cj_hp_relaxed.owl Degeneration of the spinal cord UMLS:C1389102 human_phenotype owl:Class CL:0000412 biolink:NamedThing polyploid cell A cell whose nucleus, or nuclei, each contain more than two haploid genomes. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:4000023 biolink:NamedThing Anti-laminin gamma1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 14:34:05+00:00 Anti-laminin gamma1 pemphigoid (ALG1P) is an autoimmune subepidermal bullous disease characterized by autoantibodies to a 200-kDa acidic noncollagenous glycoprotein of the lower lamina lucida. In contrast, anti-laminin-332 mucous membrane pemphigoid (MMP) is an autoimmune blistering disease characterized by autoantibodies to various subunits of laminin-332 of the basement membrane. robinp owl:Class HP:0010697 biolink:NamedThing Anterior pyramidal cataract A type of anterior polar cataract which projects as a conical opacity into the anterior chamber. tmpxe7fu0cj_hp_relaxed.owl Pyramidal cataract UMLS:C1392099 peter 2010-03-20T02:38:57Z human_phenotype owl:Class HP:0012634 biolink:NamedThing Iris pigment dispersion Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022813 These pigment granules can accumulate in the trabucular meshwork and lead to increased intraocular pressure. That is coded separately as HP:001263. peter 2014-01-17T11:30:02Z human_phenotype owl:Class HP:0011241 biolink:NamedThing Serpiginous stem of antihelix Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha. tmpxe7fu0cj_hp_relaxed.owl Antihelix, stem, serpiginous UMLS:C4021193 peter 2011-12-18T11:35:53Z human_phenotype owl:Class HP:0011244 biolink:NamedThing Abnormality of stem of antihelix An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023445 peter 2011-12-18T11:50:01Z human_phenotype owl:Class HP:0040201 biolink:NamedThing Simultanapraxia A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073149 PhenoTips:CHum owl:Class HP:0000021 biolink:NamedThing Megacystis Dilatation of the bladder postnatally. tmpxe7fu0cj_hp_relaxed.owl MSH:C536139|UMLS:C1855311 HP:0002838 human_phenotype owl:Class HP:0031805 biolink:NamedThing Intraretinal hemorrhage A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. tmpxe7fu0cj_hp_relaxed.owl Intraretinal haemorrhage 2018-03-07 15:35:11+00:00 Although the fundoscopic appearence of an intraretinal hemorrhage can exibit significant variability it can typically be distinguished from a subretinal hemorrhage (occuring between the neurosensory retina and the RPE) or a sub-ILM hemorrhage (occuring between the internal limiting membrane and the neurosensory retina). peter owl:Class HP:0031244 biolink:NamedThing Swollen lip Enlargement of the lip typically due to fluid buildup or inflammation. tmpxe7fu0cj_hp_relaxed.owl Swelling of the lip 2017-08-12 13:02:05+00:00 peter owl:Class HP:0032953 biolink:NamedThing Renal tubular cytomegalovirus inclusions Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032942 biolink:NamedThing Avoidance of stimuli associated with traumatic event Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0025503 biolink:NamedThing Anomalous coronary artery arising from the opposite sinus Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 22:28:08+00:00 There are three sinus in the wall of the aorta just superior to the aortic semilunar valve. The right coronary artery normally arises from the right sinus of Valsalva (RSV) of the ascending aorta. The left main coronary artery (LMCA) normally arises from the left sinus of Valsava. The third sinus, the right posterior aortic sinus does not normally give rise to a coronary artery. HPO:probinson owl:Class HP:0031207 biolink:NamedThing Hepatic hemangioma A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size. tmpxe7fu0cj_hp_relaxed.owl Hemangioma of the liver|Liver hemangioma 2017-07-02 10:39:07+00:00 Hepatic hemangiomas are considered the most common benign mesenchymal hepatic tumors. They can be divided into two major groups: capillary hemangiomas and cavernous hemangiomas. peter owl:Class HP:0032020 biolink:NamedThing Eosinophilic bladder infiltration Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis. tmpxe7fu0cj_hp_relaxed.owl Eosinophilic cystitis 2018-08-25 15:48:26+00:00 peter owl:Class HP:0030772 biolink:NamedThing Proximal femoral focal deficiency Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:205211001|UMLS:C0431996 owl:Class HP:0012821 biolink:NamedThing Unilateral vocal cord paresis Decreased strength of the vocal fold on one side. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0751577|MSH:D014826 hecht 2014-05-28T09:25:11Z human_phenotype owl:Class HP:0031258 biolink:NamedThing Delirium A state of sudden and severe confusion. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 16:00:36+00:00 peter owl:Class HP:0000620 biolink:NamedThing Dacryocystitis Inflammation of the nasolacrimal sac. tmpxe7fu0cj_hp_relaxed.owl Dacrocystitis|Infection of the lacrimal sac UMLS:C0010930|MSH:D003607|SNOMEDCT_US:85777005 Dacrocystitis is frequently caused by nasolacrimal duct obstruction or infection, which often results from stagnation of tears in a pathologically closed lacrimal drainage system. Note also that dacryocystistis has often been misspelled as dacrocystitis in the literature, but the correct spelling is dacryocystitis. human_phenotype owl:Class HP:0011891 biolink:NamedThing Post-partum hemorrhage Significant maternal haemorrhage/blood loss following deilvery of a child. tmpxe7fu0cj_hp_relaxed.owl Post-partum haemorrhage|Bleeding post-delivery MSH:D006473|UMLS:C0032797|SNOMEDCT_US:47821001 peter 2012-06-02T11:35:46Z human_phenotype owl:Class GO:0006672 biolink:NamedThing ceramide metabolic process The chemical reactions and pathways involving ceramides, any N-acylated sphingoid. tmpxe7fu0cj_hp_relaxed.owl ceramide metabolism biological_process owl:Class HP:0033885 biolink:NamedThing Cortical radial artery lumen cholesterol emboli Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 20:02:50+00:00 peter owl:Class HP:0025440 biolink:NamedThing Warm reactive autoantibody positivity Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C. tmpxe7fu0cj_hp_relaxed.owl 2017-04-24 00:16:58+00:00 Warm reactive antibodies react with the patients own RBCs and typically bind to all reagent or donor RBCs against which they are tested. However, they sometimes have specificity (absolute or relative) for a blood group antigen, most commonly a member of the Rh blood group system. Warm reactive autoantibodies are usually polyclonal IgG antibodies, although IgA or monomeric IgM antibodies are seen occasionally. HPO:probinson owl:Class HP:0009969 biolink:NamedThing Partial duplication of the middle phalanx of the 3rd finger Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the middle bone of the 3rd finger UMLS:C4024138 doelkens 2009-05-26T12:49:59Z human_phenotype owl:Class CL:0002620 biolink:NamedThing skin fibroblast A fibroblast of skin. tmpxe7fu0cj_hp_relaxed.owl CALOHA:TS-0935|BTO:0001255 tmeehan 2011-03-14T12:31:49Z cell owl:Class HP:0011962 biolink:NamedThing Obstructive azoospermia Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023106 peter 2012-07-16T12:25:35Z human_phenotype owl:Class CHEBI:176843 biolink:NamedThing vitamin B12 Any member of a group of cobalamin vitamers that exhibit biological activity against vitamin B12 deficiency. Vitamin B12 deficiency is associated with low red blood cell count and anemia. The vitamers are found in foods such as cereals, meat, fish, and poultry. The vitamers include adenosylcobalamin, hydroxocobalamin, cyanocobalamin, aquacobalamin, nitritocobalamin and methylcobabalamin (also includes their ionized, salt and phosphate derivatives). tmpxe7fu0cj_hp_relaxed.owl vitamin B12|vitamin B-12|vitamins B12|vitamin B12 vitamer|vitamin B12 vitamers chebi_ontology owl:Class UBERON:0036301 biolink:NamedThing vasculature of spleen tmpxe7fu0cj_hp_relaxed.owl FMA:225251 uberon owl:Class HP:0010223 biolink:NamedThing Pseudoepiphysis of the 3rd metacarpal The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023961 doelkens 2009-07-02T04:10:52Z human_phenotype owl:Class HP:0030102 biolink:NamedThing Reduced muscle fiber alpha sarcoglycan A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Reduced muscle fibre alpha sarcoglycan UMLS:C4022643 owl:Class HP:0040143 biolink:NamedThing Dystopic os odontoideum Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus tmpxe7fu0cj_hp_relaxed.owl UMLS:C3552843 HPO:skoehler owl:Class UBERON:0007156 biolink:NamedThing inferior thyroid vein The inferior thyroid veins two, frequently three or four, in number, arise in the venous plexus on the thyroid gland, communicating with the middle and superior thyroid veins. They form a plexus in front of the trachea, behind the Sternothyreoidei. From this plexus, a left vein descends and joins the left innominate trunk, and a right vein passes obliquely downward and to the right across the innominate artery to open into the right innominate vein, just at its junction with the superior vena cava; sometimes the right and left veins open by a common trunk in the latter situation. These veins receive esophageal tracheal, and inferior laryngeal veins, and are provided with valves at their terminations in the innominate veins. tmpxe7fu0cj_hp_relaxed.owl inferior thyroid venous tree|vena thyroidea inferioris EMAPA:18763|FMA:4728 uberon owl:Class HP:0008573 biolink:NamedThing Low-frequency sensorineural hearing impairment A form of sensorineural hearing impairment that affects primarily the lower frequencies. tmpxe7fu0cj_hp_relaxed.owl Low-frequency sensorineural hearing loss UMLS:C3810445 human_phenotype owl:Class HP:0033301 biolink:NamedThing Elevated circulating 1-methylhistidine concentration An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 22:00:20+00:00 peter owl:Class HP:0031786 biolink:NamedThing Cogan lid twitch Transient eyelid retraction during refixation from down to straight ahead. tmpxe7fu0cj_hp_relaxed.owl Lid twitch|Cogan eyelid twitch|Eyelid twitch 2018-01-28 12:52:25+00:00 peter owl:Class HP:0025192 biolink:NamedThing Subtentorial periventricular white matter hyperdensity Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum). tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 23:09:22+00:00 HPO:probinson owl:Class HP:0010097 biolink:NamedThing Partial duplication of the distal phalanx of the hallux tmpxe7fu0cj_hp_relaxed.owl Bifid distal phalanx of hallux|Partial duplication of the outermost bone of big toe|Notched outermost bone of big toe UMLS:C4021337 doelkens 2009-05-29T12:19:30Z HP:0008091 human_phenotype owl:Class HP:0040197 biolink:NamedThing Encephalomalacia Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury. tmpxe7fu0cj_hp_relaxed.owl Cerebral softening SNOMEDCT_US:58762006|UMLS:C0014068|MSH:D004678 PhenoTips:CHum owl:Class HP:0008001 biolink:NamedThing Foveal hyperpigmentation Increased amount of pigmentation in the fovea centralis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3809301 human_phenotype owl:Class HP:0005781 biolink:NamedThing Contractures of the large joints tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859698 human_phenotype owl:Class HP:0007509 biolink:NamedThing Patchy hypo- and hyperpigmentation tmpxe7fu0cj_hp_relaxed.owl Patchy hypo- and hyper-pigmentation UMLS:C4021573 HP:0007487 human_phenotype owl:Class HP:0031186 biolink:NamedThing Abnormal circulating deoxycorticosterone level An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone. tmpxe7fu0cj_hp_relaxed.owl 2017-06-21 10:39:27+00:00 peter owl:Class HP:0031374 biolink:NamedThing Ankle weakness Reduced strength of the muscles that lift or otherwise move the foot at the ankle. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 01:47:35+00:00 peter owl:Class HP:0000331 biolink:NamedThing Short chin Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. tmpxe7fu0cj_hp_relaxed.owl Small chin|Short chin|Short lower third of face|Vertical deficiency of chin|Vertical hypoplasia of chin|Decreased height of chin UMLS:C1839323|SNOMEDCT_US:699439001|UMLS:C3697248 The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension). human_phenotype owl:Class CHEBI:47788 biolink:NamedThing 3-oxo steroid Any oxo steroid where an oxo substituent is located at position 3. tmpxe7fu0cj_hp_relaxed.owl 3-oxo steroids|a 3-oxosteroid|3-oxosteroids|3-Oxosteroid 0 C19H29OR 273.434 273.22184 C12C(C3C(C(CC3)*)(C)CC1)CCC4C2(CCC(C4)=O)C MetaCyc:3-Oxosteroids|KEGG:C01876|PMID:9811880 CHEBI:1653|CHEBI:71186|CHEBI:20182|CHEBI:13607 chebi_ontology owl:Class HP:0000586 biolink:NamedThing Shallow orbits Reduced depth of the orbits associated with prominent-appearing ocular globes. tmpxe7fu0cj_hp_relaxed.owl Decreased depth of eye sockets|Shallow eye sockets|Small shallow orbits|Decreased depth of orbits UMLS:C1865244 HP:0002706 human_phenotype owl:Class HP:0031870 biolink:NamedThing Phosphohydroxylysinuria An elevated concentration of phosphohydroxylysine in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-05-06 13:30:12+00:00 There are no clinical manifestations associated with phosphohydroxylysinuria other than the urinary metabolites. peter owl:Class HP:0010305 biolink:NamedThing Absence of the sacrum Absence (aplasia) of the sacrum. tmpxe7fu0cj_hp_relaxed.owl Absent sacrum|Sacral agenesis|Sacrococcygeal agenesis UMLS:C0344490|SNOMEDCT_US:205425003|MSH:C537221 peter 2009-07-12T01:13:26Z human_phenotype owl:Class HP:0003438 biolink:NamedThing Absent Achilles reflex Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. tmpxe7fu0cj_hp_relaxed.owl Absent ankle reflexes UMLS:C0558845|SNOMEDCT_US:274818004|MSH:D012021 HP:0007032|HP:0007241 human_phenotype owl:Class HP:0012370 biolink:NamedThing Prominence of the zygomatic bone Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'. tmpxe7fu0cj_hp_relaxed.owl Hyperplasia of zygomatic bone|Cheekbone excess|Cheekbone prominence|Prominence of cheekbone|Hyperplasia of cheekbone|Pronounced cheekbone|Malar hypertrophy|Zygomatic bone excess|Zygomatic hypertrophy SNOMEDCT_US:427888001|UMLS:C4082245|UMLS:C1997760|UMLS:C0375511 peter 2013-10-13T02:50:15Z human_phenotype owl:Class HP:0033866 biolink:NamedThing Medullary peritubular capillary erythrocyte congestion Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open). tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 19:01:20+00:00 peter owl:Class HP:0034073 biolink:NamedThing Reduced fetal long bone echogenicity An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis. tmpxe7fu0cj_hp_relaxed.owl 2021-12-18 14:49:43+00:00 peter owl:Class HP:0031625 biolink:NamedThing Pseudoaneurysm A contained rupture of an artery with a disruption in all 3 layers of the arterial wall. tmpxe7fu0cj_hp_relaxed.owl 2017-12-16 15:55:45+00:00 Pseudoaneurysms may occur under 4 circumstances: (1) after catheterization; (2) at the site of native artery and synthetic graft anastomosis (eg, aortofemoral bypass graft); (3) trauma; and (4) infection (eg, mycotic PSA). peter owl:Class HP:0002378 biolink:NamedThing Hand tremor An unintentional, oscillating to-and-fro muscle movement affecting the hand. tmpxe7fu0cj_hp_relaxed.owl tremors in hands|Tremor of hands|Hand tremor|Tremor of hand UMLS:C0239842 human_phenotype owl:Class HP:0008202 biolink:NamedThing Reduced circulating prolactin concentration A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production. tmpxe7fu0cj_hp_relaxed.owl Prolactin deficiency UMLS:C0271586|SNOMEDCT_US:67873006|MSH:C562708 human_phenotype owl:Class GO:0000016 biolink:NamedThing lactase activity Catalysis of the reaction: lactose + H2O = D-glucose + D-galactose. tmpxe7fu0cj_hp_relaxed.owl lactose galactohydrolase activity EC:3.2.1.108|Reactome:R-HSA-189062|MetaCyc:LACTASE-RXN|Reactome:R-HSA-5658001|RHEA:10076 molecular_function owl:Class GO:0004553 biolink:NamedThing hydrolase activity, hydrolyzing O-glycosyl compounds Catalysis of the hydrolysis of any O-glycosyl bond. tmpxe7fu0cj_hp_relaxed.owl O-glucosyl hydrolase activity Reactome:R-HSA-5694563|Reactome:R-HSA-6786652|Reactome:R-HSA-9661820|EC:3.2.1.- GO:0016800 molecular_function owl:Class HP:0031906 biolink:NamedThing Decreased total hemolytic complement activity An abnormally reduced total hemolytic complement activity in the circulation. tmpxe7fu0cj_hp_relaxed.owl 2018-05-19 15:27:49+00:00 peter owl:Class HP:0030863 biolink:NamedThing Nasal flaring Widening of the nostrils upon inhalation as a manifestation of respiratory distress. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0277873|SNOMEDCT_US:248568003|SNOMEDCT_US:21558008 Nasal flaring is a compensatory symptom that increases upper airway diameter and reduces resistance and work of breathing. owl:Class CHEBI:36830 biolink:NamedThing monoanion tmpxe7fu0cj_hp_relaxed.owl monoanions -1 chebi_ontology owl:Class HP:0012898 biolink:NamedThing Abnormal lower-limb motor evoked potentials An anomaly identified by motor evoked potentials (MEPs) in the leg. tmpxe7fu0cj_hp_relaxed.owl Abnormal motor evoked potentials in the lower limb UMLS:C4021058 peter 2014-06-23T11:09:22Z human_phenotype owl:Class HP:0005066 biolink:NamedThing Cone-shaped epiphyses fused within their metaphyses tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of long bone fused within their wide portion of wide bone UMLS:C4025255 human_phenotype owl:Class UBERON:0011965 biolink:NamedThing saddle joint In a saddle joint (sellar joint, articulation by reciprocal reception) the opposing surfaces are reciprocally concave-convex. tmpxe7fu0cj_hp_relaxed.owl sellar joint|articulation by reciprocal reception FMA:75298 uberon owl:Class CL:0000568 biolink:NamedThing amine precursor uptake and decarboxylation cell A cell that originates in the neural crest, that has certain cytochemical and ultrastructural characteristics and is found scattered throughout the body; types include melanocytes, the cells of the chromaffin system, and cells in the hypothalamus, hypophysis, thyroid, parathyroids, lungs, gastrointestinal tract, and pancreas. This cell type concentrates the amino acid precursors of certain amines and decarboxylate them, forming amines that function as regulators and neurotransmitters. This cell type produces substances such as epinephrine, norepinephrine, dopamine, serotonin, enkephalin, somatostatin, neurotensin, and substance P, the actions of which may affect contiguous cells, nearby groups of cells, or distant cells, thus functioning as local or systemic hormones. The name is an acronym for amine precursor uptake and decarboxylation cell. tmpxe7fu0cj_hp_relaxed.owl APUD cell BTO:0003866|FMA:83114 cell owl:Class HP:0002638 biolink:NamedThing Superficial thrombophlebitis Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:2477008|UMLS:C1510431 human_phenotype owl:Class HP:0032753 biolink:NamedThing Focal impaired awareness emotional seizure with agitation A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033973 biolink:NamedThing Interlobular vein medial hypertrophy Increased thickness of middle layer of the interlobular veins of the kidney. tmpxe7fu0cj_hp_relaxed.owl Medial hypertrophy within interlobular veins 2021-06-24 12:58:30+00:00 peter owl:Class HP:0030735 biolink:NamedThing Ureterovesical junction obstruction Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2609249 owl:Class HP:0030330 biolink:NamedThing Multinucleated giant chondrocytes in epiphyseal cartilage The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022506 owl:Class HP:0002851 biolink:NamedThing Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors UMLS:C1858973 HP:0002845 human_phenotype owl:Class HP:0000368 biolink:NamedThing Low-set, posteriorly rotated ears Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358). tmpxe7fu0cj_hp_relaxed.owl Low-set posteriorly rotated ears UMLS:C1857486 This bundled term is left for convenience because of its common use in the literature. It is preferable to code each feature separately. human_phenotype owl:Class HP:0000369 biolink:NamedThing Low-set ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. tmpxe7fu0cj_hp_relaxed.owl Lowset ears|Low-set ears|Low set ears|Melotia|Low-set pinnae UMLS:C0239234|SNOMEDCT_US:95515009 owl:Class HP:0001607 biolink:NamedThing Subglottic stenosis tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:22668006|UMLS:C0238441 human_phenotype owl:Class HP:0031054 biolink:NamedThing Long segment coarctation of the aorta Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta. tmpxe7fu0cj_hp_relaxed.owl 2017-05-27 17:10:07+00:00 peter owl:Class HP:0030610 biolink:NamedThing Photoreceptor outer segment loss on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073080 owl:Class PATO:0001848 biolink:NamedThing asymmetrically curved A curvature quality inhering in a bearer by virtue of the bearer's being curved asymmetrically. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0011657 biolink:NamedThing Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. tmpxe7fu0cj_hp_relaxed.owl DORV with subpulmonary VSD and pulmonary stenosis UMLS:C4023242 peter 2012-04-09T10:07:16Z human_phenotype owl:Class HP:0006565 biolink:NamedThing Increased hepatocellular lipid droplets An abnormal increase in the amount of intracellular lipid droplets in hepatocytes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025021 Lipid droplets, rich in triglycerides and cholesterol esters, are cellular lipid storage organelles. human_phenotype owl:Class CL:0000912 biolink:NamedThing helper T cell A effector T cell that provides help in the form of secreted cytokines to other immune cells. tmpxe7fu0cj_hp_relaxed.owl helper T-cell|T-helper cell|helper T lymphocyte|helper T-lymphocyte BTO:0002417 cell owl:Class HP:0010815 biolink:NamedThing Nevus sebaceous A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly. tmpxe7fu0cj_hp_relaxed.owl Sebaceous nevus|Naevus sebaceous|Organoid nevus|Sebaceous mole|Sebaceous naevus SNOMEDCT_US:239112008|UMLS:C3854181|SNOMEDCT_US:52298009|MSH:D054000|SNOMEDCT_US:707136009 peter 2010-07-10T12:07:03Z human_phenotype owl:Class HP:0001151 biolink:NamedThing Impaired horizontal smooth pursuit An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects. tmpxe7fu0cj_hp_relaxed.owl Abnormal horizontal ocular pursuit|Impaired horizontal visual pursuit UMLS:C1866753 human_phenotype owl:Class HP:0007772 biolink:NamedThing Impaired smooth pursuit An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. tmpxe7fu0cj_hp_relaxed.owl Abnormal visual pursuit|Impairment of visual pursuit|Abnormality of visual tracking UMLS:C1837458|UMLS:C1848530 HP:0008029 human_phenotype owl:Class CHEBI:65023 biolink:NamedThing anti-asthmatic agent Any compound that has anti-asthmatic effects. tmpxe7fu0cj_hp_relaxed.owl antiasthmatic agent|anti-asthmatic agents|antiasthmatic agents chebi_ontology owl:Class HP:0008187 biolink:NamedThing Absence of secondary sex characteristics No secondary sexual characteristics are present at puberty. tmpxe7fu0cj_hp_relaxed.owl No secondary sexual characteristics at puberty UMLS:C4021551 HP:0008674 human_phenotype owl:Class HP:0011562 biolink:NamedThing Straddling atrioventricular valve Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023297 Straddling and overriding atrioventricular valves usually occur in combination. peter 2012-04-07T12:13:57Z human_phenotype owl:Class HP:0034078 biolink:NamedThing Anti-centromere protein A antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A. tmpxe7fu0cj_hp_relaxed.owl Anti-CENP-A antibody positivity 2021-12-19 02:24:08+00:00 peter owl:Class MPATH:188 biolink:NamedThing immunopathological process Inappropriate or aberrant activation or suppression of the immune or inflammatory response. tmpxe7fu0cj_hp_relaxed.owl George Gkoutos mouse_pathology.ontology owl:Class HP:4000050 biolink:NamedThing Open fracture A type of fracture in which there is an open wound or break in the skin near the site of the broken bone. tmpxe7fu0cj_hp_relaxed.owl Compound fracture 2021-05-02 20:54:29+00:00 robinp owl:Class CL:0002294 biolink:NamedThing type-1 epithelial cell of thymus An epithelial cell with a well defined Golgi apparatus that makes up the continuous layer of cells bordering the thymic tissue beneath the capsule. tmpxe7fu0cj_hp_relaxed.owl subcapsular thymic epithelial cell FMA:72209 tmeehan 2010-09-13T02:37:23Z cell owl:Class CL:0002364 biolink:NamedThing cortical thymic epithelial cell An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. tmpxe7fu0cj_hp_relaxed.owl cTEC BTO:0004562 tmeehan 2010-09-23T03:17:12Z cell owl:Class HP:0025491 biolink:NamedThing Venous stenosis Narrowing of a vein due to intimal hyperplasia and fibrosis. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 19:22:38+00:00 Venous stenosis can be secondary to placement of central venous catheters, pacemaker leads, hemodialysis catheters, prior radiation, trauma, or extrinsic compression by musculoskeletal structures. HPO:probinson owl:Class HP:0011921 biolink:NamedThing Exudative pleural effusion A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:13841000119107|UMLS:C3887491 Transudates result from pneumonia, malignancy, thromboembolism, and other causes. peter 2012-06-08T07:35:47Z human_phenotype owl:Class HP:0012319 biolink:NamedThing Absent pigmentation of the abdomen Lack of skin pigmentation (coloring) of the abdomen. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022956 peter 2013-08-10T08:21:54Z human_phenotype owl:Class HP:0010869 biolink:NamedThing Asynergia A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:77743009|UMLS:C0234355 peter 2010-08-18T01:39:38Z human_phenotype owl:Class HP:0010867 biolink:NamedThing Dyssynergia A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. tmpxe7fu0cj_hp_relaxed.owl MSH:D001259|SNOMEDCT_US:39384006|SNOMEDCT_US:20262006|UMLS:C0004134 peter 2010-08-18T01:17:10Z human_phenotype owl:Class HP:0011005 biolink:NamedThing Mixed cirrhosis A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1392669 In mixed cirrhosis, there are regenerating nodules under and over 3 mm in size. peter 2011-02-17T09:01:14Z human_phenotype owl:Class HP:0011477 biolink:NamedThing Upbeat nystagmus In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:307677002|UMLS:C0585545 In most cases, paramedian lesions in the medulla oblongata or the midbrain are found, for example, in patients with multiple sclerosis, brainstem ischemia or tumors, or Wernicke's encephalopathy. peter 2012-04-01T10:54:17Z human_phenotype owl:Class HP:0002961 biolink:NamedThing Dysgammaglobulinemia Selective deficiency of one or more, but not all, classes of immunoglobulins. tmpxe7fu0cj_hp_relaxed.owl MSH:D004406|UMLS:C0013374|SNOMEDCT_US:123782009 human_phenotype owl:Class HP:0005550 biolink:NamedThing Chronic lymphatic leukemia A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias. tmpxe7fu0cj_hp_relaxed.owl Chronic lymphocytic leukemia|Chronic lymphocytic leukaemia|Chronic lymphatic leukaemia SNOMEDCT_US:51092000|SNOMEDCT_US:277473004|UMLS:C0023434|MSH:D015451|SNOMEDCT_US:92814006 HP:0006760|HP:0006734 human_phenotype owl:Class HP:0002033 biolink:NamedThing Poor suck An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. tmpxe7fu0cj_hp_relaxed.owl Sucking weakness|Poor suck|Poor sucking UMLS:C1837142 human_phenotype owl:Class HP:0033179 biolink:NamedThing Elevated circulating aconitic acid concentration An increased concentration of aconitic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-09-28 22:12:56+00:00 peter owl:Class HP:0500245 biolink:NamedThing Abnormal CSF citrulline concentration Any deviation from the normal concentration of citrulline in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal citrulline levels in cerebrospinal fluid 2019-02-26 15:48:42+00:00 owl:Class HP:0030160 biolink:NamedThing Cervicitis Inflammation of the uterine cervix. tmpxe7fu0cj_hp_relaxed.owl Uterine cervix inflammation|Uterine cervicitis UMLS:C0007860|MSH:D002575|SNOMEDCT_US:37610005 Cervicitis, which most commonly presents as vaginal discharge or postcoital bleeding, can be acute or chronic, with an infectious or noninfectious etiology. owl:Class HP:0033557 biolink:NamedThing Anti-proteinase 3 antibody positivity The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils tmpxe7fu0cj_hp_relaxed.owl Anti-PR3 antibody positivity 2021-01-23 12:05:09+00:00 PR3 directed c-ANCA antibodies are present in 80-90% of granulomatosis with polyangiitis, 20-40% of microscopic polyangiitis, 20-40% of pauci-immune crescentic glomerulonephritis and 35% of eosinophilic granulomatosis with polyangiitis. peter owl:Class PATO:0001851 biolink:NamedThing swollen A structure quality inhering in a bearer by virtue of the bearer's exhibiting transient abnormal enlargement, not due to cell proliferation. tmpxe7fu0cj_hp_relaxed.owl swelling quality owl:Class HP:0040123 biolink:NamedThing Impairment of the reflex of the tensor tympani muscle tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022424 HPO:skoehler owl:Class PATO:0002468 biolink:NamedThing distensible tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0011248 biolink:NamedThing Everted antitragus Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023444 peter 2011-12-18T12:11:37Z human_phenotype owl:Class HP:0002127 biolink:NamedThing Abnormal upper motor neuron morphology Any structural anomaly that affects the upper motor neuron. tmpxe7fu0cj_hp_relaxed.owl Abnormal shape of upper motor neuron UMLS:C4025723 previous def: 'has part' some (quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal)) human_phenotype owl:Class CHEBI:38304 biolink:NamedThing diazolidine tmpxe7fu0cj_hp_relaxed.owl diazolidines chebi_ontology owl:Class HP:0011667 biolink:NamedThing Bilateral superior vena cava with bridging vein tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023240 peter 2012-04-09T12:00:46Z owl:Class HP:0100937 biolink:NamedThing Sclerosis of the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the middle bone of the 4th toe UMLS:C4021921 human_phenotype owl:Class HP:0032979 biolink:NamedThing Hemosiderin-laden macrophages in bronchoalveolar fluid Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP). tmpxe7fu0cj_hp_relaxed.owl Siderophages in bronchoalveolar fluid|Accumulation of hemosiderin laden alveolar macrophages Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. peter owl:Class HP:0031218 biolink:NamedThing Inappropriate antidiuretic hormone secretion A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume. tmpxe7fu0cj_hp_relaxed.owl Inappropriate ADH secretion|Syndrome of inappropriate antidiuretic hormone secretion|SIADH 2017-07-02 11:46:17+00:00 Common etiologies of inappropriate antidiuretic hormone (ADH) secretion include nervous system disease, cancer, pulmonary disease, and as a side effect of a medication. This term is meant to refer to the inappropriately high level of ADH and not to the full syndrome of inappropriate antidiuretic hormone secretion (SIADH), which is considered a disease entity rather than a phenotypic feature. peter owl:Class HP:0033738 biolink:NamedThing Primary vesicoureteral reflux Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction. tmpxe7fu0cj_hp_relaxed.owl 2021-04-16 14:07:41+00:00 This term can be used together with a term to describe the grade of VUR. peter owl:Class HP:0012586 biolink:NamedThing Bilateral renal atrophy A two-sided form of atrophy of the kidney. tmpxe7fu0cj_hp_relaxed.owl Bilateral kidney degeneration UMLS:C4022835 peter 2014-01-16T03:21:55Z human_phenotype owl:Class HP:0032269 biolink:NamedThing Lemon sign Bifrontal flattening of the fetal head as observed by prenatal ultrasonographic examination, an appearance that is said to resemble a lemon. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 20:27:13+00:00 This sign represents the loss of the normal convex contour of the frontal bones, with flattening or inward scalloping, seen on a transverse fetal sonogram obtained at the biparietal diameter level. It has a strong association with spina bifida and is very useful for detecting this condition before 24 weeks of gestation in high-risk patients. It has high sensitivity and specificity. The lemon sign may disappear as gestational age advances and hence it is less reliable after 24 weeks. The sign is not specific for spina bifida and has also been seen in encephalocele, Dandy-Walker malformation with encephalocele, thanatophoric dysplasia, cystic hygroma, diaphragmatic hernia, corpus callosal agenesis, hydronephrosis, and umbilical vein varix. peter owl:Class PATO:0000689 biolink:NamedThing continuous A quality of a single process inhering in a bearer by virtue of the bearer's being uninterrupted in time, sequence, substance, or extent. tmpxe7fu0cj_hp_relaxed.owl uninterrupted PATO:0000429 quality owl:Class HP:0500105 biolink:NamedThing Decreased systolic blood pressure Abnormal decrease in systolic blood pressure. tmpxe7fu0cj_hp_relaxed.owl Decreased systolic BP|Reduced systolic blood pressure 2018-06-22 14:02:09+00:00 owl:Class HP:0031737 biolink:NamedThing Cicatricial entropion Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 13:41:39+00:00 peter owl:Class HP:0031026 biolink:NamedThing Snail-like ilia The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature. tmpxe7fu0cj_hp_relaxed.owl Schneckenbecken dysplasia|Snail-like pelvis|Snail-shaped ilia 2017-05-21 15:50:25+00:00 This feature was first observed in a condition that was termed Schneckenbecken dysplasia, Schneckenbecken is a German word that means snail-like pelvis. peter owl:Class HP:0031550 biolink:NamedThing Abnormal flow cytometry test result Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 23:18:11+00:00 peter owl:Class HP:0033425 biolink:NamedThing Periungual erythema Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 17:39:47+00:00 peter owl:Class HP:0041071 biolink:NamedThing Transient decreased circulating IgG3 A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Transient decreased IgG3 in blood owl:Class HP:0031358 biolink:NamedThing Vegetative state Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities). tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 15:49:29+00:00 peter owl:Class HP:0033365 biolink:NamedThing Endogenous lipoid pneumonia A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace. tmpxe7fu0cj_hp_relaxed.owl 2020-12-16 11:45:51+00:00 Endogenous lipoid pneumonia is a histopathologic diagnosis made on the basis of the characteristic appearance of the obstructive pneumonitis. Macroscopically, there is parenchymal consolidation that has a characteristic yellowish discoloration due to the accumulation of lipid in the alveoli. Histologically, there is an accumulation of lipid-filled macrophages and eosinophilic proteinaceous material derived from degenerating cells, including surfactant from type II pneumocytes, in the alveoli distal to the bronchial obstruction. peter owl:Class HP:0031798 biolink:NamedThing Elevated circulating apolipoprotein B concentration Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100. tmpxe7fu0cj_hp_relaxed.owl Elevated ApoB level|Elevated apolipoprotein B level 2018-02-25 15:02:46+00:00 peter owl:Class HP:0000629 biolink:NamedThing Periorbital fullness Increase in periorbital soft tissue. tmpxe7fu0cj_hp_relaxed.owl Fullness around the eyes|Puffy eyes|Periorbital puffiness|Puffiness around eye|Periorbital swelling|Swelling around the eyes UMLS:C1858036 human_phenotype owl:Class HP:0010033 biolink:NamedThing Triangular shaped 1st metacarpal This term applies to a triangular shaped 1st metacarpal. tmpxe7fu0cj_hp_relaxed.owl Triangular shaped 1st long bone of hand UMLS:C4024092 In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above). doelkens 2009-05-27T04:24:30Z human_phenotype owl:Class HP:0030258 biolink:NamedThing Hyperpigmented genitalia Localized or generalized increased genital pigmentation. tmpxe7fu0cj_hp_relaxed.owl Increased genital pigmentation|Penile melanosis UMLS:C4022554|UMLS:C4020713 This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hyperpigmentation can affect other parts of the body or be restricted to the genitalia. Genital hyperpigmentation can be generalized or localized. Localized areas of hyperpigmentation of the glans of the penis are especially common. This should be differentiated from Freckled genitalia in which one or more small, focal areas of hyperpigmentation are present. Localized hyperpigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hyperpigmentation may be more difficult to determine and is therefore a subjective manifestation. If the finding is localized, the description should be appended with a description of the affected part(s). owl:Class HP:0007530 biolink:NamedThing Punctate palmoplantar hyperkeratosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024851 human_phenotype owl:Class HP:0011996 biolink:NamedThing Elevated coagulation factor V activity Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. tmpxe7fu0cj_hp_relaxed.owl Plasma factor V elevated|Elevated factor V activity UMLS:C4021106 peter 2012-07-19T11:40:31Z human_phenotype owl:Class HP:0031899 biolink:NamedThing Abnormal coagulation factor V activity Any deviation from the activity of coagulation factor V. tmpxe7fu0cj_hp_relaxed.owl Abnormal factor V activity 2018-05-19 15:11:38+00:00 Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. peter owl:Class HP:0033597 biolink:NamedThing Decreased mucosal sucrase-isomaltase activity Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 13:48:50+00:00 Sucrase-isomaltase has two subunits, sucrase and isomaltase. Isomaltase cleaves branched (1-6 linked) alpha-limit dextrins, while sucrase digests sucrose, maltose, short 1-4 linked glucose oligomers, and some branched starches into sugar monomers for intestinal absorption. Deficiency of this enzyme can lead to osmotic diarrhea, mild steatorrhea, chronic diarrhea, irritability, and vomiting after consuming sucrose. peter owl:Class HP:0030542 biolink:NamedThing Unaided visual acuity 0.7 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073016 owl:Class HP:0030937 biolink:NamedThing Fibrotic muscularis propria The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process. tmpxe7fu0cj_hp_relaxed.owl 2016-12-02 21:21:03+00:00 robinp owl:Class HP:0012768 biolink:NamedThing Neonatal asphyxia Respiratory failure in the newborn. tmpxe7fu0cj_hp_relaxed.owl Asphyxia neonatorum MSH:D001238|UMLS:C0004045|SNOMEDCT_US:28314004|SNOMEDCT_US:413654009 peter 2014-04-07T12:39:08Z human_phenotype owl:Class GO:0061385 biolink:NamedThing fibroblast proliferation involved in heart morphogenesis The multiplication or reproduction of fibroblasts, resulting in the expansion of a fibroblast population that contributes to the shaping of the heart. tmpxe7fu0cj_hp_relaxed.owl dph 2011-02-10T01:41:59Z biological_process owl:Class HP:0031536 biolink:NamedThing Separate origin of the left anterior descending and left circumflex artery Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA). tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 01:16:29+00:00 peter owl:Class UBERON:0013502 biolink:NamedThing 5th arch mesenchyme A mesenchyme that is part of a pharyngeal arch 5. tmpxe7fu0cj_hp_relaxed.owl 5th branchial arch mesenchyme|5th pharyngeal arch mesenchyme|pharyngeal arch 5 mesenchyme uberon owl:Class HP:0000550 biolink:NamedThing Undetectable electroretinogram Lack of any response to stimulation upon electroretinography. tmpxe7fu0cj_hp_relaxed.owl Extinguished electroretinogram|Undetectable ERG|Abolished electroretinogram|Absent electroretinogram|No light-evoked response on electroretinogram|Extinction of electroretinogram UMLS:C1855685 HP:0008042 human_phenotype owl:Class HP:0011346 biolink:NamedThing Mild expressive language delay A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:62231000119108|UMLS:C3532934 peter 2012-03-01T08:46:23Z owl:Class HP:0004916 biolink:NamedThing Generalized distal tubular acidosis tmpxe7fu0cj_hp_relaxed.owl Generalised distal tubular acidosis UMLS:C4025275 human_phenotype owl:Class HP:0030345 biolink:NamedThing Abnormal circulating luteinizing hormone concentration An anomaly of the circulating level of luteinizing hormone (LH). tmpxe7fu0cj_hp_relaxed.owl Abnormal circulating luteinizing hormone level|Abnormal luteinizing hormone level|Increased circulating lutropin UMLS:C0580438|SNOMEDCT_US:166374003 owl:Class HP:0002853 biolink:NamedThing Increased proportion of HLA DR+ T cells An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1858974 human_phenotype owl:Class HP:0006153 biolink:NamedThing Disharmonious carpal bone tmpxe7fu0cj_hp_relaxed.owl Disharmonious wrist bone UMLS:C2675549 human_phenotype owl:Class HP:0005243 biolink:NamedThing Partial abdominal muscle agenesis Failure to form of portions of the abdominal musculature. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025228 human_phenotype owl:Class HP:0030840 biolink:NamedThing Ankle pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle. tmpxe7fu0cj_hp_relaxed.owl Ankle pain SNOMEDCT_US:202490009|SNOMEDCT_US:247373008|UMLS:C0238656 owl:Class PATO:0001025 biolink:NamedThing pressure A physical quality that inheres in a bearer by virtue of the bearer's amount of force per unit area it exerts. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class GO:0006558 biolink:NamedThing L-phenylalanine metabolic process The chemical reactions and pathways involving L-phenylalanine, the L-enantiomer of 2-amino-3-phenylpropanoic acid, i.e. (2S)-2-amino-3-phenylpropanoic acid. tmpxe7fu0cj_hp_relaxed.owl phenylalanine metabolism|phenylalanine metabolic process|L-phenylalanine metabolism biological_process owl:Class HP:0003400 biolink:NamedThing Basal lamina onion bulb formation A type of onion bulb formation prominently affecting the area of the basal lamina. tmpxe7fu0cj_hp_relaxed.owl Basal lamina 'onion bulb' formations on nerve biopsy UMLS:C1866637 human_phenotype owl:Class HP:0005681 biolink:NamedThing Juvenile rheumatoid arthritis tmpxe7fu0cj_hp_relaxed.owl Rheumatoid arthritis, juvenile|Juvenile idiopathic arthritis|Juvenile RA SNOMEDCT_US:410795001|UMLS:C3714757 human_phenotype owl:Class HP:0040117 biolink:NamedThing Atresia of the Eustachian tube tmpxe7fu0cj_hp_relaxed.owl UMLS:C1388953 HPO:skoehler owl:Class HP:0010519 biolink:NamedThing Increased fetal movement An abnormal increase in quantity or strength of fetal movements. tmpxe7fu0cj_hp_relaxed.owl Foetal hyperkinesia|Fetal hyperkinesia|Increased foetal movement UMLS:C4021256 peter 2009-09-20T10:44:15Z human_phenotype owl:Class HP:0033484 biolink:NamedThing Elevated circulating linoleylcarnitine concentration Increased concentration of linoleylcarnitine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated plasma linoleylcarnitine, C18:2 2021-01-10 12:30:41+00:00 peter owl:Class HP:0002248 biolink:NamedThing Hematemesis The vomiting of blood. tmpxe7fu0cj_hp_relaxed.owl Vomitting blood SNOMEDCT_US:8765009|UMLS:C0018926|MSH:D006396 The source of hematemesis is generally the upper gastrointestinal tract. human_phenotype owl:Class HP:0002886 biolink:NamedThing Vagal paraganglioma A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve. tmpxe7fu0cj_hp_relaxed.owl Vagal nerve tumours|Glomus vagale tumour|Glomus vagale paraganglioma|Vagal nerve tumors|Glomus vagale tumor SNOMEDCT_US:253030004|UMLS:C0474819 human_phenotype owl:Class HP:0033912 biolink:NamedThing Cortical radial artery medial atrophy Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. tmpxe7fu0cj_hp_relaxed.owl Medial atrophy within interlobular arteries|Interlobular artery medial atrophy 2021-06-23 23:09:41+00:00 peter owl:Class HP:0011823 biolink:NamedThing Chin with horizontal crease Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest. tmpxe7fu0cj_hp_relaxed.owl Chin with horizontal sulcus|Chin with horizontal crease|Chin with horizontal furrow|Chin with horizontal groove|Horizontal chin skin cleft|Horizontal menton crease UMLS:C4023171 peter 2012-04-30T08:33:02Z human_phenotype owl:Class HP:0030993 biolink:NamedThing Duplication of pancreatic duct A congenital anomaly characterized by the presence of two separate pancreatic ducts. tmpxe7fu0cj_hp_relaxed.owl Duplicated pancreatic duct 2017-05-13 13:55:22+00:00 peter owl:Class HP:0011255 biolink:NamedThing Absent crus of helix Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha. tmpxe7fu0cj_hp_relaxed.owl Helix, crus, absent UMLS:C4021185 peter 2011-12-18T05:50:59Z human_phenotype owl:Class HP:0007799 biolink:NamedThing Conjunctival whitish salt-like deposits The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968901 human_phenotype owl:Class GO:0016614 biolink:NamedThing oxidoreductase activity, acting on CH-OH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group act as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpxe7fu0cj_hp_relaxed.owl oxidoreductase activity, acting on the CH-OH group of donors, other acceptors EC:1.1.-.-|Reactome:R-HSA-1500781 molecular_function owl:Class HP:0410321 biolink:NamedThing Animal dander allergy Hypersensitivity in form of an adverse immune reaction against animal dander. tmpxe7fu0cj_hp_relaxed.owl Allergy to animal dander|Immunoglobulin E-mediated animal dander allergy|Animal dander allergy|IgE-mediated animal dander allergy owl:Class HP:0032631 biolink:NamedThing Intratubular hemoglobin casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. tmpxe7fu0cj_hp_relaxed.owl Intratubular haemoglobin casts peter owl:Class UBERON:8410033 biolink:NamedThing lymph node vein A vein where lymph node venules condense and which exits at the lymph node hilum. It is also called hilar vein. tmpxe7fu0cj_hp_relaxed.owl vein of lymph node|hilar vein of lymph node http://orcid.org/0000-0002-2825-0621 uberon owl:Class HP:0032050 biolink:NamedThing Focal cortical dysplasia type Ic A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 11:06:34+00:00 peter owl:Class HP:0032049 biolink:NamedThing Focal cortical dysplasia type Ib A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 11:05:32+00:00 peter owl:Class HP:0100034 biolink:NamedThing Motor tics Movement-based tics affecting discrete muscle groups. tmpxe7fu0cj_hp_relaxed.owl MSH:D020323|UMLS:C0751900 doelkens 2010-06-10T12:13:57Z human_phenotype owl:Class HP:0200122 biolink:NamedThing Atypical or prolonged hepatitis tmpxe7fu0cj_hp_relaxed.owl Atypical or prolonged liver inflammation UMLS:C1848456 sebastiankohler 2013-06-11T11:20:29Z human_phenotype owl:Class MAXO:0000138 biolink:NamedThing contrast-enhanced ultrasound procedure Ultrasound imaging following the administration of a microbubble contrast agent. tmpxe7fu0cj_hp_relaxed.owl CEUS 2019-01-21 20:17:52+00:00 NCIT:C148281 owl:Class HP:0033821 biolink:NamedThing Pulmonary mass A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:22:54+00:00 peter owl:Class HP:0007185 biolink:NamedThing Loss of consciousness tmpxe7fu0cj_hp_relaxed.owl Passing out|Loss of consciousness UMLS:C0041657|SNOMEDCT_US:419045004|SNOMEDCT_US:418107008|MSH:D014474 human_phenotype owl:Class HP:0011003 biolink:NamedThing High myopia A severe form of myopia with greater than -6.00 diopters. tmpxe7fu0cj_hp_relaxed.owl Severe myopia|Severe myopia (> -6.00 diopters)|Severe near sightedness|Severely close sighted|Severely near sighted UMLS:C0271183|SNOMEDCT_US:34187009 sdoelken 2011-02-13T12:56:48Z HP:0000569 human_phenotype owl:Class HP:0033361 biolink:NamedThing Nasal ulcer An open sore of the nasal mucosa. tmpxe7fu0cj_hp_relaxed.owl 2020-12-02 21:00:12+00:00 Nasal ulcers may occur due exogenous factors, such as trauma, pressure or inhalation of metals dust or aerosol. Nasal ulcers may also be a sign of an underlying disease, for example malignancies, infections (tuberculosis, leprosy, leishmaniasis), vasculitis (Wegener's granulomatosis, Churg-Strauss syndrome) or systemic lupus erythematosus. peter owl:Class HP:0030269 biolink:NamedThing Increased serum insulin-like growth factor 1 An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated serum IGF1|Increased serum insulin-like growth factor 1|Increased serum IGF1 UMLS:C2676198 Growth hormone and IGF-I are important regulators of bone homeostasis throughout life. During the prepubertal period, GH and IGF-I are determinants of longitudinal bone growth, skeletal maturation, and acquisition of bone mass, whereas in adults they are important in the maintenance of bone mass. owl:Class HP:0003719 biolink:NamedThing Muscle mounding tmpxe7fu0cj_hp_relaxed.owl UMLS:C1853702 Transient swelling of muscle induced by percussion. human_phenotype owl:Class MAXO:0010213 biolink:NamedThing stomach ultrasonography The use of ultrasound to produce images of structures in the stomach. tmpxe7fu0cj_hp_relaxed.owl ultrasonography of stomach|stomach diagnostic sonography|stomach ultrasound procedure|sonography of stomach|stomach ultrasound examination|stomach sonography|stomach ultrasound imaging procedure|stomach medical ultrasound 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-2995 owl:Class HP:0030122 biolink:NamedThing Reduced muscle fiber perlecan Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2). tmpxe7fu0cj_hp_relaxed.owl Reduced muscle fibre perlecan UMLS:C4022623 owl:Class HP:0033442 biolink:NamedThing Elevated circulating glutarylcarnitine concentration Increased concentration of glutarylcarnitine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating O-glutarylcarnitine concentration|Elevated plasma glutarylcarnitine, C5-DC 2021-01-09 18:45:58+00:00 peter owl:Class HP:0031502 biolink:NamedThing Trophoblastic tumor A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422]. tmpxe7fu0cj_hp_relaxed.owl Trophoblastic tumour 2017-09-18 01:07:36+00:00 peter owl:Class HP:0001716 biolink:NamedThing Wolff-Parkinson-White syndrome A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:74390002|MSH:D014927|UMLS:C0043202 human_phenotype owl:Class HP:0033861 biolink:NamedThing Multilamellation of cortical peritubular capillary basement membranes Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers. tmpxe7fu0cj_hp_relaxed.owl Multilamellation of basement membranes within cortical peritubular capillaries 2021-06-23 17:37:14+00:00 peter owl:Class HP:0033551 biolink:NamedThing Non-necrotizing pulmonary granulomatosis A granuloma located in the lung that is not associated with necrotic changes. tmpxe7fu0cj_hp_relaxed.owl Non-caseating pulmonary granulomatosis 2021-01-22 12:14:53+00:00 peter owl:Class HP:0002945 biolink:NamedThing Intervertebral space narrowing Decreased height of the intervertebral disk. tmpxe7fu0cj_hp_relaxed.owl Narrow intervertebral spaces|Narrow intervertebral disc spaces UMLS:C0263870|SNOMEDCT_US:11301007 A decrease in the height of the intervertebral disks is usually observed as a narrowing of the space between the vertebrae on X-ray examination. human_phenotype owl:Class HP:0030428 biolink:NamedThing Cutaneous myxoma A myxoma originating in the skin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1333178|NCIT:C6577 Cutaneous myxomas are sharply demarcated nodules of the dermis or subcutis that may occur as solitary lesions or in association with Carney complex. Microscopically, cutaneous myxomas in the Carney complex have sharp circumscription, hypocellularity, abundant myxoid stroma, prominent capillaries and an occasional epithelial component. owl:Class HP:0000295 biolink:NamedThing Doll-like facies A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin. tmpxe7fu0cj_hp_relaxed.owl Doll-like facial appearance UMLS:C1856361 This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely. human_phenotype owl:Class HP:0031774 biolink:NamedThing Posterior communicating artery infundibulum A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery. tmpxe7fu0cj_hp_relaxed.owl 2018-01-27 11:28:34+00:00 PCOM infundibula are often considered as normal anatomical variants devoid of pathogenic significance, but have been noted to progress to aneurysms in some cases. peter owl:Class HP:0004267 biolink:NamedThing Narrow small joints of the hand tmpxe7fu0cj_hp_relaxed.owl Narrow small joints of the hand UMLS:C4025382 human_phenotype owl:Class HP:0007081 biolink:NamedThing Late-onset muscular dystrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024942 human_phenotype owl:Class HP:0032563 biolink:NamedThing Dacryocytosis Presence of teardrop-shaped red blood cells. tmpxe7fu0cj_hp_relaxed.owl Tear-drop shaped erythrocytes|Dacryocytes 2019-06-15 00:47:45+00:00 peter owl:Class HP:0100565 biolink:NamedThing Hydromyelia Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:74740003|UMLS:C0152444|SNOMEDCT_US:11197005 doelkens 2010-12-21T04:35:22Z human_phenotype owl:Class HP:0100578 biolink:NamedThing Lipoatrophy Localized loss of fat tissue. tmpxe7fu0cj_hp_relaxed.owl Loss of fat tissue in localized area|Atrophy of fat|Loss of fat tissue in localised area SNOMEDCT_US:248315005|UMLS:C1280433|MEDDRA:10024604 This may occur as a result of subcutanous injections of insulin in the treatment of diabetes, from the use of human growth hormone or from subcutanous injections of Copaxone used for the treatment of multiple sclerosis. In the latter case, an injection may produce a small dent at the injection site. Lipoatrophy is also an adverse drug reaction that is associated with some antiretroviral drugs. doelkens 2010-12-27T12:55:33Z human_phenotype owl:Class HP:0007476 biolink:NamedThing Anhidrotic ectodermal dysplasia tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:7731005|UMLS:C1706004|MSH:D004476 human_phenotype owl:Class MPATH:346 biolink:NamedThing autoimmune mediated disease tmpxe7fu0cj_hp_relaxed.owl George Gkoutos 2011-03-22T01:12:01Z mouse_pathology.ontology owl:Class MPATH:194 biolink:NamedThing immune mediated disease Tissue response to inappropriate immune/inflammatory process. tmpxe7fu0cj_hp_relaxed.owl George Gkoutos mouse_pathology.ontology owl:Class PATO:0001845 biolink:NamedThing irregular rhythm A rhythm quality inhering in a bearer by virtue of the bearer's lacking rhythm lacking pattern. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0025384 biolink:NamedThing Diet-resistant subcutaneous adipose tissue Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. tmpxe7fu0cj_hp_relaxed.owl 2017-04-21 11:45:42+00:00 In certain diseases such as multiple symmetric lipomatosis, lipedema and Dercum's disease, accumulation of subcutaneous adipose tissue may result from growth of an abnormal brown stem cell population or from vascular or lymphatic dysfunction, with the result that the subcutaneous adipose tissue is difficult or impossible to reduce by caloric limitation and increased energy expenditure. HPO:probinson owl:Class HP:0012197 biolink:NamedThing Insulinoma A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia. tmpxe7fu0cj_hp_relaxed.owl Pancreatic insulinoma UMLS:C0021670|SNOMEDCT_US:25324008|MSH:D007340|SNOMEDCT_US:302822000 peter 2013-03-11T07:06:29Z human_phenotype owl:Class HP:0033376 biolink:NamedThing Alveolar septal thickening Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology. tmpxe7fu0cj_hp_relaxed.owl 2020-12-23 13:39:44+00:00 peter owl:Class HP:0007587 biolink:NamedThing Numerous pigmented freckles tmpxe7fu0cj_hp_relaxed.owl Numerous pigmented freckles UMLS:C1968565 human_phenotype owl:Class HP:0007740 biolink:NamedThing Long eyelashes in irregular rows tmpxe7fu0cj_hp_relaxed.owl Long eyelashes in irregular rows UMLS:C1850640 human_phenotype owl:Class UBERON:0010547 biolink:NamedThing pedal digit 1 metatarsal pre-cartilage condensation A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 1 mesenchyme. tmpxe7fu0cj_hp_relaxed.owl pedal digit I metatarsal pre-cartilage condensation|toe 1 metatarsal pre-cartilage condensation|foot digit 1 metatarsal pre-cartilage condensation|hind limb digit 1 metatarsal pre-cartilage condensation EHDAA2:0002040|EMAPA:17725 uberon owl:Class HP:0030522 biolink:NamedThing Mild constriction of peripheral visual field A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians. tmpxe7fu0cj_hp_relaxed.owl Mild peripheral visual field loss UMLS:C4072999 owl:Class HP:0033185 biolink:NamedThing Triggered by EBV infection Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus. tmpxe7fu0cj_hp_relaxed.owl Triggered by Epstein Barr virus infection 2020-10-04 11:48:39+00:00 peter owl:Class HP:0032257 biolink:NamedThing Disseminated histoplasmosis Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 18:15:01+00:00 peter owl:Class NBO:0000608 biolink:NamedThing hallucination "Perception in the absence of a stimulus." [wikipedia:Hallucination] HP:0000738 tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T03:52:31Z George Gkoutos behavior_ontology owl:Class HP:0025211 biolink:NamedThing Triggered by ethanol ingestion Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol. tmpxe7fu0cj_hp_relaxed.owl Triggered by alcohol ingestion|Ethanol ingestion triggered symptoms 2016-12-10 13:50:14+00:00 HPO:probinson owl:Class HP:0012578 biolink:NamedThing Membranous nephropathy A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. tmpxe7fu0cj_hp_relaxed.owl Membranous glomerulonephritis MSH:D015433|UMLS:C0017665|SNOMEDCT_US:77182004 peter 2014-01-16T01:22:41Z human_phenotype owl:Class UBERON:0018132 biolink:NamedThing tail fat pad Encapsulated adipose tissue that is part of a tail. tmpxe7fu0cj_hp_relaxed.owl tail fat depot uberon owl:Class The platypus uses its tail for storage of fat reserves (an adaptation also found in animals such as the Tasmanian devil and fat-tailed sheep) HP:0032295 biolink:NamedThing Monoclonal elevation of IgG lambda chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 22:43:13+00:00 peter owl:Class HP:0032292 biolink:NamedThing Monoclonal elevation of IgG light chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 22:41:08+00:00 Each monomeric IgG antibody consists of four chains: two heavy chains, providing class specificity, and two light chains, kappa or lambda. peter owl:Class HP:0031645 biolink:NamedThing Saccular abdominal aortic aneurysm An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 14:14:53+00:00 peter owl:Class HP:0006873 biolink:NamedThing Symmetrical progressive peripheral demyelination A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024972 human_phenotype owl:Class HP:0031170 biolink:NamedThing Female fetal virilization Fetal masculinization of female external genitalia. tmpxe7fu0cj_hp_relaxed.owl Female foetal virilization 2017-06-18 19:57:35+00:00 This anomaly can be observed with etiologies including 21-hydroxylase deficiency, pregnancy luteomas, and maternal intake of progesterones. peter owl:Class HP:0012301 biolink:NamedThing Type II transferrin isoform profile Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation. tmpxe7fu0cj_hp_relaxed.owl Abnormal isoelectric focusing of serum transferrin, type II pattern|Abnormal isoelectric focusing of serum transferrin, type 2 pattern|Type 2 transferrin isoform profile|Isoelectric focusing of serum transferrin consistent with CDG type II UMLS:C4021094 There are several methods in use with which this feature can be diagnosed. Using HPLC analysis increased mono- and trisialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the tri-sialo/di-oligosaccharide transferrin ratio is abnormal. peter 2013-04-14T08:55:20Z human_phenotype owl:Class HP:0031986 biolink:NamedThing Polyminimyoclonus Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant. tmpxe7fu0cj_hp_relaxed.owl 2018-07-09 01:38:21+00:00 peter owl:Class HP:0025415 biolink:NamedThing Bulbar urethral stricture A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 11:17:53+00:00 HPO:probinson owl:Class HP:0001975 biolink:NamedThing Decreased platelet glycoprotein IIb-IIIa Decreased cell membrane concentration of glycoprotein IIb-IIIa. tmpxe7fu0cj_hp_relaxed.owl Glanzmann thrombasthenia|Reduced level of platelet glycoprotein IIb/IIIa complex UMLS:C4021767|MSH:D013915|UMLS:C0040015|SNOMEDCT_US:32942005 The glycoprotein IIb-IIIa is an integrin complex found on platelets that acts a receptor for fibrinogen and aids in platelet activation. human_phenotype owl:Class HP:0003316 biolink:NamedThing Butterfly vertebrae A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. tmpxe7fu0cj_hp_relaxed.owl Butterfly vertebrae|Anterior rachischisis|Sagittal clefting of vertebrae UMLS:C1844752 owl:Class HP:0041053 biolink:NamedThing Fractured head A partial or complete breakage of the head. tmpxe7fu0cj_hp_relaxed.owl bone head owl:Class HP:0410369 biolink:NamedThing Increased hepatitis B virus antibody level An abnormally increased level of immunoglobulin against hepatitis B virus in the blood. tmpxe7fu0cj_hp_relaxed.owl owl:Class GO:0070453 biolink:NamedThing regulation of heme biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of heme. tmpxe7fu0cj_hp_relaxed.owl regulation of heme anabolism|regulation of haem biosynthesis|regulation of heme biosynthesis|regulation of heme formation|regulation of heme synthesis|regulation of haem biosynthetic process biological_process owl:Class HP:0008138 biolink:NamedThing Equinus calcaneus Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees. tmpxe7fu0cj_hp_relaxed.owl Hindfoot equinus|Equinus deformity of the calcaneus UMLS:C1860449 human_phenotype owl:Class HP:0010872 biolink:NamedThing T-wave inversion An inversion of the T-wave (which is normally positive). tmpxe7fu0cj_hp_relaxed.owl EKG: T-wave inversion UMLS:C0520888|SNOMEDCT_US:59931005 peter 2010-08-25T03:29:13Z human_phenotype owl:Class HP:0031778 biolink:NamedThing Incyclophoria A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other. tmpxe7fu0cj_hp_relaxed.owl 2018-01-27 11:40:45+00:00 peter owl:Class HP:0004051 biolink:NamedThing Advanced ossification of the hand bones Ossification of hand bones at an earlier age than normal. tmpxe7fu0cj_hp_relaxed.owl Accelerated maturation of hand bones|Advanced maturation of the hand bones UMLS:C4020834 human_phenotype owl:Class HP:0040285 biolink:NamedThing Excluded Present in 0% of the cases. tmpxe7fu0cj_hp_relaxed.owl Excluded (0%) ORPHA:453315 ORCID:0000-0002-5316-1399 owl:Class HP:0030324 biolink:NamedThing Bilateral vertebral artery hypoplasia Underdevelopment of the vertebral artery on both sides. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022511 owl:Class GO:0031401 biolink:NamedThing positive regulation of protein modification process Any process that activates or increases the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. tmpxe7fu0cj_hp_relaxed.owl stimulation of protein modification|up regulation of protein modification|up-regulation of protein modification|upregulation of protein modification|activation of protein modification biological_process owl:Class HP:0032021 biolink:NamedThing Eosinophilic liver infiltration Cellular infiltration of the liver parenchyma with a preponderance of eosinophils. tmpxe7fu0cj_hp_relaxed.owl Eosinophilic hepatitis 2018-08-25 15:51:03+00:00 peter owl:Class HP:0030714 biolink:NamedThing Subchorionic thrombohematoma A large maternal clot that separates the chorionic plate from the villous chorion. tmpxe7fu0cj_hp_relaxed.owl Breus' mole UMLS:C1390676 owl:Class HP:0031373 biolink:NamedThing Stiff tongue Increased rigidity and reduced mobility of the tongue. tmpxe7fu0cj_hp_relaxed.owl Tongue stiffness 2017-09-02 01:42:21+00:00 peter owl:Class HP:0033700 biolink:NamedThing Papulovesicular eruption An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point. tmpxe7fu0cj_hp_relaxed.owl Papulo-vesicular eruption 2021-03-07 23:10:27+00:00 peter owl:Class HP:0011316 biolink:NamedThing Left unicoronal synostosis Synostosis affecting only the left coronal suture. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023417 peter 2012-02-25T01:10:32Z human_phenotype owl:Class UBERON:0009655 biolink:NamedThing auricular artery An artery that supplies oxygenated blood to the ear. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1706858|NCIT:C52849|EMAPA:37072|MA:0001918 add child terms uberon owl:Class GO:0048860 biolink:NamedThing glioblast division The process resulting in the physical partitioning and separation of a glioblast into daughter cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0005170 biolink:NamedThing Complete heart block with broad QRS complexes A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861987 human_phenotype owl:Class CL:0000417 biolink:NamedThing endopolyploid cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0005910 biolink:NamedThing Rhomboid or triangular shaped 5th finger middle phalanx Rhomboid or triangular shaped 5th (little) finger middle phalanx. tmpxe7fu0cj_hp_relaxed.owl Rhomboid or triangular shaped fifth finger middle phalanx UMLS:C4021616 human_phenotype owl:Class HP:0008470 biolink:NamedThing Lower thoracic interpediculate narrowness A reduction of the distance between the lower thoracic vertebral pedicles. tmpxe7fu0cj_hp_relaxed.owl Narrowness of interpediculate distances in lower thoracic regions UMLS:C1854940 human_phenotype owl:Class HP:0000030 biolink:NamedThing Testicular gonadoblastoma The presence of a gonadoblastoma of the testis. tmpxe7fu0cj_hp_relaxed.owl Gonadoblastoma, male NCIT:C3754|UMLS:C1515283 human_phenotype owl:Class HP:0004380 biolink:NamedThing Aortic valve calcification Deposition of calcium salts in the aortic valve. tmpxe7fu0cj_hp_relaxed.owl MSH:C562942|UMLS:C0428791|SNOMEDCT_US:250978003 peter 2008-03-18T08:52:00Z HP:0004759|HP:0005173 owl:Class HP:0500095 biolink:NamedThing Food-induced anaphylaxis Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food. tmpxe7fu0cj_hp_relaxed.owl 2018-04-27 19:55:30+00:00 owl:Class HP:0012453 biolink:NamedThing Bilateral wrist flexion contracture A chronic loss of wrist joint motion on the right and left sides. tmpxe7fu0cj_hp_relaxed.owl Bilateral wrist contracture UMLS:C4022899|UMLS:C4020723 peter 2013-11-23T07:58:50Z human_phenotype owl:Class HP:0025261 biolink:NamedThing Stiff finger A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity. tmpxe7fu0cj_hp_relaxed.owl Stiff finger|Finger stiffness 2016-12-18 01:13:47+00:00 HPO:probinson owl:Class HP:0030337 biolink:NamedThing Elevated CD4-positive, CD25-positive regulatory T cell count An increased number of CD4-positive, CD25-positive regulatory T cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022501 owl:Class HP:0031174 biolink:NamedThing Double-layered patella An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood. tmpxe7fu0cj_hp_relaxed.owl 2017-06-18 20:08:32+00:00 This feature can be observed in Multiple epiphyseal dysplasia type 4. It is distinct from bipartite patella, which is characterized by an unfused accessory ossification center at the superolateral aspect of the patella. Double layer patella appears to be caused by the presence of several patellar ossification centers. peter owl:Class HP:0031154 biolink:NamedThing Beaded vitreous appearance Vitreous humor of the eye displaying beaded bundles of irregular diameters. tmpxe7fu0cj_hp_relaxed.owl 2017-06-18 13:18:06+00:00 peter owl:Class HP:0000725 biolink:NamedThing Psychotic episodes tmpxe7fu0cj_hp_relaxed.owl Psychotic episodes UMLS:C0338614 human_phenotype owl:Class HP:0031560 biolink:NamedThing Coronary cameral fistula An abnormal communication between coronary artery and a cardiac chamber. tmpxe7fu0cj_hp_relaxed.owl 2017-09-29 11:27:41+00:00 Fyler:2233 Coronary cameral fistulas are usually congenital and asymptomatic in majority of patients. peter owl:Class PATO:0001818 biolink:NamedThing progressive A quality of a single process inhering in a bearer by virtue of the bearer's increasing over time. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0025643 biolink:NamedThing Tarlov cyst A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine. tmpxe7fu0cj_hp_relaxed.owl Perineural cyst 2019-07-24 09:26:34+00:00 HPO:probinson owl:Class HP:0500216 biolink:NamedThing Abnormal CSF aspartate concentration Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Abnormal aspartic acid levels in cerebrospinal fluid|Abnormal CSF aspartic acid concentration 2019-02-25 19:31:26+00:00 owl:Class HP:0031600 biolink:NamedThing P wave inversion P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves. tmpxe7fu0cj_hp_relaxed.owl 2017-10-15 14:02:33+00:00 peter owl:Class HP:0012521 biolink:NamedThing Optic nerve aplasia Congenital absence of the optic nerve. tmpxe7fu0cj_hp_relaxed.owl Aplastic optic nerve|Absent optic nerve UMLS:C4021084 peter 2013-12-12T02:15:31Z human_phenotype owl:Class HP:0008020 biolink:NamedThing Cone dystrophy Inherited progressive cone degeneration. tmpxe7fu0cj_hp_relaxed.owl Progressive cone degeneration|Progressive cone dystrophy UMLS:C3665342|UMLS:C0730290 HP:0007789 owl:Class HP:0030235 biolink:NamedThing Extremely elevated creatine kinase An increased creatine kinase level more than 50X above the upper normal level. tmpxe7fu0cj_hp_relaxed.owl Extremely elevated serum CK level|Extremely elevated phospho-CK serum level|Extremely elevated CPK|Extremely high CPK level|Extremely elevated creatine phosphokinase UMLS:C4022564 owl:Class HP:0031921 biolink:NamedThing Gastrocnemius myalgia Pain of the gastrocnemius muscle. tmpxe7fu0cj_hp_relaxed.owl Calf muscle pain|Calf myalgia 2018-07-04 11:57:08+00:00 The gastrocnemius is located together with the soleus muscle in the calf of the leg. Gastrocnemius myalgia refers to pain and tenderness in this muscle with a course of weeks or months or more. Gastrocnemius myalgia is a rarely observed initial manifestion of Crohn disease. peter owl:Class PATO:0001468 biolink:NamedThing curved dorsal A curvature quality inhering in a bearer by virtue of the bearer's being curved towards the back or upper surface of an organism. tmpxe7fu0cj_hp_relaxed.owl curved posterior (human torso)|curved superior (human head) quality owl:Class HP:0030995 biolink:NamedThing Peritoneal effusion An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 14:07:02+00:00 peter owl:Class GO:0009250 biolink:NamedThing glucan biosynthetic process tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0100473 biolink:NamedThing Symphalangism affecting the proximal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl Fused innermost bone of 3rd toe UMLS:C4022054 human_phenotype owl:Class HP:0031679 biolink:NamedThing Type I atherosclerotic lesion Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells). tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 17:29:15+00:00 Type I lesions consist of the first microscopically and chemically detectable lipid deposits in the intima and the cell reactions associated with such deposits.The initial histological changes in the human intima are minimal. Small, isolated groups of macrophages containing lipid droplets (macrophage foam cells) form. In coronary arteries these cells pref- erentially accumulate in regions of the intima that have an adaptive intimal thickening of the eccentric type. peter owl:Class PATO:0000318 biolink:NamedThing blue A color hue with low wavelength of that portion of the visible spectrum lying between green and indigo, evoked in the human observer by radiant energy with wavelengths of approximately 420 to 490 nanometers. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0025531 biolink:NamedThing Harlequin phenomenon The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body. tmpxe7fu0cj_hp_relaxed.owl 2017-05-18 00:38:26+00:00 The Harlequin phenomenon (HF) is most common in the newborn and can be a generalized phenomenon or only involve a specific body area. The HF of the newborn is thought to be secondary to a relative hypothalamic control immaturity of the sympathetic peripheral vascular tonus, although it has also been described in other age groups, primarily located to the face and neck and mostly caused by a sympathetic disautonomy. While certainly peculiar, the HF is a benign event in the newborn. HPO:probinson owl:Class UBERON:0010952 biolink:NamedThing frontalis muscle belly A belly of the occipitofrontalis muscle that is near the frontal bone. tmpxe7fu0cj_hp_relaxed.owl venter frontalis musculi occipitofrontalis|venter frontalis musculus occipitofrontalis|frontal belly of occipitofrontalis|orbito-temporo-auricularis|frontalis|venter frontalis (musculus occipitofrontalis)|frontalis muscke|frontal part of occipitofrontalis|frontal belly of occipitofrontalis muscle FMA:46757 Musculus:frontalis.png uberon owl:Class HP:0033759 biolink:NamedThing Impaired renal tubular reabsorption of magnesium Decreased renal tubular reabsorption of magnesium. tmpxe7fu0cj_hp_relaxed.owl 2021-04-28 13:05:35+00:00 96% of filtered magnesium is reabsorbed in the tubule. 10%-30% of the filtered magnesium is absorbed in the proximal tubule, the thick ascending limb absorbs 40%-70% of filtered magnesium. peter owl:Class PR:000012234 biolink:NamedThing phenylalanine-4-hydroxylase A protein that is a translation product of the human PAH gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl Phe-4-monooxygenase|PAH IUPHARobj:1240 Category=gene. protein owl:Class HP:0033236 biolink:NamedThing Cognitive fatigue A failure to sustain attention that requires self-motivation to optimize performance. tmpxe7fu0cj_hp_relaxed.owl Central fatigue 2020-10-31 13:20:08+00:00 Cognitive fatigue may be observed as decreased performance following prolonged effort over an extended period of time; decreased performance after a challenging mental exertion; decreased performance after a challenging physical exertion; and decreased performance during acute but sustained mental effort. peter owl:Class HP:0008122 biolink:NamedThing Calcaneonavicular fusion Synostosis of the calcaneus with the navicular bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024730 human_phenotype owl:Class HP:0008007 biolink:NamedThing Primary congenital glaucoma tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:415176004|UMLS:C1533041 human_phenotype owl:Class HP:0020155 biolink:NamedThing Abnormal oocyte morphology An abnormal structure of the female germ cell (egg cell). tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-06 18:45:54+00:00 owl:Class HP:0001097 biolink:NamedThing Keratoconjunctivitis sicca Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. tmpxe7fu0cj_hp_relaxed.owl Keratitis sicca|Dry eye syndrome|Xerophthalmia|Dry eyes SNOMEDCT_US:363677007|MSH:D015352|MSH:C531719|UMLS:C0043349|SNOMEDCT_US:302896008|UMLS:C2930821|SNOMEDCT_US:46152009|MSH:D007638|UMLS:C0022575|UMLS:C0013238|MSH:D014985 human_phenotype owl:Class HP:0009031 biolink:NamedThing Amyotrophy of ankle musculature Atrophy of the muscles of the ankle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024604 human_phenotype owl:Class HP:0007603 biolink:NamedThing Freckles in sun-exposed areas tmpxe7fu0cj_hp_relaxed.owl Freckles in sun-exposed areas UMLS:C1859923 human_phenotype owl:Class HP:4000047 biolink:NamedThing Compression fracture A type of fracture in which the bone is crushed, causing the broken bone to be wider or flatter in appearance. tmpxe7fu0cj_hp_relaxed.owl Wedge fracture 2021-05-02 20:51:49+00:00 robinp owl:Class HP:0030080 biolink:NamedThing Burkitt lymphoma A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0006413|MSH:D002051|SNOMEDCT_US:118617000|SNOMEDCT_US:77381001|SNOMEDCT_US:22197008|SNOMEDCT_US:397400006|SNOMEDCT_US:277571004 owl:Class HP:0008677 biolink:NamedThing Congenital nephrotic syndrome Nephrotic syndrome with onset within the first three months of life. tmpxe7fu0cj_hp_relaxed.owl Congenital nephrosis MSH:C535761|SNOMEDCT_US:48796009|UMLS:C3501848 human_phenotype owl:Class HP:0004112 biolink:NamedThing Midline nasal groove An abnormal groove on the midline of the nose that may extend to the nasal tip. tmpxe7fu0cj_hp_relaxed.owl Midline nasal groove|Central nasal groove UMLS:C4025412 peter 2009-01-21T04:59:08Z human_phenotype owl:Class HP:0030923 biolink:NamedThing 5-minute APGAR score of 3 tmpxe7fu0cj_hp_relaxed.owl 2016-11-07 18:14:36+00:00 robinp owl:Class HP:0032945 biolink:NamedThing Renal interstitial inflammation Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0001962 biolink:NamedThing Palpitations A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. tmpxe7fu0cj_hp_relaxed.owl Missed heart beat|Palpitations|Heart palpitations|Skipped heart beat SNOMEDCT_US:80313002|UMLS:C0030252 HP:0001676 human_phenotype owl:Class HP:0032189 biolink:NamedThing Cellular hypersensitivity to diepoxybutane An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. tmpxe7fu0cj_hp_relaxed.owl 2019-01-15 11:20:48+00:00 Cellular hypersensitivity to diepoxybutane is used in diagnostic criteria for Fanconi Anemia. peter owl:Class HP:0011170 biolink:NamedThing Generalized myoclonic-atonic seizure A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component. tmpxe7fu0cj_hp_relaxed.owl Generalised myoclonic-atonic seizure|Myoclonic-astatic seizure|Myoclonic atonic seizures SNOMEDCT_US:230421008|MSH:D004831|UMLS:C0393702 A myoclonic-tonic seizure was previously called a myoclonic-astatic seizure. ILAE2017 does not currently consider myoclonic-atonic seizures to be a form of myoclonic seizure which is why it is classified as a motor seizure. hecht 2011-11-19T10:00:46Z human_phenotype owl:Class HP:0033411 biolink:NamedThing Lower extremity akinesia Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 16:29:00+00:00 Akinesia of the lower extremities peter owl:Class GO:0044815 biolink:NamedThing DNA packaging complex A protein complex that plays a role in the process of DNA packaging. tmpxe7fu0cj_hp_relaxed.owl jl 2013-09-19T11:33:45Z cellular_component owl:Class HP:0034064 biolink:NamedThing Anti-salivary protein antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein. tmpxe7fu0cj_hp_relaxed.owl Anti-SP1 antibody positivity 2021-12-18 14:18:22+00:00 peter owl:Class HP:0010864 biolink:NamedThing Intellectual disability, severe Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. tmpxe7fu0cj_hp_relaxed.owl Severe mental retardation|Mental retardation, severe|Intellectual disability, severe|Early and severe mental retardation SNOMEDCT_US:40700009|UMLS:C0036857 Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision. peter 2010-08-03T06:29:35Z HP:0007196 human_phenotype owl:Class HP:0025706 biolink:NamedThing Absent fetal nasal bone The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy. tmpxe7fu0cj_hp_relaxed.owl Unossified nasal bone|Absence of fetal nasal bone See Figure 1 of PMID:23324624. peterrobinson owl:Class HP:0025705 biolink:NamedThing Abnormal fetal nasal bone visualization Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0007007 biolink:NamedThing Cavitation of the basal ganglia The formation of small cavities in the tissue of the basal ganglia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024952 This feature can be observed in tissue upon autopsy or in magnetic resonance tomography (MRI) images. HP:0007246 human_phenotype owl:Class HP:0030580 biolink:NamedThing Pinhole visual acuity 1.2 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073053 owl:Class HP:0012588 biolink:NamedThing Steroid-resistant nephrotic syndrome A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. tmpxe7fu0cj_hp_relaxed.owl SRNS UMLS:C0403397|SNOMEDCT_US:236381000 Genetic studies and biopsy are necessary. Treatment depends on result. Genetic forms are treated symptomatically with ACE-inhibitor or angiotensin receptor blockers. Non-genetic forms are usually treated with calcineurin inhibitors. Prognosis is worse than in SSNS. 50 % progress into end-stage renal disease. peter 2014-01-16T03:47:57Z owl:Class HP:0009099 biolink:NamedThing Median cleft palate Cleft palate of the midline of the palate. tmpxe7fu0cj_hp_relaxed.owl Midline cleft palate|Central cleft palate UMLS:C1850968 human_phenotype owl:Class HP:0007015 biolink:NamedThing Poor gross motor coordination An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts. tmpxe7fu0cj_hp_relaxed.owl Gross motor impairment UMLS:C1867863 human_phenotype owl:Class HP:0007867 biolink:NamedThing Restrictive partial external ophthalmoplegia Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024781 human_phenotype owl:Class HP:0031920 biolink:NamedThing Malignant ovarian granulosa cell tumor An aggressive granulosa cell tumor that arises from the ovary. tmpxe7fu0cj_hp_relaxed.owl Malignant ovarian granulosa cell tumour 2018-07-02 11:18:43+00:00 peter owl:Class HP:0012789 biolink:NamedThing Hypoplasia of the calcaneus Underdevelopment of the heel bone. tmpxe7fu0cj_hp_relaxed.owl Underdeveloped heel bone|Small heel bone|Hypoplastic calcaneus UMLS:C3550873 peter 2014-04-22T09:58:48Z human_phenotype owl:Class NCBITaxon:2058949 biolink:NamedThing Dictyosteliales tmpxe7fu0cj_hp_relaxed.owl GC_ID:1|PMID:29367151 ncbi_taxonomy owl:Class HP:0033256 biolink:NamedThing Pancolitis Inflammation of the entire colon. tmpxe7fu0cj_hp_relaxed.owl 2020-11-27 19:37:38+00:00 peter owl:Class HP:0032571 biolink:NamedThing Increased oocyte death An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011987 biolink:NamedThing Ectopic ossification in muscle tissue Formation of abnormal bony tissue within muscle tissue. tmpxe7fu0cj_hp_relaxed.owl Calcification of muscle tissue UMLS:C4023096 peter 2012-07-19T10:46:03Z human_phenotype owl:Class HP:0025666 biolink:NamedThing Very preterm birth Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks). tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0030233 biolink:NamedThing Bethlem sign Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures. tmpxe7fu0cj_hp_relaxed.owl Bethlem phenomenon UMLS:C4021042 owl:Class HP:0025437 biolink:NamedThing Macrocephalic sperm head Increased size of the head of sperm. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 17:25:02+00:00 HPO:probinson owl:Class HP:0032026 biolink:NamedThing Anetoderma Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis. tmpxe7fu0cj_hp_relaxed.owl 2018-09-01 14:38:17+00:00 Anetoderma is a skin disorder characterized by focal loss of dermal elastic tissue. Clinically, it can present as various types of flaccid skin, such as protruding (raised), indented (depressed), or flat. peter owl:Class HP:0006735 biolink:NamedThing Renal cortical adenoma The presence of an adenoma in the cortex of the kidney. tmpxe7fu0cj_hp_relaxed.owl Kidney cortical adenoma NCIT:C2855|SNOMEDCT_US:254919009|UMLS:C0346253 human_phenotype owl:Class PATO:0002161 biolink:NamedThing bicornuate Having two horns or horn-shaped branches. tmpxe7fu0cj_hp_relaxed.owl 2009-11-11T02:37:52Z quality owl:Class HP:0011614 biolink:NamedThing Interrupted aortic arch type C Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0345094|SNOMEDCT_US:253683008 peter 2012-04-08T03:19:48Z human_phenotype owl:Class HP:0000793 biolink:NamedThing Membranoproliferative glomerulonephritis A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity tmpxe7fu0cj_hp_relaxed.owl Mesangiocapillary glomerulonephritis|MPGN SNOMEDCT_US:80321008|MSH:D015432|UMLS:C0017662 human_phenotype owl:Class HP:0000007 biolink:NamedThing Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). tmpxe7fu0cj_hp_relaxed.owl Autosomal recessive form|Autosomal recessive|Autosomal recessive predisposition UMLS:C0441748|SNOMEDCT_US:258211005|UMLS:C4020899 HP:0001526|HP:0001416 human_phenotype owl:Class HP:0032110 biolink:NamedThing Severely reduced contrast sensitivity A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss. tmpxe7fu0cj_hp_relaxed.owl 2018-11-17 14:20:27+00:00 peter owl:Class HP:0030394 biolink:NamedThing Fallopian tube carcinoma Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:276870001|MSH:D005185|UMLS:C0238122 owl:Class HP:0025448 biolink:NamedThing Anterior displacement of the papillary muscles Abnormally anterior location of the papillary muscles of the left ventricle. tmpxe7fu0cj_hp_relaxed.owl Anteriorly displaced papillary muscles 2017-04-30 11:00:35+00:00 Possible mechanisms for systolic anterior motion with anterior displacement of the papillary muscles (PM): (1) the normal posterior component of PM tension is reduced by anterior displacement of the muscle tips; (2) interposing the leaflets into the streamlines of flow causes drag forces with an anterior component; and (3) pulling up the posterior leaflet so that it meets the anterior leaflet closer to its base creates a long, overlapping residual leaflet, as seen clinically. This leaflet portion is relatively free to move anteriorly, unlike the coapted leaflet bodies that are restrained by the balance of ventricular and atrial pressures acting across them. The angle between the posterior leaflet and posterior wall is increased [PMID:7850958]. HPO:probinson owl:Class HP:0025447 biolink:NamedThing Displacement of the papillary muscles Abnormal location of the insertion of a papillary muscle into the left ventricular wall. tmpxe7fu0cj_hp_relaxed.owl 2017-04-30 10:59:28+00:00 HPO:probinson owl:Class UBERON:0036246 biolink:NamedThing incudostapedial joint The small synovial joint connecting the inclus and the stapes, located between the lenticular process on the long crus of the incus and the head of the stapes. tmpxe7fu0cj_hp_relaxed.owl articulatio incudostapedialis|incudostapedial articulation FMA:60065 uberon owl:Class HP:0011659 biolink:NamedThing Tetralogy of Fallot with absent pulmonary valve Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue. tmpxe7fu0cj_hp_relaxed.owl Tetralogy of Fallot with absent pulmonary valve syndrome UMLS:C1302264|SNOMEDCT_US:399228007 peter 2012-04-09T10:15:04Z human_phenotype owl:Class HP:0033782 biolink:NamedThing Semilunar tooth An incisor with a half-moon shape incisal edge. tmpxe7fu0cj_hp_relaxed.owl Hutchinson incisor|Semicircular tooth|Crescent-shape tooth|Tooth, semilunar 2021-05-07 10:21:03+00:00 If a notch occupies most of incisal edge, it has been indicated as semilunar teeth or crescent-shaped. peter owl:Class HP:0008090 biolink:NamedThing Ankylosis of feet small joints tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024732 human_phenotype owl:Class HP:0006224 biolink:NamedThing Tapering pointed ends of distal finger phalanges A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025078 human_phenotype owl:Class HP:0033238 biolink:NamedThing Podocyte microvillous transformation Cytoplasmic projections into the urinary space from the luminal side of the podocyte. tmpxe7fu0cj_hp_relaxed.owl 2020-11-01 12:39:45+00:00 peter owl:Class HP:0032480 biolink:NamedThing Beta-aminoisobutyric aciduria An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine. tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 12:49:03+00:00 peter owl:Class HP:0001038 biolink:NamedThing Warfarin-induced skin necrosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C1867638 human_phenotype owl:Class HP:0025325 biolink:NamedThing Sparse medial eyebrow Decreased density/number and/or decreased diameter of medial eyebrow hairs. tmpxe7fu0cj_hp_relaxed.owl Medial thinning of eyebrow 2017-02-04 16:43:31+00:00 HPO:probinson owl:Class HP:0011228 biolink:NamedThing Horizontal eyebrow An eyebrow that extends straight across the brow, without curve. tmpxe7fu0cj_hp_relaxed.owl Horizontal eyebrow|Straight eyebrow|Flat eyebrow|Lack of eyebrow arch|Straight eyebrows|Lack of eyebrow curvature UMLS:C3277019 peter 2011-12-14T08:18:29Z human_phenotype owl:Class HP:0031153 biolink:NamedThing Membranous vitreous appearance Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane. tmpxe7fu0cj_hp_relaxed.owl Membranous vitreous|Membranous vitreous phenotype|Membranous anomaly 2017-06-18 13:16:01+00:00 peter owl:Class HP:0010492 biolink:NamedThing Osseous finger syndactyly Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". tmpxe7fu0cj_hp_relaxed.owl Osseous syndactyly of the fingers SNOMEDCT_US:2560006|UMLS:C0158736 peter 2009-09-16T11:20:38Z owl:Class PATO:0002155 biolink:NamedThing medially rotated A rotation quality inhering in a bearer by virtue of being rotated towards the middle of an organism. tmpxe7fu0cj_hp_relaxed.owl internally rotated 2009-11-06T02:23:28Z quality owl:Class HP:0008393 biolink:NamedThing Congenital curved nail of fourth toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024684 human_phenotype owl:Class HP:0030158 biolink:NamedThing Cervical ectropion Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu tmpxe7fu0cj_hp_relaxed.owl Cervical ectopy|Cervical erosion MSH:D002579|UMLS:C0269189|UMLS:C0007869|SNOMEDCT_US:79342006|SNOMEDCT_US:61253004 The upper cervix (endocervix) is lined by a simple columnar epithelium that contains mucous-secreting cells. In contrast, the lower cervix (ectocervix) is lined by a stratified squamous epithelium. The transition point between these two epithelia is known as the external os. Cervical ectropion is the presence of columnar cells on the ectocervix, which is normally composed of a squamous epithelium. Potential causes of ectropion include adolescent age, pregnancy, and hormonal contraceptives.5 Some clinicians believe ectropion could be a normal asymptomatic variant, whereas others believe it to be correlated with chronic cervicitis.5 The presence of the metaplastic columnar epithelium can manifest a myriad of symptoms including increased vaginal discharge, leukorrhea, postcoital bleeding, pelvic pain, recurrent cervicitis, and dyspareunia. owl:Class HP:0005011 biolink:NamedThing Mesomelic arm shortening Shortening of the middle parts of the arm in relation to the upper and terminal segments. tmpxe7fu0cj_hp_relaxed.owl Mesomelia of the upper limbs|Upper limb brachymesomelia UMLS:C1862087 HP:0005024|HP:0006455 human_phenotype owl:Class GO:0005766 biolink:NamedThing primary lysosome A lysosome before it has fused with a vesicle or vacuole. tmpxe7fu0cj_hp_relaxed.owl NIF_Subcellular:sao1140587416 cellular_component owl:Class HP:0031350 biolink:NamedThing Cardiac sarcoma A malignant soft tissue neoplasm that arises from the heart. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 14:27:33+00:00 peter owl:Class HP:0025173 biolink:NamedThing Nodular septal thickening on pulmonary HRCT Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa. tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 19:30:08+00:00 HPO:probinson owl:Class CHEBI:59836 biolink:NamedThing oxo fatty acid anion A fatty acid anion carrying one or more oxo substituents tmpxe7fu0cj_hp_relaxed.owl oxo-FA anion|oxo fatty acid anions|oxo-FA anions chebi_ontology owl:Class HP:0040192 biolink:NamedThing APUdoma An endocrine tumor arising from an APUD cell. tmpxe7fu0cj_hp_relaxed.owl amine precursor uptake and decarboxylation tumours SNOMEDCT_US:253008000|UMLS:C0003650|SNOMEDCT_US:74926005|MSH:D001079 Courtney Hum owl:Class HP:0031060 biolink:NamedThing Impaired ability to dress oneself This applies to an individual who needs help with dressing or needs to be completely dressed. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 22:21:14+00:00 peter owl:Class HP:0031520 biolink:NamedThing Groin pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region. tmpxe7fu0cj_hp_relaxed.owl 2017-09-22 02:40:10+00:00 peter owl:Class HP:0031756 biolink:NamedThing Medial rectus muscle underaction Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:29:07+00:00 peter owl:Class HP:0032603 biolink:NamedThing Renal tubular epithelial cell simplification Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0009739 biolink:NamedThing Hypoplasia of the antihelix Developmental hypoplasia of the antihelix. tmpxe7fu0cj_hp_relaxed.owl Hypoplastic antihelix UMLS:C4021394 peter 2009-01-31T12:41:43Z human_phenotype owl:Class HP:0031706 biolink:NamedThing Compensatory chin depression A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement. tmpxe7fu0cj_hp_relaxed.owl 2017-12-18 00:26:27+00:00 peter owl:Class HP:0025471 biolink:NamedThing Congenital panfollicular nevus A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 11:57:54+00:00 HPO:probinson owl:Class HP:0033518 biolink:NamedThing Methylphenidate addiction Addiction to methylphenidate. tmpxe7fu0cj_hp_relaxed.owl Methylphenidate dependence 2021-01-13 12:33:58+00:00 Methylphenidate is used to treat attention deficit hyperactivity disorder. peter owl:Class HP:0031102 biolink:NamedThing Increased antimullerian hormone level An elevation above the normal range of the antimullerian hormone in the circulation. tmpxe7fu0cj_hp_relaxed.owl Increased plasma AMH 2017-05-30 02:37:15+00:00 peter owl:Class HP:0032085 biolink:NamedThing Aortic elastic fiber disorganization Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers. tmpxe7fu0cj_hp_relaxed.owl Aortic elastic fibre disorganisation 2018-10-14 14:58:51+00:00 This rarer process is distinct from fragmentation and loss as the fibers acquire a more haphazard, poorly organized appearance, with loss of the usual parallel/concentric arrangement of elastic fibers within the lamellar unit. This finding is noticeable when at high power, and the orientation of the lamellar units parallel to the aortic lumen is lost. The use of an elastic stain is essential to identify this lesion. Disorganization of elastic fibers can be seen in conjunction with smooth muscle cell disorganization. A poorly oriented aortic specimen may appear to have disorganization and should not be confused with the real entity. This rarer entity should be commented upon, when present as it represents a more severe feature of medial degeneration, but is not essential for routine surgical pathology reporting. peter owl:Class HP:4000044 biolink:NamedThing Transverse fracture A type of fracture in which the break is in a straight line across the bone. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 20:50:13+00:00 robinp owl:Class HP:0025382 biolink:NamedThing Hypodipsia Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake. tmpxe7fu0cj_hp_relaxed.owl 2017-04-20 11:10:08+00:00 HPO:probinson owl:Class HP:0002707 biolink:NamedThing Palate telangiectasia The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate. tmpxe7fu0cj_hp_relaxed.owl Palate telangiectases|Palatal telangiectasia|Palatal angioectasia|Palate teleangiectases|Palatal spider veins|Telangiectasia of the roof of the mouth|Spider veins of the roof of the mouth UMLS:C1857699|UMLS:C4280267 HP:0000229 human_phenotype owl:Class HP:0000523 biolink:NamedThing Subcapsular cataract A cataract that affects the region of the lens directly beneath the capsule of the lens. tmpxe7fu0cj_hp_relaxed.owl Subcapsular opacities|Subcapsular cataracts|Subcapsular lenticular cataracts UMLS:C0235259|SNOMEDCT_US:95723009 HP:0001490|HP:0007978 human_phenotype owl:Class HP:0031738 biolink:NamedThing Mechanical entropion A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 13:42:52+00:00 peter owl:Class HP:0033340 biolink:NamedThing Increased circulating guanosine concentration Increased concentration of guanosine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 19:06:04+00:00 peter owl:Class UBERON:0004932 biolink:NamedThing submucosa of sigmoid colon A submucosa that is part of a sigmoid colon [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl sigmoid colon submucosa FMA:15027 uberon owl:Class HP:0004611 biolink:NamedThing Anterior concavity of thoracic vertebrae tmpxe7fu0cj_hp_relaxed.owl Anteriorly concave vertebrae UMLS:C1839822 human_phenotype owl:Class HP:0033940 biolink:NamedThing Renal arteriole intima/media coagulative necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. tmpxe7fu0cj_hp_relaxed.owl 2021-06-24 01:45:29+00:00 peter owl:Class HP:0012799 biolink:NamedThing Unilateral facial palsy One-sided weakness of the muscles of facial expression and eye closure. tmpxe7fu0cj_hp_relaxed.owl Unilateral facial paralysis|Paralysis of one side of the face|Unilateral facial weakness|Weakness of one side of the face|Facial droop|Unilateral facial muscle weakness|Unilateral facial muscle paralysis UMLS:C4022719|UMLS:C0239516 hecht 2014-05-25T10:35:53Z owl:Class HP:0011242 biolink:NamedThing Underdeveloped stem of antihelix Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix. tmpxe7fu0cj_hp_relaxed.owl Antihelix, stem, underdeveloped UMLS:C4021192 The degree of prominence of the stem is highly variable and is attributable to the volume of the cartilage and/or the acuteness of the folding angle. Interpretation of degree of antihelical prominence may be difficult when the conchal anatomy is distorted, e.g., in cupped ear. peter 2011-12-18T11:38:15Z human_phenotype owl:Class HP:0004601 biolink:NamedThing Spina bifida occulta at L5 The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025308 human_phenotype owl:Class HP:0011194 biolink:NamedThing EEG with series of focal spikes Focal spikes occurring for several seconds. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023480 hecht 2011-11-19T10:51:41Z human_phenotype owl:Class HP:0032302 biolink:NamedThing Kappa Bence Jones proteinuria The presence of free monoclonal kappa immunoglobulin light chains in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 23:22:01+00:00 peter owl:Class CHEBI:23045 biolink:NamedThing carotenol tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0033472 biolink:NamedThing 10-minute APGAR score of 4 tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:45:44+00:00 peter owl:Class HP:0030273 biolink:NamedThing Reduced red cell adenosine deaminase level Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022544 owl:Class HP:0007420 biolink:NamedThing Spontaneous hematomas Spontaneous development of hematomas (hematoma) or bruises without significant trauma. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1697453 human_phenotype owl:Class HP:0003185 biolink:NamedThing Short greater sciatic notch The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. tmpxe7fu0cj_hp_relaxed.owl Small sacroiliac notch|Short sacroiliac notch|Shortened sacroiliac notches UMLS:C1866689 HP:0008815 human_phenotype owl:Class HP:0005148 biolink:NamedThing Pulmonary valve defects Any defect in the valve connecting the heart and the pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1860165 human_phenotype owl:Class HP:0025294 biolink:NamedThing Dermatomal Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution. tmpxe7fu0cj_hp_relaxed.owl Radicular 2016-12-18 16:17:51+00:00 This distribution can be seen with certain skin findings such as shingles. The term radicular is used to describe a dermatomal distribution of nerve root pain. HPO:probinson owl:Class NBO:0000259 biolink:NamedThing psychotic disorder HP:0000709 tmpxe7fu0cj_hp_relaxed.owl 2011-04-04T08:56:39Z George Gkoutos behavior_ontology owl:Class HP:0033675 biolink:NamedThing Frailty A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised. tmpxe7fu0cj_hp_relaxed.owl 2021-03-01 15:45:15+00:00 There is no objective test for frailty. An operational definition recognizes frailty in an individual who has three out of the following five criteria: (i) low grip strength; (ii) low energy; (iii) slowed waking speed; (iv) low physical activity; and (v) unintentional weight loss. peter owl:Class HP:0010801 biolink:NamedThing Underdeveloped nasolabial fold Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure). tmpxe7fu0cj_hp_relaxed.owl Nasolabial crease, underdeveloped|Shallow nasolabial fold|Nasolabial fold, hypoplastic|Flat nasolabial fold|Nasolabial crease, hypoplastic UMLS:C4021227 peter 2010-06-26T02:10:51Z human_phenotype owl:Class HP:0007271 biolink:NamedThing Occipital myelomeningocele tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024912 human_phenotype owl:Class HP:0011618 biolink:NamedThing Pulmonary situs ambiguus with bilateral morphologic right lungs An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023268 peter 2012-04-08T09:25:35Z human_phenotype owl:Class HP:0004844 biolink:NamedThing Coombs-positive hemolytic anemia A type of hemolytic anemia in which the Coombs test is positive. tmpxe7fu0cj_hp_relaxed.owl Direct Coombs positive|Coombs-positive hemolytic anaemia UMLS:C0520736|SNOMEDCT_US:74789008 The Coombs test measures a coating of immunoglobulin or complement on the red cell surface. HP:0003539 human_phenotype owl:Class HP:0011429 biolink:NamedThing Short fetal humerus length A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). tmpxe7fu0cj_hp_relaxed.owl Short fetal long bone in upper arm length|Short foetal long bone in upper arm length|Short foetal humerus length UMLS:C4023364 peter 2012-03-17T07:07:05Z owl:Class HP:0012142 biolink:NamedThing Pancreatic squamous cell carcinoma A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium. tmpxe7fu0cj_hp_relaxed.owl Squamous cell carcinoma of the pancreas UMLS:C2675993 peter 2012-09-16T08:55:24Z human_phenotype owl:Class HP:0034114 biolink:NamedThing Anti-hexokinase-1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1. tmpxe7fu0cj_hp_relaxed.owl Anti-HK-1 antibody positivity 2021-12-19 15:21:03+00:00 peter owl:Class HP:0008451 biolink:NamedThing Posterior vertebral hypoplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856780 human_phenotype owl:Class HP:0008954 biolink:NamedThing Intrinsic hand muscle atrophy Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1864716 human_phenotype owl:Class HP:0030045 biolink:NamedThing Serpentine fibula Elongated curved (S-shaped) fibulae. tmpxe7fu0cj_hp_relaxed.owl S-shaped calf bone UMLS:C3805325 owl:Class HP:0030776 biolink:NamedThing Modic type I vertebral endplate changes An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation. tmpxe7fu0cj_hp_relaxed.owl Modic type 1 vertebral endplate changes UMLS:C4280777 owl:Class HP:0005507 biolink:NamedThing Hemoglobin Barts Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues. tmpxe7fu0cj_hp_relaxed.owl Hb Barts|Haemoglobin Barts UMLS:C3539063 Hb Bart is normally not present in adult blood. It makes up about 85-90 percent of hemoglobin in Hb Bart hydrops fetalis syndrome, and about 2-5 percent in HbH disease. human_phenotype owl:Class UBERON:0004941 biolink:NamedThing submucosa of right hepatic duct A submucosa that is part of a right hepatic duct [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl right hepatic ductal submucosa|right hepatic duct submucosa FMA:18015 uberon owl:Class HP:0012857 biolink:NamedThing Increased scrotal rugation Increased number or density of the folded ridges (wrinkles) of skin of the scrotum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022706 hecht 2014-06-08T11:12:46Z human_phenotype owl:Class HP:0005176 biolink:NamedThing Dysplastic aortic valve A congenital malformation of the aortic valve characterized by leaflet deformation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866207 human_phenotype owl:Class HP:0030095 biolink:NamedThing Reduced muscle collagen VI A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle. tmpxe7fu0cj_hp_relaxed.owl Reduced collagen 6 in muscle UMLS:C4021054 owl:Class HP:0031268 biolink:NamedThing Decreased CD69 upregulation upon TCR activation Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR). tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 19:50:21+00:00 peter owl:Class HP:0031267 biolink:NamedThing Abnormal CD69 upregulation upon TCR activation Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 19:45:57+00:00 This feature can be measured by flow cytometry. peter owl:Class HP:0031788 biolink:NamedThing With the rule astigmatism Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest). tmpxe7fu0cj_hp_relaxed.owl 2018-01-28 13:33:42+00:00 peter owl:Class HP:0003565 biolink:NamedThing Elevated erythrocyte sedimentation rate An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. tmpxe7fu0cj_hp_relaxed.owl Increased erythrocyte sedimentation rate|High erythrocyte sedimentation rate|High ESR|Raised erythrocyte sedimentation rate|Elevated ESR|Elevated sedimentation rate UMLS:C0151632|SNOMEDCT_US:165468009 owl:Class HP:0034018 biolink:NamedThing Anti-class II HLA antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR). tmpxe7fu0cj_hp_relaxed.owl 2021-09-04 15:21:00+00:00 peter owl:Class HP:0034016 biolink:NamedThing Anti-HLA antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA). tmpxe7fu0cj_hp_relaxed.owl Anti-human leukocyte antigen antibody positivity 2021-09-04 15:08:39+00:00 The human major histocompatibility complex is a family of genes that encodes HLAs, which have a crucial role in defence against foreign pathogens and immune surveillance of tumors. HLA molecules are highly polymorphic antigens; antibodies against these antigens can develop as a result of pregnancy, transplantation or blood transfusion. peter owl:Class HP:0030792 biolink:NamedThing Jaw neoplasm A tumor originating in the jaw (mandible or maxilla). tmpxe7fu0cj_hp_relaxed.owl UMLS:C0022364|MSH:D007573|SNOMEDCT_US:126634001 owl:Class HP:0001340 biolink:NamedThing Enhancement of the C-reflex Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3552824 human_phenotype owl:Class HP:0032952 biolink:NamedThing Usual-type tubular atrophy A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis. tmpxe7fu0cj_hp_relaxed.owl Common-type renal tubular atrophy peter owl:Class HP:0410376 biolink:NamedThing Increased proportion of naive CD8 T cells An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Elevated proportion of naive thymus-derived CD8-positive, alpha-beta T cells|Elevated proportion of naive CD8 T cells owl:Class HP:0033117 biolink:NamedThing Duodenitis Inflammation of the lining of the upper small intestine (duodenum). tmpxe7fu0cj_hp_relaxed.owl 2020-09-03 12:01:20+00:00 The diagnosis of duodenitis is made when there is infiltration by inflammatory cells with changes in villous architecture and surface and crypt epithelium. Duodenitis can be graded according to the amount of neutrophilic and plasma cell infiltration, villous height, Brunner's gland hyperplasia with prolapse into the lamina propria and gastric metaplasia. peter owl:Class HP:0008263 biolink:NamedThing Thyroid defect in oxidation and organification of iodide tmpxe7fu0cj_hp_relaxed.owl UMLS:C1848800 human_phenotype owl:Class HP:0003456 biolink:NamedThing Low urinary cyclic AMP response to PTH administration tmpxe7fu0cj_hp_relaxed.owl UMLS:C1864105 human_phenotype owl:Class NBO:0000455 biolink:NamedThing attention behavior "The sustained focus of cognitive resources on information while filtering or ignoring extraneous information. Intended to encompass only attention to perceptual stimuli. " [wikipedia:Attention] tmpxe7fu0cj_hp_relaxed.owl 2011-04-08T01:02:16Z George Gkoutos behavior_ontology owl:Class CHEBI:47867 biolink:NamedThing indicator Anything used in a scientific experiment to indicate the presence of a substance or quality, change in a body, etc. tmpxe7fu0cj_hp_relaxed.owl Indikator chebi_ontology owl:Class HP:0011168 biolink:NamedThing Focal seizure with eyelid myoclonia Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures. tmpxe7fu0cj_hp_relaxed.owl Eyelid myoclonias UMLS:C4023500 peter 2011-10-18T02:39:07Z owl:Class HP:0006849 biolink:NamedThing Hypodysplasia of the corpus callosum Developmental defect characterized by a small and malformed corpus callosum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850348 owl:Class HP:0002079 biolink:NamedThing Hypoplasia of the corpus callosum Underdevelopment of the corpus callosum. tmpxe7fu0cj_hp_relaxed.owl Underdevelopment of part of brain called corpus callosum|Hypoplasia of corpus callosum|Hypoplastic corpus callosum|Corpus callosum hypoplasia UMLS:C0344482|SNOMEDCT_US:204043002 The corpus callosum appears thin in midline views of the brain in neuroradiological images. HP:0007026|HP:0002319 owl:Class HP:0011676 biolink:NamedThing Tetralogy of Fallot with absent subarterial conus tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023236 peter 2012-04-10T07:40:33Z human_phenotype owl:Class GO:0009259 biolink:NamedThing ribonucleotide metabolic process The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpxe7fu0cj_hp_relaxed.owl ribonucleotide metabolism GO:0009121 biological_process owl:Class HP:0012279 biolink:NamedThing Hyposerinemia Reduced concentration of serine in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood serine levels UMLS:C4022971 peter 2013-04-07T03:57:25Z human_phenotype owl:Class CHEBI:35488 biolink:NamedThing central nervous system depressant A loosely defined group of drugs that tend to reduce the activity of the central nervous system. tmpxe7fu0cj_hp_relaxed.owl CNS depressants|central nervous system depressants chebi_ontology owl:Class HP:0032328 biolink:NamedThing Temporomandibular joint adhesion Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ. tmpxe7fu0cj_hp_relaxed.owl 2019-02-18 11:34:44+00:00 See Figure 1 of PMID:19534789. peter owl:Class HP:0002193 biolink:NamedThing Pseudobulbar behavioral symptoms Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. tmpxe7fu0cj_hp_relaxed.owl Pseudobulbar behavioural symptoms UMLS:C4025720 human_phenotype owl:Class HP:0012551 biolink:NamedThing Absent neutrophil specific granules Lack of specific granules in neutrophils. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022852 Neutrophil polymorphonuclear leukocytes (PMNs) contain two principal types of granules. Azurophil granules appear early in neutrophil development and contain lysosomal enzymes, lysozyme, and myeloperoxidase (MPO). Specific granules are formed later, lack MPO and hydrolases, but contain lactoferrin and the remainder of the cell's complement of lysozyme. Consequently, specific granules may be conveniently detected at the electron-microscopic (EM) level by the cytochemical demonstration of their lack of MPO, while at the optical level their presence can be inferred from their positive immunocytochemical staining for lactoferrin with the use of specific antiserums. peter 2014-01-01T03:32:09Z human_phenotype owl:Class HP:0033157 biolink:NamedThing Elevated circulating 3-methylhistidine concentration Abnormal increase of the concentration of 3-methylhistidine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-09-20 12:20:55+00:00 The rate of myofibrillar protein breakdown may be estimated from the urinary excretion of 3-methylhistidine. This amino acid is formed by the methylation of peptide-bound histidine in actin and myosin, is excreted in the urine when these proteins are broken down, and is not reused for protein synthesis. peter owl:Class HP:0009614 biolink:NamedThing Bifid proximal phalanx of the thumb This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. tmpxe7fu0cj_hp_relaxed.owl Notched thumb bone UMLS:C4024272 doelkens 2009-01-29T04:01:27Z human_phenotype owl:Class HP:0003573 biolink:NamedThing Increased total bilirubin Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased bilirubin|High bili total SNOMEDCT_US:176271000119108|UMLS:C0741494 HP:0008168 human_phenotype owl:Class HP:0008981 biolink:NamedThing Calf muscle hypertrophy Muscle hypertrophy affecting the calf muscles. tmpxe7fu0cj_hp_relaxed.owl Increased size of calf muscles|Muscular hypertrophy of the calf muscles|Calf hypertrophy UMLS:C1843057 Distal lower limb hypertrophy HP:0009024|HP:0003703 human_phenotype owl:Class HP:0025569 biolink:NamedThing Polypoidal choroidal vasculopathy The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization. tmpxe7fu0cj_hp_relaxed.owl 2017-12-14 13:39:58+00:00 The presence of choroidal polyps and BVN can lead to recurrent episodes of exudative retinal detachment, serous or hemorrhagic pigment epithelial detachment (PED), subretinal hemorrhage, and subretinal exudation. HPO:probinson owl:Class HP:0005759 biolink:NamedThing Small flat posterior fossa An abnormally small and flat configuration of the posterior cranial fossa. tmpxe7fu0cj_hp_relaxed.owl Small and flat posterior skull bones|Small and flat posterior fossa of skull UMLS:C4025141 owl:Class HP:0040011 biolink:NamedThing Flat posterior fossa tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022495 HPO:skoehler owl:Class MAXO:0010202 biolink:NamedThing breast ultrasonography The use of ultrasound to produce images of structures in the breast. tmpxe7fu0cj_hp_relaxed.owl breast diagnostic sonography|sonography of breast|breast medical ultrasound|ultrasonography of breast|breast ultrasound examination|breast ultrasound imaging procedure|breast sonography|breast ultrasound procedure 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-2961 owl:Class HP:0005042 biolink:NamedThing Irregular, rachitic-like metaphyses tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866700 human_phenotype owl:Class HP:0006145 biolink:NamedThing Central Y-shaped metacarpal A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal. tmpxe7fu0cj_hp_relaxed.owl Y-shaped central long bones of hand UMLS:C1848597 human_phenotype owl:Class HP:0031683 biolink:NamedThing Type VI atherosclerotic lesion Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 17:45:52+00:00 Morbidity and mortality from atherosclerosis is largely due to type IV and type V lesions in which disruptions of the lesion surface, hematoma or hemorrhage, and thrombotic deposits have developed. Type IV or V lesions with one or more of these additional features are classified as type VI and may also be referred to as complicated lesions. Type VI may be subdivided by the superimposed features. Thus, disruption of the surface may be labeled type VIa; hematoma or hemorrhage, type VIb; and thrombosis, type VIc. Type VIabc indicates the presence of all three features. peter owl:Class HP:0002144 biolink:NamedThing Tethered cord During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. tmpxe7fu0cj_hp_relaxed.owl Occult spinal dysraphism SNOMEDCT_US:70534000|UMLS:C0080218|MSH:D009436 human_phenotype owl:Class HP:4000049 biolink:NamedThing Segmental fracture A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 20:52:50+00:00 robinp owl:Class HP:0034135 biolink:NamedThing Anti-neurofascin-155 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155. tmpxe7fu0cj_hp_relaxed.owl Anti-NF155 antibody positivity 2021-12-23 12:54:37+00:00 peter owl:Class HP:0034075 biolink:NamedThing Decreased circulating apolipoprotein B concentration Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100. tmpxe7fu0cj_hp_relaxed.owl 2021-12-18 14:54:34+00:00 peter owl:Class HP:0007000 biolink:NamedThing Morning myoclonic jerks tmpxe7fu0cj_hp_relaxed.owl UMLS:C1847164 human_phenotype owl:Class HP:0032582 biolink:NamedThing Renal interstitial foam cells Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. tmpxe7fu0cj_hp_relaxed.owl FCs are the outcome of cellular lipid accumulation due to lipid metabolic dysfunction. Normally, lipid is in a dynamic equilibrium outside and inside of the cell. When factors facilitate cell lipid intake or reduce its efflux, it subsequently resulted in cellular lipid accumulation and FC formation. Renal interstitial FCs are commonly encountered in Alport syndrome and are occasionally observed in various other kidney diseases, including idiopathic membranous nephropathy (IMN), IgA nephropathy (IgAN), focal and segmental glomerulosclerosis (FSGS), and membranoproliferative glomerulonephritis. peter owl:Class HP:0033830 biolink:NamedThing Hyperdense pulmonary mass A type of pulmonary mass with high attenuation. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:32:24+00:00 peter owl:Class UBERON:0006294 biolink:NamedThing stapes pre-cartilage condensation A stapes endochondral element that is composed primarily of a pre-cartilage condensation. tmpxe7fu0cj_hp_relaxed.owl stapedial anlage EMAPA:17827|EHDAA2:0001910|EHDAA:5699|VHOG:0000956 uberon owl:Class independent of the mesenchymal condensation that will form the otic capsule PATO:0002298 biolink:NamedThing increased cellular motility A cellular motility which is higher relative to the normal or average. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class CHEBI:38807 biolink:NamedThing calcium channel agonist Agents that increase calcium influx into calcium channels of excitable tissues. tmpxe7fu0cj_hp_relaxed.owl calcium channel agonists|calcium channel activators|calcium channel activator chebi_ontology owl:Class HP:0410247 biolink:NamedThing Increased anti-animal dander IgE antibody level Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats. tmpxe7fu0cj_hp_relaxed.owl Increased level of anti-dander IgE antibody 2018-10-12 20:49:45+00:00 owl:Class HP:0500063 biolink:NamedThing Retinopathy of prematurity pre-plus As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal. tmpxe7fu0cj_hp_relaxed.owl ROP pre-plus 2018-02-19 20:18:12+00:00 Over time, the vessel abnormalities of pre-plus may progress to frank plus disease as the vessels dilate and become more tortuous. ORCID:0000-0001-7941-2961 owl:Class GO:0045659 biolink:NamedThing negative regulation of neutrophil differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of neutrophil differentiation. tmpxe7fu0cj_hp_relaxed.owl downregulation of neutrophil differentiation|down-regulation of neutrophil differentiation|inhibition of neutrophil differentiation|down regulation of neutrophil differentiation biological_process owl:Class HP:0012225 biolink:NamedThing Oligodontia of primary teeth Reduced number of primary teeth. tmpxe7fu0cj_hp_relaxed.owl Failure of development of some primary teeth|Decreased number of milk teeth|Partial anodontia of deciduous teeth|Missing some primary teeth|Partial anodontia of primary teeth|Missing some baby teeth|Failure of development of some deciduous teeth|Decreased number of deciduous teeth|Fewer baby teeth than normal|Decreased number of baby teeth|Missing some milk teeth|Fewer deciduous teeth than normal|Fewer primary teeth than normal|Decreased number of primary teeth UMLS:C4280316|UMLS:C4022997 Primary teeth are also called temporary teeth or deciduous teeth. peter 2013-03-30T07:31:16Z human_phenotype owl:Class HP:0031496 biolink:NamedThing Mucinous cystic neoplasm of the pancreas Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma. tmpxe7fu0cj_hp_relaxed.owl 2017-09-18 00:49:14+00:00 peter owl:Class HP:0001531 biolink:NamedThing Failure to thrive in infancy tmpxe7fu0cj_hp_relaxed.owl Failure to thrive in first year of life|Faltering weight in infancy|Weight faltering in infancy UMLS:C1867873 HP:0008925|HP:0008863 human_phenotype owl:Class HP:0031861 biolink:NamedThing Decreased heart rate variability Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. tmpxe7fu0cj_hp_relaxed.owl Reduced heart rate variability 2018-05-05 21:03:46+00:00 peter owl:Class HP:0033183 biolink:NamedThing Bilobed right lung A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung. tmpxe7fu0cj_hp_relaxed.owl 2020-10-04 11:44:07+00:00 The normal anatomy of the right lung comprises three lobes: the upper, middle, and lower lobes, and that of the left lung consists of two lobes: the upper and lower lobes. peter owl:Class HP:0007183 biolink:NamedThing Focal T2 hyperintense basal ganglia lesion A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia. tmpxe7fu0cj_hp_relaxed.owl Hyperintense lesions in the basal ganglia on MRI UMLS:C4024926|UMLS:C1865351 human_phenotype owl:Class HP:0045053 biolink:NamedThing Abnormality of the lumbosacral nerve plexus Any abnormality of the lumbosacral nerve plexus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073177 HPO:skoehler owl:Class HP:0012545 biolink:NamedThing Reduced aldolase level An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022857 Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. peter 2013-12-21T09:20:49Z human_phenotype owl:Class HP:0025221 biolink:NamedThing Triggered by pregnancy Applies to a sign or symptom that is provoked or brought about by pregnancy in a female. tmpxe7fu0cj_hp_relaxed.owl Pregnancy triggered symptoms|Triggered by pregnancy 2016-12-10 14:06:54+00:00 HPO:probinson owl:Class HP:0031631 biolink:NamedThing Subpleural honeycombing So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 00:47:40+00:00 Pathologically, honeycombing represents destroyed and fibrotic lung tissue that contains numerous cystic airspaces with thick fibrous walls. peter owl:Class HP:0034155 biolink:NamedThing Anti-sp100 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 14:19:08+00:00 peter owl:Class HP:0003409 biolink:NamedThing Distal sensory impairment of all modalities Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities. tmpxe7fu0cj_hp_relaxed.owl Distal sensory loss to all modalities UMLS:C1836527 HP:0006984 owl:Class HP:0032335 biolink:NamedThing Monoclonal elevation of circulating IgA An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. tmpxe7fu0cj_hp_relaxed.owl 2019-02-18 14:10:39+00:00 peter owl:Class HP:0012039 biolink:NamedThing Descemet Membrane Folds Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:193821003|UMLS:C0155116 peter 2012-07-27T02:14:55Z human_phenotype owl:Class HP:0030728 biolink:NamedThing Meromelia Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0265549|SNOMEDCT_US:60220000 owl:Class HP:0011351 biolink:NamedThing Moderate receptive language delay A moderate delay in the acquisition of the ability to understand the speech of others. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3532946|SNOMEDCT_US:89381000119107 peter 2012-03-01T10:53:13Z owl:Class HP:0008607 biolink:NamedThing Progressive conductive hearing impairment A progressive type of conductive deafness. tmpxe7fu0cj_hp_relaxed.owl Progressive conductive deafness UMLS:C1861325 human_phenotype owl:Class HP:0010617 biolink:NamedThing Cardiac fibroma A fibroma of the heart. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3041|UMLS:C1096654 sandra1 2009-10-28T06:13:11Z owl:Class HP:0009110 biolink:NamedThing Diaphragmatic eventration A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development. tmpxe7fu0cj_hp_relaxed.owl Eventration of the diaphragm SNOMEDCT_US:34168003|MSH:D003965|UMLS:C0011981 peter 2008-04-05T10:42:00Z HP:0009114 human_phenotype owl:Class HP:0032330 biolink:NamedThing Increased urinary 11-deoxycorticosterone level An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-02-18 13:52:04+00:00 Increased urinary 11-deoxycorticosterone is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency. peter owl:Class HP:0034156 biolink:NamedThing Anti-beta-2-Glycoprotein I IgG antibody positivity Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome. tmpxe7fu0cj_hp_relaxed.owl Anti-beta2GPI IgG antibody positivity 2021-12-23 14:24:25+00:00 peter owl:Class GO:0090139 biolink:NamedThing mitochondrial DNA packaging Any process in which mitochondrial DNA and associated proteins are formed into a compact, orderly structure. tmpxe7fu0cj_hp_relaxed.owl tb 2009-12-08T02:12:19Z biological_process owl:Class HP:0009717 biolink:NamedThing Cortical tubers Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968959 peter 2009-01-31T12:03:16Z owl:Class HP:0001814 biolink:NamedThing Deep-set nails Deeply placed nails. tmpxe7fu0cj_hp_relaxed.owl Deep-set nails UMLS:C3277753 human_phenotype owl:Class HP:0500040 biolink:NamedThing Dermolipoma of the conjunctiva A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix. tmpxe7fu0cj_hp_relaxed.owl Conjunctival lipodermoid 2018-02-02 15:28:59+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0500039 biolink:NamedThing Conjunctival cicatrization An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring. tmpxe7fu0cj_hp_relaxed.owl Cicatricial conjunctivitis|Conjunctival cicatricial conjunctivitis|Cicatrizating conjunctivitis 2018-02-02 14:47:58+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0006994 biolink:NamedThing Diffuse leukoencephalopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C1868514 human_phenotype owl:Class HP:0033322 biolink:NamedThing Glomerular capillary wall duplication without cellular interposition Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 13:59:59+00:00 peter owl:Class HP:0006335 biolink:NamedThing Persistence of primary teeth Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. tmpxe7fu0cj_hp_relaxed.owl Retained baby teeth|Persistent primary dentition|Delayed loss of baby teeth|Deciduous teeth retention|Persistent primary teeth|Failure to lose baby teeth|Retained deciduous teeth|Persistence of deciduous teeth|Failure to exfoliate deciduous teeth|Delayed loss of primary teeth|Retained primary teeth|Persistent deciduous dentition|Delayed loss of deciduous teeth|Failure to exfoliate primary teeth SNOMEDCT_US:57650002|UMLS:C0266050 The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. Persistence of primary teeth may be related to agenesis of the permanent teeth. Molar primary teeth may be persistent because of the agenesis of the premolars. HP:0006299|HP:0006341|HP:0003772|HP:0006305|HP:0006354 owl:Class HP:0011520 biolink:NamedThing Deuteranomaly A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green. tmpxe7fu0cj_hp_relaxed.owl Green-weak|Deuteranomoly UMLS:C0155016|SNOMEDCT_US:246674000|MSH:D003117|SNOMEDCT_US:77479002 Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green. peter 2012-04-06T07:14:19Z human_phenotype owl:Class HP:0032197 biolink:NamedThing Deep S wave in lead V5 Abnormal depth of the S wave in lead V5 of the electrocardiogram. tmpxe7fu0cj_hp_relaxed.owl 2019-01-19 13:39:21+00:00 The S wave refers to the negative deflection after an R wave within the QRS complex. This term refers to an abnormally deep (negative) deflection of the S wave in lead V5. peter owl:Class HP:0500221 biolink:NamedThing Decreased CSF tyrosine concentration Abnormally decreased levels of tyrosine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Low tyrosine levels in the cerebrospinal fluid 2019-02-25 19:53:22+00:00 owl:Class HP:0003510 biolink:NamedThing Severe short stature A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. tmpxe7fu0cj_hp_relaxed.owl Short stature, extreme|Dwarfism|Proportionate dwarfism|Severe short stature|Short stature, severe SNOMEDCT_US:237837007|SNOMEDCT_US:237836003|MSH:D004392|SNOMEDCT_US:422065006|UMLS:C0013336 The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm). HP:0008930|HP:0008884|HP:0008907|HP:0008920|HP:0008867|HP:0001516|HP:0001424|HP:0003504 human_phenotype owl:Class HP:5000043 biolink:NamedThing Anti-D2 R antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor. tmpxe7fu0cj_hp_relaxed.owl Anti-dopamine-2 receptors (D2R) antibody ORCID:0000-0002-3387-1836 owl:Class HP:0033445 biolink:NamedThing Reduced circulating acylcarnitine concentration An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 18:53:21+00:00 peter owl:Class HP:0025725 biolink:NamedThing Type 1 congenital pulmonary airway malformation A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0500087 biolink:NamedThing Peripapillary atrophy Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. tmpxe7fu0cj_hp_relaxed.owl 2018-03-20 20:01:02+00:00 owl:Class HP:0011259 biolink:NamedThing Expanded terminal portion of crus of helix Widening, rather than tapering, of the crus at its posterior border near the antihelix. tmpxe7fu0cj_hp_relaxed.owl Helix, crus, expanded terminal portion UMLS:C4021181 peter 2011-12-18T06:00:07Z human_phenotype owl:Class PATO:0002087 biolink:NamedThing bullet-shaped A quality inhering in a bearer by virtue of the bearer's being short and wide and tapered distally. tmpxe7fu0cj_hp_relaxed.owl 2009-09-30T09:53:43Z quality owl:Class HP:0012904 biolink:NamedThing Cold-sensitive myotonia An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022682 peter 2014-06-23T11:20:32Z human_phenotype owl:Class HP:0011974 biolink:NamedThing Myelofibrosis Replacement of bone marrow by fibrous tissue. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:52967002|UMLS:C0026987 peter 2012-07-18T08:51:57Z human_phenotype owl:Class HP:0006252 biolink:NamedThing Interphalangeal joint erosions tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850158 human_phenotype owl:Class GO:0042359 biolink:NamedThing vitamin D metabolic process The chemical reactions and pathways involving vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpxe7fu0cj_hp_relaxed.owl cholecalciferol metabolism|ergocalciferol metabolism|cholecalciferol metabolic process|calciferol metabolic process|ergocalciferol metabolic process|calciferol metabolism|vitamin D metabolism biological_process owl:Class GO:0016101 biolink:NamedThing diterpenoid metabolic process The chemical reactions and pathways involving diterpenoid compounds, terpenoids with four isoprene units. tmpxe7fu0cj_hp_relaxed.owl diterpene metabolic process|diterpenoid metabolism|diterpene metabolism biological_process owl:Class HP:0100418 biolink:NamedThing Partial duplication of the distal phalanx of the 5th toe Partial duplication of the distal phalanx of little toe. tmpxe7fu0cj_hp_relaxed.owl Partial duplication of the outermost bone of the little toe|Partial duplication of the outermost bone of the pinky toe|Partial duplication of the outermost bone of the pinkie toe|Partial duplication of the distal phalanx of the fifth toe|Partial duplication of the outermost bone of the fifth toe UMLS:C4020981 human_phenotype owl:Class HP:0032745 biolink:NamedThing Focal aware emotional seizure with laughing Focal emotional seizure with laughing in which awareness is retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0003929 biolink:NamedThing Ground glass opacity of humeral diaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025499 human_phenotype owl:Class HP:0010470 biolink:NamedThing Supernumerary testes The presence of more than two testes. tmpxe7fu0cj_hp_relaxed.owl Polyorchidism|Extra testes UMLS:C0266430|SNOMEDCT_US:17471001 peter 2009-09-15T09:34:18Z human_phenotype owl:Class HP:0007451 biolink:NamedThing Ipsilateral lack of facial sweating tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024874 human_phenotype owl:Class HP:0031759 biolink:NamedThing Basic constant esotropia A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times). tmpxe7fu0cj_hp_relaxed.owl Basic (constant) esotropia 2018-01-21 14:43:58+00:00 peter owl:Class HP:0032305 biolink:NamedThing Decreased mannose-binding protein level An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 23:29:35+00:00 peter owl:Class HP:0031563 biolink:NamedThing Coronary arteriovenous fistula An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation. tmpxe7fu0cj_hp_relaxed.owl 2017-09-29 12:05:45+00:00 Fyler:2240 peter owl:Class HP:0006785 biolink:NamedThing Limb-girdle muscular dystrophy Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders). tmpxe7fu0cj_hp_relaxed.owl limb girdle muscular dystrophy SNOMEDCT_US:93153005|MSH:D049288|UMLS:C0686353 HP:0009066 human_phenotype owl:Class HP:0025007 biolink:NamedThing Ectopic fovea An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina. tmpxe7fu0cj_hp_relaxed.owl Ectopic macula 2016-08-06 23:07:53+00:00 HPO:probinson owl:Class HP:0008160 biolink:NamedThing 3-hydroxydicarboxylic aciduria An increase in the level of 3-hydroxydicarboxylic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024725 owl:Class HP:0007939 biolink:NamedThing Blue cone monochromacy A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. tmpxe7fu0cj_hp_relaxed.owl Blue cone monochromatism|Incomplete achromatopsia|S-cone monochromacy SNOMEDCT_US:24704003|MSH:C536238|UMLS:C0339537 human_phenotype owl:Class HP:0001348 biolink:NamedThing Brisk reflexes Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. tmpxe7fu0cj_hp_relaxed.owl Brisk deep tendon reflexes UMLS:C2673700 human_phenotype owl:Class HP:0100618 biolink:NamedThing Leydig cell neoplasia The presence of a neoplasm of the testis with origin in a Leydig cell. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3188|UMLS:C4022011 doelkens 2010-12-28T11:42:18Z human_phenotype owl:Class HP:0031071 biolink:NamedThing Abnormal endocrine morphology Any anomaly of the structure of an organ ofthe endocrine system. tmpxe7fu0cj_hp_relaxed.owl 2017-05-28 23:11:43+00:00 peter owl:Class HP:0012476 biolink:NamedThing Decreased specific pneumococcal antibody level The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci. tmpxe7fu0cj_hp_relaxed.owl Specific pneumococcal antibody deficiency|Low pneumococcal antibody titer UMLS:C4022890 peter 2013-11-27T10:28:04Z owl:Class HP:0033987 biolink:NamedThing Phosphaturic mesenchymal tumor A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites. tmpxe7fu0cj_hp_relaxed.owl 2021-07-15 12:04:04+00:00 peter owl:Class HP:0025178 biolink:NamedThing Subpleural interstitial thickening Increase in thickness of the subpleural interstitium. tmpxe7fu0cj_hp_relaxed.owl Subpleural scarring 2016-12-04 19:44:43+00:00 Subpleural interstitial thickening can be difficult to recognize where the lung contacts the chest wall or mediastinum but is easy to delineate adjacent to the major fissure. Thickening of the fissure visible on high-resolution computer tomography may represent subpleural interstitial thickening. HPO:probinson owl:Class HP:0003947 biolink:NamedThing Delayed elbow epiphyseal ossification A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow. tmpxe7fu0cj_hp_relaxed.owl Delayed maturation of the end part of the elbow bone UMLS:C4025487 human_phenotype owl:Class UBERON:0004184 biolink:NamedThing prostate gland stroma The prostate gland stroma is made up of the mesenchymal or fibroblast cells of the prostate gland. tmpxe7fu0cj_hp_relaxed.owl stroma of glandular part of prostate|prostate stroma|stroma of prostate gland|stroma of prostate|prostatic stroma MA:0002912|FMA:45719|UMLS:C1521760|EMAPA:35714|NCIT:C13104 TODO - check also FMA Stroma of glandular part of prostate UBERON:0005084 uberon owl:Class GO:0021846 biolink:NamedThing cell proliferation in forebrain The creation of greater cell numbers in the forebrain due to cell division of progenitor cells. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:4000019 biolink:NamedThing Anti-BP230 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against BP230. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 14:28:23+00:00 Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen. robinp owl:Class HP:0030998 biolink:NamedThing Cerebrospinal fluid rhinorrhoea Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose. tmpxe7fu0cj_hp_relaxed.owl CSF rhinorrhoea 2017-05-13 18:30:18+00:00 CSF rhinorrhea or liquorrhoea commonly occurs following head trauma (fronto-basal skull fractures), as a result of intracranial surgery, or destruction lesions. A spinal fluid leak from the intracranial space to the nasal respiratory tract is potentially very serious because of the risk of an ascending infection which could produce fulminant meningitis. peter owl:Class HP:0030514 biolink:NamedThing Difficulty adjusting from dark to light tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072996 owl:Class GO:0002399 biolink:NamedThing MHC class II protein complex assembly The aggregation, arrangement and bonding together of a set of components to form an MHC class II protein complex. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0000664 biolink:NamedThing Synophrys Meeting of the medial eyebrows in the midline. tmpxe7fu0cj_hp_relaxed.owl Unibrow|Monobrow|Synophris UMLS:C0431447|SNOMEDCT_US:253207002 HP:0002210 human_phenotype owl:Class HP:0004727 biolink:NamedThing Impaired renal concentrating ability A defect in the ability to concentrate the urine. tmpxe7fu0cj_hp_relaxed.owl Urine concentration defect|Urine concentrating defect UMLS:C1859819 An impairment in renal concentrating ability can be easily recognized by the maximum concentrating ability (Umax) as determined by the urine osmolality reached after a fixed period of dehydration. Inability to maximally concentrate the urine is related to one or both of two basic tubular defects: 1) a failure of maximal free-water generation by the diluting segment in the ascending limb of Henle's loop; and 2) a failure of the distal tubular epithelium to achieve maximum permeability to water during water deprivation. HP:0005568 human_phenotype owl:Class HP:0500210 biolink:NamedThing Increased CSF methionine concentration Abnormally increased levels of methionine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High methionine levels in cerebrospinal fluid 2019-02-25 18:58:44+00:00 owl:Class HP:0000895 biolink:NamedThing Lateral clavicle hook An excessive upward convexity of the lateral clavicle. tmpxe7fu0cj_hp_relaxed.owl Hook-shaped clavicle|Hooked clavicle|Hook-shaped collarbone|Handlebar clavicle SNOMEDCT_US:249684000|UMLS:C0426805 owl:Class HP:0032665 biolink:NamedThing Repeated focal motor seizures A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus. tmpxe7fu0cj_hp_relaxed.owl Jacksonian status epilepticus peter owl:Class HP:0025561 biolink:NamedThing Anterior chamber cells grade 1+ Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. tmpxe7fu0cj_hp_relaxed.owl 2017-12-14 13:15:06+00:00 HPO:probinson owl:Class HP:0033807 biolink:NamedThing Absent keratohyalin granules Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin. tmpxe7fu0cj_hp_relaxed.owl 2021-05-08 15:15:46+00:00 Keratohyalin granules typically contain a mixture of keratin filament bundles, as well as the filament-associated proteins loricrin, filaggrin, and trichohyalin. These granules are insoluble in water and located within the cytoplasm where they promote dehydration of the cell. Their chief function seems to be cross-linking of keratin filaments which creates the tight barrier that is the epidermis, providing the body with an impermeable layer that protects from invasion by foreign particles. This process of cornification of the epidermis effected by KHG is known as keratinization. peter owl:Class HP:0031476 biolink:NamedThing Abnormal buccal mucosa cell morphology Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells). tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 22:04:47+00:00 Buccal mucosa cells are easy to obtain and are a useful model of some other diseases. For instance, muccal mucosa cells from arrhythmogenic cardiomyopathy patients exhibit changes in the distribution of cell junction proteins similar to those seen in the heart. peter owl:Class HP:0006415 biolink:NamedThing Cortically dense long tubular bones Increased density of the compact bone of long bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849276 Note that compact bone and cortical bone are synonymous. human_phenotype owl:Class HP:0033002 biolink:NamedThing Bronchial papilloma A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0100455 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022072 human_phenotype owl:Class PR:P17433 biolink:NamedThing transcription factor PU.1 (mouse) A transcription factor PU.1 that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl mSPI1|Spi1|Sfpi-1|SFFV proviral integration 1 protein (mouse)|Sfpi1|31 kDa-transforming protein (mouse) UniProtKB:P17433 Category=organism-gene. protein owl:Class CHEBI:18287 biolink:NamedThing L-fucose Any form of fucose having L configuration. tmpxe7fu0cj_hp_relaxed.owl L-(-)-fucose|(-)-fucose|L-fucose|(-)-L-fucose|L-galactomethylose|L-Fuc|6-deoxy-L-galactose 0 C6H12O5 164.15648 164.06847 PMID:20877283|CAS:2438-80-4 CHEBI:21293|CHEBI:13102 chebi_ontology owl:Class HP:0032237 biolink:NamedThing Increased circulating myelocyte count An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1. tmpxe7fu0cj_hp_relaxed.owl 2019-01-26 17:25:19+00:00 peter owl:Class CHEBI:59202 biolink:NamedThing straight-chain fatty acid Any fatty acid whose skeletal carbon atoms form an unbranched open chain. tmpxe7fu0cj_hp_relaxed.owl straight-chain fatty acids chebi_ontology owl:Class HP:0006859 biolink:NamedThing Posterior leukoencephalopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024975 human_phenotype owl:Class HP:0008486 biolink:NamedThing Lumbar interpedicular narrowing Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. tmpxe7fu0cj_hp_relaxed.owl Decreasing lumbar vertebrae interpediculate distance UMLS:C1849079 human_phenotype owl:Class HP:0100496 biolink:NamedThing Abnormality of the vitamin B3 metabolism tmpxe7fu0cj_hp_relaxed.owl Abnormality of the vitamin B3 metabolism UMLS:C4022040 Vitamin B3 is also known as nicotinic acid, vitamin PP or Niacin and is one of the forty to eighty essential human nutrients. doelkens 2010-12-17T04:13:00Z human_phenotype owl:Class HP:0012096 biolink:NamedThing Intracranial epidermoid cyst A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023045 See Figure 8 in PMID:16714456. Epidermoid cysts arise from ectodermal inclusion during neural tube closure in the 3rd-5th week of embryogenesis. The microscopic cyst lining consists of stratified squamous epithelium supported by an outer layer of collagenous connective tissue. Cystic contents usually include debris, keratin, water, and cholesterol laid down in a lamellar fashion. Epidermoid cysts do not contain dermal appendages. peter 2012-08-20T09:21:24Z human_phenotype owl:Class MAXO:0010312 biolink:NamedThing head CT The use of computed tomography to produce images of structures of the head. tmpxe7fu0cj_hp_relaxed.owl CT of head|CAT scan of head|head computerized axial tomography|head CT examination|head CAT scan|head computed tomography 2020-03-31T20:39:14Z http://orcid.org/0000-0001-7941-2961 owl:Class HP:0025256 biolink:NamedThing Ameliorated by heat Applies to a sign or symptom that is improved or made more bearable by heat (including fever). tmpxe7fu0cj_hp_relaxed.owl Heat improves symptom|Fever improves condition|Heat improves condition 2016-12-17 14:20:45+00:00 HPO:probinson owl:Class HP:0011524 biolink:NamedThing Iris melanoma Malignant tumor of melanocytes affecting the iris. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3224|SNOMEDCT_US:255012009|UMLS:C0346373 peter 2012-04-06T09:06:41Z human_phenotype owl:Class HP:5000010 biolink:NamedThing Anti-GABA(B)R antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R. tmpxe7fu0cj_hp_relaxed.owl Anti-gamma-aminobutyric acid B receptor antibody ORCID:0000-0002-3387-1836 owl:Class HP:0005312 biolink:NamedThing Pulmonary aterial intimal fibrosis Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025217 Some causes of intimal fibrosis are hypertension, intimal fibroplasia, arterial atheroma, and CADASIL syndrome. human_phenotype owl:Class HP:0031744 biolink:NamedThing Superior rectus muscle weakness Decreased strength of the superior rectus muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:10:55+00:00 peter owl:Class GO:0015925 biolink:NamedThing galactosidase activity Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class HP:0025722 biolink:NamedThing Cerebral infarct A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class UBERON:0013698 biolink:NamedThing strand of pubic hair A hair in the frontal genital area of adolescent and adult humans, located on and around the sex organs, the crotch, and sometimes at the top of the inside of the thighs, in the pubic region around the pubis bone. tmpxe7fu0cj_hp_relaxed.owl pubic hair UMLS:C1305636|NCIT:C33424|FMA:54319 uberon owl:Class NBO:0000270 biolink:NamedThing feeding behavior phenotype "Observable characteristic of behavior associated with the intake of food or liquids." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-04-04T09:02:16Z George Gkoutos behavior_ontology owl:Class HP:0012288 biolink:NamedThing Neoplasm of head and neck A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx. tmpxe7fu0cj_hp_relaxed.owl Head and neck tumour|Head and neck cancer|Head and neck tumor UMLS:C0018671|UMLS:C0278996|SNOMEDCT_US:255056009|SNOMEDCT_US:255055008|MSH:D006258 peter 2013-04-11T05:44:24Z owl:Class PATO:0001046 biolink:NamedThing resistance to A quality inhering in a bearer by virtue of the bearer's disposition to resist to a stimulus. tmpxe7fu0cj_hp_relaxed.owl resistance quality owl:Class HP:0033982 biolink:NamedThing Celiac artery dissection A separation (dissection) of the layers of the celiac artery wall. tmpxe7fu0cj_hp_relaxed.owl 2021-07-15 11:41:29+00:00 peter owl:Class HP:0012811 biolink:NamedThing Wide nasal ridge Increased width of the nasal ridge. tmpxe7fu0cj_hp_relaxed.owl Broad nasal dorsum|Nasal ridge, wide|Wide nasal ridge|Broad dorsum of nose|Wide nasal dorsum|Increased width of dorsum of nose|Increased width of nasal dorsum|Increased width of nasal ridge|Wide dorsum of nose|Broad nasal ridge UMLS:C4020718 This feature should be assessed in a frontal view. There is no objective measure of width. This may give the impression of a Depressed nasal ridge, but this should be assessed in profile and separately coded. Marked widening of the nasal ridge may be difficult to distinguish from a Bifid nose. hecht 2014-05-25T10:38:03Z human_phenotype owl:Class HP:0033293 biolink:NamedThing Glomerular hyaline pseudothrombus Intracapillary amorphous, eosinophilic material consisting of immune deposits. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 21:29:20+00:00 peter owl:Class HP:0007858 biolink:NamedThing Chorioretinal lacunae Punched out lesions in the pigmented layer of the retina. tmpxe7fu0cj_hp_relaxed.owl Lacunar retinal depigmentation UMLS:C1844751|UMLS:C4072866 A chorioretinal lacuna can have the appearance of a pseudodisk in the retina. HP:0007786 owl:Class HP:0032957 biolink:NamedThing Dysmorphic hematuria The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. tmpxe7fu0cj_hp_relaxed.owl Acanthocyturia peter owl:Class HP:0000191 biolink:NamedThing Accessory oral frenulum Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. tmpxe7fu0cj_hp_relaxed.owl Extra oral frenulum|Multiple oral frenula|Supernumerary oral frenum|Supernumerary oral frenulum|Accessory oral frenum|Extra oral frenum UMLS:C4021814 This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately. human_phenotype owl:Class HP:0006555 biolink:NamedThing Diffuse hepatic steatosis A diffuse form of hepatic steatosis. tmpxe7fu0cj_hp_relaxed.owl Hepatic steatosis, diffuse UMLS:C1849686 human_phenotype owl:Class PATO:0040048 biolink:NamedThing erythematous Red due to increase blood circulation in a defined area. tmpxe7fu0cj_hp_relaxed.owl erythema|skin redness quality owl:Class HP:0032580 biolink:NamedThing Abnormal bulbus cordis morphology Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis. tmpxe7fu0cj_hp_relaxed.owl The portion of the embryonic heart that receives blood is called the sinus venosus. There are two horns, the left and the right, that pump blood into the primordial atrium, which is then pumped into the ventricle and the bulbus cordis. From the bulbus cordis, it goes into the aortic sac which is connected to the first aortic arch. peter owl:Class HP:0032266 biolink:NamedThing CSF anti-NMDA receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. tmpxe7fu0cj_hp_relaxed.owl Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF|Presence of NMDAR antibody in CSF|Presence of anti-NMDAR antibody in cerebrospinal fluid 2019-01-27 20:14:16+00:00 peter owl:Class HP:0032265 biolink:NamedThing CSF autoimmune antibody positivity The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues. tmpxe7fu0cj_hp_relaxed.owl Cerebrospinal fluid autoimmune antibody positivity 2019-01-27 20:13:27+00:00 peter owl:Class HP:0032796 biolink:NamedThing Focal impaired awareness cognitive seizure with left-right confusion A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033531 biolink:NamedThing Decreased cardiac index A reduced cardiac index, defined as cardiac output divided by body surface area. tmpxe7fu0cj_hp_relaxed.owl 2021-01-15 12:55:00+00:00 peter owl:Class HP:0032291 biolink:NamedThing Monoclonal elevation of intact IgG A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 22:39:49+00:00 peter owl:Class HP:0012790 biolink:NamedThing Abnormal intramembranous ossification An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed. tmpxe7fu0cj_hp_relaxed.owl Abnormal intramembranous bone ossification UMLS:C4021069 peter 2014-04-24T10:18:31Z human_phenotype owl:Class HP:0030959 biolink:NamedThing Muscular ventricular septal aneurysm Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). tmpxe7fu0cj_hp_relaxed.owl Aneurysm of the muscular ventricular septum 2017-03-17 20:22:16+00:00 Aneurysm of the muscular interventricular septum is a rare entity compared to aneurysms of the membranous part. The majority of cases are due to a previous history of myocardial infarction or VSD closure. Muscular interventricular septal aneurysm can arise from the basal, mid or apical part. robinp owl:Class HP:0430016 biolink:NamedThing Abnormality of tensor veli palatini muscle An abnormality of the tensor veli palatini muscle tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073198 owl:Class HP:0031998 biolink:NamedThing Late inspiratory crackles Crackles that appear any time after the beginning of inspiration and last till the end of inspiration. tmpxe7fu0cj_hp_relaxed.owl 2018-07-15 21:49:08+00:00 Late inspiratory crackles may be observed, for example, in diffuse parenchymal lung disease (DPLD). Crackles are commonly seen in patients with IPF/usual interstitial pneumonia (UIP), asbestosis, and desquamative interstitial pneumonia (DIP). peter owl:Class HP:0033251 biolink:NamedThing Elevated residual volume Increase in the amount of air remaining in a person's lungs after full exhalation. tmpxe7fu0cj_hp_relaxed.owl Elevated RV 2020-11-25 14:24:29+00:00 peter owl:Class HP:0032221 biolink:NamedThing Periportal emperipolesis The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area. tmpxe7fu0cj_hp_relaxed.owl 2019-01-21 01:20:50+00:00 Emperipolesis is derived from the Greek (em-inside; peri-around; polemai-wander about) and is as the active penetration of one cell by another which remains intact. It differs from phagocytosis in that an engulfed cell exists temporarily within another cell and with an intact normal structure while in phagocytosis, the engulfed cell is destroyed by the protective action of lysosomal enzymes. peter owl:Class HP:0007973 biolink:NamedThing Retinal dysplasia The presence of developmental dysplasia of the retina. tmpxe7fu0cj_hp_relaxed.owl Retinal dysgenesis SNOMEDCT_US:95494009|MSH:D015792|UMLS:C0035313 This feature is a congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina contains numerous tubular structures and rosettes. Retinal dysplasia (synonym: retinal dysgenesis) is often accompanied by retinal detachment and micropthalmos, but the latter features should be coded separately. HP:0007901|HP:0008022 human_phenotype owl:Class PR:000027222 biolink:NamedThing CALCA gene translation product A protein that is a translation product of the human CALCA gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl CALCA|CALC Category=gene. protein owl:Class HP:0007680 biolink:NamedThing Depigmented fundus tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024816 owl:Class HP:0010452 biolink:NamedThing Ectopia of the spleen An abnormal (non-anatomic) location of the spleen. tmpxe7fu0cj_hp_relaxed.owl Ectopic spleen|Abnormal spleen location UMLS:C0266632|SNOMEDCT_US:65146007 peter 2009-09-14T10:51:09Z human_phenotype owl:Class HP:0004854 biolink:NamedThing Intermittent thrombocytopenia Reduced platelet count that occurs sporadically, i.e., it comes and goes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839167 human_phenotype owl:Class HP:0031747 biolink:NamedThing Superior rectus muscle underaction Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:16:34+00:00 peter owl:Class HP:0007500 biolink:NamedThing Decreased number of sweat glands The presence of fewer than normal sweat glands. tmpxe7fu0cj_hp_relaxed.owl Decreased sweat glands|Decreased sweat pores UMLS:C4021574 HP:0007555|HP:0007594 human_phenotype owl:Class HP:0011308 biolink:NamedThing Slender toe Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. tmpxe7fu0cj_hp_relaxed.owl Narrow toe|Slender toe UMLS:C4021168 hecht 2012-02-12T12:39:51Z HP:0200091 human_phenotype owl:Class HP:0033644 biolink:NamedThing Elevated circulating erythropoietin concentration Increased amount of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating erythropoietin 2021-02-24 12:41:03+00:00 peter owl:Class NBO:0000546 biolink:NamedThing polyphagia "A pathological eating behavior characterised by an abnormally large intake of food by mouth, usually due to excessive hunger that is relatively prolonged." [NBO:GVG] HP:0000724|MP:0001433 tmpxe7fu0cj_hp_relaxed.owl hyperphagia 2011-04-10T10:41:10Z George Gkoutos behavior_ontology owl:Class NBO:0000539 biolink:NamedThing eating behavior phenotype "Observable characteristic of feeding behavior that relates to eating." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl eating disorder 2011-04-10T10:39:39Z George Gkoutos behavior_ontology owl:Class HP:0032208 biolink:NamedThing Increased urinary type 1 collagen N-terminal telopeptide level An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours. tmpxe7fu0cj_hp_relaxed.owl Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine|Increased urine NTx level 2019-01-20 16:17:52+00:00 Telopeptides are tiny protein particles found particularly in type I collagen that include 15-20 amino acids. Telopeptides bound to the ends of these amino acids are removed from the body through the urine as a result of collagen metabolism. During resorption, amino and carboxyl terminal fragments, called telopeptides, are bound to collagens with cross links and can be released into the circulation and excreted in the urine. Some recent studies have demonstrated that the type 1 collagen N-terminal telopeptide (NTx) level is more specific to bone tissue than any other resorption markers. peter owl:Class HP:0034080 biolink:NamedThing Anti-U3 RNP antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP. tmpxe7fu0cj_hp_relaxed.owl Anti-fibrillarin antibody positivity 2021-12-19 02:28:07+00:00 peter owl:Class HP:0031914 biolink:NamedThing Fluctuating Varying irregularly over time in severity, amount, or amplitude. tmpxe7fu0cj_hp_relaxed.owl 2018-07-01 21:29:25+00:00 peter owl:Class HP:0034086 biolink:NamedThing Anti-PM-Scl75 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 02:35:52+00:00 peter owl:Class HP:0100322 biolink:NamedThing Aplasia of the pyramidal tract tmpxe7fu0cj_hp_relaxed.owl Absent pyramidal tract UMLS:C4022147 doelkens 2010-08-10T04:00:24Z human_phenotype owl:Class MPATH:62 biolink:NamedThing cyst Formation of an epithelium bounded cavity not associated with neoplasia. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0012770 biolink:NamedThing Reduced arm span Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). tmpxe7fu0cj_hp_relaxed.owl Reduced arm span UMLS:C4022730 peter 2014-04-07T03:09:58Z human_phenotype owl:Class UBERON:0001988 biolink:NamedThing feces Portion of semisolid bodily waste discharged through the anus[MW,modified]. tmpxe7fu0cj_hp_relaxed.owl portionem cacas|spraint|scat|excrement|cow dung|portion of fecal material|portion of excrement|spoor|piece of shit|portion of fecal matter|excreta|stool|cow pat|fecal matter|faeces|dung|fecal material|guano|portion of dung|portion of guano|portion of scat|portion of feces|ordure|portion of faeces|droppings|frass|fewmet galen:Feces|ENVO:00002003|MAT:0000053|CALOHA:TS-2345|MESH:D005243|GAID:1199|BTO:0000440|FMA:64183|NCIT:C13234|MIAA:0000053|OpenCyc:Mx4rvVjJMZwpEbGdrcN5Y29ycA|MA:0002509|UMLS:C0015733 uberon owl:Class Excretion in semisolid state processed by the intestine.[FMA] fecal HP:0020178 biolink:NamedThing Abnormal dendritic cell count A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). tmpxe7fu0cj_hp_relaxed.owl Dendritic cells (DC), the professional antigen-pre-senting cells that prime specific immune responses,comprise a very small percentage of circulating whiteblood cells. robinp 2019-07-06 22:25:02+00:00 owl:Class HP:0032283 biolink:NamedThing Disseminated nontuberculous mycobacterial infection An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 23:26:04+00:00 peter owl:Class HP:0031137 biolink:NamedThing Storage in hepatocytes Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 15:30:13+00:00 peter owl:Class HP:0008596 biolink:NamedThing Postlingual sensorineural hearing impairment A form of sensorineural hearing impairment with onset after the acquisition of speech. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024654 human_phenotype owl:Class HP:0034001 biolink:NamedThing Anti-Complement factor H antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H. tmpxe7fu0cj_hp_relaxed.owl CFH autoantibodies 2021-08-21 14:41:55+00:00 peter owl:Class UBERON:0001747 biolink:NamedThing parenchyma of thyroid gland A parenchyma that is part of a thyroid follicle [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl thyroid parenchyma|thyroid gland follicle parenchyma|thyroid gland parenchyma|parenchyma of thyroid|parenchyma of thyroid follicle|parenchyma glandulae thyroideae|thyroid follicle parenchyma|parenchyma of thyroid gland follicle EMAPA:37769|BTO:0004579|FMA:55515|MA:0000730 uberon owl:Class HP:0100586 biolink:NamedThing Sterile pyuria Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria. tmpxe7fu0cj_hp_relaxed.owl Aseptic leukocyturia UMLS:C4022017 doelkens 2010-12-27T03:09:12Z human_phenotype owl:Class HP:0001058 biolink:NamedThing Poor wound healing A reduced ability to heal cutaneous wounds. tmpxe7fu0cj_hp_relaxed.owl Poor wound healing UMLS:C1851789 owl:Class HP:0032966 biolink:NamedThing Centrilobular emphysema A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones. tmpxe7fu0cj_hp_relaxed.owl Centriacinar emphysema peter owl:Class HP:0010868 biolink:NamedThing Ocular dyssynergia A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023680 peter 2010-08-18T01:20:05Z human_phenotype owl:Class UBERON:0005057 biolink:NamedThing immune organ An organ that is part of a immune system [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl immune system organ uberon owl:Class HP:0030649 biolink:NamedThing Pericentral tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073112 owl:Class HP:0033767 biolink:NamedThing Abnormal single motor unit action potential Abnormally high or low single motor unit action potential reading (-Pk Amps). tmpxe7fu0cj_hp_relaxed.owl 2021-04-30 11:50:43+00:00 peter owl:Class HP:0025534 biolink:NamedThing Ocular melanocytosis A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared. tmpxe7fu0cj_hp_relaxed.owl Ocular melanosis|Melanosis oculi 2017-05-18 01:13:19+00:00 In ocular melanocytosis, Intraocular pigmentation is also increased, which contributes to a higher incidence of glaucoma and increases the risk of malignant melanoma. HPO:probinson owl:Class HP:0000003 biolink:NamedThing Multicystic kidney dysplasia Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. tmpxe7fu0cj_hp_relaxed.owl Multicystic dysplastic kidney|Multicystic renal dysplasia|Multicystic kidneys MSH:D021782|SNOMEDCT_US:82525005|UMLS:C3714581|SNOMEDCT_US:204962002 Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound. HP:0004715 human_phenotype owl:Class CL:0000792 biolink:NamedThing CD4-positive, CD25-positive, alpha-beta regulatory T cell A CD4-positive, CD25-positive, alpha-beta T cell that regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release. tmpxe7fu0cj_hp_relaxed.owl suppressor T-lymphocyte|CD4-positive, CD25-positive, alpha-beta regulatory T lymphocyte|CD4-positive, CD25-positive, alpha-beta regulatory T-cell|suppressor T lymphocyte|Treg|suppressor T cell|CD4-positive, CD25-positive, alpha-beta regulatory T-lymphocyte|suppressor T-cell This cell type is compatible with the HIPC Lyoplate markers for 'Treg'. The inclusion of CD127lo in the logical definition is compatible with both human and mouse T cells of this subtype. cell owl:Class UBERON:0003436 biolink:NamedThing shoulder nerve A nerve that is part of a shoulder [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl nerve of shoulder EMAPA:37335|MA:0000634 uberon owl:Class HP:0100635 biolink:NamedThing Carotid paraganglioma A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022005 doelkens 2010-12-29T05:20:58Z human_phenotype owl:Class HP:0100888 biolink:NamedThing Interdigital loops tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021944 doelkens 2011-12-01T04:50:01Z human_phenotype owl:Class NCBITaxon:33682 biolink:NamedThing Euglenozoa tmpxe7fu0cj_hp_relaxed.owl Euglenozoans GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2611352 biolink:NamedThing Discoba tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:4000006 biolink:NamedThing Elevated myocardial native T1 Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity. tmpxe7fu0cj_hp_relaxed.owl Prolonged myocardial native T1 2021-04-24 16:47:52+00:00 robinp owl:Class HP:4000001 biolink:NamedThing Abnormal cardiac magnetic resonance imaging finding Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately. tmpxe7fu0cj_hp_relaxed.owl 2021-04-24 14:23:59+00:00 robinp owl:Class HP:0007021 biolink:NamedThing Pain insensitivity Inability to perceive painful stimuli. tmpxe7fu0cj_hp_relaxed.owl Absence of pain sensation SNOMEDCT_US:38433004|UMLS:C0344307 The word Anesthesia is occasionally used to refer to lack of pain sensation, although it is more usually used to denote a medical procedure design to relieve pain. HP:0003404 human_phenotype owl:Class HP:0007328 biolink:NamedThing Impaired pain sensation Reduced ability to perceive painful stimuli. tmpxe7fu0cj_hp_relaxed.owl Decreased pinprick sensation|Decreased pain sensation|Impaired pain sensation UMLS:C1837522 HP:0002713 human_phenotype owl:Class HP:0005430 biolink:NamedThing Recurrent Neisserial infections Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis). tmpxe7fu0cj_hp_relaxed.owl Episodes of neisserial infection|Recurrent neisseria infections UMLS:C3151083 HP:0005378|HP:0005377 human_phenotype owl:Class HP:0500237 biolink:NamedThing Decreased CSF histidine concentration Abnormally decreased levels of histidine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Low histidine levels in cerebrospinal fluid 2019-02-25 21:08:33+00:00 owl:Class UBERON:0014637 biolink:NamedThing thoracic spinal cord white matter A white matter of spinal cord that is part of a thoracic spinal cord. tmpxe7fu0cj_hp_relaxed.owl thoracic spinal cord white matter UMLS:C0228633|UMLS:C1288557|BIRNLEX:999|SCTID:367881009 uberon owl:Class HP:0007425 biolink:NamedThing Hyperextensible skin of face tmpxe7fu0cj_hp_relaxed.owl Stretchable face skin|Hyperelastic face skin UMLS:C4024883 human_phenotype owl:Class HP:0030048 biolink:NamedThing Colpocephaly Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. tmpxe7fu0cj_hp_relaxed.owl MSH:C535973|UMLS:C0431384|SNOMEDCT_US:253160006 owl:Class HP:0032606 biolink:NamedThing Renal tubular epithelial lipofuscin Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011343 biolink:NamedThing Moderate global developmental delay A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. tmpxe7fu0cj_hp_relaxed.owl Global developmental delay, moderate|Psychomotor retardation, moderate UMLS:C2237142 peter 2012-02-29T11:20:28Z human_phenotype owl:Class PATO:0001863 biolink:NamedThing chronic A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0040107 biolink:NamedThing Morphological abnormality of the posterior semicircular canal tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022436 HPO:skoehler owl:Class PATO:0000645 biolink:NamedThing hypoplastic A decreased size quality inhering in a bearer by virtue of the bearer's exhibiting reduced number of cells within an organ or tissue. tmpxe7fu0cj_hp_relaxed.owl hypoplasia|underdeveloped PATO:0000942 quality owl:Class HP:0002195 biolink:NamedThing Dysgenesis of the cerebellar vermis Defective development of the vermis of cerebellum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025719 Note that the term cerebellar dysgenesis is generally used to refer to a morphological abnormality of the cerebellum that is of presumed developmental (rather than acquired) origin,and is often diagnosed by means of magnetic resonance tomography. owl:Class HP:0032177 biolink:NamedThing Parenchymal consolidation Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia). tmpxe7fu0cj_hp_relaxed.owl 2019-01-06 11:25:27+00:00 In radiographs and CT scans, consolidation appears as a homogeneous increase in pulmonary parenchymal attenuation that obscures the margins of vessels and airway walls (See Figure 19 of PMID:18195376). An air bronchogram may be present. The attenuation characteristics of consolidated lung are only rarely helpful in differential diagnosis (eg, decreased attenuation in lipoid pneumonia and increased in amiodarone toxicity). peter owl:Class HP:0040281 biolink:NamedThing Very frequent Present in 80% to 99% of the cases. tmpxe7fu0cj_hp_relaxed.owl Very frequent (99-80%) ORPHA:453311 ORCID:0000-0002-5316-1399 owl:Class GO:1905385 biolink:NamedThing negative regulation of protein localization to presynapse Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to presynapse. tmpxe7fu0cj_hp_relaxed.owl downregulation of recruitment of presynaptic proteins|down-regulation of protein localization in presynapse|downregulation of protein localisation in presynapse|negative regulation of protein localisation in presynapse|down regulation of protein localization to presynapse|negative regulation of protein localisation to presynapse|inhibition of protein localisation to presynapse|inhibition of protein localization to presynapse|inhibition of protein localization in presynapse|down-regulation of protein localisation in presynapse|down-regulation of protein localization to presynapse|negative regulation of protein localization in presynapse|inhibition of recruitment of presynaptic proteins|down-regulation of recruitment of presynaptic proteins|downregulation of protein localization to presynapse|negative regulation of recruitment of presynaptic proteins|down regulation of protein localization in presynapse|downregulation of protein localisation to presynapse|down-regulation of protein localisation to presynapse|inhibition of protein localisation in presynapse|down regulation of protein localisation to presynapse|downregulation of protein localization in presynapse|down regulation of recruitment of presynaptic proteins|down regulation of protein localisation in presynapse dos 2016-08-18T14:56:08Z biological_process owl:Class HP:0033592 biolink:NamedThing Anti-H3-H4 antibody positivity The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer. tmpxe7fu0cj_hp_relaxed.owl 2021-01-28 02:13:35+00:00 peter owl:Class HP:0025525 biolink:NamedThing Scaling skin on fingertip Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips. tmpxe7fu0cj_hp_relaxed.owl 2017-05-17 23:53:56+00:00 HPO:probinson owl:Class HP:0100753 biolink:NamedThing Schizophrenia A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:191526005|UMLS:C0036341|MSH:D012559|SNOMEDCT_US:58214004 Positive symptoms, such as delusions and hallucinations (especially of voices), are common, and any Schneiderian first-rank symptoms are particularly indicative of the illness. Negative symptoms include social withdrawal, impairment of ego boundaries, and loss of energy and initiative. Schizophrenia is diagnosed only if symptoms persist for at least one month. The illness can spontaneously remit, run a course with infrequent or frequent relapses, or become chronic. The prognosis has improved with antipsychotic drugs and with vigorous psychological and social management and rehabilitation. The many causes include genetic factors, environmental stress, and various triggering factors. doelkens 2011-06-07T09:53:08Z human_phenotype owl:Class HP:0430022 biolink:NamedThing Abnormality of the sphenoid sinus An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the sphenoidal sinus UMLS:C4073204 owl:Class HP:0011726 biolink:NamedThing Persistent fetal circulation Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course. tmpxe7fu0cj_hp_relaxed.owl Persistent foetal circulation MSH:D010547|SNOMEDCT_US:206597007|SNOMEDCT_US:35604006|UMLS:C0031190|SNOMEDCT_US:233815004 peter 2012-04-11T09:02:26Z human_phenotype owl:Class HP:0031283 biolink:NamedThing Tufted hairs The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 17:39:57+00:00 peter owl:Class HP:0031663 biolink:NamedThing Paradoxical splitting of the second heart sound Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern). tmpxe7fu0cj_hp_relaxed.owl Paradoxical splitting of S2|Reversed splitting of the second heart sound|Reversed splitting of S2 2017-12-17 16:11:27+00:00 peter owl:Class HP:0032473 biolink:NamedThing Decreased urine urobilinogen An abnormally reduced concentration of urobilinogen in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 11:54:30+00:00 Urinary urobilinogen can be reduced or absent if reduced amounts of bilirubin are excreted into the intestinal tract. peter owl:Class HP:0005187 biolink:NamedThing Progressive joint destruction tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025243 human_phenotype owl:Class PR:000007856 biolink:NamedThing gastrin A protein that is a translation product of the human GAST gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl GAST|GAS Category=gene. protein owl:Class HP:0032519 biolink:NamedThing Increased Burr cell count Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals. tmpxe7fu0cj_hp_relaxed.owl 2019-05-26 11:08:57+00:00 peter owl:Class HP:0004467 biolink:NamedThing Preauricular pit Small indentation anterior to the insertion of the ear. tmpxe7fu0cj_hp_relaxed.owl Ear pit|Preauricular sinus|Preauricular earpits|Pit in front of the ear|Preauricular fistulas|Preauricular pits UMLS:C0546969|SNOMEDCT_US:204271000|UMLS:C0266625|UMLS:C0266610|SNOMEDCT_US:204272007|SNOMEDCT_US:1955003|MSH:C563015 Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. HP:0008578|HP:0004460|HP:0008552|HP:0005118|HP:0000392 human_phenotype owl:Class HP:0100670 biolink:NamedThing Coarse metaphyseal trabecularization Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms. tmpxe7fu0cj_hp_relaxed.owl Coarse trabeculation at metaphyses|Rough bone trabeculation|Rough trabeculation of bone UMLS:C4020958 doelkens 2010-12-30T01:29:46Z owl:Class HP:0033649 biolink:NamedThing Paraseptal emphysema Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae. tmpxe7fu0cj_hp_relaxed.owl Distal acinar emphysema 2021-02-24 12:52:39+00:00 See Figure 47 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0012074 biolink:NamedThing Tonic pupil An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation. tmpxe7fu0cj_hp_relaxed.owl Adie pupil|Adie's tonic pupil MSH:D015845|SNOMEDCT_US:24225004|UMLS:C0040416 hecht 2012-08-11T09:58:20Z human_phenotype owl:Class HP:0008347 biolink:NamedThing Decreased activity of mitochondrial complex IV A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. tmpxe7fu0cj_hp_relaxed.owl Respiratory complex IV deficiency UMLS:C4020800 human_phenotype owl:Class HP:0006603 biolink:NamedThing Flared, irregular rib ends tmpxe7fu0cj_hp_relaxed.owl Flared, irregular rib ends UMLS:C1865833 human_phenotype owl:Class HP:0011572 biolink:NamedThing Supramitral ring A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve. tmpxe7fu0cj_hp_relaxed.owl Membranous supravalvular mitral stenosis|Supravalvular mitral ring UMLS:C4021142 peter 2012-04-08T08:49:07Z human_phenotype owl:Class HP:0033637 biolink:NamedThing Anti-endomysial antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2). tmpxe7fu0cj_hp_relaxed.owl Anti-transglutaminase 2 antibody positivity 2021-02-03 13:26:13+00:00 peter owl:Class HP:0031007 biolink:NamedThing Orofacial action-specific dystonia induced by speech tmpxe7fu0cj_hp_relaxed.owl Jaw dystonia induced by speaking 2017-05-13 21:07:23+00:00 peter owl:Class HP:0030132 biolink:NamedThing Absence of large von Willibrand factor multimers Absence of large von Willebrand Factor multimers on gel electrophoresis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022616 Type 2B von Willibrand disease is characterized by lack of large von Willibrand factor multimers with an otherwise normal von Willibrand factor multimer pattern. owl:Class HP:0032819 biolink:NamedThing Neonatal bilateral clonic seizure Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0003447 biolink:NamedThing Axonal loss A reduction in the number of axons in the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1832338 This finding can be observed upon nerve biopsy. HP:0003360 human_phenotype owl:Class HP:0010634 biolink:NamedThing Total hyposmia Reduced ability to detect any qualitative olfactory sensation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023766 peter 2009-12-06T07:54:13Z owl:Class HP:0003575 biolink:NamedThing Increased intracellular sodium An abnormally increased sodium concentration in the cytosol. tmpxe7fu0cj_hp_relaxed.owl High intracellular Na|Increased intracellular Na+ levels UMLS:C4025593 human_phenotype owl:Class MPATH:335 biolink:NamedThing hematopoietic/lymphoid malignancies/disorder Proliferative disorders and malignancies of the lymphoid and non lymphoid haematopoietic lineages. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class PATO:0001829 biolink:NamedThing female pseudohermaphrodite A biological sex quality inhering in an individual or a population by virtue of having internal reproductive organs of female and external sexual characteristics of male. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class PR:O09100 biolink:NamedThing endothelial transcription factor GATA-2 (mouse) An endothelial transcription factor GATA-2 that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl mGATA2|Gata2|GATA-binding protein 2 (mouse) UniProtKB:O09100 Category=organism-gene. protein owl:Class HP:0100581 biolink:NamedThing Dilatation of renal calices An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. tmpxe7fu0cj_hp_relaxed.owl Caliceal dilatation|Caliectasis|Megacalicosis UMLS:C4022019 doelkens 2010-12-27T02:44:04Z human_phenotype owl:Class HP:0033436 biolink:NamedThing Elevated circulating 3-methyl-2-oxovaleric acid concentration An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 18:25:27+00:00 peter owl:Class PATO:0000405 biolink:NamedThing curled A shape quality inhering in a bearer by virtue of the bearer's having parallel chains in undulate fashion on the border. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class CL:0008024 biolink:NamedThing pancreatic endocrine cell An endocrine cell that is part of the pancreas. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0031974 biolink:NamedThing Increased vertical cup-to-disc ratio - 0.6 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3). tmpxe7fu0cj_hp_relaxed.owl 2018-07-08 00:13:08+00:00 peter owl:Class HP:0025530 biolink:NamedThing Xanthomas of the palmar creases The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. tmpxe7fu0cj_hp_relaxed.owl Xanthoma striatum palmare|Xanthoma palmare striatum 2017-05-18 00:34:15+00:00 HPO:probinson owl:Class HP:0030836 biolink:NamedThing Wrist pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist. tmpxe7fu0cj_hp_relaxed.owl Wrist pain SNOMEDCT_US:56608008|SNOMEDCT_US:202482009|UMLS:C0221785 owl:Class HP:0004617 biolink:NamedThing Butterfly vertebral arch Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861627 human_phenotype owl:Class HP:0031537 biolink:NamedThing Anomalous origin of the left circumflex artery from the right coronary artery An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA). tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 01:19:28+00:00 peter owl:Class HP:0003932 biolink:NamedThing Sclerotic foci of humeral diaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025497 human_phenotype owl:Class HP:0003694 biolink:NamedThing Late-onset proximal muscle weakness Lack of strength of the proximal musculature occurring late in the clinical course. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025578 human_phenotype owl:Class HP:0033984 biolink:NamedThing Increased urinary 8-oxo-7,8-dihydroguanosine level An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urinary 8-oxo-7,8-dihydroguanosine|Increased urine 8-oxo-GMP|Increased urinary 8-oxo-Gsn level|Increased urine 8-oxo-7,8-dihydroguanosine 2021-07-15 11:47:35+00:00 peter owl:Class MAXO:0010207 biolink:NamedThing musculoskeletal ultrasonography The use of ultrasound to produce images of structures in the musculoskeletal system. tmpxe7fu0cj_hp_relaxed.owl musculoskeletal system ultrasound imaging procedure|musculoskeletal system sonography|musculoskeletal system ultrasound procedure|musculoskeletal system ultrasound examination|musculoskeletal system medical ultrasound|ultrasonography of musculoskeletal system|sonography of musculoskeletal system|musculoskeletal system diagnostic sonography 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-2975 owl:Class HP:0032588 biolink:NamedThing Hand apraxia Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects. tmpxe7fu0cj_hp_relaxed.owl Lack of purposeful hand use peter owl:Class HP:0010615 biolink:NamedThing Angiofibromas Angiofibroma consist of many often dilated vessels. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:302857002|UMLS:C0206731|SNOMEDCT_US:60392001|MSH:D018322|NCIT:C3799 sandra1 2009-10-28T06:00:14Z human_phenotype owl:Class HP:0001562 biolink:NamedThing Oligohydramnios Diminished amniotic fluid volume in pregnancy. tmpxe7fu0cj_hp_relaxed.owl Maternal oligohydramnios|Low levels of amniotic fluid UMLS:C0079924|UMLS:C3550658|SNOMEDCT_US:59566000|MSH:D016104 Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm. HP:0004638 owl:Class GO:0036194 biolink:NamedThing muscle cell projection A prolongation or process extending from a muscle cell. A muscle cell is a mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. tmpxe7fu0cj_hp_relaxed.owl muscle arm|myopodia|myocyte projection bf 2012-04-20T10:20:47Z cellular_component owl:Class HP:0410189 biolink:NamedThing Increased glucose-6-phosphate dehydrogenase level in red blood cells An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells. tmpxe7fu0cj_hp_relaxed.owl Increased G6PD level in RBCs|Increased G6PD level in red blood cells 2018-05-21 18:03:42+00:00 owl:Class HP:0003352 biolink:NamedThing Endopolyploidy on chromosome studies of bone marrow An increase in the number of chromosome sets per cell in bone marrow cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025624 Endopolyploidy is caused by replication without cell division. human_phenotype owl:Class PR:000010228 biolink:NamedThing myelin basic protein tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0005608 biolink:NamedThing Bilobate gallbladder The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium. tmpxe7fu0cj_hp_relaxed.owl Double gallbladder|Bilobed gallbladder|Gallbladder duplication UMLS:C1846422 During the fifth or early sixth embryonic week, occasionally, the gallbladder primordium bifurcates and results in duplication of gallbladder. Duplication results from a split primordium whilst a true accessory gallbladder results from an extra primordium. There are no specific symptoms or signs associated with multiple gallbladders. human_phenotype owl:Class HP:0012760 biolink:NamedThing Impaired social reciprocity A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022736 peter 2014-04-03T12:52:44Z human_phenotype owl:Class PATO:0070045 biolink:NamedThing anatomical histological quality A quality inhering in an anotomical structure by virtue of its capacity to be stained by specific histological dyes. tmpxe7fu0cj_hp_relaxed.owl http://orcid.org/0000-0001-7258-9596 quality owl:Class HP:0003609 biolink:NamedThing Foam cells with lamellar inclusion bodies The presence of foam cells that contain lamellar inclusion bodies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025590 Foam cells with lamellar inclusion bodies are thought to be a hallmark of cellular phospholipidosis, i.e., of the excess accumulation of phospholipids. This abnormality can be assayed by electron microscopy. owl:Class HP:0410334 biolink:NamedThing Fungi allergy Hypersensitivity in form of an adverse immune reaction against fungus. tmpxe7fu0cj_hp_relaxed.owl Fungal allergy|Fungi allergy|Fungus allergy|Allergy to fungi|IgE-mediated fungi allergy|Immunoglobulin E-mediated fungi allergy owl:Class HP:0030086 biolink:NamedThing Reduced CSF lactate Decreased concentration of lactate in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Hypolactatorachia UMLS:C4022655 owl:Class HP:0008762 biolink:NamedThing Repetitive compulsive behavior tmpxe7fu0cj_hp_relaxed.owl Repetitive compulsive behavior|Repetitive compulsive behaviour UMLS:C1969697 human_phenotype owl:Class HP:0004631 biolink:NamedThing Decreased cervical spine flexion due to contractures of posterior cervical muscles tmpxe7fu0cj_hp_relaxed.owl Contracture of post-cervical muscles|Inability to touch chin to chest UMLS:C4280512|UMLS:C1839653 human_phenotype owl:Class HP:0100626 biolink:NamedThing Chronic hepatic failure tmpxe7fu0cj_hp_relaxed.owl Chronic liver failure SNOMEDCT_US:235886005|UMLS:C2936476|MSH:D058625 doelkens 2010-12-28T04:59:16Z human_phenotype owl:Class HP:0032567 biolink:NamedThing Lipiduria An increased lipid content in the urine. tmpxe7fu0cj_hp_relaxed.owl Urinary lipid excretion 2019-06-19 10:35:31+00:00 peter owl:Class HP:0030436 biolink:NamedThing Fibrofolliculoma Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation. tmpxe7fu0cj_hp_relaxed.owl Fibrofolliculomas SNOMEDCT_US:254699007|UMLS:C0346011|SNOMEDCT_US:128683008 owl:Class HP:0034098 biolink:NamedThing Anti-phosphatidyl glycerol antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 14:56:23+00:00 peter owl:Class CHEBI:50689 biolink:NamedThing reproductive control drug A substance used either in the prevention or facilitation of pregnancy. tmpxe7fu0cj_hp_relaxed.owl reproductive control drugs|reproductive control agent chebi_ontology owl:Class HP:0032107 biolink:NamedThing Limbal stem cell deficiency A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus. tmpxe7fu0cj_hp_relaxed.owl 2018-11-17 14:09:53+00:00 The corneal epithelium covers the corneal surface and plays a major role in protection and transparency. Epithelial cells are shed regularly and replaced by stem cell sources located at the limbus, a rim of tissue located at the junction of the cornea and sclera. The limbal epithelial stem cells reside in specific regions at the limbus known as the limbal stem cell niches. Damage to the stem cells or disruption of the niches may lead to Limbal Stem Cell Deficiency. In the absence of a healthy corneal epithelium, the conjunctiva proliferates over the cornea resulting in opacification and vascularization, which in turn may lead to reduced vision, pain, and photophobia. peter owl:Class HP:0011115 biolink:NamedThing Abnormality of chemokine secretion An abnormality in the production or cellular release of a chemokine (a class of cytokines). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023532 peter 2011-06-12T09:14:25Z owl:Class HP:0031259 biolink:NamedThing Oophoritis An inflammation of the ovary or ovaries. tmpxe7fu0cj_hp_relaxed.owl Inflammed ovary 2017-08-12 16:02:34+00:00 peter owl:Class HP:0500111 biolink:NamedThing Positive urine benzodiazepines test Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine. tmpxe7fu0cj_hp_relaxed.owl 2018-06-25 16:04:20+00:00 owl:Class HP:0025025 biolink:NamedThing Rectovestibular fistula A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening. tmpxe7fu0cj_hp_relaxed.owl Vestibular fistula 2016-08-26 11:49:07+00:00 The condition can cause feces and gas to exit the vaginal vestibule. HPO:probinson owl:Class HP:0410309 biolink:NamedThing Alpha-aminoadipic aciduria A increased concentration of alpha-aminoadipic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl 2-aminoadipic aciduria https://orcid.org/0000-0001-5208-3432 owl:Class HP:0004273 biolink:NamedThing Cupped metaphyses of hand bones tmpxe7fu0cj_hp_relaxed.owl Cupped metaphysis of hand bones|Cupped wide portion of hand bones UMLS:C4025377 human_phenotype owl:Class HP:0030620 biolink:NamedThing Inner retinal layer loss on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073090 owl:Class HP:0005197 biolink:NamedThing Generalized morning stiffness A sensation of stiffness in the joints that occurs following waking up in the morning. tmpxe7fu0cj_hp_relaxed.owl Generalised morning stiffness UMLS:C4025238 human_phenotype owl:Class HP:0004344 biolink:NamedThing Abnormality of cerebrosidase metabolism tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025349 peter 2008-03-08T08:36:00Z human_phenotype owl:Class UBERON:0004502 biolink:NamedThing skeletal muscle tissue of biceps brachii A portion of skeletal muscle tissue that is part of a biceps brachii [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl skeletal muscle tissue of biceps brachii muscle FMA:261974 uberon owl:Class HP:0007439 biolink:NamedThing Generalized keratosis follicularis tmpxe7fu0cj_hp_relaxed.owl Generalised keratosis follicularis UMLS:C4024879 human_phenotype owl:Class HP:0004481 biolink:NamedThing Progressive macrocephaly The progressive development of an abnormally large skull. tmpxe7fu0cj_hp_relaxed.owl Progressively abnormally enlarging skull|Progressively abnormally enlarging cranium|Macrocephaly, progressive UMLS:C1859896 HP:0000261 human_phenotype owl:Class HP:0031522 biolink:NamedThing Cervical clear cell adenocarcinoma A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm. tmpxe7fu0cj_hp_relaxed.owl Clear cell carcinoma of cervix 2017-09-23 01:51:13+00:00 peter owl:Class HP:0033268 biolink:NamedThing Deflation of the glomerular tuft Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 16:01:47+00:00 peter owl:Class HP:0030598 biolink:NamedThing Abnormal Humphrey SITA 10-2 perimetry test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073070 owl:Class HP:0002333 biolink:NamedThing Motor deterioration Loss of previously present motor (i.e., movement) abilities. tmpxe7fu0cj_hp_relaxed.owl Progressive degeneration of movement UMLS:C1866284 owl:Class HP:0025385 biolink:NamedThing Diet-resistant subcutaneous adipose tissue below waist Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. tmpxe7fu0cj_hp_relaxed.owl 2017-04-21 11:55:24+00:00 HPO:probinson owl:Class HP:0100002 biolink:NamedThing Pleural mesothelioma A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0812413|SNOMEDCT_US:254645002|NCIT:C3234 doelkens 2010-05-11T04:16:23Z human_phenotype owl:Class HP:0007924 biolink:NamedThing Slow decrease in visual acuity tmpxe7fu0cj_hp_relaxed.owl Subacute deterioration of visual acuity|Decreased visual acuity, slowly progressive|Slow decrease in sharpness of vision UMLS:C1853141|UMLS:C3278981 HP:0007652 human_phenotype owl:Class HP:0011647 biolink:NamedThing Postductal coarctation of the aorta Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch. tmpxe7fu0cj_hp_relaxed.owl Postductal aortic coarctation SNOMEDCT_US:72242008|UMLS:C0265879 Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues. peter 2012-04-09T09:49:36Z human_phenotype owl:Class HP:0012672 biolink:NamedThing Akinetic mutism Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0001889|SNOMEDCT_US:53333005|MSH:D000405 peter 2014-02-27T10:50:59Z human_phenotype owl:Class HP:0004810 biolink:NamedThing Congenital hypoplastic anemia A type of hypoplastic anemia with congenital onset. tmpxe7fu0cj_hp_relaxed.owl Congenital hypoplastic anaemia|Congenital dyserythropoietic anemia|Congenital dyserythropoietic anaemia SNOMEDCT_US:234371002|UMLS:C0002876|SNOMEDCT_US:88854002|UMLS:C1260899|SNOMEDCT_US:52951008|MSH:D029503|MSH:D000742 In this condition, hematopoiesis must have been inadequate in fetal life. Affected infant have marked pallor and reticulocytopenia or absence of red blood cell precursors in an otherwise normally cellular bone marrow. This term does not refer to a particular diagnosis or etiology (or which several are known) but to the phenotypic feature. HP:0005545 human_phenotype owl:Class UBERON:0004650 biolink:NamedThing tongue keratinized epithelium A keratinized stratified squamous epithelium that is part of a tongue. tmpxe7fu0cj_hp_relaxed.owl keratinized epithelium of tongue MA:0002787|FMA:74865 uberon owl:Class UBERON:0004257 biolink:NamedThing upper leg blood vessel A blood vessel that is part of a hindlimb stylopod [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hind limb stylopod blood vessel|blood vessel of thigh|blood vessel of stylopod of hind limb|blood vessel of stylopod of hindlimb|thigh blood vessel|blood vessel of upper leg|hindlimb stylopod blood vessel EMAPA:37299|MA:0000681 uberon owl:Class HP:0001583 biolink:NamedThing Rotary nystagmus A form of nystagmus in which the eyeball makes rotary motions around the axis. tmpxe7fu0cj_hp_relaxed.owl Rotatory Nystagmus UMLS:C0240595|SNOMEDCT_US:44526006|SNOMEDCT_US:95783006|MSH:D009759 human_phenotype owl:Class HP:0025726 biolink:NamedThing Type 2 congenital pulmonary airway malformation A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance). tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0012012 biolink:NamedThing EEG with parietal focal spike waves EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023079 hecht 2012-07-20T12:00:43Z human_phenotype owl:Class HP:0031029 biolink:NamedThing Elevated carcinoembryonic antigen level An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker. tmpxe7fu0cj_hp_relaxed.owl Increased plasma CEA 2017-05-27 10:48:16+00:00 peter owl:Class HP:0031660 biolink:NamedThing Loud first heart sound Abnormally increased volume of the first heart sound. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 16:05:06+00:00 S1 may be loud in early phases of rheumatic mitral stenosis. peter owl:Class HP:0032372 biolink:NamedThing Increased peripheral blast count An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications. tmpxe7fu0cj_hp_relaxed.owl Elevated blast count|Elevated circulating blasts|Increased peripheral myeloblast count 2019-02-24 13:28:31+00:00 peter owl:Class HP:0500050 biolink:NamedThing Retinopathy of prematurity stage 1 The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina. tmpxe7fu0cj_hp_relaxed.owl ROP stage 1 2018-02-19 18:27:23+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0034021 biolink:NamedThing Anti-HLA-A IgG3 antibody positivity The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A). tmpxe7fu0cj_hp_relaxed.owl 2021-09-04 15:25:15+00:00 peter owl:Class HP:0040233 biolink:NamedThing Factor XIII subunit A deficiency Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. tmpxe7fu0cj_hp_relaxed.owl Reduced factor XIII, subunit A MSH:C567691|UMLS:C2750514 Measurement of subunit A or B can be performed by Elisa kits. Adding the more granular term would facilitate mutation analysis as both subunits are encoded by different genes. This is not always performed in the diagnostic workup so 'Reduced factor XIII activity' would sufice. This term has been requested and created by members of the BRIDGE consortium owl:Class HP:0012579 biolink:NamedThing Minimal change glomerulonephritis The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. tmpxe7fu0cj_hp_relaxed.owl Minimal change disease|Minimal change nephropathy MSH:D009402|SNOMEDCT_US:44785005|UMLS:C0027721 peter 2014-01-16T01:26:20Z human_phenotype owl:Class HP:0005235 biolink:NamedThing Jejunal atresia A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0266175|MSH:D007409|SNOMEDCT_US:360491009|SNOMEDCT_US:204702007 HP:0011101 owl:Class HP:0030864 biolink:NamedThing Intercostal retractions A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress. tmpxe7fu0cj_hp_relaxed.owl Chest retractions UMLS:C0425470|SNOMEDCT_US:6442005 owl:Class HP:0005072 biolink:NamedThing Hyperextensibility at wrists The ability of the wrist joints to move beyond their normal range of motion. tmpxe7fu0cj_hp_relaxed.owl Increased wrist mobility|Increased laxity of wrists UMLS:C1850853 human_phenotype owl:Class HP:0003309 biolink:NamedThing Ovoid thoracolumbar vertebrae tmpxe7fu0cj_hp_relaxed.owl Ovoid thoracic and lumbar vertebrae UMLS:C1868556 human_phenotype owl:Class UBERON:0011864 biolink:NamedThing tendon collagen fibril The connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0033004 biolink:NamedThing Palmar warts Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV). tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0031901 biolink:NamedThing Elevated total serum tryptase An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2018-05-19 15:17:36+00:00 Tryptase is a serine protease that is primarily produced and stored in mast cells (MCs) and less abundantly in blood basophils [31-34]. In tissue MCs, tryptase is produced and released in a constitutive manner, regardless of the organ, location of MCs, maturation stage or subtype of MCs. Mature tissue MCs also store larger quantities of the enzyme in their metachromatic granules. Two major forms of tryptase are produced in MCs, alpha-tryptase and beta-tryptase. Whereas the alpha form is produced and released constantly in MCs, the beta-form is primarily stored in MC granules. During an anaphylactic reaction, MCs rapidly release substantial amounts of alpha- and beta tryptases. Current tests measure total tryptase (alpha and beta), not differentiating between these isoforms. The presence of elevated tryptase may occur acutely due to mast cell degranulation. Alternatively, chronic elevation of basal serum tryptase may be present in individuals with: 1) clonal myeloid neoplasms; 2) the genetic trait hereditary alpha-tryptasemia; 3) chronic kidney disease. Serum tryptase levels are useful in the diagnosis of mast cell activation, clonal myeloid disease, and hereditary alpha-tryptasemia. peter HP:0031900 owl:Class HP:0012161 biolink:NamedThing External carotid artery dissection A separation (dissection) of the layers of the external carotid artery wall. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023016 peter 2013-02-16T07:33:34Z human_phenotype owl:Class HP:0410308 biolink:NamedThing Decreased specific antibody response to infection A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection. tmpxe7fu0cj_hp_relaxed.owl 2019-01-30 19:50:11+00:00 owl:Class HP:0033083 biolink:NamedThing Increased circulating farnesol concentration An elevated level of farnesol in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Farnesol is a farnesane sesquiterpenoid that is dodeca-2,6,10-triene substituted by methyl groups at positions 3, 7 and 11 and a hydroxy group at position 1. Its concentration in the blood circulation is increased in inherited squalene synthase deficiency. peter owl:Class HP:0025232 biolink:NamedThing Bursitis Inflammation of a synovial bursa. tmpxe7fu0cj_hp_relaxed.owl 2016-12-14 11:33:51+00:00 HPO:probinson owl:Class HP:0410374 biolink:NamedThing Abnormal proportion of naive CD8 T cells Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0007610 biolink:NamedThing Blotching pigmentation of the skin tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024831 human_phenotype owl:Class HP:0011810 biolink:NamedThing Impaired two-point discrimination A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023178 A normal individual can sense about a 3 mm separation of points on the fingertips. peter 2012-04-28T02:50:12Z human_phenotype owl:Class HP:0011090 biolink:NamedThing Fused teeth The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch. tmpxe7fu0cj_hp_relaxed.owl Fused teeth|Fusion of teeth|Joined teeth MSH:D005671|UMLS:C0016873|SNOMEDCT_US:1744008 peter 2011-03-11T02:17:04Z owl:Class HP:0012407 biolink:NamedThing Scissor gait A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use. tmpxe7fu0cj_hp_relaxed.owl Scissors gait|Scissor walk|Scissor gait UMLS:C0231698|SNOMEDCT_US:22090007|MSH:D020233 Scissor gait is a form of gait abnormality primarily associated with spastic cerebral palsy. peter 2013-11-09T04:15:36Z human_phenotype owl:Class HP:0031958 biolink:NamedThing Spastic paraparetic gait A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait. tmpxe7fu0cj_hp_relaxed.owl 2018-07-07 14:02:38+00:00 peter owl:Class HP:0007590 biolink:NamedThing Aplasia cutis congenita over posterior parietal area tmpxe7fu0cj_hp_relaxed.owl UMLS:C1863495 human_phenotype owl:Class HP:0410219 biolink:NamedThing Hypoplasia of mandible relative to maxilla Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw). tmpxe7fu0cj_hp_relaxed.owl Disorder of mandibular and maxillary dental arch relationship 2018-09-25 00:54:14+00:00 owl:Class HP:0030274 biolink:NamedThing Accessory scrotum Additional scrotum, or part of a scrotum in an abnormal location. tmpxe7fu0cj_hp_relaxed.owl Extra scrotum UMLS:C4022543 An accessory scrotum is typically located on the perineum, frequently associated with perineal lipoma, and occasionally with Hypospadias or Bifid penis, which should be coded separately. owl:Class HP:0008676 biolink:NamedThing Congenital megaureter A developmental disturbance with extreme ureteral dilatation. tmpxe7fu0cj_hp_relaxed.owl Congenital megaloureter SNOMEDCT_US:718485003|UMLS:C0266324|SNOMEDCT_US:95576001 The cause of congenital megaloureter is thought to be aperistalsis of the distal ureter, leading to dilatation. The defect in peristalsis may be due to faulty development of muscle layers of ureter, that is, there is a functional, not a mechanical cause of obstruction. owl:Class HP:0033234 biolink:NamedThing Mesangial hyaline deposition Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. tmpxe7fu0cj_hp_relaxed.owl 2020-10-31 12:56:56+00:00 peter owl:Class PATO:0001955 biolink:NamedThing cuneate A shape quality inhering in a bearer by virtue of the bearer's being narrowly triangular, wider at the apex and tapering toward the base. tmpxe7fu0cj_hp_relaxed.owl wedge-shaped quality owl:Class PATO:0001875 biolink:NamedThing triangular A shape quality inhering in a bearer by virtue of the bearer's having three angles. tmpxe7fu0cj_hp_relaxed.owl triangle|deltoid|delta shaped|triangle-shaped quality owl:Class HP:0006789 biolink:NamedThing Mitochondrial encephalopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C1852373|MSH:C538525 human_phenotype owl:Class HP:0033261 biolink:NamedThing Renal artery aneurysm Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 14:56:45+00:00 peter owl:Class HP:0012473 biolink:NamedThing Tongue atrophy Wasting of the tongue. tmpxe7fu0cj_hp_relaxed.owl Wasting of the tongue|Lingual atrophy|Lingual wasting|Atrophy of the tongue SNOMEDCT_US:50805004|UMLS:C0241423|SNOMEDCT_US:249382006|UMLS:C0426494 peter 2013-11-26T10:32:31Z human_phenotype owl:Class HP:0008511 biolink:NamedThing Central posterior corneal opacity Reduced transparency of the central posterior portion of the corneal stroma. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0423260|SNOMEDCT_US:246967007 human_phenotype owl:Class HP:0032365 biolink:NamedThing Exacerbated by aspirin ingestion Applied to a sign or symptom that is worsened by ingestion of aspirin. tmpxe7fu0cj_hp_relaxed.owl 2019-02-23 17:36:45+00:00 peter owl:Class HP:4000040 biolink:NamedThing Puerpural onset Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 20:36:09+00:00 robinp owl:Class NBO:0000233 biolink:NamedThing motivation behavior "Behavior related to the tendency of an organism to maintain internal equilibrium." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl maintenance behaviour|behavioral homeostasis|perception of need 2011-04-04T08:29:40Z George Gkoutos NBO:0000050 behavior_ontology owl:Class HP:0009590 biolink:NamedThing Unilateral vestibular Schwannoma A unilateral vestibular Schwannoma (acoustic neurinoma). tmpxe7fu0cj_hp_relaxed.owl UMLS:C1863653 peter 2009-01-28T10:40:23Z human_phenotype owl:Class HP:0100453 biolink:NamedThing Osteolytic defects of the middle phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022074 human_phenotype owl:Class HP:0011439 biolink:NamedThing Anesthetic-induced rhabdomylosis Rhabdomyolysis induced by anesthesia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023356 peter 2012-03-18T12:19:01Z human_phenotype owl:Class HP:0012170 biolink:NamedThing Nail-biting Habitual biting of one's own fingernails. tmpxe7fu0cj_hp_relaxed.owl Onychophagia|Onychophagy|Nail-biting ICD-10:F98.8|SNOMEDCT_US:37298006|MSH:D009259|UMLS:C0027338 peter 2013-02-20T09:40:31Z human_phenotype owl:Class HP:0012169 biolink:NamedThing Self-biting Habitual biting of one's own body. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0424375|SNOMEDCT_US:248072009 Biting of one's own arms, lip, check, finger etc. peter 2013-02-20T09:36:42Z human_phenotype owl:Class GO:0035190 biolink:NamedThing syncytial nuclear migration The directed movement of nuclei within the syncytial embryo of insects. These precise temporal and spatial patterns of nuclear movement are coordinated with mitotic divisons and are required during blastoderm formation to reposition dividing nuclei from the interior of the syncytial embryo to the cortex. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class PATO:0000635 biolink:NamedThing unlocalised A spatial pattern inhering in a bearer by virtue of the bearer's not being confined or restricted to a particular location. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0007511 biolink:NamedThing Mottled pigmentation of photoexposed areas tmpxe7fu0cj_hp_relaxed.owl UMLS:C3151964 human_phenotype owl:Class GO:0006835 biolink:NamedThing dicarboxylic acid transport The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl sodium:dicarboxylate transport GO:0006841 biological_process owl:Class HP:0033565 biolink:NamedThing Anti-epidermal transglutaminase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase. tmpxe7fu0cj_hp_relaxed.owl Anti-epidermal transglutaminase (anti-eTG) antibody|Anti-eTG antibody positivity|Anti-TG3 antibody|Anti-keratinocyte transglutaminase 2021-01-23 13:00:15+00:00 peter owl:Class HP:5000019 biolink:NamedThing Anti-Kelch like protein 11 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11). tmpxe7fu0cj_hp_relaxed.owl Anti-KLHL11 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0041052 biolink:NamedThing Agenesis of putamen A developmental defect characterized by the absence of the putamen owing to its failure to develop. tmpxe7fu0cj_hp_relaxed.owl The basal ganglia are symmetrical subcortical grey nuclei at the core of the extrapyramidal system, composed by the striatum (which comprises the putamen, caudate nucleus, olfactory tubercle, and nucleus accumbens), the pallidum, the substantia nigra, and the subthalamic nucleus. Congenital malformations of the basal ganglia deriving from defects of embryogenesis are very rare. The basal ganglia embryologically derive from the prosencephalon (or forebrain), the most rostral of the three vesicles originating from early patterning of the neural tube along the anterior-posterior axis. owl:Class MPATH:89 biolink:NamedThing cardiovascular developmental defect Abnormal development of the heart or vascular tissue resulting in morphological abnormality. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0006473 biolink:NamedThing Anterior bowing of long bones An abnormal anterior curvature of a long bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850644 human_phenotype owl:Class HP:0006812 biolink:NamedThing White mater abnormalities in the posterior periventricular region tmpxe7fu0cj_hp_relaxed.owl UMLS:C1836525 ORCID:0000-0002-5316-1399 owl:Class HP:0011722 biolink:NamedThing Mixed total anomalous pulmonary venous connection Type 4 total anomalous pulmonary venous connection. tmpxe7fu0cj_hp_relaxed.owl Type 4 total anomalous pulmonary venous connection|Mixed total anomalous pulmonary venous connexion|Total anomalous pulmonary venous connection, mixed Fyler:0950|UMLS:C4021128|Fyler:950 peter 2012-04-11T08:53:37Z human_phenotype owl:Class HP:0003875 biolink:NamedThing Humeral lytic defects Destruction of an area of humerus bone due to a disease process, such as cancer. tmpxe7fu0cj_hp_relaxed.owl Lytic defects of the humerus UMLS:C4025536 Osteolytic defects can be observed by radiology studies such as an X-ray; however, the type of condition that is causing the lesion cannot be fully determined by the X-ray alone. human_phenotype owl:Class HP:0008651 biolink:NamedThing Uric acid urolithiasis independent of gout tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024647 human_phenotype owl:Class HP:0000791 biolink:NamedThing Uric acid nephrolithiasis The presence of uric acid-containing calculi (stones) in the kidneys. tmpxe7fu0cj_hp_relaxed.owl Uric acid stones|Uric acid urolithiasis SNOMEDCT_US:267441009|UMLS:C0403719 human_phenotype owl:Class HP:0033650 biolink:NamedThing Pulmonary parenchymal band A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura (which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos. tmpxe7fu0cj_hp_relaxed.owl 2021-02-24 12:54:55+00:00 See Figure 48 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0004271 biolink:NamedThing Cortical thickening of hand bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025379 human_phenotype owl:Class HP:5000032 biolink:NamedThing Anti-SEZ6L2 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2). tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-3387-1836 owl:Class HP:0410233 biolink:NamedThing Increased anti-meat allergen IgE antibody level Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken. tmpxe7fu0cj_hp_relaxed.owl 2018-10-03 22:02:09+00:00 owl:Class HP:0020215 biolink:NamedThing Thinking-induced seizure Seizures induced by thinking and decision-making. comment: tmpxe7fu0cj_hp_relaxed.owl Cognition induced seizure These have been reported occurring in response to higher nonverbal mental activity such as playing chess or card games, performing mathematical calculation, drawing complex figures, manipulating spatial information, and typing. robinp 2020-02-24 13:53:17+00:00 owl:Class HP:0030952 biolink:NamedThing Birdshot choroidal lesions Multiple cream-yellow colored hypopigmented choroidal anomalies whose size is approximately one quarter to one half of that of the optic disc, and whose location tends to cluster around the optic nerve radiating towards the periphery. The pattern of the lesions is said to be similar to gunshot spatter from birdshot. tmpxe7fu0cj_hp_relaxed.owl 2017-01-13 22:33:03+00:00 robinp owl:Class HP:0012276 biolink:NamedThing Digital flexor tenosynovitis Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit. tmpxe7fu0cj_hp_relaxed.owl Trigger finger UMLS:C4022974 Tenosynovitis refers to inflammation of the protective sheath that surrounds a tendon. Stenosing tenosynovitis, or trigger finger, is diagnosed when a patient presents with a symptomatic locking or clicking of a finger or the thumb. It is caused by a mismatch between the volume of the flexor tendon sheath and its contents. As the flexor tendon attempts to glide through a relatively stenotic sheath, it catches, producing an inability to flex or extend the digit smoothly. peter 2013-04-07T03:02:33Z human_phenotype owl:Class HP:0031309 biolink:NamedThing Cerebral artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery. tmpxe7fu0cj_hp_relaxed.owl 2017-08-26 21:34:47+00:00 peter owl:Class HP:0000465 biolink:NamedThing Webbed neck Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. tmpxe7fu0cj_hp_relaxed.owl Neck webbing|Webbed neck|Pterygium colli SNOMEDCT_US:11731003|UMLS:C0221217 human_phenotype owl:Class HP:0011207 biolink:NamedThing EEG with generalized slow activity grade 2 Generalized slowing of EEG activity at frequencies between 4-7 Hz. tmpxe7fu0cj_hp_relaxed.owl EEG with generalised slow activity grade 2 UMLS:C4023467 peter 2011-11-19T12:42:03Z human_phenotype owl:Class HP:0031727 biolink:NamedThing Excyclotropia A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other. tmpxe7fu0cj_hp_relaxed.owl 2018-01-14 15:39:16+00:00 peter owl:Class HP:0001915 biolink:NamedThing Aplastic anemia Aplastic anemia is defined as pancytopenia with a hypocellular marrow. tmpxe7fu0cj_hp_relaxed.owl Aplastic anaemia SNOMEDCT_US:306058006|MSH:D000741|SNOMEDCT_US:304132006|UMLS:C0002874 Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production. human_phenotype owl:Class HP:0025305 biolink:NamedThing Quotidian Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours). tmpxe7fu0cj_hp_relaxed.owl 2016-12-21 00:57:17+00:00 HPO:probinson owl:Class GO:0016798 biolink:NamedThing hydrolase activity, acting on glycosyl bonds Catalysis of the hydrolysis of any glycosyl bond. tmpxe7fu0cj_hp_relaxed.owl glycosidase activity|N-glycosylase|glycosylase EC:3.2.-.-|Reactome:R-HSA-1793176|Reactome:R-HSA-2065233 molecular_function owl:Class HP:0031610 biolink:NamedThing Recurrent shoulder dislocation Shoulder dislocation occurring repeated times. tmpxe7fu0cj_hp_relaxed.owl Multiple shoulder dislocation 2017-12-11 10:45:31+00:00 peter owl:Class HP:0020091 biolink:NamedThing Post-vaccination rotavirus infection Infection with live attenuated rotavirus vaccine following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 17:42:33+00:00 robinp owl:Class HP:0005411 biolink:NamedThing Chronic intestinal candidiasis Persistent overgrowth of Candida albicans in the gastrointestinal tract. tmpxe7fu0cj_hp_relaxed.owl Candida overgrowth syndrome UMLS:C4025199|UMLS:C4020823 human_phenotype owl:Class HP:0100010 biolink:NamedThing Spinal meningioma tmpxe7fu0cj_hp_relaxed.owl MSH:D008579|NCIT:C3230|SNOMEDCT_US:189167009|UMLS:C0347515 doelkens 2010-05-14T09:29:27Z human_phenotype owl:Class HP:0011906 biolink:NamedThing Reduced beta/alpha synthesis ratio A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023137 peter 2012-06-03T05:41:20Z human_phenotype owl:Class HP:0410364 biolink:NamedThing Decreased monosialylated core 1 O-glycan level An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins. tmpxe7fu0cj_hp_relaxed.owl Decreased sialyl T-antigen concentration owl:Class HP:0031465 biolink:NamedThing Abnormal vasa vasorum morphology A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 16:23:44+00:00 peter owl:Class HP:0003194 biolink:NamedThing Short nasal bridge Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. tmpxe7fu0cj_hp_relaxed.owl Decreased length of bridge of nose|Short nasal bridge|Short bridge of nose|Decreased length of nasal bridge UMLS:C1854689 owl:Class CHEBI:65256 biolink:NamedThing antimicrobial food preservative A food preservative which prevents decomposition of food by preventing the growth of fungi or bacteria. In European countries, E-numbers for permitted food preservatives are from E200 to E299, divided into sorbates (E200-209), benzoates (E210-219), sulfites (E220-229), phenols and formates (E230-239), nitrates (E240-259), acetates (E260-269), lactates (E270-279), propionates (E280-289) and others (E290-299). tmpxe7fu0cj_hp_relaxed.owl antimicrobial preservatives|antimicrobial food preservatives|antimicrobial preservative chebi_ontology owl:Class HP:0001362 biolink:NamedThing Calvarial skull defect A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. tmpxe7fu0cj_hp_relaxed.owl Cranial defect|Calvarial defect|Skull defect UMLS:C4280595|UMLS:C4025787|UMLS:C4280596 human_phenotype owl:Class HP:0004848 biolink:NamedThing Ph-positive acute lymphoblastic leukemia A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity. tmpxe7fu0cj_hp_relaxed.owl Philadelphia-positive acute lymphoblastic leukemia|Philadelphia-positive acute lymphoblastic leukaemia|Ph-positive acute lymphoblastic leukaemia SNOMEDCT_US:426955004|UMLS:C1960397|SNOMEDCT_US:425688002 human_phenotype owl:Class HP:0006637 biolink:NamedThing Sternal punctate calcifications tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859121 human_phenotype owl:Class HP:0001820 biolink:NamedThing Leukonychia White discoloration of the nails. tmpxe7fu0cj_hp_relaxed.owl White discoloration of nails SNOMEDCT_US:111202002|MEDDRA:10050658|UMLS:C0240182 human_phenotype owl:Class HP:0025144 biolink:NamedThing Shivering Involuntary contraction or twitching of the muscles. tmpxe7fu0cj_hp_relaxed.owl Shuddering|Shivering 2016-11-29 11:13:35+00:00 Shivering is a physiologic method of heat production in man and other mammals. Shivering is a bodily function in response to fever, early hypothermia or feeling cold. HPO:probinson owl:Class HP:0030303 biolink:NamedThing Hypoplastic anterior commissure Underdevelopment of the anterior commissure. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022524 owl:Class HP:0008437 biolink:NamedThing Bifid thoracic vertebrae tmpxe7fu0cj_hp_relaxed.owl UMLS:C2751478 human_phenotype owl:Class HP:0100536 biolink:NamedThing Abnormality of the fascia An abnormality of fascia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022028 doelkens 2010-12-20T05:58:56Z human_phenotype owl:Class HP:0012869 biolink:NamedThing Acephalic spermatozoa Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022698 hecht 2014-06-09T10:57:11Z human_phenotype owl:Class HP:0012609 biolink:NamedThing Hypomagnesiuria An decreased concentration of magnesium the urine. tmpxe7fu0cj_hp_relaxed.owl Low urine magnesium levels|Decreased urine magnesium UMLS:C3203528 peter 2014-01-17T11:39:31Z human_phenotype owl:Class HP:0004463 biolink:NamedThing Absent brainstem auditory responses Lack of measurable response to stimulation of auditory evoked potentials. tmpxe7fu0cj_hp_relaxed.owl No auditory brainstem response UMLS:C1836742 human_phenotype owl:Class HP:0032569 biolink:NamedThing Temporal bossing Prominence (bulging) in the temple region, which is the part of the skull where the frontal, parietal, temporal, and sphenoid bones join on the side of the head. tmpxe7fu0cj_hp_relaxed.owl 2019-06-19 10:48:04+00:00 peter owl:Class HP:0040157 biolink:NamedThing Abnormal intermamillary distance tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022412 HPO:skoehler owl:Class HP:0000839 biolink:NamedThing Pituitary dwarfism A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:367460001|SNOMEDCT_US:7530009|MSH:D004393|UMLS:C0013338 owl:Class HP:0008822 biolink:NamedThing Hypoplastic ischiopubic rami Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024617 human_phenotype owl:Class HP:0001951 biolink:NamedThing Episodic ammonia intoxication tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839541 human_phenotype owl:Class HP:0000879 biolink:NamedThing Short sternum Decreased inferosuperior length of the sternum. tmpxe7fu0cj_hp_relaxed.owl Short sternum|Hypoplastic sternum UMLS:C4020883|SNOMEDCT_US:298724002|UMLS:C0575497 human_phenotype owl:Class HP:0005183 biolink:NamedThing Pericardial lymphangiectasia An abnormal dilatation of lymph vessels in the pericardium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856140 owl:Class HP:0003144 biolink:NamedThing Increased serum serotonin A increased concentration of serotonin in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased serum serotonin UMLS:C0877243 human_phenotype owl:Class HP:0032104 biolink:NamedThing Saccadic oscillation An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade. tmpxe7fu0cj_hp_relaxed.owl Saccadic oscillations 2018-11-04 23:03:21+00:00 peter owl:Class HP:0003079 biolink:NamedThing Defective DNA repair after ultraviolet radiation damage tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968564 human_phenotype owl:Class HP:0025566 biolink:NamedThing Anterior chamber cells grade 4+ Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. tmpxe7fu0cj_hp_relaxed.owl 2017-12-14 13:24:54+00:00 HPO:probinson owl:Class HP:0032317 biolink:NamedThing Family history of cancer A close blood relative had cancer. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 11:43:34+00:00 peter owl:Class HP:0004571 biolink:NamedThing Widening of cervical spinal canal tmpxe7fu0cj_hp_relaxed.owl UMLS:C3807591 human_phenotype owl:Class HP:0011543 biolink:NamedThing Superior-inferior ventricles without criss-cross atrioventricular valves tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023308|Fyler:0184|Fyler:184 peter 2012-04-07T10:56:21Z human_phenotype owl:Class HP:0033785 biolink:NamedThing Enamel agenesis Complete or almost complete absence of enamel. tmpxe7fu0cj_hp_relaxed.owl 2021-05-07 10:59:43+00:00 Enamel agenesis can indicate a total absence of enamel or the presence of a very thin enamel layer that is difficult to visualize during clinical examination. It may need microscopic studies to determine whether any enamel is still present. It can be present isolated and as part of rare syndromic entities. peter owl:Class HP:0025077 biolink:NamedThing Decreased QRS voltage Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm. tmpxe7fu0cj_hp_relaxed.owl 2016-09-26 10:50:45+00:00 HPO:probinson owl:Class HP:0011827 biolink:NamedThing Malaligned philtral ridges Absence of the usual parallel position of philtral ridges. tmpxe7fu0cj_hp_relaxed.owl Asymmetric philtral ridges|Malaligned philtral columns|Asymmetric philtral columns|Philtral Ridges, Malaligned UMLS:C4021117 Hajnis [1972] has described downwards convergent, downwards divergent (trapezoid or triangular), convex (ovoid), and concave philtral configurations. Any of these findings may be coded using this term. peter 2012-05-01T10:35:32Z human_phenotype owl:Class HP:0500065 biolink:NamedThing Retinopathy of prematurity prethreshold High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both. tmpxe7fu0cj_hp_relaxed.owl ROP prethreshold 2018-02-19 20:26:57+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0012828 biolink:NamedThing Severe Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. tmpxe7fu0cj_hp_relaxed.owl Severe UMLS:C0205082|SNOMEDCT_US:24484000 PATO:0000396, severe. peter 2014-06-06T07:03:17Z human_phenotype owl:Class HP:0006638 biolink:NamedThing Midclavicular aplasia Developmental defect resulting in congenital absence of the middle portion of the clavicle. tmpxe7fu0cj_hp_relaxed.owl Missing middle part of collarbone UMLS:C1844529 human_phenotype owl:Class HP:0012236 biolink:NamedThing Elevated sweat chloride An increased concentration of chloride in the sweat. tmpxe7fu0cj_hp_relaxed.owl Elevated sweat chloride|Elevated sweat Cl-|Elevated sweat Cl UMLS:C1856646 Sweat chloride is notably increased in cystic fibrosis, but also in some other diseases. peter 2013-03-31T09:50:28Z human_phenotype owl:Class UBERON:0014881 biolink:NamedThing distal epiphysis of distal phalanx of manual digit 1 A distal epiphysis that is part of a distal phalanx of manual digit 1. tmpxe7fu0cj_hp_relaxed.owl distal epiphysis of distal phalanx of manual digit I|head of distal phalanx of first digit of hand|distal end of phalanx of right thumb|ungual tuberosity of distal phalanx of thumb|distal epiphysis of distal phalanx of thumb|head of distal phalanx of thumb FMA:37609 uberon owl:Class HP:0010802 biolink:NamedThing Perioral hyperpigmentation Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips. tmpxe7fu0cj_hp_relaxed.owl Increased pigmentation around the mouth|Darkening of skin around the mouth UMLS:C4023699 Periorbital hyperpigmentation may be accompanied by Lip freckles, but this should be assessed separately. peter 2010-06-26T02:22:18Z human_phenotype owl:Class HP:0006160 biolink:NamedThing Irregular metacarpals Irregular morphology of one or more metacarpal bones. tmpxe7fu0cj_hp_relaxed.owl Irregular long bones of hand UMLS:C4025086 human_phenotype owl:Class HP:0030296 biolink:NamedThing Metaphyseal chondromatosis of radius tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022529 owl:Class HP:0007434 biolink:NamedThing Plaque-like facial hemangioma Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology. tmpxe7fu0cj_hp_relaxed.owl Hemangioma, facial, plaque-like UMLS:C1847884 human_phenotype owl:Class HP:0030801 biolink:NamedThing Reduced visual accommodation A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280759 owl:Class HP:0003729 biolink:NamedThing Enteroviral dermatomyositis syndrome tmpxe7fu0cj_hp_relaxed.owl UMLS:C3806660 human_phenotype owl:Class HP:0010340 biolink:NamedThing Polydactyly affecting the 4th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023894 doelkens 2009-07-16T11:41:21Z human_phenotype owl:Class MAXO:0001171 biolink:NamedThing testicular ultrasonography The use of ultrasound to produce images of structures in the testis. tmpxe7fu0cj_hp_relaxed.owl testis sonography|sonography of testis|testis ultrasound procedure|testis diagnostic sonography|testis ultrasound imaging procedure|testis ultrasound examination|ultrasonography of testis|testis medical ultrasound 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-3010 owl:Class HP:0030566 biolink:NamedThing Best corrected visual acuity 1.3 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073039 owl:Class HP:0033112 biolink:NamedThing Elevated circulating apolipoprotein C-III concentration An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. tmpxe7fu0cj_hp_relaxed.owl Elevated apolipoprotein C-III level|Elevated APOC3 level 2020-08-30 11:30:35+00:00 peter owl:Class HP:0030730 biolink:NamedThing Parietal meningocele A herniation of meninges through a congenital bone defect in the skull in the parietal region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280797 owl:Class PATO:0000665 biolink:NamedThing high brightness A color brightness which is relatively high. tmpxe7fu0cj_hp_relaxed.owl light quality owl:Class HP:0012148 biolink:NamedThing Multiple lineage myelodysplasia Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023021 peter 2012-09-16T08:33:33Z human_phenotype owl:Class HP:0030915 biolink:NamedThing Cerebellar edema Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum. tmpxe7fu0cj_hp_relaxed.owl Edema of the cerebellum|Oedema of the cerebellum|Cerebellar oedema Cerebellar edama can manifest on magnetic resonance imaging as hyperintense T2 and FLAIR signals, which do not show restricted diffusion. HPO:probinson owl:Class HP:0003391 biolink:NamedThing Gowers sign A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. tmpxe7fu0cj_hp_relaxed.owl Positive Gower sign|Positive Gowers sign|Gower sign SNOMEDCT_US:85905009|UMLS:C0575071|UMLS:C0234182|SNOMEDCT_US:298294005 human_phenotype owl:Class HP:0032185 biolink:NamedThing Disseminated molluscum contagiosum The presense of molluscum contagiosum lesions across multiple areas of the body. tmpxe7fu0cj_hp_relaxed.owl 2019-01-12 14:58:01+00:00 Molluscum contagiosum (MC) are very common cutaneous warts caused by molluscum contagiosum virus (MCV), a double-stranded DNA virus of the poxvirus family. The typical clinical presentation consists of small, umbilicated, skin-coloured, pearly papules with predilection of the trunk, axillae, antecubital and popliteal fossae and genital area. Incidence first peaks in pre-school children. In immunocompetent individuals, lesions usually clear spontaneously within several months or years. peter owl:Class GO:0030258 biolink:NamedThing lipid modification The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0410256 biolink:NamedThing Infection associated neutropenia Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan. tmpxe7fu0cj_hp_relaxed.owl 2018-10-19 19:13:46+00:00 owl:Class HP:0011924 biolink:NamedThing Decreased activity of mitochondrial complex III A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria. tmpxe7fu0cj_hp_relaxed.owl Respiratory complex III deficiency UMLS:C3149083|UMLS:C4020738 peter 2012-06-08T09:04:26Z human_phenotype owl:Class HP:0410325 biolink:NamedThing House dust mite allergy Hypersensitivity in form of an adverse immune reaction against house dust mites. tmpxe7fu0cj_hp_relaxed.owl Immunoglobulin E-mediated house dust mite allergy|Allergy to house dust mites|IgE-mediated house dust mite allergy|House dust mite allergy owl:Class HP:0003623 biolink:NamedThing Neonatal onset Onset of signs or symptoms of disease within the first 28 days of life. tmpxe7fu0cj_hp_relaxed.owl Onset in neonatal period|Neonatal onset|Onset in first weeks of life UMLS:C1855106 HP:0003622 human_phenotype owl:Class HP:0005261 biolink:NamedThing Joint hemorrhage Hemorrhage occurring within a joint. tmpxe7fu0cj_hp_relaxed.owl Bleeding within a joint|Hemarthrosis|Spontaneous joint hemorrhage|Hemarthroses|Joint haemorrhage|Spontaneous joint haemorrhage UMLS:C0018924|SNOMEDCT_US:81808003|MSH:D006395 peter 2008-03-26T04:27:00Z HP:0005196|HP:0001391 human_phenotype owl:Class HP:0012749 biolink:NamedThing Focal T2 hypointense brainstem lesion A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022747 peter 2014-03-30T06:43:56Z human_phenotype owl:Class CHEBI:33729 biolink:NamedThing tetritol tmpxe7fu0cj_hp_relaxed.owl tetritol|tetritols chebi_ontology owl:Class HP:0031119 biolink:NamedThing Bicuspid aortic valve with right-left cusp fusion A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 11:48:42+00:00 peter owl:Class HP:0011548 biolink:NamedThing Absent right sided atrioventricular connection A defect where there is no connection between the right atrium and right ventricle. tmpxe7fu0cj_hp_relaxed.owl Absent right sided atrioventricular connexion UMLS:C0344624|SNOMEDCT_US:253285007 peter 2012-04-07T11:30:44Z human_phenotype owl:Class HP:0007815 biolink:NamedThing Abnormal distribution of retinal arterioles and venules tmpxe7fu0cj_hp_relaxed.owl UMLS:C3277463 human_phenotype owl:Class HP:0002526 biolink:NamedThing Deficit in nonword repetition Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025702 owl:Class HP:0005682 biolink:NamedThing Talocalcaneal synostosis tmpxe7fu0cj_hp_relaxed.owl Fusion of foot joint|Fusion of the subtalar joint UMLS:C4025155|UMLS:C4255214 human_phenotype owl:Class HP:0011261 biolink:NamedThing Darwin tubercle of helix Small expansion of the helical fold at the junction of the superior and descending portions of the helix. tmpxe7fu0cj_hp_relaxed.owl Helix, Darwin tubercle UMLS:C4021179 peter 2011-12-18T06:02:42Z human_phenotype owl:Class HP:0033583 biolink:NamedThing Follicular bronchiolitis Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways. tmpxe7fu0cj_hp_relaxed.owl 2021-01-27 20:37:56+00:00 Lymphocytic interstitial pneumonia (LIP) and follicular bronchiolitis (FB) are assumed to be pathological immunologic responses to different triggers and are particularly associated with autoimmune and infectious diseases as well as immunodeficiency. LIP can be defined as a dense, predominantly lymphocytic interstitial infiltrate that expands alveolar septa. In contrast, FB can be defined as a pattern of numerous lymphoid follicles associated with bronchioles and the immediate peribronchiolar interstitium. A grading system can be use to assess presence and extent of LIP and FB. Lymphocyte aggregates are defined as the aggregation of 50 or more lymphocytes per high-power field. Tissue was scored as grade 0 in the absence of lymphocyte aggregates, grade 1 with 0 to 1 aggregate/10 mm 2 , grade 2 with greater than 1 aggregate/10 mm 2 , grade 3 with greater than 1 aggregate/10 mm 2 and the presence of focal lymphoid interstitial pneumonia, and grade 4 with greater than 1 aggregate/10 mm 2 and the presence of diffuse LIP. peter owl:Class HP:0030762 biolink:NamedThing Mesangiolysis Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4054531 Dissolution or attenuation of mesangial matrix and degeneration of mesangial cells. In essence, mesangiolysis is an injurious process which affects the glomerular mesangium without causing obvious damage to the capillary basement membranes. The matrix swells, loosens, and eventually dissolves; the mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis. owl:Class HP:0100204 biolink:NamedThing Cone-shaped epiphysis of the distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Cone-shaped end part of the outermost bone of the little toe|Cone-shaped end part of the outermost bone of the pinky toe|Cone-shaped end part of the outermost bone of the pinkie toe UMLS:C4022217 doelkens 2010-06-24T05:03:31Z human_phenotype owl:Class HP:0030567 biolink:NamedThing Best corrected visual acuity 2.0 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073040 owl:Class HP:0012482 biolink:NamedThing Frontal venous angioma A venous angioma of the frontal lobe of the brain. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022887 peter 2013-11-28T08:12:07Z human_phenotype owl:Class HP:0032144 biolink:NamedThing Coffee ground vomitus Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit. tmpxe7fu0cj_hp_relaxed.owl Coffee grounds emesis|Coffee grounds vomiting 2018-11-22 15:39:44+00:00 peter owl:Class PATO:0000617 biolink:NamedThing bent A shape quality inhering in a bearer by virtue of the bearer's having one or more angle(s) in its length. tmpxe7fu0cj_hp_relaxed.owl flexed|angled quality owl:Class UBERON:0006668 biolink:NamedThing carotid canal On the interior surface of the temporal bone, behind the rough surface of the apex, is the large circular aperture of the carotid canal, which ascends at first vertically, and then, making a bend, runs horizontally forward and medialward. It transmits into the cranium, the internal carotid artery, and the carotid plexus of nerves. Sympathetics to the head also pass through the carotid canal. They have several motor functions: raise the eyelid (superior tarsal muscle), dilate pupil, innervate sweat glands of face and scalp and constricts blood vessels in head[WP]. tmpxe7fu0cj_hp_relaxed.owl canalis caroticus EMAPA:18707|FMA:55805|Wikipedia:Carotid_canal http://upload.wikimedia.org/wikipedia/commons/4/4c/Gray141.png uberon owl:Class HP:0003574 biolink:NamedThing Positive regitine blocking test A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025594 Regitine produces an alpha-adrenergic block of relatively short duration. In the regitine blocking test, regitine is injected rapidly and bood pressure is recorded immediately after injection, at 30-second intervals for the first 3 minutes, and at 60-second intervals for the next 7 minutes. A positive response to the reginitine blocking test is present when the blood pressure is reduced more than 35 mmHg systolic and 25 mmHg diastolic. A typical positive response is a reduction in pressure of 60 mmHg systolic and 25 mmHg diastolic. A positive response is suggestive of pheochromocytoma and should generally be confirmed by other diagnostic procedures such as measurement of urinary catecholamines or their metabolites. human_phenotype owl:Class HP:0011214 biolink:NamedThing EEG with photoparoxysmal response grade IV Occurrence of generalized epileptiform discharges during photic stimulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023461 peter 2011-11-19T01:01:38Z human_phenotype owl:Class HP:0006326 biolink:NamedThing Buried teeth encased in mucopolysaccharide tmpxe7fu0cj_hp_relaxed.owl Unerupted teeth due to mucopolysaccharidoses|Failure of tooth eruption due to mucopolysaccharidoses|Unerupted dentition due to mucopolysaccharidoses|Failure of dental eruption due to mucopolysaccharidoses|Impacted teeth due to mucopolysaccharidoses UMLS:C4025064 human_phenotype owl:Class UBERON:0035020 biolink:NamedThing left vagus X nerve trunk tmpxe7fu0cj_hp_relaxed.owl trunk of left vagus|left vagus neural trunk|anterior vagus X nerve trunk FMA:18157|MA:0001151|EMAPA:37798 uberon owl:Class PATO:0001876 biolink:NamedThing dumbbell-shaped A concave 3-D shape quality inhering in a bearer by virtue of the bearer's having two parts, roughly spherical and of equal size, connected by a bar. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0009892 biolink:NamedThing Anotia Complete absence of any auricular structures. tmpxe7fu0cj_hp_relaxed.owl Congenital absence of external ear|Absent ear|Absent ears UMLS:C1408788|MSH:D065817|UMLS:C0702139|SNOMEDCT_US:57436000 Complete absence of the auricle (external ear). The skin of the cheek passes smoothly over the aural area without definite elevation or depression. peter 2009-04-30T06:53:41Z human_phenotype owl:Class HP:0041085 biolink:NamedThing Compression-fractured vertebra A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. tmpxe7fu0cj_hp_relaxed.owl Wedge fractured vertebra|Compression fractured vertebra owl:Class HP:0003566 biolink:NamedThing Increased serum prostaglandin E2 An increased concentration of prostaglandin E2 in the blood. tmpxe7fu0cj_hp_relaxed.owl Elevated prostaglandin E2 UMLS:C3150358 HP:0008298 human_phenotype owl:Class HP:0003150 biolink:NamedThing Glutaric aciduria An increased concentration of glutaric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased glutarate level in urine|Glutaricaciduria|Glutarate aciduria SNOMEDCT_US:28987007|UMLS:C0268594 HP:0003490 human_phenotype owl:Class CHEBI:33248 biolink:NamedThing hydrocarbyl group A univalent group formed by removing a hydrogen atom from a hydrocarbon. tmpxe7fu0cj_hp_relaxed.owl grupos hidrocarbilo|groupe hydrocarbyle|hydrocarbyl groups|grupo hidrocarbilo|hydrocarbyl group chebi_ontology owl:Class HP:0005230 biolink:NamedThing Biliary tract obstruction Obstruction affecting the biliary tree. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0400979|SNOMEDCT_US:235918000 human_phenotype owl:Class HP:0008167 biolink:NamedThing Very long chain fatty acid accumulation tmpxe7fu0cj_hp_relaxed.owl UMLS:C3279397 human_phenotype owl:Class UBERON:0010894 biolink:NamedThing keratinous tooth tmpxe7fu0cj_hp_relaxed.owl horny denticle The hagfish's jawless mouth contains two parallel rows of pointed keratinous teeth uberon owl:Class HP:0011299 biolink:NamedThing Partial absence of finger The absence of a phalangeal segment of a finger. tmpxe7fu0cj_hp_relaxed.owl Partial absence of finger UMLS:C4023423 The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present and/or the radiographic finding of a remaining phalanx that is similar to a distal phalanx. It may be difficult to determine which phalanx is absent without x-rays and even then, there are circumstances where the missing bone may not be exactly identified (note that no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective will have to be removed. This finding is distinct from Short fingers. hecht 2012-02-11T10:57:07Z human_phenotype owl:Class UBERON:0013687 biolink:NamedThing pericranium Periosteum that is part of a skull. tmpxe7fu0cj_hp_relaxed.owl periosteum externum cranii FMA:76623 uberon owl:Class HP:0033611 biolink:NamedThing Part-solid pulmonary nodule Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 22:22:54+00:00 peter owl:Class HP:0003073 biolink:NamedThing Hypoalbuminemia Reduction in the concentration of albumin in the blood. tmpxe7fu0cj_hp_relaxed.owl Hypoalbuminaemia|Low albumin|Low blood albumin MSH:D034141|SNOMEDCT_US:119247004|UMLS:C0239981 human_phenotype owl:Class HP:0025259 biolink:NamedThing Stiff elbow A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity. tmpxe7fu0cj_hp_relaxed.owl Elbow stiffness|Stiff elbow 2016-12-18 01:11:24+00:00 HPO:probinson owl:Class HP:0003833 biolink:NamedThing Laterally deficient tibial plateaux tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025563 human_phenotype owl:Class HP:0006217 biolink:NamedThing Limited mobility of proximal interphalangeal joint tmpxe7fu0cj_hp_relaxed.owl Limited mobility of innermost hinge joint UMLS:C1857288 human_phenotype owl:Class HP:0011239 biolink:NamedThing Underdeveloped inferior crus of antihelix Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem. tmpxe7fu0cj_hp_relaxed.owl Antihelix, inferior crus, underdeveloped|Hypotrophic inferior crus of antihelix|Hypoplastic inferior crus of antihelix UMLS:C4021194 This finding is highly variable. peter 2011-12-18T11:27:15Z human_phenotype owl:Class HP:0033626 biolink:NamedThing Increased non-HDL cholesterol concentration Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol). tmpxe7fu0cj_hp_relaxed.owl Elevated non-HDL cholesterol concentration 2021-01-30 23:17:23+00:00 peter owl:Class HP:0033858 biolink:NamedThing Organized thrombi within interlobular vein lumen Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-02 19:07:57+00:00 peter owl:Class HP:0006315 biolink:NamedThing Solitary median maxillary central incisor A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors. tmpxe7fu0cj_hp_relaxed.owl Only one upper front tooth|Single central upper incisor|Solitary midline maxillary central incisor|Single maxillary central incisor|Solitary median maxillary central incisor syndrome|Single central incisor|Single midline upper front tooth|Single median maxillary incisor|Single median maxillary central incisor|Single median incisor|Single midline maxillary incisor|Solitary median maxillary central incisor UMLS:C1840235|MSH:C537342|SNOMEDCT_US:707609006 The tooth differs from a normal central incisor in the symmetric formation of the crown. The tooth is present in both deciduous and permanent dentition. Solitary/single median maxillary central incisor syndrome indicates the presence of a single median maxillary central incisor together with other midline defects of development. A single maxillary central incisor not positioned in the midline indicates agenesis of the contralateral central incisor and A single maxillary central incisor positioned in the midline with mor- can be differentiated furthermore by the morphology of the crown. A diagnosis of a solitary median maxillary central incisor typically requires X-rays examinations. HP:0001568|HP:0001573|HP:0006356 owl:Class HP:0001312 biolink:NamedThing Giant somatosensory evoked potentials An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials. tmpxe7fu0cj_hp_relaxed.owl Giant SEPS UMLS:C3806961 human_phenotype owl:Class UBERON:0002504 biolink:NamedThing lesser trochanter The lesser trochanter (small trochanter) of the femur is a conical eminence, which varies in size in different subjects [WP,unvetted]. tmpxe7fu0cj_hp_relaxed.owl lesser trochanter of femur|trochanter minor UMLS:C0223866|FMA:32853|EMAPA:37595|galen:LesserTrochanter|MA:0002823|NCIT:C32982 http://upload.wikimedia.org/wikipedia/commons/8/8b/Gray341.png uberon owl:Class HP:0000151 biolink:NamedThing Aplasia of the uterus Aplasia of the uterus. tmpxe7fu0cj_hp_relaxed.owl uterus absent|Absent uterus UMLS:C0425913|SNOMEDCT_US:248942000 human_phenotype owl:Class HP:0002102 biolink:NamedThing Pleuritis Inflammation of the pleura. tmpxe7fu0cj_hp_relaxed.owl Inflammation of tissues lining lungs and chest|Pleurisy UMLS:C0032231|MSH:D010998|SNOMEDCT_US:196075003 human_phenotype owl:Class UBERON:0011980 biolink:NamedThing crurotarsal joint A joint that connects the bones of the crus to the proximal tarsal bones. tmpxe7fu0cj_hp_relaxed.owl crurotarsal line of flexion between calcaneus and astragalus uberon owl:Class an ankle joint that passes between the astragalus and calcaneum[Palaeos]. HP:0008193 biolink:NamedThing Primary gonadal insufficiency tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859014 owl:Class HP:0033681 biolink:NamedThing Oligodendroglioma Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG. tmpxe7fu0cj_hp_relaxed.owl 2021-03-06 13:09:34+00:00 NCIT:C3288 peter owl:Class HP:0004924 biolink:NamedThing Abnormal oral glucose tolerance An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose. tmpxe7fu0cj_hp_relaxed.owl Abnormal glucose oral tolerance test UMLS:C1847425 human_phenotype owl:Class HP:0030634 biolink:NamedThing Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073104 owl:Class HP:0007272 biolink:NamedThing Progressive psychomotor deterioration tmpxe7fu0cj_hp_relaxed.owl Progressive mental and motor deterioration UMLS:C1856565 HP:0006856 owl:Class HP:0012537 biolink:NamedThing Food intolerance A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction. tmpxe7fu0cj_hp_relaxed.owl Non-allergic food hypersensitivity|Food intolerance UMLS:C0149696|SNOMEDCT_US:235719002 peter 2013-12-15T10:25:19Z human_phenotype owl:Class HP:0007058 biolink:NamedThing Generalized cerebral atrophy/hypoplasia Generalized atrophy or hypoplasia of the cerebrum. tmpxe7fu0cj_hp_relaxed.owl Generalised cerebral degeneration/underdevelopment|Generalized cerebral degeneration/underdevelopment|Generalised cerebral atrophy/hypoplasia UMLS:C4024945 human_phenotype owl:Class UBERON:0005011 biolink:NamedThing mucosa of right uterine tube A mucosa that is part of a right uterine tube [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl mucosa of organ of right uterine tube|right fallopian tube mucosa of organ|organ mucosa of right oviduct|right fallopian tube mucous membrane|mucosa of organ of right oviduct|right uterine tube mucous membrane|mucosa of right oviduct|right oviduct organ mucosa|right uterine tube mucosa of organ|organ mucosa of right fallopian tube|right oviduct mucosa|mucous membrane of right oviduct|organ mucosa of right uterine tube|right oviduct mucous membrane|right fallopian tube mucosa|mucous membrane of right uterine tube|mucosa of organ of right fallopian tube|right uterine tube organ mucosa|right fallopian tube organ mucosa|mucosa of right fallopian tube|mucous membrane of right fallopian tube|right oviduct mucosa of organ|right uterine tube mucosa FMA:18452 uberon owl:Class HP:0033470 biolink:NamedThing 10-minute APGAR score of 2 tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:45:32+00:00 peter owl:Class HP:0004906 biolink:NamedThing Hypernatremic dehydration tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:427784006|UMLS:C1850544 human_phenotype owl:Class CHEBI:21663 biolink:NamedThing N-acylneuraminates tmpxe7fu0cj_hp_relaxed.owl N-acylneuraminate chebi_ontology owl:Class HP:0034087 biolink:NamedThing Anti-U11/U12 RNP antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 02:36:40+00:00 peter owl:Class HP:0033871 biolink:NamedThing Medullary peritubular capillary lumen organized thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney. tmpxe7fu0cj_hp_relaxed.owl Organized thrombi within the medullary peritubular capillary lumen 2021-06-23 19:17:24+00:00 peter owl:Class HP:0031790 biolink:NamedThing Mixed astigmatism A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted). tmpxe7fu0cj_hp_relaxed.owl 2018-01-28 13:37:32+00:00 peter owl:Class HP:0006687 biolink:NamedThing Aortic tortuosity Abnormal tortuous (i.e., twisted) form of the aorta. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025003 human_phenotype owl:Class MAXO:0000797 biolink:NamedThing fetal Doppler monitoring A technique that utilizes a Doppler transducer to monitor fetal heart rate. The transducer is placed on the maternal abdomen and detects fetal cardiac motion using ultrasound. tmpxe7fu0cj_hp_relaxed.owl external fetal heart rate monitoring|fetal Doppler ultrasound monitoring|EFM 2021-02-10 19:40:07+00:00 NCIT:C114081 owl:Class HP:0030849 biolink:NamedThing Hepatojugular reflux The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0239949|SNOMEDCT_US:72196001 owl:Class HP:0041228 biolink:NamedThing Fractured distal tarsal bone 3 A partial or complete breakage of the distal tarsal bone 3. tmpxe7fu0cj_hp_relaxed.owl bone distal tarsal bone 3 owl:Class HP:0007239 biolink:NamedThing Congenital encephalopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024917 human_phenotype owl:Class HP:0100042 biolink:NamedThing Broad 4th toe A broad appearance of the fourth toe. tmpxe7fu0cj_hp_relaxed.owl Wide 4th toe|Broad 4th toe UMLS:C4022379 doelkens 2010-06-24T09:55:43Z human_phenotype owl:Class HP:0100910 biolink:NamedThing Sclerosis of the proximal phalanx of the 4th finger tmpxe7fu0cj_hp_relaxed.owl Increased bone density in the innermost bone of the ring finger UMLS:C4021932 human_phenotype owl:Class HP:0200108 biolink:NamedThing Shortened outer dynein arms tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021889 sebastiankohler 2013-06-05T12:15:10Z human_phenotype owl:Class HP:0410368 biolink:NamedThing Increased globoside Gb3 level An abnormal increase in the concentration of glycolipid globoside Gb3. tmpxe7fu0cj_hp_relaxed.owl Increased globoside Gb3 concentration owl:Class HP:0011150 biolink:NamedThing Myoclonic absence seizure Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. tmpxe7fu0cj_hp_relaxed.owl Myoclonic absence|Myoclonic absences UMLS:C4023512 peter 2011-10-18T02:04:35Z human_phenotype owl:Class HP:0011284 biolink:NamedThing Short-segment aganglionic megacolon A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023431 peter 2012-01-01T02:59:57Z human_phenotype owl:Class HP:0030667 biolink:NamedThing Peripheral retinal neovascularization A type of retinal neovascularization that affects the periphery of the retina. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:247100001|UMLS:C0474355 HPO:probinson owl:Class HP:0030666 biolink:NamedThing Retinal neovascularization In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment. tmpxe7fu0cj_hp_relaxed.owl Retinal neovascularisation UMLS:C0035320|MSH:D015861|SNOMEDCT_US:61267008 When traction retinal detachment involves the macula, which is responsible for reading and driving vision, severe visual loss occurs. HPO:probinson owl:Class HP:0002587 biolink:NamedThing Projectile vomiting Vomiting that ejects the gastric contents with great force. tmpxe7fu0cj_hp_relaxed.owl Projectile vomiting SNOMEDCT_US:8579004|UMLS:C0221151 human_phenotype owl:Class PATO:0000623 biolink:NamedThing exserted A quality inhering in a bearer by virtue of the bearer's protruding or projecting from the body. tmpxe7fu0cj_hp_relaxed.owl prolapsed|prolapse quality owl:Class HP:0000727 biolink:NamedThing Frontal lobe dementia tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:278857002|UMLS:C0338455 owl:Class HP:0005871 biolink:NamedThing Metaphyseal chondrodysplasia An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:28681006|UMLS:C0265290 The term metaphyseal chondrodysplasia is usually used to describe a disease but is often also used to describe the corresponding phenotypic appearance. This use is retained in the HPO for convenience, but if possible a precise phenotypic description is preferred. HP:0006377 human_phenotype owl:Class HP:0011672 biolink:NamedThing Cardiac myxoma A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber. tmpxe7fu0cj_hp_relaxed.owl NCIT:C6577|UMLS:C1960546|SNOMEDCT_US:426191007 peter 2012-04-09T12:10:35Z owl:Class HP:0200059 biolink:NamedThing Metastatic angiosarcoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C0854892 sebastiankohler human_phenotype owl:Class HP:0200058 biolink:NamedThing Angiosarcoma tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:39000009|MSH:D006394|SNOMEDCT_US:403977003|UMLS:C0018923|SNOMEDCT_US:33176006 sebastiankohler human_phenotype owl:Class HP:0032849 biolink:NamedThing Aphasic status epilepticus Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0008035 biolink:NamedThing Retinitis pigmentosa inversa Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery). tmpxe7fu0cj_hp_relaxed.owl Central retinitis pigmentosa UMLS:C4021559 HP:0008506 human_phenotype owl:Class NBO:0000015 biolink:NamedThing aggressive behavior "A behavioral interaction between organisms in which one organism has the intention of inflicting damage on another individual using physical or verbal means." [wikipedia:Aggression] GO:0002118 tmpxe7fu0cj_hp_relaxed.owl agonism|aggression|aggressive behaviour 2011-04-14T01:03:39Z George Gkoutos behavior_ontology owl:Class HP:0500222 biolink:NamedThing Increased CSF tryptophan concentration Abnormally increased levels of tryptophan in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High tryptophan levels in cerebrospinal fluid 2019-02-25 20:07:30+00:00 owl:Class HP:0032769 biolink:NamedThing Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class PATO:0001736 biolink:NamedThing solid configuration A physical quality inhering in a bearer by virtue of the bearer's parts having the arrangement which exhibits characteristics of solids. tmpxe7fu0cj_hp_relaxed.owl solid quality owl:Class HP:0031233 biolink:NamedThing Horizontal inferior border of scapula A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape). tmpxe7fu0cj_hp_relaxed.owl Squaring of the scapula|Squaring of the inferior scapulae 2017-07-02 13:23:17+00:00 peter owl:Class HP:0007002 biolink:NamedThing Motor axonal neuropathy Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. tmpxe7fu0cj_hp_relaxed.owl Distal motor neuropathy|Length dependent motor neuropathy UMLS:C4020811|UMLS:C1854570|UMLS:C2749625 Distal motor neuropathy is a bundled term that should not be used if more detailed information about the phenotype is available. HP:0007349 human_phenotype owl:Class HP:0030503 biolink:NamedThing Macular telangiectasia tmpxe7fu0cj_hp_relaxed.owl Parafoveal telangiectasia|Juxtafoveal telangiectasia SNOMEDCT_US:232024000|UMLS:C0339480 owl:Class HP:0032069 biolink:NamedThing Anti-thyroglobulin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. tmpxe7fu0cj_hp_relaxed.owl 2018-09-30 14:43:28+00:00 The autoimmune thyroid diseases (AITD), Graves' disease (GD) and Hashimoto's thyroiditis (HT) are most common endocrine disorders in humans. Both disorders are characterized by lymphocytic infiltration of the thyroid gland and the production of autoantibodies (aAb) against proteins that are thyroid-specific or expressed predominantly in the thyroid. The three main autoantigens are thyroperoxidase (TPO), thyroglobulin (Tg), and thyrotropin hormone receptor. peter owl:Class HP:0100616 biolink:NamedThing Testicular teratoma The presence of a teratoma of the testis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0238451|NCIT:C3403|MSH:C562472 An encapsulated tumor of the testis with tissue or organ components resembling normal derivatives of all three germ layers. doelkens 2010-12-28T11:42:18Z human_phenotype owl:Class HP:0010147 biolink:NamedThing Stippling of the epiphysis of the distal phalanx of the hallux The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux. tmpxe7fu0cj_hp_relaxed.owl Speckled calcifications in the end part of the outermost bone of the big toe UMLS:C4024012 doelkens 2009-05-29T01:22:47Z human_phenotype owl:Class HP:0003240 biolink:NamedThing Increased phosphoribosylpyrophosphate synthetase level Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. tmpxe7fu0cj_hp_relaxed.owl Increased phosphoribosyl pyrophosphate synthetase activity|Increased PRPS1 activity UMLS:C4025637 human_phenotype owl:Class HP:0032459 biolink:NamedThing Abnormal phosphoribosylpyrophosphate synthetase level Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. tmpxe7fu0cj_hp_relaxed.owl 2019-03-09 17:34:47+00:00 Intracellular availability of the sugar phosphate, 5-phosphoribosyl 1-pyrophosphate (PP-ribose-P), is an important factor in regulation of the rate of purine synthesis de novo. PP-ribose- P synthetase (EC2.7.6.1) is an enzyme that catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. An increased activity of PP-ribose- P synthetase can be associated with increased PP-ribose-P concentrations and increased purine biosynthetic rates. Increased purine production in turn can be associated with gout. peter owl:Class HP:0030092 biolink:NamedThing Reduced muscle fiber merosin A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue. tmpxe7fu0cj_hp_relaxed.owl Reduced muscle fibre merosin UMLS:C4022651 owl:Class HP:0030090 biolink:NamedThing Abnormal muscle fiber merosin expression An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre merosin expression UMLS:C4022652 owl:Class HP:0040329 biolink:NamedThing Multifocal hyperintensity of cerebral white matter on MRI An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas. tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-5316-1399 owl:Class HP:0007765 biolink:NamedThing Deep anterior chamber Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0423280|SNOMEDCT_US:246991003 Deep anterior chamber can be seen in disorders such as congenital microphakia and buphthalmos. human_phenotype owl:Class HP:0031252 biolink:NamedThing Dilated left subclavian artery Abnormally increased caliber of the left subclavian artery. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 15:38:14+00:00 peter owl:Class HP:0012766 biolink:NamedThing Widened cerebral subarachnoid space An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022733 hecht 2014-04-06T11:08:12Z human_phenotype owl:Class HP:0031291 biolink:NamedThing Ichthyosis follicularis Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 21:18:38+00:00 peter owl:Class HP:0002185 biolink:NamedThing Neurofibrillary tangles Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. tmpxe7fu0cj_hp_relaxed.owl Paired helical filaments|Neurofibrillary tangles composed of disordered microtubules in neurons MSH:D016874|SNOMEDCT_US:85775002|UMLS:C0085400 HP:0007070|HP:0003132 human_phenotype owl:Class HP:0011553 biolink:NamedThing Discordant atrioventricular connection Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart. tmpxe7fu0cj_hp_relaxed.owl Discordant atrioventricular connexion UMLS:C0344615|SNOMEDCT_US:253277003 peter 2012-04-07T11:47:06Z human_phenotype owl:Class UBERON:0012102 biolink:NamedThing buccal salivary gland A salivary gland that is part of a cheek. tmpxe7fu0cj_hp_relaxed.owl FMA:59793|NCIT:C32237 uberon owl:Class HP:0011582 biolink:NamedThing Abdominal ectopia cordis Displacement of the heart outside the thoracic cavity and into the abdomen. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023287 peter 2012-04-08T01:10:32Z human_phenotype owl:Class HP:0020150 biolink:NamedThing Elevated urinary uromodulin An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine. tmpxe7fu0cj_hp_relaxed.owl Elevated urinary Tamm-Horsfall protein concentration Uromodulin (also known as Tamm Horsfall protein) is exclusively produced in the kidney and is the most abundant protein in normal urine. Levels of uromodulin in the urine and in the blood, where it is present in lower amounts, are valuable biomarkers for tubular mass and renal function. robinp 2019-07-05 19:52:14+00:00 owl:Class HP:0011238 biolink:NamedThing Prominent inferior crus of antihelix Increased protrusion of the inferior crus relative to the prominence of the antihelix stem. tmpxe7fu0cj_hp_relaxed.owl Hyperplastic inferior crus of antihelix|Antihelix, inferior crus, prominent|Hypertrophic inferior crus of antihelix UMLS:C4021195 peter 2011-12-18T11:24:43Z human_phenotype owl:Class HP:0032294 biolink:NamedThing Monoclonal elevation of IgG kappa chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 22:42:44+00:00 peter owl:Class PR:Q9QUM4 biolink:NamedThing signaling lymphocytic activation molecule (mouse) A SLAM family member 1 that is encoded in the genome of mouse. tmpxe7fu0cj_hp_relaxed.owl CD150 (mouse)|Slam|Slamf1|mSLAMF1|SLAM family member 1 (mouse) UniProtKB:Q9QUM4 Category=organism-gene. protein owl:Class HP:0005572 biolink:NamedThing Decreased renal tubular phosphate excretion tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968899 human_phenotype owl:Class HP:0200015 biolink:NamedThing Symmetric great toe depigmentation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021900 sebastiankohler 2010-06-16T11:57:43Z human_phenotype owl:Class HP:0002544 biolink:NamedThing Retrocollis A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3887667 Retrocollis is a spasmodic form of torticollis in which the head is drawn back. human_phenotype owl:Class HP:0001955 biolink:NamedThing Unexplained fevers Episodes of fever for which no infectious cause can be identified. tmpxe7fu0cj_hp_relaxed.owl Unexplained fevers UMLS:C1844662 owl:Class HP:0041084 biolink:NamedThing Compression-fractured thoracic vertebra A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. tmpxe7fu0cj_hp_relaxed.owl Wedge fractured thoracic vertebra|Compression fractured thoracic vertebra owl:Class HP:0012414 biolink:NamedThing Duodenal atrophy Wasting or decrease in size of all or part of the duodenum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022911 peter 2013-11-10T12:20:19Z human_phenotype owl:Class HP:0000552 biolink:NamedThing Tritanomaly Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. tmpxe7fu0cj_hp_relaxed.owl Dyschromatopsia, blue-yellow|Blue/yellow colour vision defect|Blue/yellow color vision defect|Blue yellow color blindness|Blue yellow colour blindness|Blue-yellow dyschromatopsia UMLS:C0155017|SNOMEDCT_US:85049009|UMLS:C1970167|MSH:D003117|SNOMEDCT_US:51886007 human_phenotype owl:Class HP:0006803 biolink:NamedThing Vivid hallucinations tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024978 owl:Class HP:0008711 biolink:NamedThing Benign prostatic hyperplasia The presence of non-malignant hyperplasia of the prostate. tmpxe7fu0cj_hp_relaxed.owl Benign prostatic hypertrophy MSH:D011470|UMLS:C0005001|UMLS:C1704272|SNOMEDCT_US:266569009 human_phenotype owl:Class HP:0031239 biolink:NamedThing Extrafoveal choroidal neovascularization A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 20:22:07+00:00 peter owl:Class HP:0031123 biolink:NamedThing Recurrent gastroenteritis Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 12:26:09+00:00 peter owl:Class HP:0410275 biolink:NamedThing Lumbosacral hemangioma A spinal cord hemangioma located in the lumbosacral spine region. tmpxe7fu0cj_hp_relaxed.owl Lumbar/sacral hemangioma 2018-10-30 02:21:55+00:00 owl:Class NCBITaxon:78536 biolink:NamedThing Euphyllophyta tmpxe7fu0cj_hp_relaxed.owl euphyllophytes GC_ID:1 ncbi_taxonomy owl:Class HP:0032337 biolink:NamedThing Monoclonal elevation of circulating IgE An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. tmpxe7fu0cj_hp_relaxed.owl 2019-02-18 14:15:47+00:00 peter owl:Class HP:0030209 biolink:NamedThing Calcium channel antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels. tmpxe7fu0cj_hp_relaxed.owl Ca channel antibody positivity|Ca2+ channel antibody positivity UMLS:C4022577 This abnormality can be observed in patients with Lambert-Eaton syndrome and other paraneoplastic syndromes. owl:Class HP:0009718 biolink:NamedThing Subependymal giant-cell astrocytoma A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:449799008|SNOMEDCT_US:1586004|MSH:D001254|UMLS:C0205768 peter 2009-01-31T12:07:02Z human_phenotype owl:Class HP:0007809 biolink:NamedThing Punctate corneal dystrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024796 human_phenotype owl:Class HP:0012121 biolink:NamedThing Panuveitis Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid. tmpxe7fu0cj_hp_relaxed.owl MSH:D015864|SNOMEDCT_US:75614007|UMLS:C0030343 hecht 2012-09-16T06:23:34Z human_phenotype owl:Class MPATH:599 biolink:NamedThing developmental process abnormalities developmental process abnormalities tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0100717 biolink:NamedThing Abnormal cementum morphology Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root). tmpxe7fu0cj_hp_relaxed.owl Abnormality of the cementum UMLS:C4021987 doelkens 2011-06-06T01:33:28Z owl:Class HP:0500026 biolink:NamedThing Hypoplasia of the musculature of the pelvis Underdevelopment of the musculature of the pelvis. tmpxe7fu0cj_hp_relaxed.owl 2017-05-25 16:53:10+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0030034 biolink:NamedThing Glomerular basement membrane lamellation Presence of abnormal additional layers of the basement membrane of the glomerulus. tmpxe7fu0cj_hp_relaxed.owl Lamellation of the glomerular basement membrane|Lamellated/basket-woven thickened glomerular basement membranes UMLS:C3278307 owl:Class HP:0000044 biolink:NamedThing Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). tmpxe7fu0cj_hp_relaxed.owl Isolated hypogonadotropic hypogonadism|Low gonadotropins (secondary hypogonadism)|Hypogonadotrophic hypogonadism UMLS:C0271623|UMLS:C3489396|SNOMEDCT_US:33927004|MSH:D007006 HP:0003335|HP:0008224 human_phenotype owl:Class HP:0006167 biolink:NamedThing Prominent proximal interphalangeal joints tmpxe7fu0cj_hp_relaxed.owl Prominent innermost hinge joints UMLS:C4025085 human_phenotype owl:Class HP:0033169 biolink:NamedThing Reduced total lung capacity Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration. tmpxe7fu0cj_hp_relaxed.owl Reduced TLC 2020-09-24 10:13:03+00:00 peter owl:Class HP:0012230 biolink:NamedThing Rhegmatogenous retinal detachment A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0271055|SNOMEDCT_US:19620000 peter 2013-03-31T09:20:35Z human_phenotype owl:Class HP:0030764 biolink:NamedThing Ochronosis Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:410042009|MSH:D009794|UMLS:C0028817 owl:Class HP:0003922 biolink:NamedThing Spurred humeral metaphysis tmpxe7fu0cj_hp_relaxed.owl Spurred metaphysis of long bone of upper arm UMLS:C4025505 human_phenotype owl:Class HP:0010215 biolink:NamedThing Contractures of the metatarsophalangeal joint of the hallux The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023966 doelkens 2009-06-02T01:45:34Z human_phenotype owl:Class HP:0040010 biolink:NamedThing Small posterior fossa tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022496 HPO:skoehler owl:Class HP:0033433 biolink:NamedThing Ileocecal ulcer An erosion of the mucous membrane in the region connecting the ileum and cecum. tmpxe7fu0cj_hp_relaxed.owl Ileo-cecal ulcer 2021-01-09 18:11:11+00:00 peter owl:Class HP:0001803 biolink:NamedThing Nail pits Small (typically about 1 mm or less in size) depressions on the dorsal nail surface. tmpxe7fu0cj_hp_relaxed.owl Pitted nails|Nail pits|Nail pitting MEDDRA:10028702|UMLS:C0150993|SNOMEDCT_US:89704006 human_phenotype owl:Class HP:0004472 biolink:NamedThing Mandibular hyperostosis Hyperostosis (bony overgrowth) of the mandible. tmpxe7fu0cj_hp_relaxed.owl Increased ossification of lower jaw|Increased ossification of mandibular bone|Hyperostosis of lower jaw|Thick lower jaw bone|Excessive growth of mandibular bone|Increased ossification of mandible|Hyperostosis of mandibular bone|Thick mandibular bone|Overgrowth of mandibular bone UMLS:C4280521|UMLS:C4280523|UMLS:C4280522|UMLS:C4025321 This bundled term will be made obsolete in future versions of the HPO. human_phenotype owl:Class HP:0032375 biolink:NamedThing Duffy Fyb positivity Presence of the Duffy Fyb antigen. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 13:42:55+00:00 peter owl:Class HP:0100452 biolink:NamedThing Osteolytic defects of the middle phalanx of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022075 human_phenotype owl:Class HP:0011918 biolink:NamedThing Clinodactyly of the 4th toe Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe). tmpxe7fu0cj_hp_relaxed.owl Curvature of 4th toe|4th toe clinodactyly UMLS:C4020740 peter 2012-06-08T08:44:27Z human_phenotype owl:Class HP:0040216 biolink:NamedThing Hypoinsulinemia A decreased concentration of insulin in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2748055 owl:Class HP:0007229 biolink:NamedThing Intracerebral periventricular calcifications The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1837246 human_phenotype owl:Class HP:0500150 biolink:NamedThing Hypoglutamatemia A decreased amount of glutamate in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased blood glutamate concentrations|Low blood glutamate levels 2018-10-04 14:29:47+00:00 Under normal circumstances, plasma glutamate concentration is 5-100 microM/L, the whole blood concentration is 150-300 microM/L while in the brain's ECF it is only 0.3-2 microM/L. owl:Class HP:0002448 biolink:NamedThing Progressive encephalopathy tmpxe7fu0cj_hp_relaxed.owl Progressive brain disease UMLS:C1838578|UMLS:C4280575 human_phenotype owl:Class HP:0007475 biolink:NamedThing Congenital bullous ichthyosiform erythroderma An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. tmpxe7fu0cj_hp_relaxed.owl Epidermolytic hyperkeratosis|Bullous congenital ichthyosiform erythroderma MSH:D017488|SNOMEDCT_US:254167000|UMLS:C0079153|SNOMEDCT_US:239071005 Epidermolytic hyperkeratosis can refer to the disease caused by mutations in the genes keratin 1 or keratin 10, but is here used to refer to the characteristic skin manifestations as a phenotypic feature. owl:Class UBERON:0004235 biolink:NamedThing mammary gland smooth muscle A portion of smooth muscle tissue that is part of a mammary gland [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl smooth muscle tissue of mammary gland EMAPA:37669|MA:0000795 uberon owl:Class HP:0012548 biolink:NamedThing Fatty replacement of skeletal muscle Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers tmpxe7fu0cj_hp_relaxed.owl Skeletal muscle fatty infiltration UMLS:C4021082 Fatty infiltration of muscle tissue can be observed on muscle biopsy as well as through imaging by computed tomography and magnetic resonance tomography. peter 2014-01-01T03:03:05Z human_phenotype owl:Class HP:0031972 biolink:NamedThing Presyncope Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause. tmpxe7fu0cj_hp_relaxed.owl 2018-07-08 00:03:46+00:00 peter owl:Class HP:0032543 biolink:NamedThing Lithoptysis Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen. tmpxe7fu0cj_hp_relaxed.owl 2019-05-27 15:19:14+00:00 peter owl:Class HP:0012497 biolink:NamedThing Reduced maximal expiratory pressure A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022879 peter 2013-11-30T08:28:49Z human_phenotype owl:Class HP:5000022 biolink:NamedThing Anti-Ma2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2. tmpxe7fu0cj_hp_relaxed.owl Anti-Ta antibody ORCID:0000-0002-3387-1836 owl:Class HP:0033010 biolink:NamedThing Increased fecal coproporphyrin 3 Abnormally high concentration of coproporphyrin 3 in feces tmpxe7fu0cj_hp_relaxed.owl High faecal coproporphyrin 3|Elevated faecal coproporphyrin 3|Elevated stool coproporphyrin 3|Increased faecal coproporphyrin 3|High stool coproporphyrin 3|High fecal coproporphyrin 3|Elevated fecal coproporphyrin 3 peter owl:Class PATO:0002179 biolink:NamedThing mislocalised proximally A positional quality inhering in a bearer by virtue of the bearer's being positioned towards to point of attachment or origin. tmpxe7fu0cj_hp_relaxed.owl 2010-02-25T12:34:48Z quality owl:Class HP:0041221 biolink:NamedThing Fractured head of femur A partial or complete breakage of the head of femur. tmpxe7fu0cj_hp_relaxed.owl bone head of femur owl:Class HP:0033122 biolink:NamedThing Absent P wave The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present. tmpxe7fu0cj_hp_relaxed.owl Absence of P wave on electrocardiography 2020-09-05 12:45:02+00:00 Absent P wave can be observed with conditions including atrial fibrillation and sinoatrial arrest, peter owl:Class HP:0032616 biolink:NamedThing Renal interstitial immunoglobulin deposits Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). tmpxe7fu0cj_hp_relaxed.owl Renal interstitial immunoglobulin deposition Monoclonal immunoglobulin deposition is characterized by nonorganized electron-dense granular deposits predominantly localized in basement membranes of the kidney (other organs may additionally be affected). By light microscopy, tubular lesions are characterized by the deposition of a refractile, eosinophilic, periodic acid-Schiff (PAS)-positive, ribbon-like material along the tubular basement membrane. immunofluorescence examination of the kidney. Immunofluoerescence may show evidence of monotypic light or heavy chain fixation along tubular basement membranes. Electron microscopy can show finely to coarsely granular electron-dense deposits along the outer (interstitial) aspect of the tubular basement membranes. peter owl:Class HP:0030403 biolink:NamedThing Spontaneous platelet aggregation Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1868263|MSH:C566800 owl:Class HP:0031555 biolink:NamedThing Reduced granulocyte CD59 level Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry. tmpxe7fu0cj_hp_relaxed.owl 2017-09-24 23:23:06+00:00 peter owl:Class HP:0032284 biolink:NamedThing Ultra-low vision with retained motion projection Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm). tmpxe7fu0cj_hp_relaxed.owl 2019-02-10 13:52:59+00:00 peter owl:Class HP:0002332 biolink:NamedThing Lack of peer relationships tmpxe7fu0cj_hp_relaxed.owl Lack of peer relationships UMLS:C1845337 human_phenotype owl:Class HP:0012667 biolink:NamedThing Regional left ventricular wall motion abnormality An abnormal motion of a segment of the left ventricle during the cardiac cycle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022789 This feature can be appreciated using color kinesis, which tracks the motion of the endocardium in real time throughout systole and results in color-encoded images reflecting the magnitude and timing of endocardial motion. peter 2014-02-15T01:12:48Z human_phenotype owl:Class HP:0003029 biolink:NamedThing Enlargement of the ankles tmpxe7fu0cj_hp_relaxed.owl Enlargement of the ankles UMLS:C1838664 human_phenotype owl:Class PATO:0001910 biolink:NamedThing folded A surface feature shape quality inhering in a bearer by virtue of the bearer's one part being layered over another connected part. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0001300 biolink:NamedThing Parkinsonism Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. tmpxe7fu0cj_hp_relaxed.owl Parkinsonian disease UMLS:C0242422|MSH:D020734|SNOMEDCT_US:32798002 owl:Class HP:0100739 biolink:NamedThing Bulimia A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these). tmpxe7fu0cj_hp_relaxed.owl Binge and purge SNOMEDCT_US:78004001|MSH:D002032|UMLS:C0006370 doelkens 2011-06-06T05:55:43Z human_phenotype owl:Class HP:0001269 biolink:NamedThing Hemiparesis Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. tmpxe7fu0cj_hp_relaxed.owl Weakness of one side of body UMLS:C0018989|SNOMEDCT_US:20022000|SNOMEDCT_US:127377003|MSH:D010291 human_phenotype owl:Class HP:0032731 biolink:NamedThing Focal aware hyperkinetic seizure A type of focal hypermotor seizure during which awareness is fully retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011206 biolink:NamedThing EEG with generalized slow activity grade 1 Slowing at frequencies between 7.5 and 8.5 Hz. tmpxe7fu0cj_hp_relaxed.owl EEG with generalised slow activity grade 1 UMLS:C4023468 hecht 2011-11-19T11:31:28Z human_phenotype owl:Class CHEBI:50336 biolink:NamedThing 4-hydroxybenzyl group tmpxe7fu0cj_hp_relaxed.owl 4-hydroxybenzyl|tyrosine side-chain 0 C7H7O 107.12988 107.04969 C1=C(C*)C=CC(=C1)O chebi_ontology owl:Class HP:0031344 biolink:NamedThing Pelvic arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 13:56:39+00:00 peter owl:Class HP:0033526 biolink:NamedThing Limited ankle dorsiflexion Reduced ability to move the foot up toward the shin. tmpxe7fu0cj_hp_relaxed.owl 2021-01-15 12:25:01+00:00 peter owl:Class HP:0006389 biolink:NamedThing Limited knee flexion Reduced ability to flex (bend) the knee joint. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839512 owl:Class HP:0006744 biolink:NamedThing Adrenocortical carcinoma A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone. tmpxe7fu0cj_hp_relaxed.owl Adrenal gland carinoma|Adrenal carcinoma MSH:D018268|NCIT:C2916|SNOMEDCT_US:255035007|SNOMEDCT_US:2227007|UMLS:C0206686 HP:0006759|HP:0002889 human_phenotype owl:Class HP:0100641 biolink:NamedThing Neoplasm of the adrenal cortex The presence of a neoplasm of the adrenal cortex. tmpxe7fu0cj_hp_relaxed.owl Cortical adrenal neoplasia MSH:D000306|NCIT:C3262|SNOMEDCT_US:18365006|UMLS:C0001618|SNOMEDCT_US:127022002 doelkens 2010-12-29T05:53:58Z human_phenotype owl:Class HP:0012273 biolink:NamedThing Increased carotid artery intimal medial thickness An increase in the combined thickness of the intima and media of the carotid artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022977 This feature can be measured by ultrasonography and is thought to be a risk foctor for myocardial infarction and stroke. peter 2013-04-07T02:16:23Z human_phenotype owl:Class HP:0030220 biolink:NamedThing Socially inappropriate behavior Behavior that is not in line with social norms. tmpxe7fu0cj_hp_relaxed.owl Socially inappropriate behavior|Socially inappropriate behaviour UMLS:C2220010 owl:Class MPATH:27 biolink:NamedThing arthrosis Changes characterized by erosion of articular cartilage, either primary or secondary to trauma or other conditions. Not primarily an inflammatory process. tmpxe7fu0cj_hp_relaxed.owl osteoarthrosis|Degenerative joint disease mouse_pathology.ontology owl:Class HP:0033825 biolink:NamedThing Superior mediastinal mass A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4). tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:26:41+00:00 peter owl:Class HP:0004754 biolink:NamedThing Permanent atrial fibrillation Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent. tmpxe7fu0cj_hp_relaxed.owl Chronic atrial fibrillation SNOMEDCT_US:426749004|SNOMEDCT_US:440028005|UMLS:C2586056|UMLS:C0694539 The natural history of atrial fibrillation (AF) is characterized by a gradual worsening with time. AF itself produces changes in atrial function and structure. Note there is no precise definition of the duration of AF required to be regarded as chronic. owl:Class HP:0032735 biolink:NamedThing Focal aware emotional seizure with anger Focal emotional seizure with anger in which awareness is retained throughout. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0031648 biolink:NamedThing Penetrating aortic ulcer A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 14:55:54+00:00 Pentrating aortic ulcers are typically caused by atherosclerotic lesions. peter owl:Class HP:0001041 biolink:NamedThing Facial erythema Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. tmpxe7fu0cj_hp_relaxed.owl Red face|Ruddy face|Red in the face|Rosacea|Blushed cheeks|Blushing UMLS:C0239488|SNOMEDCT_US:271811009|UMLS:C0035854|MSH:D012393|SNOMEDCT_US:20255002|UMLS:C4020880|MSH:D001821|SNOMEDCT_US:398909004|UMLS:C0005874 HP:0001068 owl:Class HP:0031014 biolink:NamedThing Arteria lusoria Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria. tmpxe7fu0cj_hp_relaxed.owl Lusorian artery|Aberrant right subclavian artery 2017-05-18 03:40:20+00:00 peter owl:Class HP:0004376 biolink:NamedThing Neuroblastic tumor A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. tmpxe7fu0cj_hp_relaxed.owl Neuroblastic tumour UMLS:C1334953 Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors. peter 2008-03-18T07:39:00Z human_phenotype owl:Class HP:0003612 biolink:NamedThing Positive ferric chloride test If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood. tmpxe7fu0cj_hp_relaxed.owl Positive FeCl3 test UMLS:C4025589 The ferric chloride test indicates presence of high levels of phenylpyruvate in urine, because ferric ion forms a blue-green colored complex with phenylpyruvate. Some other compounds can also lead to a positive ferric chloride test. The ferric chloride test is no longer used in modern clinical practice, but this term is kept for historical reasons. The urine phenylpyruvate concentration is elevated in phenylketonuria. human_phenotype owl:Class HP:0003459 biolink:NamedThing Polyclonal elevation of IgM A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025612 human_phenotype owl:Class HP:0030193 biolink:NamedThing Fatigable weakness of chewing muscles A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022590 owl:Class HP:0012381 biolink:NamedThing Delayed self-feeding during toddler years A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022920 peter 2013-10-16T11:46:54Z human_phenotype owl:Class HP:0005133 biolink:NamedThing Right ventricular dilatation Enlargement of the chamber of the right ventricle. tmpxe7fu0cj_hp_relaxed.owl Dilated heart right ventricle SNOMEDCT_US:253522006|UMLS:C0344893|Fyler:2333|Fyler:1827 human_phenotype owl:Class HP:0011857 biolink:NamedThing Plasmacytoma A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0032131|SNOMEDCT_US:10639003|SNOMEDCT_US:415112005|MSH:D010954 Plasmacytoma often generalizes to multiple myeloma over the course of several years. hecht 2012-05-21T11:34:44Z human_phenotype owl:Class PATO:0001879 biolink:NamedThing U-shaped A concave 3-D shape quality inhering in a bearer by virtue of the bearer's being shaped in the form of the letter U. tmpxe7fu0cj_hp_relaxed.owl horseshoe|horseshoe shaped quality owl:Class MPATH:429 biolink:NamedThing myxomatous tumor Neoplasms resembling primitive mesenchymal tissue with a soft mucous matrix. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0008178 biolink:NamedThing Abnormal cartilage matrix tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024721 human_phenotype owl:Class HP:0032850 biolink:NamedThing Focal aware cognitive seizure with expressive dysphasia/aphasia A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0004566 biolink:NamedThing Pear-shaped vertebrae Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. tmpxe7fu0cj_hp_relaxed.owl Pear-shaped vertebral bodies UMLS:C1866731 human_phenotype owl:Class HP:0003777 biolink:NamedThing Pili torti Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. tmpxe7fu0cj_hp_relaxed.owl Flattened and twisted hair MSH:C562485|UMLS:C0263491|SNOMEDCT_US:17170005 human_phenotype owl:Class NCBITaxon:436491 biolink:NamedThing Theropoda tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:436489 biolink:NamedThing Saurischia tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0000970 biolink:NamedThing Anhidrosis Inability to sweat. tmpxe7fu0cj_hp_relaxed.owl Sudomotor dysfunction|Lack of sweating|Anhydrosis|Sweating dysfunction UMLS:C0003028|MEDDRA:10002512|SNOMEDCT_US:39659002|MSH:D007007|SNOMEDCT_US:14662005 human_phenotype owl:Class HP:0025277 biolink:NamedThing Gustatory sweating Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating). tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 15:12:09+00:00 HPO:probinson owl:Class HP:0410136 biolink:NamedThing Aquagenic urticaria A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin. tmpxe7fu0cj_hp_relaxed.owl 2018-03-02 19:52:44+00:00 ORCID:0000-0001-5208-3432 owl:Class MAXO:0000862 biolink:NamedThing fetal Doppler velocimetry An antenatal ultrasonographic method that measures blood flow velocity through either maternal or fetal vessels. tmpxe7fu0cj_hp_relaxed.owl Doppler velocimetry 2021-02-18 15:13:50+00:00 NCIT:C114080 owl:Class HP:0031719 biolink:NamedThing True distance exotropia Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 13:40:43+00:00 peter owl:Class HP:0005313 biolink:NamedThing Arterial fibromuscular dysplasia An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer. tmpxe7fu0cj_hp_relaxed.owl MSH:D005352|SNOMEDCT_US:359553002|UMLS:C0016052|SNOMEDCT_US:31653004 Fibromuscular dysplasia (FMD) is distinct from atherosclerotic lesions in that FMD lesions do not contain inflammatory cells or lipids. Instead, the pathology of FMD. FMD can result in arterial stenosis or occlusion, and less commonly, arterial dissection or aneurysm formation. FMD can affect almost any artery but most commonly affects the renal arteries, presenting as hypertension, and the carotid and vertebral arteries, leading to ischemic stroke, transient ischemic attacks, headaches, and pulsatile tinnitus. human_phenotype owl:Class HP:0010956 biolink:NamedThing Fetal megacystis Fetal megacystis is an abnormally enlarged bladder identified at any gestational age. tmpxe7fu0cj_hp_relaxed.owl Foetal megacystis MSH:C536139|UMLS:C2931117 Abnormal enlargement of the fetal bladder can be detected by prenatal ultrasound by fourteen weeks of gestation. In some cases, dilatation of the fetal bladder is transient and resolves without sequelae, and in other cases it is the earliest manifestation of bladder outlet obstruction. peter 2011-01-18T10:43:58Z human_phenotype owl:Class HP:0025707 biolink:NamedThing Hypoplastic nasal bone Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques. tmpxe7fu0cj_hp_relaxed.owl Different studies have used different cut-offs to assess the length of nasal bone. Most data supports use of gestation and ethnicity specific centiles or MoMs. Hypoplastic nasal bone on antenatal ultrasound is one of the soft markers for Down syndrome. This marker can be used to adjust a-priori risk for Down syndrome and offer options for further diagnostic testing to the pregnant woman. Hypoplastic nasal bone can also rarely be a marker for submicroscopic copy number abnormalities and single gene disorders in the fetus. peterrobinson owl:Class HP:0005944 biolink:NamedThing Bilateral lung agenesis Bilateral lack of development of the lungs. tmpxe7fu0cj_hp_relaxed.owl Bilateral pulmonary agenesis|Absent lungs UMLS:C4021610|Fyler:4206 HP:0006550 human_phenotype owl:Class HP:0011741 biolink:NamedThing Secondary hyperaldosteronism A form of hyperaldosteronism caused by abnormally increased renin levels. tmpxe7fu0cj_hp_relaxed.owl Hyperreninemic hyperaldosteronism SNOMEDCT_US:67805000|UMLS:C0271728 peter 2012-04-21T09:32:28Z human_phenotype owl:Class HP:0032267 biolink:NamedThing Empty delta sign This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 20:21:18+00:00 The use of multislice contrast-enhanced CT scan, with reconstructions into thinner slices in different planes, markedly improves the yield. The sign may not be seen in the early stage (less than 5 days) of thrombosis, as the fresh clot is hyperdense, or in the late stage (after more than 2 months), as numerous channels of recanalization develop in the thrombus after 2 months. peter owl:Class HP:0100439 biolink:NamedThing Bullet-shaped proximal phalanx of the 5th toe An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. tmpxe7fu0cj_hp_relaxed.owl Bullet-shaped innermost bone of pinkie toe|Bullet-shaped innermost bone of little toe|Bullet-shaped innermost bone of pinky toe UMLS:C4022088 human_phenotype owl:Class PATO:0002212 biolink:NamedThing slender A shape quality inhering in a bearer by virtue of the bearer's being small or narrow in circumference or width in proportion to length or height. tmpxe7fu0cj_hp_relaxed.owl gracile 2010-07-08T01:32:26Z quality owl:Class HP:0033850 biolink:NamedThing Coldness Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness. tmpxe7fu0cj_hp_relaxed.owl Coolness to palpation|Cool skin temperature|Cool skin|Cold skin temperature 2021-06-02 17:59:33+00:00 Coldness is a nonspecific finding, but can be a sing of peripheral vascular disease with a reduction in blood perfusion resulting in relative coldness of the affected body part (usually a hand or foot or an extremity). peter owl:Class CL:1000311 biolink:NamedThing adipocyte of epicardial fat of left ventricle A fat cell that is part of the epicardial fat of left ventricle. tmpxe7fu0cj_hp_relaxed.owl epicardial fat cell of left ventricle|epicardial adipocyte of left ventricle FMA:261300 cell owl:Class HP:0009158 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 5th finger Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the innermost bone of pinkie finger|Enlarged end part of the innermost bone of pinky finger|Enlarged end part of the innermost bone of little finger UMLS:C4024566 peter 2008-12-22T05:50:39Z human_phenotype owl:Class CHEBI:70709 biolink:NamedThing progesterone receptor agonist A hormone agonist that binds to and activates progesterone receptors. tmpxe7fu0cj_hp_relaxed.owl PR agonists|progesterone receptor agonists|PR agonist chebi_ontology owl:Class HP:0004291 biolink:NamedThing Stippled calcification of hand bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025365 human_phenotype owl:Class HP:0007733 biolink:NamedThing Laterally curved eyebrow tmpxe7fu0cj_hp_relaxed.owl UMLS:C1846266 human_phenotype owl:Class HP:0011963 biolink:NamedThing Pretesticular azoospermia Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023105 peter 2012-07-16T12:28:55Z human_phenotype owl:Class HP:0033016 biolink:NamedThing Chronic decreased circulating IgD A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood. tmpxe7fu0cj_hp_relaxed.owl Chronic decreased IgM in blood peter owl:Class HP:0001104 biolink:NamedThing Macular hypoplasia Underdevelopment of the macula lutea. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849412 human_phenotype owl:Class HP:0006743 biolink:NamedThing Embryonal rhabdomyosarcoma tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:14269005|NCIT:C8971|SNOMEDCT_US:404051002|UMLS:C0206656|MSH:D018233 human_phenotype owl:Class HP:0033087 biolink:NamedThing Quotidian fever Fever that occurs at daily intervals. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011881 biolink:NamedThing Decreased platelet glycoprotein VI Decreased cell membrane concentration of glycoprotein VI. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023148 The glycoprotein VI is a glycoprotein receptor for collagen. peter 2012-06-02T09:17:33Z human_phenotype owl:Class CL:0000626 biolink:NamedThing olfactory granule cell Granule cell that is part of the olfactory bulb. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0007250 biolink:NamedThing Recurrent external ophthalmoplegia Alternating and recurrent weakness of the external ocular muscles. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024915 human_phenotype owl:Class HP:0005341 biolink:NamedThing Autonomic bladder dysfunction Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025212 human_phenotype owl:Class HP:0006086 biolink:NamedThing Thin metacarpal cortices tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850160 human_phenotype owl:Class UBERON:0014882 biolink:NamedThing distal epiphysis of distal phalanx of manual digit 2 A distal epiphysis that is part of a distal phalanx of manual digit 2. tmpxe7fu0cj_hp_relaxed.owl distal epiphysis of distal phalanx of manual digit II|head of distal phalanx of index finger|ungual tuberosity of distal phalanx of index finger|distal end of distal phalanx of index finger|distal epiphysis of distal phalanx of index finger|head of distal phalanx of second finger|distal end of distal phalanx of second finger FMA:37621 uberon owl:Class HP:0025203 biolink:NamedThing Caput medusae Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins. tmpxe7fu0cj_hp_relaxed.owl Palm tree sign 2016-12-10 13:11:24+00:00 Caput medusae is a sign of severe portal hypertension with portal-systemic shunting through the umbilical veins. The name refers to Medusa's hair once Minerva had turned it into snakes. Caput Medusae can be distinguished from inferior vena cava obstruction by determining the direction of flow in the veins below the umbilicus; it is towards the legs in caput medusae, and towards the head with inferior vena cava obstruction. HPO:probinson owl:Class HP:0033487 biolink:NamedThing Glomerular basement membranes powdery deposit Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. tmpxe7fu0cj_hp_relaxed.owl Glomerular basement membranes with powdery deposit 2021-01-10 12:47:35+00:00 peter owl:Class HP:0011661 biolink:NamedThing Anomalous origin of left pulmonary artery from ascending aorta The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0345040|SNOMEDCT_US:253637002 peter 2012-04-09T10:42:23Z human_phenotype owl:Class HP:0100519 biolink:NamedThing Anuria Absence of urine, clinically classified as below 50ml/day. tmpxe7fu0cj_hp_relaxed.owl Absent urine output MSH:D001002|SNOMEDCT_US:2472002|UMLS:C0003460 doelkens 2010-12-20T10:41:00Z human_phenotype owl:Class HP:0004420 biolink:NamedThing Arterial thrombosis The formation of a blood clot inside an artery. tmpxe7fu0cj_hp_relaxed.owl Blood clot in artery SNOMEDCT_US:65198009|UMLS:C0151942 peter 2008-03-18T09:32:00Z human_phenotype owl:Class HP:0000495 biolink:NamedThing Recurrent corneal erosions The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. tmpxe7fu0cj_hp_relaxed.owl Recurrent breakdown of clear protective layer of eye|Corneal erosions, recurrent|Recurrent corneal ulceration|Epithelial corneal erosions|Recurrent corneal ulcerations UMLS:C0010043|MSH:D003320|SNOMEDCT_US:2055003|UMLS:C4020888|UMLS:C0155119|SNOMEDCT_US:91514001 HP:0007674|HP:0007749 human_phenotype owl:Class HP:0009741 biolink:NamedThing Nephrosclerosis Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. tmpxe7fu0cj_hp_relaxed.owl Scarring of kidney arteries|Thickening of kidney artiries UMLS:C0027719|SNOMEDCT_US:32916005|MSH:D009400 peter 2009-01-31T01:15:08Z human_phenotype owl:Class HP:0011402 biolink:NamedThing Demyelinating sensory neuropathy Demyelination of peripheral sensory nerves. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023373 peter 2012-03-12T08:28:12Z human_phenotype owl:Class HP:0004392 biolink:NamedThing Prune belly A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants. tmpxe7fu0cj_hp_relaxed.owl Prune belly MSH:D011535|SNOMEDCT_US:5187006|UMLS:C0033770 Wrinkly folds of skin covering the abdomen as a result of partial or complete lack of abdominal muscles. peter 2008-03-18T09:08:00Z human_phenotype owl:Class HP:0030786 biolink:NamedThing Photopsia Perceived flashes of light. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0085635|SNOMEDCT_US:56170001 Photopsia may be associated with (1) posterior vitreous detachment, (2) migraine with aura, (3) migraine aura without headache, and (4) retinal break or detachment. owl:Class HP:0045051 biolink:NamedThing Decreased DLCO Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. tmpxe7fu0cj_hp_relaxed.owl Decreased diffusing capacity UMLS:C4073175 DLCO is decreased in any condition which affects the effective alveolar surface area owl:Class HP:0007410 biolink:NamedThing Palmoplantar hyperhidrosis An abnormally increased perspiration on palms and soles. tmpxe7fu0cj_hp_relaxed.owl Hyperhidrosis of palms and soles|Excessive sweating of palms and soles MSH:C563185|SNOMEDCT_US:403375001|UMLS:C1274743 HP:0007624 human_phenotype owl:Class HP:0009761 biolink:NamedThing Anterior clefting of vertebral bodies Anterior schisis (cleft or cleavage) of vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849579 peter 2009-01-31T10:40:39Z human_phenotype owl:Class HP:0009901 biolink:NamedThing Crumpled ear Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. tmpxe7fu0cj_hp_relaxed.owl Crumpled ear UMLS:C4024166 This is distinct from Stahl ear and Shell ear, with which the term has sometimes been conflated. The appearance often changes markedly after birth. peter 2009-04-30T10:50:28Z human_phenotype owl:Class HP:0025513 biolink:NamedThing Scleral rupture Breakage of the sclera. tmpxe7fu0cj_hp_relaxed.owl 2017-05-15 01:54:50+00:00 Scleral rupture may occur following trauma or may be observed with some types of Ehlers Danlos syndrome and other disorders. The rupture may be hidden by an intact conjunctiva. HPO:probinson owl:Class HP:0005725 biolink:NamedThing Nonopposable triphalangeal thumb A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2931238|MSH:C536562 human_phenotype owl:Class HP:0032139 biolink:NamedThing Reduced isohemagglutinin level Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). tmpxe7fu0cj_hp_relaxed.owl Partial absence of isohemagglutinins|Decreased natural antibody to blood group agents 2018-11-22 15:04:35+00:00 The determination of isohemagglutinins can be used to evaluate an individual's ability to mount an immune response except in persons with blood group AB. peter owl:Class HP:0032947 biolink:NamedThing Renal medullary interstitial inflammation Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0005070 biolink:NamedThing Proximal radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1865570 human_phenotype owl:Class PATO:0002142 biolink:NamedThing bracket tmpxe7fu0cj_hp_relaxed.owl 2009-10-28T03:14:54Z quality owl:Class PATO:0001408 biolink:NamedThing ciliatedness A cellular quality inhering in a bearer by virtue of the bearer's having thin, tail-like projections extending outwards from the cell body. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0005900 biolink:NamedThing Fifth metacarpal with ulnar notch Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger). tmpxe7fu0cj_hp_relaxed.owl Fifth metacarpal notched on ulnar side UMLS:C3276324 human_phenotype owl:Class HP:0025149 biolink:NamedThing Atrophic muscularis propria Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis. tmpxe7fu0cj_hp_relaxed.owl Degenerative enteric myopathy|Autonomic visceral myopathy 2016-12-03 14:04:10+00:00 HPO:probinson owl:Class CL:0000211 biolink:NamedThing electrically active cell A cell whose function is determined by the generation or the reception of an electric signal. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0025564 biolink:NamedThing Anterior chamber cells grade 2+ Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. tmpxe7fu0cj_hp_relaxed.owl 2017-12-14 13:21:53+00:00 HPO:probinson owl:Class HP:0025715 biolink:NamedThing Abnormal umbilical artery doppler waveform during pregnancy Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0011515 biolink:NamedThing Abnormal stereopsis Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023319 peter 2012-04-06T06:03:49Z human_phenotype owl:Class HP:0045080 biolink:NamedThing Decreased proportion of CD3-positive T cells Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells. tmpxe7fu0cj_hp_relaxed.owl Decreased proportion of CD3+ T cells HP:0045072 owl:Class HP:0005165 biolink:NamedThing Shortened PR interval Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. tmpxe7fu0cj_hp_relaxed.owl Electrocardiographic short PR interval|Shortened PR interval on EKG|Short P-R interval SNOMEDCT_US:49578007|UMLS:C0520878 human_phenotype owl:Class HP:0005942 biolink:NamedThing Desquamative interstitial pneumonitis Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present. tmpxe7fu0cj_hp_relaxed.owl Filling of the alveoli with desquamated epithelial cells|Intra-alveolar accumulation of macrophages|Filling of the alveoli with alveolar macrophages MSH:C562470|SNOMEDCT_US:8549006|UMLS:C0238378 The name originated from the belief that the dominant histologic feature was desquamation of epithelial cells. However, this is now recognized to be intra-alveolar macrophage accumulation rather than desquamation of epithelial cells as originally thought by Liebow and Carrington. In adults the condition is almost invariable associated with cigarette smoke. However, rare cases occur in nonsmokers, some of whom have had exposure to environmental inhalation exposures including passive exposure to cigarette smoke. In children genetically caused surfactant dysfunction syndromes may have the histological pattern of DIP. owl:Class HP:0007490 biolink:NamedThing Linear arrays of macular hyperkeratoses in flexural areas tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866031 human_phenotype owl:Class HP:0033176 biolink:NamedThing Submandibular lymph node enlargement Increased size of the lymph nodes that are located beneath the mandible (lower jaw). tmpxe7fu0cj_hp_relaxed.owl Submandibular lymphadenopathy 2020-09-25 12:46:03+00:00 peter owl:Class HP:0008663 biolink:NamedThing Renal sarcoma A sarcoma of the kidney. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3158|SNOMEDCT_US:254918001|UMLS:C0346251 human_phenotype owl:Class HP:0031765 biolink:NamedThing Partially accomodative esotropia A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses. tmpxe7fu0cj_hp_relaxed.owl Constant esotropia with an accommodative component|Constant esotropia with an accommodative element 2018-01-21 14:48:00+00:00 peter owl:Class HP:0034030 biolink:NamedThing Lip cyanosis Bluish discoloration of the lips. tmpxe7fu0cj_hp_relaxed.owl Bluish lips|Cyanotic lips|Labial cyanosis 2021-09-24 13:02:41+00:00 peter owl:Class HP:0009372 biolink:NamedThing Type A2 brachydactyly tmpxe7fu0cj_hp_relaxed.owl Short index fingers and second toes MSH:C537089|UMLS:C1832702 doelkens 2009-01-13T10:50:19Z human_phenotype owl:Class HP:0012556 biolink:NamedThing Hyperbeta-alaninemia Increased concentration of beta-alanine in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood beta-alanine levels|Hyperbetaalaninemia|Hyperbeta-alaninemia UMLS:C4021080 peter 2014-01-04T01:37:23Z owl:Class HP:0033413 biolink:NamedThing Upper extremity hypokinesia Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. tmpxe7fu0cj_hp_relaxed.owl Hypokinesia of the upper extremities 2021-01-09 16:33:49+00:00 peter owl:Class HP:0025563 biolink:NamedThing Anterior chamber cells grade 0 Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. tmpxe7fu0cj_hp_relaxed.owl 2017-12-14 13:19:21+00:00 HPO:probinson owl:Class HP:0006699 biolink:NamedThing Premature atrial contractions A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. tmpxe7fu0cj_hp_relaxed.owl Atrial premature complex|PACs|Premature supraventricular beats|Atrial ectopic beats|Ectopic supraventricular rhythms MSH:D018880|UMLS:C0033036|SNOMEDCT_US:63593006|SNOMEDCT_US:284470004|SNOMEDCT_US:406461004|SNOMEDCT_US:287057009 human_phenotype owl:Class PATO:0002270 biolink:NamedThing increased accumulation An increased number of physical objects that are accumulated within another physical object usually as a result of a failure to break down or remove objects in a timely manner. tmpxe7fu0cj_hp_relaxed.owl accumulated 2010-10-26T02:00:20Z quality owl:Class MPATH:90 biolink:NamedThing aneurysm Localised dilation of an artery or heart chamber usually due to an acquired or congenital weakness of the wall of the artery or chamber. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class PATO:0001507 biolink:NamedThing disrupted A quality of a single process inhering in a bearer by virtue of the bearer's being interrupted of its normal course. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0003462 biolink:NamedThing Elevated 8-dehydrocholesterol tmpxe7fu0cj_hp_relaxed.owl UMLS:C1840013 human_phenotype owl:Class HP:0008568 biolink:NamedThing Vestibular areflexia Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography. tmpxe7fu0cj_hp_relaxed.owl Vestibular ataxia UMLS:C0235927|SNOMEDCT_US:22443004|UMLS:C4015052 HP:0008526 human_phenotype owl:Class HP:0025272 biolink:NamedThing Melasma Symmetrical, blotchy, brownish facial pigmentation. tmpxe7fu0cj_hp_relaxed.owl Chloasma|Facial melanosis 2016-12-18 13:48:05+00:00 Melasma can be seen in individuals who have had substantial exposure to the sun, in pregnant women, with hormone treatments or as a side effect of certain medications, or with hypothyroidism, among other causes. HPO:probinson owl:Class HP:0032092 biolink:NamedThing Left ventricular outflow tract obstruction Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle. tmpxe7fu0cj_hp_relaxed.owl 2018-10-14 15:15:58+00:00 Common causes of left ventricular outflow tract (LVOT) obstruction include subaortic stenosis, bicupsid aortic valve, supravalvar aortic stenosis, coarctation of the aorta, and hypertrophic cardiomyopathy. Note that we reserve this term to describe the physiological abnormality, and denote the morphological abnormalities that lead to LVOT obstruction in the corresponding Morphology sections of the HPO. peter owl:Class HP:0025583 biolink:NamedThing Tapetal-like fundal reflex Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 19:32:18+00:00 This appearance is typically seen in female carriers of X-linked RP associated mutations. HPO:probinson owl:Class HP:0010659 biolink:NamedThing Patchy variation in bone mineral density Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays. tmpxe7fu0cj_hp_relaxed.owl Patchy increased and decreased bone mineral density UMLS:C4021245 doelkens 2010-02-25T10:49:23Z human_phenotype owl:Class HP:0033617 biolink:NamedThing Supernumerary tracheal bronchus Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 22:34:18+00:00 peter owl:Class HP:0025710 biolink:NamedThing Late young adult onset Onset of disease at an age of greater than or equal to 25 to under 40 years. tmpxe7fu0cj_hp_relaxed.owl This term includes the full 25th year of age up to the completed 40th year of age (i.e., less than the 40th birthday). peterrobinson owl:Class HP:0100347 biolink:NamedThing Tibial deviation of the 5th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022133 doelkens 2010-11-11T03:44:27Z human_phenotype owl:Class HP:0025218 biolink:NamedThing Triggered by hyperventilation Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing. tmpxe7fu0cj_hp_relaxed.owl Triggered by hyperventilation|Hyperventilation triggered symptoms 2016-12-10 14:02:50+00:00 HPO:probinson owl:Class HP:0011408 biolink:NamedThing Moderate intrauterine growth retardation Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023370 peter 2012-03-15T09:52:50Z human_phenotype owl:Class HP:0012685 biolink:NamedThing Decreased pineal volume An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022780 peter 2014-03-22T01:10:12Z human_phenotype owl:Class PATO:0001544 biolink:NamedThing flexible tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0010491 biolink:NamedThing Digital constriction ring A narrow segment of significantly reduced circumference of a digit. tmpxe7fu0cj_hp_relaxed.owl Amniotic constriction rings of digits UMLS:C4021261 The description should specify the hand and digit that is affected and the approximate location of the band relative to the phalanges. It may be described as partial, if it does not involve the entire circumference of the digit. peter 2009-09-16T11:08:16Z human_phenotype owl:Class HP:0025176 biolink:NamedThing Intralobular interstitial thickening A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance. tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 19:39:14+00:00 HPO:probinson owl:Class HP:0000956 biolink:NamedThing Acanthosis nigricans A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. tmpxe7fu0cj_hp_relaxed.owl Darkened and thickened skin|Keratosis nigricans MSH:D000052|SNOMEDCT_US:72129000|UMLS:C0000889|SNOMEDCT_US:402599005 Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia. HP:0007498|HP:0007518|HP:0007591 human_phenotype owl:Class HP:0010528 biolink:NamedThing Prosopagnosia Inability to recognize faces of familiar persons. tmpxe7fu0cj_hp_relaxed.owl Face blindness|Facial agnosia UMLS:C0234512|MSH:D020238|SNOMEDCT_US:18358003 peter 2009-09-20T11:45:49Z human_phenotype owl:Class HP:0031891 biolink:NamedThing Decreased eosinophil count Abnormal reduction in the count of eosinophils in the blood per volume. tmpxe7fu0cj_hp_relaxed.owl 2018-05-13 20:35:28+00:00 peter owl:Class HP:0010717 biolink:NamedThing Osseous syndactyly of toes Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". tmpxe7fu0cj_hp_relaxed.owl Osseous syndactyly of the toes SNOMEDCT_US:38859008|SNOMEDCT_US:32113001|UMLS:C0158738 sdoelken 2010-03-26T05:31:50Z owl:Class GO:0003331 biolink:NamedThing positive regulation of extracellular matrix constituent secretion Any process that increases the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. tmpxe7fu0cj_hp_relaxed.owl dph 2009-11-02T02:11:22Z biological_process owl:Class UBERON:0008462 biolink:NamedThing postzygapophysis of cervical vertebra An postzygapophysis that is part of a cervical vertebra. tmpxe7fu0cj_hp_relaxed.owl inferior articular process of cervical vertebra FMA:23970 uberon owl:Class HP:0030556 biolink:NamedThing Best corrected visual acuity 0.3 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073029 owl:Class HP:0500036 biolink:NamedThing Nasolacrimal sac papilloma Benign tumor of the nasolacrimal sac. tmpxe7fu0cj_hp_relaxed.owl 2018-01-31 16:58:13+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0500035 biolink:NamedThing Nasolacrimal sac granuloma A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac. tmpxe7fu0cj_hp_relaxed.owl 2018-01-31 16:48:25+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0012711 biolink:NamedThing Delayed ossification of vertebral epiphysis A delay in the process of formation and maturation of the epiphysis of one or more vertebrae. tmpxe7fu0cj_hp_relaxed.owl Delayed maturation of the end part of the vertebral bone UMLS:C4280312|UMLS:C4022759 peter 2014-03-23T12:27:51Z human_phenotype owl:Class HP:0005085 biolink:NamedThing Limited knee flexion/extension A limited ability of the knee joint to perform extension and flexion. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968606 owl:Class HP:0033443 biolink:NamedThing Elevated circulating propionylcarnitine concentration Increased concentration of propionylcarnitine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 18:50:06+00:00 peter owl:Class HP:0002790 biolink:NamedThing Neonatal breathing dysregulation tmpxe7fu0cj_hp_relaxed.owl Impaired breathing in newborn UMLS:C3806216 human_phenotype owl:Class HP:0410230 biolink:NamedThing Increased anti-nut food product IgE antibody level Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds. tmpxe7fu0cj_hp_relaxed.owl 2018-10-03 21:34:16+00:00 owl:Class HGNC:5147 biolink:NamedThing HPD (human) A protein coding gene HPD in human. tmpxe7fu0cj_hp_relaxed.owl Category=external. gene owl:Class HP:0000794 biolink:NamedThing IgA deposition in the glomerulus The presence of immunoglobulin A deposits in the glomerulus. tmpxe7fu0cj_hp_relaxed.owl IgA nephropathy UMLS:C4025827|UMLS:C0017661|MSH:D005922|SNOMEDCT_US:68779003|SNOMEDCT_US:236407003 human_phenotype owl:Class HP:0031817 biolink:NamedThing Decreased circulating parathyroid hormone level An abnormally decreased concentration of parathyroid hormone. tmpxe7fu0cj_hp_relaxed.owl Decreased serum PTH|Decreased circulating PTH level|Decreased serum parathyroid hormone|Decreased serum parathyroid hormone level 2018-05-01 01:55:46+00:00 peter owl:Class HP:0030929 biolink:NamedThing 1-minute APGAR score of 2 tmpxe7fu0cj_hp_relaxed.owl 2016-11-07 18:16:20+00:00 robinp owl:Class HP:0003640 biolink:NamedThing CNS foam cells The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843373 owl:Class HP:0001845 biolink:NamedThing Overlapping toe Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. tmpxe7fu0cj_hp_relaxed.owl Overriding toes|Overlapping toes|Crossover toe|Overlapping toe SNOMEDCT_US:203541003|UMLS:C0920299 This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly. human_phenotype owl:Class HP:0007598 biolink:NamedThing Bilateral single transverse palmar creases The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1862095 human_phenotype owl:Class HP:0007258 biolink:NamedThing Severe demyelination of the white matter A severe loss of myelin from nerve fibers in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856001 human_phenotype owl:Class HP:0001727 biolink:NamedThing Thromboembolic stroke A cerebrovascular accident (stroke) that occurs because of thromboembolism. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1112433 human_phenotype owl:Class HP:0031326 biolink:NamedThing Monoclonal light chain cardiac amyloidosis A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 12:23:49+00:00 peter owl:Class PATO:0000944 biolink:NamedThing sharpness A shape quality inhering in a bearer by virtue of the bearer's having a sharp or tapered end or point. tmpxe7fu0cj_hp_relaxed.owl apiculate quality owl:Class HP:0025228 biolink:NamedThing Triggered by sudden movement Applies to a sign or symptom that is provoked or brought about by a sudden movement. tmpxe7fu0cj_hp_relaxed.owl Triggered by sudden movement|Sudden movement triggered symptoms|Kinesigenic 2016-12-10 14:29:50+00:00 HPO:probinson owl:Class HP:0005422 biolink:NamedThing Absence of CD8-positive T cells Lack of detectible CD8-positive T cells tmpxe7fu0cj_hp_relaxed.owl Absence of CD8+ T cells UMLS:C4025197 human_phenotype owl:Class HP:0007778 biolink:NamedThing Posterior retinal neovascularization A type of retinal neovascularization that affects the posterior pole of the retina. tmpxe7fu0cj_hp_relaxed.owl Neovascularization of peripheral and posterior retina|Posterior retinal neovascularisation UMLS:C4024803 human_phenotype owl:Class GO:0071495 biolink:NamedThing cellular response to endogenous stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. tmpxe7fu0cj_hp_relaxed.owl Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. mah 2009-12-18T02:25:40Z biological_process owl:Class HP:0030865 biolink:NamedThing Large elbow Abnormal increased size of the elbow joint. tmpxe7fu0cj_hp_relaxed.owl Prominent elbow UMLS:C4280737 owl:Class HP:0030549 biolink:NamedThing Unaided visual acuity 2.0 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073023 owl:Class HP:0031039 biolink:NamedThing Early spermatogenesis maturation arrest A type of maturation arrest in which only spermatogonia or spermatocytes are found. tmpxe7fu0cj_hp_relaxed.owl 2017-05-27 11:50:54+00:00 peter owl:Class HP:0030309 biolink:NamedThing Flared distal fibular metaphysis The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula. tmpxe7fu0cj_hp_relaxed.owl Flared outermost wide portion of of calf bone UMLS:C4022518 owl:Class HP:0007159 biolink:NamedThing Fluctuations in consciousness tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851959 human_phenotype owl:Class HP:0004910 biolink:NamedThing Bicarbonate-wasting renal tubular acidosis tmpxe7fu0cj_hp_relaxed.owl HCO3-wasting renal tubular acidosis|Renal bicarbonate wasting UMLS:C1858626 human_phenotype owl:Class CHEBI:74337 biolink:NamedThing D-asparagine zwitterion A D-alpha-amino acid zwitterion that is D-asparagine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl D-asparagine|(2R)-4-amino-2-ammonio-4-oxobutanoate|(2R)-4-amino-2-azaniumyl-4-oxobutanoate 0 C4H8N2O3 InChI=1S/C4H8N2O3/c5-2(4(8)9)1-3(6)7/h2H,1,5H2,(H2,6,7)(H,8,9)/t2-/m1/s1 DCXYFEDJOCDNAF-UWTATZPHSA-N 132.11790 132.05349 NC(=O)C[C@@H]([NH3+])C([O-])=O chebi_ontology owl:Class HP:0025685 biolink:NamedThing Increased amyloid beta 42 peptide CSF concentration An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0010782 biolink:NamedThing Shoulder dimple A subtype of skin dimples occurring in the shoulder region. tmpxe7fu0cj_hp_relaxed.owl Bi-acromial dimples|Shoulder dimples|Acromial dimple UMLS:C4023704 Symmetrical dimples of the skin overlying the acromial process of the scapulae are called bi-acromial dimples. peter 2010-04-30T11:36:51Z human_phenotype owl:Class HP:0032503 biolink:NamedThing Ameliorated by ethanol ingestion Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol). tmpxe7fu0cj_hp_relaxed.owl Ethanol reduces manifestations 2019-05-23 22:56:25+00:00 peter owl:Class HP:0001401 biolink:NamedThing Intrahepatic biliary dysgenesis tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859235 human_phenotype owl:Class HP:0500213 biolink:NamedThing Decreased CSF threonine concentration Abnormally decreased levels of threonine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Low threonine levels in the cerebrospinal fluid 2019-02-25 19:10:14+00:00 owl:Class HP:0032536 biolink:NamedThing Increased number of lymph nodes An abnormally elevated number of lymph nodes in an anatomical region. tmpxe7fu0cj_hp_relaxed.owl 2019-05-27 13:15:53+00:00 For example, lymphedema-distichiasis syndrome is characterized by an increased number of lymphatic vessels and inguinal lymph nodes. peter owl:Class HP:0012753 biolink:NamedThing T2 hypointense basal ganglia A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022743 peter 2014-03-30T06:52:42Z human_phenotype owl:Class HP:0033933 biolink:NamedThing Arcuate artery intima/media liquefactive necrosis A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. tmpxe7fu0cj_hp_relaxed.owl Liquefactive necrosis of the arcuate artery intima/media 2021-06-24 01:22:54+00:00 peter owl:Class HP:0000999 biolink:NamedThing Pyoderma Any manifestation of a skin disease associated with the production of pus. tmpxe7fu0cj_hp_relaxed.owl Pus-filled lesion SNOMEDCT_US:70759006|MSH:D011711|UMLS:C0034212 Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions. human_phenotype owl:Class HP:0012701 biolink:NamedThing Bowel urgency A sudden, irresistible need to have a bowel movement. tmpxe7fu0cj_hp_relaxed.owl Faecal urgency|Fecal urgency UMLS:C0426636|SNOMEDCT_US:71820002 peter 2014-03-22T06:22:14Z human_phenotype owl:Class HP:0012773 biolink:NamedThing Reduced upper to lower segment ratio Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1836996 A ratio of less than 0.86 (or according to other sources 0.89) is considered abnormally reduced. peter 2014-04-07T03:14:28Z owl:Class HP:0012344 biolink:NamedThing Morphea Isolated patches of hardened skin (scleroderma). tmpxe7fu0cj_hp_relaxed.owl MSH:D012594|SNOMEDCT_US:201049004|UMLS:C1527383 peter 2013-09-13T09:55:47Z human_phenotype owl:Class PATO:0001444 biolink:NamedThing broken A structural quality inhering in a bearer by virtue of the bearer's components no longer being in a single contiguous unit. tmpxe7fu0cj_hp_relaxed.owl fractured|split|hemorrhaged|fragmented|torn|cracked PATO:0001443|PATO:0001820 quality owl:Class HP:0032061 biolink:NamedThing Hypereosinophilia A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 11:54:44+00:00 peter owl:Class HP:0002711 biolink:NamedThing Exaggerated median tongue furrow Increased depth of the median tongue furrow. tmpxe7fu0cj_hp_relaxed.owl Deep central lingual groove|Deep median lingual groove|Exaggerated median lingual furrow|Deep central lingual furrow|Deep median tongue groove|Deep central tongue groove|Deep median lingual furrow|Deep central tongue furrow|Deep median tongue furrow UMLS:C1845109 human_phenotype owl:Class HP:0007187 biolink:NamedThing Focal lissencephaly A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855230 human_phenotype owl:Class HP:0030961 biolink:NamedThing Microspherophakia Lens of the eye is smaller than normal and spherically shaped. tmpxe7fu0cj_hp_relaxed.owl 2017-04-18 12:55:01+00:00 robinp owl:Class HP:0008075 biolink:NamedThing Progressive pes cavus The development of Pes cavus that is progressive with age. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1846017 human_phenotype owl:Class HP:0410388 biolink:NamedThing Decreased proportion of central memory CD4-positive, alpha-beta T cells A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. tmpxe7fu0cj_hp_relaxed.owl Decreased proportion of CD4+ central memory cells|Decreased proportion of central memory CD4+, alpha-beta T cell|Reduced proportion of CD4+ central memory cells|Decreased proportion of CD4-positive central memory cells An abnormally decreased proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype. HP:0025622 owl:Class HP:0006544 biolink:NamedThing Extrapulmonary sequestrum A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree. tmpxe7fu0cj_hp_relaxed.owl Diaphragmatic sequestrum UMLS:C4025023|UMLS:C4020814 Extrapulmonary sequestra nearly all appear on the left side. human_phenotype owl:Class CL:0011021 biolink:NamedThing fibroblast of upper back skin A fibroblast that is part of upper back skin. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0031881 biolink:NamedThing Decreased tear drainage A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct. tmpxe7fu0cj_hp_relaxed.owl 2018-05-06 15:54:22+00:00 peter owl:Class PATO:0000965 biolink:NamedThing symmetry A pattern quality of inhering in a bearer by virtue of the correspondence in size, shape, and relative position of the bearer's parts on opposite sides of a dividing line or median plane or about a center or axis. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class CL:0000506 biolink:NamedThing enkephalin secreting cell An endorphine cell that secretes enkephalin. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0031700 biolink:NamedThing Invasive parasitic infection A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 22:50:23+00:00 peter owl:Class HP:0010817 biolink:NamedThing Linear nevus sebaceous A type of nevus sebaceous with a linear form, raised borders and yellowish color. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:52298009|SNOMEDCT_US:707136009|SNOMEDCT_US:239112008|MSH:D054000|UMLS:C3854181 peter 2010-07-10T12:17:17Z human_phenotype owl:Class GO:0015807 biolink:NamedThing L-amino acid transport The directed movement of L-enantiomer amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0031340 biolink:NamedThing Abnormal lysosomal morphology A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 13:46:19+00:00 peter owl:Class HP:0011903 biolink:NamedThing HbH hemoglobin Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia. tmpxe7fu0cj_hp_relaxed.owl Haemoglobin H|HbH haemoglobin|Hemoglobin H UMLS:C3161174|SNOMEDCT_US:48553001 peter 2012-06-03T04:59:15Z human_phenotype owl:Class UBERON:0004940 biolink:NamedThing submucosa of common hepatic duct A submucosa that is part of a common hepatic duct [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl hepatic duct submucosa|common hepatic ductal submucosa|common hepatic duct submucosa|submucosa of hepatic duct FMA:18014 uberon owl:Class HP:0030559 biolink:NamedThing Best corrected visual acuity 0.7 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073032 owl:Class HP:0500081 biolink:NamedThing Pseudophakia The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL). tmpxe7fu0cj_hp_relaxed.owl 2018-02-26 20:00:29+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:4000038 biolink:NamedThing Infantile hydrocele Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 20:11:45+00:00 robinp owl:Class HP:0002100 biolink:NamedThing Recurrent aspiration pneumonia Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia. tmpxe7fu0cj_hp_relaxed.owl Recurrent pneumonia due to aspiration, UMLS:C0747651|SNOMEDCT_US:430969000 HP:0002106 owl:Class HP:0031864 biolink:NamedThing Bacteremia Presence of viable bacteria in the blood. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 21:13:44+00:00 peter owl:Class HP:0000640 biolink:NamedThing Gaze-evoked nystagmus Nystagmus made apparent by looking to the right or to the left. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:29356006|MSH:D009760|UMLS:C0271390 human_phenotype owl:Class HP:0025356 biolink:NamedThing Psychomotor retardation tmpxe7fu0cj_hp_relaxed.owl Psychomotor slowing|Psychomotor impairment|Motormental retardation 2017-02-17 11:43:42+00:00 A behavioral anomaly characterized by reduced mental and motor activity. Psychomotor retardation is a compound anomaly of behavior characterized by abnormalities of speech (Increased pauses, decreased volume, reduced articulation, reduced tone and infection, delayed response), eye movent (fized ganze and poor eye contact), gross movement (Decreased and/or slowed movement of hands, legs, torso, head), slumped posture, flat facial expression, and increased self-touching. HPO:probinson owl:Class HP:0005202 biolink:NamedThing Helicobacter pylori infection A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0850666 The bacterial pathogen Helicobacter pylori has co-evolved with humans and colonizes approximately half of the human population, but only causes overt gastric disease in a subset of infected hosts. human_phenotype owl:Class HP:0004822 biolink:NamedThing Atypical elliptocytosis tmpxe7fu0cj_hp_relaxed.owl MSH:C565598|UMLS:C1857010 human_phenotype owl:Class HP:0025635 biolink:NamedThing Ureteral polyp A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk. tmpxe7fu0cj_hp_relaxed.owl Polyp of the ureter|Ureter polyp 2019-04-26 17:44:45+00:00 NCIT:C4530 HPO:probinson owl:Class PR:000009127 biolink:NamedThing integrin alpha-IIb An integrin alpha lacking A domain that is a translation product of the human ITGA2B gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl ITGAB|GPalpha IIb|GP2B|CD41|platelet membrane glycoprotein IIb|ITGA2B|GPIIb IUPHARobj:2441 Category=gene. Requested by=CL. protein owl:Class HP:0030217 biolink:NamedThing Limb apraxia Difficulty in performing the correct execution of limbs movements in absence of motor impairment. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022574 owl:Class HP:0025008 biolink:NamedThing Tracheal tug on inspiration Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree. tmpxe7fu0cj_hp_relaxed.owl 2016-08-06 23:22:12+00:00 HPO:probinson owl:Class HP:0410293 biolink:NamedThing Absent isohemagglutinin level Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). tmpxe7fu0cj_hp_relaxed.owl Absent natural antibody to blood group agents|Complete or near-complete absence of isohemagglutinins 2019-01-28 21:29:11+00:00 owl:Class HP:0030224 biolink:NamedThing Abnormal muscle fiber desmin A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein. tmpxe7fu0cj_hp_relaxed.owl Abnormal muscle fibre desmin UMLS:C4022573 owl:Class HP:0410265 biolink:NamedThing Supraglottic hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords. tmpxe7fu0cj_hp_relaxed.owl 2018-10-30 01:49:01+00:00 owl:Class CL:0000438 biolink:NamedThing luteinizing hormone secreting cell A peptide hormone secreting cell pituitary that produces luteinizing hormone. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class CL:0000217 biolink:NamedThing insulating cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0005987 biolink:NamedThing Multinodular goiter Enlargement of the thyroid gland related to multiple nodules in the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl Multinodular goitre UMLS:C0342208|SNOMEDCT_US:237570007 human_phenotype owl:Class HP:0006121 biolink:NamedThing Acral ulceration A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1860099 HP:0005040|HP:0001226|HP:0001862 human_phenotype owl:Class HP:0020114 biolink:NamedThing Persistent human papillomavirus infection Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 20:54:37+00:00 robinp owl:Class HP:0030552 biolink:NamedThing Visual acuity light perception without projection tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073026 owl:Class HP:0034013 biolink:NamedThing Curvilinear pericallosal lipoma A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum. tmpxe7fu0cj_hp_relaxed.owl 2021-09-04 14:49:18+00:00 peter owl:Class GO:0038169 biolink:NamedThing somatostatin receptor signaling pathway The series of molecular signals generated as a consequence of a somatostatin receptor (SSTR) binding to one of its physiological ligands and transmitting the signal to a heterotrimeric G-protein complex. The pathway ends with regulation of a downstream cellular process, e.g. transcription. tmpxe7fu0cj_hp_relaxed.owl SST receptor signaling pathway|SSTR signaling pathway In addition to somatostatin (SST), the somatostatin receptors (SSTRs) can also be activated by the agonist cortistatin (CST). For signal transduction specifically initiated by the ligand somatostatin, consider instead annotating to the child term 'somatostatin signaling pathway ; GO:0038170'. bf 2012-06-12T10:30:01Z biological_process owl:Class HP:0025198 biolink:NamedThing Inflammatory cap polyp A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp. tmpxe7fu0cj_hp_relaxed.owl 2016-12-05 11:49:57+00:00 The condition inflammatory cap polyposis is characterized by the presence of multiple inflammatory cap polyps in the large intestine. HPO:probinson owl:Class HP:0006522 biolink:NamedThing Repeated pneumothoraces tmpxe7fu0cj_hp_relaxed.owl Repeated pneumothorax UMLS:C4025027 human_phenotype owl:Class HP:0006879 biolink:NamedThing Pontocerebellar atrophy Atrophy affecting the pons and the cerebellum. tmpxe7fu0cj_hp_relaxed.owl Cerebellopontine atrophy UMLS:C1853766 owl:Class HP:0030659 biolink:NamedThing Velamentous cord insertion Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0266789|SNOMEDCT_US:77278008 Velamentous cord insertion and an incidence of 1.1 percent of singleton births, and 8.7 to 16 percent of twin births. UToronto:chum owl:Class HP:0012182 biolink:NamedThing Oropharyngeal squamous cell carcinoma A squamous cell carcinoma that originates in the oropharnyx. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:423464009|UMLS:C0280313|SNOMEDCT_US:707585008 peter 2013-02-23T10:28:31Z owl:Class HP:0000808 biolink:NamedThing Penoscrotal hypospadias A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0452147|SNOMEDCT_US:204889008 human_phenotype owl:Class HP:0002688 biolink:NamedThing Absent frontal sinuses Aplasia of frontal sinus. tmpxe7fu0cj_hp_relaxed.owl Absent frontal sinus|Aplasia sinus frontalis|Absence of frontal sinuses|Missing frontal sinus|Aplasia of frontal sinus UMLS:C1855669|UMLS:C4280559 HP:0005452|HP:0005475 human_phenotype owl:Class HP:0031347 biolink:NamedThing Uterine arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 13:59:42+00:00 peter owl:Class PATO:0002049 biolink:NamedThing lateral and rotional curvature A curvature quality inhering in a bearer by virtue of the bearer's being curved around an axis and towards the side. tmpxe7fu0cj_hp_relaxed.owl 2009-03-13T12:36:14Z quality owl:Class PATO:0001787 biolink:NamedThing rotational curvature A curvature quality inhering in a bearer by virtue of the bearer's being curved around an axis. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0100333 biolink:NamedThing Unilateral cleft lip A non-midline cleft of the upper lip on one side only. tmpxe7fu0cj_hp_relaxed.owl One sided cleft upper lip|Unilateral cheiloschisis|Unilateral cleft upper lip UMLS:C0392006|SNOMEDCT_US:304067009 doelkens 2010-10-13T04:11:32Z HP:0100331 human_phenotype owl:Class HP:0031792 biolink:NamedThing Irregular astigmatism A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision. tmpxe7fu0cj_hp_relaxed.owl 2018-01-28 13:51:36+00:00 peter owl:Class HP:0003606 biolink:NamedThing Absent urinary urothione Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025591 Urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor. owl:Class HP:0033040 biolink:NamedThing Anti-Sm antibody positivity The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles. tmpxe7fu0cj_hp_relaxed.owl Anti-Smith autoantibody Anti-Sm-autoantibodies are highly specific for systemic lupus erythematosus (SLE). peter owl:Class HP:0008390 biolink:NamedThing Recurrent loss of toenails and fingernails Repeated loss, or shedding, of the nails of the fingers and toes. tmpxe7fu0cj_hp_relaxed.owl Recurrent shedding of toenails and fingernails|Recurrent loss of toenails and fingernails UMLS:C4021542 owl:Class HP:0030788 biolink:NamedThing Impacted cerumen Blockage of the external auditory canal by a buildup of earwax. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:18070006|UMLS:C0021092 owl:Class HP:0011828 biolink:NamedThing Midline sinus of philtrum Pit in the midline of the philtral groove. tmpxe7fu0cj_hp_relaxed.owl Central sinus of philtrum|Philtrum, Midline Sinus UMLS:C4021116 Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. peter 2012-05-01T10:36:55Z human_phenotype owl:Class HP:4000051 biolink:NamedThing Closed fracture A type of fracture in which the broken bone that does not penetrate the skin. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 20:55:09+00:00 robinp owl:Class HP:0011850 biolink:NamedThing Parotitis Inflammation of the parotid gland. tmpxe7fu0cj_hp_relaxed.owl MSH:D010309|SNOMEDCT_US:14756005|UMLS:C0030583 hecht 2012-05-21T10:33:44Z human_phenotype owl:Class HP:0033336 biolink:NamedThing Zygotic cleavage failure Failure of a fertilized oocyte to undergo the first round of cell division. tmpxe7fu0cj_hp_relaxed.owl Failure of zygotic cell division 2020-11-29 17:54:41+00:00 A zygote undergoes rapid cell divisions referred to as cleavage because they are not are not associated with significant growth of the embryo. The iniital round of cleavage forms a spherical ball of cells called the blastula, which then develops into a blastocyst. peter owl:Class HP:0002236 biolink:NamedThing Frontal upsweep of hair Upward and/or sideward growth of anterior hair. tmpxe7fu0cj_hp_relaxed.owl Cowlick|Frontal Cowlick|Upswept frontal hairline|Frontal upsweep of hair|Upswept frontal hair pattern|Upswept frontal hair UMLS:C1185616|UMLS:C3275754|UMLS:C2675540 human_phenotype owl:Class HP:0006129 biolink:NamedThing Drumstick terminal phalanges Rounding and broadening of the tufts of the distal phalanges. tmpxe7fu0cj_hp_relaxed.owl Drumstick shaped digital bones UMLS:C1844822 This designation is supposed to refer to the widening of the meaty end of a chicken drumstick (lower leg). human_phenotype owl:Class HP:0025172 biolink:NamedThing Smooth septal thickening on pulmonary HRCT Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa. tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 19:28:49+00:00 HPO:probinson owl:Class HP:0031865 biolink:NamedThing Abnormal liver physiology Any functional anomaly of the liver. tmpxe7fu0cj_hp_relaxed.owl Abnormal hepatic physiology 2018-05-05 21:20:15+00:00 peter owl:Class HP:0012668 biolink:NamedThing Vasovagal syncope tmpxe7fu0cj_hp_relaxed.owl Neurocardiogenic syncope|Reflex syncope|Situational syncope UMLS:C0042420|MSH:D013575|MSH:D019462|SNOMEDCT_US:234167006|SNOMEDCT_US:398665005|SNOMEDCT_US:398652001|UMLS:C0340854 peter 2014-02-15T01:33:13Z human_phenotype owl:Class HP:0008418 biolink:NamedThing Squared-off platyspondyly tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849051 human_phenotype owl:Class HP:0011303 biolink:NamedThing Convex contour of sole The contour of the foot in lateral profile has a convex shape. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023421 This term was established as the convex contour may occur without the prominent heel, which together comprise the bundled term Rocker-bottom foot. hecht 2012-02-12T11:06:12Z human_phenotype owl:Class HP:0011262 biolink:NamedThing Crimped helix Linear, circumferential indentation in the convexity of the outer surface of the helix. tmpxe7fu0cj_hp_relaxed.owl Helix, crimped|Indented helix UMLS:C4021178 The crimp is usually found in the middle third of the descending helix. The helix has the appearance of having been pinched or flattened along its posterior margin. The crimp may distort the free margin of the helix. peter 2011-12-18T06:19:33Z human_phenotype owl:Class GO:0010937 biolink:NamedThing regulation of cytoplasmic microtubule depolymerization Any process that modulates the frequency, rate or extent of cytoplasmic microtubule depolymerization. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0040185 biolink:NamedThing Macrothrombocytopenia tmpxe7fu0cj_hp_relaxed.owl Macrothrombozytopenia UMLS:C2751260 owl:Class HP:0012605 biolink:NamedThing Hypernatriuria An increased concentration of sodium(1+) in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urinary sodium UMLS:C3671887 peter 2014-01-16T06:22:44Z HP:0003608 human_phenotype owl:Class HP:0030214 biolink:NamedThing Hypersexuality Pathological persistent sexual disinhibiting behavior, directed at oneself or to others. tmpxe7fu0cj_hp_relaxed.owl Sex addiction SNOMEDCT_US:73744004|UMLS:C0312420|UMLS:C0679145 owl:Class HP:0008768 biolink:NamedThing Inappropriate sexual behavior tmpxe7fu0cj_hp_relaxed.owl Inappropriate sexual behaviour|Inappropriate sexual behavior UMLS:C0474420|SNOMEDCT_US:248099006 human_phenotype owl:Class HP:0033508 biolink:NamedThing EBV meningitis Inflammation of the meninges related to infection by Epstein-Barr virus. tmpxe7fu0cj_hp_relaxed.owl Epstein-Barr virus meningitis 2021-01-10 17:16:45+00:00 peter owl:Class HP:0500054 biolink:NamedThing Retinopathy of prematurity stage 4a A detachment that involves the peripheral retina that does not extend into the macula. tmpxe7fu0cj_hp_relaxed.owl ROP stage 4a 2018-02-19 18:56:37+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0011712 biolink:NamedThing Right bundle branch block A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. tmpxe7fu0cj_hp_relaxed.owl Right bundle-branch block UMLS:C0085615|MSH:D002037|SNOMEDCT_US:59118001 peter 2012-04-11T08:02:08Z human_phenotype owl:Class HP:0005831 biolink:NamedThing Type B brachydactyly tmpxe7fu0cj_hp_relaxed.owl MSH:C566196|UMLS:C1862112 human_phenotype owl:Class CHEBI:78125 biolink:NamedThing fatty acid anion 18:0 Any saturated fatty acid anion containing 18 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. tmpxe7fu0cj_hp_relaxed.owl fatty acid 18:0 -1 C18H35O2 283.46930 283.26371 [O-]C([*])=O chebi_ontology owl:Class HP:0045089 biolink:NamedThing Distinctive finding In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0006978 biolink:NamedThing Dysmyelinating leukodystrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C3278204 human_phenotype owl:Class HP:0006346 biolink:NamedThing Screwdriver-shaped incisors An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape. tmpxe7fu0cj_hp_relaxed.owl Screwdriver shaped front teeth|Screwdriver-shaped incisors UMLS:C4025058 owl:Class HP:0500170 biolink:NamedThing Abnormal concentration of acylcarnitine in the urine An abnormal amount of acylcarnitine in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-11-05 19:19:05+00:00 Combined, the total daily bile and urine production of acylcarnitine is <200 micromol. owl:Class HP:0011838 biolink:NamedThing Sclerodactyly Localized thickening and tightness of the skin of the fingers or toes. tmpxe7fu0cj_hp_relaxed.owl ICD-10:L94.3|UMLS:C0150988|SNOMEDCT_US:298285004|SNOMEDCT_US:201051000 peter 2012-05-06T10:04:27Z human_phenotype owl:Class HP:0010479 biolink:NamedThing Patent urachus Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus. tmpxe7fu0cj_hp_relaxed.owl Persistent urachus SNOMEDCT_US:398316009|UMLS:C0266357 peter 2009-09-15T10:15:17Z human_phenotype owl:Class HP:0033397 biolink:NamedThing Bowman-space proteinaceous debris The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 14:24:54+00:00 peter owl:Class UBERON:0009580 biolink:NamedThing diencephalon mantle layer tmpxe7fu0cj_hp_relaxed.owl mantle layer lateral wall diencephalon|diencephalon lateral wall mantle layer VHOG:0000912|EHDAA2:0000397|EMAPA:16906 uberon owl:Class MPATH:608 biolink:NamedThing abscess A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation. tmpxe7fu0cj_hp_relaxed.owl Generally occur following damage or infection with subsequent inflammatory response. Result of the body`s defensive reaction to foreign material. mouse_pathology.ontology owl:Class CHEBI:23905 biolink:NamedThing monoatomic anion tmpxe7fu0cj_hp_relaxed.owl monoatomic anions chebi_ontology owl:Class HP:0031544 biolink:NamedThing Elevated circulating palmitoleylcarnitine concentration An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency. tmpxe7fu0cj_hp_relaxed.owl Elevated propionylcarnitine level|Elevated plasma palmitoleylcarnitine, C16:1|Elevated circulating O-propionylcarnitine concentration|Elevated plasma propionylcarnitine, C3:0 2017-09-24 01:57:19+00:00 peter HP:0033463 owl:Class NCBITaxon:436492 biolink:NamedThing Coelurosauria tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0012322 biolink:NamedThing Perifolliculitis Inflammation surrounding hair follicles. tmpxe7fu0cj_hp_relaxed.owl Perifollicular inflammation SNOMEDCT_US:83341004|UMLS:C0263006 peter 2013-08-11T09:25:58Z human_phenotype owl:Class UBERON:0006535 biolink:NamedThing skin secretion A portion of organism substance that secreted_by a zone of skin. tmpxe7fu0cj_hp_relaxed.owl skin fluid/secretion|skin substance|skin fluid MA:0002537 uberon owl:Class HP:0031975 biolink:NamedThing Increased vertical cup-to-disc ratio - 0.7 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3). tmpxe7fu0cj_hp_relaxed.owl 2018-07-08 00:15:02+00:00 peter owl:Class HP:0002959 biolink:NamedThing Impaired Ig class switch recombination An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE. tmpxe7fu0cj_hp_relaxed.owl Impaired B-lymphocyte isotype switching UMLS:C1842528 The generation of the antibody repertoire requires two successive steps. The first is antigen- and T-cell-independent; it takes place in the fetal liver and the bone marrow. Immature B lymphocytes rearrange their immunoglobulin-gene variable segments (V segments), diversity segments (D segments) and joining segments (J segments), producing a functionally integrated VDJ segment linked to the mu constant region (C-mu), which determines the primary antibody repertoire composed of IgM antibodies. The second step is antigen- and T-cell-dependent and takes place in secondary lymphoid organs. After encountering antigen, B cells proliferate and form germinal centers. In this unique anatomic formation, two genetic events lead to generation of the secondary antibody repertoire: class-switch recombination (CSR) and somatic hypermutation (SHM). CSR of immunoglobulins occurs by a recombination process between two different switch regions (S regions) located upstream of each C region. Replacement of C-mu by a constant region of another class of immunoglobulin (C-gamma, C-alpha or C-epsilon) ensues and leads to the production of IgG, IgA or IgE. human_phenotype owl:Class HP:0040150 biolink:NamedThing Epiblepharon of upper lid tmpxe7fu0cj_hp_relaxed.owl MSH:C565051|UMLS:C1851582 HPO:skoehler owl:Class HP:0004960 biolink:NamedThing Absent pulmonary artery A congenital defect with aplasia (absence) of one of the right or left pulmonary artery. tmpxe7fu0cj_hp_relaxed.owl Absent lung artery|Missing pulmonary artery UMLS:C0265905|SNOMEDCT_US:86252004 This is a rare feature that has been observed in recessive lethal osteogenesis imperfecta with mutation in CRTAP. human_phenotype owl:Class HP:0033065 biolink:NamedThing Mild albuminuria The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol). tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0031681 biolink:NamedThing Type III atherosclerotic lesion Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 17:33:15+00:00 peter owl:Class HP:0005723 biolink:NamedThing Shoe-shaped sella turcica tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025147 human_phenotype owl:Class HP:0006443 biolink:NamedThing Patellar aplasia Absence of the patella. tmpxe7fu0cj_hp_relaxed.owl Aplastic patellae|Absent kneecap|Absent patellas|Absent patellae|Absent patella UMLS:C1868578 HP:0006475|HP:0003046 human_phenotype owl:Class UBERON:0011050 biolink:NamedThing thoracic vertebra 8 The eighth thoracic vertebra counting from the top down. Note that members of this class are not necessarily homologous[ncit,modified]. tmpxe7fu0cj_hp_relaxed.owl eighth thoracic vertebra|T8 vertebra|eighth dorsal vertebra NCIT:C33730|MA:0001445|FMA:9991|EMAPA:19549|UMLS:C0459953 uberon owl:Class HP:0033916 biolink:NamedThing Medial/intimal arcuate venosclerosis Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 23:19:47+00:00 peter owl:Class HP:4000022 biolink:NamedThing Anti-laminin 6 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 14:31:25+00:00 robinp owl:Class HP:0012744 biolink:NamedThing Femoral aplasia Failure of the femur to develop. tmpxe7fu0cj_hp_relaxed.owl Absent thighbone|Aplasia of the femur|Absent femur UMLS:C0265629|SNOMEDCT_US:47276000 peter 2014-03-23T05:14:34Z human_phenotype owl:Class HP:0100695 biolink:NamedThing Lipedema Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise . tmpxe7fu0cj_hp_relaxed.owl MSH:D065134|SNOMEDCT_US:234102003|UMLS:C0398370 The pattern of fat deposition is most often bilateral, symmetrical and usually from the waist to a distinct line just above the ankles. doelkens 2011-03-28T04:43:32Z human_phenotype owl:Class HP:0030652 biolink:NamedThing Vitreous haze Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073113 owl:Class HP:0033507 biolink:NamedThing Decreased esterified to free carnitine ratio A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 15:13:37+00:00 peter owl:Class HP:0020125 biolink:NamedThing Spontaneous conjunctival filtering bleb Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma. tmpxe7fu0cj_hp_relaxed.owl Conjunctival avascular cysts (filtering blebs)|Spontaneous filtering bleb robinp 2019-07-02 22:49:55+00:00 owl:Class HP:0032007 biolink:NamedThing Maceration A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue. tmpxe7fu0cj_hp_relaxed.owl Maceration of the skin|Skin maceration 2018-07-17 13:09:36+00:00 peter owl:Class HP:0011854 biolink:NamedThing Hemoperitoneum Accumulation of blood in the peritoneal cavity owing to internal hemorrhage. tmpxe7fu0cj_hp_relaxed.owl Hematoperitoneum SNOMEDCT_US:443826006|MSH:D006465|UMLS:C0019065|UMLS:C0744735|SNOMEDCT_US:45626005 hecht 2012-05-21T10:55:34Z human_phenotype owl:Class CHEBI:25798 biolink:NamedThing oxopentanoates The conjugate base of any oxopentanoic acid. tmpxe7fu0cj_hp_relaxed.owl oxopentanoate 0 C5H7O3 115.107 115.03952 chebi_ontology owl:Class HP:0030693 biolink:NamedThing Supratentorial neoplasm A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli. tmpxe7fu0cj_hp_relaxed.owl Pineal parenchymal tumor|Pineal parenchymal tumour MSH:D015173|SNOMEDCT_US:127026004|NCIT:C3328|UMLS:C0038874|SNOMEDCT_US:47598005|MSH:D010871|UMLS:C0031941|SNOMEDCT_US:359619007 This represents a group of related tumours ranging from the relatively benign to the highly malignant. owl:Class HP:0012217 biolink:NamedThing Increased urinary porphobilinogen Increased concentration of porphobilinogen in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023000 Increased porphobilinogen (PBG) in urine is pathognomonic of an attack of acute porphyria (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria); the absence of increased urinary PBG in a suspected attack excludes the diagnosis. peter 2013-03-30T06:45:01Z owl:Class HP:0004630 biolink:NamedThing Anterior beaking of thoracic vertebrae Anterior tongue-like protrusions of thoracic vertebral bodies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025302 human_phenotype owl:Class HP:0032155 biolink:NamedThing Abdominal cramps A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity. tmpxe7fu0cj_hp_relaxed.owl 2018-12-02 14:21:11+00:00 peter owl:Class HP:0007777 biolink:NamedThing Chorioretinal scar Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:53854005|UMLS:C0008512 human_phenotype owl:Class HP:0033783 biolink:NamedThing Molar incisor malformation Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars. tmpxe7fu0cj_hp_relaxed.owl 2021-05-07 10:32:47+00:00 MIM affects one or more roots of deciduous second molars and permanent first molars. Permanent maxillary central incisors may also be affected. The diagnosis requires clinical and radiographic examinations. peter owl:Class HP:0030364 biolink:NamedThing Secondary Caesarian section Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072904 owl:Class HP:0011142 biolink:NamedThing Age-related nuclear cataract A type of age-related cataract that primarily affects the nucleus of the lens. tmpxe7fu0cj_hp_relaxed.owl MSH:C563333|UMLS:C1832423 As the lens ages, new layers of fibres are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly. peter 2011-06-27T09:49:20Z human_phenotype owl:Class HP:0005267 biolink:NamedThing Premature delivery because of cervical insufficiency or membrane fragility tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851808 human_phenotype owl:Class PATO:0002143 biolink:NamedThing sloped downward tmpxe7fu0cj_hp_relaxed.owl 2009-10-30T02:18:39Z quality owl:Class HP:0032624 biolink:NamedThing Intratubular bilirubin casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0100019 biolink:NamedThing Cortical cataract A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:193576003|UMLS:C0271160 doelkens 2010-05-28T11:35:33Z HP:0007876 human_phenotype owl:Class HP:0034141 biolink:NamedThing Anti-SUMO-activating enzyme subunit 2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2. tmpxe7fu0cj_hp_relaxed.owl Anti-SAE 2 antibody positivity 2021-12-23 13:34:27+00:00 peter owl:Class HP:0032275 biolink:NamedThing Recurrent shingles Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 21:15:51+00:00 peter owl:Class HP:0500061 biolink:NamedThing Retinopathy of prematurity zone III Retinopathy which is a residual crescent of retina anterior to zone II. tmpxe7fu0cj_hp_relaxed.owl ROP zone III 2018-02-19 19:53:11+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0005416 biolink:NamedThing Decreased serum complement factor B A reduced level of the complement component factor B in circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased serum factor b UMLS:C4021636 human_phenotype owl:Class HP:0010921 biolink:NamedThing Coralliform cataract A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1392104 peter 2010-12-12T12:16:28Z human_phenotype owl:Class HP:0012826 biolink:NamedThing Moderate Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:446421000124109|UMLS:C0205081|SNOMEDCT_US:6736007 PATO:0000395, moderate. peter 2014-06-06T06:48:12Z human_phenotype owl:Class HP:0004395 biolink:NamedThing Malnutrition A deficiency in the intake of energy and nutrients. tmpxe7fu0cj_hp_relaxed.owl Malnutrition SNOMEDCT_US:70241007|MSH:D044342|UMLS:C0162429|SNOMEDCT_US:248325000|SNOMEDCT_US:65404009|SNOMEDCT_US:2492009|SNOMEDCT_US:47563007 peter 2008-03-18T09:12:00Z owl:Class HP:0032030 biolink:NamedThing Lateral canthal tendon laxity Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. tmpxe7fu0cj_hp_relaxed.owl 2018-09-01 14:49:57+00:00 peter owl:Class HP:0030213 biolink:NamedThing Emotional blunting Lack of emotional reactivity and empathy for situations or persons, sometime also for family members. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0233469|SNOMEDCT_US:6140007 owl:Class HP:0012662 biolink:NamedThing Parietal hypometabolism in FDG PET Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022794 Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the parietal cortex. peter 2014-02-15T11:45:41Z human_phenotype owl:Class HP:0033789 biolink:NamedThing Triggered by cheese ingestion Applies to a sign or symptom that is provoked or brought about by eating cheese. tmpxe7fu0cj_hp_relaxed.owl 2021-05-07 11:11:07+00:00 Cheese contains tyramine, which is thought to be responsible for tachycardia and hypertension that can be tirggered by eating cheese in persons with Trimethylaminuria. peter owl:Class HP:0009754 biolink:NamedThing Fibrous syngnathia Complete or nearly complete soft tissue fusion of the alveolar ridges. tmpxe7fu0cj_hp_relaxed.owl Alveolar synechiae|Fusion of the alveolar ridges UMLS:C4021392 This finding is associated with severely reduced mobility, or lack of mobility, between the upper and lower jaws. This finding is the severe end of a spectrum that includes oral synechiae. peter 2009-01-31T08:50:29Z human_phenotype owl:Class HP:0025716 biolink:NamedThing Fetal anemia Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery. tmpxe7fu0cj_hp_relaxed.owl Fetal anemia has been known for many years as a dangerous complication of pregnancy. Its most common causes are maternal alloimmunization and parvovirus B19 infection, although it can be associated with many different pathological conditions including fetal aneuploidies, vascular tumors, and arteriovenous malformations of the fetus or placenta and inherited conditions such as alpha-thalassemia or genetic metabolic disorders. Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery for the diagnosis of fetal anemia and intravascular intrauterine transfusion for its treatment are the current practice standards. peterrobinson owl:Class HP:0033497 biolink:NamedThing Tip variant segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. tmpxe7fu0cj_hp_relaxed.owl Segmental glomerulosclerosis, tip variant 2021-01-10 13:27:31+00:00 peter owl:Class HP:0007984 biolink:NamedThing Electronegative electroretinogram A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3). tmpxe7fu0cj_hp_relaxed.owl Reduced amplitude of dark-adapted bright flash electroretinogram b-wave|Reduced electroretinogram rod b-wave|Electronegative ERG|Electroretinogram: reduced b-wave amplitude|Reduced ERG amplitude of b-wave UMLS:C4021561 Flashes will elicit an a-wave with an initial negative deflection followed by a b-wave with positive deflection. This feature refers to a reduction in the amplitude primarily of the b-wave. human_phenotype owl:Class HP:0008456 biolink:NamedThing C2-C3 subluxation A partial dislocation of the intervertebral joint between the second and third cervical vertebrae. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2678323 human_phenotype owl:Class HP:0003933 biolink:NamedThing Sclerosis of humeral diaphysis tmpxe7fu0cj_hp_relaxed.owl Increased bone density in shaft of long bone in upper arm UMLS:C4025496 human_phenotype owl:Class HP:0033011 biolink:NamedThing Platystencephaly Extreme width of the skull in the occipital region, with anterior narrowing and prognathism. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0010804 biolink:NamedThing Tented upper lip vermilion Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. tmpxe7fu0cj_hp_relaxed.owl Inverted V-shaped upper lip|Tented upper lip|Tented mouth UMLS:C1853383|UMLS:C1839767|UMLS:C1850072 This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture. peter 2010-06-26T02:32:35Z HP:0100895 human_phenotype owl:Class GO:0007567 biolink:NamedThing parturition The reproductive process in which the parent is separated from its offspring either by giving birth to live young or by laying eggs. tmpxe7fu0cj_hp_relaxed.owl egg laying|giving birth biological_process owl:Class HP:0030558 biolink:NamedThing Best corrected visual acuity 0.5 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073031 owl:Class HP:0012617 biolink:NamedThing Erythrocyte cylindruria Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. tmpxe7fu0cj_hp_relaxed.owl Urinary erythrocyte cast|Red blood cell casts UMLS:C4022818 peter 2014-01-17T12:06:50Z human_phenotype owl:Class HP:0030905 biolink:NamedThing Snout reflex A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0031682 biolink:NamedThing Type V atherosclerotic lesion Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 17:38:22+00:00 peter owl:Class HP:0500091 biolink:NamedThing Lymphangioma of the orbit A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage. tmpxe7fu0cj_hp_relaxed.owl 2018-03-27 14:55:41+00:00 owl:Class PATO:0000320 biolink:NamedThing green A color hue with medium-low wavelength of that portion of the visible spectrum lying between yellow and blue, evoked in the human observer by radiant energy with wavelengths of approximately 490 to 570 nanometers. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0030593 biolink:NamedThing Abnormal manual kinetic perimetry test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073065 owl:Class HP:0000325 biolink:NamedThing Triangular face Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. tmpxe7fu0cj_hp_relaxed.owl Face with broad temples and narrow chin|Triangular facial shape|Triangular face|Triangular facies UMLS:C1835884 HP:0004645|HP:0004668|HP:0004662 human_phenotype owl:Class MPATH:201 biolink:NamedThing vasculitis Inflammation of a blood vessel. tmpxe7fu0cj_hp_relaxed.owl phlebitis|lymphangiitis|angiitis|arteritis George Gkoutos mouse_pathology.ontology owl:Class HP:0032366 biolink:NamedThing Positive direct antiglobulin test A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction. tmpxe7fu0cj_hp_relaxed.owl 2019-02-23 17:43:12+00:00 The DAT is a method used to detect immunoglobulin or complement bound in vivo to RBCs, using anti-human reagents. There are 3 different reagents that may be used: monospecific reagents to detect either bound immunoglobulin G (IgG) or bound complement (C3) and polyspecific reagents that can simultaneously detect IgG and/or C3. In screening of RBCs for the presence of bound globulins and/or C3, many laboratories may choose to use the polyspecific reagent initially (ie, as a screen for any bound IgG and/or complement) and, if positive, subsequently use monospecific reagents to specifically distinguish what is bound to the RBC surface. peter owl:Class HP:0025451 biolink:NamedThing Testicular adrenal rest tumor Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. tmpxe7fu0cj_hp_relaxed.owl Testicular adrenal rest tumour 2017-05-04 10:21:37+00:00 HPO:probinson owl:Class HP:0005278 biolink:NamedThing Hypoplastic nasal tip tmpxe7fu0cj_hp_relaxed.owl Small tip of nose|Underdevelopment of nasal tip|Aplasia of nasal tip|Hypotrophic nasal tip|Deficient nasal tip|Decreased size of tip of nose|Small nasal tip|Underdevelopment of tip of nose|Hypoplasia of tip of nose|Hypotrophic tip of nose|Decreased size of nasal tip UMLS:C1844731|UMLS:C4280497|UMLS:C4280496 human_phenotype owl:Class HP:0002877 biolink:NamedThing Nocturnal hypoventilation An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide. tmpxe7fu0cj_hp_relaxed.owl Hypoventilation during sleep|Nocturnal slow breathing|Nocturnal hypopnea|Nocturnal under breathing UMLS:C1843643 owl:Class HP:0025677 biolink:NamedThing Fetal chylothorax The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus. tmpxe7fu0cj_hp_relaxed.owl Fetal chylothorax is associated with a high mortality rate. The most serious consequences of fetal chylothorax are pulmonary hypoplasia, congestive heart failure, and hydrops. It may occur as an isolated disorder or as a feature of diseases such as trisomy 21, Turner syndrome, and Noonan syndrome. Chylous pleural effusion impairs normal development of fetal lungs by pressure effects and can lead to pulmonary hypoplasia, mediastinal shift, and impaired circulation. peterrobinson owl:Class HP:0004285 biolink:NamedThing Overmodelled hand bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025371 human_phenotype owl:Class HP:0011696 biolink:NamedThing Supraventricular tachycardia with a manifest accessory pathway on the left free wall tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023226 peter 2012-04-10T10:57:34Z human_phenotype owl:Class HP:0003140 biolink:NamedThing T-wave inversion in the right precordial leads tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025646 human_phenotype owl:Class HP:0025430 biolink:NamedThing High-pitched cry A type of crying in an abnormally high-pitched voice. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 12:59:43+00:00 This type of cry may be observed with cerebral irritability due to factors such as meningitis, hydrocephalus, or kernicterus. High-pitched cry may also be observed with other conditions including Cornelia-de-Lange syndrome. HPO:probinson owl:Class HP:0011459 biolink:NamedThing Esophageal carcinoma The presence of a carcinoma of the esophagus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0152018|SNOMEDCT_US:372138000 peter 2012-03-25T06:55:07Z human_phenotype owl:Class CL:0000397 biolink:NamedThing ganglion interneuron tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0032273 biolink:NamedThing Increased circulating N-Acetylaspartic acid concentration An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased circulating N-acetyl-L-aspartic acid level|Increased circulating N-acetyl aspartic acid level|Increased circulating N-acetyl aspartate level|Increased circulating N-acetylaspartate level|Increased circulating NAA level 2019-01-27 21:06:29+00:00 peter owl:Class HP:0033380 biolink:NamedThing Nasal chondritis Inflammation of the cartilage of the nose. tmpxe7fu0cj_hp_relaxed.owl Nose chondritis 2020-12-23 14:31:16+00:00 peter owl:Class HP:0012877 biolink:NamedThing Retrograde ejaculation The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0403673|SNOMEDCT_US:50112006 hecht 2014-06-09T11:25:24Z human_phenotype owl:Class HP:0030268 biolink:NamedThing Hyperplastic callus formation Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022548 owl:Class HP:0033723 biolink:NamedThing Abnormal cerebral venous sinus morphology Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins. tmpxe7fu0cj_hp_relaxed.owl Abnormality of the cerebral venous sinuses|Abnormal dural venous sinus morphology 2021-04-07 16:31:35+00:00 peter owl:Class HP:0012342 biolink:NamedThing Macroprolactinoma A pituitary prolactin cell adenoma of more than 10 mm diameter. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0344453|SNOMEDCT_US:253011004|MSH:D015175 peter 2013-09-13T09:50:29Z human_phenotype owl:Class HP:0033576 biolink:NamedThing Anti-H2B antibody positivity The presence of autoantibodies in the blood circulation that react against histone H2B. tmpxe7fu0cj_hp_relaxed.owl 2021-01-24 13:58:22+00:00 peter owl:Class HP:0000896 biolink:NamedThing Rib exostoses Multiple circumscribed bony excrescences located in the ribs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1835579 human_phenotype owl:Class NCBITaxon:6237 biolink:NamedThing Caenorhabditis tmpxe7fu0cj_hp_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0033742 biolink:NamedThing Intrarenal reflux Severe vesicoureteral reflux reaching the kidney parenchyma. tmpxe7fu0cj_hp_relaxed.owl 2021-04-16 14:19:01+00:00 peter owl:Class HP:0010963 biolink:NamedThing Absence of stomach bubble on fetal sonography By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation. tmpxe7fu0cj_hp_relaxed.owl Absence of stomach bubble on foetal sonography UMLS:C4023625 The absence of stomach bubble on fetal sonography can be an indication of malformations such as esophageal atresia, especially in combination with polyhydramnios. peter 2011-01-18T12:45:41Z owl:Class HP:0032577 biolink:NamedThing Clonal T cell receptor rearrangement Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032672 biolink:NamedThing Autonomic status epilepticus Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal. tmpxe7fu0cj_hp_relaxed.owl Autonomic disturbances may include tachycardia, cardiac arrhythmia, hypertension, high fever, salivation, vomiting and incontinence. peter owl:Class HP:0031445 biolink:NamedThing Oral mucosa nodule A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 14:16:57+00:00 peter owl:Class HP:0007838 biolink:NamedThing Progressive ptosis A progressive form of ptosis. tmpxe7fu0cj_hp_relaxed.owl Progressive drooping of upper eyelid UMLS:C1834015 human_phenotype owl:Class HP:0030808 biolink:NamedThing Ragged cuticle The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280756 owl:Class HP:0020127 biolink:NamedThing Periarticular soft-tissue mass A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. tmpxe7fu0cj_hp_relaxed.owl The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. robinp 2019-07-03 17:35:14+00:00 owl:Class HP:0000687 biolink:NamedThing Widely spaced teeth Increased spaces (diastemata) between most of the teeth in the same dental arch. tmpxe7fu0cj_hp_relaxed.owl Generalized dental spacing|Generalised spacing of teeth|Widely spaced teeth|Generalized spacing of teeth|Multiple diastemata|Generalised dental spacing|Widely-spaced teeth|Wide-spaced teeth UMLS:C1844813 Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema. human_phenotype owl:Class HP:0006040 biolink:NamedThing Long second metacarpal tmpxe7fu0cj_hp_relaxed.owl Long 2nd long bone of hand UMLS:C1861531 human_phenotype owl:Class HP:0040321 biolink:NamedThing Dark yellow urine An abnormal dark-yellow color of the urine. tmpxe7fu0cj_hp_relaxed.owl http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean ORCID:0000-0002-5316-1399 owl:Class HP:0011714 biolink:NamedThing Libman-Sacks lesions Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023221 Libman-Sacks lesions are y typical manifestation of systemic lupus erythematosus. peter 2012-04-11T10:11:39Z human_phenotype owl:Class HP:0033066 biolink:NamedThing Severe albuminuria The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol). tmpxe7fu0cj_hp_relaxed.owl Heavy albuminuria peter owl:Class HP:0032347 biolink:NamedThing Cutaneous macular amyloidosis A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern. tmpxe7fu0cj_hp_relaxed.owl Macular amyloidosis 2019-02-23 16:26:56+00:00 Two types of keratotic amyloidosis have been identified: macular and lichen amyloidosis, and the latter is more common. In keratotic amyloidosis, keratin depositions originating from basal keratinocyte are mainly CK5 positive. peter owl:Class HP:0410218 biolink:NamedThing Hypoplasia of maxilla relative to mandible Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw). tmpxe7fu0cj_hp_relaxed.owl Disorder of maxillary and mandibular dental arch relationship 2018-09-25 00:46:15+00:00 owl:Class HP:0032286 biolink:NamedThing Ultra-low vision with retained light perception Ultra-low vision but with retained ability to perceive the difference between light and dark. tmpxe7fu0cj_hp_relaxed.owl 2019-02-10 13:54:32+00:00 peter owl:Class HP:0001981 biolink:NamedThing Schistocytosis The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. tmpxe7fu0cj_hp_relaxed.owl Schistocytes UMLS:C0344386|SNOMEDCT_US:385472000 human_phenotype owl:Class HP:0032225 biolink:NamedThing Perifollicular fibroma Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle. tmpxe7fu0cj_hp_relaxed.owl 2019-01-26 14:14:55+00:00 Multiple Perifollicular fibroma (PFF) lesions have been linked to adenomatous colonic polyps and they may be inherited as an autosomal dominant trait. Most reports have described multiple PFF lesions involving the scalp. peter owl:Class HP:0032352 biolink:NamedThing Methioninuria Increased level of methionine in urine. tmpxe7fu0cj_hp_relaxed.owl 2019-02-23 16:48:53+00:00 peter owl:Class HP:0034044 biolink:NamedThing Trident pelvis Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident. tmpxe7fu0cj_hp_relaxed.owl Trident sign 2021-10-15 14:26:57+00:00 This sign is seen in achondroplasia, Jeune's asphyxiating thoracic dystrophy, Ellis-van Creveld syndrome, and thanatophoric dysplasia. See Figures 2 and 4A in PMID:28744080. peter owl:Class HP:0040280 biolink:NamedThing Obligate Always present, i.e. in 100% of the cases. tmpxe7fu0cj_hp_relaxed.owl Obligate (100%) ORPHA:453310 ORCID:0000-0002-5316-1399 owl:Class HP:0033877 biolink:NamedThing Arcuate vein intraluminal thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney. tmpxe7fu0cj_hp_relaxed.owl Intraluminal thrombi within arcuate veins 2021-06-23 19:29:12+00:00 peter owl:Class HP:0032657 biolink:NamedThing Elevated circulating lyso-globotriaosylsphingosine concentration An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Fabry disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A that affects males and shows disease expression in heterozygotes. Lysosomal accumulation of its substrate globotriaosylceramide (Gb3) that is prominent in endothelial cells is thought to cause the progressive renal insufficiency, cardiac involvement, and CNS pathology in Fabry patients. Plasma Lyso-Gb3 is considered to be a biomarker for Fabry disease. peter owl:Class HP:0034112 biolink:NamedThing Anti-GM1 IgG antibody positivity The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:22:13+00:00 peter owl:Class HP:0005201 biolink:NamedThing Anomalous splenoportal venous system tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025236 human_phenotype owl:Class HP:0007514 biolink:NamedThing Edema of the dorsum of hands An abnormal accumulation of fluid beneath the skin on the back of the hands. tmpxe7fu0cj_hp_relaxed.owl Oedema of the dorsum of hands|Edema of dorsum of hands|Oedema of dorsum of hands MEDDRA:10058204|SNOMEDCT_US:443710002|UMLS:C2751873|UMLS:C2732374 HP:0007528 human_phenotype owl:Class HP:0032593 biolink:NamedThing Myoglobin casts A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0034089 biolink:NamedThing Anti-B23 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 02:38:34+00:00 peter owl:Class HP:0007737 biolink:NamedThing Bone spicule pigmentation of the retina Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). tmpxe7fu0cj_hp_relaxed.owl Retinal bone corpuscle pigmentation|Retinal pigmented bone spicules|Retinal 'bone corpuscle' pigmentation|Bone corpuscle fundus pigmentation|Fundus with peripheral bony spicules UMLS:C1836926 HP:0007644|HP:0007823|HP:0007683 human_phenotype owl:Class HP:0030099 biolink:NamedThing Reduced muscle fiber alpha dystroglycan Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. tmpxe7fu0cj_hp_relaxed.owl Reduced muscle fibre alpha dystroglycan UMLS:C4022646 owl:Class HP:0012396 biolink:NamedThing Biliary dyskinesia A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0005416|MSH:D001657|SNOMEDCT_US:197432008 peter 2013-11-07T07:56:55Z human_phenotype owl:Class HP:0034126 biolink:NamedThing Anti-GD1b IgG antibody positivity The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:48:28+00:00 peter owl:Class HP:0033146 biolink:NamedThing Elevated circulating methylsuccinic acid concentration Increased concentration of methylsuccinic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-09-19 11:29:53+00:00 peter owl:Class HP:0410340 biolink:NamedThing Focal epithelial hyperplasia of oral mucosa The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate. tmpxe7fu0cj_hp_relaxed.owl Focal epithelial hyperplasia of the lining of mouth|Oral mucosa epithelial hyperplasia owl:Class HP:0033356 biolink:NamedThing Elevated circulating o-phosphoserine concentration An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine. tmpxe7fu0cj_hp_relaxed.owl 2020-12-01 12:16:14+00:00 peter owl:Class HP:0008527 biolink:NamedThing Congenital sensorineural hearing impairment A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. tmpxe7fu0cj_hp_relaxed.owl Bilateral congenital sensorineural deafness|Congenital neurosensory deafness|Congenital perceptive deafness|Congenital sensorineural deafness|Congenital sensorineural hearing loss|Hearing loss, congenital sensorineural SNOMEDCT_US:700453005|UMLS:C1865866 HP:0008521|HP:0008543|HP:0008561|HP:0004457|HP:0008612|HP:0008556|HP:0008520|HP:0008546|HP:0008571|HP:0008620|HP:0004455|HP:0008603|HP:0008540|HP:0008558|HP:0008545 human_phenotype owl:Class HP:0005274 biolink:NamedThing Prominent nasal tip tmpxe7fu0cj_hp_relaxed.owl Bulbous tip of nose|Large tip of nose|Pronounced tip of nose|Hyperplasia of nasal tip|Pronounced nasal tip|Hyperplasia of tip of nose|Prominent nasal tip|Hypertrophy of nasal tip|Large nasal tip|Prominent tip of nose|Hypertrophy of tip of nose UMLS:C4280500|UMLS:C4280498|UMLS:C1856118|UMLS:C4280499 human_phenotype owl:Class HP:0002571 biolink:NamedThing Achalasia A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. tmpxe7fu0cj_hp_relaxed.owl Achalasia of the esophagus|Achalasia of the oesophagus MSH:D004931|UMLS:C0014848|MEDDRA:10030136|SNOMEDCT_US:45564002 Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing. human_phenotype owl:Class HP:0025631 biolink:NamedThing Alpha-aminobutyric aciduria Increased amount of alpha-aminobutyric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 01:21:25+00:00 HPO:probinson owl:Class HP:0033751 biolink:NamedThing Elevated functional residual capacity An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation. tmpxe7fu0cj_hp_relaxed.owl 2021-04-21 15:49:55+00:00 peter owl:Class HP:0010749 biolink:NamedThing Blepharochalasis Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. tmpxe7fu0cj_hp_relaxed.owl Saggy upper eyelid skin UMLS:C0005742|SNOMEDCT_US:47704002 Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. Most of these atrophic patients do not go through a hypertrophic phase. Multiple attacks of eyelid edema result in thinning, stretching, and atrophy of eyelid tissues. The eyelid skin becomes redundant, discolored, and atrophic, appearing like wrinkled cigarette paper. The upper eyelids are more commonly affected, but the lower eyelids may also be involved. Blepharochalasis is not synonymous with dermatochalasis. sdoelken 2010-04-23T09:53:13Z human_phenotype owl:Class HP:0033538 biolink:NamedThing Aortic annulus calcification Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract. tmpxe7fu0cj_hp_relaxed.owl Aortic annular calcification 2021-01-20 12:07:10+00:00 Anatomically, the aortic annulus (AA) is a complex 3-dimensional (3D) crown-shape structure that is part of the fibrous skeleton of the heart. From a surgical stand point, the AA is generally located at the anatomic ventriculoaortic junction onto which a prosthetic valve can be sewn. Conversely, from an imaging perspective, the annulus corresponds to a virtual ring formed by linking the basal attachments of the 3 aortic leaflets. peter owl:Class HP:0003502 biolink:NamedThing Mild short stature A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. tmpxe7fu0cj_hp_relaxed.owl Relative short stature|short stature, mild UMLS:C3150077|UMLS:C4020838 HP:0008908|HP:0003503|HP:0008879 human_phenotype owl:Class HP:0020153 biolink:NamedThing Positive blood 1,3 beta glucan test Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-05 21:01:45+00:00 owl:Class HP:0003682 biolink:NamedThing Variable progression rate Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1970284 owl:Class HP:0031694 biolink:NamedThing Severe adenovirus infection An unusually severe adenovirus infection. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 22:36:24+00:00 Adenoviruses can cause an array of clinical diseases, including conjunctivitis, gastroenteritis, hepatitis, myocarditis, and pneumonia. Most of these occur in children younger than the age of 5 years and are generally self-limiting illnesses. peter owl:Class HP:0001741 biolink:NamedThing Phimosis The male foreskin cannot be fully retracted from the head of the penis. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:253854008|UMLS:C0345326 owl:Class HP:0012272 biolink:NamedThing J wave The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point. tmpxe7fu0cj_hp_relaxed.owl EKG J waves|Osborne waves UMLS:C4018858 J waves can be seen in hypothermia when the core body temperature falls below 32 degrees C. Then, they occur most prominently in the inferior leads: II, III, and aVF and the precordial leads: V5-V6. J waves can also be observed in other conditions such as some forms of Brugada syndrome. peter 2013-04-07T02:11:05Z human_phenotype owl:Class HP:0003199 biolink:NamedThing Decreased muscle mass tmpxe7fu0cj_hp_relaxed.owl Decreased muscle mass UMLS:C1837108 HP:0003732 human_phenotype owl:Class HP:0002003 biolink:NamedThing Large forehead tmpxe7fu0cj_hp_relaxed.owl Increased size of frontal region of face|Large forehead|Increased size of forehead|Hyperplasia of forehead|Hypertrophy of forehead UMLS:C4280584|UMLS:C4280583|UMLS:C1839783 human_phenotype owl:Class HP:0003533 biolink:NamedThing Reduced acetaldehyde dehydrogenase level Decreased level of acetaldehyde dehydrogenase (ADH). ADH and alcohol dehydrogenase (ALDH) are the primary enzymes involved in alcohol metabolism. tmpxe7fu0cj_hp_relaxed.owl Delayed oxidation of acetaldehyde UMLS:C4025601 In the liver, alcohol dehydrogenase converts ethanol into acetaldehyde, which is then converted into acetic acid by acetaldehyde dehydrogenase. human_phenotype owl:Class HP:0001345 biolink:NamedThing Psychotic mentation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025789 human_phenotype owl:Class HP:0033383 biolink:NamedThing Decreased compound muscle action potential amplitude Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve. tmpxe7fu0cj_hp_relaxed.owl Decreased CMAP amplitude 2021-01-02 12:41:56+00:00 The CMAP is a summated voltage response from the individual muscle fibre action potentials. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). peter owl:Class HP:0011831 biolink:NamedThing Deviated nasal tip Nasal tip positioned to one side of the midline. tmpxe7fu0cj_hp_relaxed.owl Crooked tip of nose|Asymmetry of nasal tip|Crooked nasal tip|Distortion of the nasal tip|Deviated nasal tip|Deviated tip of nose|Asymmetry of tip of nose|Nasal tip, deviated UMLS:C4280271|UMLS:C4021114 There is no specific minimal angle before the tip can be determined to be deviated. The assessment of a mild degree of deviation is highly dependant on the experience of the observer. A deviated nasal septum can accompany a deviated nasal tip. peter 2012-05-01T07:37:48Z human_phenotype owl:Class HP:0032600 biolink:NamedThing Renal tubular epithelial cell hyaline droplets Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0001114 biolink:NamedThing Xanthelasma The presence of xanthomata in the skin of the eyelid. tmpxe7fu0cj_hp_relaxed.owl Xanthoma of eyelid|Fatty deposits on eyelids|Xanthoma of periocular region|Xanthelasma of eyelid|Xanthelasma of periocular region|Xanthoma|Xanthelasma palpebrarum|Fatty deposits in skin around the eyes MSH:D014973|UMLS:C0155210|UMLS:C4280601|SNOMEDCT_US:75594004|UMLS:C0302314|SNOMEDCT_US:6400008|SNOMEDCT_US:63103006|UMLS:C4280602 human_phenotype owl:Class HP:0033519 biolink:NamedThing Methamphetamine addiction Addiction to methamphetamine. tmpxe7fu0cj_hp_relaxed.owl Methamphetamine dependence 2021-01-13 12:36:14+00:00 peter owl:Class HP:0034152 biolink:NamedThing Anti-histidyl tRNA synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase. tmpxe7fu0cj_hp_relaxed.owl Anti-JO1 antibody positivity 2021-12-23 14:07:13+00:00 peter owl:Class HP:0030908 biolink:NamedThing Liver kidney microsome type 1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2). tmpxe7fu0cj_hp_relaxed.owl Anti-LKM-1 positive LKM1 is conventionally detected by immunofluorescence (IFL), a subjective technique, using rat liver, kidney, and stomach as a composite substrate. owl:Class CL:0000955 biolink:NamedThing pre-B-II cell A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain. tmpxe7fu0cj_hp_relaxed.owl pre-BII cell|pre-B-lymphocyte CALOHA:TS-0819|BTO:0001133 pre-B-II cell are also reportedly CD19-positive, CD22-positive, CD38-positive, CD45-positive, and CD48-positive. cell owl:Class HP:0032840 biolink:NamedThing Neonatal bilateral symmetric epileptic spasm Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0002905 biolink:NamedThing Hyperphosphatemia An abnormally increased phosphate concentration in the blood. tmpxe7fu0cj_hp_relaxed.owl High blood phosphate levels SNOMEDCT_US:20165001|UMLS:C0553706|UMLS:C0085681|MSH:D054559 human_phenotype owl:Class HP:0033539 biolink:NamedThing Bilateral apical pulmonary fibrosis A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray. tmpxe7fu0cj_hp_relaxed.owl 2021-01-20 12:24:15+00:00 Bilateral apical fibrosis is a characteristic finding in ankylosing spondylitis. peter owl:Class HP:0006298 biolink:NamedThing Prolonged bleeding after dental extraction Prolonged bleeding post dental extraction sufficient to require medical intervention. tmpxe7fu0cj_hp_relaxed.owl Prolonged bleeding after dental extraction UMLS:C1969572 human_phenotype owl:Class HP:0011264 biolink:NamedThing Discontinuous ascending root of helix Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid. tmpxe7fu0cj_hp_relaxed.owl Helix, discontinuous ascending root UMLS:C4021176 peter 2011-12-18T07:31:00Z human_phenotype owl:Class NCBITaxon:33083 biolink:NamedThing Dictyostelia tmpxe7fu0cj_hp_relaxed.owl Dictyostelida|Dictyostelids|cellular slime molds|dictyostelid cellular slime molds|Dictyosteliida PMID:9342353|PMID:11062127|GC_ID:1|PMID:29367151 ncbi_taxonomy owl:Class HP:0012011 biolink:NamedThing EEG with occipital focal spike waves EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023080 hecht 2012-07-20T11:59:43Z human_phenotype owl:Class HP:0025403 biolink:NamedThing Stooped posture A habitual positioning of the body with the head and upper back bent forward. tmpxe7fu0cj_hp_relaxed.owl 2017-04-22 14:18:27+00:00 HPO:probinson owl:Class HP:0011649 biolink:NamedThing Patent ductus arteriosus after premature birth Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023248 peter 2012-04-09T09:59:59Z human_phenotype owl:Class HP:0030673 biolink:NamedThing Erosive vitreoretinopathy A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels. tmpxe7fu0cj_hp_relaxed.owl MSH:C536075|UMLS:C1840452|SNOMEDCT_US:232064001 ORCID:0000-0003-0986-4123 owl:Class UBERON:0002180 biolink:NamedThing ventral funiculus of spinal cord The white substance of the spinal cord lying on either side between the ventral median fissure and the ventral roots of the spinal nerves. tmpxe7fu0cj_hp_relaxed.owl anterior white column of spinal cord|ventral funiculi|funiculus anterior medullae spinalis|anterior funiculus|ventral funiculus of spinal cord|anterior funiculus of spinal cord|ventral funiculus|ventral white column of spinal cord FMA:74003|ZFA:0000605|TAO:0000605|NLX:379 http://upload.wikimedia.org/wikipedia/commons/d/dc/Medulla_spinalis_-_Section_-_English.svg uberon owl:Class HP:0032072 biolink:NamedThing Popliteal synovial cyst A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle. tmpxe7fu0cj_hp_relaxed.owl Baker's cyst 2018-10-13 11:41:38+00:00 Popliteal synovial cysts, also known as Baker's cysts, are commonly found in association with intraarticular knee disorders, such as osteoarthritis and meniscus tears. Histologically, the cyst walls resemble synovial tissue with fibrosis, and chronic nonspecific inflammation may be present. Osteocartilaginous loose bodies may also be found within the cyst, even if they are not seen in the knee joint. Baker cysts can be a source of posterior knee pain that persists despite surgical treatment of the intraarticular lesion, and they are routinely discovered on magnetic resonance imaging scans of the symptomatic knee. Symptoms related to a popliteal cyst origin are infrequent and may be related to size. peter owl:Class HP:0004968 biolink:NamedThing Recurrent cerebral hemorrhage Recurrent bleeding into the parenchyma of the brain. tmpxe7fu0cj_hp_relaxed.owl Recurrent cerebral haemorrhage|Recurrent hemorrhagic stroke UMLS:C4025264 human_phenotype owl:Class HP:0005655 biolink:NamedThing Multiple digital exostoses Multiple exostoses originating in the fingers and toes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025162 This feature is characteristic of metachondromatosis (MIM:156250). human_phenotype owl:Class HP:0100497 biolink:NamedThing Vitamin B3 deficiency tmpxe7fu0cj_hp_relaxed.owl Vitamin B3 deficiency SNOMEDCT_US:418186002|UMLS:C0030783|SNOMEDCT_US:418279001|MSH:D010383 doelkens 2010-12-17T04:14:51Z human_phenotype owl:Class HP:0011781 biolink:NamedThing Thyroid C cell hyperplasia An abnormal growth of parafollicular (C-cells) cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0342190|SNOMEDCT_US:237552009 Thyroid C cell hyperplasia usually occurs before the development of familial forms of medullary thyroid cancer and is considered a pre-cancerous condition. peter 2012-04-22T06:05:57Z human_phenotype owl:Class HP:0012666 biolink:NamedThing Severely reduced ejection fraction A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022790 peter 2014-02-15T01:09:02Z human_phenotype owl:Class HP:0004761 biolink:NamedThing Post-angioplasty coronary artery restenosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C2676505 human_phenotype owl:Class HP:0007111 biolink:NamedThing Chronic hepatic encephalopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024937 human_phenotype owl:Class HP:0012819 biolink:NamedThing Myocarditis Inflammation of the myocardium. tmpxe7fu0cj_hp_relaxed.owl Inflammation of heart muscle SNOMEDCT_US:50920009|MSH:D009205|UMLS:C0027059 Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, and adenovirus and parvovirus B19 are often associated with acute myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnoea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment. hecht 2014-05-28T09:01:32Z owl:Class HP:0012534 biolink:NamedThing Dysesthesia Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds. tmpxe7fu0cj_hp_relaxed.owl Hyperalgesia|Hyperpathia|Dysesthesias|Dysaesthesia MSH:D010292|SNOMEDCT_US:279079003|UMLS:C0392699 peter 2013-12-15T09:59:55Z HP:0031005 owl:Class PATO:0001710 biolink:NamedThing 3-D extent A size quality inhering in an bearer by virtue of the bearer's extension in three dimensions. tmpxe7fu0cj_hp_relaxed.owl 3D size quality owl:Class HP:0000411 biolink:NamedThing Protruding ear Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). tmpxe7fu0cj_hp_relaxed.owl Protruding ears|Prominent ears|Prominent ear UMLS:C1305420|SNOMEDCT_US:275478007|UMLS:C1855285 HP:0000412 human_phenotype owl:Class HP:0033483 biolink:NamedThing Podocyte infolding Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 12:12:18+00:00 See Figure 3d of PMID:32393263 and Figures 1 and 2 of PMID:33276871 for examples. peter owl:Class UBERON:0014847 biolink:NamedThing vastus intermedius The Vastus intermedius (Cruraeus) arises from the front and lateral surfaces of the body of the femur in its upper two-thirds, sitting under Rectus Femoris and from the lower part of the lateral intermuscular septum. Its fibers end in a superficial aponeurosis, which forms the deep part of the Quadriceps femoris tendon. The Vastus medialis and Vastus intermedius appear to be inseparably united, but when the Rectus femoris has been reflected a narrow interval will be observed extending upward from the medial border of the patella between the two muscles, and the separation may be continued as far as the lower part of the intertrochanteric line, where, however, the two muscles are frequently continuous. tmpxe7fu0cj_hp_relaxed.owl vastus intermedialis|intermediate great muscle|vastus intermedius|intermediate vastus muscle|crureus|musculus vastus intermedius|cruraeus EMAPA:36243|BTO:0002542|FMA:22433 uberon owl:Class Origin: anterior and lateral surfaces of femur; insertion: patella, common tendon of quadriceps femoris; innervation: femoral; action, extends leg[BTO:0002542]. UBERON:0018143 biolink:NamedThing transverse process of cervical vertebra A transverse process that is part of a cervical vertebra. tmpxe7fu0cj_hp_relaxed.owl FMA:9913|FMA:23894 uberon owl:Class May be homologous with the cervical ribs of some vertebrates HP:0033533 biolink:NamedThing Increased cardiac output An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat. tmpxe7fu0cj_hp_relaxed.owl 2021-01-15 12:57:43+00:00 peter owl:Class HP:0200119 biolink:NamedThing Acute hepatitis Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders. tmpxe7fu0cj_hp_relaxed.owl Acute liver inflammation SNOMEDCT_US:37871000|UMLS:C0267797 sebastiankohler 2013-06-11T11:15:57Z human_phenotype owl:Class HP:0006019 biolink:NamedThing Reduced proximal interphalangeal joint space tmpxe7fu0cj_hp_relaxed.owl Decreased space in hinge joint UMLS:C1861396 human_phenotype owl:Class HP:0032841 biolink:NamedThing Neonatal bilateral asymmetric epileptic spasm Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033344 biolink:NamedThing Pleural cobblestoning A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura. tmpxe7fu0cj_hp_relaxed.owl 2020-11-30 17:44:26+00:00 peter owl:Class HP:0032575 biolink:NamedThing Decreased circulating 12-HETE A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid. tmpxe7fu0cj_hp_relaxed.owl Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration peter owl:Class HP:0004495 biolink:NamedThing Thin anteverted nares tmpxe7fu0cj_hp_relaxed.owl UMLS:C1834056 This bundled term will be made obsolete in future versions of the HPO and should not be used for new annotations. human_phenotype owl:Class HP:0100779 biolink:NamedThing Urogenital sinus anomaly A rare birth defect in women where the urethra and vagina both open into a common channel. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021972 doelkens 2011-06-07T05:45:10Z human_phenotype owl:Class UBERON:0014873 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit 3 A distal epiphysis that is part of a distal phalanx of pedal digit 3. tmpxe7fu0cj_hp_relaxed.owl head of distal phalanx of third toe|ungual tuberosity of distal phalanx of third toe|distal epiphysis of distal phalanx of pedal digit III|distal end of distal phalanx of third toe|head of distal phalanx of third digit of foot|distal epiphysis of distal phalanx of third toe FMA:33054 uberon owl:Class HP:0410049 biolink:NamedThing Abnormality of radial ray tmpxe7fu0cj_hp_relaxed.owl Radial ray abnormality|Radial ray anomaly|Radial ray deformity|Deformity of radial ray 2017-10-16 20:21:52+00:00 An abnormality of the radial ray; the thumb bones and 1st meta carpel. ORCID:0000-0001-5208-3432 owl:Class HP:0033326 biolink:NamedThing Elevated circulating hydroxyphenlyllactic acid concentration An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 14:16:15+00:00 Hydroxyphenyllactic acid or 4-hydroxyphenyllactate (the L-form) is a tyrosine metabolite. The level of L-hydroxyphenyllactic acid is elevated in patients with a deficiency of the enzyme p-hydroxyphenylpyruvate oxidase. peter owl:Class GO:0060495 biolink:NamedThing cell-cell signaling involved in lung development Any process that mediates the transfer of information from one cell to another and contributes to the progression of the lung, from its initial state to the mature structure. tmpxe7fu0cj_hp_relaxed.owl cell-cell signalling involved in lung development biological_process owl:Class MAXO:0010318 biolink:NamedThing skull CT The use of computed tomography to produce images of structures of the skull. tmpxe7fu0cj_hp_relaxed.owl CAT scan of skull|CT of skull|skull computerized axial tomography|skull CAT scan|skull computed tomography|skull CT examination 2020-03-31T20:39:14Z http://orcid.org/0000-0001-7941-3010 owl:Class HP:0030282 biolink:NamedThing Posterior rib gap Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest. tmpxe7fu0cj_hp_relaxed.owl Dorsal rib defect UMLS:C1842696 owl:Class HP:0030280 biolink:NamedThing Rib gap Radiolucent focal defect of a rib shaft. tmpxe7fu0cj_hp_relaxed.owl Rib gap SNOMEDCT_US:249705009|UMLS:C0426827 A rib gap can be congenital or acquired. If congenital this feature is nearly pathgnomonic for Cerebrocostomandibular syndrome (MIM:117650). Acquired rib gaps can be seen after surgical procedures or with fractures or infections. owl:Class HP:0100112 biolink:NamedThing Bracket epiphysis of the middle phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Bracket shaped end part of the middle bone of the 2nd toe UMLS:C4022309 doelkens 2010-06-24T10:05:37Z human_phenotype owl:Class HP:0004563 biolink:NamedThing Increased spinal bone density Increased bone density affecting the bones of the spine (vertebral column). tmpxe7fu0cj_hp_relaxed.owl Eburnation of spinal bone|Sclerosis of spinal bone|Concrete spinal bone|Dense spinal bone|Ivory spinal bone|Compact spinal bone|increased spinal bone density Z|Increased density of spinal bone UMLS:C4280254|UMLS:C4280515|UMLS:C4280514|UMLS:C4020828|UMLS:C4280513 human_phenotype owl:Class HP:0100682 biolink:NamedThing Tracheal atresia A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:53189005|UMLS:C0265766 Diagnosis can be made if the neonate presents with respiratory distress at birth, unable to produce an audible cry in spite of an obvious physical effort, and cannot be intubated but shows some improvement when ventilated by bag and mask. doelkens 2010-12-30T02:09:37Z human_phenotype owl:Class HP:0006462 biolink:NamedThing Generalized bone demineralization A generalized decrease in bone mineral density. tmpxe7fu0cj_hp_relaxed.owl Generalised bone demineralization UMLS:C1833326 The terms Osteopenia or Osteoporosis should be prefered to this term, which may be obsoleted in the future. human_phenotype owl:Class HP:0025554 biolink:NamedThing Yellow nodule A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion). tmpxe7fu0cj_hp_relaxed.owl 2017-07-09 13:41:25+00:00 HPO:probinson owl:Class HP:0007792 biolink:NamedThing Microsaccadic pursuit tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843892 human_phenotype owl:Class HP:0007471 biolink:NamedThing Axillary and groin hyperpigmentation and hypopigmentation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024866 human_phenotype owl:Class HP:0012410 biolink:NamedThing Pure red cell aplasia A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction. tmpxe7fu0cj_hp_relaxed.owl Red cell aplasia SNOMEDCT_US:50715003|MSH:D012010|UMLS:C0034902 Pure red cell aplasia results from a maturation arrest occurs in the formation of erythrocytes. peter 2013-11-10T11:36:59Z human_phenotype owl:Class HP:0000576 biolink:NamedThing Centrocecal scotoma A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:33014001|UMLS:C0271196|MSH:D012607 human_phenotype owl:Class CL:0000745 biolink:NamedThing retina horizontal cell A neuron that laterally connects other neurons in the inner nuclear layer of the retina. tmpxe7fu0cj_hp_relaxed.owl horizontal cell BTO:0004120 cell owl:Class HP:0008354 biolink:NamedThing Factor X activation deficiency Reduced ability to transform factor X into its activated form factor Xa. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024693 human_phenotype owl:Class CL:2000042 biolink:NamedThing embryonic fibroblast Any fibroblast that is part of a embryo. tmpxe7fu0cj_hp_relaxed.owl TermGenie 2014-07-09T00:12:00Z cell owl:Class HP:0031181 biolink:NamedThing Necrolytic migratory erythema Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution. tmpxe7fu0cj_hp_relaxed.owl 2017-06-18 21:02:25+00:00 This feature can be a manifestation of glucagonoma and other cancers. peter owl:Class GO:0043891 biolink:NamedThing glyceraldehyde-3-phosphate dehydrogenase (NAD(P)+) (phosphorylating) activity Catalysis of the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD(P)+ = 3-phospho-D-glyceroyl phosphate + NAD(P)H + H+. tmpxe7fu0cj_hp_relaxed.owl glyceraldehyde-3-phosphate dehydrogenase (NAD(P)) (phosphorylating)|NAD(P)-dependent glyceraldehyde-3-phosphate dehydrogenase activity|D-glyceraldehyde 3-phosphate:NAD(P)+ oxidoreductase (phosphorylating)|triosephosphate dehydrogenase (NAD(P))|triosephosphate dehydrogenase (NAD(P)+) MetaCyc:GAPDHSYNEC-RXN|EC:1.2.1.59 molecular_function owl:Class GO:0042613 biolink:NamedThing MHC class II protein complex A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class CL:0002570 biolink:NamedThing mesenchymal stem cell of adipose tissue A mesenchymal stem cell of adipose tissue. tmpxe7fu0cj_hp_relaxed.owl mesenchymal stem cell of adipose tmeehan 2011-03-01T09:57:17Z cell owl:Class HP:0032940 biolink:NamedThing Dissociative reaction A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0012805 biolink:NamedThing Iris transillumination defect Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1096099 Initially, transillumination defects are usually slit-like, but if pigment loss increases, the defects may be become larger and irregularly shaped. hecht 2014-05-25T03:43:06Z human_phenotype owl:Class HP:0002110 biolink:NamedThing Bronchiectasis Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. tmpxe7fu0cj_hp_relaxed.owl Permanent enlargement of the airways of the lungs SNOMEDCT_US:12295008|MSH:D001987|UMLS:C0006267 owl:Class HP:0031598 biolink:NamedThing Notched P wave V-shaped cut (notch) in the middle of the P wave. tmpxe7fu0cj_hp_relaxed.owl 2017-10-15 13:53:22+00:00 One may observe notched P-waves in the frontal plane in partial interatrial block. peter owl:Class HP:0030328 biolink:NamedThing Decreased osteoclast count Decreased number of osteoclasts. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022507 owl:Class HP:0011577 biolink:NamedThing Partial atrioventricular canal defect A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023290|SNOMEDCT_US:718216009 peter 2012-04-08T10:57:14Z human_phenotype owl:Class HP:0034062 biolink:NamedThing Anti-insulin antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against insulin. tmpxe7fu0cj_hp_relaxed.owl IAA positivity|Insulin autoantibodies 2021-12-18 14:09:23+00:00 peter owl:Class HP:0025109 biolink:NamedThing Reduced red cell pyruvate kinase level Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate. tmpxe7fu0cj_hp_relaxed.owl Reduced erythrocyte pyruvate kinase activity 2016-10-29 00:37:18+00:00 HPO:probinson owl:Class HP:0033412 biolink:NamedThing Upper extremity akinesia Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities. tmpxe7fu0cj_hp_relaxed.owl Akinesia of the upper extremities 2021-01-09 16:29:57+00:00 peter owl:Class HP:0031280 biolink:NamedThing Increased LH response to gonadotropin-releasing hormone stimulation test An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 16:52:32+00:00 peter owl:Class HP:0100311 biolink:NamedThing Cerebral ventricular adhesions Bands of scar-like tisssue that hve formed within a cerebral ventricle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022152 doelkens 2010-08-10T03:10:06Z owl:Class GO:0015800 biolink:NamedThing acidic amino acid transport The directed movement of acidic amino acids, amino acids with a pH below 7, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0010633 biolink:NamedThing Partial anosmia Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023767 peter 2009-12-06T07:52:37Z owl:Class HP:0033856 biolink:NamedThing Cholesterol emboli within interlobular vein lumen Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. tmpxe7fu0cj_hp_relaxed.owl 2021-06-02 19:03:13+00:00 peter owl:Class UBERON:0005698 biolink:NamedThing pedal digit 4 mesenchyme Mesenchyme that is part of a developing pedal digit 4. tmpxe7fu0cj_hp_relaxed.owl foot digit 4 mesenchyme|hind limb digit 4 mesenchyme|pedal digit IV mesenchyme EMAPA:17471|EHDAA2:0002054 uberon owl:Class HP:0100962 biolink:NamedThing Shyness tmpxe7fu0cj_hp_relaxed.owl Shyness MSH:D012792|UMLS:C0037020 doelkens 2012-01-18T06:06:28Z human_phenotype owl:Class HP:0100546 biolink:NamedThing Carotid artery stenosis Narrowing of the carotid arteries. tmpxe7fu0cj_hp_relaxed.owl Carotid stenosis|Narrowing of carotid artery MSH:D016893|SNOMEDCT_US:64586002|UMLS:C0007282 Carotid artery stenosis is usually caused by caused by atherosclerosis. doelkens 2010-12-21T01:31:46Z human_phenotype owl:Class HP:0006441 biolink:NamedThing Lateral humeral condyle aplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1833878 human_phenotype owl:Class HP:0032615 biolink:NamedThing Abnormal diffusion weighted cerebral MRI morphology A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images. tmpxe7fu0cj_hp_relaxed.owl Diffusion weighted imaging (DWI) abnormality|Diffusion weighted magnetic resonance imaging (DWI) abnormality|MRI diffusion abnormality of the cerebrum peter owl:Class HP:0012589 biolink:NamedThing Multidrug-resistant nephrotic syndrome A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022834 peter 2014-01-16T03:48:49Z owl:Class HP:0032068 biolink:NamedThing Increased urinary mucus An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis. tmpxe7fu0cj_hp_relaxed.owl 2018-09-30 14:35:24+00:00 peter owl:Class GO:0061303 biolink:NamedThing cornea development in camera-type eye The progression of the cornea over time, from its formation to the mature structure. The cornea is the transparent structure that covers the anterior of the eye. tmpxe7fu0cj_hp_relaxed.owl dph 2010-09-14T02:09:08Z biological_process owl:Class NCBITaxon:8782 biolink:NamedThing Aves tmpxe7fu0cj_hp_relaxed.owl avian|birds GC_ID:1 ncbi_taxonomy owl:Class HP:0030732 biolink:NamedThing Dysplastic tricuspid valve A congenital malformation of the tricuspid valve characterized by leaflet deformation. tmpxe7fu0cj_hp_relaxed.owl Tricuspid valve dysplasia UMLS:C4255215 Malformations of the tricuspid valve include a wide range of morphologic features that can be divided into two main groups: those in which the primary lesion is downward displacement of the basal attachment of the mural and septal (or both) leaflets, known as Ebstein's malformation (1), and those without downward displacement but with deformation of the leaflets and the tension apparatus, an arrangement described as dysplasia. In severe cases of dysplasia, the tricuspid valve orifice may become unguarded. Although there is a broad morphologic spectrum, these malformations lead to the same hemodynamic burden, namely, tricuspid regurgitation (TR) and its pathophysiological sequelae. owl:Class HP:0500069 biolink:NamedThing Paralytic ectropion A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy. tmpxe7fu0cj_hp_relaxed.owl 2018-02-26 17:37:32+00:00 ORCID:0000-0001-7941-2961 owl:Class MAXO:0010366 biolink:NamedThing vaginography procedure A radiographic examination of the vagina using the intravaginal injection of contrast medium. tmpxe7fu0cj_hp_relaxed.owl vaginography|radiograph of vagina|vagina radiogram procedure|vagina X-ray procedure|radiography of vagina 2020-04-27T20:39:14Z NCIT:C38096 http://orcid.org/0000-0001-7941-2961 owl:Class HP:0007459 biolink:NamedThing Generalized anhidrosis tmpxe7fu0cj_hp_relaxed.owl Generalised inability to sweat|Generalised anhydrosis|Generalized inability to sweat|Generalized anhydrosis|Generalised anhidrosis UMLS:C4024869 human_phenotype owl:Class GO:2001223 biolink:NamedThing negative regulation of neuron migration Any process that stops, prevents or reduces the frequency, rate or extent of neuron migration. tmpxe7fu0cj_hp_relaxed.owl negative regulation of neuron chemotaxis|negative regulation of neuronal migration|negative regulation of neuron guidance kmv 2011-11-17T10:01:45Z biological_process owl:Class HP:0500028 biolink:NamedThing Cotton wool plaques Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes. tmpxe7fu0cj_hp_relaxed.owl CWPs 2017-05-30 18:52:34+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0034134 biolink:NamedThing Anti-GM4 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 12:00:11+00:00 peter owl:Class HP:0100752 biolink:NamedThing Abnormal liver lobulation Formation of abnormal lobules (small masses of tissue) in the liver. tmpxe7fu0cj_hp_relaxed.owl Hepatic anomalous lobulation|Anomalous liver lobulation UMLS:C0345286|SNOMEDCT_US:253811003 doelkens 2011-06-06T06:47:05Z human_phenotype owl:Class HP:0000786 biolink:NamedThing Primary amenorrhea tmpxe7fu0cj_hp_relaxed.owl UMLS:C0232939|SNOMEDCT_US:8913004 human_phenotype owl:Class CHEBI:23354 biolink:NamedThing coenzyme A low-molecular-weight, non-protein organic compound participating in enzymatic reactions as dissociable acceptor or donor of chemical groups or electrons. tmpxe7fu0cj_hp_relaxed.owl coenzymes|coenzyme chebi_ontology owl:Class HP:0006282 biolink:NamedThing Generalized hypoplasia of dental enamel A generalized form of developmental hypoplasia of the dental enamel. tmpxe7fu0cj_hp_relaxed.owl Generalised hypoplasia of dental enamel|Generalized hypoplasia of tooth enamel|Generalized dysplasia of tooth enamel|Generalised hypoplasia of tooth enamel|Generalised dysplasia of tooth enamel UMLS:C4280462|UMLS:C4025070 owl:Class HP:0100024 biolink:NamedThing Conspicuously happy disposition An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger. tmpxe7fu0cj_hp_relaxed.owl Conspicious happy aspect|Happy aspect UMLS:C4021029 doelkens 2010-05-28T05:32:35Z human_phenotype owl:Class CHEBI:52214 biolink:NamedThing ligand Any molecule or ion capable of binding to a central metal atom to form coordination complexes. tmpxe7fu0cj_hp_relaxed.owl ligands Wikipedia:Ligand chebi_ontology owl:Class HP:0031478 biolink:NamedThing Abnormal mitral valve annulus morphology Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 22:28:08+00:00 peter owl:Class HP:0040098 biolink:NamedThing Basalioma of the outer ear tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022442 HPO:skoehler owl:Class HP:0012451 biolink:NamedThing Acute constipation Constipation of sudden onset and lasting for less than three months. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0401148|SNOMEDCT_US:197119006 peter 2013-11-23T04:06:37Z human_phenotype owl:Class HP:0031169 biolink:NamedThing Postterm pregnancy A pregnancy that extends to 42 weeks of gestation or beyond. tmpxe7fu0cj_hp_relaxed.owl 2017-06-18 19:54:05+00:00 This term can apply to a child born of a postterm pregancy. peter owl:Class HP:0031032 biolink:NamedThing Decreased retinol-binding protein level A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity. tmpxe7fu0cj_hp_relaxed.owl 2017-05-27 11:03:28+00:00 peter owl:Class HP:0032976 biolink:NamedThing Elevated bronchoalveolar lavage fluid lymphocyte proportion Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011171 biolink:NamedThing Simple febrile seizure A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. tmpxe7fu0cj_hp_relaxed.owl Simple febrile convulsion|Simple fever fit|Simple febrile seizures SNOMEDCT_US:432354000|MSH:D003294|UMLS:C0149886 Fever may not be detected before the seizure, but it must be present at least in the immediate postacute period. In most cases these seizures are of a generalized tonic-clonic semiology. hecht 2011-11-19T10:09:04Z owl:Class HP:0033735 biolink:NamedThing Grade I vesicoureteral reflux Vesicoureteral reflux into the ureter only. tmpxe7fu0cj_hp_relaxed.owl Grade I VUR|VUR I 2021-04-16 13:58:30+00:00 peter owl:Class HP:0012422 biolink:NamedThing Villous hypertrophy of choroid plexus Overgrowth of the choroid plexus. tmpxe7fu0cj_hp_relaxed.owl Choroid plexus hypertrophy|Diffuse villous hypertrophy of choroid plexus UMLS:C4020728|UMLS:C4021089 The most common location for overgrowth is the lateral ventricles. The choroid plexus folds into many villi around capillaries, creating frond-like processes that project into the ventricles. The terms choroid plexus hypertrophy or choroid plexus hyperplasia are used interchangeably to refer to an increase in size of these structures. Diffuse villous hyperplasia of choroid plexus (DVHCP) is a rare condition which is characterized by the presence of diffuse enlargement of the entire choroid plexus throughout the length of the choroidal fissure and overproduction of CSF. peter 2013-11-11T07:50:37Z human_phenotype owl:Class HP:0430010 biolink:NamedThing Microblepharia Abnormal shortness of the vertical dimensions of the eyelids. tmpxe7fu0cj_hp_relaxed.owl Abnormally small eyelid UMLS:C0685873|SNOMEDCT_US:94684003 owl:Class HP:0032928 biolink:NamedThing Elevated CSF neurofilamant light chain Definition: Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0008041 biolink:NamedThing Late onset congenital glaucoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856441 human_phenotype owl:Class HP:0007822 biolink:NamedThing Central retinal exudate tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024793 human_phenotype owl:Class HP:0011851 biolink:NamedThing Hemopericardium Accumulation of blood within the pericardial sac. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:23412002|MSH:D010490|UMLS:C0019064 hecht 2012-05-21T10:43:03Z owl:Class HP:0010923 biolink:NamedThing Anterior subcapsular cataract A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1112768|SNOMEDCT_US:315352000 peter 2010-12-12T12:51:55Z human_phenotype owl:Class HP:0007975 biolink:NamedThing Hypometric horizontal saccades Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856478 human_phenotype owl:Class HP:0032607 biolink:NamedThing Renal tubular epithelial cell swelling Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0008209 biolink:NamedThing Premature ovarian insufficiency Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. tmpxe7fu0cj_hp_relaxed.owl Hypergonadotropic amenorrhea|Menopause praecox|Early menopause|Climacterium praecox|Premature menopause|Premature ovarian failure|Primary ovarian insufficiency MSH:D016649|UMLS:C0085215|SNOMEDCT_US:373717006|MSH:D008594|UMLS:C0025322 The causes of primary ovarian insuficiency (POI) include chromosomal and genetic defects, autoimmune processes, chemotherapy, radiation, infections and surgery, but many are unidentified (idiopathic). The age of 40 is set by convention but is supported by clinical observations. From a statistical point of view, the age limit of 40 is approximately two standard deviations (SD) below the average age at natural menopause (50 plus/minus 4 years). HP:0100805|HP:0001587 owl:Class HP:0000320 biolink:NamedThing Bird-like facies tmpxe7fu0cj_hp_relaxed.owl Bird-like facial appearance UMLS:C1837758 human_phenotype owl:Class HP:0003782 biolink:NamedThing Eunuchoid habitus A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025569 human_phenotype owl:Class HP:0011465 biolink:NamedThing Duodenal aganglionosis A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023345 peter 2012-03-25T07:38:12Z human_phenotype owl:Class HP:0012549 biolink:NamedThing Conjunctival lipoma A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva. tmpxe7fu0cj_hp_relaxed.owl NCIT:C3192|UMLS:C4022854 Conjunctival lipoma displays yellowish-pink stromal mass, histologically with large lipid vacuoles surrounded by stellate cells. peter 2014-01-01T03:13:56Z human_phenotype owl:Class HP:0020140 biolink:NamedThing History of recent tick bite Medical history of a recent bite injury due to a tick. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-05 17:48:14+00:00 owl:Class HP:0033324 biolink:NamedThing Elevated circulating homovanillic acid concentration Increased concentration of homovanillic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 14:09:50+00:00 Homovanillic acid is the main metabolite produced from dopamine degradation by the action of monoamine oxidase. peter owl:Class HP:0025675 biolink:NamedThing Premature closure of the ductus arteriosus A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery). tmpxe7fu0cj_hp_relaxed.owl Fetal PDA narrowing-closure|Fetal arterial duct narrowing-closure|Fetal PAD narrowing-closure|PCDA|Fetal ductus arteriosus narrowing-closure|Idiopathic constriction of the fetal ductus arteriosus peterrobinson owl:Class UBERON:0001071 biolink:NamedThing superficial cervical artery It ascends beneath the anterior margin of the trapezius, distributing branches to it, and to the neighboring muscles and lymph glands in the neck, and anastomosing with the superficial branch of the descending branch of the occipital artery. tmpxe7fu0cj_hp_relaxed.owl superficial branch of transverse cervical artery SCTID:161746006|MA:0002052|EMAPA:37117|FMA:10665|UMLS:C0226271|NCIT:C53005|Wikipedia:Superficial_part_of_transverse_cervical_artery The transverse cervical artery splits into two branches, a superficial one and a deep one[WP] uberon owl:Class HP:0031085 biolink:NamedThing Decreased prealbumin level A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status. tmpxe7fu0cj_hp_relaxed.owl 2017-05-29 00:10:33+00:00 peter owl:Class HP:0000751 biolink:NamedThing Personality changes An abnormal shift in patterns of thinking, acting, or feeling. tmpxe7fu0cj_hp_relaxed.owl Personality changes|Personality change UMLS:C0240735|SNOMEDCT_US:102943000|SNOMEDCT_US:192073007 This term refers to changes in personality that are perceived as being abnormal. It does not refer to the usual gradual personality changes that tend to accompany aging and certain life situations. human_phenotype owl:Class HP:0030706 biolink:NamedThing Ranula A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location. tmpxe7fu0cj_hp_relaxed.owl Sublingual cyst|Sublingual ptyalocele MSH:D011900|UMLS:C2242813|SNOMEDCT_US:14919007 owl:Class HP:0033944 biolink:NamedThing Arcuate vein medial/intimal liquefactive necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. tmpxe7fu0cj_hp_relaxed.owl Liquefactive necrosis within arcuate vein intima/media 2021-06-24 01:53:42+00:00 peter owl:Class PATO:0001948 biolink:NamedThing furrowed A grooved texture quality inhering in a bearer by virtue of the bearer's being marked by two or more parallel channels. tmpxe7fu0cj_hp_relaxed.owl fluted quality owl:Class HP:0020144 biolink:NamedThing Calcium phosphate crystalluria The presence of calcium phosphate crystals in the urine. tmpxe7fu0cj_hp_relaxed.owl Calcium phosphate crystals are pleiomorphic, often appearing as birefringent stars or needles, occurring in isolation or in clumps. Plates are granular and non-birefringent. robinp 2019-07-05 19:05:11+00:00 owl:Class HP:0030675 biolink:NamedThing Contracture of proximal interphalangeal joints of 2nd-5th fingers Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073123 NIH:jdavis owl:Class HP:0033848 biolink:NamedThing Receptive aphasia A type of aphasia that is characterized by impaired language comprehension. tmpxe7fu0cj_hp_relaxed.owl Fluent aphasia|Wernicke aphasia 2021-06-01 16:53:29+00:00 peter owl:Class HP:0006733 biolink:NamedThing Acute megakaryocytic leukemia A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts. tmpxe7fu0cj_hp_relaxed.owl AMegL|Acute megakaryocytic leukaemia SNOMEDCT_US:91861009|SNOMEDCT_US:413443009|UMLS:C0023467|SNOMEDCT_US:17788007|MSH:D015470 human_phenotype owl:Class UBERON:8410009 biolink:NamedThing arteriole of anorectum An arteriole that is located in the anorectum. tmpxe7fu0cj_hp_relaxed.owl anorectum arteriole http://orcid.org/0000-0002-2825-0621 uberon owl:Class HP:0040146 biolink:NamedThing D-2-hydroxyglutaric acidemia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022415 HPO:skoehler owl:Class HP:0032862 biolink:NamedThing Status epilepticus with ictal paresis A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures. tmpxe7fu0cj_hp_relaxed.owl Focal inhibitory status epilepticus Ictal paresis or inhibitory motor seizures are a relatively rare type of seizure characterized by an inability to initiate or continue movements despite retained awareness, which could last for many hours or even days. These manifest with paresis/paralysis of 1 side of the body (hemiplegia with or without facial involvement) or 1 extremity (upper or lower monoplegia) and are often preceded by other objective or subjective ictal symptoms, which may also occur concomitantly with the paresis or independently. peter owl:Class HP:0034105 biolink:NamedThing Anti-transcription intermediary factor-1gamma antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma. tmpxe7fu0cj_hp_relaxed.owl Anti-TIF-1gamma antibody positivity|Anti-TIF1-gamma antibody positivity 2021-12-19 15:06:47+00:00 peter owl:Class HP:0002840 biolink:NamedThing Lymphadenitis Inflammation of a lymph node. tmpxe7fu0cj_hp_relaxed.owl Inflammation of the lymph nodes SNOMEDCT_US:19471005|MSH:D008199|UMLS:C0024205 human_phenotype owl:Class HP:0006655 biolink:NamedThing Rib segmentation abnormalities tmpxe7fu0cj_hp_relaxed.owl UMLS:C1968999 human_phenotype owl:Class HP:0010686 biolink:NamedThing Low alkaline phosphatase of hepatic origin An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood. tmpxe7fu0cj_hp_relaxed.owl Low ALP of hepatic origin UMLS:C4023739 doelkens 2010-03-05T11:12:47Z human_phenotype owl:Class HP:0100408 biolink:NamedThing Complete duplication of the distal phalanx of the 4th toe Complete duplication of the distal phalanx of fourth toe. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the outermost bone of the 4th toe|Complete duplication of the distal phalanx of the fourth toe UMLS:C4020989 human_phenotype owl:Class HP:0032717 biolink:NamedThing Focal impaired awareness motor seizure with dystonia A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure. tmpxe7fu0cj_hp_relaxed.owl Focal motor impaired awareness seizure with dystonia peter owl:Class HP:0011640 biolink:NamedThing Single coronary artery origin The presence of a single coronary artery ostium from which both coronary arteries arise. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023251 peter 2012-04-09T08:44:38Z human_phenotype owl:Class HP:0001071 biolink:NamedThing Angiokeratoma corporis diffusum tmpxe7fu0cj_hp_relaxed.owl Fabry syndrome MSH:D000795|SNOMEDCT_US:16652001|SNOMEDCT_US:124464003|UMLS:C0002986 human_phenotype owl:Class HP:0001014 biolink:NamedThing Angiokeratoma A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot. tmpxe7fu0cj_hp_relaxed.owl Angiokeratomas SNOMEDCT_US:26810009|MSH:D000794|UMLS:C0002985 human_phenotype owl:Class HP:0003264 biolink:NamedThing Deficiency of N-acetylglucosamine-1-phosphotransferase tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:70199000|MSH:D009081|UMLS:C0020725 N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. human_phenotype owl:Class HP:0012595 biolink:NamedThing Mild proteinuria Mildly increased levels of protein in the urine (150-500 mg per day in adults). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022832 peter 2014-01-16T05:55:47Z human_phenotype owl:Class HP:0025502 biolink:NamedThing Overweight Increased body weight with a body mass index of 25-29.9 kg per square meter. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 20:12:36+00:00 HPO:probinson owl:Class HP:0410322 biolink:NamedThing Bacteria allergy Hypersensitivity in form of an adverse immune reaction against bacteria. tmpxe7fu0cj_hp_relaxed.owl Allergy to bacteria|IgE-mediated bacteria allergy|Immunoglobulin E-mediated bacteria allergy|Bacteria allergy owl:Class HP:0010777 biolink:NamedThing Bronchomegaly Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023706 sdoelken 2010-04-29T10:25:22Z owl:Class HP:0032379 biolink:NamedThing Polymorphous light eruption The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces. tmpxe7fu0cj_hp_relaxed.owl Sun allergy 2019-02-24 14:52:07+00:00 peter owl:Class HP:0031297 biolink:NamedThing Unroofed coronary sinus Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 21:44:35+00:00 peter owl:Class GO:0044848 biolink:NamedThing biological phase A distinct period or stage in a biological process or cycle. tmpxe7fu0cj_hp_relaxed.owl Note that phases are is_a disjoint from other biological processes. happens_during relationships can operate between phases and other biological processes e.g. DNA replication happens_during S phase. jl 2014-07-16T13:12:40Z biological_process owl:Class HP:0032087 biolink:NamedThing Aortic laminar medial collapse Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers. tmpxe7fu0cj_hp_relaxed.owl 2018-10-14 15:03:08+00:00 Laminar medial collapse replaces the old term laminar medial necrosis and is to be used only when an elastic stain has demonstrated elastic fiber compaction. Laminar medial collapse appears as a darker band on an elastic stain as a result of a significant loss of intermixed smooth muscle cells. peter owl:Class HP:0025275 biolink:NamedThing Lateral Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure. tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 14:47:04+00:00 HPO:probinson owl:Class HP:0030380 biolink:NamedThing Decreased proportion of transitional B cells A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. tmpxe7fu0cj_hp_relaxed.owl Decreased proportion of CD19+CD38+IgM+ cells UMLS:C4072919 owl:Class HP:0025022 biolink:NamedThing Decreased erythrocyte sedimentation rate A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. tmpxe7fu0cj_hp_relaxed.owl Low ESR|Decreased ESR 2016-08-22 10:39:06+00:00 HPO:probinson owl:Class HP:0025021 biolink:NamedThing Abnormal erythrocyte sedimentation rate A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. tmpxe7fu0cj_hp_relaxed.owl Abnormal Westergren sedimentation rate|Abnormal ESR 2016-08-22 10:26:22+00:00 HPO:probinson owl:Class HP:0010037 biolink:NamedThing Aplasia of the 2nd metacarpal Absence of the second long bone of the hand. tmpxe7fu0cj_hp_relaxed.owl Absent 2nd long bone of hand UMLS:C4024090 doelkens 2009-05-27T04:35:04Z human_phenotype owl:Class HP:0006077 biolink:NamedThing Absent proximal finger flexion creases Absence of the proximal interphalangeal flexion creases of the fingers. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850048 human_phenotype owl:Class HP:0007268 biolink:NamedThing Aprosencephaly tmpxe7fu0cj_hp_relaxed.owl UMLS:C0431349|SNOMEDCT_US:277922001|MSH:D000757 human_phenotype owl:Class HP:0410269 biolink:NamedThing Labial hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip. tmpxe7fu0cj_hp_relaxed.owl 2018-10-30 02:07:28+00:00 owl:Class HP:0034026 biolink:NamedThing Elevated circulating sacchoropine concentration An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine. tmpxe7fu0cj_hp_relaxed.owl 2021-09-04 16:30:15+00:00 peter owl:Class NCBITaxon:314147 biolink:NamedThing Glires tmpxe7fu0cj_hp_relaxed.owl Rodents and rabbits GC_ID:1|PMID:12082125|PMID:11214319|PMID:15522813 ncbi_taxonomy owl:Class HP:0012884 biolink:NamedThing Fallopian tube torsion A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation. tmpxe7fu0cj_hp_relaxed.owl Twisted fallopian tube UMLS:C0269169|SNOMEDCT_US:46946009 Fallopian tube torsion, though rare, should be considered in women of reproductive age with unilateral pelvic pain. Early diagnostic laparoscopy is important for an accurate diagnosis and could salvage the tube. hecht 2014-06-11T08:01:57Z human_phenotype owl:Class HP:0000112 biolink:NamedThing Nephropathy A nonspecific term referring to disease or damage of the kidneys. tmpxe7fu0cj_hp_relaxed.owl Kidney damage|Kidney disease UMLS:C1408258|UMLS:C0022658|SNOMEDCT_US:90708001|MSH:D007674 human_phenotype owl:Class HP:0033769 biolink:NamedThing Fundic gland polyposis Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps. tmpxe7fu0cj_hp_relaxed.owl Fundic gland polyps|Gastric polyposis|Proximal polyposis of the stomach 2021-04-30 13:21:07+00:00 peter owl:Class HP:0030271 biolink:NamedThing Reduced erythrocyte 2,3-diphosphoglycerate concentration This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022546 owl:Class HP:0012651 biolink:NamedThing Abasia A severe form of gait ataxia such that an affected person cannot walk at all. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0877217 peter 2014-02-06T07:52:50Z human_phenotype owl:Class HP:0100316 biolink:NamedThing Hirano bodies Intracellular aggregates of actin and actin-associated proteins within nerve cells. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:57458003|UMLS:C0521178 doelkens 2010-08-10T03:32:38Z human_phenotype owl:Class HP:0002671 biolink:NamedThing Basal cell carcinoma The presence of a basal cell carcinoma of the skin. tmpxe7fu0cj_hp_relaxed.owl Basal cell epithelioma|Basal cell nevus|Basalioma|Basal cell carcinomas UMLS:C0007117|SNOMEDCT_US:254701007|MSH:D002280|SNOMEDCT_US:275265005|NCIT:C2921|SNOMEDCT_US:1338007|UMLS:C1862314 A basal cell carcinoma is the most common type of skin cancer which rarely metastasizes, but is still considered malignant because it can cause significant destruction and disfigurement by invading surrounding tissues. In 80 percent of all cases, basal cell cancers are found on the head and neck or on other sun-exposed areas of the body. Apart from sporadic basal cell carcinoma, there are hereditary conditions such as the basal cell nevus syndrome where patients develop multiple basal cell carcinomas throughout life. human_phenotype owl:Class HP:0003009 biolink:NamedThing Enhanced neurotoxicity of vincristine tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025661 human_phenotype owl:Class HP:0100604 biolink:NamedThing Neoplasm of the lip A tumor (abnormal growth of tissue) of the lip. tmpxe7fu0cj_hp_relaxed.owl Lip tumour|Tumour of the lip|Tumor of the lip|Lip tumor|Neoplasia of the lip SNOMEDCT_US:126770008|UMLS:C4020706|NCIT:C3262|UMLS:C0023761|MSH:D008048 doelkens 2010-12-27T05:46:46Z human_phenotype owl:Class HP:0004287 biolink:NamedThing Pointed hand bones tmpxe7fu0cj_hp_relaxed.owl Pointed hand bones UMLS:C4025369 human_phenotype owl:Class HP:0033359 biolink:NamedThing Hyperosthenuria An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine. tmpxe7fu0cj_hp_relaxed.owl 2020-12-01 12:45:30+00:00 peter owl:Class HP:0033983 biolink:NamedThing Decreased circulating apolipoprotein C-II concentration Reduced concentration of apolipoprotein C-II in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased plasma apolipoprotein C-II 2021-07-15 11:42:48+00:00 peter owl:Class HP:0031175 biolink:NamedThing Absent cervical vertebra A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine. tmpxe7fu0cj_hp_relaxed.owl 2017-06-18 20:20:43+00:00 peter owl:Class HP:0003288 biolink:NamedThing Mitochondrial propionyl-CoA carboxylase defect tmpxe7fu0cj_hp_relaxed.owl Mitochondrial PCC defect UMLS:C4025634 human_phenotype owl:Class HP:0012567 biolink:NamedThing Premature epimetaphyseal fusion in ulna Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022840 peter 2014-01-04T02:10:05Z human_phenotype owl:Class HP:0100693 biolink:NamedThing Iridodonesis Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:118166004|UMLS:C0423320 doelkens 2011-02-18T05:11:16Z human_phenotype owl:Class HP:0008915 biolink:NamedThing Childhood-onset truncal obesity Truncal obesity with onset during childhood, defined as between 2 and 10 years of age. tmpxe7fu0cj_hp_relaxed.owl Truncal obesity apparent in childhood UMLS:C1859846 HP:0008874 human_phenotype owl:Class HP:0100327 biolink:NamedThing Cow milk allergy Hypersensitivity in form of an adverse immune reaction against cow milk protein. tmpxe7fu0cj_hp_relaxed.owl Immunoglobulin E-mediated cow milk allergy|Milk allergy|Cow milk allergy|IgE-mediated cow milk allergy SNOMEDCT_US:15911003|UMLS:C0266815 doelkens 2010-09-16T06:03:58Z human_phenotype owl:Class HP:0033111 biolink:NamedThing 3-hydroxyisovaleric aciduria Concentration of 3-hydroxyisovaleric acid in the urine above the normal range. tmpxe7fu0cj_hp_relaxed.owl Increased urine 3-hydroxyisovaleric acid level 2020-08-29 12:10:59+00:00 peter owl:Class HP:0005435 biolink:NamedThing Impaired T cell function Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity. tmpxe7fu0cj_hp_relaxed.owl T-cell dysfunction|Impaired T cell function UMLS:C1860127 HP:0005373|HP:0005383|HP:0002844|HP:0005409 human_phenotype owl:Class HP:0003717 biolink:NamedThing Minimal subcutaneous fat tmpxe7fu0cj_hp_relaxed.owl Minimal fat below the skin UMLS:C1859442 human_phenotype owl:Class HP:0005157 biolink:NamedThing Concentric hypertrophic cardiomyopathy Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. tmpxe7fu0cj_hp_relaxed.owl Symmetric, concentric, hypertrophic cardiomyopathy UMLS:C0238044 HP:0001672 human_phenotype owl:Class HP:0011916 biolink:NamedThing Toe extensor amyotrophy Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023127 peter 2012-06-08T06:59:44Z human_phenotype owl:Class HP:0040184 biolink:NamedThing Oral bleeding tmpxe7fu0cj_hp_relaxed.owl Oral bleeding|Oral hemorrhage|Oral haemorrhage UMLS:C0029163|MSH:D006472|SNOMEDCT_US:22490002 owl:Class HP:0033373 biolink:NamedThing Increased KCO Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). tmpxe7fu0cj_hp_relaxed.owl 2020-12-23 12:40:33+00:00 peter owl:Class HP:0025009 biolink:NamedThing Forward slanting upper incisors The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards. tmpxe7fu0cj_hp_relaxed.owl Forward directed upper incisors|Proclination of the upper incisors|Protruding upper incisors 2016-08-07 12:52:55+00:00 HPO:probinson owl:Class HP:0030575 biolink:NamedThing Pinhole visual acuity 0.7 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073048 owl:Class UBERON:0010136 biolink:NamedThing epithelial sheet An epithelial sheet is a flat surface consisting of closely packed epithelial cells. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0041086 biolink:NamedThing Compression-fractured cervical vertebra A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. tmpxe7fu0cj_hp_relaxed.owl Compression fractured cervical vertebra|Wedge fractured cervical vertebra owl:Class HP:0007280 biolink:NamedThing Acute infantile spinal muscular atrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024911 human_phenotype owl:Class HP:0012315 biolink:NamedThing Histiocytoma A neoplasm containing histiocytes. tmpxe7fu0cj_hp_relaxed.owl MSH:D051642|UMLS:C1509147|SNOMEDCT_US:128741006|SNOMEDCT_US:302843004 peter 2013-08-10T12:30:05Z human_phenotype owl:Class NBO:0000446 biolink:NamedThing visual pursuit "Selectively track a moving object." [NBO:GVG] tmpxe7fu0cj_hp_relaxed.owl 2011-04-08T12:25:53Z George Gkoutos behavior_ontology owl:Class HP:0030356 biolink:NamedThing Increased serum interferon-gamma level An elevation in the concentration of interferon gamma measured in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072900 owl:Class UBERON:0018120 biolink:NamedThing right renal medulla interstitium A renal medulla interstitium that is part of a right kidney. tmpxe7fu0cj_hp_relaxed.owl medullary interstitial tissue of right kidney uberon owl:Class GO:0005880 biolink:NamedThing nuclear microtubule Any microtubule in the nucleus of a cell. tmpxe7fu0cj_hp_relaxed.owl cellular_component owl:Class HP:0030822 biolink:NamedThing Hooded upper eyelid Upper eyelid partly covered by skin when eyes are open. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280749 owl:Class HP:0009069 biolink:NamedThing Lethal infantile mitochondrial myopathy tmpxe7fu0cj_hp_relaxed.owl MSH:C564017|UMLS:C1838876 human_phenotype owl:Class HP:0001615 biolink:NamedThing Hoarse cry tmpxe7fu0cj_hp_relaxed.owl Hoarse cry UMLS:C2678303 human_phenotype owl:Class HP:0008315 biolink:NamedThing Decreased plasma free carnitine A decreased concentration of free (unbound) carnitine in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4015009 human_phenotype owl:Class HP:0025167 biolink:NamedThing Fragmented elastic fibers in the dermis Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers. tmpxe7fu0cj_hp_relaxed.owl Fragmented elastic fibres in the dermis 2016-12-04 13:56:23+00:00 HPO:probinson owl:Class HP:0033662 biolink:NamedThing Air bronchogram An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma). tmpxe7fu0cj_hp_relaxed.owl 2021-02-27 14:36:01+00:00 See Figure 2 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0041049 biolink:NamedThing Starch intolerance An inability to digest starch. tmpxe7fu0cj_hp_relaxed.owl Amylose-amylopectin intolerance|Starch intolerance owl:Class CHEBI:88188 biolink:NamedThing drug allergen Any drug which causes the onset of an allergic reaction. tmpxe7fu0cj_hp_relaxed.owl allergenic drug chebi_ontology owl:Class HP:0002871 biolink:NamedThing Central apnea Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. tmpxe7fu0cj_hp_relaxed.owl Central apnoea UMLS:C0520680|MSH:D020182 human_phenotype owl:Class HP:0031293 biolink:NamedThing Digital pitting scar Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 21:25:54+00:00 peter owl:Class HP:0031454 biolink:NamedThing Apocrine hidrocystoma A cystic lesions that forms a benign tumor of an apocrine sweat gland. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 15:50:31+00:00 peter owl:Class MAXO:0010357 biolink:NamedThing lower limb radiographic procedure The X-ray examination of the lower limbs of the body. tmpxe7fu0cj_hp_relaxed.owl lower limb X-ray|lower limb radiography|radiograph of lower limb segment|radiography of lower limb segment|lower limb segment radiogram procedure|lower limb segment X-ray procedure 2020-04-07T20:39:14Z NCIT:C20080 http://orcid.org/0000-0001-7941-2961 owl:Class HP:0009805 biolink:NamedThing Low-output congestive heart failure A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024201 peter 2009-02-16T11:10:18Z human_phenotype owl:Class HP:0004416 biolink:NamedThing Precocious atherosclerosis tmpxe7fu0cj_hp_relaxed.owl Premature atherosclerosis|Premature plaque build-up in arteries UMLS:C4280264|UMLS:C4021654 peter 2008-03-18T09:28:00Z human_phenotype owl:Class UBERON:0005598 biolink:NamedThing trunk somite A somite that is part of a trunk. tmpxe7fu0cj_hp_relaxed.owl EHDAA2:0003438|AAO:0010385|EMAPA:16184|XAO:0000314 uberon owl:Class HP:0033328 biolink:NamedThing Type II pneumocyte hyperplasia Increase in the number of type II pneumocytes. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 15:29:09+00:00 peter owl:Class GO:0009437 biolink:NamedThing carnitine metabolic process The chemical reactions and pathways involving carnitine (hydroxy-trimethyl aminobutyric acid), a compound that participates in the transfer of acyl groups across the inner mitochondrial membrane. tmpxe7fu0cj_hp_relaxed.owl carnitine metabolism|vitamin Bt metabolic process|vitamin Bt metabolism biological_process owl:Class HP:0033925 biolink:NamedThing Renal arteriole lymphocyte endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen. tmpxe7fu0cj_hp_relaxed.owl Endoarterial hypercellularity within arterioles consisting of lymphocytes 2021-06-24 01:06:07+00:00 peter owl:Class GO:1905322 biolink:NamedThing positive regulation of mesenchymal stem cell migration Any process that activates or increases the frequency, rate or extent of mesenchymal stem cell migration. tmpxe7fu0cj_hp_relaxed.owl activation of mesenchymal stem cell migration|up-regulation of mesenchymal stem cell migration|up regulation of mesenchymal stem cell migration|upregulation of mesenchymal stem cell migration sl 2016-07-15T22:19:29Z biological_process owl:Class HP:0025449 biolink:NamedThing Apically displaced anterolateral papillary muscle Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view, tmpxe7fu0cj_hp_relaxed.owl Apically displaced papillary muscles 2017-04-30 11:02:45+00:00 HPO:probinson owl:Class HP:0011581 biolink:NamedThing Double outlet left ventricle A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle. tmpxe7fu0cj_hp_relaxed.owl Fyler:0650|SNOMEDCT_US:7368005|Fyler:650|ICD-10:Q20.2|UMLS:C0265809 peter 2012-04-08T12:37:48Z human_phenotype owl:Class HP:0011735 biolink:NamedThing Adrenocorticotropin deficient adrenal insufficiency Adrenal insufficiency secondary to a defect in ACTH production. tmpxe7fu0cj_hp_relaxed.owl ACTH deficient adrenal insufficiency UMLS:C4023211 peter 2012-04-21T09:06:46Z human_phenotype owl:Class HP:0033094 biolink:NamedThing Increased urine glutamate level An increased concentration of glutamate in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased glutamic acid in urine peter owl:Class CL:0011025 biolink:NamedThing exhausted T cell tmpxe7fu0cj_hp_relaxed.owl Tex cell|An effector T cell that displays impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity) and has limited proliferative potential. http://orcid.org/0000-0001-5208-3432 owl:Class HP:0003885 biolink:NamedThing Undermodeled humerus tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025529 owl:Class HP:0032210 biolink:NamedThing Decreased circulating free T3 A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased circulating free triiodothyronine 2019-01-20 20:42:18+00:00 peter owl:Class HP:0012192 biolink:NamedThing Cutaneous T-cell lymphoma A type of T-cell lymphoma that exhibits malignant infiltration of the skin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0079773|MSH:D016410|SNOMEDCT_US:400122007|SNOMEDCT_US:28054005 peter 2013-02-27T07:03:19Z human_phenotype owl:Class HP:0041064 biolink:NamedThing Fractured knee A partial or complete breakage of the knee. tmpxe7fu0cj_hp_relaxed.owl bone knee owl:Class HP:0003697 biolink:NamedThing Scapuloperoneal amyotrophy Muscular atrophy in the distribution of shoulder girdle and peroneal muscles. tmpxe7fu0cj_hp_relaxed.owl Scapuloperoneal atrophy UMLS:C1842162 HP:0006920|HP:0008957 human_phenotype owl:Class HP:0100320 biolink:NamedThing Rosenthal fibers Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders. tmpxe7fu0cj_hp_relaxed.owl Rosenthal fibres UMLS:C0333731|SNOMEDCT_US:84605001 doelkens 2010-08-10T03:46:31Z human_phenotype owl:Class HP:0002816 biolink:NamedThing Genu recurvatum An abnormally increased extension of the knee joint, so that the knee can bend backwards. tmpxe7fu0cj_hp_relaxed.owl Back knee|Knee hyperextension|Genu recurvata UMLS:C0546964|MEDDRA:10018194 Individuals with genu recurvatum may experience knee pain, display an extension gait pattern, and have poor proprioceptive control of terminal knee extension. human_phenotype owl:Class HP:0025175 biolink:NamedThing Honeycomb lung Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care. tmpxe7fu0cj_hp_relaxed.owl Honeycombing|Honeycomb cysts 2016-12-04 19:34:18+00:00 Pathologically, honeycombing is manifested as small air-containing cystic spaces that are lined by bronchiolar epithelium and have thickened walls of dense fibrous tissue. On high-resolution CT, honeycombing presents with a characteristic cystic appearance. The cystic spaces range from 3 mm to 1 cm in diameter, although they can be larger. The cystic spaces are characterized by well delineated walls 1 to 3 mm in thickness. The cysts are air-filled and appear lucent in comparison to normal lung parenchyma. Honeycombing is a manifestation of end-stage lung fibrosis. HPO:probinson owl:Class HP:0100808 biolink:NamedThing Gastric diverticulum An outpouching of the gastric wall. tmpxe7fu0cj_hp_relaxed.owl Stomach diverticulum MSH:D013273|UMLS:C0038355|SNOMEDCT_US:75198005 Gastric diverticulum may be asymptomatic or may present with a vague sensation of fullness or discomfort in the upper abdomen, or with acute upper gastrointestinal bleed or perforation. doelkens 2011-06-09T01:43:31Z human_phenotype owl:Class UBERON:0014411 biolink:NamedThing greater sciatic notch On the dorsal border of the wing of the ilium , at it's junction with the shaft is a cut away. This forms the Greater sciatic notch. The sciatic nerve runs over the notch in passage to the hindlimb. tmpxe7fu0cj_hp_relaxed.owl incisura ischiadica major|greater sacrosciatic notch FMA:16902 uberon owl:Class deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium[HP:0010456]. HP:0002083 biolink:NamedThing Migraine without aura Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. tmpxe7fu0cj_hp_relaxed.owl MSH:D020326|SNOMEDCT_US:56097005|UMLS:C0338480 The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (PMID:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis. human_phenotype owl:Class HP:0500217 biolink:NamedThing Increased CSF aspartate concentration Abnormally increased levels of aspartic acid in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High aspartic acid levels in cerebrospinal fluid|Increased CSF aspartic acid concentration 2019-02-25 19:32:03+00:00 owl:Class HP:0032010 biolink:NamedThing Basic constant exotropia Constant exotropia for near and distance, presenting after 6 months of age. tmpxe7fu0cj_hp_relaxed.owl Basic (constant) exotropia 2018-07-22 15:39:30+00:00 Typically infantile constant exotropia suggests presentation at 6 months of age or younger, while basic constant exotropia suggests later presentation (older than 6-12 months). (OHO 745 & 750). peter owl:Class HP:0011950 biolink:NamedThing Bronchiolitis Inflammation of the bronchioles. tmpxe7fu0cj_hp_relaxed.owl MSH:D001988|SNOMEDCT_US:4120002|UMLS:C0006271 peter 2012-06-21T08:36:11Z owl:Class HP:0031108 biolink:NamedThing Triceps weakness A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements. tmpxe7fu0cj_hp_relaxed.owl 2017-06-09 10:13:45+00:00 peter owl:Class HP:0030943 biolink:NamedThing Vulvodynia Pain in the vulvar area tmpxe7fu0cj_hp_relaxed.owl Vulvar pain 2016-12-14 13:34:48+00:00 robinp owl:Class HP:0006581 biolink:NamedThing Depletion of mitochondrial DNA in liver An abnormal reduction in the number of mitochondria in hepatocytes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025018 owl:Class GO:0061938 biolink:NamedThing protein localization to somatodendritic compartment A process in which a protein is transported to or maintained in a location within the somatodendritic compartment. tmpxe7fu0cj_hp_relaxed.owl somatodendritic protein localization dph 2017-09-08T13:22:26Z biological_process owl:Class MPATH:36 biolink:NamedThing calcium deposition Intra or extracellular deposition of calcium usually as calcium phosphate. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0008124 biolink:NamedThing Talipes calcaneovarus A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus. tmpxe7fu0cj_hp_relaxed.owl MSH:D000070558|SNOMEDCT_US:30449003|UMLS:C0265646 owl:Class HP:0009727 biolink:NamedThing Achromatic retinal patches Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina. tmpxe7fu0cj_hp_relaxed.owl Punched out areas of chorioretinal hypopigmentation UMLS:C1860710 peter 2009-01-31T10:49:15Z human_phenotype owl:Class HP:0100356 biolink:NamedThing Contracture of the metatarsophalangeal joint of the 2nd toe The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022129 human_phenotype owl:Class HP:0003863 biolink:NamedThing Angulated humerus tmpxe7fu0cj_hp_relaxed.owl Angulated long bone in upper arm UMLS:C4025546 human_phenotype owl:Class HP:0000074 biolink:NamedThing Ureteropelvic junction obstruction Blockage of urine flow from the renal pelvis to the proximal ureter. tmpxe7fu0cj_hp_relaxed.owl Pelviureteric junction obstruction|Ureteropelvic junction stenosis MSH:C537373|SNOMEDCT_US:95575002|UMLS:C0521619 owl:Class HP:0000452 biolink:NamedThing Choanal stenosis Abnormal narrowing of the choana (the posterior nasal aperture). tmpxe7fu0cj_hp_relaxed.owl Narrowing of the rear opening of the nasal cavity|Coanal stenosis UMLS:C0584837|SNOMEDCT_US:306963008 human_phenotype owl:Class HP:0004817 biolink:NamedThing Drug-sensitive hemolytic anemia A form of hemolytic anemia that is triggered by ingestion of certain drugs. tmpxe7fu0cj_hp_relaxed.owl Drug-sensitive hemolytic anaemia UMLS:C4025289 human_phenotype owl:Class HP:0002023 biolink:NamedThing Anal atresia Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. tmpxe7fu0cj_hp_relaxed.owl Imperforate anus|Absent anus UMLS:C0003466|SNOMEDCT_US:204731006|MSH:D001006|Fyler:4443|SNOMEDCT_US:204712000|Fyler:4402|MEDDRA:10002120 HP:0001550 human_phenotype owl:Class HP:0003113 biolink:NamedThing Hypochloremia An abnormally decreased chloride concentration in the blood. tmpxe7fu0cj_hp_relaxed.owl Low blood chloride levels UMLS:C0085680|UMLS:C0595901|SNOMEDCT_US:10399008 human_phenotype owl:Class HP:0100725 biolink:NamedThing Lichenification Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:19940005|UMLS:C0023653|SNOMEDCT_US:402237006 doelkens 2011-06-06T04:18:53Z human_phenotype owl:Class HP:0025422 biolink:NamedThing Pleural cyst A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 12:33:15+00:00 Pleuropericardial cysts usually are congenital anomalies. after the third week of gestation, the mesoderm separates itself to form pleural, pericardial and peritoneal spaces. Incomplete partitioning can result in a pleuropericardial cyst. HPO:probinson owl:Class HP:0031314 biolink:NamedThing Carotid artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery. tmpxe7fu0cj_hp_relaxed.owl 2017-08-26 21:52:52+00:00 peter owl:Class HP:0410258 biolink:NamedThing Neutrophilia in absence of infection An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders. tmpxe7fu0cj_hp_relaxed.owl 2018-10-19 19:23:14+00:00 owl:Class HP:0032001 biolink:NamedThing Pink urine An abnormal pink color of urine. tmpxe7fu0cj_hp_relaxed.owl 2018-07-15 21:57:17+00:00 Pink urine color may indicate blood or be a consequence of the ingestion of certain food such as beets, blackberries and rhubarb. peter owl:Class HP:0008788 biolink:NamedThing Delayed pubic bone ossification Delayed maturation and calcification of the pubic bone. tmpxe7fu0cj_hp_relaxed.owl Delayed maturation fo pubic bone|Delayed mineralization of pubic bone|Absent pubic ossification in infancy UMLS:C1861528|UMLS:C1866710|UMLS:C4280411 HP:0008795|HP:0008827 human_phenotype owl:Class HP:0005413 biolink:NamedThing Increased alpha-globulin An abnormally increased level of circulationg alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:124022007|UMLS:C1167806 human_phenotype owl:Class HP:0007494 biolink:NamedThing Discrete 2 to 5-mm hyper- and hypopigmented macules tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851552 human_phenotype owl:Class HP:0008848 biolink:NamedThing Moderately short stature A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex. tmpxe7fu0cj_hp_relaxed.owl Short stature, moderate|Moderate short stature UMLS:C1861519 HP:0008891 human_phenotype owl:Class GO:0003277 biolink:NamedThing apoptotic process involved in endocardial cushion morphogenesis Any apoptotic process that contributes to the shaping of an endocardial cushion. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves. tmpxe7fu0cj_hp_relaxed.owl apoptosis involved in endocardial cushion morphogenesis dph 2009-10-20T09:37:03Z biological_process owl:Class HP:0011345 biolink:NamedThing Moderate expressive language delay A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3532933|SNOMEDCT_US:62211000119103 peter 2012-03-01T08:45:49Z owl:Class HP:0031580 biolink:NamedThing Tessier number 8 facial cleft The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae. tmpxe7fu0cj_hp_relaxed.owl Tessier facial cleft number 8 2017-10-14 12:46:25+00:00 peter owl:Class HP:0100130 biolink:NamedThing Small epiphysis of the proximal phalanx of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl Small end part of the innermost bone of the 2nd toe UMLS:C4022291 doelkens 2010-06-24T10:06:29Z human_phenotype owl:Class HP:0030169 biolink:NamedThing Gastric varix Extreme dilation of the submucusoal veins in the stomach. tmpxe7fu0cj_hp_relaxed.owl Gastric varices SNOMEDCT_US:91109007|MSH:D004932|UMLS:C0017145 owl:Class HP:0006575 biolink:NamedThing Intrahepatic cholestasis with episodic jaundice tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025019 human_phenotype owl:Class HP:0012436 biolink:NamedThing Nonocclusive coronary artery atherosclerosis Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries. tmpxe7fu0cj_hp_relaxed.owl Nonocclusive coronary artery stenosis|Nonocclusive coronary artery disease|Non-occlusive coronary artery disease|Non-occlusive coronary artery stenosis UMLS:C4020725|UMLS:C4020724 peter 2013-11-23T08:50:05Z human_phenotype owl:Class HP:0041150 biolink:NamedThing Fractured cuboid bone A partial or complete breakage of the cuboid bone. tmpxe7fu0cj_hp_relaxed.owl bone cuboid bone owl:Class NBO:0000542 biolink:NamedThing polydipsia "A pathological drinking behavior characterised by large intake of fluids by mouth, usually due to excessive thirst that is relatively prolonged." [NBO:GVG] HP:0001959|MP:0001426 tmpxe7fu0cj_hp_relaxed.owl 2011-04-10T10:41:10Z George Gkoutos behavior_ontology 'participates in' some ( 'regulation of drinking behavior' and regulates some ('liquid consumption' and has-input some ('liquid substance' and has_quality some 'increased mass')) and owl:qualifier some 'temporally extended') owl:Class HP:0002243 biolink:NamedThing Protein-losing enteropathy Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0033680|SNOMEDCT_US:22542007|SNOMEDCT_US:66972006|MSH:D011504 Affected individuals may present with peripheral edema, diarrhea with or without bleeding, abdominal pain, and/or weight loss. Protein-losing enteropathy is not a disease but is a manifestation of a number of gastrointestinal diseases and can be related to factors such as lymphatic obstruction, mucosal disease with erosions, ulcerations, or increased mucosal permeability to proteins. human_phenotype owl:Class HP:0005498 biolink:NamedThing Midline skin dimples over anterior/posterior fontanelles tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855690 human_phenotype owl:Class HP:0003532 biolink:NamedThing Ornithinuria An increased concentration of ornithine in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025602 human_phenotype owl:Class UBERON:0001078 biolink:NamedThing pedicle of vertebra The two short, thick processes, which project backward, one on either side, from the upper part of the body to the laminae. tmpxe7fu0cj_hp_relaxed.owl radix arcus vertebrae|vertebral pedicle|vertebra pedicle|pediculus arcus vertebrae|pedicle of vertebral arch|pedicle FMA:11950|MA:0001458|OpenCyc:Mx4rvYdjdJwpEbGdrcN5Y29ycA|NCIT:C96274|UMLS:C0223080 http://upload.wikimedia.org/wikipedia/commons/d/d0/Pediculusarcusvertebrae.png uberon owl:Class HP:0006926 biolink:NamedThing Metachromatic leukodystrophy variant tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024961 HP:0007079 human_phenotype owl:Class HP:0012002 biolink:NamedThing Experiential epileptic aura Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. tmpxe7fu0cj_hp_relaxed.owl Experiential aura|Experiential auras UMLS:C4023087 hecht 2012-07-20T11:50:13Z owl:Class HP:0006949 biolink:NamedThing Episodic peripheral neuropathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C1848695 human_phenotype owl:Class PATO:0001547 biolink:NamedThing quality of a gas A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity consisting of particles that have neither a defined volume nor defined shape. tmpxe7fu0cj_hp_relaxed.owl gaseous quality owl:Class HP:0030259 biolink:NamedThing Hypopigmented genitalia Localized or generalized decreased genital pigmentation. tmpxe7fu0cj_hp_relaxed.owl Decreased genital pigmentation UMLS:C4022553 This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hypopigmentation can affect other parts of the body or be restricted to the genitalia. Genital hypopigmentation can be generalized or localized. Localized hypopigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hypopigmentation may be more difficult to determine and is therefore a subjective manifestation. owl:Class HP:0033219 biolink:NamedThing Glomerular hyalinosis away from the vascular and tubular poles Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. tmpxe7fu0cj_hp_relaxed.owl 2020-10-24 12:22:00+00:00 Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. peter owl:Class HP:0030510 biolink:NamedThing Combined hamartoma of the retinal pigment epithelium and retina tmpxe7fu0cj_hp_relaxed.owl UMLS:C1862062 owl:Class HP:0030756 biolink:NamedThing Erythrodontia Reddish, brown opalescent discoloration of teeth in normal light. tmpxe7fu0cj_hp_relaxed.owl Red teeth UMLS:C4280783 This feature is characteristic of Congenital erythropoietic porphyria (CEP), an autosomal recessive disorder caused by mutation in the gene that codifies uroporphyrinogen-III synthase, leading to porphyrin accumulation in many tissues. owl:Class HP:0012810 biolink:NamedThing Wide nasal base Increased distance between the attachments of the alae nasi to the face. tmpxe7fu0cj_hp_relaxed.owl Increased width of nasal base|Broad nasal base|Wide nasal base|Increased width of base of nose|Broad base of nose|Wide base of nose UMLS:C1849667 There is a marked difference in width of the nasal base depending on ethnic background. hecht 2014-05-25T05:59:12Z human_phenotype owl:Class UBERON:0005422 biolink:NamedThing pelvic appendage apical ectodermal ridge An apical ectodermal ridge that is part of a pelvic appendage bud. tmpxe7fu0cj_hp_relaxed.owl AER hindlimb|apical ectodermal ridge pelvic fin bud|lower lmb bud apical ectodermal ridge|apical ectodermal ridge hindlimb|apical ectodermal ridge hind limb|leg AER EMAPA:16892|EFO:0003681|TAO:0001385|ZFA:0001385|VHOG:0001066|EHDAA2:0003194 uberon owl:Class An ectodermal thickening at the end of the hindlimb bud in the developing embryo. [TFD][VHOG]|Apical ectodermal ridge that is part of the pelvic fin bud.[TAO] Pectoral and pelvic fins are homologous to the tetrapod fore and hindlimb, respectively. (...) The zebrafish AER [apical ectodermal ridge] is an apical ectodermal thickening at the distal tip of the fin bud and consists of wedge-shaped cells of the basal stratum. The AER is observed only transiently, and from 36 hpf onwards the cells of this region form the apical fold (AF), which consists of a dorsal and a ventral layer of cylindrically-shaped ectodermal cells extending from the anterior to the posterior fin margin. Despite the change in shape, the AF still carries out the same functions as the AER. Indeed, although the AER receives its name from its characteristic shape, being composed of a pseudostratified ectoderm in the chicken and a polystratified ectoderm in the mouse, this independence of AER morphology from its function is also observed in tetrapods. The AF also expresses similar molecular markers to the tetrapod AER, suggesting that it fulfills similar functions in the fin as the AER does in tetrapod limbs.[well established][VHOG] CL:1000447 biolink:NamedThing epithelial cell of stratum germinativum of esophagus A basal cell that is part of the epithelium of esophagus. tmpxe7fu0cj_hp_relaxed.owl basal cell of esophageal epithelium FMA:70731 cell owl:Class N19bb9f1a93724d13afef1fbba7ec5e23 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N98ffad71fdc74513bc1d7ce12e7e1f7b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf7579b17ff544787ae721b3d3fa67228 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0fbe331daba74efc9f68d139497268a0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc6ab020ad7844c16ad5ccfc2f820f003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2b0b436441ad46ddae0dce8dbea7d605 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf8a2e7b51d2342ffb8781dce76c4cc8a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb4ffcee4a605457486a8ebcf49a0bd63 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N29f3056614cf4f4898da30c0580c0aad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N23e13eff378845baa702552b27ef019a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5a76ada138384d2c89377c6cb2605d72 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1644866c5740440183fccf6403381b6d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N69219afd00ba4910b8b905acaabbc41c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N165757140e904bccb4f96167b003a91f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc89fdb71bb0a4bab982d8d1b6b5f9081 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1b808e577945480d99e2793e2c49e3e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N35f17c29f3204177838dab548747d69b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfdce8609be8c478c85c4fc8fb9f1d808 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9cd5d12cc0b44d909b13effedf9c3311 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na85b27bd2bbb4c94a20c237e686fc033 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N291094586e3e4525aabc18de3327b356 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1414047c46734e8e94272e7de5f4f420 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0032362 biolink:NamedThing Increased circulating corticosterone level An abnormally elevated concentration of corticosterone in the blood. tmpxe7fu0cj_hp_relaxed.owl 2019-02-23 17:25:15+00:00 peter owl:Class N998ee5588bb84b71954691f25129a2c1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001809 biolink:NamedThing Split nail A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature. tmpxe7fu0cj_hp_relaxed.owl Longitudinal splitting of nail UMLS:C0263530|SNOMEDCT_US:85136002 This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments. human_phenotype owl:Class N8f34581050c74fa4b01c5e0bdd9e3bc8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nccc0104efb9a4c72938540248b0366ae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9dd81403e43648da9dba7c9f1c06bcec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc6118514771d4761939127c9d8ff06eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011249 biolink:NamedThing Absent antitragus Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023443 The size of the antitragus is highly variable. peter 2011-12-18T12:13:00Z human_phenotype owl:Class N7631d634602548e2bbbd4bdbb1d3c489 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4ad7bd67059d4c798efce187a4aacb05 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0423f489bd844fafaa57d7c946316486 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc013d4f7805a4e0ea9742afb6eee5ded biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N43cb8216a0134e69bbacc5aa9e51bb77 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3962a591517241d1902dc7a7f74c798a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf43db0750541444a8456ca0255e59b10 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3537fdff13f44b45871fa6e1ad8c058c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9f26949c918f455b9dd6e4d0a25345d1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8652918d251e438688da4c9fcd224191 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc9fac47adf6f432b8ad66e2fa382dfc2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7ffe918a568f45f09f4590d415097f42 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd797f5dc37a0487b9d6a14d1ba761b20 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8d78e450c945442ead26bac381842718 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc226df02900d43ea836de826ae23d261 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8032daadbeaf4cff89ee830548c1175d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9e7bfdfcbb7d4693ac9bd879bbd60901 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc010d5f29f104cc391b193e5e9a83e4b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfe13f64f0d7c4ac4860b9e562f218e3c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8d0a2682b266403c9d36d7906fda880f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne62f232a994e461eaa390d80fce83df8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8b0d6f7442a94da1bf310f5e614d09d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne25da481993f429b9a21e36c0d2d6b1a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndc8ac617442b4a60b49e1c613795ad46 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9dc13667645c449d83730bfee1729580 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na6a3c7f886444aa69b2161589f3e6aa7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N42e9fb3b930e42fea92d82099c9108c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5abaf64525c24d78a575bc235742bd89 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N031878015bed4f04b8f9b5d1b6d13272 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N69f6a9cd05174f2aac6e7a9a25fb6daf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N87e965334f3248b195e19e91afc7772e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006402 biolink:NamedThing Distal shortening of limbs tmpxe7fu0cj_hp_relaxed.owl Short outer part of limbs UMLS:C1840307 human_phenotype owl:Class N636f24ce253c46feba09645ffc864206 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb5e45ac5fbc84842923711e491abbc0e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndce5d779c1794e9796f1f2e3deec4e2a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N701abbe9a7b34ab2ac5829d74b9431bd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035021 biolink:NamedThing right vagus X nerve trunk tmpxe7fu0cj_hp_relaxed.owl posterior vagus X nerve trunk|right vagus neural trunk|trunk of right vagus FMA:18151|EMAPA:37799|MA:0001152 uberon owl:Class Nf9b38bda62e545068e12bee8d0ec5900 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0000650 biolink:NamedThing mesangial cell A cell type that encapsulates the capillaries and venules in the kidney. This cell secretes mesangial matrix that provides the structural support for the capillaries. tmpxe7fu0cj_hp_relaxed.owl kidney mesangial cell FMA:70972|BTO:0000853|CALOHA:TS-0617 Do all of these cells really develop from some mesenchymal stem cell? cell owl:Class N1b4b6674905e421db187dfb5cfa97b28 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N45f78efd8f0f4605ba128c894bba7957 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N75438c612dd54e9aa55944bac67db920 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf3831e92608c48da98fb9d20fb9b3601 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N40c583b4be2d4acc9b627db59231f9f4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8a1e8541438d452a9d8397d5ac5417dc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na9b33959ef124707adfd2443197deb56 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N06eebedb72b34768ac9ff997af92fe39 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0fd20e9766aa451285d1ae4fd8dfd9cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf10b1d6a31be4d91be6a77ba7e234d9f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010380 biolink:NamedThing enteric nerve The neurons that innervate the esophagus, stomach, small and large bowel. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37479|MA:0001145 uberon owl:Class Nafddf0c581c94c9aacd2c6463ddc2c2d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1ed8bba84ef14f9dba01c2d711f4dfd1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfffe898399704d039648969f8bee91d0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfc1813ca22634b3b8c598dd3ecdb8201 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012893 biolink:NamedThing Neck muscle hypertrophy Muscle hypertrophy affecting the muscles of the neck. tmpxe7fu0cj_hp_relaxed.owl Overgrowth of neck muscles|Hypertrophy of cervical muscles|Hyperplasia of neck muscles|Increased size of neck muscles|Large neck muscles UMLS:C4022690|UMLS:C4280306 peter 2014-06-23T10:59:17Z human_phenotype owl:Class N54a5edbb97fb402a999634af1d364310 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndc18f481148e4fd5b9e0a13a967abb33 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N88ea7a4b8dbe4eefbc571644f39d16a7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2d9f81f98fcd49c3bd269f3591f6296f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N934f0c82897c4d0d8c24c6e79b0a51bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N69527a6d33ce45808c3e1f3714cc19cf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N25d9ecc8acc84cb6a0255d8265f1d3fb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8e0e997d67ef419b92972f372bbc35f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1ae4600278294f7e99e9a4e998a6ecbd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N587c8095de0544ecaf0d0f032d45c7a9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naa8cc4f2bfca47e394a48f18fbd8f8ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nac9f091a42f34e39808d7bd8c6bef0d1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N989db48544ec488899dcd0f6e1f785f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3cb5643017b84e6d84a0e93c8d0ea0ff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne92e2bb8b160431eb6c983f703eddd2e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N45e21f518617473fa4938e3afde36c9d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100797 biolink:NamedThing Toenail dysplasia An abnormality of the development of the toenails. tmpxe7fu0cj_hp_relaxed.owl Dysplastic toenails|Abnormal toenail development UMLS:C3276623 doelkens 2011-06-08T04:23:37Z human_phenotype owl:Class N990dd6c16e294fdbb0e86cb16209b89a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N717d529ec7dc4f2f8ddb43ab6dfcbbd4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc5d60412f3c24867892bb71326d61718 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf827b29c98f14b439624711e5986aa8f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N75cc553b7d654086936aefc0bccd641d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005237 biolink:NamedThing Degenerative liver disease The presence of degenerative changes of the liver. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025230 owl:Class Ne6cda4ae1c3d4f259683e0c18efcce65 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0e048e1627c34f56b5bbddb509a32077 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N81fcf9844c9c43b3bdc148fc137803eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N36622106da4349a7ba8d21dbf03cb51c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N82b18b92992841deb3fb80b0dc85c0e4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9ba64115c3ea4de0b724236fd41ab582 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N08a06b128d494784b9473b36d416b1c0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N75431b4a9bfa483b891c5dcdff506a8a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8588588dae84422e8d3ba874c3f3bd97 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7c9ba5de2a8b4044a8151713b9338ff8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005662 biolink:NamedThing 4th arch ectoderm An ectoderm that is part of a pharyngeal arch 4. tmpxe7fu0cj_hp_relaxed.owl 4th pharyngeal arch ectoderm EMAPA:16762|RETIRED_EHDAA2:0000094|EMAPA:16768|VHOG:0001095|EHDAA2:0004032|EMAPA:16764 uberon owl:Class In all vertebrates, the pharyngeal apparatus develops from a series of bulges found on the lateral surface of the head, the pharyngeal arches, which consist of a number of different embryonic cell types. Each arch has an external covering of ectoderm and inner covering of endoderm, and between these a mesenchymal filling of neural crest with a central core of mesoderm.[well established][VHOG] UBERON:0014390 biolink:NamedThing muscle layer of ileum A muscular coat that is part of a ileum. tmpxe7fu0cj_hp_relaxed.owl smooth muscle of ileum|ileal smooth muscle|muscularis propria of ileum|muscularis externa of ileum BTO:0005574|FMA:14958 uberon owl:Class Ne8f1ef00f3a748bc81379cafc57d64ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na5bbc763c7974a01847dd9f24734cd2b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nffa425f77b6144b58ab5d11c41061629 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9f2159b0550d4d45b72c70251d94adb0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nefba71d1e53b4debaeb132085b8deed6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4f2d4505b2a74e55859137ce0d9de9e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1a405828d92d4fa989f67fddaac0da86 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd60ca83091fa4dcba418d17d189bb747 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9006f3541cbe482aad1aa18f0005faf0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na0739934a30c4a9fbd384b219116596e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne94a41ded9ed4ad5b84efc1a0da39dbf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N158dcd42e4224b5bba90add9caf79745 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndb502da30ca3413aa9167a7b4714bfcc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc5f1e993e6654e91bebab8966fab633b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N53b006e7a7cc4467a534103492b4b0ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N569383ac2b60405e944b59be096a926a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4b5cb427fe9b444e922f440f07fa882b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne612ae1fe6814c65b0b8f8e45d6ca396 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne388d0f5059e41f785e7a2f09642db23 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb5949cc62e764a3fb34b03991a63a1d6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N96406850005b480999f6ba39a96890cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7a0392f1bc5347b2962dde8909be37e2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008780 biolink:NamedThing Congenital bilateral hip dislocation tmpxe7fu0cj_hp_relaxed.owl UMLS:C0158713|SNOMEDCT_US:10155006 human_phenotype owl:Class Nac5d7b042f8c4cb7a39b1d01cf0420fa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N470d3b6124b0436cbb25d17098868a63 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N336e3ee8d60e406b8828265ee3b940d0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncb8e6f034b774511bf95cdc2426fcaf8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N949d719ec4d142a9b09df1fc298ceea8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2ac672beb60c439db92952dfe45e2e40 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N42f306221b6d4eeaba5fa339d8351a4b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005290 biolink:NamedThing Internal carotid artery hypoplasia tmpxe7fu0cj_hp_relaxed.owl Decreased size of internal carotid artery|Small internal carotid artery|Aplasia of internal carotid artery|Hypotrophic internal carotid artery|Deficiency of internal carotid artery UMLS:C1855736|UMLS:C4280491|UMLS:C4280493|UMLS:C4280492 human_phenotype owl:Class N166caee5ef7445d494dcbc8b69dc2f74 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3eb28858eb0c447885c91ea44349bf96 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0c6117a90b684e7cbd068be73bec1edc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na80946fc57ad4ba5ae70795d6062a802 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7e05cbfafb5f43629208aecfef407e03 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb8ad1c765f354aa8bb692e10ad99d581 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3eef5857b4424c73a5e98cc54436b203 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:1903729 biolink:NamedThing regulation of plasma membrane organization Any process that modulates the frequency, rate or extent of plasma membrane organization. tmpxe7fu0cj_hp_relaxed.owl regulation of plasma membrane organisation|regulation of plasma membrane organization and biogenesis al 2014-12-10T18:59:44Z biological_process owl:Class N61cf0cd0fd254da0bc44b79c69a3f1b3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N96d82b2dc36348e995b5b6bf6f5001b8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4d59a390f5804ca5ab387eb0cd86db82 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na7a063a31b284c1fa31c3f848c6b8c8d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7935b038cd5943cf9c047b60dc696387 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ned967bc2dcfe4d12849990f62c56d365 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne19bb4654dcd43e9ad350c8f3caf1f81 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6c12da60f63c45aab7bb01000fb44f6a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc302e99c145a4b26a323b395df1fddae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7edbab4f4b9d4ce3a710aebe9ff0a3c6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N224712775d074005aa2deacd4e9ded42 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8f6cc58f27ec4402b3c0d35615ef1b4d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb8dd38d9f1e54575bd54922de370e546 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndb94552bc46c4914ab11225e5a466d00 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nccb6f5cf9049461a9ba75ec0f103957a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5e33f5da858d4327982b131a90caad95 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf5eae842aadb4748a652812687783e0a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4a49853ae1e042dd8fb8657add8d3b1b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5fa0a276984a45589768b4e021ae776e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008000 biolink:NamedThing Decreased corneal reflex An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. tmpxe7fu0cj_hp_relaxed.owl Reduced corneal reflex|Decreased blink reflex MSH:D012021|UMLS:C0151572|SNOMEDCT_US:103254005 human_phenotype owl:Class Nd54e58b3417e445da54cedea162a2776 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc51e4e43a60a44728b7290f6873e8b64 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndd16bb059dce40fc80eb7b93d57749c7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2385fad122044bc6b9294bbd5ab291b3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf947a5ba4a8f4982af3d54147b2a4766 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na498fb4a91154adbaa08a351c2dc56a9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf4e5c4a913c346848cb134f02642ce80 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N03548978f25644a0bdfd4cc315ace80b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4920dfab81554fbe90d53438635cb240 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N529a0fab2faa4cae818c61ca16dc0fb1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb0e62a986c5b4761bc25ee182a108426 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N07c27c8443ac49d889aa3096b729b08d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na848697e10684c31a932a75d01b389b8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9abc32542437487091cda232876069f4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0ee0749ff8d24bed8b609c93c525c556 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N194ddbe9815d402d92151387c3c419eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd516c9167b044ef493fea365264d0422 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6bdc8e48214743b889a8329fd5cc1b60 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfb697862b2ed46a8897425df33728bd5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7413c39c4446491c985fbfaab25e256a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd605a4c20b8e4905bb081011cb7dc903 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3a7aa39d6bc34823a0870731843b3686 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6154c1a89b1142f19bbaf8c7bccabd95 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N60c8b52043a049b488b6f7263a002640 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8b9c5c26fba74c8a9c0c4444cad18ff3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1b10ffc615ba464b9e2abeccf7da2854 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N013bd0d2ed4a470387954eaf01b7a5af biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb7d6afb2db864d92bb86779161e2d08d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N25cd53fee2cb429f8fcd921cad036084 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na29d6e188cf14997bd03b64fb4a1358b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8054244ed50945fd9187811b17daac65 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5b7c7abdd2c84756a9acc31c701c1700 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1b7e295d053f46e8a7189838be4c3cf3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne33a18556f1f43189c7e0920b227c687 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012101 biolink:NamedThing Decreased serum creatinine An abnormally reduced amount of creatinine in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased serum creatinine|Low blood creatinine level|Reduced creatinine levels SNOMEDCT_US:166715006|UMLS:C0428282 hecht 2012-08-22T08:42:16Z human_phenotype owl:Class N067350d16d5e4e9d8006af2ad2fe4e6c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6087297ad0e147e29e0f1cd210435a85 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na0e509163e644b04a20794ce6f9756f9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004576 biolink:NamedThing Sclerotic vertebral endplates Sclerosis (increased density) affecting vertebral end plates. tmpxe7fu0cj_hp_relaxed.owl Endplate sclerosis UMLS:C1859698 owl:Class N8550412ce93a48df9ba1b66e3e8d2505 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N345543444ee84900ab579e26bbb26d81 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4b9f0e5b8e1448b5837ea68079391e24 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N68ec0b90e0e0430fbebf85d0da9eae25 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N66aa1fde3f064332b0fe4ff994197a08 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0889ec3e9b1648e887a4a7c9eab26c68 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne99f546a005a4d65ba5817282bc3604a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N61ef9051e0174f86b08ded6eeaad70e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd965205bac504c2eb615355bc4d4d6f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc7ee6f42f78244af8b40c7fd99fbde5f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncc327501e29b40258a3b42a1c2a234d2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000456 biolink:NamedThing Bifid nasal tip A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. tmpxe7fu0cj_hp_relaxed.owl Bifid tip of nose|Notched tip of nose|Notched nasal tip|Cleft nasal tip|Cleft tip of nose UMLS:C4020890|SNOMEDCT_US:249326006|UMLS:C0426428 This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. HP:0005282 human_phenotype owl:Class Na3504cd399b442eab0ef3014c4d85cf5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N10b8f64fba5140f8b360b9e0eedcfc90 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc4afbc23f06744c1ab506d3d62a6092f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N83c663a80fb34d52a99bb0e8b5c34fbf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf72f2c1df1b846e4aba28c3485a6a9ae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8ba80ac551d64627ae1036a811bcb28a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb0fac5c57e3e413fbd51b1b7b06724e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6b5637fa30794ed8b0050153ab932295 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006739 biolink:NamedThing Squamous cell carcinoma of the skin Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. tmpxe7fu0cj_hp_relaxed.owl Squamous skin carcinoma UMLS:C0553723|SNOMEDCT_US:254651007 HP:0007614 human_phenotype owl:Class N4297c89dc8cb4fb2b93ddc716554122d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5fa449cc262e40fe9d6857c8d6e915ce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N23b6264bbc9f466696199ee4a898d4c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N10884bbd9bf945f5a0993e403775fbc5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nba0ef2c943dc427eaf9a50b4de122dc4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N55c26f6570ac4bc7bebfa132a8520308 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb09d528b56e9408b93ba0533f2d601f4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne4fda3ef7c5b45e3a58bcb70da084436 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3d7741bf00504a6fa494a76b1670ca88 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005873 biolink:NamedThing 2nd arch pharyngeal cleft A groove that is situated between the 2nd and 3rd pharyngeal arch. tmpxe7fu0cj_hp_relaxed.owl 2nd arch branchial groove|2nd arch groove ectoderm|2nd pharyngeal cleft|2nd pharyngeal groove|2nd pharyngeal groove ectoderm|2nd branchial cleft|branchial groove of 2nd arch EHDAA:613|EHDAA2:0000057|EMAPA:16396|VHOG:0000972|VHOG:0000568 uberon owl:Class N6bbe613be7f64648b60d90bc8970c440 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9c5ea78302254ba9943264f408682c0e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb8da58aeddec469fa92f5ce1fcb15922 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4787f30069fc49d1a5510c7537988a47 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0ee4ca37605c4504aec890a6ae8f5a5c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na87774f270444855b258bee714207600 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4ca22fc225b041eda52c05f81dfb0bc3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3969aec5b483454096e9b12883b430b7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N73c28016ac4645258edf9d22a55965d7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N88936b8dd85f46969413b4c3a615c7bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7c0ce02374f643679f6d082f3e88f5db biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nce95f540676444259b30d19e269eeebe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7d3571cef2c04049a1ca494577d2f700 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nce9f9c6d7ef1475d84c11a1595b7808b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8fb683c2ec0f4100be754e3890decf8f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nda0abf93fe1c41e390fadafacb6a0da0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:7500037 biolink:NamedThing line from helix of outer ear to intertragus incisure An anatomical line of a ear that connects the helix of the outer ear to the intertragus incisure of an ear. tmpxe7fu0cj_hp_relaxed.owl https://orcid.org/0000-0003-2699-3066 uberon owl:Class Nbd80b658ca024e72a66b61c2882f0522 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb0d21735ea01477ea0c9c8aa2b9a7017 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5ea3755fe84741dcb9e4336f47f7875a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb0403d49aa9c4fd0a43337c4dec131af biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N108b82ef6bdf4d23a0ac4e046571990e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8ed432b2114c47ad9db4c62ba040e8e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4f9bb6e96d6c488f9f5cf6a1a1ea0386 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006461 biolink:NamedThing Proximal femoral epiphysiolysis Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt. tmpxe7fu0cj_hp_relaxed.owl Slipped capilal femoral epiphysis|Slipped capital femoral epiphyses|Slipped end part of innermost thighbone UMLS:C0149887|MSH:D060048 HP:0003000 human_phenotype owl:Class N618c596402a44b178508c2c5fe4919cc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:50298 biolink:NamedThing canonical deoxyribonucleotide residue tmpxe7fu0cj_hp_relaxed.owl canonical deoxyribonucleotide residues chebi_ontology owl:Class Ncf770f451af74ac0861a375c757712a5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N715fabf539904312bdcbb0e7501fd783 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N396826cdd7214005975b921614125931 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf184fabc37f640c3a4ca984f22b70dc1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5ecbd01f4a814df09a32448a83923a06 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N48e480cf41fc40c6981b94ed0cbe4e2c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:32727 biolink:NamedThing tryptophanate An alpha-amino-acid anion that is the conjugate base of tryptophan, arising from deprotonation of the carboxy group. tmpxe7fu0cj_hp_relaxed.owl 2-amino-3-(1H-indol-3-yl)propanoate|tryptophan anion|tryptophanate|trp(-) -1 C11H11N2O2 InChI=1S/C11H12N2O2/c12-9(11(14)15)5-7-6-13-10-4-2-1-3-8(7)10/h1-4,6,9,13H,5,12H2,(H,14,15)/p-1 QIVBCDIJIAJPQS-UHFFFAOYSA-M 203.21732 203.08260 NC(Cc1c[nH]c2ccccc12)C([O-])=O Gmelin:331342|Reaxys:4144998|Beilstein:4144997 chebi_ontology owl:Class Na5381dbf1f124f108038c7892ac8d87b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ned43a5f16aff4487b8b35bccfb5c2f86 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7b266ccfee1b4917a62786956488adb2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc8d2ecca90394724bc1361af06ea8f9f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na79bcbf6138a4cfc80f36e101181f4c2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndff7ec79199c42ecbc94dd03d4eaffe9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb6e51f78b9564b7ea9c423e7227a460c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N13820846df3243ba9b12a54cc6f883d2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncc1bf678b9db4cbe85cee6863fa3c4c4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003318 biolink:NamedThing Cervical spine hypermobility tmpxe7fu0cj_hp_relaxed.owl Cervical spine joint hypermobility SNOMEDCT_US:298186005|UMLS:C0574967 owl:Class N7533e9ae1692483f885434b18eddb98c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9789fba92ebd4612bfaeba4821ab0eca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbdf271056d1c48008af294bfe946bfb0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf51ece11bf304948b05b7c250f9ffc97 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc8f6967234864429a07e3a7bca8f008e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N79fff52f3baf4a40a51d54dd28125dc9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4a9e906eae5c4c0d8422cec8b6a6321d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4d8a686b39d046398566bde012ef5610 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1ddba479ec284efbb33c3f39a23ed0f0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9dfeb0f91b76444080020bc2192edc82 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne785b733f00a4729a1266326de3ae8d1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf0a6b0d0239f45638962cb779111e91a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0858dbdee11c48399035382c426446c6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N08851d2f36764916bd7ab9850f1af454 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004870 biolink:NamedThing Chronic hemolytic anemia An chronic form of hemolytic anemia. tmpxe7fu0cj_hp_relaxed.owl Chronic hemolytic anaemia|hemolytic anemia, chronic UMLS:C1387532|SNOMEDCT_US:707480001 HP:0004815 human_phenotype owl:Class N3fd6bc8e322146c3bd70778c48e6a730 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4adab4effba544be9f28cc74dd664f26 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N92a9ecbaf13a49e48b25399a0bd1e168 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndc2b2a5246194faaa000e27b592da45e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N322e5f1ffdaf4f4faebad108469156aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nee246a202d994f3fa07b14be45c793d2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne84287abbb884823b13cf63de84cf973 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc4ecde1f4b3245f1b8826e6f8d07ce79 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nea6cb20834654e34b75715296fbcb5d7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5bee65fbd3524046b7420155beba9502 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4bdba844e3b54c70a0c8d0a1bb135fdc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N73f28ac3e598424bbf452b1b797734ec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3d28bd8c1a6a44ce9c3251dd21b25959 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002057 biolink:NamedThing Prominent glabella Forward protrusion of the glabella. tmpxe7fu0cj_hp_relaxed.owl Convex glabella|Hyperplasia of glabella|Protruding area between the eyebrows|Prominent area between the eyebrows UMLS:C1860247 The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. human_phenotype owl:Class N68d8a996f96b43f5ae8ab8ae6ea1adf2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4bb0d1fe57974efcb82088440fc297ba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2e2ca4b7f8204fcf91c850b2a2f1f3cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N31671d7648b74ff7981d49d9486afa3c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008358 biolink:NamedThing Hyperprolinemia An increased concentration of proline in the blood. tmpxe7fu0cj_hp_relaxed.owl Prolinemia SNOMEDCT_US:59655002|UMLS:C0268528 human_phenotype owl:Class N0dabfa8c79e74e5e963db3b9e7dd82da biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf71f49c6da434dca9bb002426c44e8c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3a48b34ccf434623993eebd2071f6cdb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1eb77e98e2d5438388f0ca3e6ff8d111 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N760199d4de64481487bc618eca174459 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8faa00cc871245ba81025900a96ad9e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1f5de51e12ff4db4a4b906c0fb11e02a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb3bd9ba07ca34fe187efa6b48fbd06b8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N00a4c6d839ff44ae8b873567b5d3a952 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N89fbcc1270d64db7828b093fabb3bd2d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7846f978446847b8ad5dcdb290c2ebc9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2dbb5ae4a14d48ec83569123ad5ebce9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N18d08d2991b24ea28e170034367cde35 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N00db6d61c0ac44e9b0a269199ecf40c0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb88e72e32da744aebfe87751ba51e649 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7e11e03dd4084386b75e95df0079ff25 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N82a4598822f54ae1b422bf488b0acf6f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N67e8866c7a7043c5836565359cb5c6a9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neb08c078dd58449fbb64dbade5ee3cb9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf5941c5606754416840cdc3992cf075f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfd57f5b2e73548c3b95fb279439c503f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne9a25f2299f14d2d8511ad476b04ffac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N99855496515b457a9fed4fa82396fa8f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfb243fcca2c347199a0e8b489aa54f62 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5e2e005dd50e48b1873475afced4a431 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4f16dc6d6c4e492c834a3a6a21ec3ff1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb06931db5e1b422b93a33acfd1980577 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5cde5f45c1344589a78611fc3b5602e6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005739 biolink:NamedThing Posterior subluxation of radial head Partial dislocation of the head of the radius in the posterior direction. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3149878 human_phenotype owl:Class N128ce54013ca4143b41e1942ca80a0e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N69d3142962124245bddce21e486fed31 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N487232aadeff44a29a64aef9847bf0fc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne7a11a995877464b9ed0d8fea2b265b8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0036195 biolink:NamedThing muscle cell projection membrane The portion of the plasma membrane surrounding a muscle cell projection. tmpxe7fu0cj_hp_relaxed.owl bf 2012-04-20T10:21:51Z cellular_component owl:Class N5bc9e71f658f48ecb8eb80a1b31656c6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N364e8aec5dba470f92ef2ed1e387b033 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N02455b6e1fb942dfb662393edce18649 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na86084402bc8410480a9b9380e868262 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N28262b0e8b684c9bbec985a577810ca3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:35821 biolink:NamedThing anticholesteremic drug A substance used to lower plasma cholesterol levels. tmpxe7fu0cj_hp_relaxed.owl antihypercholesterolemic drug|cholesterol inhibitor|hypocholesteremic agent|cholesterol-lowering drugs|cholesterol-lowering drug|cholesterol-lowering agents|anticholesteremic|antihypercholesterolemic|antihypercholesterolemic agent|anticholesteremic drugs|antihypercholesterolemic drugs|antihypercholesterolemics|cholesterol-lowering agent|anticholesteremic agent|antihypercholesterolemic agents CHEBI:64906 chebi_ontology owl:Class Nc10d377135ec4a66ba029aa64a7c66c9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nec2a63a12c05423ba6b9703b4aa4d4a0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf6a4c242836048e6b8d01ca408cfa234 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N965828e2b60a4a67af3e14185b7d63ea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PR:P01275 biolink:NamedThing pro-glucagon (human) A pro-glucagon that is encoded in the genome of human. tmpxe7fu0cj_hp_relaxed.owl GCG|hGCG UniProtKB:P01275|Reactome:R-HSA-400456 Category=organism-gene. protein owl:Class N8f4d987176f340c99a43eb8a0087bdfb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N448bf10545044109a22d29cd42086ce7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N734dcbf0e85c45f18e100d068adb7ffb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005347 biolink:NamedThing Cartilaginous trachea tmpxe7fu0cj_hp_relaxed.owl UMLS:C1863363 human_phenotype owl:Class N8f405dd2a71647d78376e5f1b7324ecf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4cb1a0181d43498aac58f9bb112d6321 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbbd694d00ee949b79ec2c978d683ffdb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4b49be4df7ac4cc386c7170374c8b9e6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N28aa04ae4eea4b5889b9245fc591bf2c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf3a1719db30b469ca76e97de4cd9d939 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N55fd97b19e7a4399a5a1b922836dbd99 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1d88a9adb8034149aeb8463868f4b17e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6bcab90ef3174688a164de08361b272b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N71b7efa62be940ba8389a3f59fd2d227 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N39397741f033499589107981a6a89caa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008339 biolink:NamedThing microvascular endothelium tmpxe7fu0cj_hp_relaxed.owl BTO:0003122 uberon owl:Class N2494de6bfe984737ac648e7720891af3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N79d5afe816e34e3f81c5ff922c1f85df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N47d002490b4e49cf9513f4f64a15300f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na21bb677dfc0436ab89f4fd87eac2924 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8e5cda94e6af41638366e8554238f7f7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nad8623dc965f41eb862273ea9c9f57b9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne2ad2dff72b24dbeaefa1d2c99764b98 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7ce437c53bab44118d56ee583a0d492b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8e0e81ffe9b94f51941fb4bdecdf98f0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd97e32e9051d430d9cf35770333624e6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N31693c9c3c504b04ac08423bc22011d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndc8052c5c78c462d9566daf2ccb39a51 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000162 biolink:NamedThing Glossoptosis Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. tmpxe7fu0cj_hp_relaxed.owl Lingual retraction|Retraction of the tongue|Posterior displacement of the tongue UMLS:C4280678|SNOMEDCT_US:3639002|MSH:D065710|UMLS:C0267048 Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway. human_phenotype owl:Class N070a7ff664f24efa8264f420b3ae986e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006808 biolink:NamedThing Cerebral hypomyelination Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. tmpxe7fu0cj_hp_relaxed.owl Hypomyelination of the brain UMLS:C2677328 owl:Class Nacfae5386b9f465ebf6ae280bc2adf96 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N230d593315d544979eb329b317c7eb90 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8c6bc248f5bf4add9708af677946f844 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0032980 biolink:NamedThing keratinocyte activation A change in the morphology or behavior of a keratinocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. Upon activation, keratinocytes become migratory and hyperproliferative, and produce growth factors and cytokines. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N65d28dbb78554744bb5f41428aa54047 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N396dccd7a4094870bf1ba38df3882aea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne5599166979b4077ab43eace189f4be5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N01ab01612cdd49a8bb334222c7d51d3c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1cdf9f4de45b4c7caed9bfd742c48673 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nda19d332d60d4f26b205a48e746a9f3c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N96c1c4a5f0b64ba0a9659b369624a67f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3197967a031b4d279a860af2c5ec188d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6d1910bda51d4192bd291f5db3b7fa98 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021905 biolink:NamedThing forebrain-midbrain boundary formation The process whose specific outcome is the creation of the forebrain-midbrain boundary. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class Ne244566a171f42a7a4280cd30e851cd5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N76bebaf105224eec85363b731488cc86 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N33cfb345b3d3409583658417a6eac32f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N001f5b0ecc31487cb8170e2b8830ba7f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N926b3d1a7b284120926d24f4c0e27a97 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N528ce7e7e0ae44e59e4396811364538d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N564a910f298d47e3a53c0916bf2db065 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb7fe9437c9b240d98304e62e99e36221 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd785e529318b4bb8a92f9a2f7f806b4b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N198d847f48f9492287ee5a4c27657663 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5637157c6749421cb124b885173df817 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb93f1e3a4c0849c48a87f418204f3fcb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neb34d22692604db98e7f3ed68f8f7351 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N53c741dc59ff47ff9270a8d8585c4377 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2ca36007b3a242eabccafd67db4e9cbf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb66fac419a9e4bb39efea8e30c51cc8b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0032128 biolink:NamedThing Increased proportion of plasmablasts An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells. tmpxe7fu0cj_hp_relaxed.owl 2018-11-22 13:02:17+00:00 peter owl:Class N185c17cde31d4efd97e54c3698d2ee46 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndb90ffca6c8d4c1f8d9f68ddbad8c6dc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd0a5408a13b743f287b88f4988b01e75 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N67f09981044c42c8ab4b39dbcd0547ec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb3d2cd18ab4b40f4bd50e1bb2da59c11 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7dfab3e67f7c41f0af10697c9937d975 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N14f2bb4d9f6642cda93c856fe52b13fc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbf1b249836fc4d6581b419ac8317a663 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naf15da08e5b1427d825a574c9a843d3d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N507bb6616c4a442b8b55b91b3cb4f308 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0582fc55fc9e4b3e87ea05a51a8e3a4f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfee1cca380664ddab8c573526b92d813 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd8de170de815454eb0238e95f4a4aa80 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N93e4bbbd42b34e24a22f6c61531a4e9c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8ce97b02afb3414ab26307a537abd98b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5597866b3fb746a095c7481271d20b70 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf3f8a045a87f409f9672440b3e38f622 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na9b558e7f0484adc93fb72681a45748d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8885c9bc4603432cab2986d46882ff3a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N28779eed2e274a0a9a4bc1fd5a00ee4b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd1dd518482c84d4ab6aa3a1caaf8e08e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na52a1b06d30c4e589134ba8e249293fc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfa3c34a0acc94deb88d99acbb9b08cb0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1e1ac583faca46afaa9d6f0daee9181d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb671df2fe5f14933ae94cf938b247afc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6dffb3ce46144e17a4856cea736d75c1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8698199c76e140ac8a4bc9aab1dc9916 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na8acb357b73542eeaae4b2eb0745961c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0055088 biolink:NamedThing lipid homeostasis Any process involved in the maintenance of an internal steady state of lipid within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class N7850372d254243aa80c51b6e5c09ee17 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd79a0d6dd7ed4f75b2d6503327674c1c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N304ba412b3ed40218945b54418a062c7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nce5933469444481298eb87667fcb4539 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na05dca2143ed4ff891c6a59dd38f8087 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N85d03c6cc794454fbe7f3f7862fa7e31 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na41e756a456b449ba94674e423455b94 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N65472f65d4c441f5a7f551015688410e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N804112654e0143d191048cfcb4bf049b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8429568a929d424cbacb944f8e380efe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8c712c763ea64b71a1aa2d32160bb352 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne8dbd415117943da9c7754691334e7ca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N111db4283a144f0aa335b3440a3474b8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc564b4bea0e94544a64afae5ea8700c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc990322bf9774b44a9a230503e43bef6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0012292 biolink:NamedThing embryonic cloacal fold One of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly. tmpxe7fu0cj_hp_relaxed.owl cloacal fold EHDAA2:0004009 We presume this is distinct from AAO:0001003, an external integumentary structure - check with amphibian anatomy ontology developers. AO notes: the text def states mesenchymal swelling, EHDAA2 splits into mesenchymal and epithelial parts uberon owl:Class N06499d22ef4a4e64ba05f93b8f9cd84f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2b3a10c547c3477aae8691e4f503c47a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf9e94441d4a149e69d3d3aff3af31383 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0018411 biolink:NamedThing ligament of hip joint A skeletal ligament that is part of a hip joint. tmpxe7fu0cj_hp_relaxed.owl hip joint ligament FMA:42868 uberon owl:Class Nb65b86f09fca4308ba3372b290d96ef6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd03613da237546c0b6249e38abf2a580 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3fc4e9f294834d0483d929a8356c0691 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd9c130a633f5458aac0b6db4026666bf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb8c2d161170640ecaecb7f58882206ab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5abb0054f09c4f82869fdd963ba4162f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N791dd19ceae74c3283371e206809f2da biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0088925d03574545a7f831292f8fb1eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8ef9c9e972a24a8bacd3170d68d0b96f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb2d9e2e26bf74a689a10eaeb5131966b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009891 biolink:NamedThing Underdeveloped supraorbital ridges Flatness of the supraorbital portion of the frontal bones. tmpxe7fu0cj_hp_relaxed.owl Flat supraorbital ridge|Flattened bony protrusion above eyes|Underdeveloped brows|Hypoplastic supraorbital ridges|Depressed supraorbital margins|Hypoplasia of the supraorbital ridges|Hypoplasia of supraorbital margins|Depressed supraorbital ridge|Flat supraorbital margins|Shallow orbital ridges|Shallow supraorbital ridge UMLS:C4020777|UMLS:C1861869 peter 2009-04-30T06:50:09Z HP:0005337|HP:0004672|HP:0004667 human_phenotype owl:Class N930e9e2d700e4283a7b815ff8bc00125 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nff1050605be749e397a0a8de228693ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2f719d4fbdf8445b9da36e35f8c50e79 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4a7646163ced4bb591302649ccfe7577 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N95dc57191b51486490dd547bc06a3dbd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N891f71054bd5419f81abccf5dc3c06cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc8cfe3b0e9c64e21921635e5c1c7c980 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N84d054c46e124af1a93960748d90794e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N82e18d2d25f54eb3b2e27793d90174cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4f78405808e840189d0407bb4c64cb9f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8a92abbef1234f0cbeba630325896620 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf810a4a351264b919ec3cdce2b285672 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9712534b572141039c48b2906920654a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N984038ed2df84b4a849d472c55072f1b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf85b4c22bda5404da666aef61e6aa805 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc6bb449cc5414c02acb4cdd571c6efb2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndcb3140536ca4df9af4ba852076047d1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0376d1fe3f604c0f9485647b72e5ca9b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1429584532714394a9c7e67745983733 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N09b33ab4ae0e45e4a8c2a5edefb7181d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5d00192edb7740a59cbf9ef560291719 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9e1aefb3f5c7479d9d6368b52a398812 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N325620b6b1694f3d9d0e504d0d8c677b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N80572f20691e49c9b2704405f7647c7a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000841 biolink:NamedThing Hyperactive renin-angiotensin system An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. tmpxe7fu0cj_hp_relaxed.owl Increased plasma renin activity UMLS:C1846345|UMLS:C3150267 If the kidneys sense reduced renal blood flow, as can happen with reduced blood pressure, they secrete renin into the blood, where it reacts with angiotensinogen to produce angiotensin I, which is converted to angiotensin II by angiotensin converting enzyme (ACE). Both angiotensin I and II are vasoconstrictors. Angiotensin II additionally leads to the production of aldosterone by the adrenal cortex, which in turn leads to an increase in blood volume. human_phenotype owl:Class N5eae168d255c4423adc19a205d0eca36 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5f64965876af44ee9a2149e0cceef8b4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N483a0bc62fd54179b7fe28d00a6d8f77 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nce14c84f387942f9a1f3b16ca8b4dfd6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9201ad5b5a7f45cc9376329d273c4c30 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N311aba09bab0424e9cc13a6a20259e72 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N47a2d6748b6b4872b00adf9bc28d4053 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9eb59d98a6ed443890ccea5b83387bc5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9d51dd1e2dc74f10b9b88889dfa732c9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N93b47e796871486f8ffae5998561ff6e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl 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biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N601699a79f5b47c59f971ca92d32f018 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6c4175cb0a654054acab0168dd6cce71 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001190 biolink:NamedThing juvenile tmpxe7fu0cj_hp_relaxed.owl owl:Class N102b72c4ae5940c3a1e6968b2fd28469 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd8c5dad548f14652bff56fd6f15768fe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nef8aa82633804d7893bed4ab2496d4c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne68450c960c44823a91ec575760566a3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2049b08d04fa49e5abd57be19a3a1d5b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010168 biolink:NamedThing collection of eyelashes A collection of hair on face that is part of a eyelash. tmpxe7fu0cj_hp_relaxed.owl cilia|set of eyelashes|eyelashes|eyelashes set FMA:70742 uberon owl:Class N3cae1fbedaf9421f8bc22d6b904a64e2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd5d7839965e34c078c136b8700fddfaf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb9c39223082843658b59ff1d43ee0c21 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6de6583e20164b188e36235ccb33e95f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N68b10e98a96340198fa31a0c275b4e87 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N40a20e1063f541bd83c489be24898e0a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc3004119592f41fc8681f1fd8fc38a8c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na0a65453cec04bedaef4dcb317e16ad1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne53a8a315e814dc98e0b23a6c7c672e1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4d549b9ba7984e0fbef68bdb8a5a71b2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na9ef5714d51046b4a7912c9151757022 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne8f5369579a64f91acfeafed2a7fc7bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc934ce17000b4016a38c8fce8a2ef729 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N22cd01370b9542248e336f8b853a86a4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N03eeed24356641ad9797d00079d9848d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N02bfc6870ed34b9bbd1179084f1d7dd6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5003ec7f6ec84a749a8874b8488e5ac6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncf11078630494ade9695c34b766259cf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N57cd47ab6c60425ea2d51b313c39bd89 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5ab06c6f6c9741e8a5acedf0f2606a63 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf778173e5d3c40b5a1c0fe79c08cd9ff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na4b16c1c9ce843729e3c0c04cdf08534 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N093e7a7e9ed340aea09454eb94106608 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na84d6617e5ea47f9b3b4bf111c2526c2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N72022d461a464d2b8c6724b5c0720229 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7aa9a00526324c47b2c40445319ef795 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N43d47257ac114746ae350a510b2c571c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N506d568ae5d1487ba2555789e0885502 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3ff9b460dce4449a873e6d6e8faf9766 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:26907 biolink:NamedThing tetrahydrofolic acid A group of heterocyclic compounds based on the 5,6,7,8-tetrahydropteroic acid skeleton conjugated with one or more L-glutamic acid units. tmpxe7fu0cj_hp_relaxed.owl tetrahydrofolic acids|tetrahydrofolate|tetrahydrofolates chebi_ontology owl:Class N8f284ec666104e7a82263d2423d76b46 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1922bcd39cfc47e9880693821c29591c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncf20bcf7b6e14a94a3280b458a795c3a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N104b92cfd89f475e91ff172fffae5ecf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N92e2f045838a42e98e3166b14c4d826b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1529bfcdc7ef46929f694fbc7a3704df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf93cc223207b44948dffe1d4068eb33c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0042923 biolink:NamedThing neuropeptide binding Interacting selectively and non-covalently and stoichiometrically with neuropeptides, peptides with direct synaptic effects (peptide neurotransmitters) or indirect modulatory effects on the nervous system (peptide neuromodulators). tmpxe7fu0cj_hp_relaxed.owl molecular_function owl:Class N24466191b7424d09b9dafe035a4fcd6a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1878d43ac5c446b499aa0e05dc6bacaa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N224243b0e8094219bf5f15d1ec41c1f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N70867130015841eab063cd2dd99f26de biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndaca9e7419cf41a4be048665f4e42ca9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0343e11edf774065981bab8c8f627871 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na047ad8985cf4296a1cc624fdefb9177 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6cbe61064dfb456190207ab68a7e1cbe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0030686 biolink:NamedThing Increased adiponectin level An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073128 owl:Class Nf0e22aa89a39497588cccae09923bc59 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N426a5cb92f654d1583c23830e0fbb9ea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6a6f1c1fcc3045298004442a8c6b565a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1ef0a5c4bf6e4e3e8d7e7f45c4ef9595 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndba3f14aafc44970ace83beb25fc3eed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na57a3db3eb414c8f90ab45a11aa8c482 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N471ebf2ac0e348b2a73e9d0946468635 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4b0c25649ece4cfab6f811c126e3fa41 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5920eff5d30c4296924b2846940959cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne5e4e22e95f44c08bf9a6c12daa81ee1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N78e7e1c81d804755b81d24ca85a0fd72 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd588500d139a4365b6ce951b89912b1d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb7c0b794640c43f9a9a5db23d7ec149f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N92ecb704186d46a0b48864b4dfca071a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N461ad788f039453d97fe543093a320ba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N70be73d3913a4530b0edcd35c5f77d94 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0333b6ee6b0d4be4ba2a88a2d105564f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbade8d920a294afaa500671d2716fd1e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc8a0f11aab7648faa2cb686051fa17e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:27314 biolink:NamedThing water-soluble vitamin (role) Any vitamin that dissolves in water and readily absorbed into tissues for immediate use. Unlike the fat-soluble vitamins, they are not stored in the body and need to be replenished regularly in the diet and will rarely accumulate to toxic levels since they are quickly excreted from the body via urine. tmpxe7fu0cj_hp_relaxed.owl water-soluble vitamins|wasserloesliche Vitamine|water-soluble vitamin chebi_ontology owl:Class N0a43b9f54a00470185e752bfc2b408ec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf5b9300f5b4648dd9b38ec945267b5bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7b971c6889674be48c5150a960ceb872 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndb004dbbbbcf4239a054fb1d4d17e160 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0021987 biolink:NamedThing cerebral cortex development The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon. tmpxe7fu0cj_hp_relaxed.owl corticogenesis|neocortex development biological_process owl:Class N4c33946e3f8744aabbb96d088b014400 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6abbbeb42a8741f49c1edb4127a08096 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N84d682f13dca4f6faa2c9ad665712256 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nec59e82aef2943189d7be29b34200d39 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N20a144c2bc824c118ec5dea27b3ac40e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6456d6a46e134d40bb67a8c24017a1a0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7b856f9f3a854869a9b5833d3d04fa3d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndfb72bd620bb41148f50abf3af9bba0d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na66447ad48d1495ca2c075af3d791c30 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8513f4a8af204cacb38bc9128e3ba3df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfd272814217040c99d59652506f133fa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nffd65cfa92ff4d7b8e06ab5938a1bdcc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nac2f7e3dd16b48bcbcba7004baa35651 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0003122 biolink:NamedThing pharyngeal arch artery 5 The vessels formed within the fifth pair of pharyngeal arches in embryogenesis. tmpxe7fu0cj_hp_relaxed.owl aortic arch 5|AA5|fifth aortic arch AAO:0010421|TAO:0005009|ZFA:0005009|XAO:0000352|VHOG:0000145 uberon owl:Class The fifth in a series paired arterial connections between the dorsal and ventral aortae. Aortic arch 5 artery is paired and has a common trunk with aortic arch 6 from the ventral aorta, and drains via a separate branch of the lateral dorsal aorta. Aortic arches 5 and 6 supply the trunk and tail with oxygenated blood.[AAO]|The fifth and sixth arches, which come on-line at approximately 2.5 dpf, have a common trunk from the ventral aorta and drain to the midline dorsal aorta via an independent route. The fifth and sixth aortic arches supply the trunk and tail with oxigenated blood. Isogai et al. 2001.[TAO]|The fifth arch disappears on both sides[WP][Wikipedia:Aortic_arches#Arch_5]. 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biolink:NamedThing CNS hypermyelination Increased amount of myelin in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022742 peter 2014-03-30T07:15:56Z human_phenotype owl:Class N233aa5d955864be1a566c72d7e807941 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne640f66777834fa491e113fefcd0bfc0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N30783983c82a469f87b8a217170c4ccb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N95cc1349d7f6431e9723793373078112 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008256 biolink:NamedThing left clavicle A clavicle that is in the left side of a entire appendicular skeleton. tmpxe7fu0cj_hp_relaxed.owl FMA:13323 uberon owl:Class https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern Ncf9ccc7e44c44acda3f1aca3513c30db biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nca0dd4f7a3434c019ccf5bd3d31e600f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne6037d0c9e214d249bf6011073d4e869 biolink:NamedThing 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the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. tmpxe7fu0cj_hp_relaxed.owl Cytokine signalling defect|Cytokine signaling defect|Impaired cytokine signalling 2017-09-03 16:00:18+00:00 peter owl:Class N0f990b75a90143c89cde403aa36465db biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb99faf3bf91945a7846cc4d72dd64e0c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N60336f3f9ae84ab280ed65a3436a1e98 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410213 biolink:NamedThing Hypoxemia in cord blood An abnormally low level of blood oxygen in the cord blood. tmpxe7fu0cj_hp_relaxed.owl Low cord blood oxygen level 2018-09-12 00:44:25+00:00 owl:Class Nb60fd0c483d84b49828f1d51e3ead7a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfea8afe1c4564ec896905e729207edbc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5d9334a273f44d9798c56b743663fdec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1e3eaf09e4964cedae12c00b30042d9f biolink:NamedThing 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biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbc49f0fd5b2348d9a2c8267086be33ef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne0d3e79d38c34914ad9c2064601f2926 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2ad557503c134232973e33340f0aeda0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ned5d36d087d74831a591beaafab7e6ca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N394e9a3d3ecf405cb1322bed85b87230 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf3017fc067b846a5baf5f7d733895489 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N572137ea40a546cc927fb910fac4a2f2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N97004addd30148299597c17eaa87278f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndb99414fe9c74b59b789f02f968d4c26 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N79abc6982f0b4431a3a0350696424a19 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6cc9b920800845bc82828b1ebed7b7e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4981275c699d447ca0f07720721ed290 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb9ba223e6a5544e093331a714e7c0dda biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nddcb0bcc6f30418dbebe1ec236882a2f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N635935e876bd4a5891cb5bafb89855cc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7eed2cc0019248b999a033a8f71c0eec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb199fa1d26054a2f93e031c552e84038 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne5bb5b28e7e146529213fbc5c176dbaf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6248c9744ac14f699d098ce5360e3866 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0db6005cc1d345e191d432fa7fc5d0a7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1e8d268567e04a6da0456e063e4aafa5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N47e7fac225134d95b4fbabfffc8d7f4c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nedb52309001f4a3193ebf4b99550e31a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2e610f15e3a64488977664cfaa60dd29 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N18bcb4f3e96c4938a56b1794b892f575 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N28b5a7002fd24d7ca7d04f090bdb28d5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0014793 biolink:NamedThing musculature of pectoral complex Any collection of muscles that is part of a pectoral complex. The pectoral complex comprises the pectoral girdle and the associated limb or fin. tmpxe7fu0cj_hp_relaxed.owl upper limb musculature|set of muscles of upper limb|musculature of upper limb|musculi membri superioris|muscles of upper limb EMAPA:37861|FMA:71296 currently defined by location rather than attachment uberon owl:Class Nf5db78dc9861453d9929f3dd8d43a6fb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500236 biolink:NamedThing Increased CSF histidine concentration Abnormally increased levels of histidine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl High histidine levels in cerebrospinal fluid 2019-02-25 21:08:11+00:00 owl:Class Nacb85376f200402782085de282397429 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na3598d662fb147ae8e6ab93f9c5989fe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne8d27205e88343719ca735d39029cc59 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb6283fc50bf7434ea943a968681bb560 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6512472756a842ca8e6febd29ff6baef biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne11978050e974c26b795d355ad96358f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb8fe453e18f247c981ef54d7aa1c9444 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N72877cb6d4514f47b66bfc31f62a88d3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7fb26cdbfd974f31ac5718ccb6f7b751 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne83c325dbce649e984eb2c3ec27321b4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3ba235c87a4748b1b5e7a64121612265 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N70217b5277af4b0e9e52d3fd547d9b69 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8b6bff6abd634c8a82d029afc605e390 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfd16315cc71d46cea37d2dd786cc841b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na8efd767777c44e29c9e0c03561a65f2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na2515beb8fda4b699c2ea9e905c69058 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N24413a888790467ea74ef32fd2442379 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7b28fd210e914708b61bf008827fb4b1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N732cced94ebd45e287d8dafe74219fff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0298b722db714517927b9242e5a80136 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na5181a1325cd474bb1535e028879e7d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne36de8b65f5b4e74aeafd8e46d2ccaf3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb9f3cce9c4204003844dde7ca9ac641e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd372a12b147545cca63e755e7eb5f3f7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6ca532285d8d43cf974c4fa1661346ca biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd4d9907b49674b4e97b2d274aa57e921 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N16a89eb2ba1840d292615e0f1633e71a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4796adf48f514cb39e9912596d1f50ad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4fc81e64f38c4d08932e81423e61be3e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0009470 biolink:NamedThing Contracture of the metacarpophalangeal joint of the 3rd finger Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024343 doelkens 2009-01-15T09:50:20Z human_phenotype owl:Class N2956d14471794746abcdd8a02b448cbf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N14056c2e445c44c988d9bae8a72b8bae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N005d27f5136e4b8d9bbaac48d86c6ad6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6192084574084ba6bfe2de783ae3294e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8499ca2bb2df4216b9721f1f81780c96 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010152 biolink:NamedThing skin mucus A mucous secretion that is produced by glands in the epidermis. tmpxe7fu0cj_hp_relaxed.owl skin mucous|epidermal mucus uberon owl:Class Nbdc55d52db0944f187f7922367bd41f4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nce11455a25b94a7488af37cbdcdeeb42 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4a2bc8857f984bcf836164c89fc2a49c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N12bc2dd46ce54a2499c32926e65d810a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410075 biolink:NamedThing Increased level of xylitol in CSF An increase in the level of xylitol in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Increased level of xylitol in cerebrospinal fluid 2018-01-30 00:50:08+00:00 ORCID:0000-0001-5208-3432 owl:Class Ndf4eb1eee30e49359d2a8a7c4889a2c6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:136849 biolink:NamedThing 3-oxo-Delta(4)-steroid group An organic group derived from any 3-oxo-Delta(4)-steroid. tmpxe7fu0cj_hp_relaxed.owl a 3-oxo-Delta4-steroid group 0 C6H6O 94.111 94.04186 C1=C(C*)*C(CC1=O)* chebi_ontology owl:Class Nc427afc797c6494cab1135e3e5be17b3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N02b68d3a6a66443a91bae82599f3aad3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N32eb910c777c4d9783c87bc61f509a9a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf9369e981e334a71ab28c7528c72b0d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbd6aca399a1e48fda5745312eaf63527 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2ef38afd58f142bc977e7b187be140ea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N28705d6106594884ad15f1ce6ef289cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0410015 biolink:NamedThing Abnormality of ganglion of peripheral nervous system An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073194 owl:Class N472c1635594a4e52a9972237f56899ae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N88f80beca92c43a1a24b2b800ecfdd2b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1a68c31b4c8949b69474bd28fa9f9620 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N42dff6a1af914c979ef0628f6603c182 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N99301fe3744f4b09a56745eef572a527 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nabe943f7876b4b8fbf84757b87224a52 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne504167f47da484e9fd19533c79d2455 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N988eb729a6784dc5bea666ee2b19e671 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4fcedf9eebef4b1e85af97c17b67cd4d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfe927fec50e14360afabdf17c8ba727e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd6332744c0334bf7b190f600f8071ed0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8f777330c2c94c63b61aae02615fcea2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8384da77a3294694b2c7a8d7f141902d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd92dac70a7a546dc86e2104f3047f1d5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6932193d087140c18d82fa2ca19c4aad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N54ed69e7017545718f80e267d4dd9516 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N205fe767b67b497ebc2c7363719c2928 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7153de741ab14b9db16356c097fa895a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7452930ba6b141aabd2c07a660c95e5a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N76fd7328ff694e99a000e1fdda1ff48a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N77b16b42eed84aadb75f996504dc6267 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012601 biolink:NamedThing Hypochloriduria An decreased concentration of chloride in the urine. tmpxe7fu0cj_hp_relaxed.owl Decreased urinary chloride|Low urine chloride levels UMLS:C4021078 peter 2014-01-16T06:17:06Z human_phenotype owl:Class N7e26af390172409ca9e2eb9c4a7b6dba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naa8246557a0049cc9ff88e8f1f2b94c0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N028212ec9a7d43dcaf8cfe1fe26c0973 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf0c60aec7cd8418889947b337076861d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N89dc1752372443d88edb83a6a8f121ee biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nacb0ebc00b854e14b72a1ccd322dcda6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N98907d9311de424db4e57fb73b1e9484 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N88578d98e881461aa50d8a0fb979eb14 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8b3eeb1253be4f448858257d6f5a5324 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N88424bc5ab9a42f8b5321461c3ba8957 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb845002bc65a4aea87ee97e59bf7c283 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf20142a5a6b1444f94ec7ca3a5fd5514 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000807 biolink:NamedThing Glandular hypospadias tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:429631000124104|UMLS:C0452168|SNOMEDCT_US:204891000 human_phenotype owl:Class N627fbca7f11644fb86cf668cd9f63451 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nae2d34c143d44b0fb4d2b16562808e74 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncc7eaed4dcce482bbfd6ebb377660f24 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N70cae2ad8fcf42159ee122db1945852a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na0d3673c94354911a55fcc350793b0f9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N05b41783578c44c990b633e419b7a497 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N288a86aaee9c4e9bb79e62b9bd2d35d6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nce4bb0c56c024eaf95beccb1be49a56c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7a5e4c8182fe40fcb734fd1e64fe53fd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3a50fd39326f44478155775b93731fdd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N58b8bbde01474aab803af9d37af61c80 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf96243570f8941bc9791fae25b053d6a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N78846ed5bee146f48935c033dcd7e5f9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N17a150783c6240659e45680b24675896 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0fb7c63c219848ba8750622ab376d82b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5680cd3ddcc343cab1040aaa3d0677d3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N33f2ae0c775d4f5596ddfc27052989de biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2e745d50f9174a7b961b688c20519743 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb550144a1f8c4779880ec1784ad5c995 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb7f427f832b041839a015b2843ec84f6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4dd3f5023d714849850d2487b5973d7a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne17b1d8006fa46ac873d60997cfd15cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0004823 biolink:NamedThing Anisopoikilocytosis A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2675920 human_phenotype owl:Class N7c48b0be75cd4139bcf579847b518feb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N255abdea51a943f48ca9e0e292d9be0e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nac1e7449c70949088a0daf87209a127a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0010444 biolink:NamedThing Pulmonary insufficiency The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. tmpxe7fu0cj_hp_relaxed.owl Pulmonary incompetence|Pulmonary valve regurgitation|Pulmonic regurgitation|Puolmonary valve insufficiency UMLS:C0034088|MSH:D011665|SNOMEDCT_US:91434003 The pulmonary valve directs blood from the right ventricle (RV) towards the pulmonary arteries during systole. peter 2009-09-14T09:54:12Z owl:Class Na8ce70cf7de04cd5805ec427c982e61f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060764 biolink:NamedThing cell-cell signaling involved in mammary gland development Any process that mediates the transfer of information from one cell to another and contributes to the progression of the mammary gland, from its initial state to the mature structure. tmpxe7fu0cj_hp_relaxed.owl cell-cell signalling involved in mammary gland development dph 2009-07-06T09:24:53Z biological_process owl:Class N326c5ebe556b45a0a74108f3dbb9c888 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N36548d8721ce4d0886a79de32062670b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N130234dd9adb46009ec388b1a3084bfb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc8bb25d8e2ee4156910a4b07cef0f5ae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc433932ce9444cd68d6371b0eba3c5e1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0001554 biolink:NamedThing skin of hip A zone of skin that is part of a hip region. tmpxe7fu0cj_hp_relaxed.owl hip zone of skin|hip region zone of skin|regio coxae zone of skin|zone of skin of hip|hip skin|zone of skin of regio coxae|zone of skin of hip region FMA:45282|MA:0000658|EMAPA:18148 uberon owl:Class in MA this isa hindlimb skin Nbb40cadb40af4b3b8da2dbc8250ea3a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N649096d48c834e1d92c06494c7b65120 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nea1555f83b124268923800eca851a10d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N13210cbf23694b40bd1bc8f0875df498 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N165e0e97e8f64a52b587fa211502ade2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd720c4f2d7f747c19958aad3036a936b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb0812dfc3fde4e20aca73e734bb143d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na08dcf3ecf8c4f95896c7e7b2032b5df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd40cb8bf61bf403b90aeaac13a769dab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N40bc7191b22448d185ba5de61408c0c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5187097752ed41599a88c73bfa6f25b7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0060082 biolink:NamedThing eye blink reflex tmpxe7fu0cj_hp_relaxed.owl owl:Class N983ca8bf8fbd4e7491277653451ed955 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb9a3a0b679d0462a841bfb0aee7e54c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:50341 biolink:NamedThing 1-hydroxyethyl group tmpxe7fu0cj_hp_relaxed.owl threonine side-chain|1-hydroxyethyl 0 C2H5O 45.06050 45.03404 OC(C)* chebi_ontology owl:Class N6908d49305e94abea772f1731be8d9c4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CL:0002062 biolink:NamedThing type I pneumocyte A type I pneumocyte is a flattened, branched pneumocyte that covers more than 98% of the alveolar surface. This large cell has thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange. tmpxe7fu0cj_hp_relaxed.owl type I alveolar epithelial cells|type I alveolar cells|type 1 pneumocyte|membranous pneumocytes|pulmonary alveolar type I cell|lung type 1 cells|squamous alveolar cell|AT1|type 1 alveolar epithelial cells|squamous alveolar lining cell|ATI|small alveolar cells FMA:62500|BTO:0000780 tmeehan 2010-06-23T04:37:54Z cell owl:Class N57c72544827e4c4782b96f5d70c91c11 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne6e0a825b91b4a2b9392365281dd64da biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N21b4a3e87b214beebff93a37984ac31b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1f471180a6424073b60bcdfdbe4f6315 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N18f26c17358641b79496f82eda158eb0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:50748 biolink:NamedThing antipsoriatic A drug used to treat psoriasis. tmpxe7fu0cj_hp_relaxed.owl antipsoriatic drug|antipsoriatic agent chebi_ontology owl:Class CL:1001603 biolink:NamedThing lung macrophage Circulating macrophages and tissue macrophages (alveolar macrophages) of lung. tmpxe7fu0cj_hp_relaxed.owl lung macrophages CALOHA:TS-0576 owl:Class N43ff64b8c5794338aa1867323a0fb477 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1b72d3184b794ca7b20e2a9aad88ae33 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na6b45a2408c543a8b047fcadb22c96bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne1b990393b554a7f9f5e7b3ee5ae6c19 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbaa99d49007349beb769a1019cdc61f7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6c5a7656a1094ff398a368c3e89d8e45 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5dfce305ea1d440ab7a9af57ed61b318 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8cb088a5d0fc48e8a7bbbef6294870fb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N21bc0336d551401997a43205bd4d11a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0002384 biolink:NamedThing hepatic immune response tmpxe7fu0cj_hp_relaxed.owl owl:Class Na434283e09e947eeb7b3ceb0fa428e8b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2550efa907b94b78b80e044ba8768bf4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N13db3662dcf947f294ee30a20126504e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8d60353429314cc6b70610c92fc55656 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N35ce5d4786d34ab08050a49bad4f7f2f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N203e422c25ec409ea4ad3ff22fcde93b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N32553f3ee98b44159ded39fe8629eb2b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc31a95201c924859b6932c63a9e0e194 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfd8ee699b86b49a2820f3a4360a55fce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6427a3a24e7d49d381ac391162031be2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9793f1e750cc4454a18007583430b03b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd1b61c09520c4879b3ce42e032f0a8e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf8fad14e393646a39c90f6705fc375a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6b86e3fdd6414b9da34bf548fada0b7c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N899f928e098e455c8be8f26afcd25c2f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd6b1a355a7094543a59cd1eaf3b66fea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N59cd8e48cd5b4395a220aa6022258b13 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb3c57a88f5e148bbb5aaf1e183937362 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1e32d46f04944b6f8062f66a60474aba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N059a64a6a8ac476a83664aff01dea8aa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010204 biolink:NamedThing tail vasculature A vasculature that is part of a post-anal tail. tmpxe7fu0cj_hp_relaxed.owl post-vent vasculature|tail vasculature ZFA:0005037|TAO:0005037|XAO:0004151 uberon owl:Class isa blood vessel in XAO N473ad4c29ab14ff19785a4b968bc2b40 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf08fb9dc2a7c4cab98434d38a19e1ece biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neb64b8490f8741ae87f7dc4271891566 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf3b2b01af42f4440aff85c811a9d1171 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb4826911ed89406e88c7b3f1fa3ba40f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na3106d40974947c19123ae0efa3d9838 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nac2f0d6b7356485cbb35b7453f4c771c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100493 biolink:NamedThing Hypoammonemia A decreased concentration of ammonia in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022041 doelkens 2010-12-17T03:54:51Z human_phenotype owl:Class N23b73e56daa3477499815f656f00664e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N60dffafd877443799819e9a9d1997557 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nef83a22358ff411081afd6b66739f1f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf1f21f312c2f4845bc8393a349fcb8c5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5fab4216e5d546e2a16f70cd5ad11443 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne6bd2fd07fa44d86a772090a5f1737a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne8103295f2654121a854f718692c95dd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbabab98c35a74478b5a3e00eec4c8b75 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7c05b20bce8f44cd8f9310e2fcc465c2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N05151dcfd94a4ea6841a19c4e55f9396 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf5f6a6d76dfa4eeaa90ec074183a67c8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4ee9fef62a7e4db0bda50bb915de5741 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5f68d4d40fce475586178efd07bacbfb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100878 biolink:NamedThing Enlarged uterus tmpxe7fu0cj_hp_relaxed.owl Enlarged uterus UMLS:C0151994|SNOMEDCT_US:198319004 doelkens 2011-12-01T02:32:26Z human_phenotype owl:Class Nba8af5445c104a1bbbceaf0c0e1decee biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0001212 biolink:NamedThing Prominent fingertip pads A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. tmpxe7fu0cj_hp_relaxed.owl Prominent finger pads|Persistent fetal fingertip pads|Persistence of fingerpads|Persistent foetal fingertip pads|Prominent fingertip pads UMLS:C1835807 HP:0001235 human_phenotype owl:Class N9582259e767b49e5b4397e90d76515cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N572ea2103df443ba8c0d5f5ddab74e2d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbee783512f234e7fbc36aafb4a79c4d3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfaacf522fcba443081c1d441b269bed5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8f6997efbecf4fa483c3b316805e02a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4fde0bce6a904b9387ad477a891ca89e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2f87f3ace31e4764860ea39880bdfd40 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1de52fe5d676426b8530347c16f40e98 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfef1c450f909495c8ccc331d927fe2d3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N20dd02b81b7d4c89a781a1bbde1df5f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N681a56d54c70415181866232d0b83928 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf5d26693f61a44bab729dff9ceeffd74 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbedc6729bc4f48eba0d716f186d1568f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9ef695f38b414c008c12936313cc8a66 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6252f191daa847aa83e8b989b3dc7129 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc32ad6e2228642669113e2a0ca2992f3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc401a893990747f39a6be51b3231787d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N95069fdae5d346f69b198a710bf6207a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0011057 biolink:NamedThing Agenesis of second permanent molar Agenesis of either mandibular second permanent molar or maxillary second permanent molar. tmpxe7fu0cj_hp_relaxed.owl Missing second permanent molar|Absence of second permanent molar|Missing twelve year molar|Agenesis of twelve year molar|Absence of twelve year molar|Failure of development of second permanent molar|Failure of development of twelve year molar UMLS:C4023561|UMLS:C4280257 peter 2011-03-10T11:47:58Z human_phenotype owl:Class N2c4da7fa5f72461f96ff6db5cd0d7153 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0100227 biolink:NamedThing Enlarged epiphysis of the proximal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Enlarged end part of the innermost bone of the pinky toe|Enlarged end part of the innermost bone of the little toe|Enlarged end part of the innermost bone of the pinkie toe UMLS:C4022194 doelkens 2010-06-24T05:04:53Z human_phenotype owl:Class Ne07755e9586e403f916a218521ec7440 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nddba47937c6640d4949238571cd707c4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N81f0096276504c3691713d035cea047c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0efc05a8c42e4545b1489e65a16d6c5f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N011f5feda45743079b9dd5ecd33e1287 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9e7095e91cda44f699ab6e5d6fe7172d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6b6802131a7e485aa1142c2bd8635efe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N64d2a01359314d878b28bff5bd2df1d5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf06f45a4720c46249031bda582656cff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na4cbdd99e1cf401db0aa3950b81ac354 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7865e143430c4f519e25f11a880a71b6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2f462e1bfb804007b5fbaeb39e698643 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N87a4207a72b749b2bb21213c36aa9518 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N980fa6a11fb846e0a09eb2ebb0f5b677 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0bdac20b225b40d2bf86261a4aa6ce89 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc0874387690d4b9d8afb41e7adec39eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na419a67c47c548c48c50f6421ba8210e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2be1bb75e8374ef4b9611a2e9a391e65 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8818fa70678b4f9ebd0ec5506cf80b3b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb55ece6381924e3c89c7c9ae9717ab50 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3e6de7ee3d6c4f208041a6f7a5de2534 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne71d784dbb44484d9ce6984bb5039424 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8f4d1a2b91614f9a8ce2d1fbc91ac29d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N96ce4745e2204bb0ac09a63c0df004e7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb61b40cd20924a1d82052d0b75b8b04d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4c218127a31447f7a24d025273f065e2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6f313694c4f344eb90c8851205780b09 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N71b02e9d8494465d9d31717239307d78 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4420cebfa9054169ad2a8b6b5f6b25e9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000485 biolink:NamedThing Megalocornea An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. tmpxe7fu0cj_hp_relaxed.owl Macrocornea|Increased corneal diameter|Anterior megalophthalmos|Enlarged cornea MSH:C562829|SNOMEDCT_US:204118005|UMLS:C1167712|SNOMEDCT_US:268158009|UMLS:C0344530 HP:0007660 human_phenotype owl:Class N69afe929fb7848669a771b2fa155d979 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0f7d3bbf5f31418bbc15a72c1642076c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N94358ed87c554ce2b78a51ac0c37eae4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012876 biolink:NamedThing Premature ejaculation The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration. tmpxe7fu0cj_hp_relaxed.owl Premature ejaculation MSH:D061686|UMLS:C0033038|SNOMEDCT_US:44001008 hecht 2014-06-09T11:24:37Z human_phenotype owl:Class N0ad365ea491c436b948c703b9d9a01a1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5f850daf0a94453c960998f647fb599b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc172b376fcf343639a73ea19d5bd106e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N597004397515422386d6e4bafcd70ac9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N35b73156a9fd49abbac1b4e2ce2c6c0f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6e4535b424794790bc42b6886af9b586 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N56c83f20a7d84b7fb3794de2802d097b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd9412f4aaf1d4ea29d3daa213209e565 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N069bd25f36a54442be0164e6440b4746 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1838c3acbf154b01927eb682b562ef7b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N623c599440a64e9bbf9aa32a8cfdf4df biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1cb8d4e6551e4e2fa6e8d7b7a4604da6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N300f77f430a94576ad3bea3a35af2db1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb872c8560f9e44529a883b488e6cada9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nad8146cf73db47318d572214cfc968a0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N370d1174e0294ebb87591859fa8a1b9a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd2237508a8d848d1900ecd8bd65f5390 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf54eb9aa1b974af09d0e2df0460ccdb5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndee4ad5e37db4fb0800240393b17a42d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8eb422133af34e43acc403055db84b7b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N12147b3843054925bf842d461795284d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N637e04427c164323a0fce500db66bd18 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nea0ad65eccd341ff8e929e68f5a05317 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc39587eb839843208bae65ed465e36bd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Necc515e0793f4f859fed4cb842387d27 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:36587 biolink:NamedThing organic oxo compound Organic compounds containing an oxygen atom, =O, doubly bonded to carbon or another element. tmpxe7fu0cj_hp_relaxed.owl organic oxo compounds|oxo compounds chebi_ontology owl:Class N0bdfd52f3a6c49a78a3431d5a00dc708 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne921451f16a6440a94498683def86ea6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndadbf224319b4a4ba455857231b67dbd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5b8c45ead9da4d7c96ff647696792828 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na32147e3d00e4b95ad7a0bf041ecd859 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb63c91b07087494ca21a976c294ad6c9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1413d53ad3b848d3a97f89cd5a2029f6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nafd74a00d5d740d7aef4fa796be0d59d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N86c9e30a540b4342a90730704eb5f242 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb3d2c30c2b0745dcb6e2e177aaf25133 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne24e968f02f24d89841e447d6e954214 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N41db550f0d764f9baaa4f0ec35b71697 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N46c75d62da23482baabef8c7281a7400 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4384367527e541d79836c2a8b6dace4d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N641a5145b1d74e28afcf837ff79ee8b2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1814f5ecd0a24a70a2ab2088d17c0ff2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5b9832d40c5a4165b19b265b885f23ed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N58d3b9c8a1fd4363972d655d23613790 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf32badd49e374a30a3c00ef9578c2431 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N730a3a6fca034bfa9764852400cff2e0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na7c46d41cadc4b1b943792133470902a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf7cb07e502ee4ee58dfeaee46cdabe8f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N64b112b4a2fa4a8c90e80c17ce5b6c53 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbcf46c183cb643ba9bb711afd4bace3f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6c4bd65c131e4525a40946e29cf976b6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfe5558ff63dd4daaab514317b39beea6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na7aa07e79e0a454c9e0a72e1d2f2ee58 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2577d9654b814fdd819bd7a3a609fc1f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4513cb2438eb4bd69a2b7511c7921fad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nee7327f2376c4c8e8bb2b2a6c2849537 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N935f56a022a44c1480f2cc245ee97b8f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N28c839001720403e97b24e602b798eab biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4a7c160a25ae4228a55adc6e4a206353 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8af03dd7cc2947b38cf0f5d287acd682 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1822108373ea4d2582528e0188a03a59 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7f2f66f1a04c47a7b9c06d916ee793a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4c6238b89bb645e1af118efd22aff880 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc96c17514c8d48a8ad0117407832422f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N192cab6fbbc948b3a8ed29342d679b3c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0385bf03766041edab7f3605c7a488dc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N35b8d333851b4e749989c1efd879250b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0006279 biolink:NamedThing Beta-cell dysfunction tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969875 human_phenotype owl:Class Nf7b8825004c344d3b6756b7eae178c2e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N16166dd843da4a1fb259f8bdc42f50c4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N709c3d860b564cd884c61a01642df218 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N81f9658583f2463b80367eb71165d9a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N408e2f51e99140d083a3d7b5738a57bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000063 biolink:NamedThing Fused labia minora Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction. tmpxe7fu0cj_hp_relaxed.owl Fused inner lips UMLS:C1837532 human_phenotype owl:Class N80ba22c93d7d4c9ba199026c00181c87 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf9a239d20832435a941ea8e03c750279 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neea3ef489e5c45f8a8cf44a8b6147aa5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2c27d75558bf42f2b9ed8ecff71bed9e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6e72379ce11c4c17ae17948c1c1e4533 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N69cba03fd2c54e7fac801a4ad2490bf4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3304bf920da944fab543af707608bdcb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd96a4089d5c647a9849a2e597b32f306 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne9b675f663354b9b9dbac286fd9cc2f3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N87e97df3d226469b88f28e42fb30f8dc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N68e43f465edc4775ae185ada6499d300 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nef0670f3bb2443249379636d1be0a6cd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5c05a75313c14fb3afde965d757e1585 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000958 biolink:NamedThing Dry skin Skin characterized by the lack of natural or normal moisture. tmpxe7fu0cj_hp_relaxed.owl Xerosis|Dry skin SNOMEDCT_US:16386004|MEDDRA:10048222|UMLS:C0259817|UMLS:C0151908 human_phenotype owl:Class Ndfcd3199cdf3473f8ae0d36016b069f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na2ee57bfdf5c466397c04bcb2e5cb01f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb4d44fa0b3fb46f596098f3348f42ddc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N82bb3ccc23ab48c59f510ac7330504bf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0012202 biolink:NamedThing Increased serum bile acid concentration An increase in the concentration of bile acid in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023004 peter 2013-03-12T11:56:40Z human_phenotype owl:Class N9b91d62add0740c98d4c25763821da5e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7e2cf1eebdbe4c3fa31a309512fab69b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N302b592dafd74a4ea9c8b542e17c2abf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd123057fb5bd4b49b7cb62cc16297d27 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1cd9015865e84a839dfd04f34f7fd7fb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbe360c3e4b194ea88822e5d580cedc2e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5c8d202fca7b423d9c376c26c5b6dde3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf9c9ce8f568248009d908b3c337e54d4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N36c88693b05e4d1795360e3fbd8c222f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nde7099ff244744dc9aa50b7f34a58883 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N54cbf021daef4bc79e2da4d7883e720d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3c6c2ea8d4e241b5be7bdf7309d723e3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000389 biolink:NamedThing Chronic otitis media Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. tmpxe7fu0cj_hp_relaxed.owl Chronic ear infection|Chronic middle ear infection|Chronic infections of the middle ear|Otitis media, chronic UMLS:C0271441|SNOMEDCT_US:21186006|UMLS:C0743359 HP:0008524 human_phenotype owl:Class N556b2d3bcfdc49ebbcd31066b4ee8ff2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0002938 biolink:NamedThing Lumbar hyperlordosis An abnormal accentuation of the inward curvature of the spine in the lumbar region. tmpxe7fu0cj_hp_relaxed.owl Exaggerated lumbar lordosis|Prominent lumbar lordosis|Increased lumbar lordosis|Excessive inward curvature of lower spine|Lumbar lordosis UMLS:C1184923 HP:0004560|HP:0002941|HP:0004596|HP:0004574 human_phenotype owl:Class Ne4d1d34330864072a63008a2216069e2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbb81f05f8c34435d8e5c31f3d0ed0eb8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N90a2500ca8114eeca05d30eeb72de19e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4cb609dfdb4b403da27e3f1ce3214d4e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf32e28e70d15471391ef2b2a856c8aa3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8b44288a917b4549b1235e5b00b54f17 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N030d3730d30d419bbe2a9bc04c0049e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0e25e428828b46ae9ffd7fc5460a4a1f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbeaf40fad4504bd1a4003de22f57c7f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N935d601ffc7a46f6bf164ad2b8fffc85 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N433fcd04030740ab869035fa8a4f10a1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nedd1bcfd1ea94d80a2043d5307460080 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005320 biolink:NamedThing Lack of facial subcutaneous fat tmpxe7fu0cj_hp_relaxed.owl Lack of facial fat below the skin UMLS:C3277426 human_phenotype owl:Class N9ffb371175194da99439cbda7cafc70e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndc888f69cfdd4d2e8ed5a0a1c089c2e4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8ab95c5e8aec4fa1984fbd0d3379482f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb98e2451d4f249508b2e87c8074ca52a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4c0694438c3e4ca5a6108a26b9ae7947 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0035111 biolink:NamedThing medial plantar nerve A plantar nerve that supplies the medial side of the plantar part of the foot, including pedal digit 1. tmpxe7fu0cj_hp_relaxed.owl internal plantar nerve|nervus plantaris medialis FMA:44716 uberon owl:Class Nc9ee6906233f43bf868c54522b52430a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd7a8618cb6c14bac807df7b12333766c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9d14999d95074d4babd1ca426d2c25c0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5ed609802df54da68f759cb2b59d5f06 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N75bcefd9e07b438ab01f50295acffb3f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb54004a02a3b4e208193043a3edaab15 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf0905267a63a4189aa1292b1f638581c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfa6992ab32494ff1ad0f848d85d5503a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne662188697d948e7b79f8e1d2a84e144 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0917a69875214bd18d1d8629bc099a98 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N40246d8db6644b4886c9fce44ac5f20f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1f3a5804f13c4dfc80c65d9a59a761eb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9b7b45b3054b42459de787b9edd8c3e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb09d5401787d49758509b620c787493a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8c8fb2fae0f447da883c82ed49919902 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0010223 biolink:NamedThing left pupil A pupil that is part of a left eye. tmpxe7fu0cj_hp_relaxed.owl pupil of left eye FMA:58254 uberon owl:Class N504256c5e3c94990a40b2d5d47679fcf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N733cbe5764d8453cb54c559988cf1f54 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N82b00f4302fd4de5b7917ae9faef6cbd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4caa759866904044a408b9740d16af88 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2f0a1ce8bcc841f3b81e5d4dee0efba6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0000387 biolink:NamedThing Absent earlobe Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. tmpxe7fu0cj_hp_relaxed.owl Lobule aplasia|Absent ear lobes|Earlobe, absent|Absent earlobe|Lobeless ears UMLS:C1849364 owl:Class Nc7832fa9e4d442e69a8e710dea4a338f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N00fec3d4599b48b98382a26ccf47197e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne751f6e6cd0f4e52abbedf8aeb26e696 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N30fb6150d6df4ef4980e995f6524234d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc4795de0e69c43deb8a511664903232e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8ac1b740bc0b4c99a1db1e447d31d32e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N22ad221624ae4050aa26319005c2a739 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N86b35d5137d74f6fa5741674e37aa766 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne9193978f0bc48d2aa0055acd9824381 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne90c8f3dc1f34b009c824781f4d3fc7c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc7aeb6aa852b4b28b585544b20a04c44 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4aa5096a37da45da89ce33199406fb46 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4011e63fea0c4586b09257f63cc09729 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7d5c23a969004194872612c0ef618c96 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndc882a9662fd46599e3601bc4189d7a7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N917b48280c2d48c0b281b1a405601cba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na3a56cf1978a4f278134c4bbc72e6dbd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1bfd12cb10624b71ad2024b4eb8eec93 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N17274e29559a48d186e5a13d3e00d6fe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0011955 biolink:NamedThing left hepatic vein A hepatic vein that is part of a left lobe of liver. tmpxe7fu0cj_hp_relaxed.owl EMAPA:37164|MA:0003032|FMA:14339 uberon owl:Class Nf1b517078e0947f2a1ea8f6849121c07 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf5a2dc7286c34a2b81dbd2af85961923 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1f2af6bfb74042639177e41da62d6fc8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncc5b40c0f81e4921866efbcf184f2e7a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2dc8aa0358784bc5ac05eccefc84497a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na5a790d60342448e8bab7e70ecdc6683 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne3faf387f6a141108af2c5c09f37db00 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0c76059e5fa24e1890d5c7e00b12a2fb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N88eaf68aed294b8492aadbdd86331731 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N04854e75cd334f079f95025fe59f3502 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0454d3dad2e448f7a0330aa055cc447c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3ab3b42aa2db4bd883f3efb98fc62822 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N88c3a9ef456048089b55ec663a571dd3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1eb3d74fd82b45349ea795a09ddbf028 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc0695e7b874c453fb56c0d14480e7a97 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne8854b2a943a437cbb8a552bf533550d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N865698c42a53484882320f6a9aae1e06 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N491ab529405141e1bb6f23dd01e17b85 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6f3ca458c25d4557a295e5224c458aba biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N05b1bdb3e75546279264a4435a68e09e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N010c57c91c284ab69d2140f6bdafc640 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd6f1b5d69dc8428cb0c608d9ccca392b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc0f48a6fd9eb4560ac4e180cc5dad200 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2ed03ba441b74cd98499437c45c425a2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd1285160484d4bff97828c897d9929c7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5391176098344f1ea82f387e0c11b721 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8a89b296bc9d4ebab4a2d6b764687468 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N953a84c62f4f47eb99e965b22020ac5b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N87be1f8f45c2459bba6d22fffe535040 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0004223 biolink:NamedThing vagina smooth muscle A portion of smooth muscle tissue that is part of a vagina [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl vagina smooth muscle tissue|vagina smooth muscle|vaginal smooth muscle|smooth muscle tissue of vagina|involuntary muscle of vagina|vagina involuntary muscle|non-striated muscle of vagina|smooth muscle of vagina|vagina non-striated muscle BTO:0004999|MA:0001733|EMAPA:30997 uberon owl:Class HP:0100893 biolink:NamedThing Prominent xiphoid process Increased prominence of the xiphoid process of the sternum. tmpxe7fu0cj_hp_relaxed.owl Prominent xiphisternum UMLS:C4020942 doelkens 2011-12-01T05:10:05Z human_phenotype owl:Class N3002a150a38a4dd6a60478f3680ba9e6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf22219af23474e2ea51e5ce34f411ae8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd317bd4a306340abaa07c985c0d216fc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf19a529e2d0e4ec1be4d8dc23b5f1076 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nca354b6063e945ed9735edf210315ce8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N873ecebeb30846f5be0de9ade9864fee biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N67f289276af945aa927073a8dafe9443 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4851ee63d6d04e1eacdc978067be0b2e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nebb3d3694fce48c5b530c05363be8bc3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3f40b152325240a6ada1bf8cf9f5c0d3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7142f0aef0474baa83ec8cd22d509c60 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2da2c4bf86c24f3ab8900295ebe73d27 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N03ffae99c55c421e9d8b12942188dec7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N445c37646d53485d971be9e6c25bebcd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1d19d7375b9840699d42ddb4e0bb404a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncab7e7405a714d46b5c70cecc32c4b38 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0007850 biolink:NamedThing Retinal vascular proliferation tmpxe7fu0cj_hp_relaxed.owl UMLS:C0035320|SNOMEDCT_US:61267008|MSH:D015861 human_phenotype owl:Class Ncec7113f353d47869dffec4e486996f1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N80154e722ada41eb8197ed64e44afeed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nab9cdcd9a86f434e89544b818823d8c6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N132726fae2664936aa5edc88e3459085 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc67bbb140c924fbb8a29bf24bb8d1364 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2ffebbf3ea6946de96e3dc464ff1cc75 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0008367 biolink:NamedThing breast epithelium An epithelium that is part of a breast. tmpxe7fu0cj_hp_relaxed.owl BTO:0001428 uberon owl:Class Nd1660b6b5919420f991ab2f1d86fde34 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6c0ff699c8204c0592c470e93148de83 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncc23a0466a124ce1983be1b7dfc5e829 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc0100b1af05242c2800d04fe8d8a12ff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N228f426b54ea4dd4a8e8fb6964ff7918 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N67c666c8edbd4978894f0256317980ed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4c78834b2456447ea942136a37fc56a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2f0b45d40f8b4558a1bce2922de57a91 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na6ba700dfd3f49fe8689494eb42e5dd1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7aba138abf3e437b938a0484e38b93a6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nae9d87a248aa4e4a8d0a04c4e403d833 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N34aa4abe0d6f434783db9a6caa91f96a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7fa3cbe8b4c64fb0835d2a8a3ee2c8be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1636cefdc86243d5872085a1ec083166 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8dab357292da4a2286d22ff034484970 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9108fb43d85a494a924f38b7db0661be biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0005068 biolink:NamedThing Absent styloid process of ulna tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025254 human_phenotype owl:Class N9a3fe69dbb3e41ac82750d1fb6fefafa biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5c1c55ae0049480183344be00b1a1994 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0500257 biolink:NamedThing Increased urine isobutyrylglycine concentration Elevated concentration of isobutyrylglycine in the urine. tmpxe7fu0cj_hp_relaxed.owl High urinary isobutyrylglycine levels 2019-03-08 21:15:36+00:00 owl:Class Nee91b4efa009404d94fc5de219f51df2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N42ad6ab154bf4dc4aa514ffbda6456ae biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb7e6f4a9a32940ca9f750cf974ee69e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0040032 biolink:NamedThing Hypoplasia of the upper eyelids tmpxe7fu0cj_hp_relaxed.owl Short upper eyelid|Hypotrophic upper eyelid|Underdevelopment of upper eyelid|Decreased size of upper eyelid|Small upper eyelid UMLS:C4022481 HPO:skoehler owl:Class Nd91b6bde499a415386608bde2fb524d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N192aa44eb0604699829f67b60853aae8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne6a3a3bd60b94f449cb410e1f302b5ad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5b7c699cf99f43daa10005406323fb6b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2300e075006c46f7a30e381e1d788d23 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6573676efdb049f8ae686df94903a513 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N239b2a5f72d148b4b4ab752dae9e1b03 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N566d6c8946d242e1a97caa244f31e62c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1a4eb91f815140fa8c1913c34a27195b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N752d0a86fcb843629a134afcbd382bac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb395fb7f930f48eebc2ff14ce41f7c9b biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc80a59f2d3c14e29831d51a2a495e832 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9a6b018e0afd4c83be3383ec5949335f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9d6c21385f5d4594bd30b03163632b85 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0c90bfb758354fff866da934a0e9b29a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nc35e35ed663f42118794d9bd594a6234 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfb99226d3d6d4b42a42c71804a003990 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:17485 biolink:NamedThing homocystine An organic disulfide obtained by oxidative dimerisation of homocysteine. tmpxe7fu0cj_hp_relaxed.owl 4,4'-dithiobis(2-aminobutyric acid)|4,4'-Dithiobis(2-aminobutyric acid)|4,4'-disulfanediylbis(2-aminobutanoic acid)|Homocystine 0 C8H16N2O4S2 InChI=1S/C8H16N2O4S2/c9-5(7(11)12)1-3-15-16-4-2-6(10)8(13)14/h5-6H,1-4,9-10H2,(H,11,12)(H,13,14) ZTVZLYBCZNMWCF-UHFFFAOYSA-N 268.356 268.05515 C(C(CCSSCCC(C(=O)O)N)N)(O)=O Reaxys:1728581|KEGG:C01817|PMID:11592966|CAS:462-10-2|HMDB:HMDB0000575|PMID:11896744 CHEBI:24611|CHEBI:5752|CHEBI:14409 chebi_ontology owl:Class GO:0030262 biolink:NamedThing apoptotic nuclear changes Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis. tmpxe7fu0cj_hp_relaxed.owl apoptotic nuclear change biological_process owl:Class N8c8bee42068a4bd180bd683c532e7ebd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfdd442caea1249afbc4b5df9e692ddfc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2fc07296895c4250af5df535965b8733 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N536a198975d7451b9a7decef19869800 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd998459c1cb84a509723a47a1bb50d97 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GO:0051356 biolink:NamedThing visual perception involved in equilibrioception tmpxe7fu0cj_hp_relaxed.owl owl:Class UBERON:0018146 biolink:NamedThing transverse process of lumbar vertebra A transverse process that is part of a lumbar vertebra. tmpxe7fu0cj_hp_relaxed.owl costa lumbalis|lumbar transverse process FMA:16080|FMA:65469 uberon owl:Class May be homologous with the lumbar ribs of some vertebrates Nf09e5ac10dfb426aa84f6c66be1ceb34 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N72c41697a960424b9ec73e2e815e1115 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ncd7f7c0135414779b28075405ebb6f4e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neee410f0bfec4750b4920b31a9dadbde biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4fdf26aaa1fe4568b24a883fb1b16676 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne0d9cca4ce8a4b04ae0e3aa1e93bbb49 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd0bdb990e8df439f9fe35d2a739a69c3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nbee64fe221ae4879832b520af7413c00 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N60da9b12e04f4a8891e2dcebaf8025f5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N553bbbb4953049f698ac41c0a56e649f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf29f58f77b744ba4b3a3da511826b416 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8a7d47470f13465d9ee02e0f1a16e96a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8b21090baa3f4fda91c0f1dfb8905535 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfdda0db4c8544b068e3f0c8a923adbd4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6f2a8a8ac77c41a8bce4373b8268ee07 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf301b77c473b472aa75d3eea277055b2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ndec62170e6c54144b30cc332fd9a41e8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N681b9dbbb60a4b2baac85e3f422fe889 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N09378378942842309fbb293c00ebaf50 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na26120ecafe7484980fbb3284bb9b1c6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9fe84f1a8cc744b884d8f8cb543147d8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5f489718a44c4eafab3902585cc58cc3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neb1046bd3c0e494eb18c759607d7bc91 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003065 biolink:NamedThing Patellar hypoplasia Underdevelopment of the patella. tmpxe7fu0cj_hp_relaxed.owl Small kneecap|Small patellae|Underdeveloped kneecap|Small patella|Hypoplastic patellae UMLS:C1840068 HP:0005020 human_phenotype owl:Class Nbf57ffc7b5684669843077956368c8d2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N6d03423f307f42fc8bd0ac84102a62d9 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N46b36f9093284329a6aa0dbfd750c1b5 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfef2857cc6da4cba9d6cfd83d2667a05 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0005243 biolink:NamedThing interventricular septum endocardium An endocardium that is part of a interventricular septum [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl endocardium of interventricular septum|interventricular septum endocardial tissue FMA:83584|EHDAA2:0000886|VHOG:0000615|EHDAA2:0000887 TODO - split? uberon owl:Class HP:0410191 biolink:NamedThing Increased glucose-6-phosphate dehydrogenase level in leukocytes An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes. tmpxe7fu0cj_hp_relaxed.owl Increased G6PD level in leukocytes 2018-05-21 18:04:08+00:00 owl:Class N6ed8dac508664338a2407d91384fff3d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7ef66a0eb05143e8a7f2365c742293ac biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N62c51c88f6284176be58d070536c9f7a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nee3212711a234175b18dcd6cc295ea3f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N08f4be24d5c24d7a987885750d85ff07 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd358607b4ee6448598d80913a068fcce biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8df8fab54a624178937ccd93aa2a5e35 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb3140ba11c8541428afc6bd1b4379ad1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naac7a42421a64a88b5019e15aefc2db2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nf3d6a396761945a9ace9f9b7a0ce289c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Naaa3aa5a0ecc49afa4ab99b518950ed8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd699a1fb30174958b4903590d14db989 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N56aa7687fdea4bad831692accbe5f50f biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N32b1baba08154e6892dd382f95b54770 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na3115cb2296346c2803ad402321267c3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Neabbbd0b889642e0ba019cba70d6c942 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0003572 biolink:NamedThing Low plasma citrulline A decreased concentration of citrulline in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839532 human_phenotype owl:Class Ndce8590941f341dea3843365a8b5cbdd biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9c12498d2b044abe930bafe645920705 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N4666d4743d6a4f2f896899f641d249de biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5545a13a50ad40d1a1e54bf3724a3eeb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1a80f81466f7419cbfa1f298324f10bb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nb0e39594b6854486951d827e277df805 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N90aee2761c9d4e0da02a8c70e8be7511 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nfd4c57756d05471eabaed19093014119 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N8d113b2b20614afcacf564717a95d1b3 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd646a6965b5a4202bad98c65a67ad67e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N60fcc8031a554fd98ccc22ab6c0fbdf8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N5f1ff59a31be4a68bdbec27745917041 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N966a543e65b542099885ed37cb48255c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3820a8c3f73a4badae1f136a84ae63cb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7118cb4b8d8d4649aa9a2a924430b6ec biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7a12cfa93a4b44b88acb8ce979e7fcde biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N30f3579cbb8d4354a094f347183965f2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd22f1c97098a4f69ae702435c62d56a8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nd62c45af78f84920ab45485dad965de1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2d6648a5d02a4261bc0566a049860328 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na8c385bcbfa44cd8bcb43f099dae65d7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N83cb3c63b7e6400580473a23ca8529af biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Ne38ed17702204381a25a258792d6362e biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0a63fd2239ee4c3595c621a5edc5b04c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9d37fcbfe43241ef9b7b417a63522ef0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N7ad4ced31f4d422593d5f0a5814ccefc biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N717c1f8d2ce9424fab4b28032ee0091c biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9ca6b8d469c146e8837fe2c6662d4711 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nef35ecb4e5bf4c1caa0fdf1a7e8a43c2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9cdb94c3bc1b4601a41bd7221eb424f8 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0008161 biolink:NamedThing Absent leukocyte alkaline phosphatase Alkaline phosphatase levels measured within leukocytes is below detectable levels. tmpxe7fu0cj_hp_relaxed.owl Absent leukocyte ALP UMLS:C4024724 human_phenotype owl:Class N5f546f48318f4d0f9e4eca9f212544f7 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nced1bcd451f24e55a7548b853bea77ad biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N68ac4510d9a04c39ad3c7cb10b25a81a biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N2dd26b35f6f54874ae065b3751d1eac6 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Na78ed6478fa14dacb93558c8c6806239 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Nff4a831b2fb546e4b1b0c50d52f5e332 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N1d59a1ab5f0847cb8860e04ea4fe3ebe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N3e92686a118d404ea5e52e97ad87bfd0 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N9526f90cdcf241009a76812e93ca7a01 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N0b0dd97e1a664ceaafbe2044fe702996 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl N85a91e9353654fff9cce770b6dbec1d4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl HP:0032597 biolink:NamedThing Renal tubular epithelial cell sloughing At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class CHEBI:173085 biolink:NamedThing ferroptosis inducer Any substance that induces or promotes ferroptosis (a type of programmed cell death dependent on iron and characterized by the accumulation of lipid peroxides) in organisms. tmpxe7fu0cj_hp_relaxed.owl ferroptosis inducers PMID:32015325|PMID:33167414|PMID:34012798|PMID:31899616|Wikipedia:Ferroptosis chebi_ontology owl:Class HP:0410354 biolink:NamedThing Increased sialylated N-glycan level An abnormal increase in the concentration of sialylated N-glycans on glycoproteins. tmpxe7fu0cj_hp_relaxed.owl Increased concentration of sialylated N-glycans on glycoproteins owl:Class HP:0033217 biolink:NamedThing Perihilar glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. tmpxe7fu0cj_hp_relaxed.owl 2020-10-24 12:08:52+00:00 Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. peter owl:Class HP:0025157 biolink:NamedThing Increased urinary sedoheptulose An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group. tmpxe7fu0cj_hp_relaxed.owl 2016-12-04 12:36:02+00:00 HPO:probinson owl:Class HP:0007179 biolink:NamedThing Absent smooth pursuit A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024928 human_phenotype owl:Class CHEBI:76761 biolink:NamedThing EC 3.2.* (glycosylase) inhibitor A hydrolase inhibitor that interferes with the action of any glycosylase (EC 3.2.*.*). tmpxe7fu0cj_hp_relaxed.owl EC 3.2.* (glycosylase) inhibitors|EC 3.2.* inhibitors|EC 3.2.* inhibitor|glycosylase (EC 3.2.*) inhibitor|glycosylase inhibitor|glycosylase inhibitors|glycosylase (EC 3.2.*) inhibitors chebi_ontology owl:Class HP:0010441 biolink:NamedThing Ectopic accessory finger-like appendage In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023825 doelkens 2009-07-29T01:34:47Z human_phenotype owl:Class HP:0000127 biolink:NamedThing Renal salt wasting A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). tmpxe7fu0cj_hp_relaxed.owl Loss of salt in urine|Renal salt-wasting|Salt-wasting|Salt wasting UMLS:C1846347 owl:Class HP:0006276 biolink:NamedThing Hyperechogenic pancreas tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857945 human_phenotype owl:Class HP:5000046 biolink:NamedThing Anti-Lrp4 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4). tmpxe7fu0cj_hp_relaxed.owl Anti-low-density lipoprotein receptor-related protein 4 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0033414 biolink:NamedThing Lower extremity hypokinesia Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. tmpxe7fu0cj_hp_relaxed.owl Hypokinesia of the lower extremities 2021-01-09 16:33:56+00:00 peter owl:Class HP:0500115 biolink:NamedThing Increased stool urobilinogen concentration An increased amount of urobilinogen present in the stool. tmpxe7fu0cj_hp_relaxed.owl 2018-07-20 15:00:15+00:00 Urobilinogen is formed from the reduction of bilirubin. An increased amount of urobilinogen in the urine may be indicative of liver disease. owl:Class HP:0003068 biolink:NamedThing Madelung-like forearm deformities tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851419 human_phenotype owl:Class HP:0031602 biolink:NamedThing Abnormal mucociliary clearance An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating. tmpxe7fu0cj_hp_relaxed.owl Abnormal mucociliary transport 2017-10-22 12:41:51+00:00 peter owl:Class HP:0007502 biolink:NamedThing Follicular hyperkeratosis A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. tmpxe7fu0cj_hp_relaxed.owl Hyperkeratosis follicularis SNOMEDCT_US:81845009|SNOMEDCT_US:238629004|SNOMEDCT_US:402341008|UMLS:C0334013 HP:0007600 human_phenotype owl:Class HP:0003762 biolink:NamedThing Uterus didelphys A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. tmpxe7fu0cj_hp_relaxed.owl Double uterus SNOMEDCT_US:22504001|UMLS:C0152240|UMLS:C0266393|SNOMEDCT_US:15545001 human_phenotype owl:Class HP:0005525 biolink:NamedThing Spontaneous hemolytic crises tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025184 human_phenotype owl:Class HP:0009907 biolink:NamedThing Attached earlobe Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward. tmpxe7fu0cj_hp_relaxed.owl Attached earlobe|Adherent earlobe UMLS:C4021375 The earlobe does not have a dependent portion. peter 2009-05-01T02:57:50Z owl:Class PATO:0000950 biolink:NamedThing grey A color between white and black colors. tmpxe7fu0cj_hp_relaxed.owl plumbeous quality owl:Class HP:0031362 biolink:NamedThing Sex-limited autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes in a sex-specific manner (i.e. only in males or only in females). tmpxe7fu0cj_hp_relaxed.owl 2017-08-29 11:43:01+00:00 peter owl:Class HP:0000804 biolink:NamedThing Xanthine nephrolithiasis The presence of xanthine-containing calculi (stones) in the kidneys. tmpxe7fu0cj_hp_relaxed.owl Xanthine stones|Urinary xanthine stones UMLS:C1848431 human_phenotype owl:Class HP:0004029 biolink:NamedThing Lytic defects of radial diaphysis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025432 human_phenotype owl:Class HP:0003023 biolink:NamedThing Bowing of limbs due to multiple fractures Curvature of the shafts of the long bones due to multiple fractures. tmpxe7fu0cj_hp_relaxed.owl Bowed limbs due to multiple fractures UMLS:C1850178 human_phenotype owl:Class HP:0003252 biolink:NamedThing Anteriorly displaced genitalia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1848653 human_phenotype owl:Class HP:0020102 biolink:NamedThing Pneumocystis jirovecii pneumonia An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 19:15:19+00:00 Pneumocystis, initially considered to be a protozoan, later has been assigned to the kingdom of fungi. robinp owl:Class HP:0033464 biolink:NamedThing Elevated circulating 3-hydroxypalmitoleylcarnitine concentration Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating 3-OH-palmitoleylcarnitine concentration|Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH 2021-01-09 22:32:19+00:00 peter owl:Class HP:0025506 biolink:NamedThing Coronary artery sandwich anomaly Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels, tmpxe7fu0cj_hp_relaxed.owl Anomalous coronary artery with aortic origin and course between the great arteries 2017-05-14 23:20:37+00:00 Further synonyms include Anomalous origin of the coronary artery from the opposite sinus of Valsalva with an interarterial course and Anomalous origin of the coronary artery from the wrong sinus of Valsalva with a proximal course between the aorta and pulmonary artery HPO:probinson owl:Class HP:0031718 biolink:NamedThing Consecutive exotropia Exotropia in an individual who has previously had esotropia or esophoria. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 13:36:10+00:00 peter owl:Class HP:0008125 biolink:NamedThing Second metatarsal posteriorly placed tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859224 human_phenotype owl:Class HP:0025315 biolink:NamedThing Exacerbated by head trauma Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma. tmpxe7fu0cj_hp_relaxed.owl 2016-12-21 02:22:58+00:00 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease is an autosomal recessive disorder characterized by ataxia, spasticity, and variable optic atrophy. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma. HPO:probinson owl:Class HP:0030597 biolink:NamedThing Abnormal Humphrey SITA 24-2 perimetry test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073069 owl:Class PATO:0001780 biolink:NamedThing dystrophic A size quality inhering in a bearer by virtue of the bearer's being abnormally developed, usually due to malnutrition. tmpxe7fu0cj_hp_relaxed.owl dystrophy|dystrophied quality owl:Class HP:0032504 biolink:NamedThing Lhermitte's sign An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk. tmpxe7fu0cj_hp_relaxed.owl Lhermitte's phenomenon|Barber chair phenomenon 2019-05-23 22:58:55+00:00 Lhermitte's sign is caused by miscommunication between the nerves that have become demyelinated. The pathophysiology of Lhermitte's sign was described as the stretching of the hyper excitable demyelinated dorsal column of the spinal cord, particularly at the cervical level, thus triggering an electric shock-like sensation. peter owl:Class HP:0002372 biolink:NamedThing Normal interictal EEG Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843146 human_phenotype owl:Class HP:0032489 biolink:NamedThing Elevated fecal pH Abnormally high fecal pH, i.e., abnormal alkalinity of feces. tmpxe7fu0cj_hp_relaxed.owl Elevated faecal pH 2019-04-11 11:45:31+00:00 peter owl:Class HP:0008273 biolink:NamedThing Transient aminoaciduria tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024713 owl:Class HP:0002691 biolink:NamedThing Platybasia A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. tmpxe7fu0cj_hp_relaxed.owl Flattening of the skull base|Obtuse basal angle of skull base|Increased basal angle of skull base MSH:D010985|UMLS:C0032209|SNOMEDCT_US:86587003 Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the centre of the pituitary fossa line joining the anterior border of the foramen magnum with the centre of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees. owl:Class HP:0032414 biolink:NamedThing Hydroxylysinuria The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 21:34:45+00:00 peter owl:Class HP:0040169 biolink:NamedThing Loose anagen hair tmpxe7fu0cj_hp_relaxed.owl UMLS:C3554793 owl:Class HP:0100487 biolink:NamedThing Triangular shaped distal phalanx of the 5th toe tmpxe7fu0cj_hp_relaxed.owl Triangular shaped outermost bone of the little toe|Triangular shaped outermost bone of the pinkie toe|Triangular shaped outermost bone of the pinky toe UMLS:C4022044 human_phenotype owl:Class HP:5000007 biolink:NamedThing Anti-DPPX antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX). tmpxe7fu0cj_hp_relaxed.owl Anti-dipeptidyl-peptidase-like protein 6 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0032559 biolink:NamedThing Short sperm flagella Sperm cells with abnormally short flagella. tmpxe7fu0cj_hp_relaxed.owl 2019-06-15 00:21:15+00:00 See Figure 1B of PMID:30867909. peter owl:Class HP:0100963 biolink:NamedThing Hyperesthesia Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. tmpxe7fu0cj_hp_relaxed.owl Hyperaesthesia UMLS:C0020453|MSH:D006941|SNOMEDCT_US:14151009 Hyperesthesia is a common symptom of neuropathic pain. Neuropathic pain is defined by the International Association for the Study of Pain as pain caused by a lesion or disease of the somatosensory system. The neuropathic pain phenotype contains a spectrum of symptoms that can be roughly categorized into positive and negative symptoms. Hyperesthesia is a positive symptom of neuropathic pain. Positive symptoms are categorized as stimulus-dependent pain, stimulus-independent pain, and paresthesias. doelkens 2012-01-18T06:11:19Z owl:Class HP:0007942 biolink:NamedThing Internal ophthalmoplegia Paralysis of the iris and ciliary apparatus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0339693|SNOMEDCT_US:232146005|MSH:D009886 Paralysis of the internal ocular muscles, the iris and ciliary apparatus. human_phenotype owl:Class HP:0032827 biolink:NamedThing Multifocal neonatal sequential seizure Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs. tmpxe7fu0cj_hp_relaxed.owl No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic etiology. peter owl:Class HP:0011254 biolink:NamedThing Type II cryptotia A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected. tmpxe7fu0cj_hp_relaxed.owl Type 2 cryptotia UMLS:C4023441 peter 2011-12-18T02:15:48Z human_phenotype owl:Class HP:0000668 biolink:NamedThing Hypodontia The absence of five or less teeth from the normal series by a failure to develop. tmpxe7fu0cj_hp_relaxed.owl Failure of development of between one and six teeth|Missing between one and six teeth SNOMEDCT_US:64969001|UMLS:C0020608|MSH:D000848 Hypodontia needs to be confirmed by X-rays. The terms hypodontia and oligodontia have been used interchangeably in literature but these define two different clinical entities. Hypodontia has been used to define exclusively the absence of permanent teeth and excluding third molars, but the absence of any deciduous and permanent teeth, including third molars, should be called hypodontia as well. owl:Class PATO:0002163 biolink:NamedThing herniated into A quality inhering in a bearer by virtue of the bearer's bodily structure that has protruded through an abnormal opening in the wall that contains it into the surface or boundary of another entity. tmpxe7fu0cj_hp_relaxed.owl 2009-11-26T04:50:43Z quality owl:Class HP:0100784 biolink:NamedThing Peripheral arteriovenous fistula tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021971 doelkens 2011-06-07T06:03:29Z human_phenotype owl:Class HP:4000003 biolink:NamedThing Elevated myocardial native T2 Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema. tmpxe7fu0cj_hp_relaxed.owl 2021-04-24 14:32:56+00:00 robinp owl:Class HP:0010953 biolink:NamedThing Noncommunicating hydrocephalus A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:82346000|SNOMEDCT_US:230746009|MSH:D006849|UMLS:C0549423 The most common form of noncommunicating hydrocephalus is obstructive and is caused by intraventricular or extraventricular mass-occupying lesions that disrupt the ventricular anatomy. peter 2011-01-17T02:22:26Z owl:Class HP:0031883 biolink:NamedThing Increased proinsulin:insulin ratio An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation. tmpxe7fu0cj_hp_relaxed.owl 2018-05-07 10:24:19+00:00 peter owl:Class HP:0003657 biolink:NamedThing Granular osmiophilic deposits (GROD) in cells tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859833 human_phenotype owl:Class HP:0200054 biolink:NamedThing Foot monodactyly tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021896 doelkens 2011-11-22T09:56:55Z human_phenotype owl:Class HP:0001967 biolink:NamedThing Diffuse mesangial sclerosis Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. tmpxe7fu0cj_hp_relaxed.owl Mesangial sclerosis|Diffuse mesangial sclerosis glomerulopathy UMLS:C0268747|MSH:C537346|SNOMEDCT_US:111406002 This finding can be demonstrated by renal biopsy. HP:0004728 human_phenotype owl:Class HP:0033270 biolink:NamedThing Glomerular capillary congestion Global distention of glomerular capillaries with intraluminal intact red blood cells. tmpxe7fu0cj_hp_relaxed.owl Glomerular congestion 2020-11-28 16:07:32+00:00 peter owl:Class GO:0051355 biolink:NamedThing proprioception involved in equilibrioception tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0009721 biolink:NamedThing Shagreen patch A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:254244007|UMLS:C0432363 peter 2009-01-31T09:36:32Z human_phenotype owl:Class HP:0033469 biolink:NamedThing 10-minute APGAR score of 1 tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 22:45:27+00:00 peter owl:Class HP:0032108 biolink:NamedThing Mildly reduced contrast sensitivity A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss. tmpxe7fu0cj_hp_relaxed.owl Mild reduction in contrast sensitivity 2018-11-17 14:16:34+00:00 peter owl:Class HP:0100345 biolink:NamedThing Tibial deviation of the 2nd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022135 doelkens 2010-11-11T03:44:07Z human_phenotype owl:Class MAXO:0010360 biolink:NamedThing bronchography procedure The radiographic examination of the tracheobronchial tree following the injection of a radiopaque material. tmpxe7fu0cj_hp_relaxed.owl radiography of tracheobronchial tree|bronchographic image procedure|bronchography|tracheobronchial tree radiogram procedure|radiograph of tracheobronchial tree|tracheobronchial tree X-ray procedure 2020-04-27T20:39:14Z NCIT:C38040 http://orcid.org/0000-0001-7941-2961 owl:Class HP:0002651 biolink:NamedThing Spondyloepimetaphyseal dysplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C0432211|SNOMEDCT_US:254062008 human_phenotype owl:Class HP:0002330 biolink:NamedThing Paroxysmal drowsiness Attacks of disabling daytime drowsiness and low alertness. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025713 human_phenotype owl:Class HP:0002329 biolink:NamedThing Drowsiness Excessive daytime sleepiness. tmpxe7fu0cj_hp_relaxed.owl Sleepy|Drowsiness SNOMEDCT_US:79519003|MSH:D012894|SNOMEDCT_US:271782001|UMLS:C0013144 human_phenotype owl:Class MPATH:287 biolink:NamedThing islet cell adenoma Usually pancreatic B cell derived tumors mostly producing insulin. (M- 8150/0). tmpxe7fu0cj_hp_relaxed.owl islet (pancreatic) cell tumor benign|adenomatosis|Adenoma, endocrine pancreas mouse_pathology.ontology owl:Class HP:0031773 biolink:NamedThing Posterior communicating artery aneurysm A widening (ballooning) localized in the wall of the posterior communicating artery. tmpxe7fu0cj_hp_relaxed.owl 2018-01-27 11:27:22+00:00 Posterior communicating artery aneurysm can leads to an acute palsy of the third cranial nerve with ipsilateral pupil dilation. Posterior communicating aneurysms can be classified into aneurysms that project laterally and below the tentorial incisura and cause oculomotor nerve compression, and aneurysms that project laterally above the tentorium that can manifest as temporal lobe hematoma if they rupture. peter owl:Class HP:0002972 biolink:NamedThing Reduced delayed hypersensitivity Decreased ability to react to a delayed hypersensitivity skin test. tmpxe7fu0cj_hp_relaxed.owl Decreased reactivity to skin test antigens|Impaired delayed hypersensitivity|Deficiency of delayed skin hypersensitivity UMLS:C1843386 HP:0005434 human_phenotype owl:Class HP:0030742 biolink:NamedThing Glial remnants posterior to lens This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot. tmpxe7fu0cj_hp_relaxed.owl Mittendorf dot SNOMEDCT_US:370483001|UMLS:C1299892 owl:Class HP:0500228 biolink:NamedThing Decreased CSF serine concentration Abnormally decreased levels of serine in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Low serine levels in cerebrospinal fluid 2019-02-25 20:32:46+00:00 owl:Class HP:0034131 biolink:NamedThing Anti-GT1b antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside. tmpxe7fu0cj_hp_relaxed.owl 2021-12-23 11:56:33+00:00 peter owl:Class HP:0033404 biolink:NamedThing Intestinal ischemia Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the digit. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 15:23:20+00:00 peter owl:Class GO:0061383 biolink:NamedThing trabecula morphogenesis The process of shaping a trabecula in an organ. A trabecula is a small, often microscopic, tissue element in the form of a small beam, strut or rod, which generally has a mechanical function. Trabecula are usually but not necessarily, composed of dense collagenous tissue. tmpxe7fu0cj_hp_relaxed.owl dph 2010-12-02T08:51:45Z biological_process owl:Class HP:0033140 biolink:NamedThing Blake's pouch cyst The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna. tmpxe7fu0cj_hp_relaxed.owl 2020-09-12 15:35:37+00:00 peter owl:Class HP:0025247 biolink:NamedThing Dermoid cyst A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm. tmpxe7fu0cj_hp_relaxed.owl 2016-12-17 13:49:23+00:00 HPO:probinson owl:Class HP:0011406 biolink:NamedThing Infancy onset short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy. tmpxe7fu0cj_hp_relaxed.owl Short-trunk dwarfism, identifiable in infancy UMLS:C1846061 peter 2012-03-15T09:45:48Z HP:0008851 human_phenotype owl:Class HP:0030855 biolink:NamedThing Anterior staphyloma A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:231888000|UMLS:C0339206 owl:Class HP:0010635 biolink:NamedThing Partial hyposmia Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023765 peter 2009-12-06T07:54:13Z owl:Class NBO:0000851 biolink:NamedThing increased amount of liquid in a single drinking act tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0033669 biolink:NamedThing Enlarged amygdala A increase in the volume (size) of the amygdyla. tmpxe7fu0cj_hp_relaxed.owl Amygdalar enlargement 2021-02-28 14:56:54+00:00 Amygdalar enlargement is observed in a minority of people with intractable temporal lobe epilepsy. peter owl:Class HP:5000036 biolink:NamedThing Anti-TRIM9/TRIM67 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67. tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-3387-1836 owl:Class MAXO:0010363 biolink:NamedThing mammography procedure A type of radiography used specifically to examine breast tissue. The procedure utilizes a low-dose of x-rays or radiation to generate an image. A mammography exam or mammogram, is used as a screening tool to detect early breast cancer in women experiencing no symptoms and to detect and diagnose breast disease. tmpxe7fu0cj_hp_relaxed.owl radiography of breast|radiograph of breast|mammography|breast radiogram procedure|breast X-ray procedure 2020-04-27T20:39:14Z NCIT:C16818 http://orcid.org/0000-0001-7941-2961 owl:Class HP:0008080 biolink:NamedThing Hallux varus Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially. tmpxe7fu0cj_hp_relaxed.owl Medially deviated halluces UMLS:C0546297|MSH:D050488|SNOMEDCT_US:274147008 human_phenotype owl:Class CL:0000127 biolink:NamedThing astrocyte A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury. tmpxe7fu0cj_hp_relaxed.owl astrocytic glia FMA:54537|BTO:0000099|CALOHA:TS-0060 Astrocytes are reportedly CD68-negative, CD121a-positive, CD184-positive, CD192-positive, CRF-positive, EGFR-positive, GFAP-positive, GLUT1-positive, MBP-negative, and NGFR-positive. cell owl:Class HP:0012495 biolink:NamedThing Posterior cerebral artery stenosis Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1504569 peter 2013-11-30T08:07:04Z human_phenotype owl:Class HP:0030032 biolink:NamedThing Partial absence of foot An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals. tmpxe7fu0cj_hp_relaxed.owl Partial absence of foot UMLS:C4022666 owl:Class HP:0007859 biolink:NamedThing Congenital horizontal nystagmus Horizontal nystagmus dating from or present at birth. tmpxe7fu0cj_hp_relaxed.owl Nystagmus, congenital horizontal UMLS:C1866180 human_phenotype owl:Class HP:0032938 biolink:NamedThing Recurrent trauma-related distressing dreams Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class GO:0071742 biolink:NamedThing IgE immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgE isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgE immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpxe7fu0cj_hp_relaxed.owl Note that an IgE immunoglobulin complex has the function of antigen binding if a suitable antigen is available. mah 2010-03-24T01:44:53Z cellular_component owl:Class MPATH:309 biolink:NamedThing gonadal tumor Germ cell and non-germ cell tumors of the testis and ovary. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0012491 biolink:NamedThing Abnormal dense tubular system An anomaly of the intracellular membrane complexes known as the dense tubular system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022881 The dense tubular system (DTS) functions to regulate platelet activation by sequestering or releasing calcium, similar to the sarcotubules of skeletal muscle. In resting platelets, the DTS exists as thin elongated membranes. Within 10 seconds of the addition of thrombin, platelets show a major ultrastructural change in their DTS: from the thin elongated form to a rounded vesicular form. peter 2013-11-29T09:35:44Z human_phenotype owl:Class HP:0012454 biolink:NamedThing Unilateral wrist flexion contracture A chronic loss of wrist joint motion on one side only. tmpxe7fu0cj_hp_relaxed.owl Unilateral wrist contracture UMLS:C4022898|UMLS:C4020722 peter 2013-11-23T07:59:39Z human_phenotype owl:Class HP:0012441 biolink:NamedThing Sphincter of Oddi dyskinesia Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum. tmpxe7fu0cj_hp_relaxed.owl Sphincter of Oddi dysfunction SNOMEDCT_US:430887001|UMLS:C4048750|MSH:D046628|UMLS:C0878588 The sphincter of Oddi (also known as sphincter of ampulla) is a muscular valve that controls the flow of bile and pancreatic juice through the ampulla of Vater into the second part of the duodenum. Increased tone of the sphincter or disturbance in the coordination of contraction of the biliary ducts prevents normal emptying of the biliary tree. This may result in biliary pain, common bile duct dilation and episodes of pancreatitis. peter 2013-11-23T02:21:59Z human_phenotype owl:Class GO:0036066 biolink:NamedThing protein O-linked fucosylation The process of transferring a fucosyl group to a serine or threonine residues in a protein acceptor molecule, to form an O-linked protein-sugar linkage. tmpxe7fu0cj_hp_relaxed.owl bf 2011-12-15T11:17:20Z biological_process owl:Class HP:0025357 biolink:NamedThing Erratic myoclonus A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous. tmpxe7fu0cj_hp_relaxed.owl Fragmentary myoclonus 2017-02-17 12:01:58+00:00 Erratic may appear immediately after birth.Definition adapted from The Epilepsies: Seizures, Syndromes and Management; Chapter 5: Neonatal Seizures and Neonatal Syndromes; NCBI Book NBK2599. HPO:probinson owl:Class PATO:0001815 biolink:NamedThing fatigability A strength quality inhering in a bearer by virtue of the bearer's disposition to lose strength. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0020086 biolink:NamedThing BCGitis Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 17:25:28+00:00 The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis. robinp owl:Class HP:0100499 biolink:NamedThing Tibial deviation of toes tmpxe7fu0cj_hp_relaxed.owl Medial deviation of toes UMLS:C3806533 doelkens 2010-12-17T04:25:59Z human_phenotype owl:Class HP:0031355 biolink:NamedThing Maintenance insomnia Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep. tmpxe7fu0cj_hp_relaxed.owl Waking up several times during the night 2017-08-27 15:04:00+00:00 peter owl:Class HP:0002839 biolink:NamedThing Urinary bladder sphincter dysfunction Abnormal function of a sphincter of the urinary bladder. tmpxe7fu0cj_hp_relaxed.owl Sphincter disturbances|Sphincter disturbance UMLS:C1843663 HP:0000018 human_phenotype owl:Class HP:0012784 biolink:NamedThing Perinephritis Inflammation of the connective and adipose tissues surrounding the kidney. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:111404004|UMLS:C0031065|MSH:D010501 peter 2014-04-20T03:32:07Z human_phenotype owl:Class HP:0012582 biolink:NamedThing Bilateral renal dysplasia A bilateral form of developmental dysplasia of the kidney. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:204950001|UMLS:C0431698 peter 2014-01-16T03:14:35Z human_phenotype owl:Class HP:0033949 biolink:NamedThing Arcuate artery intima/media granulomatous arteriitis A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. tmpxe7fu0cj_hp_relaxed.owl Granulomatous arteritis within arcuate arterial intima/media 2021-06-24 12:16:22+00:00 peter owl:Class HP:0011212 biolink:NamedThing EEG with photoparoxysmal response grade II Occurence of epileptiform discharges in occipital and central regions during photic stimulation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023463 peter 2011-11-19T12:59:32Z human_phenotype owl:Class HP:0007396 biolink:NamedThing Early cutaneous photosensitivity Photosensitivity of the skin occurring early in life. tmpxe7fu0cj_hp_relaxed.owl Sun sensitivity occurring early in life UMLS:C4024889 human_phenotype owl:Class HP:0002882 biolink:NamedThing Sudden episodic apnea Recurrent bouts of sudden, severe apnea that may be life-threatening. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025671 human_phenotype owl:Class HP:0033919 biolink:NamedThing Medial/intimal arcuate venulitis Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural. tmpxe7fu0cj_hp_relaxed.owl 2021-06-24 00:52:50+00:00 peter owl:Class HP:0010835 biolink:NamedThing Dissociated sensory loss A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:87275002|UMLS:C0278136 Dissociated sensory loss indicates a focal lesion within the spinal cord or brainstem. peter 2010-07-10T07:28:04Z human_phenotype owl:Class HP:0002572 biolink:NamedThing Episodic vomiting Paroxysmal, recurrent episodes of vomiting. tmpxe7fu0cj_hp_relaxed.owl Frequent vomiting|Episodic vomiting UMLS:C1857202|UMLS:C1838993 human_phenotype owl:Class HP:0100009 biolink:NamedThing Intracranial meningioma tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:302820008|MSH:D008579|UMLS:C0349604 doelkens 2010-05-14T09:29:27Z human_phenotype owl:Class HP:0005612 biolink:NamedThing Arthrogryposis-like hand anomaly tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025173 human_phenotype owl:Class HP:0000522 biolink:NamedThing Alacrima Absence of tear secretion. tmpxe7fu0cj_hp_relaxed.owl Absent lacrimal fluids|Absence of tears in the eyes|Absent tear secretion MSH:C562827|UMLS:C0344505|SNOMEDCT_US:253215004 Alacrima is generally a congenital deficiency. human_phenotype owl:Class HP:0025390 biolink:NamedThing Reticular pattern on pulmonary HRCT On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. tmpxe7fu0cj_hp_relaxed.owl 2017-04-22 12:55:23+00:00 The constituents of the reticular pattern may be all or some of the following: interlobular septal thickening, intralobular interstitial thickening, wall cysts of honeycombing, peribronchovascular interstitial thickening and traction bronchiectasis/bronchiolectasis HPO:probinson owl:Class HP:0007574 biolink:NamedThing Generalized bronze hyperpigmentation tmpxe7fu0cj_hp_relaxed.owl Bronze skin|Generalised bronze hyperpigmentation UMLS:C2939074|UMLS:C4024842 human_phenotype owl:Class HP:0031769 biolink:NamedThing Peripheral fixation Fixation of an object in a peripheral area of the retina. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:55:27+00:00 peter owl:Class HP:0012706 biolink:NamedThing Elevated brain choline level by MRS An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022763 The Choline (Cho) peak is a heterogeneous peak representing various choline-containing compounds such as acetylcholine, phosphocholine (lecithin), glycerophosphocholine, and various other intermediates of phospholipids metabolism. It is an indicator of cell density and cell wall turnover. Elevated levels are found in tumors, especially malignant ones, and in certain demyelinating diseases. Choline resonance presents at 3.22 ppm. Studies have shown there is also a direct association between Cho and levels of Ki-67, a protein expressed in all phases of the cell cycle except GO that serves as a good marker for cellular proliferation. This observation makes Cho a reliable predictor of cellular activity in tumor tissue. peter 2014-03-22T08:06:29Z human_phenotype owl:Class HP:0006927 biolink:NamedThing Unilateral polymicrogyria Excessive number of small gyri (convolutions) on the surface of one side of the brain. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:715905006|UMLS:C4024960 human_phenotype owl:Class HP:0020147 biolink:NamedThing 2-Methylbutyryl glycinuria Increased concentration of 2-methylbutyryl glycine in the urine. tmpxe7fu0cj_hp_relaxed.owl This phenotype can be related to a defect in the degradation pathway of L- isoleucine leading to increased urinary excretion of 2-methylbutyryl glycine. robinp 2019-07-05 19:25:20+00:00 owl:Class HP:0008162 biolink:NamedThing Asymptomatic hyperammonemia An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy. tmpxe7fu0cj_hp_relaxed.owl Hyperammonemia, asymptomatic UMLS:C4021552 human_phenotype owl:Class HP:0012000 biolink:NamedThing EEG with generalized spikes EEG with generalized sharp transient waves of a duration less than 80 msec. tmpxe7fu0cj_hp_relaxed.owl EEG with generalised spikes UMLS:C2206531 hecht 2012-07-20T11:39:52Z human_phenotype owl:Class HP:0010739 biolink:NamedThing Osteopoikilosis Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake. tmpxe7fu0cj_hp_relaxed.owl MSH:D010023|UMLS:C0029455|SNOMEDCT_US:9147009 doelkens 2010-04-21T07:19:11Z human_phenotype owl:Class HP:0031438 biolink:NamedThing Abnormal sex hormone-binding globulin level A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 12:29:14+00:00 Sex hormone-binding globulin (SHBG, Gene ID: 6462) binds the three sex hormones estrogen, dihydrotestosterone (DHT), and testosterone. Reduction in the level of SHBG can result in an increased level of free (unbound, and therefore active) sex hormones. peter owl:Class HP:0500017 biolink:NamedThing Abnormal cardiac catheterization Abnormal results from the diagnostic tests resulting from cardiac catheterization. tmpxe7fu0cj_hp_relaxed.owl Abnormal cardiac cath 2017-05-12 16:36:51+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0031122 biolink:NamedThing Two-raphe bicuspid aortic valve A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 12:06:51+00:00 peter owl:Class HP:0025124 biolink:NamedThing Fragile teeth A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma. tmpxe7fu0cj_hp_relaxed.owl Spontaneous tooth fracture|Enamel with tendency to chip 2016-11-14 01:53:11+00:00 HPO:probinson owl:Class HP:0100515 biolink:NamedThing Pollakisuria Increased frequency of urination. tmpxe7fu0cj_hp_relaxed.owl Frequent urination|Constant urination UMLS:C0042023|SNOMEDCT_US:162116003|SNOMEDCT_US:300471006 doelkens 2010-12-20T10:34:28Z human_phenotype owl:Class PR:000007891 biolink:NamedThing pro-glucagon A protein that is a translation product of the human GCG gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl GCG Category=gene. protein owl:Class HP:0031764 biolink:NamedThing Fully accomodative esotropia Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:47:50+00:00 peter owl:Class HP:0006564 biolink:NamedThing Fluctuating hepatomegaly Intermittently increased size of the liver. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1835881 human_phenotype owl:Class HP:0012097 biolink:NamedThing Intracranial dermoid cyst A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023044 See Figure 9 in PMID:16714456. These cysts increase in size by means of glandular secretion and epithelial desquamation. Growth can lead to rupture of the cyst contents, causing a chemical meningitis that may lead to vasospasm, infarction, and even death. peter 2012-08-20T09:22:25Z human_phenotype owl:Class HP:0007734 biolink:NamedThing Enlarged lacrimal glands Abnormally big lacrimal glands. tmpxe7fu0cj_hp_relaxed.owl Enlarged tear gland UMLS:C1867030 human_phenotype owl:Class HP:0033651 biolink:NamedThing Pulmonary mycetoma A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma. tmpxe7fu0cj_hp_relaxed.owl Lung fungus ball 2021-02-24 12:56:44+00:00 See Figure 40 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0032063 biolink:NamedThing Ankle joint effusion Abnormal accumulation of fluid in or around the ankle joint. tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 12:08:37+00:00 peter owl:Class HP:0020158 biolink:NamedThing Increased circulating adrenic acid concentration An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased circulating docosatetraenoate level robinp 2019-07-06 19:34:06+00:00 owl:Class HP:0045012 biolink:NamedThing Decreased urinary catecholamine concentration tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022398 HPO:skoehler owl:Class HP:0002741 biolink:NamedThing Recurrent Serratia marcescens infections Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025682 human_phenotype owl:Class HP:0030208 biolink:NamedThing Anti-acetylcholine receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury. tmpxe7fu0cj_hp_relaxed.owl Acetylcholine receptor antibody positivity|Anti-AChR antibody positivity UMLS:C4022578 owl:Class HP:0025428 biolink:NamedThing Bronchospasm A spasm (sudden, involuntary constriction) of the bronchioles. tmpxe7fu0cj_hp_relaxed.owl 2017-04-23 12:52:53+00:00 HPO:probinson owl:Class HP:0033224 biolink:NamedThing Glomerular parietal epithelial cell hyperplasia Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. tmpxe7fu0cj_hp_relaxed.owl Hyperplasia of the glomerular parietal epithelial cell 2020-10-30 10:27:18+00:00 peter owl:Class HP:0011578 biolink:NamedThing Transitional atrioventricular canal defect A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023289 peter 2012-04-08T10:58:47Z human_phenotype owl:Class HP:0030676 biolink:NamedThing Satyr ear Sharp pointed superior portion of the ear, with variable overfolding of the helix. tmpxe7fu0cj_hp_relaxed.owl Devil ear UMLS:C4048833 The satyr ear appears to have an abnormally small upper-lateral portion. More extensive underdevelopment continuing down to and including the lobe produces a more extreme anomaly that, unfortunately, has been called Devil ear. HPO:skoehler owl:Class HP:0005437 biolink:NamedThing Recurrent infections in infancy and early childhood Recurrent infections at an early age with improvement in later childhood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844909 human_phenotype owl:Class HP:0012399 biolink:NamedThing Pressure ulcer A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips. tmpxe7fu0cj_hp_relaxed.owl Pressure ulcer|Pressure Sore|Decubitus Ulcer|Bedsore UMLS:C0011127|SNOMEDCT_US:399912005|MSH:D003668|SNOMEDCT_US:420226006 Pressure ulcers tend to affect persons with reduced mobility who are bedridden or wheelchair-bound. peter 2013-11-08T08:49:52Z human_phenotype owl:Class HP:0033724 biolink:NamedThing Central venous sinus thrombosis An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses. tmpxe7fu0cj_hp_relaxed.owl 2021-04-07 16:35:17+00:00 peter owl:Class HP:0500250 biolink:NamedThing Increased circulating ethanolamine concentration Abnormally increased levels of ethanolamine in circulation. tmpxe7fu0cj_hp_relaxed.owl High ethanolamine levels in the blood 2019-02-26 16:09:12+00:00 owl:Class HP:0011327 biolink:NamedThing Posterior plagiocephaly Asymmetry of the posterior part of the skull. tmpxe7fu0cj_hp_relaxed.owl Deformational posterior plagiocephaly|Occipital plagiocephaly UMLS:C4021160 Anterior plagiocephaly may have synostotic or non-synostotic causes. peter 2012-02-25T02:11:33Z human_phenotype owl:Class HP:0410018 biolink:NamedThing Recurrent ear infections Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections. tmpxe7fu0cj_hp_relaxed.owl Recurrent ear infections|Frequent ear infections owl:Class HP:0500188 biolink:NamedThing Decreased CSF valine concentration Any decreased amount from normal of valine in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Low valine levels in cerebrospinal fluid 2019-02-25 15:40:23+00:00 owl:Class NBO:0000054 biolink:NamedThing suckling behavior "Specific actions of a newborn or infant mammal that result in the derivation of nourishment from the breast." [GOC:dph] GO:0001967 tmpxe7fu0cj_hp_relaxed.owl suckling behaviour|nursing behaviour 2011-04-14T01:03:39Z George Gkoutos NBO:0000046 behavior_ontology owl:Class HP:0031111 biolink:NamedThing Cutaneous hamartoma A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin. tmpxe7fu0cj_hp_relaxed.owl Skin hamartoma 2017-08-31 23:10:53+00:00 robinp owl:Class HP:0032396 biolink:NamedThing Transmantle columnar heterotopia Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 16:09:59+00:00 peter owl:Class PATO:0000394 biolink:NamedThing mild intensity An intensity which is less than moderate in type or degree or effect or force. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0000650 biolink:NamedThing Abnormal amplitude of pattern reversal visual evoked potentials tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025834 human_phenotype owl:Class HP:0025372 biolink:NamedThing Loud snoring Particularly loud snoring, snoring at high volume. tmpxe7fu0cj_hp_relaxed.owl Heavy snoring|Have loud snoring|Has loud snoring|Snores loudly 2017-03-15 11:53:28+00:00 HPO:probinson owl:Class HP:0032807 biolink:NamedThing Neonatal seizure A seizure occurring within the neonatal period (28 days beyond the full term date). tmpxe7fu0cj_hp_relaxed.owl This term encompasses clinical only (motor or non-motor without electrographic confirmation), electro-clinical and electrographic only seizures. Where the seizure also meets the definition of status epilepticus it should be coded twice. peter owl:Class HP:0005340 biolink:NamedThing Spastic/hyperactive bladder tmpxe7fu0cj_hp_relaxed.owl UMLS:C1836904 human_phenotype owl:Class HP:0032013 biolink:NamedThing Hypermetric horizontal saccades Overshoot of horizontal (sideways) saccadic eye movements. tmpxe7fu0cj_hp_relaxed.owl 2018-07-22 16:28:02+00:00 peter owl:Class HP:0007617 biolink:NamedThing Fine, reticulate skin pigmentation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024828 human_phenotype owl:Class HP:0500255 biolink:NamedThing Increased level of hexanoylglycine in urine Elevated concentration of hexanoylglycine in the urine. tmpxe7fu0cj_hp_relaxed.owl Elevated urinary N-hexanoylglycine concentration 2019-03-08 21:01:41+00:00 owl:Class HP:0002726 biolink:NamedThing Recurrent Staphylococcus aureus infections Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection. tmpxe7fu0cj_hp_relaxed.owl Staphylococcus aureus infections, recurrent UMLS:C2673462 human_phenotype owl:Class HP:0007499 biolink:NamedThing Recurrent staphylococcal infections Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections. tmpxe7fu0cj_hp_relaxed.owl Recurrent staphylococcal infections UMLS:C4024862 human_phenotype owl:Class HP:0410345 biolink:NamedThing Increased urinary polyhexose An abnormal increase in the concentration of polyhexose in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased polyhexose concentration in urine owl:Class HP:0100809 biolink:NamedThing Scalp tenderness Pain or discomfort of the scalp elicited by palpation. tmpxe7fu0cj_hp_relaxed.owl Allodynia of scalp|Scalp tenderness|Scalp hypersensitivity|Scalp pain UMLS:C4073183|UMLS:C0151206|SNOMEDCT_US:75851004|UMLS:C0240940|MEDDRA:10039521 doelkens 2011-06-09T01:46:12Z human_phenotype owl:Class HP:0033813 biolink:NamedThing Perilobular Situated or occurring around a lobe of an organ. tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:03:28+00:00 peter owl:Class HP:0007486 biolink:NamedThing Cavernous hemangioma of the face tmpxe7fu0cj_hp_relaxed.owl NCIT:C3086|UMLS:C1332863 human_phenotype owl:Class HP:0033043 biolink:NamedThing Edematous chorionic villi Swelling of the chorionic villi owing to fluid accumulation. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033915 biolink:NamedThing Arcuate artery intimal mucoid edema Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining. tmpxe7fu0cj_hp_relaxed.owl 2021-06-23 23:16:39+00:00 peter owl:Class HP:0011240 biolink:NamedThing Prominent stem of antihelix Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix. tmpxe7fu0cj_hp_relaxed.owl Hyperplastic antihelix stem|Hypertrophic antihelix stem UMLS:C4020910 This finding is highly variable. The relative prominence is attributable to either increased volume of the cartilage and/or the acuteness of the folding angle. Interpretation of relative antihelical prominence may be difficult when the conchal anatomy is distorted, for example, with a cupped ear. peter 2011-12-18T11:32:08Z human_phenotype owl:Class GO:0038170 biolink:NamedThing somatostatin signaling pathway The series of molecular signals generated as a consequence of the peptide somatostatin (SST) binding to a somatostatin receptor (SSTR). The pathway proceeds with the receptor transmitting the signal to a heterotrimeric G-protein complex and ends with regulation of a downstream cellular process, e.g. transcription. tmpxe7fu0cj_hp_relaxed.owl somatostatin-mediated signaling pathway|somatostatin-activated somatostatin receptor signaling pathway|SRIF signaling pathway|somatotrophin release inhibiting factor signaling pathway|SST signaling pathway|somatostatin signalling pathway bf 2012-06-12T10:33:21Z biological_process owl:Class PATO:0002176 biolink:NamedThing deviation towards the lateral side A deviation quality inhering in a bearer by virtue of the bearer's changed direction of position towards the side. tmpxe7fu0cj_hp_relaxed.owl 2010-02-25T09:16:04Z quality owl:Class HP:0006794 biolink:NamedThing Loss of ability to walk in first decade tmpxe7fu0cj_hp_relaxed.owl Loss of ability to walk in first decade UMLS:C1846133 human_phenotype owl:Class HP:0033321 biolink:NamedThing Glomerular obsolescence Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 13:57:16+00:00 peter owl:Class HP:0001891 biolink:NamedThing Iron deficiency anemia tmpxe7fu0cj_hp_relaxed.owl Iron-deficiency anaemia|Iron deficiency anaemia|Ferropenic|Iron-deficiency anemia SNOMEDCT_US:87522002|UMLS:C0162316|MSH:D018798 human_phenotype owl:Class HP:0005974 biolink:NamedThing Episodic ketoacidosis Intermittent episodes of ketoacidosis. tmpxe7fu0cj_hp_relaxed.owl Ketoacidosis, episodic UMLS:C1859860 HP:0005983|HP:0005981 human_phenotype owl:Class NBO:0000075 biolink:NamedThing playing behavior A very broad category including the partial or complete performance of adult functional behaviors in non-functional contexts, as well as interactive behaviors peculiar to immature animals [NBO:AC] tmpxe7fu0cj_hp_relaxed.owl play 2011-04-14T01:20:02Z George Gkoutos behavior_ontology owl:Class HP:0006818 biolink:NamedThing 4-layered lissencephaly A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm. tmpxe7fu0cj_hp_relaxed.owl Type I lissencephaly|Classic lissencephaly|Lissencephaly, type I|Four-layered lissencephaly|Type 1 lissencephaly UMLS:C0431375|SNOMEDCT_US:253147000|MSH:D054221 human_phenotype owl:Class HP:0008019 biolink:NamedThing Superior lens subluxation Partial dislocation of the lens in a superior direction. tmpxe7fu0cj_hp_relaxed.owl Superior subluxated lens UMLS:C2036843 human_phenotype owl:Class HP:0012209 biolink:NamedThing Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor. tmpxe7fu0cj_hp_relaxed.owl Juvenile myelomonocytic leukaemia SNOMEDCT_US:277587001|UMLS:C0349639|MSH:D054429|SNOMEDCT_US:128832006|SNOMEDCT_US:445227008 peter 2013-03-12T12:27:41Z human_phenotype owl:Class HP:0007817 biolink:NamedThing Horizontal supranuclear gaze palsy A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024794 human_phenotype owl:Class HP:0032334 biolink:NamedThing Oligoclonal elevation of circulating IgA An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. tmpxe7fu0cj_hp_relaxed.owl 2019-02-18 14:10:26+00:00 peter owl:Class HP:0100304 biolink:NamedThing Muscle fiber intranuclear inclusion bodies The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. tmpxe7fu0cj_hp_relaxed.owl Muscle fibre intranuclear inclusion bodies UMLS:C4022156 doelkens 2010-08-10T02:39:22Z human_phenotype owl:Class HP:0011286 biolink:NamedThing Total colonic aganglionosis A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0085758|SNOMEDCT_US:253780003|SNOMEDCT_US:360441005|MSH:D006627 peter 2012-01-01T03:03:46Z human_phenotype owl:Class HP:0031002 biolink:NamedThing Neuritis Inflammation of a nerve. tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 20:14:14+00:00 peter owl:Class HP:0033971 biolink:NamedThing Interlobular vein intima/media coagulative necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. tmpxe7fu0cj_hp_relaxed.owl 2021-06-24 12:56:00+00:00 peter owl:Class UBERON:0016517 biolink:NamedThing lumen of jejunum An anatomical space that is part of a jejunum. tmpxe7fu0cj_hp_relaxed.owl jejunum lumen|jejunal lumen FMA:14590|EMAPA:18729 uberon owl:Class HP:0032242 biolink:NamedThing Cervical intraepithelial neoplasia A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer. tmpxe7fu0cj_hp_relaxed.owl 2019-01-26 19:49:11+00:00 peter owl:Class HP:0025626 biolink:NamedThing Increased circulating oleate level An abnormally high concentration of oleic acid (oleate) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 00:25:28+00:00 HPO:probinson owl:Class HP:0030795 biolink:NamedThing Reduced C-peptide level A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion. tmpxe7fu0cj_hp_relaxed.owl Reduced C peptide level UMLS:C4280764 owl:Class HP:0032157 biolink:NamedThing Recurrent genital herpes Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks. tmpxe7fu0cj_hp_relaxed.owl 2018-12-02 15:33:20+00:00 peter owl:Class HP:0005875 biolink:NamedThing Increased dermatoglyphic whorls tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025120 human_phenotype owl:Class HP:0031937 biolink:NamedThing Tachylalia Extreme rapidity of speech. tmpxe7fu0cj_hp_relaxed.owl Tachylogia 2018-07-04 21:09:19+00:00 peter owl:Class HP:0007311 biolink:NamedThing Short stepped shuffling gait tmpxe7fu0cj_hp_relaxed.owl Short stepped shuffling walk UMLS:C3805715 human_phenotype owl:Class HP:0002362 biolink:NamedThing Shuffling gait A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground. tmpxe7fu0cj_hp_relaxed.owl Shuffled walk UMLS:C0231688|SNOMEDCT_US:43005009|MSH:D020233 human_phenotype owl:Class HP:0025479 biolink:NamedThing Self-neglect Neglecting one's own needs and well-being. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 13:39:41+00:00 HPO:probinson owl:Class HP:0011468 biolink:NamedThing Facial tics Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. tmpxe7fu0cj_hp_relaxed.owl Facial spasms|Spasms of facial muscles|Myoclonus of facial muscles|Twitching of facial muscles|Muscle spasm of face|Involuntary facial muscle spasms|Mimic spasms|Facial tics|Jerking of facial muscles|Cramping of facial muscles UMLS:C0278151|UMLS:C0338467|UMLS:C4280325|SNOMEDCT_US:230335009|UMLS:C0858722|UMLS:C4280324|SNOMEDCT_US:32402008 peter 2012-03-25T07:45:47Z human_phenotype owl:Class HP:0030420 biolink:NamedThing Vulvar adenocarcinoma An adenocarcinoma arising in the vulva. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1336975 owl:Class HP:0025627 biolink:NamedThing Increased circulating octadecanoate level An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid). tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 00:28:58+00:00 HPO:probinson owl:Class HP:0033929 biolink:NamedThing Arcuate artery endoarterial neutrophil hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery. tmpxe7fu0cj_hp_relaxed.owl Endoarterial hypercellularity within arcuate artery consisting of neutrophils 2021-06-24 01:14:58+00:00 peter owl:Class HP:0003089 biolink:NamedThing Hamstring contractures tmpxe7fu0cj_hp_relaxed.owl Hamstring contractures UMLS:C0410266|SNOMEDCT_US:203074005 human_phenotype owl:Class HP:0025164 biolink:NamedThing Increased number of elastic fibers in the dermis An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods. tmpxe7fu0cj_hp_relaxed.owl Increased number of elastic fibres in the dermis 2016-12-04 13:43:21+00:00 HPO:probinson owl:Class GO:0004658 biolink:NamedThing propionyl-CoA carboxylase activity Catalysis of the reaction: ATP + propanoyl-CoA + HCO3- = ADP + phosphate + (S)-methylmalonyl-CoA. tmpxe7fu0cj_hp_relaxed.owl propionyl coenzyme A carboxylase activity|PCCase activity|propanoyl-CoA:carbon-dioxide ligase (ADP-forming) RHEA:23720|MetaCyc:PROPIONYL-COA-CARBOXY-RXN|Reactome:R-HSA-71031|EC:6.4.1.3 molecular_function owl:Class HP:0033334 biolink:NamedThing Abnormal embryonic development An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm. tmpxe7fu0cj_hp_relaxed.owl 2020-11-29 17:48:10+00:00 peter owl:Class HP:0010559 biolink:NamedThing Vertical clivus An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum). tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844702 peter 2009-10-14T09:39:04Z human_phenotype owl:Class HP:0032962 biolink:NamedThing Tubular microcystic change Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class PATO:0001649 biolink:NamedThing curved lateral A curvature quality inhering in a bearer by virtue of the bearer's being curved towards the side. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0030527 biolink:NamedThing Very severe constriction of peripheral visual field Peripheral visual field constriction with <10 degrees central field preserved. tmpxe7fu0cj_hp_relaxed.owl Very severe peripheral visual field loss UMLS:C4073004 owl:Class UBERON:0015150 biolink:NamedThing dorsal hair A strand of hair that is part of a dorsum. tmpxe7fu0cj_hp_relaxed.owl hair of back|dorsal coat hair|back hair FMA:54320 uberon owl:Class HP:0031639 biolink:NamedThing Absent left main coronary artery The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava. tmpxe7fu0cj_hp_relaxed.owl Absent LMCA 2017-12-17 12:56:17+00:00 peter owl:Class CHEBI:24163 biolink:NamedThing galactoside tmpxe7fu0cj_hp_relaxed.owl galactoside|galactosides chebi_ontology owl:Class HP:0032411 biolink:NamedThing Posterior predominant subcortical band heterotopia Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex. tmpxe7fu0cj_hp_relaxed.owl Subcortical band heterotopia posterior predominant|Occipital subcortical band heterotopia 2019-02-24 21:13:52+00:00 peter owl:Class HP:0030683 biolink:NamedThing Vaginitis Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge. tmpxe7fu0cj_hp_relaxed.owl Vulvovaginitis MSH:D014627|SNOMEDCT_US:30800001|UMLS:C0042267 The most common infectious causes of vaginitis are bacterial vaginosis, vulvovaginal candidiasis, and trichomoniasis. Physicians traditionally diagnose vaginitis using the combination of symptoms, physical examination, pH of vaginal fluid, microscopy, and the whiff test. owl:Class CL:0000357 biolink:NamedThing stratified epithelial stem cell tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0003965 biolink:NamedThing Pseudarthrosis of the forearm bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025474 human_phenotype owl:Class HP:0025250 biolink:NamedThing Closed comedo A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead. tmpxe7fu0cj_hp_relaxed.owl Whitehead 2016-12-17 13:57:50+00:00 HPO:probinson owl:Class HP:0010219 biolink:NamedThing Structural foot deformity A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023965 doelkens 2009-06-04T05:14:38Z human_phenotype owl:Class HP:0008279 biolink:NamedThing Transient hyperlipidemia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850722 human_phenotype owl:Class HP:0200067 biolink:NamedThing Recurrent spontaneous abortion Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. tmpxe7fu0cj_hp_relaxed.owl Spontaneous abortion, recurrent UMLS:C3279439 sebastiankohler 2013-05-31T01:33:01Z owl:Class HP:0025330 biolink:NamedThing Downgaze palsy A limitation of the ability to direct one's gaze below the horizontal meridian. tmpxe7fu0cj_hp_relaxed.owl Supranuclear downgaze palsy|Downgaze paresis 2017-02-11 11:41:16+00:00 HPO:probinson owl:Class HP:0003225 biolink:NamedThing Reduced coagulation factor V activity Decreased activity of coagulation factor V. tmpxe7fu0cj_hp_relaxed.owl Factor V deficiency|Reduced factor V activity MSH:D005166|UMLS:C0015499|SNOMEDCT_US:88776002|SNOMEDCT_US:4320005 Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. human_phenotype owl:Class HP:0031403 biolink:NamedThing Impaired pathogen-specific CD8 cytoxicity Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors. tmpxe7fu0cj_hp_relaxed.owl Pathogen-specific CD8 cytoxicity defect 2017-09-03 15:35:22+00:00 peter owl:Class HP:0012498 biolink:NamedThing Nuchal cord A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0405124|SNOMEDCT_US:302929008|MSH:D053589 peter 2013-11-30T08:32:27Z human_phenotype owl:Class HP:0007041 biolink:NamedThing Chronic lymphocytic meningitis Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:230154004|UMLS:C0393441 human_phenotype owl:Class HP:0000976 biolink:NamedThing Eczematoid dermatitis tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:281104002|SNOMEDCT_US:43116000|MSH:D004485|UMLS:C0013595 human_phenotype owl:Class HP:0200111 biolink:NamedThing Absent stapes head tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021888 sebastiankohler 2013-06-05T12:21:37Z human_phenotype owl:Class HP:0034085 biolink:NamedThing Anti-PM-Scl100 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 02:35:08+00:00 peter owl:Class HP:0011601 biolink:NamedThing Rightward direction of ventricular apex Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023274 peter 2012-04-08T02:46:32Z human_phenotype owl:Class HP:0005028 biolink:NamedThing Widened proximal tibial metaphyses tmpxe7fu0cj_hp_relaxed.owl Wide innermost wide portion of shinbone bone|Wide innermost wide portion of shankbone bone UMLS:C1836187 human_phenotype owl:Class HP:0005696 biolink:NamedThing Postaxial polydactyly type A Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal. tmpxe7fu0cj_hp_relaxed.owl MSH:C562429|UMLS:C3887487|SNOMEDCT_US:715704001 human_phenotype owl:Class HP:0030783 biolink:NamedThing Increased circulating interleukin 6 An increased concentration of interleukin-6 in the circulation. tmpxe7fu0cj_hp_relaxed.owl Increased serum interleukin-6|Increased serum IL-6 UMLS:C4280771 owl:Class HP:0001670 biolink:NamedThing Asymmetric septal hypertrophy Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0205700 human_phenotype owl:Class HP:0001601 biolink:NamedThing Laryngomalacia Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. tmpxe7fu0cj_hp_relaxed.owl Softening of voice box tissue MSH:D055092|SNOMEDCT_US:38086007|UMLS:C0264303 Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor. owl:Class HP:0003203 biolink:NamedThing Impaired oxidative burst In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria. tmpxe7fu0cj_hp_relaxed.owl Negative nitroblue tetrazolium reduction test|Negative NBT reduction test UMLS:C4280805 The NBT test measures the ability of neutrophils to convert nitroblue tetrazolium (NBT), to a deep blue color. This test can be abnormal in chronic granulomatous disease. human_phenotype owl:Class HP:0009756 biolink:NamedThing Popliteal pterygium A pterygium (or pterygia) occurring in the popliteal region (the back of the knee). tmpxe7fu0cj_hp_relaxed.owl UMLS:C3805420 peter 2009-01-31T08:54:18Z human_phenotype owl:Class PATO:0002093 biolink:NamedThing ballooning A volume quality inhering in a degenerating cell by virtue of the bearer's exhibiting an increase in volume associated with cytoplasmic abnormalities. tmpxe7fu0cj_hp_relaxed.owl 2009-10-05T12:01:13Z quality owl:Class HP:0025352 biolink:NamedThing Autosomal dominant germline de novo mutation Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation. tmpxe7fu0cj_hp_relaxed.owl 2017-02-13 00:19:00+00:00 HPO:probinson owl:Class PATO:0000640 biolink:NamedThing dysplastic A structural quality inhering in a bearer by virtue of the bearer's exhibiting an alteration in size, shape or organization of its constituent cells. tmpxe7fu0cj_hp_relaxed.owl dysplasia quality owl:Class HP:0430025 biolink:NamedThing Bilateral facial palsy Two-sided or bilateral weakness of the muscles of facial expression and eye closure. tmpxe7fu0cj_hp_relaxed.owl Bilateral facial paralysis|Bilateral facial muscle paralysis|Bilateral facial muscle weakness|Weakness of both sides of the face|Paralysis of both sides of the face UMLS:C4073207 owl:Class HP:0006367 biolink:NamedThing Crumpled long bones An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. tmpxe7fu0cj_hp_relaxed.owl Crumpled long bones UMLS:C1970497 human_phenotype owl:Class HP:0020170 biolink:NamedThing Increased blood drug concentration High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. tmpxe7fu0cj_hp_relaxed.owl Increased serum drug concentration|Elevated serum drug concentrations|Elevated blood drug concentration|Elevated plasma drug concentration|Increased plasma drug concentration robinp 2019-07-06 21:41:53+00:00 owl:Class HP:0012175 biolink:NamedThing Resistance to activated protein C Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay. tmpxe7fu0cj_hp_relaxed.owl Activated protein C resistance SNOMEDCT_US:421527008|MSH:D020016|UMLS:C0600433 The protein C pathway is a major anticoagulant mechanism that down-regulates the prothrombin- and intrinsic factor X (FX)-activating complexes via inactivation of their respective cofactors, activated factors V (FVa) and VIII (FVIIIa). Cofactor inactivation occurs by limited proteolysis at certain amino acid positions in FVa and in FVIIIa. These reactions are catalyzed by the serine protease activated protein C (APC) and stimulated by the APC cofactor protein S. Functional defects of the protein C pathway determine a plasma phenotype known as APC resistance, which is a prevalent and important risk factor for venous thrombosis. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time (aPTT) assay. peter 2013-02-23T09:54:07Z human_phenotype owl:Class HP:0031385 biolink:NamedThing Megakaryocyte nucleus hypolobulation The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 16:33:22+00:00 Megakaryocytes with a hypolobulated nucleus can be seen in normal bone marrow but numbers are increased in some patients with myelodysplastic syndrome. peter owl:Class HP:0031542 biolink:NamedThing Myelin-like whorls in vacuolated fibers Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner. tmpxe7fu0cj_hp_relaxed.owl Myelin-like whorls in vacuolated fibres 2017-09-24 01:38:55+00:00 peter owl:Class HP:0002131 biolink:NamedThing Episodic ataxia Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. tmpxe7fu0cj_hp_relaxed.owl Paroxysmal ataxia|Intermittent cerebellar ataxia UMLS:C1720189|MSH:C580065|SNOMEDCT_US:421455009 HP:0007214|HP:0006862|HP:0007152 owl:Class HP:0033964 biolink:NamedThing Interlobular intima/media venosclerosis Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney. tmpxe7fu0cj_hp_relaxed.owl Venosclerosis within interlobular vein intima/media 2021-06-24 12:46:18+00:00 peter owl:Class HP:0100607 biolink:NamedThing Dysmenorrhea Pain during menstruation that interferes with daily activities. tmpxe7fu0cj_hp_relaxed.owl Painful menstruation UMLS:C0013390|SNOMEDCT_US:289900009|MSH:D004412|SNOMEDCT_US:431416001|SNOMEDCT_US:266599000 doelkens 2010-12-27T06:13:30Z human_phenotype owl:Class HP:0032057 biolink:NamedThing Focal cortical dysplasia type IIIc A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis). tmpxe7fu0cj_hp_relaxed.owl 2018-09-16 11:23:39+00:00 peter owl:Class HP:0003001 biolink:NamedThing Glomus jugular tumor tmpxe7fu0cj_hp_relaxed.owl Glomus jugulare tumors|Glomus jugulare tumour|Glomus jugular tumour|Glomus jugulare tumor|Glomus jugulare tumours SNOMEDCT_US:32037004|SNOMEDCT_US:127030001|UMLS:C0017671|MSH:D005925 human_phenotype owl:Class UBERON:0004601 biolink:NamedThing rib 1 The first rib of the rib cage. tmpxe7fu0cj_hp_relaxed.owl costa I|costa prima (I)|first rib|costa prima|costa prima [I] EMAPA:19529|UMLS:C1709945|FMA:7597|MA:0001401|NCIT:C52770 elements are to be defined spatially/topologically http://upload.wikimedia.org/wikipedia/commons/f/fa/Gray124.png uberon owl:Class 1 HP:0011886 biolink:NamedThing Hyphema Bleeding in the anterior chamber of the eye. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:75229002|MSH:D006988|UMLS:C0020581 peter 2012-06-02T10:49:36Z human_phenotype owl:Class HP:0011507 biolink:NamedThing Macular flecks Pale often indistinct lesions of the macula. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023322 peter 2012-04-06T09:38:42Z human_phenotype owl:Class HP:0100792 biolink:NamedThing Acantholysis The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. tmpxe7fu0cj_hp_relaxed.owl Nikolsky's sign UMLS:C0000887|SNOMEDCT_US:43327007|MSH:D000051|SNOMEDCT_US:441837004|UMLS:C0241128 Acantolysis results in a positive Nikolsky's sign in which slight rubbing of the skin results in exfoliation of the outermost layer. doelkens 2011-06-08T03:22:24Z owl:Class HP:0006251 biolink:NamedThing Limited wrist extension tmpxe7fu0cj_hp_relaxed.owl UMLS:C1862481 human_phenotype owl:Class HP:0010455 biolink:NamedThing Steep acetabular roof An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3150931 peter 2009-09-14T11:18:20Z human_phenotype owl:Class HP:0031316 biolink:NamedThing Abnormal ventricular myocardium morphology A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 11:43:31+00:00 peter owl:Class HP:0008112 biolink:NamedThing Plantar flexion contractures tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861239 human_phenotype owl:Class HP:0031425 biolink:NamedThing Increased circulating beta-C-terminal telopeptide level A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased circulating beta-CrossLaps level|Increased circulating beta-CTx level 2017-09-16 11:22:41+00:00 peter owl:Class HP:0000590 biolink:NamedThing Progressive external ophthalmoplegia Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades. tmpxe7fu0cj_hp_relaxed.owl External ophthalmoplegia, progressive UMLS:C0162674|SNOMEDCT_US:46252003|MSH:D017246 Progressive external ophthalmoplegia (PEO) can be regarded as a diagnosis, or as a feature of several other syndromes. The latter is the meaning of this term. HP:0000562 human_phenotype owl:Class HP:0010873 biolink:NamedThing Cervical spinal cord atrophy Atrophy of the cervical segment of the spinal cord. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0742191 peter 2010-08-25T03:41:38Z human_phenotype owl:Class HP:0032614 biolink:NamedThing Renal glomerular amyloid deposition Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0004464 biolink:NamedThing Postauricular pit Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit. tmpxe7fu0cj_hp_relaxed.owl Posterior auricular pit|Postauricular fistula|Postauricular earpits|Posterior auricular sinus|Pit behind the ear SNOMEDCT_US:43887004|UMLS:C0395905 human_phenotype owl:Class HP:0007522 biolink:NamedThing Increased number of skin folds tmpxe7fu0cj_hp_relaxed.owl Increased number of skin folds UMLS:C4024853 human_phenotype owl:Class HP:0025219 biolink:NamedThing Triggered by vaccination Applies to a sign or symptom that is provoked or brought about by a vaccination. tmpxe7fu0cj_hp_relaxed.owl Vaccination triggered symptoms|Triggered by vaccination|Triggered by immunization|Triggered by immunisation 2016-12-10 14:04:16+00:00 HPO:probinson owl:Class HP:0031271 biolink:NamedThing Absent ankle pulse The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 20:39:39+00:00 While examining the pulse, the observer should note its intensity, rate, rhythm, and if any blood vessel tenderness, tortuosity, or nodularity exists. peter owl:Class HP:0032554 biolink:NamedThing Absent pulse The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination. tmpxe7fu0cj_hp_relaxed.owl 2019-06-14 10:48:40+00:00 peter owl:Class HP:0031607 biolink:NamedThing Pelvic organ prolapse Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position. tmpxe7fu0cj_hp_relaxed.owl 2017-12-09 14:09:47+00:00 peter owl:Class HP:0033101 biolink:NamedThing Elevated urine aconitic acid level An abnormally increased level of aconitic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0030159 biolink:NamedThing Cervical polyp Abnormal growth of tissue projecting from a mucous membrane of the endocervix. tmpxe7fu0cj_hp_relaxed.owl Cervical tumor|Cervical tumour UMLS:C0007855|SNOMEDCT_US:65576009|UMLS:C0007873|MSH:D002583|SNOMEDCT_US:123841004 owl:Class HP:0033946 biolink:NamedThing Arcuate vein intima/media crystal accumulation Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney. tmpxe7fu0cj_hp_relaxed.owl 2021-06-24 01:57:38+00:00 peter owl:Class HP:0003683 biolink:NamedThing Large beaked nose tmpxe7fu0cj_hp_relaxed.owl Large beaked nose UMLS:C4025579 human_phenotype owl:Class MPATH:68 biolink:NamedThing diverticulum A blind ended outpouching through the wall of a tubular organ or bounded cavity. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0005117 biolink:NamedThing Elevated diastolic blood pressure Abnormal increase in diastolic blood pressure. tmpxe7fu0cj_hp_relaxed.owl Elevated diastolic BP UMLS:C1840375 Normal diastolic blood pressure is less than 80 mmHg. peter 2008-03-25T06:43:00Z human_phenotype owl:Class PATO:0001449 biolink:NamedThing cartilaginous A composition quality inhering in an bearer by virtue of the bearer's cartilage quantities. tmpxe7fu0cj_hp_relaxed.owl Cartilage is a type of dense connective tissue. It is composed of specialized cells called chondrocytes (CL:0000138) that produce a large amount of extracellular matrix composed of collagen fibers, abundant ground substance rich in proteoglycan, and elastin fibers. quality owl:Class HP:0030474 biolink:NamedThing Undetectable dark-adapted electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072964 owl:Class HP:0031763 biolink:NamedThing Cyclic esotropia Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:47:29+00:00 peter owl:Class HP:0008718 biolink:NamedThing Unilateral renal dysplasia A unilateral form of developmental dysplasia of the kidney. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0431697|SNOMEDCT_US:204951002 human_phenotype owl:Class HP:0033177 biolink:NamedThing Elevated circulating suberic acid concentration An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. tmpxe7fu0cj_hp_relaxed.owl 2020-09-25 12:49:42+00:00 peter owl:Class HP:0020160 biolink:NamedThing GM1-ganglioside accumulation Cellular accumulation of GM1 gangliosides. tmpxe7fu0cj_hp_relaxed.owl At the neuropathological level, severe infantile GM1-gangliosidosis patients exhibit distended neurons that contain typical lamellar inclusions referred to as membranous cytoplasmic bodies which are also found in other lipidoses. Although neurons are the primary target for storage, astrocytes may also appear abnormally vacuolated. Neuronal pathology in late onset forms is delayed and tends to be more severe in deeper structures of the brain than in the cortex. Inclusions in the liver are of fibrillar nature and are different from the lamellar bodies in neurons. Abnormal accumulation of GM1-ganglioside and, to a much lesser extent, its asialo-derivative GA1, in the brain is the most prominent biochemical feature. robinp 2019-07-06 19:48:26+00:00 owl:Class HP:0033343 biolink:NamedThing Mucoid diarrhea Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes. tmpxe7fu0cj_hp_relaxed.owl Mucous diarrhea|Mucous diarrhoea 2020-11-30 14:20:47+00:00 peter owl:Class HP:0030452 biolink:NamedThing Chylolymphatic mesenteric cyst A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072944 owl:Class HP:0031832 biolink:NamedThing Hypermetric downward saccades Overshoot of downward saccadic eye movements. tmpxe7fu0cj_hp_relaxed.owl 2018-05-04 02:38:07+00:00 peter owl:Class HP:0033375 biolink:NamedThing Anthracosis Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers. tmpxe7fu0cj_hp_relaxed.owl 2020-12-23 12:44:15+00:00 See Figure 15.11 in PMCID:PMC7262960. peter owl:Class HP:0031882 biolink:NamedThing Agyria A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm. tmpxe7fu0cj_hp_relaxed.owl Agyria diffuse 2018-05-06 16:11:19+00:00 peter owl:Class HP:0011344 biolink:NamedThing Severe global developmental delay A severe delay in the achievement of motor or mental milestones in the domains of development of a child. tmpxe7fu0cj_hp_relaxed.owl Severe psychomotor retardation|Global developmental delay, severe UMLS:C1837397|UMLS:C1854919 peter 2012-02-29T11:20:45Z human_phenotype owl:Class HP:0003916 biolink:NamedThing Normal-density transverse humeral bands tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025511 Normal-density transverse bands of the humerus human_phenotype owl:Class HP:0007609 biolink:NamedThing Hypoproteinemic edema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia). tmpxe7fu0cj_hp_relaxed.owl Hypoproteinemic oedema UMLS:C4024832 human_phenotype owl:Class HP:0031472 biolink:NamedThing Risk taking Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 16:44:22+00:00 peter owl:Class HP:0005892 biolink:NamedThing Proximal tibial and fibular fusion tmpxe7fu0cj_hp_relaxed.owl Fusion of innermost shinbone and calf bone UMLS:C4025113 human_phenotype owl:Class HP:0007035 biolink:NamedThing Anterior encephalocele tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024948 human_phenotype owl:Class HP:0008148 biolink:NamedThing Impaired epinephrine-induced platelet aggregation Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024727 human_phenotype owl:Class HP:0005181 biolink:NamedThing Premature coronary artery atherosclerosis Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. tmpxe7fu0cj_hp_relaxed.owl Premature coronary artery disease UMLS:C1867743 human_phenotype owl:Class UBERON:0003380 biolink:NamedThing cardiac muscle of left atrium A portion of cardiac muscle tissue that is part of a left atrium [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl textus muscularis of myocardium of left atrium of heart|textus muscularis of myocardium of heart left atrium|textus muscularis of myocardium of left cardiac atrium|left atrium heart muscle|cardiac muscle of heart left atrium|cardiac muscle of left atrium of heart|cardiac left atrium cardiac muscle|textus muscularis of myocardium of cardiac left atrium|cardiac muscle of cardiac left atrium|textus muscularis of myocardium of left atrium|left atrium myocardium|cardiac left atrium cardiac muscle tissue|myocardium of left atrium SCTID:189936008|EHDAA2:0004154|FMA:7285|VHOG:0001225|EMAPA:17320 uberon owl:Class HP:0031418 biolink:NamedThing Increased body mass index Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages. tmpxe7fu0cj_hp_relaxed.owl Increased BMI 2017-09-12 02:12:54+00:00 peter owl:Class HP:0033229 biolink:NamedThing Brachioradialis areflexia Inability to elicit brachioradialis tendon reflex. tmpxe7fu0cj_hp_relaxed.owl Areflexia of brachioradialis 2020-10-30 11:16:48+00:00 peter owl:Class HP:0032019 biolink:NamedThing Muscle eosinophilia Eosinophil infiltration of skeletal muscle. tmpxe7fu0cj_hp_relaxed.owl Eosinophilic infiltration of skeletal muscle 2018-08-25 15:42:46+00:00 This phenotype can be measured by determining the number and location of eosinophils in skeletal muscle biopsies by Giemsa and modified hematoxylin/eosin staining. However, infiltrating eosinophils are not always identified in conventional muscle histologic examination, but the eosinophil major basic protein, whose extracellular diffusion is considered a hallmark of eosinophilic cytotoxicity, is usually detected by immunostaining in muscle biopsy. peter owl:Class HP:0006706 biolink:NamedThing Cystic liver disease tmpxe7fu0cj_hp_relaxed.owl UMLS:C0158683|MSH:C536330|SNOMEDCT_US:72925005 peter 2008-03-29T03:37:00Z owl:Class HP:0033139 biolink:NamedThing Elevated circulating uracil concentration Concentration of uracil in the blood is above the normal range. tmpxe7fu0cj_hp_relaxed.owl 2020-09-09 13:56:10+00:00 peter owl:Class HP:0033440 biolink:NamedThing Elevated circulating octenoylcarnitine concentration Increased concentration of octenoylcarnitine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated plasma octenoylcarnitine, C8:1|Elevated circulating O-octenoylcarnitine concentration 2021-01-09 18:42:59+00:00 peter owl:Class HP:0011352 biolink:NamedThing Severe receptive language delay A severe delay in the acquisition of the ability to understand the speech of others. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3532947|SNOMEDCT_US:89391000119105 peter 2012-03-01T10:53:30Z owl:Class HP:0006352 biolink:NamedThing Failure of eruption of permanent teeth Lack of tooth eruption of the secondary dentition. tmpxe7fu0cj_hp_relaxed.owl Unerupted permanent teeth|Unerupted permanent dentition|Unerupted adult teeth|Unerupted adult dentition|Failure of eruption of adult teeth UMLS:C4280447|UMLS:C4025056 HP:0006309 human_phenotype owl:Class HP:0011677 biolink:NamedThing Tetralogy of Fallot with atrioventricular canal defect tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023235 peter 2012-04-10T07:41:53Z human_phenotype owl:Class HP:0000012 biolink:NamedThing Urinary urgency Urge incontinence is the strong, sudden need to urinate. tmpxe7fu0cj_hp_relaxed.owl Overactive bladder|Urgency frequency syndrome|Urinary urgency|Overactive bladder syndrome UMLS:C0085606|SNOMEDCT_US:75088002|UMLS:C3544092|UMLS:C4020898 Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity. owl:Class HP:0032490 biolink:NamedThing Decreased fecal pH Abnormally low fecal pH, i.e., abnormal acidity of feces. tmpxe7fu0cj_hp_relaxed.owl Decreased faecal pH 2019-04-11 11:46:07+00:00 peter owl:Class HP:0012543 biolink:NamedThing Hemosiderinuria The presence of hemosiderin in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2721579 Hemosiderinuria leads to a brown color of urine. It is a marker of chronic intravascular hemolysis, in which hemoglobin is released from RBCs into the bloodstream in excess of the binding capacity of haptoglobin. peter 2013-12-21T09:09:38Z owl:Class HP:0032386 biolink:NamedThing Elevated circulating transferrin concentration An abnormally increased concentration of transferrin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated transferrin level 2019-02-24 15:34:30+00:00 peter owl:Class HP:0007583 biolink:NamedThing Telangiectasia macularis eruptiva perstans tmpxe7fu0cj_hp_relaxed.owl UMLS:C0263402|SNOMEDCT_US:8214000 human_phenotype owl:Class HP:0031388 biolink:NamedThing Megakaryocyte nucleus hyperlobulation The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 16:40:09+00:00 A large megakaryocyte with a hyperlobulated nucleus is a cell that is larger than average size and has more nuclear lobulation than average. Some such megakaryocytes are seen in normal bone marrows but when they are present as an increased proportion they should be commented on. Increased numbers are seen sometimes in myelodysplastic syndrome but they are more frequent in myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and in MPN, particularly essential thrombocythemia. peter owl:Class HP:0025632 biolink:NamedThing Reduced reactive oxygen species production in neutrophils An abnormal reduction in the amount of reactive oxygen produced by neutrophils in the respiratory burst. tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 01:36:43+00:00 Polymorphonuclear neutrophils comprise more than 60% ofthe circulating white blood cells in humans. They have a central role in innate immunity and they regulate adaptive immunity. In healthy individuals, circulating neutrophils are freely flowing in a resting, dormant state. Upon infection, neutrophils are the first circulating cells to arrive at the infection and inflammatory site. Phagocytosis triggers the activation program of the neutrophils, leading to the intraphagosomal release of antibacterial peptides, proteases, myeloperoxidase, and superoxide anion (O2-), which is produced via the activation of the NADPH oxidase. Superoxide anion is the initiating spark leading to the generation of reactive oxygen species (ROS), i.e., hydrogen peroxide (H2O2), hydroxylradical and hypochlorous acid (HOCl), all contributing to the death and destruction of the bacteria within the phagosome. ROS production by the phagocytes was first referred as the respiratory burst or oxidative burst due to the rapid and cyanide-insensitive increase in oxygen uptake, increase in glucose consumption, andimmediate ROS release. The enzyme system dedicated to superoxide anion production, i.e., the phagocyte NADPH oxidase, a member of the NOX family of proteins also referred as NOX2, is composed of six proteins, two trans-membrane proteins (p22phox and gp91phox) that form theflavocytochrome b558, and four soluble proteins (p47phox,p67phox, and p40phox and the small G-proteins, Rac1/2). HPO:probinson owl:Class HP:0430024 biolink:NamedThing Abnormality of external jugular vein An abnormality of an external jugular vein of the neck. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073206 owl:Class HP:0002548 biolink:NamedThing Parkinsonism with favorable response to dopaminergic medication Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication. tmpxe7fu0cj_hp_relaxed.owl Favorable response to levodopa|Parkinsonism with favourable response to dopaminergic medication|Favourable response to levodopa UMLS:C1846868 human_phenotype owl:Class HP:0033788 biolink:NamedThing Cementum overgrowth Excess of cementum on the tooth root surface. tmpxe7fu0cj_hp_relaxed.owl Cementum overdeveloped|Cementation hyperplasia|Cementum hypertrophy|Hypercementosis|Drumstick-shaped root 2021-05-07 11:08:51+00:00 The excessive buildup of normal cementum (calcified tissue) on the roots of one or more teeth is an idiopathic, non-neoplastic condition. Cementum overgrowth may be either hyperplasia or hypertrophy of the cement; these terms can only be used if histological evidence of hypertrophy or hyperplasia have been established. peter owl:Class HP:0004961 biolink:NamedThing Pulmonary artery sling An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856123 human_phenotype owl:Class HP:0100309 biolink:NamedThing Subdural hemorrhage Hemorrhage occurring between the dura mater and the arachnoid mater. tmpxe7fu0cj_hp_relaxed.owl Subdural hematoma|Subdural haematoma|Subdural haemorrhage MSH:D006408|UMLS:C0018946|SNOMEDCT_US:35486000|SNOMEDCT_US:95453001 Usually resulting from tears in veins that cross the subdural space, subdural hemorrhage may cause an increase in intracranial pressure, which can cause compression of and damage to delicate brain tissue. Subdural hematomas are often life-threatening when acute, but chronic subdural hematomas are usually not deadly if treated. doelkens 2010-08-10T03:01:08Z owl:Class HP:0033438 biolink:NamedThing Elevated circulating myoglobin concentration An increased blood concentration of myoglobin. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 18:30:13+00:00 peter owl:Class HP:0006510 biolink:NamedThing Chronic pulmonary obstruction An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities. tmpxe7fu0cj_hp_relaxed.owl Chronic obstructive pulmonary disease|COPD MSH:D029424|UMLS:C0024117|SNOMEDCT_US:13645005 COPD is usually conceptualized as a disease entity. It is heterogeneous histologically and pathogenically, and conventionally includes emphysema and chronic bronchitis, It is included as a phenotype term as COPD is often annotated as a feature of other diseases. HP:0006541 owl:Class HP:0100628 biolink:NamedThing Esophageal diverticulum The presence of a diverticulum of the esophagus. tmpxe7fu0cj_hp_relaxed.owl Esophageal pouch SNOMEDCT_US:204667006|SNOMEDCT_US:414133009|MSH:D004936|UMLS:C0014854 A diverticulum is a blind ended outpouching through the wall of a tubular organ or bounded cavity. doelkens 2010-12-29T02:22:08Z human_phenotype owl:Class HP:0005802 biolink:NamedThing Coalescence of tarsal bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025130 human_phenotype owl:Class HP:0033867 biolink:NamedThing Multilamellation of medullary peritubular capillary basement membranes Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers. tmpxe7fu0cj_hp_relaxed.owl Multilamellation of basement membranes within medullary peritubular capillaries 2021-06-23 19:02:46+00:00 peter owl:Class HP:0006932 biolink:NamedThing Transient psychotic episodes tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024958 human_phenotype owl:Class HP:0040175 biolink:NamedThing Platelet-activating factor acetylhydrolase deficiency Reduced level of platelet-activating factor acetylhydrolase. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3280315|MSH:C566640 owl:Class UBERON:0006647 biolink:NamedThing adventitia of ductus deferens An adventitia that is part of a vas deferens. tmpxe7fu0cj_hp_relaxed.owl adventitia of ductus deferens|adventitia of vas deferens|tunica adventitia ductus deferentis|deferent ductal adventitia|adventitia of deferent duct|tunica adventitia (ductus deferens) EMAPA:29767|FMA:19238 uberon owl:Class HP:0004535 biolink:NamedThing Anterior cervical hypertrichosis Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence. tmpxe7fu0cj_hp_relaxed.owl Hypertrichosis, congenital anterior cervical|Congenital cervical hypertrichosis UMLS:C1838123|MSH:C538390 HP:0004773|HP:0004517 human_phenotype owl:Class HP:0032589 biolink:NamedThing Renal lymphocytic tubulitis Infiltration of the renal tubular epithelium by lymphocytes. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0012625 biolink:NamedThing Stage 3 chronic kidney disease A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). tmpxe7fu0cj_hp_relaxed.owl UMLS:C2316787|SNOMEDCT_US:433144002 peter 2014-01-17T01:22:43Z human_phenotype owl:Class HP:0031907 biolink:NamedThing Anti-mitochondrial M2 antibody positivity The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum. tmpxe7fu0cj_hp_relaxed.owl Anti-pyruvate dehydrogenase antibody positivity|AMA-M2 positive 2018-05-19 15:34:03+00:00 Anti-mitochondrial antibody (AMA) can be tested via indirect immunofluorescence. AMAs are biomarkers of primary biliary cirrhosis (PBC) and can also be found in patients with idiopathic inflammatory myopathies. The auto-antigens of AMA have been identified as pyruvate dehydrogenase complex-E2 (PDC-E2), branched-chain 2-oxo acid dehydrogenase complex and 2-oxoglutaric acid dehydrogenase complex. The antibody to these antigens is known as AMA-M2. AMA-M2 is more specific to PBC than AMA, and the determination of its titer is feasible peter owl:Class HP:0012671 biolink:NamedThing Abulia Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency. tmpxe7fu0cj_hp_relaxed.owl Aboulia UMLS:C0919974 Abulia is less severe thana kinetic mutism, and more so than apathy. peter 2014-02-27T10:48:32Z human_phenotype owl:Class HP:0020142 biolink:NamedThing Blood pressure substantially higher in arms than legs An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. tmpxe7fu0cj_hp_relaxed.owl Increased arm-leg blood pressure gradient|Blood pressure substantially higher in upper than lower extremities This feature can be observed in aortic coarctation. robinp 2019-07-05 17:56:44+00:00 owl:Class HP:0032454 biolink:NamedThing Labial melanotic macule Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture. tmpxe7fu0cj_hp_relaxed.owl Labial melanotic freckle 2019-03-08 11:08:58+00:00 peter owl:Class HP:0033699 biolink:NamedThing Polymorphic vesicular eruption A type of vesicular eruption in which the vesicles are at different stages. tmpxe7fu0cj_hp_relaxed.owl 2021-03-07 23:09:26+00:00 This feature can be seen in many diseases including chickenpox. peter owl:Class CHEBI:81568 biolink:NamedThing Luteinizing hormone tmpxe7fu0cj_hp_relaxed.owl Interstitial cell stimulating hormone|ICSH|LH KEGG:C18183|CAS:9002-67-9 chebi_ontology owl:Class HP:0030921 biolink:NamedThing 5-minute APGAR score of 1 tmpxe7fu0cj_hp_relaxed.owl 2016-11-07 18:14:24+00:00 robinp owl:Class HP:0006012 biolink:NamedThing Widened metacarpal shaft tmpxe7fu0cj_hp_relaxed.owl Broad shaft of long bone of hand UMLS:C1850159 human_phenotype owl:Class HP:0033481 biolink:NamedThing Limited lateral neck flexion Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 23:05:12+00:00 peter owl:Class HP:0033957 biolink:NamedThing Cortical radial artery neutrophil hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries. tmpxe7fu0cj_hp_relaxed.owl Endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils 2021-06-24 12:30:32+00:00 peter owl:Class HP:0008416 biolink:NamedThing Six lumbar vertebrae tmpxe7fu0cj_hp_relaxed.owl UMLS:C1839279 human_phenotype owl:Class HP:0000497 biolink:NamedThing Globe retraction and deviation on abduction tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025848 human_phenotype owl:Class HP:0001895 biolink:NamedThing Normochromic anemia tmpxe7fu0cj_hp_relaxed.owl Normochromic anaemia UMLS:C0235983 human_phenotype owl:Class HP:0500051 biolink:NamedThing Retinopathy of prematurity stage 2 The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous. tmpxe7fu0cj_hp_relaxed.owl ROP stage 2 2018-02-19 18:30:02+00:00 ORCID:0000-0001-7941-2961 owl:Class CL:0000817 biolink:NamedThing precursor B cell A precursor B cell is a B cell with the phenotype CD10-positive. tmpxe7fu0cj_hp_relaxed.owl pre-B cell CALOHA:TS-0819|BTO:0001133 cell owl:Class HP:0500108 biolink:NamedThing Positive urine cocaine test Detection of cocaine or its major metabolite, benzoylecgonine, in urine. tmpxe7fu0cj_hp_relaxed.owl 2018-06-25 15:07:40+00:00 Cocaine is an illicit stimulant that has a high potential for abuse and addiction. owl:Class HP:0025296 biolink:NamedThing Morbilliform Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent. tmpxe7fu0cj_hp_relaxed.owl 2016-12-18 16:20:14+00:00 HPO:probinson owl:Class HP:0030286 biolink:NamedThing Atrophic superior cerebellar peduncle Atrophy of the superior cerebellar peduncle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022535 owl:Class HP:0100602 biolink:NamedThing Preeclampsia Pregnancy-induced hypertension in association with significant amounts of protein in the urine. tmpxe7fu0cj_hp_relaxed.owl Pre-eclampsia UMLS:C0032914|MSH:D011225|SNOMEDCT_US:15394000|SNOMEDCT_US:398254007 doelkens 2010-12-27T05:26:57Z human_phenotype owl:Class HP:0030404 biolink:NamedThing Glucagonoma An endocrine tumor of the pancreas that secretes excessive amounts of glucagon. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:302823005|UMLS:C0017689|SNOMEDCT_US:128855009|SNOMEDCT_US:16424000|MSH:D005935 The excessive glucagon secreted by a glucagonoma may lead to dermatitis (migratory necrolytic erythema), glucose intolerance, weight loss, anemia, diarrhea, and thromboembolism. owl:Class HP:0009914 biolink:NamedThing Cyclopia Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose. tmpxe7fu0cj_hp_relaxed.owl Cyclops eye|Single central eye UMLS:C0266667|MSH:C562573|SNOMEDCT_US:205798005 peter 2009-05-01T03:52:15Z human_phenotype owl:Class HP:0025351 biolink:NamedThing Recurrent interdigital mycosis A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers. tmpxe7fu0cj_hp_relaxed.owl Recurrent interdigital tinea 2017-02-13 00:11:13+00:00 HPO:probinson owl:Class HP:0011326 biolink:NamedThing Anterior plagiocephaly Asymmetry of the anterior part of the skull. tmpxe7fu0cj_hp_relaxed.owl Deformational anterior plagiocephaly|Frontal plagiocephaly|Positional frontal plagiocephaly|Deformational frontal plagiocephaly|Coronal synostosis|Positional anterior plagiocephaly|Unicoronal craniosynostosis|Anterior flat head syndrome UMLS:C4023413|UMLS:C4280330|UMLS:C4280329|UMLS:C0432124|SNOMEDCT_US:254020001|UMLS:C4280328 Anterior plagiocephaly may have synostotic or non-synostotic causes. peter 2012-02-25T02:10:41Z human_phenotype owl:Class HP:0005376 biolink:NamedThing Recurrent Haemophilus influenzae infections Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae. tmpxe7fu0cj_hp_relaxed.owl Recurrent H. influenzae infections UMLS:C4025204 human_phenotype owl:Class HP:0012079 biolink:NamedThing Abnormality of central motor conduction Any anomaly of the conduction of motor nerve impulses in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023055 Nerve conduction velocity in the central motor pathways of the brain and spinal cord can be studied by methods including transcutaneous electrical stimulation of the cortex, cervical cord, thoracic cord and conus medullaris and determination of motor latencies to various muscles. This measure is thought to represent conduction in large diameter fibres in the corticospinal tracts. peter 2012-08-18T04:41:05Z owl:Class HP:0005389 biolink:NamedThing Depletion of components of the alternative complement pathway An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969220 human_phenotype owl:Class HP:0006631 biolink:NamedThing Hypoplastic distal segments of scapulae tmpxe7fu0cj_hp_relaxed.owl Underdeveloped outermost segments of shoulder blade|Small outermost segments of shoulder blade|Small distal segments of the shoulder blade UMLS:C4025014 human_phenotype owl:Class HP:0030587 biolink:NamedThing Abnormal Hardy-Rand-Rittler plate test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073060 owl:Class HP:0030411 biolink:NamedThing Jejunal adenocarcinoma A malignant epithelial tumor with a glandular organization that originates in the jejunum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072935|NCIT:C2852 human_phenotype owl:Class HP:0030562 biolink:NamedThing Best corrected visual acuity 0.9 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073035 owl:Class HP:0003880 biolink:NamedThing Sclerotic foci of the humerus tmpxe7fu0cj_hp_relaxed.owl Humeral sclerotic foci UMLS:C4021717 human_phenotype owl:Class HP:0030147 biolink:NamedThing Truncal titubation Tremor of the trunk in an anterior-posterior plane at 3-4 Hz. tmpxe7fu0cj_hp_relaxed.owl UMLS:C2674512 owl:Class HP:0033534 biolink:NamedThing Increased circulating brain natriuretic peptide concentration An increased concentration of brain natriuretic peptide in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased B-type natriuretic peptide|Elevated circulating BNP concentration|Increased ventricular natriuretic peptide 2021-01-15 12:59:46+00:00 BNP is a hormone secreted by ventricular cardiomyocytes in response to stretching caused by increased ventricular blood volume. BNP is synthesised as a prohormone (proBNP) comprising 108 amino acids. After the release into the circulation proBNP is cleaved in equimolar amounts into the biologically active BNP (32 amino acid), and the biologically inactive 76 amino acid N-terminal fragment (NT-proBNP). BNP has a number of physiological effects including natriuresis and diuresis, peripheral vasodilation, inhibition of renin angiotensin aldosterone system (RAAS) and the sympathetic nervous system (SNS). peter owl:Class CL:0000157 biolink:NamedThing surfactant secreting cell A cell that specializes in secretion of surfactant in the alveoli of the lung. tmpxe7fu0cj_hp_relaxed.owl cell owl:Class HP:0032491 biolink:NamedThing Increased circulating argininosuccinic acid An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-04-11 12:01:22+00:00 Argininosuccinic acid is an intermediate in the urea cycle. peter owl:Class HP:0011189 biolink:NamedThing Bilateral multifocal epileptiform discharges Epileptiform discharges being identified at multiple locations in both hemispheres. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023485 hecht 2011-11-19T10:47:23Z human_phenotype owl:Class HP:0400001 biolink:NamedThing Chin with vertical crease Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest. tmpxe7fu0cj_hp_relaxed.owl Chin with vertical groove|Vertical chin skin cleft|Chin with vertical sulcus|Chin with vertical furrow|Cleft chin|Vertical menton crease|Chin with vertical crease|Chin, vertical crease UMLS:C4020916 The vertical shape must be distinguished from H-shaped crease of the chin. owl:Class HP:0004433 biolink:NamedThing Secretory IgA deficiency Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0398709|MSH:C562869|SNOMEDCT_US:234554004 peter 2008-03-18T09:48:00Z human_phenotype owl:Class HP:0033462 biolink:NamedThing Elevated circulating oleylcarnitine concentration Increased concentration of oleylcarnitine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated plasma oleylcarnitine, C18:1 2021-01-09 22:27:17+00:00 peter owl:Class HP:0012412 biolink:NamedThing Premature adrenarche Onset of adrenarche at an earlier age than usual. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:103021001|UMLS:C0342546 Adrenarche is an early sexual maturation stage that typically occurs at around 6 to 8 years of age, during which the adrenal cortex begins to secrete increased levels of androgens resulting from the development of the zona reticularis in the adrenal cortex. Note that pubarche refers to the development of pubic hair, axillary hair, and adult sweat gland (apocrine) odor. The physical features associated with pubarche reflect the onset of adrenarche, which refers to the pubertal maturation of the adrenal and is associated with increased secretion of an adrenal hormone called dehydroepiandrosterone sulfate (DHEAS). peter 2013-11-10T11:58:02Z human_phenotype owl:Class HP:0025388 biolink:NamedThing Thyroid nodule A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl 2017-04-22 11:06:53+00:00 The vast majority of thyroid nodules are benign (noncancerous), but a small proportion of thyroid nodules do contain thyroid cancer. HPO:probinson owl:Class HP:0031791 biolink:NamedThing Lenticular astigmatism A type of astigmatism related to an irregular shape of the lens. tmpxe7fu0cj_hp_relaxed.owl 2018-01-28 13:40:22+00:00 peter owl:Class HP:0011608 biolink:NamedThing Type II truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus. tmpxe7fu0cj_hp_relaxed.owl Persistent truncus arteriosus type II|Type 2 truncus arteriosus UMLS:C4021137|Fyler:520|Fyler:0520 According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. peter 2012-04-08T03:03:51Z human_phenotype owl:Class HP:0005008 biolink:NamedThing Large joint dislocations tmpxe7fu0cj_hp_relaxed.owl Large joint dislocations UMLS:C4025260 human_phenotype owl:Class HP:0008786 biolink:NamedThing Iliac crest serration Irregularities of the iliac crest that produce the appearance of a lace border around it. tmpxe7fu0cj_hp_relaxed.owl Irregular lacy iliac crest|Lacy appearance of iliac crest UMLS:C1857186 HP:0008825 human_phenotype owl:Class HP:0030225 biolink:NamedThing Accumulation of muscle fiber desmin Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Muscle fibre desmin-reactive inclusion bodies|Accumulation of muscle fibre desmin|Muscle fiber desmin-reactive inclusion bodies UMLS:C4021043 owl:Class HP:0033748 biolink:NamedThing Hypoesthesia Decreased ability to perceive touch. tmpxe7fu0cj_hp_relaxed.owl Hypoaesthesia|Numbness 2021-04-21 11:10:28+00:00 In hte literature, hypoesthesia is not used specifically to denote loss of tactile sensation, but can be used to refer to losses of all types of sensation. Here, we use the term to refer to exteroceptive sensation. peter owl:Class UBERON:0014614 biolink:NamedThing cervical spinal cord white matter A white matter of spinal cord that is part of a cervical spinal cord. tmpxe7fu0cj_hp_relaxed.owl cervical spinal cord white matter UMLS:C0228616|BIRNLEX:1531|SCTID:174829001 uberon owl:Class HP:0033685 biolink:NamedThing Fiber type grouping An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type. tmpxe7fu0cj_hp_relaxed.owl Fibre type grouping 2021-03-07 22:40:37+00:00 peter owl:Class HP:0008739 biolink:NamedThing Labial pseudohypertrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C1835380 owl:Class HP:0003434 biolink:NamedThing Sensory ataxic neuropathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843859 human_phenotype owl:Class HP:0032346 biolink:NamedThing Cutaneous lichen amyloidosis Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs. tmpxe7fu0cj_hp_relaxed.owl 2019-02-23 16:20:56+00:00 Lichen amyloidosis is mostly associated with severe pruritus. It is a keratin-derived amyloidosis, in which cytokeratins serve as amyloid precursors, affecting only the dermis. Histological findings are grouped colloid bodies, which correspond to apoptotic basal keratinocytes. peter owl:Class MAXO:0010355 biolink:NamedThing neck radiograph procedure Use of an imaging test that uses small amounts of radiation to produce pictures of neck. tmpxe7fu0cj_hp_relaxed.owl neck X-ray procedure|neck radiogram procedure|radiograph of neck|radiography of neck 2020-04-07T20:39:14Z http://orcid.org/0000-0001-7941-2961 owl:Class HP:0009931 biolink:NamedThing Enlarged naris Increased aperture of the nostril. tmpxe7fu0cj_hp_relaxed.owl Enlarged nares|Broad nostril|Large nares|Naris, broad|Enlarged nostril|Increased diameter of nostril|Dilated nares|Increased width of nares|Wide nostril|Naris, enlarged|Increased diameter of nares|Wide nares|Dilated nostril SNOMEDCT_US:399353008|UMLS:C0426440 The nostrils or nares are typically symmetric, wide openings. They should be assessed with the face at rest to avoid the effect of flared alae nasi that occurs with distress. Note that the nares change with age, from rounded in infancy to elongated at a later age. 2009-05-10T10:30:20Z human_phenotype owl:Class HP:0012188 biolink:NamedThing Hyperemesis gravidarum Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight. tmpxe7fu0cj_hp_relaxed.owl MSH:D006939|UMLS:C0020450|SNOMEDCT_US:14094001 peter 2013-02-24T09:58:18Z human_phenotype owl:Class HP:0032378 biolink:NamedThing Immediate-type hypersensitivity drug reaction Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 14:43:10+00:00 Hypersensitivity is broadly defined as objectively reproducible symptoms or signs, initiated by exposure to a defined stimulus at a dose tolerated by normal subjects and may be caused by immunologic (allergic) and non-immunologic mechanisms. peter owl:Class HP:0025521 biolink:NamedThing Increased body fat percentage The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males. tmpxe7fu0cj_hp_relaxed.owl 2017-05-17 22:56:46+00:00 HPO:probinson owl:Class HP:0033902 biolink:NamedThing Arcuate artery endotheliosis Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling. tmpxe7fu0cj_hp_relaxed.owl Endotheliosis within arcuate arteries 2021-06-23 22:35:58+00:00 peter owl:Class GO:0072350 biolink:NamedThing tricarboxylic acid metabolic process The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing three carboxyl (COOH) groups or anions (COO-). tmpxe7fu0cj_hp_relaxed.owl tricarboxylic acid metabolism mah 2010-11-11T05:07:30Z biological_process owl:Class HP:0031104 biolink:NamedThing Insulin receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor. tmpxe7fu0cj_hp_relaxed.owl 2017-05-30 02:42:21+00:00 peter owl:Class HP:0020136 biolink:NamedThing Anticardiolipin IgG antibody positivity The presence of circulating IgG autoantibodies to cardiolipin. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-05 17:39:35+00:00 owl:Class HP:0030023 biolink:NamedThing Quelprud nodule Small cartilaginous prominence on the posterior concha. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022673 This feature is best visualized when the earlobe is tilted anteriorly. owl:Class HP:0025127 biolink:NamedThing Actinic keratosis A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color. tmpxe7fu0cj_hp_relaxed.owl Solar keratosis 2016-11-14 02:23:13+00:00 Up to ten percent of untreated actinic keratoses develop into squamous cell carcinoma of the skin. HPO:probinson owl:Class HP:0033994 biolink:NamedThing Dependency on parenteral nutrition Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition. tmpxe7fu0cj_hp_relaxed.owl 2021-08-21 12:07:39+00:00 peter owl:Class HP:0002371 biolink:NamedThing Loss of speech tmpxe7fu0cj_hp_relaxed.owl Loss of speech UMLS:C0542223 owl:Class HP:5000006 biolink:NamedThing Anti-CV2/CRMP5 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum. tmpxe7fu0cj_hp_relaxed.owl Anti-CV2/collapsin response mediator protein (CRMP)5 antibody|Anti-CV2 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0002370 biolink:NamedThing Poor coordination tmpxe7fu0cj_hp_relaxed.owl Poor coordination UMLS:C0563243 human_phenotype owl:Class HP:0020134 biolink:NamedThing Increased urine neutrophil count Abnormally increased count of neutrophils in urine. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-05 17:23:53+00:00 owl:Class HP:0008176 biolink:NamedThing Neonatal unconjugated hyperbilirubinemia tmpxe7fu0cj_hp_relaxed.owl UMLS:C0559506|SNOMEDCT_US:281611002 human_phenotype owl:Class HP:0032168 biolink:NamedThing Clostridium difficile colitis An infection of the colon (colitis) by clostridium difficile. tmpxe7fu0cj_hp_relaxed.owl 2018-12-09 14:28:28+00:00 peter owl:Class HP:0041042 biolink:NamedThing Absent neutrophil lactoferrin The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0002953 biolink:NamedThing Vertebral compression fracture tmpxe7fu0cj_hp_relaxed.owl Vertebral body compression|Vertebral compression|Compression fracture of a vertebral body|Vertebral compression or collapse|Vertebral compression fractures|Vertebral collapse|Fractures of vertebral bodies UMLS:C0262431|SNOMEDCT_US:84138006|UMLS:C0410550|SNOMEDCT_US:42942008 owl:Class HP:0004846 biolink:NamedThing Prolonged bleeding after surgery Bleeding that persists longer than the normal time following a surgical procedure. tmpxe7fu0cj_hp_relaxed.owl Protracted bleeding after surgery|Excessive bleeding during surgery|Prolonged bleeding after surgery UMLS:C4021646 human_phenotype owl:Class HP:0008821 biolink:NamedThing Hypoplastic inferior ilia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1837078 human_phenotype owl:Class HP:0025665 biolink:NamedThing Extremely preterm birth Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation). tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class CL:0000767 biolink:NamedThing basophil Any of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation. A basophil is CD123-positive, CD193-positive, CD203c-positive, and FceRIa-positive. tmpxe7fu0cj_hp_relaxed.owl basophilic leukocyte|polymorphonuclear leucocyte|polymorphonuclear leukocyte|basophilic leucocyte BTO:0000129|FMA:62862|CALOHA:TS-0073 Matures in the bone marrow and account for <1% of leukocytes in the peripheral blood, spleen, and bone marrow. Basophils are described as being CD11a-positive, CD11b-positive, CD13-positive, CD15-positive, CD18-positive, CD21-positive, CD25-positive, CD29-positive, CD35-positive, CD40-positive, CD40L-positive, CD44-positive, CD45R-negative, CD46-positive, CD49a-positive, CD49b-positive, CD49d-positive, CD55-positive, CD59-positive, CD62L-positive, CD63-positive, CD69-positive, CD90-negative, CD116-positive, CD117-negative, CD124-positive, CD125-positive, CD131-positive, CD161-positive, CD184-positive, CD191-positive, CD192-positive, CD197-positive, CD200R3-positive, CD218-positive, CD282-positive, CD284-positive, CD289-positive, CD290-positive, CD294-positive, natural killer cell receptor 2B4-positive, smad1-positive, CD3-negative, CD4-negative, CD7-negative, CD8-negative, CD14-negative, CD15-negative, CD16-negative, CD19-negative, CD20-negative, CD34-negative, CD36-negative, CD45R-negative, CD56-negative, CD57-negative, CD235a-negative, and GR1-negative. Transcription factors- GATA1-positive, PU.1-positive. cell owl:Class HP:0002265 biolink:NamedThing Large fleshy ears tmpxe7fu0cj_hp_relaxed.owl Large fleshy ears UMLS:C3808403 human_phenotype owl:Class HP:0001283 biolink:NamedThing Bulbar palsy Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. tmpxe7fu0cj_hp_relaxed.owl Bulbar weakness|Bulbar palsies|Bulbar muscle weakness UMLS:C4082299|SNOMEDCT_US:398432008|UMLS:C1301959|MSH:D010244 HP:0003709|HP:0003441 human_phenotype owl:Class HP:0009045 biolink:NamedThing Exercise-induced rhabdomyolysis Rhabdomyolysis induced by exercise. tmpxe7fu0cj_hp_relaxed.owl Rhabdomyolysis with exercise UMLS:C4021526 human_phenotype owl:Class HP:0033621 biolink:NamedThing Bronchial diverticula Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 22:43:23+00:00 peter owl:Class HP:0005588 biolink:NamedThing Patchy palmoplantar hyperkeratosis A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected. tmpxe7fu0cj_hp_relaxed.owl Palmoplantar keratoderma, patchy|Patchy palmoplantar keratoderma UMLS:C4021633 Patchy palmoplantar keratoderma may develop at sites of recurrent friction. owl:Class HP:0025721 biolink:NamedThing Limited vertical extraocular movement Limited mobility of the eye to move up and down (vertically) within its socket. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0012193 biolink:NamedThing Anaplastic large-cell lymphoma A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0206180|MSH:D017728|SNOMEDCT_US:53237008|SNOMEDCT_US:277637000 peter 2013-02-27T07:15:32Z human_phenotype owl:Class HP:0032390 biolink:NamedThing Periventricular ribbonlike heterotopia Heterotopia that forms a continuous wavy line along the ventricular wall. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 16:02:11+00:00 peter owl:Class HP:0031927 biolink:NamedThing Flexner-Wintersteiner rosette The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil. tmpxe7fu0cj_hp_relaxed.owl 2018-07-04 13:26:44+00:00 A type of rosette in which a halo of cells surrounds a largely empty central hub. Small cytoplasmic extensions from the cells project into the lumen. peter owl:Class HP:0025195 biolink:NamedThing Central diaphragmatic hernia A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present. tmpxe7fu0cj_hp_relaxed.owl Central hernia 2016-12-05 01:57:20+00:00 HPO:probinson owl:Class HP:0031130 biolink:NamedThing Impaired calcium ionophore-induced platelet aggregation Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore. tmpxe7fu0cj_hp_relaxed.owl Impaired Ca ionophore-induced platelet aggregation|Impaired Ca2+ ionophore-induced platelet aggregation 2017-06-10 12:33:25+00:00 peter owl:Class HP:0003555 biolink:NamedThing Muscle fiber splitting Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. tmpxe7fu0cj_hp_relaxed.owl Fibre splitting|Muscle fibre splitting|Fiber splitting UMLS:C1836057 human_phenotype owl:Class HP:0012851 biolink:NamedThing Colonic stenosis A narrowing of a segment of colon whereby bowel continuity is maintained. tmpxe7fu0cj_hp_relaxed.owl Stenosis of the colon|Narrowing of the colon SNOMEDCT_US:8543007|UMLS:C0267466|SNOMEDCT_US:19132000 hecht 2014-06-07T09:22:41Z human_phenotype owl:Class HP:0010984 biolink:NamedThing Digenic inheritance A type of multifactorial inheritance governed by the simultaneous action of two gene loci. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023614 peter 2011-02-08T10:13:54Z human_phenotype owl:Class HP:0025618 biolink:NamedThing Reduced plasma cell count An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 23:52:54+00:00 HPO:probinson owl:Class HP:0008723 biolink:NamedThing Gonadal dysgenesis with female appearance, male Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation. tmpxe7fu0cj_hp_relaxed.owl Xy female gonadal dysgenesis UMLS:C4024632|UMLS:C4020788 Very bad term - try to get rid of it later. human_phenotype owl:Class HP:0033187 biolink:NamedThing Hyperimidodipeptiduria Elevated levels of proline-containing dipeptides in urine. tmpxe7fu0cj_hp_relaxed.owl Imidodipeptiduria 2020-10-04 11:55:48+00:00 Prolidase splits dipeptides containing C-terminal proline or hydroxyproline. In prolidase deficiency, normal recycling of proline cannot occur, and this leads to iminopeptiduria, the characteristic biochemical abnormality. Glycylproline is the major urinary imidodipeptide. Leucylproline can also be identified in persons with prolidase deficiency. peter owl:Class HP:0400008 biolink:NamedThing Menometrorrhagia Prolonged/excessive menses and bleeding at irregular intervals. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0232943|SNOMEDCT_US:314631008|SNOMEDCT_US:351814001 owl:Class HP:0002483 biolink:NamedThing Bulbar signs tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856507 human_phenotype owl:Class HP:0007395 biolink:NamedThing Postnatal-onset ichthyosiform erythroderma A type of ichthyosiform erythroderma with postnatal onset. tmpxe7fu0cj_hp_relaxed.owl Postnatal-onset ichthyosis UMLS:C4021576 human_phenotype owl:Class HP:0032174 biolink:NamedThing Tree-in-bud pattern The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376). tmpxe7fu0cj_hp_relaxed.owl 2019-01-06 11:14:22+00:00 This pattern is most pronounced in the lung periphery and is usually associated with abnormalities of the larger airways. It is particularly common in diffuse panbronchiolitis, endobronchial spread of mycobacterial infection, and cystic fibrosis. A similar pattern is a rare manifestation of arteriolar (microangiopathic) disease. peter owl:Class HP:0011188 biolink:NamedThing Focal EEG discharges with secondary generalization Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp. tmpxe7fu0cj_hp_relaxed.owl Focal EEG discharges with secondary generalisation UMLS:C4023486 hecht 2011-11-19T10:44:33Z human_phenotype owl:Class HP:0033165 biolink:NamedThing Necrotizing enterocolitis Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine. tmpxe7fu0cj_hp_relaxed.owl 2020-09-24 09:32:06+00:00 Necrotizing enterocolitis almost exclusively affects neonates. peter owl:Class HP:0100343 biolink:NamedThing Tibial deviation of the 3rd toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022137 doelkens 2010-11-11T03:43:52Z human_phenotype owl:Class HP:0025251 biolink:NamedThing Open comedo A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black. tmpxe7fu0cj_hp_relaxed.owl Blackhead 2016-12-17 14:04:52+00:00 HPO:probinson owl:Class HP:0100456 biolink:NamedThing Osteolytic defects of the proximal phalanx of the 4th toe tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022071 human_phenotype owl:Class HP:0033564 biolink:NamedThing Stasis dermatitis Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus. tmpxe7fu0cj_hp_relaxed.owl Venous eczema|Varicose eczema 2021-01-23 12:54:26+00:00 peter owl:Class HP:0033580 biolink:NamedThing Compound motor action potential abnormality An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). tmpxe7fu0cj_hp_relaxed.owl 2021-01-24 16:18:16+00:00 peter owl:Class HP:0000444 biolink:NamedThing Convex nasal ridge Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. tmpxe7fu0cj_hp_relaxed.owl Convex dorsum of nose|Beaked nose|Polly beak nasal deformity|Hooked nose|Beaklike protrusion|Convex nasal dorsum UMLS:C0240538 human_phenotype owl:Class HP:0030539 biolink:NamedThing Unaided visual acuity 0.4 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073013 owl:Class HP:0033295 biolink:NamedThing Mesangial Immune complex deposition Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 21:33:16+00:00 peter owl:Class HP:0020203 biolink:NamedThing Z-band streaming Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-12-23 15:58:23+00:00 owl:Class HP:0033673 biolink:NamedThing Positive Phalen test The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger). tmpxe7fu0cj_hp_relaxed.owl Phalen manoeuvre|Phalen maneuver 2021-02-28 15:04:14+00:00 See Figure 2 of PMID:31773104. peter owl:Class HP:0007220 biolink:NamedThing Demyelinating motor neuropathy Demyelination of peripheral motor nerves. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1969462 Demyelinating motor neuropathy demonstrates slow motor nerve conduction velocities with reduced amplitudes of motor nerve conduction and prolonged distal latencies. human_phenotype owl:Class HP:0040104 biolink:NamedThing Osseous stenosis of the external auditory canal tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022437 HPO:skoehler owl:Class HP:0012214 biolink:NamedThing Increased glomerular filtration rate An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. tmpxe7fu0cj_hp_relaxed.owl Increased GFR UMLS:C0856948 peter 2013-03-14T07:55:03Z human_phenotype owl:Class HP:0031874 biolink:NamedThing Late chronotype A tendency towards rising very late in the morning and going to bed late at night. tmpxe7fu0cj_hp_relaxed.owl Late sleep onset 2018-05-06 14:03:08+00:00 peter owl:Class HP:0000046 biolink:NamedThing Small scrotum Apparently small scrotum for age. tmpxe7fu0cj_hp_relaxed.owl Scrotal hypoplasia|Smaller than typical growth of scrotum|Underdeveloped scrotum|Hypoplastic scrotum UMLS:C0431659|SNOMEDCT_US:204912007 A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum. HP:0030276 owl:Class HP:0032470 biolink:NamedThing Monilethrix The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture. tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 10:47:20+00:00 This feature is often accompanied by hair loss. peter owl:Class HP:0012509 biolink:NamedThing Reduced thyroxin-binding globulin An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022872 Thyroxin-binding globulin is known as serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), Entrez Gene ID 6906. Individuals with TBG deficiency are euthyroid. peter 2013-12-08T08:25:46Z human_phenotype owl:Class PATO:0002040 biolink:NamedThing biconvex A shape quality inhering in a bearer by virtue of the bearer's being convex on both sides or surface. tmpxe7fu0cj_hp_relaxed.owl Image:http://www.thefreedictionary.com/_/viewer.aspx?path=hm&name=A4bicovx quality owl:Class HP:0032983 biolink:NamedThing Atoll sign CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis. tmpxe7fu0cj_hp_relaxed.owl Reversed halo sign peter owl:Class HP:0030571 biolink:NamedThing Pinhole visual acuity 0.3 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073044 owl:Class HP:0005689 biolink:NamedThing Dermatoglyphic ridges abnormal tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025152 human_phenotype owl:Class HP:0033389 biolink:NamedThing Bronchopulmonary anastomosis Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries. tmpxe7fu0cj_hp_relaxed.owl 2021-01-06 12:23:14+00:00 peter owl:Class HP:0004866 biolink:NamedThing Impaired ADP-induced platelet aggregation Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025282 human_phenotype owl:Class GO:0016769 biolink:NamedThing transferase activity, transferring nitrogenous groups Catalysis of the transfer of a nitrogenous group from one compound (donor) to another (acceptor). tmpxe7fu0cj_hp_relaxed.owl transferase activity, transferring other nitrogenous groups EC:2.6.-.- molecular_function owl:Class HP:0003990 biolink:NamedThing Pointed ulna tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025461 human_phenotype owl:Class HP:0032708 biolink:NamedThing Focal aware cognitive seizure with anomia A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0003614 biolink:NamedThing Trimethylaminuria Increased concentration of trimethylamine in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine trimethylamine levels SNOMEDCT_US:237959005|MSH:C536561|UMLS:C0342739 Increased concentration of trimethylamine, an organic amino compound with an oder characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide. owl:Class HP:0010847 biolink:NamedThing EEG with spike-wave complexes (<2.5 Hz) The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG). tmpxe7fu0cj_hp_relaxed.owl Electroencephalogram demonstrated spike-slow wave discharges UMLS:C4023686 Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. peter 2010-07-10T08:18:25Z owl:Class HP:0011913 biolink:NamedThing Lumbar hypertrichosis Excessive, increased hair growth located in the lumbar region. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023130 peter 2012-06-05T10:13:10Z human_phenotype owl:Class HP:0002075 biolink:NamedThing Dysdiadochokinesis A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. tmpxe7fu0cj_hp_relaxed.owl Difficulty performing quick and alternating movements|Dysdiadochokinesia UMLS:C0234979|SNOMEDCT_US:23133003 Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion. HP:0002426 human_phenotype owl:Class HP:0025026 biolink:NamedThing H-type rectovestibular fistula Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract. tmpxe7fu0cj_hp_relaxed.owl 2016-08-26 11:58:54+00:00 HPO:probinson owl:Class HP:0004639 biolink:NamedThing Elevated amniotic fluid alpha-fetoprotein An elevation of alpha-feto protein measured in the amniotic fluid. tmpxe7fu0cj_hp_relaxed.owl Elevated amniotic fluid alpha-fetoglobulin|Elevated amniotic fluid alpha-1-fetoprotein|Elevated amniotic fluid alpha foetal protein|Elevated amniotic fluid alpha fetal protein UMLS:C1839860 This feature can be found in pregnancies with fetuses affected by a range of abnormalities including for instance encephalocele. HP:0005985 human_phenotype owl:Class HP:0004914 biolink:NamedThing Recurrent infantile hypoglycemia Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period. tmpxe7fu0cj_hp_relaxed.owl Episodic infantile hypoglycemia|Recurrent low blood sugar in infant UMLS:C4021644 HP:0004917 human_phenotype owl:Class HP:0008672 biolink:NamedThing Calcium oxalate nephrolithiasis The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. tmpxe7fu0cj_hp_relaxed.owl Ca2+ oxalate urolithiasis|Oxalate nephrolithiasis|Ca2+ oxalate kidney stone|Ca oxalate kidney stone|Calcium oxalate kidney stones|Calcium oxalate urolithiasis|Ca2+ oxalate nephrolithiasis|Ca oxalate nephrolithiasis|Ca oxalate urolithiasis UMLS:C4280806|UMLS:C1833683|SNOMEDCT_US:444717006|MSH:C563477 HP:0008725|HP:0008700 human_phenotype owl:Class HP:0025650 biolink:NamedThing Steroid-dependent nephrotic syndrome A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy. tmpxe7fu0cj_hp_relaxed.owl SDNS Biopsy is necessary to determine underlying histology. Treatment with levamisole or immunosuppression (e.g. calcineurin inhibitors, cyclophosphamide or mycophenolat mofetil) in order to reduce steroid toxicity. peterrobinson owl:Class HP:0030856 biolink:NamedThing Posterior staphyloma A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:87819007|UMLS:C0155360 owl:Class HP:0033535 biolink:NamedThing Reduced platelet dense granules Decreased number of platelet dense granules, a type of platelet organelle. tmpxe7fu0cj_hp_relaxed.owl 2021-01-15 13:04:19+00:00 peter owl:Class HP:4000041 biolink:NamedThing AA amyloidosis Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 20:38:51+00:00 robinp owl:Class HP:0003577 biolink:NamedThing Congenital onset A phenotypic abnormality that is present at birth. tmpxe7fu0cj_hp_relaxed.owl Onset at birth|Symptoms present at birth|Onset in utero|Prenatal onset|Intrauterine onset UMLS:C2752013|UMLS:C1836142 Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. This term should be used for phenotypic abnormalities or diseases initially observed at the time of birth. For abnormalities observed prior to (e.g., by fetal ultrasound), use the term Antenatal onset (HP:0030674). HP:0003660|HP:0003595|HP:0003601|HP:0003624|HP:0003666 human_phenotype owl:Class HP:0400003 biolink:NamedThing Focal absence of the external ear Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021874 owl:Class HP:0025241 biolink:NamedThing Flame-shaped retinal hemorrhage A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells). tmpxe7fu0cj_hp_relaxed.owl Flame-shaped retinal haemorrhage|Linear retina heme|Feathered retinal heme 2016-12-17 01:14:14+00:00 Flame-shaped hemorrhages are typically located in the posterior pole and tend to resolve within around six weeks. THeir pathophysiology is thought to reflect ischemic leakage from arterioles or veins that are ischemic or, in the case of veins, under high pressure. HPO:probinson owl:Class HP:0033299 biolink:NamedThing Reduced circulating complement factor H related protein 1 concentration Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 21:57:26+00:00 peter owl:Class HP:0003365 biolink:NamedThing Arthralgia of the hip Joint pain affecting the hip. tmpxe7fu0cj_hp_relaxed.owl Coxalgia|Hip joint pain|Hip arthralgia UMLS:C0019559|SNOMEDCT_US:49218002 human_phenotype owl:Class HP:0010605 biolink:NamedThing Chalazion A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes. tmpxe7fu0cj_hp_relaxed.owl Meibomian gland lipogranuloma SNOMEDCT_US:1482004|UMLS:C0007933|MSH:D017043 sandra1 2009-10-27T10:58:24Z human_phenotype owl:Class HP:0011973 biolink:NamedThing Paroxysmal lethargy Repeated episodes of sudden-onset and transient lethargy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1847507 peter 2012-07-18T08:48:06Z human_phenotype owl:Class HP:0006549 biolink:NamedThing Unilateral primary pulmonary dysgenesis tmpxe7fu0cj_hp_relaxed.owl Primary pulmonary dysgenesis, unilateral UMLS:C4021592 owl:Class HP:0020123 biolink:NamedThing Tympanosclerosis A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear. tmpxe7fu0cj_hp_relaxed.owl Tympanic calcification Plaques related to tympanosclerosis do not form spherical lesions and are typically within the drum substance itself which is normally easily discerned when using the binocular view of a microscope rather than the monocular, two-dimensional view of a hand-held otoscope. Such plaques can alter compliance of the tympanic membrane and can lead to sclerotic fixation of the ossicles, both of which can result in a mild conductive hearing loss. Histologically, lesions vary slightly according to their stage of development showing differing amounts of increased fibroblasts, abnormal fibers, areas of hyalinization, and areas of calcification into an osseous-like matrix. Most patients require no treatment. robinp 2019-07-02 20:36:06+00:00 owl:Class HP:0008435 biolink:NamedThing Absent in utero ossification of vertebral bodies tmpxe7fu0cj_hp_relaxed.owl UMLS:C1842698 human_phenotype owl:Class HP:0032119 biolink:NamedThing Narrow angle glaucoma A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle. tmpxe7fu0cj_hp_relaxed.owl 2018-11-17 15:31:48+00:00 peter owl:Class HP:0033647 biolink:NamedThing Silhouette sign The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette. tmpxe7fu0cj_hp_relaxed.owl 2021-02-24 12:47:22+00:00 The silhouette sign is not always indicative of disease (eg, unexplained absence of right border of heart is seen in association with pectus excavatum and sometimes in healthy individuals). See Figure 67 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. peter owl:Class HP:0025182 biolink:NamedThing Localized area of pendulous skin A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region. tmpxe7fu0cj_hp_relaxed.owl Localised area of pendulous skin 2016-12-04 21:29:56+00:00 HPO:probinson owl:Class HP:0007569 biolink:NamedThing Generalized seborrheic dermatitis Seborrheic dermatitis that is not localized to any one particular region. tmpxe7fu0cj_hp_relaxed.owl Generalized seborrheic eczema|Generalised seborrheic dermatitis|Generalised seborrheic eczema UMLS:C4024844 human_phenotype owl:Class HP:0500016 biolink:NamedThing Abnormal cardiac MRI Abnormal results of a MRI for the heart. tmpxe7fu0cj_hp_relaxed.owl Abnormal cardiac magnetic resonance imaging|Abnormal heart MRI 2017-05-12 16:33:16+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0020121 biolink:NamedThing Conception by assisted reproductive technology A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation. tmpxe7fu0cj_hp_relaxed.owl Assisted reproductive technology is used primarily for infertility treatments to achieve pregnancy. robinp 2019-07-02 16:46:09+00:00 owl:Class HP:0012095 biolink:NamedThing Multiple joint dislocation Dislocation of many joints. tmpxe7fu0cj_hp_relaxed.owl Multiple joint dislocations UMLS:C0332792|SNOMEDCT_US:287096003|SNOMEDCT_US:34277002 peter 2012-08-20T09:19:52Z human_phenotype owl:Class HP:0033768 biolink:NamedThing Penile thrush Overgrowth of candida albicans in the penis. tmpxe7fu0cj_hp_relaxed.owl Penile candidiasis 2021-04-30 11:53:20+00:00 peter owl:Class HP:0033577 biolink:NamedThing In situ pulmonary artery thrombosis Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease. tmpxe7fu0cj_hp_relaxed.owl 2021-01-24 14:06:23+00:00 peter owl:Class HP:0030663 biolink:NamedThing Optically empty vitreous Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073118 ORCID:0000-0003-0986-4123 owl:Class HP:0100412 biolink:NamedThing Complete duplication of the middle phalanx of the 5th toe Complete duplication of the middle phalanx of the 5th toe. tmpxe7fu0cj_hp_relaxed.owl Complete duplication of the middle bone of the pinky toe|Complete duplication of the middle bone of the little toe|Complete duplication of the middle phalanx of the fifth toe|Complete duplication of the middle bone of the pinkie toe UMLS:C4020985 human_phenotype owl:Class UBERON:0016459 biolink:NamedThing posterior pole of lens The central point on the posterior surface of the lens. tmpxe7fu0cj_hp_relaxed.owl polus posterior (lens)|polus posterior lentis FMA:58898|NCIT:C33375 uberon owl:Class HP:0200084 biolink:NamedThing Giant cell hepatitis Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver. tmpxe7fu0cj_hp_relaxed.owl Giant cell hepatitis on biopsy|Giant cell hepatitis shown on biopsy|Giant cell hepatitis on liver biopsy UMLS:C2675624|SNOMEDCT_US:69800000|UMLS:C0027613|UMLS:C2673820|UMLS:C4020697 sebastiankohler 2013-06-04T02:32:26Z human_phenotype owl:Class HP:0100624 biolink:NamedThing Corpus cavernosum sclerosis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022008 doelkens 2010-12-28T12:47:33Z human_phenotype owl:Class HP:0002067 biolink:NamedThing Bradykinesia Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). tmpxe7fu0cj_hp_relaxed.owl Slowness of movements|Slow movements MSH:D018476|SNOMEDCT_US:399317006|UMLS:C0233565 human_phenotype owl:Class HP:0005249 biolink:NamedThing Functional intestinal obstruction tmpxe7fu0cj_hp_relaxed.owl UMLS:C3639956 human_phenotype owl:Class PATO:0002026 biolink:NamedThing non-progressive A quality of a single process inhering in a bearer by virtue of the bearer's not increasing over time. tmpxe7fu0cj_hp_relaxed.owl 2008-12-18T12:49:19Z quality owl:Class HP:0030438 biolink:NamedThing Anal canal squamous cell carcinoma A squamous cell carcinoma that originates in the anal canal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1332262 Patients typically present with bright red bleeding, pain, and/or a palpable mass. When a clinically suspicious lesion is identified, diagnosis relies on cytologic or histologic confirmation. owl:Class CHEBI:25901 biolink:NamedThing pentose A five-carbon monosaccharide which in its linear form contains either an aldehyde group at position 1 (aldopentose) or a ketone group at position 2 (ketopentose). tmpxe7fu0cj_hp_relaxed.owl pentose|pentoses chebi_ontology owl:Class HP:0033402 biolink:NamedThing Digital ischemia Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 15:17:21+00:00 peter owl:Class HP:0008331 biolink:NamedThing Elevated creatine kinase after exercise tmpxe7fu0cj_hp_relaxed.owl Increased phospho-creatine kinase after exercise|Increased creatine phosphokinase after exercise|Elevated CK after exercise|Increased creatine kinase after exercise|Elevated phospho-CK after exercise|Increased phospho-CK after exercise|Elevated phospho-creatine kinase after exercise|Elevated CPK after exercise|Increased CK after exercise|Elevated creatine phosphokinase after exercise UMLS:C4024700 human_phenotype owl:Class HP:0007812 biolink:NamedThing Herpetiform corneal ulceration The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining. tmpxe7fu0cj_hp_relaxed.owl Herpetiform corneal ulcers|Dendritic corneal epithelial ulcer UMLS:C4020911 human_phenotype owl:Class HP:0032537 biolink:NamedThing Delayed fracture healing A delay in healing of a fracture past the expected duration. tmpxe7fu0cj_hp_relaxed.owl 2019-05-27 13:23:40+00:00 Initially, after injury a hematoma forms and this is followed by inflammatory cells arriving at the fracture site to debride the wound. During the soft callus phase of healing a collar of bone forms at the periosteum adjacent to the fractured bone, and cells in the periosteum proliferate and differentiate into chondrocytes that form cartilage that bridges the fracture gap. During the hard callus phase, the cartilage is replaced by bone through endochondral ossification, possibly by transformation of some of the chondrocytes into osteoblasts. Finally, through remodeling, newly formed bone is restored to its pre-injured state. Depending on the site of the fracture, healing usually takes from 3 to 12 weeks in healthy adults. peter owl:Class HP:0011995 biolink:NamedThing Atrial septal dilatation A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography. tmpxe7fu0cj_hp_relaxed.owl Atrial septal aneurysm UMLS:C0521533|SNOMEDCT_US:95440004 Atrial septal aneurysm formation may be secondary to raised interatrial pressure gradients, producing a bulging septal shift toward the low-pressure side. However, it has been also found in patients with normal atrial pressures, suggesting a primary (congenital) malformation. peter 2012-07-19T11:35:07Z human_phenotype owl:Class HP:0009920 biolink:NamedThing Nevus of Ota A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera. tmpxe7fu0cj_hp_relaxed.owl Naevus fuscoceruleus ophthalmomaxillaris|Congenital melanosis bulbi|Oculodermal melanocytosis|Nevus fuscoceruleus ophthalmomaxillaris SNOMEDCT_US:254817005|SNOMEDCT_US:414929001|MSH:D009507|UMLS:C0027961 peter 2009-05-02T06:26:59Z human_phenotype owl:Class HP:0040292 biolink:NamedThing Left hemiplegia tmpxe7fu0cj_hp_relaxed.owl Hemiplegia (left) owl:Class HP:5000034 biolink:NamedThing Anti-Tr/DNER antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr. tmpxe7fu0cj_hp_relaxed.owl PCA-Tr|Anti-delta/notch-like epidermal growth factor-related receptor antibody ORCID:0000-0002-3387-1836 owl:Class HP:0007285 biolink:NamedThing Facial palsy secondary to cranial hyperostosis Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve. tmpxe7fu0cj_hp_relaxed.owl Facial palsy caused by overgrowth of cranial bones|Facial palsy secondary to hypertrophy of cranial bones|Facial palsy caused by excessive growth of facial bones|Facial palsy caused by enlargement of cranial bones UMLS:C1849260 human_phenotype owl:Class HP:0030035 biolink:NamedThing Struvite nephrolithiasis Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). tmpxe7fu0cj_hp_relaxed.owl Struvite kidney stones UMLS:C4021056 owl:Class HP:0006577 biolink:NamedThing Macronodular cirrhosis A type of cirrhosis characterized by the presence of large regenerative nodules. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:86454000|SNOMEDCT_US:43904005|UMLS:C2004456 In macronodular cirrhosis (post-necrotic cirrhosis), the nodules are larger than 3 mm. human_phenotype owl:Class HP:0030857 biolink:NamedThing Eye movement-induced pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280742 owl:Class HP:0012692 biolink:NamedThing Focal T2 hyperintense thalamic lesion A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022774 The term "unidentified bright object" has been used to describe T2 hyperintense lesions in the thalamus and elsewhere in patients with neurofibromatosis. peter 2014-03-22T04:54:03Z human_phenotype owl:Class HP:0012064 biolink:NamedThing Unicameral bone cyst A benign fluid filled simple cyst of bone filled with serous fluid. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:203467005|UMLS:C4082185|SNOMEDCT_US:112643007 hecht 2012-08-03T02:42:14Z human_phenotype owl:Class HP:0011786 biolink:NamedThing Thyrotoxicosis with toxic single thyroid nodule tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:73869005|UMLS:C0154141|SNOMEDCT_US:69329005 peter 2012-04-22T06:16:09Z human_phenotype owl:Class HP:0031978 biolink:NamedThing Increased vertical cup-to-disc ratio - 1.0 Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3). tmpxe7fu0cj_hp_relaxed.owl 2018-07-08 00:15:23+00:00 peter owl:Class HP:0002524 biolink:NamedThing Cataplexy A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0007384|MSH:D002385|SNOMEDCT_US:46263000 Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage. HP:0002428|HP:0002525 owl:Class HP:0005543 biolink:NamedThing Reduced protein C activity An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va. tmpxe7fu0cj_hp_relaxed.owl Protein C deficiency MSH:D020151|SNOMEDCT_US:76407009|UMLS:C0398625 Protein C can function as an anticoagulant by irreversibly proteolytically inactivating Factor Va and Factor VIIIa. Therefore, a defect in protein C is associated with an increased risk of thrombosis. human_phenotype owl:Class HP:0012164 biolink:NamedThing Asterixis A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0232766|MSH:D020820|SNOMEDCT_US:32838008 The examiner can test for asterixis by asking the patient to extend the arms, spread the fingers, dorsiflex the wrist and observe for the abnormal "flapping" tremor at the wrist. Asterixis represents the failure to actively maintain a position and is caused by the abnormal function of diencephalic motor centers that regulate the tone of the agonist and antagonist muscles involved in maintaining posture. peter 2013-02-16T10:20:08Z human_phenotype owl:Class HP:0031636 biolink:NamedThing Anomalous origin of the right common carotid artery from the aorta The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 12:31:37+00:00 peter owl:Class HP:0000594 biolink:NamedThing Shallow anterior chamber Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:246986004|UMLS:C0423276 HP:0007756 human_phenotype owl:Class HP:0032835 biolink:NamedThing Neonatal seizure with bilateral symmetric automatism Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0025334 biolink:NamedThing Triggered by emotion Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion). tmpxe7fu0cj_hp_relaxed.owl Emotion triggered symptoms 2017-02-12 11:38:35+00:00 HPO:probinson owl:Class PATO:0000700 biolink:NamedThing rough A texture quality inhering in a bearer by virtue of the bearer's irregular surface. tmpxe7fu0cj_hp_relaxed.owl coarse PATO:0001616 quality owl:Class HP:0000466 biolink:NamedThing Limited neck range of motion tmpxe7fu0cj_hp_relaxed.owl Limited cervical range of motion|Limited neck range of motion UMLS:C1859212 owl:Class HP:0500008 biolink:NamedThing Cornea verticillata Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea. tmpxe7fu0cj_hp_relaxed.owl Vortex keratopathy Cornea verticillata can be a feature of Fabry disease and can occur as an adverse effect of mediciations including amiodarone. owl:Class HP:0032826 biolink:NamedThing Focal neonatal sequential seizure Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures. tmpxe7fu0cj_hp_relaxed.owl No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic etiology. peter owl:Class HP:0001008 biolink:NamedThing Accumulation of melanosomes in melanocytes tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843389 human_phenotype owl:Class UBERON:0015917 biolink:NamedThing superficial lymph node A lymph node that is located close to the surface. tmpxe7fu0cj_hp_relaxed.owl NCIT:C102716|FMA:12767 uberon owl:Class CHEBI:35343 biolink:NamedThing 17beta-hydroxy steroid A 17-hydroxy steroid in which the hydroxy group at position 17 has a beta-configuration. tmpxe7fu0cj_hp_relaxed.owl 17beta-hydroxysteroids|17beta-hydroxysteroid|17beta-hydroxy steroids|a 17beta-hydroxy steroid 0 C18H29OR 261.423 261.22184 CC12CCC3C(CCC4CCCCC34[*])C1CC[C@@H]2O KEGG:C03051|MetaCyc:17-beta-Hydroxysteroids CHEBI:794|CHEBI:19176 chebi_ontology owl:Class HP:0025282 biolink:NamedThing Dull Applied to pain that is dull, i.e., not severe but that continues over a long period of time. tmpxe7fu0cj_hp_relaxed.owl Dull pain 2016-12-18 15:23:43+00:00 HPO:probinson owl:Class HP:0100445 biolink:NamedThing Curved middle phalanx of the 5th toe A deviation from the normal straight form of the middle phalanx of the fifth toe. tmpxe7fu0cj_hp_relaxed.owl Curved middle bone of little toe|Curved middle bone of pinky toe|Curved middle bone of pinkie toe UMLS:C4022082 human_phenotype owl:Class HP:0040227 biolink:NamedThing Decreased level of histidine-rich glycoprotein Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280716 Requested and created by members of the BRIDGE consortium owl:Class HP:0012774 biolink:NamedThing Increased upper to lower segment ratio Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844571 peter 2014-04-07T03:16:21Z human_phenotype owl:Class HP:0032066 biolink:NamedThing Decreased serum bicarbonate concentration An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased serum HCO3 concentration 2018-09-23 14:36:14+00:00 peter owl:Class HP:0003382 biolink:NamedThing Hypertrophic nerve changes tmpxe7fu0cj_hp_relaxed.owl UMLS:C1832776 human_phenotype owl:Class HP:0033678 biolink:NamedThing Acute coronary syndrome The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI). tmpxe7fu0cj_hp_relaxed.owl 2021-03-03 20:22:24+00:00 A diagnosis of NSTEMI can be made when the ischemia is sufficiently severe to cause myocardial damage that results in the release of a biomarker of myocardial necrosis into the circulation (cardiac-specific troponins T or I, or muscle and brain fraction of creatine kinase [CK-MB]). In contrast, the patient is considered to have experienced UA if no such biomarker can be detected in the bloodstream hours after the initial onset of ischemic chest pain. Unstable angina exhibits 1 or more of 3 principal presentations: (1) rest angina (usually lasting >20 minutes), (2) new-onset (<2 months previously) severe angina, and (3) a crescendo pattern of occurrence (increasing in intensity, duration, frequency, or any combination of these factors). peter owl:Class GO:0003010 biolink:NamedThing voluntary skeletal muscle contraction A process in which force is generated within voluntary skeletal muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the voluntary skeletal muscle, the muscle contraction takes advantage of an ordered sarcomeric structure and it is under voluntary control. Voluntary skeletal muscle is skeletal muscle that is under conscious control. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0001073 biolink:NamedThing Cigarette-paper scars Thin (atrophic) and wide scars. tmpxe7fu0cj_hp_relaxed.owl Cigarette paper scarring|Cigarette-paper scars|'cigarette paper scarring' UMLS:C1851828 Cigarette-paper scars are atrophic scars in the skin at sites of minor lacerations over the knees, shins, and elbows. human_phenotype owl:Class HP:0011285 biolink:NamedThing Long-segment aganglionic megacolon A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023430 peter 2012-01-01T03:02:49Z human_phenotype owl:Class HP:0004365 biolink:NamedThing Abnormal circulating tryptophan concentration Any deviation from the normal concentration of tryptophan in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Abnormality of tryptophan metabolism UMLS:C4025335 peter 2008-03-17T04:55:00Z human_phenotype owl:Class HP:0031997 biolink:NamedThing Early inspiratory crackles Crackles that appear at the beginning of inspiration and end before mid-inspiration. tmpxe7fu0cj_hp_relaxed.owl 2018-07-15 21:47:37+00:00 Early inspiratory crackles may be observed, for example, in chronic obstructive pulmonary disease (COPD). Crackles in COPD patients are scanty, gravity-independent, usually audible at the mouth, and strongly associated with severe airway obstruction. Crackles start early in inspiration and usually end before the midpoint of inspiration. peter owl:Class HP:0009019 biolink:NamedThing Progressive loss of facial adipose tissue tmpxe7fu0cj_hp_relaxed.owl Facial fat wasting|Progressive loss of facial fat|Facial fat atrophy|Loss of subcutaneous adipose tissue from face, progressive|Atrophy of facial adipose tissue|Progressive loss of facial subcutaneous adipose tissue|Progressive loss of subcutaneous adipose tissue from face UMLS:C1837510 human_phenotype owl:Class HP:0020191 biolink:NamedThing Anterior predominant thick cortex pachygyria Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes. tmpxe7fu0cj_hp_relaxed.owl Pachygyria with cortical thickness > 10 mm anterior predominant robinp 2019-09-03 13:06:53+00:00 owl:Class HP:0012550 biolink:NamedThing Colonic varices The presence of varices (enlarged and convoluted blood vessels) in the colon. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022853 Colonic varices are a rare cause of lower gastrointestinal bleeding, most commonly associated with portal hypertension nd more rarely with congestive heart failure, mesenteric vein thrombosis, pancreatitis with splenic vein thrombosis and adhesions, and mesenteric vein compression. Colonic varices are usually located in the rectosigmoid region and the cecum. peter 2014-01-01T03:54:41Z human_phenotype owl:Class HP:4000009 biolink:NamedThing Kinesiophobia An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury. tmpxe7fu0cj_hp_relaxed.owl 2021-04-25 23:41:10+00:00 robinp owl:Class HP:0020093 biolink:NamedThing Recurrent deep organ abscess formation Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 17:44:58+00:00 robinp owl:Class HP:0000198 biolink:NamedThing Absence of Stensen duct tmpxe7fu0cj_hp_relaxed.owl Missing parotid duct|Agenesis of stensen duct|Failure of development of stensen duct|Agenesis of parotid duct|Absence of parotid duct|Absent stensen duct|Failure of development of parotid duct|Missing stensen duct UMLS:C1858569|UMLS:C4280674 human_phenotype owl:Class HP:0032227 biolink:NamedThing Sebaceous hyperplasia A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola. tmpxe7fu0cj_hp_relaxed.owl 2019-01-26 14:30:41+00:00 peter owl:Class CHEBI:22881 biolink:NamedThing biopterins tmpxe7fu0cj_hp_relaxed.owl MetaCyc:All-Biopterines chebi_ontology owl:Class HP:0002521 biolink:NamedThing Hypsarrhythmia Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). tmpxe7fu0cj_hp_relaxed.owl Hypsarrhythmia by EEG UMLS:C0684276|SNOMEDCT_US:28055006|MSH:D013036 human_phenotype owl:Class HP:0100675 biolink:NamedThing Vaginal pyocele tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022000 "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. doelkens 2010-12-30T01:36:39Z human_phenotype owl:Class HP:0025664 biolink:NamedThing Moderate to late preterm birth Birth at 32 to 36 completed weeks of gestation. tmpxe7fu0cj_hp_relaxed.owl World Health Organization definition. peterrobinson owl:Class HP:0025495 biolink:NamedThing Descending aorta hypoplasia Significant luminal narrowing of a long segment of the descending aorta. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 19:49:11+00:00 Coarctation of the aorta is defined as significant luminal narrowing of the aorta that produces hemodynamically significant obstruction to the flow of blood. This process may affect a short isolated segment of the aorta or a longer and more diffuse segment. When longer segments of the aorta are narrowed, the term hypoplasia is often used. Much less common than segmental coarctation, aortic hypoplasia has been described in all portions of the thoracic and abdominal aorta. HPO:probinson owl:Class HP:0100758 biolink:NamedThing Gangrene A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). tmpxe7fu0cj_hp_relaxed.owl Death of body tissue due to lack of blood flow or infection MSH:D005734|UMLS:C0017086|SNOMEDCT_US:36024000|SNOMEDCT_US:372070002 This may occur after an injury or infection, or in people suffering from any chronic health problem affecting blood circulation. The prime cause of gangrene is reduced blood supply to the affected tissues, which results in cell death. Diabetes and long-term smoking increase the risk of suffering from gangrene. There are different types of gangrene with different symptoms, such as dry gangrene, wet gangrene, gas gangrene, internal gangrene and necrotising fasciitis. Treatment options include debridement (or, in severe cases, amputation) of the affected body parts, antibiotics, vascular surgery, maggot therapy or hyperbaric oxygen therapy. doelkens 2011-06-07T10:19:11Z owl:Class HP:0031603 biolink:NamedThing Impaired nasal mucociliary clearance An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes. tmpxe7fu0cj_hp_relaxed.owl Abnormal saccharine test 2017-10-22 12:44:48+00:00 peter owl:Class HP:0007453 biolink:NamedThing Flexural lichenification Lichenification affecting primarily flexural areas of the skin. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024873 The parts of the skin that touch when a joint flexes (bends) are called the flexural surfaces. human_phenotype owl:Class HP:0011997 biolink:NamedThing Postprandial hyperlactemia Abnormally increased level of blood lactate following a meal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023089 peter 2012-07-19T12:06:39Z human_phenotype owl:Class HP:0006702 biolink:NamedThing Coronary artery dissection Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery. tmpxe7fu0cj_hp_relaxed.owl MSH:C565153|UMLS:C1852540 human_phenotype owl:Class HP:0003339 biolink:NamedThing Pyrimidine-responsive megaloblastic anemia A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid. tmpxe7fu0cj_hp_relaxed.owl Anaemia corrected by uridylic acid and cytidylic acid|Anemia corrected by uridylic acid and cytidylic acid|Pyrimidine-responsive megaloblastic anaemia UMLS:C4021731 human_phenotype owl:Class HP:0025010 biolink:NamedThing Foveal atrophy Partial or complete loss of foveal tissue that was once present. tmpxe7fu0cj_hp_relaxed.owl 2016-08-07 13:52:09+00:00 Loss of foveal tissue (atrophy) may be inferred by a medical history of loss of vision and the observation of a foveal lesion such as reduced foveal thickness on optical coherence tomography (OCT). HPO:probinson owl:Class HP:0031999 biolink:NamedThing Expiratory crackles Crackles that occur during expiration. tmpxe7fu0cj_hp_relaxed.owl 2018-07-15 21:50:28+00:00 Crackles are predominantly inspiratory in nature, but can also occur during expiration. It has been described in COPD, bronchiectasis, and IPF. One theory of the pathogenesis of expritory crackles states that some airways collapse during early expiration and air trapping develops. As expiration progresses, the pressure in the trapped region gradually increase, leading to a widened pressure difference across the airways. Once this pressure difference reaches the critical opening pressure, the airway pops open during expiration, producing crackles. peter owl:Class HP:0011432 biolink:NamedThing High maternal serum alpha-fetoprotein Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy. tmpxe7fu0cj_hp_relaxed.owl High maternal serum alpha-fetoprotein MoM|High MSAFP MoM|MSAFP MoM>2.5|Increased maternal serum alpha-fetoprotein level UMLS:C4023361 Increased levels of maternal serum alpha-fetoprotein is often part of the triple (AFP, Estriol, and human chorionic gonadotropin) or quadruple screening tests (AFP, estriol, human chorionic gonadotropin and Inhibin A) for congenital birth defects. It can be seen in fetal neural tube defects (NTD), abdominal wall defects, congenital renal disease, esophageal atresia, other fetal distress situations (eg, threatened abortion and fetal demise), multiple pregnancy, placental chorioangioma and placental lakes and other fetal and maternal conditions. Association with various adverse pregnancy outcomes reported. Usually assessed in second trimester and values above 2.5 MoM considered as significantly increased. For NTD, a screen-negative result indicates that the calculated alpha-fetoprotein (AFP) multiple of the median (MoM) falls below the established cutoff of 2.50 MoM. A negative screen does not guarantee the absence of neural tube defects. A screen-positive result indicates that the calculated AFP MoM is 2.50 or greater and may indicate an increased risk for open NTD. The actual risk depends on the level of AFP and the individual's pretest risk of having a child with NTD based on family history, geographical location, maternal conditions such as diabetes and epilepsy, and use of folate prior to conception. A screen-positive result does not infer a definitive diagnosis of a NTD but indicates that further evaluation should be considered. Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. peter 2012-03-17T07:45:07Z human_phenotype owl:Class HP:0030596 biolink:NamedThing Abnormal Humphrey SITA 30-2 perimetry test tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073068 owl:Class HP:0012852 biolink:NamedThing Hepatic bridging fibrosis Hepatic fibrosis that reaches from a portal area to another portal area. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022709 hecht 2014-06-07T09:27:43Z human_phenotype owl:Class PATO:0001167 biolink:NamedThing damaged A structural quality inhering in a bearer by virtue of the bearer being harmed or injured or spoiled, such that its functionality is impaired. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0011999 biolink:NamedThing Paranoia A persecutory delusion of supposed hostility of others. tmpxe7fu0cj_hp_relaxed.owl Paranoia MSH:D010259|SNOMEDCT_US:191667009|UMLS:C1456784 peter 2012-07-19T01:00:23Z human_phenotype owl:Class HP:0032308 biolink:NamedThing Increased circulating procalcitonin concentration An elevated concentration of procalcitonin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Increased circulating procalcitonin level 2019-02-14 10:46:33+00:00 Procalcitonin is a 116 amino acid peptide that has an approximate MW of 14.5 kDa and belongs to the calcitonin (CT) superfamily of peptides. It can be divided into 3 sections including the amino terminus of the PCT region, immature calcitonin, and calcitonin carboxyl-terminus peptide-1 (CCP-1). Procalcitonin is encoded by CALC-1 gene located on chromosome 11. Cleavage in 1 site of the primary transcript of CALC-1 gene produces pre-PCT, which further undergoes proteolytic cleavage of its signal sequence to produce PCT. The synthesized PCT then undergoes post-translational processing to produce small peptides and mature CT. PCT is a biomarker that exhibits greater specificity than other proinflammatory markers (eg, cytokines) in identifying patients with sepsis and can be used in the diagnosis of bacterial infections. The short half-life (25-30 hours in plasma) of PCT, coupled with its virtual absence in health and specificity for bacterial infections, gives it a clear advantage over the other markers of bacterial infection. peter owl:Class MAXO:0010359 biolink:NamedThing pulmonary angiography procedure An x-ray imaging technique that involves visualization of the pulmonary vasculature after fluoroscopy-guided catheter placement and injection of an iodinated contrast medium into the pulmonary circulation. tmpxe7fu0cj_hp_relaxed.owl radiograph of pulmonary vascular system|pulmonary vascular system X-ray procedure|radiography of pulmonary vascular system|pulmonary vascular system radiogram procedure 2020-04-07T20:39:14Z NCIT:C154789 http://orcid.org/0000-0001-7941-2961 owl:Class HP:0005877 biolink:NamedThing Multiple small vertebral fractures tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025119 human_phenotype owl:Class HP:0007993 biolink:NamedThing Malformed lacrimal duct Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies. tmpxe7fu0cj_hp_relaxed.owl Malformed tear ducts UMLS:C4024757 human_phenotype owl:Class HP:0012248 biolink:NamedThing Prolonged PR interval Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). tmpxe7fu0cj_hp_relaxed.owl Electrocardiographic long PR interval|Lengthened PR interval on EKG SNOMEDCT_US:164947007|UMLS:C0600125 In adults, normal values are 120 to 200 ms long. peter 2013-04-07T08:52:29Z human_phenotype owl:Class HP:0032235 biolink:NamedThing Anti-La/SS-B antibody positivity The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens. tmpxe7fu0cj_hp_relaxed.owl 2019-01-26 17:16:04+00:00 Anti-Ro/SSA and anti-La/SSB are considered hallmarks of Sjogrens syndrome and are associated with systemic disease, but are also present in the sera of systemic lupus erythematodes patients. The most common antinuclear antibodies in Sjogren patients are those directed against the autoantigens Ro/SSA and La/SSB. The Ro/La particle is a protein-RNA complex formed by the association of the Ro60, and La/SSB proteins with small cytoplasmic RNA (hyRNA). Anti-Ro/SSA and anti-La/SSB antibodies are detected in 50 to 70 percent of primary Sjogren patients. Anti-Ro/SSA and anti-La/SSB antibodies are correlated with younger age at diagnosis, longer disease duration, more severe dysfunction of the exocrine glands, recurrent parotid gland enlargement and higher intensity of the lymphocytic infiltrates in the minor salivary glands. peter owl:Class HP:0003105 biolink:NamedThing Protuberances at ends of long bones The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones. tmpxe7fu0cj_hp_relaxed.owl Protuberances at ends of long bones UMLS:C1851418 human_phenotype owl:Class HP:0100958 biolink:NamedThing Narrow foramen obturatorium Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021910 doelkens 2012-01-18T05:17:14Z human_phenotype owl:Class NBO:0000544 biolink:NamedThing aphagia "A pathological feeding behavior characterised by failure to eat." [NBO:GVG] MP:0001438 tmpxe7fu0cj_hp_relaxed.owl 2011-04-10T10:41:10Z George Gkoutos behavior_ontology owl:Class HP:0100658 biolink:NamedThing Cellulitis A bacterial infection and inflammation of the skin und subcutaneous tissues. tmpxe7fu0cj_hp_relaxed.owl Skin infection|Skin infections|Bacterial infection of skin UMLS:C0162627|SNOMEDCT_US:385627004|SNOMEDCT_US:128045006|MSH:D017192|SNOMEDCT_US:128936008|MSH:D002481|UMLS:C0007642 In contrast to impetigo, which is a very superficial skin infection, cellulitis involves both the dermis and the underlying subcutaneous tissue. doelkens 2010-12-30T10:11:51Z HP:0003553 human_phenotype owl:Class HP:0031366 biolink:NamedThing Palate neoplasm A neoplasm that affects the hard palate, soft palate, or uvula. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 00:52:14+00:00 peter owl:Class HP:0030779 biolink:NamedThing Ethmocephaly Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:55709000|UMLS:C0266680 owl:Class HP:0031687 biolink:NamedThing Abnormally loud pulmonic component of the second heart sound tmpxe7fu0cj_hp_relaxed.owl Accentuation of the pulmonic component of the second heart sound 2017-12-17 21:17:09+00:00 The pulmonic component is considered to be abnormally loud in a subject over age 20 if it is greater than the aortic component in the second left ICS or if it is audible at the cardiac apex. This may be due either to pulmonary artery hypertension or right ventricular dilatation, with part of the right ventricle assuming the position normally occupied by the left ventricle. A split second sound at the apex is, therefore, definitely abnormal. The loud P2 commonly heard at the apex in patients with atrial septal defect is probably due to a dilated right ventricle encroaching upon the cardiac apex [source-NCBI:NBK341]. peter owl:Class HP:0025072 biolink:NamedThing Prominent U wave Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave. tmpxe7fu0cj_hp_relaxed.owl Increased U wave amplitude 2016-09-26 10:42:48+00:00 HPO:probinson owl:Class GO:0006487 biolink:NamedThing protein N-linked glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. tmpxe7fu0cj_hp_relaxed.owl N-glycan biosynthesis|N-glycan metabolism|protein amino acid N-linked glycosylation RESID:AA0156|RESID:AA0151|RESID:AA0327 biological_process owl:Class HP:0010838 biolink:NamedThing High nonceruloplasmin-bound serum copper An increased concentration of non ceruloplasmin bound copper in the blood. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1848459 peter 2010-07-10T07:43:39Z human_phenotype owl:Class HP:0000660 biolink:NamedThing Lipemia retinalis A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0339477|SNOMEDCT_US:95692001 Lipemia retinalis is thought to be directly correlated with the serum triglyceride level; typically, the retinal findings do not occur until the triglyceride level reaches 2500 mg per deciliter (28.2 mmol per liter). human_phenotype owl:Class HP:0033787 biolink:NamedThing Cementum hypoplasia The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth. tmpxe7fu0cj_hp_relaxed.owl Cementum aplasia 2021-05-07 11:07:41+00:00 peter owl:Class HP:0030743 biolink:NamedThing Glial remnants anterior to the optic disc Persistance of a posterior remnant of the hyaloid artery located at the optic disc. tmpxe7fu0cj_hp_relaxed.owl Bergmeister papilla UMLS:C4280791 owl:Class HP:0030175 biolink:NamedThing Myelin tomacula The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage). tmpxe7fu0cj_hp_relaxed.owl Tomacula UMLS:C4020904 Several mechanisms that may lead to the formation of a tomaculum-for example, hypermyelination, redundant loop formation, the presence of a second mesaxon, transnodal myelination, two Schwann cells forming one myelin sheath, and disruption of the myelin sheath. Sural nerve biopsies typically show regions of myelin thickening as well as features of demyelination and remyelination. owl:Class HP:0011834 biolink:NamedThing Moyamoya phenomenon A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023169 Cerebral angiography shows puff-of-smoke (moyamoya) collaterals at the base of the brain. peter 2012-05-05T03:24:26Z human_phenotype owl:Class HP:0034003 biolink:NamedThing Broad medial eyebrow Regional increase in the width (height) of the middle portion of the eyebrow. tmpxe7fu0cj_hp_relaxed.owl Medial broadening of eyebrows 2021-08-22 12:13:23+00:00 peter owl:Class HP:0033851 biolink:NamedThing Oculomotor synkinesis Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction. tmpxe7fu0cj_hp_relaxed.owl 2021-06-02 18:07:36+00:00 peter owl:Class HP:0010530 biolink:NamedThing Palatal myoclonus Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate. tmpxe7fu0cj_hp_relaxed.owl MSH:D009207|UMLS:C0030214|SNOMEDCT_US:9366002 peter 2009-09-20T08:50:17Z human_phenotype owl:Class HP:0002563 biolink:NamedThing Constrictive pericarditis Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:85598007|MSH:D010494|UMLS:C0031048 human_phenotype owl:Class HP:0007449 biolink:NamedThing Confetti-like hypopigmented macules tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851705 human_phenotype owl:Class HP:0001050 biolink:NamedThing Plethora tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:75246004|UMLS:C0232370 Related to polycythemia. human_phenotype owl:Class HP:0006684 biolink:NamedThing Ventricular preexcitation with multiple accessory pathways A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025004 human_phenotype owl:Class HP:0008523 biolink:NamedThing Posterior helix pit Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated. tmpxe7fu0cj_hp_relaxed.owl Helix, posterior pit|Pits in posterior aspect of ear helices|Ear, posterior helical groove|Indentation in back of outer ear|Ear, posterior helical notch UMLS:C4021539 They are usually linear to a narrow oval in shape and may be single or multiple. human_phenotype owl:Class HP:0008097 biolink:NamedThing Partial fusion of tarsals tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844520 human_phenotype owl:Class HP:0003587 biolink:NamedThing Insidious onset Gradual, very slow onset of disease manifestations. tmpxe7fu0cj_hp_relaxed.owl Gradual onset UMLS:C0332164|UMLS:C1298634|SNOMEDCT_US:367326009|SNOMEDCT_US:61751001 owl:Class HP:0500112 biolink:NamedThing Positive urine amphetamine test Detection of amphetamine or its metabolites in urine. tmpxe7fu0cj_hp_relaxed.owl 2018-06-25 16:49:42+00:00 owl:Class HP:0031117 biolink:NamedThing Purely bicuspid aortic valve A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis. tmpxe7fu0cj_hp_relaxed.owl 2017-06-10 11:41:29+00:00 peter owl:Class HP:0031384 biolink:NamedThing Reduced T cell CD40 expression A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes. tmpxe7fu0cj_hp_relaxed.owl 2017-09-02 16:16:13+00:00 This feature can be observed with X-linked Hyper IgM (XHIGM) syndrome. As a consequence of the deficiency in CD40 ligand, T-lymphocytes in patients with XHIGM are unable to instruct B-lymphocytes to switch their production of immunoglobulins from IgM to IgG, IgA and IgE. peter owl:Class HP:0004383 biolink:NamedThing Hypoplastic left heart Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta. tmpxe7fu0cj_hp_relaxed.owl Heart left ventricle hypoplasia|Left ventricular hypoplasia|Underdeveloped left heart UMLS:C0152101|MSH:D018636|SNOMEDCT_US:62067003 Hypoplastic left heart syndrome is an unsatisfactory term describing lethal underdevelopment of the left ventricle (LV). It represents the more severe end of a spectrum of LV hypoplasia, mandating single-ventricle palliation or cardiac transplantation. Less severe borderline ventricular hypoplasia may instead allow various biventricular therapeutic strategies and better long-term outcomes. peter 2008-03-18T08:56:00Z human_phenotype owl:Class HP:0032032 biolink:NamedThing Horizontal eyelid laxity Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present. tmpxe7fu0cj_hp_relaxed.owl 2018-09-01 14:51:32+00:00 peter owl:Class HP:0410307 biolink:NamedThing Positive stool methadone test Detection of methadone and its metabolites in the stool. tmpxe7fu0cj_hp_relaxed.owl 2019-01-28 23:27:34+00:00 owl:Class HP:0001674 biolink:NamedThing Complete atrioventricular canal defect A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. tmpxe7fu0cj_hp_relaxed.owl Atrioventricular canal|Common atrioventricular canal|Complete atrioventricular septal defect|Complete common AV canal Fyler:1120 The complete form of AVC shows an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the interventricular septum inlet. CAVC can be classified into types A, B or C according to the morphology of the common atrioventricular valve. HP:0006697|HP:0001689 owl:Class HP:0032037 biolink:NamedThing Mildly reduced visual acuity Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation). tmpxe7fu0cj_hp_relaxed.owl Mild visual loss|Mild reduction in visual acuity|Mild vision loss 2018-09-01 15:45:56+00:00 A visual acuity of 6/6 signifies that a person can see symbols such as those on a Snellen chart from six meters the same as a person with normal eyesight. A visual acuity of 6/12 signifies that the person can see symbols at 6 meters the same as a person with normal eyesight could at 12 meters. peter owl:Class HP:0033846 biolink:NamedThing Spinal hypomyelination Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis. tmpxe7fu0cj_hp_relaxed.owl 2021-06-01 16:29:58+00:00 peter owl:Class HP:0033960 biolink:NamedThing Cortical radial artery intimal mucoid edema Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. tmpxe7fu0cj_hp_relaxed.owl Intimal mucoid edema within interlobular arterial intima/media 2021-06-24 12:35:18+00:00 peter owl:Class HP:0020078 biolink:NamedThing Alaninuria An increased level of alanine in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased urinary alanine 2019-02-25 13:31:43+00:00 robinp owl:Class HP:0033790 biolink:NamedThing Thistle tube shaped pulp A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations. tmpxe7fu0cj_hp_relaxed.owl Flame-shaped pulp 2021-05-07 11:14:26+00:00 peter owl:Class HP:0100732 biolink:NamedThing Pancreatic fibrosis tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:25942009|UMLS:C0267952 doelkens 2011-06-06T05:06:26Z human_phenotype owl:Class HP:0031473 biolink:NamedThing Hostility Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 16:45:08+00:00 peter owl:Class HP:0100687 biolink:NamedThing Polyotia The presence of an extra auricle on one or both sides of the head. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:35547002|UMLS:C0266611 doelkens 2010-12-30T02:30:14Z human_phenotype owl:Class HP:0008291 biolink:NamedThing Pituitary corticotropic cell adenoma A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH). tmpxe7fu0cj_hp_relaxed.owl ACTH-producing pituitary adenoma|Corticotropin-secreting pituitary adenoma MSH:D049913|UMLS:C1306214|SNOMEDCT_US:254958004|SNOMEDCT_US:21109002 human_phenotype owl:Class HP:0011475 biolink:NamedThing Persistent stapedial artery Persistence of the stapedial artery, which normally regresses during embryonic life. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023339 peter 2012-03-31T08:38:23Z human_phenotype owl:Class HP:0012149 biolink:NamedThing Bilineage myelodysplasia Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023020 peter 2012-09-16T08:39:10Z human_phenotype owl:Class HP:0003269 biolink:NamedThing Sudanophilic leukodystrophy tmpxe7fu0cj_hp_relaxed.owl MSH:D020371|SNOMEDCT_US:64855000|UMLS:C0205711 human_phenotype owl:Class HP:0031024 biolink:NamedThing Cylindroma A benign skin adnexal tumor of eccrine differentiation. tmpxe7fu0cj_hp_relaxed.owl 2017-05-21 13:32:29+00:00 Cylindromas can be single or multiple and commonly involve the scalp (turban tumor) and face. Multiple cylindromas can have a syndromic association as seen in Brooke-Spiegler syndrome and familial cylindromatosis. peter owl:Class HP:0004987 biolink:NamedThing Mesomelic leg shortening Shortening of the middle parts of the leg in relation to the upper and terminal segments. tmpxe7fu0cj_hp_relaxed.owl Mesomelia of the lower limbs|Mesomelic lower limb shortening UMLS:C1969178 human_phenotype owl:Class HP:0030248 biolink:NamedThing Mesenteric venous thrombosis A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine). tmpxe7fu0cj_hp_relaxed.owl Blood clot in mesentertic vein UMLS:C0267412|SNOMEDCT_US:95446005|MSH:D065666 Mesenteric venous thrombosis may be associated with abdominal pain and bloating, diarrhea, fever, gastrointestinal bleeding, and vomiting. owl:Class HP:0012163 biolink:NamedThing Carotid artery dilatation A dilatation (balooning or bulging out of the vessel wall) of a carotid artery. tmpxe7fu0cj_hp_relaxed.owl Carotid artery aneurysm UMLS:C0340639|SNOMEDCT_US:233988005 peter 2013-02-16T10:18:06Z human_phenotype owl:Class HP:0020059 biolink:NamedThing Increased red blood cell count An abnormal elevation above the normal number of red blood cells per volume in the circulation. tmpxe7fu0cj_hp_relaxed.owl Increased RBC count 2018-09-28 23:45:36+00:00 robinp owl:Class HP:0004863 biolink:NamedThing Compensated hemolytic anemia tmpxe7fu0cj_hp_relaxed.owl Compensated hemolytic anaemia UMLS:C4025283 human_phenotype owl:Class HP:0031814 biolink:NamedThing Palilalia Repetition of one's own words or phrases. tmpxe7fu0cj_hp_relaxed.owl 2018-04-28 22:45:49+00:00 peter owl:Class HP:0012292 biolink:NamedThing Fusion of gums A congenital defect with an abnormal joining of the gums of the upper and lower jaw. tmpxe7fu0cj_hp_relaxed.owl Gingival synechia|Upper and lower gums fused together|Fusion of the gingiva|Synechia of the gums|Fusion of gums|Partial fusion of the gums UMLS:C4022966 peter 2013-04-11T05:52:35Z human_phenotype owl:Class HP:0008009 biolink:NamedThing Three rows of eyelashes tmpxe7fu0cj_hp_relaxed.owl Three rows of eyelashes|Triple row of eyelashes UMLS:C1860785 human_phenotype owl:Class HP:0032948 biolink:NamedThing Renal interstitial fibrosis The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. tmpxe7fu0cj_hp_relaxed.owl Tubular atrophy (TA) is defined as loss of specialized transport and metabolic capacity and typically manifested by small tubules with cells with pale cytoplasm or dilated, thin tubules. TA is usually associated with IF, but probably has distinct mechanisms related to blood flow, glomerular filtration rate (GFR) or tubular continuity loss. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). peter owl:Class HP:0031504 biolink:NamedThing Foamy urine Urine has an increased amount of frothy fine bubbles. tmpxe7fu0cj_hp_relaxed.owl Frothy urine 2017-09-18 01:16:55+00:00 peter owl:Class HP:0010521 biolink:NamedThing Gait apraxia Gait apraxia affecting the ability to make walking movements with the legs. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1510417|MSH:D020235|SNOMEDCT_US:30767006 peter 2009-09-20T11:01:35Z human_phenotype owl:Class PR:000005061 biolink:NamedThing catalase A protein that is a translation product of the human CAT gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl Cas-1|CAT|Cas1 Category=gene. protein owl:Class HP:0003095 biolink:NamedThing Septic arthritis tmpxe7fu0cj_hp_relaxed.owl Infected joint SNOMEDCT_US:396234004|UMLS:C0003869|UMLS:C4280547|MSH:D001170|SNOMEDCT_US:372939007 ORCID:0000-0002-5316-1399 human_phenotype owl:Class HP:0012118 biolink:NamedThing Laryngeal carcinoma A carcinoma of the larynx. tmpxe7fu0cj_hp_relaxed.owl Cancer of the larynx|Laryngeal cancer SNOMEDCT_US:276975007|UMLS:C0595989 Laryngeal carcinoma often is related to a history of smoking and may manifest by hoarseness, a lump in the neck, persistent cough, stridor and other symptoms. hecht 2012-09-16T05:28:05Z human_phenotype owl:Class HP:0012171 biolink:NamedThing Stereotypical hand wringing Habitual clasping and squeezing of the hands. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023014 peter 2013-02-20T09:44:45Z human_phenotype owl:Class HP:0025393 biolink:NamedThing Reticulonodular pattern on pulmonary HRCT Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography. tmpxe7fu0cj_hp_relaxed.owl 2017-04-22 13:02:17+00:00 HPO:probinson owl:Class HP:0007010 biolink:NamedThing Poor fine motor coordination An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. tmpxe7fu0cj_hp_relaxed.owl Fine motor impairment|Fine motor skill dysfunction|Impaired fine motor skills|Fine motor disability UMLS:C1867864 human_phenotype owl:Class HP:0004399 biolink:NamedThing Congenital pyloric atresia Congenital atresia of the pylorus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025327 peter 2008-03-18T09:15:00Z human_phenotype owl:Class HP:0032863 biolink:NamedThing Typical absence status epilepticus Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure. tmpxe7fu0cj_hp_relaxed.owl Simple absence status epilepticus This may occur as a consequence of medication withdrawal in absence epilepsy syndromes. peter owl:Class HP:0012570 biolink:NamedThing Synovial sarcoma A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities. tmpxe7fu0cj_hp_relaxed.owl Malignant synovioma SNOMEDCT_US:302851001|UMLS:C0039101|MSH:D013584|SNOMEDCT_US:63211008 Synovial sarcoma is a high-grade tumor that is associated with poor prognosis. peter 2014-01-08T08:47:50Z human_phenotype owl:Class HP:0032629 biolink:NamedThing Intratubular dihydroxyadenuria crystals Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0032628 biolink:NamedThing Renal intratubular crystals tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0430006 biolink:NamedThing Ectopic cilia of eyelid An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:95504004|UMLS:C0521574 owl:Class HP:0032116 biolink:NamedThing Macrosquare-wave jerks Horizontal 10-40 degree excursions from fixation and back again. tmpxe7fu0cj_hp_relaxed.owl 2018-11-17 14:46:33+00:00 peter owl:Class HP:4000010 biolink:NamedThing Impaired renal tubular reabsorption of bicarbonate Decreased renal tubular reabsorption of bicarbonate. tmpxe7fu0cj_hp_relaxed.owl 2021-04-29 17:27:57+00:00 robinp owl:Class HP:0033031 biolink:NamedThing Hyperpyrexia An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit). tmpxe7fu0cj_hp_relaxed.owl Hyperpyrexia is considered a medical emergency and typically results in referral for emergency care. peter owl:Class HP:0031087 biolink:NamedThing Absent pubertal growth spurt The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur. tmpxe7fu0cj_hp_relaxed.owl Absent adolescent growth spurt 2017-05-29 00:29:04+00:00 peter owl:Class HP:0032650 biolink:NamedThing Elevated CSF glial fibrillary acidic protein level Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Elevated CSF glial fibrillary acidic protein levels are considered to be a glial marker of neuroinflammation. peter owl:Class HP:0001094 biolink:NamedThing Iridocyclitis A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body. tmpxe7fu0cj_hp_relaxed.owl MSH:D015863|UMLS:C0022073|SNOMEDCT_US:77971008 human_phenotype owl:Class HP:0011568 biolink:NamedThing Double orifice mitral valve The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0344770|SNOMEDCT_US:253402005 In about 50% of Double orifice mitral valve (DOMV) cases, valvular function is normal, others present with stenosis or regurgitation. In most cases, a larger orifice is accompanied by a small eccentric accessory orifice, and some show duplicated mitral valves. Embryologically, the lesion results from abnormal leaflet fusion and persistence of the left part of the common atrio-ventricular canal. peter 2012-04-08T08:29:48Z human_phenotype owl:Class HP:0002714 biolink:NamedThing Downturned corners of mouth A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. tmpxe7fu0cj_hp_relaxed.owl Downturned corners of mouth|Downturned corners of the mouth|Downturned oral commisures|Downturned mouth UMLS:C1866195 This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms). HP:0000192 human_phenotype owl:Class HP:0032637 biolink:NamedThing Renal interstitial edema Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. tmpxe7fu0cj_hp_relaxed.owl Renal interstitial oedema peter owl:Class HP:0008081 biolink:NamedThing Pes valgus An outward deviation of the foot at the talocalcaneal or subtalar joint. tmpxe7fu0cj_hp_relaxed.owl Valgus foot deformity SNOMEDCT_US:275344002|SNOMEDCT_US:249803006|UMLS:C1578482 Valgus refers to the twisting outward of a bone or joint is twisted outward from the center of the body, whereas varus is a twisting toward the center of the body. human_phenotype owl:Class HP:0012895 biolink:NamedThing Scapular muscle hypertrophy Muscle hypertrophy affecting the scapular muscles. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022688 peter 2014-06-23T11:00:11Z human_phenotype owl:Class HP:0000917 biolink:NamedThing Superior pectus carinatum Pectus carinatum affecting primarily the superior part of the sternum. tmpxe7fu0cj_hp_relaxed.owl Pectus carinatum superiorly UMLS:C1864795 human_phenotype owl:Class HP:0100284 biolink:NamedThing EMG: myotonic discharges High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022169 doelkens 2010-08-10T01:02:13Z human_phenotype owl:Class HP:0010632 biolink:NamedThing Total anosmia Inability to detect any qualitative olfactory sensation. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023768 peter 2009-12-06T07:51:50Z owl:Class HP:0001054 biolink:NamedThing Numerous nevi tmpxe7fu0cj_hp_relaxed.owl Numerous moles|Multiple pigmented nevi UMLS:C1849677 human_phenotype owl:Class HP:0003704 biolink:NamedThing Scapuloperoneal weakness tmpxe7fu0cj_hp_relaxed.owl Neurogenic scapuloperoneal syndrome UMLS:C1842161 human_phenotype owl:Class HP:0032002 biolink:NamedThing Orange urine An abnormal orange color of urine. tmpxe7fu0cj_hp_relaxed.owl 2018-07-15 21:59:12+00:00 peter owl:Class HP:0033791 biolink:NamedThing Tooth ankylosis Fusion of a tooth with alveolar bone. tmpxe7fu0cj_hp_relaxed.owl 2021-05-07 11:24:36+00:00 Ankylosis is uncommon in the deciduous dentition and very rare in the permanent dentition. It may be observed after trauma. Ankylosis may occur at the crown or root level. peter owl:Class CHEBI:52424 biolink:NamedThing EC 3.2.1.* (glycosidase) inhibitor An EC 3.2.* (glycosylase) inhibitor that interferes with the action of any glycosidase (i.e. enzymes hydrolysing O- and S-glycosyl compounds, EC 3.2.1.*). tmpxe7fu0cj_hp_relaxed.owl glycoside hydrolase inhibitors|glycosidase inhibitor|EC 3.2.1.* (glycosidase) inhibitors|glycosidase (EC 3.2.1.*) inhibitors|glycosidase (EC 3.2.1.*) inhibitor|EC 3.2.1.* inhibitors|EC 3.2.1.* inhibitor|glycosidase inhibitors CHEBI:76776 chebi_ontology owl:Class HP:5000025 biolink:NamedThing Anti-mGluR5 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5). tmpxe7fu0cj_hp_relaxed.owl Anti-Metabotropic Glutamate Receptor Type 5 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0011671 biolink:NamedThing Interrupted inferior vena cava with azygous continuation Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023237|ICD-10:26.8 peter 2012-04-09T12:04:06Z human_phenotype owl:Class HP:0032338 biolink:NamedThing Oligoclonal elevation of circulating IgE An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. tmpxe7fu0cj_hp_relaxed.owl 2019-02-18 14:16:26+00:00 peter owl:Class HP:0025630 biolink:NamedThing Argininosuccinic aciduria Increased amount of argininosuccinate in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-04-09 00:55:15+00:00 rgininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characterised by hyperammonaemia, multiorgan disease and neurocognitive impairment. HPO:probinson owl:Class HP:0011763 biolink:NamedThing Pituitary carcinoma A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:128665000|SNOMEDCT_US:254955001|MSH:D010911|UMLS:C0346300 peter 2012-04-22T03:52:30Z human_phenotype owl:Class HP:0012035 biolink:NamedThing Steatocystoma multiplex Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities). tmpxe7fu0cj_hp_relaxed.owl UMLS:C0259771|SNOMEDCT_US:109433009|MSH:D062685 Steatocystoma multiplex can present with localized, generalized, facial, acral, or suppurative involvement. peter 2012-07-27T01:45:14Z human_phenotype owl:Class HP:0003492 biolink:NamedThing High urinary gonadotropin level An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025606 'has part' some ('increased amount' and ('inheres in' some ('Gonadotropin (adult human)' and ('part of' some urine))) and ('has modifier' some abnormal)) human_phenotype owl:Class HP:0011758 biolink:NamedThing Pituitary acidophilic stem cell adenoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023201 peter 2012-04-22T03:03:47Z human_phenotype owl:Class HP:0002909 biolink:NamedThing Generalized aminoaciduria An increased concentration of all types of amino acid in the urine. tmpxe7fu0cj_hp_relaxed.owl Generalised nonspecific aminoaciduria|Generalised aminoaciduria|Generalized nonspecific aminoaciduria UMLS:C1847868 This abnormality is distinct from aminoacidurias in which the urinary concentration of a single amino acid, or a of single group of amino acids, is increased. HP:0008317|HP:0008284 owl:Class HP:0031624 biolink:NamedThing Moderate myopia A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters. tmpxe7fu0cj_hp_relaxed.owl 2017-12-16 14:07:21+00:00 peter owl:Class HP:0031751 biolink:NamedThing Lateral rectus muscle underaction Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:23:28+00:00 peter owl:Class HP:0001818 biolink:NamedThing Paronychia The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). tmpxe7fu0cj_hp_relaxed.owl MEDDRA:10034016|UMLS:C0030578|SNOMEDCT_US:71906005|MSH:D010304 human_phenotype owl:Class HP:0000716 biolink:NamedThing Depression Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior. tmpxe7fu0cj_hp_relaxed.owl Depression|Depressive disorder|Depressivity UMLS:C0011581|SNOMEDCT_US:35489007|MSH:D003866|SNOMEDCT_US:21061000119107|SNOMEDCT_US:78667006 owl:Class HP:0012423 biolink:NamedThing Colonic inertia The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1257861|MSH:D003248 peter 2013-11-11T08:04:46Z human_phenotype owl:Class HP:0008488 biolink:NamedThing Anterior rounding of vertebral bodies tmpxe7fu0cj_hp_relaxed.owl UMLS:C1850043 human_phenotype owl:Class HP:0012350 biolink:NamedThing Decreased sialylation of N-linked protein glycosylation Decreased addition of sialic acids to N-linked glycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022941 peter 2013-09-15T10:14:42Z human_phenotype owl:Class HP:4000004 biolink:NamedThing Myocardial late gadolinium enhancement Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium. tmpxe7fu0cj_hp_relaxed.owl Delayed myocardial gadolinium enhancement 2021-04-24 14:43:32+00:00 LGE can be detected in post-infarct scars, inflammation, as well as non-ischemic CMP, cardiac neoplasm and storage diseases such as amyloidosis. robinp owl:Class HP:0005069 biolink:NamedThing Rhizo-meso-acromelic limb shortening tmpxe7fu0cj_hp_relaxed.owl UMLS:C2673654 human_phenotype owl:Class HP:0012065 biolink:NamedThing Multiple bony cystic lesions Presence of multiple cystic changes in multiple areas or multiple bones. tmpxe7fu0cj_hp_relaxed.owl Multiple bony cystic lesions UMLS:C4023063 hecht 2012-08-03T02:45:09Z human_phenotype owl:Class MAXO:0010316 biolink:NamedThing brain CT The use of computed tomography to produce images of structures of the brain. tmpxe7fu0cj_hp_relaxed.owl brain computed tomography|CT of brain|brain CAT scan|brain CT examination|brain computerized axial tomography|CAT scan of brain 2020-03-31T20:39:14Z http://orcid.org/0000-0001-7941-3010 owl:Class HP:0020164 biolink:NamedThing Ophthalmic artery occlusion A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-06 21:05:14+00:00 owl:Class HP:0001684 biolink:NamedThing Secundum atrial septal defect A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. tmpxe7fu0cj_hp_relaxed.owl Patent ostium secundum|Atrial septal defect, ostium secundum type|Ostium secundum atrial septal defect Fyler:2000|MSH:D006344|UMLS:C0344724|ICD-10:Q21.1|SNOMEDCT_US:204315000 HP:0200131 human_phenotype owl:Class HP:0030463 biolink:NamedThing Asymmetrical distribution of flash visual evoked potentials tmpxe7fu0cj_hp_relaxed.owl Crossed asymmetry of flash visual evoked potentials UMLS:C4072953 owl:Class HP:0012166 biolink:NamedThing Skin-picking Repetitive and compulsive picking of skin which results in tissue damage. tmpxe7fu0cj_hp_relaxed.owl Dermatillomania|Compulsive skin picking ICD-10:F63.3|UMLS:C1696701 peter 2013-02-20T07:12:33Z human_phenotype owl:Class HP:0100762 biolink:NamedThing Hemobilia Bleeding into the biliary tree. tmpxe7fu0cj_hp_relaxed.owl Haemobilia UMLS:C0018994|MSH:D006431|SNOMEDCT_US:66556007 doelkens 2011-06-07T10:36:09Z human_phenotype owl:Class HP:0032105 biolink:NamedThing Macrosaccadic oscillations A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern. tmpxe7fu0cj_hp_relaxed.owl Macrosaccadic oscillation 2018-11-04 23:04:28+00:00 Macrosaccadic oscillation is usually observed in acute damage to the dorsal cerebellum involving the deep cerebellar nuclei, as in demyelination, tumour or haematoma. peter HP:0032117 owl:Class HP:0008265 biolink:NamedThing Mitochondrial lysine transport defect tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024715 human_phenotype owl:Class HP:0025464 biolink:NamedThing Increased reactive oxygen species production An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage. tmpxe7fu0cj_hp_relaxed.owl Oxidative stress|Increased ROS production 2017-05-07 11:19:52+00:00 HPO:probinson owl:Class HP:0007230 biolink:NamedThing Decreased distal sensory nerve action potential A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024920 owl:Class HP:0033088 biolink:NamedThing Valinuria Urine valine level above the normal range. tmpxe7fu0cj_hp_relaxed.owl Increased valine in urine peter owl:Class CL:1001593 biolink:NamedThing parathyroid glandular cell Glandular cell of parathyroid epithelium. Example: Parathyroid chief cell and parathyroid oxyphil cells. tmpxe7fu0cj_hp_relaxed.owl parathyroid gland glandular cell|parathyroid gland glandular cells CALOHA:TS-1279 owl:Class HP:0004622 biolink:NamedThing Progressive intervertebral space narrowing A progressive form of decreased height of the intervertebral disk. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1837670 human_phenotype owl:Class HP:0200094 biolink:NamedThing Frontal open bite tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857012 sebastiankohler 2013-06-04T03:04:44Z human_phenotype owl:Class UBERON:0015717 biolink:NamedThing smooth muscle tissue layer of ejaculatory duct A smooth muscle tissue that is part of a ejaculatory duct. tmpxe7fu0cj_hp_relaxed.owl muscle layer of ejaculatory duct EMAPA:32289|FMA:19372 uberon owl:Class HP:0033842 biolink:NamedThing Early satiety The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food. tmpxe7fu0cj_hp_relaxed.owl Feeling full quickly when eating|Not able to finish a normal-sized meal 2021-05-30 20:36:13+00:00 peter owl:Class HP:0032838 biolink:NamedThing Neonatal unilateral epileptic spasm Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0005090 biolink:NamedThing Lateral femoral bowing A lateral bending or abnormal curvature of the femur. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1866737 HP:0005022 human_phenotype owl:Class HP:0001039 biolink:NamedThing Atheroeruptive xanthoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025807 human_phenotype owl:Class HP:0032828 biolink:NamedThing Neonatal bilateral symmetric tonic seizure Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0031432 biolink:NamedThing Persistent repetition of actions Repeated and inappropriate mechanical repetition of actions. tmpxe7fu0cj_hp_relaxed.owl 2017-09-16 12:17:41+00:00 peter owl:Class HP:0031787 biolink:NamedThing Oblique astigmatism Astigmatism in which the refractive power of the vertical meridian is the greatest. tmpxe7fu0cj_hp_relaxed.owl 2018-01-28 13:31:31+00:00 peter owl:Class HP:0410312 biolink:NamedThing Hypersegmentation of neutrophil nuclei in CSF An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid. tmpxe7fu0cj_hp_relaxed.owl Hypersegmentation of neutrophil nuclei in cerebrospinal fluid owl:Class HP:0033646 biolink:NamedThing Absent hippocampal commissure Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum. tmpxe7fu0cj_hp_relaxed.owl Agenesis of the hippocampal commissure 2021-02-24 12:45:21+00:00 peter owl:Class HP:0033074 biolink:NamedThing Steroid-responsive anemia Amelioration of anemia upon treatment with a steroid medication. tmpxe7fu0cj_hp_relaxed.owl Prednisone-responsive anemia|Prednisone-responsive anaemia|Steroid-responsive anaemia peter owl:Class HP:0031236 biolink:NamedThing Predominantly dermal neutrophilic infiltrate Collection of neutrophils in the dermis. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 19:38:07+00:00 peter owl:Class HP:0033077 biolink:NamedThing Increased circulating free T4 level An elevated concentration of free thyroxine (fT4) in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0100300 biolink:NamedThing Desmin bodies tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022158 doelkens 2010-08-10T02:28:49Z human_phenotype owl:Class HP:0011321 biolink:NamedThing Left unilambdoid synostosis Premature synostosis of only the left lambdoid suture. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023415 peter 2012-02-25T01:13:46Z human_phenotype owl:Class HP:0040245 biolink:NamedThing Reduced alpha-2-antiplasmin activity Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280703 This term has been requested and created by members of the BRIDGE consortium owl:Class HP:0040222 biolink:NamedThing Maternal thrombophilia An increased tendency towards thrombosis in the mother during a pregnancy. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280721 Maternal thrombophilia has been linked to an increased incidence of placental abruption, as well as other adverse pregnancy outcomes. It is believed that the increased obstetrical risk is mediated through placental vascular dysfunction. Placental thrombosis can then result in subsequent ischemic complications, such as fetal loss, preeclampsia, and fetal growth restriction. Placental abruption has been identified as being part of the spectrum of ischemic placental disease and is postulated to be a chronic disease process (PMID:25401392). owl:Class HP:0007802 biolink:NamedThing Granular corneal dystrophy The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0018179|MSH:D003317|SNOMEDCT_US:45283008 human_phenotype owl:Class HP:0011585 biolink:NamedThing Thoracic ectopia cordis Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023284 peter 2012-04-08T01:13:18Z human_phenotype owl:Class HP:0030515 biolink:NamedThing Moderately reduced visual acuity Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation). tmpxe7fu0cj_hp_relaxed.owl Moderate reduction in visual acuity|Moderate visual loss|Moderate visual impairment|Moderate vision loss SNOMEDCT_US:397542006|UMLS:C1301510 owl:Class HP:0031141 biolink:NamedThing Increased hepatic echogenicity Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device. tmpxe7fu0cj_hp_relaxed.owl Hyperechogenic liver 2017-06-11 19:19:59+00:00 peter owl:Class HP:0011178 biolink:NamedThing Alpha-EEG EEG dominated by diffuse alpha-waves (8-13Hz). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023494 Alpha-EEG is a rare finding but not generally pathologic. hecht 2011-11-19T10:23:53Z human_phenotype owl:Class HP:0000070 biolink:NamedThing Ureterocele A ureterocele is a congenital saccular dilatation of the distal segment of the ureter. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:12818004|UMLS:C0041960|MSH:D014518 owl:Class HP:0011594 biolink:NamedThing Right aortic arch with retroesophageal diverticulum of Kommerell Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023279 peter 2012-04-08T02:07:10Z human_phenotype owl:Class HP:0100282 biolink:NamedThing Acute colitis An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum). tmpxe7fu0cj_hp_relaxed.owl UMLS:C2118460 doelkens 2010-08-10T09:26:33Z human_phenotype owl:Class HP:0030091 biolink:NamedThing Absent muscle fiber merosin Lack of merosin protein in the muscle biopsy. tmpxe7fu0cj_hp_relaxed.owl Absent muscle fiber laminin alpha 2|Absent muscle fibre laminin alpha 2|Absent merosin staining in muscle biopsy|Absent muscle fibre merosin UMLS:C4021055 owl:Class HP:0025171 biolink:NamedThing Rosette-forming glioneuronal tumor A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy. tmpxe7fu0cj_hp_relaxed.owl Rosette-forming glioneuronal tumor of the fourth ventricle|Rosette-forming glioneuronal tumour of the fourth ventricle|Rosette-forming glioneuronal neoplasm|Rosette-forming glioneuronal tumour 2016-12-04 14:35:51+00:00 HPO:probinson owl:Class HP:0025381 biolink:NamedThing Anti-pituitary antibody positivity Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function. tmpxe7fu0cj_hp_relaxed.owl 2017-04-20 10:52:38+00:00 The presence of autoantibodies (immunoglobulins) in the serum that react against pituitary tissue. HPO:probinson owl:Class UBERON:0012377 biolink:NamedThing muscle layer of jejunum A muscular coat that is part of a jejunum. tmpxe7fu0cj_hp_relaxed.owl smooth muscle of jejunum|jejunal smooth muscle|muscularis externa of jejunum|muscularis propria of jejunum FMA:14951 uberon owl:Class HP:0033478 biolink:NamedThing Increased circulating lipoprotein lipase concentration Increased concentration of lipoprotein lipase in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated lipoprotein lipase level 2021-01-09 22:56:12+00:00 peter owl:Class MPATH:476 biolink:NamedThing telangiectasia A lesion formed by a dilated capillary or terminal artery. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0001046 biolink:NamedThing Intermittent jaundice Jaundice that is sometimes present, sometimes not. tmpxe7fu0cj_hp_relaxed.owl Intermittent icterus|Intermittent yellow skin|Intermittent yellowing of skin UMLS:C4025805 human_phenotype owl:Class HP:0008338 biolink:NamedThing Partial functional complement factor D deficiency A partial reduction in level of the complement component Factor D in circulation. tmpxe7fu0cj_hp_relaxed.owl Partial functional adipsin deficiency|Partial functional factor d deficiency UMLS:C4024699 human_phenotype owl:Class HP:0003562 biolink:NamedThing Abnormal metaphyseal vascular invasion tmpxe7fu0cj_hp_relaxed.owl UMLS:C3277127 human_phenotype owl:Class HP:0033369 biolink:NamedThing Cavitating leukodystrophy A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity. tmpxe7fu0cj_hp_relaxed.owl 2020-12-16 12:10:16+00:00 peter owl:Class HP:0007738 biolink:NamedThing Uncontrolled eye movements tmpxe7fu0cj_hp_relaxed.owl UMLS:C1854686 human_phenotype owl:Class HP:0008940 biolink:NamedThing Generalized lymphadenopathy A generalized form of lymphadenopathy. tmpxe7fu0cj_hp_relaxed.owl Swollen lymph nodes affecting all regions of the body|Generalised swelling of lymph nodes|Generalized swelling of lymph nodes|Generalised lymphadenopathy UMLS:C0476486|SNOMEDCT_US:274741002 human_phenotype owl:Class HP:0034006 biolink:NamedThing Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation. tmpxe7fu0cj_hp_relaxed.owl 2021-08-22 16:26:40+00:00 peter owl:Class HP:0012442 biolink:NamedThing Gallbladder dyskinesia Reduced motility of the gallbladder with reduced emptying fraction. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1449631|MSH:D001657 Patients with this gallbladder dyskinesia present with biliary-type pain but no evidence of gallstones in the gallbladder. The diagnosis is made by performing a radionuclide investigation of the gallbladder ejection fraction. An abnormal gallbladder ejection fraction has a value less than 40 percent. peter 2013-11-23T02:28:07Z human_phenotype owl:Class HP:0020163 biolink:NamedThing Cilioretinal artery occlusion Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-06 21:01:57+00:00 owl:Class HP:0012523 biolink:NamedThing Oral aversion Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing). tmpxe7fu0cj_hp_relaxed.owl UMLS:C3665983 peter 2013-12-14T09:18:51Z human_phenotype owl:Class HP:0034051 biolink:NamedThing Hypoplastic anterior limbs of the internal capsule Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule. tmpxe7fu0cj_hp_relaxed.owl 2021-10-19 17:09:38+00:00 peter owl:Class HP:0031746 biolink:NamedThing Superior rectus muscle restriction Mechanical limitation of the range of movement of the superior rectus muscle. tmpxe7fu0cj_hp_relaxed.owl 2018-01-21 14:13:01+00:00 In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. peter owl:Class HP:0032014 biolink:NamedThing Dysmetric vertical saccades Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction. tmpxe7fu0cj_hp_relaxed.owl 2018-07-22 16:29:12+00:00 peter owl:Class HP:0500106 biolink:NamedThing Isolated systolic hypertension Elevated systolic blood pressure without an elevated blood pressure. tmpxe7fu0cj_hp_relaxed.owl 2018-06-22 14:04:14+00:00 Isolated systolic hypertension or an elevated systolic blood pressure without an elevated diastolic blood pressure is a known risk factor for incident heart failure in older adults. owl:Class HP:0032024 biolink:NamedThing Ileal ulcer An erosion of the mucous membrane in a portion of the ileum. tmpxe7fu0cj_hp_relaxed.owl 2018-09-01 14:06:31+00:00 peter owl:Class HP:0000054 biolink:NamedThing Micropenis Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. tmpxe7fu0cj_hp_relaxed.owl Small penis|Short penis UMLS:C4551492|SNOMEDCT_US:34911001 HP:0000038 owl:Class HP:0030833 biolink:NamedThing Neck pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. tmpxe7fu0cj_hp_relaxed.owl Neck pain MSH:D019547|SNOMEDCT_US:81680005|UMLS:C0007859 owl:Class HP:0033824 biolink:NamedThing Pleural mass A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). tmpxe7fu0cj_hp_relaxed.owl 2021-05-09 12:26:15+00:00 peter owl:Class HP:0010971 biolink:NamedThing Absence of Lutheran antigen on erythrocytes Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023619 peter 2011-02-06T12:40:21Z human_phenotype owl:Class HP:0033304 biolink:NamedThing Elevated urine 4-hydroxyphenylacetic acid level Increased amount of 4-hydroxyphenylacetic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 22:07:57+00:00 peter owl:Class HP:0011126 biolink:NamedThing Nephroptosis A significant descent of the kidney as the patient moves from the supine to the erect position. tmpxe7fu0cj_hp_relaxed.owl Floating kidney|Renal ptosis UMLS:C1384594 Nephroptosis is diagnosed if the descent of the kidney is greater than 5 cm or two vertebral bodies on intravenous urogram. The kidney is capable of moving back to the normal position, which differentiates it from an ectopic kidney, which constantly remains in an abnormal position. Nephroptosis may be asymptomatic or may cause symptoms including pain and intermittent ureteric obstruction with hydronephrosis, and ischemia due to elongation, narrowing, or kinking of a renal artery. peter 2011-06-16T07:34:25Z human_phenotype owl:Class HP:0020174 biolink:NamedThing Refractory drug response Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course. tmpxe7fu0cj_hp_relaxed.owl Drug resistance robinp 2019-07-06 21:47:57+00:00 owl:Class HP:0033622 biolink:NamedThing Migratory erythematous plaque A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 23:00:04+00:00 peter owl:Class HP:0010794 biolink:NamedThing Impaired visuospatial constructive cognition Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023701 The ability to see an object or picture as a set of parts and then to construct a replica of the original from these parts is known as visuospatial constructive cognition. Impaired visuospatial constructive cognition is one of the characteristic featrues of most patients with Williams-Beuren Syndrome. sandra1 2010-05-10T01:43:01Z human_phenotype owl:Class HP:0030996 biolink:NamedThing Megaduodenum Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum. tmpxe7fu0cj_hp_relaxed.owl 2017-05-13 14:10:04+00:00 Megaduodenum may present with a feeling of gastric fullness, epigastric pain, belching, heartburn, and nausea with vomiting. peter owl:Class HP:0002835 biolink:NamedThing Aspiration Inspiration of a foreign object into the airway. tmpxe7fu0cj_hp_relaxed.owl Pulmonary aspiration UMLS:C0700198|SNOMEDCT_US:413585005|UMLS:C2712334|SNOMEDCT_US:68052005 human_phenotype owl:Class HP:0012576 biolink:NamedThing Glomerular C3 deposition The presence of complement 3 deposits in the glomerulus. tmpxe7fu0cj_hp_relaxed.owl Renal C3 deposition|C3 nephropathy UMLS:C4022837 peter 2014-01-16T01:08:21Z human_phenotype owl:Class HP:0032077 biolink:NamedThing Male urethral meatus stenosis An abnormal narrowing of the urethral opening (meatus) of the penis. tmpxe7fu0cj_hp_relaxed.owl Meatal stenosis|Meatus stenosis 2018-10-14 13:40:16+00:00 If the sex is not indicated, meatal stenosis is generally taken to refer to males, and thus we list this term as an exact synonym. peter owl:Class HP:0001658 biolink:NamedThing Myocardial infarction Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. tmpxe7fu0cj_hp_relaxed.owl Heart attack|MI UMLS:C0027051|SNOMEDCT_US:22298006|MSH:D009203 owl:Class HP:0031960 biolink:NamedThing Arm dystonia A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms. tmpxe7fu0cj_hp_relaxed.owl 2018-07-07 14:24:40+00:00 peter owl:Class HP:0007793 biolink:NamedThing Granular macular appearance Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea. tmpxe7fu0cj_hp_relaxed.owl Macular retinal pigment epithelial mottling UMLS:C4024799 human_phenotype owl:Class NBO:0000602 biolink:NamedThing apathy "Exhibiting indifference, or suppression of emotions such as concern, excitement, motivation and passion." [wikipedia:Indifference_(emotion)] HP:0000741 tmpxe7fu0cj_hp_relaxed.owl perfunctoriness|impassivity 2011-04-14T03:07:51Z George Gkoutos behavior_ontology owl:Class HP:0045047 biolink:NamedThing HbS hemoglobin Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography. tmpxe7fu0cj_hp_relaxed.owl HbS haemoglobin UMLS:C0019043|MSH:D006451|SNOMEDCT_US:50095005 owl:Class HP:0007813 biolink:NamedThing Nongranulomatous uveitis A form of uveitis that is not associated with the formation of granulomas. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024795 human_phenotype owl:Class HP:0030401 biolink:NamedThing Abnormal platelet dense granule ATP/ADP ratio Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072934 owl:Class HP:0012060 biolink:NamedThing Acral lentiginous melanoma A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0346037|SNOMEDCT_US:16974005|SNOMEDCT_US:254732008 peter 2012-08-01T02:17:02Z human_phenotype owl:Class HP:0003265 biolink:NamedThing Neonatal hyperbilirubinemia A type of hyperbilirubinemia with neonatal onset. tmpxe7fu0cj_hp_relaxed.owl High blood bilirubin levels in neonate|Hyperbilirubinemia, neonatal UMLS:C0857007|MSH:D051556|SNOMEDCT_US:281610001 HP:0008152 human_phenotype owl:Class HP:0011626 biolink:NamedThing Scimitar anomaly Right pulmonary venous return to the inferior vena cava. tmpxe7fu0cj_hp_relaxed.owl Pulmonary venolobar syndrome|Scimitar syndrome MSH:D012587|SNOMEDCT_US:39905002|ICD-10:Q26.8|SNOMEDCT_US:111323005|UMLS:C0036400 peter 2012-04-08T09:57:11Z human_phenotype owl:Class HP:0007065 biolink:NamedThing Disorganization of the anterior cerebellar vermis tmpxe7fu0cj_hp_relaxed.owl Disorganisation of the anterior cerebellar vermis UMLS:C1845369 owl:Class HP:0034081 biolink:NamedThing Anti-Th/To antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To. tmpxe7fu0cj_hp_relaxed.owl 2021-12-19 02:30:26+00:00 peter owl:Class HP:0002041 biolink:NamedThing Intractable diarrhea tmpxe7fu0cj_hp_relaxed.owl Intractable diarrhoea UMLS:C0743178 human_phenotype owl:Class HP:0011310 biolink:NamedThing Bridged palmar crease A crease that connects the proximal and distal transverse palmar creases. tmpxe7fu0cj_hp_relaxed.owl Transitional palmar crease|Bridged palm line UMLS:C4021166 The crease that connects the two transverse creases should itself be more in the transverse (antero-posterior) than longitudinal (proximo-distal) orientation. hecht 2012-02-12T12:56:40Z human_phenotype owl:Class HP:0025213 biolink:NamedThing Triggered by galactose ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose. tmpxe7fu0cj_hp_relaxed.owl Triggered by ingestion of lactose-containing milk 2016-12-10 13:51:49+00:00 HPO:probinson owl:Class UBERON:0005666 biolink:NamedThing 4th arch endoderm An endoderm that is part of a pharyngeal arch 4. tmpxe7fu0cj_hp_relaxed.owl 4th pharyngeal arch endoderm RETIRED_EHDAA2:0000095|VHOG:0001092|EMAPA:16767|EMAPA:16765|EMAPA:16769|EHDAA2:0004033 uberon owl:Class In all vertebrates, the pharyngeal apparatus develops from a series of bulges found on the lateral surface of the head, the pharyngeal arches, which consist of a number of different embryonic cell types. Each arch has an external covering of ectoderm and inner covering of endoderm, and between these a mesenchymal filling of neural crest with a central core of mesoderm.[well established][VHOG] HP:0011336 biolink:NamedThing Bitemporal forceps marks Bilateral temporal scarlike defects, which are said to resemble forceps marks. tmpxe7fu0cj_hp_relaxed.owl Congenital ectodermal dysplasia of the face|Bitemporal aplasia cutis congenita|Focal facial dermal dysplasia|Temporal skin defect|Congenital, bilateral, scarlike facial lesions UMLS:C4023409|UMLS:C4020754 Congenital, bilateral, scarlike facial lesions have been reported under several titles, such as hereditary symmetric systemic aplastic nevi, congenital ectodermal dysplasia of the face, familial focal facial dermal dysplasia, bitemporal aplasia cutis congenita, and focal facial dermal dysplasia (FFDD). The findings are congenital, bilateral scarlike facial lesions in the preauricular or cheek areas. The lesions may present as slightly depressed hypopigmented scarlike oval plaques measuring about 1 cm and may have a surrounding rim of fine lanugo-like hair. Skin biopsy can reveal an atrophic epidermis with a thinned dermis devoid of adnexal structures. Elastic fibers are absent in the affected areas, as can be shown by Verhoeff-van Giesen staining. peter 2012-02-25T05:25:36Z human_phenotype owl:Class HP:0010227 biolink:NamedThing Pseudoepiphysis of the 5th metacarpal The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023957 doelkens 2009-07-02T04:13:20Z human_phenotype owl:Class CHEBI:47774 biolink:NamedThing low-density lipoprotein cholesterol Cholesterol esters and free cholesterol which are contained in or bound to low-density lipoproteins (LDL). tmpxe7fu0cj_hp_relaxed.owl LDL-C|beta-lipoprotein cholesterol|LDL cholesterol chebi_ontology owl:Class HP:0031045 biolink:NamedThing Acral blistering Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet). tmpxe7fu0cj_hp_relaxed.owl 2017-05-27 14:02:49+00:00 peter owl:Class HP:0010508 biolink:NamedThing Metatarsus valgus A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4082144|MSH:D000070591 peter 2009-09-19T09:59:48Z human_phenotype owl:Class HP:0012584 biolink:NamedThing Bilateral renal hypoplasia Two sided hypoplasia of the kidney. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:268232000|UMLS:C0431692 peter 2014-01-16T03:16:03Z human_phenotype owl:Class HP:0006964 biolink:NamedThing Cerebral cortical neurodegeneration tmpxe7fu0cj_hp_relaxed.owl UMLS:C1859863 human_phenotype owl:Class HP:0100844 biolink:NamedThing Pancreatic fistula tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:25803005|MSH:D010185|UMLS:C0030290 doelkens 2011-06-09T06:50:10Z human_phenotype owl:Class HP:0410224 biolink:NamedThing Increased anti-bacteria IgE antibody level Increased level of IgE antibody against bacteria. tmpxe7fu0cj_hp_relaxed.owl Increased level of anti-bacteria IgE antibody 2018-10-03 16:52:57+00:00 owl:Class HP:0012794 biolink:NamedThing Periventricular white matter hypodensities Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. tmpxe7fu0cj_hp_relaxed.owl Periventricular cerebral white matter hypodensities UMLS:C4022720 See also defintion for "Deep white matter hypodensities". These two entities are in contra-distinction to each other. peter 2014-04-25T03:00:01Z human_phenotype owl:Class HP:0011416 biolink:NamedThing Placental infarction tmpxe7fu0cj_hp_relaxed.owl Placental thromboembolism SNOMEDCT_US:268585006|UMLS:C0554393 peter 2012-03-15T10:11:39Z human_phenotype owl:Class HP:0032143 biolink:NamedThing Burning mouth An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa. tmpxe7fu0cj_hp_relaxed.owl 2018-11-22 15:36:33+00:00 This term implies that there is no obvious oral mucosal lesion causing the pain. peter owl:Class HP:0008695 biolink:NamedThing Transient nephrotic syndrome tmpxe7fu0cj_hp_relaxed.owl Transient nephrosis UMLS:C4024638 owl:Class HP:0030933 biolink:NamedThing 1-minute APGAR score of 6 tmpxe7fu0cj_hp_relaxed.owl 2016-11-07 18:16:41+00:00 robinp owl:Class HP:4000043 biolink:NamedThing Greenstick fracture A type of fracture in which the broken bone is not completely separated. tmpxe7fu0cj_hp_relaxed.owl Incomplete fracture 2021-05-02 20:49:30+00:00 robinp owl:Class CHEBI:37527 biolink:NamedThing acid An acid is a molecular entity capable of donating a hydron (Bronsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid). tmpxe7fu0cj_hp_relaxed.owl Saeure|acid|Acid|acids|acide|acido|Saeuren KEGG:C00174 CHEBI:22209|CHEBI:13801|CHEBI:13800|CHEBI:2426 chebi_ontology owl:Class HP:0033427 biolink:NamedThing Pulmonary capillary angioectasia Focal accumulation of dilated pulmonary capillaries. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 17:45:06+00:00 peter owl:Class HP:0012360 biolink:NamedThing Decreased fucosylation of O-linked protein glycosylation A reduction of the addition of fucose sugar units to O-linked glycans. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022931 peter 2013-09-15T10:33:00Z human_phenotype owl:Class HP:0025286 biolink:NamedThing Aggravated by activity Applied to a sign or symptom that is aggravated by activity, exertion, or exercise. tmpxe7fu0cj_hp_relaxed.owl Worsened by activity|Aggravated by exercise|Worse with activity|Aggravated by exertion 2016-12-18 15:30:58+00:00 HPO:probinson owl:Class HP:0008244 biolink:NamedThing Congenital adrenal hypoplasia A type of adrenal hypoplasia with congenital onset. tmpxe7fu0cj_hp_relaxed.owl Congenital adrenal gland hypoplasia UMLS:C0220766|SNOMEDCT_US:93235007 HP:0008246 human_phenotype owl:Class HP:0002403 biolink:NamedThing Positive Romberg sign The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:298310004|UMLS:C0240914 human_phenotype owl:Class HP:0410019 biolink:NamedThing Epigastric pain Pain that is localized to the region of the upper abdomen immediately below the ribs. tmpxe7fu0cj_hp_relaxed.owl Epigastrium pain owl:Class HP:0007503 biolink:NamedThing Generalized ichthyosis tmpxe7fu0cj_hp_relaxed.owl Generalised ichthyosis UMLS:C3552528 human_phenotype owl:Class HP:0031003 biolink:NamedThing Polyneuritis Simulataneous inflammation of multiple nerves. tmpxe7fu0cj_hp_relaxed.owl Multiple neuritis 2017-05-13 20:14:55+00:00 peter owl:Class HP:0031012 biolink:NamedThing Thin-cap fibroatheroma Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis. tmpxe7fu0cj_hp_relaxed.owl TCFA 2017-05-18 02:45:29+00:00 peter owl:Class HP:0033568 biolink:NamedThing Left axis deviation A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees. tmpxe7fu0cj_hp_relaxed.owl Electrical left axis deviation 2021-01-24 13:42:00+00:00 peter owl:Class HP:0006333 biolink:NamedThing Crowded maxillary incisors A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor. tmpxe7fu0cj_hp_relaxed.owl Crowded upper incisors|Overlapped maxillary incisors|Crowded upper front teeth|Overlapped upper front teeth UMLS:C4021602 human_phenotype owl:Class HP:0012129 biolink:NamedThing Abnormality of bone marrow stromal cells tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023034 peter 2012-09-16T07:13:26Z human_phenotype owl:Class HP:0004825 biolink:NamedThing Increased hemoglobin oxygen affinity An abnormal increase in the binding affinity of hemoglobin for oxygen. tmpxe7fu0cj_hp_relaxed.owl Increased haemoglobin oxygen affinity|Increased Hb oxygen affinity|Increased haemoglobin O2 affinity|Increased hemoglobin O2 affinity|Increased Hb O2 affinity UMLS:C4021647 human_phenotype owl:Class HP:0030930 biolink:NamedThing 1-minute APGAR score of 3 tmpxe7fu0cj_hp_relaxed.owl 2016-11-07 18:16:25+00:00 robinp owl:Class HP:0012479 biolink:NamedThing Temporomandibular joint crepitus Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound. tmpxe7fu0cj_hp_relaxed.owl Temporomandibular joint clicking sound|Jaw joint crepitus|Jaw joint popping sound|Temporomandibular joint grating sound|Jaw joint sounds|Temporomandibular joint sounds|Temporomandibular joint popping sound|Jaw joint grating sound|Temporomandibular joint noise|Jaw joint clicking sound|Jaw joint noise UMLS:C4280313|SNOMEDCT_US:298377005|UMLS:C4280315|UMLS:C4280314|UMLS:C0575154 peter 2013-11-28T07:28:13Z human_phenotype owl:Class HP:0008396 biolink:NamedThing Chronic monilial nail infection Chronic infection of the nails by Candida species. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024683 owl:Class HP:0030729 biolink:NamedThing Frontoethmoidal meningocele A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones. tmpxe7fu0cj_hp_relaxed.owl Frontoethmoid meningocele UMLS:C4280798 owl:Class HP:0008096 biolink:NamedThing Medially deviated second toe Medial deviation of the second toe. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1862147 human_phenotype owl:Class CL:0000021 biolink:NamedThing female germ cell Female germ cell is a germ cell that supports female gamete production. tmpxe7fu0cj_hp_relaxed.owl ncithesaurus:Egg|VHOG:0001530|MA:0000388 cell owl:Class HP:0033991 biolink:NamedThing Vasa previa Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally. tmpxe7fu0cj_hp_relaxed.owl 2021-08-18 12:29:15+00:00 This abnormality is problematic because of the location of the unprotected vessels. If the fetal head compresses these vessels, it can result in fetal hypoperfusion and acidemia. If the vessels rupture it can lead to fetal hemorrhage. peter owl:Class HP:0012822 biolink:NamedThing Bilateral vocal cord paresis Decreased strength of the vocal fold on both sides. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0751574|MSH:D014826 hecht 2014-05-28T09:25:43Z human_phenotype owl:Class HP:0033046 biolink:NamedThing Michaelis-Gutmann bodies Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria. tmpxe7fu0cj_hp_relaxed.owl Malakoplakia Malakoplakia is a rare chronic inflammation that is characterized microscopically by the accumulation of tissue macrophages containing unique intracytoplasmic calcified inclusion bodies, known as Michaelis-Gutmann bodies. peter owl:Class NBO:0000586 biolink:NamedThing opisthotonus "A form of tetanic spasm in which the head, neck and spine are bent backward and the body is bowed forward." [JAX:] MP:0002880|HP:0002179 tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T11:08:01Z George Gkoutos behavior_ontology owl:Class HP:0033128 biolink:NamedThing Delayed ability to crawl A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months. tmpxe7fu0cj_hp_relaxed.owl 2020-09-05 13:40:32+00:00 peter owl:Class HP:0033406 biolink:NamedThing Elevated circulating o-phosphoethanolamine concentration An increased concentration of o-phosphoethanolamine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 15:47:21+00:00 peter owl:Class HP:0025612 biolink:NamedThing Corneal astigmatism A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea. tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 23:06:10+00:00 HPO:probinson owl:Class HP:0007795 biolink:NamedThing Anterior cortical cataract A cataract that affects the anterior part of the cortex of the lens. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857308 human_phenotype owl:Class HP:4000027 biolink:NamedThing anti-LAD-1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 14:48:27+00:00 Bullous pemphigoid (BP) is an autoimmune blistering skin disease characterized by an autoimmune response to type XVII collagen (BP180). The generation of anti-BP180-NC16A IgG autoantibodies is considered to be central to the pathogenesis of BP, in part due to the close correlation between serum concentration and disease activity. However, about 60% of BP patients also generate IgG autoantibodies against LAD-1. robinp owl:Class HP:0003958 biolink:NamedThing Cross-fusion of the forearm bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025480 human_phenotype owl:Class HP:0002074 biolink:NamedThing Increased neuronal autofluorescent lipopigment Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. tmpxe7fu0cj_hp_relaxed.owl Neuronal lipopigments UMLS:C4020857|UMLS:C4025728 human_phenotype owl:Class HP:0009904 biolink:NamedThing Prominent ear helix Abnormally prominent ear helix. tmpxe7fu0cj_hp_relaxed.owl Large helix UMLS:C4020776|UMLS:C4024165 peter 2009-05-01T02:49:39Z human_phenotype owl:Class HP:0010464 biolink:NamedThing Streak ovary A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0266371|SNOMEDCT_US:70550008 peter 2009-09-15T08:42:35Z human_phenotype owl:Class HP:0002331 biolink:NamedThing Recurrent paroxysmal headache Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1854337 human_phenotype owl:Class HP:0010879 biolink:NamedThing Postnatal cystic hygroma tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023677 peter 2010-09-13T08:08:47Z human_phenotype owl:Class HP:0025073 biolink:NamedThing Exercise-induced U wave inversion U wave inversion that is induced by exercise stress testing. tmpxe7fu0cj_hp_relaxed.owl 2016-09-26 10:44:21+00:00 HPO:probinson owl:Class GO:0008483 biolink:NamedThing transaminase activity Catalysis of the transfer of an amino group to an acceptor, usually a 2-oxo acid. tmpxe7fu0cj_hp_relaxed.owl aminotransferase activity EC:2.6.1.-|Reactome:R-HSA-1237102 molecular_function owl:Class HP:0005241 biolink:NamedThing Total intestinal aganglionosis A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:204745000|UMLS:C0345240|MSH:C538058 human_phenotype owl:Class HP:0012308 biolink:NamedThing Decreased serum complement C9 A reduced level of the complement component C9 in circulation. tmpxe7fu0cj_hp_relaxed.owl Decreased serum C9 UMLS:C4021093 peter 2013-08-10T11:07:25Z human_phenotype owl:Class HP:0033672 biolink:NamedThing Positive carpal Tinel sign The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve. tmpxe7fu0cj_hp_relaxed.owl Positive carpal Hoffmann Tinel sign 2021-02-28 15:02:26+00:00 Carpal tunnel syndrome is the most common entrapment neuropathy. The pain and paresthesias characterizing carpal tunnel syndrome are typically along the distribution of the median nerve (i.e., thumb, index finger, and middle finger). At times, these symptoms may occur in all the fingers, but should not occur in the dorsum or palm of the hand. peter owl:Class HP:0003921 biolink:NamedThing Laterally sloping humeral metaphysis tmpxe7fu0cj_hp_relaxed.owl Laterally sloping metaphysis of long bone of upper arm UMLS:C4025506 human_phenotype owl:Class HP:0032611 biolink:NamedThing Renal tubular epithelial cell hemosiderin Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. tmpxe7fu0cj_hp_relaxed.owl Renal tubular epithelial cells process reabsorbed urinary hemoglobin to hemosiderin. peter owl:Class HP:0040237 biolink:NamedThing Impaired binding of factor VIII to VWF Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay. tmpxe7fu0cj_hp_relaxed.owl von Willebrand Disease Type II Normandy UMLS:C4280710 This term has been requested and created by members of the BRIDGE consortium owl:Class HP:0005381 biolink:NamedThing Recurrent meningococcal disease Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus. tmpxe7fu0cj_hp_relaxed.owl Increased susceptibility to neisseria meningitidis infections UMLS:C1970263 HP:0005414 human_phenotype owl:Class HP:0007755 biolink:NamedThing Juvenile epithelial corneal dystrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C0339277|SNOMEDCT_US:1674008|MSH:D053559 human_phenotype owl:Class HP:0003853 biolink:NamedThing Sclerosis with transverse striations in metaphyses of the upper limbs tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025552 human_phenotype owl:Class HP:0009737 biolink:NamedThing Lisch nodules The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. tmpxe7fu0cj_hp_relaxed.owl Iris hamartomas UMLS:C1860334 peter 2009-01-31T11:45:04Z human_phenotype owl:Class HP:0005661 biolink:NamedThing Salmonella osteomyelitis Osteomyelitis caused by infection with the bacteria, salmonella. tmpxe7fu0cj_hp_relaxed.owl Salmonella bone infection SNOMEDCT_US:6803002|UMLS:C0152491 human_phenotype owl:Class HP:0012540 biolink:NamedThing Axillary epidermoid cyst An epidermoid cyst in the armpit. tmpxe7fu0cj_hp_relaxed.owl Armpit cyst UMLS:C4022859 peter 2013-12-15T10:35:39Z human_phenotype owl:Class HP:0003154 biolink:NamedThing Increased circulating ACTH level An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. tmpxe7fu0cj_hp_relaxed.owl Increased plasma ACTH|High blood corticotropin levels|Increased circulating ACTH level UMLS:C4021740 human_phenotype owl:Class HP:0011233 biolink:NamedThing Antihelical shelf Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha. tmpxe7fu0cj_hp_relaxed.owl Conchal shelf UMLS:C4021197 In marked cases this often appears to be associated with lack of lateral protrusion of the antihelix. peter 2011-12-15T07:03:37Z human_phenotype owl:Class PR:000007636 biolink:NamedThing forkhead box protein N1 tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0030496 biolink:NamedThing Macular exudate Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. tmpxe7fu0cj_hp_relaxed.owl Macular exudation|Macular exudates UMLS:C4072984 owl:Class HP:0030838 biolink:NamedThing Hip pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. tmpxe7fu0cj_hp_relaxed.owl Hip pain UMLS:C0019559|SNOMEDCT_US:49218002 owl:Class GO:0042593 biolink:NamedThing glucose homeostasis Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. tmpxe7fu0cj_hp_relaxed.owl biological_process owl:Class HP:0009063 biolink:NamedThing Progressive distal muscle weakness Progressively reduced strength of the distal musculature. tmpxe7fu0cj_hp_relaxed.owl Muscle weakness, distal, progressive|Muscle weakness, progressive, distal UMLS:C1836609 HP:0009057|HP:0008933|HP:0009022 human_phenotype owl:Class HP:0025359 biolink:NamedThing Polygonal renal calices An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). tmpxe7fu0cj_hp_relaxed.owl Polygonal-shaped calices|Polygonal calices 2017-02-17 12:14:46+00:00 HPO:probinson owl:Class HP:0030541 biolink:NamedThing Unaided visual acuity 0.6 LogMAR tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073015 owl:Class HP:4000013 biolink:NamedThing Anti-desmoglein-1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 14:18:54+00:00 robinp owl:Class HP:0031222 biolink:NamedThing Increased circulating thyroxine-binding globulin level An elevated concentration of thyroxine-binding globulin (TBG) in the blood. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 12:03:22+00:00 Thyroxine-binding globulin is one of the proteins that binds thyroid hormones in the circulation. peter owl:Class HP:0025482 biolink:NamedThing Positive perchlorate discharge test An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 16:04:53+00:00 Individuals with Pendred syndrome may show a positive perchlorate discharge test. HPO:probinson owl:Class HP:0031695 biolink:NamedThing Severe parainfluenza infection An unusually severe infection by a parainfluenza virus. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 22:38:29+00:00 peter owl:Class MAXO:0010220 biolink:NamedThing prostate ultrasonography The use of ultrasound to produce images of structures in the prostate gland. tmpxe7fu0cj_hp_relaxed.owl prostate gland ultrasound imaging procedure|prostate gland ultrasound examination|prostate gland diagnostic sonography|ultrasonography of prostate gland|prostate gland sonography|prostate gland medical ultrasound|prostate gland ultrasound procedure|sonography of prostate gland 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-3010 owl:Class HP:0011250 biolink:NamedThing Bifid antitragus Double rather than single peak of the antitragus. tmpxe7fu0cj_hp_relaxed.owl Double antitragus UMLS:C4021187 peter 2011-12-18T12:14:26Z human_phenotype owl:Class HP:0012186 biolink:NamedThing Entrapment neuropathy of the ulnar nerve at elbow An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023008 peter 2013-02-24T09:27:57Z human_phenotype owl:Class HP:0012220 biolink:NamedThing Non-caseating epithelioid cell granulomatosis The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022999 This feature is a hallmark of sarcoidosis. peter 2013-03-30T07:04:43Z human_phenotype owl:Class HP:0005855 biolink:NamedThing Multiple prenatal fractures The presence of bone fractures in the prenatal period that are diagnosed at birth or before. tmpxe7fu0cj_hp_relaxed.owl Numerous multiple fractures that are present at birth|Multiple fractures, present at birth|Numerous multiple fractures present at birth|Congenital bone fractures|Multiple fractures present at birth UMLS:C1853171 HP:0002811|HP:0005761 human_phenotype owl:Class HP:0001840 biolink:NamedThing Metatarsus adductus The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. tmpxe7fu0cj_hp_relaxed.owl Metatarsus varus|Metatarsus adductovarsus|Intoe|Forefoot varus|Front half of foot turns inward MSH:D000070592|SNOMEDCT_US:77599005|UMLS:C4082169|UMLS:C0231791 Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline. HP:0001768|HP:0010217 human_phenotype owl:Class HP:0033758 biolink:NamedThing Labial abscess A circumscribed area of pus or necrotic debris in the labia. tmpxe7fu0cj_hp_relaxed.owl Abscess of the labia 2021-04-28 13:04:02+00:00 peter owl:Class HP:0007436 biolink:NamedThing Hair-nail ectodermal dysplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024880 human_phenotype owl:Class HP:0032222 biolink:NamedThing Serrated intestinal polyps The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification. tmpxe7fu0cj_hp_relaxed.owl Serrated polyposis 2019-01-21 01:40:27+00:00 peter owl:Class HP:0032531 biolink:NamedThing Elevated CSF gamma-aminobutyric acid concentration tmpxe7fu0cj_hp_relaxed.owl 2019-05-27 12:58:14+00:00 Abnormally increased level of gamma-amino butyric acid (GABA) in the cerebrospinal fluid (CSF). peter owl:Class HP:0032031 biolink:NamedThing Medial canthal tendon laxity Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. tmpxe7fu0cj_hp_relaxed.owl 2018-09-01 14:50:46+00:00 peter owl:Class HP:0012724 biolink:NamedThing Upper eyelid edema Edema in the region of the upper eyelid. tmpxe7fu0cj_hp_relaxed.owl Swelling of upper eyelid|Upper eyelid oedema|Puffiness of upper eyelid|Cellulitis of upper eyelid|Fullness of upper eyelid UMLS:C3839407|SNOMEDCT_US:700339006|UMLS:C2025988 peter 2014-03-23T01:38:57Z human_phenotype owl:Class HP:0030279 biolink:NamedThing Hypoplastic L5 vertebral pedicle Underdeveloped pedicle of the fifth lumbar vertebra. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022539 owl:Class HP:0032499 biolink:NamedThing Giant neutrophil granules The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation. tmpxe7fu0cj_hp_relaxed.owl 2019-05-23 22:49:33+00:00 In Chediak Higashi syndrome, stimulus-induced giant granule mobilization is severely reduced, which may contribute to the propensity for severe bacterial infections. peter owl:Class HP:0410028 biolink:NamedThing Recurrent oral herpes Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus. tmpxe7fu0cj_hp_relaxed.owl Recurrent herpes labialis 2017-06-20 21:46:19+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0032387 biolink:NamedThing Reduced circulating transferrin concentration An abnormally decreased concentration of transferrin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Reduced transferrin level 2019-02-24 15:35:44+00:00 peter owl:Class HP:0032202 biolink:NamedThing Vulvar intraepithelial neoplasia Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. tmpxe7fu0cj_hp_relaxed.owl 2019-01-20 13:31:43+00:00 peter owl:Class HP:0005327 biolink:NamedThing Loss of facial expression tmpxe7fu0cj_hp_relaxed.owl Loss of facial expression UMLS:C1852476 human_phenotype owl:Class HP:0030628 biolink:NamedThing Foveal subretinal hyporeflective spaces on macular OCT tmpxe7fu0cj_hp_relaxed.owl UMLS:C4073098 owl:Class HP:0012560 biolink:NamedThing Decreased T3/T4 ratio A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022845 peter 2014-01-04T01:54:13Z human_phenotype owl:Class HP:0033493 biolink:NamedThing Mesangial matrix expansion Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. tmpxe7fu0cj_hp_relaxed.owl Increased glomerular mesangial matrix 2021-01-10 13:15:21+00:00 peter owl:Class HP:0000538 biolink:NamedThing Pseudopapilledema Apparent optic disc swelling in the absence of increased intracranial pressure. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:57138009|UMLS:C0155300|MSH:C562401 Papilledema is disc edema secondary to increased intracranial pressure. human_phenotype owl:Class HP:0012707 biolink:NamedThing Elevated brain lactate level by MRS An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022762 Lactate (Lac) is absent in normal brain tissue and its presence is indicative of anerobic glycolysis at the cellular level. Elevated levels are associated with ischemic conditions or metabolic disorders (where anerobic glycolysis predominates) but is also noted at the edges of large brain tumours. The peak is very sensitive to the technique employed and unless the correct echo time is employed, it may be artifactually suppressed. The spectral peak lies at 1:33 ppm. The peak is often inverted or bifid. peter 2014-03-22T08:08:20Z human_phenotype owl:Class HP:0032345 biolink:NamedThing Elevated cancer Ag 19-9 level An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2019-02-21 13:26:41+00:00 CA 19-9 is also referred to as sialyl Lewis-a (sLea). It is expressed on the surface of cancer cells as a glycolipid and as an O-linked glycoprotein. Subsequently, CA 19-9 was also identified in the tissue and sera of patients with other gastrointestinal tumors including esophageal, gastric, biliary and pancreatic cancer. CA 19-9 is derived from an aberrant pathway during production of its normal counterpart disialyl Lewis-a which has one extra sialic acid residue attached through a 2-to-6 linkage. Disialyl Lewis-a is normally expressed on the epithelial surface of digestive organs, serves as a ligand for monocytes and macrophages, and helps in immunosurveillance. Epigenetic silencing of the gene for 2-to-6 sialyl transferase during early stages of carcinogenesis leads to abnormal synthesis and accumulation of sialyl Lewis-a (CA 19-9). peter owl:Class HP:0002389 biolink:NamedThing Cavum septum pellucidum If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. tmpxe7fu0cj_hp_relaxed.owl Persistent cavum septum pellucidum|Large cavum septi pellucidi|Widened cavum septum pellucidum UMLS:C1840380 HP:0007091|HP:0007336|HP:0006884 human_phenotype owl:Class HP:0001452 biolink:NamedThing Autosomal dominant contiguous gene syndrome tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025777 human_phenotype owl:Class PATO:0002135 biolink:NamedThing delayed closure A duration quality of a process inhering in a bearer by virtue of the bearer's delay to complete the closure of the opening of an anatomical entity. tmpxe7fu0cj_hp_relaxed.owl 2009-10-26T01:03:17Z quality owl:Class HP:0032591 biolink:NamedThing Renal interstitial hemosiderin Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. tmpxe7fu0cj_hp_relaxed.owl Hemosiderin is an iron-containing, golden-brown, granular pigment derived from ferritin, the initial iron-storage protein. As iron accumulates within the cell, aggregates of ferritin molecules form hemosiderin. Upon hemolysis of red blood cells, hemoglobin alpha-beta dimers are released that, if unbound to haptoglobin, are filtered by the glomerulus and appear in the urine as hemoglobinuria. The hemoglobin dimers are taken up by renal proximal tubular cells and degraded and the free chelatable iron is stored as hemosiderin in the lysosomes. Hemosiderin deposition in kidney tubular cells has been reported in different types of hemolytic anemia including autoimmune hemolytic anemia and paroxysmal nocturnal hemoglobinuria and sickle cell anemia and after cardiac valve replacement with residual valvular regurgitation or perivalvular leak. peter owl:Class HP:0410215 biolink:NamedThing Hypocapnia in cord blood Abnormally decreased blood carbon dioxide (CO2) level in the cord blood. tmpxe7fu0cj_hp_relaxed.owl Low cord blood carbon dioxide level 2018-09-12 00:44:35+00:00 owl:Class HP:0025514 biolink:NamedThing Morning glory anomaly An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic. tmpxe7fu0cj_hp_relaxed.owl Morning glory optic disc|Morning glory disc anomaly 2017-05-15 02:00:59+00:00 The name of this anomaly derives from a perceived similarity of the anomaly to the morning glory flower. HPO:probinson owl:Class CHEBI:7044 biolink:NamedThing myoglobin tmpxe7fu0cj_hp_relaxed.owl vertebrate myoglobin|Myoglobin KEGG:C05782|COMe:PRX000322 chebi_ontology owl:Class HP:0031494 biolink:NamedThing Ovarian mucinous tumor Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma. tmpxe7fu0cj_hp_relaxed.owl Mucinous neoplasm of the ovary|Ovarian mucinous tumour 2017-09-18 00:44:01+00:00 peter owl:Class HP:0006028 biolink:NamedThing Metaphyseal cupping of metacarpals Metaphyseal cupping affecting the metacarpal bones. tmpxe7fu0cj_hp_relaxed.owl Metacarpal/metaphyseal cupping|Cupping of wide portion of long bone of hand UMLS:C1855171 HP:0006131 human_phenotype owl:Class HP:0031241 biolink:NamedThing Subfoveal choroidal neovascularization A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 21:27:51+00:00 peter owl:Class HP:0001341 biolink:NamedThing Olfactory lobe agenesis tmpxe7fu0cj_hp_relaxed.owl Olfactory lobe absence UMLS:C1855331 human_phenotype owl:Class HP:0008005 biolink:NamedThing Congenital corneal dystrophy tmpxe7fu0cj_hp_relaxed.owl UMLS:C1611195 human_phenotype owl:Class HP:0030763 biolink:NamedThing Amniotic Sheet A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion. tmpxe7fu0cj_hp_relaxed.owl Amniotic shelf UMLS:C4280779 owl:Class HP:0033168 biolink:NamedThing Reduced mevalonate kinase activity Abnormally reduced activity of mevalonate kinase, ,which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids. tmpxe7fu0cj_hp_relaxed.owl 2020-09-24 09:42:41+00:00 peter owl:Class HP:0006821 biolink:NamedThing Frontal polymicrogyria A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum. tmpxe7fu0cj_hp_relaxed.owl Polymicrogyria, anterior to posterior gradient UMLS:C1847356 human_phenotype owl:Class HP:0025551 biolink:NamedThing Optic nerve misrouting Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp). tmpxe7fu0cj_hp_relaxed.owl Optic pathway misrouting|Visual pathway misrouting 2017-07-09 13:10:15+00:00 HPO:probinson owl:Class HP:0025526 biolink:NamedThing Psoriasiform lesion A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus. tmpxe7fu0cj_hp_relaxed.owl Erythematosquamous plaque|Psoriatic-like lesion|Erythemato-squamous plaque 2017-05-17 23:58:25+00:00 HPO:probinson owl:Class HP:0031844 biolink:NamedThing Euphoria A sense of intense joy or happiness that is beyond what would be expected under the given circumstances. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 15:29:11+00:00 peter owl:Class HP:0011944 biolink:NamedThing Small vessel vasculitis A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023113 peter 2012-06-11T07:58:21Z human_phenotype owl:Class HP:0000757 biolink:NamedThing Lack of insight tmpxe7fu0cj_hp_relaxed.owl Lack of insight UMLS:C0233824|SNOMEDCT_US:24340004 human_phenotype owl:Class HP:0100595 biolink:NamedThing Camptocormia An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:13534001|MSH:C537968|UMLS:C0264162 doelkens 2010-12-27T04:55:11Z human_phenotype owl:Class HP:0500047 biolink:NamedThing Nasolacrimal sac lymphoma A type of lymphoma that involves the nasolacrimal sac. tmpxe7fu0cj_hp_relaxed.owl 2018-02-12 18:31:38+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0000654 biolink:NamedThing Decreased light- and dark-adapted electroretinogram amplitude Descreased amplitude of eletrical response upon electroretinography. tmpxe7fu0cj_hp_relaxed.owl Decreased electroretinogram amplitude|Reduced or abolished electroretinogram|Decreased electroretinogram|Decreased ERG amplitude|Decreased amplitudes on flash visual electroretinogram|Decreased electroretinogram response|Reduced electroretinogram|Reduced ERG|Flattened or absent electroretinogram UMLS:C1839025 HP:0007845|HP:0007689|HP:0007636 human_phenotype owl:Class HP:0006337 biolink:NamedThing Premature eruption of permanent teeth Premature tooth eruption of the permanent dentition. tmpxe7fu0cj_hp_relaxed.owl Precocious eruption of secondary dentition|Precocious eruption of secondary teeth|Early eruption of adult teeth|Premature eruption of adult teeth|Early eruption of permanent teeth UMLS:C4021601 owl:Class HP:0100298 biolink:NamedThing Motheaten muscle fibers tmpxe7fu0cj_hp_relaxed.owl Motheaten muscle fibres UMLS:C4022160 doelkens 2010-08-10T02:19:26Z human_phenotype owl:Class HP:0005982 biolink:NamedThing Reduced phenylalanine hydroxylase level A reduction in phenylalanine 4-monooxygenase level. tmpxe7fu0cj_hp_relaxed.owl Phenylalanine hydroxylase deficiency SNOMEDCT_US:7573000|MSH:D010661|UMLS:C0751434|UMLS:C4025094 human_phenotype owl:Class HP:0012076 biolink:NamedThing Borderline personality disorder A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions. tmpxe7fu0cj_hp_relaxed.owl BPD UMLS:C0006012|ICD-10:F60.3|MSH:D001883|SNOMEDCT_US:20010003 hecht 2012-08-11T02:26:02Z human_phenotype owl:Class HP:0031361 biolink:NamedThing Zebra bodies Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images. tmpxe7fu0cj_hp_relaxed.owl 2017-08-27 16:00:15+00:00 peter owl:Class HP:0031028 biolink:NamedThing Lactescent serum Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level. tmpxe7fu0cj_hp_relaxed.owl Plasma lactescence|Milk-like serum 2017-05-27 10:37:46+00:00 The normal range for serum triglycerides can be taken to be 40 to 150 mg per dL (0.45 to 1.69 mmol per L). Lactescent serum can be seen with triglyceride levels of several thousand mg per dL. peter owl:Class HP:0010806 biolink:NamedThing U-Shaped upper lip vermilion Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. tmpxe7fu0cj_hp_relaxed.owl Wide, carp-shaped mouth|Large, carp-shaped mouth|Carp-shaped mouth|Fish mouth|Carp-like mouth UMLS:C1856202 The U-shaped upper vermilion is a more rounded version of the Tented upper lip vermilion. In U-shaped upper vermilion there is loss of the central groove of the Cupid's bow. Replaces: Carpmouth; Fish mouth (pejorative terms). peter 2010-06-26T03:25:01Z HP:0000186 human_phenotype owl:Class HP:0010553 biolink:NamedThing Oculogyric crisis An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:5332004|UMLS:C0085637 peter 2009-10-01T08:56:39Z human_phenotype owl:Class HP:0008236 biolink:NamedThing Isosexual precocious puberty tmpxe7fu0cj_hp_relaxed.owl UMLS:C0271528|SNOMEDCT_US:4294006 human_phenotype owl:Class HP:0025480 biolink:NamedThing Lipomyelomeningocele A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft. tmpxe7fu0cj_hp_relaxed.owl 2017-05-14 13:52:18+00:00 HPO:probinson owl:Class CL:0007001 biolink:NamedThing skeletogenic cell Cell that has the potential to form a skeletal cell type (e.g. cells in periosteum, cells in marrow) and produce extracellular matrix (often mineralized) and skeletal tissue (often mineralized). tmpxe7fu0cj_hp_relaxed.owl scleroblast Needs logical definition. Should be capable_of skeletal system morphogenesis? or skeletal tissue development? needs to be added to GO. NOTES:a cell type of the early embryo (see also: mesenchymal cells) that will give rise to mineralized connective tissue. Scleroblasts can differentiate into osteoblasts (bone-forming cells), chondroblasts (cartilage-forming cells), odontoblasts (dentin-forming cells), ameloblasts (enamel-forming cells). The mesenchymal cells developing into osteoblasts and chondroblasts are derived from the mesoderm. Those developing into odontoblasts are neural crest cells. Those developing into ameloblasts are derived from the ectoderm. (http://www.copewithcytokines.de/cope.cgi?key=scleroblasts) haendel 2012-06-15T02:51:27Z cell owl:Class HP:0031933 biolink:NamedThing Aorto-right ventricular tunnel The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle. tmpxe7fu0cj_hp_relaxed.owl Right ventricle to aorta tunnel 2018-07-04 20:40:18+00:00 peter owl:Class HP:0004540 biolink:NamedThing Congenital, generalized hypertrichosis A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth. tmpxe7fu0cj_hp_relaxed.owl Congenital generalised hypertrichosis|Hypertrichosis universalis|Congenital generalized hypertrichosis|Congenital, generalised hypertrichosis UMLS:C1855900|MSH:C538388 Hypertrichosis refers to excessive, abnormal hairiness. HP:0004547|HP:0004769 human_phenotype owl:Class HP:0030991 biolink:NamedThing Sclerosing cholangitis Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative. tmpxe7fu0cj_hp_relaxed.owl Fibrous cholangitis 2017-05-13 13:42:59+00:00 peter owl:Class HP:0032102 biolink:NamedThing Wilson sign Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia. tmpxe7fu0cj_hp_relaxed.owl 2018-11-04 22:45:32+00:00 Wilson sign may be indicative of medial femoral osteochondritis dissecans. Wilson postulated that impingement of the tibial eminence on the osteochondritic lesion caused pain and a resultant compensatory lateral rotation during gait. peter owl:Class HP:0410347 biolink:NamedThing Increased urinary high-mannose-type oligosaccharide An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased concentration of high-mannose-type oligosaccharides in urine owl:Class HP:0410238 biolink:NamedThing Increased anti-plant product IgE antibody level Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen. tmpxe7fu0cj_hp_relaxed.owl 2018-10-03 23:09:00+00:00 owl:Class PR:000023661 biolink:NamedThing orotidine 5'-phosphate decarboxylase A protein that is a translation product of the Escherichia coli K-12 pyrF gene or a 1:1 ortholog thereof. tmpxe7fu0cj_hp_relaxed.owl OMPdecase|OMP decarboxylase|OMPDCase|pyrF Category=gene. protein owl:Class HP:0012866 biolink:NamedThing Abnormal sperm neck morphology A structural abnormality of the sperm neck. tmpxe7fu0cj_hp_relaxed.owl Sperm neck anomaly UMLS:C4022701 The neck of spermatozoa is the site of articulation between the head and tail, and comprises the sperm centriole and connecting piece. hecht 2014-06-09T10:50:20Z owl:Class HP:0002848 biolink:NamedThing Decreased specific anti-polysaccharide antibody level The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides. tmpxe7fu0cj_hp_relaxed.owl Specific anti-polysaccharide antibody deficiency|Depressed antibody response to polysaccharide antigens|Low specific anti-polysaccharide antibody titer UMLS:C4021747 Specific anti-polysaccharide antibody deficiency is associated with an increased risk of infection with Streptococcus pneumoniae, Haemophilus influenzae type b, and Staphylococcus aureus. human_phenotype owl:Class HP:0025335 biolink:NamedThing Delayed ability to stand A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. tmpxe7fu0cj_hp_relaxed.owl 2017-02-12 11:48:00+00:00 Child can stand in an upright position on both feet, holding onto a stable object (eg, furniture) for at least 10 s without leaning on it. HPO:probinson owl:Class HP:0002046 biolink:NamedThing Heat intolerance The inability to maintain a comfortable body temperature in warm or hot weather. tmpxe7fu0cj_hp_relaxed.owl Heat intolerance|Intolerance to heat and fevers UMLS:C0231274|SNOMEDCT_US:69215007 Heat intolerance tends to produce a feeling of being overheated and profuse diaphoresis (sweating). Many, but not all, cases of heat intolerance are related to thyrotoxicosis. owl:Class HP:0031100 biolink:NamedThing Decreased inhibin B level A reduced concentration of inhibin B in the blood. tmpxe7fu0cj_hp_relaxed.owl 2017-05-30 02:19:26+00:00 Inhibin B, a dimer with an alpha and a betaB subunit, is produced exclusively by the testis and controls FSH secretion via a negative feedback mechanism. peter owl:Class HP:0031354 biolink:NamedThing Sleep onset insomnia Difficulty initiating sleep, that is, increased sleep onset latency. tmpxe7fu0cj_hp_relaxed.owl Difficulty falling asleep 2017-08-27 15:00:50+00:00 peter owl:Class HP:0011746 biolink:NamedThing Secretory adrenocortical adenoma An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones. tmpxe7fu0cj_hp_relaxed.owl Secretory adrenal adenoma UMLS:C4021125 peter 2012-04-21T11:58:38Z human_phenotype owl:Class UBERON:0005814 biolink:NamedThing arch of atlas A vertebral arch that is part of the first cervical vertebra. tmpxe7fu0cj_hp_relaxed.owl atlas arch FMA:23975 uberon owl:Class HP:0030429 biolink:NamedThing Juvenile nasopharyngeal angiofibroma A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1367536|SNOMEDCT_US:716590006|SNOMEDCT_US:60392001 owl:Class HP:0011085 biolink:NamedThing Hypomature dental enamel A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color. tmpxe7fu0cj_hp_relaxed.owl Immature tooth enamel|Soft teeth|Soft tooth enamel UMLS:C4023540|UMLS:C4280336|UMLS:C4280266 Radiographically there is normal thickness of enamel and the enamel is slightly more radiolucent than dentin. peter 2011-03-11T12:10:33Z human_phenotype owl:Class HP:0030462 biolink:NamedThing Abnormal amplitude of flash visual evoked potentials tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072952 owl:Class HP:0004851 biolink:NamedThing Folate-responsive megaloblastic anemia A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate. tmpxe7fu0cj_hp_relaxed.owl Folate-responsive megaloblastic anaemia UMLS:C2749656 human_phenotype owl:Class HP:0040137 biolink:NamedThing Comedonal acne A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules. tmpxe7fu0cj_hp_relaxed.owl Comedogenic acne UMLS:C4022418 HPO:skoehler owl:Class HP:0033574 biolink:NamedThing Anti-H3 antibody positivity The presence of autoantibodies in the blood circulation that react against histone H3. tmpxe7fu0cj_hp_relaxed.owl 2021-01-24 13:56:48+00:00 peter owl:Class HP:0410257 biolink:NamedThing Neutrophilia in presence of infection An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus. tmpxe7fu0cj_hp_relaxed.owl 2018-10-19 19:22:50+00:00 owl:Class HP:0011900 biolink:NamedThing Hypofibrinogenemia Decreased concentration of fibrinogen in the blood. tmpxe7fu0cj_hp_relaxed.owl Low fibrinogen activity|Low fibrinogen level SNOMEDCT_US:234457009|UMLS:C0553681 peter 2012-06-03T03:39:47Z human_phenotype owl:Class HP:0030803 biolink:NamedThing Platonychia Abnormal flat nail. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1853986 owl:Class HP:0009760 biolink:NamedThing Antecubital pterygium Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. tmpxe7fu0cj_hp_relaxed.owl Pterygium cubitale|Webbed elbow MSH:C566738|UMLS:C1867439 peter 2009-01-31T10:12:24Z human_phenotype owl:Class HP:0011528 biolink:NamedThing Solitary congenital hypertrophy of retinal pigment epithelium Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance. tmpxe7fu0cj_hp_relaxed.owl Single isolated congenital hypertrophy of retinal pigment epithelium|Single isolated CHRPE UMLS:C4021145 peter 2012-04-06T09:24:44Z human_phenotype owl:Class HP:0032018 biolink:NamedThing Multiple mononeuropathy A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially. tmpxe7fu0cj_hp_relaxed.owl Mononeuritis multiplex 2018-08-25 15:36:22+00:00 Mononeuritis multiplex can be a manifestation of several disorders including infectious, inflammatory, neoplastic, toxic, metabolic and hereditary conditions. peter owl:Class HP:0410285 biolink:NamedThing Positive meconium methadone test Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium. tmpxe7fu0cj_hp_relaxed.owl 2018-12-04 02:02:19+00:00 owl:Class HP:0001335 biolink:NamedThing Bimanual synkinesia Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand. tmpxe7fu0cj_hp_relaxed.owl Mirror movements|Mirror hand movements|Hand mirror movements UMLS:C0454455|SNOMEDCT_US:229247004 Mirror movement refers to simultaneous contralateral, involuntary, identical movements that accompany voluntary movements. Erlenmeyer first used this term in 1879. The definition of mirror movement as involuntary, synkinetic mirror reversals of an intended movement of opposite side was coined by Cohen et al. in 1991. These movements are soft, neurologic signs, seen uncommonly in clinical practice. human_phenotype owl:Class HP:5000031 biolink:NamedThing Anti-Septin-5 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5. tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-3387-1836 owl:Class HP:0100959 biolink:NamedThing Dense metaphyseal bands Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex. tmpxe7fu0cj_hp_relaxed.owl Transverse metaphyseal bands|Dense metaphyseal lines UMLS:C4020919 doelkens 2012-01-18T05:25:57Z human_phenotype owl:Class HP:0012313 biolink:NamedThing Heberden's node Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:371598009|UMLS:C0018862 Heberden's nodes are nodular deformities at the distal interphalangeal joint of the fingers (usually the middle and index) and are commonly seen in the elderly. The deformity is created by osteophyte formation and synovial thickening at the margin ofan osteoarthritic joint. Significant functional problems are rarely encountered though patients may suffer with stiffness and pain. Surgical intervention is seldom indicated unless there is severe pain or instability. In such cases, a joint fusion may be appropriate. peter 2013-08-10T12:19:59Z human_phenotype owl:Class HP:0040247 biolink:NamedThing Reduced euglobulin clot lysis time Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280701 This term has been requested and created by members of the BRIDGE consortium owl:Class HP:0034158 biolink:NamedThing Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions. tmpxe7fu0cj_hp_relaxed.owl Anti-PTPA antibody positivity 2021-12-23 15:56:02+00:00 peter owl:Class HP:0032220 biolink:NamedThing Interface hepatitis Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma. tmpxe7fu0cj_hp_relaxed.owl 2019-01-21 01:12:37+00:00 peter owl:Class HP:0005316 biolink:NamedThing Peripheral pulmonary vessel aplasia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1848877 owl:Class HP:0005259 biolink:NamedThing Abnormal facility in opposing the shoulders tmpxe7fu0cj_hp_relaxed.owl UMLS:C1861517 owl:Class HP:0025619 biolink:NamedThing Elevated plasma cell count An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. tmpxe7fu0cj_hp_relaxed.owl 2019-04-08 23:53:33+00:00 HPO:probinson owl:Class UBERON:0004832 biolink:NamedThing anal region skeletal muscle A portion of skeletal muscle tissue that is part of an anal region [Automatically generated definition]. tmpxe7fu0cj_hp_relaxed.owl anal part of perineum skeletal muscle|anal triangle skeletal muscle tissue|skeletal muscle of anal part of perineum|anal region skeletal muscle tissue|skeletal muscle of anal region|skeletal muscle tissue of anal region|skeletal muscle tissue of anal part of perineum|skeletal muscle of anal triangle|anal triangle skeletal muscle|anal part of perineum skeletal muscle tissue|skeletal muscle tissue of anal triangle MA:0001530|EMAPA:37393 uberon owl:Class HP:0011305 biolink:NamedThing Partial absence of toe The absence of a phalangeal segment of a toe or hallux. tmpxe7fu0cj_hp_relaxed.owl Hypophalangy of toes|Partial absence of toe UMLS:C4021169 The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present. It may be difficult to know which phalanx is absent without X-rays and even then, the missing bone may not be identified (note no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective should be removed. Note that this finding is distinct from Short toes, (which are reduced in length but have the normal number of phalangeal segments). Partial absence of the hallux is an alternative term that may be used for the first toe. hecht 2012-02-12T12:20:32Z human_phenotype owl:Class HP:0031872 biolink:NamedThing Absent Birbeck granules in Langerhans cells Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy. tmpxe7fu0cj_hp_relaxed.owl 2018-05-06 13:41:13+00:00 peter owl:Class HP:0032405 biolink:NamedThing Increased urinary phosphoserine level An increased level of phosphoserine in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased level of phosphoserine in urine 2019-02-24 20:26:16+00:00 O-phosphoserine is a serine derivative that is serine substituted at the oxygen atom by a phosphono group. peter owl:Class HP:0030529 biolink:NamedThing Ring scotoma tmpxe7fu0cj_hp_relaxed.owl UMLS:C0438434|SNOMEDCT_US:129625005|MSH:D012607 owl:Class HP:0004861 biolink:NamedThing Refractory macrocytic anemia tmpxe7fu0cj_hp_relaxed.owl Refractory macrocytic anaemia UMLS:C2675059 human_phenotype owl:Class HP:0004499 biolink:NamedThing Chronic rhinitis due to narrow nasal airway tmpxe7fu0cj_hp_relaxed.owl Chronic nasal inflammation due to narrow nasal airway UMLS:C4025318 human_phenotype owl:Class HP:0030485 biolink:NamedThing Abnormal amplitude of pattern electroretinogram tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072975 owl:Class HP:0009762 biolink:NamedThing Facial wrinkling Excessive wrinkling of the skin of the face. tmpxe7fu0cj_hp_relaxed.owl Facial wrinkling UMLS:C0262478|SNOMEDCT_US:248194004 peter 2009-02-01T03:12:09Z human_phenotype owl:Class HP:0033601 biolink:NamedThing Glomerular subepithelial immune-complex deposits A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 14:51:36+00:00 peter owl:Class HP:0020212 biolink:NamedThing Reading-induced seizure A seizure precipitated by reading. tmpxe7fu0cj_hp_relaxed.owl These are typically manifest by myoclonic movements of the jaw or throat, increasing in frequency and potentially culminating in a bilateral tonic-clonic seizure if reading continues. robinp 2020-02-24 13:47:03+00:00 owl:Class HP:0012807 biolink:NamedThing High insertion of columella Insertion of the posterior columella superior to the nasal base. tmpxe7fu0cj_hp_relaxed.owl Ala lower than columella|Columella, high insertion UMLS:C4020909 This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. hecht 2014-05-25T05:51:17Z human_phenotype owl:Class HP:0025727 biolink:NamedThing Type 3 congenital pulmonary airway malformation A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance. tmpxe7fu0cj_hp_relaxed.owl peterrobinson owl:Class HP:0031782 biolink:NamedThing Microtropia without identity A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test. tmpxe7fu0cj_hp_relaxed.owl 2018-01-28 11:44:11+00:00 peter owl:Class MPATH:156 biolink:NamedThing parakeratosis Thickening of the surface cell layer of a stratified squamous epithelium with retention of nuclei in the cells of the stratum corneum. tmpxe7fu0cj_hp_relaxed.owl George Gkoutos mouse_pathology.ontology owl:Class HP:0008045 biolink:NamedThing Enlarged flash visual evoked potentials tmpxe7fu0cj_hp_relaxed.owl High flash visual evoked potentials UMLS:C4021558 human_phenotype owl:Class HP:0011837 biolink:NamedThing Partial IgA deficiency Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023167 peter 2012-05-06T09:42:01Z human_phenotype owl:Class HP:0031511 biolink:NamedThing Diagonal earlobe crease Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees. tmpxe7fu0cj_hp_relaxed.owl 2017-09-21 03:03:14+00:00 peter owl:Class HP:0031561 biolink:NamedThing Coronary cameral fistula to right ventricle An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle. tmpxe7fu0cj_hp_relaxed.owl 2017-09-29 11:29:11+00:00 peter owl:Class GO:1905720 biolink:NamedThing cytoplasmic microtubule bundle Any microtubule bundle that is part of a cytoplasm. tmpxe7fu0cj_hp_relaxed.owl microtubule bundle of cytoplasm|microtubule fascicle of cytoplasm mah 2016-11-24T16:52:02Z cellular_component owl:Class HP:0033382 biolink:NamedThing Elevated circulating palmitoylcarnitine concentration Abnormally increased concentration of palmitoylcarnitine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-12-23 15:05:50+00:00 Palmitoylcarnitine (CHEBI:73067) is also known as O-palmitoylcarnitine and O-hexadecanoylcarnitine. peter owl:Class HP:0011583 biolink:NamedThing Cervical ectopia cordis A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023286 This type of ectopia cordis presumably represents a retention of the heart in its embryonic position in the neck. peter 2012-04-08T01:11:40Z human_phenotype owl:Class HP:0008845 biolink:NamedThing Mesomelic short stature A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg). tmpxe7fu0cj_hp_relaxed.owl Mesomelic dwarfism|Dwarfism, short limb mesomelic|Short stature, disproportionate mesomelic|Short stature, mesomelic UMLS:C1855274 HP:0008910|HP:0008896|HP:0008903 human_phenotype owl:Class HP:0032348 biolink:NamedThing Cutaneous nodular amyloidosis A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue. tmpxe7fu0cj_hp_relaxed.owl 2019-02-23 16:30:50+00:00 peter owl:Class HP:0001765 biolink:NamedThing Hammertoe Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. tmpxe7fu0cj_hp_relaxed.owl Hammer toe|Hammertoe|Hammertoes UMLS:C1136179|MSH:D037801|SNOMEDCT_US:122481008 human_phenotype owl:Class HP:0005190 biolink:NamedThing Proximal finger joint hyperextensibility tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025242 human_phenotype owl:Class HP:0020149 biolink:NamedThing Elevated circulating succinate An increase concentration of succinate in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl robinp 2019-07-05 19:49:33+00:00 owl:Class HP:0100775 biolink:NamedThing Dural ectasia A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1851712 Dural ectasia is one of the major manifestations of Marfan syndrome. It may cause low back pain, headaches and neurological signs such as weakness and loss of bowel and bladder function, but in many patients it is asymptomatic. It is also a cause of posterior vertebral scalloping present in radiographs in patients who are diagnosed with Neurofibromatosis. Dural ectasia may also manifest in Ehlers-Danlos Syndrome, cauda equina syndrome and in ankylosing spondylitis. doelkens 2011-06-07T05:22:13Z human_phenotype owl:Class HP:0020171 biolink:NamedThing Decreased blood drug concentration Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. tmpxe7fu0cj_hp_relaxed.owl Reduced serum drug concentrations|Decreased serum drug concentration|Reduced blood drug concentration|Decreased plasma drug concentration|Reduced plasma drug concentration robinp 2019-07-06 21:44:04+00:00 owl:Class PATO:0002177 biolink:NamedThing deviation towards the medial side A deviation quality inhering in a bearer by virtue of the bearer's changed direction of position towards the middle. tmpxe7fu0cj_hp_relaxed.owl 2010-02-25T09:16:56Z quality owl:Class HP:0032831 biolink:NamedThing Neonatal bilateral asymmetric tonic seizure Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0011484 biolink:NamedThing Posterior synechiae of the anterior chamber Adhesions between the iris and the lens. tmpxe7fu0cj_hp_relaxed.owl Iridolenticular adhesions|Posterior synechiae UMLS:C0152253|SNOMEDCT_US:111512005 peter 2012-04-02T08:50:59Z human_phenotype owl:Class HP:0011114 biolink:NamedThing Defective production of NFKB1-dependent cytokines An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023533 peter 2011-06-12T09:12:15Z human_phenotype owl:Class HP:0010751 biolink:NamedThing Dimple chin A persistent midline depression of the skin over the fat pad of the chin. tmpxe7fu0cj_hp_relaxed.owl Chin butt|Gelasin of chin|Chin skin dimple|Chin dent|Dimple chin|Indentation of chin|Chin dimple|Chin dimples UMLS:C1849227 sdoelken 2010-04-23T10:29:03Z human_phenotype owl:Class HP:0004857 biolink:NamedThing Hyperchromic macrocytic anemia A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin. tmpxe7fu0cj_hp_relaxed.owl Hyperchromic macrocytic anaemia UMLS:C3854594 human_phenotype owl:Class HP:0025226 biolink:NamedThing Triggered by stress Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension. tmpxe7fu0cj_hp_relaxed.owl Triggered by stress|Stress triggered symptoms 2016-12-10 14:24:37+00:00 HPO:probinson owl:Class NBO:0000606 biolink:NamedThing forgetfulness "Loss of information already encoded and stored in an individual's long term memory." [wikipedia:Forgetting] HP:0000747 tmpxe7fu0cj_hp_relaxed.owl pathological forgetting|retention loss 2011-04-14T03:42:46Z George Gkoutos behavior_ontology owl:Class HP:0012199 biolink:NamedThing Cluster headache A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs. tmpxe7fu0cj_hp_relaxed.owl ICD-10:G44.0|SNOMEDCT_US:193031009|UMLS:C0009088|SNOMEDCT_US:193947008|SNOMEDCT_US:230473009|MSH:D003027 According to the International Classification of Headache Disorders (ICHD-II), the diagnosis of cluster headache can be made with at least five attacks fulfilling criteria B-D: B) Severe or very severe unilateral orbital, supraorbital and/or temporal pain lasting 15-180 minutes if untreated. C) Headache is accompanied by at least 1 of the following: (i) Ipsilateral conjunctival injection and/or lacrimation. (ii) Ipsilateral nasal congestion and/or rhinorrhea. (iii) Ipsilateral eyelid edema. (iv) Ipsilateral forehead and facial sweating. (v) Ipsilateral miosis and/or ptosis. (vi) A sense of restlessness or agitation. D) Attacks have a frequency from 1 every other day to 8/day. Additionally, the headaches cannot attributed to another disorder. peter 2013-03-12T11:37:40Z human_phenotype owl:Class HP:0009710 biolink:NamedThing Chilblains Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks. tmpxe7fu0cj_hp_relaxed.owl Chilblain lesions UMLS:C4024224 peter 2009-01-30T07:26:24Z owl:Class MAXO:0010222 biolink:NamedThing neurosonology The use of ultrasound to produce images of structures in the brain. tmpxe7fu0cj_hp_relaxed.owl ultrasonography of brain|brain diagnostic sonography|brain medical ultrasound|brain sonography|sonography of brain|brain ultrasound examination|brain ultrasound imaging procedure|brain ultrasound procedure 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-3010 owl:Class HP:0011576 biolink:NamedThing Intermediate atrioventricular canal defect A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices. tmpxe7fu0cj_hp_relaxed.owl Intermediate atrioventricular septal defect Fyler:1121|UMLS:C4023291 peter 2012-04-08T10:56:04Z human_phenotype owl:Class HP:0033206 biolink:NamedThing Hyperactive Achilles reflex Increased intensity of the Achilles reflex. tmpxe7fu0cj_hp_relaxed.owl Hyperactive ankle reflex|Hyperactive ankle jerk reflex 2020-10-11 14:41:27+00:00 peter owl:Class HP:0033934 biolink:NamedThing Arcuate vein intimal/medial storage material accumulation Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney. tmpxe7fu0cj_hp_relaxed.owl Multilamellation (onion skinning) within arteriolar intima/media|Renal arteriole intima/media onion skinning 2021-06-24 01:25:46+00:00 peter owl:Class HP:0032955 biolink:NamedThing Renal tubular polyoma virus inclusions Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. tmpxe7fu0cj_hp_relaxed.owl The inclusions are generally accompanied by a patchy pleomorphic interstitial infiltrate with lymphocytes, plasma cells, and occasional neutrophils with associated interstitial edema, tubulitis, and tubular injury. Infected tubular epithelial cells have enlarged nuclei with amorphous inclusions. Polyomavirus infection occurs in the transplanted allograft kidney and in the native kidney of immunosuppressed patients, and is usually related to BK virus (80%), JC virus (10%-20%), and less frequently simian virus 40 (SV40). peter owl:Class HP:0011645 biolink:NamedThing Dilatation of the sinus of Valsalva Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve. tmpxe7fu0cj_hp_relaxed.owl Sinus of Valsalva aneurysm|Aortic sinus aneurysm|Aneurysm of the aortic sinus Fyler:2316|SNOMEDCT_US:54160000|UMLS:C2239253 Aneurysm is considered a severe form of dilatation. peter 2012-04-09T09:31:57Z human_phenotype owl:Class HP:0031943 biolink:NamedThing Akathisia A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria. tmpxe7fu0cj_hp_relaxed.owl 2018-07-05 13:57:19+00:00 peter owl:Class HP:0008833 biolink:NamedThing Irregular acetabular roof tmpxe7fu0cj_hp_relaxed.owl UMLS:C1834975 human_phenotype owl:Class HP:0031417 biolink:NamedThing Rhinorrhea Increased discharge of mucus from the nose. tmpxe7fu0cj_hp_relaxed.owl Nasal Discharge|Runny Nose 2017-09-12 02:06:56+00:00 peter owl:Class HP:0001708 biolink:NamedThing Right ventricular failure Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly. tmpxe7fu0cj_hp_relaxed.owl Impaired right ventricular function|Right-sided heart failure|Right ventricular impairment UMLS:C0235527|SNOMEDCT_US:367363000|MSH:D006333|SNOMEDCT_US:128404006|UMLS:C2939447 human_phenotype owl:Class HP:5000026 biolink:NamedThing Anti-neurexin-3alpha antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha. tmpxe7fu0cj_hp_relaxed.owl Anti-neurexin-3alpha antibody ORCID:0000-0002-3387-1836 owl:Class HP:0550004 biolink:NamedThing Verruca plana Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals. tmpxe7fu0cj_hp_relaxed.owl Flat wart 2017-08-03 19:50:21+00:00 ORCID:0000-0002-6387-4317 owl:Class HP:0002545 biolink:NamedThing Patchy demyelination of subcortical white matter Patchy loss of myelin from nerve fibers in the central nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857638 human_phenotype owl:Class MAXO:0010219 biolink:NamedThing pelvis ultrasonography The use of ultrasound to produce images of structures in the pelvic region of trunk. tmpxe7fu0cj_hp_relaxed.owl pelvic region of trunk medical ultrasound|pelvic region of trunk ultrasound imaging procedure|sonography of pelvic region of trunk|pelvic region of trunk ultrasound examination|pelvis sonography|ultrasonography of pelvic region of trunk|pelvic region of trunk sonography|pelvic region of trunk ultrasound procedure|pelvic sonography|pelvic region of trunk diagnostic sonography 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-3010 owl:Class HP:0100541 biolink:NamedThing Femoral hernia A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal. tmpxe7fu0cj_hp_relaxed.owl Crural hernia MEDDRA:10016434|SNOMEDCT_US:50063009|UMLS:C0019288|MSH:D006550 Femoral hernias are a relatively uncommon type, accounting for only 3% of all hernias. Femoral hernia appears as a bulge in the upper thigh. doelkens 2010-12-20T06:16:40Z human_phenotype owl:Class HP:0004839 biolink:NamedThing Pyropoikilocytosis A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn. tmpxe7fu0cj_hp_relaxed.owl hereditary pyropoikilocytosis SNOMEDCT_US:9434008|MSH:C563004|UMLS:C0520739 HP:0004805 human_phenotype owl:Class HP:0031419 biolink:NamedThing Reduced sex -hormone binding protein level A decreased concentration of sex-hormone binding protein in the circulation. tmpxe7fu0cj_hp_relaxed.owl Reduced androgen-binding protein level 2017-09-12 02:20:36+00:00 Sex hormone binding globulin (NCBI Gene 6462) is also known as sex hormone binding protein and androgen binding protein. peter owl:Class HP:0032985 biolink:NamedThing Dust particle inclusion in alveolar macrophages Accumulation of inhaled, nondigestable particles in macrophages. tmpxe7fu0cj_hp_relaxed.owl This can be recognized in May-Grunwald-Giemsa routine stains. Rarey and for special indications, BAL can be further analysed to identify and quantify dust exposure. X-ray microprobe analysis identified particles which related to the known exposures, superimposed on a background of other particles related to smoking (kaolinite and mica) or to the general environment (silicon, titanium, and iron). Inhaled dust can follow in fibrous tissue and scarring which follow in impaired lung function. peter owl:Class HP:0005773 biolink:NamedThing Short forearm Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm. tmpxe7fu0cj_hp_relaxed.owl Short forearm UMLS:C1855299 human_phenotype owl:Class HP:0033492 biolink:NamedThing Podocyte cytoskeletal condensation Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. tmpxe7fu0cj_hp_relaxed.owl 2021-01-10 13:12:40+00:00 peter owl:Class HP:0000447 biolink:NamedThing Pear-shaped nose tmpxe7fu0cj_hp_relaxed.owl Pear-shaped nose UMLS:C1853482 human_phenotype owl:Class HP:0008850 biolink:NamedThing Severe postnatal growth retardation Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. tmpxe7fu0cj_hp_relaxed.owl Marked growth retardation|Severe postnatal growth deficiency|Severe postnatal growth failure|Severe growth delay in children UMLS:C1857641 HP:0008932|HP:0001521|HP:0008854|HP:0008911 human_phenotype owl:Class HP:0007034 biolink:NamedThing Generalized hyperreflexia tmpxe7fu0cj_hp_relaxed.owl Generalised hyperreflexia UMLS:C4024949 human_phenotype owl:Class HP:0002497 biolink:NamedThing Spastic ataxia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849156|MSH:C564815 human_phenotype owl:Class HP:0031564 biolink:NamedThing Bronchial isomerism An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism). tmpxe7fu0cj_hp_relaxed.owl 2017-09-29 22:43:03+00:00 peter owl:Class HP:0011975 biolink:NamedThing Aminoglycoside-induced hearing loss Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023100 The ototoxicity of aminoglycoside antibiotics is related to the destruction of sensory hair cells in the cochlea and vestibular labyrinth. peter 2012-07-18T08:55:03Z human_phenotype owl:Class HP:0006357 biolink:NamedThing Premature loss of permanent teeth Premature loss of the permanent teeth. tmpxe7fu0cj_hp_relaxed.owl Premature loss of secondary teeth|Early loss of adult teeth|Early loss of secondary dentition|Early loss of permanent teeth|Premature loss of adult teeth UMLS:C1969738 human_phenotype owl:Class HP:0033755 biolink:NamedThing Increased left ventricular end-diastolic volume Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole). tmpxe7fu0cj_hp_relaxed.owl 2021-04-22 19:22:54+00:00 peter owl:Class HP:0011421 biolink:NamedThing Death in adolescence Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years). tmpxe7fu0cj_hp_relaxed.owl Death in adolescence UMLS:C4023368 peter 2012-03-16T06:38:44Z owl:Class HP:0005328 biolink:NamedThing Progeroid facial appearance A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. tmpxe7fu0cj_hp_relaxed.owl Prematurely aged face|Premature aged appearance|Wizened face|Prematurely aged facial appearance|Aged facial appearance UMLS:C1857710 HP:0005333|HP:0000335 human_phenotype owl:Class HP:0033750 biolink:NamedThing Reduced functional residual capacity An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation. tmpxe7fu0cj_hp_relaxed.owl 2021-04-21 15:49:07+00:00 peter owl:Class HP:0032324 biolink:NamedThing Non-periodic recurrent fever Episodic fever that recurs at irregular intervals. tmpxe7fu0cj_hp_relaxed.owl 2019-02-14 11:54:53+00:00 peter owl:Class HP:0010714 biolink:NamedThing 2-4 toe syndactyly Syndactyly with fusion of toes two to four. tmpxe7fu0cj_hp_relaxed.owl Webbed 2nd-4th toes|Syndactyly of toes 2, 3 and 4|Syndactyly toes 2-4 UMLS:C4021234 sdoelken 2010-03-26T05:22:26Z HP:0005642|HP:0005708 owl:Class PATO:0000625 biolink:NamedThing inverted An oriented quality inhering in a bearer by virtue of the bearer's being reversed in position, order, or condition. tmpxe7fu0cj_hp_relaxed.owl reversed|backward quality owl:Class HP:0030974 biolink:NamedThing Cryptozoospermia A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out). tmpxe7fu0cj_hp_relaxed.owl Cryptospermia 2017-04-18 15:25:12+00:00 robinp owl:Class HP:0003715 biolink:NamedThing Myofibrillar myopathy Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. tmpxe7fu0cj_hp_relaxed.owl Myofibrillar changes UMLS:C2678065|SNOMEDCT_US:699269005|MSH:C580316 This feature is demonstrated by muscle biopsy. human_phenotype owl:Class HP:0005246 biolink:NamedThing Giant hypertrophic gastritis A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds. tmpxe7fu0cj_hp_relaxed.owl Menetrier disease MSH:D005758|SNOMEDCT_US:60002000|UMLS:C0017155|SNOMEDCT_US:413219009 human_phenotype owl:Class HP:0031799 biolink:NamedThing Decreased circulating apolipoprotein AI concentration Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease. tmpxe7fu0cj_hp_relaxed.owl Decreased apo-AI level|Decreased apolipoprotein AI level|Decreased apoA-I level 2018-02-25 15:04:10+00:00 peter owl:Class HP:0012151 biolink:NamedThing Hemothorax The presence of blood in the pleural space. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:31892009|MSH:D006491|UMLS:C0019123 Hemothorax may result from hemorrhage in the chest wall, lung parenchyma, heart, or great vessels. peter 2012-09-16T08:58:32Z human_phenotype owl:Class HP:0033418 biolink:NamedThing Elevated circulating 2-hydroxybutyric acid concentration Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 17:22:15+00:00 peter owl:Class HP:0011780 biolink:NamedThing Thyroid hemiagenesis Absence of a lobe of the thyroid gland related to a failure of its embryologic development. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023190|SNOMEDCT_US:715734006 peter 2012-04-22T06:04:32Z human_phenotype owl:Class HP:0410152 biolink:NamedThing Eosinophilic microabscess formation in the esophagus The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques. tmpxe7fu0cj_hp_relaxed.owl Eosinophilic micro-abscess formation in the esophagus|Eosinophilic micro-abscess formation in the oesophagus|Eosinophilic microabscess formation in the oesophagus 2018-03-13 04:43:53+00:00 owl:Class HP:0025719 biolink:NamedThing Maternal vascular malperfusion Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities. tmpxe7fu0cj_hp_relaxed.owl Maternal vascular malperfusion (MVM) of the placental bed represents a recognizable pattern of placental injury related to altered uterine and intervillous blood flow. MVM consists of a constellation of placental pathologic findings seen in the maternal decidual vessels, reflecting abnormal spiral artery remodeling, as well as in the villous parenchyma, reflecting abnormalities in oxygenation and flow dynamics in the intervillous space. peterrobinson owl:Class HP:5000039 biolink:NamedThing Anti-Zic4 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4). tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0002-3387-1836 owl:Class HP:0033449 biolink:NamedThing Decreased mid-arm muscle circumference Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children. tmpxe7fu0cj_hp_relaxed.owl 2021-01-09 20:38:55+00:00 peter owl:Class HP:0031517 biolink:NamedThing Verruciform xanthoma A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms. tmpxe7fu0cj_hp_relaxed.owl 2017-09-22 02:25:50+00:00 This lesion is seen chiefly in the oral mucosa. peter owl:Class HP:0033594 biolink:NamedThing Elevated urinary 7-biopterin level An abnormally increased amount of 7-biopterin in the urine. tmpxe7fu0cj_hp_relaxed.owl Primapterinuria 2021-01-30 13:02:41+00:00 peter owl:Class MAXO:0010353 biolink:NamedThing liver radiograph procedure Use of an imaging test that uses small amounts of radiation to produce pictures of liver. tmpxe7fu0cj_hp_relaxed.owl liver radiogram procedure|liver X-ray procedure|radiograph of liver|radiography of liver 2020-04-07T20:39:14Z http://orcid.org/0000-0001-7941-2961 owl:Class HP:0011010 biolink:NamedThing Chronic Slow, creeping onset, slow progress and long continuance of disease manifestations. tmpxe7fu0cj_hp_relaxed.owl Chronic SNOMEDCT_US:90734009|UMLS:C0205191 According to the U.S. National Center for Health Statistics, a chronic condition is one lasting 3 months or more. peter 2011-02-20T10:25:55Z owl:Class HP:5000008 biolink:NamedThing Anti-FGFR3 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3. tmpxe7fu0cj_hp_relaxed.owl Anti-fibroblast growth factor receptor 3 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0005050 biolink:NamedThing Anterolateral radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction. tmpxe7fu0cj_hp_relaxed.owl Anterior/lateral radial head dislocation UMLS:C1968610 human_phenotype owl:Class HP:0040122 biolink:NamedThing Impairment of the the acoustic reflex tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022425 HPO:skoehler owl:Class GO:0004494 biolink:NamedThing methylmalonyl-CoA mutase activity Catalysis of the reaction: (R)-methylmalonyl-CoA = succinyl-CoA. tmpxe7fu0cj_hp_relaxed.owl (R)-2-methyl-3-oxopropanoyl-CoA CoA-carbonylmutase activity|(S)-methylmalonyl-CoA mutase activity|methylmalonyl coenzyme A mutase activity|methylmalonyl-CoA CoA-carbonyl mutase activity|(R)-methylmalonyl-CoA CoA-carbonylmutase activity|methylmalonyl coenzyme A carbonylmutase activity Reactome:R-HSA-71010|UM-BBD_reactionID:r0922|Reactome:R-HSA-3322971|MetaCyc:METHYLMALONYL-COA-MUT-RXN|KEGG_REACTION:R00833|RHEA:22888|EC:5.4.99.2 molecular_function owl:Class HP:0030004 biolink:NamedThing Cicatricial lagophthalmos A type of lagophthalmos that occurs following trauma or surgery. tmpxe7fu0cj_hp_relaxed.owl Eyelids stay open due to scarring|Inability to close the eyelids due to scarring UMLS:C0155199|SNOMEDCT_US:9042000 owl:Class HP:0040249 biolink:NamedThing Reduced plasminogen activator inhibitor 1 antigen Reduced level of plasminogen activator inhibitor 1 antigen. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280699 Added the antigen level as diagnosis with only activity levels is very difficult due to assay problems. Activity levels of control patients also include 0 within the normal limit. This term has been requested and created by members of the BRIDGE consortium owl:Class HP:0005314 biolink:NamedThing Anomalous branches of internal carotid artery tmpxe7fu0cj_hp_relaxed.owl UMLS:C1847886 human_phenotype owl:Class HP:0005866 biolink:NamedThing Opposable triphalangeal thumb A form of triphalangeal thumb that can be placed opposite the fingers of the same hand. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025122 human_phenotype owl:Class HP:0006916 biolink:NamedThing Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons. tmpxe7fu0cj_hp_relaxed.owl Intraaxonal accumulation of curvilinear profiles UMLS:C1832339|UMLS:C4024964 human_phenotype owl:Class HP:0003219 biolink:NamedThing Ethylmalonic aciduria An increased concentration of ethylmalonic acid in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1865353 Ethylmalonic acid is a dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group. owl:Class HP:0025555 biolink:NamedThing Periungual teleangiectasia Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails. tmpxe7fu0cj_hp_relaxed.owl 2017-07-09 13:50:16+00:00 HPO:probinson owl:Class HP:0031665 biolink:NamedThing Midsystolic murmur A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 16:17:45+00:00 A common cause of midsystolic murmurs in adults is aortic stenosis. peter owl:Class HP:0012779 biolink:NamedThing Transient hearing impairment Hearing loss that occurs acutely and resolves completely. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022724 Transient hearing loss is particularly common in childhood as a result of inadequate ventilation of the middle ear. peter 2014-04-07T06:09:19Z human_phenotype owl:Class HP:0008282 biolink:NamedThing Unconjugated hyperbilirubinemia An increased amount of unconjugated (indirect) bilurubin in the blood. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:7752002|UMLS:C0268306 HP:0008289 human_phenotype owl:Class HP:0005700 biolink:NamedThing Increased bone density with cystic changes tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025151 human_phenotype owl:Class HP:4000018 biolink:NamedThing Anti-desmoplakin II antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 14:27:21+00:00 robinp owl:Class HP:0003467 biolink:NamedThing Atlantoaxial instability Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:202820009|UMLS:C0410653 Neurological deficits ensue if the odontoid process, or posterior arch of the atlas, impinges on the spinal cord. human_phenotype owl:Class HP:0004797 biolink:NamedThing Multiple small bowel atresias The presence of multiple areas of atresia affecting the small intestine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1857476 human_phenotype owl:Class HP:0011386 biolink:NamedThing Narrow internal auditory canal Reduction in diameter of the internal auditory canal. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023383 peter 2012-03-09T07:35:00Z human_phenotype owl:Class HP:0031215 biolink:NamedThing Decreased circulating dehydroepiandrosterone-sulfate concentration A reduced concentration of dehydroepiandrosterone-sulfate in the blood. tmpxe7fu0cj_hp_relaxed.owl Decreased circulating dehydroepiandrosterone-sulfate level 2017-07-02 11:31:34+00:00 DHEA is transformed into DHEA-S by sulfation at the C3beta position by sulfotransferase SULT2A1. peter owl:Class HP:0011693 biolink:NamedThing Supraventricular tachycardia with a concealed accessory pathway on the septum tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023228 peter 2012-04-10T10:38:07Z human_phenotype owl:Class HP:0009059 biolink:NamedThing Congenital generalized lipodystrophy tmpxe7fu0cj_hp_relaxed.owl Congenital generalised lipodystrophy MSH:D052497|SNOMEDCT_US:284449005|SNOMEDCT_US:86907008|UMLS:C0221032 human_phenotype owl:Class HP:0008231 biolink:NamedThing Macronodular adrenal hyperplasia tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:237778003|UMLS:C0342495 human_phenotype owl:Class HP:0006453 biolink:NamedThing Lateral displacement of the femoral head A developmental anomaly with lateral displacement of the femoral head. tmpxe7fu0cj_hp_relaxed.owl Laterally displaced femoral heads UMLS:C1855758 human_phenotype owl:Class HP:0033277 biolink:NamedThing Glomerular fibrinoid necrosis Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 16:33:47+00:00 peter owl:Class HP:0012134 biolink:NamedThing Dysplastic erythropoesis tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023032 peter 2012-09-16T08:01:11Z human_phenotype owl:Class HP:0031956 biolink:NamedThing Elevated circulating aspartate aminotransferase concentration An abnormally high concentration in the circulation of aspartate aminotransferase (AST). tmpxe7fu0cj_hp_relaxed.owl Elevated serum AST|Elevated serum glutamic oxaloacetic transaminase|Aspartate aminotransferase increased|Elevated serum aspartate aminotransferase 2018-07-07 13:54:55+00:00 peter owl:Class HP:0032452 biolink:NamedThing Oral melanoacanthoma Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions. tmpxe7fu0cj_hp_relaxed.owl 2019-03-08 11:04:08+00:00 Oral melanoacanthoma is a relatively uncommon melanocytic lesion that may cause rapid, diffuse, and dark pigmentation of a large mucosal area. However, this is an innocuous pathology that is often self-limiting and may spontaneously resolve, with or without surgical intervention. peter owl:Class HP:0032956 biolink:NamedThing Renal tubular herpes simplex virus inclusions Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0030078 biolink:NamedThing Lung adenocarcinoma tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:254626006|UMLS:C0152013|MSH:C538231|NCIT:C2852 owl:Class HP:0010849 biolink:NamedThing EEG with spike-wave complexes (>3.5 Hz) The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG). tmpxe7fu0cj_hp_relaxed.owl EEG with 3-4-Hz spike waves UMLS:C4020765|UMLS:C4023684 peter 2010-07-10T08:22:40Z HP:0007261 human_phenotype owl:Class HP:0011983 biolink:NamedThing Brown pigment gallstones A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023097 peter 2012-07-18T09:26:55Z human_phenotype owl:Class HP:0020214 biolink:NamedThing Startle-induced seizure Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus. tmpxe7fu0cj_hp_relaxed.owl Seizures are stereotyped and typically unilateral or bilateral tonic in nature. robinp 2020-02-24 13:51:07+00:00 owl:Class HP:0100254 biolink:NamedThing Stenosis of the medullary cavity of the long bones tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022179 doelkens 2010-07-14T05:13:39Z human_phenotype owl:Class HP:0001538 biolink:NamedThing Protuberant abdomen A thrusting or bulging out of the abdomen. tmpxe7fu0cj_hp_relaxed.owl Extended belly|Abdominal protuberance|Belly sticks out UMLS:C1854928 human_phenotype owl:Class HP:0025490 biolink:NamedThing Myocardial bridging A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course. tmpxe7fu0cj_hp_relaxed.owl Intramyocardial coronary artery course 2017-05-14 19:08:29+00:00 Myocardial bridging, in which a tunneled segment of the artery under the bridge of overlying myocardium frequently results in vessel compression during systole. While frequently asymptomatic, this condition in many cases may be responsible for adverse complications including angina, myocardial ischemia, acute coronary syndromes, left ventricular dysfunction, arrhythmias, and even sudden cardiac death. HPO:probinson owl:Class HP:0003752 biolink:NamedThing Episodic flaccid weakness Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025572 human_phenotype owl:Class HP:0008283 biolink:NamedThing Fasting hyperinsulinemia An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. tmpxe7fu0cj_hp_relaxed.owl High blood insulin levels while fasting UMLS:C1864954 human_phenotype owl:Class HP:0030848 biolink:NamedThing Elevated jugular venous pressure Increased jugular venous pressure. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0520861|SNOMEDCT_US:22447003 owl:Class PATO:0001354 biolink:NamedThing translucent A optical quality inhering in a bearer by virtue of the bearer's exhibiting low opacity. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0030171 biolink:NamedThing Perirenal hematoma A collection of clotted blood surrounding the kidney. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0473124|SNOMEDCT_US:197824007 The causes of a spontaneous perirenal hematoma (SPH) include immunologic disorders, neoplasms (renal cell carcinomas and adenomas), and collagen vascular diseases, but the main cause of a secondary perirenal hematoma is traumatic injury. owl:Class HP:0030721 biolink:NamedThing Tetraphocomelia Phocomelia involving all four extremities. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1849370 owl:Class HP:0003200 biolink:NamedThing Ragged-red muscle fibers An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm. tmpxe7fu0cj_hp_relaxed.owl Ragged red muscle fibers|Ragged red muscle fibres|Ragged-red muscle fibres|Ragged-red fibres|Mitochondrial proliferation in muscle tissue|Ragged-red fibers UMLS:C3275417 This finding is demonstrated by muscle biopsy. Note that additionally, muscle fibers with mitochondrial proliferation stain darkly for succinic dehydrogenase (SDH). HP:0009076 human_phenotype owl:Class HP:0025153 biolink:NamedThing Transient Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. tmpxe7fu0cj_hp_relaxed.owl 2016-12-03 22:19:26+00:00 HPO:probinson owl:Class HP:0033311 biolink:NamedThing Abdominal aortic dissection A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 22:39:58+00:00 peter owl:Class HP:0032250 biolink:NamedThing Acinetobacter infection An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay. tmpxe7fu0cj_hp_relaxed.owl 2019-01-27 16:38:23+00:00 peter owl:Class HP:0040079 biolink:NamedThing Irregular dentition tmpxe7fu0cj_hp_relaxed.owl Irregular teeth UMLS:C1856765 HPO:skoehler owl:Class HP:0002357 biolink:NamedThing Dysphasia tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:20301004|UMLS:C0973461|MSH:D001037 owl:Class HP:0011980 biolink:NamedThing Cholesterol gallstones Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0856727 peter 2012-07-18T09:16:15Z human_phenotype owl:Class HP:0033962 biolink:NamedThing Cortical radial artery medial/intimal granulomatous arteriitis A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. tmpxe7fu0cj_hp_relaxed.owl 2021-06-24 12:39:37+00:00 peter owl:Class HP:0009020 biolink:NamedThing Exercise-induced muscle fatigue An abnormally increased tendency towards muscle fatigue induced by physical exercise. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1855580 human_phenotype owl:Class HP:0008708 biolink:NamedThing Partial development of the penile shaft tmpxe7fu0cj_hp_relaxed.owl UMLS:C1837379 human_phenotype owl:Class HP:0006432 biolink:NamedThing Trapezoidal distal femoral condyles tmpxe7fu0cj_hp_relaxed.owl UMLS:C1843983 owl:Class HP:0005852 biolink:NamedThing Limited elbow extension and supination tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025124 human_phenotype owl:Class HP:0008444 biolink:NamedThing Posterior wedging of vertebral bodies An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back). tmpxe7fu0cj_hp_relaxed.owl Posterior wedging UMLS:C1969679 human_phenotype owl:Class HP:0009056 biolink:NamedThing Loss of subcutaneous adipose tissue from upper limbs tmpxe7fu0cj_hp_relaxed.owl Loss of fat tissue below the skin from upper limbs UMLS:C4024602 human_phenotype owl:Class HP:0006977 biolink:NamedThing Grammar-specific speech disorder tmpxe7fu0cj_hp_relaxed.owl Grammar-specific speech disorder UMLS:C4024956 owl:Class HP:0030017 biolink:NamedThing Vaginismus Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress. tmpxe7fu0cj_hp_relaxed.owl Pelvic floor myalgia|Myalgia of pelvic floor UMLS:C2004487|MSH:D052065|SNOMEDCT_US:79012001 Vaginismus usually develops as a conditioned response to painful penetration, or secondary to psychological/emotional factors. owl:Class HP:0100686 biolink:NamedThing Enthesitis tmpxe7fu0cj_hp_relaxed.owl Inflammation of sharpey fibres|Inflammation of sharpey fibers SNOMEDCT_US:359643005|UMLS:C1282952 doelkens 2010-12-30T02:27:20Z human_phenotype owl:Class HP:0031794 biolink:NamedThing Decreased circulating glycerol level A decrease below the normal concentration of glycerol in the blood. tmpxe7fu0cj_hp_relaxed.owl 2018-02-25 14:13:06+00:00 peter owl:Class HP:0001188 biolink:NamedThing Hand clenching An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. tmpxe7fu0cj_hp_relaxed.owl Clenched hands|Hand clenching UMLS:C0239815 Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately. human_phenotype owl:Class HP:0032959 biolink:NamedThing Intratubular calcium oxalate casts Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0003396 biolink:NamedThing Syringomyelia Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. tmpxe7fu0cj_hp_relaxed.owl Syrinx|Fluid-filled cyst in spinal cord SNOMEDCT_US:111496009|UMLS:C0039144|MSH:D013595 HP:0006933 human_phenotype owl:Class HP:0032025 biolink:NamedThing Reduced serum alpha-1-antitrypsin A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. tmpxe7fu0cj_hp_relaxed.owl 2018-09-01 14:16:39+00:00 peter owl:Class HP:0025099 biolink:NamedThing Dysgenesis of the thalamus Structural abnormality of the thalamus related to defective development. tmpxe7fu0cj_hp_relaxed.owl Thalamic dysgenesis 2016-10-28 06:51:03+00:00 Note that the term thalamic dysgenesis is generally used to refer to a morphological abnormality of the thalamus that is of presumed developmental (rather than acquired) origin. HPO:probinson owl:Class HP:0030120 biolink:NamedThing Absent muscle fiber calpain-3 Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue. tmpxe7fu0cj_hp_relaxed.owl Absent muscle fibre calpain-3 UMLS:C4022625 owl:Class HP:0008857 biolink:NamedThing Neonatal short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth. tmpxe7fu0cj_hp_relaxed.owl Short-trunk dwarfism identifiable at birth UMLS:C3149908 human_phenotype owl:Class HP:0011412 biolink:NamedThing Ventouse delivery Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. tmpxe7fu0cj_hp_relaxed.owl Vacuum extraction|Vacuum-assisted vaginal delivery UMLS:C0042225|SNOMEDCT_US:10761101000119105|UMLS:C2825567|SNOMEDCT_US:61586001|UMLS:C1456852|MSH:D014620 peter 2012-03-15T09:59:31Z human_phenotype owl:Class HP:0002343 biolink:NamedThing Normal pressure hydrocephalus A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture. tmpxe7fu0cj_hp_relaxed.owl Normal-pressure hydrocephalus MSH:D006850|UMLS:C0020258|SNOMEDCT_US:30753002 Normal pressure hydrocephalus rarely occurs in patients younger than 60 years. owl:Class HP:0005756 biolink:NamedThing Neonatal epiphyseal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period. tmpxe7fu0cj_hp_relaxed.owl Epiphyseal stippling in neonates|Speckled calcifications in bone end parts in neonates UMLS:C4021623 human_phenotype owl:Class HP:0100576 biolink:NamedThing Amaurosis fugax A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0149793|MSH:D020757|SNOMEDCT_US:88032003 doelkens 2010-12-27T12:42:59Z human_phenotype owl:Class HP:0030212 biolink:NamedThing Collectionism Excessive or pathological tendency to save and collect possessions. tmpxe7fu0cj_hp_relaxed.owl Compulsive hoarding SNOMEDCT_US:247968005|UMLS:C0424290 owl:Class HP:0031945 biolink:NamedThing Elevated circulating N,N-dimethylglycine concentration An increased concentration of N,N-dimethylglycine in the circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated N,N-dimethylglycine level 2018-07-06 11:54:09+00:00 An important metabolic pathway for choline involves its conversion into glycine via betaine aldehyde, betaine, N,N-dimethylglycine (DMG),1 and sarcosine. DMG is converted into sarcosine and sarcosine is converted into glycine by two oxidative demethylation steps mediated by DMG dehydrogenase (DMGDH; EC 1.5.99.2) and sarcosine dehydrogenase (EC 1.5.99.1), respectively. An increased concentration of DMG of DMG can caused by a deficiency of the enzyme dimethylglycine dehydrogenase (DMGDH), which normally catalyzes the conversion of DMG into sarcosine as well as the conversion of sarcosine into glycine. peter owl:Class HP:0031176 biolink:NamedThing Absent thoracic vertebra A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine. tmpxe7fu0cj_hp_relaxed.owl 2017-06-18 20:20:53+00:00 peter owl:Class HP:0003278 biolink:NamedThing Square pelvis bone An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure. tmpxe7fu0cj_hp_relaxed.owl Square pelvis bone|Squared off pelvis|Square pelvis UMLS:C1849953 human_phenotype owl:Class HP:0033441 biolink:NamedThing Elevated circulating hexanoylcarnitine concentration Increased concentration of hexanoylcarnitine in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl Elevated circulating O-hexanoylcarnitine concentration|Elevated plasma hexanoylcarnitine, C6:0 2021-01-09 18:44:30+00:00 peter owl:Class HP:0031151 biolink:NamedThing Vitreomacular traction Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad. tmpxe7fu0cj_hp_relaxed.owl VMT 2017-06-18 13:11:03+00:00 peter owl:Class HP:0001003 biolink:NamedThing Multiple lentigines Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. tmpxe7fu0cj_hp_relaxed.owl Liver spots SNOMEDCT_US:72100002|UMLS:C1328931|UMLS:C0036651 Lentigines are commonly (but not always) due to chronic sun exposure (solar lentigines; sometimes called liver spots) and occur most frequently on the face and back of the hands. human_phenotype owl:Class HP:0031976 biolink:NamedThing Increased vertical cup-to-disc ratio - 0.8 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3). tmpxe7fu0cj_hp_relaxed.owl 2018-07-08 00:15:07+00:00 peter owl:Class HP:0031848 biolink:NamedThing Cock-walk gait An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 15:45:59+00:00 peter owl:Class HP:0011544 biolink:NamedThing L-looping of the right ventricle tmpxe7fu0cj_hp_relaxed.owl UMLS:C4023307 peter 2012-04-07T11:20:04Z human_phenotype owl:Class HP:0030636 biolink:NamedThing Occult macular dystrophy Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities. tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0033604 biolink:NamedThing Glomerular capillary wire loop deposits Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 16:24:44+00:00 peter owl:Class HP:0005323 biolink:NamedThing Hemifacial hypertrophy Unilateral overgrowth of facial tissues, including muscles, bones and skin. tmpxe7fu0cj_hp_relaxed.owl Overgrowth of half of face|Facial hemihypertophy|Hypertrophy of half of face|Increase in size of half of face|Facial hemihyperplasia|Friedreich's disease|Hemifacial enlargement|Enlargement of half of face UMLS:C0016719|UMLS:C1399354|MSH:C563014|MSH:D005621|SNOMEDCT_US:10394003|SNOMEDCT_US:697962004 human_phenotype owl:Class HP:0030283 biolink:NamedThing Partial absence of the septum pellucidum Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:422474003|UMLS:C1827299 owl:Class HP:0025194 biolink:NamedThing Morgagni diaphragmatic hernia An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity. tmpxe7fu0cj_hp_relaxed.owl Morgagni hernia 2016-12-05 01:55:27+00:00 Morgagni hernias are generally accompanied by a hernia sac, and often do not cause symptoms in the newborn period. HPO:probinson owl:Class HP:0032963 biolink:NamedThing Complex renal cyst A renal cyst characterized by epithelium lined space (squamous/columnar) with septations. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0012213 biolink:NamedThing Decreased glomerular filtration rate An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. tmpxe7fu0cj_hp_relaxed.owl Impaired renal creatinine clearance|Decreased GFR|Reduced creatinine clearance UMLS:C0853068 Renal clearance is defined as the volume of plasma per minute needed to excrete the quantity of a solute appearing in the urine in a minute. Normal values for adults are 97 to 137 ml/min (male) and 88 to 128 ml/min (female). This term refers to a reduction below normal limits in the ability of the kidney to clear creatinine from the bloodstream. peter 2013-03-14T07:54:30Z HP:0000120 human_phenotype owl:Class HP:0011737 biolink:NamedThing Corticotropin-releasing hormone deficient adrenal insufficiency Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production. tmpxe7fu0cj_hp_relaxed.owl CRH deficient adrenal insufficiency|Tertiary adrenal insufficiency UMLS:C4021127 peter 2012-04-21T09:09:56Z human_phenotype owl:Class HP:0010770 biolink:NamedThing Pilonidal fistula tmpxe7fu0cj_hp_relaxed.owl MSH:D010864|SNOMEDCT_US:47639008|UMLS:C0031925 sdoelken 2010-04-29T09:55:15Z human_phenotype owl:Class HP:0005775 biolink:NamedThing Multiple skeletal anomalies tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025138 human_phenotype owl:Class PATO:0000395 biolink:NamedThing moderate intensity An intensity which is less than extreme in type or degree or effect or force. tmpxe7fu0cj_hp_relaxed.owl quality owl:Class HP:0025242 biolink:NamedThing Dot-and-blot retinal hemorrhage Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location. tmpxe7fu0cj_hp_relaxed.owl Dot-and-blot retinal haemorrhage|Round retinal heme 2016-12-17 01:25:52+00:00 Dot-ant-blot Intraretinal hemorrhages take longer to resolve than superficial hemorrhages because they're deeper than flame-shaped hemorrhages. HPO:probinson owl:Class HP:0410397 biolink:NamedThing Bronchiolectasis Saccular dilatation of the terminal bronchioles. tmpxe7fu0cj_hp_relaxed.owl Bronchiolectasia owl:Class HP:0031985 biolink:NamedThing Esophageal exudate An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa. tmpxe7fu0cj_hp_relaxed.owl 2018-07-08 14:58:59+00:00 peter owl:Class HP:0033525 biolink:NamedThing Absent sperm axoneme central pair complex Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern. tmpxe7fu0cj_hp_relaxed.owl Absent central pair complex (9+0 pattern) 2021-01-14 13:30:27+00:00 peter owl:Class HP:0033192 biolink:NamedThing Decreased circulating selenium concentration An abnormally reduced concentration of selenium in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2020-10-04 12:17:32+00:00 peter owl:Class HP:0005565 biolink:NamedThing Reduced renal corticomedullary differentiation Reduced differentiation between renal cortex and medulla on diagnostic imaging. tmpxe7fu0cj_hp_relaxed.owl Loss of definition of corticomedullary differentiation UMLS:C3807131 HP:0005573 human_phenotype owl:Class HP:0006557 biolink:NamedThing Polycystic liver disease tmpxe7fu0cj_hp_relaxed.owl UMLS:C0158683|SNOMEDCT_US:72925005|MSH:C536330 human_phenotype owl:Class HP:0011411 biolink:NamedThing Forceps delivery tmpxe7fu0cj_hp_relaxed.owl Forceps delivery UMLS:C0341808 peter 2012-03-15T09:58:47Z human_phenotype owl:Class HP:0031254 biolink:NamedThing Thalamic arteriovenous malformation An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus. tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 15:44:28+00:00 peter owl:Class HP:0009060 biolink:NamedThing Scapular muscle atrophy Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. tmpxe7fu0cj_hp_relaxed.owl UMLS:C3805969 Need to add new UBERON term for scapula muscle human_phenotype owl:Class HP:0032357 biolink:NamedThing Decreased post-bronchodilator forced vital capacity An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication. tmpxe7fu0cj_hp_relaxed.owl Decreased postbronchodilator forced vital capacity|Decreased post bronchodilator forced vital capacity 2019-02-23 17:05:42+00:00 peter owl:Class UBERON:0005160 biolink:NamedThing vestigial structure A remnant structure from earlier development or evolution. tmpxe7fu0cj_hp_relaxed.owl uberon owl:Class HP:0100608 biolink:NamedThing Metrorrhagia Bleeding at irregular intervals. tmpxe7fu0cj_hp_relaxed.owl Intermenstrual bleeding|Abnormal uterus bleeding|Menstrual spotting UMLS:C0025874|MSH:D008796|SNOMEDCT_US:237130006|SNOMEDCT_US:64996003|SNOMEDCT_US:19155002 doelkens 2010-12-27T06:14:01Z human_phenotype owl:Class HP:0100841 biolink:NamedThing Microgastria A developmental anomaly wtih a small tubular or saccular midline stomach. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0266150|SNOMEDCT_US:83714006 Patients with microgastria usually have poor growth, inadequate food consumption, or a complication of the small gastric cavity and gastroesophageal reflux, including frequent vomiting or pneumonia. doelkens 2011-06-09T06:42:10Z human_phenotype owl:Class HP:0031843 biolink:NamedThing Bradyphrenia Abnormal slowness of thought processes. tmpxe7fu0cj_hp_relaxed.owl Slowed thoughts|Slowed thinking|Slowness of thought|Mental slowness 2018-05-05 15:04:12+00:00 peter owl:Class HP:0032392 biolink:NamedThing Nodular subcortical heterotopia in peritrigonal regions Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei. tmpxe7fu0cj_hp_relaxed.owl 2019-02-24 16:05:23+00:00 peter owl:Class HP:0005178 biolink:NamedThing Complete heart block with narrow QRS complexes A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1841661 human_phenotype owl:Class HP:0500116 biolink:NamedThing Positive blood barbiturate test Detection of barbiturate metabolites such as Phenobarbital in blood. tmpxe7fu0cj_hp_relaxed.owl 2018-07-20 15:10:44+00:00 owl:Class MAXO:0010218 biolink:NamedThing carotid ultrasonography The use of ultrasound to produce images of structures in the carotid artery segment. tmpxe7fu0cj_hp_relaxed.owl sonography of carotid artery segment|carotid artery segment medical ultrasound|carotid ultrasound imaging|carotid artery segment ultrasound examination|carotid artery segment ultrasound procedure|carotid artery segment sonography|carotid artery segment ultrasound imaging procedure|carotid artery segment diagnostic sonography|ultrasonography of carotid artery segment 2020-01-24T20:39:14Z http://orcid.org/0000-0001-7941-3010 owl:Class HP:0031924 biolink:NamedThing Rope sign The presence of linear erythematous palpable cords, often on the lateral trunk. tmpxe7fu0cj_hp_relaxed.owl 2018-07-04 12:31:32+00:00 Its associations include connective tissue disease (particularly SLE), rheumatoid arthritis, autoimmune thyroiditis, carcinomas and drug reactions. Histology reveals an interstitial and palisading granulomatous dermatitis associated with piecemeal fragmentation of collagen and elastic fibres peter owl:Class HP:0031637 biolink:NamedThing Right coronary artery ostial atresia Absence of the normal opening of the coronary ostium from which the right main coronary artery originates. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 12:45:57+00:00 peter owl:Class HP:0031876 biolink:NamedThing Decreased hepcidin level An abnormally reduced concentration of hepcidin in the blood circulation. tmpxe7fu0cj_hp_relaxed.owl 2018-05-06 14:13:09+00:00 peter owl:Class PATO:0002400 biolink:NamedThing fusiform Having a spindle-like shape that is wide in the middle and tapers at both ends. tmpxe7fu0cj_hp_relaxed.owl 2012-12-07T05:43:25Z quality owl:Class HP:0006157 biolink:NamedThing Prominent palmar flexion creases tmpxe7fu0cj_hp_relaxed.owl Prominent life line UMLS:C1865131|UMLS:C4280464 human_phenotype owl:Class HP:0033069 biolink:NamedThing Renal interstitial IgG4+ plasma cell infiltration An increased number of IgG4+ plasma cells in the interstitial space of the kidney. tmpxe7fu0cj_hp_relaxed.owl IgG4-related tubulointerstitial nephritis is characterized by an increased number of IgG4+ plasma cells per high-power field on renal biopsy in addition to either elevated serum IgG4 or evidence of extra renal IgG4-related disease. peter owl:Class HP:0011223 biolink:NamedThing Metopic depression Linear vertical groove in the midline of the forehead, extending from hairline to glabella. tmpxe7fu0cj_hp_relaxed.owl Depression of frontal cranial suture|Frontal suture depression|Depression of metopic cranial suture UMLS:C4023454 peter 2011-12-07T10:34:38Z human_phenotype owl:Class HP:0031847 biolink:NamedThing Difficulty walking backward Reduced ability to walk (ambulate) in a backwards direction. tmpxe7fu0cj_hp_relaxed.owl 2018-05-05 15:41:41+00:00 We walk backward on a daily basis, such as when backing away from the kitchen sink or stepping back from a curb as a swiftly moving bus passes. This task may be particularly difficult for some individuals who can fall as a result of moving or being perturbed in the backward direction. Some individuals with Parkinson disease exhibit this feature. peter owl:Class HP:0007581 biolink:NamedThing Mediosternal, longitudinal streak of hypopigmentation tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024840 human_phenotype owl:Class HP:0031447 biolink:NamedThing Penile freckling Multiple pigmented macules located on the skin of the penis. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 14:28:54+00:00 peter owl:Class HP:0002105 biolink:NamedThing Hemoptysis Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. tmpxe7fu0cj_hp_relaxed.owl Haemoptysis|Coughing up blood|Coughing up blood or blood-stained mucus UMLS:C0019079|SNOMEDCT_US:66857006|SNOMEDCT_US:6686005|MSH:D006469 human_phenotype owl:Class HP:0032264 biolink:NamedThing Anti-NMDA receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. tmpxe7fu0cj_hp_relaxed.owl Presence of anti-NMDAR antibody in blood|Presence of anti-N-methyl-D-aspartate Receptor antibody in blood 2019-01-27 20:12:00+00:00 peter owl:Class HP:0004385 biolink:NamedThing Protracted diarrhea tmpxe7fu0cj_hp_relaxed.owl Protracted diarrhoea SNOMEDCT_US:236077008|UMLS:C0473133 peter 2008-03-18T09:00:00Z owl:Class HP:0006011 biolink:NamedThing Cuboidal metacarpal Severely shortened metacarpal with a cuboidal appearance. tmpxe7fu0cj_hp_relaxed.owl Short, cube shaped long bone of hand UMLS:C4025093 The metacarpals are normally tubular in appearance. human_phenotype owl:Class HP:0032395 biolink:NamedThing Curvilinear subcortical heterotopia Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia. tmpxe7fu0cj_hp_relaxed.owl Giant heterotopia 2019-02-24 16:08:36+00:00 peter owl:Class HP:0002511 biolink:NamedThing Alzheimer disease A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. tmpxe7fu0cj_hp_relaxed.owl Late-onset form of familial Alzheimer disease|Alzheimer disease UMLS:C0002395|SNOMEDCT_US:230267005|MSH:C536595|MONDO:0004975|DOID:10652|SNOMEDCT_US:26929004|MSH:D000544|UMLS:C1863051 Note that this is a bundled term that refers to a disease rather than to phenotypic features. It is retained for convenience since Alzheimer disease is used for annotation of other diseases (e.g., Down syndrome) as if it were a feature. If possible it is preferable to annotate with the precise phenotypic features. HP:0007213|HP:0006878 owl:Class PATO:0000616 biolink:NamedThing asymmetrical A symmetry quality inhering in a bearer by virtue of the bearer's lacking symmetry. tmpxe7fu0cj_hp_relaxed.owl asymmetric|asymmetry quality owl:Class HP:0030520 biolink:NamedThing Binasal hemianopia tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:87278000|UMLS:C0271208|MSH:D006423 owl:Class HP:0030009 biolink:NamedThing Cervical insufficiency A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent tmpxe7fu0cj_hp_relaxed.owl Incompetent cervix MSH:D002581|UMLS:C0007871|SNOMEDCT_US:17382005 One of the known risk factors for preterm birth is cervical insufficiency. owl:Class HP:0030530 biolink:NamedThing Arcuate scotoma tmpxe7fu0cj_hp_relaxed.owl Arc-shaped blind spot MSH:D012607|UMLS:C4280302|SNOMEDCT_US:15462009|UMLS:C0271198 owl:Class HP:0002971 biolink:NamedThing Absent microvilli on the surface of peripheral blood lymphocytes Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1833173 human_phenotype owl:Class HP:0030861 biolink:NamedThing Decreased CSF amyloid level Reduced concentration of amyloid in the cerebrospinal fluid (CSF). tmpxe7fu0cj_hp_relaxed.owl UMLS:C4280739 owl:Class HP:0012544 biolink:NamedThing Elevated aldolase level An increased concentration of fructose 1,6-bisphosphate aldolase in the serum. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022858 Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. peter 2013-12-21T09:18:43Z human_phenotype owl:Class HP:0002805 biolink:NamedThing Accelerated bone age after puberty tmpxe7fu0cj_hp_relaxed.owl Accelerated bone age after puberty UMLS:C1860825 human_phenotype owl:Class HP:4000045 biolink:NamedThing Spiral fracture A type of fracture in which the break spirals around the bone. tmpxe7fu0cj_hp_relaxed.owl 2021-05-02 20:50:42+00:00 robinp owl:Class HP:0030245 biolink:NamedThing Intrapartum fever The occurence of maternal fever during labor. tmpxe7fu0cj_hp_relaxed.owl Maternal fever during labor|Maternal fever during labour UMLS:C3829514 Intrapartum fever may indicate chorioamnionitis. Intrapartum fever is an important predictor of neonatal morbidity and infection-related mortality. owl:Class HP:0030490 biolink:NamedThing Exudative vitreoretinopathy tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072980 owl:Class HP:0012167 biolink:NamedThing Hair-pulling A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss. tmpxe7fu0cj_hp_relaxed.owl Trichotillomania MSH:D014256|SNOMEDCT_US:17155009|UMLS:C0040953 peter 2013-02-20T07:16:10Z human_phenotype owl:Class HP:4000021 biolink:NamedThing Anti-laminin 332 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332. tmpxe7fu0cj_hp_relaxed.owl Anti-laminin 5 antibody positivity 2021-05-02 14:31:15+00:00 Anti-laminin gamma1 pemphigoid (ALG1P) is an autoimmune subepidermal bullous disease characterized by autoantibodies to a 200-kDa acidic noncollagenous glycoprotein of the lower lamina lucida. In contrast, anti-laminin-332 mucous membrane pemphigoid (MMP) is an autoimmune blistering disease characterized by autoantibodies to various subunits of laminin-332 of the basement membrane. robinp owl:Class HP:0020088 biolink:NamedThing Post-vaccination measles Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases. tmpxe7fu0cj_hp_relaxed.owl Vaccine associated measles 2019-04-08 17:31:45+00:00 robinp owl:Class HP:0033924 biolink:NamedThing Renal arteriole neutrophil endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen. tmpxe7fu0cj_hp_relaxed.owl Endoarterial hypercellularity within arterioles consisting of neutrophils 2021-06-24 01:04:25+00:00 peter owl:Class HP:0010798 biolink:NamedThing Lip freckle Increased focal pigmentation of the vermilion of the lips. tmpxe7fu0cj_hp_relaxed.owl Lip lentigo|Ephelis of lip|Labial lentigo|Lip freckle SNOMEDCT_US:239136007|UMLS:C0406814 Lip freckles may be accompanied by Perioral hyperpigmentation, but this should be assessed separately. Lentigo is commonly used as a synonym for freckle in reference to the vermilion, but these are distinct terms when referring to the skin. peter 2010-06-26T01:59:19Z human_phenotype owl:Class HP:0031715 biolink:NamedThing Near exotropia An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant). tmpxe7fu0cj_hp_relaxed.owl 2018-01-13 13:30:16+00:00 peter owl:Class MPATH:70 biolink:NamedThing fistula An abnormal passage between two internal organs or leading from a cavity to the body surface. tmpxe7fu0cj_hp_relaxed.owl mouse_pathology.ontology owl:Class HP:0005522 biolink:NamedThing Pyridoxine-responsive sideroblastic anemia A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment. tmpxe7fu0cj_hp_relaxed.owl Pyridoxine-responsive sideroblastic anaemia SNOMEDCT_US:191260004|SNOMEDCT_US:25443007|UMLS:C0272027 human_phenotype owl:Class HP:0006110 biolink:NamedThing Shortening of all middle phalanges of the fingers Short, hypoplastic middle phalanx of finger, affecting all fingers. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1856912 human_phenotype owl:Class HP:0100291 biolink:NamedThing Abnormality of central somatosensory evoked potentials tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022163 doelkens 2010-08-10T01:31:37Z human_phenotype owl:Class HP:0034146 biolink:NamedThing Anti-glycyl tRNA-synthetase antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase. tmpxe7fu0cj_hp_relaxed.owl Anti-EJ antibody positivity 2021-12-23 13:55:22+00:00 peter owl:Class HP:0010562 biolink:NamedThing Keloids tmpxe7fu0cj_hp_relaxed.owl UMLS:C0022548|MSH:D007627|SNOMEDCT_US:33659008|SNOMEDCT_US:58405006|MEDDRA:10023330 peter 2009-10-15T07:39:56Z human_phenotype owl:Class HP:0031011 biolink:NamedThing Fatty streak Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV. tmpxe7fu0cj_hp_relaxed.owl Sudanophilic lesion 2017-05-18 02:35:32+00:00 Some early studies used the terms sudanophilic lesion or sudanophilia to refer to fatty streaks. peter owl:Class HP:0100638 biolink:NamedThing Neoplasm of the pharynx A neoplasm originating in the pharynx. tmpxe7fu0cj_hp_relaxed.owl Tumour of the pharynx|Neoplasia of the pharynx|Pharyngeal neoplasm|Tumor of the pharynx SNOMEDCT_US:126685009|MSH:D010610|NCIT:C3262|UMLS:C0031347 Tumors of pharynx may present with nonspecific findings such as otalgia or unilateral otitis media. doelkens 2010-12-29T05:31:55Z HP:0030073 human_phenotype owl:Class HP:0005191 biolink:NamedThing Congenital knee dislocation tmpxe7fu0cj_hp_relaxed.owl Dislocated knee since birth UMLS:C0265669|SNOMEDCT_US:59068006 human_phenotype owl:Class HP:0004926 biolink:NamedThing Orthostatic hypotension due to autonomic dysfunction tmpxe7fu0cj_hp_relaxed.owl UMLS:C1868528 human_phenotype owl:Class HP:0000263 biolink:NamedThing Oxycephaly Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull. tmpxe7fu0cj_hp_relaxed.owl Acrocephaly MSH:D003398 owl:Class HP:0005272 biolink:NamedThing Prominent nasolabial fold Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure). tmpxe7fu0cj_hp_relaxed.owl Prominent laugh lines|Prominent smile lines|Deep smile lines|Deep nasolabial crease|Deep nasolabial groove|Nasolabial crease, prominent|Prominent nasolabial groove|Deep laugh lines|Deep nasolabial fold UMLS:C1866487 human_phenotype owl:Class HP:0030983 biolink:NamedThing Ovarian thecoma A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types. tmpxe7fu0cj_hp_relaxed.owl 2017-05-31 00:22:37+00:00 robinp owl:Class HP:0003779 biolink:NamedThing Antegonial notching of mandible tmpxe7fu0cj_hp_relaxed.owl Large antegonial notch of mandible|Deep antegonial notch of mandible UMLS:C1844509 human_phenotype owl:Class HP:0006918 biolink:NamedThing Diffuse cerebral sclerosis tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:49692006|UMLS:C0007795|MSH:D002549 human_phenotype owl:Class HP:0006311 biolink:NamedThing Generalized microdontia A generalized form of microdontia. tmpxe7fu0cj_hp_relaxed.owl Hypotrophy of all teeth|Decreased tooth mass|Generalised microdontia|Decreased size of all teeth|Tooth mass insufficiency|Decreased width of all teeth UMLS:C4025065 human_phenotype owl:Class HP:0030399 biolink:NamedThing Abnormal platelet alpha granule secretion Abnormal release of alpha granule contents from platelets. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4072932 owl:Class HP:0040230 biolink:NamedThing Decreased level of tissue plasminogen activator The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis tmpxe7fu0cj_hp_relaxed.owl Decreased level of tPA UMLS:C4280714 Requested and created by members of the BRIDGE consortium owl:Class HP:0007506 biolink:NamedThing Congenital absence of skin of limbs tmpxe7fu0cj_hp_relaxed.owl Missing skin on limbs since birth UMLS:C4024858 human_phenotype owl:Class HP:0033985 biolink:NamedThing Elongated femoral neck Increased length of the neck of the femur. tmpxe7fu0cj_hp_relaxed.owl Long femoral neck 2021-07-15 11:54:11+00:00 peter owl:Class HP:0031467 biolink:NamedThing Negative affectivity A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 16:33:45+00:00 peter owl:Class HP:0033308 biolink:NamedThing Patellar overgrowth Excessive growth of the kneecap (patella). tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 22:15:11+00:00 peter owl:Class HP:0031666 biolink:NamedThing Late systolic murmur A murmur that occurs in the latter phase of systole. tmpxe7fu0cj_hp_relaxed.owl 2017-12-17 16:19:04+00:00 A late systolic murmur heard best at the apex of the heart may indicate mitral valve prolapse. peter owl:Class HP:5000003 biolink:NamedThing Anti-ARHGAP26 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26). tmpxe7fu0cj_hp_relaxed.owl Anti-Ca antibody|Anti-RhoGTPase-activating protein 26 antibody ORCID:0000-0002-3387-1836 owl:Class HP:0033392 biolink:NamedThing Perivascular pre-capillary pulmonary artery inflammation Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer). tmpxe7fu0cj_hp_relaxed.owl Perivascular inflammation of arterioles in the pulmonary circulation|Perivascular inflammation of pre-capillary pulmonary arteries 2021-01-06 12:33:56+00:00 peter owl:Class HP:0031779 biolink:NamedThing Excyclophoria A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other. tmpxe7fu0cj_hp_relaxed.owl 2018-01-27 11:47:57+00:00 peter owl:Class HP:0012068 biolink:NamedThing Aspartylglucosaminuria Excretion of excess amounts of aspartylglucosamine in the urine. tmpxe7fu0cj_hp_relaxed.owl High urine aspartylglucosamine levels MSH:D054880|UMLS:C0268225|SNOMEDCT_US:54954004 hecht 2012-08-04T03:15:37Z human_phenotype owl:Class HP:0032561 biolink:NamedThing Microcephalic sperm head Decreased size of the head of sperm. tmpxe7fu0cj_hp_relaxed.owl Small-head sperm 2019-06-15 00:25:50+00:00 peter owl:Class HP:0008087 biolink:NamedThing Nonossified fifth metatarsal The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1844712 human_phenotype owl:Class HP:0005640 biolink:NamedThing Abnormal vertebral segmentation and fusion tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025167 human_phenotype owl:Class HP:0031963 biolink:NamedThing Decreased serum anion gap An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). tmpxe7fu0cj_hp_relaxed.owl 2018-07-07 14:31:52+00:00 Low values of the serum anion gap most commonly indicate laboratory error or hypoalbuminemia but can denote the presence of a paraproteinemia or intoxication with lithium, bromide, or iodide. peter owl:Class HP:0007057 biolink:NamedThing Poor hand-eye coordination tmpxe7fu0cj_hp_relaxed.owl UMLS:C1845864 human_phenotype owl:Class HP:0004752 biolink:NamedThing Congenital atrioventricular dissociation A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025299 human_phenotype owl:Class HP:0031491 biolink:NamedThing Continuous spike and waves during slow sleep Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. tmpxe7fu0cj_hp_relaxed.owl CSWS|Electrical status epilepticus during slow-wave sleep 2017-09-18 00:34:28+00:00 peter owl:Class HP:0032460 biolink:NamedThing Decreased phosphoribosylpyrophosphate synthetase level Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. tmpxe7fu0cj_hp_relaxed.owl 2019-03-09 17:35:02+00:00 It is difficult to assay PRS1 enzyme activity separately from that of the other two isoforms (PRS2 and PRS3), a decrease in PRS enzyme activity may be assumed to reflect decreased activity of PRS1, not PRS2 or PRS3. peter owl:Class HP:0031203 biolink:NamedThing Fatty casts A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. tmpxe7fu0cj_hp_relaxed.owl 2017-06-27 11:10:06+00:00 The presence of fatty casts in urine may be associated with heavy proteinuria in patients with nephrotic syndrome. peter owl:Class HP:0005716 biolink:NamedThing Lethal skeletal dysplasia tmpxe7fu0cj_hp_relaxed.owl Lethal dwarfism identifiable at birth UMLS:C4021626 HP:0008898 human_phenotype owl:Class HP:0040302 biolink:NamedThing Hyperglycerolemia Increased concentration of glycerol in the blood. tmpxe7fu0cj_hp_relaxed.owl Pseudohypertriglyceridemia In glycerol kinase deficiency, the increased glycerol concentration has been noted to cause false-positive results of hypertriglyceridemia, a phenomenon called pseudohypertriglyceridemia. owl:Class HP:0410350 biolink:NamedThing Increased urinary fucosylated oligosaccharide An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine. tmpxe7fu0cj_hp_relaxed.owl Increased concentration of fucosylated oligosaccharides in urine owl:Class HP:0020077 biolink:NamedThing Carnitinuria An elevated level of carnitine in the urine. tmpxe7fu0cj_hp_relaxed.owl 2019-02-25 13:29:26+00:00 robinp owl:Class HP:0012710 biolink:NamedThing Ingrown nail Excessive growth of a nail laterally into the nail fold. tmpxe7fu0cj_hp_relaxed.owl Ingrown nail UMLS:C0027343|MSH:D009263|SNOMEDCT_US:400200009|SNOMEDCT_US:400097005 peter 2014-03-23T12:09:47Z owl:Class HP:0500072 biolink:NamedThing Absolute eccentric fixation Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation. tmpxe7fu0cj_hp_relaxed.owl 2018-02-26 18:22:07+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0001060 biolink:NamedThing Axillary pterygium Presence of a cutaneous membrane (flap) in the armpit. tmpxe7fu0cj_hp_relaxed.owl Axillary pterygia UMLS:C1844738 human_phenotype owl:Class NBO:0000024 biolink:NamedThing sleeping behavior "Behavior related to the readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals." [NBO:GVG] GO:0030431 tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T01:03:39Z George Gkoutos behavior_ontology owl:Class HP:0033269 biolink:NamedThing Glomerular capillary collapse Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). tmpxe7fu0cj_hp_relaxed.owl Collapse of glomerular capillary walls 2020-11-28 16:04:12+00:00 Wrinkling and folding of the glomerular basemement membrane (GBM) with partial or complete occlusion of the capillary lumen: wrinkling and folding of the GBM with partial or complete occlusion of the capillary lumen. The wrinkling is generally made by small and/or big irregular folds of the GBM. peter owl:Class UBERON:0010423 biolink:NamedThing primary lymphoid nodule of tonsil A primary nodular lymphoid tissue that is part of a tonsil. tmpxe7fu0cj_hp_relaxed.owl lymphoid nodule of tonsil FMA:86018 uberon owl:Class HP:0033928 biolink:NamedThing Arcuate artery endoarterial foam cell hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. tmpxe7fu0cj_hp_relaxed.owl Endoarterial hypercellularity within arcuate artery consisting of foam cells 2021-06-24 01:13:37+00:00 peter owl:Class HP:0033149 biolink:NamedThing Intrahepatic bile duct dilatation Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). tmpxe7fu0cj_hp_relaxed.owl Dilatation of intrahepatic biliary ducts 2020-09-19 12:51:16+00:00 peter owl:Class HP:0020082 biolink:NamedThing Heinz bodies A type of erythrocyte inclusion composed of denatured hemoglobin. tmpxe7fu0cj_hp_relaxed.owl 2019-02-25 14:00:35+00:00 robinp owl:Class HP:0006434 biolink:NamedThing Hypoplasia of proximal radius Proximal radial shortening owing to a congenital defect of development. tmpxe7fu0cj_hp_relaxed.owl Proximal radial shortening UMLS:C1859477 HP:0006365 human_phenotype owl:Class HP:0033741 biolink:NamedThing Grade IV vesicoureteral reflux Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter. tmpxe7fu0cj_hp_relaxed.owl VUR IV|Grade IV VUR 2021-04-16 14:15:59+00:00 peter owl:Class HP:0011824 biolink:NamedThing Chin with H-shaped crease H-shaped crease in the fat pad of the chin. tmpxe7fu0cj_hp_relaxed.owl Chin with H-shaped crease|Chin, H-Shaped Crease|Chin, H-shaped groove|H-shaped dimple of the chin UMLS:C1860309 The H-shape must be distinguished from Vertical crease of the chin. peter 2012-04-30T08:34:24Z human_phenotype owl:Class HP:0000585 biolink:NamedThing Band keratopathy An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation. tmpxe7fu0cj_hp_relaxed.owl Calcific band keratopathy UMLS:C0155120|SNOMEDCT_US:35055000|MSH:C562399 human_phenotype owl:Class HP:0012240 biolink:NamedThing Increased intramyocellular lipid droplets An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images. tmpxe7fu0cj_hp_relaxed.owl Increased muscle lipid droplets UMLS:C4020730 In normal muscle cells, lipid content takes the aspect of small droplets which concentration and size are usually higher in type 1 fibres than in type 2 fibres. peter 2013-04-01T05:17:37Z human_phenotype owl:Class HP:0002519 biolink:NamedThing Hypnagogic hallucinations Fleeting perceptual experiences that occur during the transition from wakefulness to sleep. tmpxe7fu0cj_hp_relaxed.owl MSH:D006212|UMLS:C0233773|SNOMEDCT_US:44780000 Hypnagogic hallucinations are visual, auditory and tactile sensations are most commonly reported . Visual phenomena typically consist of kaleidoscopically changing phenomena such as geometric patterns, shapes and light flashes. Images involving animals, people and faces, and scenes also occur and are described as lifelike, highly detailed and colorful. Voices and other sounds (phone, doorbell, music) occur less commonly. They comprise vivid auditory impressions of words or names, people talking, and environmental or animal sounds. Somatic experiences also occur, including bodily distortions, feelings of weightlessness, flying or falling, and a sense of presence in the room. owl:Class HP:0031240 biolink:NamedThing Juxtafoveal choroidal neovascularization A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea. tmpxe7fu0cj_hp_relaxed.owl 2017-07-02 21:26:56+00:00 peter owl:Class HP:0200150 biolink:NamedThing Increased serum bile acid concentration during pregnancy tmpxe7fu0cj_hp_relaxed.owl Increased serum bile acid concentration during pregnancy, resolves UMLS:C4020695|UMLS:C4021882 sebastiankohler 2013-06-13T01:05:40Z human_phenotype owl:Class HP:0032946 biolink:NamedThing Renal cortical interstitial inflammation Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0033116 biolink:NamedThing Duodenal gastric metaplasia Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border. tmpxe7fu0cj_hp_relaxed.owl 2020-09-03 11:59:20+00:00 Despite structural analogy, the epithelium in the duodenal gastric metaplasia (DGM) differs from true gastric epithelium with respect to lectin composition. DGM is considered to be an acquired condition related to gastric acid injury and H pylori may also be associated in its pathogenesis peter owl:Class HP:0006206 biolink:NamedThing Hypersegmentation of proximal phalanx of second finger Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025080 This anomaly is characteristic for brachydactyly type C. human_phenotype owl:Class HP:0004381 biolink:NamedThing Supravalvular aortic stenosis A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0003499|MSH:D021921|Fyler:1430|SNOMEDCT_US:268185002 peter 2008-03-18T08:54:00Z owl:Class HP:0025222 biolink:NamedThing Triggered by sleep deprivation Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep. tmpxe7fu0cj_hp_relaxed.owl Sleep deprivation triggered symptoms|Triggered by sleep deprivation 2016-12-10 14:07:29+00:00 HPO:probinson owl:Class HP:0033615 biolink:NamedThing Displaced tracheal bronchus Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus. tmpxe7fu0cj_hp_relaxed.owl 2021-01-30 22:31:43+00:00 peter owl:Class HP:0009880 biolink:NamedThing Broad distal phalanges of all fingers Abnormally wide (broad) distal phalanx of finger of all fingers. tmpxe7fu0cj_hp_relaxed.owl Broad outermost hand bones UMLS:C4024174 doelkens 2009-04-24T04:18:59Z HP:0005816 human_phenotype owl:Class HP:0040091 biolink:NamedThing Asymmetry of the size of ears tmpxe7fu0cj_hp_relaxed.owl Asymmetry of the size of ears UMLS:C4022446 HPO:skoehler owl:Class HP:0031017 biolink:NamedThing Swiss cheese atrial septal defect Multiple defects in the atrial septum. tmpxe7fu0cj_hp_relaxed.owl 2017-05-20 11:43:29+00:00 The label derives from the resemblance of the multiple atrial defects to Emmental cheese, a medium-hard cheese of Swiss origin that features characteristic holes. peter owl:Class HP:0100960 biolink:NamedThing Asymmetric ventricles tmpxe7fu0cj_hp_relaxed.owl UMLS:C4021909 doelkens 2012-01-18T05:47:26Z owl:Class HP:0003558 biolink:NamedThing Viral infection-induced rhabdomyolysis Rhabdomyolysis induced by a viral infection. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4025595 human_phenotype owl:Class HP:0006881 biolink:NamedThing Diffuse peripheral demyelination A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024971 human_phenotype owl:Class HP:0001334 biolink:NamedThing Communicating hydrocephalus A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space. tmpxe7fu0cj_hp_relaxed.owl UMLS:C0009451|MSH:D006849|SNOMEDCT_US:271569006 Communicating hydrocephalus may be caused by overproduction of CSF, defective absorption of CSF (the most common cause) or venous drainage insufficiency. owl:Class HP:0012282 biolink:NamedThing Morbilliform rash An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:247470007|SNOMEDCT_US:50495000|UMLS:C0234918 A morbilliform rash is said to resemble the rash of measles, rubella or scarlet fever, thus mimicking viral and bacterial exanthemas. peter 2013-04-07T10:11:58Z owl:Class HP:0032301 biolink:NamedThing Genital warts Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress. tmpxe7fu0cj_hp_relaxed.owl 2019-02-12 23:10:40+00:00 Genital warts are the clinical manifestations of a sexually transmitted disease caused by some types of human papillomavirus (HPV). peter owl:Class HP:0033027 biolink:NamedThing Retinal peau d'orange A pebbly orange appearance of the fundus that is said to resemble the skin of an orange. tmpxe7fu0cj_hp_relaxed.owl Retinal peau d'orange is a common finding in pseudoxanthoma elasticum. peter owl:Class HP:0033287 biolink:NamedThing Glomerular basement membrane lucencies Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 21:13:41+00:00 This feature can be observed on silver staining or electron microscopy. peter owl:Class HP:0100317 biolink:NamedThing Argyrophilic inclusion bodies Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue. tmpxe7fu0cj_hp_relaxed.owl Pick inclusion bodies|Agyrophilic inclusion bodies UMLS:C4021022 doelkens 2010-08-10T03:35:26Z human_phenotype owl:Class HP:0032122 biolink:NamedThing Very low visual acuity A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590). tmpxe7fu0cj_hp_relaxed.owl 2018-11-18 14:04:38+00:00 peter owl:Class HP:0010829 biolink:NamedThing Impaired temperature sensation A reduced ability to discriminate between different temperatures. tmpxe7fu0cj_hp_relaxed.owl Abnormality of temperature sensation|Impaired thermal sensitivity|Impaired temperature sensation|Loss of temperature sensation UMLS:C4021222 Temperature sensation can be tested by touching the skin several seconds with a water flask filled to the desired temperature. Persons with normal temperature sensation should at least be able to identify as warm a flask that is 35-36 degrees C and identify as cool a flask at 28-32 degrees C. peter 2010-07-10T07:08:10Z HP:0006901|HP:0100772 owl:Class HP:0006731 biolink:NamedThing Follicular thyroid carcinoma The presence of an follicular adenocarcinoma of the thyroid gland. tmpxe7fu0cj_hp_relaxed.owl NCIT:C8054|UMLS:C0206682|SNOMEDCT_US:28173006|SNOMEDCT_US:5257006|SNOMEDCT_US:255028004|MSH:D018263 human_phenotype owl:Class HP:0030252 biolink:NamedThing Absent circulating B cells Complete lack of mature B cells, that is, of B cells that have left the bone marrow. tmpxe7fu0cj_hp_relaxed.owl Absence of mature B cells UMLS:C4022558 owl:Class PATO:0000651 biolink:NamedThing unfused from A structural quality inhering in a bearer by virtue of the bearer's being no longer merged with another entity. tmpxe7fu0cj_hp_relaxed.owl unfused quality owl:Class HP:0031276 biolink:NamedThing Obstructive shock A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism). tmpxe7fu0cj_hp_relaxed.owl 2017-08-12 21:01:37+00:00 peter owl:Class HP:0500089 biolink:NamedThing Optic nerve sheath meningioma A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2. tmpxe7fu0cj_hp_relaxed.owl 2018-03-20 20:36:12+00:00 owl:Class HP:0025107 biolink:NamedThing Cutis marmorata telangiectatica congenita A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible. tmpxe7fu0cj_hp_relaxed.owl 2016-10-29 00:22:27+00:00 HPO:probinson owl:Class HP:0410051 biolink:NamedThing Increased level of 3-hydroxy-3-methylglutaric acid in urine An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl 2018-01-27 01:26:32+00:00 ORCID:0000-0001-5208-3432 owl:Class HP:0012218 biolink:NamedThing Alveolar soft part sarcoma A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:88195001|MSH:D018234|SNOMEDCT_US:404056007|UMLS:C0206657 peter 2013-03-30T06:48:50Z human_phenotype owl:Class HP:0005872 biolink:NamedThing Brachytelomesophalangy Disproportionately short middle and distal phalanges compared to the hand/foot. tmpxe7fu0cj_hp_relaxed.owl Progressive brachydactyly of middle and distal phalanges|Short middle and distal phalanges of digits ii through v UMLS:C1847408 HP:0006093|HP:0005777 human_phenotype owl:Class HP:0000749 biolink:NamedThing Paroxysmal bursts of laughter tmpxe7fu0cj_hp_relaxed.owl Paroxysmal laughter UMLS:C1839749 human_phenotype owl:Class HP:0032584 biolink:NamedThing Renal interstitial neutrophil infiltration Increased numbers of neutrophils in the interstitial tissues of the kidney. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0006069 biolink:NamedThing Severe carpal ossification delay tmpxe7fu0cj_hp_relaxed.owl Severe delay in maturation of wrist bone UMLS:C4280466|UMLS:C1866703 human_phenotype owl:Class HP:0034071 biolink:NamedThing Anti-21-hydroxylase antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase. tmpxe7fu0cj_hp_relaxed.owl Anti-P450c21 2021-12-18 14:39:15+00:00 peter owl:Class HP:0045034 biolink:NamedThing Elevated urinary aminoisobutyric acid An increased amount of 3-aminoisobutyric acid in the urine. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4022393 HPO:skoehler owl:Class HP:0500078 biolink:NamedThing Alternating hypotropia A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards. tmpxe7fu0cj_hp_relaxed.owl 2018-02-26 19:22:54+00:00 ORCID:0000-0001-7941-2961 owl:Class HP:0031582 biolink:NamedThing Tessier number 10 facial cleft In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric. tmpxe7fu0cj_hp_relaxed.owl 2017-10-14 12:49:41+00:00 peter owl:Class HP:0001501 biolink:NamedThing 6 metacarpals tmpxe7fu0cj_hp_relaxed.owl 6 long bones of hand UMLS:C1861360 human_phenotype owl:Class HP:0032596 biolink:NamedThing Renal tubular epithelial cell cytoplasmic vacuolization Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. tmpxe7fu0cj_hp_relaxed.owl peter owl:Class HP:0009732 biolink:NamedThing Plexiform neurofibroma A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. tmpxe7fu0cj_hp_relaxed.owl MSH:D018318|SNOMEDCT_US:403818001|UMLS:C0206728|SNOMEDCT_US:41252002 peter 2009-01-31T11:12:32Z human_phenotype owl:Class HP:0410372 biolink:NamedThing Increased Tn-antigen level An abnormal increase in the concentration of Tn antigen on glycoproteins. tmpxe7fu0cj_hp_relaxed.owl Increased O-GalNac on glycoprotein concentration owl:Class NBO:0000621 biolink:NamedThing selective mutism "A communication disorder in which a person, most often a child, who is normally capable of speech is unable to speak in given situations, or to specific people." [wikipedia:Selective_mutism] HP:0002300 tmpxe7fu0cj_hp_relaxed.owl 2011-04-14T05:06:03Z George Gkoutos behavior_ontology owl:Class HP:0012827 biolink:NamedThing Borderline Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean. tmpxe7fu0cj_hp_relaxed.owl Borderline UMLS:C0205189 PATO:0000394, mild. peter 2014-06-06T06:52:16Z human_phenotype owl:Class HP:0006852 biolink:NamedThing Episodic generalized hypotonia The occurrence of repeated episodes of generalized muscular hypotonia. tmpxe7fu0cj_hp_relaxed.owl Episodic generalised hypotonia UMLS:C4024976 human_phenotype owl:Class HP:0006837 biolink:NamedThing Congenital Horner syndrome A type of Horner syndrome with congenital onset. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1840475|MSH:C564178 human_phenotype owl:Class HP:0031296 biolink:NamedThing Atrial septal hypertrophy An abnormal increase in the thickness of the atrial septum. tmpxe7fu0cj_hp_relaxed.owl 2017-08-13 21:41:59+00:00 peter owl:Class HP:0031446 biolink:NamedThing Erosion of oral mucosa Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion. tmpxe7fu0cj_hp_relaxed.owl 2017-09-17 14:19:12+00:00 peter owl:Class HP:0010860 biolink:NamedThing Complete breech presentation A kind of breech presentation in which the hips are flexed and the knees are flexed. tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:49168004|UMLS:C0233283|MSH:D001946 peter 2010-08-03T12:34:30Z human_phenotype owl:Class NBO:0000417 biolink:NamedThing physiologic nystagmus "A form of involuntary eye movement that is part of the vestibulo-ocular reflex (VOR). It is characterized by alternating smooth pursuit in one direction and saccadic movement in the other direction." [wikipedia:Physiologic_nystagmus] tmpxe7fu0cj_hp_relaxed.owl 2011-04-06T06:16:20Z George Gkoutos behavior_ontology owl:Class HP:0000537 biolink:NamedThing Epicanthus inversus A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus. tmpxe7fu0cj_hp_relaxed.owl UMLS:C1303003|SNOMEDCT_US:400956000 human_phenotype owl:Class HP:0008935 biolink:NamedThing Generalized neonatal hypotonia Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. tmpxe7fu0cj_hp_relaxed.owl Generalised low muscle tone in neonate|Generalized low muscle tone in neonate|Hypotonia, neonatal, generalised|Hypotonia, neonatal, generalized|Generalised neonatal hypotonia UMLS:C1845123 human_phenotype owl:Class HP:0007830 biolink:NamedThing Adult-onset night blindness Inability to see well at night or in poor light with onset in adulthood. tmpxe7fu0cj_hp_relaxed.owl Adult-onset night blindness UMLS:C4024790 human_phenotype owl:Class HP:0003559 biolink:NamedThing Muscle hyperirritability tmpxe7fu0cj_hp_relaxed.owl UMLS:C1853701 human_phenotype owl:Class HP:0011655 biolink:NamedThing Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. tmpxe7fu0cj_hp_relaxed.owl DORV with subaortic VSD and pulmonary stenosis UMLS:C4023244 peter 2012-04-09T10:06:46Z human_phenotype owl:Class HP:0031579 biolink:NamedThing Tessier number 7 facial cleft The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate. tmpxe7fu0cj_hp_relaxed.owl Tessier cleft number 7|Tessier facial cleft number 7 2017-10-14 12:45:44+00:00 peter owl:Class HP:0011256 biolink:NamedThing Crus of helix connected to antihelix Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix. tmpxe7fu0cj_hp_relaxed.owl Helix, crus, connected to antihelix UMLS:C4021184 peter 2011-12-18T05:51:54Z human_phenotype owl:Class HP:0031827 biolink:NamedThing Absent abdominal reflex Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus. tmpxe7fu0cj_hp_relaxed.owl Abdominal reflex absent 2018-05-02 01:07:23+00:00 A normal abdominal reflex can be observed as a brisk contraction of the umbilicus toward the quadrant that is stimulated. An absent abdominal reflex can point to neurological disease but may also be absent due to other causes such as obesity. peter owl:Class HP:0031729 biolink:NamedThing Moderate hypermetropia A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters. tmpxe7fu0cj_hp_relaxed.owl Moderate hyperopia 2018-01-21 13:20:25+00:00 peter owl:Class HP:0034074 biolink:NamedThing Increased fetal long bone echogenicity An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypermineralization. tmpxe7fu0cj_hp_relaxed.owl 2021-12-18 14:51:01+00:00 peter owl:Class HP:0001040 biolink:NamedThing Multiple pterygia tmpxe7fu0cj_hp_relaxed.owl UMLS:C1867448 human_phenotype owl:Class HP:0008320 biolink:NamedThing Impaired collagen-induced platelet aggregation Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. tmpxe7fu0cj_hp_relaxed.owl UMLS:C4024703 human_phenotype owl:Class HP:0410171 biolink:NamedThing Increased cotinine level Increased concentration of cotinine in urine. tmpxe7fu0cj_hp_relaxed.owl 2018-05-18 17:47:54+00:00 Cotinine is the main metabolite of nicotine and accumulates in the body as a result of tobacco exposure. In humans, cotinine is excreted in the urine, mainly as trans-3[prime]-hydroxycotinine and glucuronide. This is used as a measure for exposure to tobacco smoke. owl:Class HP:0033009 biolink:NamedThing Increased fecal coproporphyrin 1 Abnormally high concentration of coproporphyrin 3 in feces. tmpxe7fu0cj_hp_relaxed.owl Elevated fecal coproporphyrin 1|High fecal coproporphyrin 1|Elevated stool coproporphyrin 1|High stool coproporphyrin 1|Elevated faecal coproporphyrin 1|High faecal coproporphyrin 1|Increased faecal coproporphyrin 1 peter owl:Class HP:0011795 biolink:NamedThing Intralobar nephroblastomatosis Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it). tmpxe7fu0cj_hp_relaxed.owl SNOMEDCT_US:405934001|UMLS:C1319016 peter 2012-04-22T07:50:10Z human_phenotype owl:Class UBERON:0015149 biolink:NamedThing ventral hair A strand of hair that is part of a ventrum. tmpxe7fu0cj_hp_relaxed.owl ventral coat hair uberon owl:Class HP:0011811 biolink:NamedThing Impaired touch localization A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip. tmpxe7fu0cj_hp_relaxed.owl Impaired touch localisation|Impaired topognosis UMLS:C4021120 peter 2012-04-28T02:54:44Z human_phenotype owl:Class HP:0100882 biolink:NamedThing Fibrous hamartoma A rare, benign soft tissue tumor that typically occurs within the first two years of life. tmpxe7fu0cj_hp_relaxed.owl Fibrous hamartoma of infancy SNOMEDCT_US:56364004|UMLS:C0265979|SNOMEDCT_US:22257004 doelkens 2011-12-01T02:48:30Z human_phenotype owl:Class HP:0040078 biolink:NamedThing Axonal degeneration tmpxe7fu0cj_hp_relaxed.owl UMLS:C1837496 HPO:skoehler owl:Class HP:0003930 biolink:NamedThing Lytic defects of humeral diaphysis tmpxe7fu0cj_hp_relaxed.owl Humeral diaphyseal lysis UMLS:C4021705 human_phenotype owl:Class HP:0033035 biolink:NamedThing Abnormal Schwann cell morphology Abormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function. tmpxe7fu0cj_hp_relaxed.owl Abnormal neurilemmal cell morphology|Abnormal neurilemmocyte morphology peter owl:Class CHEBI:22984 biolink:NamedThing calcium atom tmpxe7fu0cj_hp_relaxed.owl calcio|Kalzium|Ca|calcium|Calcium|20Ca 0 Ca InChI=1S/Ca OYPRJOBELJOOCE-UHFFFAOYSA-N 40.07800 39.96259 [Ca] KEGG:C00076|CAS:7440-70-2|WebElements:Ca|DrugBank:DB01373 chebi_ontology owl:Class RO:0001025 biolink:NamedThing located in a relation between two independent continuants, the target and the location, in which the target is entirely within the location|a relation between two independent continuants, the target and the location, in which the target is entirely within the location tmpxe7fu0cj_hp_relaxed.owl located_in|located_in RO:0001025|RO:0001025 Location as a relation between instances: The primitive instance-level relation c located_in r at t reflects the fact that each continuant is at any given time associated with exactly one spatial region, namely its exact location. Following we can use this relation to define a further instance-level location relation - not between a continuant and the region which it exactly occupies, but rather between one continuant and another. c is located in c1, in this sense, whenever the spatial region occupied by c is part_of the spatial region occupied by c1. Note that this relation comprehends both the relation of exact location between one continuant and another which obtains when r and r1 are identical (for example, when a portion of fluid exactly fills a cavity), as well as those sorts of inexact location relations which obtain, for example, between brain and head or between ovum and uterus|Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Location as a relation between instances: The primitive instance-level relation c located_in r at t reflects the fact that each continuant is at any given time associated with exactly one spatial region, namely its exact location. Following we can use this relation to define a further instance-level location relation - not between a continuant and the region which it exactly occupies, but rather between one continuant and another. c is located in c1, in this sense, whenever the spatial region occupied by c is part_of the spatial region occupied by c1. Note that this relation comprehends both the relation of exact location between one continuant and another which obtains when r and r1 are identical (for example, when a portion of fluid exactly fills a cavity), as well as those sorts of inexact location relations which obtain, for example, between brain and head or between ovum and uterus located in|located in my brain is located in my head|this rat is located in this cage|my brain is located in my head|this rat is located in this cage uberon|protein|protein|uberon located_in|located_in http://www.obofoundry.org/ro/#OBO_REL:located_in|http://www.obofoundry.org/ro/#OBO_REL:located_in owl:ObjectProperty RO:0001901 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:valid_for_go_gp2term biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty RO:0002177 biolink:NamedThing attached to part of a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b.|a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. tmpxe7fu0cj_hp_relaxed.owl attached to part of (anatomical structure to anatomical structure)|attached to part of (anatomical structure to anatomical structure) RO:0002177|RO:0002177 uberon|uberon attaches_to_part_of|attaches_to_part_of owl:ObjectProperty RO:0002567 biolink:NamedThing biomechanically related to A relation that holds between elements of a musculoskeletal system or its analogs.|A relation that holds between elements of a musculoskeletal system or its analogs. tmpxe7fu0cj_hp_relaxed.owl Do not use this relation directly. It is ended as a grouping for a diverse set of relations, all involving the biomechanical processes.|Do not use this relation directly. It is ended as a grouping for a diverse set of relations, all involving the biomechanical processes. Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002323 biolink:NamedThing mereotopologically related to A mereological relationship or a topological relationship|A mereological relationship or a topological relationship tmpxe7fu0cj_hp_relaxed.owl Do not use this relation directly. It is ended as a grouping for a diverse set of relations, all involving parthood or connectivity relationships|Do not use this relation directly. It is ended as a grouping for a diverse set of relations, all involving parthood or connectivity relationships Chris Mungall|Chris Mungall owl:ObjectProperty RO:0004031 biolink:NamedThing enables subfunction Holds between an entity and an process P where the entity enables some larger compound process, and that larger process has-part P.|Holds between an entity and an process P where the entity enables some larger compound process, and that larger process has-part P. tmpxe7fu0cj_hp_relaxed.owl cjm|cjm 2018-01-25 23:20:13+00:00|2018-01-25 23:20:13+00:00 owl:ObjectProperty RO:0002328 biolink:NamedThing functionally related to A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities.|A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities. tmpxe7fu0cj_hp_relaxed.owl RO:0002328|RO:0002328 This is a grouping relation that collects relations used for the purpose of connecting structure and function|This is a grouping relation that collects relations used for the purpose of connecting structure and function uberon|uberon functionally_related_to|functionally_related_to Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002157 biolink:NamedThing has derived by descendant inverse of derived by descent from|inverse of derived by descent from tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty RO:0002320 biolink:NamedThing evolutionarily related to A relationship that holds via some environmental process|A relationship that holds via some environmental process tmpxe7fu0cj_hp_relaxed.owl Do not use this relation directly. It is ended as a grouping for a diverse set of relations, all involving the process of evolution.|Do not use this relation directly. It is ended as a grouping for a diverse set of relations, all involving the process of evolution. Chris Mungall|Chris Mungall owl:ObjectProperty BSPO:0000126 biolink:NamedThing in_lateral_side_of X in lateral side of Y <=> if X is in left side of Y or X is in right side of Y. X is often, but not always a paired structure|X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure.|X in lateral side of Y <=> if X is in left side of Y or X is in right side of Y. X is often, but not always a paired structure|X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure. tmpxe7fu0cj_hp_relaxed.owl BSPO:0000126|BSPO:0000126 uberon|uberon https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern|https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern in_lateral_side_of|in_lateral_side_of owl:ObjectProperty BFO:0000050 biolink:NamedThing part of a core relation that holds between a part and its whole|a core relation that holds between a part and its whole|a core relation that holds between a part and its whole|a core relation that holds between a part and its whole tmpxe7fu0cj_hp_relaxed.owl part_of|part_of|part_of|part_of BFO:0000050|BFO:0000050 Everything is part of itself. Any part of any part of a thing is itself part of that thing. Two distinct things cannot be part of each other.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Parthood requires the part and the whole to have compatible classes: only an occurrent can be part of an occurrent; only a process can be part of a process; only a continuant can be part of a continuant; only an independent continuant can be part of an independent continuant; only an immaterial entity can be part of an immaterial entity; only a specifically dependent continuant can be part of a specifically dependent continuant; only a generically dependent continuant can be part of a generically dependent continuant. (This list is not exhaustive.) A continuant cannot be part of an occurrent: use 'participates in'. An occurrent cannot be part of a continuant: use 'has participant'. A material entity cannot be part of an immaterial entity: use 'has location'. A specifically dependent continuant cannot be part of an independent continuant: use 'inheres in'. An independent continuant cannot be part of a specifically dependent continuant: use 'bearer of'.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See https://code.google.com/p/obo-relations/wiki/ROAndTime|Parthood requires the part and the whole to have compatible classes: only an occurrent can be part of an occurrent; only a process can be part of a process; only a continuant can be part of a continuant; only an independent continuant can be part of an independent continuant; only an immaterial entity can be part of an immaterial entity; only a specifically dependent continuant can be part of a specifically dependent continuant; only a generically dependent continuant can be part of a generically dependent continuant. (This list is not exhaustive.) A continuant cannot be part of an occurrent: use 'participates in'. An occurrent cannot be part of a continuant: use 'has participant'. A material entity cannot be part of an immaterial entity: use 'has location'. A specifically dependent continuant cannot be part of an independent continuant: use 'inheres in'. An independent continuant cannot be part of a specifically dependent continuant: use 'bearer of'.|Everything is part of itself. Any part of any part of a thing is itself part of that thing. Two distinct things cannot be part of each other.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See https://code.google.com/p/obo-relations/wiki/ROAndTime|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Parthood requires the part and the whole to have compatible classes: only an occurrent can be part of an occurrent; only a process can be part of a process; only a continuant can be part of a continuant; only an independent continuant can be part of an independent continuant; only an immaterial entity can be part of an immaterial entity; only a specifically dependent continuant can be part of a specifically dependent continuant; only a generically dependent continuant can be part of a generically dependent continuant. (This list is not exhaustive.) A continuant cannot be part of an occurrent: use 'participates in'. An occurrent cannot be part of a continuant: use 'has participant'. A material entity cannot be part of an immaterial entity: use 'has location'. A specifically dependent continuant cannot be part of an independent continuant: use 'inheres in'. An independent continuant cannot be part of a specifically dependent continuant: use 'bearer of'.|Parthood requires the part and the whole to have compatible classes: only an occurrent can be part of an occurrent; only a process can be part of a process; only a continuant can be part of a continuant; only an independent continuant can be part of an independent continuant; only an immaterial entity can be part of an immaterial entity; only a specifically dependent continuant can be part of a specifically dependent continuant; only a generically dependent continuant can be part of a generically dependent continuant. (This list is not exhaustive.) A continuant cannot be part of an occurrent: use 'participates in'. An occurrent cannot be part of a continuant: use 'has participant'. A material entity cannot be part of an immaterial entity: use 'has location'. A specifically dependent continuant cannot be part of an independent continuant: use 'inheres in'. An independent continuant cannot be part of a specifically dependent continuant: use 'bearer of'.|Everything is part of itself. Any part of any part of a thing is itself part of that thing. Two distinct things cannot be part of each other.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Everything is part of itself. Any part of any part of a thing is itself part of that thing. Two distinct things cannot be part of each other. is part of|is part of|is part of|is part of my brain is part of my body (continuant parthood, two material entities)|my brain is part of my body (continuant parthood, two material entities)|my stomach cavity is part of my stomach (continuant parthood, immaterial entity is part of material entity)|this day is part of this year (occurrent parthood)|my stomach cavity is part of my stomach (continuant parthood, immaterial entity is part of material entity)|this day is part of this year (occurrent parthood)|my brain is part of my body (continuant parthood, two material entities)|my stomach cavity is part of my stomach (continuant parthood, immaterial entity is part of material entity)|my brain is part of my body (continuant parthood, two material entities)|this day is part of this year (occurrent parthood)|this day is part of this year (occurrent parthood)|my stomach cavity is part of my stomach (continuant parthood, immaterial entity is part of material entity) human_stages_ontology|quality|uberon|external|protein|human_stages_ontology|protein|uberon|quality|external http://www.obofoundry.org/ro/#OBO_REL:part_of|http://www.obofoundry.org/ro/#OBO_REL:part_of part_of|part_of owl:ObjectProperty UBERON_CORE:in_central_side_of biolink:NamedThing in_central_side_of X in_central_side Y <=> if Y is subdivided into left and right portions around some median divisor, all parts of X are closer to the median divisor than the outermost lateral sides.|X in_central_side Y <=> if Y is subdivided into left and right portions around some median divisor, all parts of X are closer to the median divisor than the outermost lateral sides. tmpxe7fu0cj_hp_relaxed.owl uberon|uberon https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern|https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern owl:ObjectProperty RO:0002335 biolink:NamedThing negatively regulated by inverse of negatively regulates|inverse of negatively regulates tmpxe7fu0cj_hp_relaxed.owl RO:0002335|RO:0002335 external|external negatively_regulated_by|negatively_regulated_by Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002334 biolink:NamedThing regulated by inverse of regulates|inverse of regulates tmpxe7fu0cj_hp_relaxed.owl regulated by (processual)|regulated by (processual) RO:0002334|RO:0002334 external|external regulated_by|regulated_by Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002259 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty RO:0002411 biolink:NamedThing causally upstream of p is causally upstream of q if and only if p precedes q and p and q are linked in a causal chain|p is causally upstream of q if and only if p precedes q and p and q are linked in a causal chain tmpxe7fu0cj_hp_relaxed.owl RO:0002411|RO:0002411 external|external causally_upstream_of|causally_upstream_of Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002418 biolink:NamedThing causally upstream of or within p 'causally upstream or within' q iff (1) the end of p is before the end of q and (2) the execution of p exerts some causal influence over the outputs of q; i.e. if p was abolished or the outputs of p were to be modified, this would necessarily affect q.|p 'causally upstream or within' q iff (1) the end of p is before the end of q and (2) the execution of p exerts some causal influence over the outputs of q; i.e. if p was abolished or the outputs of p were to be modified, this would necessarily affect q. tmpxe7fu0cj_hp_relaxed.owl affects influences (processual)|influences (processual) RO:0002418|RO:0002418 We would like to make this disjoint with 'preceded by', but this is prohibited in OWL2|We would like to make this disjoint with 'preceded by', but this is prohibited in OWL2 external|external causally_upstream_of_or_within|causally_upstream_of_or_within Chris Mungall|Chris Mungall owl:TransitiveProperty BFO:0000063 biolink:NamedThing precedes x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. tmpxe7fu0cj_hp_relaxed.owl BFO:0000063|BFO:0000063 precedes|precedes external|uberon|uberon|external precedes|precedes owl:ObjectProperty IAO:0000428 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:valid_for_gocam biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:valid_for_go_annotation_extension biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty RO:0002571 biolink:NamedThing lumen of x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull.|x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. tmpxe7fu0cj_hp_relaxed.owl RO:0002571|RO:0002571 GOC:cjm|GOC:cjm uberon|uberon lumen_of|lumen_of Chris Mungall|Chris Mungall owl:ObjectProperty OBO:ro/subsets#ro-eco biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty RO:0002448 biolink:NamedThing directly regulates activity of The entity A, immediately upstream of the entity B, has an activity that regulates an activity performed by B. For example, A and B may be gene products and binding of B by A regulates the kinase activity of B. A and B can be physically interacting but not necessarily. Immediately upstream means there are no intermediate entity between A and B.|The entity A, immediately upstream of the entity B, has an activity that regulates an activity performed by B. For example, A and B may be gene products and binding of B by A regulates the kinase activity of B. A and B can be physically interacting but not necessarily. Immediately upstream means there are no intermediate entity between A and B. tmpxe7fu0cj_hp_relaxed.owl molecularly controls Vasundra Touré|Chris Mungall|Vasundra Touré|Chris Mungall owl:ObjectProperty RO:0011002 biolink:NamedThing regulates activity of The entity A has an activity that regulates an activity of the entity B. For example, A and B are gene products where the catalytic activity of A regulates the kinase activity of B.|The entity A has an activity that regulates an activity of the entity B. For example, A and B are gene products where the catalytic activity of A regulates the kinase activity of B. tmpxe7fu0cj_hp_relaxed.owl Vasundra Touré|Vasundra Touré owl:ObjectProperty RO:0002436 biolink:NamedThing molecularly interacts with An interaction relationship in which the two partners are molecular entities that directly physically interact with each other for example via a stable binding interaction or a brief interaction during which one modifies the other.|An interaction relationship in which the two partners are molecular entities that directly physically interact with each other for example via a stable binding interaction or a brief interaction during which one modifies the other. tmpxe7fu0cj_hp_relaxed.owl molecularly binds with|binds|molecularly binds with|binds http://purl.obolibrary.org/obo/MI_0915|http://purl.obolibrary.org/obo/MI_0915 Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002376 biolink:NamedThing tributary_of x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein.|x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. tmpxe7fu0cj_hp_relaxed.owl drains into tributary channel of|drains to|drains into|tributary channel of|drains to|drains into RO:0002376|RO:0002376 This relation can be used for geographic features (e.g. rivers) as well as anatomical structures (veins, arteries)|This relation can be used for geographic features (e.g. rivers) as well as anatomical structures (veins, arteries) http://www.medindia.net/glossary/venous_tributary.htm|http://en.wikipedia.org/wiki/Tributary|http://en.wikipedia.org/wiki/Tributary|http://www.medindia.net/glossary/venous_tributary.htm Deschutes River tributary_of Columbia River|inferior epigastric vein tributary_of external iliac vein|Deschutes River tributary_of Columbia River|inferior epigastric vein tributary_of external iliac vein uberon|uberon http://en.wikipedia.org/wiki/Tributary|http://en.wikipedia.org/wiki/Tributary tributary_of|tributary_of Chris Mungall|Chris Mungall owl:ObjectProperty http://dbpedia.org/ontology/drainsTo biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002170 biolink:NamedThing connected to Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship.|a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b|Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship.|a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b tmpxe7fu0cj_hp_relaxed.owl RO:0002170|RO:0002170 Connection does not imply overlaps.|Connection does not imply overlaps. a 'toe distal phalanx bone' that is connected to a 'toe medial phalanx bone' (an interphalangeal joint *connects* these two bones).|a 'toe distal phalanx bone' that is connected to a 'toe medial phalanx bone' (an interphalangeal joint *connects* these two bones). uberon|uberon https://github.com/obophenotype/uberon/wiki/Connectivity-Design-Pattern|https://github.com/obophenotype/uberon/wiki/Modeling-articulations-Design-Pattern|https://github.com/obophenotype/uberon/wiki/Connectivity-Design-Pattern|https://github.com/obophenotype/uberon/wiki/Modeling-articulations-Design-Pattern connected_to|connected_to owl:ObjectProperty RO:0002375 biolink:NamedThing in branching relationship with A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network.|A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. tmpxe7fu0cj_hp_relaxed.owl This relation can be used for geographic features (e.g. rivers) as well as anatomical structures (plant branches and roots, leaf veins, animal veins, arteries, nerves)|Do not use this relation directly. It is ended as a grouping for a diverse set of relations, all involving branching relationships|Do not use this relation directly. It is ended as a grouping for a diverse set of relations, all involving branching relationships|This relation can be used for geographic features (e.g. rivers) as well as anatomical structures (plant branches and roots, leaf veins, animal veins, arteries, nerves) https://github.com/obophenotype/uberon/issues/170|https://github.com/obophenotype/uberon/issues/170 Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002576 biolink:NamedThing skeleton of inverse of has skeleton|inverse of has skeleton tmpxe7fu0cj_hp_relaxed.owl RO:0002576|RO:0002576 uberon|uberon skeleton_of|skeleton_of Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002551 biolink:NamedThing has skeleton A relation between a segment or subdivision of an organism and the maximal subdivision of material entities that provides structural support for that segment or subdivision.|A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision.|A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision.|A relation between a segment or subdivision of an organism and the maximal subdivision of material entities that provides structural support for that segment or subdivision. tmpxe7fu0cj_hp_relaxed.owl has sekeletal support|has supporting framework has supporting framework|has supporting framework RO:0002551|RO:0002551 The skeleton of a structure may be a true skeleton (for example, the bony skeleton of a hand) or any kind of support framework (the hydrostatic skeleton of a sea star, the exoskeleton of an insect, the cytoskeleton of a cell).|The skeleton of a structure may be a true skeleton (for example, the bony skeleton of a hand) or any kind of support framework (the hydrostatic skeleton of a sea star, the exoskeleton of an insect, the cytoskeleton of a cell). Forelimb SubClassOf has_skeleton some 'Forelimb skeleton'|Forelimb SubClassOf has_skeleton some 'Forelimb skeleton' uberon|uberon has_skeleton|has_skeleton Chris Mungall|Chris Mungall owl:ObjectProperty BFO:0000051 biolink:NamedThing has part Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2.|a core relation that holds between a whole and its part|a core relation that holds between a whole and its part|Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2.|a core relation that holds between a whole and its part|a core relation that holds between a whole and its part tmpxe7fu0cj_hp_relaxed.owl has_part|has_part|has_part|has_part BFO:0000051|BFO:0000051 We use the has_part relation to relate complex qualities to more primitive ones. A complex quality is a collection of qualities. The complex quality cannot exist without the sub-qualities. For example, the quality 'swollen' necessarily comes with the qualities of 'protruding' and 'increased size'.|We use the has_part relation to relate complex qualities to more primitive ones. A complex quality is a collection of qualities. The complex quality cannot exist without the sub-qualities. For example, the quality 'swollen' necessarily comes with the qualities of 'protruding' and 'increased size'. Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Parthood requires the part and the whole to have compatible classes: only an occurrent have an occurrent as part; only a process can have a process as part; only a continuant can have a continuant as part; only an independent continuant can have an independent continuant as part; only a specifically dependent continuant can have a specifically dependent continuant as part; only a generically dependent continuant can have a generically dependent continuant as part. (This list is not exhaustive.) A continuant cannot have an occurrent as part: use 'participates in'. An occurrent cannot have a continuant as part: use 'has participant'. An immaterial entity cannot have a material entity as part: use 'location of'. An independent continuant cannot have a specifically dependent continuant as part: use 'bearer of'. A specifically dependent continuant cannot have an independent continuant as part: use 'inheres in'.|Everything has itself as a part. Any part of any part of a thing is itself part of that thing. Two distinct things cannot have each other as a part.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See https://code.google.com/p/obo-relations/wiki/ROAndTime|Everything has itself as a part. Any part of any part of a thing is itself part of that thing. Two distinct things cannot have each other as a part.|Parthood requires the part and the whole to have compatible classes: only an occurrent have an occurrent as part; only a process can have a process as part; only a continuant can have a continuant as part; only an independent continuant can have an independent continuant as part; only a specifically dependent continuant can have a specifically dependent continuant as part; only a generically dependent continuant can have a generically dependent continuant as part. (This list is not exhaustive.) A continuant cannot have an occurrent as part: use 'participates in'. An occurrent cannot have a continuant as part: use 'has participant'. An immaterial entity cannot have a material entity as part: use 'location of'. An independent continuant cannot have a specifically dependent continuant as part: use 'bearer of'. A specifically dependent continuant cannot have an independent continuant as part: use 'inheres in'.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Everything has itself as a part. Any part of any part of a thing is itself part of that thing. Two distinct things cannot have each other as a part.|Parthood requires the part and the whole to have compatible classes: only an occurrent have an occurrent as part; only a process can have a process as part; only a continuant can have a continuant as part; only an independent continuant can have an independent continuant as part; only a specifically dependent continuant can have a specifically dependent continuant as part; only a generically dependent continuant can have a generically dependent continuant as part. (This list is not exhaustive.) A continuant cannot have an occurrent as part: use 'participates in'. An occurrent cannot have a continuant as part: use 'has participant'. An immaterial entity cannot have a material entity as part: use 'location of'. An independent continuant cannot have a specifically dependent continuant as part: use 'bearer of'. A specifically dependent continuant cannot have an independent continuant as part: use 'inheres in'.|Everything has itself as a part. Any part of any part of a thing is itself part of that thing. Two distinct things cannot have each other as a part.|Parthood requires the part and the whole to have compatible classes: only an occurrent have an occurrent as part; only a process can have a process as part; only a continuant can have a continuant as part; only an independent continuant can have an independent continuant as part; only a specifically dependent continuant can have a specifically dependent continuant as part; only a generically dependent continuant can have a generically dependent continuant as part. (This list is not exhaustive.) A continuant cannot have an occurrent as part: use 'participates in'. An occurrent cannot have a continuant as part: use 'has participant'. An immaterial entity cannot have a material entity as part: use 'location of'. An independent continuant cannot have a specifically dependent continuant as part: use 'bearer of'. A specifically dependent continuant cannot have an independent continuant as part: use 'inheres in'.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See https://code.google.com/p/obo-relations/wiki/ROAndTime|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/ has part|has part|has part|has part my stomach has part my stomach cavity (continuant parthood, material entity has part immaterial entity)|my body has part my brain (continuant parthood, two material entities)|this year has part this day (occurrent parthood)|my body has part my brain (continuant parthood, two material entities)|my stomach has part my stomach cavity (continuant parthood, material entity has part immaterial entity)|this year has part this day (occurrent parthood)|my stomach has part my stomach cavity (continuant parthood, material entity has part immaterial entity)|my body has part my brain (continuant parthood, two material entities)|this year has part this day (occurrent parthood)|my body has part my brain (continuant parthood, two material entities)|my stomach has part my stomach cavity (continuant parthood, material entity has part immaterial entity)|this year has part this day (occurrent parthood) external|chebi_ontology|protein|quality|uberon|uberon|quality|chebi_ontology|protein|external has_part|has_part owl:TransitiveProperty RO:0002410 biolink:NamedThing causally related to This relation groups causal relations between material entities and causal relations between processes|This relation groups causal relations between material entities and causal relations between processes tmpxe7fu0cj_hp_relaxed.owl Do not use this relation directly. It is intended as a grouping for a diverse set of relations, all involving cause and effect.|Do not use this relation directly. It is intended as a grouping for a diverse set of relations, all involving cause and effect. This branch of the ontology deals with causal relations between entities. It is divided into two branches: causal relations between occurrents/processes, and causal relations between material entities. We take an 'activity flow-centric approach', with the former as primary, and define causal relations between material entities in terms of causal relations between occurrents. To define causal relations in an activity-flow type network, we make use of 3 primitives: * Temporal: how do the intervals of the two occurrents relate? * Is the causal relation regulatory? * Is the influence positive or negative The first of these can be formalized in terms of the Allen Interval Algebra. Informally, the 3 bins we care about are 'direct', 'indirect' or overlapping. Note that all causal relations should be classified under a RO temporal relation (see the branch under 'temporally related to'). Note that all causal relations are temporal, but not all temporal relations are causal. Two occurrents can be related in time without being causally connected. We take causal influence to be primitive, elucidated as being such that has the upstream changed, some qualities of the donwstream would necessarily be modified. For the second, we consider a relationship to be regulatory if the system in which the activities occur is capable of altering the relationship to achieve some objective. This could include changing the rate of production of a molecule. For the third, we consider the effect of the upstream process on the output(s) of the downstream process. If the level of output is increased, or the rate of production of the output is increased, then the direction is increased. Direction can be positive, negative or neutral or capable of either direction. Two positives in succession yield a positive, two negatives in succession yield a positive, otherwise the default assumption is that the net effect is canceled and the influence is neutral. Each of these 3 primitives can be composed to yield a cross-product of different relation types.|This branch of the ontology deals with causal relations between entities. It is divided into two branches: causal relations between occurrents/processes, and causal relations between material entities. We take an 'activity flow-centric approach', with the former as primary, and define causal relations between material entities in terms of causal relations between occurrents. To define causal relations in an activity-flow type network, we make use of 3 primitives: * Temporal: how do the intervals of the two occurrents relate? * Is the causal relation regulatory? * Is the influence positive or negative The first of these can be formalized in terms of the Allen Interval Algebra. Informally, the 3 bins we care about are 'direct', 'indirect' or overlapping. Note that all causal relations should be classified under a RO temporal relation (see the branch under 'temporally related to'). Note that all causal relations are temporal, but not all temporal relations are causal. Two occurrents can be related in time without being causally connected. We take causal influence to be primitive, elucidated as being such that has the upstream changed, some qualities of the donwstream would necessarily be modified. For the second, we consider a relationship to be regulatory if the system in which the activities occur is capable of altering the relationship to achieve some objective. This could include changing the rate of production of a molecule. For the third, we consider the effect of the upstream process on the output(s) of the downstream process. If the level of output is increased, or the rate of production of the output is increased, then the direction is increased. Direction can be positive, negative or neutral or capable of either direction. Two positives in succession yield a positive, two negatives in succession yield a positive, otherwise the default assumption is that the net effect is canceled and the influence is neutral. Each of these 3 primitives can be composed to yield a cross-product of different relation types. Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002178 biolink:NamedThing supplies Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy.|relation between an artery and the structure is supplies with blood.|Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy.|relation between an artery and the structure is supplies with blood. tmpxe7fu0cj_hp_relaxed.owl arterial supply of RO:0002178|RO:0002178 source: FMA|source: FMA Individual ontologies should provide their own constraints on this abstract relation. For example, in the realm of anatomy this should hold between an artery and an anatomical structure|Individual ontologies should provide their own constraints on this abstract relation. For example, in the realm of anatomy this should hold between an artery and an anatomical structure uberon|uberon supplies|supplies owl:ObjectProperty FMA:86003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PMID:20064205 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002503 biolink:NamedThing towards q towards e2 if and only if q is a relational quality such that q inheres-in some e, and e != e2 and q is dependent on e2|q towards e2 if and only if q is a relational quality such that q inheres-in some e, and e != e2 and q is dependent on e2 tmpxe7fu0cj_hp_relaxed.owl RO:0002503|RO:0002503 This relation is provided in order to support the use of relational qualities such as 'concentration of'; for example, the concentration of C in V is a quality that inheres in V, but pertains to C.|This relation is provided in order to support the use of relational qualities such as 'concentration of'; for example, the concentration of C in V is a quality that inheres in V, but pertains to C. towards|towards Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002502 biolink:NamedThing depends on tmpxe7fu0cj_hp_relaxed.owl Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002487 biolink:NamedThing relation between physical entity and a process or stage tmpxe7fu0cj_hp_relaxed.owl Do not use this relation directly. It is ended as a grouping for a diverse set of relations, typically connecting an anatomical entity to a biological process or developmental stage.|Do not use this relation directly. It is ended as a grouping for a diverse set of relations, typically connecting an anatomical entity to a biological process or developmental stage. Chris Mungall|Chris Mungall owl:ObjectProperty BSPO:0015014 biolink:NamedThing immediately_superficial_to x immediately superficial to y iff x superficial to y and x is contiguous with y.|x immediately superficial to y iff x superficial to y and x is contiguous with y. tmpxe7fu0cj_hp_relaxed.owl BSPO:0015014|BSPO:0015014 uberon|uberon immediately_superficial_to|immediately_superficial_to owl:ObjectProperty RO:0002220 biolink:NamedThing adjacent to x adjacent to y if and only if x and y share a boundary.|x adjacent_to y iff: x and y share a boundary.|x adjacent to y if and only if x and y share a boundary.|x adjacent_to y iff: x and y share a boundary. tmpxe7fu0cj_hp_relaxed.owl RO:0002220|RO:0002220 This relation acts as a join point with BSPO|This relation acts as a join point with BSPO A caterpillar walking on the surface of a leaf is adjacent_to the leaf, if one of the caterpillar appendages is touching the leaf. In contrast, a butterfly flying close to a flower is not considered adjacent, unless there are any touching parts.|The epidermis layer of a vertebrate is adjacent to the dermis.|The plasma membrane of a cell is adjacent to the cytoplasm, and also to the cell lumen which the cytoplasm occupies.|The skin of the forelimb is adjacent to the skin of the torso if these are considered anatomical subdivisions with a defined border. Otherwise a relation such as continuous_with would be used.|The plasma membrane of a cell is adjacent to the cytoplasm, and also to the cell lumen which the cytoplasm occupies.|The skin of the forelimb is adjacent to the skin of the torso if these are considered anatomical subdivisions with a defined border. Otherwise a relation such as continuous_with would be used.|A caterpillar walking on the surface of a leaf is adjacent_to the leaf, if one of the caterpillar appendages is touching the leaf. In contrast, a butterfly flying close to a flower is not considered adjacent, unless there are any touching parts.|The epidermis layer of a vertebrate is adjacent to the dermis. uberon|external|uberon|external adjacent_to|adjacent_to Chris Mungall|Chris Mungall owl:SymmetricProperty BSPO:0000108 biolink:NamedThing superficial_to Near the outer surface of the organism. Thus, skin is superficial to the muscle layer.|Near the outer surface of the organism. Thus, skin is superficial to the muscle layer. tmpxe7fu0cj_hp_relaxed.owl BSPO:0000108|BSPO:0000108 uberon|uberon superficial_to|superficial_to owl:ObjectProperty RO:0002017 biolink:NamedThing has component activity tmpxe7fu0cj_hp_relaxed.owl A 'has component activity' B if A is A and B are molecular functions (GO_0003674) and A has_component B.|A 'has component activity' B if A is A and B are molecular functions (GO_0003674) and A has_component B. dos|dos 2017-05-24 09:44:33+00:00|2017-05-24 09:44:33+00:00 owl:ObjectProperty RO:0002018 biolink:NamedThing has component process w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type.|w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. tmpxe7fu0cj_hp_relaxed.owl dos|dos 2017-05-24 09:49:21+00:00|2017-05-24 09:49:21+00:00 owl:ObjectProperty RO:0002404 biolink:NamedThing causally downstream of inverse of upstream of|inverse of upstream of tmpxe7fu0cj_hp_relaxed.owl RO:0002404|RO:0002404 external|external causally_downstream_of|causally_downstream_of Chris Mungall|Chris Mungall owl:ObjectProperty BFO:0000062 biolink:NamedThing preceded by X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X).|X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X)|x is preceded by y if and only if the time point at which y ends is before or equivalent to the time point at which x starts. Formally: x preceded by y iff ω(y) <= α(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X).|X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X)|x is preceded by y if and only if the time point at which y ends is before or equivalent to the time point at which x starts. Formally: x preceded by y iff ω(y) <= α(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. tmpxe7fu0cj_hp_relaxed.owl is preceded by|takes place after preceded_by|is preceded by|preceded_by|is preceded by BFO:0000062|BFO:0000062 An example is: translation preceded_by transcription; aging preceded_by development (not however death preceded_by aging). Where derives_from links classes of continuants, preceded_by links classes of processes. Clearly, however, these two relations are not independent of each other. Thus if cells of type C1 derive_from cells of type C, then any cell division involving an instance of C1 in a given lineage is preceded_by cellular processes involving an instance of C. The assertion P preceded_by P1 tells us something about Ps in general: that is, it tells us something about what happened earlier, given what we know about what happened later. Thus it does not provide information pointing in the opposite direction, concerning instances of P1 in general; that is, that each is such as to be succeeded by some instance of P. Note that an assertion to the effect that P preceded_by P1 is rather weak; it tells us little about the relations between the underlying instances in virtue of which the preceded_by relation obtains. Typically we will be interested in stronger relations, for example in the relation immediately_preceded_by, or in relations which combine preceded_by with a condition to the effect that the corresponding instances of P and P1 share participants, or that their participants are connected by relations of derivation, or (as a first step along the road to a treatment of causality) that the one process in some way affects (for example, initiates or regulates) the other.|An example is: translation preceded_by transcription; aging preceded_by development (not however death preceded_by aging). Where derives_from links classes of continuants, preceded_by links classes of processes. Clearly, however, these two relations are not independent of each other. Thus if cells of type C1 derive_from cells of type C, then any cell division involving an instance of C1 in a given lineage is preceded_by cellular processes involving an instance of C. The assertion P preceded_by P1 tells us something about Ps in general: that is, it tells us something about what happened earlier, given what we know about what happened later. Thus it does not provide information pointing in the opposite direction, concerning instances of P1 in general; that is, that each is such as to be succeeded by some instance of P. Note that an assertion to the effect that P preceded_by P1 is rather weak; it tells us little about the relations between the underlying instances in virtue of which the preceded_by relation obtains. Typically we will be interested in stronger relations, for example in the relation immediately_preceded_by, or in relations which combine preceded_by with a condition to the effect that the corresponding instances of P and P1 share participants, or that their participants are connected by relations of derivation, or (as a first step along the road to a treatment of causality) that the one process in some way affects (for example, initiates or regulates) the other. preceded by|preceded by external|human_stages_ontology|uberon|external|human_stages_ontology|uberon preceded_by|preceded_by http://www.obofoundry.org/ro/#OBO_REL:preceded_by|http://www.obofoundry.org/ro/#OBO_REL:preceded_by owl:TransitiveProperty RO:0002427 biolink:NamedThing causally downstream of or within inverse of causally upstream of or within|inverse of causally upstream of or within tmpxe7fu0cj_hp_relaxed.owl RO:0002427|RO:0002427 external|external causally_downstream_of_or_within|causally_downstream_of_or_within Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002211 biolink:NamedThing regulates process(P1) regulates process(P2) iff: P1 results in the initiation or termination of P2 OR affects the frequency of its initiation or termination OR affects the magnitude or rate of output of P2.|process(P1) regulates process(P2) iff: P1 results in the initiation or termination of P2 OR affects the frequency of its initiation or termination OR affects the magnitude or rate of output of P2. tmpxe7fu0cj_hp_relaxed.owl regulates (processual)|regulates (processual) RO:0002211|RO:0002211 Regulation precludes parthood; the regulatory process may not be within the regulated process.|Regulation precludes parthood; the regulatory process may not be within the regulated process. GO|GO We use 'regulates' here to specifically imply control. However, many colloquial usages of the term correctly correspond to the weaker relation of 'causally upstream of or within' (aka influences). Consider relabeling to make things more explicit|We use 'regulates' here to specifically imply control. However, many colloquial usages of the term correctly correspond to the weaker relation of 'causally upstream of or within' (aka influences). Consider relabeling to make things more explicit external|external regulates|regulates David Hill|Chris Mungall|Tanya Berardini|Tanya Berardini|Chris Mungall|David Hill owl:TransitiveProperty OBO:valid_for_go_ontology biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:ro/docs/causal-relations biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl IAO:0000125 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002337 biolink:NamedThing related via localization to A relationship that holds via some process of localization|A relationship that holds via some process of localization tmpxe7fu0cj_hp_relaxed.owl Do not use this relation directly. It is a grouping relation.|Do not use this relation directly. It is a grouping relation. Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002494 biolink:NamedThing transformation of x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships|x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships tmpxe7fu0cj_hp_relaxed.owl transforms from RO:0002494|RO:0002494 uberon|uberon transformation_of|transformation_of Chris Mungall|Chris Mungall owl:ObjectProperty OBO:SIO_000657 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002202 biolink:NamedThing develops_from x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y|x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y tmpxe7fu0cj_hp_relaxed.owl RO:0002202|RO:0002202 This is the transitive form of the develops from relation|This is the transitive form of the develops from relation uberon|uberon develops_from|develops_from Chris Mungall|Chris Mungall|David Osumi-Sutherland|Terry Meehan|David Osumi-Sutherland|Terry Meehan|Melissa Haendel|David Osumi-Sutherland|Chris Mungall|Terry Meehan|Terry Meehan|David Osumi-Sutherland|Melissa Haendel|Chris Mungall owl:ObjectProperty RO:0002586 biolink:NamedThing results in breakdown of p results in breakdown of c if and only if the execution of p leads to c no longer being present at the end of p|p results in breakdown of c if and only if the execution of p leads to c no longer being present at the end of p tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty RO:0002233 biolink:NamedThing has input p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p.|p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. tmpxe7fu0cj_hp_relaxed.owl consumes|consumes RO:0002233|RO:0002233 external|external has_input|has_input Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002588 biolink:NamedThing results_in_assembly_of tmpxe7fu0cj_hp_relaxed.owl RO:0002588|RO:0002588 external|external results_in_assembly_of|results_in_assembly_of owl:ObjectProperty RO:0002297 biolink:NamedThing results in formation of tmpxe7fu0cj_hp_relaxed.owl RO:0002297|RO:0002297 GOC:mtg_berkeley_2013|GOC:mtg_berkeley_2013 every "endocardial cushion formation" (GO:0003272) results_in_formation_of some "endocardial cushion" (UBERON:0002062)|an annotation of gene X to anatomical structure formation with results_in_formation_of UBERON:0000007 (pituitary gland) means that at the beginning of the process a pituitary gland does not exist and at the end of the process a pituitary gland exists.|an annotation of gene X to anatomical structure formation with results_in_formation_of UBERON:0000007 (pituitary gland) means that at the beginning of the process a pituitary gland does not exist and at the end of the process a pituitary gland exists.|every "endocardial cushion formation" (GO:0003272) results_in_formation_of some "endocardial cushion" (UBERON:0002062) external|external results_in_formation_of|results_in_formation_of Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002592 biolink:NamedThing results in organization of p results in organization of c iff p results in the assembly, arrangement of constituent parts, or disassembly of c|p results in organization of c iff p results in the assembly, arrangement of constituent parts, or disassembly of c tmpxe7fu0cj_hp_relaxed.owl RO:0002592|RO:0002592 external|external results_in_organization_of|results_in_organization_of owl:ObjectProperty RO:0000081 biolink:NamedThing role of a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence|a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence tmpxe7fu0cj_hp_relaxed.owl is role of|role_of|is role of|role_of This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. A role inheres in its bearer at all times for which the role exists, however the role need not be realized at all the times that the role exists.|A role inheres in its bearer at all times for which the role exists, however the role need not be realized at all the times that the role exists. this investigator role is a role of this person|this investigator role is a role of this person owl:ObjectProperty RO:0000052 biolink:NamedThing characteristic of a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence.|a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence. tmpxe7fu0cj_hp_relaxed.owl inheres_in|inheres_in RO:0000052|RO:0000052 Note that this relation was previously called "inheres in", but was changed to be called "characteristic of" because BFO2 uses "inheres in" in a more restricted fashion. This relation differs from BFO2:inheres_in in two respects: (1) it does not impose a range constraint, and thus it allows qualities of processes, as well as of information entities, whereas BFO2 restricts inheres_in to only apply to independent continuants (2) it is declared functional, i.e. something can only be a characteristic of one thing.|Note that this relation was previously called "inheres in", but was changed to be called "characteristic of" because BFO2 uses "inheres in" in a more restricted fashion. This relation differs from BFO2:inheres_in in two respects: (1) it does not impose a range constraint, and thus it allows qualities of processes, as well as of information entities, whereas BFO2 restricts inheres_in to only apply to independent continuants (2) it is declared functional, i.e. something can only be a characteristic of one thing. inheres in|inheres in this red color is a characteristic of this apple|this fragility is a characteristic of this vase|this fragility is a characteristic of this vase|this red color is a characteristic of this apple inheres_in|inheres_in owl:FunctionalProperty RO:0000087 biolink:NamedThing has_role a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence tmpxe7fu0cj_hp_relaxed.owl has_role|has_role RO:0000087|RO:0000087 A bearer can have many roles, and its roles can exist for different periods of time, but none of its roles can exist when the bearer does not exist. A role need not be realized at all the times that the role exists.|A bearer can have many roles, and its roles can exist for different periods of time, but none of its roles can exist when the bearer does not exist. A role need not be realized at all the times that the role exists. this person has role this investigator role (more colloquially: this person has this role of investigator)|this person has role this investigator role (more colloquially: this person has this role of investigator) chebi_ontology|protein|chebi_ontology|protein has_role|has_role owl:ObjectProperty RO:0002255 biolink:NamedThing developmentally_contributes_to inverse of has developmental contribution from|inverse of has developmental contribution from tmpxe7fu0cj_hp_relaxed.owl RO:0002255|RO:0002255 uberon|uberon developmentally_contributes_to|developmentally_contributes_to Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002286 biolink:NamedThing developmentally succeeded by Inverse of developmentally preceded by|Inverse of developmentally preceded by tmpxe7fu0cj_hp_relaxed.owl Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002385 biolink:NamedThing has potential to developmentally contribute to x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y.|x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y|x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y|x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y. tmpxe7fu0cj_hp_relaxed.owl RO:0002385|RO:0002385 uberon|uberon has_potential_to_developmentally_contribute_to|has_potential_to_developmentally_contribute_to Chris Mungall|Chris Mungall owl:ObjectProperty RO:0019002 biolink:NamedThing negatively regulates characteristic A relationship that holds between a process and a characteristic in which process (P) negatively regulates characteristic (C) iff: P results in a decrease in the intensity or magnitude of C.|A relationship that holds between a process and a characteristic in which process (P) negatively regulates characteristic (C) iff: P results in a decrease in the intensity or magnitude of C. tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty RO:0019000 biolink:NamedThing regulates characteristic A relationship that holds between a process and a characteristic in which process (P) regulates characteristic (C) iff: P results in the existence of C OR affects the intensity or magnitude of C.|A relationship that holds between a process and a characteristic in which process (P) regulates characteristic (C) iff: P results in the existence of C OR affects the intensity or magnitude of C. tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty ORCID:0000-0002-8688-6599 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002584 biolink:NamedThing has part structure that is capable of s 'has part structure that is capable of' p if and only if there exists some part x such that s 'has part' x and x 'capable of' p|s 'has part structure that is capable of' p if and only if there exists some part x such that s 'has part' x and x 'capable of' p tmpxe7fu0cj_hp_relaxed.owl gland SubClassOf 'has part structure that is capable of' some 'secretion by cell'|gland SubClassOf 'has part structure that is capable of' some 'secretion by cell' Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002595 biolink:NamedThing causal relation between material entity and a process A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity.|A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity. tmpxe7fu0cj_hp_relaxed.owl Do not use this relation directly. It is intended as a grouping for a diverse set of relations, all involving cause and effect.|Do not use this relation directly. It is intended as a grouping for a diverse set of relations, all involving cause and effect. Chris Mungall|Chris Mungall owl:ObjectProperty RO:0000056 biolink:NamedThing participates_in a relation between a continuant and a process, in which the continuant is somehow involved in the process|a relation between a continuant and a process, in which the continuant is somehow involved in the process tmpxe7fu0cj_hp_relaxed.owl participates_in|participates_in RO:0000056|RO:0000056 participates in|participates in this input material (or this output material) participates in this process|this blood clot participates in this blood coagulation|this investigator participates in this investigation|this investigator participates in this investigation|this input material (or this output material) participates in this process|this blood clot participates in this blood coagulation uberon|external|uberon|external participates_in|participates_in owl:ObjectProperty RO:0000057 biolink:NamedThing has participant a relation between a process and a continuant, in which the continuant is somehow involved in the process|a relation between a process and a continuant, in which the continuant is somehow involved in the process tmpxe7fu0cj_hp_relaxed.owl has_participant|has_participant RO:0000057|RO:0000057 Has_participant is a primitive instance-level relation between a process, a continuant, and a time at which the continuant participates in some way in the process. The relation obtains, for example, when this particular process of oxygen exchange across this particular alveolar membrane has_participant this particular sample of hemoglobin at this particular time.|Has_participant is a primitive instance-level relation between a process, a continuant, and a time at which the continuant participates in some way in the process. The relation obtains, for example, when this particular process of oxygen exchange across this particular alveolar membrane has_participant this particular sample of hemoglobin at this particular time. has participant|has participant this blood coagulation has participant this blood clot|this process has participant this input material (or this output material)|this investigation has participant this investigator|this investigation has participant this investigator|this blood coagulation has participant this blood clot|this process has participant this input material (or this output material) external|external has_participant|has_participant http://www.obofoundry.org/ro/#OBO_REL:has_participant|http://www.obofoundry.org/ro/#OBO_REL:has_participant owl:ObjectProperty RO:0002314 biolink:NamedThing characteristic of part of q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w.|q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w. tmpxe7fu0cj_hp_relaxed.owl inheres in part of|inheres in part of RO:0002314|RO:0002314 Because part_of is transitive, inheres in is a sub-relation of characteristic of part of|Because part_of is transitive, inheres in is a sub-relation of characteristic of part of inheres_in_part_of|inheres_in_part_of Chris Mungall|Chris Mungall owl:ObjectProperty OBO:ro/docs/reflexivity/ biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002630 biolink:NamedThing directly negatively regulates Process(P1) directly negatively regulates process(P2) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P1 directly negatively regulates P2.|Process(P1) directly negatively regulates process(P2) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P1 directly negatively regulates P2. tmpxe7fu0cj_hp_relaxed.owl directly negatively regulates (process to process)|directly negatively regulates (process to process) owl:ObjectProperty RO:0002578 biolink:NamedThing directly regulates Process(P1) directly regulates process(P2) iff: P1 regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding regulates the kinase activity (P2) of protein B then P1 directly regulates P2.|Process(P1) directly regulates process(P2) iff: P1 regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding regulates the kinase activity (P2) of protein B then P1 directly regulates P2. tmpxe7fu0cj_hp_relaxed.owl directly regulates (processual)|directly regulates (processual) Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002212 biolink:NamedThing negatively regulates Process(P1) negatively regulates process(P2) iff: P1 terminates P2, or P1 descreases the the frequency of initiation of P2 or the magnitude or rate of output of P2.|Process(P1) negatively regulates process(P2) iff: P1 terminates P2, or P1 descreases the the frequency of initiation of P2 or the magnitude or rate of output of P2. tmpxe7fu0cj_hp_relaxed.owl negatively regulates (process to process)|negatively regulates (process to process) RO:0002212|RO:0002212 external|external negatively_regulates|negatively_regulates Chris Mungall|Chris Mungall owl:ObjectProperty distally_connected_to biolink:NamedThing distally connected to x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y.|x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y. tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:ObjectProperty UBERON_CORE:transitively_distally_connected_to biolink:NamedThing transitively distally connected to .|. tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:TransitiveProperty BSPO:0000100 biolink:NamedThing proximal_to x proximal_to y iff x is closer to the point of attachment with the body than y.|x proximal to y iff x is closer to the point of attachment with the body than y.|x proximal to y iff x is closer to the point of attachment with the body than y.|x proximal_to y iff x is closer to the point of attachment with the body than y. tmpxe7fu0cj_hp_relaxed.owl BSPO:0000100|BSPO:0000100 uberon|uberon proximal_to|proximal_to owl:ObjectProperty UBERON_CORE:proximally_connected_to biolink:NamedThing proximally connected to x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y.|x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y. tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:ObjectProperty UBERON_CORE:channel_for biolink:NamedThing channel for tmpxe7fu0cj_hp_relaxed.owl carries uberon|uberon owl:ObjectProperty RO:0002490 biolink:NamedThing existence overlaps x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y))|x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) tmpxe7fu0cj_hp_relaxed.owl The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription.|The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription. Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002263 biolink:NamedThing acts upstream of c acts upstream of p if and only if c enables some f that is involved in p' and p' occurs chronologically before p, is not part of p, and affects the execution of p. c is a material entity and f, p, p' are processes.|c acts upstream of p if and only if c enables some f that is involved in p' and p' occurs chronologically before p, is not part of p, and affects the execution of p. c is a material entity and f, p, p' are processes. tmpxe7fu0cj_hp_relaxed.owl A faulty traffic light (material entity) whose malfunctioning (a process) is causally upstream of a traffic collision (a process): the traffic light acts upstream of the collision.|A faulty traffic light (material entity) whose malfunctioning (a process) is causally upstream of a traffic collision (a process): the traffic light acts upstream of the collision. owl:ObjectProperty http://wiki.geneontology.org/index.php/Acts_upstream_of biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002264 biolink:NamedThing acts upstream of or within c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process.|c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process. tmpxe7fu0cj_hp_relaxed.owl affects A gene product that has some activity, where that activity may be a part of a pathway or upstream of the pathway.|A gene product that has some activity, where that activity may be a part of a pathway or upstream of the pathway. owl:ObjectProperty RO:0002215 biolink:NamedThing capable of A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. |A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. tmpxe7fu0cj_hp_relaxed.owl has function realized in|has function realized in RO:0002215|RO:0002215 For compatibility with BFO, this relation has a shortcut definition in which the expression "capable of some P" expands to "bearer_of (some realized_by only P)".|For compatibility with BFO, this relation has a shortcut definition in which the expression "capable of some P" expands to "bearer_of (some realized_by only P)". osteoclast SubClassOf 'capable of' some 'bone resorption'|mechanosensory neuron capable of detection of mechanical stimulus involved in sensory perception (GO:0050974)|osteoclast SubClassOf 'capable of' some 'bone resorption'|mechanosensory neuron capable of detection of mechanical stimulus involved in sensory perception (GO:0050974) protein|external|uberon|protein|uberon|external capable_of|capable_of Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002216 biolink:NamedThing capable of part of c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p.|c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p. tmpxe7fu0cj_hp_relaxed.owl has function in|has function in RO:0002216|RO:0002216 uberon|external|uberon|external capable_of_part_of|capable_of_part_of Chris Mungall|Chris Mungall owl:ObjectProperty PMID:21208450 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PMID:20123131 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:cl#ro-eco biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty RO:0004047 biolink:NamedThing causally upstream of or within, positive effect tmpxe7fu0cj_hp_relaxed.owl cjm|cjm 2018-03-13 23:55:19+00:00|2018-03-13 23:55:19+00:00 owl:ObjectProperty BSPO:0000097 biolink:NamedThing distal to x distal to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal).|x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal).|x distal to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal).|x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal). tmpxe7fu0cj_hp_relaxed.owl BSPO:0000097|BSPO:0000097 uberon|uberon distal_to|distal_to owl:TransitiveProperty UBERON_CORE:transitively_proximally_connected_to biolink:NamedThing transitively proximally connected to .|. tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:TransitiveProperty RO:0040036 biolink:NamedThing results in changes to anatomical or cellular structure p has anatomical participant c iff p has participant c, and c is an anatomical entity|p has anatomical participant c iff p has participant c, and c is an anatomical entity tmpxe7fu0cj_hp_relaxed.owl cjm|cjm 2018-09-26 01:08:58+00:00|2018-09-26 01:08:58+00:00 owl:ObjectProperty RO:0002354 biolink:NamedThing formed as result of tmpxe7fu0cj_hp_relaxed.owl Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002353 biolink:NamedThing output of inverse of has output|inverse of has output tmpxe7fu0cj_hp_relaxed.owl RO:0002353|RO:0002353 external|uberon|protein|external|protein|uberon output_of|output_of Chris Mungall|Chris Mungall owl:ObjectProperty composed_primarily_of biolink:NamedThing composed primarily of x composed_primarily_of y iff: more than half of the mass of x is made from parts of y.|x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y.|x composed_primarily_of y iff: more than half of the mass of x is made from parts of y.|x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y. tmpxe7fu0cj_hp_relaxed.owl RO:0002473|RO:0002473 'otolith organ' SubClassOf 'composed primarily of' some 'calcium carbonate'|'otolith organ' SubClassOf 'composed primarily of' some 'calcium carbonate' uberon|uberon composed_primarily_of|composed_primarily_of Chris Mungall|Chris Mungall owl:ObjectProperty PMID:22293552 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002500 biolink:NamedThing causal agent in process A relationship between a material entity and a process where the material entity has some causal role that influences the process|A relationship between a material entity and a process where the material entity has some causal role that influences the process tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty RO:0002608 biolink:NamedThing process has causal agent Inverse of 'causal agent in process'|Inverse of 'causal agent in process' tmpxe7fu0cj_hp_relaxed.owl RO:0002608|RO:0002608 external|external process_has_causal_agent|process_has_causal_agent owl:ObjectProperty RO:0002226 biolink:NamedThing develops_in x develops_in y if x is located in y whilst x is developing|x develops_in y if x is located in y whilst x is developing tmpxe7fu0cj_hp_relaxed.owl RO:0002226|RO:0002226 This relation take from EHDAA2 - precise semantics yet to be defined|This relation take from EHDAA2 - precise semantics yet to be defined EHDAA2|Jonathan Bard, EHDAA2|Jonathan Bard, EHDAA2|EHDAA2 uberon|uberon develops_in|develops_in Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002258 biolink:NamedThing developmentally preceded by Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p|Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p tmpxe7fu0cj_hp_relaxed.owl RO:0002258|RO:0002258 This relation groups together various other developmental relations. It is fairly generic, encompassing induction, developmental contribution and direct and transitive develops from|This relation groups together various other developmental relations. It is fairly generic, encompassing induction, developmental contribution and direct and transitive develops from In general you should not use this relation to make assertions - use one of the more specific relations below this one|In general you should not use this relation to make assertions - use one of the more specific relations below this one uberon|uberon developmentally_preceded_by|developmentally_preceded_by Chris Mungall|Chris Mungall owl:ObjectProperty RO:0000085 biolink:NamedThing has function a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence tmpxe7fu0cj_hp_relaxed.owl has_function|has_function A bearer can have many functions, and its functions can exist for different periods of time, but none of its functions can exist when the bearer does not exist. A function need not be realized at all the times that the function exists.|A bearer can have many functions, and its functions can exist for different periods of time, but none of its functions can exist when the bearer does not exist. A function need not be realized at all the times that the function exists. this enzyme has function this catalysis function (more colloquially: this enzyme has this catalysis function)|this enzyme has function this catalysis function (more colloquially: this enzyme has this catalysis function) owl:ObjectProperty RO:0000053 biolink:NamedThing bearer of Inverse of characteristic_of|Inverse of characteristic_of tmpxe7fu0cj_hp_relaxed.owl bearer_of|is bearer of|bearer_of|is bearer of RO:0000053|RO:0000053 A bearer can have many dependents, and its dependents can exist for different periods of time, but none of its dependents can exist when the bearer does not exist.|A bearer can have many dependents, and its dependents can exist for different periods of time, but none of its dependents can exist when the bearer does not exist. bearer of|bearer of this vase is bearer of this fragility|this apple is bearer of this red color|this apple is bearer of this red color|this vase is bearer of this fragility external|uberon|uberon|external bearer_of|bearer_of owl:InverseFunctionalProperty RO:0002304 biolink:NamedThing causally upstream of, positive effect tmpxe7fu0cj_hp_relaxed.owl cjm|cjm RO:0002304|RO:0002304 holds between x and y if and only if x is causally upstream of y and the progression of x increases the frequency, rate or extent of y|holds between x and y if and only if x is causally upstream of y and the progression of x increases the frequency, rate or extent of y external|external causally_upstream_of,_positive_effect|causally_upstream_of,_positive_effect owl:ObjectProperty RO:0002563 biolink:NamedThing interaction relation helper property tmpxe7fu0cj_hp_relaxed.owl http://purl.obolibrary.org/obo/ro/docs/interaction-relations/|http://purl.obolibrary.org/obo/ro/docs/interaction-relations/ Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002464 biolink:NamedThing helper property (not for use in curation) tmpxe7fu0cj_hp_relaxed.owl This property or its subproperties is not to be used directly. These properties exist as helper properties that are used to support OWL reasoning.|This property or its subproperties is not to be used directly. These properties exist as helper properties that are used to support OWL reasoning. Chris Mungall|Chris Mungall owl:ObjectProperty http://ontologydesignpatterns.org/wiki/Submissions:N-Ary_Relation_Pattern_%28OWL_2%29 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002491 biolink:NamedThing existence starts and ends during x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y)|x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y) tmpxe7fu0cj_hp_relaxed.owl exists during RO:0002491|RO:0002491 The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription.|The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription. uberon|uberon existence_starts_and_ends_during|existence_starts_and_ends_during Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002488 biolink:NamedThing existence starts during x existence starts during y if and only if the time point at which x starts is after or equivalent to the time point at which y starts and before or equivalent to the time point at which y ends. Formally: x existence starts during y iff α(x) >= α(y) & α(x) <= ω(y).|Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s.|x existence starts during y if and only if the time point at which x starts is after or equivalent to the time point at which y starts and before or equivalent to the time point at which y ends. Formally: x existence starts during y iff α(x) >= α(y) & α(x) <= ω(y).|Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s. tmpxe7fu0cj_hp_relaxed.owl begins_to_exist_during RO:0002488|RO:0002488 uberon|uberon existence_starts_during|existence_starts_during Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002492 biolink:NamedThing existence ends during x existence ends during y if and only if the time point at which x ends is before or equivalent to the time point at which y ends and after or equivalent to the point at which y starts. Formally: x existence ends during y iff ω(x) <= ω(y) and ω(x) >= α(y).|Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely.|Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely.|x existence ends during y if and only if the time point at which x ends is before or equivalent to the time point at which y ends and after or equivalent to the point at which y starts. Formally: x existence ends during y iff ω(x) <= ω(y) and ω(x) >= α(y). tmpxe7fu0cj_hp_relaxed.owl ceases_to_exist_during RO:0002492|RO:0002492 The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription.|The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription. uberon|uberon existence_ends_during|existence_ends_during Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002565 biolink:NamedThing results in movement of Holds between p and c when p is locomotion process and the outcome of this process is the change of location of c|Holds between p and c when p is locomotion process and the outcome of this process is the change of location of c tmpxe7fu0cj_hp_relaxed.owl RO:0002565|RO:0002565 external|external results_in_movement_of|results_in_movement_of Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002333 biolink:NamedThing enabled by inverse of enables|inverse of enables tmpxe7fu0cj_hp_relaxed.owl Chris Mungall|Chris Mungall owl:ObjectProperty has_member biolink:NamedThing has member has member is a mereological relation between a collection and an item.|has member is a mereological relation between a collection and an item. tmpxe7fu0cj_hp_relaxed.owl RO:0002351|RO:0002351 SIO|SIO uberon|uberon has_member|has_member owl:IrreflexiveProperty RO:0002230 biolink:NamedThing ends with x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. tmpxe7fu0cj_hp_relaxed.owl finished by|finished by RO:0002230|RO:0002230 external|uberon|external|uberon ends_with|ends_with Chris Mungall|Chris Mungall owl:TransitiveProperty RO:0002222 biolink:NamedThing temporally related to tmpxe7fu0cj_hp_relaxed.owl A relation that holds between two occurrents. This is a grouping relation that collects together all the Allen relations.|A relation that holds between two occurrents. This is a grouping relation that collects together all the Allen relations. Do not use this relation directly. It is ended as a grouping for relations between occurrents involving the relative timing of their starts and ends.|Do not use this relation directly. It is ended as a grouping for relations between occurrents involving the relative timing of their starts and ends. https://docs.google.com/document/d/1kBv1ep_9g3sTR-SD3jqzFqhuwo9TPNF-l-9fUDbO6rM/edit?pli=1|https://docs.google.com/document/d/1kBv1ep_9g3sTR-SD3jqzFqhuwo9TPNF-l-9fUDbO6rM/edit?pli=1 Chris Mungall|Chris Mungall owl:ObjectProperty BSPO:0001101 biolink:NamedThing in_deep_part_of X superficial part of Y <=> if Y is subdivided into two superficial and deep portions, X is part of the deep portion.|X superficial_part_of Y <=> if Y is subdivided into two superficial and deep portions, X is part_of the deep portion.|X superficial part of Y <=> if Y is subdivided into two superficial and deep portions, X is part of the deep portion.|X superficial_part_of Y <=> if Y is subdivided into two superficial and deep portions, X is part_of the deep portion. tmpxe7fu0cj_hp_relaxed.owl BSPO:0001101|BSPO:0001101 uberon|uberon in_deep_part_of|in_deep_part_of owl:ObjectProperty RO:0002434 biolink:NamedThing interacts with A relationship that holds between two entities in which the processes executed by the two entities are causally connected.|A relationship that holds between two entities in which the processes executed by the two entities are causally connected. tmpxe7fu0cj_hp_relaxed.owl in pairwise interaction with http://purl.obolibrary.org/obo/MI_0914|http://purl.obolibrary.org/obo/MI_0914 Note that this relationship type, and sub-relationship types may be redundant with process terms from other ontologies. For example, the symbiotic relationship hierarchy parallels GO. The relations are provided as a convenient shortcut. Consider using the more expressive processual form to capture your data. In the future, these relations will be linked to their cognate processes through rules.|Note that this relationship type, and sub-relationship types may be redundant with process terms from other ontologies. For example, the symbiotic relationship hierarchy parallels GO. The relations are provided as a convenient shortcut. Consider using the more expressive processual form to capture your data. In the future, these relations will be linked to their cognate processes through rules. Considering relabeling as 'pairwise interacts with'|This relation and all sub-relations can be applied to either (1) pairs of entities that are interacting at any moment of time (2) populations or species of entity whose members have the disposition to interact (3) classes whose members have the disposition to interact.|This relation and all sub-relations can be applied to either (1) pairs of entities that are interacting at any moment of time (2) populations or species of entity whose members have the disposition to interact (3) classes whose members have the disposition to interact.|Considering relabeling as 'pairwise interacts with' http://purl.obolibrary.org/obo/ro/docs/interaction-relations/|http://purl.obolibrary.org/obo/ro/docs/interaction-relations/ Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002496 biolink:NamedThing existence starts during or after x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y).|x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). tmpxe7fu0cj_hp_relaxed.owl RO:0002496|RO:0002496 The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription.|The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription. uberon|uberon existence_starts_during_or_after|existence_starts_during_or_after Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002163 biolink:NamedThing spatially disjoint from A is spatially_disjoint_from B if and only if they have no parts in common|A is spatially_disjoint_from B if and only if they have no parts in common tmpxe7fu0cj_hp_relaxed.owl BFO_0000051 exactly 0 (BFO_0000050 some ?Y)|BFO_0000051 exactly 0 (BFO_0000050 some ?Y) Note that it would be possible to use the relation to label the relationship between a near infinite number of structures - between the rings of saturn and my left earlobe. The intent is that this is used for parsiomoniously for disambiguation purposes - for example, between siblings in a jointly exhaustive pairwise disjointness hierarchy|Note that it would be possible to use the relation to label the relationship between a near infinite number of structures - between the rings of saturn and my left earlobe. The intent is that this is used for parsiomoniously for disambiguation purposes - for example, between siblings in a jointly exhaustive pairwise disjointness hierarchy There are two ways to encode this as a shortcut relation. The other possibility to use an annotation assertion between two classes, and expand this to a disjointness axiom. |There are two ways to encode this as a shortcut relation. The other possibility to use an annotation assertion between two classes, and expand this to a disjointness axiom. https://github.com/obophenotype/uberon/wiki/Part-disjointness-Design-Pattern|https://github.com/obophenotype/uberon/wiki/Part-disjointness-Design-Pattern Chris Mungall|Chris Mungall owl:ObjectProperty RO:0004033 biolink:NamedThing acts upstream of or within, negative effect tmpxe7fu0cj_hp_relaxed.owl cjm|cjm 2018-01-26 23:49:51+00:00|2018-01-26 23:49:51+00:00 owl:ObjectProperty RO:0002506 biolink:NamedThing causal relation between entities tmpxe7fu0cj_hp_relaxed.owl Do not use this relation directly. It is intended as a grouping for a diverse set of relations, all involving cause and effect.|Do not use this relation directly. It is intended as a grouping for a diverse set of relations, all involving cause and effect. The intent is that the process branch of the causal property hierarchy is primary (causal relations hold between occurrents/processes), and that the material branch is defined in terms of the process branch|The intent is that the process branch of the causal property hierarchy is primary (causal relations hold between occurrents/processes), and that the material branch is defined in terms of the process branch Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002373 biolink:NamedThing has_muscle_insertion m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone.|m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone.|m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone.|m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone. tmpxe7fu0cj_hp_relaxed.owl RO:0002373|RO:0002373 The insertion is the point of attachment of a muscle that moves the most when the muscle shortens, or the most distal end of limb muscles|The insertion is the point of attachment of a muscle that moves the most when the muscle shortens, or the most distal end of limb muscles Wikipedia:Insertion_(anatomy)|Wikipedia:Insertion_(anatomy) uberon|uberon has_muscle_insertion|has_muscle_insertion Chris Mungall|Chris Mungall owl:ObjectProperty OBO:dbpprop_insertion biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002371 biolink:NamedThing attached to a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a|a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a tmpxe7fu0cj_hp_relaxed.owl attached to (anatomical structure to anatomical structure)|attached to (anatomical structure to anatomical structure) RO:0002371|RO:0002371 uberon|uberon attaches_to|attaches_to Chris Mungall|Chris Mungall owl:SymmetricProperty http://dbpedia.org/property/insertion biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0012008 biolink:NamedThing results in fusion of tmpxe7fu0cj_hp_relaxed.owl RO:0012008|RO:0012008 pg|pg 2021-02-26 07:28:29+00:00|2021-02-26 07:28:29+00:00 external|external results_in_fusion_of|results_in_fusion_of owl:ObjectProperty RO:0002481 biolink:NamedThing is kinase activity tmpxe7fu0cj_hp_relaxed.owl Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002564 biolink:NamedThing molecular interaction relation helper property tmpxe7fu0cj_hp_relaxed.owl Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002158 biolink:NamedThing shares ancestor with two individual entities d1 and d2 stand in a shares_ancestor_with relation if and only if there exists some a such that d1 derived_by_descent_from a and d2 derived_by_descent_from a.|two individual entities d1 and d2 stand in a shares_ancestor_with relation if and only if there exists some a such that d1 derived_by_descent_from a and d2 derived_by_descent_from a. tmpxe7fu0cj_hp_relaxed.owl RO:0002158|RO:0002158 uberon|uberon homologous_to|homologous_to owl:TransitiveProperty RO:0002489 biolink:NamedThing existence starts with Relation between continuant and occurrent, such that c comes into existence at the start of p.|x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y).|Relation between continuant and occurrent, such that c comes into existence at the start of p.|x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y). tmpxe7fu0cj_hp_relaxed.owl RO:0002489|RO:0002489 uberon|uberon existence_starts_with|existence_starts_with Chris Mungall|Chris Mungall owl:ObjectProperty RO:0012003 biolink:NamedThing acts on population of p acts on population of c iff c' is a collection, has members of type c, and p has participant c|p acts on population of c iff c' is a collection, has members of type c, and p has participant c tmpxe7fu0cj_hp_relaxed.owl RO:0012003|RO:0012003 pg|pg 2020-06-08 17:21:33+00:00|2020-06-08 17:21:33+00:00 external|external acts_on_population_of|acts_on_population_of owl:ObjectProperty BSPO:0015102 biolink:NamedThing in_ventral_side_of X ventral side of Y <=> if Y is subdivided into two dorsal and ventral portions, X is part of the ventral portion.|X ventral side of Y <=> if Y is subdivided into two dorsal and ventral portions, X is part of the ventral portion. tmpxe7fu0cj_hp_relaxed.owl BSPO:0015102|BSPO:0015102 uberon|uberon in_ventral_side_of|in_ventral_side_of owl:ObjectProperty RO:0002324 biolink:NamedThing developmentally related to A relationship that holds between entities participating in some developmental process (GO:0032502)|A relationship that holds between entities participating in some developmental process (GO:0032502) tmpxe7fu0cj_hp_relaxed.owl Do not use this relation directly. It is ended as a grouping for a diverse set of relations, all involving organismal development|Do not use this relation directly. It is ended as a grouping for a diverse set of relations, all involving organismal development Chris Mungall|Chris Mungall owl:ObjectProperty RO:0000079 biolink:NamedThing function of a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence|a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence tmpxe7fu0cj_hp_relaxed.owl is function of|function_of|function_of|is function of This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. A function inheres in its bearer at all times for which the function exists, however the function need not be realized at all the times that the function exists.|A function inheres in its bearer at all times for which the function exists, however the function need not be realized at all the times that the function exists. this catalysis function is a function of this enzyme|this catalysis function is a function of this enzyme owl:ObjectProperty RO:0002501 biolink:NamedThing causal relation between processes p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one of direct activation or direct inhibition. p may be upstream, downstream, part of or a container of q.|p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one of direct activation or direct inhibition. p may be upstream, downstream, part of or a container of q. tmpxe7fu0cj_hp_relaxed.owl Do not use this relation directly. It is intended as a grouping for a diverse set of relations, all involving cause and effect.|Do not use this relation directly. It is intended as a grouping for a diverse set of relations, all involving cause and effect. Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002331 biolink:NamedThing involved in c involved_in p if and only if c enables some process p', and p' is part of p|c involved_in p if and only if c enables some process p', and p' is part of p tmpxe7fu0cj_hp_relaxed.owl enables part of|actively involved in|enables part of|actively involved in Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002431 biolink:NamedThing involved in or involved in regulation of c involved in or regulates p if and only if either (i) c is involved in p or (ii) c is involved in regulation of p|c involved in or regulates p if and only if either (i) c is involved in p or (ii) c is involved in regulation of p tmpxe7fu0cj_hp_relaxed.owl involved in or reguates|involved in or reguates OWL does not allow defining object properties via a Union|OWL does not allow defining object properties via a Union Chris Mungall|Chris Mungall owl:ObjectProperty http://wiki.geneontology.org/index.php/Involved_in biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002412 biolink:NamedThing immediately causally upstream of p is immediately causally upstream of q iff both (a) p immediately precedes q and (b) p is causally upstream of q. In addition, the output of p must be an input of q.|p is immediately causally upstream of q iff both (a) p immediately precedes q and (b) p is causally upstream of q. In addition, the output of p must be an input of q. tmpxe7fu0cj_hp_relaxed.owl RO:0002412|RO:0002412 external|external immediately_causally_upstream_of|immediately_causally_upstream_of Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002090 biolink:NamedThing immediately precedes tmpxe7fu0cj_hp_relaxed.owl ends_at_start_of|meets|meets|ends_at_start_of RO:0002090|RO:0002090 X immediately_precedes_Y iff: end(X) simultaneous_with start(Y)|X immediately_precedes_Y iff: end(X) simultaneous_with start(Y) external|external immediately_precedes|immediately_precedes David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002352 biolink:NamedThing input of inverse of has input|inverse of has input tmpxe7fu0cj_hp_relaxed.owl RO:0002352|RO:0002352 uberon|uberon input_of|input_of Chris Mungall|Chris Mungall owl:ObjectProperty http://ontologydesignpatterns.org/wiki/Community:Parts_and_Collections biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl BFO:0000031 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002131 biolink:NamedThing overlaps x overlaps y if and only if there exists some z such that x has part z and z part of y|x overlaps y if and only if there exists some z such that x has part z and z part of y tmpxe7fu0cj_hp_relaxed.owl http://purl.obolibrary.org/obo/BFO_0000051 some (http://purl.obolibrary.org/obo/BFO_0000050 some ?Y)|BFO_0000051 some (BFO_0000050 some ?Y)|http://purl.obolibrary.org/obo/BFO_0000051 some (http://purl.obolibrary.org/obo/BFO_0000050 some ?Y)|BFO_0000051 some (BFO_0000050 some ?Y) RO:0002131|RO:0002131 external|uberon|uberon|external overlaps|overlaps owl:ObjectProperty http://ontologydesignpatterns.org/wiki/Submissions:PartOf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl BSPO:0001106 biolink:NamedThing proximalmost part of X proximalmost part of Y <=> X is in proximal side of Y and X is adjacent to the proximal boundary of Y|X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y.|X proximalmost part of Y <=> X is in proximal side of Y and X is adjacent to the proximal boundary of Y|X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y. tmpxe7fu0cj_hp_relaxed.owl BSPO:0001106|BSPO:0001106 uberon|uberon proximalmost_part_of|proximalmost_part_of owl:ObjectProperty BSPO:0000124 biolink:NamedThing in proximal side of x in proximal side of y <=> if y is subdivided into two proximal and distal portions, y is part of the proximal portion.|X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion.|X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion.|x in proximal side of y <=> if y is subdivided into two proximal and distal portions, y is part of the proximal portion. tmpxe7fu0cj_hp_relaxed.owl BSPO:0000124|BSPO:0000124 uberon|uberon in_proximal_side_of|in_proximal_side_of owl:ObjectProperty UBERON_CORE:anteriorly_connected_to biolink:NamedThing anteriorly connected to x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y.|x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y. tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:ObjectProperty BSPO:0000099 biolink:NamedThing posterior_to x posterior to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that extends through an organism from head end to opposite end of body or tail.|x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail.|x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail.|x posterior to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that extends through an organism from head end to opposite end of body or tail. tmpxe7fu0cj_hp_relaxed.owl caudal_to BSPO:0000099|BSPO:0000099 uberon|uberon posterior_to|posterior_to owl:ObjectProperty UBERON_CORE:transitively_anteriorly_connected_to biolink:NamedThing transitively anteriorly connected to .|. tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:TransitiveProperty RO:0002327 biolink:NamedThing enables tmpxe7fu0cj_hp_relaxed.owl is executing|has|catalyzes|executes|is catalyzing|is executing|has|catalyzes|executes|is catalyzing This relation differs from the parent relation 'capable of' in that the parent is weaker and only expresses a capability that may not be actually realized, whereas this relation is always realized.|This relation differs from the parent relation 'capable of' in that the parent is weaker and only expresses a capability that may not be actually realized, whereas this relation is always realized. a particular instances of akt-2 enables some instance of protein kinase activity|a particular instances of akt-2 enables some instance of protein kinase activity Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002379 biolink:NamedThing spatially coextensive with x spatially_coextensive_with y if and inly if x and y have the same location|x spatially_coextensive_with y if and inly if x and y have the same location tmpxe7fu0cj_hp_relaxed.owl This relation is added for formal completeness. It is unlikely to be used in many practical scenarios|This relation is added for formal completeness. It is unlikely to be used in many practical scenarios A lump of clay and a statue|A lump of clay and a statue Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002447 biolink:NamedThing phosphorylates tmpxe7fu0cj_hp_relaxed.owl An interaction relation between x and y in which x catalyzes a reaction in which a phosphate group is added to y.|An interaction relation between x and y in which x catalyzes a reaction in which a phosphate group is added to y. Axiomatization to GO to be added later|Axiomatization to GO to be added later Chris Mungall|Chris Mungall owl:ObjectProperty RO:0015008 biolink:NamedThing decreased in magnitude relative to q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.|q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. tmpxe7fu0cj_hp_relaxed.owl This relation is used to determine the 'directionality' of relative qualities such as 'decreased strength', relative to the parent type, 'strength'.|This relation is used to determine the 'directionality' of relative qualities such as 'decreased strength', relative to the parent type, 'strength'. owl:ObjectProperty RO:0015006 biolink:NamedThing different in magnitude relative to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.|q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty location_of biolink:NamedThing location of a relation between two independent continuants, the location and the target, in which the target is entirely within the location|a relation between two independent continuants, the location and the target, in which the target is entirely within the location tmpxe7fu0cj_hp_relaxed.owl location_of|location_of RO:0001015|RO:0001015 Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/ is location of|is location of this cage is the location of this rat|my head is the location of my brain|my head is the location of my brain|this cage is the location of this rat uberon|uberon location_of|location_of owl:ObjectProperty ECO:0000353 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002296 biolink:NamedThing results in development of p 'results in development of' c if and only if p is a developmental process and p results in the state of c changing from its initial state as a primordium or anlage through its mature state and to its final state.|p 'results in development of' c if and only if p is a developmental process and p results in the state of c changing from its initial state as a primordium or anlage through its mature state and to its final state. tmpxe7fu0cj_hp_relaxed.owl RO:0002296|RO:0002296 http://www.geneontology.org/GO.doc.development.shtml|http://www.geneontology.org/GO.doc.development.shtml every flower development (GO:0009908) results in development of some flower (PO:0009046)|every flower development (GO:0009908) results in development of some flower (PO:0009046) external|external results_in_development_of|results_in_development_of Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002295 biolink:NamedThing results in developmental progression of p results in the developmental progression of s iff p is a developmental process and s is an anatomical structure and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss).|p results in the developmental progression of s iff p is a developmental process and s is an anatomical structure and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). tmpxe7fu0cj_hp_relaxed.owl RO:0002295|RO:0002295 This property and its subproperties are being used primarily for the definition of GO developmental processes. The property hierarchy mirrors the core GO hierarchy. In future we may be able to make do with a more minimal set of properties, but due to the way GO is currently structured we require highly specific relations to avoid incorrect entailments. To avoid this, the corresponding genus terms in GO should be declared mutually disjoint.|This property and its subproperties are being used primarily for the definition of GO developmental processes. The property hierarchy mirrors the core GO hierarchy. In future we may be able to make do with a more minimal set of properties, but due to the way GO is currently structured we require highly specific relations to avoid incorrect entailments. To avoid this, the corresponding genus terms in GO should be declared mutually disjoint. external|external results_in_developmental_progression_of|results_in_developmental_progression_of Chris Mungall|Chris Mungall owl:ObjectProperty BSPO:0000125 biolink:NamedThing in_distal_side_of x in distal side of y <=> if y is subdivided into two proximal and distal portions, y is part of the distal portion.|X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion.|x in distal side of y <=> if y is subdivided into two proximal and distal portions, y is part of the distal portion.|X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion. tmpxe7fu0cj_hp_relaxed.owl BSPO:0000125|BSPO:0000125 uberon|uberon in_distal_side_of|in_distal_side_of owl:ObjectProperty RO:0002305 biolink:NamedThing causally upstream of, negative effect tmpxe7fu0cj_hp_relaxed.owl cjm|cjm RO:0002305|RO:0002305 holds between x and y if and only if x is causally upstream of y and the progression of x decreases the frequency, rate or extent of y|holds between x and y if and only if x is causally upstream of y and the progression of x decreases the frequency, rate or extent of y external|external causally_upstream_of,_negative_effect|causally_upstream_of,_negative_effect owl:ObjectProperty RO:0002100 biolink:NamedThing has soma location Relation between a neuron and an anatomical structure that its soma is part of.|Relation between a neuron and an anatomical structure that its soma is part of. tmpxe7fu0cj_hp_relaxed.owl some ( and some ?Y)| some ( and some ?Y) David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty BSPO:0000121 biolink:NamedThing in_right_side_of X in right side of Y <=> if Y is subdivided into two left and right portions, X is part of the right portion.|X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion.|X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion.|X in right side of Y <=> if Y is subdivided into two left and right portions, X is part of the right portion. tmpxe7fu0cj_hp_relaxed.owl BSPO:0000121|BSPO:0000121 uberon|uberon https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern|https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern in_right_side_of|in_right_side_of owl:ObjectProperty RO:0002285 biolink:NamedThing developmentally_replaces x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else|x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else tmpxe7fu0cj_hp_relaxed.owl replaces|replaces RO:0002285|RO:0002285 This relation is intended for cases such as when we have a bone element replacing its cartilage element precursor. Currently most AOs represent this using 'develops from'. We need to decide whether 'develops from' will be generic and encompass replacement, or whether we need a new name for a generic relation that encompasses replacement and development-via-cell-lineage|This relation is intended for cases such as when we have a bone element replacing its cartilage element precursor. Currently most AOs represent this using 'develops from'. We need to decide whether 'develops from' will be generic and encompass replacement, or whether we need a new name for a generic relation that encompasses replacement and development-via-cell-lineage uberon|uberon developmentally_replaces|developmentally_replaces Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002022 biolink:NamedThing directly regulated by tmpxe7fu0cj_hp_relaxed.owl Process(P2) is directly regulated by process(P1) iff: P1 regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding regulates the kinase activity (P2) of protein B then P1 directly regulates P2.|Process(P2) is directly regulated by process(P1) iff: P1 regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding regulates the kinase activity (P2) of protein B then P1 directly regulates P2. dos|dos 2017-09-17 13:52:24+00:00|2017-09-17 13:52:24+00:00 owl:ObjectProperty RO:0003001 biolink:NamedThing produced by a produced_by b iff some process that occurs_in b has_output a.|a produced_by b iff some process that occurs_in b has_output a. tmpxe7fu0cj_hp_relaxed.owl RO:0003001|RO:0003001 uberon|external|uberon|external produced_by|produced_by Melissa Haendel|Melissa Haendel owl:ObjectProperty RO:0002179 biolink:NamedThing drains Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure.|Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. tmpxe7fu0cj_hp_relaxed.owl drains blood from|drains from RO:0002179|RO:0002179 source: Wikipedia|source: Wikipedia Individual ontologies should provide their own constraints on this abstract relation. For example, in the realm of anatomy this should hold between a vein and an anatomical structure|Individual ontologies should provide their own constraints on this abstract relation. For example, in the realm of anatomy this should hold between a vein and an anatomical structure uberon|uberon drains|drains owl:ObjectProperty RO:0002559 biolink:NamedThing causally influenced by tmpxe7fu0cj_hp_relaxed.owl causally influenced by (entity-centric)|causally influenced by (entity-centric) Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002566 biolink:NamedThing causally influences The entity or characteristic A is causally upstream of the entity or characteristic B, A having an effect on B. An entity corresponds to any biological type of entity as long as a mass is measurable. A characteristic corresponds to a particular specificity of an entity (e.g., phenotype, shape, size).|The entity or characteristic A is causally upstream of the entity or characteristic B, A having an effect on B. An entity corresponds to any biological type of entity as long as a mass is measurable. A characteristic corresponds to a particular specificity of an entity (e.g., phenotype, shape, size). tmpxe7fu0cj_hp_relaxed.owl causally influences (entity-centric)|causally influences (entity-centric) Vasundra Touré|Chris Mungall|Vasundra Touré|Chris Mungall owl:ObjectProperty RO:0002015 biolink:NamedThing has positive regulatory component activity A relationship that holds between a GO molecular function and a component of that molecular function that positively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is positively regulated by B.|A relationship that holds between a GO molecular function and a component of that molecular function that positively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is positively regulated by B. tmpxe7fu0cj_hp_relaxed.owl By convention GO molecular functions are classified by their effector function and internal regulatory functions are treated as components. So, for example calmodulin has a protein binding activity that has positive regulatory component activity calcium binding activity. Receptor tyrosine kinase activity is a tyrosine kinase activity that has positive regulatory component 'ligand binding'.|By convention GO molecular functions are classified by their effector function and internal regulatory functions are treated as components. So, for example calmodulin has a protein binding activity that has positive regulatory component activity calcium binding activity. Receptor tyrosine kinase activity is a tyrosine kinase activity that has positive regulatory component 'ligand binding'. dos|dos 2017-05-24 09:31:17+00:00|2017-05-24 09:31:17+00:00 owl:ObjectProperty RO:0002013 biolink:NamedThing has regulatory component activity A 'has regulatory component activity' B if A and B are GO molecular functions (GO_0003674), A has_component B and A is regulated by B.|A 'has regulatory component activity' B if A and B are GO molecular functions (GO_0003674), A has_component B and A is regulated by B. tmpxe7fu0cj_hp_relaxed.owl RO:0002013|RO:0002013 dos|dos 2017-05-24 09:30:46+00:00|2017-05-24 09:30:46+00:00 external|external has_regulatory_component_activity|has_regulatory_component_activity owl:ObjectProperty RO:0002336 biolink:NamedThing positively regulated by inverse of positively regulates|inverse of positively regulates tmpxe7fu0cj_hp_relaxed.owl RO:0002336|RO:0002336 external|external positively_regulated_by|positively_regulated_by Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002081 biolink:NamedThing before or simultaneous with tmpxe7fu0cj_hp_relaxed.owl <=|<= Primitive instance level timing relation between events|Primitive instance level timing relation between events David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002203 biolink:NamedThing develops_into inverse of develops from|inverse of develops from tmpxe7fu0cj_hp_relaxed.owl RO:0002203|RO:0002203 uberon|uberon develops_into|develops_into Terry Meehan|Chris Mungall|David Osumi-Sutherland|David Osumi-Sutherland|Terry Meehan|Chris Mungall owl:TransitiveProperty RO:0002387 biolink:NamedThing has potential to develop into x has the potential to develop into y iff x develops into y or if x is capable of developing into y.|x has the potential to develop into y iff x develops into y or if x is capable of developing into y|x has the potential to develop into y iff x develops into y or if x is capable of developing into y|x has the potential to develop into y iff x develops into y or if x is capable of developing into y. tmpxe7fu0cj_hp_relaxed.owl RO:0002387|RO:0002387 uberon|uberon has_potential_to_develop_into|has_potential_to_develop_into Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002388 biolink:NamedThing has potential to directly develop into x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y.|x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y|x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y.|x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y tmpxe7fu0cj_hp_relaxed.owl RO:0002388|RO:0002388 uberon|uberon has_potential_to_directly_develop_into|has_potential_to_directly_develop_into Chris Mungall|Chris Mungall owl:ObjectProperty BSPO:0001107 biolink:NamedThing immediately_deep_to x immediately deep to y iff x deep_to y and x is contiguous with y.|This relation holds when both the deep_to and ajdacent_to relationship similarly hold.|This relation holds when both the deep_to and ajdacent_to relationship similarly hold.|x immediately deep to y iff x deep_to y and x is contiguous with y. tmpxe7fu0cj_hp_relaxed.owl BSPO:0001107|BSPO:0001107 uberon|uberon immediately_deep_to|immediately_deep_to owl:ObjectProperty BSPO:0000107 biolink:NamedThing deep to Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines.|Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines. tmpxe7fu0cj_hp_relaxed.owl BSPO:0000107|BSPO:0000107 uberon|uberon deep_to|deep_to owl:TransitiveProperty RO:0002221 biolink:NamedThing surrounds inverse of surrounded_by.|inverse of surrounded by|inverse of surrounded by|inverse of surrounded_by. tmpxe7fu0cj_hp_relaxed.owl RO:0002221|RO:0002221 uberon|uberon surrounds|surrounds Chris Mungall|Chris Mungall owl:ObjectProperty BSPO:0000122 biolink:NamedThing in posterior side of X posterior side of Y <=> if Y is subdivided into two anterior and posterior portions, X is part of the posterior portion.|X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion.|X posterior side of Y <=> if Y is subdivided into two anterior and posterior portions, X is part of the posterior portion.|X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion. tmpxe7fu0cj_hp_relaxed.owl BSPO:0000122|BSPO:0000122 uberon|uberon in_posterior_side_of|in_posterior_side_of owl:ObjectProperty RO:0002007 biolink:NamedThing bounding layer of X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000|X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000 tmpxe7fu0cj_hp_relaxed.owl RO:0002007|RO:0002007 A relationship that applies between a continuant and its outer, bounding layer. Examples include the relationship between a multicellular organism and its integument, between an animal cell and its plasma membrane, and between a membrane bound organelle and its outer/bounding membrane.|A relationship that applies between a continuant and its outer, bounding layer. Examples include the relationship between a multicellular organism and its integument, between an animal cell and its plasma membrane, and between a membrane bound organelle and its outer/bounding membrane.|A relationship that applies between a continuant and its outer, bounding layer. Examples include the relationship between a multicellular organism and its integument, between an animal cell and its plasma membrane, and between a membrane bound organelle and its outer/bounding membrane.|A relationship that applies between a continuant and its outer, bounding layer. Examples include the relationship between a multicellular organism and its integument, between an animal cell and its plasma membrane, and between a membrane bound organelle and its outer/bounding membrane. external|uberon|uberon|external bounding_layer_of|bounding_layer_of David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002134 biolink:NamedThing innervates Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R.|Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. tmpxe7fu0cj_hp_relaxed.owl some ( that ( some ( that some Y?)))| some ( that ( some ( that some Y?))) RO:0002134|RO:0002134 http://code.google.com/p/obo-relations/issues/detail?id=6|http://code.google.com/p/obo-relations/issues/detail?id=6 uberon|uberon innervates|innervates David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty PMID:22402613 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002384 biolink:NamedThing has developmental potential involving x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction).|x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). tmpxe7fu0cj_hp_relaxed.owl Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002332 biolink:NamedThing regulates levels of p regulates levels of c if p regulates some amount (PATO:0000070) of c|p regulates levels of c if p regulates some amount (PATO:0000070) of c tmpxe7fu0cj_hp_relaxed.owl regulates levels of (process to entity)|regulates levels of (process to entity) RO:0002332|RO:0002332 every cellular sphingolipid homeostasis process regulates_level_of some sphingolipid|every cellular sphingolipid homeostasis process regulates_level_of some sphingolipid external|external regulates_levels_of|regulates_levels_of Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002497 biolink:NamedThing existence ends during or before x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends.|x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. tmpxe7fu0cj_hp_relaxed.owl RO:0002497|RO:0002497 The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription.|The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription. uberon|uberon existence_ends_during_or_before|existence_ends_during_or_before Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002596 biolink:NamedThing capable of regulating Holds between c and p if and only if c is capable of some activity a, and a regulates p.|Holds between c and p if and only if c is capable of some activity a, and a regulates p. tmpxe7fu0cj_hp_relaxed.owl pyrethroid -> growth|pyrethroid -> growth owl:ObjectProperty UBERON_CORE:sexually_homologous_to biolink:NamedThing sexually_homologous_to tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:ObjectProperty RO:0002219 biolink:NamedThing surrounded_by x surrounded_by y if and only if (1) x is adjacent to y and for every region r that is adjacent to x, r overlaps y (2) the shared boundary between x and y occupies the majority of the outermost boundary of x|x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y.|x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y.|x surrounded_by y if and only if (1) x is adjacent to y and for every region r that is adjacent to x, r overlaps y (2) the shared boundary between x and y occupies the majority of the outermost boundary of x tmpxe7fu0cj_hp_relaxed.owl RO:0002219|RO:0002219 uberon|uberon surrounded_by|surrounded_by Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002229 biolink:NamedThing ends Relation between occurrents, shares an end boundary with.|inverse of ends with|inverse of ends with|Relation between occurrents, shares an end boundary with. tmpxe7fu0cj_hp_relaxed.owl finishes RO:0002229|RO:0002229 uberon|uberon ends|ends Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002450 biolink:NamedThing directly positively regulates activity of The entity A, immediately upstream of the entity B, has an activity that positively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A positively regulates the kinase activity of B.|The entity A, immediately upstream of the entity B, has an activity that positively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A positively regulates the kinase activity of B. tmpxe7fu0cj_hp_relaxed.owl molecularly increases activity of directly activates|directly activates Vasundra Touré|Chris Mungall|Chris Mungall|Vasundra Touré owl:ObjectProperty RO:0002014 biolink:NamedThing has negative regulatory component activity A relationship that holds between a GO molecular function and a component of that molecular function that negatively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is negatively regulated by B.|A relationship that holds between a GO molecular function and a component of that molecular function that negatively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is negatively regulated by B. tmpxe7fu0cj_hp_relaxed.owl RO:0002014|RO:0002014 By convention GO molecular functions are classified by their effector function. Internal regulatory functions are treated as components. For example, NMDA glutmate receptor activity is a cation channel activity with positive regulatory component 'glutamate binding' and negative regulatory components including 'zinc binding' and 'magnesium binding'.|By convention GO molecular functions are classified by their effector function. Internal regulatory functions are treated as components. For example, NMDA glutmate receptor activity is a cation channel activity with positive regulatory component 'glutamate binding' and negative regulatory components including 'zinc binding' and 'magnesium binding'. dos|dos 2017-05-24 09:31:01+00:00|2017-05-24 09:31:01+00:00 external|external has_negative_regulatory_component_activity|has_negative_regulatory_component_activity owl:ObjectProperty BSPO:0000123 biolink:NamedThing in anterior side of X anterior side of Y <=> if Y is subdivided into two anterior and posterior portions, X is part of the anterior portion.|X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion.|X anterior side of Y <=> if Y is subdivided into two anterior and posterior portions, X is part of the anterior portion.|X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion. tmpxe7fu0cj_hp_relaxed.owl BSPO:0000123|BSPO:0000123 uberon|uberon in_anterior_side_of|in_anterior_side_of owl:ObjectProperty RO:0002322 biolink:NamedThing confers advantage in tmpxe7fu0cj_hp_relaxed.owl adapted_for RO:0002322|RO:0002322 uberon|uberon confers_advantage_in|confers_advantage_in owl:ObjectProperty RO:0002321 biolink:NamedThing ecologically related to A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297)|A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297) tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty RO:0002338 biolink:NamedThing has target start location This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from some initial location l to some destination.|This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from some initial location l to some destination. tmpxe7fu0cj_hp_relaxed.owl RO:0002338|RO:0002338 external|external has_target_start_location|has_target_start_location Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002344 biolink:NamedThing results in transport to from or in tmpxe7fu0cj_hp_relaxed.owl RO:0002344|RO:0002344 'mitochondrial transport' results_in_transport_to_from_or_in some mitochondrion (GO:0005739)|'mitochondrial transport' results_in_transport_to_from_or_in some mitochondrion (GO:0005739) external|external results_in_transport_to_from_or_in|results_in_transport_to_from_or_in Chris Mungall|Chris Mungall owl:ObjectProperty results_in_growth_of biolink:NamedThing results in growth of tmpxe7fu0cj_hp_relaxed.owl RO:0002343|RO:0002343 'pollen tube growth' results_in growth_of some 'pollen tube'|'pollen tube growth' results_in growth_of some 'pollen tube' external|external results_in_growth_of|results_in_growth_of Chris Mungall|Chris Mungall owl:ObjectProperty RO:0004007 biolink:NamedThing has primary input or output p 'has primary input ot output' c iff either (a) p 'has primary input' c or (b) p 'has primary output' c.|p 'has primary input ot output' c iff either (a) p 'has primary input' c or (b) p 'has primary output' c. tmpxe7fu0cj_hp_relaxed.owl RO:0004007|RO:0004007 cjm|cjm 2018-12-13 11:26:17+00:00|2018-12-13 11:26:17+00:00 external|external has_primary_input_or_output|has_primary_input_or_output owl:ObjectProperty RO:0002329 biolink:NamedThing part of structure that is capable of this relation holds between c and p when c is part of some c', and c' is capable of p.|this relation holds between c and p when c is part of some c', and c' is capable of p. tmpxe7fu0cj_hp_relaxed.owl RO:0002329|RO:0002329 uberon|uberon part_of_structure_that_is_capable_of|part_of_structure_that_is_capable_of Chris Mungall|Chris Mungall owl:ObjectProperty BSPO:0000096 biolink:NamedThing anterior_to x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer.|x anterior to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that extends through an organism from head end to opposite end of body or tail.|x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer.|x anterior to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that extends through an organism from head end to opposite end of body or tail. tmpxe7fu0cj_hp_relaxed.owl BSPO:0000096|BSPO:0000096 cjm|cjm 2009-07-31T02:15:46Z|2009-07-31T02:15:46Z uberon|uberon anterior_to|anterior_to owl:ObjectProperty RO:0002254 biolink:NamedThing has developmental contribution from x has developmental contribution from y iff x has some part z such that z develops from y|x has developmental contribution from y iff x has some part z such that z develops from y tmpxe7fu0cj_hp_relaxed.owl RO:0002254|RO:0002254 Mammalian thymus has developmental contribution from some pharyngeal pouch 3; Mammalian thymus has developmental contribution from some pharyngeal pouch 4 [Kardong]|Mammalian thymus has developmental contribution from some pharyngeal pouch 3; Mammalian thymus has developmental contribution from some pharyngeal pouch 4 [Kardong] uberon|uberon has_developmental_contribution_from|has_developmental_contribution_from Chris Mungall|Chris Mungall owl:TransitiveProperty RO:0002341 biolink:NamedThing results in transport along Holds between p and l when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that is aligned_with l |Holds between p and l when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that is aligned_with l tmpxe7fu0cj_hp_relaxed.owl RO:0002341|RO:0002341 external|external results_in_transport_along|results_in_transport_along Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002598 biolink:NamedThing capable of positively regulating Holds between c and p if and only if c is capable of some activity a, and a positively regulates p.|Holds between c and p if and only if c is capable of some activity a, and a positively regulates p. tmpxe7fu0cj_hp_relaxed.owl renin -> arteriolar smooth muscle contraction|renin -> arteriolar smooth muscle contraction owl:ObjectProperty OBO:ro/docs/branching_part_of.png biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0004032 biolink:NamedThing acts upstream of or within, positive effect tmpxe7fu0cj_hp_relaxed.owl cjm|cjm 2018-01-26 23:49:30+00:00|2018-01-26 23:49:30+00:00 owl:ObjectProperty http://wiki.geneontology.org/index.php/Acts_upstream_of_or_within,_positive_effect biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON_CORE:in_innermost_side_of biolink:NamedThing in_innermost_side_of tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:ObjectProperty UBERON_CORE:transitively_connected_to biolink:NamedThing transitively_connected to tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:ObjectProperty OBO:SIO_000652 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002299 biolink:NamedThing results in maturation of The relationship that links an entity with a process that results in the progression of the entity over time that is independent of changes in it's shape and results in an end point state of that entity.|The relationship that links an entity with a process that results in the progression of the entity over time that is independent of changes in it's shape and results in an end point state of that entity. tmpxe7fu0cj_hp_relaxed.owl RO:0002299|RO:0002299 GOC:mtg_berkeley_2013|GOC:mtg_berkeley_2013 an annotation of gene X to cell maturation with results_in_maturation_of CL:0000057 (fibroblast) means that the fibroblast is mature at the end of the process|bone maturation (GO:0070977) results_in_maturation_of bone (UBERON:0001474)| an annotation of gene X to cell maturation with results_in_maturation_of CL:0000057 (fibroblast) means that the fibroblast is mature at the end of the process|bone maturation (GO:0070977) results_in_maturation_of bone (UBERON:0001474) external|external results_in_maturation_of|results_in_maturation_of Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002590 biolink:NamedThing results_in_disassembly_of tmpxe7fu0cj_hp_relaxed.owl RO:0002590|RO:0002590 external|external results_in_disassembly_of|results_in_disassembly_of owl:ObjectProperty RO:0002386 biolink:NamedThing has potential to developmentally induce x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y|x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y tmpxe7fu0cj_hp_relaxed.owl Chris Mungall|Chris Mungall owl:ObjectProperty http://wiki.geneontology.org/index.php/Acts_upstream_of_or_within biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002287 biolink:NamedThing part of developmental precursor of tmpxe7fu0cj_hp_relaxed.owl 'hypopharyngeal eminence' SubClassOf 'part of precursor of' some tongue|'hypopharyngeal eminence' SubClassOf 'part of precursor of' some tongue Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002493 biolink:NamedThing existence ends with x existence ends with y if and only if the time point at which x ends is equivalent to the time point at which y ends. Formally: x existence ends with y iff ω(x) = ω(y).|Relation between continuant and occurrent, such that c ceases to exist at the end of p.|x existence ends with y if and only if the time point at which x ends is equivalent to the time point at which y ends. Formally: x existence ends with y iff ω(x) = ω(y).|Relation between continuant and occurrent, such that c ceases to exist at the end of p. tmpxe7fu0cj_hp_relaxed.owl RO:0002493|RO:0002493 The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription.|The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription. uberon|uberon existence_ends_with|existence_ends_with Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002572 biolink:NamedThing luminal space of s is luminal space of x iff s is lumen_of x and s is an immaterial entity|s is luminal space of x iff s is lumen_of x and s is an immaterial entity tmpxe7fu0cj_hp_relaxed.owl RO:0002572|RO:0002572 uberon|uberon luminal_space_of|luminal_space_of Chris Mungall|Chris Mungall owl:ObjectProperty RO:0004046 biolink:NamedThing causally upstream of or within, negative effect tmpxe7fu0cj_hp_relaxed.owl cjm|cjm 2018-03-13 23:55:05+00:00|2018-03-13 23:55:05+00:00 owl:ObjectProperty RO:0001019 biolink:NamedThing contains tmpxe7fu0cj_hp_relaxed.owl RO:0001019|RO:0001019 contains|contains uberon|uberon contains|contains owl:ObjectProperty RO:0002256 biolink:NamedThing developmentally_induced_by t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor anatomical structure type T to T', where T' develops_from T|t1 developmentally_induced_by t2 if there is a process of organ induction (GO:0001759) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor tissue type T to T', where T' develops_from T.|t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor anatomical structure type T to T', where T' develops_from T|t1 developmentally_induced_by t2 if there is a process of organ induction (GO:0001759) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor tissue type T to T', where T' develops_from T. tmpxe7fu0cj_hp_relaxed.owl induced by|induced by RO:0002256|RO:0002256 sources for developmentally_induced_by relationships in Uberon: Developmental Biology, Gilbert, 8th edition, figure 6.5(F)|sources for developmentally_induced_by relationships in Uberon: Developmental Biology, Gilbert, 8th edition, figure 6.5(F) We place this under 'developmentally preceded by'. This placement should be examined in the context of reciprocal inductions[cjm]|We place this under 'developmentally preceded by'. This placement should be examined in the context of reciprocal inductions[cjm] GO:0001759| Developmental Biology, Gilbert, 8th edition, figure 6.5(F)| Developmental Biology, Gilbert, 8th edition, figure 6.5(F)|GO:0001759 uberon|uberon developmentally_induced_by|developmentally_induced_by Melissa Haendel|Chris Mungall|David Osumi-Sutherland|David Osumi-Sutherland|Melissa Haendel|Chris Mungall owl:ObjectProperty RO:0002257 biolink:NamedThing developmentally induces Inverse of developmentally induced by|Inverse of developmentally induced by tmpxe7fu0cj_hp_relaxed.owl Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002234 biolink:NamedThing has output p has output c iff c is a participant in p, c is present at the end of p, and c is not present in the same state at the beginning of p.|p has output c iff c is a participant in p, c is present at the end of p, and c is not present at the beginning of p.|p has output c iff c is a participant in p, c is present at the end of p, and c is not present in the same state at the beginning of p.|p has output c iff c is a participant in p, c is present at the end of p, and c is not present at the beginning of p. tmpxe7fu0cj_hp_relaxed.owl produces|produces RO:0002234|RO:0002234 external|external has_output|has_output Chris Mungall|Chris Mungall owl:ObjectProperty UBERON_CORE:trunk_part_of biolink:NamedThing trunk_part_of tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:ObjectProperty http://wiki.geneontology.org/index.php/Ontology_extensions biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002002 biolink:NamedThing has 2D boundary a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity|a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity tmpxe7fu0cj_hp_relaxed.owl has_2D_boundary|has boundary|has boundary|has_2D_boundary RO:0002002|RO:0002002 A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts.|Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape.|Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape.|A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts. my body has 2D boundary the surface of my skin|my body has 2D boundary the surface of my skin uberon|uberon has_boundary|has_boundary David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002005 biolink:NamedThing innervated_by tmpxe7fu0cj_hp_relaxed.owl nerve supply http://www.ncbi.nlm.nih.gov/pubmed/22402613|http://www.ncbi.nlm.nih.gov/pubmed/22402613 RO:0002005|RO:0002005 http://code.google.com/p/obo-relations/issues/detail?id=6|http://code.google.com/p/obo-relations/issues/detail?id=6 uberon|uberon innervated_by|innervated_by David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty FMA:85999 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:dbprop_nerve biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002024 biolink:NamedThing directly positively regulated by Process(P2) is directly postively regulated by process(P1) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P2 is directly postively regulated by P1.|Process(P2) is directly postively regulated by process(P1) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P2 is directly postively regulated by P1. tmpxe7fu0cj_hp_relaxed.owl dos|dos 2017-09-17 13:52:47+00:00|2017-09-17 13:52:47+00:00 owl:ObjectProperty RO:0002629 biolink:NamedThing directly positively regulates Process(P1) directly postively regulates process(P2) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P1 directly positively regulates P2.|Process(P1) directly postively regulates process(P2) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P1 directly positively regulates P2. tmpxe7fu0cj_hp_relaxed.owl directly positively regulates (process to process)|directly positively regulates (process to process) owl:ObjectProperty RO:0002298 biolink:NamedThing results in morphogenesis of The relationship that links an entity with the process that results in the formation and shaping of that entity over time from an immature to a mature state.|The relationship that links an entity with the process that results in the formation and shaping of that entity over time from an immature to a mature state. tmpxe7fu0cj_hp_relaxed.owl RO:0002298|RO:0002298 GOC:mtg_berkeley_2013|GOC:mtg_berkeley_2013 tongue morphogenesis (GO:0043587) results in morphogenesis of tongue (UBERON:0001723)|an annotation of gene X to cell morphogenesis with results_in_morphogenesis_of CL:0000540 (neuron) means that at the end of the process an input neuron has attained its shape.|an annotation of gene X to cell morphogenesis with results_in_morphogenesis_of CL:0000540 (neuron) means that at the end of the process an input neuron has attained its shape.|tongue morphogenesis (GO:0043587) results in morphogenesis of tongue (UBERON:0001723) external|external results_in_morphogenesis_of|results_in_morphogenesis_of Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002449 biolink:NamedThing directly negatively regulates activity of The entity A, immediately upstream of the entity B, has an activity that negatively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A negatively regulates the kinase activity of B.|The entity A, immediately upstream of the entity B, has an activity that negatively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A negatively regulates the kinase activity of B. tmpxe7fu0cj_hp_relaxed.owl molecularly decreases activity of directly inhibits|directly inhibits Chris Mungall|Vasundra Touré|Chris Mungall|Vasundra Touré owl:ObjectProperty RO:0002086 biolink:NamedThing ends after tmpxe7fu0cj_hp_relaxed.owl X ends_after Y iff: end(Y) before_or_simultaneous_with end(X)|X ends_after Y iff: end(Y) before_or_simultaneous_with end(X) David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0004035 biolink:NamedThing acts upstream of, negative effect c 'acts upstream of, negative effect' p if c is enables f, and f is causally upstream of p, and the direction of f is negative|c 'acts upstream of, negative effect' p if c is enables f, and f is causally upstream of p, and the direction of f is negative tmpxe7fu0cj_hp_relaxed.owl cjm|cjm 2018-01-26 23:53:22+00:00|2018-01-26 23:53:22+00:00 owl:ObjectProperty http://wiki.geneontology.org/index.php/Acts_upstream_of,_negative_effect biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002023 biolink:NamedThing directly negatively regulated by Process(P2) is directly negatively regulated by process(P1) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P2 directly negatively regulated by P1.|Process(P2) is directly negatively regulated by process(P1) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P2 directly negatively regulated by P1. tmpxe7fu0cj_hp_relaxed.owl dos|dos 2017-09-17 13:52:38+00:00|2017-09-17 13:52:38+00:00 owl:ObjectProperty RO:0002160 biolink:NamedThing only in taxon x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z.|U only_in_taxon T: U is a feature found in only in organisms of species of taxon T. The feature cannot be found in an organism of any species outside of (not subsumed by) that taxon. Down-propagates in U hierarchy, up-propagates in T hierarchy (species taxonomy). Implies applicable_to_taxon.|S only_in_taxon T iff: S SubClassOf in_taxon only T.|S only_in_taxon T iff: S SubClassOf in_taxon only T.|U only_in_taxon T: U is a feature found in only in organisms of species of taxon T. The feature cannot be found in an organism of any species outside of (not subsumed by) that taxon. Down-propagates in U hierarchy, up-propagates in T hierarchy (species taxonomy). Implies applicable_to_taxon.|x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z. tmpxe7fu0cj_hp_relaxed.owl never_outside_taxon|specific_to_taxon|specific_to RO:0002160|RO:0002160 Down-propagates. The original name for this in the paper is 'specific_to'. Applicable to genes because some genes are lost in sub-species (strains) of a species.|Down-propagates. The original name for this in the paper is 'specific_to'. Applicable to genes because some genes are lost in sub-species (strains) of a species. The original intent was to treat this as a macro that expands to 'in taxon' only ?Y - however, this is not necessary if we instead have supplemental axioms that state that each pair of sibling tax have a disjointness axiom using the 'in taxon' property - e.g. 'in taxon' some Eukaryota DisjointWith 'in taxon' some Eubacteria|The original intent was to treat this as a macro that expands to 'in taxon' only ?Y - however, this is not necessary if we instead have supplemental axioms that state that each pair of sibling tax have a disjointness axiom using the 'in taxon' property - e.g. 'in taxon' some Eukaryota DisjointWith 'in taxon' some Eubacteria lactation SubClassOf 'only in taxon' some 'Mammalia'|lactation SubClassOf 'only in taxon' some 'Mammalia' uberon|protein|uberon|protein only_in_taxon|only_in_taxon Chris Mungall|Chris Mungall owl:ObjectProperty PMID:20973947 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PMID:17921072 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl https://github.com/obophenotype/uberon/wiki/Taxon-constraints biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002162 biolink:NamedThing in taxon x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed.|x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. tmpxe7fu0cj_hp_relaxed.owl RO:0002162|RO:0002162 Connects a biological entity to its taxon of origin.|Connects a biological entity to its taxon of origin. uberon|uberon in_taxon|in_taxon Chris Mungall|Jennifer Deegan|Chris Mungall|Jennifer Deegan owl:ObjectProperty RO:0002213 biolink:NamedThing positively regulates Process(P1) postively regulates process(P2) iff: P1 initiates P2, or P1 increases the the frequency of initiation of P2 or the magnitude or rate of output of P2.|Process(P1) postively regulates process(P2) iff: P1 initiates P2, or P1 increases the the frequency of initiation of P2 or the magnitude or rate of output of P2. tmpxe7fu0cj_hp_relaxed.owl positively regulates (process to process)|positively regulates (process to process) RO:0002213|RO:0002213 external|external positively_regulates|positively_regulates Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002433 biolink:NamedThing contributes to morphology of p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm.|p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. tmpxe7fu0cj_hp_relaxed.owl RO:0002433|RO:0002433 uberon|uberon contributes_to_morphology_of|contributes_to_morphology_of Chris Mungall|Chris Mungall owl:ObjectProperty BSPO:0001108 biolink:NamedThing distalmost part of X distalmost part of Y <=> X is in distal side of Y and X is adjacent to the distal boundary of Y|X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y.|X distalmost part of Y <=> X is in distal side of Y and X is adjacent to the distal boundary of Y|X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y. tmpxe7fu0cj_hp_relaxed.owl BSPO:0001108|BSPO:0001108 uberon|uberon distalmost_part_of|distalmost_part_of owl:ObjectProperty RO:0002224 biolink:NamedThing starts with x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. tmpxe7fu0cj_hp_relaxed.owl started by|started by RO:0002224|RO:0002224 Every insulin receptor signaling pathway starts with the binding of a ligand to the insulin receptor|Every insulin receptor signaling pathway starts with the binding of a ligand to the insulin receptor external|uberon|uberon|external starts_with|starts_with Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002180 biolink:NamedThing has component w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type.|w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. tmpxe7fu0cj_hp_relaxed.owl RO:0002180|RO:0002180 For use in recording has_part with a cardinality constraint, because OWL does not permit cardinality constraints to be used in combination with transitive object properties. In situations where you would want to say something like 'has part exactly 5 digit, you would instead use has_component exactly 5 digit.|For use in recording has_part with a cardinality constraint, because OWL does not permit cardinality constraints to be used in combination with transitive object properties. In situations where you would want to say something like 'has part exactly 5 digit, you would instead use has_component exactly 5 digit. The definition of 'has component' is still under discussion. The challenge is in providing a definition that does not imply transitivity.|The definition of 'has component' is still under discussion. The challenge is in providing a definition that does not imply transitivity. uberon|protein|external|external|protein|uberon has_component|has_component owl:ObjectProperty http://ontologydesignpatterns.org/wiki/Submissions:Componency biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl BFO:0000066 biolink:NamedThing occurs in b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t|b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t tmpxe7fu0cj_hp_relaxed.owl unfolds in|unfolds_in|occurs_in|occurs_in|unfolds_in|unfolds in BFO:0000066|BFO:0000066 Paraphrase of definition: a relation between a process and an independent continuant, in which the process takes place entirely within the independent continuant|Paraphrase of definition: a relation between a process and an independent continuant, in which the process takes place entirely within the independent continuant occurs in|occurs in external|external occurs_in|occurs_in owl:ObjectProperty BFO:0000067 biolink:NamedThing contains process [copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t|[copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t tmpxe7fu0cj_hp_relaxed.owl BFO:0000067|BFO:0000067 Paraphrase of definition: a relation between an independent continuant and a process, in which the process takes place entirely within the independent continuant|Paraphrase of definition: a relation between an independent continuant and a process, in which the process takes place entirely within the independent continuant site of|site of uberon|uberon contains_process|contains_process owl:ObjectProperty OBO:bfo.owl biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002568 biolink:NamedThing has muscle antagonist m1 has_muscle_antagonist m2 iff m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position.|m1 has_muscle_antagonist m2 iff m1 has_muscle_insertion s, m2 has_muscle_insection s, m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position.|m1 has_muscle_antagonist m2 iff m1 has_muscle_insertion s, m2 has_muscle_insection s, m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position.|m1 has_muscle_antagonist m2 iff m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position. tmpxe7fu0cj_hp_relaxed.owl RO:0002568|RO:0002568 uberon|uberon has_muscle_antagonist|has_muscle_antagonist owl:ObjectProperty OBO:dbpprop_antagonist biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:cl#has_high_plasma_membrane_amount biolink:NamedThing has_high_plasma_membrane_amount A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617).|A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty RO:0002104 biolink:NamedThing has plasma membrane part Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part.|Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. tmpxe7fu0cj_hp_relaxed.owl some ( and some ?Y)| some ( and some ?Y) Every B cell[CL_0000236] has plasma membrane part some immunoglobulin complex[GO_0019814]|Every B cell[CL_0000236] has plasma membrane part some immunoglobulin complex[GO_0019814] Chris Mungall|Lindsay Cowell|Alexander Diehl|Alexander Diehl|Chris Mungall|Lindsay Cowell owl:ObjectProperty RO:0002000 biolink:NamedThing 2D boundary of a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity|a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity tmpxe7fu0cj_hp_relaxed.owl is 2D boundary of|is boundary of|boundary of|2D_boundary_of|2D_boundary_of|is 2D boundary of|boundary of|is boundary of RO:0002000|RO:0002000 A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts.|Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape.|Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape.|A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts. the surface of my skin is a 2D boundary of my body|the surface of my skin is a 2D boundary of my body uberon|uberon boundary_of|boundary_of owl:ObjectProperty UBERON_CORE:in_outermost_side_of biolink:NamedThing in_outermost_side_of tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:ObjectProperty RO:0000092 biolink:NamedThing disposition of inverse of has disposition|inverse of has disposition tmpxe7fu0cj_hp_relaxed.owl This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. owl:ObjectProperty RO:0002350 biolink:NamedThing member of is member of is a mereological relation between a item and a collection.|is member of is a mereological relation between a item and a collection. tmpxe7fu0cj_hp_relaxed.owl member part of|is member of|member part of|is member of RO:0002350|RO:0002350 SIO|SIO An organism that is a member of a population of organisms|An organism that is a member of a population of organisms uberon|uberon member_of|member_of owl:ObjectProperty RO:0002150 biolink:NamedThing continuous with X continuous_with Y if and only if X and Y share a fiat boundary.|X continuous_with Y if and only if X and Y share a fiat boundary. tmpxe7fu0cj_hp_relaxed.owl connected to|connected to RO:0002150|RO:0002150 The label for this relation was previously connected to. I relabeled this to "continuous with". The standard notion of connectedness does not imply shared boundaries - e.g. Glasgow connected_to Edinburgh via M8; my patella connected_to my femur (via patellar-femoral joint)|The label for this relation was previously connected to. I relabeled this to "continuous with". The standard notion of connectedness does not imply shared boundaries - e.g. Glasgow connected_to Edinburgh via M8; my patella connected_to my femur (via patellar-femoral joint) uberon|uberon FMA:85972|FMA:85972 continuous_with|continuous_with David Osumi-Sutherland|David Osumi-Sutherland owl:SymmetricProperty RO:0002430 biolink:NamedThing involved in negative regulation of c involved in regulation of p if c is involved in some p' and p' negatively regulates some p|c involved in regulation of p if c is involved in some p' and p' negatively regulates some p tmpxe7fu0cj_hp_relaxed.owl Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002428 biolink:NamedThing involved in regulation of c involved in regulation of p if c is involved in some p' and p' regulates some p|c involved in regulation of p if c is involved in some p' and p' regulates some p tmpxe7fu0cj_hp_relaxed.owl Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002156 biolink:NamedThing derived by descent from d derived_by_descent_from a if d is specified by some genetic program that is sequence-inherited-from a genetic program that specifies a.|d derived_by_descent_from a if d is specified by some genetic program that is sequence-inherited-from a genetic program that specifies a. tmpxe7fu0cj_hp_relaxed.owl owl:TransitiveProperty RO:0002011 biolink:NamedThing regulates transport of A relationship that holds between a process that regulates a transport process and the entity transported by that process.|A relationship that holds between a process that regulates a transport process and the entity transported by that process. tmpxe7fu0cj_hp_relaxed.owl David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002315 biolink:NamedThing results in acquisition of features of The relationship that links a specified entity with the process that results in an unspecified entity acquiring the features and characteristics of the specified entity|The relationship that links a specified entity with the process that results in an unspecified entity acquiring the features and characteristics of the specified entity tmpxe7fu0cj_hp_relaxed.owl RO:0002315|RO:0002315 GOC:mtg_berkeley_2013|GOC:mtg_berkeley_2013 an annotation of gene X to cell differentiation with results_in_maturation_of CL:0000057 (fibroblast) means that at the end of the process the input cell that did not have features of a fibroblast, now has the features of a fibroblast.|an annotation of gene X to cell differentiation with results_in_maturation_of CL:0000057 (fibroblast) means that at the end of the process the input cell that did not have features of a fibroblast, now has the features of a fibroblast. external|external results_in_acquisition_of_features_of|results_in_acquisition_of_features_of Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002231 biolink:NamedThing has start location x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y|x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y tmpxe7fu0cj_hp_relaxed.owl starts with process that occurs in|starts with process that occurs in RO:0002231|RO:0002231 external|external has_start_location|has_start_location Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002479 biolink:NamedThing has part that occurs in p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c.|p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. tmpxe7fu0cj_hp_relaxed.owl Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002232 biolink:NamedThing has end location x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y|x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y tmpxe7fu0cj_hp_relaxed.owl ends with process that occurs in|ends with process that occurs in RO:0002232|RO:0002232 external|external has_end_location|has_end_location Chris Mungall|Chris Mungall owl:ObjectProperty UBERON_CORE:layer_part_of biolink:NamedThing layer part of tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:ObjectProperty RO:0002210 biolink:NamedThing directly develops into inverse of directly develops from|inverse of directly develops from tmpxe7fu0cj_hp_relaxed.owl developmental precursor of|developmental precursor of owl:ObjectProperty RO:0001018 biolink:NamedThing contained in tmpxe7fu0cj_hp_relaxed.owl contained_in|contained_in Containment obtains in each case between material and immaterial continuants, for instance: lung contained_in thoracic cavity; bladder contained_in pelvic cavity. Hence containment is not a transitive relation. If c part_of c1 at t then we have also, by our definition and by the axioms of mereology applied to spatial regions, c located_in c1 at t. Thus, many examples of instance-level location relations for continuants are in fact cases of instance-level parthood. For material continuants location and parthood coincide. Containment is location not involving parthood, and arises only where some immaterial continuant is involved. To understand this relation, we first define overlap for continuants as follows: c1 overlap c2 at t =def for some c, c part_of c1 at t and c part_of c2 at t. The containment relation on the instance level can then be defined (see definition):|Intended meaning: domain: material entity range: spatial region or site (immaterial continuant) |Containment is location not involving parthood, and arises only where some immaterial continuant is involved.|Intended meaning: domain: material entity range: spatial region or site (immaterial continuant) |Containment obtains in each case between material and immaterial continuants, for instance: lung contained_in thoracic cavity; bladder contained_in pelvic cavity. Hence containment is not a transitive relation. If c part_of c1 at t then we have also, by our definition and by the axioms of mereology applied to spatial regions, c located_in c1 at t. Thus, many examples of instance-level location relations for continuants are in fact cases of instance-level parthood. For material continuants location and parthood coincide. Containment is location not involving parthood, and arises only where some immaterial continuant is involved. To understand this relation, we first define overlap for continuants as follows: c1 overlap c2 at t =def for some c, c part_of c1 at t and c part_of c2 at t. The containment relation on the instance level can then be defined (see definition):|Containment is location not involving parthood, and arises only where some immaterial continuant is involved. contained in|contained in owl:ObjectProperty RO:0002176 biolink:NamedThing connects c connects a if and only if there exist some b such that a and b are similar parts of the same system, and c connects b, specifically, c connects a with b. When one structure connects two others it unites some aspect of the function or role they play within the system.|Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship.|Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship.|c connects a if and only if there exist some b such that a and b are similar parts of the same system, and c connects b, specifically, c connects a with b. When one structure connects two others it unites some aspect of the function or role they play within the system. tmpxe7fu0cj_hp_relaxed.owl RO:0002176|RO:0002176 this is currently used for both structural relationships (such as between a valve and the chamber it connects) and abstract relationships (anatomical lines and the entities they connect)|this is currently used for both structural relationships (such as between a valve and the chamber it connects) and abstract relationships (anatomical lines and the entities they connect) a 'toe distal phalanx bone' that is connected to a 'toe medial phalanx bone' (an interphalangeal joint *connects* these two bones).|The M8 connects Glasgow and Edinburgh|The M8 connects Glasgow and Edinburgh|a 'toe distal phalanx bone' that is connected to a 'toe medial phalanx bone' (an interphalangeal joint *connects* these two bones). uberon|uberon https://github.com/obophenotype/uberon/wiki/Connectivity-Design-Pattern|https://github.com/obophenotype/uberon/wiki/Modeling-articulations-Design-Pattern|https://github.com/obophenotype/uberon/wiki/Modeling-articulations-Design-Pattern|https://github.com/obophenotype/uberon/wiki/Connectivity-Design-Pattern connects|connects owl:ObjectProperty RO:0002405 biolink:NamedThing immediately causally downstream of tmpxe7fu0cj_hp_relaxed.owl RO:0002405|RO:0002405 external|external immediately_causally_downstream_of|immediately_causally_downstream_of Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002087 biolink:NamedThing immediately_preceded_by X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y).|X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y)|X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y)|X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y). tmpxe7fu0cj_hp_relaxed.owl directly preceded by|is immediately preceded by|is directly preceded by|starts_at_end_of starts_at_end_of|starts_at_end_of RO:0002087|RO:0002087 X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y)|X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) external|human_stages_ontology|uberon|uberon|external|human_stages_ontology immediately_preceded_by|immediately_preceded_by David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty A non-transitive temporal relation in which one process immediately precedes another process, such that there is no interval of time between the two processes[SIO:000251].|A non-transitive temporal relation in which one process immediately precedes another process, such that there is no interval of time between the two processes[SIO:000251]. RO:0000080 biolink:NamedThing quality of a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence|a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence tmpxe7fu0cj_hp_relaxed.owl is quality of|quality_of|quality_of|is quality of This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. A quality inheres in its bearer at all times for which the quality exists.|A quality inheres in its bearer at all times for which the quality exists. this red color is a quality of this apple|this red color is a quality of this apple owl:ObjectProperty RO:0000086 biolink:NamedThing has quality a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence tmpxe7fu0cj_hp_relaxed.owl has_quality|has_quality RO:0000086|RO:0000086 A bearer can have many qualities, and its qualities can exist for different periods of time, but none of its qualities can exist when the bearer does not exist.|A bearer can have many qualities, and its qualities can exist for different periods of time, but none of its qualities can exist when the bearer does not exist. this apple has quality this red color|this apple has quality this red color uberon|protein|protein|uberon has_quality|has_quality owl:ObjectProperty RO:0002569 biolink:NamedThing has branching part inverse of branching part of|inverse of branching part of tmpxe7fu0cj_hp_relaxed.owl RO:0002569|RO:0002569 uberon|uberon has_branching_part|has_branching_part Chris Mungall|Chris Mungall owl:TransitiveProperty OBO:chebi#is_conjugate_acid_of biolink:NamedThing is conjugate acid of tmpxe7fu0cj_hp_relaxed.owl chebi_ontology|chebi_ontology True|True owl:ObjectProperty OBO:chebi#is_conjugate_base_of biolink:NamedThing is conjugate base of tmpxe7fu0cj_hp_relaxed.owl chebi_ontology|chebi_ontology True|True owl:ObjectProperty preaxialmost_part_of biolink:NamedThing preaxialmost_part_of tmpxe7fu0cj_hp_relaxed.owl BSPO:0001113|BSPO:0001113 uberon|uberon preaxialmost_part_of|preaxialmost_part_of owl:ObjectProperty BSPO:0015101 biolink:NamedThing in_dorsal_side_of X dorsal side of Y <=> if Y is subdivided into two dorsal and ventral portions, X is part of the dorsal portion.|X dorsal side of Y <=> if Y is subdivided into two dorsal and ventral portions, X is part of the dorsal portion. tmpxe7fu0cj_hp_relaxed.owl BSPO:0015101|BSPO:0015101 uberon|uberon in_dorsal_side_of|in_dorsal_side_of owl:ObjectProperty OBO:SIO_000251 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:CARO_0001010 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:Class BFO:0000169 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002380 biolink:NamedThing branching_part_of x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y|x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y tmpxe7fu0cj_hp_relaxed.owl RO:0002380|RO:0002380 we need to check if FMA branch_of implies part_of. the relation we intend to use here should - for example, see vestibulocochlear nerve|we need to check if FMA branch_of implies part_of. the relation we intend to use here should - for example, see vestibulocochlear nerve In the tree T depicted in https://oborel.github.io/obo-relations/branching_part_of.png, B1 is a (direct) branching part of T. B1-1, B1-2, and B1-3 are also branching parts of T, but these are considered indirect branching parts as they do not directly connect to the main stem S|In the tree T depicted in https://oborel.github.io/obo-relations/branching_part_of.png, B1 is a (direct) branching part of T. B1-1, B1-2, and B1-3 are also branching parts of T, but these are considered indirect branching parts as they do not directly connect to the main stem S uberon|uberon FMA:85994|FMA:85994 branching_part_of|branching_part_of Chris Mungall|Chris Mungall owl:ObjectProperty https://github.com/obophenotype/uberon/issues/2212 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl FMA:85994 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002432 biolink:NamedThing is active in c executes activity in d if and only if c enables p and p occurs_in d. Assuming no action at a distance by gene products, if a gene product enables (is capable of) a process that occurs in some structure, it must have at least some part in that structure.|c executes activity in d if and only if c enables p and p occurs_in d. Assuming no action at a distance by gene products, if a gene product enables (is capable of) a process that occurs in some structure, it must have at least some part in that structure. tmpxe7fu0cj_hp_relaxed.owl enables activity in executes activity in|executes activity in A protein that enables activity in a cytosol.|A protein that enables activity in a cytosol. Chris Mungall|Chris Mungall owl:ObjectProperty BSPO:0000098 biolink:NamedThing dorsal to x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly).|x dorsal to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that extends through an organism from back (e.g. spinal column) to front (e.g. belly).|x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly).|x dorsal to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that extends through an organism from back (e.g. spinal column) to front (e.g. belly). tmpxe7fu0cj_hp_relaxed.owl BSPO:0000098|BSPO:0000098 uberon|uberon dorsal_to|dorsal_to owl:ObjectProperty BSPO:0000102 biolink:NamedThing ventral_to x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly).|x ventral to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that extends through an organism from back (e.g. spinal column) to front (e.g. belly).|x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly).|x ventral to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that extends through an organism from back (e.g. spinal column) to front (e.g. belly). tmpxe7fu0cj_hp_relaxed.owl BSPO:0000102|BSPO:0000102 uberon|uberon ventral_to|ventral_to owl:TransitiveProperty RO:0002082 biolink:NamedThing simultaneous_with Relation between occurrents, shares start and end boundaries.|Relation between occurrents, shares start and end boundaries. tmpxe7fu0cj_hp_relaxed.owl is_equal_to|coincides_with RO:0002082|RO:0002082 t1 simultaneous_with t2 iff:= t1 before_or_simultaneous_with t2 and not (t1 before t2)|t1 simultaneous_with t2 iff:= t1 before_or_simultaneous_with t2 and not (t1 before t2) uberon|uberon simultaneous_with|simultaneous_with David Osumi-Sutherland|David Osumi-Sutherland owl:TransitiveProperty RO:0002223 biolink:NamedThing starts Relation between occurrents, shares a start boundary with.|inverse of starts with|Relation between occurrents, shares a start boundary with.|inverse of starts with tmpxe7fu0cj_hp_relaxed.owl RO:0002223|RO:0002223 Allen|Allen uberon|uberon starts|starts Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002159 biolink:NamedThing serially homologous to tmpxe7fu0cj_hp_relaxed.owl RO:0002159|RO:0002159 uberon|uberon serially_homologous_to|serially_homologous_to owl:ObjectProperty RO:0002372 biolink:NamedThing has muscle origin m has_muscle_origin s iff m is attaches_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to.|m has_muscle_origin s iff m is attached_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to.|m has_muscle_origin s iff m is attached_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to.|m has_muscle_origin s iff m is attaches_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to. tmpxe7fu0cj_hp_relaxed.owl RO:0002372|RO:0002372 The origin is the end of a muscle that attaches to the more fixed part of the skeleton, which is the proximal end in limb muscles|The origin is the end of a muscle that attaches to the more fixed part of the skeleton, which is the proximal end in limb muscles Wikipedia:Insertion_(anatomy)|Wikipedia:Insertion_(anatomy) uberon|uberon has_muscle_origin|has_muscle_origin Chris Mungall|Chris Mungall owl:ObjectProperty http://dbpedia.org/property/origin biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:dbpprop_origin biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002025 biolink:NamedThing has effector activity A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity.|A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity. tmpxe7fu0cj_hp_relaxed.owl This relation is designed for constructing compound molecular functions, typically in combination with one or more regulatory component activity relations.|This relation is designed for constructing compound molecular functions, typically in combination with one or more regulatory component activity relations. dos|dos 2017-09-22 14:14:36+00:00|2017-09-22 14:14:36+00:00 owl:FunctionalProperty RO:0004008 biolink:NamedThing has primary output p has primary output c if (a) p has output c and (b) the goal of process is to modify, produce, or transform c.|p has primary output c if (a) p has output c and (b) the goal of process is to modify, produce, or transform c. tmpxe7fu0cj_hp_relaxed.owl RO:0004008|RO:0004008 cjm|cjm 2018-12-13 11:26:32+00:00|2018-12-13 11:26:32+00:00 external|external has_primary_output|has_primary_output owl:ObjectProperty RO:0002339 biolink:NamedThing has target end location This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from a an initial location to some destination l.|This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from a an initial location to some destination l. tmpxe7fu0cj_hp_relaxed.owl RO:0002339|RO:0002339 external|external has_target_end_location|has_target_end_location Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002573 biolink:NamedThing has modifier A relation that holds between an attribute or a qualifier and another attribute.|A relation that holds between an attribute or a qualifier and another attribute. tmpxe7fu0cj_hp_relaxed.owl RO:0002180|RO:0002180 placeholder relation to indicate normality/abnormality.|placeholder relation to indicate normality/abnormality. This relation is intended to be used in combination with PATO, to be able to refine PATO quality classes using modifiers such as 'abnormal' and 'normal'. It has yet to be formally aligned into an ontological framework; it's not clear what the ontological status of the "modifiers" are.|This relation is intended to be used in combination with PATO, to be able to refine PATO quality classes using modifiers such as 'abnormal' and 'normal'. It has yet to be formally aligned into an ontological framework; it's not clear what the ontological status of the "modifiers" are. qualifier|qualifier Chris Mungall|Chris Mungall owl:ObjectProperty posteriorly_connected_to biolink:NamedThing posteriorly connected to x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y.|x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y. tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:ObjectProperty RO:0002225 biolink:NamedThing develops from part of x develops from part of y if and only if there exists some z such that x develops from z and z is part of y|x develops from part of y if and only if there exists some z such that x develops from z and z is part of y tmpxe7fu0cj_hp_relaxed.owl RO:0002225|RO:0002225 uberon|uberon develops_from_part_of|develops_from_part_of Chris Mungall|Chris Mungall owl:ObjectProperty BSPO:0000120 biolink:NamedThing in left side of X in left side of Y <=> if Y is subdivided into two left and right portions, X is part of the left portion.|X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion.|X in left side of Y <=> if Y is subdivided into two left and right portions, X is part of the left portion.|X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion. tmpxe7fu0cj_hp_relaxed.owl BSPO:0000120|BSPO:0000120 uberon|uberon https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern|https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern in_left_side_of|in_left_side_of owl:ObjectProperty RO:0002207 biolink:NamedThing directly develops from Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y.|Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y. tmpxe7fu0cj_hp_relaxed.owl RO:0002207|RO:0002207 TODO - add child relations from DOS|TODO - add child relations from DOS FBbt|FBbt uberon|uberon directly_develops_from|directly_develops_from Chris Mungall|has developmental precursor|David Osumi-Sutherland|David Osumi-Sutherland|has developmental precursor|Chris Mungall owl:ObjectProperty RO:0003000 biolink:NamedThing produces a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix.|a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. tmpxe7fu0cj_hp_relaxed.owl RO:0003000|RO:0003000 Note that this definition doesn't quite distinguish the output of a transformation process from a production process, which is related to the identity/granularity issue.|Note that this definition doesn't quite distinguish the output of a transformation process from a production process, which is related to the identity/granularity issue. external|uberon|uberon|external produces|produces Melissa Haendel|Melissa Haendel owl:ObjectProperty RO:0002429 biolink:NamedThing involved in positive regulation of c involved in regulation of p if c is involved in some p' and p' positively regulates some p|c involved in regulation of p if c is involved in some p' and p' positively regulates some p tmpxe7fu0cj_hp_relaxed.owl Chris Mungall|Chris Mungall owl:ObjectProperty RO:0019001 biolink:NamedThing positively regulates characteristic A relationship that holds between a process and a characteristic in which process (P) positively regulates characteristic (C) iff: P results in an increase in the intensity or magnitude of C.|A relationship that holds between a process and a characteristic in which process (P) positively regulates characteristic (C) iff: P results in an increase in the intensity or magnitude of C. tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty OBO:cl#has_low_plasma_membrane_amount biolink:NamedThing has_low_plasma_membrane_amount A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617).|A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty RO:0000091 biolink:NamedThing has disposition a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty RO:0002374 biolink:NamedThing derived from ancestral fusion of x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat|x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat.|x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat|x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat. tmpxe7fu0cj_hp_relaxed.owl RO:0002374|RO:0002374 A single bone in one species may correspond to the fusion of two or more bones found as distinct elements in another. For example, tibiofibula has_fused_element tibia. A has_fused_element B does not imply that A has_part some B, rather than A has_part some B', where B' is not a subtype of B (because B is a distinct element but B' is a regional part) but has some evolutionary relationship to B.|A single bone in one species may correspond to the fusion of two or more bones found as distinct elements in another. For example, tibiofibula has_fused_element tibia. A has_fused_element B does not imply that A has_part some B, rather than A has_part some B', where B' is not a subtype of B (because B is a distinct element but B' is a regional part) but has some evolutionary relationship to B. uberon|uberon has_fused_element|has_fused_element owl:ObjectProperty RO:0002313 biolink:NamedThing transports or maintains localization of Holds between p and c when p is a localization process (localization covers maintenance of localization as well as its establishment) and the outcome of this process is to regulate the localization of c.|Holds between p and c when p is a localization process (localization covers maintenance of localization as well as its establishment) and the outcome of this process is to regulate the localization of c. tmpxe7fu0cj_hp_relaxed.owl regulates localization of|regulates localization of RO:0002313|RO:0002313 external|external transports_or_maintains_localization_of|transports_or_maintains_localization_of Chris Mungall|Chris Mungall owl:ObjectProperty BSPO:0005001 biolink:NamedThing intersects midsagittal plane of X intersects_median_plane of iff X crosses the midine plane of Y.|X intersects median plane of iff X crosses the midine plane of Y.|X intersects median plane of iff X crosses the midine plane of Y.|X intersects_median_plane of iff X crosses the midine plane of Y. tmpxe7fu0cj_hp_relaxed.owl BSPO:0005001|BSPO:0005001 uberon|uberon intersects_midsagittal_plane_of|intersects_midsagittal_plane_of owl:ObjectProperty RO:0002495 biolink:NamedThing immediate transformation of x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t|x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t tmpxe7fu0cj_hp_relaxed.owl immediately transforms from|direct_transformation_of RO:0002495|RO:0002495 uberon|uberon immediate_transformation_of|immediate_transformation_of Chris Mungall|Chris Mungall owl:ObjectProperty OBO:SIO_000658 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0002597 biolink:NamedThing capable of negatively regulating Holds between c and p if and only if c is capable of some activity a, and a negatively regulates p.|Holds between c and p if and only if c is capable of some activity a, and a negatively regulates p. tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty RO:0004034 biolink:NamedThing acts upstream of, positive effect c 'acts upstream of, positive effect' p if c is enables f, and f is causally upstream of p, and the direction of f is positive|c 'acts upstream of, positive effect' p if c is enables f, and f is causally upstream of p, and the direction of f is positive tmpxe7fu0cj_hp_relaxed.owl cjm|cjm 2018-01-26 23:53:14+00:00|2018-01-26 23:53:14+00:00 owl:ObjectProperty http://wiki.geneontology.org/index.php/Acts_upstream_of,_positive_effect biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl https://en.wikipedia.org/wiki/Allen%27s_interval_algebra biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON_CORE:extends_fibers_into biolink:NamedThing extends_fibers_into tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:SymmetricProperty FMA:85990 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GOREL:0002004 biolink:NamedThing results_in_fission_of tmpxe7fu0cj_hp_relaxed.owl GOREL:0002004|GOREL:0002004 external|external results_in_fission_of|results_in_fission_of owl:ObjectProperty BSPO:0000059 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl BSPO:0001115 biolink:NamedThing postaxialmost_part_of tmpxe7fu0cj_hp_relaxed.owl BSPO:0001115|BSPO:0001115 uberon|uberon postaxialmost_part_of|postaxialmost_part_of owl:ObjectProperty PMID:19243617 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0015007 biolink:NamedThing increased in magnitude relative to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.|q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. tmpxe7fu0cj_hp_relaxed.owl This relation is used to determine the 'directionality' of relative qualities such as 'increased strength', relative to the parent type, 'strength'.|This relation is used to determine the 'directionality' of relative qualities such as 'increased strength', relative to the parent type, 'strength'. owl:ObjectProperty GOP:goslim_generic biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty UMLS:C0227873 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1516496 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Posterior_column biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON_CORE:pheno_slim biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:pato#value_slim biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:hp#hposlim_core biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Core clinical terminology owl:AnnotationProperty http://www.snomedbrowser.com/Codes/Details/245841005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0042520 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON_CORE:uberon_slim biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://en.wikipedia.org/wiki/Nostril biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GOP:goslim_agr biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:chebi#3_STAR biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty NCBITaxon:order biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:117565 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/368572007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Endocrine_gland biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON_CORE:vertebrate_core biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://www.snomedbrowser.com/Codes/Details/244215004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl https://github.com/RDruzinsky biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0582817 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0226964 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Medial_cuneiform_bone biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/42978003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl FMA:71364 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/308790003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Decussation_of_superior_cerebellar_peduncle biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0152279 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GOP:gocheck_do_not_annotate biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://www.snomedbrowser.com/Codes/Details/181206009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/368571000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:pato#mpath_slim biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://www.snomedbrowser.com/Codes/Details/63716004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Tunica_externa_(vessels) biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0227546 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0227211 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1518429 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:pato#attribute_slim biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty UMLS:C1512243 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/309043004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:pato#relational_slim biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty UMLS:C1179418 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Cervical_plexus biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:pato#disposition_slim biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://en.wikipedia.org/wiki/Antitragus biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/308772004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=638 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244185002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:7878 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362121003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=225 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/182024000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:pato#scalar_slim biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:SubsetProperty biolink:NamedThing subset_property tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty GOP:goslim_chembl biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty UBERON_CORE:efo_slim biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty UMLS:C1518531 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Sympathetic_ganglion biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C2756969 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002559 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/329635002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GOP:goslim_plant biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://orcid.org/0000-0001-5208-3432 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Right_lobe_of_liver biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON_CORE:defined_by_ordinal_series biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty UMLS:C0227952 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://orcid.org/0000-0001-7941-2961 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361515007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1185372 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON_CORE:grouping_class biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://en.wikipedia.org/wiki/Left_lung biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GOP:goslim_drosophila biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://www.snomedbrowser.com/Codes/Details/181234002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/263790009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/263428006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0734203 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Lateral_border_of_the_scapula biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362821001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GOP:goslim_yeast biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://en.wikipedia.org/wiki/Interlobular_ducts biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/426215008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Inferior_oblique_muscle biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Penile_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0584876 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0448281 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:species biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1516792 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=224 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON_CORE:upper_level biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://www.snomedbrowser.com/Codes/Details/44300000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Deep_cerebellar_nuclei biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362110007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GOP:goslim_pombe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://www.snomedbrowser.com/Codes/Details/244731008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Inguinal_canal#Contents biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:pato#cell_quality biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty NCBITaxon:clade biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Tibia biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Sacrum biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/397427005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0225604 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0010097 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Stratified_squamous_epithelium biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Stratum_corneum biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/165269004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0028784 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362542005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361438007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361405003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl https://github.com/wdahdul biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Venule biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=446 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl https://github.com/mellybelly biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:hp#secondary_consequence biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl Consequence of a disorder in another organ system. owl:AnnotationProperty http://www.snomedbrowser.com/Codes/Details/136753005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0149566 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0226271 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0006094 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0032225 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/322151008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280656002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:kingdom biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=292 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361784003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Medial_circumflex_femoral_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0228195 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0205031 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0229962 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON_CORE:non_informative biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty UBERON_CORE:emapa_ehdaa2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://neurolex.org/wiki/Category:Embryonic_organism biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Sphenofrontal_suture biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Eccrine_sweat_gland biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/331712004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Pancreatic_bud biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Upper_extremity_of_humerus biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/External_sphincter_muscle_of_male_urethra biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Zygomaticotemporal_nerve biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0227666 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181143004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl https://github.com/cmungall biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0032718 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C2328219 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GOP:goslim_metagenomics biolink:NamedThing 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http://www.snomedbrowser.com/Codes/Details/280212008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/265802004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181952009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/245175008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Epidermis_(zoology) biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON_CORE:feed_aligned biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://en.wikipedia.org/wiki/Mucous_gland biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0015801 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/312764002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280299003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Aortic_arches#Arch_4 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1283945 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361283005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/45480009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/272695001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/243436005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362840007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Parietal_bone biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244555001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Transverse_tarsal_joint biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1704302 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0043356 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:117569 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0085427 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/55188000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0035278 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244219005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/180962006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/370730008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/303064006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0229949 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/326870003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181414000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:7762 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/425761003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/272627002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Fontanelle biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/370677009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Pulmonary_alveolus biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362528002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/369333000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244848007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Inner_nuclear_layer biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Body_of_vertebra biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0581620 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0010672 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1707411 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Basement_membrane biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Mesentery#Development biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0024687 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/263445001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/360537008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/368908002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Helix_(ear) biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0450295 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl GOP:goslim_flybase_ribbon biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://www.snomedbrowser.com/Codes/Details/277857004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1706825 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0026732 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/91833003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362301008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Waldeyer's_ring biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/304581004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362864008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362855003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Platysma_muscle biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Tela_chorioidea biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Right_ventricle biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244702009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1512940 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Intercarpal_articulations biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181288007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON_CORE:early_development biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty NCBITaxon:Union_0000023 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/308884009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Muscles_of_larynx biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/266135004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181107005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Glabella biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2341 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2463 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Respiratory_bud biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361788000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Anterior_nasal_spine biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Facial_lymph_nodes biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361342009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/245835003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Intertarsal_articulations biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Palatine_aponeurosis biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0935626 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Sacrococcygeal_symphysis biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280692003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0446908 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/264021000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:superkingdom biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Paraxial_mesoderm biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Forehead biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Incisura_anterior_auris biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Right_pulmonary_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Pharynx biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl 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http://www.snomedbrowser.com/Codes/Details/361505001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1181536 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361463007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0458485 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/278858007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Sensory_system biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:ubprop#_upper_level biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty UMLS:C1519040 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0029127 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1409894 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/40118003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Inferior_vena_cava biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl 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biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Stomach#Sections biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0000695 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/279614002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0080322 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0227268 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Seminiferous_tubule biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/368869008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1708734 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/308776001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/263413006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1261046 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Anal_gland biolink:NamedThing 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tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Spermatic_cord biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/278228007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0231068 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0227174 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/23059003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181794000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Wrist biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/155136006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362523006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/57300004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Chondrocranium biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/30180000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181083005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/243995004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Fibrous_rings_of_heart biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0001527 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/279975006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0036622 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/21636001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0038530 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Calcaneofibular_ligament biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280254006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/279139005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/245777007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/5023006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0796494 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244405007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1278746 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362099006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280678009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Pisiform_bone biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Ventricular_system biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Human_mandible biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl 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http://en.wikipedia.org/wiki/Dental_follicle biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:7718 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Pectoral_girdle biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181074000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=778 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Tail_vein biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181287002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362331002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Feces biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Myocardium biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/276157007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/66938003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/360478008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0162370 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Eyebrow biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0040999 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280123002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Ethmoid_bone_sinus biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Tricuspid_valve biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Posterior_cardinal_vein biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/281626000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181220002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362791002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/265391008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362450003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0037925 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/279432008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0682674 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Appendicular_skeleton biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244326008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002633 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/1910005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362826006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0152291 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181756000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0229289 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280587006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Brachial_plexus biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1237 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Myelin biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Nail_(anatomy) biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/264090005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361409009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362131005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181544004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/279264003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181614006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/272676008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181339005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361561007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0027789 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/69354005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/278199004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181163006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0000415 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244674003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:infraclass biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://palaeos.com/vertebrates/bones/gill_arches/images/ReptileHyoids.gif biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181247007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0007776 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Basal_plate_(neural_tube) biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362584002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/138672006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1269782 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0031939 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/278194009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362313003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Accessory_visual_structures biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/304149004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/303280009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Canal_of_the_cervix biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181002002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0229560 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=56 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:phylum biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Mesothelium biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Vestibulocochlear_nerve biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Index_finger biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=639 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0004168 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1708757 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Embryo biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181895009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0227937 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181374006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/303423007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181049003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0734204 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1711401 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0222289 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Alveolar_ridge biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Middle_ear biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:7778 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0814993 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/263415004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/19215005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/277967008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Superior_olivary_complex biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/182440009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1211 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=231 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244726006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362541003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Cartilaginous_joint biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/416631005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/308819008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Condyloid_process biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362401009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Nasal_placode biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Heart_valve#Atrioventricular_valves biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181227004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Lower_lip biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/302528006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1185741 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361930008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0226333 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280889004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244225009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181010001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181844007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Forelimb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0022745 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280648000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Great_auricular_nerve biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/279337001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:1476529 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1283997 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362092002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/263412001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/278748001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362060003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Inferior_pubic_ramus biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181327002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0582819 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0021851 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0022889 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0458421 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/263430008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl https://github.com/obophenotype/uberon/wiki/Skeleton-partonomy-Design-Pattern biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Leptomeninges biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/88545005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0015965 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0003-4183-8865 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0226504 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181455002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181616008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280344009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0037855 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362050007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0226411 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244297008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002314 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:9369 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/302544002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Ciliary_muscle biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/182212002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1710617 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/308828009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0004781 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Interlobar_arteries biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0015450 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0006655 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Petrous_part_of_the_temporal_bone biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0226958 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Testicular_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Vertebra_prominens biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181819004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244774006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2123 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/48852002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=643 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/90132000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Cochlear_nuclei biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/294653003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0042160 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/369225004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/308774003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181126002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl CHEBI:21241 biolink:NamedThing 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biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/65501003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0229314 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1708675 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0226262 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361386004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/180920004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/308773009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244485009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/201712001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0459556 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0227683 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl 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http://www.snomedbrowser.com/Codes/Details/120229002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Permanent_teeth biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/122455009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/External_orifice_of_the_uterus biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0229745 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/303432009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0814992 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0004455 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0222734 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Scapula biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=509 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl ORCID:0000-0003-4148-4606 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Pons biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Intestinal_villus biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Corpus_cavernosum_penis biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0015462 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://neurolex.org/wiki/Category:Adult_organism biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Soleus_muscle biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0262950 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Bone#Woven_or_lamellar biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0222212 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/363130003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/369097009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Lacrimal_gland biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/11931008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361998003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/278876000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl FMA:70911 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181189006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Tarsus_(eyelids) biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1710436 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/314621001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Superior_cerebellar_peduncle biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:33554 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280670002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0752060 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Conus_arteriosus biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361702001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0011429 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361847008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181150000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/302532000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0017133 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/188344009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/308881001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Trabecular_bone biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Recurrent_laryngeal_nerve biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/85546005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0227998 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/182100005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/42049001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0700374 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0226901 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/89358004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0278450 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181964001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Thoracic_splanchnic_nerves biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/50961009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0034052 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0223616 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1280999 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1518306 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/302509004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://uri.neuinfo.org/nif/nifstd/nifext_12 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244673009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362323007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361474003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Brachiocephalic_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Epidermis_(skin) biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0009780 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:7777 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/310655007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Metacarpophalangeal_joint biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl https://upload.wikimedia.org/wikipedia/commons/thumb/a/ac/Corticogenesis_in_a_wild-type_mouse_with_captions_in_english_copy.png/360px-Corticogenesis_in_a_wild-type_mouse_with_captions_in_english_copy.png biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0040960 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/71118002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Hair_whorl biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Levator_palpebrae_superioris biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0039097 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/279557001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0015808 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0028429 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON_CORE:cyclostome_subset biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty UMLS:C0734013 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/263482005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/91727004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181211006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0030296 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0034169 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244730009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0030219 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Xiphoid_process biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0229206 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002151 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/279591002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0152289 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1522467 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Popliteal_lymph_node biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Scalp biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Renal_corpuscle biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/341079007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/303562001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/370666003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361291001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280684007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1288327 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/182116007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0231067 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/279104005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/41159004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Proctodeum biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Digit_(anatomy) biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1281954 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/253684002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0230463 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1708316 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/290029003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244385005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Preganglionic_fibers biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0038151 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Intestine biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361435005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Mental_part_of_inferior_alveolar_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:subphylum biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0458337 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0738366 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181441005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Arteriole biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362915001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361996004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/243932004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:110815 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/2436009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=288 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0039337 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/314908006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/172455006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/243419002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/279330004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1305910 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2889 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Pes_(anatomy) biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/182135007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0041159 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361728003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/182201002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/309044005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Ureteric_bud biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0223492 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl 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http://www.snomedbrowser.com/Codes/Details/280211001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0001625 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/342298001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/44692008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362032000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Greater_palatine_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280047006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362463009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/276966005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244946005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1707051 biolink:NamedThing 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biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/281228008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0025474 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244675002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/40022005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0036629 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/276832000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/243953008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0004600 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/263400000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/421159007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/314146000 biolink:NamedThing 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biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361427007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:9895 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280682006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/245417002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/314142003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/182001007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0022666 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181757009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/External_carotid_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Germinal_epithelium_(female) biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UBERON:0002597 biolink:NamedThing 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tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/691000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362192000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Iris_sphincter_muscle biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Bone_marrow_of_ovary_(hair) biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1711256 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Large_intestine_(anatomy) biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1512970 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/368680005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/263459008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0682577 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Cortical_lobule biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl 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http://www.snomedbrowser.com/Codes/Details/244812005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244197001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1708317 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0927195 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Pulmonary_circulation biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/182034009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/278029005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/370670006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Pharyngeal_groove biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Upper_extremity_of_humerus#Humeral_head biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/278830004 biolink:NamedThing 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biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0446516 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361795009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0226764 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0447117 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181841004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Mandibular_prominence biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0014540 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0230393 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361918002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Caudal_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361799003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Latissimus_dorsi_muscle biolink:NamedThing 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http://www.snomedbrowser.com/Codes/Details/360442003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Sella_turcica biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362429007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362565000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/259740004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Breast biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Renal_papilla biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Crus_of_diaphragm biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Coccyx biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=569 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362880003 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http://www.snomedbrowser.com/Codes/Details/118760003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244307000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/113261001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Intercostal_muscle biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Areolar_glands biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/277765007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/172533001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/359876006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/314626006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Toe biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:31033 biolink:NamedThing 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biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Endplates biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Vestibular_aqueduct biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0006141 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0001074 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244192007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Male_reproductive_system_(human) biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Pharyngeal_part_of_vagus_nerve biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0162512 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Intestinal_epithelium biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Prosencephalon biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0222658 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Basal_forebrain biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/86915006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/27197004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/272682006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Epithelium biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244130001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280045003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244749008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Thalamus biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0682561 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Musculophrenic_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2347 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=557 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/367575006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280508003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/279697005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Nasalis_muscle biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0230238 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0025465 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0039487 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Foramen biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Enteric_ganglia biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/279694003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/142713007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/258491008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361801000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1707990 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Caudate_nucleus biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Striatum biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/422318005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Little_finger biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Maxilla biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=513 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/281481002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Mesonephric_duct biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Facial_vein biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0031774 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0223733 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0222787 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/340163004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://orcid.org/0000-0002-6387-4317 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0223947 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0599333 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/244781004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/182056007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Vaginal_orifice biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001823 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0002630 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0459649 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Bowman%27s_capsule biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl FMA:84019 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0025473 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0033572 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:subgenus biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0229221 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0001613 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280138001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OBO:chebi#has_functional_parent biolink:NamedThing has functional parent tmpxe7fu0cj_hp_relaxed.owl chebi_ontology|chebi_ontology owl:ObjectProperty UBERON_CORE:filtered_through biolink:NamedThing filtered through Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity.|Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity. tmpxe7fu0cj_hp_relaxed.owl Relationship between a fluid and a filtration barrier, where the portion of fluid arises as a transformation of another portion of fluid on the other side of the barrier, with larger particles removed|Relationship between a fluid and a filtration barrier, where the portion of fluid arises as a transformation of another portion of fluid on the other side of the barrier, with larger particles removed uberon|uberon owl:ObjectProperty RO:0015012 biolink:NamedThing reciprocal of q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e.|q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e. tmpxe7fu0cj_hp_relaxed.owl There are frequently two ways to state the same thing: we can say 'spermatocyte lacks asters' or 'asters absent from spermatocyte'. In this case the quality is 'lacking all parts of type' - it is a (relational) quality of the spermatocyte, and it is with respect to instances of 'aster'. One of the popular requirements of PATO is that it continue to support 'absent', so we need to relate statements which use this quality to the 'lacking all parts of type' quality.|There are frequently two ways to state the same thing: we can say 'spermatocyte lacks asters' or 'asters absent from spermatocyte'. In this case the quality is 'lacking all parts of type' - it is a (relational) quality of the spermatocyte, and it is with respect to instances of 'aster'. One of the popular requirements of PATO is that it continue to support 'absent', so we need to relate statements which use this quality to the 'lacking all parts of type' quality. owl:ObjectProperty OBO:cl#lacks_part biolink:NamedThing lacks_part tmpxe7fu0cj_hp_relaxed.owl http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 ?Y|http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 ?Y owl:ObjectProperty OBO:nbo#by_means biolink:NamedThing by_means tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty subdivision_of biolink:NamedThing subdivision of tmpxe7fu0cj_hp_relaxed.owl placeholder relation. X = 'subdivision of A' and subdivision_of some B means that X is the mereological sum of A and B|placeholder relation. X = 'subdivision of A' and subdivision_of some B means that X is the mereological sum of A and B uberon|uberon owl:ObjectProperty results_in_distribution_of biolink:NamedThing results_in_distribution_of tmpxe7fu0cj_hp_relaxed.owl GOREL:0002003|GOREL:0002003 external|external results_in_distribution_of|results_in_distribution_of owl:ObjectProperty OBO:nbo#has-input biolink:NamedThing has-input tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty UBERON_CORE:indirectly_supplies biolink:NamedThing indirectly_supplies a indirectly_supplies s iff a has a branch and the branch supplies or indirectly supplies s.|a indirectly_supplies s iff a has a branch and the branch supplies or indirectly supplies s. tmpxe7fu0cj_hp_relaxed.owl add to RO|add to RO uberon|uberon owl:TransitiveProperty OBO:chebi#has_parent_hydride biolink:NamedThing has parent hydride tmpxe7fu0cj_hp_relaxed.owl chebi_ontology|chebi_ontology owl:ObjectProperty OBO:nbo#qualifier biolink:NamedThing qualifier tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty UBERON_CORE:synapsed_by biolink:NamedThing synapsed by Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it.|Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:ObjectProperty UBERON_CORE:site_of biolink:NamedThing site_of c site_of p if c is the bearer of a disposition that is realized by a process that has p as part.|c site_of p if c is the bearer of a disposition that is realized by a process that has p as part. tmpxe7fu0cj_hp_relaxed.owl capable_of_has_part uberon|uberon owl:ObjectProperty RO:0017001 biolink:NamedThing utilizes X utilizes Y means X and Y are material entities, and X is capable of some process P that has input Y.|X utilizes Y means X and Y are material entities, and X is capable of some process P that has input Y. tmpxe7fu0cj_hp_relaxed.owl 2021-11-08|2021-11-08 A diagnostic testing device utilizes a specimen means that the diagnostic testing device is capable of an assay, and this assay a specimen as its input.|See github ticket https://github.com/oborel/obo-relations/issues/497|A diagnostic testing device utilizes a specimen means that the diagnostic testing device is capable of an assay, and this assay a specimen as its input.|See github ticket https://github.com/oborel/obo-relations/issues/497 A diagnostic testing device utilizes a specimen.|A diagnostic testing device utilizes a specimen. Asiyah Lin|https://orcid.org/0000-0001-9625-1899 Bill Duncan|https://orcid.org/0000-0001-9625-1899 Bill Duncan|Asiyah Lin owl:ObjectProperty OBO:chebi#is_tautomer_of biolink:NamedThing is tautomer of tmpxe7fu0cj_hp_relaxed.owl chebi_ontology|chebi_ontology True|True owl:TransitiveProperty is_enantiomer_of biolink:NamedThing is enantiomer of tmpxe7fu0cj_hp_relaxed.owl chebi_ontology|chebi_ontology True|True owl:ObjectProperty UBERON_CORE:protects biolink:NamedThing protects tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:ObjectProperty OBO:nbo#has_participant biolink:NamedThing has_participant tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty OBO:cl#lacks_plasma_membrane_part biolink:NamedThing lacks_plasma_membrane_part tmpxe7fu0cj_hp_relaxed.owl http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 (http://purl.obolibrary.org/obo/GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y)|http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 (http://purl.obolibrary.org/obo/GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y) owl:ObjectProperty UBERON_CORE:channels_from biolink:NamedThing channels_from tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:TransitiveProperty UBERON_CORE:channels_into biolink:NamedThing channels_into tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:TransitiveProperty BFO:0000056 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:ObjectProperty OBO:chebi#is_substituent_group_from biolink:NamedThing is substituent group from tmpxe7fu0cj_hp_relaxed.owl chebi_ontology|chebi_ontology owl:ObjectProperty UBERON_CORE:conduit_for biolink:NamedThing conduit for x is a conduit for y iff y passes through the lumen of x.|x is a conduit for y iff y passes through the lumen of x. tmpxe7fu0cj_hp_relaxed.owl uberon|uberon owl:ObjectProperty RO:0015011 biolink:NamedThing has cross section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2.|s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. tmpxe7fu0cj_hp_relaxed.owl Example: a spherical object has the quality of being spherical, and the spherical quality has_cross_section round.|Example: a spherical object has the quality of being spherical, and the spherical quality has_cross_section round. owl:ObjectProperty OBO:pr#has_gene_template biolink:NamedThing has_gene_template tmpxe7fu0cj_hp_relaxed.owl protein|protein owl:ObjectProperty HP:0004929 biolink:NamedThing obsolete Coronary atherosclerosis tmpxe7fu0cj_hp_relaxed.owl HP:0001677 True owl:Class HP:0005952 biolink:NamedThing obsolete Decreased pulmonary function tmpxe7fu0cj_hp_relaxed.owl HP:0002795 True owl:Class HP:0040038 biolink:NamedThing obsolete Thin toenail tmpxe7fu0cj_hp_relaxed.owl HP:0012746 HPO:skoehler True owl:Class HP:0004153 biolink:NamedThing obsolete Overgrowth of middle finger tmpxe7fu0cj_hp_relaxed.owl HP:0009316 True owl:Class HP:0011155 biolink:NamedThing obsolete Focal autonomic seizures with altered responsiveness tmpxe7fu0cj_hp_relaxed.owl HP:0032755 peter 2011-10-18T02:24:09Z True owl:Class HP:0025121 biolink:NamedThing obsolete Simple partial occipital seizures tmpxe7fu0cj_hp_relaxed.owl HP:0011165 2016-11-10 11:43:51+00:00 Simple partial occipital seizures is being retired because the clinical manifestations used for seizure classification do not hold true to anatomical landmarks at this level of granularity. An additional dimension based on the anatomical onset of seizures would be too imprecise, and in many instances be incorrect. Whilst clinicians do still talk about a frontal/occipital/temporal/etc. lobe seizure, this is based on assumptions, typical features, or additional EEG or imaging findings. HPO:probinson True owl:Class HP:0011148 biolink:NamedThing obsolete Absence seizures with special features tmpxe7fu0cj_hp_relaxed.owl HP:0002121 2011-10-18T01:56:54Z True owl:Class HP:0007519 biolink:NamedThing obsolete Lack of subcutaneous fatty tissue tmpxe7fu0cj_hp_relaxed.owl HP:0007485 True owl:Class HP:0004187 biolink:NamedThing obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger tmpxe7fu0cj_hp_relaxed.owl HP:0009316 True owl:Class HP:0002459 biolink:NamedThing obsolete Dysautonomia tmpxe7fu0cj_hp_relaxed.owl HP:0012332 True owl:Class HP:0025621 biolink:NamedThing obsolete Increased proportion of CD4+ central memory cells tmpxe7fu0cj_hp_relaxed.owl HP:0410393 This was a duplicate, hence it was obsoleted. https://github.com/obophenotype/human-phenotype-ontology/issues/5695 True owl:Class HP:0040066 biolink:NamedThing obsolete Abnormal morphology of bones of the lower limbs tmpxe7fu0cj_hp_relaxed.owl HP:0040069 True owl:Class HP:0030266 biolink:NamedThing obsolete Abnormality of the sacroiliac notch tmpxe7fu0cj_hp_relaxed.owl HP:0010456 True owl:Class HP:0007786 biolink:NamedThing obsolete Lacunar retinal depigmentation tmpxe7fu0cj_hp_relaxed.owl HP:0007858 True owl:Class HP:0031005 biolink:NamedThing obsolete Hyperalgesia tmpxe7fu0cj_hp_relaxed.owl HP:0012534 2017-05-13 20:21:53+00:00 peter True owl:Class HP:0001322 biolink:NamedThing obsolete Brain very small tmpxe7fu0cj_hp_relaxed.owl HP:0006872 True owl:Class HP:0000547 biolink:NamedThing obsolete Tapetoretinal degeneration tmpxe7fu0cj_hp_relaxed.owl Retinotapetal degeneration HP:0000510 True owl:Class HP:0005397 biolink:NamedThing obsolete Exaggerated cellular immune processes tmpxe7fu0cj_hp_relaxed.owl HP:0011840 True owl:Class HP:0007698 biolink:NamedThing obsolete Retinal pigment epithelial atrophy tmpxe7fu0cj_hp_relaxed.owl True owl:Class HP:0008694 biolink:NamedThing obsolete Hypertrophic labia minora tmpxe7fu0cj_hp_relaxed.owl HP:0008683 True owl:Class HP:0007982 biolink:NamedThing obsolete Central tapetoretinal dystrophy tmpxe7fu0cj_hp_relaxed.owl HP:0000556 True owl:Class HP:0002111 biolink:NamedThing obsolete Restrictive deficit on pulmonary function testing tmpxe7fu0cj_hp_relaxed.owl HP:0002091 True owl:Class HP:0030963 biolink:NamedThing obsolete Abnormal aortic morphology tmpxe7fu0cj_hp_relaxed.owl HP:0001679 True owl:Class HP:0009163 biolink:NamedThing obsolete Abnormal form of the 5th finger tmpxe7fu0cj_hp_relaxed.owl HP:0004207 True owl:Class HP:0045083 biolink:NamedThing obsolete Increased body mass index tmpxe7fu0cj_hp_relaxed.owl HP:0004324 True owl:Class HP:0001675 biolink:NamedThing obsolete Rhythm disturbances associated with pheochromocytoma tmpxe7fu0cj_hp_relaxed.owl HP:0011675 True owl:Class HP:0020098 biolink:NamedThing obsolete Herpes encephalitis tmpxe7fu0cj_hp_relaxed.owl HP:0012302 2019-04-08 18:58:22+00:00 robinp True owl:Class IAO:0100001 biolink:NamedThing term replaced by tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0007923 biolink:NamedThing obsolete Foveal hyperplasia tmpxe7fu0cj_hp_relaxed.owl HP:0000493 True owl:Class HP:0001472 biolink:NamedThing obsolete Familial predisposition tmpxe7fu0cj_hp_relaxed.owl HP:0001426 True owl:Class HP:0005298 biolink:NamedThing obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia tmpxe7fu0cj_hp_relaxed.owl HP:0006695 True owl:Class IAO:isReversiblePropertyChain biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0007654 biolink:NamedThing obsolete Retinal striation tmpxe7fu0cj_hp_relaxed.owl True owl:Class HP:0007783 biolink:NamedThing obsolete Butterfly retinal pigment epithelial dystrophy tmpxe7fu0cj_hp_relaxed.owl HP:0000556 True owl:Class HP:0011357 biolink:NamedThing obsolete Abnormality of hair density tmpxe7fu0cj_hp_relaxed.owl HP:0011362 peter 2012-03-01T02:51:40Z True owl:Class HP:0009044 biolink:NamedThing obsolete Hypoplasia of deltoid muscle tmpxe7fu0cj_hp_relaxed.owl HP:0030241 True owl:Class owl:deprecated biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty GO:0005623 biolink:NamedThing obsolete cell OBSOLETE. The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpxe7fu0cj_hp_relaxed.owl https://github.com/geneontology/go-ontology/issues/19036 cell and encapsulating structures NIF_Subcellular:sao1813327414|Wikipedia:Cell_(biology) This term was obsoleted because it was redundant with the root class of the cell ontology, CL:0000000. True cellular_component owl:Class HP:0007961 biolink:NamedThing obsolete Rarefaction of retinal pigmentation tmpxe7fu0cj_hp_relaxed.owl HP:0000580 True owl:Class HP:0004162 biolink:NamedThing obsolete Radially pointed middle finger phalanges tmpxe7fu0cj_hp_relaxed.owl HP:0009316 True owl:Class HP:0007851 biolink:NamedThing obsolete Temporal displacement of maculae tmpxe7fu0cj_hp_relaxed.owl HP:0001103 True owl:Class HP:0100843 biolink:NamedThing obsolete Glioblastoma tmpxe7fu0cj_hp_relaxed.owl HP:0012174 2011-06-09T06:47:23Z True owl:Class IAO:0000589 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0002773 biolink:NamedThing obsolete Small vertebral bodies tmpxe7fu0cj_hp_relaxed.owl HP:0008479 True owl:Class HP:3000026 biolink:NamedThing obsolete Abnormality of common carotid artery plus branches tmpxe7fu0cj_hp_relaxed.owl HP:0430021 True owl:Class HP:0007901 biolink:NamedThing obsolete Retinal malformation tmpxe7fu0cj_hp_relaxed.owl HP:0000479 True owl:Class HP:0032340 biolink:NamedThing obsolete Abnormal spirometry test tmpxe7fu0cj_hp_relaxed.owl HP:0030878 2019-02-21 12:38:21+00:00 peter True owl:Class HP:0004201 biolink:NamedThing obsolete Expanded proximal phalanx of the ring finger tmpxe7fu0cj_hp_relaxed.owl HP:0009310 True owl:Class HP:0200099 biolink:NamedThing obsolete Peripheral retinal pigmentation abnormalities tmpxe7fu0cj_hp_relaxed.owl HP:0007703 sebastiankohler 2013-06-05T10:24:46Z True owl:Class HP:0011765 biolink:NamedThing obsolete Ectopic anterior pituitary tmpxe7fu0cj_hp_relaxed.owl HP:0012731 True owl:Class HP:0010221 biolink:NamedThing obsolete Pseudoepiphysis of the 2nd metacarpal tmpxe7fu0cj_hp_relaxed.owl HP:0006179 True owl:Class OIO:contradicted_by biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:hasExactSynonym biolink:NamedThing has_exact_synonym tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0000833 biolink:NamedThing obsolete Glucose intolerance tmpxe7fu0cj_hp_relaxed.owl HP:0001952 True owl:Class HP:0004183 biolink:NamedThing obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger tmpxe7fu0cj_hp_relaxed.owl HP:0009357 True owl:Class HP:0008230 biolink:NamedThing obsolete Decreased testosterone in males tmpxe7fu0cj_hp_relaxed.owl HP:0040171 HPO:skoehler True owl:Class HP:0011607 biolink:NamedThing obsolete Transposition of the great arteries with ventricular septal defect tmpxe7fu0cj_hp_relaxed.owl HP:0001669 True owl:Class OIO:exceptions_url biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0004157 biolink:NamedThing obsolete Accessory middle-finger phalanges tmpxe7fu0cj_hp_relaxed.owl HP:0009963 True owl:Class HP:0032461 biolink:NamedThing obsolete Tiger-tail banding tmpxe7fu0cj_hp_relaxed.owl HP:0045055 True owl:Class OIO:inSubset biolink:NamedThing in_subset tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0030013 biolink:NamedThing obsolete Endometriosis tmpxe7fu0cj_hp_relaxed.owl HP:0030127 True owl:Class OIO:possible_exception biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0004174 biolink:NamedThing obsolete Accessory middle phalanx of middle finger tmpxe7fu0cj_hp_relaxed.owl HP:0009963 True owl:Class HP:0040316 biolink:NamedThing obsolete Aplasia of the penis tmpxe7fu0cj_hp_relaxed.owl HP:0030261 True owl:Class IAO:0000233 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0008356 biolink:NamedThing obsolete Combined hyperlipidemia tmpxe7fu0cj_hp_relaxed.owl HP:0003077 True owl:Class OIO:editor_note biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0007930 biolink:NamedThing obsolete Prominent epicanthal folds tmpxe7fu0cj_hp_relaxed.owl HP:0000286 True owl:Class OIO:date_retrieved biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0004367 biolink:NamedThing obsolete Abnormality of glycoprotein metabolism tmpxe7fu0cj_hp_relaxed.owl HP:0001939 True owl:Class RO:0004049 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0032931 biolink:NamedThing obsolete Focal impaired awareness cognitive seizure with impaired attention tmpxe7fu0cj_hp_relaxed.owl HP:0032756 peter True owl:Class HP:0007782 biolink:NamedThing obsolete Peripheral retinal cone degeneration tmpxe7fu0cj_hp_relaxed.owl HP:0007769 True owl:Class HP:0040065 biolink:NamedThing obsolete Abnormal morphology of bones of the upper limbs tmpxe7fu0cj_hp_relaxed.owl HP:0040070 True owl:Class HP:0045016 biolink:NamedThing obsolete Elevated serum long-chain fatty acids tmpxe7fu0cj_hp_relaxed.owl Increased serum long-chain fatty acids HP:0003455 True owl:Class HP:0025266 biolink:NamedThing obsolete Cervical osteoarthritis tmpxe7fu0cj_hp_relaxed.owl HP:0008480 2016-12-18 01:33:11+00:00 HPO:probinson True owl:Class HP:0007435 biolink:NamedThing obsolete Diffuse palmoplantar keratoderma tmpxe7fu0cj_hp_relaxed.owl HP:0007447 True owl:Class OBO:UBPROP_0000003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0004759 biolink:NamedThing obsolete Nodular calcific aortic valve disease tmpxe7fu0cj_hp_relaxed.owl HP:0004380 True owl:Class HP:0000284 biolink:NamedThing obsolete Abnormality of the ocular region tmpxe7fu0cj_hp_relaxed.owl HP:0000315 True owl:Class HP:0005834 biolink:NamedThing obsolete Thumbs hypo/aplastic tmpxe7fu0cj_hp_relaxed.owl HP:0009658 True owl:Class HP:0005114 biolink:NamedThing obsolete Abnormalities of the peripheral arteries tmpxe7fu0cj_hp_relaxed.owl HP:0011004 True owl:Class HP:0011164 biolink:NamedThing obsolete Vegetative auras tmpxe7fu0cj_hp_relaxed.owl HP:0011154 peter 2011-10-18T02:30:10Z True owl:Class HP:0002845 biolink:NamedThing obsolete Increased proportion of peripheral CD3+ T cells tmpxe7fu0cj_hp_relaxed.owl HP:0002851 True owl:Class HP:0005309 biolink:NamedThing obsolete Peripheral vascular insufficiency tmpxe7fu0cj_hp_relaxed.owl HP:0004950 True owl:Class HP:0011156 biolink:NamedThing obsolete Focal autonomic seizures without altered responsiveness tmpxe7fu0cj_hp_relaxed.owl HP:0032740 2011-10-18T02:24:42Z True owl:Class HP:0001380 biolink:NamedThing obsolete Ligamentous laxity tmpxe7fu0cj_hp_relaxed.owl HP:0001388 True owl:Class HP:0007713 biolink:NamedThing obsolete Juvenile zonular cataracts tmpxe7fu0cj_hp_relaxed.owl HP:0010920 True owl:Class HP:0100609 biolink:NamedThing obsolete Hypermenorrhea tmpxe7fu0cj_hp_relaxed.owl HP:0000132 True owl:Class HP:0032703 biolink:NamedThing obsolete Hallucinatory aura tmpxe7fu0cj_hp_relaxed.owl HP:0012007 peter True owl:Class HP:0001150 biolink:NamedThing obsolete Choroidal sclerosis tmpxe7fu0cj_hp_relaxed.owl HP:0000532 True owl:Class HP:0003494 biolink:NamedThing obsolete Loss of heterozygosity, multiple chromosomes tmpxe7fu0cj_hp_relaxed.owl HP:0001428 True owl:Class HP:0002229 biolink:NamedThing obsolete Alopecia areata tmpxe7fu0cj_hp_relaxed.owl HP:0002232 True owl:Class HP:0010700 biolink:NamedThing obsolete Total cataract tmpxe7fu0cj_hp_relaxed.owl HP:0000518 True owl:Class HP:3000001 biolink:NamedThing obsolete Abnormal heart morphology tmpxe7fu0cj_hp_relaxed.owl HP:0001627 True owl:Class HP:0200135 biolink:NamedThing obsolete Macrocephaly due to hydrocephalus tmpxe7fu0cj_hp_relaxed.owl HP:0000256 True owl:Class OBO:UBPROP_0000111 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty RO:0002582 biolink:NamedThing is a defining property chain axiom where second argument is reflexive If R <- P o Q is a defining property chain axiom, then (1) R -> P o Q holds and (2) Q is either reflexive or locally reflexive. A corollary of this is that P SubPropertyOf R. tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0006984 biolink:NamedThing obsolete Distal sensory loss of all modalities tmpxe7fu0cj_hp_relaxed.owl HP:0003409 True owl:Class HP:0008335 biolink:NamedThing obsolete Renal aminoaciduria tmpxe7fu0cj_hp_relaxed.owl HP:0003355 MSH:D000608|UMLS:C0002534 True owl:Class HP:0200144 biolink:NamedThing obsolete Anaphylactoid purpura tmpxe7fu0cj_hp_relaxed.owl HP:0000979 True owl:Class HP:0012455 biolink:NamedThing obsolete Large artery calcification tmpxe7fu0cj_hp_relaxed.owl HP:0003207 True owl:Class HP:0031477 biolink:NamedThing obsolete Abnormal mitral valve morphology tmpxe7fu0cj_hp_relaxed.owl HP:0001633 True owl:Class HP:0010905 biolink:NamedThing obsolete Abnormality of histidine metabolism tmpxe7fu0cj_hp_relaxed.owl HP:0010904 True owl:Class HP:0005794 biolink:NamedThing obsolete Arterial disease of legs tmpxe7fu0cj_hp_relaxed.owl HP:0004950 True owl:Class HP:0200126 biolink:NamedThing obsolete Amyloid cardiomyopathy tmpxe7fu0cj_hp_relaxed.owl HP:0030843 True owl:Class HP:0006877 biolink:NamedThing obsolete Mental retardation, in some tmpxe7fu0cj_hp_relaxed.owl HP:0001249 True owl:Class HP:0007712 biolink:NamedThing obsolete Choroidal dystrophy tmpxe7fu0cj_hp_relaxed.owl HP:0001135 True owl:Class HP:0040193 biolink:NamedThing obsolete Pinealoblastoma tmpxe7fu0cj_hp_relaxed.owl HP:0030408 True owl:Class HP:0007757 biolink:NamedThing obsolete Hypoplasia of choroid tmpxe7fu0cj_hp_relaxed.owl HP:0000610 True owl:Class HP:0006830 biolink:NamedThing obsolete Severe neonatal hypotonia in males tmpxe7fu0cj_hp_relaxed.owl HP:0001319 True owl:Class HP:0100637 biolink:NamedThing obsolete Neoplasia of the nose tmpxe7fu0cj_hp_relaxed.owl HP:0012720 True owl:Class HP:0032695 biolink:NamedThing obsolete Illusory auras tmpxe7fu0cj_hp_relaxed.owl HP:0012008 peter True owl:Class HP:0002880 biolink:NamedThing obsolete Respiratory difficulties tmpxe7fu0cj_hp_relaxed.owl HP:0002098 True owl:Class OIO:shorthand biolink:NamedThing shorthand tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0005402 biolink:NamedThing obsolete Primary T-lymphocyte immune abnormalities tmpxe7fu0cj_hp_relaxed.owl HP:0011840 True owl:Class HP:0002109 biolink:NamedThing obsolete Abnormality of the bronchi tmpxe7fu0cj_hp_relaxed.owl HP:0025426 True owl:Class dct:title biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0041054 biolink:NamedThing obsolete Fractured thoracic segment of trunk tmpxe7fu0cj_hp_relaxed.owl HP:0020110 True owl:Class HP:0004760 biolink:NamedThing obsolete Congenital septal defect tmpxe7fu0cj_hp_relaxed.owl HP:0001671 True owl:Class HP:0004928 biolink:NamedThing obsolete Peripheral arterial stenosis tmpxe7fu0cj_hp_relaxed.owl HP:0004950 True owl:Class HP:0003335 biolink:NamedThing obsolete Low gonadotropins (secondary hypogonadism) tmpxe7fu0cj_hp_relaxed.owl HP:0000044 True owl:Class HP:0001146 biolink:NamedThing obsolete Pigmentary retinal degeneration tmpxe7fu0cj_hp_relaxed.owl HP:0000580 True owl:Class HP:0001587 biolink:NamedThing obsolete Primary ovarian failure tmpxe7fu0cj_hp_relaxed.owl True owl:Class HP:0007744 biolink:NamedThing obsolete Iridoretinal coloboma tmpxe7fu0cj_hp_relaxed.owl HP:0000612 True owl:Class rdfs:comment biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0004202 biolink:NamedThing obsolete Lytic defects of the proximal phalanx of the ring finger tmpxe7fu0cj_hp_relaxed.owl HP:0009312 True owl:Class OIO:hasRelatedSynonym biolink:NamedThing has_related_synonym tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0007736 biolink:NamedThing obsolete Pericentral retinal dystrophy tmpxe7fu0cj_hp_relaxed.owl HP:0000556 True owl:Class HP:0011398 biolink:NamedThing obsolete Central hypotonia tmpxe7fu0cj_hp_relaxed.owl HP:0001252 peter 2012-03-12T04:39:51Z True owl:Class HP:0004203 biolink:NamedThing obsolete Short proximal phalanx of the ring finger tmpxe7fu0cj_hp_relaxed.owl HP:0009300 True owl:Class HP:0004121 biolink:NamedThing obsolete Radially displaced proximal index finger phalanx tmpxe7fu0cj_hp_relaxed.owl HP:0009544 True owl:Class HP:0032982 biolink:NamedThing obsolete Intraalveolar phospholipid accumulation tmpxe7fu0cj_hp_relaxed.owl HP:0006517 peter True owl:Class HP:0005141 biolink:NamedThing obsolete Episodes of ventricular tachycardia tmpxe7fu0cj_hp_relaxed.owl HP:0004751 True owl:Class OBO:CARO_0010000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:Class HP:0001011 biolink:NamedThing obsolete Diaphoresis (with pheochromocytoma) tmpxe7fu0cj_hp_relaxed.owl HP:0000975 True owl:Class HP:0011498 biolink:NamedThing obsolete Partial aniridia tmpxe7fu0cj_hp_relaxed.owl HP:0000526 2012-04-03T07:38:24Z True owl:Class HP:0007692 biolink:NamedThing obsolete Nonnuclear polymorphic congenital cataract tmpxe7fu0cj_hp_relaxed.owl HP:0000519 True owl:Class HP:0012336 biolink:NamedThing obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration tmpxe7fu0cj_hp_relaxed.owl HP:0012446 peter 2013-09-13T08:39:17Z True owl:Class OIO:url biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0031698 biolink:NamedThing obsolete Disseminated Bacillus Calmette-Guerin infection Failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. tmpxe7fu0cj_hp_relaxed.owl HP:0020087 2017-12-17 22:43:27+00:00 peter True owl:Class HP:0008033 biolink:NamedThing obsolete Congenital exotropia tmpxe7fu0cj_hp_relaxed.owl HP:0000577 True owl:Class HP:0007893 biolink:NamedThing obsolete Progressive retinal degeneration tmpxe7fu0cj_hp_relaxed.owl True owl:Class OIO:is_cyclic biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0005173 biolink:NamedThing obsolete Calcific aortic valve stenosis tmpxe7fu0cj_hp_relaxed.owl HP:0004380 True owl:Class HP:0032117 biolink:NamedThing obsolete Macrosaccadic oscillation tmpxe7fu0cj_hp_relaxed.owl HP:0032105 True owl:Class HP:0007739 biolink:NamedThing obsolete Mildly reduced visual acuity tmpxe7fu0cj_hp_relaxed.owl HP:0007663 True owl:Class HP:0004355 biolink:NamedThing obsolete Abnormality of proteoglycan metabolism tmpxe7fu0cj_hp_relaxed.owl HP:0001939 2008-03-17T01:12:00Z True owl:Class HP:0005379 biolink:NamedThing obsolete Severe T lymphocytopenia tmpxe7fu0cj_hp_relaxed.owl HP:0005403 True owl:Class HP:0040077 biolink:NamedThing obsolete Abnormal concentration of calcium in blood tmpxe7fu0cj_hp_relaxed.owl HP:0004363 True owl:Class HP:0006893 biolink:NamedThing obsolete Severely dysplastic cerebellum tmpxe7fu0cj_hp_relaxed.owl HP:0007033 Use Cerebellar dysplasia (HP:0007033) with the modifier Severe. True owl:Class HP:0032881 biolink:NamedThing obsolete Focal aware cognitive seizure with impaired responsiveness tmpxe7fu0cj_hp_relaxed.owl HP:0032681 peter True owl:Class HP:0004186 biolink:NamedThing obsolete Large epiphysis of terminal phalanx of the middle finger tmpxe7fu0cj_hp_relaxed.owl HP:0009316 True owl:Class dc:date biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0008017 biolink:NamedThing obsolete Depigmented lesions of the retinal pigment epithelium tmpxe7fu0cj_hp_relaxed.owl HP:0007680 True owl:Class HP:0030340 biolink:NamedThing obsolete Increased circulating gonadotropin level tmpxe7fu0cj_hp_relaxed.owl HP:0000837 True owl:Class HP:0005111 biolink:NamedThing obsolete Dilatation of the ascending aorta tmpxe7fu0cj_hp_relaxed.owl HP:0004970 True owl:Class HP:0007702 biolink:NamedThing obsolete Pigmentary retinal deposits tmpxe7fu0cj_hp_relaxed.owl HP:0000580 True owl:Class HP:0004083 biolink:NamedThing obsolete Laterally deviated terminal thumb phalanx tmpxe7fu0cj_hp_relaxed.owl HP:0005895 True owl:Class HP:0004110 biolink:NamedThing obsolete Radially deviated index finger phalanges tmpxe7fu0cj_hp_relaxed.owl HP:0009542 True owl:Class OIO:reference biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:count biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0004193 biolink:NamedThing obsolete Expanded phalanges of the ring finger tmpxe7fu0cj_hp_relaxed.owl HP:0009172 True owl:Class HP:0001226 biolink:NamedThing obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits tmpxe7fu0cj_hp_relaxed.owl HP:0006121 True owl:Class OIO:logical-definition-view-relation biolink:NamedThing logical-definition-view-relation tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0040083 biolink:NamedThing obsolete Toe walking Toe walking is a pattern of walking in which a person walks on balls of his or her feet, with no contact between the heels and ground. Toe-walking is common in children who are learning to walk, but most children outgrow it around the age of two years. This term refers to the persistance of toe-walking beyond the usual age. tmpxe7fu0cj_hp_relaxed.owl HP:0030051 True owl:Class HP:0011606 biolink:NamedThing obsolete Transposition of the great arteries with intact ventricular septum tmpxe7fu0cj_hp_relaxed.owl HP:0001669 True owl:Class HP:0007597 biolink:NamedThing obsolete Congenital palmoplantar keratodermia tmpxe7fu0cj_hp_relaxed.owl HP:0007545 True owl:Class HP:0000489 biolink:NamedThing obsolete Abnormality of globe location or size tmpxe7fu0cj_hp_relaxed.owl HP:0100886|HP:0100887 True owl:Class OIO:creation_date biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:editor biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0410032 biolink:NamedThing obsolete Cleft of uvula tmpxe7fu0cj_hp_relaxed.owl HP:0000193 True owl:Class HP:0007316 biolink:NamedThing obsolete Involuntary writhing movements tmpxe7fu0cj_hp_relaxed.owl HP:0002305 True owl:Class HP:0030152 biolink:NamedThing obsolete Biliary tract neoplasm tmpxe7fu0cj_hp_relaxed.owl HP:0100574 True owl:Class HP:0001724 biolink:NamedThing obsolete Aortic dilatation tmpxe7fu0cj_hp_relaxed.owl HP:0004942 True owl:Class OIO:consider biolink:NamedThing consider tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0007798 biolink:NamedThing obsolete Foveal dystrophy tmpxe7fu0cj_hp_relaxed.owl HP:0000493 True owl:Class HP:0007163 biolink:NamedThing obsolete Corticospinal tract disease in lower limbs tmpxe7fu0cj_hp_relaxed.owl HP:0007256 True owl:Class HP:0200129 biolink:NamedThing obsolete Calcific mitral stenosis tmpxe7fu0cj_hp_relaxed.owl HP:0001718 True owl:Class HP:0012291 biolink:NamedThing obsolete Tracheal neoplasm tmpxe7fu0cj_hp_relaxed.owl HP:0100551 peter 2013-04-11T05:49:21Z True owl:Class HP:0008051 biolink:NamedThing obsolete Abnormality of the retinal pigment epithelium tmpxe7fu0cj_hp_relaxed.owl HP:0007703 True owl:Class OIO:inferred_by biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0002924 biolink:NamedThing obsolete Decreased circulating aldosterone level tmpxe7fu0cj_hp_relaxed.owl HP:0004319 True owl:Class HP:0007949 biolink:NamedThing obsolete Progressive macular scarring tmpxe7fu0cj_hp_relaxed.owl True owl:Class dct:license biolink:NamedThing license tmpxe7fu0cj_hp_relaxed.owl http://purl.org/dc/terms/license uberon True dcterms-license owl:AnnotationProperty HP:0033463 biolink:NamedThing obsolete Elevated circulating palmitoleylcarnitine concentration tmpxe7fu0cj_hp_relaxed.owl HP:0031544 2021-01-09 22:30:56+00:00 peter True owl:Class HP:0001606 biolink:NamedThing obsolete Vocal cord paralysis (caused by tumor impingement) tmpxe7fu0cj_hp_relaxed.owl HP:0001605 True owl:Class OIO:source biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0007810 biolink:NamedThing obsolete Progressive bifocal chorioretinal atrophy tmpxe7fu0cj_hp_relaxed.owl HP:0000533 True owl:Class OBO:hsapdv#start_mpb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0012374 biolink:NamedThing obsolete Abnormal globe morphology tmpxe7fu0cj_hp_relaxed.owl HP:0012372 True owl:Class HP:0004090 biolink:NamedThing obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis tmpxe7fu0cj_hp_relaxed.owl HP:0009662 True owl:Class OIO:connected_by biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0004192 biolink:NamedThing obsolete Bracket epiphyses of the 4th finger tmpxe7fu0cj_hp_relaxed.owl HP:0009394 True owl:Class HP:0007659 biolink:NamedThing obsolete Decreased retinal pigmentation with dispersion tmpxe7fu0cj_hp_relaxed.owl HP:0007703 True owl:Class HP:0005848 biolink:NamedThing obsolete Bifid thumb distal phalanx tmpxe7fu0cj_hp_relaxed.owl HP:0009611 True owl:Class OBO:UBPROP_0000015 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0008024 biolink:NamedThing obsolete Congenital nuclear cataract tmpxe7fu0cj_hp_relaxed.owl HP:0100018 True owl:Class HP:0005409 biolink:NamedThing obsolete Markedly reduced T cell function tmpxe7fu0cj_hp_relaxed.owl HP:0005435 True owl:Class IAO:0000601 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0032697 biolink:NamedThing obsolete Focal cognitive seizure with deja vu/jamais vu A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation. tmpxe7fu0cj_hp_relaxed.owl HP:0012004 peter True owl:Class OIO:exceptions biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0007758 biolink:NamedThing obsolete Congenital visual impairment tmpxe7fu0cj_hp_relaxed.owl HP:0000505 True owl:Class HP:0007808 biolink:NamedThing obsolete Bilateral retinal coloboma tmpxe7fu0cj_hp_relaxed.owl HP:0000480 True owl:Class HP:0000655 biolink:NamedThing obsolete Vitreoretinal degeneration tmpxe7fu0cj_hp_relaxed.owl HP:0007773 True owl:Class HP:0001400 biolink:NamedThing obsolete Hepatic abscesses due to immunodeficiency tmpxe7fu0cj_hp_relaxed.owl HP:0100523 True owl:Class HP:0003490 biolink:NamedThing obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA tmpxe7fu0cj_hp_relaxed.owl HP:0003150 True owl:Class HP:0005549 biolink:NamedThing obsolete Congenital neutropenia tmpxe7fu0cj_hp_relaxed.owl This term was obsoleted - for annotation of congenital neutropenia, please use the class HP_0001875 Neutropenia and the Modifier Congenital Onset. HP:0001875 True owl:Class HP:0003553 biolink:NamedThing obsolete Cellulitis due to immunodeficiency tmpxe7fu0cj_hp_relaxed.owl HP:0100658 True owl:Class HP:0009090 biolink:NamedThing obsolete Facial diplegic appearance tmpxe7fu0cj_hp_relaxed.owl HP:0001349 True owl:Class HP:0041158 biolink:NamedThing obsolete Fractured trunk tmpxe7fu0cj_hp_relaxed.owl HP:0020110 True owl:Class HP:0006158 biolink:NamedThing obsolete Finger joint hyperextensibility tmpxe7fu0cj_hp_relaxed.owl True owl:Class HP:0004986 biolink:NamedThing obsolete Rudimentary to absent fibulae tmpxe7fu0cj_hp_relaxed.owl HP:0006381 True owl:Class IAO:0000232 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0003975 biolink:NamedThing obsolete Chevron-shaped/cone-shaped radius tmpxe7fu0cj_hp_relaxed.owl HP:0004000 True owl:Class HP:0004194 biolink:NamedThing obsolete Hypoplastic phalanges of the ring finger tmpxe7fu0cj_hp_relaxed.owl HP:0009408 True owl:Class HP:0007825 biolink:NamedThing obsolete Cataracts develop in second or third decade tmpxe7fu0cj_hp_relaxed.owl HP:0000518 True owl:Class HP:0005921 biolink:NamedThing obsolete Abnormal ossification of hand bones tmpxe7fu0cj_hp_relaxed.owl HP:0010660 True owl:Class HP:0032529 biolink:NamedThing obsolete Elevated circulating gamma-aminobutyric acid concentration tmpxe7fu0cj_hp_relaxed.owl HP:0410053 2019-05-27 12:51:41+00:00 peter True owl:Class OIO:consistent_with biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:UBPROP_0000202 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0008036 biolink:NamedThing obsolete Rod-cone dystrophy tmpxe7fu0cj_hp_relaxed.owl True owl:Class urn:swrl#w biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable HP:0000611 biolink:NamedThing obsolete Choroid coloboma tmpxe7fu0cj_hp_relaxed.owl HP:0000567 True owl:Class HP:0200095 biolink:NamedThing obsolete Anterior open bite tmpxe7fu0cj_hp_relaxed.owl HP:0009102 sebastiankohler 2013-06-04T03:04:56Z True owl:Class OIO:seeAlso biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0500010 biolink:NamedThing obsolete Increased cholesterol esters tmpxe7fu0cj_hp_relaxed.owl HP:0031211 True owl:Class HP:0410387 biolink:NamedThing obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells tmpxe7fu0cj_hp_relaxed.owl HP:0025624 This term was a duplicate, hence it was obsoleted. https://github.com/obophenotype/human-phenotype-ontology/issues/5696 True owl:Class OIO:id biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:exactly biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0001676 biolink:NamedThing obsolete Palpitations (with pheochromocytoma) tmpxe7fu0cj_hp_relaxed.owl HP:0001962 True owl:Class HP:0003464 biolink:NamedThing obsolete Abnormal cholesterol homeostasis tmpxe7fu0cj_hp_relaxed.owl HP:0003107 True owl:Class OIO:hasNarrowSynonym biolink:NamedThing has_narrow_synonym tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty RO:0002175 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0010457 biolink:NamedThing obsolete Widening of the sacrosciatic notch tmpxe7fu0cj_hp_relaxed.owl HP:0008798 peter 2009-09-15T08:16:32Z True owl:Class HP:0007095 biolink:NamedThing obsolete Frontoparietal polymicrogyria tmpxe7fu0cj_hp_relaxed.owl HP:0012650 True owl:Class OIO:hasAlternativeId biolink:NamedThing has_alternative_id tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:chebi/formula biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0004066 biolink:NamedThing obsolete Laterally deviated thumb phalanges tmpxe7fu0cj_hp_relaxed.owl HP:0009602 True owl:Class HP:0005375 biolink:NamedThing obsolete Partial cellular immunodeficiency tmpxe7fu0cj_hp_relaxed.owl HP:0005374 True owl:Class OIO:hasOBONamespace biolink:NamedThing has_obo_namespace tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0001113 biolink:NamedThing obsolete Early cataracts tmpxe7fu0cj_hp_relaxed.owl HP:0000518 True owl:Class HP:0032483 biolink:NamedThing obsolete Abnormal fecal test result tmpxe7fu0cj_hp_relaxed.owl HP:0031685 2019-04-11 11:37:42+00:00 peter True owl:Class HP:0031988 biolink:NamedThing obsolete Muscle spasm tmpxe7fu0cj_hp_relaxed.owl HP:0003394 True owl:Class HP:0004143 biolink:NamedThing obsolete Radially deviated terminal index finger phalanx tmpxe7fu0cj_hp_relaxed.owl HP:0009542 True owl:Class HP:0008012 biolink:NamedThing obsolete Congenital myopia tmpxe7fu0cj_hp_relaxed.owl HP:0000545 True owl:Class urn:swrl#mf2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable BFO:0000180 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0007981 biolink:NamedThing obsolete Concentric narrowing of visual field tmpxe7fu0cj_hp_relaxed.owl HP:0001133 True owl:Class HP:0031900 biolink:NamedThing obsolete Abnormal serum tryptase concentration tmpxe7fu0cj_hp_relaxed.owl HP:0031901 2018-05-19 15:14:54+00:00 peter True owl:Class OIO:missing_from biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0006504 biolink:NamedThing obsolete Anomaly of the limb diaphyses morphology tmpxe7fu0cj_hp_relaxed.owl Abnormality of shaft of long bone of the limbs HP:0000940 peter 2008-03-28T06:47:00Z True owl:Class HP:0004185 biolink:NamedThing obsolete Fused epiphysis of terminal phalanx of the middle finger tmpxe7fu0cj_hp_relaxed.owl HP:0009316 True owl:Class HP:0009449 biolink:NamedThing obsolete Hypoplastic/small phalanges of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl HP:0009447 True owl:Class HP:0008803 biolink:NamedThing obsolete Narrow sacroiliac notch tmpxe7fu0cj_hp_relaxed.owl HP:0003375 True owl:Class HP:0007691 biolink:NamedThing obsolete Short curly eyelashes tmpxe7fu0cj_hp_relaxed.owl HP:0010764|HP:0007665 True owl:Class RO:0002581 biolink:NamedThing is a defining property chain axiom If R <- P o Q is a defining property chain axiom, then it also holds that R -> P o Q. Note that this cannot be expressed directly in OWL tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0032364 biolink:NamedThing obsolete Abnormal CSF amino acid level tmpxe7fu0cj_hp_relaxed.owl HP:0500184 True owl:Class HP:0410004 biolink:NamedThing obsolete Cleft secondary palate tmpxe7fu0cj_hp_relaxed.owl HP:0000175 True owl:Class HP:0003421 biolink:NamedThing obsolete Platyspondyly (childhood) tmpxe7fu0cj_hp_relaxed.owl HP:0000926 True owl:Class HP:0040037 biolink:NamedThing obsolete Thin fingernail (obsolete) tmpxe7fu0cj_hp_relaxed.owl HP:0012742 HPO:skoehler True owl:Class OBO:hp#is_observable_through biolink:NamedThing is_observable_through tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0030073 biolink:NamedThing obsolete Pharyngeal neoplasm tmpxe7fu0cj_hp_relaxed.owl HP:0100638 True owl:Class HP:0004544 biolink:NamedThing obsolete Pointed frontal hairline tmpxe7fu0cj_hp_relaxed.owl HP:0000349 True owl:Class OIO:submitter biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0007756 biolink:NamedThing obsolete Slitlike anterior chamber angles in children tmpxe7fu0cj_hp_relaxed.owl HP:0000594 True owl:Class http://swrl.stanford.edu/ontologies/3.3/swrla.owl#isRuleEnabled biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0033276 biolink:NamedThing obsolete Glomerular endocapillary hypercellularity tmpxe7fu0cj_hp_relaxed.owl 2020-11-28 16:29:10+00:00 peter True owl:Class HP:0002622 biolink:NamedThing obsolete Dissecting aortic dilatation tmpxe7fu0cj_hp_relaxed.owl HP:0002647 True owl:Class HP:0500014 biolink:NamedThing obsolete Abnormal test result tmpxe7fu0cj_hp_relaxed.owl HP:0000118 True owl:Class HP:0001613 biolink:NamedThing obsolete Hoarse voice (caused by tumor impingement) tmpxe7fu0cj_hp_relaxed.owl HP:0001609 True owl:Class HP:0100805 biolink:NamedThing obsolete Precocious menopause tmpxe7fu0cj_hp_relaxed.owl True owl:Class HP:0003152 biolink:NamedThing obsolete Increased serum 1,25-dihydroxyvitamin D3 tmpxe7fu0cj_hp_relaxed.owl HP:0031415 True owl:Class HP:0033659 biolink:NamedThing obsolete Crazy-paving pattern tmpxe7fu0cj_hp_relaxed.owl HP:0025391 2021-02-27 14:32:03+00:00 peter True owl:Class OBO:UBPROP_0000012 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0002755 biolink:NamedThing obsolete Osteomyelitis due to immunodeficiency tmpxe7fu0cj_hp_relaxed.owl HP:0002754 True owl:Class HP:0002631 biolink:NamedThing obsolete Dilatation of ascending aorta tmpxe7fu0cj_hp_relaxed.owl HP:0002616 True owl:Class HP:0025191 biolink:NamedThing obsolete Segmental myoclonic seizures tmpxe7fu0cj_hp_relaxed.owl HP:0011166 2016-12-04 23:02:24+00:00 HPO:probinson True owl:Class HP:0012140 biolink:NamedThing obsolete Abnormality of cells of the lymphoid lineage tmpxe7fu0cj_hp_relaxed.owl HP:0004332 True owl:Class OIO:conflicts biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0001145 biolink:NamedThing obsolete Chorioretinopathy tmpxe7fu0cj_hp_relaxed.owl HP:0000532 True owl:Class HP:0011016 biolink:NamedThing Abnormality of urine glucose concentration tmpxe7fu0cj_hp_relaxed.owl HP:0003076 peter 2011-02-21T11:09:32Z True owl:Class HP:0004196 biolink:NamedThing obsolete Short phalanges of the ring finger tmpxe7fu0cj_hp_relaxed.owl HP:0009408 True owl:Class HP:0002189 biolink:NamedThing obsolete Excessive daytime sleepiness tmpxe7fu0cj_hp_relaxed.owl HP:0001262 True owl:Class HP:0030524 biolink:NamedThing obsolete Peripheral visual field constriction with 30-39 degrees central field preserved tmpxe7fu0cj_hp_relaxed.owl HP:0030525 True owl:Class HP:0006436 biolink:NamedThing obsolete Shortening of the tibia tmpxe7fu0cj_hp_relaxed.owl HP:0005736 True human_phenotype owl:Class HP:0004038 biolink:NamedThing obsolete Bony spicule of ulnar epiphyseal plate tmpxe7fu0cj_hp_relaxed.owl obsoleted on July 11, 2019. True owl:Class OIO:is_indirect biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0011349 biolink:NamedThing obsolete Abducens palsy tmpxe7fu0cj_hp_relaxed.owl HP:0006897 peter 2012-03-01T10:30:20Z True owl:Class urn:swrl#y biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable HP:0007852 biolink:NamedThing obsolete Pericentral pigmentary retinopathy tmpxe7fu0cj_hp_relaxed.owl HP:0000580 True owl:Class HP:0004175 biolink:NamedThing obsolete Periosteal new bone of middle phalanx of middle-finger tmpxe7fu0cj_hp_relaxed.owl HP:0004172 True owl:Class HP:0007945 biolink:NamedThing obsolete Choroidal degeneration tmpxe7fu0cj_hp_relaxed.owl HP:0200065 True owl:Class HP:0003114 biolink:NamedThing obsolete Abnormal cardiological findings tmpxe7fu0cj_hp_relaxed.owl HP:0001626 True owl:Class HP:0012201 biolink:NamedThing obsolete Reduced prothrombin activity tmpxe7fu0cj_hp_relaxed.owl HP:0008151 True owl:Class HP:0410007 biolink:NamedThing obsolete Abnormality of cartilage morphology tmpxe7fu0cj_hp_relaxed.owl HP:0002763 True owl:Class HP:0005837 biolink:NamedThing obsolete Joint dislocations in young adult tmpxe7fu0cj_hp_relaxed.owl HP:0001373 True owl:Class HP:0005299 biolink:NamedThing obsolete Premature peripheral vascular disease tmpxe7fu0cj_hp_relaxed.owl HP:0004950 True owl:Class HP:0025462 biolink:NamedThing obsolete Abnormal cellular physiology tmpxe7fu0cj_hp_relaxed.owl HP:0011017 2017-05-07 11:16:16+00:00 True owl:Class OIO:proportion biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0002564 biolink:NamedThing obsolete Malformation of the heart and great vessels tmpxe7fu0cj_hp_relaxed.owl HP:0030680 True owl:Class HP:0005315 biolink:NamedThing obsolete Peripheral artery occlusive disease tmpxe7fu0cj_hp_relaxed.owl HP:0004950 True owl:Class OBO:hp#uk_spelling biolink:NamedThing UK spelling tmpxe7fu0cj_hp_relaxed.owl HPO:skoehler owl:AnnotationProperty OBO:hp#display_label biolink:NamedThing display label tmpxe7fu0cj_hp_relaxed.owl 2018-07-05 13:18:08+00:00 peter owl:AnnotationProperty HP:0040199 biolink:NamedThing obsolete Flat midface tmpxe7fu0cj_hp_relaxed.owl HP:0011800 True owl:Class HP:0004138 biolink:NamedThing obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger tmpxe7fu0cj_hp_relaxed.owl HP:0009541 True owl:Class HP:0009448 biolink:NamedThing obsolete Aplasia of the phalanges of the 3rd finger tmpxe7fu0cj_hp_relaxed.owl HP:0009447 True owl:Class HP:0007869 biolink:NamedThing obsolete Peripheral retinopathy tmpxe7fu0cj_hp_relaxed.owl True owl:Class HP:0002271 biolink:NamedThing obsolete Autonomic dysregulation tmpxe7fu0cj_hp_relaxed.owl HP:0012332 True owl:Class HP:0011162 biolink:NamedThing obsolete Psychic auras tmpxe7fu0cj_hp_relaxed.owl HP:0032680 peter 2011-10-18T02:29:23Z True owl:Class HP:0005364 biolink:NamedThing obsolete Severe viral infections tmpxe7fu0cj_hp_relaxed.owl HP:0004429 True owl:Class HP:0007801 biolink:NamedThing obsolete Fishnet retinal pigmentation tmpxe7fu0cj_hp_relaxed.owl HP:0007703 True owl:Class HP:0009621 biolink:NamedThing obsolete Ulnar deviation of the thumb tmpxe7fu0cj_hp_relaxed.owl HP:0009602 True owl:Class HP:0005296 biolink:NamedThing obsolete Occlusive vascular disease tmpxe7fu0cj_hp_relaxed.owl HP:0004950 True owl:Class OIO:hasScope biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:note biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:hsapdv#start_ypb biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0004184 biolink:NamedThing obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger tmpxe7fu0cj_hp_relaxed.owl HP:0009423 True owl:Class HP:0007868 biolink:NamedThing obsolete Age-related macular degeneration tmpxe7fu0cj_hp_relaxed.owl HP:0000608 True owl:Class HP:0009620 biolink:NamedThing obsolete Radial deviation of the thumb tmpxe7fu0cj_hp_relaxed.owl HP:0009602 True owl:Class HP:0004144 biolink:NamedThing obsolete Duplication of terminal index finger phalanx tmpxe7fu0cj_hp_relaxed.owl HP:0009948 True owl:Class dct:contributor biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0005099 biolink:NamedThing obsolete Severe hydrops fetalis tmpxe7fu0cj_hp_relaxed.owl Severe hydrops HP:0001789 True owl:Class OBO:UBPROP_0000007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0030523 biolink:NamedThing obsolete Peripheral visual field constriction with 40-50 degrees central field preserved tmpxe7fu0cj_hp_relaxed.owl HP:0030525 True owl:Class HP:0009885 biolink:NamedThing obsolete Prenatal short stature tmpxe7fu0cj_hp_relaxed.owl HP:0001511 True owl:Class HP:0025541 biolink:NamedThing obsolete Decreased activity of complement receptor tmpxe7fu0cj_hp_relaxed.owl HP:0005339 HPO:probinson True owl:Class HP:0006525 biolink:NamedThing obsolete Lung segmentation defects tmpxe7fu0cj_hp_relaxed.owl HP:0002101 True owl:Class HP:0025622 biolink:NamedThing obsolete Decreased proportion of CD4+ central memory cells tmpxe7fu0cj_hp_relaxed.owl HP:0410388 Term was a duplicate, hence it was obsoleted. https://github.com/obophenotype/human-phenotype-ontology/issues/5695 True owl:Class HP:0004953 biolink:NamedThing obsolete Dilatation of abdominal aorta tmpxe7fu0cj_hp_relaxed.owl HP:0005112 True owl:Class HP:0031902 biolink:NamedThing obsolete Decreased serum mast cell beta-tryptase concentration tmpxe7fu0cj_hp_relaxed.owl 2018-05-19 15:17:42+00:00 Clinically, there is no abnormal reduction in tryptase activity and thus this term was incorrect and should not be used. HP:0031901 peter True owl:Class HP:0007829 biolink:NamedThing obsolete Diffuse retinal cone degeneration tmpxe7fu0cj_hp_relaxed.owl HP:0000546 True owl:Class RO:0002174 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0000057 biolink:NamedThing obsolete Clitoromegaly tmpxe7fu0cj_hp_relaxed.owl HP:0008665 True owl:Class http://purl.org/spar/cito/citesAsAuthority biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:external_class biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0007748 biolink:NamedThing obsolete Irido-fundal coloboma tmpxe7fu0cj_hp_relaxed.owl HP:0000612 True owl:Class IAO:0000114 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0002377 biolink:NamedThing obsolete Paraganglioma-related cranial nerve palsy tmpxe7fu0cj_hp_relaxed.owl HP:0006824 True owl:Class OBO:ncbitaxon#has_rank biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0007314 biolink:NamedThing obsolete White matter neuronal heterotopia tmpxe7fu0cj_hp_relaxed.owl HP:0002282 True owl:Class HP:0040290 biolink:NamedThing obsolete Abnormality of skeletal muscles tmpxe7fu0cj_hp_relaxed.owl True owl:Class HP:0001673 biolink:NamedThing obsolete Tachycardia (with pheochromocytoma) tmpxe7fu0cj_hp_relaxed.owl HP:0001649 True owl:Class HP:0006901 biolink:NamedThing obsolete Impaired thermal sensitivity tmpxe7fu0cj_hp_relaxed.owl HP:0010829 True owl:Class HP:0001122 biolink:NamedThing obsolete Aplasia/Hypoplasia of the choroid tmpxe7fu0cj_hp_relaxed.owl HP:0000610 True owl:Class HP:0030971 biolink:NamedThing obsolete Abnormal vena cava morphology tmpxe7fu0cj_hp_relaxed.owl HP:0005345 True owl:Class OBO:UBPROP_0000005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0030332 biolink:NamedThing obsolete Abnormal T cell morphology tmpxe7fu0cj_hp_relaxed.owl HP:0002843 True owl:Class HP:0008008 biolink:NamedThing obsolete Progressive central visual loss tmpxe7fu0cj_hp_relaxed.owl True owl:Class OBO:chebi/mass biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0004161 biolink:NamedThing obsolete Periosteal new bone of middle finger phalanges tmpxe7fu0cj_hp_relaxed.owl HP:0009316 True owl:Class RO:0004036 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0003340 biolink:NamedThing obsolete Abnormal dermatological laboratory findings tmpxe7fu0cj_hp_relaxed.owl HP:0000951 True owl:Class HP:0032683 biolink:NamedThing obsolete Focal aware cognitive seizure with impaired attention tmpxe7fu0cj_hp_relaxed.owl HP:0032681 peter True owl:Class HP:0004168 biolink:NamedThing obsolete Radially pointed proximal middle-finger phalanx tmpxe7fu0cj_hp_relaxed.owl HP:0009316 True owl:Class HP:0045013 biolink:NamedThing obsolete Decreased urinary glucose concentration tmpxe7fu0cj_hp_relaxed.owl HP:0011016 True owl:Class HP:0030960 biolink:NamedThing obsolete Abnormal pupillary morphology tmpxe7fu0cj_hp_relaxed.owl HP:0000615 True owl:Class IAO:0000118 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty urn:swrl:var#y biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable HP:0001487 biolink:NamedThing obsolete Hypopigmented fundi tmpxe7fu0cj_hp_relaxed.owl HP:0007894 True owl:Class HP:0007409 biolink:NamedThing obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs tmpxe7fu0cj_hp_relaxed.owl HP:0003758 True owl:Class HP:0040180 biolink:NamedThing obsolete Hyperkeratosis pilaris tmpxe7fu0cj_hp_relaxed.owl HP:0032152 HPO:skoehler True owl:Class HP:0030422 biolink:NamedThing obsolete Papillary cystadenoma of the epididymis tmpxe7fu0cj_hp_relaxed.owl HP:0009715 True owl:Class OBO:chebi/charge biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty IAO:0000602 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:UBPROP_0000006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0005130 biolink:NamedThing obsolete Restrictive heart failure tmpxe7fu0cj_hp_relaxed.owl HP:0001723 True owl:Class HP:0007087 biolink:NamedThing obsolete Involuntary jerking movements tmpxe7fu0cj_hp_relaxed.owl HP:0001336 True owl:Class HP:0003295 biolink:NamedThing obsolete Impaired FSH and LH secretion tmpxe7fu0cj_hp_relaxed.owl HP:0030339 True owl:Class OIO:composition biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty rdfs:label biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:inconsistent_with biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0005833 biolink:NamedThing obsolete Joint swelling onset late infancy tmpxe7fu0cj_hp_relaxed.owl HP:0001386 True owl:Class HP:0004954 biolink:NamedThing obsolete Dilatation of the descending aorta tmpxe7fu0cj_hp_relaxed.owl HP:0004959 True owl:Class urn:swrl#a2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OIO:todo biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:hasOBOFormatVersion biolink:NamedThing has_obo_format_version tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0007910 biolink:NamedThing obsolete Nonprogressive congenital retinal dystrophy tmpxe7fu0cj_hp_relaxed.owl HP:0000556 True owl:Class HP:0004496 biolink:NamedThing obsolete Posterior choanal atresia tmpxe7fu0cj_hp_relaxed.owl HP:0000453 True owl:Class HP:0007956 biolink:NamedThing obsolete Bilateral choroid coloboma tmpxe7fu0cj_hp_relaxed.owl HP:0000567 True owl:Class urn:swrl#B biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OIO:status biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:hasBroadSynonym biolink:NamedThing has_broad_synonym tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:UBPROP_0000105 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0007920 biolink:NamedThing obsolete Congenital chorioretinal dystrophy tmpxe7fu0cj_hp_relaxed.owl HP:0001135 True owl:Class HP:0000361 biolink:NamedThing obsolete Pulsatile tinnitus (tympanic paraganglioma) tmpxe7fu0cj_hp_relaxed.owl HP:0008629 True owl:Class HP:0001002 biolink:NamedThing obsolete Decreased subcutaneous fat tmpxe7fu0cj_hp_relaxed.owl HP:0003758 True owl:Class urn:swrl#eff biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable HP:0001726 biolink:NamedThing obsolete Increased prevalence of valvular disease tmpxe7fu0cj_hp_relaxed.owl HP:0001654 True owl:Class HP:0001006 biolink:NamedThing obsolete Hypotrichosis tmpxe7fu0cj_hp_relaxed.owl HP:0008070 True owl:Class HP:0032207 biolink:NamedThing obsolete Abnormal cerebrospinal fluid metabolite concentration tmpxe7fu0cj_hp_relaxed.owl HP:0025454 2019-01-20 15:49:06+00:00 peter True owl:Class HP:0005744 biolink:NamedThing obsolete Generalized osteoporosis with pathologic fractures tmpxe7fu0cj_hp_relaxed.owl HP:0040160 True owl:Class OIO:exception biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty IAO:0000111 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:default-namespace biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0030276 biolink:NamedThing obsolete Small scrotum tmpxe7fu0cj_hp_relaxed.owl HP:0000046 True owl:Class OIO:is_metadata_tag biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0032875 biolink:NamedThing obsolete Focal impaired awareness cognitive seizure with impaired responsiveness tmpxe7fu0cj_hp_relaxed.owl HP:0032756 peter True owl:Class HP:0030761 biolink:NamedThing obsolete Renal glomerular fibrosis tmpxe7fu0cj_hp_relaxed.owl HP:0000096 True owl:Class HP:0041161 biolink:NamedThing obsolete Fractured pelvic region of trunk tmpxe7fu0cj_hp_relaxed.owl HP:0020110 True owl:Class HP:0005901 biolink:NamedThing obsolete Chronic recurrent multifocal osteomyelitis tmpxe7fu0cj_hp_relaxed.owl HP:0002754 True owl:Class HP:0001575 biolink:NamedThing obsolete Mood changes tmpxe7fu0cj_hp_relaxed.owl HP:0000712 True owl:Class OBO:UBPROP_0000104 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:UBPROP_0000013 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty urn:swrl:var#x biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OIO:modified_from biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty skos:closeMatch biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0040048 biolink:NamedThing obsolete Aplasia of the left hemidiaphragm tmpxe7fu0cj_hp_relaxed.owl HP:0009112 HPO:skoehler True owl:Class OIO:is_inferred biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty RO:0004050 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:ontology biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0000487 biolink:NamedThing obsolete Congenital strabismus tmpxe7fu0cj_hp_relaxed.owl HP:0000486 True owl:Class urn:swrl#C biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OIO:external_class_label biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0031440 biolink:NamedThing obsolete Abnormal tricuspid valve morphology tmpxe7fu0cj_hp_relaxed.owl HP:0001702 True owl:Class OBO:ro.owl#z biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OBO:hsapdv#start_dpf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0007876 biolink:NamedThing obsolete Juvenile cortical cataract tmpxe7fu0cj_hp_relaxed.owl HP:0100019 True owl:Class HP:0006541 biolink:NamedThing obsolete Chronic obstructive airway disease from birth tmpxe7fu0cj_hp_relaxed.owl HP:0006510 True owl:Class HP:0004139 biolink:NamedThing obsolete Flared metaphysis of middle phalanx of index finger tmpxe7fu0cj_hp_relaxed.owl HP:0009569 True owl:Class HP:0010928 biolink:NamedThing obsolete 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phalanges of the ring finger tmpxe7fu0cj_hp_relaxed.owl HP:0009172 True owl:Class RO:0001900 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty RO:0002604 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:chebi/smiles biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:http://purl.obolibrary.org/obo/IAO_0000233 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:UBPROP_0000001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:hasDbXref biolink:NamedThing database_cross_reference tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty IAO:0000412 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty foaf:depicted_by biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:hasSynonymType biolink:NamedThing has_synonym_type tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty dc:rights biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty urn:swrl#z biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable HP:0002281 biolink:NamedThing obsolete Gray matter heterotopias tmpxe7fu0cj_hp_relaxed.owl HP:0002282 True owl:Class IAO:0000600 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:is_entailed biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:UBPROP_0000004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:UBPROP_0000103 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty urn:swrl#g1 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OBO:chebi/inchi biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:order biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty dc:source biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty dc:license biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty dc:creator biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:region biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:UBPROP_0000009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty IAO:0000117 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty IAO:0000231 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:created_by biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty IAO:0000700 biolink:NamedThing preferred_root tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:specialization_within biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty BFO:0000179 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty urn:swrl#d biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OBO:UBPROP_0000008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OBO:UBPROP_0000002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty urn:swrl#g2 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OBO:cl#created_by biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:taxon_notes biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty OIO:notes biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0004782 biolink:NamedThing obsolete Hypotrichosis of the scalp tmpxe7fu0cj_hp_relaxed.owl HP:0002209 True owl:Class urn:swrl:var#z biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OBO:chebi/monoisotopicmass biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty HP:0040168 biolink:NamedThing obsolete Focal seizures, afebril tmpxe7fu0cj_hp_relaxed.owl HP:0007359 True owl:Class urn:swrl#p biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable IAO:0000424 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://www.snomedbrowser.com/Codes/Details/372177002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Ligament biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362322002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362462004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362526003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0226766 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Popliteal_vein biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/231189006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0227515 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361780007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/304573000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Ganglion_cell_layer biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1709961 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1305752 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Parathyroid_gland biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/279696001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=757 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/313055005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1179157 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=460 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1314737 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Basilar_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280667001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0228175 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Adductor_muscles_of_the_hip biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1578559 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/422755007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Internal_carotid_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0459947 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/245612004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Bone_marrow#Stroma biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Carpal_tunnel biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0039729 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0228482 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/34073007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl PATO:0001229 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Posterior_ethmoidal_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/360498003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Olfactory_tract biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1513875 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0227716 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0026607 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Coronary_circulation#Coronary_anatomy biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0031119 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/302545001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/18135006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Alimentary_canal#Upper_gastrointestinal_tract biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0001208 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Avian_pallium biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0018563 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362860004 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/278981008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl FMA:42372 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0227769 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Transverse_sinuses biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/243482002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=269 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0935624 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/31448001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361776002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0222649 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://uri.neuinfo.org/nif/nifstd/FMAID_7191 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362589007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/264481007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Metacarpal_bone biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0015392 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2078 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/263465008 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=188 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1707949 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1510944 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1708633 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=720 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://neurolex.org/wiki/Category:Rexed_spinal_cord_parcellation_scheme_region biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/187882006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/279319002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362019005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Superficial_part_of_transverse_cervical_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1007150190 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Autonomic_nervous_system biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/302536002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1517321 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362597000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl urn:swrl#mf biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.w3.org/2003/11/swrl#Variable http://www.snomedbrowser.com/Codes/Details/279293003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=3157 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Incus biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/136551005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362438009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1278895 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/426465002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Visceral_pericardium biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361831006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/317278007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0225555 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1707989 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/260488005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1710148 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/180931007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/368980007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Ductus_arteriosus biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0035065 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0023054 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0024695 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Female_urethra biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0227179 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Periosteum biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1706858 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/245527006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Ovarian_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0019149 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Cricoarytenoid_articulation biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl 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http://www.snomedbrowser.com/Codes/Details/362214007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361380005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Spinal_nerve biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/279627003 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2702 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Cerebrospinal_fluid biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Circumventricular_organs biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/245003002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0224178 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/196392002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0042905 biolink:NamedThing 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UMLS:C0026573 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0026638 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181224006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Mylohyoid_muscle biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C1280368 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:9709 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Right_lung biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361691006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0231024 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0582816 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=698 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Masseteric_nerve biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181217005 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biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/361462002 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362229009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/181825000 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/11124005 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0448345 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/280106006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0231109 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0231056 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl UMLS:C0024091 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/304704007 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/71683001 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl 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tmpxe7fu0cj_hp_relaxed.owl NCBITaxon:9816 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://www.snomedbrowser.com/Codes/Details/362140009 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Pharyngeal_muscles biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl OIO:min_count biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://en.wikipedia.org/wiki/Dorsal_nasal_artery biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl RO:0040042 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl owl:AnnotationProperty http://www.snomedbrowser.com/Codes/Details/3194006 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Blood_plasma biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Apocrine_sweat_gland biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl FMA:76587 biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl http://en.wikipedia.org/wiki/Canals_of_Hering biolink:NamedThing tmpxe7fu0cj_hp_relaxed.owl 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